tot num zimmer_hgmd_oneKG_na12878_snyder_ENSG_ENSTs: 719 1 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134215_ENST00000370056 gene_Name: VAV3_HUMAN 1 list of pdbs: 1 2D86 pdb_description: 02-Dec-06 NMR 20 Solution structure of the ch domain from human vav-3 protein 1 Zimmer Variants: 1 chr1:108307727:T:A 2544_892_298_T->S 1 HGMD Variants: 1 chr1:108138879:G:C 2544_2305_769_P->A 1 chr1:108138962:T:C 2544_2222_741_E->G 1 oneKG Variants: 1 chr1:108116715:G:A 2544_2456_819_T->I 0.000599042 1 chr1:108116748:G:C 2544_2423_808_S->C 0.000199681 1 chr1:108116784:C:T 2544_2387_796_R->Q 0.000199681 1 chr1:108138855:C:G 2544_2329_777_G->R 0.000199681 1 chr1:108138858:T:C 2544_2326_776_R->G 0.000199681 1 chr1:108138859:C:A 2544_2325_775_Q->H 0.000399361 1 chr1:108138962:T:C 2544_2222_741_E->G 0.000199681 1 chr1:108145675:C:G 2544_2126_709_S->T 0.000199681 1 chr1:108145688:C:T 2544_2113_705_E->K 0.000199681 1 chr1:108145748:C:T 2544_2053_685_E->K 0.000199681 1 chr1:108152557:G:T 2544_2011_671_P->T 0.00199681 1 chr1:108185282:C:T 2544_1873_625_V->I 0.000199681 1 chr1:108185297:G:C 2544_1858_620_Q->E 0.000199681 1 chr1:108185301:C:G 2544_1854_618_Q->H 0.152157 1 chr1:108185309:G:A 2544_1846_616_P->S 0.141973 1 chr1:108185314:C:T 2544_1841_614_G->E 0.000199681 1 chr1:108185345:A:G 2544_1810_604_S->P 0.000199681 1 chr1:108247246:C:T 2544_1631_544_C->Y 0.000199681 1 chr1:108291695:G:A 2544_1397_466_S->F 0.000798722 1 chr1:108292185:C:T 2544_1291_431_V->I 0.000199681 1 chr1:108299923:G:A 2544_1046_349_T->I 0.000399361 1 chr1:108307727:T:A 2544_892_298_T->S 0.492212 1 chr1:108309154:G:A 2544_736_246_R->W 0.000599042 1 chr1:108309166:C:G 2544_724_242_V->L 0.000199681 1 chr1:108311072:G:C 2544_708_236_I->M 0.000199681 1 chr1:108319884:C:T 2544_415_139_D->N 0.00399361 1 chr1:108417527:C:A 2544_317_106_G->V 0.000199681 1 chr1:108417545:A:G 2544_299_100_F->S 0.000199681 1 chr1:108417605:G:A 2544_239_80_T->M 0.000399361 1 chr1:108507327:G:C 2544_165_55_I->M 0.000199681 1 chr1:108507338:C:T 2544_154_52_A->T 0.000199681 1 chr1:108507341:G:A 2544_151_51_R->W 0.000199681 1 chr1:108507344:G:A 2544_148_50_L->F 0.000599042 1 chr1:108507391:G:A 2544_101_34_A->V 0.000199681 1 chr1:108507419:A:G 2544_73_25_W->R 0.000399361 1 chr1:108507469:G:A 2544_23_8_A->V 0.000798722 1 na12878 Variants: 1 chr1:108307727:T:A 2544_892_298_T->S 1 chr1:108185301:C:G 2544_1854_618_Q->H 1 snyder Variants: 1 chr1:108307727:T:A 2544_892_298_T->S 2 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134215_ENST00000527011 gene_Name: VAV3_HUMAN 2 list of pdbs: 2 2D86 pdb_description: 02-Dec-06 NMR 20 Solution structure of the ch domain from human vav-3 protein 2 Zimmer Variants: 2 chr1:108307727:T:A 2628_892_298_T->S 2 HGMD Variants: 2 chr1:108138879:G:C 2628_2305_769_P->A 2 chr1:108138962:T:C 2628_2222_741_E->G 2 oneKG Variants: 2 chr1:108116715:G:A 2628_2540_847_T->I 0.000599042 2 chr1:108116748:G:C 2628_2507_836_S->C 0.000199681 2 chr1:108116784:C:T 2628_2471_824_R->Q 0.000199681 2 chr1:108119041:G:A 2628_2407_803_P->S 0.000199681 2 chr1:108119095:G:T 2628_2353_785_P->T 0.000199681 2 chr1:108138855:C:G 2628_2329_777_G->R 0.000199681 2 chr1:108138858:T:C 2628_2326_776_R->G 0.000199681 2 chr1:108138859:C:A 2628_2325_775_Q->H 0.000399361 2 chr1:108138962:T:C 2628_2222_741_E->G 0.000199681 2 chr1:108145675:C:G 2628_2126_709_S->T 0.000199681 2 chr1:108145688:C:T 2628_2113_705_E->K 0.000199681 2 chr1:108145748:C:T 2628_2053_685_E->K 0.000199681 2 chr1:108152557:G:T 2628_2011_671_P->T 0.00199681 2 chr1:108185282:C:T 2628_1873_625_V->I 0.000199681 2 chr1:108185297:G:C 2628_1858_620_Q->E 0.000199681 2 chr1:108185301:C:G 2628_1854_618_Q->H 0.152157 2 chr1:108185309:G:A 2628_1846_616_P->S 0.141973 2 chr1:108185314:C:T 2628_1841_614_G->E 0.000199681 2 chr1:108185345:A:G 2628_1810_604_S->P 0.000199681 2 chr1:108247246:C:T 2628_1631_544_C->Y 0.000199681 2 chr1:108291695:G:A 2628_1397_466_S->F 0.000798722 2 chr1:108292185:C:T 2628_1291_431_V->I 0.000199681 2 chr1:108299923:G:A 2628_1046_349_T->I 0.000399361 2 chr1:108307727:T:A 2628_892_298_T->S 0.492212 2 chr1:108309154:G:A 2628_736_246_R->W 0.000599042 2 chr1:108309166:C:G 2628_724_242_V->L 0.000199681 2 chr1:108311072:G:C 2628_708_236_I->M 0.000199681 2 chr1:108319884:C:T 2628_415_139_D->N 0.00399361 2 chr1:108417527:C:A 2628_317_106_G->V 0.000199681 2 chr1:108417545:A:G 2628_299_100_F->S 0.000199681 2 chr1:108417605:G:A 2628_239_80_T->M 0.000399361 2 chr1:108507327:G:C 2628_165_55_I->M 0.000199681 2 chr1:108507338:C:T 2628_154_52_A->T 0.000199681 2 chr1:108507341:G:A 2628_151_51_R->W 0.000199681 2 chr1:108507344:G:A 2628_148_50_L->F 0.000599042 2 chr1:108507391:G:A 2628_101_34_A->V 0.000199681 2 chr1:108507419:A:G 2628_73_25_W->R 0.000399361 2 chr1:108507469:G:A 2628_23_8_A->V 0.000798722 2 na12878 Variants: 2 chr1:108307727:T:A 2628_892_298_T->S 2 chr1:108185301:C:G 2628_1854_618_Q->H 2 snyder Variants: 2 chr1:108307727:T:A 2628_892_298_T->S 3 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116711_ENST00000367466 gene_Name: PA24A_HUMAN 3 list of pdbs: 3 1RLW pdb_description: 25-Feb-98 X-ray 2.400 Calcium-phospholipid binding domain from cytosolic phospholipase a2 3 1CJY pdb_description: 20-Apr-00 X-ray 2.500 Human cytosolic phospholipase a2 3 1BCI pdb_description: 25-Nov-98 NMR 1 C2 domain of cytosolic phospholipase a2, nmr, minimized average structure 3 Zimmer Variants: 3 chr1:186946912:G:A 2250_1952_651_R->K 3 HGMD Variants: 3 chr1:186863296:T:C 2250_331_111_S->P 3 chr1:186925351:G:A 2250_1454_485_R->H 3 chr1:186934684:G:C 2250_1723_575_D->H 3 chr1:186946912:G:A 2250_1952_651_R->K 3 oneKG Variants: 3 chr1:186823499:G:C 2250_13_5_D->H 0.000199681 3 chr1:186862179:C:G 2250_152_51_S->C 0.000199681 3 chr1:186862223:G:A 2250_196_66_D->N 0.000199681 3 chr1:186863239:A:G 2250_274_92_M->V 0.000199681 3 chr1:186863250:T:G 2250_285_95_N->K 0.000199681 3 chr1:186863257:A:G 2250_292_98_M->V 0.000199681 3 chr1:186863287:A:T 2250_322_108_T->S 0.00119808 3 chr1:186863306:T:A 2250_341_114_V->E 0.000199681 3 chr1:186863320:G:A 2250_355_119_E->K 0.00119808 3 chr1:186876106:A:G 2250_388_130_M->V 0.000199681 3 chr1:186880521:T:A 2250_558_186_D->E 0.000199681 3 chr1:186902006:G:A 2250_670_224_V->I 0.000399361 3 chr1:186908180:A:C 2250_736_246_K->Q 0.000199681 3 chr1:186908192:G:A 2250_748_250_E->K 0.000199681 3 chr1:186908219:G:A 2250_775_259_V->I 0.000199681 3 chr1:186908339:A:G 2250_895_299_I->V 0.000399361 3 chr1:186916087:G:C 2250_1258_420_E->Q 0.000599042 3 chr1:186919832:C:A 2250_1308_436_D->E 0.000199681 3 chr1:186919851:G:A 2250_1327_443_E->K 0.000399361 3 chr1:186925261:A:T 2250_1364_455_D->V 0.000199681 3 chr1:186925293:C:A 2250_1396_466_H->N 0.000199681 3 chr1:186925334:C:G 2250_1437_479_F->L 0.000399361 3 chr1:186925428:G:A 2250_1531_511_A->T 0.000199681 3 chr1:186925434:C:A 2250_1537_513_Q->K 0.000998403 3 chr1:186934559:G:A 2250_1598_533_R->Q 0.000199681 3 chr1:186934705:G:A 2250_1744_582_D->N 0.000199681 3 chr1:186946860:T:G 2250_1900_634_C->G 0.000199681 3 chr1:186946869:A:G 2250_1909_637_I->V 0.00658946 3 chr1:186946872:A:G 2250_1912_638_I->V 0.000199681 3 chr1:186946906:A:T 2250_1946_649_K->M 0.000199681 3 chr1:186946912:G:A 2250_1952_651_R->K 0.011781 3 na12878 Variants: 3 chr1:186946869:A:G 2250_1909_637_I->V 3 chr1:186946912:G:A 2250_1952_651_R->K 3 snyder Variants: 3 chr1:186946912:G:A 2250_1952_651_R->K 4 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000127884_ENST00000368547 gene_Name: ECHM_HUMAN 4 list of pdbs: 4 2HW5 pdb_description: 22-Aug-06 X-ray 2.550 The crystal structure of human enoyl-coenzyme a (coa) hydrat chain 1, echs1 4 Zimmer Variants: 4 chr10:135184126:G:A 873_224_75_T->I;HUB=PPI®GNEG=Yes;GENE=ECHS1;CDSS=4 4 HGMD Variants: 4 chr10:135182468:G:T 873_473_158_A->D 4 chr10:135186833:G:A 873_5_2_A->V 4 chr10:135186836:A:C 873_2_1_M->R 4 oneKG Variants: 4 chr10:135176430:C:T 873_815_272_R->Q 0.000199681 4 chr10:135179531:C:A 873_688_230_A->S 0.000199681 4 chr10:135180455:G:A 873_557_186_S->L 0.000199681 4 chr10:135180474:T:C 873_538_180_T->A 0.000199681 4 chr10:135182478:C:T 873_463_155_G->S 0.000199681 4 chr10:135183430:A:G 873_392_131_I->T 0.000199681 4 chr10:135184085:C:T 873_265_89_G->S 0.000199681 4 chr10:135184126:G:A 873_224_75_T->I 0.178714 4 chr10:135184174:T:C 873_176_59_N->S 0.000399361 4 chr10:135184180:G:A 873_170_57_A->V 0.000199681 4 chr10:135186806:A:G 873_32_11_V->A 0.324081 4 chr10:135186812:G:A 873_26_9_S->F 0.000199681 4 chr10:135186830:G:A 873_8_3_A->V 0.000199681 4 na12878 Variants: 4 chr10:135184126:G:A 873_224_75_T->I 4 snyder Variants: 4 chr10:135184126:G:A 873_224_75_T->I 5 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000415148 gene_Name: CD44_HUMAN 5 list of pdbs: 5 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 5 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 5 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 5 Zimmer Variants: 5 chr11:35229673:T:C 2100_1307_436_I->T 5 chr11:35226155:A:G 2100_1121_374_K->R 5 HGMD Variants: 5 chr11:35198191:G:C 2100_137_46_R->P 5 chr11:35201842:C:G 2100_255_85_H->Q 5 chr11:35211433:C:A 2100_488_163_T->K 5 oneKG Variants: 5 chr11:35198191:G:C 2100_137_46_R->P 0.00319489 5 chr11:35208403:C:T 2100_392_131_S->L 0.000399361 5 chr11:35211405:C:T 2100_460_154_R->C 0.000399361 5 chr11:35211477:G:A 2100_532_178_V->M 0.000599042 5 chr11:35211508:G:T 2100_563_188_S->I 0.000199681 5 chr11:35211513:T:C 2100_568_190_S->P 0.000199681 5 chr11:35211592:C:T 2100_647_216_T->I 0.000199681 5 chr11:35222673:G:C 2100_838_280_D->H 0.000199681 5 chr11:35223274:C:T 2100_964_322_P->S 0.000199681 5 chr11:35223326:C:T 2100_1016_339_T->I 0.000199681 5 chr11:35226062:A:G 2100_1028_343_Q->R 0.000199681 5 chr11:35226083:C:T 2100_1049_350_T->M 0.00359425 5 chr11:35226143:G:C 2100_1109_370_R->P 0.000199681 5 chr11:35226155:A:G 2100_1121_374_K->R 0.169728 5 chr11:35227674:C:A 2100_1169_390_T->N 0.00219649 5 chr11:35227722:C:T 2100_1217_406_S->F 0.000199681 5 chr11:35227745:A:G 2100_1240_414_I->V 0.00419329 5 chr11:35227758:T:C 2100_1253_418_M->T 0.00219649 5 chr11:35227764:G:A 2100_1259_420_R->Q 0.0081869 5 chr11:35227766:G:A 2100_1261_421_G->S 0.000199681 5 chr11:35229654:A:G 2100_1288_430_M->V 0.000199681 5 chr11:35229673:T:C 2100_1307_436_I->T 0.060903 5 chr11:35229751:C:T 2100_1385_462_T->M 0.000199681 5 chr11:35231542:C:T 2100_1418_473_S->L 0.000199681 5 chr11:35232808:C:T 2100_1493_498_T->I 0.000998403 5 chr11:35232831:C:A 2100_1516_506_H->N 0.000199681 5 chr11:35232909:C:T 2100_1594_532_P->S 0.000199681 5 chr11:35232985:G:A 2100_1670_557_R->H 0.000599042 5 chr11:35236429:G:A 2100_1712_571_G->E 0.000399361 5 chr11:35240875:G:T 2100_1757_586_G->V 0.00379393 5 chr11:35240911:C:T 2100_1793_598_P->L 0.000199681 5 chr11:35240926:A:G 2100_1808_603_Q->R 0.000199681 5 chr11:35243231:C:T 2100_1847_616_A->V 0.000199681 5 chr11:35243273:G:A 2100_1889_630_R->Q 0.000798722 5 chr11:35250725:G:A 2100_1945_649_E->K 0.000199681 5 chr11:35250801:C:T 2100_2021_674_S->L 0.000199681 5 chr11:35250839:A:G 2100_2059_687_T->A 0.000199681 5 na12878 Variants: 5 chr11:35229673:T:C 2100_1307_436_I->T 5 chr11:35226155:A:G 2100_1121_374_K->R 5 snyder Variants: 5 chr11:35229673:T:C 2100_1307_436_I->T 5 chr11:35226155:A:G 2100_1121_374_K->R 6 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000449691 gene_Name: CD44_HUMAN 6 list of pdbs: 6 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 6 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 6 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 6 Zimmer Variants: 6 chr11:35229673:T:C 2100_1307_436_I->T;HUB=PPI;GNEG=Yes;GENE=CD44;CDSS=4 6 HGMD Variants: 6 chr11:35198191:G:C 2100_137_46_R->P 6 chr11:35201842:C:G 2100_255_85_H->Q 6 chr11:35211433:C:A 2100_488_163_T->K 6 oneKG Variants: 6 chr11:35198191:G:C 2100_137_46_R->P 0.00319489 6 chr11:35208403:C:T 2100_392_131_S->L 0.000399361 6 chr11:35211405:C:T 2100_460_154_R->C 0.000399361 6 chr11:35211477:G:A 2100_532_178_V->M 0.000599042 6 chr11:35211508:G:T 2100_563_188_S->I 0.000199681 6 chr11:35211513:T:C 2100_568_190_S->P 0.000199681 6 chr11:35211592:C:T 2100_647_216_T->I 0.000199681 6 chr11:35218301:A:G 2100_676_226_S->G 0.000199681 6 chr11:35218413:A:G 2100_788_263_Q->R 0.000199681 6 chr11:35222673:G:C 2100_967_323_D->H 0.000199681 6 chr11:35223274:C:T 2100_1093_365_P->S 0.000199681 6 chr11:35223326:C:T 2100_1145_382_T->I 0.000199681 6 chr11:35227674:C:A 2100_1169_390_T->N 0.00219649 6 chr11:35227722:C:T 2100_1217_406_S->F 0.000199681 6 chr11:35227745:A:G 2100_1240_414_I->V 0.00419329 6 chr11:35227758:T:C 2100_1253_418_M->T 0.00219649 6 chr11:35227764:G:A 2100_1259_420_R->Q 0.0081869 6 chr11:35227766:G:A 2100_1261_421_G->S 0.000199681 6 chr11:35229654:A:G 2100_1288_430_M->V 0.000199681 6 chr11:35229673:T:C 2100_1307_436_I->T 0.060903 6 chr11:35229751:C:T 2100_1385_462_T->M 0.000199681 6 chr11:35231542:C:T 2100_1418_473_S->L 0.000199681 6 chr11:35232808:C:T 2100_1493_498_T->I 0.000998403 6 chr11:35232831:C:A 2100_1516_506_H->N 0.000199681 6 chr11:35232909:C:T 2100_1594_532_P->S 0.000199681 6 chr11:35232985:G:A 2100_1670_557_R->H 0.000599042 6 chr11:35236429:G:A 2100_1712_571_G->E 0.000399361 6 chr11:35240875:G:T 2100_1757_586_G->V 0.00379393 6 chr11:35240911:C:T 2100_1793_598_P->L 0.000199681 6 chr11:35240926:A:G 2100_1808_603_Q->R 0.000199681 6 chr11:35243231:C:T 2100_1847_616_A->V 0.000199681 6 chr11:35243273:G:A 2100_1889_630_R->Q 0.000798722 6 chr11:35250725:G:A 2100_1945_649_E->K 0.000199681 6 chr11:35250801:C:T 2100_2021_674_S->L 0.000199681 6 chr11:35250839:A:G 2100_2059_687_T->A 0.000199681 6 na12878 Variants: 6 chr11:35229673:T:C 2100_1307_436_I->T 6 snyder Variants: 6 chr11:35229673:T:C 2100_1307_436_I->T 7 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000437706 gene_Name: CD44_HUMAN 7 list of pdbs: 7 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 7 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 7 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 7 Zimmer Variants: 7 chr11:35229673:T:C 2025_1436_479_I->T 7 chr11:35226155:A:G 2025_1250_417_K->R;HUB=PPI;GNEG=Yes;GENE=CD44;CDSS=3 7 HGMD Variants: 7 chr11:35198191:G:C 2025_137_46_R->P 7 chr11:35201842:C:G 2025_255_85_H->Q 7 chr11:35211433:C:A 2025_488_163_T->K 7 oneKG Variants: 7 chr11:35198191:G:C 2025_137_46_R->P 0.00319489 7 chr11:35208403:C:T 2025_392_131_S->L 0.000399361 7 chr11:35211405:C:T 2025_460_154_R->C 0.000399361 7 chr11:35211477:G:A 2025_532_178_V->M 0.000599042 7 chr11:35211508:G:T 2025_563_188_S->I 0.000199681 7 chr11:35211513:T:C 2025_568_190_S->P 0.000199681 7 chr11:35211592:C:T 2025_647_216_T->I 0.000199681 7 chr11:35218301:A:G 2025_676_226_S->G 0.000199681 7 chr11:35218413:A:G 2025_788_263_Q->R 0.000199681 7 chr11:35222673:G:C 2025_967_323_D->H 0.000199681 7 chr11:35223274:C:T 2025_1093_365_P->S 0.000199681 7 chr11:35223326:C:T 2025_1145_382_T->I 0.000199681 7 chr11:35226062:A:G 2025_1157_386_Q->R 0.000199681 7 chr11:35226083:C:T 2025_1178_393_T->M 0.00359425 7 chr11:35226143:G:C 2025_1238_413_R->P 0.000199681 7 chr11:35226155:A:G 2025_1250_417_K->R 0.169728 7 chr11:35227674:C:A 2025_1298_433_T->N 0.00219649 7 chr11:35227722:C:T 2025_1346_449_S->F 0.000199681 7 chr11:35227745:A:G 2025_1369_457_I->V 0.00419329 7 chr11:35227758:T:C 2025_1382_461_M->T 0.00219649 7 chr11:35227764:G:A 2025_1388_463_R->Q 0.0081869 7 chr11:35227766:G:A 2025_1390_464_G->S 0.000199681 7 chr11:35229654:A:G 2025_1417_473_M->V 0.000199681 7 chr11:35229673:T:C 2025_1436_479_I->T 0.060903 7 chr11:35229751:C:T 2025_1514_505_T->M 0.000199681 7 chr11:35231542:C:T 2025_1547_516_S->L 0.000199681 7 chr11:35236429:G:A 2025_1637_546_G->E 0.000399361 7 chr11:35240875:G:T 2025_1682_561_G->V 0.00379393 7 chr11:35240911:C:T 2025_1718_573_P->L 0.000199681 7 chr11:35240926:A:G 2025_1733_578_Q->R 0.000199681 7 chr11:35243231:C:T 2025_1772_591_A->V 0.000199681 7 chr11:35243273:G:A 2025_1814_605_R->Q 0.000798722 7 chr11:35250725:G:A 2025_1870_624_E->K 0.000199681 7 chr11:35250801:C:T 2025_1946_649_S->L 0.000199681 7 chr11:35250839:A:G 2025_1984_662_T->A 0.000199681 7 na12878 Variants: 7 chr11:35229673:T:C 2025_1436_479_I->T 7 chr11:35226155:A:G 2025_1250_417_K->R 7 snyder Variants: 7 chr11:35229673:T:C 2025_1436_479_I->T 7 chr11:35226155:A:G 2025_1250_417_K->R 8 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000360158 gene_Name: CD44_HUMAN 8 list of pdbs: 8 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 8 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 8 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 8 Zimmer Variants: 8 chr11:35229673:T:C 1191_689_230_I->T 8 HGMD Variants: 8 chr11:35198191:G:C 1191_137_46_R->P 8 chr11:35201842:C:G 1191_255_85_H->Q 8 chr11:35211433:C:A 1191_488_163_T->K 8 oneKG Variants: 8 chr11:35198191:G:C 1191_137_46_R->P 0.00319489 8 chr11:35208403:C:T 1191_392_131_S->L 0.000399361 8 chr11:35211405:C:T 1191_460_154_R->C 0.000399361 8 chr11:35211477:G:A 1191_532_178_V->M 0.000599042 8 chr11:35211508:G:T 1191_563_188_S->I 0.000199681 8 chr11:35211513:T:C 1191_568_190_S->P 0.000199681 8 chr11:35211592:C:T 1191_647_216_T->I 0.000199681 8 chr11:35229654:A:G 1191_670_224_M->V 0.000199681 8 chr11:35229673:T:C 1191_689_230_I->T 0.060903 8 chr11:35229751:C:T 1191_767_256_T->M 0.000199681 8 chr11:35236429:G:A 1191_803_268_G->E 0.000399361 8 chr11:35240875:G:T 1191_848_283_G->V 0.00379393 8 chr11:35240911:C:T 1191_884_295_P->L 0.000199681 8 chr11:35240926:A:G 1191_899_300_Q->R 0.000199681 8 chr11:35243231:C:T 1191_938_313_A->V 0.000199681 8 chr11:35243273:G:A 1191_980_327_R->Q 0.000798722 8 chr11:35250725:G:A 1191_1036_346_E->K 0.000199681 8 chr11:35250801:C:T 1191_1112_371_S->L 0.000199681 8 chr11:35250839:A:G 1191_1150_384_T->A 0.000199681 8 na12878 Variants: 8 chr11:35229673:T:C 1191_689_230_I->T 8 snyder Variants: 8 chr11:35229673:T:C 1191_689_230_I->T 9 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000428726 gene_Name: CD44_HUMAN 9 list of pdbs: 9 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 9 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 9 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 9 Zimmer Variants: 9 chr11:35229673:T:C 2229_1436_479_I->T 9 chr11:35226155:A:G 2229_1250_417_K->R 9 HGMD Variants: 9 chr11:35198191:G:C 2229_137_46_R->P 9 chr11:35201842:C:G 2229_255_85_H->Q 9 chr11:35211433:C:A 2229_488_163_T->K 9 oneKG Variants: 9 chr11:35198191:G:C 2229_137_46_R->P 0.00319489 9 chr11:35208403:C:T 2229_392_131_S->L 0.000399361 9 chr11:35211405:C:T 2229_460_154_R->C 0.000399361 9 chr11:35211477:G:A 2229_532_178_V->M 0.000599042 9 chr11:35211508:G:T 2229_563_188_S->I 0.000199681 9 chr11:35211513:T:C 2229_568_190_S->P 0.000199681 9 chr11:35211592:C:T 2229_647_216_T->I 0.000199681 9 chr11:35218301:A:G 2229_676_226_S->G 0.000199681 9 chr11:35218413:A:G 2229_788_263_Q->R 0.000199681 9 chr11:35222673:G:C 2229_967_323_D->H 0.000199681 9 chr11:35223274:C:T 2229_1093_365_P->S 0.000199681 9 chr11:35223326:C:T 2229_1145_382_T->I 0.000199681 9 chr11:35226062:A:G 2229_1157_386_Q->R 0.000199681 9 chr11:35226083:C:T 2229_1178_393_T->M 0.00359425 9 chr11:35226143:G:C 2229_1238_413_R->P 0.000199681 9 chr11:35226155:A:G 2229_1250_417_K->R 0.169728 9 chr11:35227674:C:A 2229_1298_433_T->N 0.00219649 9 chr11:35227722:C:T 2229_1346_449_S->F 0.000199681 9 chr11:35227745:A:G 2229_1369_457_I->V 0.00419329 9 chr11:35227758:T:C 2229_1382_461_M->T 0.00219649 9 chr11:35227764:G:A 2229_1388_463_R->Q 0.0081869 9 chr11:35227766:G:A 2229_1390_464_G->S 0.000199681 9 chr11:35229654:A:G 2229_1417_473_M->V 0.000199681 9 chr11:35229673:T:C 2229_1436_479_I->T 0.060903 9 chr11:35229751:C:T 2229_1514_505_T->M 0.000199681 9 chr11:35231542:C:T 2229_1547_516_S->L 0.000199681 9 chr11:35232808:C:T 2229_1622_541_T->I 0.000998403 9 chr11:35232831:C:A 2229_1645_549_H->N 0.000199681 9 chr11:35232909:C:T 2229_1723_575_P->S 0.000199681 9 chr11:35232985:G:A 2229_1799_600_R->H 0.000599042 9 chr11:35236429:G:A 2229_1841_614_G->E 0.000399361 9 chr11:35240875:G:T 2229_1886_629_G->V 0.00379393 9 chr11:35240911:C:T 2229_1922_641_P->L 0.000199681 9 chr11:35240926:A:G 2229_1937_646_Q->R 0.000199681 9 chr11:35243231:C:T 2229_1976_659_A->V 0.000199681 9 chr11:35243273:G:A 2229_2018_673_R->Q 0.000798722 9 chr11:35250725:G:A 2229_2074_692_E->K 0.000199681 9 chr11:35250801:C:T 2229_2150_717_S->L 0.000199681 9 chr11:35250839:A:G 2229_2188_730_T->A 0.000199681 9 na12878 Variants: 9 chr11:35229673:T:C 2229_1436_479_I->T 9 chr11:35226155:A:G 2229_1250_417_K->R 9 snyder Variants: 9 chr11:35229673:T:C 2229_1436_479_I->T 9 chr11:35226155:A:G 2229_1250_417_K->R 10 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000026508_ENST00000433892 gene_Name: CD44_HUMAN 10 list of pdbs: 10 2I83 pdb_description: 21-Nov-06 NMR 20 Hyaluronan-binding domain of cd44 in its ligand-bound form 10 1UUH pdb_description: 04-Mar-04 X-ray 2.200 Hyaluronan binding domain of human cd44 10 1POZ pdb_description: 16-Mar-04 NMR 20 Solution structure of the hyaluronan binding domain of human cd44 10 Zimmer Variants: 10 chr11:35229673:T:C 1482_689_230_I->T 10 HGMD Variants: 10 chr11:35198191:G:C 1482_137_46_R->P 10 chr11:35201842:C:G 1482_255_85_H->Q 10 chr11:35211433:C:A 1482_488_163_T->K 10 oneKG Variants: 10 chr11:35198191:G:C 1482_137_46_R->P 0.00319489 10 chr11:35208403:C:T 1482_392_131_S->L 0.000399361 10 chr11:35211405:C:T 1482_460_154_R->C 0.000399361 10 chr11:35211477:G:A 1482_532_178_V->M 0.000599042 10 chr11:35211508:G:T 1482_563_188_S->I 0.000199681 10 chr11:35211513:T:C 1482_568_190_S->P 0.000199681 10 chr11:35211592:C:T 1482_647_216_T->I 0.000199681 10 chr11:35229654:A:G 1482_670_224_M->V 0.000199681 10 chr11:35229673:T:C 1482_689_230_I->T 0.060903 10 chr11:35229751:C:T 1482_767_256_T->M 0.000199681 10 chr11:35231542:C:T 1482_800_267_S->L 0.000199681 10 chr11:35232808:C:T 1482_875_292_T->I 0.000998403 10 chr11:35232831:C:A 1482_898_300_H->N 0.000199681 10 chr11:35232909:C:T 1482_976_326_P->S 0.000199681 10 chr11:35232985:G:A 1482_1052_351_R->H 0.000599042 10 chr11:35236429:G:A 1482_1094_365_G->E 0.000399361 10 chr11:35240875:G:T 1482_1139_380_G->V 0.00379393 10 chr11:35240911:C:T 1482_1175_392_P->L 0.000199681 10 chr11:35240926:A:G 1482_1190_397_Q->R 0.000199681 10 chr11:35243231:C:T 1482_1229_410_A->V 0.000199681 10 chr11:35243273:G:A 1482_1271_424_R->Q 0.000798722 10 chr11:35250725:G:A 1482_1327_443_E->K 0.000199681 10 chr11:35250801:C:T 1482_1403_468_S->L 0.000199681 10 chr11:35250839:A:G 1482_1441_481_T->A 0.000199681 10 na12878 Variants: 10 chr11:35229673:T:C 1482_689_230_I->T 10 snyder Variants: 10 chr11:35229673:T:C 1482_689_230_I->T 11 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000052850_ENST00000329255 gene_Name: ALX4_HUMAN 11 list of pdbs: 11 2M0C pdb_description: 21-Nov-12 NMR 20 Solution nmr structure of homeobox domain of human alx4, nor structural genomics consortium (nesg) target hr4490c 11 Zimmer Variants: 11 chr11:44331309:G:A 1236_304_102_P->S;HUB=REG;GNEG=Yes;GENE=ALX4;CDSS=4 11 chr11:44331509:C:G 1236_104_35_R->T;HUB=REG;GNEG=Yes;GENE=ALX4;CDSS=4 11 HGMD Variants: 11 chr11:44289157:G:A 1236_793_265_R->* 11 chr11:44296939:G:A 1236_736_246_Q->* 11 chr11:44297055:G:T 1236_620_207_S->* 11 chr11:44331195:G:A 1236_418_140_Q->* 11 chr11:44289135:C:G 1236_815_272_R->P 11 chr11:44297002:G:C 1236_673_225_Q->E 11 chr11:44297022:C:T 1236_653_218_R->Q 11 chr11:44297029:G:C 1236_646_216_R->G 11 chr11:44297044:T:C 1236_631_211_K->E 11 chr11:44331594:C:A 1236_19_7_V->F 11 oneKG Variants: 11 chr11:44286426:G:T 1236_1214_405_A->E 0.000199681 11 chr11:44286507:T:C 1236_1133_378_N->S 0.000199681 11 chr11:44286523:G:A 1236_1117_373_L->F 0.00259585 11 chr11:44286660:G:A 1236_980_327_P->L 0.000199681 11 chr11:44286664:C:T 1236_976_326_D->N 0.000399361 11 chr11:44289063:C:T 1236_887_296_R->Q 0.000199681 11 chr11:44289105:C:T 1236_845_282_R->Q 0.000199681 11 chr11:44289119:C:G 1236_831_277_Q->H 0.000599042 11 chr11:44296906:G:A 1236_769_257_R->C 0.000199681 11 chr11:44296993:C:T 1236_682_228_E->K 0.000199681 11 chr11:44297048:G:T 1236_627_209_S->R 0.000199681 11 chr11:44297201:C:G 1236_474_158_E->D 0.00139776 11 chr11:44331153:A:T 1236_460_154_C->S 0.00139776 11 chr11:44331173:C:T 1236_440_147_S->N 0.00179712 11 chr11:44331218:G:T 1236_395_132_P->H 0.000199681 11 chr11:44331254:G:A 1236_359_120_P->L 0.000199681 11 chr11:44331309:G:A 1236_304_102_P->S 0.372005 11 chr11:44331387:G:T 1236_226_76_P->T 0.00119808 11 chr11:44331425:C:T 1236_188_63_R->Q 0.00179712 11 chr11:44331487:C:A 1236_126_42_K->N 0.000199681 11 chr11:44331509:C:G 1236_104_35_R->T 0.472644 11 chr11:44331606:C:G 1236_7_3_A->P 0.000199681 11 na12878 Variants: 11 chr11:44331309:G:A 1236_304_102_P->S 11 chr11:44331509:C:G 1236_104_35_R->T 11 snyder Variants: 11 chr11:44331509:C:G 1236_104_35_R->T 12 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110711_ENST00000279146 gene_Name: AIP_HUMAN 12 list of pdbs: 12 4APO pdb_description: 23-Jan-13 X-ray 1.900 Aip tpr domain in complex with human tomm20 peptide 12 4AIF pdb_description: 23-Jan-13 X-ray 2.010 Aip tpr domain in complex with human hsp90 peptide 12 2LKN pdb_description: 17-Oct-12 NMR 20 Solution structure of the ppiase domain of human aryl-hydroc receptor-interacting protein (aip) 12 Zimmer Variants: 12 chr11:67258391:A:G 993_920_307_Q->R;HUB=REG;GNEG=Yes;GENE=AIP;CDSS=4 12 HGMD Variants: 12 chr11:67250669:C:T 993_40_14_Q->* 12 chr11:67250687:G:T 993_58_20_E->* 12 chr11:67250693:C:T 993_64_22_R->* 12 chr11:67250699:G:T 993_70_24_E->* 12 chr11:67254618:C:T 993_241_81_R->* 12 chr11:67256882:C:T 993_424_142_Q->* 12 chr11:67257530:C:T 993_490_164_Q->* 12 chr11:67257590:C:T 993_550_184_Q->* 12 chr11:67257641:A:T 993_601_201_K->* 12 chr11:67257787:G:T 993_646_216_E->* 12 chr11:67257790:C:T 993_649_217_Q->* 12 chr11:67257826:C:T 993_685_229_Q->* 12 chr11:67257856:C:T 993_715_239_Q->* 12 chr11:67257862:A:T 993_721_241_K->* 12 chr11:67257924:C:A 993_783_261_Y->* 12 chr11:67257924:C:G 993_783_261_Y->* 12 chr11:67258275:C:A 993_804_268_Y->* 12 chr11:67258315:C:T 993_844_282_Q->* 12 chr11:67258324:C:T 993_853_285_Q->* 12 chr11:67258381:C:T 993_910_304_R->* 12 chr11:67258414:C:T 993_943_315_Q->* 12 chr11:67250631:T:C 993_2_1_M->T 12 chr11:67250655:G:A 993_26_9_R->Q 12 chr11:67250667:T:A 993_38_13_I->N 12 chr11:67250676:G:A 993_47_16_R->H 12 chr11:67250719:T:G 993_90_30_D->E 12 chr11:67254522:G:A 993_145_49_V->M 12 chr11:67254543:C:T 993_166_56_R->C 12 chr11:67254551:G:C 993_174_58_K->N 12 chr11:67254585:C:A 993_208_70_L->M 12 chr11:67254627:G:A 993_250_84_E->K 12 chr11:67256766:A:G 993_308_103_K->R 12 chr11:67256813:C:T 993_355_119_R->W 12 chr11:67257549:T:C 993_509_170_M->T 12 chr11:67257603:G:A 993_563_188_R->Q 12 chr11:67257624:T:C 993_584_195_V->A 12 chr11:67257854:G:A 993_713_238_C->Y 12 chr11:67257859:T:C 993_718_240_C->R 12 chr11:67257862:A:G 993_721_241_K->E 12 chr11:67257910:A:G 993_769_257_I->V 12 chr11:67257925:G:A 993_784_262_D->N 12 chr11:67258274:A:G 993_803_268_Y->C 12 chr11:67258282:C:T 993_811_271_R->W 12 chr11:67258300:G:C 993_829_277_A->P 12 chr11:67258342:G:A 993_871_291_V->M 12 chr11:67258343:T:A 993_872_291_V->E 12 chr11:67258352:T:C 993_881_294_L->P 12 chr11:67258367:C:T 993_896_299_A->V 12 chr11:67258382:G:A 993_911_304_R->Q 12 chr11:67258426:G:A 993_955_319_E->K 12 chr11:67258438:C:T 993_967_323_R->W 12 chr11:67258445:G:A 993_974_325_R->Q 12 chr11:67258447:G:A 993_976_326_G->R 12 chr11:67258457:C:T 993_986_329_S->F 12 oneKG Variants: 12 chr11:67250655:G:A 993_26_9_R->Q 0.000199681 12 chr11:67250675:C:T 993_46_16_R->C 0.000199681 12 chr11:67250676:G:A 993_47_16_R->H 0.000599042 12 chr11:67250697:G:A 993_68_23_G->E 0.000798722 12 chr11:67250701:G:C 993_72_24_E->D 0.000199681 12 chr11:67254481:C:T 993_104_35_T->M 0.000199681 12 chr11:67254489:T:C 993_112_38_Y->H 0.000199681 12 chr11:67254493:G:A 993_116_39_R->Q 0.000399361 12 chr11:67254510:G:A 993_133_45_D->N 0.000199681 12 chr11:67254606:G:A 993_229_77_V->M 0.000199681 12 chr11:67256759:G:A 993_301_101_V->M 0.000599042 12 chr11:67256784:C:T 993_326_109_A->V 0.000199681 12 chr11:67257516:G:A 993_476_159_S->N 0.000199681 12 chr11:67257557:G:A 993_517_173_E->K 0.000199681 12 chr11:67257602:C:T 993_562_188_R->W 0.000199681 12 chr11:67257611:C:T 993_571_191_R->C 0.000199681 12 chr11:67257612:G:A 993_572_191_R->H 0.000199681 12 chr11:67257614:G:A 993_574_192_E->K 0.000599042 12 chr11:67257615:A:G 993_575_192_E->G 0.000199681 12 chr11:67257823:C:A 993_682_228_Q->K 0.154553 12 chr11:67257833:C:T 993_692_231_T->M 0.000199681 12 chr11:67257836:C:T 993_695_232_P->L 0.000199681 12 chr11:67257874:G:A 993_733_245_E->K 0.000399361 12 chr11:67258367:C:T 993_896_299_A->V 0.000599042 12 chr11:67258391:A:G 993_920_307_Q->R 0.000599 12 chr11:67258412:G:A 993_941_314_R->Q 0.000199681 12 chr11:67258438:C:T 993_967_323_R->W 0.000399361 12 na12878 Variants: 12 chr11:67258391:A:G 993_920_307_Q->R 12 snyder Variants: 12 chr11:67258391:A:G 993_920_307_Q->R 13 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111424_ENST00000395324 gene_Name: VDR_HUMAN 13 list of pdbs: 13 4G2I pdb_description: 26-Sep-12 X-ray 1.800 Structural basis for the accommodation of bis- and tris-arom derivatives in vitamin d nuclear receptor 13 3VHW pdb_description: 06-Mar-13 X-ray 2.430 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 4-mp 13 3TKC pdb_description: 07-Mar-12 X-ray 1.750 Design, synthesis, evaluation and structure of vitamin d ana with furan side chains 13 3P8X pdb_description: 31-Aug-11 X-ray 1.700 Synthesis, structure, and biological activity of des-side ch analogues of 1alpha,25-dihydroxyvitamin d3 with substituent 13 3OGT pdb_description: 17-Aug-11 X-ray 1.750 Design, chemical synthesis, functional characterization and structure of the sidechain analogue of 1,25-dihydroxyvitami 13 3M7R pdb_description: 05-May-10 X-ray 1.800 Crystal structure of vdr h305q mutant 13 3KPZ pdb_description: 12-Oct-11 X-ray 1.900 Crystal structure of a novel vitamin d3 analogue, zk203278 s dissociated profile 13 3CS6 pdb_description: 27-May-08 X-ray 1.800 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 13 3CS4 pdb_description: 27-May-08 X-ray 2.000 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 13 3B0T pdb_description: 10-Aug-11 X-ray 1.300 Human vdr ligand binding domain in complex with maxacalcitol 13 3AZ3 pdb_description: 02-Nov-11 X-ray 1.360 Crystal structure analysis of vitamin d receptor 13 3AZ2 pdb_description: 02-Nov-11 X-ray 1.690 Crystal structure analysis of vitamin d receptor 13 3AZ1 pdb_description: 02-Nov-11 X-ray 1.500 Crystal structure analysis of vitamin d receptor 13 3AX8 pdb_description: 05-Oct-11 X-ray 2.600 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 15alpha-methoxy-1alpha,25-dihydroxyvi 13 3AUR pdb_description: 14-Sep-11 X-ray 2.210 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 13 3AUQ pdb_description: 14-Sep-11 X-ray 2.640 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 13 3A78 pdb_description: 13-Oct-10 X-ray 1.900 Crystal structure of the human vdr ligand binding domain bou natural metabolite 1alpha,25-dihydroxy-3-epi-vitamin d3 13 3A40 pdb_description: 02-Feb-10 X-ray 1.450 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277b(c23r) 13 3A3Z pdb_description: 02-Feb-10 X-ray 1.720 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277a(c23s) 13 3A2J pdb_description: 26-May-10 X-ray 2.700 Crystal structure of the human vitamin d receptor (h305f/h39 binding domain complexed with tei-9647 13 3A2I pdb_description: 26-May-10 X-ray 3.270 Crystal structure of the human vitamin d receptor (h305f) li binding domain complexed with tei-9647 13 2HB8 pdb_description: 29-Aug-06 X-ray 2.000 Crystal structure of vdr lbd in complex with 2alpha-methyl calcitriol 13 2HB7 pdb_description: 29-Aug-06 X-ray 1.800 Crystal structure of vdr lbd in complex with 2alpha(3- hydroxy-1-propyl) calcitriol 13 2HAS pdb_description: 29-Aug-06 X-ray 1.960 Crystal structure of vdr lbd in complex with 2alpha-(1- propoxy) calcitriol 13 2HAR pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd in complex with 2 alpha-(3- hydroxy-1-propoxy) calcitriol 13 2HAM pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd complexed to 2alpha-propyl- calcitriol 13 1TXI pdb_description: 10-May-05 X-ray 1.900 Crystal structure of the vdr ligand binding domain complexed to tx522 13 1S19 pdb_description: 13-Apr-04 X-ray 2.100 Crystal structure of vdr ligand binding domain complexed to calcipotriol. 13 1S0Z pdb_description: 13-Apr-04 X-ray 2.500 Crystal structure of the vdr lbd complexed to seocalcitol. 13 1KB6 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to rat osteocalcin (oc) response element 13 1KB4 pdb_description: 03-May-02 X-ray 2.800 Crystal structure of vdr DNA-binding domain bound to a canonical direct repeat with three base pair spacer (dr3) response element 13 1KB2 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to mouse osteopontin (spp) response element 13 1IE9 pdb_description: 16-May-01 X-ray 1.400 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to mc1288 13 1IE8 pdb_description: 16-May-01 X-ray 1.520 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to kh1060 13 1DB1 pdb_description: 31-Jan-00 X-ray 1.800 Crystal structure of the nuclear receptor for vitamin d complexed to vitamin d 13 1YNW pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure of vitamin d receptor and 9-cis retinoic a receptor DNA-binding domains bound to a dr3 response elemen 13 Zimmer Variants: 13 chr12:48272895:A:G 1284_2_1_M->T 13 HGMD Variants: 13 chr12:48238747:G:A 1284_1066_356_Q->* 13 chr12:48240193:G:A 1284_949_317_Q->* 13 chr12:48240462:G:T 1284_885_295_Y->* 13 chr12:48251295:G:A 1284_454_152_Q->* 13 chr12:48258890:G:A 1284_217_73_R->* 13 chr12:48258959:G:A 1284_148_50_R->* 13 chr12:48272809:G:A 1284_88_30_R->* 13 chr12:48238554:T:G 1284_1259_420_E->A 13 chr12:48238555:C:T 1284_1258_420_E->K 13 chr12:48238641:C:T 1284_1172_391_R->H 13 chr12:48238642:G:A 1284_1171_391_R->C 13 chr12:48238642:G:T 1284_1171_391_R->S 13 chr12:48238777:C:T 1284_1036_346_V->M 13 chr12:48238786:G:A 1284_1027_343_R->C 13 chr12:48240157:C:T 1284_985_329_E->K 13 chr12:48240186:C:A 1284_956_319_G->V 13 chr12:48240201:A:C 1284_941_314_I->S 13 chr12:48240227:G:C 1284_915_305_H->Q 13 chr12:48240491:A:G 1284_856_286_W->R 13 chr12:48240521:T:A 1284_826_276_N->Y 13 chr12:48240526:C:T 1284_821_274_R->H 13 chr12:48240526:C:A 1284_821_274_R->L 13 chr12:48240544:A:G 1284_803_268_I->T 13 chr12:48240559:A:C 1284_788_263_L->R 13 chr12:48240571:T:G 1284_776_259_Q->P 13 chr12:48240572:G:C 1284_775_259_Q->E 13 chr12:48249416:A:C 1284_752_251_F->C 13 chr12:48249488:A:G 1284_680_227_L->P 13 chr12:48250925:A:C 1284_570_190_C->W 13 chr12:48251023:G:A 1284_472_158_R->C 13 chr12:48251312:G:A 1284_437_146_T->I 13 chr12:48251319:C:T 1284_430_144_D->N 13 chr12:48258857:A:G 1284_250_84_C->R 13 chr12:48258868:C:T 1284_239_80_R->Q 13 chr12:48258889:C:T 1284_218_73_R->Q 13 chr12:48258927:G:C 1284_180_60_C->W 13 chr12:48258958:C:T 1284_149_50_R->Q 13 chr12:48272758:A:T 1284_139_47_F->I 13 chr12:48272760:C:T 1284_137_46_G->D 13 chr12:48272764:T:C 1284_133_45_K->E 13 chr12:48272775:C:T 1284_122_41_C->Y 13 chr12:48272792:G:C 1284_105_35_H->Q 13 chr12:48272799:C:T 1284_98_33_G->D 13 chr12:48272821:C:T 1284_76_26_V->M 13 chr12:48272895:A:G 1284_2_1_M->T 13 oneKG Variants: 13 chr12:48238692:G:C 1284_1121_374_P->R 0.000199681 13 chr12:48238704:C:T 1284_1109_370_R->H 0.000199681 13 chr12:48238728:G:A 1284_1085_362_T->I 0.00259585 13 chr12:48238740:C:T 1284_1073_358_R->H 0.000998403 13 chr12:48238765:C:T 1284_1048_350_A->T 0.000998403 13 chr12:48240126:A:G 1284_1016_339_V->A 0.000199681 13 chr12:48240127:C:T 1284_1015_339_V->I 0.000599042 13 chr12:48240460:C:T 1284_887_296_R->H 0.000199681 13 chr12:48240473:C:G 1284_874_292_D->H 0.000399361 13 chr12:48249443:A:G 1284_725_242_I->T 0.000199681 13 chr12:48249448:C:A 1284_720_240_K->N 0.000399361 13 chr12:48249521:G:A 1284_647_216_S->F 0.000199681 13 chr12:48250920:G:C 1284_575_192_T->S 0.000199681 13 chr12:48250976:T:A 1284_519_173_R->S 0.000199681 13 chr12:48251032:G:T 1284_463_155_P->T 0.000199681 13 chr12:48258931:G:A 1284_176_59_T->I 0.000599042 13 chr12:48258951:C:A 1284_156_52_M->I 0.000199681 13 chr12:48272832:C:A 1284_65_22_R->L 0.000199681 13 chr12:48272844:C:T 1284_53_18_R->Q 0.000199681 13 chr12:48272845:G:A 1284_52_18_R->W 0.000399361 13 chr12:48272887:T:C 1284_10_4_M->V 0.00119808 13 chr12:48272895:A:G 1284_2_1_M->T 0.328474 13 na12878 Variants: 13 chr12:48272895:A:G 1284_2_1_M->T 13 snyder Variants: 13 chr12:48272895:A:G 1284_2_1_M->T 14 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111424_ENST00000229022 gene_Name: VDR_HUMAN 14 list of pdbs: 14 4G2I pdb_description: 26-Sep-12 X-ray 1.800 Structural basis for the accommodation of bis- and tris-arom derivatives in vitamin d nuclear receptor 14 3VHW pdb_description: 06-Mar-13 X-ray 2.430 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 4-mp 14 3TKC pdb_description: 07-Mar-12 X-ray 1.750 Design, synthesis, evaluation and structure of vitamin d ana with furan side chains 14 3P8X pdb_description: 31-Aug-11 X-ray 1.700 Synthesis, structure, and biological activity of des-side ch analogues of 1alpha,25-dihydroxyvitamin d3 with substituent 14 3OGT pdb_description: 17-Aug-11 X-ray 1.750 Design, chemical synthesis, functional characterization and structure of the sidechain analogue of 1,25-dihydroxyvitami 14 3M7R pdb_description: 05-May-10 X-ray 1.800 Crystal structure of vdr h305q mutant 14 3KPZ pdb_description: 12-Oct-11 X-ray 1.900 Crystal structure of a novel vitamin d3 analogue, zk203278 s dissociated profile 14 3CS6 pdb_description: 27-May-08 X-ray 1.800 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 14 3CS4 pdb_description: 27-May-08 X-ray 2.000 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 14 3B0T pdb_description: 10-Aug-11 X-ray 1.300 Human vdr ligand binding domain in complex with maxacalcitol 14 3AZ3 pdb_description: 02-Nov-11 X-ray 1.360 Crystal structure analysis of vitamin d receptor 14 3AZ2 pdb_description: 02-Nov-11 X-ray 1.690 Crystal structure analysis of vitamin d receptor 14 3AZ1 pdb_description: 02-Nov-11 X-ray 1.500 Crystal structure analysis of vitamin d receptor 14 3AX8 pdb_description: 05-Oct-11 X-ray 2.600 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 15alpha-methoxy-1alpha,25-dihydroxyvi 14 3AUR pdb_description: 14-Sep-11 X-ray 2.210 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 14 3AUQ pdb_description: 14-Sep-11 X-ray 2.640 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 14 3A78 pdb_description: 13-Oct-10 X-ray 1.900 Crystal structure of the human vdr ligand binding domain bou natural metabolite 1alpha,25-dihydroxy-3-epi-vitamin d3 14 3A40 pdb_description: 02-Feb-10 X-ray 1.450 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277b(c23r) 14 3A3Z pdb_description: 02-Feb-10 X-ray 1.720 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277a(c23s) 14 3A2J pdb_description: 26-May-10 X-ray 2.700 Crystal structure of the human vitamin d receptor (h305f/h39 binding domain complexed with tei-9647 14 3A2I pdb_description: 26-May-10 X-ray 3.270 Crystal structure of the human vitamin d receptor (h305f) li binding domain complexed with tei-9647 14 2HB8 pdb_description: 29-Aug-06 X-ray 2.000 Crystal structure of vdr lbd in complex with 2alpha-methyl calcitriol 14 2HB7 pdb_description: 29-Aug-06 X-ray 1.800 Crystal structure of vdr lbd in complex with 2alpha(3- hydroxy-1-propyl) calcitriol 14 2HAS pdb_description: 29-Aug-06 X-ray 1.960 Crystal structure of vdr lbd in complex with 2alpha-(1- propoxy) calcitriol 14 2HAR pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd in complex with 2 alpha-(3- hydroxy-1-propoxy) calcitriol 14 2HAM pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd complexed to 2alpha-propyl- calcitriol 14 1TXI pdb_description: 10-May-05 X-ray 1.900 Crystal structure of the vdr ligand binding domain complexed to tx522 14 1S19 pdb_description: 13-Apr-04 X-ray 2.100 Crystal structure of vdr ligand binding domain complexed to calcipotriol. 14 1S0Z pdb_description: 13-Apr-04 X-ray 2.500 Crystal structure of the vdr lbd complexed to seocalcitol. 14 1KB6 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to rat osteocalcin (oc) response element 14 1KB4 pdb_description: 03-May-02 X-ray 2.800 Crystal structure of vdr DNA-binding domain bound to a canonical direct repeat with three base pair spacer (dr3) response element 14 1KB2 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to mouse osteopontin (spp) response element 14 1IE9 pdb_description: 16-May-01 X-ray 1.400 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to mc1288 14 1IE8 pdb_description: 16-May-01 X-ray 1.520 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to kh1060 14 1DB1 pdb_description: 31-Jan-00 X-ray 1.800 Crystal structure of the nuclear receptor for vitamin d complexed to vitamin d 14 1YNW pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure of vitamin d receptor and 9-cis retinoic a receptor DNA-binding domains bound to a dr3 response elemen 14 Zimmer Variants: 14 chr12:48272895:A:G 1284_2_1_M->T 14 HGMD Variants: 14 chr12:48238747:G:A 1284_1066_356_Q->* 14 chr12:48240193:G:A 1284_949_317_Q->* 14 chr12:48240462:G:T 1284_885_295_Y->* 14 chr12:48251295:G:A 1284_454_152_Q->* 14 chr12:48258890:G:A 1284_217_73_R->* 14 chr12:48258959:G:A 1284_148_50_R->* 14 chr12:48272809:G:A 1284_88_30_R->* 14 chr12:48238554:T:G 1284_1259_420_E->A 14 chr12:48238555:C:T 1284_1258_420_E->K 14 chr12:48238641:C:T 1284_1172_391_R->H 14 chr12:48238642:G:A 1284_1171_391_R->C 14 chr12:48238642:G:T 1284_1171_391_R->S 14 chr12:48238777:C:T 1284_1036_346_V->M 14 chr12:48238786:G:A 1284_1027_343_R->C 14 chr12:48240157:C:T 1284_985_329_E->K 14 chr12:48240186:C:A 1284_956_319_G->V 14 chr12:48240201:A:C 1284_941_314_I->S 14 chr12:48240227:G:C 1284_915_305_H->Q 14 chr12:48240491:A:G 1284_856_286_W->R 14 chr12:48240521:T:A 1284_826_276_N->Y 14 chr12:48240526:C:T 1284_821_274_R->H 14 chr12:48240526:C:A 1284_821_274_R->L 14 chr12:48240544:A:G 1284_803_268_I->T 14 chr12:48240559:A:C 1284_788_263_L->R 14 chr12:48240571:T:G 1284_776_259_Q->P 14 chr12:48240572:G:C 1284_775_259_Q->E 14 chr12:48249416:A:C 1284_752_251_F->C 14 chr12:48249488:A:G 1284_680_227_L->P 14 chr12:48250925:A:C 1284_570_190_C->W 14 chr12:48251023:G:A 1284_472_158_R->C 14 chr12:48251312:G:A 1284_437_146_T->I 14 chr12:48251319:C:T 1284_430_144_D->N 14 chr12:48258857:A:G 1284_250_84_C->R 14 chr12:48258868:C:T 1284_239_80_R->Q 14 chr12:48258889:C:T 1284_218_73_R->Q 14 chr12:48258927:G:C 1284_180_60_C->W 14 chr12:48258958:C:T 1284_149_50_R->Q 14 chr12:48272758:A:T 1284_139_47_F->I 14 chr12:48272760:C:T 1284_137_46_G->D 14 chr12:48272764:T:C 1284_133_45_K->E 14 chr12:48272775:C:T 1284_122_41_C->Y 14 chr12:48272792:G:C 1284_105_35_H->Q 14 chr12:48272799:C:T 1284_98_33_G->D 14 chr12:48272821:C:T 1284_76_26_V->M 14 chr12:48272895:A:G 1284_2_1_M->T 14 oneKG Variants: 14 chr12:48238692:G:C 1284_1121_374_P->R 0.000199681 14 chr12:48238704:C:T 1284_1109_370_R->H 0.000199681 14 chr12:48238728:G:A 1284_1085_362_T->I 0.00259585 14 chr12:48238740:C:T 1284_1073_358_R->H 0.000998403 14 chr12:48238765:C:T 1284_1048_350_A->T 0.000998403 14 chr12:48240126:A:G 1284_1016_339_V->A 0.000199681 14 chr12:48240127:C:T 1284_1015_339_V->I 0.000599042 14 chr12:48240460:C:T 1284_887_296_R->H 0.000199681 14 chr12:48240473:C:G 1284_874_292_D->H 0.000399361 14 chr12:48249443:A:G 1284_725_242_I->T 0.000199681 14 chr12:48249448:C:A 1284_720_240_K->N 0.000399361 14 chr12:48249521:G:A 1284_647_216_S->F 0.000199681 14 chr12:48250920:G:C 1284_575_192_T->S 0.000199681 14 chr12:48250976:T:A 1284_519_173_R->S 0.000199681 14 chr12:48251032:G:T 1284_463_155_P->T 0.000199681 14 chr12:48258931:G:A 1284_176_59_T->I 0.000599042 14 chr12:48258951:C:A 1284_156_52_M->I 0.000199681 14 chr12:48272832:C:A 1284_65_22_R->L 0.000199681 14 chr12:48272844:C:T 1284_53_18_R->Q 0.000199681 14 chr12:48272845:G:A 1284_52_18_R->W 0.000399361 14 chr12:48272887:T:C 1284_10_4_M->V 0.00119808 14 chr12:48272895:A:G 1284_2_1_M->T 0.328474 14 na12878 Variants: 14 chr12:48272895:A:G 1284_2_1_M->T 14 snyder Variants: 14 chr12:48272895:A:G 1284_2_1_M->T 15 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111424_ENST00000549336 gene_Name: VDR_HUMAN 15 list of pdbs: 15 4G2I pdb_description: 26-Sep-12 X-ray 1.800 Structural basis for the accommodation of bis- and tris-arom derivatives in vitamin d nuclear receptor 15 3VHW pdb_description: 06-Mar-13 X-ray 2.430 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 4-mp 15 3TKC pdb_description: 07-Mar-12 X-ray 1.750 Design, synthesis, evaluation and structure of vitamin d ana with furan side chains 15 3P8X pdb_description: 31-Aug-11 X-ray 1.700 Synthesis, structure, and biological activity of des-side ch analogues of 1alpha,25-dihydroxyvitamin d3 with substituent 15 3OGT pdb_description: 17-Aug-11 X-ray 1.750 Design, chemical synthesis, functional characterization and structure of the sidechain analogue of 1,25-dihydroxyvitami 15 3M7R pdb_description: 05-May-10 X-ray 1.800 Crystal structure of vdr h305q mutant 15 3KPZ pdb_description: 12-Oct-11 X-ray 1.900 Crystal structure of a novel vitamin d3 analogue, zk203278 s dissociated profile 15 3CS6 pdb_description: 27-May-08 X-ray 1.800 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 15 3CS4 pdb_description: 27-May-08 X-ray 2.000 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 15 3B0T pdb_description: 10-Aug-11 X-ray 1.300 Human vdr ligand binding domain in complex with maxacalcitol 15 3AZ3 pdb_description: 02-Nov-11 X-ray 1.360 Crystal structure analysis of vitamin d receptor 15 3AZ2 pdb_description: 02-Nov-11 X-ray 1.690 Crystal structure analysis of vitamin d receptor 15 3AZ1 pdb_description: 02-Nov-11 X-ray 1.500 Crystal structure analysis of vitamin d receptor 15 3AX8 pdb_description: 05-Oct-11 X-ray 2.600 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 15alpha-methoxy-1alpha,25-dihydroxyvi 15 3AUR pdb_description: 14-Sep-11 X-ray 2.210 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 15 3AUQ pdb_description: 14-Sep-11 X-ray 2.640 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 15 3A78 pdb_description: 13-Oct-10 X-ray 1.900 Crystal structure of the human vdr ligand binding domain bou natural metabolite 1alpha,25-dihydroxy-3-epi-vitamin d3 15 3A40 pdb_description: 02-Feb-10 X-ray 1.450 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277b(c23r) 15 3A3Z pdb_description: 02-Feb-10 X-ray 1.720 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277a(c23s) 15 3A2J pdb_description: 26-May-10 X-ray 2.700 Crystal structure of the human vitamin d receptor (h305f/h39 binding domain complexed with tei-9647 15 3A2I pdb_description: 26-May-10 X-ray 3.270 Crystal structure of the human vitamin d receptor (h305f) li binding domain complexed with tei-9647 15 2HB8 pdb_description: 29-Aug-06 X-ray 2.000 Crystal structure of vdr lbd in complex with 2alpha-methyl calcitriol 15 2HB7 pdb_description: 29-Aug-06 X-ray 1.800 Crystal structure of vdr lbd in complex with 2alpha(3- hydroxy-1-propyl) calcitriol 15 2HAS pdb_description: 29-Aug-06 X-ray 1.960 Crystal structure of vdr lbd in complex with 2alpha-(1- propoxy) calcitriol 15 2HAR pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd in complex with 2 alpha-(3- hydroxy-1-propoxy) calcitriol 15 2HAM pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd complexed to 2alpha-propyl- calcitriol 15 1TXI pdb_description: 10-May-05 X-ray 1.900 Crystal structure of the vdr ligand binding domain complexed to tx522 15 1S19 pdb_description: 13-Apr-04 X-ray 2.100 Crystal structure of vdr ligand binding domain complexed to calcipotriol. 15 1S0Z pdb_description: 13-Apr-04 X-ray 2.500 Crystal structure of the vdr lbd complexed to seocalcitol. 15 1KB6 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to rat osteocalcin (oc) response element 15 1KB4 pdb_description: 03-May-02 X-ray 2.800 Crystal structure of vdr DNA-binding domain bound to a canonical direct repeat with three base pair spacer (dr3) response element 15 1KB2 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to mouse osteopontin (spp) response element 15 1IE9 pdb_description: 16-May-01 X-ray 1.400 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to mc1288 15 1IE8 pdb_description: 16-May-01 X-ray 1.520 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to kh1060 15 1DB1 pdb_description: 31-Jan-00 X-ray 1.800 Crystal structure of the nuclear receptor for vitamin d complexed to vitamin d 15 1YNW pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure of vitamin d receptor and 9-cis retinoic a receptor DNA-binding domains bound to a dr3 response elemen 15 Zimmer Variants: 15 chr12:48272895:A:G 1284_2_1_M->T 15 HGMD Variants: 15 chr12:48238747:G:A 1284_1066_356_Q->* 15 chr12:48240193:G:A 1284_949_317_Q->* 15 chr12:48240462:G:T 1284_885_295_Y->* 15 chr12:48251295:G:A 1284_454_152_Q->* 15 chr12:48258890:G:A 1284_217_73_R->* 15 chr12:48258959:G:A 1284_148_50_R->* 15 chr12:48272809:G:A 1284_88_30_R->* 15 chr12:48238554:T:G 1284_1259_420_E->A 15 chr12:48238555:C:T 1284_1258_420_E->K 15 chr12:48238641:C:T 1284_1172_391_R->H 15 chr12:48238642:G:A 1284_1171_391_R->C 15 chr12:48238642:G:T 1284_1171_391_R->S 15 chr12:48238777:C:T 1284_1036_346_V->M 15 chr12:48238786:G:A 1284_1027_343_R->C 15 chr12:48240157:C:T 1284_985_329_E->K 15 chr12:48240186:C:A 1284_956_319_G->V 15 chr12:48240201:A:C 1284_941_314_I->S 15 chr12:48240227:G:C 1284_915_305_H->Q 15 chr12:48240491:A:G 1284_856_286_W->R 15 chr12:48240521:T:A 1284_826_276_N->Y 15 chr12:48240526:C:T 1284_821_274_R->H 15 chr12:48240526:C:A 1284_821_274_R->L 15 chr12:48240544:A:G 1284_803_268_I->T 15 chr12:48240559:A:C 1284_788_263_L->R 15 chr12:48240571:T:G 1284_776_259_Q->P 15 chr12:48240572:G:C 1284_775_259_Q->E 15 chr12:48249416:A:C 1284_752_251_F->C 15 chr12:48249488:A:G 1284_680_227_L->P 15 chr12:48250925:A:C 1284_570_190_C->W 15 chr12:48251023:G:A 1284_472_158_R->C 15 chr12:48251312:G:A 1284_437_146_T->I 15 chr12:48251319:C:T 1284_430_144_D->N 15 chr12:48258857:A:G 1284_250_84_C->R 15 chr12:48258868:C:T 1284_239_80_R->Q 15 chr12:48258889:C:T 1284_218_73_R->Q 15 chr12:48258927:G:C 1284_180_60_C->W 15 chr12:48258958:C:T 1284_149_50_R->Q 15 chr12:48272758:A:T 1284_139_47_F->I 15 chr12:48272760:C:T 1284_137_46_G->D 15 chr12:48272764:T:C 1284_133_45_K->E 15 chr12:48272775:C:T 1284_122_41_C->Y 15 chr12:48272792:G:C 1284_105_35_H->Q 15 chr12:48272799:C:T 1284_98_33_G->D 15 chr12:48272821:C:T 1284_76_26_V->M 15 chr12:48272895:A:G 1284_2_1_M->T 15 oneKG Variants: 15 chr12:48238692:G:C 1284_1121_374_P->R 0.000199681 15 chr12:48238704:C:T 1284_1109_370_R->H 0.000199681 15 chr12:48238728:G:A 1284_1085_362_T->I 0.00259585 15 chr12:48238740:C:T 1284_1073_358_R->H 0.000998403 15 chr12:48238765:C:T 1284_1048_350_A->T 0.000998403 15 chr12:48240126:A:G 1284_1016_339_V->A 0.000199681 15 chr12:48240127:C:T 1284_1015_339_V->I 0.000599042 15 chr12:48240460:C:T 1284_887_296_R->H 0.000199681 15 chr12:48240473:C:G 1284_874_292_D->H 0.000399361 15 chr12:48249443:A:G 1284_725_242_I->T 0.000199681 15 chr12:48249448:C:A 1284_720_240_K->N 0.000399361 15 chr12:48249521:G:A 1284_647_216_S->F 0.000199681 15 chr12:48250920:G:C 1284_575_192_T->S 0.000199681 15 chr12:48250976:T:A 1284_519_173_R->S 0.000199681 15 chr12:48251032:G:T 1284_463_155_P->T 0.000199681 15 chr12:48258931:G:A 1284_176_59_T->I 0.000599042 15 chr12:48258951:C:A 1284_156_52_M->I 0.000199681 15 chr12:48272832:C:A 1284_65_22_R->L 0.000199681 15 chr12:48272844:C:T 1284_53_18_R->Q 0.000199681 15 chr12:48272845:G:A 1284_52_18_R->W 0.000399361 15 chr12:48272887:T:C 1284_10_4_M->V 0.00119808 15 chr12:48272895:A:G 1284_2_1_M->T 0.328474 15 na12878 Variants: 15 chr12:48272895:A:G 1284_2_1_M->T 15 snyder Variants: 15 chr12:48272895:A:G 1284_2_1_M->T 16 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111424_ENST00000550325 gene_Name: VDR_HUMAN 16 list of pdbs: 16 4G2I pdb_description: 26-Sep-12 X-ray 1.800 Structural basis for the accommodation of bis- and tris-arom derivatives in vitamin d nuclear receptor 16 3VHW pdb_description: 06-Mar-13 X-ray 2.430 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 4-mp 16 3TKC pdb_description: 07-Mar-12 X-ray 1.750 Design, synthesis, evaluation and structure of vitamin d ana with furan side chains 16 3P8X pdb_description: 31-Aug-11 X-ray 1.700 Synthesis, structure, and biological activity of des-side ch analogues of 1alpha,25-dihydroxyvitamin d3 with substituent 16 3OGT pdb_description: 17-Aug-11 X-ray 1.750 Design, chemical synthesis, functional characterization and structure of the sidechain analogue of 1,25-dihydroxyvitami 16 3M7R pdb_description: 05-May-10 X-ray 1.800 Crystal structure of vdr h305q mutant 16 3KPZ pdb_description: 12-Oct-11 X-ray 1.900 Crystal structure of a novel vitamin d3 analogue, zk203278 s dissociated profile 16 3CS6 pdb_description: 27-May-08 X-ray 1.800 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 16 3CS4 pdb_description: 27-May-08 X-ray 2.000 Structure-based design of a superagonist ligand for the vitamin d nuclear receptor 16 3B0T pdb_description: 10-Aug-11 X-ray 1.300 Human vdr ligand binding domain in complex with maxacalcitol 16 3AZ3 pdb_description: 02-Nov-11 X-ray 1.360 Crystal structure analysis of vitamin d receptor 16 3AZ2 pdb_description: 02-Nov-11 X-ray 1.690 Crystal structure analysis of vitamin d receptor 16 3AZ1 pdb_description: 02-Nov-11 X-ray 1.500 Crystal structure analysis of vitamin d receptor 16 3AX8 pdb_description: 05-Oct-11 X-ray 2.600 Crystal structure of the human vitamin d receptor ligand bin domain complexed with 15alpha-methoxy-1alpha,25-dihydroxyvi 16 3AUR pdb_description: 14-Sep-11 X-ray 2.210 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 16 3AUQ pdb_description: 14-Sep-11 X-ray 2.640 Crystal structure of the human vitamin d receptor ligand bin domain complexed with yne-diene type analog of active 14-ep methyl-19-norvitamin d3 16 3A78 pdb_description: 13-Oct-10 X-ray 1.900 Crystal structure of the human vdr ligand binding domain bou natural metabolite 1alpha,25-dihydroxy-3-epi-vitamin d3 16 3A40 pdb_description: 02-Feb-10 X-ray 1.450 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277b(c23r) 16 3A3Z pdb_description: 02-Feb-10 X-ray 1.720 Crystal structure of the human vdr ligand binding domain bou synthetic agonist compound 2alpha-methyl-amcr277a(c23s) 16 3A2J pdb_description: 26-May-10 X-ray 2.700 Crystal structure of the human vitamin d receptor (h305f/h39 binding domain complexed with tei-9647 16 3A2I pdb_description: 26-May-10 X-ray 3.270 Crystal structure of the human vitamin d receptor (h305f) li binding domain complexed with tei-9647 16 2HB8 pdb_description: 29-Aug-06 X-ray 2.000 Crystal structure of vdr lbd in complex with 2alpha-methyl calcitriol 16 2HB7 pdb_description: 29-Aug-06 X-ray 1.800 Crystal structure of vdr lbd in complex with 2alpha(3- hydroxy-1-propyl) calcitriol 16 2HAS pdb_description: 29-Aug-06 X-ray 1.960 Crystal structure of vdr lbd in complex with 2alpha-(1- propoxy) calcitriol 16 2HAR pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd in complex with 2 alpha-(3- hydroxy-1-propoxy) calcitriol 16 2HAM pdb_description: 29-Aug-06 X-ray 1.900 Crystal structure of vdr lbd complexed to 2alpha-propyl- calcitriol 16 1TXI pdb_description: 10-May-05 X-ray 1.900 Crystal structure of the vdr ligand binding domain complexed to tx522 16 1S19 pdb_description: 13-Apr-04 X-ray 2.100 Crystal structure of vdr ligand binding domain complexed to calcipotriol. 16 1S0Z pdb_description: 13-Apr-04 X-ray 2.500 Crystal structure of the vdr lbd complexed to seocalcitol. 16 1KB6 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to rat osteocalcin (oc) response element 16 1KB4 pdb_description: 03-May-02 X-ray 2.800 Crystal structure of vdr DNA-binding domain bound to a canonical direct repeat with three base pair spacer (dr3) response element 16 1KB2 pdb_description: 03-May-02 X-ray 2.700 Crystal structure of vdr DNA-binding domain bound to mouse osteopontin (spp) response element 16 1IE9 pdb_description: 16-May-01 X-ray 1.400 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to mc1288 16 1IE8 pdb_description: 16-May-01 X-ray 1.520 Crystal structure of the nuclear receptor for vitamin d ligand binding domain bound to kh1060 16 1DB1 pdb_description: 31-Jan-00 X-ray 1.800 Crystal structure of the nuclear receptor for vitamin d complexed to vitamin d 16 1YNW pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure of vitamin d receptor and 9-cis retinoic a receptor DNA-binding domains bound to a dr3 response elemen 16 Zimmer Variants: 16 chr12:48272895:A:G 1434_152_51_M->T 16 HGMD Variants: 16 chr12:48238747:G:A 1434_1216_406_Q->* 16 chr12:48240193:G:A 1434_1099_367_Q->* 16 chr12:48240462:G:T 1434_1035_345_Y->* 16 chr12:48251295:G:A 1434_604_202_Q->* 16 chr12:48258890:G:A 1434_367_123_R->* 16 chr12:48258959:G:A 1434_298_100_R->* 16 chr12:48272809:G:A 1434_238_80_R->* 16 chr12:48238554:T:G 1434_1409_470_E->A 16 chr12:48238555:C:T 1434_1408_470_E->K 16 chr12:48238641:C:T 1434_1322_441_R->H 16 chr12:48238642:G:A 1434_1321_441_R->C 16 chr12:48238642:G:T 1434_1321_441_R->S 16 chr12:48238777:C:T 1434_1186_396_V->M 16 chr12:48238786:G:A 1434_1177_393_R->C 16 chr12:48240157:C:T 1434_1135_379_E->K 16 chr12:48240186:C:A 1434_1106_369_G->V 16 chr12:48240201:A:C 1434_1091_364_I->S 16 chr12:48240227:G:C 1434_1065_355_H->Q 16 chr12:48240491:A:G 1434_1006_336_W->R 16 chr12:48240521:T:A 1434_976_326_N->Y 16 chr12:48240526:C:T 1434_971_324_R->H 16 chr12:48240526:C:A 1434_971_324_R->L 16 chr12:48240544:A:G 1434_953_318_I->T 16 chr12:48240559:A:C 1434_938_313_L->R 16 chr12:48240571:T:G 1434_926_309_Q->P 16 chr12:48240572:G:C 1434_925_309_Q->E 16 chr12:48249416:A:C 1434_902_301_F->C 16 chr12:48249488:A:G 1434_830_277_L->P 16 chr12:48250925:A:C 1434_720_240_C->W 16 chr12:48251023:G:A 1434_622_208_R->C 16 chr12:48251312:G:A 1434_587_196_T->I 16 chr12:48251319:C:T 1434_580_194_D->N 16 chr12:48258857:A:G 1434_400_134_C->R 16 chr12:48258868:C:T 1434_389_130_R->Q 16 chr12:48258889:C:T 1434_368_123_R->Q 16 chr12:48258927:G:C 1434_330_110_C->W 16 chr12:48258958:C:T 1434_299_100_R->Q 16 chr12:48272758:A:T 1434_289_97_F->I 16 chr12:48272760:C:T 1434_287_96_G->D 16 chr12:48272764:T:C 1434_283_95_K->E 16 chr12:48272775:C:T 1434_272_91_C->Y 16 chr12:48272792:G:C 1434_255_85_H->Q 16 chr12:48272799:C:T 1434_248_83_G->D 16 chr12:48272821:C:T 1434_226_76_V->M 16 chr12:48272895:A:G 1434_152_51_M->T 16 oneKG Variants: 16 chr12:48238692:G:C 1434_1271_424_P->R 0.000199681 16 chr12:48238704:C:T 1434_1259_420_R->H 0.000199681 16 chr12:48238728:G:A 1434_1235_412_T->I 0.00259585 16 chr12:48238740:C:T 1434_1223_408_R->H 0.000998403 16 chr12:48238765:C:T 1434_1198_400_A->T 0.000998403 16 chr12:48240126:A:G 1434_1166_389_V->A 0.000199681 16 chr12:48240127:C:T 1434_1165_389_V->I 0.000599042 16 chr12:48240460:C:T 1434_1037_346_R->H 0.000199681 16 chr12:48240473:C:G 1434_1024_342_D->H 0.000399361 16 chr12:48249443:A:G 1434_875_292_I->T 0.000199681 16 chr12:48249448:C:A 1434_870_290_K->N 0.000399361 16 chr12:48249521:G:A 1434_797_266_S->F 0.000199681 16 chr12:48250920:G:C 1434_725_242_T->S 0.000199681 16 chr12:48250976:T:A 1434_669_223_R->S 0.000199681 16 chr12:48251032:G:T 1434_613_205_P->T 0.000199681 16 chr12:48258931:G:A 1434_326_109_T->I 0.000599042 16 chr12:48258951:C:A 1434_306_102_M->I 0.000199681 16 chr12:48272832:C:A 1434_215_72_R->L 0.000199681 16 chr12:48272844:C:T 1434_203_68_R->Q 0.000199681 16 chr12:48272845:G:A 1434_202_68_R->W 0.000399361 16 chr12:48272887:T:C 1434_160_54_M->V 0.00119808 16 chr12:48272895:A:G 1434_152_51_M->T 0.328474 16 chr12:48276477:C:T 1434_148_50_G->R 0.000199681 16 chr12:48276510:G:C 1434_115_39_L->V 0.000199681 16 na12878 Variants: 16 chr12:48272895:A:G 1434_152_51_M->T 16 snyder Variants: 16 chr12:48272895:A:G 1434_152_51_M->T 17 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139219_ENST00000380518 gene_Name: CO2A1_HUMAN 17 list of pdbs: 17 1U5M pdb_description: 05-Oct-04 NMR 20 Structure of a chordin-like cysteine-rich repeat (vwc module) from collagen iia 17 2SEB pdb_description: 28-Jan-98 X-ray 2.500 X-ray crystal structure of hla-dr4 complexed with a peptide collagen ii 17 2FSE pdb_description: 19-Sep-06 X-ray 3.100 Crystallographic structure of a rheumatoid arthritis mhc susceptibility allele, hla-dr1 (drb1 0101), Complexed with the immunodominant determinant of human type ii collagen 17 Zimmer Variants: 17 chr12:48398080:T:A 4464_25_9_T->S;HUB=PPI;GNEG=Yes;GENE=COL2A1;CDSS=4;DBRECUR=COL2A1 17 HGMD Variants: 17 chr12:48367231:G:A 4464_4423_1475_Q->* 17 chr12:48367315:T:A 4464_4339_1447_K->* 17 chr12:48367319:C:T 4464_4335_1445_W->* 17 chr12:48367875:G:T 4464_4314_1438_C->* 17 chr12:48369108:C:T 4464_3878_1293_W->* 17 chr12:48369272:G:T 4464_3714_1238_Y->* 17 chr12:48369277:G:A 4464_3709_1237_Q->* 17 chr12:48369769:G:A 4464_3574_1192_R->* 17 chr12:48370932:G:A 4464_3280_1094_Q->* 17 chr12:48371798:G:A 4464_3106_1036_R->* 17 chr12:48372406:C:A 4464_2869_957_G->* 17 chr12:48372436:G:A 4464_2839_947_Q->* 17 chr12:48372481:G:A 4464_2794_932_R->* 17 chr12:48373812:G:A 4464_2659_887_R->* 17 chr12:48373818:C:A 4464_2653_885_G->* 17 chr12:48374742:C:A 4464_2473_825_G->* 17 chr12:48374748:C:A 4464_2467_823_E->* 17 chr12:48375892:G:A 4464_2353_785_R->* 17 chr12:48376708:C:A 4464_2116_706_E->* 17 chr12:48376723:G:A 4464_2101_701_R->* 17 chr12:48377504:G:A 4464_1957_653_R->* 17 chr12:48378834:G:A 4464_1777_593_Q->* 17 chr12:48379337:G:A 4464_1714_572_Q->* 17 chr12:48379594:G:A 4464_1597_533_R->* 17 chr12:48383582:G:A 4464_1030_344_R->* 17 chr12:48389687:G:A 4464_625_209_R->* 17 chr12:48390384:C:A 4464_556_186_G->* 17 chr12:48393736:G:T 4464_258_86_C->* 17 chr12:48393802:G:T 4464_192_64_C->* 17 chr12:48393853:C:T 4464_141_47_W->* 17 chr12:48393871:A:T 4464_123_41_Y->* 17 chr12:48367201:A:C 4464_4453_1485_C->G 17 chr12:48367249:C:G 4464_4405_1469_D->H 17 chr12:48367305:A:G 4464_4349_1450_I->T 17 chr12:48367305:A:T 4464_4349_1450_I->N 17 chr12:48367312:T:G 4464_4342_1448_T->P 17 chr12:48367873:G:A 4464_4316_1439_T->M 17 chr12:48367993:T:C 4464_4196_1399_Y->C 17 chr12:48368017:T:C 4464_4172_1391_Y->C 17 chr12:48368020:G:T 4464_4169_1390_T->N 17 chr12:48368041:G:A 4464_4148_1383_T->M 17 chr12:48368567:G:A 4464_3965_1322_T->I 17 chr12:48368567:G:T 4464_3965_1322_T->N 17 chr12:48368618:C:T 4464_3914_1305_G->D 17 chr12:48368640:A:T 4464_3892_1298_Y->N 17 chr12:48369160:G:A 4464_3826_1276_R->C 17 chr12:48369388:C:T 4464_3598_1200_G->S 17 chr12:48369388:C:A 4464_3598_1200_G->C 17 chr12:48369754:C:T 4464_3589_1197_G->S 17 chr12:48369780:C:T 4464_3563_1188_G->D 17 chr12:48369780:C:G 4464_3563_1188_G->A 17 chr12:48369781:C:G 4464_3562_1188_G->R 17 chr12:48369798:C:T 4464_3545_1182_G->D 17 chr12:48369808:C:T 4464_3535_1179_G->R 17 chr12:48369816:C:A 4464_3527_1176_G->V 17 chr12:48369817:C:T 4464_3526_1176_G->S 17 chr12:48369826:C:G 4464_3517_1173_G->R 17 chr12:48369835:C:T 4464_3508_1170_G->S 17 chr12:48369853:C:T 4464_3490_1164_G->S 17 chr12:48369853:C:A 4464_3490_1164_G->C 17 chr12:48370313:C:G 4464_3473_1158_G->A 17 chr12:48370322:C:A 4464_3464_1155_G->V 17 chr12:48370331:C:T 4464_3455_1152_G->D 17 chr12:48370603:C:T 4464_3427_1143_G->S 17 chr12:48370603:C:A 4464_3427_1143_G->C 17 chr12:48370638:C:G 4464_3392_1131_G->A 17 chr12:48370647:C:A 4464_3383_1128_G->V 17 chr12:48370666:C:T 4464_3364_1122_G->R 17 chr12:48370675:C:T 4464_3355_1119_G->R 17 chr12:48370693:C:A 4464_3337_1113_G->C 17 chr12:48370702:C:A 4464_3328_1110_G->C 17 chr12:48370929:C:T 4464_3283_1095_G->S 17 chr12:48371110:C:A 4464_3266_1089_G->V 17 chr12:48371119:C:A 4464_3257_1086_G->V 17 chr12:48371182:C:A 4464_3194_1065_G->V 17 chr12:48371191:C:G 4464_3185_1062_G->A 17 chr12:48371390:C:A 4464_3158_1053_G->V 17 chr12:48371390:C:T 4464_3158_1053_G->E 17 chr12:48371427:C:T 4464_3121_1041_G->S 17 chr12:48371854:C:A 4464_3050_1017_G->V 17 chr12:48371891:C:T 4464_3013_1005_G->S 17 chr12:48372103:T:C 4464_2974_992_R->G 17 chr12:48372112:G:A 4464_2965_989_R->C 17 chr12:48372120:G:A 4464_2957_986_P->L 17 chr12:48372136:C:T 4464_2941_981_G->S 17 chr12:48372172:C:T 4464_2905_969_G->S 17 chr12:48372432:C:T 4464_2843_948_G->D 17 chr12:48372442:C:T 4464_2833_945_G->S 17 chr12:48372468:C:T 4464_2807_936_G->D 17 chr12:48372514:C:G 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4464_1717_573_G->S 17 chr12:48379358:G:A 4464_1693_565_R->C 17 chr12:48379554:C:A 4464_1637_546_G->V 17 chr12:48379555:C:T 4464_1636_546_G->S 17 chr12:48379582:C:T 4464_1609_537_G->S 17 chr12:48379711:C:A 4464_1565_522_G->V 17 chr12:48379721:C:T 4464_1555_519_G->S 17 chr12:48379729:C:T 4464_1547_516_G->D 17 chr12:48379739:C:T 4464_1537_513_G->S 17 chr12:48379747:C:T 4464_1529_510_G->D 17 chr12:48380135:C:A 4464_1511_504_G->V 17 chr12:48380136:C:T 4464_1510_504_G->S 17 chr12:48380145:C:G 4464_1501_501_G->R 17 chr12:48380153:C:A 4464_1493_498_G->V 17 chr12:48380171:C:T 4464_1475_492_G->D 17 chr12:48380171:C:A 4464_1475_492_G->V 17 chr12:48380198:C:T 4464_1448_483_G->E 17 chr12:48380199:C:T 4464_1447_483_G->R 17 chr12:48380216:C:A 4464_1430_477_G->V 17 chr12:48380226:C:T 4464_1420_474_G->S 17 chr12:48380634:C:A 4464_1403_468_G->V 17 chr12:48380644:C:T 4464_1393_465_G->S 17 chr12:48380652:C:T 4464_1385_462_G->D 17 chr12:48380661:C:T 4464_1376_459_G->D 17 chr12:48380662:C:G 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chr12:48391489:C:A 4464_431_144_G->V 17 chr12:48393824:C:T 4464_170_57_C->Y 17 chr12:48398031:C:G 4464_74_25_G->A 17 chr12:48398102:C:A 4464_3_1_M->I 17 chr12:48398104:T:C 4464_1_1_M->V 17 oneKG Variants: 17 chr12:48367234:C:G 4464_4420_1474_E->Q 0.000199681 17 chr12:48367327:C:T 4464_4327_1443_G->S 0.00359425 17 chr12:48367900:G:A 4464_4289_1430_T->M 0.000199681 17 chr12:48367939:T:C 4464_4250_1417_N->S 0.000199681 17 chr12:48367942:G:A 4464_4247_1416_S->F 0.000199681 17 chr12:48367976:C:T 4464_4213_1405_G->S 0.170927 17 chr12:48368096:T:A 4464_4093_1365_N->Y 0.000199681 17 chr12:48368471:T:C 4464_4061_1354_N->S 0.000199681 17 chr12:48368513:T:C 4464_4019_1340_K->R 0.000199681 17 chr12:48368541:C:T 4464_3991_1331_V->I 0.0255591 17 chr12:48368601:T:C 4464_3931_1311_M->V 0.000199681 17 chr12:48368634:T:C 4464_3898_1300_I->V 0.000199681 17 chr12:48369100:C:G 4464_3886_1296_G->R 0.000199681 17 chr12:48369166:C:G 4464_3820_1274_G->R 0.000199681 17 chr12:48369229:C:T 4464_3757_1253_A->T 0.000199681 17 chr12:48369250:C:T 4464_3736_1246_G->S 0.000199681 17 chr12:48369271:T:C 4464_3715_1239_M->V 0.0 17 chr12:48369832:G:A 4464_3511_1171_P->S 0.000199681 17 chr12:48370337:T:A 4464_3449_1150_D->V 0.000199681 17 chr12:48370347:G:A 4464_3439_1147_P->S 0.000199681 17 chr12:48370892:C:T 4464_3320_1107_G->E 0.000199681 17 chr12:48371141:C:T 4464_3235_1079_A->T 0.000199681 17 chr12:48371149:G:A 4464_3227_1076_P->L 0.000199681 17 chr12:48371171:C:T 4464_3205_1069_A->T 0.000199681 17 chr12:48371397:C:T 4464_3151_1051_A->T 0.00159744 17 chr12:48371797:C:T 4464_3107_1036_R->Q 0.000599042 17 chr12:48371840:C:T 4464_3064_1022_V->M 0.000199681 17 chr12:48372421:G:T 4464_2854_952_P->T 0.00219649 17 chr12:48372444:G:A 4464_2831_944_P->L 0.00139776 17 chr12:48372456:C:T 4464_2819_940_R->Q 0.000599042 17 chr12:48372463:G:A 4464_2812_938_P->S 0.000199681 17 chr12:48372480:C:T 4464_2795_932_R->Q 0.000399361 17 chr12:48372525:G:A 4464_2750_917_P->L 0.000199681 17 chr12:48373316:C:T 4464_2711_904_R->H 0.000199681 17 chr12:48374342:G:A 4464_2620_874_P->S 0.000399361 17 chr12:48376668:C:T 4464_2156_719_R->H 0.000199681 17 chr12:48377199:G:A 4464_2018_673_P->L 0.000199681 17 chr12:48377898:G:A 4464_1913_638_T->I 0.00539137 17 chr12:48378854:C:T 4464_1757_586_R->H 0.000199681 17 chr12:48379542:C:A 4464_1649_550_R->L 0.000599042 17 chr12:48380213:G:A 4464_1433_478_P->L 0.00239617 17 chr12:48380889:G:A 4464_1337_446_T->I 0.000199681 17 chr12:48380926:G:A 4464_1300_434_P->S 0.000399361 17 chr12:48381091:G:T 4464_1227_409_N->K 0.000199681 17 chr12:48383058:C:A 4464_1075_359_V->F 0.000199681 17 chr12:48383545:G:A 4464_1067_356_P->L 0.000199681 17 chr12:48383573:C:T 4464_1039_347_D->N 0.000199681 17 chr12:48386662:G:A 4464_1022_341_A->V 0.000199681 17 chr12:48387251:G:A 4464_959_320_P->L 0.000399361 17 chr12:48387632:A:C 4464_884_295_L->R 0.000199681 17 chr12:48388220:G:A 4464_803_268_P->L 0.000599042 17 chr12:48390390:C:T 4464_550_184_A->T 0.000399361 17 chr12:48391394:C:T 4464_526_176_G->S 0.000199681 17 chr12:48391657:T:A 4464_426_142_E->D 0.0179712 17 chr12:48392205:C:A 4464_302_101_G->V 0.000199681 17 chr12:48398079:G:C 4464_26_9_T->R 0.0 17 chr12:48398080:T:A 4464_25_9_T->S 0.314696 17 chr12:48398088:G:T 4464_17_6_A->D 0.00119808 17 chr12:48398091:C:G 4464_14_5_G->A 0.000199681 17 na12878 Variants: 17 chr12:48398080:T:A 4464_25_9_T->S 17 snyder Variants: 17 chr12:48398080:T:A 4464_25_9_T->S 18 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139219_ENST00000337299 gene_Name: CO2A1_HUMAN 18 list of pdbs: 18 1U5M pdb_description: 05-Oct-04 NMR 20 Structure of a chordin-like cysteine-rich repeat (vwc module) from collagen iia 18 2SEB pdb_description: 28-Jan-98 X-ray 2.500 X-ray crystal structure of hla-dr4 complexed with a peptide collagen ii 18 2FSE pdb_description: 19-Sep-06 X-ray 3.100 Crystallographic structure of a rheumatoid arthritis mhc susceptibility allele, hla-dr1 (drb1 0101), Complexed with the immunodominant determinant of human type ii collagen 18 Zimmer Variants: 18 chr12:48398080:T:A 4257_25_9_T->S 18 HGMD Variants: 18 chr12:48367231:G:A 4257_4216_1406_Q->* 18 chr12:48367315:T:A 4257_4132_1378_K->* 18 chr12:48367319:C:T 4257_4128_1376_W->* 18 chr12:48367875:G:T 4257_4107_1369_C->* 18 chr12:48369108:C:T 4257_3671_1224_W->* 18 chr12:48369272:G:T 4257_3507_1169_Y->* 18 chr12:48369277:G:A 4257_3502_1168_Q->* 18 chr12:48369769:G:A 4257_3367_1123_R->* 18 chr12:48370932:G:A 4257_3073_1025_Q->* 18 chr12:48371798:G:A 4257_2899_967_R->* 18 chr12:48372406:C:A 4257_2662_888_G->* 18 chr12:48372436:G:A 4257_2632_878_Q->* 18 chr12:48372481:G:A 4257_2587_863_R->* 18 chr12:48373812:G:A 4257_2452_818_R->* 18 chr12:48373818:C:A 4257_2446_816_G->* 18 chr12:48374742:C:A 4257_2266_756_G->* 18 chr12:48374748:C:A 4257_2260_754_E->* 18 chr12:48375892:G:A 4257_2146_716_R->* 18 chr12:48376708:C:A 4257_1909_637_E->* 18 chr12:48376723:G:A 4257_1894_632_R->* 18 chr12:48377504:G:A 4257_1750_584_R->* 18 chr12:48378834:G:A 4257_1570_524_Q->* 18 chr12:48379337:G:A 4257_1507_503_Q->* 18 chr12:48379594:G:A 4257_1390_464_R->* 18 chr12:48383582:G:A 4257_823_275_R->* 18 chr12:48389687:G:A 4257_418_140_R->* 18 chr12:48390384:C:A 4257_349_117_G->* 18 chr12:48367201:A:C 4257_4246_1416_C->G 18 chr12:48367249:C:G 4257_4198_1400_D->H 18 chr12:48367305:A:G 4257_4142_1381_I->T 18 chr12:48367305:A:T 4257_4142_1381_I->N 18 chr12:48367312:T:G 4257_4135_1379_T->P 18 chr12:48367873:G:A 4257_4109_1370_T->M 18 chr12:48367993:T:C 4257_3989_1330_Y->C 18 chr12:48368017:T:C 4257_3965_1322_Y->C 18 chr12:48368020:G:T 4257_3962_1321_T->N 18 chr12:48368041:G:A 4257_3941_1314_T->M 18 chr12:48368567:G:A 4257_3758_1253_T->I 18 chr12:48368567:G:T 4257_3758_1253_T->N 18 chr12:48368618:C:T 4257_3707_1236_G->D 18 chr12:48368640:A:T 4257_3685_1229_Y->N 18 chr12:48369160:G:A 4257_3619_1207_R->C 18 chr12:48369388:C:T 4257_3391_1131_G->S 18 chr12:48369388:C:A 4257_3391_1131_G->C 18 chr12:48369754:C:T 4257_3382_1128_G->S 18 chr12:48369780:C:T 4257_3356_1119_G->D 18 chr12:48369780:C:G 4257_3356_1119_G->A 18 chr12:48369781:C:G 4257_3355_1119_G->R 18 chr12:48369798:C:T 4257_3338_1113_G->D 18 chr12:48369808:C:T 4257_3328_1110_G->R 18 chr12:48369816:C:A 4257_3320_1107_G->V 18 chr12:48369817:C:T 4257_3319_1107_G->S 18 chr12:48369826:C:G 4257_3310_1104_G->R 18 chr12:48369835:C:T 4257_3301_1101_G->S 18 chr12:48369853:C:T 4257_3283_1095_G->S 18 chr12:48369853:C:A 4257_3283_1095_G->C 18 chr12:48370313:C:G 4257_3266_1089_G->A 18 chr12:48370322:C:A 4257_3257_1086_G->V 18 chr12:48370331:C:T 4257_3248_1083_G->D 18 chr12:48370603:C:T 4257_3220_1074_G->S 18 chr12:48370603:C:A 4257_3220_1074_G->C 18 chr12:48370638:C:G 4257_3185_1062_G->A 18 chr12:48370647:C:A 4257_3176_1059_G->V 18 chr12:48370666:C:T 4257_3157_1053_G->R 18 chr12:48370675:C:T 4257_3148_1050_G->R 18 chr12:48370693:C:A 4257_3130_1044_G->C 18 chr12:48370702:C:A 4257_3121_1041_G->C 18 chr12:48370929:C:T 4257_3076_1026_G->S 18 chr12:48371110:C:A 4257_3059_1020_G->V 18 chr12:48371119:C:A 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chr12:48387608:C:T 4257_701_234_G->D 18 chr12:48387611:G:A 4257_698_233_A->V 18 chr12:48387611:G:A 4257_698_233_A->V 18 chr12:48387802:C:T 4257_638_213_G->D 18 chr12:48387824:G:A 4257_616_206_R->C 18 chr12:48388215:C:G 4257_601_201_G->R 18 chr12:48388223:C:T 4257_593_198_G->D 18 chr12:48389081:C:T 4257_512_171_G->D 18 chr12:48389082:C:A 4257_511_171_G->C 18 chr12:48389536:C:A 4257_458_153_G->V 18 chr12:48389546:C:G 4257_448_150_G->R 18 chr12:48389665:C:T 4257_440_147_G->D 18 chr12:48389674:C:T 4257_431_144_G->D 18 chr12:48389683:C:T 4257_422_141_G->E 18 chr12:48389701:C:G 4257_404_135_G->A 18 chr12:48389701:C:A 4257_404_135_G->V 18 chr12:48391489:C:A 4257_224_75_G->V 18 chr12:48398031:C:G 4257_74_25_G->A 18 chr12:48398102:C:A 4257_3_1_M->I 18 chr12:48398104:T:C 4257_1_1_M->V 18 oneKG Variants: 18 chr12:48367234:C:G 4257_4213_1405_E->Q 0.000199681 18 chr12:48367327:C:T 4257_4120_1374_G->S 0.00359425 18 chr12:48367900:G:A 4257_4082_1361_T->M 0.000199681 18 chr12:48367939:T:C 4257_4043_1348_N->S 0.000199681 18 chr12:48367942:G:A 4257_4040_1347_S->F 0.000199681 18 chr12:48367976:C:T 4257_4006_1336_G->S 0.170927 18 chr12:48368096:T:A 4257_3886_1296_N->Y 0.000199681 18 chr12:48368471:T:C 4257_3854_1285_N->S 0.000199681 18 chr12:48368513:T:C 4257_3812_1271_K->R 0.000199681 18 chr12:48368541:C:T 4257_3784_1262_V->I 0.0255591 18 chr12:48368601:T:C 4257_3724_1242_M->V 0.000199681 18 chr12:48368634:T:C 4257_3691_1231_I->V 0.000199681 18 chr12:48369100:C:G 4257_3679_1227_G->R 0.000199681 18 chr12:48369166:C:G 4257_3613_1205_G->R 0.000199681 18 chr12:48369229:C:T 4257_3550_1184_A->T 0.000199681 18 chr12:48369250:C:T 4257_3529_1177_G->S 0.000199681 18 chr12:48369271:T:C 4257_3508_1170_M->V 0.0 18 chr12:48369832:G:A 4257_3304_1102_P->S 0.000199681 18 chr12:48370337:T:A 4257_3242_1081_D->V 0.000199681 18 chr12:48370347:G:A 4257_3232_1078_P->S 0.000199681 18 chr12:48370892:C:T 4257_3113_1038_G->E 0.000199681 18 chr12:48371141:C:T 4257_3028_1010_A->T 0.000199681 18 chr12:48371149:G:A 4257_3020_1007_P->L 0.000199681 18 chr12:48371171:C:T 4257_2998_1000_A->T 0.000199681 18 chr12:48371397:C:T 4257_2944_982_A->T 0.00159744 18 chr12:48371797:C:T 4257_2900_967_R->Q 0.000599042 18 chr12:48371840:C:T 4257_2857_953_V->M 0.000199681 18 chr12:48372421:G:T 4257_2647_883_P->T 0.00219649 18 chr12:48372444:G:A 4257_2624_875_P->L 0.00139776 18 chr12:48372456:C:T 4257_2612_871_R->Q 0.000599042 18 chr12:48372463:G:A 4257_2605_869_P->S 0.000199681 18 chr12:48372480:C:T 4257_2588_863_R->Q 0.000399361 18 chr12:48372525:G:A 4257_2543_848_P->L 0.000199681 18 chr12:48373316:C:T 4257_2504_835_R->H 0.000199681 18 chr12:48374342:G:A 4257_2413_805_P->S 0.000399361 18 chr12:48376668:C:T 4257_1949_650_R->H 0.000199681 18 chr12:48377199:G:A 4257_1811_604_P->L 0.000199681 18 chr12:48377898:G:A 4257_1706_569_T->I 0.00539137 18 chr12:48378854:C:T 4257_1550_517_R->H 0.000199681 18 chr12:48379542:C:A 4257_1442_481_R->L 0.000599042 18 chr12:48380213:G:A 4257_1226_409_P->L 0.00239617 18 chr12:48380889:G:A 4257_1130_377_T->I 0.000199681 18 chr12:48380926:G:A 4257_1093_365_P->S 0.000399361 18 chr12:48381091:G:T 4257_1020_340_N->K 0.000199681 18 chr12:48383058:C:A 4257_868_290_V->F 0.000199681 18 chr12:48383545:G:A 4257_860_287_P->L 0.000199681 18 chr12:48383573:C:T 4257_832_278_D->N 0.000199681 18 chr12:48386662:G:A 4257_815_272_A->V 0.000199681 18 chr12:48387251:G:A 4257_752_251_P->L 0.000399361 18 chr12:48387632:A:C 4257_677_226_L->R 0.000199681 18 chr12:48388220:G:A 4257_596_199_P->L 0.000599042 18 chr12:48390390:C:T 4257_343_115_A->T 0.000399361 18 chr12:48391394:C:T 4257_319_107_G->S 0.000199681 18 chr12:48391657:T:A 4257_219_73_E->D 0.0179712 18 chr12:48392205:C:A 4257_95_32_G->V 0.000199681 18 chr12:48398079:G:C 4257_26_9_T->R 0.0 18 chr12:48398080:T:A 4257_25_9_T->S 0.314696 18 chr12:48398088:G:T 4257_17_6_A->D 0.00119808 18 chr12:48398091:C:G 4257_14_5_G->A 0.000199681 18 na12878 Variants: 18 chr12:48398080:T:A 4257_25_9_T->S 18 snyder Variants: 18 chr12:48398080:T:A 4257_25_9_T->S 19 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000187498_ENST00000375820 gene_Name: CO4A1_HUMAN 19 list of pdbs: 19 1LI1 pdb_description: 22-May-02 X-ray 1.900 The 1.9-a crystal structure of the noncollagenous (nc1) domain of human placenta collagen iv shows stabilization via a novel type of covalent met-lys cross-link 19 Zimmer Variants: 19 chr13:110839550:T:G 5010_1663_555_T->P;HUB=PPI;GNEG=Yes;GENE=COL4A1;CDSS=4 19 chr13:110959356:C:G 5010_19_7_V->L 19 HGMD Variants: 19 chr13:110804722:G:T 5010_4887_1629_Y->* 19 chr13:110804728:G:C 5010_4881_1627_N->K 19 chr13:110804766:C:T 5010_4843_1615_E->K 19 chr13:110807647:C:G 5010_4738_1580_G->R 19 chr13:110814772:C:G 5010_4267_1423_G->R 19 chr13:110817209:C:T 5010_4150_1384_G->S 19 chr13:110817226:C:T 5010_4133_1378_G->D 19 chr13:110817328:C:G 5010_4031_1344_G->A 19 chr13:110818598:T:G 5010_4002_1334_Q->H 19 chr13:110818605:C:T 5010_3995_1332_G->D 19 chr13:110818624:C:T 5010_3976_1326_G->R 19 chr13:110819508:G:C 5010_3946_1316_Q->E 19 chr13:110819513:C:A 5010_3941_1314_G->V 19 chr13:110822056:C:G 5010_3796_1266_G->R 19 chr13:110822921:C:T 5010_3715_1239_G->R 19 chr13:110822924:G:A 5010_3712_1238_R->C 19 chr13:110822930:C:T 5010_3706_1236_G->R 19 chr13:110826810:C:T 5010_3389_1130_G->D 19 chr13:110826988:C:T 5010_3307_1103_G->R 19 chr13:110827050:C:T 5010_3245_1082_G->E 19 chr13:110827614:C:T 5010_3149_1050_G->E 19 chr13:110827633:C:G 5010_3130_1044_G->R 19 chr13:110827641:C:T 5010_3122_1041_G->E 19 chr13:110828783:T:C 5010_3046_1016_M->V 19 chr13:110828807:C:T 5010_3022_1008_G->R 19 chr13:110828824:C:T 5010_3005_1002_G->D 19 chr13:110828860:C:T 5010_2969_990_G->E 19 chr13:110829259:C:T 5010_2842_948_G->S 19 chr13:110830216:C:T 5010_2689_897_G->S 19 chr13:110830243:C:G 5010_2662_888_G->R 19 chr13:110830260:C:T 5010_2645_882_G->D 19 chr13:110830429:C:T 5010_2608_870_G->R 19 chr13:110831305:C:A 5010_2423_808_G->V 19 chr13:110831315:C:T 5010_2413_805_G->R 19 chr13:110831383:C:G 5010_2345_782_G->A 19 chr13:110831645:C:G 5010_2317_773_G->R 19 chr13:110831645:C:T 5010_2317_773_G->R 19 chr13:110831699:C:T 5010_2263_755_G->R 19 chr13:110831717:C:T 5010_2245_749_G->S 19 chr13:110833673:C:T 5010_2159_720_G->D 19 chr13:110833710:C:T 5010_2122_708_G->R 19 chr13:110835357:C:T 5010_2078_693_G->E 19 chr13:110835372:C:T 5010_2063_688_G->D 19 chr13:110835548:C:T 5010_1973_658_G->D 19 chr13:110835558:C:T 5010_1963_655_G->R 19 chr13:110838794:C:T 5010_1835_612_G->D 19 chr13:110839528:C:T 5010_1685_562_G->E 19 chr13:110839601:G:C 5010_1612_538_R->G 19 chr13:110839630:C:T 5010_1583_528_G->E 19 chr13:110839658:C:T 5010_1555_519_G->R 19 chr13:110844569:C:T 5010_1528_510_G->R 19 chr13:110844604:C:T 5010_1493_498_G->D 19 chr13:110844604:C:A 5010_1493_498_G->V 19 chr13:110850850:C:G 5010_1249_417_G->R 19 chr13:110853814:G:A 5010_1055_352_P->L 19 chr13:110862379:C:T 5010_563_188_G->E 19 chr13:110959374:T:A 5010_1_1_M->L 19 oneKG Variants: 19 chr13:110802780:G:A 5010_4940_1647_P->L 0.000199681 19 chr13:110804702:A:G 5010_4907_1636_I->T 0.000199681 19 chr13:110804709:C:T 5010_4900_1634_A->T 0.000199681 19 chr13:110807679:G:A 5010_4706_1569_P->L 0.000798722 19 chr13:110807706:A:G 5010_4679_1560_V->A 0.000199681 19 chr13:110807727:G:A 5010_4658_1553_A->V 0.00119808 19 chr13:110813652:G:C 5010_4527_1509_N->K 0.000199681 19 chr13:110813696:G:A 5010_4483_1495_R->C 0.000199681 19 chr13:110814598:G:A 5010_4441_1481_R->W 0.000199681 19 chr13:110814784:T:C 5010_4255_1419_R->G 0.000199681 19 chr13:110815830:A:G 5010_4229_1410_M->T 0.000399361 19 chr13:110817301:T:C 5010_4058_1353_D->G 0.000199681 19 chr13:110818590:G:A 5010_4010_1337_P->L 0.000199681 19 chr13:110818594:C:T 5010_4006_1336_V->I 0.000199681 19 chr13:110818598:T:G 5010_4002_1334_Q->H 0.288339 19 chr13:110818603:C:T 5010_3997_1333_D->N 0.000199681 19 chr13:110822076:G:C 5010_3776_1259_P->R 0.00219649 19 chr13:110822935:G:A 5010_3701_1234_P->L 0.000199681 19 chr13:110822944:G:A 5010_3692_1231_T->M 0.0 19 chr13:110822992:G:A 5010_3644_1215_P->L 0.000199681 19 chr13:110823002:T:A 5010_3634_1212_M->L 0.000199681 19 chr13:110826868:G:A 5010_3331_1111_P->S 0.000199681 19 chr13:110827593:A:G 5010_3170_1057_I->T 0.000199681 19 chr13:110828810:G:A 5010_3019_1007_P->S 0.000199681 19 chr13:110828821:G:A 5010_3008_1003_A->V 0.000199681 19 chr13:110828986:C:G 5010_2955_985_Q->H 0.00119808 19 chr13:110829316:C:T 5010_2785_929_V->I 0.000199681 19 chr13:110830236:G:A 5010_2669_890_P->L 0.000998403 19 chr13:110830258:C:T 5010_2647_883_V->I 0.00159744 19 chr13:110830413:G:C 5010_2624_875_P->R 0.000199681 19 chr13:110830495:G:C 5010_2542_848_Q->E 0.00119808 19 chr13:110830523:C:A 5010_2514_838_M->I 0.000399361 19 chr13:110831336:C:G 5010_2392_798_V->L 0.000399361 19 chr13:110831669:C:T 5010_2293_765_V->I 0.000199681 19 chr13:110831704:G:A 5010_2258_753_T->I 0.000199681 19 chr13:110835430:G:A 5010_2005_669_P->S 0.000199681 19 chr13:110835537:G:A 5010_1984_662_P->S 0.000199681 19 chr13:110835584:C:G 5010_1937_646_G->A 0.000199681 19 chr13:110838788:A:G 5010_1841_614_I->T 0.000199681 19 chr13:110838804:C:A 5010_1825_609_G->C 0.000199681 19 chr13:110838830:G:A 5010_1799_600_T->I 0.000199681 19 chr13:110838894:C:T 5010_1735_579_V->I 0.0 19 chr13:110839540:G:A 5010_1673_558_A->V 0.00698882 19 chr13:110839550:T:G 5010_1663_555_T->P 0.0 19 chr13:110844563:G:A 5010_1534_512_P->S 0.000199681 19 chr13:110845188:G:A 5010_1454_485_P->L 0.000199681 19 chr13:110845216:G:A 5010_1426_476_R->W 0.000199681 19 chr13:110847385:C:T 5010_1366_456_E->K 0.000199681 19 chr13:110850829:G:T 5010_1270_424_Q->K 0.000199681 19 chr13:110850838:G:A 5010_1261_421_P->S 0.000199681 19 chr13:110850889:G:T 5010_1210_404_P->T 0.000199681 19 chr13:110853814:G:A 5010_1055_352_P->L 0.000399361 19 chr13:110855918:C:G 5010_994_332_G->R 0.000199681 19 chr13:110855945:C:A 5010_967_323_G->C 0.000199681 19 chr13:110857746:G:A 5010_911_304_P->L 0.00379393 19 chr13:110857844:A:T 5010_900_300_S->R 0.000399361 19 chr13:110859047:C:T 5010_823_275_G->R 0.000199681 19 chr13:110861771:G:C 5010_619_207_P->A 0.000199681 19 chr13:110862489:A:C 5010_539_180_I->S 0.000199681 19 chr13:110862534:T:C 5010_494_165_H->R 0.00119808 19 chr13:110864256:G:A 5010_401_134_P->L 0.000199681 19 chr13:110864784:G:A 5010_367_123_P->S 0.000199681 19 chr13:110864804:G:A 5010_347_116_P->L 0.000199681 19 chr13:110864822:A:G 5010_329_110_I->T 0.000199681 19 chr13:110866346:G:A 5010_161_54_P->L 0.00179712 19 chr13:110895041:T:C 5010_125_42_H->R 0.000199681 19 chr13:110959356:C:G 5010_19_7_V->L 0.424121 19 na12878 Variants: 19 chr13:110839550:T:G 5010_1663_555_T->P 19 snyder Variants: 19 chr13:110839550:T:G 5010_1663_555_T->P 19 chr13:110818598:T:G 5010_4002_1334_Q->H 20 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139618_ENST00000380152 gene_Name: BRCA2_HUMAN 20 list of pdbs: 20 3EU7 pdb_description: 28-Jul-09 X-ray 2.200 Crystal structure of a palb2 / brca2 complex 20 1N0W pdb_description: 27-Nov-02 X-ray 1.700 Crystal structure of a rad51-brca2 brc repeat complex 20 Zimmer Variants: 20 chr13:32929387:T:C 10257_7397_2466_V->A 20 chr13:32906729:A:C 10257_1114_372_N->H 20 HGMD Variants: 20 chr13:32890607:G:T 10257_10_4_G->* 20 chr13:32893217:T:A 10257_71_24_L->* 20 chr13:32893238:G:A 10257_92_31_W->* 20 chr13:32893239:G:A 10257_93_31_W->* 20 chr13:32893243:G:T 10257_97_33_E->* 20 chr13:32893246:G:T 10257_100_34_E->* 20 chr13:32893279:G:T 10257_133_45_E->* 20 chr13:32893291:G:T 10257_145_49_E->* 20 chr13:32893317:C:G 10257_171_57_Y->* 20 chr13:32893318:G:T 10257_172_58_E->* 20 chr13:32893342:C:T 10257_196_66_Q->* 20 chr13:32893390:A:T 10257_244_82_K->* 20 chr13:32893396:C:T 10257_250_84_Q->* 20 chr13:32893419:C:G 10257_273_91_Y->* 20 chr13:32893419:C:A 10257_273_91_Y->* 20 chr13:32893420:C:T 10257_274_92_Q->* 20 chr13:32893435:G:T 10257_289_97_E->* 20 chr13:32893460:T:G 10257_314_105_L->* 20 chr13:32899292:T:A 10257_396_132_C->* 20 chr13:32900251:C:T 10257_439_147_Q->* 20 chr13:32900700:G:A 10257_581_194_W->* 20 chr13:32900701:G:A 10257_582_194_W->* 20 chr13:32905146:C:T 10257_772_258_Q->* 20 chr13:32905149:A:T 10257_775_259_R->* 20 chr13:32906424:C:G 10257_809_270_S->* 20 chr13:32906433:C:A 10257_818_273_S->* 20 chr13:32906495:G:T 10257_880_294_E->* 20 chr13:32906567:A:T 10257_952_318_K->* 20 chr13:32906576:C:T 10257_961_321_Q->* 20 chr13:32906718:C:A 10257_1103_368_S->* 20 chr13:32906732:C:T 10257_1117_373_Q->* 20 chr13:32906768:A:T 10257_1153_385_K->* 20 chr13:32906795:G:T 10257_1180_394_E->* 20 chr13:32906799:G:A 10257_1184_395_W->* 20 chr13:32906856:T:A 10257_1241_414_L->* 20 chr13:32906876:C:T 10257_1261_421_Q->* 20 chr13:32906940:C:A 10257_1325_442_S->* 20 chr13:32906942:G:T 10257_1327_443_E->* 20 chr13:32907014:A:T 10257_1399_467_K->* 20 chr13:32907038:G:T 10257_1423_475_E->* 20 chr13:32907143:G:T 10257_1528_510_E->* 20 chr13:32907209:G:T 10257_1594_532_E->* 20 chr13:32907255:C:A 10257_1640_547_S->* 20 chr13:32907285:T:G 10257_1670_557_L->* 20 chr13:32907304:G:A 10257_1689_563_W->* 20 chr13:32907363:T:A 10257_1748_583_L->* 20 chr13:32907415:T:A 10257_1800_600_Y->* 20 chr13:32907447:C:A 10257_1832_611_S->* 20 chr13:32907447:C:G 10257_1832_611_S->* 20 chr13:32907470:C:T 10257_1855_619_Q->* 20 chr13:32910587:C:T 10257_2095_699_Q->* 20 chr13:32910716:C:T 10257_2224_742_Q->* 20 chr13:32910723:C:G 10257_2231_744_S->* 20 chr13:32910758:C:T 10257_2266_756_Q->* 20 chr13:32910804:T:G 10257_2312_771_L->* 20 chr13:32910831:C:G 10257_2339_780_S->* 20 chr13:32910864:C:A 10257_2372_791_S->* 20 chr13:32910868:C:A 10257_2376_792_Y->* 20 chr13:32910901:T:G 10257_2409_803_Y->* 20 chr13:32910918:T:G 10257_2426_809_L->* 20 chr13:32910947:C:T 10257_2455_819_Q->* 20 chr13:32910963:T:G 10257_2471_824_L->* 20 chr13:32911029:C:G 10257_2537_846_S->* 20 chr13:32911104:C:A 10257_2612_871_S->* 20 chr13:32911240:T:A 10257_2748_916_C->* 20 chr13:32911322:A:T 10257_2830_944_K->* 20 chr13:32911404:T:G 10257_2912_971_L->* 20 chr13:32911442:G:T 10257_2950_984_E->* 20 chr13:32911471:G:A 10257_2979_993_W->* 20 chr13:32911482:T:A 10257_2990_997_L->* 20 chr13:32911535:A:T 10257_3043_1015_K->* 20 chr13:32911568:A:T 10257_3076_1026_K->* 20 chr13:32911595:G:T 10257_3103_1035_E->* 20 chr13:32911601:C:T 10257_3109_1037_Q->* 20 chr13:32911628:G:T 10257_3136_1046_E->* 20 chr13:32911650:T:G 10257_3158_1053_L->* 20 chr13:32911658:C:T 10257_3166_1056_Q->* 20 chr13:32911664:A:T 10257_3172_1058_K->* 20 chr13:32911757:C:T 10257_3265_1089_Q->* 20 chr13:32911775:C:T 10257_3283_1095_Q->* 20 chr13:32911788:C:G 10257_3296_1099_S->* 20 chr13:32911854:C:G 10257_3362_1121_S->* 20 chr13:32911897:C:A 10257_3405_1135_Y->* 20 chr13:32911934:C:T 10257_3442_1148_Q->* 20 chr13:32911947:T:G 10257_3455_1152_L->* 20 chr13:32912277:C:G 10257_3785_1262_S->* 20 chr13:32912304:C:G 10257_3812_1271_S->* 20 chr13:32912363:C:T 10257_3871_1291_Q->* 20 chr13:32912414:G:T 10257_3922_1308_E->* 20 chr13:32912450:G:T 10257_3958_1320_E->* 20 chr13:32912493:T:A 10257_4001_1334_L->* 20 chr13:32912703:C:G 10257_4211_1404_S->* 20 chr13:32912714:C:T 10257_4222_1408_Q->* 20 chr13:32912735:G:T 10257_4243_1415_E->* 20 chr13:32912846:C:T 10257_4354_1452_Q->* 20 chr13:32912932:T:G 10257_4440_1480_Y->* 20 chr13:32912957:A:T 10257_4465_1489_K->* 20 chr13:32913044:G:T 10257_4552_1518_E->* 20 chr13:32913140:G:T 10257_4648_1550_E->* 20 chr13:32913176:C:T 10257_4684_1562_Q->* 20 chr13:32913266:A:T 10257_4774_1592_K->* 20 chr13:32913351:T:G 10257_4859_1620_L->* 20 chr13:32913381:C:G 10257_4889_1630_S->* 20 chr13:32913381:C:A 10257_4889_1630_S->* 20 chr13:32913454:T:A 10257_4962_1654_C->* 20 chr13:32913457:C:A 10257_4965_1655_Y->* 20 chr13:32913457:C:G 10257_4965_1655_Y->* 20 chr13:32913464:C:T 10257_4972_1658_Q->* 20 chr13:32913593:C:T 10257_5101_1701_Q->* 20 chr13:32913599:G:T 10257_5107_1703_E->* 20 chr13:32913771:C:G 10257_5279_1760_S->* 20 chr13:32913778:T:A 10257_5286_1762_Y->* 20 chr13:32913783:C:G 10257_5291_1764_S->* 20 chr13:32913836:C:T 10257_5344_1782_Q->* 20 chr13:32913926:G:T 10257_5434_1812_E->* 20 chr13:32914061:G:T 10257_5569_1857_E->* 20 chr13:32914106:A:T 10257_5614_1872_K->* 20 chr13:32914118:G:T 10257_5626_1876_E->* 20 chr13:32914137:C:A 10257_5645_1882_S->* 20 chr13:32914137:C:G 10257_5645_1882_S->* 20 chr13:32914148:C:T 10257_5656_1886_Q->* 20 chr13:32914174:C:G 10257_5682_1894_Y->* 20 chr13:32914191:C:A 10257_5699_1900_S->* 20 chr13:32914191:C:G 10257_5699_1900_S->* 20 chr13:32914226:G:T 10257_5734_1912_E->* 20 chr13:32914231:T:A 10257_5739_1913_C->* 20 chr13:32914274:G:T 10257_5782_1928_E->* 20 chr13:32914281:T:A 10257_5789_1930_L->* 20 chr13:32914283:C:T 10257_5791_1931_Q->* 20 chr13:32914349:G:T 10257_5857_1953_E->* 20 chr13:32914356:C:G 10257_5864_1955_S->* 20 chr13:32914356:C:A 10257_5864_1955_S->* 20 chr13:32914401:C:A 10257_5909_1970_S->* 20 chr13:32914451:C:T 10257_5959_1987_Q->* 20 chr13:32914472:C:T 10257_5980_1994_Q->* 20 chr13:32914484:C:T 10257_5992_1998_Q->* 20 chr13:32914517:C:T 10257_6025_2009_Q->* 20 chr13:32914529:A:T 10257_6037_2013_K->* 20 chr13:32914550:G:T 10257_6058_2020_E->* 20 chr13:32914557:C:G 10257_6065_2022_S->* 20 chr13:32914574:G:T 10257_6082_2028_E->* 20 chr13:32914577:G:T 10257_6085_2029_E->* 20 chr13:32914616:C:T 10257_6124_2042_Q->* 20 chr13:32914629:C:A 10257_6137_2046_S->* 20 chr13:32914661:G:T 10257_6169_2057_G->* 20 chr13:32914731:T:G 10257_6239_2080_L->* 20 chr13:32914800:C:A 10257_6308_2103_S->* 20 chr13:32914851:C:G 10257_6359_2120_S->* 20 chr13:32914920:C:A 10257_6428_2143_S->* 20 chr13:32914961:C:T 10257_6469_2157_Q->* 20 chr13:32914982:C:T 10257_6490_2164_Q->* 20 chr13:32915033:G:T 10257_6541_2181_G->* 20 chr13:32915039:G:T 10257_6547_2183_E->* 20 chr13:32915049:C:A 10257_6557_2186_S->* 20 chr13:32915148:C:G 10257_6656_2219_S->* 20 chr13:32915207:G:T 10257_6715_2239_E->* 20 chr13:32915222:A:T 10257_6730_2244_K->* 20 chr13:32915292:C:A 10257_6800_2267_S->* 20 chr13:32920978:C:T 10257_6952_2318_R->* 20 chr13:32929014:C:T 10257_7024_2342_Q->* 20 chr13:32929050:C:T 10257_7060_2354_Q->* 20 chr13:32929105:C:G 10257_7115_2372_S->* 20 chr13:32929123:C:G 10257_7133_2378_S->* 20 chr13:32929170:A:T 10257_7180_2394_R->* 20 chr13:32929248:G:T 10257_7258_2420_E->* 20 chr13:32929251:C:T 10257_7261_2421_Q->* 20 chr13:32929256:T:A 10257_7266_2422_C->* 20 chr13:32929293:C:T 10257_7303_2435_Q->* 20 chr13:32929365:A:T 10257_7375_2459_K->* 20 chr13:32930582:C:T 10257_7453_2485_Q->* 20 chr13:32930591:A:T 10257_7462_2488_R->* 20 chr13:32930600:C:T 10257_7471_2491_Q->* 20 chr13:32930609:C:T 10257_7480_2494_R->* 20 chr13:32930624:C:T 10257_7495_2499_Q->* 20 chr13:32930630:C:T 10257_7501_2501_Q->* 20 chr13:32930687:C:T 10257_7558_2520_R->* 20 chr13:32930741:A:T 10257_7612_2538_K->* 20 chr13:32931999:C:T 10257_7738_2580_Q->* 20 chr13:32932018:G:A 10257_7757_2586_W->* 20 chr13:32932019:G:A 10257_7758_2586_W->* 20 chr13:32936710:G:A 10257_7856_2619_W->* 20 chr13:32936717:T:A 10257_7863_2621_Y->* 20 chr13:32936732:G:A 10257_7878_2626_W->* 20 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chr13:32950818:A:T 10257_8644_2882_K->* 20 chr13:32950851:C:T 10257_8677_2893_Q->* 20 chr13:32950854:C:T 10257_8680_2894_Q->* 20 chr13:32950869:C:T 10257_8695_2899_Q->* 20 chr13:32950881:G:T 10257_8707_2903_E->* 20 chr13:32953520:C:T 10257_8821_2941_Q->* 20 chr13:32953568:C:T 10257_8869_2957_Q->* 20 chr13:32953577:C:T 10257_8878_2960_Q->* 20 chr13:32953632:C:A 10257_8933_2978_S->* 20 chr13:32953650:C:G 10257_8951_2984_S->* 20 chr13:32953911:C:A 10257_8978_2993_S->* 20 chr13:32953924:T:G 10257_8991_2997_Y->* 20 chr13:32953940:G:T 10257_9007_3003_G->* 20 chr13:32953951:C:A 10257_9018_3006_Y->* 20 chr13:32954009:C:T 10257_9076_3026_Q->* 20 chr13:32954042:C:T 10257_9109_3037_Q->* 20 chr13:32954165:C:T 10257_9139_3047_Q->* 20 chr13:32954222:C:T 10257_9196_3066_Q->* 20 chr13:32954233:T:A 10257_9207_3069_C->* 20 chr13:32954273:A:T 10257_9247_3083_K->* 20 chr13:32954282:G:T 10257_9256_3086_G->* 20 chr13:32968845:T:G 10257_9276_3092_Y->* 20 chr13:32968855:G:T 10257_9286_3096_E->* 20 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10257_8432_2811_D->G 20 chr13:32944693:A:G 10257_8486_2829_Q->R 20 chr13:32944693:A:G 10257_8486_2829_Q->R 20 chr13:32944693:A:T 10257_8486_2829_Q->L 20 chr13:32944694:G:C 10257_8487_2829_Q->H 20 chr13:32945108:T:C 10257_8503_2835_S->P 20 chr13:32945123:A:G 10257_8518_2840_I->V 20 chr13:32945172:A:C 10257_8567_2856_E->A 20 chr13:32950876:G:A 10257_8702_2901_G->D 20 chr13:32953488:A:G 10257_8789_2930_N->S 20 chr13:32953529:A:T 10257_8830_2944_I->F 20 chr13:32953549:G:T 10257_8850_2950_K->N 20 chr13:32953550:G:A 10257_8851_2951_A->T 20 chr13:32953553:A:G 10257_8854_2952_M->V 20 chr13:32953592:G:T 10257_8893_2965_D->Y 20 chr13:32953640:G:A 10257_8941_2981_E->K 20 chr13:32953937:G:A 10257_9004_3002_E->K 20 chr13:32953939:A:T 10257_9006_3002_E->D 20 chr13:32953971:C:T 10257_9038_3013_T->I 20 chr13:32954034:A:G 10257_9101_3034_Q->R 20 chr13:32954037:A:G 10257_9104_3035_Y->C 20 chr13:32954037:A:C 10257_9104_3035_Y->S 20 chr13:32954049:C:T 10257_9116_3039_P->L 20 chr13:32954180:C:T 10257_9154_3052_R->W 20 chr13:32954181:G:A 10257_9155_3052_R->Q 20 chr13:32954189:C:T 10257_9163_3055_L->F 20 chr13:32954253:G:A 10257_9227_3076_G->E 20 chr13:32968840:G:A 10257_9271_3091_V->I 20 chr13:32968844:A:G 10257_9275_3092_Y->C 20 chr13:32968854:C:G 10257_9285_3095_D->E 20 chr13:32968861:T:C 10257_9292_3098_Y->H 20 chr13:32968922:T:C 10257_9353_3118_M->T 20 chr13:32968940:A:T 10257_9371_3124_N->I 20 chr13:32968994:A:G 10257_9425_3142_D->G 20 chr13:32971071:C:T 10257_9538_3180_L->F 20 chr13:32971119:A:G 10257_9586_3196_K->E 20 chr13:32971167:G:C 10257_9634_3212_G->R 20 chr13:32972396:C:T 10257_9746_3249_T->I 20 chr13:32972513:C:T 10257_9863_3288_T->I 20 chr13:32972525:C:T 10257_9875_3292_P->L 20 chr13:32972548:C:T 10257_9898_3300_P->S 20 chr13:32972557:A:T 10257_9907_3303_S->C 20 chr13:32972695:A:G 10257_10045_3349_T->A 20 chr13:32972852:C:T 10257_10202_3401_T->M 20 chr13:32972884:A:G 10257_10234_3412_I->V 20 oneKG Variants: 20 chr13:32929053:G:T 10257_7063_2355_E->* 0.000199681 20 chr13:32972626:A:T 10257_9976_3326_K->* 0.00439297 20 chr13:32890650:G:A 10257_53_18_R->H 0.000399361 20 chr13:32893271:A:G 10257_125_42_Y->C 0.000798722 20 chr13:32893321:C:G 10257_175_59_P->A 0.000199681 20 chr13:32893369:G:C 10257_223_75_A->P 0.000199681 20 chr13:32893403:T:C 10257_257_86_L->P 0.000599042 20 chr13:32899218:A:C 10257_322_108_N->H 0.000199681 20 chr13:32899248:C:T 10257_352_118_R->C 0.000599042 20 chr13:32899293:C:T 10257_397_133_P->S 0.000199681 20 chr13:32900249:T:C 10257_437_146_L->P 0.000199681 20 chr13:32900254:T:C 10257_442_148_C->R 0.000199681 20 chr13:32900279:A:G 10257_467_156_D->G 0.000399361 20 chr13:32905069:A:G 10257_695_232_Y->C 0.000199681 20 chr13:32905116:G:A 10257_742_248_A->T 0.000199681 20 chr13:32905128:G:A 10257_754_252_D->N 0.000199681 20 chr13:32906456:G:A 10257_841_281_D->N 0.000199681 20 chr13:32906480:A:C 10257_865_289_N->H 0.0736821 20 chr13:32906558:T:A 10257_943_315_C->S 0.00159744 20 chr13:32906579:A:C 10257_964_322_K->Q 0.000599042 20 chr13:32906593:C:A 10257_978_326_S->R 0.000199681 20 chr13:32906617:T:G 10257_1002_334_H->Q 0.000199681 20 chr13:32906655:A:G 10257_1040_347_Q->R 0.00239617 20 chr13:32906669:T:C 10257_1054_352_Y->H 0.000199681 20 chr13:32906700:A:T 10257_1085_362_D->V 0.000199681 20 chr13:32906729:A:C 10257_1114_372_N->H 0.249401 20 chr13:32906738:C:T 10257_1123_375_P->S 0.000998403 20 chr13:32906781:C:A 10257_1166_389_P->Q 0.000998403 20 chr13:32906788:G:C 10257_1173_391_L->F 0.000199681 20 chr13:32906826:A:T 10257_1211_404_N->I 0.000199681 20 chr13:32906847:T:C 10257_1232_411_I->T 0.000199681 20 chr13:32906914:C:A 10257_1299_433_N->K 0.000199681 20 chr13:32907062:G:A 10257_1447_483_A->T 0.000199681 20 chr13:32907079:A:G 10257_1464_488_I->M 0.000199681 20 chr13:32907129:T:C 10257_1514_505_I->T 0.000399361 20 chr13:32907215:G:A 10257_1600_534_E->K 0.000199681 20 chr13:32907218:G:T 10257_1603_535_A->S 0.000199681 20 chr13:32907233:C:G 10257_1618_540_L->V 0.000199681 20 chr13:32907359:A:C 10257_1744_582_T->P 0.000399361 20 chr13:32907378:A:G 10257_1763_588_N->S 0.000199681 20 chr13:32907407:A:G 10257_1792_598_T->A 0.000599042 20 chr13:32907413:T:C 10257_1798_600_Y->H 0.000998403 20 chr13:32910480:T:C 10257_1988_663_F->S 0.000199681 20 chr13:32910485:A:G 10257_1993_665_T->A 0.000199681 20 chr13:32910611:G:A 10257_2119_707_D->N 0.000199681 20 chr13:32910614:T:A 10257_2122_708_S->T 0.000199681 20 chr13:32910630:A:T 10257_2138_713_Q->L 0.00239617 20 chr13:32910648:A:G 10257_2156_719_N->S 0.000199681 20 chr13:32910678:T:C 10257_2186_729_I->T 0.000399361 20 chr13:32910725:A:G 10257_2233_745_K->E 0.000199681 20 chr13:32910842:A:G 10257_2350_784_M->V 0.00359425 20 chr13:32910980:A:G 10257_2488_830_N->D 0.000199681 20 chr13:32911081:T:A 10257_2589_863_N->K 0.000199681 20 chr13:32911100:A:G 10257_2608_870_I->V 0.000199681 20 chr13:32911187:A:G 10257_2695_899_N->D 0.000199681 20 chr13:32911278:T:C 10257_2786_929_L->S 0.00199681 20 chr13:32911295:G:A 10257_2803_935_D->N 0.000399361 20 chr13:32911330:T:G 10257_2838_946_D->E 0.000199681 20 chr13:32911341:T:A 10257_2849_950_V->D 0.000199681 20 chr13:32911412:G:A 10257_2920_974_D->N 0.000199681 20 chr13:32911418:T:A 10257_2926_976_S->T 0.00239617 20 chr13:32911419:C:T 10257_2927_976_S->F 0.00239617 20 chr13:32911438:A:G 10257_2946_982_I->M 0.000199681 20 chr13:32911452:A:T 10257_2960_987_N->I 0.00199681 20 chr13:32911463:A:G 10257_2971_991_N->D 0.0800719 20 chr13:32911547:C:G 10257_3055_1019_L->V 0.000199681 20 chr13:32911565:A:G 10257_3073_1025_K->E 0.000199681 20 chr13:32911572:G:A 10257_3080_1027_S->N 0.000199681 20 chr13:32911593:T:C 10257_3101_1034_I->T 0.000199681 20 chr13:32911677:C:T 10257_3185_1062_P->L 0.000199681 20 chr13:32911712:A:T 10257_3220_1074_S->C 0.000199681 20 chr13:32911743:G:A 10257_3251_1084_S->N 0.000199681 20 chr13:32911791:A:T 10257_3299_1100_N->I 0.000199681 20 chr13:32911822:A:C 10257_3330_1110_E->D 0.000199681 20 chr13:32911842:T:C 10257_3350_1117_I->T 0.000199681 20 chr13:32911857:G:A 10257_3365_1122_G->E 0.000199681 20 chr13:32911935:A:G 10257_3443_1148_Q->R 0.000199681 20 chr13:32911937:A:G 10257_3445_1149_M->V 0.000998403 20 chr13:32911971:G:A 10257_3479_1160_R->K 0.000199681 20 chr13:32912007:C:T 10257_3515_1172_S->L 0.000798722 20 chr13:32912121:A:T 10257_3629_1210_D->V 0.000199681 20 chr13:32912361:G:A 10257_3869_1290_C->Y 0.00339457 20 chr13:32912396:A:T 10257_3904_1302_T->S 0.000199681 20 chr13:32912534:T:A 10257_4042_1348_C->S 0.000199681 20 chr13:32912582:A:C 10257_4090_1364_I->L 0.00439297 20 chr13:32912655:C:A 10257_4163_1388_T->N 0.000199681 20 chr13:32912679:A:G 10257_4187_1396_Q->R 0.00199681 20 chr13:32912733:C:T 10257_4241_1414_T->M 0.00239617 20 chr13:32912744:A:G 10257_4252_1418_I->V 0.000199681 20 chr13:32912750:G:T 10257_4258_1420_D->Y 0.00399361 20 chr13:32912808:C:A 10257_4316_1439_A->D 0.000199681 20 chr13:32912846:C:G 10257_4354_1452_Q->E 0.000199681 20 chr13:32912868:A:G 10257_4376_1459_N->S 0.000199681 20 chr13:32913077:G:A 10257_4585_1529_G->R 0.000599042 20 chr13:32913162:C:G 10257_4670_1557_T->S 0.000199681 20 chr13:32913173:C:A 10257_4681_1561_H->N 0.00159744 20 chr13:32913177:A:C 10257_4685_1562_Q->P 0.000399361 20 chr13:32913271:A:C 10257_4779_1593_E->D 0.000998403 20 chr13:32913311:A:G 10257_4819_1607_I->V 0.000199681 20 chr13:32913444:C:T 10257_4952_1651_P->L 0.000199681 20 chr13:32913572:A:G 10257_5080_1694_R->G 0.000199681 20 chr13:32913587:G:A 10257_5095_1699_D->N 0.000599042 20 chr13:32913588:A:G 10257_5096_1699_D->G 0.000199681 20 chr13:32913596:C:T 10257_5104_1702_P->S 0.000199681 20 chr13:32913690:C:T 10257_5198_1733_S->F 0.00179712 20 chr13:32913804:G:A 10257_5312_1771_G->D 0.000199681 20 chr13:32913833:G:A 10257_5341_1781_D->N 0.000199681 20 chr13:32913906:A:G 10257_5414_1805_N->S 0.0 20 chr13:32913920:G:A 10257_5428_1810_V->I 0.000199681 20 chr13:32913987:C:G 10257_5495_1832_S->C 0.000199681 20 chr13:32914104:G:A 10257_5612_1871_S->N 0.000199681 20 chr13:32914127:G:A 10257_5635_1879_E->K 0.000199681 20 chr13:32914132:T:G 10257_5640_1880_N->K 0.00219649 20 chr13:32914175:G:A 10257_5683_1895_E->K 0.000199681 20 chr13:32914196:G:A 10257_5704_1902_D->N 0.0061901 20 chr13:32914200:T:C 10257_5708_1903_I->T 0.000199681 20 chr13:32914202:C:G 10257_5710_1904_L->V 0.000199681 20 chr13:32914236:C:T 10257_5744_1915_T->M 0.00858626 20 chr13:32914260:A:C 10257_5768_1923_D->A 0.000199681 20 chr13:32914277:A:G 10257_5785_1929_I->V 0.00139776 20 chr13:32914328:T:C 10257_5836_1946_S->P 0.000199681 20 chr13:32914461:A:C 10257_5969_1990_D->A 0.000199681 20 chr13:32914478:G:A 10257_5986_1996_A->T 0.00139776 20 chr13:32914592:C:T 10257_6100_2034_R->C 0.00139776 20 chr13:32914623:G:T 10257_6131_2044_G->V 0.000599042 20 chr13:32914649:T:C 10257_6157_2053_S->P 0.000199681 20 chr13:32914712:C:A 10257_6220_2074_H->N 0.00279553 20 chr13:32914723:G:C 10257_6231_2077_K->N 0.000199681 20 chr13:32914773:A:G 10257_6281_2094_Y->C 0.000199681 20 chr13:32914814:C:T 10257_6322_2108_R->C 0.00119808 20 chr13:32914815:G:A 10257_6323_2108_R->H 0.00379393 20 chr13:32914817:G:A 10257_6325_2109_V->I 0.000399361 20 chr13:32914839:A:G 10257_6347_2116_H->R 0.00678914 20 chr13:32914904:G:T 10257_6412_2138_V->F 0.00159744 20 chr13:32914933:C:G 10257_6441_2147_H->Q 0.000199681 20 chr13:32915130:C:T 10257_6638_2213_S->F 0.000199681 20 chr13:32915240:A:G 10257_6748_2250_T->A 0.000199681 20 chr13:32915258:T:C 10257_6766_2256_C->R 0.000199681 20 chr13:32915304:A:G 10257_6812_2271_K->R 0.000199681 20 chr13:32915307:G:A 10257_6815_2272_R->K 0.000199681 20 chr13:32915313:G:T 10257_6821_2274_G->V 0.000199681 20 chr13:32918739:A:C 10257_6886_2296_I->L 0.000399361 20 chr13:32918776:A:C 10257_6923_2308_K->T 0.000199681 20 chr13:32918788:A:T 10257_6935_2312_D->V 0.000199681 20 chr13:32920991:T:C 10257_6965_2322_M->T 0.000199681 20 chr13:32921009:A:C 10257_6983_2328_E->A 0.000199681 20 chr13:32929007:G:C 10257_7017_2339_K->N 0.00678914 20 chr13:32929042:C:G 10257_7052_2351_A->G 0.000798722 20 chr13:32929140:C:A 10257_7150_2384_Q->K 0.00139776 20 chr13:32929291:A:C 10257_7301_2434_K->T 0.000199681 20 chr13:32929309:A:G 10257_7319_2440_H->R 0.0103834 20 chr13:32929366:A:G 10257_7376_2459_K->R 0.000199681 20 chr13:32929380:C:G 10257_7390_2464_Q->E 0.000199681 20 chr13:32929387:T:C 10257_7397_2466_V->A 0.024161 20 chr13:32930567:T:G 10257_7438_2480_L->V 0.000399361 20 chr13:32930598:T:C 10257_7469_2490_I->T 0.0159744 20 chr13:32930633:C:T 10257_7504_2502_R->C 0.000399361 20 chr13:32930634:G:A 10257_7505_2502_R->H 0.000199681 20 chr13:32930676:C:T 10257_7547_2516_S->F 0.000199681 20 chr13:32930685:C:T 10257_7556_2519_P->L 0.000199681 20 chr13:32930730:C:T 10257_7601_2534_A->V 0.000599042 20 chr13:32931973:A:G 10257_7712_2571_E->G 0.000199681 20 chr13:32936719:A:G 10257_7865_2622_N->S 0.000199681 20 chr13:32936738:A:G 10257_7884_2628_I->M 0.000199681 20 chr13:32937333:A:G 10257_7994_2665_D->G 0.000199681 20 chr13:32937354:T:C 10257_8015_2672_I->T 0.000199681 20 chr13:32937399:T:C 10257_8060_2687_V->A 0.000199681 20 chr13:32937431:G:A 10257_8092_2698_A->T 0.0 20 chr13:32937443:G:C 10257_8104_2702_E->Q 0.000199681 20 chr13:32937456:A:G 10257_8117_2706_N->S 0.000798722 20 chr13:32937488:G:T 10257_8149_2717_A->S 0.000599042 20 chr13:32937521:G:A 10257_8182_2728_V->I 0.000599042 20 chr13:32937526:G:T 10257_8187_2729_K->N 0.00259585 20 chr13:32944570:G:T 10257_8363_2788_W->L 0.000199681 20 chr13:32945108:T:C 10257_8503_2835_S->P 0.00139776 20 chr13:32945130:G:A 10257_8525_2842_R->H 0.000199681 20 chr13:32945172:A:C 10257_8567_2856_E->A 0.000199681 20 chr13:32950860:C:T 10257_8686_2896_R->C 0.000199681 20 chr13:32950876:G:A 10257_8702_2901_G->D 0.000199681 20 chr13:32953529:A:T 10257_8830_2944_I->F 0.00898562 20 chr13:32953549:G:T 10257_8850_2950_K->N 0.00119808 20 chr13:32953550:G:A 10257_8851_2951_A->T 0.00998403 20 chr13:32953604:G:A 10257_8905_2969_V->M 0.000599042 20 chr13:32954039:C:G 10257_9106_3036_Q->E 0.000199681 20 chr13:32954261:G:A 10257_9235_3079_V->I 0.000599042 20 chr13:32968826:G:C 10257_9257_3086_G->A 0.000199681 20 chr13:32968861:T:C 10257_9292_3098_Y->H 0.000399361 20 chr13:32968922:T:C 10257_9353_3118_M->T 0.000199681 20 chr13:32968934:C:T 10257_9365_3122_A->V 0.000199681 20 chr13:32969015:G:C 10257_9446_3149_S->T 0.000199681 20 chr13:32971071:C:T 10257_9538_3180_L->F 0.000199681 20 chr13:32971119:A:G 10257_9586_3196_K->E 0.000199681 20 chr13:32971146:G:C 10257_9613_3205_A->P 0.000199681 20 chr13:32971147:C:T 10257_9614_3205_A->V 0.000199681 20 chr13:32971167:G:C 10257_9634_3212_G->R 0.00239617 20 chr13:32972327:A:G 10257_9677_3226_Y->C 0.000399361 20 chr13:32972340:A:T 10257_9690_3230_L->F 0.000199681 20 chr13:32972380:G:A 10257_9730_3244_V->I 0.00678914 20 chr13:32972522:C:G 10257_9872_3291_S->C 0.000199681 20 chr13:32972525:C:T 10257_9875_3292_P->L 0.000199681 20 chr13:32972549:C:A 10257_9899_3300_P->Q 0.000199681 20 chr13:32972647:C:G 10257_9997_3333_L->V 0.000199681 20 chr13:32972673:C:A 10257_10023_3341_D->E 0.000199681 20 chr13:32972683:G:A 10257_10033_3345_A->T 0.000199681 20 chr13:32972771:C:T 10257_10121_3374_T->I 0.000998403 20 chr13:32972852:C:T 10257_10202_3401_T->M 0.000199681 20 chr13:32972884:A:G 10257_10234_3412_I->V 0.0449281 20 chr13:32972899:T:C 10257_10249_3417_Y->H 0.000199681 20 na12878 Variants: 20 chr13:32929387:T:C 10257_7397_2466_V->A 20 snyder Variants: 20 chr13:32929387:T:C 10257_7397_2466_V->A 21 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139618_ENST00000544455 gene_Name: BRCA2_HUMAN 21 list of pdbs: 21 3EU7 pdb_description: 28-Jul-09 X-ray 2.200 Crystal structure of a palb2 / brca2 complex 21 1N0W pdb_description: 27-Nov-02 X-ray 1.700 Crystal structure of a rad51-brca2 brc repeat complex 21 Zimmer Variants: 21 chr13:32929387:T:C 10257_7397_2466_V->A;HUB=PPI;GNEG=Yes;GENE=BRCA2;CANG=[DNA_repair][actionable][cancer];CDSS=4;DBRECUR=BRCA2 21 chr13:32906729:A:C 10257_1114_372_N->H;HUB=PPI;GNEG=Yes;GENE=BRCA2;CANG=[DNA_repair][actionable][cancer];CDSS=3;DBRECUR=BRCA2 21 HGMD Variants: 21 chr13:32890607:G:T 10257_10_4_G->* 21 chr13:32893217:T:A 10257_71_24_L->* 21 chr13:32893238:G:A 10257_92_31_W->* 21 chr13:32893239:G:A 10257_93_31_W->* 21 chr13:32893243:G:T 10257_97_33_E->* 21 chr13:32893246:G:T 10257_100_34_E->* 21 chr13:32893279:G:T 10257_133_45_E->* 21 chr13:32893291:G:T 10257_145_49_E->* 21 chr13:32893317:C:G 10257_171_57_Y->* 21 chr13:32893318:G:T 10257_172_58_E->* 21 chr13:32893342:C:T 10257_196_66_Q->* 21 chr13:32893390:A:T 10257_244_82_K->* 21 chr13:32893396:C:T 10257_250_84_Q->* 21 chr13:32893419:C:G 10257_273_91_Y->* 21 chr13:32893419:C:A 10257_273_91_Y->* 21 chr13:32893420:C:T 10257_274_92_Q->* 21 chr13:32893435:G:T 10257_289_97_E->* 21 chr13:32893460:T:G 10257_314_105_L->* 21 chr13:32899292:T:A 10257_396_132_C->* 21 chr13:32900251:C:T 10257_439_147_Q->* 21 chr13:32900700:G:A 10257_581_194_W->* 21 chr13:32900701:G:A 10257_582_194_W->* 21 chr13:32905146:C:T 10257_772_258_Q->* 21 chr13:32905149:A:T 10257_775_259_R->* 21 chr13:32906424:C:G 10257_809_270_S->* 21 chr13:32906433:C:A 10257_818_273_S->* 21 chr13:32906495:G:T 10257_880_294_E->* 21 chr13:32906567:A:T 10257_952_318_K->* 21 chr13:32906576:C:T 10257_961_321_Q->* 21 chr13:32906718:C:A 10257_1103_368_S->* 21 chr13:32906732:C:T 10257_1117_373_Q->* 21 chr13:32906768:A:T 10257_1153_385_K->* 21 chr13:32906795:G:T 10257_1180_394_E->* 21 chr13:32906799:G:A 10257_1184_395_W->* 21 chr13:32906856:T:A 10257_1241_414_L->* 21 chr13:32906876:C:T 10257_1261_421_Q->* 21 chr13:32906940:C:A 10257_1325_442_S->* 21 chr13:32906942:G:T 10257_1327_443_E->* 21 chr13:32907014:A:T 10257_1399_467_K->* 21 chr13:32907038:G:T 10257_1423_475_E->* 21 chr13:32907143:G:T 10257_1528_510_E->* 21 chr13:32907209:G:T 10257_1594_532_E->* 21 chr13:32907255:C:A 10257_1640_547_S->* 21 chr13:32907285:T:G 10257_1670_557_L->* 21 chr13:32907304:G:A 10257_1689_563_W->* 21 chr13:32907363:T:A 10257_1748_583_L->* 21 chr13:32907415:T:A 10257_1800_600_Y->* 21 chr13:32907447:C:A 10257_1832_611_S->* 21 chr13:32907447:C:G 10257_1832_611_S->* 21 chr13:32907470:C:T 10257_1855_619_Q->* 21 chr13:32910587:C:T 10257_2095_699_Q->* 21 chr13:32910716:C:T 10257_2224_742_Q->* 21 chr13:32910723:C:G 10257_2231_744_S->* 21 chr13:32910758:C:T 10257_2266_756_Q->* 21 chr13:32910804:T:G 10257_2312_771_L->* 21 chr13:32910831:C:G 10257_2339_780_S->* 21 chr13:32910864:C:A 10257_2372_791_S->* 21 chr13:32910868:C:A 10257_2376_792_Y->* 21 chr13:32910901:T:G 10257_2409_803_Y->* 21 chr13:32910918:T:G 10257_2426_809_L->* 21 chr13:32910947:C:T 10257_2455_819_Q->* 21 chr13:32910963:T:G 10257_2471_824_L->* 21 chr13:32911029:C:G 10257_2537_846_S->* 21 chr13:32911104:C:A 10257_2612_871_S->* 21 chr13:32911240:T:A 10257_2748_916_C->* 21 chr13:32911322:A:T 10257_2830_944_K->* 21 chr13:32911404:T:G 10257_2912_971_L->* 21 chr13:32911442:G:T 10257_2950_984_E->* 21 chr13:32911471:G:A 10257_2979_993_W->* 21 chr13:32911482:T:A 10257_2990_997_L->* 21 chr13:32911535:A:T 10257_3043_1015_K->* 21 chr13:32911568:A:T 10257_3076_1026_K->* 21 chr13:32911595:G:T 10257_3103_1035_E->* 21 chr13:32911601:C:T 10257_3109_1037_Q->* 21 chr13:32911628:G:T 10257_3136_1046_E->* 21 chr13:32911650:T:G 10257_3158_1053_L->* 21 chr13:32911658:C:T 10257_3166_1056_Q->* 21 chr13:32911664:A:T 10257_3172_1058_K->* 21 chr13:32911757:C:T 10257_3265_1089_Q->* 21 chr13:32911775:C:T 10257_3283_1095_Q->* 21 chr13:32911788:C:G 10257_3296_1099_S->* 21 chr13:32911854:C:G 10257_3362_1121_S->* 21 chr13:32911897:C:A 10257_3405_1135_Y->* 21 chr13:32911934:C:T 10257_3442_1148_Q->* 21 chr13:32911947:T:G 10257_3455_1152_L->* 21 chr13:32912277:C:G 10257_3785_1262_S->* 21 chr13:32912304:C:G 10257_3812_1271_S->* 21 chr13:32912363:C:T 10257_3871_1291_Q->* 21 chr13:32912414:G:T 10257_3922_1308_E->* 21 chr13:32912450:G:T 10257_3958_1320_E->* 21 chr13:32912493:T:A 10257_4001_1334_L->* 21 chr13:32912703:C:G 10257_4211_1404_S->* 21 chr13:32912714:C:T 10257_4222_1408_Q->* 21 chr13:32912735:G:T 10257_4243_1415_E->* 21 chr13:32912846:C:T 10257_4354_1452_Q->* 21 chr13:32912932:T:G 10257_4440_1480_Y->* 21 chr13:32912957:A:T 10257_4465_1489_K->* 21 chr13:32913044:G:T 10257_4552_1518_E->* 21 chr13:32913140:G:T 10257_4648_1550_E->* 21 chr13:32913176:C:T 10257_4684_1562_Q->* 21 chr13:32913266:A:T 10257_4774_1592_K->* 21 chr13:32913351:T:G 10257_4859_1620_L->* 21 chr13:32913381:C:G 10257_4889_1630_S->* 21 chr13:32913381:C:A 10257_4889_1630_S->* 21 chr13:32913454:T:A 10257_4962_1654_C->* 21 chr13:32913457:C:A 10257_4965_1655_Y->* 21 chr13:32913457:C:G 10257_4965_1655_Y->* 21 chr13:32913464:C:T 10257_4972_1658_Q->* 21 chr13:32913593:C:T 10257_5101_1701_Q->* 21 chr13:32913599:G:T 10257_5107_1703_E->* 21 chr13:32913771:C:G 10257_5279_1760_S->* 21 chr13:32913778:T:A 10257_5286_1762_Y->* 21 chr13:32913783:C:G 10257_5291_1764_S->* 21 chr13:32913836:C:T 10257_5344_1782_Q->* 21 chr13:32913926:G:T 10257_5434_1812_E->* 21 chr13:32914061:G:T 10257_5569_1857_E->* 21 chr13:32914106:A:T 10257_5614_1872_K->* 21 chr13:32914118:G:T 10257_5626_1876_E->* 21 chr13:32914137:C:A 10257_5645_1882_S->* 21 chr13:32914137:C:G 10257_5645_1882_S->* 21 chr13:32914148:C:T 10257_5656_1886_Q->* 21 chr13:32914174:C:G 10257_5682_1894_Y->* 21 chr13:32914191:C:A 10257_5699_1900_S->* 21 chr13:32914191:C:G 10257_5699_1900_S->* 21 chr13:32914226:G:T 10257_5734_1912_E->* 21 chr13:32914231:T:A 10257_5739_1913_C->* 21 chr13:32914274:G:T 10257_5782_1928_E->* 21 chr13:32914281:T:A 10257_5789_1930_L->* 21 chr13:32914283:C:T 10257_5791_1931_Q->* 21 chr13:32914349:G:T 10257_5857_1953_E->* 21 chr13:32914356:C:G 10257_5864_1955_S->* 21 chr13:32914356:C:A 10257_5864_1955_S->* 21 chr13:32914401:C:A 10257_5909_1970_S->* 21 chr13:32914451:C:T 10257_5959_1987_Q->* 21 chr13:32914472:C:T 10257_5980_1994_Q->* 21 chr13:32914484:C:T 10257_5992_1998_Q->* 21 chr13:32914517:C:T 10257_6025_2009_Q->* 21 chr13:32914529:A:T 10257_6037_2013_K->* 21 chr13:32914550:G:T 10257_6058_2020_E->* 21 chr13:32914557:C:G 10257_6065_2022_S->* 21 chr13:32914574:G:T 10257_6082_2028_E->* 21 chr13:32914577:G:T 10257_6085_2029_E->* 21 chr13:32914616:C:T 10257_6124_2042_Q->* 21 chr13:32914629:C:A 10257_6137_2046_S->* 21 chr13:32914661:G:T 10257_6169_2057_G->* 21 chr13:32914731:T:G 10257_6239_2080_L->* 21 chr13:32914800:C:A 10257_6308_2103_S->* 21 chr13:32914851:C:G 10257_6359_2120_S->* 21 chr13:32914920:C:A 10257_6428_2143_S->* 21 chr13:32914961:C:T 10257_6469_2157_Q->* 21 chr13:32914982:C:T 10257_6490_2164_Q->* 21 chr13:32915033:G:T 10257_6541_2181_G->* 21 chr13:32915039:G:T 10257_6547_2183_E->* 21 chr13:32915049:C:A 10257_6557_2186_S->* 21 chr13:32915148:C:G 10257_6656_2219_S->* 21 chr13:32915207:G:T 10257_6715_2239_E->* 21 chr13:32915222:A:T 10257_6730_2244_K->* 21 chr13:32915292:C:A 10257_6800_2267_S->* 21 chr13:32920978:C:T 10257_6952_2318_R->* 21 chr13:32929014:C:T 10257_7024_2342_Q->* 21 chr13:32929050:C:T 10257_7060_2354_Q->* 21 chr13:32929105:C:G 10257_7115_2372_S->* 21 chr13:32929123:C:G 10257_7133_2378_S->* 21 chr13:32929170:A:T 10257_7180_2394_R->* 21 chr13:32929248:G:T 10257_7258_2420_E->* 21 chr13:32929251:C:T 10257_7261_2421_Q->* 21 chr13:32929256:T:A 10257_7266_2422_C->* 21 chr13:32929293:C:T 10257_7303_2435_Q->* 21 chr13:32929365:A:T 10257_7375_2459_K->* 21 chr13:32930582:C:T 10257_7453_2485_Q->* 21 chr13:32930591:A:T 10257_7462_2488_R->* 21 chr13:32930600:C:T 10257_7471_2491_Q->* 21 chr13:32930609:C:T 10257_7480_2494_R->* 21 chr13:32930624:C:T 10257_7495_2499_Q->* 21 chr13:32930630:C:T 10257_7501_2501_Q->* 21 chr13:32930687:C:T 10257_7558_2520_R->* 21 chr13:32930741:A:T 10257_7612_2538_K->* 21 chr13:32931999:C:T 10257_7738_2580_Q->* 21 chr13:32932018:G:A 10257_7757_2586_W->* 21 chr13:32932019:G:A 10257_7758_2586_W->* 21 chr13:32936710:G:A 10257_7856_2619_W->* 21 chr13:32936717:T:A 10257_7863_2621_Y->* 21 chr13:32936732:G:A 10257_7878_2626_W->* 21 chr13:32936762:T:A 10257_7908_2636_C->* 21 chr13:32936817:C:T 10257_7963_2655_Q->* 21 chr13:32937319:T:G 10257_7980_2660_Y->* 21 chr13:32937341:A:T 10257_8002_2668_R->* 21 chr13:32937348:C:A 10257_8009_2670_S->* 21 chr13:32937406:T:A 10257_8067_2689_C->* 21 chr13:32937423:C:G 10257_8084_2695_S->* 21 chr13:32937479:C:T 10257_8140_2714_Q->* 21 chr13:32937514:G:A 10257_8175_2725_W->* 21 chr13:32937530:C:T 10257_8191_2731_Q->* 21 chr13:32937534:T:G 10257_8195_2732_L->* 21 chr13:32937558:T:A 10257_8219_2740_L->* 21 chr13:32937653:G:T 10257_8314_2772_E->* 21 chr13:32937666:T:G 10257_8327_2776_L->* 21 chr13:32944570:G:A 10257_8363_2788_W->* 21 chr13:32944571:G:A 10257_8364_2788_W->* 21 chr13:32944658:T:A 10257_8451_2817_C->* 21 chr13:32944692:C:T 10257_8485_2829_Q->* 21 chr13:32945109:C:A 10257_8504_2835_S->* 21 chr13:32945122:C:A 10257_8517_2839_Y->* 21 chr13:32945177:C:T 10257_8572_2858_Q->* 21 chr13:32945180:C:T 10257_8575_2859_Q->* 21 chr13:32945225:G:T 10257_8620_2874_E->* 21 chr13:32950818:A:T 10257_8644_2882_K->* 21 chr13:32950851:C:T 10257_8677_2893_Q->* 21 chr13:32950854:C:T 10257_8680_2894_Q->* 21 chr13:32950869:C:T 10257_8695_2899_Q->* 21 chr13:32950881:G:T 10257_8707_2903_E->* 21 chr13:32953520:C:T 10257_8821_2941_Q->* 21 chr13:32953568:C:T 10257_8869_2957_Q->* 21 chr13:32953577:C:T 10257_8878_2960_Q->* 21 chr13:32953632:C:A 10257_8933_2978_S->* 21 chr13:32953650:C:G 10257_8951_2984_S->* 21 chr13:32953911:C:A 10257_8978_2993_S->* 21 chr13:32953924:T:G 10257_8991_2997_Y->* 21 chr13:32953940:G:T 10257_9007_3003_G->* 21 chr13:32953951:C:A 10257_9018_3006_Y->* 21 chr13:32954009:C:T 10257_9076_3026_Q->* 21 chr13:32954042:C:T 10257_9109_3037_Q->* 21 chr13:32954165:C:T 10257_9139_3047_Q->* 21 chr13:32954222:C:T 10257_9196_3066_Q->* 21 chr13:32954233:T:A 10257_9207_3069_C->* 21 chr13:32954273:A:T 10257_9247_3083_K->* 21 chr13:32954282:G:T 10257_9256_3086_G->* 21 chr13:32968845:T:G 10257_9276_3092_Y->* 21 chr13:32968855:G:T 10257_9286_3096_E->* 21 chr13:32968860:T:A 10257_9291_3097_C->* 21 chr13:32968863:C:A 10257_9294_3098_Y->* 21 chr13:32968863:C:G 10257_9294_3098_Y->* 21 chr13:32968886:G:A 10257_9317_3106_W->* 21 chr13:32968900:G:T 10257_9331_3111_E->* 21 chr13:32968945:C:T 10257_9376_3126_Q->* 21 chr13:32968949:G:A 10257_9380_3127_W->* 21 chr13:32968951:C:T 10257_9382_3128_R->* 21 chr13:32969035:C:T 10257_9466_3156_Q->* 21 chr13:32969050:A:T 10257_9481_3161_K->* 21 chr13:32971105:G:A 10257_9572_3191_W->* 21 chr13:32971132:C:G 10257_9599_3200_S->* 21 chr13:32972533:C:T 10257_9883_3295_Q->* 21 chr13:32972574:C:G 10257_9924_3308_Y->* 21 chr13:32972575:G:T 10257_9925_3309_E->* 21 chr13:32972626:A:T 10257_9976_3326_K->* 21 chr13:32972800:C:T 10257_10150_3384_R->* 21 chr13:32890599:T:G 10257_2_1_M->R 21 chr13:32890599:T:C 10257_2_1_M->T 21 chr13:32890599:T:A 10257_2_1_M->K 21 chr13:32890600:G:A 10257_3_1_M->I 21 chr13:32890650:G:A 10257_53_18_R->H 21 chr13:32890664:G:T 10257_67_23_D->Y 21 chr13:32893218:A:T 10257_72_24_L->F 21 chr13:32893219:G:A 10257_73_25_G->R 21 chr13:32893237:T:C 10257_91_31_W->R 21 chr13:32893239:G:T 10257_93_31_W->C 21 chr13:32893240:T:C 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21 chr13:32907413:T:C 10257_1798_600_Y->H 0.000998403 21 chr13:32910480:T:C 10257_1988_663_F->S 0.000199681 21 chr13:32910485:A:G 10257_1993_665_T->A 0.000199681 21 chr13:32910611:G:A 10257_2119_707_D->N 0.000199681 21 chr13:32910614:T:A 10257_2122_708_S->T 0.000199681 21 chr13:32910630:A:T 10257_2138_713_Q->L 0.00239617 21 chr13:32910648:A:G 10257_2156_719_N->S 0.000199681 21 chr13:32910678:T:C 10257_2186_729_I->T 0.000399361 21 chr13:32910725:A:G 10257_2233_745_K->E 0.000199681 21 chr13:32910842:A:G 10257_2350_784_M->V 0.00359425 21 chr13:32910980:A:G 10257_2488_830_N->D 0.000199681 21 chr13:32911081:T:A 10257_2589_863_N->K 0.000199681 21 chr13:32911100:A:G 10257_2608_870_I->V 0.000199681 21 chr13:32911187:A:G 10257_2695_899_N->D 0.000199681 21 chr13:32911278:T:C 10257_2786_929_L->S 0.00199681 21 chr13:32911295:G:A 10257_2803_935_D->N 0.000399361 21 chr13:32911330:T:G 10257_2838_946_D->E 0.000199681 21 chr13:32911341:T:A 10257_2849_950_V->D 0.000199681 21 chr13:32911412:G:A 10257_2920_974_D->N 0.000199681 21 chr13:32911418:T:A 10257_2926_976_S->T 0.00239617 21 chr13:32911419:C:T 10257_2927_976_S->F 0.00239617 21 chr13:32911438:A:G 10257_2946_982_I->M 0.000199681 21 chr13:32911452:A:T 10257_2960_987_N->I 0.00199681 21 chr13:32911463:A:G 10257_2971_991_N->D 0.0800719 21 chr13:32911547:C:G 10257_3055_1019_L->V 0.000199681 21 chr13:32911565:A:G 10257_3073_1025_K->E 0.000199681 21 chr13:32911572:G:A 10257_3080_1027_S->N 0.000199681 21 chr13:32911593:T:C 10257_3101_1034_I->T 0.000199681 21 chr13:32911677:C:T 10257_3185_1062_P->L 0.000199681 21 chr13:32911712:A:T 10257_3220_1074_S->C 0.000199681 21 chr13:32911743:G:A 10257_3251_1084_S->N 0.000199681 21 chr13:32911791:A:T 10257_3299_1100_N->I 0.000199681 21 chr13:32911822:A:C 10257_3330_1110_E->D 0.000199681 21 chr13:32911842:T:C 10257_3350_1117_I->T 0.000199681 21 chr13:32911857:G:A 10257_3365_1122_G->E 0.000199681 21 chr13:32911935:A:G 10257_3443_1148_Q->R 0.000199681 21 chr13:32911937:A:G 10257_3445_1149_M->V 0.000998403 21 chr13:32911971:G:A 10257_3479_1160_R->K 0.000199681 21 chr13:32912007:C:T 10257_3515_1172_S->L 0.000798722 21 chr13:32912121:A:T 10257_3629_1210_D->V 0.000199681 21 chr13:32912361:G:A 10257_3869_1290_C->Y 0.00339457 21 chr13:32912396:A:T 10257_3904_1302_T->S 0.000199681 21 chr13:32912534:T:A 10257_4042_1348_C->S 0.000199681 21 chr13:32912582:A:C 10257_4090_1364_I->L 0.00439297 21 chr13:32912655:C:A 10257_4163_1388_T->N 0.000199681 21 chr13:32912679:A:G 10257_4187_1396_Q->R 0.00199681 21 chr13:32912733:C:T 10257_4241_1414_T->M 0.00239617 21 chr13:32912744:A:G 10257_4252_1418_I->V 0.000199681 21 chr13:32912750:G:T 10257_4258_1420_D->Y 0.00399361 21 chr13:32912808:C:A 10257_4316_1439_A->D 0.000199681 21 chr13:32912846:C:G 10257_4354_1452_Q->E 0.000199681 21 chr13:32912868:A:G 10257_4376_1459_N->S 0.000199681 21 chr13:32913077:G:A 10257_4585_1529_G->R 0.000599042 21 chr13:32913162:C:G 10257_4670_1557_T->S 0.000199681 21 chr13:32913173:C:A 10257_4681_1561_H->N 0.00159744 21 chr13:32913177:A:C 10257_4685_1562_Q->P 0.000399361 21 chr13:32913271:A:C 10257_4779_1593_E->D 0.000998403 21 chr13:32913311:A:G 10257_4819_1607_I->V 0.000199681 21 chr13:32913444:C:T 10257_4952_1651_P->L 0.000199681 21 chr13:32913572:A:G 10257_5080_1694_R->G 0.000199681 21 chr13:32913587:G:A 10257_5095_1699_D->N 0.000599042 21 chr13:32913588:A:G 10257_5096_1699_D->G 0.000199681 21 chr13:32913596:C:T 10257_5104_1702_P->S 0.000199681 21 chr13:32913690:C:T 10257_5198_1733_S->F 0.00179712 21 chr13:32913804:G:A 10257_5312_1771_G->D 0.000199681 21 chr13:32913833:G:A 10257_5341_1781_D->N 0.000199681 21 chr13:32913906:A:G 10257_5414_1805_N->S 0.0 21 chr13:32913920:G:A 10257_5428_1810_V->I 0.000199681 21 chr13:32913987:C:G 10257_5495_1832_S->C 0.000199681 21 chr13:32914104:G:A 10257_5612_1871_S->N 0.000199681 21 chr13:32914127:G:A 10257_5635_1879_E->K 0.000199681 21 chr13:32914132:T:G 10257_5640_1880_N->K 0.00219649 21 chr13:32914175:G:A 10257_5683_1895_E->K 0.000199681 21 chr13:32914196:G:A 10257_5704_1902_D->N 0.0061901 21 chr13:32914200:T:C 10257_5708_1903_I->T 0.000199681 21 chr13:32914202:C:G 10257_5710_1904_L->V 0.000199681 21 chr13:32914236:C:T 10257_5744_1915_T->M 0.00858626 21 chr13:32914260:A:C 10257_5768_1923_D->A 0.000199681 21 chr13:32914277:A:G 10257_5785_1929_I->V 0.00139776 21 chr13:32914328:T:C 10257_5836_1946_S->P 0.000199681 21 chr13:32914461:A:C 10257_5969_1990_D->A 0.000199681 21 chr13:32914478:G:A 10257_5986_1996_A->T 0.00139776 21 chr13:32914592:C:T 10257_6100_2034_R->C 0.00139776 21 chr13:32914623:G:T 10257_6131_2044_G->V 0.000599042 21 chr13:32914649:T:C 10257_6157_2053_S->P 0.000199681 21 chr13:32914712:C:A 10257_6220_2074_H->N 0.00279553 21 chr13:32914723:G:C 10257_6231_2077_K->N 0.000199681 21 chr13:32914773:A:G 10257_6281_2094_Y->C 0.000199681 21 chr13:32914814:C:T 10257_6322_2108_R->C 0.00119808 21 chr13:32914815:G:A 10257_6323_2108_R->H 0.00379393 21 chr13:32914817:G:A 10257_6325_2109_V->I 0.000399361 21 chr13:32914839:A:G 10257_6347_2116_H->R 0.00678914 21 chr13:32914904:G:T 10257_6412_2138_V->F 0.00159744 21 chr13:32914933:C:G 10257_6441_2147_H->Q 0.000199681 21 chr13:32915130:C:T 10257_6638_2213_S->F 0.000199681 21 chr13:32915240:A:G 10257_6748_2250_T->A 0.000199681 21 chr13:32915258:T:C 10257_6766_2256_C->R 0.000199681 21 chr13:32915304:A:G 10257_6812_2271_K->R 0.000199681 21 chr13:32915307:G:A 10257_6815_2272_R->K 0.000199681 21 chr13:32915313:G:T 10257_6821_2274_G->V 0.000199681 21 chr13:32918739:A:C 10257_6886_2296_I->L 0.000399361 21 chr13:32918776:A:C 10257_6923_2308_K->T 0.000199681 21 chr13:32918788:A:T 10257_6935_2312_D->V 0.000199681 21 chr13:32920991:T:C 10257_6965_2322_M->T 0.000199681 21 chr13:32921009:A:C 10257_6983_2328_E->A 0.000199681 21 chr13:32929007:G:C 10257_7017_2339_K->N 0.00678914 21 chr13:32929042:C:G 10257_7052_2351_A->G 0.000798722 21 chr13:32929140:C:A 10257_7150_2384_Q->K 0.00139776 21 chr13:32929291:A:C 10257_7301_2434_K->T 0.000199681 21 chr13:32929309:A:G 10257_7319_2440_H->R 0.0103834 21 chr13:32929366:A:G 10257_7376_2459_K->R 0.000199681 21 chr13:32929380:C:G 10257_7390_2464_Q->E 0.000199681 21 chr13:32929387:T:C 10257_7397_2466_V->A 0.024161 21 chr13:32930567:T:G 10257_7438_2480_L->V 0.000399361 21 chr13:32930598:T:C 10257_7469_2490_I->T 0.0159744 21 chr13:32930633:C:T 10257_7504_2502_R->C 0.000399361 21 chr13:32930634:G:A 10257_7505_2502_R->H 0.000199681 21 chr13:32930676:C:T 10257_7547_2516_S->F 0.000199681 21 chr13:32930685:C:T 10257_7556_2519_P->L 0.000199681 21 chr13:32930730:C:T 10257_7601_2534_A->V 0.000599042 21 chr13:32931973:A:G 10257_7712_2571_E->G 0.000199681 21 chr13:32936719:A:G 10257_7865_2622_N->S 0.000199681 21 chr13:32936738:A:G 10257_7884_2628_I->M 0.000199681 21 chr13:32937333:A:G 10257_7994_2665_D->G 0.000199681 21 chr13:32937354:T:C 10257_8015_2672_I->T 0.000199681 21 chr13:32937399:T:C 10257_8060_2687_V->A 0.000199681 21 chr13:32937431:G:A 10257_8092_2698_A->T 0.0 21 chr13:32937443:G:C 10257_8104_2702_E->Q 0.000199681 21 chr13:32937456:A:G 10257_8117_2706_N->S 0.000798722 21 chr13:32937488:G:T 10257_8149_2717_A->S 0.000599042 21 chr13:32937521:G:A 10257_8182_2728_V->I 0.000599042 21 chr13:32937526:G:T 10257_8187_2729_K->N 0.00259585 21 chr13:32944570:G:T 10257_8363_2788_W->L 0.000199681 21 chr13:32945108:T:C 10257_8503_2835_S->P 0.00139776 21 chr13:32945130:G:A 10257_8525_2842_R->H 0.000199681 21 chr13:32945172:A:C 10257_8567_2856_E->A 0.000199681 21 chr13:32950860:C:T 10257_8686_2896_R->C 0.000199681 21 chr13:32950876:G:A 10257_8702_2901_G->D 0.000199681 21 chr13:32953529:A:T 10257_8830_2944_I->F 0.00898562 21 chr13:32953549:G:T 10257_8850_2950_K->N 0.00119808 21 chr13:32953550:G:A 10257_8851_2951_A->T 0.00998403 21 chr13:32953604:G:A 10257_8905_2969_V->M 0.000599042 21 chr13:32954039:C:G 10257_9106_3036_Q->E 0.000199681 21 chr13:32954261:G:A 10257_9235_3079_V->I 0.000599042 21 chr13:32968826:G:C 10257_9257_3086_G->A 0.000199681 21 chr13:32968861:T:C 10257_9292_3098_Y->H 0.000399361 21 chr13:32968922:T:C 10257_9353_3118_M->T 0.000199681 21 chr13:32968934:C:T 10257_9365_3122_A->V 0.000199681 21 chr13:32969015:G:C 10257_9446_3149_S->T 0.000199681 21 chr13:32971071:C:T 10257_9538_3180_L->F 0.000199681 21 chr13:32971119:A:G 10257_9586_3196_K->E 0.000199681 21 chr13:32971146:G:C 10257_9613_3205_A->P 0.000199681 21 chr13:32971147:C:T 10257_9614_3205_A->V 0.000199681 21 chr13:32971167:G:C 10257_9634_3212_G->R 0.00239617 21 chr13:32972327:A:G 10257_9677_3226_Y->C 0.000399361 21 chr13:32972340:A:T 10257_9690_3230_L->F 0.000199681 21 chr13:32972380:G:A 10257_9730_3244_V->I 0.00678914 21 chr13:32972522:C:G 10257_9872_3291_S->C 0.000199681 21 chr13:32972525:C:T 10257_9875_3292_P->L 0.000199681 21 chr13:32972549:C:A 10257_9899_3300_P->Q 0.000199681 21 chr13:32972647:C:G 10257_9997_3333_L->V 0.000199681 21 chr13:32972673:C:A 10257_10023_3341_D->E 0.000199681 21 chr13:32972683:G:A 10257_10033_3345_A->T 0.000199681 21 chr13:32972771:C:T 10257_10121_3374_T->I 0.000998403 21 chr13:32972852:C:T 10257_10202_3401_T->M 0.000199681 21 chr13:32972884:A:G 10257_10234_3412_I->V 0.0449281 21 chr13:32972899:T:C 10257_10249_3417_Y->H 0.000199681 21 na12878 Variants: 21 chr13:32929387:T:C 10257_7397_2466_V->A 21 snyder Variants: 21 chr13:32929387:T:C 10257_7397_2466_V->A 22 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000067369_ENST00000263801 gene_Name: TP53B_HUMAN 22 list of pdbs: 22 3LH0 pdb_description: 23-Mar-10 X-ray 1.900 Crystal structure of the 53bp1 tandem tudor domain in comple p53k372me2 22 3LGL pdb_description: 23-Mar-10 X-ray 1.600 Crystal structure of the 53bp1 tandem tudor domain in comple p53k382me2 22 3LGF pdb_description: 23-Mar-10 X-ray 1.500 Crystal structure of the 53bp1 tandem tudor domain in comple p53k370me2 22 2IG0 pdb_description: 02-Jan-07 X-ray 1.700 Structure of 53bp1/methylated histone peptide complex 22 2G3R pdb_description: 02-Jan-07 X-ray 1.250 Crystal structure of 53bp1 tandem tudor domains at 1.2 a res 22 1XNI pdb_description: 30-Nov-04 X-ray 2.800 Tandem tudor domain of 53bp1 22 1KZY pdb_description: 20-Mar-02 X-ray 2.500 Crystal structure of the 53bp1 brct region complexed to tumor suppressor p53 22 1GZH pdb_description: 27-Jun-02 X-ray 2.600 Crystal structure of the brct domains of human 53bp1 bound to the p53 tumor supressor 22 2LVM pdb_description: 12-Dec-12 NMR 20 Solution structure of human 53bp1 tandem tudor domains in co a histone h4k20me2 peptide 22 Zimmer Variants: 22 chr15:43724646:T:G 5919_3406_1136_K->Q;HUB=PPI;GNEG=Yes;GENE=TP53BP1;CANG=[DNA_repair];CDSS=4 22 chr15:43733730:A:G 5919_3077_1026_V->A;HUB=PPI;GNEG=Yes;GENE=TP53BP1;CANG=[DNA_repair];CDSS=4 22 chr15:43762196:C:T 5919_1234_412_G->S;HUB=PPI;GNEG=Yes;GENE=TP53BP1;CANG=[DNA_repair];CDSS=4 22 chr15:43767774:G:C 5919_1059_353_D->E;HUB=PPI;GNEG=Yes;GENE=TP53BP1;CANG=[DNA_repair];CDSS=3 22 HGMD Variants: 22 chr15:43724646:T:G 5919_3406_1136_K->Q 22 chr15:43762196:C:T 5919_1234_412_G->S 22 chr15:43767774:G:C 5919_1059_353_D->E 22 oneKG Variants: 22 chr15:43700144:T:C 5919_5728_1910_K->E 0.000199681 22 chr15:43700191:G:C 5919_5681_1894_T->S 0.000199681 22 chr15:43701150:G:A 5919_5530_1844_R->C 0.000199681 22 chr15:43705467:C:A 5919_5140_1714_A->S 0.00319489 22 chr15:43712796:C:T 5919_4373_1458_R->H 0.000199681 22 chr15:43712823:C:T 5919_4346_1449_R->Q 0.000399361 22 chr15:43712914:G:C 5919_4255_1419_P->A 0.000399361 22 chr15:43713277:G:A 5919_4181_1394_T->M 0.000399361 22 chr15:43713305:T:G 5919_4153_1385_I->L 0.000399361 22 chr15:43713327:C:A 5919_4131_1377_E->D 0.000199681 22 chr15:43714074:C:T 5919_4064_1355_R->Q 0.000199681 22 chr15:43714111:C:T 5919_4027_1343_G->R 0.000199681 22 chr15:43714134:C:A 5919_4004_1335_G->V 0.000199681 22 chr15:43714135:C:T 5919_4003_1335_G->R 0.000399361 22 chr15:43714198:G:A 5919_3940_1314_R->C 0.000399361 22 chr15:43714202:T:A 5919_3936_1312_L->F 0.000199681 22 chr15:43720345:G:C 5919_3682_1228_P->A 0.000199681 22 chr15:43724532:T:C 5919_3520_1174_I->V 0.00938498 22 chr15:43724543:G:C 5919_3509_1170_A->G 0.000199681 22 chr15:43724550:A:C 5919_3502_1168_S->A 0.000199681 22 chr15:43724643:C:T 5919_3409_1137_E->K 0.000199681 22 chr15:43724646:T:G 5919_3406_1136_K->Q 0.473642 22 chr15:43724694:T:C 5919_3358_1120_M->V 0.000199681 22 chr15:43724760:C:A 5919_3292_1098_D->Y 0.000199681 22 chr15:43724823:A:T 5919_3229_1077_L->M 0.000798722 22 chr15:43724870:T:C 5919_3182_1061_N->S 0.000399361 22 chr15:43730537:G:A 5919_3161_1054_P->L 0.000199681 22 chr15:43730552:C:T 5919_3146_1049_R->Q 0.000199681 22 chr15:43730601:T:A 5919_3097_1033_M->L 0.000199681 22 chr15:43733727:G:A 5919_3080_1027_A->V 0.000399361 22 chr15:43733728:C:A 5919_3079_1027_A->S 0.000399361 22 chr15:43733730:A:G 5919_3077_1026_V->A 0.00559105 22 chr15:43733766:T:C 5919_3041_1014_E->G 0.000199681 22 chr15:43738614:C:G 5919_2996_999_S->T 0.000199681 22 chr15:43738670:G:T 5919_2940_980_D->E 0.000599042 22 chr15:43738753:T:G 5919_2857_953_S->R 0.000199681 22 chr15:43739605:C:T 5919_2780_927_G->E 0.000399361 22 chr15:43739647:T:C 5919_2738_913_D->G 0.000399361 22 chr15:43748269:T:C 5919_2522_841_D->G 0.00199681 22 chr15:43748363:C:T 5919_2428_810_V->I 0.000199681 22 chr15:43748399:C:A 5919_2392_798_A->S 0.000399361 22 chr15:43748534:C:T 5919_2257_753_D->N 0.000199681 22 chr15:43748605:T:G 5919_2186_729_Q->P 0.000399361 22 chr15:43748647:G:A 5919_2144_715_A->V 0.000399361 22 chr15:43748695:T:C 5919_2096_699_Q->R 0.0111821 22 chr15:43748737:T:C 5919_2054_685_E->G 0.000599042 22 chr15:43748849:T:C 5919_1942_648_M->V 0.000199681 22 chr15:43748962:G:A 5919_1829_610_T->M 0.000199681 22 chr15:43748963:T:C 5919_1828_610_T->A 0.000199681 22 chr15:43749051:A:C 5919_1740_580_S->R 0.000199681 22 chr15:43749149:T:C 5919_1642_548_T->A 0.00778754 22 chr15:43749236:T:C 5919_1555_519_T->A 0.00159744 22 chr15:43749331:A:G 5919_1460_487_V->A 0.000399361 22 chr15:43749332:C:T 5919_1459_487_V->I 0.000199681 22 chr15:43749353:T:C 5919_1438_480_M->V 0.000199681 22 chr15:43749356:C:G 5919_1435_479_D->H 0.000798722 22 chr15:43749361:T:C 5919_1430_477_D->G 0.000199681 22 chr15:43762196:C:T 5919_1234_412_G->S 0.382388 22 chr15:43766924:C:G 5919_1112_371_R->P 0.000199681 22 chr15:43767763:G:A 5919_1070_357_T->M 0.00159744 22 chr15:43767774:G:C 5919_1059_353_D->E 0.474241 22 chr15:43767874:G:C 5919_959_320_S->C 0.00159744 22 chr15:43769823:T:C 5919_908_303_Q->R 0.000199681 22 chr15:43769851:A:G 5919_880_294_S->P 0.00319489 22 chr15:43769914:T:C 5919_817_273_M->V 0.000199681 22 chr15:43771608:G:C 5919_760_254_P->A 0.000199681 22 chr15:43771694:T:G 5919_674_225_D->A 0.000199681 22 chr15:43772071:A:G 5919_629_210_V->A 0.000199681 22 chr15:43772082:C:G 5919_618_206_R->S 0.000199681 22 chr15:43773117:T:C 5919_460_154_T->A 0.000199681 22 chr15:43784216:T:A 5919_255_85_K->N 0.000199681 22 chr15:43784556:C:G 5919_103_35_D->H 0.000199681 22 chr15:43784559:C:T 5919_100_34_D->N 0.000399361 22 na12878 Variants: 22 chr15:43724646:T:G 5919_3406_1136_K->Q 22 chr15:43762196:C:T 5919_1234_412_G->S 22 chr15:43767774:G:C 5919_1059_353_D->E 22 snyder Variants: 22 chr15:43724646:T:G 5919_3406_1136_K->Q 22 chr15:43762196:C:T 5919_1234_412_G->S 22 chr15:43767774:G:C 5919_1059_353_D->E 23 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000067369_ENST00000382044 gene_Name: TP53B_HUMAN 23 list of pdbs: 23 3LH0 pdb_description: 23-Mar-10 X-ray 1.900 Crystal structure of the 53bp1 tandem tudor domain in comple p53k372me2 23 3LGL pdb_description: 23-Mar-10 X-ray 1.600 Crystal structure of the 53bp1 tandem tudor domain in comple p53k382me2 23 3LGF pdb_description: 23-Mar-10 X-ray 1.500 Crystal structure of the 53bp1 tandem tudor domain in comple p53k370me2 23 2IG0 pdb_description: 02-Jan-07 X-ray 1.700 Structure of 53bp1/methylated histone peptide complex 23 2G3R pdb_description: 02-Jan-07 X-ray 1.250 Crystal structure of 53bp1 tandem tudor domains at 1.2 a res 23 1XNI pdb_description: 30-Nov-04 X-ray 2.800 Tandem tudor domain of 53bp1 23 1KZY pdb_description: 20-Mar-02 X-ray 2.500 Crystal structure of the 53bp1 brct region complexed to tumor suppressor p53 23 1GZH pdb_description: 27-Jun-02 X-ray 2.600 Crystal structure of the brct domains of human 53bp1 bound to the p53 tumor supressor 23 2LVM pdb_description: 12-Dec-12 NMR 20 Solution structure of human 53bp1 tandem tudor domains in co a histone h4k20me2 peptide 23 Zimmer Variants: 23 chr15:43724646:T:G 5934_3421_1141_K->Q 23 chr15:43733730:A:G 5934_3092_1031_V->A 23 chr15:43762196:C:T 5934_1249_417_G->S 23 chr15:43767774:G:C 5934_1074_358_D->E 23 HGMD Variants: 23 chr15:43724646:T:G 5934_3421_1141_K->Q 23 chr15:43762196:C:T 5934_1249_417_G->S 23 chr15:43767774:G:C 5934_1074_358_D->E 23 oneKG Variants: 23 chr15:43700144:T:C 5934_5743_1915_K->E 0.000199681 23 chr15:43700191:G:C 5934_5696_1899_T->S 0.000199681 23 chr15:43701150:G:A 5934_5545_1849_R->C 0.000199681 23 chr15:43705467:C:A 5934_5155_1719_A->S 0.00319489 23 chr15:43712796:C:T 5934_4388_1463_R->H 0.000199681 23 chr15:43712823:C:T 5934_4361_1454_R->Q 0.000399361 23 chr15:43712914:G:C 5934_4270_1424_P->A 0.000399361 23 chr15:43713277:G:A 5934_4196_1399_T->M 0.000399361 23 chr15:43713305:T:G 5934_4168_1390_I->L 0.000399361 23 chr15:43713327:C:A 5934_4146_1382_E->D 0.000199681 23 chr15:43714074:C:T 5934_4079_1360_R->Q 0.000199681 23 chr15:43714111:C:T 5934_4042_1348_G->R 0.000199681 23 chr15:43714134:C:A 5934_4019_1340_G->V 0.000199681 23 chr15:43714135:C:T 5934_4018_1340_G->R 0.000399361 23 chr15:43714198:G:A 5934_3955_1319_R->C 0.000399361 23 chr15:43714202:T:A 5934_3951_1317_L->F 0.000199681 23 chr15:43720345:G:C 5934_3697_1233_P->A 0.000199681 23 chr15:43724532:T:C 5934_3535_1179_I->V 0.00938498 23 chr15:43724543:G:C 5934_3524_1175_A->G 0.000199681 23 chr15:43724550:A:C 5934_3517_1173_S->A 0.000199681 23 chr15:43724643:C:T 5934_3424_1142_E->K 0.000199681 23 chr15:43724646:T:G 5934_3421_1141_K->Q 0.473642 23 chr15:43724694:T:C 5934_3373_1125_M->V 0.000199681 23 chr15:43724760:C:A 5934_3307_1103_D->Y 0.000199681 23 chr15:43724823:A:T 5934_3244_1082_L->M 0.000798722 23 chr15:43724870:T:C 5934_3197_1066_N->S 0.000399361 23 chr15:43730537:G:A 5934_3176_1059_P->L 0.000199681 23 chr15:43730552:C:T 5934_3161_1054_R->Q 0.000199681 23 chr15:43730601:T:A 5934_3112_1038_M->L 0.000199681 23 chr15:43733727:G:A 5934_3095_1032_A->V 0.000399361 23 chr15:43733728:C:A 5934_3094_1032_A->S 0.000399361 23 chr15:43733730:A:G 5934_3092_1031_V->A 0.00559105 23 chr15:43733766:T:C 5934_3056_1019_E->G 0.000199681 23 chr15:43738614:C:G 5934_3011_1004_S->T 0.000199681 23 chr15:43738670:G:T 5934_2955_985_D->E 0.000599042 23 chr15:43738753:T:G 5934_2872_958_S->R 0.000199681 23 chr15:43739605:C:T 5934_2795_932_G->E 0.000399361 23 chr15:43739647:T:C 5934_2753_918_D->G 0.000399361 23 chr15:43748269:T:C 5934_2537_846_D->G 0.00199681 23 chr15:43748363:C:T 5934_2443_815_V->I 0.000199681 23 chr15:43748399:C:A 5934_2407_803_A->S 0.000399361 23 chr15:43748534:C:T 5934_2272_758_D->N 0.000199681 23 chr15:43748605:T:G 5934_2201_734_Q->P 0.000399361 23 chr15:43748647:G:A 5934_2159_720_A->V 0.000399361 23 chr15:43748695:T:C 5934_2111_704_Q->R 0.0111821 23 chr15:43748737:T:C 5934_2069_690_E->G 0.000599042 23 chr15:43748849:T:C 5934_1957_653_M->V 0.000199681 23 chr15:43748962:G:A 5934_1844_615_T->M 0.000199681 23 chr15:43748963:T:C 5934_1843_615_T->A 0.000199681 23 chr15:43749051:A:C 5934_1755_585_S->R 0.000199681 23 chr15:43749149:T:C 5934_1657_553_T->A 0.00778754 23 chr15:43749236:T:C 5934_1570_524_T->A 0.00159744 23 chr15:43749331:A:G 5934_1475_492_V->A 0.000399361 23 chr15:43749332:C:T 5934_1474_492_V->I 0.000199681 23 chr15:43749353:T:C 5934_1453_485_M->V 0.000199681 23 chr15:43749356:C:G 5934_1450_484_D->H 0.000798722 23 chr15:43749361:T:C 5934_1445_482_D->G 0.000199681 23 chr15:43762196:C:T 5934_1249_417_G->S 0.382388 23 chr15:43766924:C:G 5934_1127_376_R->P 0.000199681 23 chr15:43767763:G:A 5934_1085_362_T->M 0.00159744 23 chr15:43767774:G:C 5934_1074_358_D->E 0.474241 23 chr15:43767874:G:C 5934_974_325_S->C 0.00159744 23 chr15:43769823:T:C 5934_923_308_Q->R 0.000199681 23 chr15:43769851:A:G 5934_895_299_S->P 0.00319489 23 chr15:43769914:T:C 5934_832_278_M->V 0.000199681 23 chr15:43771608:G:C 5934_775_259_P->A 0.000199681 23 chr15:43771694:T:G 5934_689_230_D->A 0.000199681 23 chr15:43772071:A:G 5934_644_215_V->A 0.000199681 23 chr15:43772082:C:G 5934_633_211_R->S 0.000199681 23 chr15:43773117:T:C 5934_475_159_T->A 0.000199681 23 chr15:43784216:T:A 5934_270_90_K->N 0.000199681 23 chr15:43784556:C:G 5934_118_40_D->H 0.000199681 23 chr15:43784559:C:T 5934_115_39_D->N 0.000399361 23 chr15:43785238:G:A 5934_4_2_P->S 0.000199681 23 na12878 Variants: 23 chr15:43724646:T:G 5934_3421_1141_K->Q 23 chr15:43762196:C:T 5934_1249_417_G->S 23 chr15:43767774:G:C 5934_1074_358_D->E 23 snyder Variants: 23 chr15:43724646:T:G 5934_3421_1141_K->Q 23 chr15:43762196:C:T 5934_1249_417_G->S 23 chr15:43767774:G:C 5934_1074_358_D->E 24 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000170776_ENST00000394518 gene_Name: AKP13_HUMAN 24 list of pdbs: 24 2LG1 pdb_description: 03-Aug-11 NMR 20 Solution structure of the human akap13 ph domain and stabili helix 24 2DRN pdb_description: 29-Aug-06 NMR 13 Docking and dimerization domain (d/d) of the type ii-alpha regulatory subunity of protein kinase a (pka) in complex with a peptide from an a-kinase anchoring protein 24 Zimmer Variants: 24 chr15:86122779:T:C 8442_1480_494_W->R;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=4;DBRECUR=AKAP13 24 chr15:86124616:A:G 8442_3317_1106_E->G;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=4;DBRECUR=AKAP13 24 chr15:86122654:T:C 8442_1355_452_M->T;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=3;DBRECUR=AKAP13 24 chr15:86123019:C:T 8442_1720_574_R->C;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=3;DBRECUR=AKAP13 24 chr15:86124483:C:G 8442_3184_1062_P->A;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=3;DBRECUR=AKAP13 24 chr15:86124555:G:A 8442_3256_1086_D->N;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=3;DBRECUR=AKAP13 24 chr15:86124946:T:C 8442_3647_1216_M->T;HUB=PPI;GNEG=Yes;GENE=AKAP13;CDSS=3;DBRECUR=AKAP13 24 chr15:86287867:G:A 8442_8401_2801_A->T 24 HGMD Variants: 24 chr15:86122875:A:C 8442_1576_526_K->Q 24 chr15:86123268:G:A 8442_1969_657_G->R 24 oneKG Variants: 24 chr15:86064750:G:A 8442_125_42_R->H 0.000399361 24 chr15:86076854:C:G 8442_221_74_A->G 0.000199681 24 chr15:86076886:G:T 8442_253_85_A->S 0.00199681 24 chr15:86076907:G:A 8442_274_92_V->I 0.000199681 24 chr15:86076913:G:C 8442_280_94_D->H 0.000199681 24 chr15:86077073:C:T 8442_440_147_T->M 0.000199681 24 chr15:86077097:A:G 8442_464_155_D->G 0.00239617 24 chr15:86077099:C:G 8442_466_156_Q->E 0.000199681 24 chr15:86087026:A:G 8442_502_168_M->V 0.000199681 24 chr15:86087092:C:T 8442_568_190_R->C 0.00179712 24 chr15:86087095:G:A 8442_571_191_G->R 0.00599042 24 chr15:86087099:C:T 8442_575_192_A->V 0.00139776 24 chr15:86087165:A:G 8442_641_214_K->R 0.000199681 24 chr15:86118372:G:C 8442_673_225_G->R 0.000399361 24 chr15:86118412:C:T 8442_713_238_P->L 0.000199681 24 chr15:86118415:A:C 8442_716_239_Y->S 0.000199681 24 chr15:86118445:A:T 8442_746_249_E->V 0.000199681 24 chr15:86118525:A:G 8442_826_276_I->V 0.000399361 24 chr15:86118538:T:C 8442_839_280_M->T 0.000199681 24 chr15:86118552:C:G 8442_853_285_Q->E 0.000199681 24 chr15:86122285:G:A 8442_986_329_R->Q 0.000399361 24 chr15:86122291:C:T 8442_992_331_S->F 0.00259585 24 chr15:86122299:G:A 8442_1000_334_E->K 0.0061901 24 chr15:86122314:A:T 8442_1015_339_T->S 0.00239617 24 chr15:86122330:G:A 8442_1031_344_G->E 0.000399361 24 chr15:86122393:C:T 8442_1094_365_T->I 0.000199681 24 chr15:86122398:C:G 8442_1099_367_R->G 0.00159744 24 chr15:86122425:G:A 8442_1126_376_V->M 0.00259585 24 chr15:86122438:G:C 8442_1139_380_G->A 0.00119808 24 chr15:86122483:C:G 8442_1184_395_S->C 0.00139776 24 chr15:86122534:C:T 8442_1235_412_T->M 0.000199681 24 chr15:86122552:G:C 8442_1253_418_C->S 0.000199681 24 chr15:86122557:A:G 8442_1258_420_N->D 0.000199681 24 chr15:86122591:G:T 8442_1292_431_G->V 0.000199681 24 chr15:86122604:C:A 8442_1305_435_D->E 0.000199681 24 chr15:86122617:A:C 8442_1318_440_S->R 0.000399361 24 chr15:86122654:T:C 8442_1355_452_M->T 0.416933 24 chr15:86122668:G:A 8442_1369_457_A->T 0.000199681 24 chr15:86122731:A:G 8442_1432_478_T->A 0.000399361 24 chr15:86122753:G:A 8442_1454_485_G->E 0.000199681 24 chr15:86122760:G:A 8442_1461_487_M->I 0.000798722 24 chr15:86122765:C:T 8442_1466_489_P->L 0.00219649 24 chr15:86122767:G:A 8442_1468_490_D->N 0.000199681 24 chr15:86122779:T:C 8442_1480_494_W->R 0.403754 24 chr15:86122873:G:A 8442_1574_525_S->N 0.000199681 24 chr15:86122875:A:C 8442_1576_526_K->Q 0.0131789 24 chr15:86122879:C:G 8442_1580_527_P->R 0.00179712 24 chr15:86122909:C:T 8442_1610_537_A->V 0.000798722 24 chr15:86122938:A:C 8442_1639_547_K->Q 0.000199681 24 chr15:86122960:C:G 8442_1661_554_A->G 0.000399361 24 chr15:86122966:G:A 8442_1667_556_S->N 0.000998403 24 chr15:86122978:C:T 8442_1679_560_T->I 0.000199681 24 chr15:86123002:C:T 8442_1703_568_T->M 0.000199681 24 chr15:86123019:C:T 8442_1720_574_R->C 0.416933 24 chr15:86123049:C:A 8442_1750_584_Q->K 0.000399361 24 chr15:86123077:C:G 8442_1778_593_A->G 0.00239617 24 chr15:86123085:A:G 8442_1786_596_K->E 0.0203674 24 chr15:86123107:C:G 8442_1808_603_P->R 0.000399361 24 chr15:86123170:G:T 8442_1871_624_G->V 0.134585 24 chr15:86123190:C:T 8442_1891_631_P->S 0.000199681 24 chr15:86123250:C:T 8442_1951_651_P->S 0.000199681 24 chr15:86123364:G:A 8442_2065_689_E->K 0.0760783 24 chr15:86123392:C:G 8442_2093_698_P->R 0.000199681 24 chr15:86123436:C:A 8442_2137_713_Q->K 0.000199681 24 chr15:86123457:G:T 8442_2158_720_D->Y 0.00279553 24 chr15:86123489:T:A 8442_2190_730_D->E 0.000599042 24 chr15:86123654:C:G 8442_2355_785_F->L 0.000798722 24 chr15:86123716:C:G 8442_2417_806_P->R 0.000199681 24 chr15:86123770:A:T 8442_2471_824_Y->F 0.00179712 24 chr15:86123786:T:A 8442_2487_829_D->E 0.000199681 24 chr15:86123809:C:T 8442_2510_837_T->M 0.00199681 24 chr15:86123812:G:A 8442_2513_838_R->Q 0.000199681 24 chr15:86123833:T:C,G 8442_2534_845_V->A,2 0.417931 24 chr15:86123833:T:C,G 8442_2534_845_V->G 0.417931 24 chr15:86123851:C:T 8442_2552_851_S->F 0.00519169 24 chr15:86123859:G:A 8442_2560_854_A->T 0.000199681 24 chr15:86123914:A:G 8442_2615_872_H->R 0.000199681 24 chr15:86123932:C:T 8442_2633_878_P->L 0.000599042 24 chr15:86123955:A:G 8442_2656_886_I->V 0.000599042 24 chr15:86123988:G:A 8442_2689_897_V->M 0.417931 24 chr15:86123997:G:A 8442_2698_900_A->T 0.000199681 24 chr15:86124061:C:G 8442_2762_921_S->C 0.00678914 24 chr15:86124091:C:T 8442_2792_931_A->V 0.000199681 24 chr15:86124129:T:C 8442_2830_944_S->P 0.00119808 24 chr15:86124150:C:G 8442_2851_951_Q->E 0.00239617 24 chr15:86124303:G:A 8442_3004_1002_A->T 0.000798722 24 chr15:86124312:G:A 8442_3013_1005_V->I 0.000199681 24 chr15:86124339:G:T 8442_3040_1014_A->S 0.000199681 24 chr15:86124357:C:T 8442_3058_1020_P->S 0.000199681 24 chr15:86124483:C:G 8442_3184_1062_P->A 0.418131 24 chr15:86124499:T:G 8442_3200_1067_V->G 0.000399361 24 chr15:86124555:G:A 8442_3256_1086_D->N 0.41873 24 chr15:86124611:A:T 8442_3312_1104_R->S 0.000199681 24 chr15:86124616:A:G 8442_3317_1106_E->G 0.0690895 24 chr15:86124651:C:T 8442_3352_1118_P->S 0.000199681 24 chr15:86124712:A:G 8442_3413_1138_D->G 0.0155751 24 chr15:86124718:C:T 8442_3419_1140_A->V 0.000199681 24 chr15:86124774:A:G 8442_3475_1159_K->E 0.000199681 24 chr15:86124781:A:G 8442_3482_1161_K->R 0.000199681 24 chr15:86124819:G:A 8442_3520_1174_A->T 0.000199681 24 chr15:86124917:T:A 8442_3618_1206_D->E 0.000199681 24 chr15:86124925:C:T 8442_3626_1209_P->L 0.000798722 24 chr15:86124933:G:A 8442_3634_1212_V->M 0.000199681 24 chr15:86124946:T:C 8442_3647_1216_M->T 0.417332 24 chr15:86124996:A:G 8442_3697_1233_M->V 0.000399361 24 chr15:86125080:G:A 8442_3781_1261_E->K 0.000399361 24 chr15:86125081:A:T 8442_3782_1261_E->V 0.000798722 24 chr15:86125089:A:G 8442_3790_1264_K->E 0.000199681 24 chr15:86125098:G:C 8442_3799_1267_G->R 0.000798722 24 chr15:86125126:G:A 8442_3827_1276_C->Y 0.000199681 24 chr15:86125128:C:T 8442_3829_1277_H->Y 0.000199681 24 chr15:86125236:A:G 8442_3937_1313_S->G 0.000399361 24 chr15:86182635:C:T 8442_4192_1398_P->S 0.000399361 24 chr15:86182662:G:A 8442_4219_1407_A->T 0.000399361 24 chr15:86189180:C:G 8442_4369_1457_P->A 0.000199681 24 chr15:86198706:C:T 8442_4433_1478_T->M 0.000199681 24 chr15:86198727:C:T 8442_4454_1485_S->F 0.000199681 24 chr15:86198738:A:G 8442_4465_1489_S->G 0.000199681 24 chr15:86198745:T:C 8442_4472_1491_V->A 0.000199681 24 chr15:86198772:A:G 8442_4499_1500_N->S 0.000199681 24 chr15:86198787:G:A 8442_4514_1505_R->Q 0.000199681 24 chr15:86198808:A:G 8442_4535_1512_Y->C 0.000199681 24 chr15:86198846:A:G 8442_4573_1525_S->G 0.0199681 24 chr15:86198893:T:G 8442_4620_1540_S->R 0.000399361 24 chr15:86198964:A:G 8442_4691_1564_H->R 0.000199681 24 chr15:86199007:G:T 8442_4734_1578_M->I 0.000199681 24 chr15:86199018:G:A 8442_4745_1582_S->N 0.000199681 24 chr15:86201772:A:T 8442_4750_1584_M->L 0.000199681 24 chr15:86201776:G:A 8442_4754_1585_R->Q 0.000399361 24 chr15:86207857:A:T 8442_4863_1621_E->D 0.000998403 24 chr15:86207925:T:C 8442_4931_1644_V->A 0.0091853 24 chr15:86213005:C:T 8442_5045_1682_S->F 0.000199681 24 chr15:86228004:A:G 8442_5189_1730_H->R 0.000199681 24 chr15:86236589:G:A 8442_5371_1791_G->R 0.000199681 24 chr15:86236613:G:A 8442_5395_1799_V->I 0.000199681 24 chr15:86236629:G:C 8442_5411_1804_S->T 0.000199681 24 chr15:86253813:C:T 8442_5536_1846_P->S 0.000199681 24 chr15:86253835:A:G 8442_5558_1853_H->R 0.000199681 24 chr15:86259072:G:A 8442_5653_1885_A->T 0.000798722 24 chr15:86259093:A:T 8442_5674_1892_N->Y 0.000199681 24 chr15:86259124:C:G 8442_5705_1902_S->C 0.000199681 24 chr15:86261322:G:A 8442_5933_1978_R->Q 0.000998403 24 chr15:86265328:G:A 8442_6359_2120_R->H 0.000199681 24 chr15:86265509:A:C 8442_6427_2143_I->L 0.00379393 24 chr15:86265560:A:C 8442_6478_2160_I->L 0.000199681 24 chr15:86266306:A:G 8442_6500_2167_N->S 0.000399361 24 chr15:86266342:G:A 8442_6536_2179_S->N 0.000199681 24 chr15:86266375:G:A 8442_6569_2190_S->N 0.000199681 24 chr15:86266405:G:A 8442_6599_2200_R->H 0.000199681 24 chr15:86266411:A:G 8442_6605_2202_N->S 0.000199681 24 chr15:86266420:A:T 8442_6614_2205_Y->F 0.000199681 24 chr15:86270345:G:A 8442_6871_2291_V->M 0.000199681 24 chr15:86270452:G:T 8442_6978_2326_Q->H 0.000199681 24 chr15:86273745:A:C 8442_7089_2363_E->D 0.00159744 24 chr15:86273754:C:A 8442_7098_2366_H->Q 0.0121805 24 chr15:86273756:A:G 8442_7100_2367_Q->R 0.000199681 24 chr15:86273831:C:G 8442_7175_2392_P->R 0.0141773 24 chr15:86273878:C:T 8442_7222_2408_R->C 0.000399361 24 chr15:86273886:C:A 8442_7230_2410_N->K 0.00119808 24 chr15:86278286:G:A 8442_7346_2449_S->N 0.000399361 24 chr15:86278309:G:A 8442_7369_2457_G->S 0.136581 24 chr15:86278319:C:T 8442_7379_2460_S->F 0.000199681 24 chr15:86278360:C:T 8442_7420_2474_H->Y 0.000199681 24 chr15:86278811:G:A 8442_7462_2488_D->N 0.000199681 24 chr15:86279346:T:C 8442_7538_2513_M->T 0.000199681 24 chr15:86283483:G:A 8442_7588_2530_E->K 0.000798722 24 chr15:86284277:G:T 8442_7609_2537_G->C 0.00139776 24 chr15:86284331:G:C 8442_7663_2555_E->Q 0.000199681 24 chr15:86284334:A:G 8442_7666_2556_R->G 0.000199681 24 chr15:86284335:G:A 8442_7667_2556_R->K 0.000599042 24 chr15:86284374:T:C 8442_7706_2569_I->T 0.000199681 24 chr15:86284472:G:A 8442_7804_2602_E->K 0.00119808 24 chr15:86284478:G:C 8442_7810_2604_E->Q 0.000199681 24 chr15:86284495:G:C 8442_7827_2609_E->D 0.000599042 24 chr15:86284512:G:A 8442_7844_2615_R->Q 0.00159744 24 chr15:86284532:C:T 8442_7864_2622_R->C 0.000199681 24 chr15:86284561:G:C 8442_7893_2631_Q->H 0.000199681 24 chr15:86284700:C:T 8442_8032_2678_R->W 0.00738818 24 chr15:86284707:C:T 8442_8039_2680_T->I 0.000199681 24 chr15:86286760:C:T 8442_8096_2699_S->L 0.000199681 24 chr15:86286787:C:T 8442_8123_2708_P->L 0.0555112 24 chr15:86286805:C:T 8442_8141_2714_S->F 0.000199681 24 chr15:86286870:C:T 8442_8206_2736_R->W 0.000199681 24 chr15:86286942:C:G 8442_8278_2760_Q->E 0.00179712 24 chr15:86287028:G:C 8442_8364_2788_K->N 0.00139776 24 chr15:86287031:C:A 8442_8367_2789_N->K 0.0670927 24 chr15:86287036:C:T 8442_8372_2791_T->I 0.000199681 24 chr15:86287865:C:A 8442_8399_2800_P->H 0.000399361 24 chr15:86287867:G:A 8442_8401_2801_A->T 0.188498 24 chr15:86287868:C:T 8442_8402_2801_A->V 0.000199681 24 chr15:86287889:G:A 8442_8423_2808_G->D 0.000199681 24 na12878 Variants: 24 chr15:86122779:T:C 8442_1480_494_W->R 24 chr15:86122654:T:C 8442_1355_452_M->T 24 chr15:86123019:C:T 8442_1720_574_R->C 24 chr15:86124483:C:G 8442_3184_1062_P->A 24 chr15:86124555:G:A 8442_3256_1086_D->N 24 chr15:86124946:T:C 8442_3647_1216_M->T 24 chr15:86286787:C:T 8442_8123_2708_P->L 24 snyder Variants: 24 chr15:86122779:T:C 8442_1480_494_W->R 24 chr15:86278309:G:A 8442_7369_2457_G->S 24 chr15:86122654:T:C 8442_1355_452_M->T 24 chr15:86123019:C:T 8442_1720_574_R->C 24 chr15:86124483:C:G 8442_3184_1062_P->A 24 chr15:86124555:G:A 8442_3256_1086_D->N 24 chr15:86124946:T:C 8442_3647_1216_M->T 25 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000170776_ENST00000361243 gene_Name: AKP13_HUMAN 25 list of pdbs: 25 2LG1 pdb_description: 03-Aug-11 NMR 20 Solution structure of the human akap13 ph domain and stabili helix 25 2DRN pdb_description: 29-Aug-06 NMR 13 Docking and dimerization domain (d/d) of the type ii-alpha regulatory subunity of protein kinase a (pka) in complex with a peptide from an a-kinase anchoring protein 25 Zimmer Variants: 25 chr15:86122779:T:C 8454_1480_494_W->R 25 chr15:86124616:A:G 8454_3317_1106_E->G 25 chr15:86122654:T:C 8454_1355_452_M->T 25 chr15:86123019:C:T 8454_1720_574_R->C 25 chr15:86124483:C:G 8454_3184_1062_P->A 25 chr15:86124555:G:A 8454_3256_1086_D->N 25 chr15:86124946:T:C 8454_3647_1216_M->T 25 chr15:86287867:G:A 8454_8413_2805_A->T 25 HGMD Variants: 25 chr15:86122875:A:C 8454_1576_526_K->Q 25 chr15:86123268:G:A 8454_1969_657_G->R 25 oneKG Variants: 25 chr15:86064750:G:A 8454_125_42_R->H 0.000399361 25 chr15:86076854:C:G 8454_221_74_A->G 0.000199681 25 chr15:86076886:G:T 8454_253_85_A->S 0.00199681 25 chr15:86076907:G:A 8454_274_92_V->I 0.000199681 25 chr15:86076913:G:C 8454_280_94_D->H 0.000199681 25 chr15:86077073:C:T 8454_440_147_T->M 0.000199681 25 chr15:86077097:A:G 8454_464_155_D->G 0.00239617 25 chr15:86077099:C:G 8454_466_156_Q->E 0.000199681 25 chr15:86087026:A:G 8454_502_168_M->V 0.000199681 25 chr15:86087092:C:T 8454_568_190_R->C 0.00179712 25 chr15:86087095:G:A 8454_571_191_G->R 0.00599042 25 chr15:86087099:C:T 8454_575_192_A->V 0.00139776 25 chr15:86087165:A:G 8454_641_214_K->R 0.000199681 25 chr15:86118372:G:C 8454_673_225_G->R 0.000399361 25 chr15:86118412:C:T 8454_713_238_P->L 0.000199681 25 chr15:86118415:A:C 8454_716_239_Y->S 0.000199681 25 chr15:86118445:A:T 8454_746_249_E->V 0.000199681 25 chr15:86118525:A:G 8454_826_276_I->V 0.000399361 25 chr15:86118538:T:C 8454_839_280_M->T 0.000199681 25 chr15:86118552:C:G 8454_853_285_Q->E 0.000199681 25 chr15:86122285:G:A 8454_986_329_R->Q 0.000399361 25 chr15:86122291:C:T 8454_992_331_S->F 0.00259585 25 chr15:86122299:G:A 8454_1000_334_E->K 0.0061901 25 chr15:86122314:A:T 8454_1015_339_T->S 0.00239617 25 chr15:86122330:G:A 8454_1031_344_G->E 0.000399361 25 chr15:86122393:C:T 8454_1094_365_T->I 0.000199681 25 chr15:86122398:C:G 8454_1099_367_R->G 0.00159744 25 chr15:86122425:G:A 8454_1126_376_V->M 0.00259585 25 chr15:86122438:G:C 8454_1139_380_G->A 0.00119808 25 chr15:86122483:C:G 8454_1184_395_S->C 0.00139776 25 chr15:86122534:C:T 8454_1235_412_T->M 0.000199681 25 chr15:86122552:G:C 8454_1253_418_C->S 0.000199681 25 chr15:86122557:A:G 8454_1258_420_N->D 0.000199681 25 chr15:86122591:G:T 8454_1292_431_G->V 0.000199681 25 chr15:86122604:C:A 8454_1305_435_D->E 0.000199681 25 chr15:86122617:A:C 8454_1318_440_S->R 0.000399361 25 chr15:86122654:T:C 8454_1355_452_M->T 0.416933 25 chr15:86122668:G:A 8454_1369_457_A->T 0.000199681 25 chr15:86122731:A:G 8454_1432_478_T->A 0.000399361 25 chr15:86122753:G:A 8454_1454_485_G->E 0.000199681 25 chr15:86122760:G:A 8454_1461_487_M->I 0.000798722 25 chr15:86122765:C:T 8454_1466_489_P->L 0.00219649 25 chr15:86122767:G:A 8454_1468_490_D->N 0.000199681 25 chr15:86122779:T:C 8454_1480_494_W->R 0.403754 25 chr15:86122873:G:A 8454_1574_525_S->N 0.000199681 25 chr15:86122875:A:C 8454_1576_526_K->Q 0.0131789 25 chr15:86122879:C:G 8454_1580_527_P->R 0.00179712 25 chr15:86122909:C:T 8454_1610_537_A->V 0.000798722 25 chr15:86122938:A:C 8454_1639_547_K->Q 0.000199681 25 chr15:86122960:C:G 8454_1661_554_A->G 0.000399361 25 chr15:86122966:G:A 8454_1667_556_S->N 0.000998403 25 chr15:86122978:C:T 8454_1679_560_T->I 0.000199681 25 chr15:86123002:C:T 8454_1703_568_T->M 0.000199681 25 chr15:86123019:C:T 8454_1720_574_R->C 0.416933 25 chr15:86123049:C:A 8454_1750_584_Q->K 0.000399361 25 chr15:86123077:C:G 8454_1778_593_A->G 0.00239617 25 chr15:86123085:A:G 8454_1786_596_K->E 0.0203674 25 chr15:86123107:C:G 8454_1808_603_P->R 0.000399361 25 chr15:86123170:G:T 8454_1871_624_G->V 0.134585 25 chr15:86123190:C:T 8454_1891_631_P->S 0.000199681 25 chr15:86123250:C:T 8454_1951_651_P->S 0.000199681 25 chr15:86123364:G:A 8454_2065_689_E->K 0.0760783 25 chr15:86123392:C:G 8454_2093_698_P->R 0.000199681 25 chr15:86123436:C:A 8454_2137_713_Q->K 0.000199681 25 chr15:86123457:G:T 8454_2158_720_D->Y 0.00279553 25 chr15:86123489:T:A 8454_2190_730_D->E 0.000599042 25 chr15:86123654:C:G 8454_2355_785_F->L 0.000798722 25 chr15:86123716:C:G 8454_2417_806_P->R 0.000199681 25 chr15:86123770:A:T 8454_2471_824_Y->F 0.00179712 25 chr15:86123786:T:A 8454_2487_829_D->E 0.000199681 25 chr15:86123809:C:T 8454_2510_837_T->M 0.00199681 25 chr15:86123812:G:A 8454_2513_838_R->Q 0.000199681 25 chr15:86123833:T:C,G 8454_2534_845_V->A 0.417931 25 chr15:86123833:T:C,G 8454_2534_845_V->G 0.417931 25 chr15:86123851:C:T 8454_2552_851_S->F 0.00519169 25 chr15:86123859:G:A 8454_2560_854_A->T 0.000199681 25 chr15:86123914:A:G 8454_2615_872_H->R 0.000199681 25 chr15:86123932:C:T 8454_2633_878_P->L 0.000599042 25 chr15:86123955:A:G 8454_2656_886_I->V 0.000599042 25 chr15:86123988:G:A 8454_2689_897_V->M 0.417931 25 chr15:86123997:G:A 8454_2698_900_A->T 0.000199681 25 chr15:86124061:C:G 8454_2762_921_S->C 0.00678914 25 chr15:86124091:C:T 8454_2792_931_A->V 0.000199681 25 chr15:86124129:T:C 8454_2830_944_S->P 0.00119808 25 chr15:86124150:C:G 8454_2851_951_Q->E 0.00239617 25 chr15:86124303:G:A 8454_3004_1002_A->T 0.000798722 25 chr15:86124312:G:A 8454_3013_1005_V->I 0.000199681 25 chr15:86124339:G:T 8454_3040_1014_A->S 0.000199681 25 chr15:86124357:C:T 8454_3058_1020_P->S 0.000199681 25 chr15:86124483:C:G 8454_3184_1062_P->A 0.418131 25 chr15:86124499:T:G 8454_3200_1067_V->G 0.000399361 25 chr15:86124555:G:A 8454_3256_1086_D->N 0.41873 25 chr15:86124611:A:T 8454_3312_1104_R->S 0.000199681 25 chr15:86124616:A:G 8454_3317_1106_E->G 0.0690895 25 chr15:86124651:C:T 8454_3352_1118_P->S 0.000199681 25 chr15:86124712:A:G 8454_3413_1138_D->G 0.0155751 25 chr15:86124718:C:T 8454_3419_1140_A->V 0.000199681 25 chr15:86124774:A:G 8454_3475_1159_K->E 0.000199681 25 chr15:86124781:A:G 8454_3482_1161_K->R 0.000199681 25 chr15:86124819:G:A 8454_3520_1174_A->T 0.000199681 25 chr15:86124917:T:A 8454_3618_1206_D->E 0.000199681 25 chr15:86124925:C:T 8454_3626_1209_P->L 0.000798722 25 chr15:86124933:G:A 8454_3634_1212_V->M 0.000199681 25 chr15:86124946:T:C 8454_3647_1216_M->T 0.417332 25 chr15:86124996:A:G 8454_3697_1233_M->V 0.000399361 25 chr15:86125080:G:A 8454_3781_1261_E->K 0.000399361 25 chr15:86125081:A:T 8454_3782_1261_E->V 0.000798722 25 chr15:86125089:A:G 8454_3790_1264_K->E 0.000199681 25 chr15:86125098:G:C 8454_3799_1267_G->R 0.000798722 25 chr15:86125126:G:A 8454_3827_1276_C->Y 0.000199681 25 chr15:86125128:C:T 8454_3829_1277_H->Y 0.000199681 25 chr15:86125236:A:G 8454_3937_1313_S->G 0.000399361 25 chr15:86182635:C:T 8454_4192_1398_P->S 0.000399361 25 chr15:86182662:G:A 8454_4219_1407_A->T 0.000399361 25 chr15:86189180:C:G 8454_4369_1457_P->A 0.000199681 25 chr15:86198706:C:T 8454_4433_1478_T->M 0.000199681 25 chr15:86198727:C:T 8454_4454_1485_S->F 0.000199681 25 chr15:86198738:A:G 8454_4465_1489_S->G 0.000199681 25 chr15:86198745:T:C 8454_4472_1491_V->A 0.000199681 25 chr15:86198772:A:G 8454_4499_1500_N->S 0.000199681 25 chr15:86198787:G:A 8454_4514_1505_R->Q 0.000199681 25 chr15:86198808:A:G 8454_4535_1512_Y->C 0.000199681 25 chr15:86198846:A:G 8454_4573_1525_S->G 0.0199681 25 chr15:86198893:T:G 8454_4620_1540_S->R 0.000399361 25 chr15:86198964:A:G 8454_4691_1564_H->R 0.000199681 25 chr15:86199007:G:T 8454_4734_1578_M->I 0.000199681 25 chr15:86199018:G:A 8454_4745_1582_S->N 0.000199681 25 chr15:86205642:T:C 8454_4769_1590_V->A 0.000199681 25 chr15:86205654:C:T 8454_4781_1594_A->V 0.000199681 25 chr15:86207857:A:T 8454_4875_1625_E->D 0.000998403 25 chr15:86207925:T:C 8454_4943_1648_V->A 0.0091853 25 chr15:86213005:C:T 8454_5057_1686_S->F 0.000199681 25 chr15:86228004:A:G 8454_5201_1734_H->R 0.000199681 25 chr15:86236589:G:A 8454_5383_1795_G->R 0.000199681 25 chr15:86236613:G:A 8454_5407_1803_V->I 0.000199681 25 chr15:86236629:G:C 8454_5423_1808_S->T 0.000199681 25 chr15:86253813:C:T 8454_5548_1850_P->S 0.000199681 25 chr15:86253835:A:G 8454_5570_1857_H->R 0.000199681 25 chr15:86259072:G:A 8454_5665_1889_A->T 0.000798722 25 chr15:86259093:A:T 8454_5686_1896_N->Y 0.000199681 25 chr15:86259124:C:G 8454_5717_1906_S->C 0.000199681 25 chr15:86261322:G:A 8454_5945_1982_R->Q 0.000998403 25 chr15:86265328:G:A 8454_6371_2124_R->H 0.000199681 25 chr15:86265509:A:C 8454_6439_2147_I->L 0.00379393 25 chr15:86265560:A:C 8454_6490_2164_I->L 0.000199681 25 chr15:86266306:A:G 8454_6512_2171_N->S 0.000399361 25 chr15:86266342:G:A 8454_6548_2183_S->N 0.000199681 25 chr15:86266375:G:A 8454_6581_2194_S->N 0.000199681 25 chr15:86266405:G:A 8454_6611_2204_R->H 0.000199681 25 chr15:86266411:A:G 8454_6617_2206_N->S 0.000199681 25 chr15:86266420:A:T 8454_6626_2209_Y->F 0.000199681 25 chr15:86270345:G:A 8454_6883_2295_V->M 0.000199681 25 chr15:86270452:G:T 8454_6990_2330_Q->H 0.000199681 25 chr15:86273745:A:C 8454_7101_2367_E->D 0.00159744 25 chr15:86273754:C:A 8454_7110_2370_H->Q 0.0121805 25 chr15:86273756:A:G 8454_7112_2371_Q->R 0.000199681 25 chr15:86273831:C:G 8454_7187_2396_P->R 0.0141773 25 chr15:86273878:C:T 8454_7234_2412_R->C 0.000399361 25 chr15:86273886:C:A 8454_7242_2414_N->K 0.00119808 25 chr15:86278286:G:A 8454_7358_2453_S->N 0.000399361 25 chr15:86278309:G:A 8454_7381_2461_G->S 0.136581 25 chr15:86278319:C:T 8454_7391_2464_S->F 0.000199681 25 chr15:86278360:C:T 8454_7432_2478_H->Y 0.000199681 25 chr15:86278811:G:A 8454_7474_2492_D->N 0.000199681 25 chr15:86279346:T:C 8454_7550_2517_M->T 0.000199681 25 chr15:86283483:G:A 8454_7600_2534_E->K 0.000798722 25 chr15:86284277:G:T 8454_7621_2541_G->C 0.00139776 25 chr15:86284331:G:C 8454_7675_2559_E->Q 0.000199681 25 chr15:86284334:A:G 8454_7678_2560_R->G 0.000199681 25 chr15:86284335:G:A 8454_7679_2560_R->K 0.000599042 25 chr15:86284374:T:C 8454_7718_2573_I->T 0.000199681 25 chr15:86284472:G:A 8454_7816_2606_E->K 0.00119808 25 chr15:86284478:G:C 8454_7822_2608_E->Q 0.000199681 25 chr15:86284495:G:C 8454_7839_2613_E->D 0.000599042 25 chr15:86284512:G:A 8454_7856_2619_R->Q 0.00159744 25 chr15:86284532:C:T 8454_7876_2626_R->C 0.000199681 25 chr15:86284561:G:C 8454_7905_2635_Q->H 0.000199681 25 chr15:86284700:C:T 8454_8044_2682_R->W 0.00738818 25 chr15:86284707:C:T 8454_8051_2684_T->I 0.000199681 25 chr15:86286760:C:T 8454_8108_2703_S->L 0.000199681 25 chr15:86286787:C:T 8454_8135_2712_P->L 0.0555112 25 chr15:86286805:C:T 8454_8153_2718_S->F 0.000199681 25 chr15:86286870:C:T 8454_8218_2740_R->W 0.000199681 25 chr15:86286942:C:G 8454_8290_2764_Q->E 0.00179712 25 chr15:86287028:G:C 8454_8376_2792_K->N 0.00139776 25 chr15:86287031:C:A 8454_8379_2793_N->K 0.0670927 25 chr15:86287036:C:T 8454_8384_2795_T->I 0.000199681 25 chr15:86287865:C:A 8454_8411_2804_P->H 0.000399361 25 chr15:86287867:G:A 8454_8413_2805_A->T 0.188498 25 chr15:86287868:C:T 8454_8414_2805_A->V 0.000199681 25 chr15:86287889:G:A 8454_8435_2812_G->D 0.000199681 25 na12878 Variants: 25 chr15:86122779:T:C 8454_1480_494_W->R 25 chr15:86122654:T:C 8454_1355_452_M->T 25 chr15:86123019:C:T 8454_1720_574_R->C 25 chr15:86124483:C:G 8454_3184_1062_P->A 25 chr15:86124555:G:A 8454_3256_1086_D->N 25 chr15:86124946:T:C 8454_3647_1216_M->T 25 chr15:86286787:C:T 8454_8135_2712_P->L 25 snyder Variants: 25 chr15:86122779:T:C 8454_1480_494_W->R 25 chr15:86278309:G:A 8454_7381_2461_G->S 25 chr15:86122654:T:C 8454_1355_452_M->T 25 chr15:86123019:C:T 8454_1720_574_R->C 25 chr15:86124483:C:G 8454_3184_1062_P->A 25 chr15:86124555:G:A 8454_3256_1086_D->N 25 chr15:86124946:T:C 8454_3647_1216_M->T 26 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103494_ENST00000262135 gene_Name: FTM_HUMAN 26 list of pdbs: 26 2YRB pdb_description: 02-Oct-07 NMR 20 Solution structure of the first c2 domain from human kiaa1005 protein 26 Zimmer Variants: 26 chr16:53671754:C:T 3708_2971_991_G->S 26 chr16:53720436:C:T 3708_685_229_A->T 26 HGMD Variants: 26 chr16:53679606:G:A 3708_2614_872_Q->* 26 chr16:53679807:G:A 3708_2413_805_R->* 26 chr16:53686549:G:A 3708_2050_684_Q->* 26 chr16:53686654:G:A 3708_1945_649_R->* 26 chr16:53705492:G:A 3708_1033_345_Q->* 26 chr16:53720364:G:A 3708_757_253_Q->* 26 chr16:53720424:T:A 3708_697_233_K->* 26 chr16:53726113:T:A 3708_394_132_R->* 26 chr16:53639438:C:A 3708_3550_1184_D->Y 26 chr16:53639522:G:A 3708_3466_1156_R->C 26 chr16:53653005:G:C 3708_3308_1103_A->G 26 chr16:53675261:C:A 3708_2810_937_R->L 26 chr16:53679770:T:C 3708_2450_817_Y->C 26 chr16:53682949:C:T 3708_2231_744_R->Q 26 chr16:53686516:C:G 3708_2083_695_A->P 26 chr16:53686569:G:A 3708_2030_677_T->I 26 chr16:53686624:A:G 3708_1975_659_S->P 26 chr16:53686660:C:T 3708_1939_647_V->I 26 chr16:53686702:A:G 3708_1897_633_C->R 26 chr16:53686756:T:G 3708_1843_615_T->P 26 chr16:53686770:T:G 3708_1829_610_H->P 26 chr16:53690434:T:C 3708_1649_550_Q->R 26 chr16:53690447:G:A 3708_1636_546_L->F 26 chr16:53692694:A:G 3708_1340_447_L->S 26 chr16:53698848:C:T 3708_1177_393_E->K 26 chr16:53720436:C:T 3708_685_229_A->T 26 chr16:53721812:T:C 3708_595_199_S->G 26 chr16:53726041:G:A 3708_466_156_R->C 26 oneKG Variants: 26 chr16:53720424:T:A 3708_697_233_K->* 0.000199681 26 chr16:53721808:A:C 3708_599_200_L->* 0.000199681 26 chr16:53726197:G:A 3708_310_104_R->* 0.000199681 26 chr16:53636008:T:C 3708_3688_1230_R->G 0.000199681 26 chr16:53636097:A:G 3708_3599_1200_F->S 0.000399361 26 chr16:53639438:C:T 3708_3550_1184_D->N 0.0990415 26 chr16:53639459:C:T 3708_3529_1177_V->M 0.000199681 26 chr16:53639483:C:A 3708_3505_1169_D->Y 0.00119808 26 chr16:53639489:C:T 3708_3499_1167_E->K 0.000199681 26 chr16:53644930:T:C 3708_3410_1137_K->R 0.000199681 26 chr16:53652996:G:A 3708_3317_1106_T->I 0.000199681 26 chr16:53653005:G:C 3708_3308_1103_A->G 0.00359425 26 chr16:53653041:C:T 3708_3272_1091_R->Q 0.000199681 26 chr16:53653042:G:A 3708_3271_1091_R->W 0.000399361 26 chr16:53653056:T:A 3708_3257_1086_D->V 0.000199681 26 chr16:53653104:C:T 3708_3209_1070_R->Q 0.000199681 26 chr16:53670391:T:C 3708_3152_1051_D->G 0.000199681 26 chr16:53671672:A:C 3708_3053_1018_L->R 0.000199681 26 chr16:53671711:T:C 3708_3014_1005_Q->R 0.000199681 26 chr16:53671754:C:T 3708_2971_991_G->S 0.166134 26 chr16:53671766:C:T 3708_2959_987_V->I 0.000199681 26 chr16:53674971:C:T 3708_2932_978_V->M 0.000199681 26 chr16:53675232:G:A 3708_2839_947_L->F 0.000199681 26 chr16:53675264:A:C 3708_2807_936_I->S 0.00119808 26 chr16:53675300:C:T 3708_2771_924_S->N 0.000199681 26 chr16:53675304:G:A 3708_2767_923_P->S 0.000199681 26 chr16:53679548:C:T 3708_2672_891_R->K 0.000399361 26 chr16:53679555:G:T 3708_2665_889_H->N 0.000199681 26 chr16:53679577:A:T 3708_2643_881_N->K 0.00259585 26 chr16:53679806:C:T 3708_2414_805_R->Q 0.000199681 26 chr16:53679821:T:G 3708_2399_800_N->T 0.000199681 26 chr16:53682940:C:T 3708_2240_747_R->Q 0.000199681 26 chr16:53682949:C:T 3708_2231_744_R->Q 0.0621006 26 chr16:53682979:C:T 3708_2201_734_R->Q 0.000199681 26 chr16:53686477:C:T 3708_2122_708_G->S 0.000399361 26 chr16:53686494:T:C 3708_2105_702_E->G 0.000399361 26 chr16:53686495:C:T 3708_2104_702_E->K 0.000199681 26 chr16:53686569:G:A 3708_2030_677_T->I 0.00119808 26 chr16:53686599:T:C 3708_2000_667_D->G 0.000199681 26 chr16:53686639:C:T 3708_1960_654_E->K 0.00159744 26 chr16:53686653:C:T 3708_1946_649_R->Q 0.000199681 26 chr16:53686783:G:C 3708_1816_606_L->V 0.000599042 26 chr16:53686789:C:T 3708_1810_604_E->K 0.000798722 26 chr16:53686791:C:T 3708_1808_603_G->D 0.000199681 26 chr16:53686851:G:C 3708_1748_583_P->R 0.0 26 chr16:53686863:T:C 3708_1736_579_Y->C 0.000199681 26 chr16:53686890:T:C 3708_1709_570_K->R 0.000399361 26 chr16:53686899:G:A 3708_1700_567_A->V 0.000199681 26 chr16:53690413:A:G 3708_1670_557_I->T 0.000199681 26 chr16:53690423:G:T 3708_1660_554_L->I 0.00139776 26 chr16:53691466:A:C 3708_1480_494_S->A 0.000199681 26 chr16:53692694:A:G 3708_1340_447_L->S 0.00159744 26 chr16:53692737:C:T 3708_1297_433_E->K 0.000199681 26 chr16:53692754:A:G 3708_1280_427_L->P 0.000199681 26 chr16:53698835:T:G 3708_1190_397_K->T 0.000199681 26 chr16:53698860:T:C 3708_1165_389_I->V 0.00439297 26 chr16:53698862:T:C 3708_1163_388_Q->R 0.000199681 26 chr16:53698869:T:C 3708_1156_386_K->E 0.000399361 26 chr16:53698905:G:A 3708_1120_374_H->Y 0.00119808 26 chr16:53705440:T:C 3708_1085_362_Y->C 0.000199681 26 chr16:53706849:C:T 3708_962_321_R->H 0.000399361 26 chr16:53706892:T:A 3708_919_307_M->L 0.000199681 26 chr16:53706901:C:T 3708_910_304_D->N 0.000599042 26 chr16:53706921:C:G 3708_890_297_R->T 0.000199681 26 chr16:53708949:T:G 3708_862_288_K->Q 0.000199681 26 chr16:53720354:G:A 3708_767_256_T->I 0.000399361 26 chr16:53720373:G:A 3708_748_250_L->F 0.000199681 26 chr16:53720412:T:A 3708_709_237_R->W 0.000199681 26 chr16:53720436:C:T 3708_685_229_A->T 0.0533147 26 chr16:53720481:C:T 3708_640_214_V->I 0.00259585 26 chr16:53721875:T:C 3708_532_178_I->V 0.00119808 26 chr16:53726001:C:A 3708_506_169_G->V 0.000199681 26 chr16:53726025:C:T 3708_482_161_R->H 0.00139776 26 chr16:53726026:G:A 3708_481_161_R->C 0.000399361 26 chr16:53726041:G:A 3708_466_156_R->C 0.000199681 26 chr16:53726220:C:T 3708_287_96_G->D 0.000199681 26 chr16:53726226:C:T 3708_281_94_R->Q 0.000199681 26 chr16:53726227:G:A 3708_280_94_R->W 0.000199681 26 chr16:53726256:C:T 3708_251_84_R->Q 0.000798722 26 chr16:53730087:C:T 3708_206_69_R->H 0.00199681 26 chr16:53730122:C:A 3708_171_57_L->F 0.000199681 26 chr16:53730126:C:T 3708_167_56_R->H 0.000199681 26 chr16:53730193:G:C 3708_100_34_R->G 0.000199681 26 chr16:53734562:C:A 3708_74_25_G->V 0.000199681 26 na12878 Variants: 26 chr16:53682949:C:T 3708_2231_744_R->Q 26 snyder Variants: 26 chr16:53671754:C:T 3708_2971_991_G->S 26 chr16:53720436:C:T 3708_685_229_A->T 27 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103494_ENST00000379925 gene_Name: FTM_HUMAN 27 list of pdbs: 27 2YRB pdb_description: 02-Oct-07 NMR 20 Solution structure of the first c2 domain from human kiaa1005 protein 27 Zimmer Variants: 27 chr16:53671754:C:T 3948_3073_1025_G->S 27 chr16:53720436:C:T 3948_685_229_A->T 27 HGMD Variants: 27 chr16:53679606:G:A 3948_2614_872_Q->* 27 chr16:53679807:G:A 3948_2413_805_R->* 27 chr16:53686549:G:A 3948_2050_684_Q->* 27 chr16:53686654:G:A 3948_1945_649_R->* 27 chr16:53705492:G:A 3948_1033_345_Q->* 27 chr16:53720364:G:A 3948_757_253_Q->* 27 chr16:53720424:T:A 3948_697_233_K->* 27 chr16:53726113:T:A 3948_394_132_R->* 27 chr16:53639438:C:A 3948_3790_1264_D->Y 27 chr16:53639522:G:A 3948_3706_1236_R->C 27 chr16:53653005:G:C 3948_3548_1183_A->G 27 chr16:53675261:C:A 3948_2810_937_R->L 27 chr16:53679770:T:C 3948_2450_817_Y->C 27 chr16:53682949:C:T 3948_2231_744_R->Q 27 chr16:53686516:C:G 3948_2083_695_A->P 27 chr16:53686569:G:A 3948_2030_677_T->I 27 chr16:53686624:A:G 3948_1975_659_S->P 27 chr16:53686660:C:T 3948_1939_647_V->I 27 chr16:53686702:A:G 3948_1897_633_C->R 27 chr16:53686756:T:G 3948_1843_615_T->P 27 chr16:53686770:T:G 3948_1829_610_H->P 27 chr16:53690434:T:C 3948_1649_550_Q->R 27 chr16:53690447:G:A 3948_1636_546_L->F 27 chr16:53692694:A:G 3948_1340_447_L->S 27 chr16:53698848:C:T 3948_1177_393_E->K 27 chr16:53720436:C:T 3948_685_229_A->T 27 chr16:53721812:T:C 3948_595_199_S->G 27 chr16:53726041:G:A 3948_466_156_R->C 27 oneKG Variants: 27 chr16:53720424:T:A 3948_697_233_K->* 0.000199681 27 chr16:53721808:A:C 3948_599_200_L->* 0.000199681 27 chr16:53726197:G:A 3948_310_104_R->* 0.000199681 27 chr16:53636008:T:C 3948_3928_1310_R->G 0.000199681 27 chr16:53636097:A:G 3948_3839_1280_F->S 0.000399361 27 chr16:53639438:C:T 3948_3790_1264_D->N 0.0990415 27 chr16:53639459:C:T 3948_3769_1257_V->M 0.000199681 27 chr16:53639483:C:A 3948_3745_1249_D->Y 0.00119808 27 chr16:53639489:C:T 3948_3739_1247_E->K 0.000199681 27 chr16:53644930:T:C 3948_3650_1217_K->R 0.000199681 27 chr16:53652996:G:A 3948_3557_1186_T->I 0.000199681 27 chr16:53653005:G:C 3948_3548_1183_A->G 0.00359425 27 chr16:53653041:C:T 3948_3512_1171_R->Q 0.000199681 27 chr16:53653042:G:A 3948_3511_1171_R->W 0.000399361 27 chr16:53653056:T:A 3948_3497_1166_D->V 0.000199681 27 chr16:53653104:C:T 3948_3449_1150_R->Q 0.000199681 27 chr16:53656135:G:C 3948_3428_1143_T->S 0.136981 27 chr16:53656168:T:C 3948_3395_1132_Q->R 0.00998403 27 chr16:53656211:A:G 3948_3352_1118_F->L 0.000199681 27 chr16:53656250:C:T 3948_3313_1105_G->R 0.000599042 27 chr16:53670391:T:C 3948_3254_1085_D->G 0.000199681 27 chr16:53671672:A:C 3948_3155_1052_L->R 0.000199681 27 chr16:53671711:T:C 3948_3116_1039_Q->R 0.000199681 27 chr16:53671754:C:T 3948_3073_1025_G->S 0.166134 27 chr16:53671766:C:T 3948_3061_1021_V->I 0.000199681 27 chr16:53672272:G:A 3948_3010_1004_H->Y 0.000798722 27 chr16:53674971:C:T 3948_2932_978_V->M 0.000199681 27 chr16:53675232:G:A 3948_2839_947_L->F 0.000199681 27 chr16:53675264:A:C 3948_2807_936_I->S 0.00119808 27 chr16:53675300:C:T 3948_2771_924_S->N 0.000199681 27 chr16:53675304:G:A 3948_2767_923_P->S 0.000199681 27 chr16:53679548:C:T 3948_2672_891_R->K 0.000399361 27 chr16:53679555:G:T 3948_2665_889_H->N 0.000199681 27 chr16:53679577:A:T 3948_2643_881_N->K 0.00259585 27 chr16:53679806:C:T 3948_2414_805_R->Q 0.000199681 27 chr16:53679821:T:G 3948_2399_800_N->T 0.000199681 27 chr16:53682940:C:T 3948_2240_747_R->Q 0.000199681 27 chr16:53682949:C:T 3948_2231_744_R->Q 0.0621006 27 chr16:53682979:C:T 3948_2201_734_R->Q 0.000199681 27 chr16:53686477:C:T 3948_2122_708_G->S 0.000399361 27 chr16:53686494:T:C 3948_2105_702_E->G 0.000399361 27 chr16:53686495:C:T 3948_2104_702_E->K 0.000199681 27 chr16:53686569:G:A 3948_2030_677_T->I 0.00119808 27 chr16:53686599:T:C 3948_2000_667_D->G 0.000199681 27 chr16:53686639:C:T 3948_1960_654_E->K 0.00159744 27 chr16:53686653:C:T 3948_1946_649_R->Q 0.000199681 27 chr16:53686783:G:C 3948_1816_606_L->V 0.000599042 27 chr16:53686789:C:T 3948_1810_604_E->K 0.000798722 27 chr16:53686791:C:T 3948_1808_603_G->D 0.000199681 27 chr16:53686851:G:C 3948_1748_583_P->R 0.0 27 chr16:53686863:T:C 3948_1736_579_Y->C 0.000199681 27 chr16:53686890:T:C 3948_1709_570_K->R 0.000399361 27 chr16:53686899:G:A 3948_1700_567_A->V 0.000199681 27 chr16:53690413:A:G 3948_1670_557_I->T 0.000199681 27 chr16:53690423:G:T 3948_1660_554_L->I 0.00139776 27 chr16:53691466:A:C 3948_1480_494_S->A 0.000199681 27 chr16:53692694:A:G 3948_1340_447_L->S 0.00159744 27 chr16:53692737:C:T 3948_1297_433_E->K 0.000199681 27 chr16:53692754:A:G 3948_1280_427_L->P 0.000199681 27 chr16:53698835:T:G 3948_1190_397_K->T 0.000199681 27 chr16:53698860:T:C 3948_1165_389_I->V 0.00439297 27 chr16:53698862:T:C 3948_1163_388_Q->R 0.000199681 27 chr16:53698869:T:C 3948_1156_386_K->E 0.000399361 27 chr16:53698905:G:A 3948_1120_374_H->Y 0.00119808 27 chr16:53705440:T:C 3948_1085_362_Y->C 0.000199681 27 chr16:53706849:C:T 3948_962_321_R->H 0.000399361 27 chr16:53706892:T:A 3948_919_307_M->L 0.000199681 27 chr16:53706901:C:T 3948_910_304_D->N 0.000599042 27 chr16:53706921:C:G 3948_890_297_R->T 0.000199681 27 chr16:53708949:T:G 3948_862_288_K->Q 0.000199681 27 chr16:53720354:G:A 3948_767_256_T->I 0.000399361 27 chr16:53720373:G:A 3948_748_250_L->F 0.000199681 27 chr16:53720412:T:A 3948_709_237_R->W 0.000199681 27 chr16:53720436:C:T 3948_685_229_A->T 0.0533147 27 chr16:53720481:C:T 3948_640_214_V->I 0.00259585 27 chr16:53721875:T:C 3948_532_178_I->V 0.00119808 27 chr16:53726001:C:A 3948_506_169_G->V 0.000199681 27 chr16:53726025:C:T 3948_482_161_R->H 0.00139776 27 chr16:53726026:G:A 3948_481_161_R->C 0.000399361 27 chr16:53726041:G:A 3948_466_156_R->C 0.000199681 27 chr16:53726220:C:T 3948_287_96_G->D 0.000199681 27 chr16:53726226:C:T 3948_281_94_R->Q 0.000199681 27 chr16:53726227:G:A 3948_280_94_R->W 0.000199681 27 chr16:53726256:C:T 3948_251_84_R->Q 0.000798722 27 chr16:53730087:C:T 3948_206_69_R->H 0.00199681 27 chr16:53730122:C:A 3948_171_57_L->F 0.000199681 27 chr16:53730126:C:T 3948_167_56_R->H 0.000199681 27 chr16:53730193:G:C 3948_100_34_R->G 0.000199681 27 chr16:53734562:C:A 3948_74_25_G->V 0.000199681 27 na12878 Variants: 27 chr16:53682949:C:T 3948_2231_744_R->Q 27 snyder Variants: 27 chr16:53671754:C:T 3948_3073_1025_G->S 27 chr16:53720436:C:T 3948_685_229_A->T 28 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103051_ENST00000323786 gene_Name: 28 list of pdbs: 28 3HR0 pdb_description: 21-Jul-09 X-ray 1.900 Crystal structure of homo sapiens conserved oligomeric golgi subunit 4 28 Zimmer Variants: 28 chr16:70548297:G:A 2370_485_162_T->I 28 HGMD Variants: 28 chr16:70546183:C:A 2370_697_233_E->* 28 chr16:70514965:A:C 2370_2318_773_L->R 28 chr16:70515300:G:A 2370_2197_733_R->W 28 oneKG Variants: 28 chr16:70514990:T:C 2370_2293_765_T->A 0.000199681 28 chr16:70514995:C:T 2370_2288_763_R->H 0.000399361 28 chr16:70515032:C:T 2370_2251_751_D->N 0.000399361 28 chr16:70515043:G:T 2370_2240_747_T->N 0.000199681 28 chr16:70515708:C:T 2370_2065_689_V->I 0.000199681 28 chr16:70515732:C:T 2370_2041_681_G->S 0.000399361 28 chr16:70515744:C:T 2370_2029_677_D->N 0.000199681 28 chr16:70515767:G:C 2370_2006_669_A->G 0.000199681 28 chr16:70516038:T:C 2370_1961_654_Q->R 0.000199681 28 chr16:70516072:A:G 2370_1927_643_F->L 0.000798722 28 chr16:70516658:A:G 2370_1894_632_F->L 0.000399361 28 chr16:70517824:G:T 2370_1759_587_Q->K 0.00239617 28 chr16:70524280:C:T 2370_1663_555_V->M 0.000199681 28 chr16:70530311:C:T 2370_1505_502_R->Q 0.000199681 28 chr16:70531233:C:T 2370_1372_458_V->I 0.000199681 28 chr16:70531247:C:A 2370_1358_453_S->I 0.000399361 28 chr16:70531944:G:T 2370_1210_404_L->M 0.000199681 28 chr16:70531946:C:T 2370_1208_403_C->Y 0.000199681 28 chr16:70534933:G:A 2370_1123_375_R->C 0.000599042 28 chr16:70534950:C:T 2370_1106_369_R->H 0.000199681 28 chr16:70534984:G:T 2370_1072_358_P->T 0.000599042 28 chr16:70542339:C:G 2370_1031_344_R->T 0.000199681 28 chr16:70543283:G:A 2370_853_285_R->C 0.000199681 28 chr16:70543852:T:C 2370_811_271_I->V 0.00159744 28 chr16:70546161:G:A 2370_719_240_S->L 0.000199681 28 chr16:70546236:T:C 2370_644_215_D->G 0.000199681 28 chr16:70546288:G:A 2370_592_198_R->C 0.00159744 28 chr16:70546332:C:T 2370_548_183_S->N 0.000399361 28 chr16:70548288:T:C 2370_494_165_Y->C 0.000199681 28 chr16:70548297:G:A 2370_485_162_T->I 0.040535 28 chr16:70548318:T:C 2370_464_155_Y->C 0.000199681 28 chr16:70551542:A:G 2370_356_119_L->P 0.000199681 28 chr16:70551549:G:A 2370_349_117_R->C 0.000399361 28 chr16:70551552:C:A 2370_346_116_V->F 0.000199681 28 chr16:70551631:C:A 2370_267_89_Q->H 0.000998403 28 chr16:70551632:T:G 2370_266_89_Q->P 0.000998403 28 chr16:70557296:C:G 2370_151_51_E->Q 0.000199681 28 chr16:70557302:C:G 2370_145_49_V->L 0.000199681 28 chr16:70557331:G:C 2370_116_39_S->C 0.000199681 28 chr16:70557359:A:G 2370_88_30_S->P 0.000199681 28 chr16:70557403:G:A 2370_44_15_S->L 0.000199681 28 chr16:70557409:T:C 2370_38_13_K->R 0.000199681 28 na12878 Variants: 28 chr16:70548297:G:A 2370_485_162_T->I 28 snyder Variants: 28 chr16:70548297:G:A 2370_485_162_T->I 29 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103051_ENST00000482252 gene_Name: COG4_HUMAN 29 list of pdbs: 29 3HR0 pdb_description: 21-Jul-09 X-ray 1.900 Crystal structure of homo sapiens conserved oligomeric golgi subunit 4 29 Zimmer Variants: 29 chr16:70548297:G:A 1014_473_158_T->I 29 HGMD Variants: 29 chr16:70546183:C:A 1014_685_229_E->* 29 oneKG Variants: 29 chr16:70542721:C:T 1014_997_333_V->I 0.0930511 29 chr16:70543283:G:A 1014_841_281_R->C 0.000199681 29 chr16:70543852:T:C 1014_799_267_I->V 0.00159744 29 chr16:70546161:G:A 1014_707_236_S->L 0.000199681 29 chr16:70546236:T:C 1014_632_211_D->G 0.000199681 29 chr16:70546288:G:A 1014_580_194_R->C 0.00159744 29 chr16:70546332:C:T 1014_536_179_S->N 0.000399361 29 chr16:70548288:T:C 1014_482_161_Y->C 0.000199681 29 chr16:70548297:G:A 1014_473_158_T->I 0.040535 29 chr16:70548318:T:C 1014_452_151_Y->C 0.000199681 29 chr16:70551542:A:G 1014_344_115_L->P 0.000199681 29 chr16:70551549:G:A 1014_337_113_R->C 0.000399361 29 chr16:70551552:C:A 1014_334_112_V->F 0.000199681 29 chr16:70551631:C:A 1014_255_85_Q->H 0.000998403 29 chr16:70551632:T:G 1014_254_85_Q->P 0.000998403 29 chr16:70557296:C:G 1014_139_47_E->Q 0.000199681 29 chr16:70557302:C:G 1014_133_45_V->L 0.000199681 29 chr16:70557331:G:C 1014_104_35_S->C 0.000199681 29 chr16:70557359:A:G 1014_76_26_S->P 0.000199681 29 chr16:70557403:G:A 1014_32_11_S->L 0.000199681 29 chr16:70557409:T:C 1014_26_9_K->R 0.000199681 29 na12878 Variants: 29 chr16:70548297:G:A 1014_473_158_T->I 29 snyder Variants: 29 chr16:70548297:G:A 1014_473_158_T->I 30 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103051_ENST00000393612 gene_Name: COG4_HUMAN 30 list of pdbs: 30 3HR0 pdb_description: 21-Jul-09 X-ray 1.900 Crystal structure of homo sapiens conserved oligomeric golgi subunit 4 30 Zimmer Variants: 30 chr16:70548297:G:A 1014_473_158_T->I 30 HGMD Variants: 30 chr16:70546183:C:A 1014_685_229_E->* 30 oneKG Variants: 30 chr16:70542721:C:T 1014_997_333_V->I 0.0930511 30 chr16:70543283:G:A 1014_841_281_R->C 0.000199681 30 chr16:70543852:T:C 1014_799_267_I->V 0.00159744 30 chr16:70546161:G:A 1014_707_236_S->L 0.000199681 30 chr16:70546236:T:C 1014_632_211_D->G 0.000199681 30 chr16:70546288:G:A 1014_580_194_R->C 0.00159744 30 chr16:70546332:C:T 1014_536_179_S->N 0.000399361 30 chr16:70548288:T:C 1014_482_161_Y->C 0.000199681 30 chr16:70548297:G:A 1014_473_158_T->I 0.040535 30 chr16:70548318:T:C 1014_452_151_Y->C 0.000199681 30 chr16:70551542:A:G 1014_344_115_L->P 0.000199681 30 chr16:70551549:G:A 1014_337_113_R->C 0.000399361 30 chr16:70551552:C:A 1014_334_112_V->F 0.000199681 30 chr16:70551631:C:A 1014_255_85_Q->H 0.000998403 30 chr16:70551632:T:G 1014_254_85_Q->P 0.000998403 30 chr16:70557296:C:G 1014_139_47_E->Q 0.000199681 30 chr16:70557302:C:G 1014_133_45_V->L 0.000199681 30 chr16:70557331:G:C 1014_104_35_S->C 0.000199681 30 chr16:70557359:A:G 1014_76_26_S->P 0.000199681 30 chr16:70557403:G:A 1014_32_11_S->L 0.000199681 30 chr16:70557409:T:C 1014_26_9_K->R 0.000199681 30 na12878 Variants: 30 chr16:70548297:G:A 1014_473_158_T->I 30 snyder Variants: 30 chr16:70548297:G:A 1014_473_158_T->I 31 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167513_ENST00000301019 gene_Name: CDT1_HUMAN 31 list of pdbs: 31 2WVR pdb_description: 27-Oct-09 X-ray 3.300 Human cdt1:geminin complex 31 2LE8 pdb_description: 19-Dec-12 NMR 19 The protein complex for DNA replication 31 Zimmer Variants: 31 chr16:88872145:T:C 1641_700_234_C->R;HUB=PPI;GNEG=Yes;GENE=CDT1;CDSS=4 31 HGMD Variants: 31 chr16:88872277:G:T 1641_832_278_E->* 31 chr16:88873041:C:T 1641_1081_361_Q->* 31 chr16:88874605:C:A 1641_1560_520_Y->* 31 chr16:88870435:G:A 1641_196_66_A->T 31 chr16:88871075:G:C 1641_351_117_Q->H 31 chr16:88873770:C:T 1641_1357_453_R->W 31 chr16:88873798:G:A 1641_1385_462_R->Q 31 chr16:88873815:G:A 1641_1402_468_E->K 31 oneKG Variants: 31 chr16:88872029:C:T 1641_670_224_Q->* 0.000199681 31 chr16:88870424:C:T 1641_185_62_A->V 0.00399361 31 chr16:88870972:C:T 1641_248_83_P->L 0.00139776 31 chr16:88871016:A:G 1641_292_98_I->V 0.00359425 31 chr16:88871222:C:T 1641_404_135_A->V 0.00579073 31 chr16:88871227:G:C 1641_409_137_V->L 0.000199681 31 chr16:88871240:A:G 1641_422_141_K->R 0.000199681 31 chr16:88871873:C:T 1641_514_172_R->C 0.00159744 31 chr16:88871904:C:T 1641_545_182_P->L 0.000199681 31 chr16:88871912:G:C 1641_553_185_V->L 0.000599042 31 chr16:88871940:C:T 1641_581_194_A->V 0.000399361 31 chr16:88871951:C:T 1641_592_198_R->C 0.000998403 31 chr16:88871972:G:A 1641_613_205_G->S 0.00139776 31 chr16:88871999:C:T 1641_640_214_P->S 0.000199681 31 chr16:88872002:A:T 1641_643_215_T->S 0.000199681 31 chr16:88872041:C:T 1641_682_228_R->C 0.000199681 31 chr16:88872145:T:C 1641_700_234_C->R 0.0002 31 chr16:88872146:G:A 1641_701_234_C->Y 0.000199681 31 chr16:88872203:G:A 1641_758_253_R->H 0.000798722 31 chr16:88872229:A:G 1641_784_262_T->A 0.428714 31 chr16:88872232:A:G 1641_787_263_R->G 0.000399361 31 chr16:88872242:A:C 1641_797_266_D->A 0.000199681 31 chr16:88872464:C:T 1641_868_290_R->C 0.000399361 31 chr16:88872465:G:A 1641_869_290_R->H 0.000199681 31 chr16:88872474:A:G 1641_878_293_Q->R 0.000199681 31 chr16:88872496:G:C 1641_900_300_Q->H 0.000998403 31 chr16:88872512:G:A 1641_916_306_V->I 0.000199681 31 chr16:88872894:G:A 1641_934_312_A->T 0.000199681 31 chr16:88872918:G:A 1641_958_320_A->T 0.000599042 31 chr16:88873502:C:T 1641_1166_389_P->L 0.000199681 31 chr16:88873513:G:A 1641_1177_393_G->R 0.000399361 31 chr16:88873704:G:A 1641_1291_431_A->T 0.000199681 31 chr16:88873714:A:C 1641_1301_434_Q->P 0.000399361 31 chr16:88873729:C:T 1641_1316_439_T->M 0.000199681 31 chr16:88873731:C:T 1641_1318_440_R->W 0.000199681 31 chr16:88873735:G:T 1641_1322_441_C->F 0.000199681 31 chr16:88873738:C:T 1641_1325_442_P->L 0.000599042 31 chr16:88873770:C:T 1641_1357_453_R->W 0.00119808 31 chr16:88873780:A:C 1641_1367_456_E->A 0.00798722 31 chr16:88873786:C:T 1641_1373_458_A->V 0.000199681 31 chr16:88873791:G:A 1641_1378_460_V->M 0.000199681 31 chr16:88873824:C:G 1641_1411_471_P->A 0.000998403 31 chr16:88873828:C:T 1641_1415_472_A->V 0.000199681 31 chr16:88873878:A:G 1641_1465_489_I->V 0.000199681 31 chr16:88873885:G:A 1641_1472_491_S->N 0.00579073 31 chr16:88874552:T:G 1641_1507_503_S->A 0.00119808 31 chr16:88874565:C:T 1641_1520_507_P->L 0.000199681 31 chr16:88874591:C:T 1641_1546_516_R->C 0.00179712 31 chr16:88874646:C:T 1641_1601_534_A->V 0.000199681 31 chr16:88874648:C:T 1641_1603_535_R->C 0.000199681 31 chr16:88874649:G:A 1641_1604_535_R->H 0.000599042 31 chr16:88874655:C:T 1641_1610_537_A->V 0.0235623 31 chr16:88874667:G:T 1641_1622_541_R->L 0.00139776 31 chr16:88874676:A:T 1641_1631_544_E->V 0.000399361 31 chr16:88874677:G:C 1641_1632_544_E->D 0.00119808 31 na12878 Variants: 31 chr16:88872145:T:C 1641_700_234_C->R 31 snyder Variants: 31 chr16:88872145:T:C 1641_700_234_C->R 31 chr16:88872229:A:G 1641_784_262_T->A 32 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141736_ENST00000541774 gene_Name: ERBB2_HUMAN 32 list of pdbs: 32 4GFU pdb_description: 07-Aug-13 X-ray 2.000 Ptpn18 in complex with her2-py1248 phosphor-peptides 32 3RCD pdb_description: 23-Nov-11 X-ray 3.210 Her2 kinase domain complexed with tak-285 32 3PP0 pdb_description: 30-Mar-11 X-ray 2.250 Crystal structure of the kinase domain of human her2 (erbb2) 32 3N85 pdb_description: 28-Jul-10 X-ray 3.200 Crystallographic trimer of her2 extracellular regions in com tryptophan-rich antibody fragment 32 3MZW pdb_description: 28-Jul-10 X-ray 2.900 Her2 extracelluar region with affinity matured 3-helix affib zher2:342 32 3H3B pdb_description: 28-Apr-10 X-ray 2.450 Crystal structure of the single-chain fv (scfv) fragment of erbb2 antibody cha21 in complex with residues 1-192 of erbb extracellular domain 32 3BE1 pdb_description: 18-Nov-08 X-ray 2.900 Dual specific bh1 fab in complex with the extracellular doma her2/erbb-2 32 2L4K pdb_description: 17-Nov-10 NMR 10 Water refined solution structure of the human grb7-sh2 domai complex with the 10 amino acid peptide py1139 32 2JWA pdb_description: 22-Jan-08 NMR 12 Erbb2 transmembrane segment dimer spatial structure 32 2A91 pdb_description: 26-Jul-05 X-ray 2.500 Crystal structure of erbb2 domains 1-3 32 1S78 pdb_description: 27-Apr-04 X-ray 3.250 Insights into erbb signaling from the structure of the erbb2 pertuzumab complex 32 1OVC pdb_description: 08-Apr-03 Theoret model Theoretical model of tyrosine kinase domain of receptor protein-tyrosine kinase erbb-2 precursor (c-erbb-2) 32 1N8Z pdb_description: 18-Feb-03 X-ray 2.520 Crystal structure of extracellular domain of human her2 comp herceptin fab 32 1MW4 pdb_description: 09-Sep-03 NMR 10 Solution structure of the human grb7-sh2 domain in complex w amino acid peptide py1139 32 1MFL pdb_description: 21-Jan-03 X-ray 1.880 The structure of erbin pdz domain bound to the carboxy- terminal tail of the erbb2 receptor 32 1MFG pdb_description: 21-Jan-03 X-ray 1.250 The structure of erbin pdz domain bound to the carboxy- terminal tail of the erbb2 receptor 32 2KS1 pdb_description: 09-Jun-10 NMR 12 Heterodimeric association of transmembrane domains of erbb1 receptors enabling kinase activation 32 1QR1 pdb_description: 01-Jan-00 X-ray 2.400 Poor binding of a her-2/neu epitope (gp2) to hla-a2.1 is due to a lack of interactions in the center of the peptide 32 Zimmer Variants: 32 chr17:37884037:C:G 3723_3463_1155_P->A 32 chr17:37855834:C:A 3723_22_8_P->T;HUB=PPI®GNEG=Yes;GENE=ERBB2;CANG=[DNA_repair][actionable][cancer];CDSS=3;DBRECUR=ERBB2 32 HGMD Variants: 32 chr17:37879588:A:G 3723_1918_640_I->V 32 chr17:37879604:G:A 3723_1934_645_G->D 32 chr17:37883770:G:A 3723_3337_1113_V->I 32 chr17:37884037:C:G 3723_3463_1155_P->A 32 oneKG Variants: 32 chr17:37855834:C:A 3723_22_8_P->T 0.0658946 32 chr17:37863251:G:A 3723_37_13_G->S 0.000199681 32 chr17:37863262:G:T 3723_48_16_M->I 0.000998403 32 chr17:37864584:A:C 3723_191_64_E->A 0.00419329 32 chr17:37864598:G:A 3723_205_69_V->M 0.000199681 32 chr17:37864731:C:G 3723_338_113_P->R 0.000199681 32 chr17:37864776:G:A 3723_383_128_R->Q 0.00159744 32 chr17:37864781:C:T 3723_388_130_L->F 0.000998403 32 chr17:37865700:G:A 3723_524_175_R->Q 0.000199681 32 chr17:37866081:C:T 3723_545_182_P->L 0.000199681 32 chr17:37866618:G:A 3723_740_247_G->D 0.000199681 32 chr17:37866641:G:T 3723_763_255_A->S 0.000399361 32 chr17:37866689:G:A 3723_811_271_E->K 0.000199681 32 chr17:37868271:G:A 3723_947_316_C->Y 0.000199681 32 chr17:37868298:G:A 3723_974_325_R->Q 0.000199681 32 chr17:37871547:C:A 3723_1112_371_A->D 0.00159744 32 chr17:37871743:A:G 3723_1222_408_S->G 0.000199681 32 chr17:37871746:G:A 3723_1225_409_V->I 0.000199681 32 chr17:37872035:G:T 3723_1311_437_W->C 0.0179712 32 chr17:37872088:A:G 3723_1364_455_H->R 0.000199681 32 chr17:37872115:C:T 3723_1391_464_T->M 0.000399361 32 chr17:37872126:G:A 3723_1402_468_D->N 0.000199681 32 chr17:37872145:C:T 3723_1421_474_P->L 0.000399361 32 chr17:37872175:G:A 3723_1451_484_R->Q 0.000199681 32 chr17:37872605:G:A 3723_1520_507_G->D 0.000199681 32 chr17:37872682:C:A 3723_1597_533_Q->K 0.000199681 32 chr17:37872685:G:T 3723_1600_534_G->W 0.000199681 32 chr17:37872806:C:T 3723_1640_547_P->L 0.000199681 32 chr17:37873733:C:T 3723_1853_618_S->F 0.000199681 32 chr17:37879585:A:G 3723_1915_639_I->V 0.00259585 32 chr17:37879588:A:G 3723_1918_640_I->V 0.121406 32 chr17:37881114:G:A 3723_2398_800_G->R 0.00319489 32 chr17:37881117:C:T 3723_2401_801_R->C 0.000199681 32 chr17:37883141:G:A 3723_2999_1000_G->E 0.000798722 32 chr17:37883174:C:A 3723_3032_1011_P->H 0.000399361 32 chr17:37883207:C:T 3723_3065_1022_P->L 0.000199681 32 chr17:37883212:G:A 3723_3070_1024_A->T 0.000998403 32 chr17:37883246:C:T 3723_3104_1035_S->L 0.000199681 32 chr17:37883554:G:A 3723_3121_1041_G->S 0.000199681 32 chr17:37883570:T:C 3723_3137_1046_L->P 0.000199681 32 chr17:37883606:C:G 3723_3173_1058_S->C 0.000199681 32 chr17:37883791:C:T 3723_3358_1120_P->S 0.000599042 32 chr17:37883959:G:C 3723_3385_1129_D->H 0.000998403 32 chr17:37883977:C:G 3723_3403_1135_P->A 0.000199681 32 chr17:37884011:G:A 3723_3437_1146_R->Q 0.00279553 32 chr17:37884037:C:G 3723_3463_1155_P->A 0.452077 32 chr17:37884176:C:A 3723_3602_1201_A->D 0.00139776 32 chr17:37884191:A:G 3723_3617_1206_Y->C 0.000199681 32 chr17:37884205:G:A 3723_3631_1211_D->N 0.000199681 32 chr17:37884259:G:A 3723_3685_1229_E->K 0.000199681 32 chr17:37884283:G:A 3723_3709_1237_D->N 0.000399361 32 chr17:37884286:G:A 3723_3712_1238_V->M 0.000199681 32 na12878 Variants: 32 chr17:37884037:C:G 3723_3463_1155_P->A 32 chr17:37855834:C:A 3723_22_8_P->T 32 snyder Variants: 32 chr17:37884037:C:G 3723_3463_1155_P->A 33 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141736_ENST00000269571 gene_Name: ERBB2_HUMAN 33 list of pdbs: 33 4GFU pdb_description: 07-Aug-13 X-ray 2.000 Ptpn18 in complex with her2-py1248 phosphor-peptides 33 3RCD pdb_description: 23-Nov-11 X-ray 3.210 Her2 kinase domain complexed with tak-285 33 3PP0 pdb_description: 30-Mar-11 X-ray 2.250 Crystal structure of the kinase domain of human her2 (erbb2) 33 3N85 pdb_description: 28-Jul-10 X-ray 3.200 Crystallographic trimer of her2 extracellular regions in com tryptophan-rich antibody fragment 33 3MZW pdb_description: 28-Jul-10 X-ray 2.900 Her2 extracelluar region with affinity matured 3-helix affib zher2:342 33 3H3B pdb_description: 28-Apr-10 X-ray 2.450 Crystal structure of the single-chain fv (scfv) fragment of erbb2 antibody cha21 in complex with residues 1-192 of erbb extracellular domain 33 3BE1 pdb_description: 18-Nov-08 X-ray 2.900 Dual specific bh1 fab in complex with the extracellular doma her2/erbb-2 33 2L4K pdb_description: 17-Nov-10 NMR 10 Water refined solution structure of the human grb7-sh2 domai complex with the 10 amino acid peptide py1139 33 2JWA pdb_description: 22-Jan-08 NMR 12 Erbb2 transmembrane segment dimer spatial structure 33 2A91 pdb_description: 26-Jul-05 X-ray 2.500 Crystal structure of erbb2 domains 1-3 33 1S78 pdb_description: 27-Apr-04 X-ray 3.250 Insights into erbb signaling from the structure of the erbb2 pertuzumab complex 33 1OVC pdb_description: 08-Apr-03 Theoret model Theoretical model of tyrosine kinase domain of receptor protein-tyrosine kinase erbb-2 precursor (c-erbb-2) 33 1N8Z pdb_description: 18-Feb-03 X-ray 2.520 Crystal structure of extracellular domain of human her2 comp herceptin fab 33 1MW4 pdb_description: 09-Sep-03 NMR 10 Solution structure of the human grb7-sh2 domain in complex w amino acid peptide py1139 33 1MFL pdb_description: 21-Jan-03 X-ray 1.880 The structure of erbin pdz domain bound to the carboxy- terminal tail of the erbb2 receptor 33 1MFG pdb_description: 21-Jan-03 X-ray 1.250 The structure of erbin pdz domain bound to the carboxy- terminal tail of the erbb2 receptor 33 2KS1 pdb_description: 09-Jun-10 NMR 12 Heterodimeric association of transmembrane domains of erbb1 receptors enabling kinase activation 33 1QR1 pdb_description: 01-Jan-00 X-ray 2.400 Poor binding of a her-2/neu epitope (gp2) to hla-a2.1 is due to a lack of interactions in the center of the peptide 33 Zimmer Variants: 33 chr17:37884037:C:G 3768_3508_1170_P->A 33 HGMD Variants: 33 chr17:37879588:A:G 3768_1963_655_I->V 33 chr17:37879604:G:A 3768_1979_660_G->D 33 chr17:37883770:G:A 3768_3382_1128_V->I 33 chr17:37884037:C:G 3768_3508_1170_P->A 33 oneKG Variants: 33 chr17:37856534:C:T 3768_43_15_L->F 0.000399361 33 chr17:37863251:G:A 3768_82_28_G->S 0.000199681 33 chr17:37863262:G:T 3768_93_31_M->I 0.000998403 33 chr17:37864584:A:C 3768_236_79_E->A 0.00419329 33 chr17:37864598:G:A 3768_250_84_V->M 0.000199681 33 chr17:37864731:C:G 3768_383_128_P->R 0.000199681 33 chr17:37864776:G:A 3768_428_143_R->Q 0.00159744 33 chr17:37864781:C:T 3768_433_145_L->F 0.000998403 33 chr17:37865700:G:A 3768_569_190_R->Q 0.000199681 33 chr17:37866081:C:T 3768_590_197_P->L 0.000199681 33 chr17:37866618:G:A 3768_785_262_G->D 0.000199681 33 chr17:37866641:G:T 3768_808_270_A->S 0.000399361 33 chr17:37866689:G:A 3768_856_286_E->K 0.000199681 33 chr17:37868271:G:A 3768_992_331_C->Y 0.000199681 33 chr17:37868298:G:A 3768_1019_340_R->Q 0.000199681 33 chr17:37871547:C:A 3768_1157_386_A->D 0.00159744 33 chr17:37871743:A:G 3768_1267_423_S->G 0.000199681 33 chr17:37871746:G:A 3768_1270_424_V->I 0.000199681 33 chr17:37872035:G:T 3768_1356_452_W->C 0.0179712 33 chr17:37872088:A:G 3768_1409_470_H->R 0.000199681 33 chr17:37872115:C:T 3768_1436_479_T->M 0.000399361 33 chr17:37872126:G:A 3768_1447_483_D->N 0.000199681 33 chr17:37872145:C:T 3768_1466_489_P->L 0.000399361 33 chr17:37872175:G:A 3768_1496_499_R->Q 0.000199681 33 chr17:37872605:G:A 3768_1565_522_G->D 0.000199681 33 chr17:37872682:C:A 3768_1642_548_Q->K 0.000199681 33 chr17:37872685:G:T 3768_1645_549_G->W 0.000199681 33 chr17:37872806:C:T 3768_1685_562_P->L 0.000199681 33 chr17:37873733:C:T 3768_1898_633_S->F 0.000199681 33 chr17:37879585:A:G 3768_1960_654_I->V 0.00259585 33 chr17:37879588:A:G 3768_1963_655_I->V 0.121406 33 chr17:37881114:G:A 3768_2443_815_G->R 0.00319489 33 chr17:37881117:C:T 3768_2446_816_R->C 0.000199681 33 chr17:37883141:G:A 3768_3044_1015_G->E 0.000798722 33 chr17:37883174:C:A 3768_3077_1026_P->H 0.000399361 33 chr17:37883207:C:T 3768_3110_1037_P->L 0.000199681 33 chr17:37883212:G:A 3768_3115_1039_A->T 0.000998403 33 chr17:37883246:C:T 3768_3149_1050_S->L 0.000199681 33 chr17:37883554:G:A 3768_3166_1056_G->S 0.000199681 33 chr17:37883570:T:C 3768_3182_1061_L->P 0.000199681 33 chr17:37883606:C:G 3768_3218_1073_S->C 0.000199681 33 chr17:37883791:C:T 3768_3403_1135_P->S 0.000599042 33 chr17:37883959:G:C 3768_3430_1144_D->H 0.000998403 33 chr17:37883977:C:G 3768_3448_1150_P->A 0.000199681 33 chr17:37884011:G:A 3768_3482_1161_R->Q 0.00279553 33 chr17:37884037:C:G 3768_3508_1170_P->A 0.452077 33 chr17:37884176:C:A 3768_3647_1216_A->D 0.00139776 33 chr17:37884191:A:G 3768_3662_1221_Y->C 0.000199681 33 chr17:37884205:G:A 3768_3676_1226_D->N 0.000199681 33 chr17:37884259:G:A 3768_3730_1244_E->K 0.000199681 33 chr17:37884283:G:A 3768_3754_1252_D->N 0.000399361 33 chr17:37884286:G:A 3768_3757_1253_V->M 0.000199681 33 na12878 Variants: 33 chr17:37884037:C:G 3768_3508_1170_P->A 33 snyder Variants: 33 chr17:37884037:C:G 3768_3508_1170_P->A 34 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000012048_ENST00000357654 gene_Name: BRCA1_HUMAN 34 list of pdbs: 34 3PXE pdb_description: 20-Apr-11 X-ray 2.850 Impact of brca1 brct domain missense substitutions on phosph recognition: e1836k 34 3PXD pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1835p 34 3PXC pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1699q 34 3PXB pdb_description: 20-Apr-11 X-ray 2.500 Impact of brca1 brct domain missense substitutions on phosph recognition: t1700a 34 3PXA pdb_description: 20-Apr-11 X-ray 2.550 Impact of brca1 brct domain missense substitutions on phosph recognition: g1656d 34 3K16 pdb_description: 02-Mar-10 X-ray 3.000 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with a free carboxy c-terminus 34 3K15 pdb_description: 02-Mar-10 X-ray 2.800 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with an amidated c-terminus 34 3K0K pdb_description: 02-Mar-10 X-ray 2.700 Crystal structure of brca1 brct in complex with a minimal re tetrapeptide with a free carboxy c-terminus. 34 3K0H pdb_description: 02-Mar-10 X-ray 2.700 The crystal structure of brca1 brct in complex with a minima recognition tetrapeptide with an amidated c-terminus 34 2ING pdb_description: 04-Sep-07 X-ray 3.600 X-ray structure of the brca1 brct mutant m1775k 34 1Y98 pdb_description: 30-Aug-05 X-ray 2.500 Structure of the brct repeats of brca1 bound to a ctip phosphopeptide. 34 1T2V pdb_description: 11-May-04 X-ray 3.300 Structural basis of phospho-peptide recognition by the brct brca1, structure with phosphopeptide 34 1T2U pdb_description: 11-May-04 X-ray 2.800 Structural basis of phosphopeptide recognition by the brct d brca1: structure of brca1 missense variant v1809f 34 1T29 pdb_description: 11-May-04 X-ray 2.300 Crystal structure of the brca1 brct repeats bound to a phosphorylated bach1 peptide 34 1T15 pdb_description: 11-May-04 X-ray 1.850 Crystal structure of the brca1 brct domains in complex with the phosphorylated interacting region from bach1 helicase 34 1OQA pdb_description: 15-Jun-04 NMR 15 Solution structure of the brct-c domain from human brca1 34 1N5O pdb_description: 25-Dec-02 X-ray 2.800 Structural consequences of a cancer-causing brca1-brct misse mutation 34 1JNX pdb_description: 21-Sep-01 X-ray 2.500 Crystal structure of the brct repeat region from the breast cancer associated protein, brca1 34 1JM7 pdb_description: 03-Oct-01 NMR 14 Solution structure of the brca1/bard1 ring-domain heterodimer 34 3COJ pdb_description: 27-May-08 X-ray 3.210 Crystal structure of the brct domains of human brca1 in comp phosphorylated peptide from human acetyl-coa carboxylase 1 34 Zimmer Variants: 34 chr17:41244936:G:A 5592_2612_871_P->L 34 chr17:41246481:T:C 5592_1067_356_Q->R 34 chr17:41223094:T:C 5592_4837_1613_S->G 34 chr17:41244000:T:C 5592_3548_1183_K->R 34 chr17:41244435:T:C 5592_3113_1038_E->G 34 chr17:41245471:C:T 5592_2077_693_D->N 34 HGMD Variants: 34 chr17:41197728:G:C 5592_5559_1853_Y->* 34 chr17:41197746:G:T 5592_5541_1847_C->* 34 chr17:41197751:G:A 5592_5536_1846_Q->* 34 chr17:41197776:C:T 5592_5511_1837_W->* 34 chr17:41197777:C:T 5592_5510_1837_W->* 34 chr17:41197781:C:A 5592_5506_1836_E->* 34 chr17:41197784:G:A 5592_5503_1835_R->* 34 chr17:41199678:C:A 5592_5449_1817_E->* 34 chr17:41199682:C:T 5592_5445_1815_W->* 34 chr17:41199683:C:T 5592_5444_1815_W->* 34 chr17:41199696:G:A 5592_5431_1811_Q->* 34 chr17:41201157:G:T 5592_5387_1796_S->* 34 chr17:41201167:T:A 5592_5377_1793_K->* 34 chr17:41201191:G:A 5592_5353_1785_Q->* 34 chr17:41201198:C:T 5592_5346_1782_W->* 34 chr17:41201199:C:T 5592_5345_1782_W->* 34 chr17:41201203:C:A 5592_5341_1781_E->* 34 chr17:41201209:G:A 5592_5335_1779_Q->* 34 chr17:41203105:A:T 5592_5307_1769_Y->* 34 chr17:41203119:C:A 5592_5293_1765_E->* 34 chr17:41209074:T:A 5592_5272_1758_R->* 34 chr17:41209080:G:A 5592_5266_1756_Q->* 34 chr17:41209086:C:A 5592_5260_1754_E->* 34 chr17:41209095:G:A 5592_5251_1751_R->* 34 chr17:41215364:T:A 5592_5179_1727_K->* 34 chr17:41215370:C:A 5592_5173_1725_E->* 34 chr17:41215382:G:A 5592_5161_1721_Q->* 34 chr17:41215389:C:T 5592_5154_1718_W->* 34 chr17:41215390:C:T 5592_5153_1718_W->* 34 chr17:41215895:A:C 5592_5148_1716_Y->* 34 chr17:41215907:C:T 5592_5136_1712_W->* 34 chr17:41215915:C:A 5592_5128_1710_G->* 34 chr17:41215934:A:C 5592_5109_1703_Y->* 34 chr17:41215939:T:A 5592_5104_1702_K->* 34 chr17:41215963:C:A 5592_5080_1694_E->* 34 chr17:41219631:T:A 5592_5068_1690_K->* 34 chr17:41219652:C:A 5592_5047_1683_E->* 34 chr17:41219700:T:A 5592_4999_1667_K->* 34 chr17:41219701:G:T 5592_4998_1666_Y->* 34 chr17:41222950:C:A 5592_4981_1661_E->* 34 chr17:41222989:T:A 5592_4942_1648_K->* 34 chr17:41223001:C:A 5592_4930_1644_E->* 34 chr17:41223028:C:A 5592_4903_1635_E->* 34 chr17:41223121:G:A 5592_4810_1604_Q->* 34 chr17:41223130:T:A 5592_4801_1601_K->* 34 chr17:41223144:G:T 5592_4787_1596_S->* 34 chr17:41223171:G:C 5592_4760_1587_S->* 34 chr17:41223190:C:A 5592_4741_1581_E->* 34 chr17:41223242:G:T 5592_4689_1563_Y->* 34 chr17:41223242:G:C 5592_4689_1563_Y->* 34 chr17:41223253:C:A 5592_4678_1560_G->* 34 chr17:41226367:G:C 5592_4656_1552_Y->* 34 chr17:41226402:C:A 5592_4621_1541_E->* 34 chr17:41226411:G:A 5592_4612_1538_Q->* 34 chr17:41226414:G:A 5592_4609_1537_Q->* 34 chr17:41226420:C:A 5592_4603_1535_E->* 34 chr17:41226450:G:A 5592_4573_1525_Q->* 34 chr17:41226457:G:T 5592_4566_1522_Y->* 34 chr17:41226471:G:A 5592_4552_1518_Q->* 34 chr17:41226499:C:T 5592_4524_1508_W->* 34 chr17:41226500:C:T 5592_4523_1508_W->* 34 chr17:41226515:G:T 5592_4508_1503_S->* 34 chr17:41226520:G:T 5592_4503_1501_C->* 34 chr17:41226536:G:C 5592_4487_1496_S->* 34 chr17:41228509:C:A 5592_4480_1494_E->* 34 chr17:41228590:G:A 5592_4399_1467_Q->* 34 chr17:41228600:G:T 5592_4389_1463_Y->* 34 chr17:41228614:T:A 5592_4375_1459_K->* 34 chr17:41228617:G:A 5592_4372_1458_Q->* 34 chr17:41234439:G:A 5592_4339_1447_Q->* 34 chr17:41234451:G:A 5592_4327_1443_R->* 34 chr17:41234491:G:T 5592_4287_1429_Y->* 34 chr17:41234520:G:A 5592_4258_1420_Q->* 34 chr17:41234525:A:C 5592_4253_1418_L->* 34 chr17:41234535:C:A 5592_4243_1415_E->* 34 chr17:41234541:C:A 5592_4237_1413_E->* 34 chr17:41234550:C:A 5592_4228_1410_E->* 34 chr17:41234556:G:A 5592_4222_1408_Q->* 34 chr17:41234577:G:A 5592_4201_1401_Q->* 34 chr17:41234592:G:A 5592_4186_1396_Q->* 34 chr17:41242963:G:A 5592_4183_1395_Q->* 34 chr17:41242998:G:C 5592_4148_1383_S->* 34 chr17:41243029:C:A 5592_4117_1373_E->* 34 chr17:41243030:A:T 5592_4116_1372_C->* 34 chr17:41243460:G:C 5592_4088_1363_S->* 34 chr17:41243473:G:A 5592_4075_1359_Q->* 34 chr17:41243491:C:A 5592_4057_1353_E->* 34 chr17:41243496:A:T 5592_4052_1351_L->* 34 chr17:41243557:G:A 5592_3991_1331_Q->* 34 chr17:41243569:G:A 5592_3979_1327_Q->* 34 chr17:41243581:G:A 5592_3967_1323_Q->* 34 chr17:41243611:G:A 5592_3937_1313_Q->* 34 chr17:41243644:C:A 5592_3904_1302_E->* 34 chr17:41243653:G:A 5592_3895_1299_Q->* 34 chr17:41243655:G:T 5592_3893_1298_S->* 34 chr17:41243680:T:A 5592_3868_1290_K->* 34 chr17:41243686:C:A 5592_3862_1288_E->* 34 chr17:41243707:G:A 5592_3841_1281_Q->* 34 chr17:41243731:G:A 5592_3817_1273_Q->* 34 chr17:41243763:G:T 5592_3785_1262_S->* 34 chr17:41243766:A:C 5592_3782_1261_L->* 34 chr17:41243776:C:A 5592_3772_1258_E->* 34 chr17:41243795:A:T 5592_3753_1251_C->* 34 chr17:41243800:C:A 5592_3748_1250_E->* 34 chr17:41243830:G:A 5592_3718_1240_Q->* 34 chr17:41243859:A:C 5592_3689_1230_L->* 34 chr17:41243884:C:A 5592_3664_1222_E->* 34 chr17:41243887:C:A 5592_3661_1221_E->* 34 chr17:41243901:A:C 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5592_2155_719_K->E 0.000199681 34 chr17:41245408:T:C 5592_2140_714_N->D 0.000199681 34 chr17:41245471:C:T 5592_2077_693_D->N 0.0335463 34 chr17:41245474:G:A 5592_2074_692_H->Y 0.000199681 34 chr17:41245488:T:G 5592_2060_687_Q->P 0.000199681 34 chr17:41245542:A:G 5592_2006_669_M->T 0.000199681 34 chr17:41245543:T:C 5592_2005_669_M->V 0.000399361 34 chr17:41245729:T:C 5592_1819_607_K->E 0.000199681 34 chr17:41245762:G:A 5592_1786_596_L->F 0.000399361 34 chr17:41245835:T:C 5592_1713_571_I->M 0.000199681 34 chr17:41245836:A:G 5592_1712_571_I->T 0.000199681 34 chr17:41245900:T:G 5592_1648_550_N->H 0.000199681 34 chr17:41245932:G:A 5592_1616_539_T->M 0.000199681 34 chr17:41246037:C:T 5592_1511_504_R->H 0.000199681 34 chr17:41246038:G:A 5592_1510_504_R->C 0.000199681 34 chr17:41246089:C:A 5592_1459_487_V->F 0.000199681 34 chr17:41246092:A:G 5592_1456_486_F->L 0.000199681 34 chr17:41246121:T:C 5592_1427_476_H->R 0.000599042 34 chr17:41246151:C:T 5592_1397_466_R->Q 0.000199681 34 chr17:41246315:A:C 5592_1233_411_D->E 0.000199681 34 chr17:41246377:C:G 5592_1171_391_E->Q 0.000199681 34 chr17:41246411:A:C 5592_1137_379_I->M 0.00259585 34 chr17:41246481:T:C 5592_1067_356_Q->R 0.0217652 34 chr17:41246553:C:T 5592_995_332_R->Q 0.000199681 34 chr17:41246625:C:G 5592_923_308_S->T 0.000199681 34 chr17:41246725:C:T 5592_823_275_G->S 0.000399361 34 chr17:41246737:C:T 5592_811_271_V->M 0.000199681 34 chr17:41246812:A:C 5592_736_246_L->V 0.000199681 34 chr17:41246815:C:A 5592_733_245_D->Y 0.000199681 34 chr17:41246865:A:T 5592_683_228_F->Y 0.000199681 34 chr17:41247907:G:A 5592_626_209_P->L 0.000199681 34 chr17:41249283:C:T 5592_571_191_V->I 0.00219649 34 chr17:41249297:G:T 5592_557_186_S->Y 0.00299521 34 chr17:41251803:T:C 5592_536_179_Y->C 0.000199681 34 chr17:41258486:C:A 5592_199_67_D->Y 0.000199681 34 chr17:41258509:G:A 5592_176_59_S->L 0.000199681 34 chr17:41267770:G:T 5592_107_36_S->Y 0.000199681 34 chr17:41276092:C:T 5592_22_8_V->I 0.000199681 34 na12878 Variants: 34 chr17:41244936:G:A 5592_2612_871_P->L 34 chr17:41223094:T:C 5592_4837_1613_S->G 34 chr17:41244000:T:C 5592_3548_1183_K->R 34 chr17:41244435:T:C 5592_3113_1038_E->G 34 snyder Variants: 34 chr17:41244936:G:A 5592_2612_871_P->L 34 chr17:41223094:T:C 5592_4837_1613_S->G 34 chr17:41244000:T:C 5592_3548_1183_K->R 34 chr17:41244435:T:C 5592_3113_1038_E->G 35 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108821_ENST00000225964 gene_Name: CO1A1_HUMAN 35 list of pdbs: 35 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 35 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 35 2LLP pdb_description: 30-May-12 NMR 30 Solution structure of a thp type 1 alpha 1 collagen fragment 35 1Q7D pdb_description: 13-Jan-04 X-ray 1.800 Structure of the integrin alpha2beta1 binding collagen peptide 35 Zimmer Variants: 35 chr17:48265495:T:C 4395_3223_1075_T->A;HUB=PPI;GNEG=Yes;GENE=COL1A1;CANG=[cancer];CDSS=4 35 HGMD Variants: 35 chr17:48262993:C:T 4395_4265_1422_W->* 35 chr17:48263366:G:A 4395_4021_1341_Q->* 35 chr17:48263378:C:A 4395_4009_1337_E->* 35 chr17:48263708:C:T 4395_3975_1325_W->* 35 chr17:48263709:C:T 4395_3974_1325_W->* 35 chr17:48263748:C:T 4395_3935_1312_W->* 35 chr17:48263758:G:A 4395_3925_1309_Q->* 35 chr17:48263773:G:A 4395_3910_1304_Q->* 35 chr17:48263786:G:T 4395_3897_1299_C->* 35 chr17:48263845:G:A 4395_3838_1280_Q->* 35 chr17:48263859:C:T 4395_3824_1275_W->* 35 chr17:48264008:C:T 4395_3807_1269_W->* 35 chr17:48264009:C:T 4395_3806_1269_W->* 35 chr17:48264208:G:A 4395_3607_1203_Q->* 35 chr17:48264847:G:A 4395_3421_1141_R->* 35 chr17:48264883:G:A 4395_3385_1129_Q->* 35 chr17:48265257:G:A 4395_3349_1117_Q->* 35 chr17:48266126:G:A 4395_3076_1026_R->* 35 chr17:48266597:G:A 4395_2869_957_Q->* 35 chr17:48267063:G:A 4395_2644_882_R->* 35 chr17:48267457:G:A 4395_2464_822_Q->* 35 chr17:48269187:G:A 4395_2089_697_R->* 35 chr17:48269244:C:A 4395_2032_678_E->* 35 chr17:48269838:G:A 4395_1981_661_Q->* 35 chr17:48270384:G:A 4395_1792_598_R->* 35 chr17:48272129:G:A 4395_1414_472_R->* 35 chr17:48272138:G:A 4395_1405_469_R->* 35 chr17:48272649:G:A 4395_1243_415_R->* 35 chr17:48272984:G:A 4395_1099_367_Q->* 35 chr17:48273002:G:A 4395_1081_361_R->* 35 chr17:48273551:C:A 4395_967_323_G->* 35 chr17:48274418:G:A 4395_757_253_R->* 35 chr17:48275131:G:A 4395_658_220_R->* 35 chr17:48276616:C:A 4395_442_148_G->* 35 chr17:48262867:A:G 4395_4391_1464_L->P 35 chr17:48262871:A:G 4395_4387_1463_F->L 35 chr17:48262895:C:T 4395_4363_1455_G->S 35 chr17:48262915:C:A 4395_4343_1448_G->V 35 chr17:48262915:C:T 4395_4343_1448_G->D 35 chr17:48262937:C:A 4395_4321_1441_D->Y 35 chr17:48262937:C:G 4395_4321_1441_D->H 35 chr17:48262942:A:G 4395_4316_1439_I->T 35 chr17:48262948:A:T 4395_4310_1437_L->Q 35 chr17:48262966:G:A 4395_4292_1431_T->I 35 chr17:48263150:C:T 4395_4237_1413_D->N 35 chr17:48263158:A:T 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chr17:48271727:C:A 4395_1597_533_G->C 35 chr17:48271736:C:A 4395_1588_530_G->C 35 chr17:48271736:C:T 4395_1588_530_G->S 35 chr17:48271744:C:G 4395_1580_527_G->A 35 chr17:48271745:C:A 4395_1579_527_G->C 35 chr17:48271798:C:A 4395_1526_509_G->V 35 chr17:48271942:C:A 4395_1507_503_G->C 35 chr17:48271978:C:A 4395_1471_491_G->C 35 chr17:48271978:C:T 4395_1471_491_G->S 35 chr17:48272098:C:G 4395_1445_482_G->A 35 chr17:48272099:C:T 4395_1444_482_G->R 35 chr17:48272117:C:T 4395_1426_476_G->R 35 chr17:48272117:C:G 4395_1426_476_G->R 35 chr17:48272134:C:A 4395_1409_470_G->V 35 chr17:48272134:C:G 4395_1409_470_G->A 35 chr17:48272152:C:T 4395_1391_464_G->E 35 chr17:48272153:C:T 4395_1390_464_G->R 35 chr17:48272162:C:T 4395_1381_461_G->S 35 chr17:48272179:C:T 4395_1364_455_G->D 35 chr17:48272180:C:A 4395_1363_455_G->C 35 chr17:48272451:C:T 4395_1310_437_G->D 35 chr17:48272460:C:A 4395_1301_434_G->V 35 chr17:48272600:C:A 4395_1292_431_G->V 35 chr17:48272610:C:A 4395_1282_428_G->C 35 chr17:48272619:C:T 4395_1273_425_G->S 35 chr17:48272627:C:G 4395_1265_422_G->A 35 chr17:48272628:C:A 4395_1264_422_G->C 35 chr17:48272643:G:C 4395_1249_417_P->A 35 chr17:48272654:C:G 4395_1238_413_G->A 35 chr17:48272664:C:T 4395_1228_410_G->S 35 chr17:48272673:C:T 4395_1219_407_G->S 35 chr17:48272673:C:A 4395_1219_407_G->C 35 chr17:48272682:C:A 4395_1210_404_G->C 35 chr17:48272682:C:T 4395_1210_404_G->S 35 chr17:48272690:C:T 4395_1202_401_G->D 35 chr17:48272691:C:A 4395_1201_401_G->C 35 chr17:48272802:C:G 4395_1193_398_G->A 35 chr17:48272802:C:T 4395_1193_398_G->D 35 chr17:48272803:C:A 4395_1192_398_G->C 35 chr17:48272812:C:T 4395_1183_395_G->S 35 chr17:48272820:C:T 4395_1175_392_G->E 35 chr17:48272827:C:T 4395_1168_390_A->T 35 chr17:48272830:C:A 4395_1165_389_G->C 35 chr17:48272830:C:T 4395_1165_389_G->S 35 chr17:48272830:C:G 4395_1165_389_G->R 35 chr17:48272936:C:A 4395_1147_383_G->C 35 chr17:48272936:C:T 4395_1147_383_G->S 35 chr17:48272944:C:A 4395_1139_380_G->V 35 chr17:48272945:C:T 4395_1138_380_G->S 35 chr17:48272945:C:A 4395_1138_380_G->C 35 chr17:48272953:C:G 4395_1130_377_G->A 35 chr17:48272972:C:T 4395_1111_371_G->S 35 chr17:48272980:C:A 4395_1103_368_G->V 35 chr17:48272981:C:T 4395_1102_368_G->S 35 chr17:48272989:C:A 4395_1094_365_G->V 35 chr17:48272989:C:G 4395_1094_365_G->A 35 chr17:48273017:C:A 4395_1066_356_G->C 35 chr17:48273025:C:T 4395_1058_353_G->D 35 chr17:48273026:C:A 4395_1057_353_G->C 35 chr17:48273026:C:T 4395_1057_353_G->S 35 chr17:48273292:C:G 4395_1048_350_G->R 35 chr17:48273295:C:A 4395_1045_349_V->F 35 chr17:48273328:C:T 4395_1012_338_G->S 35 chr17:48273328:C:A 4395_1012_338_G->C 35 chr17:48273523:C:G 4395_995_332_G->A 35 chr17:48273524:C:T 4395_994_332_G->R 35 chr17:48273541:C:T 4395_977_326_G->D 35 chr17:48273550:C:T 4395_968_323_G->E 35 chr17:48273551:C:T 4395_967_323_G->R 35 chr17:48273559:C:A 4395_959_320_G->V 35 chr17:48273692:C:T 4395_940_314_G->R 35 chr17:48273698:G:A 4395_934_312_R->C 35 chr17:48273700:C:T 4395_932_311_G->D 35 chr17:48273701:C:G 4395_931_311_G->R 35 chr17:48273719:C:T 4395_913_305_G->S 35 chr17:48273719:C:G 4395_913_305_G->R 35 chr17:48273852:C:T 4395_896_299_G->D 35 chr17:48273853:C:T 4395_895_299_G->S 35 chr17:48273885:T:G 4395_863_288_E->A 35 chr17:48273886:C:T 4395_862_288_E->K 35 chr17:48273889:C:T 4395_859_287_G->S 35 chr17:48273985:C:G 4395_851_284_G->A 35 chr17:48273986:C:T 4395_850_284_G->S 35 chr17:48273994:C:T 4395_842_281_G->D 35 chr17:48273995:C:T 4395_841_281_G->S 35 chr17:48274012:C:T 4395_824_275_G->D 35 chr17:48274013:C:G 4395_823_275_G->R 35 chr17:48274022:C:A 4395_814_272_G->C 35 chr17:48274030:C:A 4395_806_269_G->V 35 chr17:48274031:C:T 4395_805_269_G->S 35 chr17:48274378:C:T 4395_797_266_G->E 35 chr17:48274387:C:A 4395_788_263_G->V 35 chr17:48274388:C:T 4395_787_263_G->R 35 chr17:48274406:C:T 4395_769_257_G->R 35 chr17:48274414:C:T 4395_761_254_G->E 35 chr17:48274415:C:T 4395_760_254_G->R 35 chr17:48274424:C:A 4395_751_251_G->C 35 chr17:48274424:C:G 4395_751_251_G->R 35 chr17:48274549:C:T 4395_742_248_G->R 35 chr17:48274566:C:T 4395_725_242_G->D 35 chr17:48274575:C:T 4395_716_239_G->D 35 chr17:48275119:C:A 4395_670_224_G->C 35 chr17:48275119:C:T 4395_670_224_G->S 35 chr17:48275128:C:A 4395_661_221_G->C 35 chr17:48275146:C:G 4395_643_215_G->R 35 chr17:48275317:C:T 4395_635_212_G->E 35 chr17:48275318:C:T 4395_634_212_G->R 35 chr17:48275326:C:T 4395_626_209_G->D 35 chr17:48275339:G:C 4395_613_205_P->A 35 chr17:48275344:C:A 4395_608_203_G->V 35 chr17:48275345:C:A 4395_607_203_G->C 35 chr17:48275345:C:G 4395_607_203_G->R 35 chr17:48275345:C:T 4395_607_203_G->S 35 chr17:48275353:C:A 4395_599_200_G->V 35 chr17:48275362:C:T 4395_590_197_G->D 35 chr17:48275363:C:T 4395_589_197_G->S 35 chr17:48275363:C:A 4395_589_197_G->C 35 chr17:48275363:C:G 4395_589_197_G->R 35 chr17:48275529:C:G 4395_581_194_G->A 35 chr17:48275530:C:G 4395_580_194_G->R 35 chr17:48275538:C:G 4395_572_191_G->A 35 chr17:48275538:C:T 4395_572_191_G->D 35 chr17:48275547:C:T 4395_563_188_G->D 35 chr17:48275794:C:T 4395_543_181_M->I 35 chr17:48276622:G:T 4395_436_146_P->T 35 chr17:48277230:C:A 4395_182_61_C->F 35 chr17:48278798:C:T 4395_77_26_G->D 35 chr17:48278811:C:G 4395_64_22_G->R 35 chr17:48278873:A:G 4395_2_1_M->T 35 chr17:48278873:A:C 4395_2_1_M->R 35 oneKG Variants: 35 chr17:48262871:A:G 4395_4387_1463_F->L 0.000998403 35 chr17:48262886:C:T 4395_4372_1458_V->I 0.000199681 35 chr17:48263206:T:C 4395_4181_1394_N->S 0.000599042 35 chr17:48263348:C:T 4395_4039_1347_D->N 0.000399361 35 chr17:48263357:C:T 4395_4030_1344_D->N 0.000399361 35 chr17:48263369:C:T 4395_4018_1340_G->S 0.000399361 35 chr17:48263695:T:C 4395_3988_1330_M->V 0.000199681 35 chr17:48263701:C:T 4395_3982_1328_E->K 0.000199681 35 chr17:48263718:C:T 4395_3965_1322_R->K 0.000599042 35 chr17:48263769:G:A 4395_3914_1305_P->L 0.000199681 35 chr17:48263785:C:T 4395_3898_1300_V->M 0.000199681 35 chr17:48263834:G:T 4395_3849_1283_N->K 0.000599042 35 chr17:48264006:T:G 4395_3809_1270_K->T 0.000199681 35 chr17:48264049:C:T 4395_3766_1256_A->T 0.000998403 35 chr17:48264078:C:T 4395_3737_1246_R->Q 0.000199681 35 chr17:48264082:T:A 4395_3733_1245_I->F 0.000199681 35 chr17:48264135:C:T 4395_3680_1227_R->H 0.000199681 35 chr17:48264162:G:T 4395_3653_1218_A->D 0.0 35 chr17:48264244:G:C 4395_3571_1191_P->A 0.000399361 35 chr17:48264846:C:T 4395_3422_1141_R->Q 0.000199681 35 chr17:48265495:T:C 4395_3223_1075_T->A 0.021166 35 chr17:48265929:C:T 4395_3169_1057_V->I 0.000199681 35 chr17:48265959:C:G 4395_3139_1047_A->P 0.000399361 35 chr17:48265968:G:A 4395_3130_1044_P->S 0.000199681 35 chr17:48265991:C:T 4395_3107_1036_R->H 0.000199681 35 chr17:48266141:C:G 4395_3061_1021_E->Q 0.000199681 35 chr17:48266328:C:T 4395_2981_994_R->H 0.000199681 35 chr17:48266797:G:A 4395_2770_924_P->S 0.000399361 35 chr17:48266814:C:T 4395_2753_918_R->H 0.000199681 35 chr17:48266851:C:T 4395_2716_906_G->S 0.000399361 35 chr17:48266893:C:G 4395_2674_892_A->P 0.000199681 35 chr17:48267439:C:T 4395_2482_828_E->K 0.000199681 35 chr17:48267734:C:T 4395_2405_802_R->H 0.000199681 35 chr17:48268811:G:A 4395_2168_723_A->V 0.000798722 35 chr17:48268812:C:T 4395_2167_723_A->T 0.000798722 35 chr17:48269217:C:T 4395_2059_687_V->M 0.000199681 35 chr17:48269222:C:T 4395_2054_685_R->H 0.000399361 35 chr17:48269364:C:T 4395_2005_669_A->T 0.000599042 35 chr17:48270048:C:T 4395_1882_628_A->T 0.000399361 35 chr17:48270160:C:T 4395_1873_625_A->T 0.00219649 35 chr17:48270195:T:C 4395_1838_613_D->G 0.000199681 35 chr17:48271396:C:T 4395_1675_559_A->T 0.000199681 35 chr17:48271522:C:A 4395_1637_546_S->I 0.000199681 35 chr17:48271741:C:T 4395_1583_528_R->H 0.000199681 35 chr17:48272634:G:A 4395_1258_420_P->S 0.000199681 35 chr17:48272640:A:T 4395_1252_418_S->T 0.000199681 35 chr17:48272643:G:C 4395_1249_417_P->A 0.000199681 35 chr17:48272827:C:T 4395_1168_390_A->T 0.00239617 35 chr17:48272930:C:T 4395_1153_385_A->T 0.000199681 35 chr17:48272960:G:C 4395_1123_375_P->A 0.000199681 35 chr17:48273886:C:T 4395_862_288_E->K 0.000199681 35 chr17:48274400:C:T 4395_775_259_A->T 0.000199681 35 chr17:48274420:G:A 4395_755_252_A->V 0.000199681 35 chr17:48275130:C:T 4395_659_220_R->Q 0.000199681 35 chr17:48275339:G:C 4395_613_205_P->A 0.00179712 35 chr17:48275526:G:A 4395_584_195_A->V 0.000199681 35 chr17:48275808:C:T 4395_529_177_V->M 0.000199681 35 chr17:48275820:C:T 4395_517_173_G->R 0.000199681 35 chr17:48276631:G:A 4395_427_143_P->S 0.000399361 35 chr17:48277234:T:A 4395_178_60_I->F 0.000199681 35 chr17:48277259:G:C 4395_153_51_D->E 0.000199681 35 chr17:48277279:G:C 4395_133_45_L->V 0.000199681 35 chr17:48278804:T:C 4395_71_24_E->G 0.000199681 35 na12878 Variants: 35 chr17:48265495:T:C 4395_3223_1075_T->A 35 snyder Variants: 35 chr17:48263206:T:C 4395_4181_1394_N->S 35 chr17:48265495:T:C 4395_3223_1075_T->A 36 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154229_ENST00000413366 gene_Name: KPCA_HUMAN 36 list of pdbs: 36 4DNL pdb_description: 22-Feb-12 X-ray 1.900 Crystal structure of a c2 domain of a protein kinasE C alpha from homo sapiens at 1.90 a resolution 36 3IW4 pdb_description: 03-Nov-09 X-ray 2.800 Crystal structure of pkc alpha in complex with nvp-aeb071 36 2ELI pdb_description: 01-Apr-08 NMR 20 Solution structure of the second phorbol esters/diacylglycerol binding domain of human protein kinasE C alpha type 36 Zimmer Variants: 36 chr17:64783081:G:A 2019_1702_568_V->I;HUB=PHOS&PPI;GNEG=Yes;GENE=PRKCA;CDSS=4 36 HGMD Variants: 36 chr17:64728917:G:T 2019_1030_344_V->L 36 oneKG Variants: 36 chr17:64800030:C:T 2019_1894_632_R->* 0.000199681 36 chr17:64298992:A:G 2019_23_8_N->S 0.000199681 36 chr17:64299103:A:G 2019_134_45_K->R 0.000399361 36 chr17:64637549:T:A 2019_365_122_L->H 0.000199681 36 chr17:64683346:G:A 2019_647_216_R->H 0.000199681 36 chr17:64728897:C:T 2019_1010_337_T->M 0.000199681 36 chr17:64731619:G:A 2019_1069_357_D->N 0.000199681 36 chr17:64731716:G:A 2019_1166_389_R->Q 0.000199681 36 chr17:64734928:T:C 2019_1277_426_M->T 0.000199681 36 chr17:64734929:G:T 2019_1278_426_M->I 0.000199681 36 chr17:64738819:A:G 2019_1465_489_M->V 0.000199681 36 chr17:64783081:G:A 2019_1702_568_V->I 0.007987 36 chr17:64785001:G:C 2019_1758_586_E->D 0.000199681 36 chr17:64800042:G:A 2019_1906_636_V->I 0.00219649 36 chr17:64800145:G:A 2019_2009_670_S->N 0.000199681 36 na12878 Variants: 36 chr17:64783081:G:A 2019_1702_568_V->I 36 snyder Variants: 36 chr17:64783081:G:A 2019_1702_568_V->I 37 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000172466_ENST00000261332 gene_Name: ZNF24_HUMAN 37 list of pdbs: 37 3LHR pdb_description: 12-May-10 X-ray 1.900 Crystal structure of the scan domain from human znf24 37 1X6E pdb_description: 17-Nov-05 NMR 20 Solution structures of the c2h2 type zinc finger domain of human zinc finger protein 24 37 Zimmer Variants: 37 chr18:32917644:T:C 1107_659_220_N->S 37 HGMD Variants: 37 chr18:32917644:T:C 1107_659_220_N->S 37 oneKG Variants: 37 chr18:32917570:G:A 1107_733_245_P->S 0.000399361 37 chr18:32917621:T:C 1107_682_228_K->E 0.000199681 37 chr18:32917644:T:C 1107_659_220_N->S 0.269369 37 chr18:32917645:T:G 1107_658_220_N->H 0.000199681 37 chr18:32917660:C:T 1107_643_215_V->I 0.000199681 37 chr18:32917672:C:T 1107_631_211_E->K 0.000199681 37 chr18:32919882:T:G 1107_479_160_E->A 0.000399361 37 chr18:32919934:G:A 1107_427_143_L->F 0.00179712 37 chr18:32920287:T:C 1107_328_110_T->A 0.000399361 37 chr18:32920361:G:A 1107_254_85_T->M 0.00239617 37 chr18:32920362:T:C 1107_253_85_T->A 0.00139776 37 chr18:32920468:C:A 1107_147_49_E->D 0.000199681 37 chr18:32920505:C:T 1107_110_37_G->E 0.000199681 37 chr18:32920535:T:G 1107_80_27_K->T 0.000199681 37 na12878 Variants: 37 chr18:32917644:T:C 1107_659_220_N->S 37 snyder Variants: 37 chr18:32917644:T:C 1107_659_220_N->S 38 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000172466_ENST00000399061 gene_Name: ZNF24_HUMAN 38 list of pdbs: 38 3LHR pdb_description: 12-May-10 X-ray 1.900 Crystal structure of the scan domain from human znf24 38 1X6E pdb_description: 17-Nov-05 NMR 20 Solution structures of the c2h2 type zinc finger domain of human zinc finger protein 24 38 Zimmer Variants: 38 chr18:32917644:T:C 1107_659_220_N->S;HUB=PPI;GNEG=Yes;GENE=ZNF24;CDSS=4 38 HGMD Variants: 38 chr18:32917644:T:C 1107_659_220_N->S 38 oneKG Variants: 38 chr18:32917570:G:A 1107_733_245_P->S 0.000399361 38 chr18:32917621:T:C 1107_682_228_K->E 0.000199681 38 chr18:32917644:T:C 1107_659_220_N->S 0.269369 38 chr18:32917645:T:G 1107_658_220_N->H 0.000199681 38 chr18:32917660:C:T 1107_643_215_V->I 0.000199681 38 chr18:32917672:C:T 1107_631_211_E->K 0.000199681 38 chr18:32919882:T:G 1107_479_160_E->A 0.000399361 38 chr18:32919934:G:A 1107_427_143_L->F 0.00179712 38 chr18:32920287:T:C 1107_328_110_T->A 0.000399361 38 chr18:32920361:G:A 1107_254_85_T->M 0.00239617 38 chr18:32920362:T:C 1107_253_85_T->A 0.00139776 38 chr18:32920468:C:A 1107_147_49_E->D 0.000199681 38 chr18:32920505:C:T 1107_110_37_G->E 0.000199681 38 chr18:32920535:T:G 1107_80_27_K->T 0.000199681 38 na12878 Variants: 38 chr18:32917644:T:C 1107_659_220_N->S 38 snyder Variants: 38 chr18:32917644:T:C 1107_659_220_N->S 39 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000073050_ENST00000262887 gene_Name: XRCC1_HUMAN 39 list of pdbs: 39 3LQC pdb_description: 28-Apr-10 X-ray 2.350 X-ray crystal structure of oxidized xrcc1 bound to DNA pol b thumb domain 39 3K77 pdb_description: 28-Apr-10 X-ray 2.600 X-ray crystal structure of xrcc1 39 3K75 pdb_description: 28-Apr-10 X-ray 2.950 X-ray crystal structure of reduced xrcc1 bound to DNA pol be catalytic domain 39 2D8M pdb_description: 06-Jun-06 NMR 20 Solution structure of the first brct domain of DNA-repair protein xrcc1 39 1XNT pdb_description: 01-Sep-99 NMR 23 Nmr solution structure of the single-strand break repair protein xrcc1-n-terminal domain 39 1XNA pdb_description: 01-Sep-99 NMR 1 Nmr solution structure of the single-strand break repair protein xrcc1-n-terminal domain 39 1CDZ pdb_description: 28-Feb-00 X-ray 3.200 Brct domain from DNA-repair protein xrcc1 39 2W3O pdb_description: 03-Feb-09 X-ray 1.850 Crystal structure of the human pnkp fha domain in complex with an xrcc1-derived phosphopeptide 39 Zimmer Variants: 39 chr19:44047826:T:A 1902_1726_576_N->Y 39 chr19:44055726:T:C 1902_1196_399_Q->R 39 HGMD Variants: 39 chr19:44047826:T:A 1902_1726_576_N->Y 39 chr19:44055726:T:C 1902_1196_399_Q->R 39 chr19:44056412:C:T 1902_839_280_R->H 39 chr19:44057574:G:A 1902_580_194_R->W 39 chr19:44065102:A:G 1902_215_72_V->A 39 oneKG Variants: 39 chr19:44055727:G:A 1902_1195_399_Q->* 0.000199681 39 chr19:44055768:C:T 1902_1154_385_W->* 0.000199681 39 chr19:44056329:G:A 1902_922_308_R->* 0.000199681 39 chr19:44047554:G:A 1902_1892_631_P->L 0.000599042 39 chr19:44047624:G:A 1902_1822_608_R->C 0.000199681 39 chr19:44047638:G:A 1902_1808_603_S->F 0.000199681 39 chr19:44047773:G:C 1902_1779_593_S->R 0.000199681 39 chr19:44047825:T:G 1902_1727_576_N->T 0.0213658 39 chr19:44047826:T:A 1902_1726_576_N->Y 0.0 39 chr19:44048333:G:A 1902_1675_559_R->W 0.000199681 39 chr19:44049999:G:A 1902_1592_531_P->L 0.000199681 39 chr19:44050050:G:A 1902_1541_514_P->L 0.000199681 39 chr19:44050214:C:T 1902_1471_491_E->K 0.000199681 39 chr19:44050231:G:T 1902_1454_485_S->Y 0.000199681 39 chr19:44050770:A:G 1902_1403_468_I->T 0.000798722 39 chr19:44050795:C:G 1902_1378_460_A->P 0.000599042 39 chr19:44050812:G:A 1902_1361_454_P->L 0.000199681 39 chr19:44055726:T:C 1902_1196_399_Q->R 0.260383 39 chr19:44055744:C:T 1902_1178_393_R->H 0.000199681 39 chr19:44055786:C:T 1902_1136_379_R->H 0.000199681 39 chr19:44056187:C:T 1902_1064_355_R->Q 0.000199681 39 chr19:44056202:C:T 1902_1049_350_R->Q 0.000199681 39 chr19:44056235:C:T 1902_1016_339_R->Q 0.000199681 39 chr19:44056326:G:A 1902_925_309_P->S 0.000399361 39 chr19:44056341:T:C 1902_910_304_T->A 0.029353 39 chr19:44056352:C:T 1902_899_300_R->Q 0.00199681 39 chr19:44056357:T:G 1902_894_298_K->N 0.000199681 39 chr19:44056400:G:A 1902_851_284_T->I 0.000798722 39 chr19:44056412:C:T 1902_839_280_R->H 0.0670927 39 chr19:44056954:G:A 1902_818_273_P->L 0.000199681 39 chr19:44056981:T:G 1902_791_264_Q->P 0.000199681 39 chr19:44057178:A:C 1902_667_223_S->A 0.000399361 39 chr19:44057574:G:A 1902_580_194_R->W 0.123802 39 chr19:44057606:T:C 1902_548_183_N->S 0.000199681 39 chr19:44057610:C:T 1902_544_182_A->T 0.000199681 39 chr19:44057768:G:A 1902_482_161_P->L 0.00539137 39 chr19:44057798:C:T 1902_452_151_S->N 0.000199681 39 chr19:44057823:C:T 1902_427_143_G->S 0.000199681 39 chr19:44058833:G:A 1902_379_127_R->W 0.000199681 39 chr19:44058841:C:A 1902_371_124_R->L 0.000399361 39 chr19:44058851:C:T 1902_361_121_A->T 0.000798722 39 chr19:44058860:G:A 1902_352_118_R->W 0.000199681 39 chr19:44058892:C:T 1902_320_107_R->H 0.000798722 39 chr19:44058913:C:T 1902_299_100_R->H 0.000199681 39 chr19:44058943:G:A 1902_269_90_T->I 0.000199681 39 chr19:44065100:C:A 1902_217_73_G->C 0.000199681 39 chr19:44065102:A:G 1902_215_72_V->A 0.0133786 39 chr19:44065115:C:T 1902_202_68_V->M 0.000199681 39 chr19:44079076:A:T 1902_130_44_S->T 0.000199681 39 chr19:44079106:G:A 1902_100_34_R->W 0.000199681 39 chr19:44079120:G:A 1902_86_29_T->I 0.000199681 39 chr19:44079591:C:A 1902_20_7_R->L 0.000599042 39 na12878 Variants: 39 chr19:44047826:T:A 1902_1726_576_N->Y 39 chr19:44055726:T:C 1902_1196_399_Q->R 39 snyder Variants: 39 chr19:44047826:T:A 1902_1726_576_N->Y 40 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000105379_ENST00000354232 gene_Name: ETFB_HUMAN 40 list of pdbs: 40 2A1U pdb_description: 05-Jul-05 X-ray 2.110 Crystal structure of the human etf e165betaa mutant 40 1EFV pdb_description: 03-Dec-97 X-ray 2.100 Three-dimensional structure of human electron transfer flavoprotein to 2.1 a resolution 40 2A1T pdb_description: 05-Jul-05 X-ray 2.800 Structure of the human mcad:etf e165betaa complex 40 1T9G pdb_description: 08-Jun-04 X-ray 2.900 Structure of the human mcad:etf complex 40 Zimmer Variants: 40 chr19:51850290:G:A 1041_734_245_T->M;HUB=REG;GNEG=Yes;GENE=ETFB;CDSS=4 40 HGMD Variants: 40 chr19:51850180:G:A 1041_844_282_R->C 40 chr19:51850260:C:T 1041_764_255_R->Q 40 chr19:51850261:G:A 1041_763_255_R->W 40 chr19:51853639:C:T 1041_655_219_D->N 40 chr19:51856386:C:G 1041_648_216_Q->H 40 chr19:51856469:G:A 1041_565_189_R->C 40 chr19:51857496:A:G 1041_397_133_C->R 40 chr19:51857658:C:T 1041_235_79_V->I 40 oneKG Variants: 40 chr19:51848473:G:A 1041_1033_345_R->W 0.000199681 40 chr19:51848524:C:T 1041_982_328_V->I 0.000199681 40 chr19:51848535:C:T 1041_971_324_R->H 0.000199681 40 chr19:51848551:C:T 1041_955_319_E->K 0.000199681 40 chr19:51850174:C:T 1041_850_284_A->T 0.000599042 40 chr19:51850210:C:T 1041_814_272_V->M 0.000199681 40 chr19:51850230:C:T 1041_794_265_R->H 0.00279553 40 chr19:51850253:G:C 1041_771_257_I->M 0.000399361 40 chr19:51850260:C:T 1041_764_255_R->Q 0.000199681 40 chr19:51850266:A:G 1041_758_253_V->A 0.000199681 40 chr19:51850290:G:A 1041_734_245_T->M 0.419728 40 chr19:51850299:G:A 1041_725_242_S->F 0.00219649 40 chr19:51856444:C:T 1041_590_197_R->Q 0.000199681 40 chr19:51856469:G:A 1041_565_189_R->C 0.000399361 40 chr19:51856483:G:A 1041_551_184_P->L 0.000199681 40 chr19:51856529:C:T 1041_505_169_A->T 0.000199681 40 chr19:51857542:C:G 1041_351_117_R->S 0.000199681 40 chr19:51857589:G:T 1041_304_102_P->T 0.000399361 40 chr19:51857598:G:A 1041_295_99_P->S 0.000199681 40 chr19:51857620:C:A 1041_273_91_R->S 0.000199681 40 chr19:51857658:C:T 1041_235_79_V->I 0.00119808 40 chr19:51857738:G:A 1041_155_52_P->L 0.0772764 40 chr19:51857774:T:G 1041_119_40_E->A 0.000798722 40 chr19:51857780:G:A 1041_113_38_T->I 0.000199681 40 chr19:51857814:T:C 1041_79_27_T->A 0.000199681 40 chr19:51857834:C:A 1041_59_20_G->V 0.000199681 40 chr19:51857889:A:G 1041_4_2_Y->H 0.000199681 40 na12878 Variants: 40 chr19:51850290:G:A 1041_734_245_T->M 40 snyder Variants: 40 chr19:51850290:G:A 1041_734_245_T->M 41 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000105379_ENST00000309244 gene_Name: ETFB_HUMAN 41 list of pdbs: 41 2A1U pdb_description: 05-Jul-05 X-ray 2.110 Crystal structure of the human etf e165betaa mutant 41 1EFV pdb_description: 03-Dec-97 X-ray 2.100 Three-dimensional structure of human electron transfer flavoprotein to 2.1 a resolution 41 2A1T pdb_description: 05-Jul-05 X-ray 2.800 Structure of the human mcad:etf e165betaa complex 41 1T9G pdb_description: 08-Jun-04 X-ray 2.900 Structure of the human mcad:etf complex 41 Zimmer Variants: 41 chr19:51850290:G:A 768_461_154_T->M 41 HGMD Variants: 41 chr19:51869526:T:A 768_55_19_K->* 41 chr19:51850180:G:A 768_571_191_R->C 41 chr19:51850260:C:T 768_491_164_R->Q 41 chr19:51850261:G:A 768_490_164_R->W 41 chr19:51853639:C:T 768_382_128_D->N 41 chr19:51856386:C:G 768_375_125_Q->H 41 chr19:51856469:G:A 768_292_98_R->C 41 chr19:51857496:A:G 768_124_42_C->R 41 chr19:51869532:C:G 768_49_17_A->P 41 oneKG Variants: 41 chr19:51848473:G:A 768_760_254_R->W 0.000199681 41 chr19:51848524:C:T 768_709_237_V->I 0.000199681 41 chr19:51848535:C:T 768_698_233_R->H 0.000199681 41 chr19:51848551:C:T 768_682_228_E->K 0.000199681 41 chr19:51850174:C:T 768_577_193_A->T 0.000599042 41 chr19:51850210:C:T 768_541_181_V->M 0.000199681 41 chr19:51850230:C:T 768_521_174_R->H 0.00279553 41 chr19:51850253:G:C 768_498_166_I->M 0.000399361 41 chr19:51850260:C:T 768_491_164_R->Q 0.000199681 41 chr19:51850266:A:G 768_485_162_V->A 0.000199681 41 chr19:51850290:G:A 768_461_154_T->M 0.419728 41 chr19:51850299:G:A 768_452_151_S->F 0.00219649 41 chr19:51856444:C:T 768_317_106_R->Q 0.000199681 41 chr19:51856469:G:A 768_292_98_R->C 0.000399361 41 chr19:51856483:G:A 768_278_93_P->L 0.000199681 41 chr19:51856529:C:T 768_232_78_A->T 0.000199681 41 chr19:51857542:C:G 768_78_26_R->S 0.000199681 41 chr19:51869553:C:G 768_28_10_V->L 0.000399361 41 chr19:51869559:C:T 768_22_8_V->I 0.000199681 41 na12878 Variants: 41 chr19:51850290:G:A 768_461_154_T->M 41 snyder Variants: 41 chr19:51850290:G:A 768_461_154_T->M 42 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115267_ENST00000263642 gene_Name: IFIH1_HUMAN 42 list of pdbs: 42 4GL2 pdb_description: 09-Jan-13 X-ray 3.560 Structural basis for dsrna duplex backbone recognition by md 42 3GA3 pdb_description: 24-Feb-09 X-ray 1.450 Crystal structure of thE C-terminal domain of human mda5 42 3B6E pdb_description: 13-Nov-07 X-ray 1.600 Crystal structure of human dech-box RNA helicase mda5 (melan differentiation-associated protein 5), dech-domain 42 2RQB pdb_description: 05-May-09 NMR 20 Solution structure of mda5 ctd 42 Zimmer Variants: 42 chr2:163124051:C:T 3078_2836_946_A->T;HUB=REG;GNEG=Yes;GENE=IFIH1;CDSS=4;DBRECUR=IFIH1 42 chr2:163128824:T:C 3078_2528_843_H->R;HUB=REG;GNEG=Yes;GENE=IFIH1;CDSS=4;DBRECUR=IFIH1 42 HGMD Variants: 42 chr2:163134090:C:A 3078_1879_627_E->* 42 chr2:163124051:C:T 3078_2836_946_A->T 42 chr2:163124637:T:C 3078_2767_923_I->V 42 chr2:163128824:T:C 3078_2528_843_H->R 42 chr2:163128881:C:T 3078_2471_824_R->K 42 chr2:163128887:C:T 3078_2465_822_R->Q 42 chr2:163130423:C:T 3078_2336_779_R->H 42 chr2:163130424:G:A 3078_2335_779_R->C 42 chr2:163133342:C:T 3078_2159_720_R->Q 42 chr2:163137879:C:T 3078_1483_495_G->R 42 chr2:163138008:C:T 3078_1354_452_A->T 42 chr2:163139004:T:A 3078_1178_393_D->V 42 chr2:163139068:G:A 3078_1114_372_L->F 42 chr2:163144731:T:C 3078_1009_337_R->G 42 oneKG Variants: 42 chr2:163134090:C:A 3078_1879_627_E->* 0.00139776 42 chr2:163123744:T:C 3078_3044_1015_Y->C 0.000399361 42 chr2:163123752:A:T 3078_3036_1012_N->K 0.000199681 42 chr2:163124024:G:C 3078_2863_955_Q->E 0.000599042 42 chr2:163124026:T:C 3078_2861_954_Y->C 0.000199681 42 chr2:163124051:C:T 3078_2836_946_A->T 0.356629 42 chr2:163124619:C:T 3078_2785_929_V->I 0.000599042 42 chr2:163124637:T:C 3078_2767_923_I->V 0.00239617 42 chr2:163124690:A:G 3078_2714_905_F->S 0.000399361 42 chr2:163128743:G:A 3078_2609_870_A->V 0.000199681 42 chr2:163128752:T:C 3078_2600_867_E->G 0.000599042 42 chr2:163128755:G:A 3078_2597_866_P->L 0.000399361 42 chr2:163128824:T:C 3078_2528_843_H->R 0.410144 42 chr2:163128828:C:T 3078_2524_842_E->K 0.000399361 42 chr2:163130311:C:T 3078_2448_816_M->I 0.000199681 42 chr2:163130397:C:T 3078_2362_788_A->T 0.00219649 42 chr2:163133269:A:T 3078_2232_744_F->L 0.000399361 42 chr2:163133303:G:A 3078_2198_733_A->V 0.000399361 42 chr2:163133386:T:G 3078_2115_705_R->S 0.000998403 42 chr2:163133396:G:A 3078_2105_702_T->I 0.00119808 42 chr2:163133432:A:G 3078_2069_690_L->P 0.000199681 42 chr2:163133954:G:A 3078_2015_672_T->I 0.000199681 42 chr2:163134004:A:T 3078_1965_655_D->E 0.000199681 42 chr2:163134021:C:T 3078_1948_650_D->N 0.000399361 42 chr2:163134033:C:T 3078_1936_646_D->N 0.000199681 42 chr2:163134070:C:A 3078_1899_633_E->D 0.000199681 42 chr2:163134081:A:G 3078_1888_630_Y->H 0.000199681 42 chr2:163134141:C:T 3078_1828_610_A->T 0.000199681 42 chr2:163134176:C:T 3078_1793_598_R->H 0.000399361 42 chr2:163134186:G:T 3078_1783_595_R->S 0.000399361 42 chr2:163134203:G:T 3078_1766_589_A->D 0.000199681 42 chr2:163134715:C:T 3078_1765_589_A->T 0.000199681 42 chr2:163134757:T:C 3078_1723_575_T->A 0.000599042 42 chr2:163134828:T:C 3078_1652_551_K->R 0.000199681 42 chr2:163136557:G:C 3078_1590_530_N->K 0.000199681 42 chr2:163136589:T:C 3078_1558_520_T->A 0.000199681 42 chr2:163137846:T:C 3078_1516_506_I->V 0.000199681 42 chr2:163137866:T:G 3078_1496_499_Q->P 0.000199681 42 chr2:163137881:C:A 3078_1481_494_G->V 0.00359425 42 chr2:163137905:C:G 3078_1457_486_G->A 0.000199681 42 chr2:163137983:T:C 3078_1379_460_H->R 0.19369 42 chr2:163137984:G:A 3078_1378_460_H->Y 0.000199681 42 chr2:163138007:G:A 3078_1355_452_A->V 0.000199681 42 chr2:163138939:G:T 3078_1243_415_Q->K 0.000199681 42 chr2:163138942:C:G 3078_1240_414_A->P 0.000199681 42 chr2:163139025:C:T 3078_1157_386_R->H 0.000199681 42 chr2:163139061:C:T 3078_1121_374_R->H 0.000199681 42 chr2:163139085:A:T 3078_1097_366_V->E 0.00159744 42 chr2:163144647:T:C 3078_1093_365_K->E 0.00119808 42 chr2:163144674:G:T 3078_1066_356_P->T 0.000199681 42 chr2:163144694:T:C 3078_1046_349_K->R 0.00319489 42 chr2:163144699:T:G 3078_1041_347_L->F 0.000399361 42 chr2:163163245:G:C 3078_743_248_S->C 0.000199681 42 chr2:163163335:G:A 3078_653_218_P->L 0.000199681 42 chr2:163163344:A:G 3078_644_215_V->A 0.000199681 42 chr2:163163361:A:C 3078_627_209_I->M 0.000199681 42 chr2:163167320:G:T 3078_577_193_L->I 0.000199681 42 chr2:163167322:T:C 3078_575_192_E->G 0.000199681 42 chr2:163167340:C:T 3078_557_186_R->H 0.000199681 42 chr2:163167341:G:A 3078_556_186_R->C 0.000199681 42 chr2:163167419:T:C 3078_478_160_N->D 0.000599042 42 chr2:163174373:T:C 3078_445_149_R->G 0.000199681 42 chr2:163174382:T:C 3078_436_146_I->V 0.00119808 42 chr2:163174419:G:T 3078_399_133_D->E 0.000199681 42 chr2:163174445:G:C 3078_373_125_L->V 0.000199681 42 chr2:163174564:C:T 3078_254_85_R->K 0.000199681 42 chr2:163174589:G:A 3078_229_77_R->W 0.000998403 42 chr2:163174667:C:A 3078_151_51_A->S 0.000199681 42 chr2:163174755:C:A 3078_63_21_R->S 0.000399361 42 na12878 Variants: 42 chr2:163124051:C:T 3078_2836_946_A->T 42 chr2:163128824:T:C 3078_2528_843_H->R 42 snyder Variants: 42 chr2:163128824:T:C 3078_2528_843_H->R 43 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000081479_ENST00000263816 gene_Name: LRP2_HUMAN 43 list of pdbs: 43 2M0P pdb_description: 09-Jan-13 NMR 20 Solution structure of the tenth complement type repeat of hu megalin 43 Zimmer Variants: 43 chr2:170003432:T:G 13968_12628_4210_I->L;HUB=PPI;GNEG=Yes;GENE=LRP2;CDSS=4;DBRECUR=LRP2 43 chr2:170010985:T:C 13968_12280_4094_K->E;HUB=PPI;GNEG=Yes;GENE=LRP2;CDSS=4;DBRECUR=LRP2 43 chr2:170053505:C:T 13968_8614_2872_A->T;HUB=PPI;GNEG=Yes;GENE=LRP2;CDSS=3;DBRECUR=LRP2 43 HGMD Variants: 43 chr2:170034511:G:A 13968_10195_3399_R->* 43 chr2:170042308:G:A 13968_9550_3184_R->* 43 chr2:170139461:G:A 13968_1093_365_R->* 43 chr2:169996070:C:T 13968_13250_4417_G->D 43 chr2:169997050:C:T 13968_13114_4372_E->K 43 chr2:170003432:T:G 13968_12628_4210_I->L 43 chr2:170009391:G:T 13968_12379_4127_R->S 43 chr2:170026226:T:C 13968_11483_3828_D->G 43 chr2:170030506:C:T 13968_10937_3646_R->H 43 chr2:170062140:A:G 13968_7564_2522_Y->H 43 chr2:170068598:C:T 13968_6160_2054_D->N 43 chr2:170129547:C:T 13968_2006_669_G->D 43 chr2:170136012:T:G 13968_1435_479_N->H 43 oneKG Variants: 43 chr2:170070350:G:A 13968_5857_1953_R->* 0.000199681 43 chr2:169985220:T:A 13968_13921_4641_T->S 0.000998403 43 chr2:169985261:G:A 13968_13880_4627_S->L 0.000199681 43 chr2:169985309:G:A 13968_13832_4611_A->V 0.000199681 43 chr2:169985321:T:A 13968_13820_4607_E->V 0.000199681 43 chr2:169985334:T:C 13968_13807_4603_N->D 0.000199681 43 chr2:169985338:C:T 13968_13803_4601_M->I 0.00758786 43 chr2:169985566:T:C 13968_13757_4586_K->R 0.000199681 43 chr2:169989127:A:G 13968_13685_4562_V->A 0.000798722 43 chr2:169989132:C:A 13968_13680_4560_E->D 0.000399361 43 chr2:169993912:T:G 13968_13610_4537_Q->P 0.000798722 43 chr2:169993992:A:C 13968_13530_4510_F->L 0.000199681 43 chr2:169995146:T:G 13968_13459_4487_M->L 0.000199681 43 chr2:169996070:C:T 13968_13250_4417_G->D 0.00579073 43 chr2:169997005:C:T 13968_13159_4387_G->R 0.000199681 43 chr2:170003261:T:C 13968_12799_4267_I->V 0.000199681 43 chr2:170003332:C:T 13968_12728_4243_R->Q 0.000199681 43 chr2:170003335:T:C 13968_12725_4242_D->G 0.000199681 43 chr2:170003384:C:T 13968_12676_4226_E->K 0.000199681 43 chr2:170003432:T:G 13968_12628_4210_I->L 0.444089 43 chr2:170007504:C:T 13968_12494_4165_R->H 0.000399361 43 chr2:170007505:G:A 13968_12493_4165_R->C 0.000199681 43 chr2:170009315:A:T 13968_12455_4152_V->D 0.000199681 43 chr2:170009349:C:G 13968_12421_4141_V->L 0.000199681 43 chr2:170009390:C:T 13968_12380_4127_R->H 0.000798722 43 chr2:170009391:G:T 13968_12379_4127_R->S 0.00159744 43 chr2:170009394:C:T 13968_12376_4126_G->S 0.000199681 43 chr2:170009453:C:T 13968_12317_4106_R->Q 0.000199681 43 chr2:170010978:A:G 13968_12287_4096_I->T 0.000399361 43 chr2:170010981:T:A 13968_12284_4095_D->V 0.000199681 43 chr2:170010985:T:C 13968_12280_4094_K->E 0.222045 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13968_1973_658_Y->C 0.00159744 43 chr2:170131564:A:C 13968_1957_653_S->A 0.000199681 43 chr2:170131570:A:G 13968_1951_651_Y->H 0.000199681 43 chr2:170131576:T:C 13968_1945_649_T->A 0.000199681 43 chr2:170131584:T:C 13968_1937_646_Y->C 0.000199681 43 chr2:170131699:T:C 13968_1822_608_S->G 0.000399361 43 chr2:170134327:A:G 13968_1700_567_I->T 0.000199681 43 chr2:170134385:G:A 13968_1642_548_R->C 0.000199681 43 chr2:170134415:G:C 13968_1612_538_L->V 0.000199681 43 chr2:170135945:C:T 13968_1502_501_R->Q 0.00139776 43 chr2:170135962:A:C 13968_1485_495_N->K 0.000199681 43 chr2:170136101:A:T 13968_1346_449_F->Y 0.00119808 43 chr2:170136922:C:T 13968_1279_427_V->M 0.000199681 43 chr2:170136996:C:T 13968_1205_402_R->Q 0.000399361 43 chr2:170137002:T:C 13968_1199_400_N->S 0.000199681 43 chr2:170137012:T:C 13968_1189_397_I->V 0.000199681 43 chr2:170137015:T:C 13968_1186_396_I->V 0.000199681 43 chr2:170139387:A:C 13968_1167_389_D->E 0.0101837 43 chr2:170139414:C:A 13968_1140_380_E->D 0.000199681 43 chr2:170145652:A:C 13968_926_309_M->R 0.000199681 43 chr2:170147414:C:T 13968_863_288_G->E 0.000199681 43 chr2:170147463:A:G 13968_814_272_S->P 0.000199681 43 chr2:170147502:C:G 13968_775_259_G->R 0.0403355 43 chr2:170148844:G:C 13968_688_230_P->A 0.000199681 43 chr2:170148865:C:T 13968_667_223_G->S 0.000199681 43 chr2:170150757:G:A 13968_553_185_H->Y 0.000199681 43 chr2:170151136:C:G 13968_512_171_R->T 0.000998403 43 chr2:170163815:C:T 13968_403_135_D->N 0.000998403 43 chr2:170163827:T:C 13968_391_131_R->G 0.000399361 43 chr2:170163829:A:G 13968_389_130_V->A 0.000199681 43 chr2:170175283:C:T 13968_299_100_R->H 0.000599042 43 chr2:170175334:T:C 13968_248_83_N->S 0.30631 43 chr2:170175349:C:G 13968_233_78_G->A 0.000199681 43 chr2:170175352:T:A 13968_230_77_E->V 0.000199681 43 chr2:170177304:G:A 13968_170_57_A->V 0.000998403 43 chr2:170177305:C:A 13968_169_57_A->S 0.000199681 43 chr2:170177325:G:C 13968_149_50_T->S 0.00119808 43 chr2:170177373:C:T 13968_101_34_R->H 0.000399361 43 chr2:170177382:G:A 13968_92_31_A->V 0.00738818 43 na12878 Variants: 43 chr2:170003432:T:G 13968_12628_4210_I->L 43 chr2:170010985:T:C 13968_12280_4094_K->E 43 snyder Variants: 43 chr2:170003432:T:G 13968_12628_4210_I->L 43 chr2:170010985:T:C 13968_12280_4094_K->E 43 chr2:170147502:C:G 13968_775_259_G->R 43 chr2:170053505:C:T 13968_8614_2872_A->T 43 chr2:170175334:T:C 13968_248_83_N->S 44 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115935_ENST00000392547 gene_Name: WIPF1_HUMAN 44 list of pdbs: 44 2A41 pdb_description: 01-Nov-05 X-ray 2.600 Ternary complex of the wh2 domain of wip with actin-dnase i 44 Zimmer Variants: 44 chr2:175436940:G:A 1512_593_198_P->L 44 HGMD Variants: 44 chr2:175432630:G:C 1512_1301_434_S->* 44 oneKG Variants: 44 chr2:175431833:C:T 1512_1421_474_S->N 0.000199681 44 chr2:175432642:G:T 1512_1289_430_P->Q 0.000199681 44 chr2:175436496:G:A 1512_1037_346_P->L 0.000399361 44 chr2:175436545:C:T 1512_988_330_E->K 0.000199681 44 chr2:175436555:G:C 1512_978_326_S->R 0.000399361 44 chr2:175436640:G:A 1512_893_298_P->L 0.000199681 44 chr2:175436646:G:T 1512_887_296_S->Y 0.000399361 44 chr2:175436827:G:A 1512_706_236_R->C 0.000399361 44 chr2:175436828:T:C 1512_705_235_I->M 0.000199681 44 chr2:175436872:G:C 1512_661_221_P->A 0.000199681 44 chr2:175436940:G:A 1512_593_198_P->L 0.092053 44 chr2:175436943:C:T 1512_590_197_S->N 0.00119808 44 chr2:175437024:G:C 1512_509_170_P->R 0.000599042 44 chr2:175440031:C:T 1512_259_87_G->R 0.000199681 44 chr2:175440055:C:T 1512_235_79_G->R 0.000199681 44 chr2:175440082:C:T 1512_208_70_G->S 0.000399361 44 chr2:175446128:C:A 1512_91_31_A->S 0.000199681 44 chr2:175446163:T:C 1512_56_19_N->S 0.000199681 44 chr2:175450270:G:A 1512_32_11_P->L 0.000599042 44 na12878 Variants: 44 chr2:175436940:G:A 1512_593_198_P->L 44 snyder Variants: 44 chr2:175436940:G:A 1512_593_198_P->L 45 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115935_ENST00000272746 gene_Name: WIPF1_HUMAN 45 list of pdbs: 45 2A41 pdb_description: 01-Nov-05 X-ray 2.600 Ternary complex of the wh2 domain of wip with actin-dnase i 45 Zimmer Variants: 45 chr2:175436940:G:A 1533_593_198_P->L 45 HGMD Variants: 45 chr2:175432630:G:C 1533_1301_434_S->* 45 oneKG Variants: 45 chr2:175431833:C:T 1533_1421_474_S->N 0.000199681 45 chr2:175432642:G:T 1533_1289_430_P->Q 0.000199681 45 chr2:175436496:G:A 1533_1037_346_P->L 0.000399361 45 chr2:175436545:C:T 1533_988_330_E->K 0.000199681 45 chr2:175436555:G:C 1533_978_326_S->R 0.000399361 45 chr2:175436640:G:A 1533_893_298_P->L 0.000199681 45 chr2:175436646:G:T 1533_887_296_S->Y 0.000399361 45 chr2:175436827:G:A 1533_706_236_R->C 0.000399361 45 chr2:175436828:T:C 1533_705_235_I->M 0.000199681 45 chr2:175436872:G:C 1533_661_221_P->A 0.000199681 45 chr2:175436940:G:A 1533_593_198_P->L 0.092053 45 chr2:175436943:C:T 1533_590_197_S->N 0.00119808 45 chr2:175437024:G:C 1533_509_170_P->R 0.000599042 45 chr2:175440031:C:T 1533_259_87_G->R 0.000199681 45 chr2:175440055:C:T 1533_235_79_G->R 0.000199681 45 chr2:175440082:C:T 1533_208_70_G->S 0.000399361 45 chr2:175446128:C:A 1533_91_31_A->S 0.000199681 45 chr2:175446163:T:C 1533_56_19_N->S 0.000199681 45 chr2:175450270:G:A 1533_32_11_P->L 0.000599042 45 na12878 Variants: 45 chr2:175436940:G:A 1533_593_198_P->L 45 snyder Variants: 45 chr2:175436940:G:A 1533_593_198_P->L 46 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115935_ENST00000359761 gene_Name: WIPF1_HUMAN 46 list of pdbs: 46 2A41 pdb_description: 01-Nov-05 X-ray 2.600 Ternary complex of the wh2 domain of wip with actin-dnase i 46 Zimmer Variants: 46 chr2:175436940:G:A 1512_593_198_P->L 46 HGMD Variants: 46 chr2:175432630:G:C 1512_1301_434_S->* 46 oneKG Variants: 46 chr2:175431833:C:T 1512_1421_474_S->N 0.000199681 46 chr2:175432642:G:T 1512_1289_430_P->Q 0.000199681 46 chr2:175436496:G:A 1512_1037_346_P->L 0.000399361 46 chr2:175436545:C:T 1512_988_330_E->K 0.000199681 46 chr2:175436555:G:C 1512_978_326_S->R 0.000399361 46 chr2:175436640:G:A 1512_893_298_P->L 0.000199681 46 chr2:175436646:G:T 1512_887_296_S->Y 0.000399361 46 chr2:175436827:G:A 1512_706_236_R->C 0.000399361 46 chr2:175436828:T:C 1512_705_235_I->M 0.000199681 46 chr2:175436872:G:C 1512_661_221_P->A 0.000199681 46 chr2:175436940:G:A 1512_593_198_P->L 0.092053 46 chr2:175436943:C:T 1512_590_197_S->N 0.00119808 46 chr2:175437024:G:C 1512_509_170_P->R 0.000599042 46 chr2:175440031:C:T 1512_259_87_G->R 0.000199681 46 chr2:175440055:C:T 1512_235_79_G->R 0.000199681 46 chr2:175440082:C:T 1512_208_70_G->S 0.000399361 46 chr2:175446128:C:A 1512_91_31_A->S 0.000199681 46 chr2:175446163:T:C 1512_56_19_N->S 0.000199681 46 chr2:175450270:G:A 1512_32_11_P->L 0.000599042 46 na12878 Variants: 46 chr2:175436940:G:A 1512_593_198_P->L 46 snyder Variants: 46 chr2:175436940:G:A 1512_593_198_P->L 47 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115935_ENST00000392546 gene_Name: WIPF1_HUMAN 47 list of pdbs: 47 2A41 pdb_description: 01-Nov-05 X-ray 2.600 Ternary complex of the wh2 domain of wip with actin-dnase i 47 Zimmer Variants: 47 chr2:175436940:G:A 1512_593_198_P->L 47 HGMD Variants: 47 chr2:175432630:G:C 1512_1301_434_S->* 47 oneKG Variants: 47 chr2:175431833:C:T 1512_1421_474_S->N 0.000199681 47 chr2:175432642:G:T 1512_1289_430_P->Q 0.000199681 47 chr2:175436496:G:A 1512_1037_346_P->L 0.000399361 47 chr2:175436545:C:T 1512_988_330_E->K 0.000199681 47 chr2:175436555:G:C 1512_978_326_S->R 0.000399361 47 chr2:175436640:G:A 1512_893_298_P->L 0.000199681 47 chr2:175436646:G:T 1512_887_296_S->Y 0.000399361 47 chr2:175436827:G:A 1512_706_236_R->C 0.000399361 47 chr2:175436828:T:C 1512_705_235_I->M 0.000199681 47 chr2:175436872:G:C 1512_661_221_P->A 0.000199681 47 chr2:175436940:G:A 1512_593_198_P->L 0.092053 47 chr2:175436943:C:T 1512_590_197_S->N 0.00119808 47 chr2:175437024:G:C 1512_509_170_P->R 0.000599042 47 chr2:175440031:C:T 1512_259_87_G->R 0.000199681 47 chr2:175440055:C:T 1512_235_79_G->R 0.000199681 47 chr2:175440082:C:T 1512_208_70_G->S 0.000399361 47 chr2:175446128:C:A 1512_91_31_A->S 0.000199681 47 chr2:175446163:T:C 1512_56_19_N->S 0.000199681 47 chr2:175450270:G:A 1512_32_11_P->L 0.000599042 47 na12878 Variants: 47 chr2:175436940:G:A 1512_593_198_P->L 47 snyder Variants: 47 chr2:175436940:G:A 1512_593_198_P->L 48 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115935_ENST00000409891 gene_Name: WIPF1_HUMAN 48 list of pdbs: 48 2A41 pdb_description: 01-Nov-05 X-ray 2.600 Ternary complex of the wh2 domain of wip with actin-dnase i 48 Zimmer Variants: 48 chr2:175436940:G:A 1482_593_198_P->L 48 HGMD Variants: 48 chr2:175432630:G:C 1482_1301_434_S->* 48 oneKG Variants: 48 chr2:175431833:C:T 1482_1421_474_S->N 0.000199681 48 chr2:175432642:G:T 1482_1289_430_P->Q 0.000199681 48 chr2:175436496:G:A 1482_1037_346_P->L 0.000399361 48 chr2:175436545:C:T 1482_988_330_E->K 0.000199681 48 chr2:175436555:G:C 1482_978_326_S->R 0.000399361 48 chr2:175436640:G:A 1482_893_298_P->L 0.000199681 48 chr2:175436646:G:T 1482_887_296_S->Y 0.000399361 48 chr2:175436827:G:A 1482_706_236_R->C 0.000399361 48 chr2:175436828:T:C 1482_705_235_I->M 0.000199681 48 chr2:175436872:G:C 1482_661_221_P->A 0.000199681 48 chr2:175436940:G:A 1482_593_198_P->L 0.092053 48 chr2:175436943:C:T 1482_590_197_S->N 0.00119808 48 chr2:175437024:G:C 1482_509_170_P->R 0.000599042 48 chr2:175440031:C:T 1482_259_87_G->R 0.000199681 48 chr2:175440055:C:T 1482_235_79_G->R 0.000199681 48 chr2:175440082:C:T 1482_208_70_G->S 0.000399361 48 chr2:175446128:C:A 1482_91_31_A->S 0.000199681 48 chr2:175446163:T:C 1482_56_19_N->S 0.000199681 48 chr2:175450270:G:A 1482_32_11_P->L 0.000599042 48 na12878 Variants: 48 chr2:175436940:G:A 1482_593_198_P->L 48 snyder Variants: 48 chr2:175436940:G:A 1482_593_198_P->L 49 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000421182 gene_Name: FINC_HUMAN 49 list of pdbs: 49 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 49 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 49 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 49 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 49 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 49 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 49 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 49 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 49 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 49 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 49 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 49 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 49 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 49 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 49 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 49 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 49 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 49 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 49 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 49 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 49 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 49 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 49 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 49 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 49 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 49 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 49 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 49 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 49 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 49 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 49 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 49 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 49 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 49 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 49 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 49 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 49 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 49 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 49 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 49 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 49 Zimmer Variants: 49 chr2:216235089:C:T 6723_6070_2024_V->I 49 chr2:216272900:T:G 6723_2449_817_T->P 49 chr2:216300482:T:A 6723_44_15_Q->L 49 HGMD Variants: 49 chr2:216240408:A:C 6723_5378_1793_L->R 49 chr2:216241335:A:T 6723_5230_1744_W->R 49 chr2:216259404:C:T 6723_3643_1215_G->S 49 chr2:216262472:C:T 6723_3448_1150_V->I 49 chr2:216271029:T:C 6723_2918_973_Y->C 49 oneKG Variants: 49 chr2:216226285:C:T 6723_6716_2239_R->Q 0.000798722 49 chr2:216226780:C:T 6723_6563_2188_R->H 0.000199681 49 chr2:216226802:C:T 6723_6541_2181_G->S 0.000199681 49 chr2:216229670:C:T 6723_6472_2158_V->I 0.000199681 49 chr2:216230302:C:T 6723_6359_2120_R->H 0.000199681 49 chr2:216232654:T:A 6723_6239_2080_E->V 0.000199681 49 chr2:216232681:A:G 6723_6212_2071_V->A 0.00339457 49 chr2:216232682:C:T 6723_6211_2071_V->I 0.000199681 49 chr2:216232706:G:A 6723_6187_2063_P->S 0.000199681 49 chr2:216232717:G:A 6723_6176_2059_S->L 0.000399361 49 chr2:216235029:C:T 6723_6130_2044_V->M 0.000199681 49 chr2:216235046:C:T 6723_6113_2038_R->Q 0.0351438 49 chr2:216235089:C:T 6723_6070_2024_V->I 0.0002 49 chr2:216236639:G:C 6723_5996_1999_P->R 0.000199681 49 chr2:216236711:A:G 6723_5924_1975_I->T 0.000199681 49 chr2:216236712:T:C 6723_5923_1975_I->V 0.0159744 49 chr2:216236736:G:T 6723_5899_1967_Q->K 0.000199681 49 chr2:216236879:G:A 6723_5849_1950_T->M 0.000199681 49 chr2:216236888:G:A 6723_5840_1947_P->L 0.000199681 49 chr2:216236897:C:T 6723_5831_1944_R->Q 0.000199681 49 chr2:216236998:G:T 6723_5730_1910_H->Q 0.000199681 49 chr2:216237006:C:T 6723_5722_1908_V->I 0.000199681 49 chr2:216240021:T:C 6723_5530_1844_I->V 0.000199681 49 chr2:216240041:C:T 6723_5510_1837_R->H 0.000399361 49 chr2:216240093:G:A 6723_5458_1820_R->C 0.000199681 49 chr2:216240111:C:T 6723_5440_1814_D->N 0.000399361 49 chr2:216240113:A:G 6723_5438_1813_I->T 0.000199681 49 chr2:216240361:C:T 6723_5425_1809_A->T 0.000199681 49 chr2:216240375:G:T 6723_5411_1804_P->H 0.00179712 49 chr2:216241271:G:A 6723_5294_1765_T->I 0.000399361 49 chr2:216241343:G:T 6723_5222_1741_T->N 0.000199681 49 chr2:216241347:T:A 6723_5218_1740_I->F 0.000798722 49 chr2:216241388:G:A 6723_5177_1726_P->L 0.000399361 49 chr2:216242938:C:G 6723_5127_1709_L->F 0.000199681 49 chr2:216242949:T:C 6723_5116_1706_K->E 0.000199681 49 chr2:216242957:T:C 6723_5108_1703_Y->C 0.000399361 49 chr2:216243854:A:G 6723_5078_1693_M->T 0.000199681 49 chr2:216243867:C:A 6723_5065_1689_V->L 0.000199681 49 chr2:216243897:T:G 6723_5035_1679_N->H 0.000199681 49 chr2:216243938:C:T 6723_4994_1665_R->Q 0.000199681 49 chr2:216243993:T:C 6723_4939_1647_S->G 0.000399361 49 chr2:216247031:T:C 6723_4795_1599_I->V 0.000199681 49 chr2:216248068:G:A 6723_4760_1587_T->I 0.000199681 49 chr2:216248132:T:C 6723_4696_1566_S->G 0.000199681 49 chr2:216248174:C:T 6723_4654_1552_D->N 0.000199681 49 chr2:216248812:C:T 6723_4552_1518_V->M 0.000199681 49 chr2:216248836:G:A 6723_4528_1510_P->S 0.000399361 49 chr2:216248878:C:T 6723_4486_1496_V->M 0.000998403 49 chr2:216248902:T:C 6723_4462_1488_N->D 0.000199681 49 chr2:216249655:T:C 6723_4384_1462_T->A 0.000199681 49 chr2:216249658:G:C 6723_4381_1461_P->A 0.000199681 49 chr2:216249663:G:A 6723_4376_1459_A->V 0.000199681 49 chr2:216249687:G:A 6723_4352_1451_P->L 0.000199681 49 chr2:216251421:G:T 6723_4330_1444_Q->K 0.000199681 49 chr2:216251465:A:C 6723_4286_1429_V->G 0.0 49 chr2:216251538:G:A 6723_4213_1405_R->W 0.00279553 49 chr2:216251580:G:A 6723_4171_1391_R->C 0.00139776 49 chr2:216251630:A:G 6723_4121_1374_F->S 0.000199681 49 chr2:216251667:T:C 6723_4084_1362_T->A 0.000199681 49 chr2:216256388:T:C 6723_3946_1316_I->V 0.00479233 49 chr2:216256394:A:C 6723_3940_1314_L->V 0.000399361 49 chr2:216256402:A:G 6723_3932_1311_V->A 0.000199681 49 chr2:216259262:G:T 6723_3785_1262_T->N 0.000199681 49 chr2:216259357:G:T 6723_3690_1230_S->R 0.000199681 49 chr2:216261932:T:C 6723_3532_1178_T->A 0.00139776 49 chr2:216262429:G:A 6723_3491_1164_A->V 0.000399361 49 chr2:216262454:G:C 6723_3466_1156_L->V 0.000199681 49 chr2:216262505:C:T 6723_3415_1139_V->I 0.000199681 49 chr2:216262556:T:G 6723_3364_1122_S->R 0.000199681 49 chr2:216264005:G:A 6723_3323_1108_T->M 0.000199681 49 chr2:216264021:T:G 6723_3307_1103_I->L 0.00838658 49 chr2:216264069:G:A 6723_3259_1087_P->S 0.000199681 49 chr2:216269133:C:T 6723_3232_1078_A->T 0.000199681 49 chr2:216269166:C:T 6723_3199_1067_V->M 0.000199681 49 chr2:216269207:A:T 6723_3158_1053_L->Q 0.000199681 49 chr2:216269235:C:T 6723_3130_1044_V->M 0.000599042 49 chr2:216269247:T:C 6723_3118_1040_R->G 0.00159744 49 chr2:216271068:G:C 6723_2879_960_T->S 0.000199681 49 chr2:216271170:A:G 6723_2777_926_M->T 0.000199681 49 chr2:216272843:C:A 6723_2506_836_A->S 0.000199681 49 chr2:216272900:T:G 6723_2449_817_T->P 0.0002 49 chr2:216272920:G:A 6723_2429_810_A->V 0.000199681 49 chr2:216273090:T:A 6723_2359_787_I->F 0.000399361 49 chr2:216274415:T:C 6723_2170_724_T->A 0.000199681 49 chr2:216274441:G:A 6723_2144_715_T->M 0.00119808 49 chr2:216274454:C:T 6723_2131_711_V->M 0.000199681 49 chr2:216274456:G:A 6723_2129_710_T->I 0.00638978 49 chr2:216274797:C:T 6723_1982_661_G->D 0.000199681 49 chr2:216274812:T:G 6723_1967_656_E->A 0.000199681 49 chr2:216279624:T:C 6723_1877_626_H->R 0.000199681 49 chr2:216279628:A:T 6723_1873_625_S->T 0.000199681 49 chr2:216279642:G:A 6723_1859_620_P->L 0.0 49 chr2:216284003:A:G 6723_1781_594_I->T 0.000399361 49 chr2:216284009:C:T 6723_1775_592_R->H 0.000599042 49 chr2:216284069:A:G 6723_1715_572_I->T 0.000599042 49 chr2:216284099:T:G 6723_1685_562_Q->P 0.000199681 49 chr2:216285446:T:C 6723_1625_542_N->S 0.000199681 49 chr2:216286852:C:T 6723_1508_503_R->H 0.000199681 49 chr2:216286912:T:C 6723_1448_483_Q->R 0.000199681 49 chr2:216288219:T:C 6723_1247_416_N->S 0.000599042 49 chr2:216288896:T:C 6723_1189_397_K->E 0.000199681 49 chr2:216289012:T:C 6723_1073_358_E->G 0.000399361 49 chr2:216289015:C:T 6723_1070_357_G->E 0.00119808 49 chr2:216289819:G:A 6723_1034_345_T->I 0.000199681 49 chr2:216292996:T:A 6723_751_251_N->Y 0.000199681 49 chr2:216293022:A:G 6723_725_242_I->T 0.000199681 49 chr2:216295531:C:T 6723_592_198_G->R 0.000199681 49 chr2:216296589:T:C 6723_514_172_N->D 0.000399361 49 chr2:216296636:C:G 6723_467_156_R->T 0.000199681 49 chr2:216298050:C:T 6723_412_138_A->T 0.000199681 49 chr2:216298059:A:G 6723_403_135_C->R 0.000199681 49 chr2:216298080:C:T 6723_382_128_A->T 0.000199681 49 chr2:216298149:T:G 6723_313_105_T->P 0.000199681 49 chr2:216299481:T:C 6723_215_72_N->S 0.000199681 49 chr2:216299494:T:A 6723_202_68_T->S 0.00139776 49 chr2:216299547:G:A 6723_149_50_P->L 0.000199681 49 chr2:216300383:C:T 6723_143_48_S->N 0.000199681 49 chr2:216300405:A:C 6723_121_41_S->A 0.00658946 49 chr2:216300417:C:T 6723_109_37_V->I 0.000199681 49 chr2:216300470:G:A 6723_56_19_T->I 0.0081869 49 chr2:216300482:T:A 6723_44_15_Q->L 0.204872 49 chr2:216300486:C:G 6723_40_14_V->L 0.00479233 49 chr2:216300497:A:G 6723_29_10_L->P 0.000199681 49 na12878 Variants: 49 chr2:216235089:C:T 6723_6070_2024_V->I 49 chr2:216272900:T:G 6723_2449_817_T->P 49 chr2:216300482:T:A 6723_44_15_Q->L 49 snyder Variants: 49 chr2:216235089:C:T 6723_6070_2024_V->I 49 chr2:216272900:T:G 6723_2449_817_T->P 49 chr2:216300482:T:A 6723_44_15_Q->L 50 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000323926 gene_Name: FINC_HUMAN 50 list of pdbs: 50 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 50 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 50 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 50 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 50 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 50 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 50 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 50 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 50 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 50 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 50 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 50 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 50 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 50 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 50 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 50 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 50 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 50 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 50 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 50 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 50 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 50 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 50 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 50 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 50 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 50 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 50 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 50 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 50 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 50 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 50 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 50 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 50 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 50 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 50 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 50 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 50 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 50 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 50 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 50 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 50 Zimmer Variants: 50 chr2:216235089:C:T 7341_6688_2230_V->I 50 chr2:216272900:T:G 7341_2449_817_T->P 50 chr2:216300482:T:A 7341_44_15_Q->L 50 HGMD Variants: 50 chr2:216240408:A:C 7341_5921_1974_L->R 50 chr2:216241335:A:T 7341_5773_1925_W->R 50 chr2:216259404:C:T 7341_3643_1215_G->S 50 chr2:216262472:C:T 7341_3448_1150_V->I 50 chr2:216271029:T:C 7341_2918_973_Y->C 50 oneKG Variants: 50 chr2:216245729:G:A 7341_5239_1747_Q->* 0.000199681 50 chr2:216226285:C:T 7341_7334_2445_R->Q 0.000798722 50 chr2:216226780:C:T 7341_7181_2394_R->H 0.000199681 50 chr2:216226802:C:T 7341_7159_2387_G->S 0.000199681 50 chr2:216229670:C:T 7341_7090_2364_V->I 0.000199681 50 chr2:216230302:C:T 7341_6977_2326_R->H 0.000199681 50 chr2:216232654:T:A 7341_6857_2286_E->V 0.000199681 50 chr2:216232681:A:G 7341_6830_2277_V->A 0.00339457 50 chr2:216232682:C:T 7341_6829_2277_V->I 0.000199681 50 chr2:216232706:G:A 7341_6805_2269_P->S 0.000199681 50 chr2:216232717:G:A 7341_6794_2265_S->L 0.000399361 50 chr2:216235029:C:T 7341_6748_2250_V->M 0.000199681 50 chr2:216235046:C:T 7341_6731_2244_R->Q 0.0351438 50 chr2:216235089:C:T 7341_6688_2230_V->I 0.0002 50 chr2:216236639:G:C 7341_6614_2205_P->R 0.000199681 50 chr2:216236711:A:G 7341_6542_2181_I->T 0.000199681 50 chr2:216236712:T:C 7341_6541_2181_I->V 0.0159744 50 chr2:216236736:G:T 7341_6517_2173_Q->K 0.000199681 50 chr2:216236879:G:A 7341_6467_2156_T->M 0.000199681 50 chr2:216236888:G:A 7341_6458_2153_P->L 0.000199681 50 chr2:216236897:C:T 7341_6449_2150_R->Q 0.000199681 50 chr2:216236998:G:T 7341_6348_2116_H->Q 0.000199681 50 chr2:216237006:C:T 7341_6340_2114_V->I 0.000199681 50 chr2:216240021:T:C 7341_6073_2025_I->V 0.000199681 50 chr2:216240041:C:T 7341_6053_2018_R->H 0.000399361 50 chr2:216240093:G:A 7341_6001_2001_R->C 0.000199681 50 chr2:216240111:C:T 7341_5983_1995_D->N 0.000399361 50 chr2:216240113:A:G 7341_5981_1994_I->T 0.000199681 50 chr2:216240361:C:T 7341_5968_1990_A->T 0.000199681 50 chr2:216240375:G:T 7341_5954_1985_P->H 0.00179712 50 chr2:216241271:G:A 7341_5837_1946_T->I 0.000399361 50 chr2:216241343:G:T 7341_5765_1922_T->N 0.000199681 50 chr2:216241347:T:A 7341_5761_1921_I->F 0.000798722 50 chr2:216241388:G:A 7341_5720_1907_P->L 0.000399361 50 chr2:216242938:C:G 7341_5670_1890_L->F 0.000199681 50 chr2:216242949:T:C 7341_5659_1887_K->E 0.000199681 50 chr2:216242957:T:C 7341_5651_1884_Y->C 0.000399361 50 chr2:216243854:A:G 7341_5621_1874_M->T 0.000199681 50 chr2:216243867:C:A 7341_5608_1870_V->L 0.000199681 50 chr2:216243897:T:G 7341_5578_1860_N->H 0.000199681 50 chr2:216243938:C:T 7341_5537_1846_R->Q 0.000199681 50 chr2:216243993:T:C 7341_5482_1828_S->G 0.000399361 50 chr2:216245569:A:G 7341_5399_1800_M->T 0.000199681 50 chr2:216245687:C:T 7341_5281_1761_E->K 0.000199681 50 chr2:216245792:G:T 7341_5176_1726_P->T 0.000199681 50 chr2:216247031:T:C 7341_5068_1690_I->V 0.000199681 50 chr2:216248068:G:A 7341_5033_1678_T->I 0.000199681 50 chr2:216248132:T:C 7341_4969_1657_S->G 0.000199681 50 chr2:216248174:C:T 7341_4927_1643_D->N 0.000199681 50 chr2:216248812:C:T 7341_4825_1609_V->M 0.000199681 50 chr2:216248836:G:A 7341_4801_1601_P->S 0.000399361 50 chr2:216248878:C:T 7341_4759_1587_V->M 0.000998403 50 chr2:216248902:T:C 7341_4735_1579_N->D 0.000199681 50 chr2:216249655:T:C 7341_4657_1553_T->A 0.000199681 50 chr2:216249658:G:C 7341_4654_1552_P->A 0.000199681 50 chr2:216249663:G:A 7341_4649_1550_A->V 0.000199681 50 chr2:216249687:G:A 7341_4625_1542_P->L 0.000199681 50 chr2:216251421:G:T 7341_4603_1535_Q->K 0.000199681 50 chr2:216251465:A:C 7341_4559_1520_V->G 0.0 50 chr2:216251538:G:A 7341_4486_1496_R->W 0.00279553 50 chr2:216251580:G:A 7341_4444_1482_R->C 0.00139776 50 chr2:216251630:A:G 7341_4394_1465_F->S 0.000199681 50 chr2:216251667:T:C 7341_4357_1453_T->A 0.000199681 50 chr2:216256388:T:C 7341_4219_1407_I->V 0.00479233 50 chr2:216256394:A:C 7341_4213_1405_L->V 0.000399361 50 chr2:216256402:A:G 7341_4205_1402_V->A 0.000199681 50 chr2:216257690:C:T 7341_4033_1345_G->S 0.000199681 50 chr2:216257711:C:T 7341_4012_1338_V->I 0.000199681 50 chr2:216257717:T:C 7341_4006_1336_I->V 0.000199681 50 chr2:216257753:T:C 7341_3970_1324_T->A 0.000199681 50 chr2:216257755:T:C 7341_3968_1323_Y->C 0.000199681 50 chr2:216257770:G:C 7341_3953_1318_S->C 0.000199681 50 chr2:216257828:G:A 7341_3895_1299_R->C 0.000199681 50 chr2:216259262:G:T 7341_3785_1262_T->N 0.000199681 50 chr2:216259357:G:T 7341_3690_1230_S->R 0.000199681 50 chr2:216261932:T:C 7341_3532_1178_T->A 0.00139776 50 chr2:216262429:G:A 7341_3491_1164_A->V 0.000399361 50 chr2:216262454:G:C 7341_3466_1156_L->V 0.000199681 50 chr2:216262505:C:T 7341_3415_1139_V->I 0.000199681 50 chr2:216262556:T:G 7341_3364_1122_S->R 0.000199681 50 chr2:216264005:G:A 7341_3323_1108_T->M 0.000199681 50 chr2:216264021:T:G 7341_3307_1103_I->L 0.00838658 50 chr2:216264069:G:A 7341_3259_1087_P->S 0.000199681 50 chr2:216269133:C:T 7341_3232_1078_A->T 0.000199681 50 chr2:216269166:C:T 7341_3199_1067_V->M 0.000199681 50 chr2:216269207:A:T 7341_3158_1053_L->Q 0.000199681 50 chr2:216269235:C:T 7341_3130_1044_V->M 0.000599042 50 chr2:216269247:T:C 7341_3118_1040_R->G 0.00159744 50 chr2:216271068:G:C 7341_2879_960_T->S 0.000199681 50 chr2:216271170:A:G 7341_2777_926_M->T 0.000199681 50 chr2:216272843:C:A 7341_2506_836_A->S 0.000199681 50 chr2:216272900:T:G 7341_2449_817_T->P 0.0002 50 chr2:216272920:G:A 7341_2429_810_A->V 0.000199681 50 chr2:216273090:T:A 7341_2359_787_I->F 0.000399361 50 chr2:216274415:T:C 7341_2170_724_T->A 0.000199681 50 chr2:216274441:G:A 7341_2144_715_T->M 0.00119808 50 chr2:216274454:C:T 7341_2131_711_V->M 0.000199681 50 chr2:216274456:G:A 7341_2129_710_T->I 0.00638978 50 chr2:216274797:C:T 7341_1982_661_G->D 0.000199681 50 chr2:216274812:T:G 7341_1967_656_E->A 0.000199681 50 chr2:216279624:T:C 7341_1877_626_H->R 0.000199681 50 chr2:216279628:A:T 7341_1873_625_S->T 0.000199681 50 chr2:216279642:G:A 7341_1859_620_P->L 0.0 50 chr2:216284003:A:G 7341_1781_594_I->T 0.000399361 50 chr2:216284009:C:T 7341_1775_592_R->H 0.000599042 50 chr2:216284069:A:G 7341_1715_572_I->T 0.000599042 50 chr2:216284099:T:G 7341_1685_562_Q->P 0.000199681 50 chr2:216285446:T:C 7341_1625_542_N->S 0.000199681 50 chr2:216286852:C:T 7341_1508_503_R->H 0.000199681 50 chr2:216286912:T:C 7341_1448_483_Q->R 0.000199681 50 chr2:216288219:T:C 7341_1247_416_N->S 0.000599042 50 chr2:216288896:T:C 7341_1189_397_K->E 0.000199681 50 chr2:216289012:T:C 7341_1073_358_E->G 0.000399361 50 chr2:216289015:C:T 7341_1070_357_G->E 0.00119808 50 chr2:216289819:G:A 7341_1034_345_T->I 0.000199681 50 chr2:216292996:T:A 7341_751_251_N->Y 0.000199681 50 chr2:216293022:A:G 7341_725_242_I->T 0.000199681 50 chr2:216295531:C:T 7341_592_198_G->R 0.000199681 50 chr2:216296589:T:C 7341_514_172_N->D 0.000399361 50 chr2:216296636:C:G 7341_467_156_R->T 0.000199681 50 chr2:216298050:C:T 7341_412_138_A->T 0.000199681 50 chr2:216298059:A:G 7341_403_135_C->R 0.000199681 50 chr2:216298080:C:T 7341_382_128_A->T 0.000199681 50 chr2:216298149:T:G 7341_313_105_T->P 0.000199681 50 chr2:216299481:T:C 7341_215_72_N->S 0.000199681 50 chr2:216299494:T:A 7341_202_68_T->S 0.00139776 50 chr2:216299547:G:A 7341_149_50_P->L 0.000199681 50 chr2:216300383:C:T 7341_143_48_S->N 0.000199681 50 chr2:216300405:A:C 7341_121_41_S->A 0.00658946 50 chr2:216300417:C:T 7341_109_37_V->I 0.000199681 50 chr2:216300470:G:A 7341_56_19_T->I 0.0081869 50 chr2:216300482:T:A 7341_44_15_Q->L 0.204872 50 chr2:216300486:C:G 7341_40_14_V->L 0.00479233 50 chr2:216300497:A:G 7341_29_10_L->P 0.000199681 50 na12878 Variants: 50 chr2:216235089:C:T 7341_6688_2230_V->I 50 chr2:216272900:T:G 7341_2449_817_T->P 50 chr2:216300482:T:A 7341_44_15_Q->L 50 snyder Variants: 50 chr2:216235089:C:T 7341_6688_2230_V->I 50 chr2:216272900:T:G 7341_2449_817_T->P 50 chr2:216300482:T:A 7341_44_15_Q->L 51 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000336916 gene_Name: FINC_HUMAN 51 list of pdbs: 51 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 51 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 51 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 51 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 51 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 51 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 51 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 51 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 51 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 51 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 51 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 51 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 51 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 51 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 51 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 51 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 51 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 51 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 51 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 51 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 51 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 51 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 51 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 51 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 51 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 51 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 51 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 51 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 51 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 51 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 51 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 51 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 51 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 51 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 51 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 51 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 51 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 51 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 51 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 51 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 51 Zimmer Variants: 51 chr2:216235089:C:T 7068_6415_2139_V->I 51 chr2:216272900:T:G 7068_2449_817_T->P 51 chr2:216300482:T:A 7068_44_15_Q->L 51 HGMD Variants: 51 chr2:216240408:A:C 7068_5648_1883_L->R 51 chr2:216241335:A:T 7068_5500_1834_W->R 51 chr2:216259404:C:T 7068_3643_1215_G->S 51 chr2:216262472:C:T 7068_3448_1150_V->I 51 chr2:216271029:T:C 7068_2918_973_Y->C 51 oneKG Variants: 51 chr2:216245729:G:A 7068_4966_1656_Q->* 0.000199681 51 chr2:216226285:C:T 7068_7061_2354_R->Q 0.000798722 51 chr2:216226780:C:T 7068_6908_2303_R->H 0.000199681 51 chr2:216226802:C:T 7068_6886_2296_G->S 0.000199681 51 chr2:216229670:C:T 7068_6817_2273_V->I 0.000199681 51 chr2:216230302:C:T 7068_6704_2235_R->H 0.000199681 51 chr2:216232654:T:A 7068_6584_2195_E->V 0.000199681 51 chr2:216232681:A:G 7068_6557_2186_V->A 0.00339457 51 chr2:216232682:C:T 7068_6556_2186_V->I 0.000199681 51 chr2:216232706:G:A 7068_6532_2178_P->S 0.000199681 51 chr2:216232717:G:A 7068_6521_2174_S->L 0.000399361 51 chr2:216235029:C:T 7068_6475_2159_V->M 0.000199681 51 chr2:216235046:C:T 7068_6458_2153_R->Q 0.0351438 51 chr2:216235089:C:T 7068_6415_2139_V->I 0.0002 51 chr2:216236639:G:C 7068_6341_2114_P->R 0.000199681 51 chr2:216236711:A:G 7068_6269_2090_I->T 0.000199681 51 chr2:216236712:T:C 7068_6268_2090_I->V 0.0159744 51 chr2:216236736:G:T 7068_6244_2082_Q->K 0.000199681 51 chr2:216236879:G:A 7068_6194_2065_T->M 0.000199681 51 chr2:216236888:G:A 7068_6185_2062_P->L 0.000199681 51 chr2:216236897:C:T 7068_6176_2059_R->Q 0.000199681 51 chr2:216236998:G:T 7068_6075_2025_H->Q 0.000199681 51 chr2:216237006:C:T 7068_6067_2023_V->I 0.000199681 51 chr2:216240021:T:C 7068_5800_1934_I->V 0.000199681 51 chr2:216240041:C:T 7068_5780_1927_R->H 0.000399361 51 chr2:216240093:G:A 7068_5728_1910_R->C 0.000199681 51 chr2:216240111:C:T 7068_5710_1904_D->N 0.000399361 51 chr2:216240113:A:G 7068_5708_1903_I->T 0.000199681 51 chr2:216240361:C:T 7068_5695_1899_A->T 0.000199681 51 chr2:216240375:G:T 7068_5681_1894_P->H 0.00179712 51 chr2:216241271:G:A 7068_5564_1855_T->I 0.000399361 51 chr2:216241343:G:T 7068_5492_1831_T->N 0.000199681 51 chr2:216241347:T:A 7068_5488_1830_I->F 0.000798722 51 chr2:216241388:G:A 7068_5447_1816_P->L 0.000399361 51 chr2:216242938:C:G 7068_5397_1799_L->F 0.000199681 51 chr2:216242949:T:C 7068_5386_1796_K->E 0.000199681 51 chr2:216242957:T:C 7068_5378_1793_Y->C 0.000399361 51 chr2:216243854:A:G 7068_5348_1783_M->T 0.000199681 51 chr2:216243867:C:A 7068_5335_1779_V->L 0.000199681 51 chr2:216243897:T:G 7068_5305_1769_N->H 0.000199681 51 chr2:216243938:C:T 7068_5264_1755_R->Q 0.000199681 51 chr2:216243993:T:C 7068_5209_1737_S->G 0.000399361 51 chr2:216245569:A:G 7068_5126_1709_M->T 0.000199681 51 chr2:216245687:C:T 7068_5008_1670_E->K 0.000199681 51 chr2:216245792:G:T 7068_4903_1635_P->T 0.000199681 51 chr2:216247031:T:C 7068_4795_1599_I->V 0.000199681 51 chr2:216248068:G:A 7068_4760_1587_T->I 0.000199681 51 chr2:216248132:T:C 7068_4696_1566_S->G 0.000199681 51 chr2:216248174:C:T 7068_4654_1552_D->N 0.000199681 51 chr2:216248812:C:T 7068_4552_1518_V->M 0.000199681 51 chr2:216248836:G:A 7068_4528_1510_P->S 0.000399361 51 chr2:216248878:C:T 7068_4486_1496_V->M 0.000998403 51 chr2:216248902:T:C 7068_4462_1488_N->D 0.000199681 51 chr2:216249655:T:C 7068_4384_1462_T->A 0.000199681 51 chr2:216249658:G:C 7068_4381_1461_P->A 0.000199681 51 chr2:216249663:G:A 7068_4376_1459_A->V 0.000199681 51 chr2:216249687:G:A 7068_4352_1451_P->L 0.000199681 51 chr2:216251421:G:T 7068_4330_1444_Q->K 0.000199681 51 chr2:216251465:A:C 7068_4286_1429_V->G 0.0 51 chr2:216251538:G:A 7068_4213_1405_R->W 0.00279553 51 chr2:216251580:G:A 7068_4171_1391_R->C 0.00139776 51 chr2:216251630:A:G 7068_4121_1374_F->S 0.000199681 51 chr2:216251667:T:C 7068_4084_1362_T->A 0.000199681 51 chr2:216256388:T:C 7068_3946_1316_I->V 0.00479233 51 chr2:216256394:A:C 7068_3940_1314_L->V 0.000399361 51 chr2:216256402:A:G 7068_3932_1311_V->A 0.000199681 51 chr2:216259262:G:T 7068_3785_1262_T->N 0.000199681 51 chr2:216259357:G:T 7068_3690_1230_S->R 0.000199681 51 chr2:216261932:T:C 7068_3532_1178_T->A 0.00139776 51 chr2:216262429:G:A 7068_3491_1164_A->V 0.000399361 51 chr2:216262454:G:C 7068_3466_1156_L->V 0.000199681 51 chr2:216262505:C:T 7068_3415_1139_V->I 0.000199681 51 chr2:216262556:T:G 7068_3364_1122_S->R 0.000199681 51 chr2:216264005:G:A 7068_3323_1108_T->M 0.000199681 51 chr2:216264021:T:G 7068_3307_1103_I->L 0.00838658 51 chr2:216264069:G:A 7068_3259_1087_P->S 0.000199681 51 chr2:216269133:C:T 7068_3232_1078_A->T 0.000199681 51 chr2:216269166:C:T 7068_3199_1067_V->M 0.000199681 51 chr2:216269207:A:T 7068_3158_1053_L->Q 0.000199681 51 chr2:216269235:C:T 7068_3130_1044_V->M 0.000599042 51 chr2:216269247:T:C 7068_3118_1040_R->G 0.00159744 51 chr2:216271068:G:C 7068_2879_960_T->S 0.000199681 51 chr2:216271170:A:G 7068_2777_926_M->T 0.000199681 51 chr2:216272843:C:A 7068_2506_836_A->S 0.000199681 51 chr2:216272900:T:G 7068_2449_817_T->P 0.0002 51 chr2:216272920:G:A 7068_2429_810_A->V 0.000199681 51 chr2:216273090:T:A 7068_2359_787_I->F 0.000399361 51 chr2:216274415:T:C 7068_2170_724_T->A 0.000199681 51 chr2:216274441:G:A 7068_2144_715_T->M 0.00119808 51 chr2:216274454:C:T 7068_2131_711_V->M 0.000199681 51 chr2:216274456:G:A 7068_2129_710_T->I 0.00638978 51 chr2:216274797:C:T 7068_1982_661_G->D 0.000199681 51 chr2:216274812:T:G 7068_1967_656_E->A 0.000199681 51 chr2:216279624:T:C 7068_1877_626_H->R 0.000199681 51 chr2:216279628:A:T 7068_1873_625_S->T 0.000199681 51 chr2:216279642:G:A 7068_1859_620_P->L 0.0 51 chr2:216284003:A:G 7068_1781_594_I->T 0.000399361 51 chr2:216284009:C:T 7068_1775_592_R->H 0.000599042 51 chr2:216284069:A:G 7068_1715_572_I->T 0.000599042 51 chr2:216284099:T:G 7068_1685_562_Q->P 0.000199681 51 chr2:216285446:T:C 7068_1625_542_N->S 0.000199681 51 chr2:216286852:C:T 7068_1508_503_R->H 0.000199681 51 chr2:216286912:T:C 7068_1448_483_Q->R 0.000199681 51 chr2:216288219:T:C 7068_1247_416_N->S 0.000599042 51 chr2:216288896:T:C 7068_1189_397_K->E 0.000199681 51 chr2:216289012:T:C 7068_1073_358_E->G 0.000399361 51 chr2:216289015:C:T 7068_1070_357_G->E 0.00119808 51 chr2:216289819:G:A 7068_1034_345_T->I 0.000199681 51 chr2:216292996:T:A 7068_751_251_N->Y 0.000199681 51 chr2:216293022:A:G 7068_725_242_I->T 0.000199681 51 chr2:216295531:C:T 7068_592_198_G->R 0.000199681 51 chr2:216296589:T:C 7068_514_172_N->D 0.000399361 51 chr2:216296636:C:G 7068_467_156_R->T 0.000199681 51 chr2:216298050:C:T 7068_412_138_A->T 0.000199681 51 chr2:216298059:A:G 7068_403_135_C->R 0.000199681 51 chr2:216298080:C:T 7068_382_128_A->T 0.000199681 51 chr2:216298149:T:G 7068_313_105_T->P 0.000199681 51 chr2:216299481:T:C 7068_215_72_N->S 0.000199681 51 chr2:216299494:T:A 7068_202_68_T->S 0.00139776 51 chr2:216299547:G:A 7068_149_50_P->L 0.000199681 51 chr2:216300383:C:T 7068_143_48_S->N 0.000199681 51 chr2:216300405:A:C 7068_121_41_S->A 0.00658946 51 chr2:216300417:C:T 7068_109_37_V->I 0.000199681 51 chr2:216300470:G:A 7068_56_19_T->I 0.0081869 51 chr2:216300482:T:A 7068_44_15_Q->L 0.204872 51 chr2:216300486:C:G 7068_40_14_V->L 0.00479233 51 chr2:216300497:A:G 7068_29_10_L->P 0.000199681 51 na12878 Variants: 51 chr2:216235089:C:T 7068_6415_2139_V->I 51 chr2:216272900:T:G 7068_2449_817_T->P 51 chr2:216300482:T:A 7068_44_15_Q->L 51 snyder Variants: 51 chr2:216235089:C:T 7068_6415_2139_V->I 51 chr2:216272900:T:G 7068_2449_817_T->P 51 chr2:216300482:T:A 7068_44_15_Q->L 52 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000357867 gene_Name: FINC_HUMAN 52 list of pdbs: 52 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 52 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 52 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 52 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 52 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 52 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 52 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 52 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 52 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 52 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 52 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 52 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 52 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 52 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 52 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 52 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 52 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 52 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 52 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 52 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 52 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 52 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 52 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 52 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 52 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 52 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 52 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 52 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 52 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 52 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 52 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 52 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 52 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 52 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 52 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 52 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 52 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 52 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 52 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 52 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 52 Zimmer Variants: 52 chr2:216235089:C:T 6531_5878_1960_V->I 52 chr2:216272900:T:G 6531_2449_817_T->P 52 chr2:216300482:T:A 6531_44_15_Q->L 52 HGMD Variants: 52 chr2:216240408:A:C 6531_5378_1793_L->R 52 chr2:216241335:A:T 6531_5230_1744_W->R 52 chr2:216259404:C:T 6531_3643_1215_G->S 52 chr2:216262472:C:T 6531_3448_1150_V->I 52 chr2:216271029:T:C 6531_2918_973_Y->C 52 oneKG Variants: 52 chr2:216226285:C:T 6531_6524_2175_R->Q 0.000798722 52 chr2:216226780:C:T 6531_6371_2124_R->H 0.000199681 52 chr2:216226802:C:T 6531_6349_2117_G->S 0.000199681 52 chr2:216229670:C:T 6531_6280_2094_V->I 0.000199681 52 chr2:216230302:C:T 6531_6167_2056_R->H 0.000199681 52 chr2:216232654:T:A 6531_6047_2016_E->V 0.000199681 52 chr2:216232681:A:G 6531_6020_2007_V->A 0.00339457 52 chr2:216232682:C:T 6531_6019_2007_V->I 0.000199681 52 chr2:216232706:G:A 6531_5995_1999_P->S 0.000199681 52 chr2:216232717:G:A 6531_5984_1995_S->L 0.000399361 52 chr2:216235029:C:T 6531_5938_1980_V->M 0.000199681 52 chr2:216235046:C:T 6531_5921_1974_R->Q 0.0351438 52 chr2:216235089:C:T 6531_5878_1960_V->I 0.0002 52 chr2:216236639:G:C 6531_5804_1935_P->R 0.000199681 52 chr2:216236711:A:G 6531_5732_1911_I->T 0.000199681 52 chr2:216236712:T:C 6531_5731_1911_I->V 0.0159744 52 chr2:216236736:G:T 6531_5707_1903_Q->K 0.000199681 52 chr2:216240021:T:C 6531_5530_1844_I->V 0.000199681 52 chr2:216240041:C:T 6531_5510_1837_R->H 0.000399361 52 chr2:216240093:G:A 6531_5458_1820_R->C 0.000199681 52 chr2:216240111:C:T 6531_5440_1814_D->N 0.000399361 52 chr2:216240113:A:G 6531_5438_1813_I->T 0.000199681 52 chr2:216240361:C:T 6531_5425_1809_A->T 0.000199681 52 chr2:216240375:G:T 6531_5411_1804_P->H 0.00179712 52 chr2:216241271:G:A 6531_5294_1765_T->I 0.000399361 52 chr2:216241343:G:T 6531_5222_1741_T->N 0.000199681 52 chr2:216241347:T:A 6531_5218_1740_I->F 0.000798722 52 chr2:216241388:G:A 6531_5177_1726_P->L 0.000399361 52 chr2:216242938:C:G 6531_5127_1709_L->F 0.000199681 52 chr2:216242949:T:C 6531_5116_1706_K->E 0.000199681 52 chr2:216242957:T:C 6531_5108_1703_Y->C 0.000399361 52 chr2:216243854:A:G 6531_5078_1693_M->T 0.000199681 52 chr2:216243867:C:A 6531_5065_1689_V->L 0.000199681 52 chr2:216243897:T:G 6531_5035_1679_N->H 0.000199681 52 chr2:216243938:C:T 6531_4994_1665_R->Q 0.000199681 52 chr2:216243993:T:C 6531_4939_1647_S->G 0.000399361 52 chr2:216247031:T:C 6531_4795_1599_I->V 0.000199681 52 chr2:216248068:G:A 6531_4760_1587_T->I 0.000199681 52 chr2:216248132:T:C 6531_4696_1566_S->G 0.000199681 52 chr2:216248174:C:T 6531_4654_1552_D->N 0.000199681 52 chr2:216248812:C:T 6531_4552_1518_V->M 0.000199681 52 chr2:216248836:G:A 6531_4528_1510_P->S 0.000399361 52 chr2:216248878:C:T 6531_4486_1496_V->M 0.000998403 52 chr2:216248902:T:C 6531_4462_1488_N->D 0.000199681 52 chr2:216249655:T:C 6531_4384_1462_T->A 0.000199681 52 chr2:216249658:G:C 6531_4381_1461_P->A 0.000199681 52 chr2:216249663:G:A 6531_4376_1459_A->V 0.000199681 52 chr2:216249687:G:A 6531_4352_1451_P->L 0.000199681 52 chr2:216251421:G:T 6531_4330_1444_Q->K 0.000199681 52 chr2:216251465:A:C 6531_4286_1429_V->G 0.0 52 chr2:216251538:G:A 6531_4213_1405_R->W 0.00279553 52 chr2:216251580:G:A 6531_4171_1391_R->C 0.00139776 52 chr2:216251630:A:G 6531_4121_1374_F->S 0.000199681 52 chr2:216251667:T:C 6531_4084_1362_T->A 0.000199681 52 chr2:216256388:T:C 6531_3946_1316_I->V 0.00479233 52 chr2:216256394:A:C 6531_3940_1314_L->V 0.000399361 52 chr2:216256402:A:G 6531_3932_1311_V->A 0.000199681 52 chr2:216259262:G:T 6531_3785_1262_T->N 0.000199681 52 chr2:216259357:G:T 6531_3690_1230_S->R 0.000199681 52 chr2:216261932:T:C 6531_3532_1178_T->A 0.00139776 52 chr2:216262429:G:A 6531_3491_1164_A->V 0.000399361 52 chr2:216262454:G:C 6531_3466_1156_L->V 0.000199681 52 chr2:216262505:C:T 6531_3415_1139_V->I 0.000199681 52 chr2:216262556:T:G 6531_3364_1122_S->R 0.000199681 52 chr2:216264005:G:A 6531_3323_1108_T->M 0.000199681 52 chr2:216264021:T:G 6531_3307_1103_I->L 0.00838658 52 chr2:216264069:G:A 6531_3259_1087_P->S 0.000199681 52 chr2:216269133:C:T 6531_3232_1078_A->T 0.000199681 52 chr2:216269166:C:T 6531_3199_1067_V->M 0.000199681 52 chr2:216269207:A:T 6531_3158_1053_L->Q 0.000199681 52 chr2:216269235:C:T 6531_3130_1044_V->M 0.000599042 52 chr2:216269247:T:C 6531_3118_1040_R->G 0.00159744 52 chr2:216271068:G:C 6531_2879_960_T->S 0.000199681 52 chr2:216271170:A:G 6531_2777_926_M->T 0.000199681 52 chr2:216272843:C:A 6531_2506_836_A->S 0.000199681 52 chr2:216272900:T:G 6531_2449_817_T->P 0.0002 52 chr2:216272920:G:A 6531_2429_810_A->V 0.000199681 52 chr2:216273090:T:A 6531_2359_787_I->F 0.000399361 52 chr2:216274415:T:C 6531_2170_724_T->A 0.000199681 52 chr2:216274441:G:A 6531_2144_715_T->M 0.00119808 52 chr2:216274454:C:T 6531_2131_711_V->M 0.000199681 52 chr2:216274456:G:A 6531_2129_710_T->I 0.00638978 52 chr2:216274797:C:T 6531_1982_661_G->D 0.000199681 52 chr2:216274812:T:G 6531_1967_656_E->A 0.000199681 52 chr2:216279624:T:C 6531_1877_626_H->R 0.000199681 52 chr2:216279628:A:T 6531_1873_625_S->T 0.000199681 52 chr2:216279642:G:A 6531_1859_620_P->L 0.0 52 chr2:216284003:A:G 6531_1781_594_I->T 0.000399361 52 chr2:216284009:C:T 6531_1775_592_R->H 0.000599042 52 chr2:216284069:A:G 6531_1715_572_I->T 0.000599042 52 chr2:216284099:T:G 6531_1685_562_Q->P 0.000199681 52 chr2:216285446:T:C 6531_1625_542_N->S 0.000199681 52 chr2:216286852:C:T 6531_1508_503_R->H 0.000199681 52 chr2:216286912:T:C 6531_1448_483_Q->R 0.000199681 52 chr2:216288219:T:C 6531_1247_416_N->S 0.000599042 52 chr2:216288896:T:C 6531_1189_397_K->E 0.000199681 52 chr2:216289012:T:C 6531_1073_358_E->G 0.000399361 52 chr2:216289015:C:T 6531_1070_357_G->E 0.00119808 52 chr2:216289819:G:A 6531_1034_345_T->I 0.000199681 52 chr2:216292996:T:A 6531_751_251_N->Y 0.000199681 52 chr2:216293022:A:G 6531_725_242_I->T 0.000199681 52 chr2:216295531:C:T 6531_592_198_G->R 0.000199681 52 chr2:216296589:T:C 6531_514_172_N->D 0.000399361 52 chr2:216296636:C:G 6531_467_156_R->T 0.000199681 52 chr2:216298050:C:T 6531_412_138_A->T 0.000199681 52 chr2:216298059:A:G 6531_403_135_C->R 0.000199681 52 chr2:216298080:C:T 6531_382_128_A->T 0.000199681 52 chr2:216298149:T:G 6531_313_105_T->P 0.000199681 52 chr2:216299481:T:C 6531_215_72_N->S 0.000199681 52 chr2:216299494:T:A 6531_202_68_T->S 0.00139776 52 chr2:216299547:G:A 6531_149_50_P->L 0.000199681 52 chr2:216300383:C:T 6531_143_48_S->N 0.000199681 52 chr2:216300405:A:C 6531_121_41_S->A 0.00658946 52 chr2:216300417:C:T 6531_109_37_V->I 0.000199681 52 chr2:216300470:G:A 6531_56_19_T->I 0.0081869 52 chr2:216300482:T:A 6531_44_15_Q->L 0.204872 52 chr2:216300486:C:G 6531_40_14_V->L 0.00479233 52 chr2:216300497:A:G 6531_29_10_L->P 0.000199681 52 na12878 Variants: 52 chr2:216235089:C:T 6531_5878_1960_V->I 52 chr2:216272900:T:G 6531_2449_817_T->P 52 chr2:216300482:T:A 6531_44_15_Q->L 52 snyder Variants: 52 chr2:216235089:C:T 6531_5878_1960_V->I 52 chr2:216272900:T:G 6531_2449_817_T->P 52 chr2:216300482:T:A 6531_44_15_Q->L 53 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000354785 gene_Name: FINC_HUMAN 53 list of pdbs: 53 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 53 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 53 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 53 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 53 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 53 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 53 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 53 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 53 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 53 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 53 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 53 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 53 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 53 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 53 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 53 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 53 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 53 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 53 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 53 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 53 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 53 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 53 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 53 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 53 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 53 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 53 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 53 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 53 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 53 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 53 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 53 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 53 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 53 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 53 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 53 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 53 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 53 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 53 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 53 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 53 Zimmer Variants: 53 chr2:216235089:C:T 7434_6781_2261_V->I 53 chr2:216272900:T:G 7434_2449_817_T->P 53 chr2:216300482:T:A 7434_44_15_Q->L 53 HGMD Variants: 53 chr2:216240408:A:C 7434_5921_1974_L->R 53 chr2:216241335:A:T 7434_5773_1925_W->R 53 chr2:216259404:C:T 7434_3643_1215_G->S 53 chr2:216262472:C:T 7434_3448_1150_V->I 53 chr2:216271029:T:C 7434_2918_973_Y->C 53 oneKG Variants: 53 chr2:216245729:G:A 7434_5239_1747_Q->* 0.000199681 53 chr2:216226285:C:T 7434_7427_2476_R->Q 0.000798722 53 chr2:216226780:C:T 7434_7274_2425_R->H 0.000199681 53 chr2:216226802:C:T 7434_7252_2418_G->S 0.000199681 53 chr2:216229670:C:T 7434_7183_2395_V->I 0.000199681 53 chr2:216230302:C:T 7434_7070_2357_R->H 0.000199681 53 chr2:216232654:T:A 7434_6950_2317_E->V 0.000199681 53 chr2:216232681:A:G 7434_6923_2308_V->A 0.00339457 53 chr2:216232682:C:T 7434_6922_2308_V->I 0.000199681 53 chr2:216232706:G:A 7434_6898_2300_P->S 0.000199681 53 chr2:216232717:G:A 7434_6887_2296_S->L 0.000399361 53 chr2:216235029:C:T 7434_6841_2281_V->M 0.000199681 53 chr2:216235046:C:T 7434_6824_2275_R->Q 0.0351438 53 chr2:216235089:C:T 7434_6781_2261_V->I 0.0002 53 chr2:216236639:G:C 7434_6707_2236_P->R 0.000199681 53 chr2:216236711:A:G 7434_6635_2212_I->T 0.000199681 53 chr2:216236712:T:C 7434_6634_2212_I->V 0.0159744 53 chr2:216236736:G:T 7434_6610_2204_Q->K 0.000199681 53 chr2:216236762:C:T 7434_6584_2195_G->E 0.000399361 53 chr2:216236765:G:A 7434_6581_2194_P->L 0.000399361 53 chr2:216236825:T:C 7434_6521_2174_E->G 0.000199681 53 chr2:216236879:G:A 7434_6467_2156_T->M 0.000199681 53 chr2:216236888:G:A 7434_6458_2153_P->L 0.000199681 53 chr2:216236897:C:T 7434_6449_2150_R->Q 0.000199681 53 chr2:216236998:G:T 7434_6348_2116_H->Q 0.000199681 53 chr2:216237006:C:T 7434_6340_2114_V->I 0.000199681 53 chr2:216240021:T:C 7434_6073_2025_I->V 0.000199681 53 chr2:216240041:C:T 7434_6053_2018_R->H 0.000399361 53 chr2:216240093:G:A 7434_6001_2001_R->C 0.000199681 53 chr2:216240111:C:T 7434_5983_1995_D->N 0.000399361 53 chr2:216240113:A:G 7434_5981_1994_I->T 0.000199681 53 chr2:216240361:C:T 7434_5968_1990_A->T 0.000199681 53 chr2:216240375:G:T 7434_5954_1985_P->H 0.00179712 53 chr2:216241271:G:A 7434_5837_1946_T->I 0.000399361 53 chr2:216241343:G:T 7434_5765_1922_T->N 0.000199681 53 chr2:216241347:T:A 7434_5761_1921_I->F 0.000798722 53 chr2:216241388:G:A 7434_5720_1907_P->L 0.000399361 53 chr2:216242938:C:G 7434_5670_1890_L->F 0.000199681 53 chr2:216242949:T:C 7434_5659_1887_K->E 0.000199681 53 chr2:216242957:T:C 7434_5651_1884_Y->C 0.000399361 53 chr2:216243854:A:G 7434_5621_1874_M->T 0.000199681 53 chr2:216243867:C:A 7434_5608_1870_V->L 0.000199681 53 chr2:216243897:T:G 7434_5578_1860_N->H 0.000199681 53 chr2:216243938:C:T 7434_5537_1846_R->Q 0.000199681 53 chr2:216243993:T:C 7434_5482_1828_S->G 0.000399361 53 chr2:216245569:A:G 7434_5399_1800_M->T 0.000199681 53 chr2:216245687:C:T 7434_5281_1761_E->K 0.000199681 53 chr2:216245792:G:T 7434_5176_1726_P->T 0.000199681 53 chr2:216247031:T:C 7434_5068_1690_I->V 0.000199681 53 chr2:216248068:G:A 7434_5033_1678_T->I 0.000199681 53 chr2:216248132:T:C 7434_4969_1657_S->G 0.000199681 53 chr2:216248174:C:T 7434_4927_1643_D->N 0.000199681 53 chr2:216248812:C:T 7434_4825_1609_V->M 0.000199681 53 chr2:216248836:G:A 7434_4801_1601_P->S 0.000399361 53 chr2:216248878:C:T 7434_4759_1587_V->M 0.000998403 53 chr2:216248902:T:C 7434_4735_1579_N->D 0.000199681 53 chr2:216249655:T:C 7434_4657_1553_T->A 0.000199681 53 chr2:216249658:G:C 7434_4654_1552_P->A 0.000199681 53 chr2:216249663:G:A 7434_4649_1550_A->V 0.000199681 53 chr2:216249687:G:A 7434_4625_1542_P->L 0.000199681 53 chr2:216251421:G:T 7434_4603_1535_Q->K 0.000199681 53 chr2:216251465:A:C 7434_4559_1520_V->G 0.0 53 chr2:216251538:G:A 7434_4486_1496_R->W 0.00279553 53 chr2:216251580:G:A 7434_4444_1482_R->C 0.00139776 53 chr2:216251630:A:G 7434_4394_1465_F->S 0.000199681 53 chr2:216251667:T:C 7434_4357_1453_T->A 0.000199681 53 chr2:216256388:T:C 7434_4219_1407_I->V 0.00479233 53 chr2:216256394:A:C 7434_4213_1405_L->V 0.000399361 53 chr2:216256402:A:G 7434_4205_1402_V->A 0.000199681 53 chr2:216257690:C:T 7434_4033_1345_G->S 0.000199681 53 chr2:216257711:C:T 7434_4012_1338_V->I 0.000199681 53 chr2:216257717:T:C 7434_4006_1336_I->V 0.000199681 53 chr2:216257753:T:C 7434_3970_1324_T->A 0.000199681 53 chr2:216257755:T:C 7434_3968_1323_Y->C 0.000199681 53 chr2:216257770:G:C 7434_3953_1318_S->C 0.000199681 53 chr2:216257828:G:A 7434_3895_1299_R->C 0.000199681 53 chr2:216259262:G:T 7434_3785_1262_T->N 0.000199681 53 chr2:216259357:G:T 7434_3690_1230_S->R 0.000199681 53 chr2:216261932:T:C 7434_3532_1178_T->A 0.00139776 53 chr2:216262429:G:A 7434_3491_1164_A->V 0.000399361 53 chr2:216262454:G:C 7434_3466_1156_L->V 0.000199681 53 chr2:216262505:C:T 7434_3415_1139_V->I 0.000199681 53 chr2:216262556:T:G 7434_3364_1122_S->R 0.000199681 53 chr2:216264005:G:A 7434_3323_1108_T->M 0.000199681 53 chr2:216264021:T:G 7434_3307_1103_I->L 0.00838658 53 chr2:216264069:G:A 7434_3259_1087_P->S 0.000199681 53 chr2:216269133:C:T 7434_3232_1078_A->T 0.000199681 53 chr2:216269166:C:T 7434_3199_1067_V->M 0.000199681 53 chr2:216269207:A:T 7434_3158_1053_L->Q 0.000199681 53 chr2:216269235:C:T 7434_3130_1044_V->M 0.000599042 53 chr2:216269247:T:C 7434_3118_1040_R->G 0.00159744 53 chr2:216271068:G:C 7434_2879_960_T->S 0.000199681 53 chr2:216271170:A:G 7434_2777_926_M->T 0.000199681 53 chr2:216272843:C:A 7434_2506_836_A->S 0.000199681 53 chr2:216272900:T:G 7434_2449_817_T->P 0.0002 53 chr2:216272920:G:A 7434_2429_810_A->V 0.000199681 53 chr2:216273090:T:A 7434_2359_787_I->F 0.000399361 53 chr2:216274415:T:C 7434_2170_724_T->A 0.000199681 53 chr2:216274441:G:A 7434_2144_715_T->M 0.00119808 53 chr2:216274454:C:T 7434_2131_711_V->M 0.000199681 53 chr2:216274456:G:A 7434_2129_710_T->I 0.00638978 53 chr2:216274797:C:T 7434_1982_661_G->D 0.000199681 53 chr2:216274812:T:G 7434_1967_656_E->A 0.000199681 53 chr2:216279624:T:C 7434_1877_626_H->R 0.000199681 53 chr2:216279628:A:T 7434_1873_625_S->T 0.000199681 53 chr2:216279642:G:A 7434_1859_620_P->L 0.0 53 chr2:216284003:A:G 7434_1781_594_I->T 0.000399361 53 chr2:216284009:C:T 7434_1775_592_R->H 0.000599042 53 chr2:216284069:A:G 7434_1715_572_I->T 0.000599042 53 chr2:216284099:T:G 7434_1685_562_Q->P 0.000199681 53 chr2:216285446:T:C 7434_1625_542_N->S 0.000199681 53 chr2:216286852:C:T 7434_1508_503_R->H 0.000199681 53 chr2:216286912:T:C 7434_1448_483_Q->R 0.000199681 53 chr2:216288219:T:C 7434_1247_416_N->S 0.000599042 53 chr2:216288896:T:C 7434_1189_397_K->E 0.000199681 53 chr2:216289012:T:C 7434_1073_358_E->G 0.000399361 53 chr2:216289015:C:T 7434_1070_357_G->E 0.00119808 53 chr2:216289819:G:A 7434_1034_345_T->I 0.000199681 53 chr2:216292996:T:A 7434_751_251_N->Y 0.000199681 53 chr2:216293022:A:G 7434_725_242_I->T 0.000199681 53 chr2:216295531:C:T 7434_592_198_G->R 0.000199681 53 chr2:216296589:T:C 7434_514_172_N->D 0.000399361 53 chr2:216296636:C:G 7434_467_156_R->T 0.000199681 53 chr2:216298050:C:T 7434_412_138_A->T 0.000199681 53 chr2:216298059:A:G 7434_403_135_C->R 0.000199681 53 chr2:216298080:C:T 7434_382_128_A->T 0.000199681 53 chr2:216298149:T:G 7434_313_105_T->P 0.000199681 53 chr2:216299481:T:C 7434_215_72_N->S 0.000199681 53 chr2:216299494:T:A 7434_202_68_T->S 0.00139776 53 chr2:216299547:G:A 7434_149_50_P->L 0.000199681 53 chr2:216300383:C:T 7434_143_48_S->N 0.000199681 53 chr2:216300405:A:C 7434_121_41_S->A 0.00658946 53 chr2:216300417:C:T 7434_109_37_V->I 0.000199681 53 chr2:216300470:G:A 7434_56_19_T->I 0.0081869 53 chr2:216300482:T:A 7434_44_15_Q->L 0.204872 53 chr2:216300486:C:G 7434_40_14_V->L 0.00479233 53 chr2:216300497:A:G 7434_29_10_L->P 0.000199681 53 na12878 Variants: 53 chr2:216235089:C:T 7434_6781_2261_V->I 53 chr2:216272900:T:G 7434_2449_817_T->P 53 chr2:216300482:T:A 7434_44_15_Q->L 53 snyder Variants: 53 chr2:216235089:C:T 7434_6781_2261_V->I 53 chr2:216272900:T:G 7434_2449_817_T->P 53 chr2:216300482:T:A 7434_44_15_Q->L 54 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000359671 gene_Name: FINC_HUMAN 54 list of pdbs: 54 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 54 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 54 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 54 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 54 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 54 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 54 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 54 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 54 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 54 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 54 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 54 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 54 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 54 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 54 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 54 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 54 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 54 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 54 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 54 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 54 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 54 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 54 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 54 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 54 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 54 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 54 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 54 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 54 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 54 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 54 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 54 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 54 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 54 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 54 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 54 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 54 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 54 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 54 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 54 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 54 Zimmer Variants: 54 chr2:216235089:C:T 7161_6508_2170_V->I 54 chr2:216272900:T:G 7161_2449_817_T->P 54 chr2:216300482:T:A 7161_44_15_Q->L 54 HGMD Variants: 54 chr2:216240408:A:C 7161_5648_1883_L->R 54 chr2:216241335:A:T 7161_5500_1834_W->R 54 chr2:216259404:C:T 7161_3643_1215_G->S 54 chr2:216262472:C:T 7161_3448_1150_V->I 54 chr2:216271029:T:C 7161_2918_973_Y->C 54 oneKG Variants: 54 chr2:216245729:G:A 7161_4966_1656_Q->* 0.000199681 54 chr2:216226285:C:T 7161_7154_2385_R->Q 0.000798722 54 chr2:216226780:C:T 7161_7001_2334_R->H 0.000199681 54 chr2:216226802:C:T 7161_6979_2327_G->S 0.000199681 54 chr2:216229670:C:T 7161_6910_2304_V->I 0.000199681 54 chr2:216230302:C:T 7161_6797_2266_R->H 0.000199681 54 chr2:216232654:T:A 7161_6677_2226_E->V 0.000199681 54 chr2:216232681:A:G 7161_6650_2217_V->A 0.00339457 54 chr2:216232682:C:T 7161_6649_2217_V->I 0.000199681 54 chr2:216232706:G:A 7161_6625_2209_P->S 0.000199681 54 chr2:216232717:G:A 7161_6614_2205_S->L 0.000399361 54 chr2:216235029:C:T 7161_6568_2190_V->M 0.000199681 54 chr2:216235046:C:T 7161_6551_2184_R->Q 0.0351438 54 chr2:216235089:C:T 7161_6508_2170_V->I 0.0002 54 chr2:216236639:G:C 7161_6434_2145_P->R 0.000199681 54 chr2:216236711:A:G 7161_6362_2121_I->T 0.000199681 54 chr2:216236712:T:C 7161_6361_2121_I->V 0.0159744 54 chr2:216236736:G:T 7161_6337_2113_Q->K 0.000199681 54 chr2:216236762:C:T 7161_6311_2104_G->E 0.000399361 54 chr2:216236765:G:A 7161_6308_2103_P->L 0.000399361 54 chr2:216236825:T:C 7161_6248_2083_E->G 0.000199681 54 chr2:216236879:G:A 7161_6194_2065_T->M 0.000199681 54 chr2:216236888:G:A 7161_6185_2062_P->L 0.000199681 54 chr2:216236897:C:T 7161_6176_2059_R->Q 0.000199681 54 chr2:216236998:G:T 7161_6075_2025_H->Q 0.000199681 54 chr2:216237006:C:T 7161_6067_2023_V->I 0.000199681 54 chr2:216240021:T:C 7161_5800_1934_I->V 0.000199681 54 chr2:216240041:C:T 7161_5780_1927_R->H 0.000399361 54 chr2:216240093:G:A 7161_5728_1910_R->C 0.000199681 54 chr2:216240111:C:T 7161_5710_1904_D->N 0.000399361 54 chr2:216240113:A:G 7161_5708_1903_I->T 0.000199681 54 chr2:216240361:C:T 7161_5695_1899_A->T 0.000199681 54 chr2:216240375:G:T 7161_5681_1894_P->H 0.00179712 54 chr2:216241271:G:A 7161_5564_1855_T->I 0.000399361 54 chr2:216241343:G:T 7161_5492_1831_T->N 0.000199681 54 chr2:216241347:T:A 7161_5488_1830_I->F 0.000798722 54 chr2:216241388:G:A 7161_5447_1816_P->L 0.000399361 54 chr2:216242938:C:G 7161_5397_1799_L->F 0.000199681 54 chr2:216242949:T:C 7161_5386_1796_K->E 0.000199681 54 chr2:216242957:T:C 7161_5378_1793_Y->C 0.000399361 54 chr2:216243854:A:G 7161_5348_1783_M->T 0.000199681 54 chr2:216243867:C:A 7161_5335_1779_V->L 0.000199681 54 chr2:216243897:T:G 7161_5305_1769_N->H 0.000199681 54 chr2:216243938:C:T 7161_5264_1755_R->Q 0.000199681 54 chr2:216243993:T:C 7161_5209_1737_S->G 0.000399361 54 chr2:216245569:A:G 7161_5126_1709_M->T 0.000199681 54 chr2:216245687:C:T 7161_5008_1670_E->K 0.000199681 54 chr2:216245792:G:T 7161_4903_1635_P->T 0.000199681 54 chr2:216247031:T:C 7161_4795_1599_I->V 0.000199681 54 chr2:216248068:G:A 7161_4760_1587_T->I 0.000199681 54 chr2:216248132:T:C 7161_4696_1566_S->G 0.000199681 54 chr2:216248174:C:T 7161_4654_1552_D->N 0.000199681 54 chr2:216248812:C:T 7161_4552_1518_V->M 0.000199681 54 chr2:216248836:G:A 7161_4528_1510_P->S 0.000399361 54 chr2:216248878:C:T 7161_4486_1496_V->M 0.000998403 54 chr2:216248902:T:C 7161_4462_1488_N->D 0.000199681 54 chr2:216249655:T:C 7161_4384_1462_T->A 0.000199681 54 chr2:216249658:G:C 7161_4381_1461_P->A 0.000199681 54 chr2:216249663:G:A 7161_4376_1459_A->V 0.000199681 54 chr2:216249687:G:A 7161_4352_1451_P->L 0.000199681 54 chr2:216251421:G:T 7161_4330_1444_Q->K 0.000199681 54 chr2:216251465:A:C 7161_4286_1429_V->G 0.0 54 chr2:216251538:G:A 7161_4213_1405_R->W 0.00279553 54 chr2:216251580:G:A 7161_4171_1391_R->C 0.00139776 54 chr2:216251630:A:G 7161_4121_1374_F->S 0.000199681 54 chr2:216251667:T:C 7161_4084_1362_T->A 0.000199681 54 chr2:216256388:T:C 7161_3946_1316_I->V 0.00479233 54 chr2:216256394:A:C 7161_3940_1314_L->V 0.000399361 54 chr2:216256402:A:G 7161_3932_1311_V->A 0.000199681 54 chr2:216259262:G:T 7161_3785_1262_T->N 0.000199681 54 chr2:216259357:G:T 7161_3690_1230_S->R 0.000199681 54 chr2:216261932:T:C 7161_3532_1178_T->A 0.00139776 54 chr2:216262429:G:A 7161_3491_1164_A->V 0.000399361 54 chr2:216262454:G:C 7161_3466_1156_L->V 0.000199681 54 chr2:216262505:C:T 7161_3415_1139_V->I 0.000199681 54 chr2:216262556:T:G 7161_3364_1122_S->R 0.000199681 54 chr2:216264005:G:A 7161_3323_1108_T->M 0.000199681 54 chr2:216264021:T:G 7161_3307_1103_I->L 0.00838658 54 chr2:216264069:G:A 7161_3259_1087_P->S 0.000199681 54 chr2:216269133:C:T 7161_3232_1078_A->T 0.000199681 54 chr2:216269166:C:T 7161_3199_1067_V->M 0.000199681 54 chr2:216269207:A:T 7161_3158_1053_L->Q 0.000199681 54 chr2:216269235:C:T 7161_3130_1044_V->M 0.000599042 54 chr2:216269247:T:C 7161_3118_1040_R->G 0.00159744 54 chr2:216271068:G:C 7161_2879_960_T->S 0.000199681 54 chr2:216271170:A:G 7161_2777_926_M->T 0.000199681 54 chr2:216272843:C:A 7161_2506_836_A->S 0.000199681 54 chr2:216272900:T:G 7161_2449_817_T->P 0.0002 54 chr2:216272920:G:A 7161_2429_810_A->V 0.000199681 54 chr2:216273090:T:A 7161_2359_787_I->F 0.000399361 54 chr2:216274415:T:C 7161_2170_724_T->A 0.000199681 54 chr2:216274441:G:A 7161_2144_715_T->M 0.00119808 54 chr2:216274454:C:T 7161_2131_711_V->M 0.000199681 54 chr2:216274456:G:A 7161_2129_710_T->I 0.00638978 54 chr2:216274797:C:T 7161_1982_661_G->D 0.000199681 54 chr2:216274812:T:G 7161_1967_656_E->A 0.000199681 54 chr2:216279624:T:C 7161_1877_626_H->R 0.000199681 54 chr2:216279628:A:T 7161_1873_625_S->T 0.000199681 54 chr2:216279642:G:A 7161_1859_620_P->L 0.0 54 chr2:216284003:A:G 7161_1781_594_I->T 0.000399361 54 chr2:216284009:C:T 7161_1775_592_R->H 0.000599042 54 chr2:216284069:A:G 7161_1715_572_I->T 0.000599042 54 chr2:216284099:T:G 7161_1685_562_Q->P 0.000199681 54 chr2:216285446:T:C 7161_1625_542_N->S 0.000199681 54 chr2:216286852:C:T 7161_1508_503_R->H 0.000199681 54 chr2:216286912:T:C 7161_1448_483_Q->R 0.000199681 54 chr2:216288219:T:C 7161_1247_416_N->S 0.000599042 54 chr2:216288896:T:C 7161_1189_397_K->E 0.000199681 54 chr2:216289012:T:C 7161_1073_358_E->G 0.000399361 54 chr2:216289015:C:T 7161_1070_357_G->E 0.00119808 54 chr2:216289819:G:A 7161_1034_345_T->I 0.000199681 54 chr2:216292996:T:A 7161_751_251_N->Y 0.000199681 54 chr2:216293022:A:G 7161_725_242_I->T 0.000199681 54 chr2:216295531:C:T 7161_592_198_G->R 0.000199681 54 chr2:216296589:T:C 7161_514_172_N->D 0.000399361 54 chr2:216296636:C:G 7161_467_156_R->T 0.000199681 54 chr2:216298050:C:T 7161_412_138_A->T 0.000199681 54 chr2:216298059:A:G 7161_403_135_C->R 0.000199681 54 chr2:216298080:C:T 7161_382_128_A->T 0.000199681 54 chr2:216298149:T:G 7161_313_105_T->P 0.000199681 54 chr2:216299481:T:C 7161_215_72_N->S 0.000199681 54 chr2:216299494:T:A 7161_202_68_T->S 0.00139776 54 chr2:216299547:G:A 7161_149_50_P->L 0.000199681 54 chr2:216300383:C:T 7161_143_48_S->N 0.000199681 54 chr2:216300405:A:C 7161_121_41_S->A 0.00658946 54 chr2:216300417:C:T 7161_109_37_V->I 0.000199681 54 chr2:216300470:G:A 7161_56_19_T->I 0.0081869 54 chr2:216300482:T:A 7161_44_15_Q->L 0.204872 54 chr2:216300486:C:G 7161_40_14_V->L 0.00479233 54 chr2:216300497:A:G 7161_29_10_L->P 0.000199681 54 na12878 Variants: 54 chr2:216235089:C:T 7161_6508_2170_V->I 54 chr2:216272900:T:G 7161_2449_817_T->P 54 chr2:216300482:T:A 7161_44_15_Q->L 54 snyder Variants: 54 chr2:216235089:C:T 7161_6508_2170_V->I 54 chr2:216272900:T:G 7161_2449_817_T->P 54 chr2:216300482:T:A 7161_44_15_Q->L 55 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000446046 gene_Name: FINC_HUMAN 55 list of pdbs: 55 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 55 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 55 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 55 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 55 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 55 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 55 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 55 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 55 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 55 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 55 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 55 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 55 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 55 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 55 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 55 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 55 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 55 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 55 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 55 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 55 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 55 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 55 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 55 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 55 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 55 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 55 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 55 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 55 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 55 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 55 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 55 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 55 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 55 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 55 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 55 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 55 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 55 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 55 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 55 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 55 Zimmer Variants: 55 chr2:216235089:C:T 6993_6340_2114_V->I;HUB=PPI;GNEG=Yes;GENE=FN1;CDSS=4;DBRECUR=FN1 55 chr2:216272900:T:G 6993_2449_817_T->P 55 chr2:216300482:T:A 6993_44_15_Q->L 55 HGMD Variants: 55 chr2:216240408:A:C 6993_5648_1883_L->R 55 chr2:216241335:A:T 6993_5500_1834_W->R 55 chr2:216259404:C:T 6993_3643_1215_G->S 55 chr2:216262472:C:T 6993_3448_1150_V->I 55 chr2:216271029:T:C 6993_2918_973_Y->C 55 oneKG Variants: 55 chr2:216245729:G:A 6993_4966_1656_Q->* 0.000199681 55 chr2:216226285:C:T 6993_6986_2329_R->Q 0.000798722 55 chr2:216226780:C:T 6993_6833_2278_R->H 0.000199681 55 chr2:216226802:C:T 6993_6811_2271_G->S 0.000199681 55 chr2:216229670:C:T 6993_6742_2248_V->I 0.000199681 55 chr2:216230302:C:T 6993_6629_2210_R->H 0.000199681 55 chr2:216232654:T:A 6993_6509_2170_E->V 0.000199681 55 chr2:216232681:A:G 6993_6482_2161_V->A 0.00339457 55 chr2:216232682:C:T 6993_6481_2161_V->I 0.000199681 55 chr2:216232706:G:A 6993_6457_2153_P->S 0.000199681 55 chr2:216232717:G:A 6993_6446_2149_S->L 0.000399361 55 chr2:216235029:C:T 6993_6400_2134_V->M 0.000199681 55 chr2:216235046:C:T 6993_6383_2128_R->Q 0.0351438 55 chr2:216235089:C:T 6993_6340_2114_V->I 0.0002 55 chr2:216236639:G:C 6993_6266_2089_P->R 0.000199681 55 chr2:216236711:A:G 6993_6194_2065_I->T 0.000199681 55 chr2:216236712:T:C 6993_6193_2065_I->V 0.0159744 55 chr2:216236736:G:T 6993_6169_2057_Q->K 0.000199681 55 chr2:216236879:G:A 6993_6119_2040_T->M 0.000199681 55 chr2:216236888:G:A 6993_6110_2037_P->L 0.000199681 55 chr2:216236897:C:T 6993_6101_2034_R->Q 0.000199681 55 chr2:216236998:G:T 6993_6000_2000_H->Q 0.000199681 55 chr2:216237006:C:T 6993_5992_1998_V->I 0.000199681 55 chr2:216240021:T:C 6993_5800_1934_I->V 0.000199681 55 chr2:216240041:C:T 6993_5780_1927_R->H 0.000399361 55 chr2:216240093:G:A 6993_5728_1910_R->C 0.000199681 55 chr2:216240111:C:T 6993_5710_1904_D->N 0.000399361 55 chr2:216240113:A:G 6993_5708_1903_I->T 0.000199681 55 chr2:216240361:C:T 6993_5695_1899_A->T 0.000199681 55 chr2:216240375:G:T 6993_5681_1894_P->H 0.00179712 55 chr2:216241271:G:A 6993_5564_1855_T->I 0.000399361 55 chr2:216241343:G:T 6993_5492_1831_T->N 0.000199681 55 chr2:216241347:T:A 6993_5488_1830_I->F 0.000798722 55 chr2:216241388:G:A 6993_5447_1816_P->L 0.000399361 55 chr2:216242938:C:G 6993_5397_1799_L->F 0.000199681 55 chr2:216242949:T:C 6993_5386_1796_K->E 0.000199681 55 chr2:216242957:T:C 6993_5378_1793_Y->C 0.000399361 55 chr2:216243854:A:G 6993_5348_1783_M->T 0.000199681 55 chr2:216243867:C:A 6993_5335_1779_V->L 0.000199681 55 chr2:216243897:T:G 6993_5305_1769_N->H 0.000199681 55 chr2:216243938:C:T 6993_5264_1755_R->Q 0.000199681 55 chr2:216243993:T:C 6993_5209_1737_S->G 0.000399361 55 chr2:216245569:A:G 6993_5126_1709_M->T 0.000199681 55 chr2:216245687:C:T 6993_5008_1670_E->K 0.000199681 55 chr2:216245792:G:T 6993_4903_1635_P->T 0.000199681 55 chr2:216247031:T:C 6993_4795_1599_I->V 0.000199681 55 chr2:216248068:G:A 6993_4760_1587_T->I 0.000199681 55 chr2:216248132:T:C 6993_4696_1566_S->G 0.000199681 55 chr2:216248174:C:T 6993_4654_1552_D->N 0.000199681 55 chr2:216248812:C:T 6993_4552_1518_V->M 0.000199681 55 chr2:216248836:G:A 6993_4528_1510_P->S 0.000399361 55 chr2:216248878:C:T 6993_4486_1496_V->M 0.000998403 55 chr2:216248902:T:C 6993_4462_1488_N->D 0.000199681 55 chr2:216249655:T:C 6993_4384_1462_T->A 0.000199681 55 chr2:216249658:G:C 6993_4381_1461_P->A 0.000199681 55 chr2:216249663:G:A 6993_4376_1459_A->V 0.000199681 55 chr2:216249687:G:A 6993_4352_1451_P->L 0.000199681 55 chr2:216251421:G:T 6993_4330_1444_Q->K 0.000199681 55 chr2:216251465:A:C 6993_4286_1429_V->G 0.0 55 chr2:216251538:G:A 6993_4213_1405_R->W 0.00279553 55 chr2:216251580:G:A 6993_4171_1391_R->C 0.00139776 55 chr2:216251630:A:G 6993_4121_1374_F->S 0.000199681 55 chr2:216251667:T:C 6993_4084_1362_T->A 0.000199681 55 chr2:216256388:T:C 6993_3946_1316_I->V 0.00479233 55 chr2:216256394:A:C 6993_3940_1314_L->V 0.000399361 55 chr2:216256402:A:G 6993_3932_1311_V->A 0.000199681 55 chr2:216259262:G:T 6993_3785_1262_T->N 0.000199681 55 chr2:216259357:G:T 6993_3690_1230_S->R 0.000199681 55 chr2:216261932:T:C 6993_3532_1178_T->A 0.00139776 55 chr2:216262429:G:A 6993_3491_1164_A->V 0.000399361 55 chr2:216262454:G:C 6993_3466_1156_L->V 0.000199681 55 chr2:216262505:C:T 6993_3415_1139_V->I 0.000199681 55 chr2:216262556:T:G 6993_3364_1122_S->R 0.000199681 55 chr2:216264005:G:A 6993_3323_1108_T->M 0.000199681 55 chr2:216264021:T:G 6993_3307_1103_I->L 0.00838658 55 chr2:216264069:G:A 6993_3259_1087_P->S 0.000199681 55 chr2:216269133:C:T 6993_3232_1078_A->T 0.000199681 55 chr2:216269166:C:T 6993_3199_1067_V->M 0.000199681 55 chr2:216269207:A:T 6993_3158_1053_L->Q 0.000199681 55 chr2:216269235:C:T 6993_3130_1044_V->M 0.000599042 55 chr2:216269247:T:C 6993_3118_1040_R->G 0.00159744 55 chr2:216271068:G:C 6993_2879_960_T->S 0.000199681 55 chr2:216271170:A:G 6993_2777_926_M->T 0.000199681 55 chr2:216272843:C:A 6993_2506_836_A->S 0.000199681 55 chr2:216272900:T:G 6993_2449_817_T->P 0.0002 55 chr2:216272920:G:A 6993_2429_810_A->V 0.000199681 55 chr2:216273090:T:A 6993_2359_787_I->F 0.000399361 55 chr2:216274415:T:C 6993_2170_724_T->A 0.000199681 55 chr2:216274441:G:A 6993_2144_715_T->M 0.00119808 55 chr2:216274454:C:T 6993_2131_711_V->M 0.000199681 55 chr2:216274456:G:A 6993_2129_710_T->I 0.00638978 55 chr2:216274797:C:T 6993_1982_661_G->D 0.000199681 55 chr2:216274812:T:G 6993_1967_656_E->A 0.000199681 55 chr2:216279624:T:C 6993_1877_626_H->R 0.000199681 55 chr2:216279628:A:T 6993_1873_625_S->T 0.000199681 55 chr2:216279642:G:A 6993_1859_620_P->L 0.0 55 chr2:216284003:A:G 6993_1781_594_I->T 0.000399361 55 chr2:216284009:C:T 6993_1775_592_R->H 0.000599042 55 chr2:216284069:A:G 6993_1715_572_I->T 0.000599042 55 chr2:216284099:T:G 6993_1685_562_Q->P 0.000199681 55 chr2:216285446:T:C 6993_1625_542_N->S 0.000199681 55 chr2:216286852:C:T 6993_1508_503_R->H 0.000199681 55 chr2:216286912:T:C 6993_1448_483_Q->R 0.000199681 55 chr2:216288219:T:C 6993_1247_416_N->S 0.000599042 55 chr2:216288896:T:C 6993_1189_397_K->E 0.000199681 55 chr2:216289012:T:C 6993_1073_358_E->G 0.000399361 55 chr2:216289015:C:T 6993_1070_357_G->E 0.00119808 55 chr2:216289819:G:A 6993_1034_345_T->I 0.000199681 55 chr2:216292996:T:A 6993_751_251_N->Y 0.000199681 55 chr2:216293022:A:G 6993_725_242_I->T 0.000199681 55 chr2:216295531:C:T 6993_592_198_G->R 0.000199681 55 chr2:216296589:T:C 6993_514_172_N->D 0.000399361 55 chr2:216296636:C:G 6993_467_156_R->T 0.000199681 55 chr2:216298050:C:T 6993_412_138_A->T 0.000199681 55 chr2:216298059:A:G 6993_403_135_C->R 0.000199681 55 chr2:216298080:C:T 6993_382_128_A->T 0.000199681 55 chr2:216298149:T:G 6993_313_105_T->P 0.000199681 55 chr2:216299481:T:C 6993_215_72_N->S 0.000199681 55 chr2:216299494:T:A 6993_202_68_T->S 0.00139776 55 chr2:216299547:G:A 6993_149_50_P->L 0.000199681 55 chr2:216300383:C:T 6993_143_48_S->N 0.000199681 55 chr2:216300405:A:C 6993_121_41_S->A 0.00658946 55 chr2:216300417:C:T 6993_109_37_V->I 0.000199681 55 chr2:216300470:G:A 6993_56_19_T->I 0.0081869 55 chr2:216300482:T:A 6993_44_15_Q->L 0.204872 55 chr2:216300486:C:G 6993_40_14_V->L 0.00479233 55 chr2:216300497:A:G 6993_29_10_L->P 0.000199681 55 na12878 Variants: 55 chr2:216235089:C:T 6993_6340_2114_V->I 55 chr2:216272900:T:G 6993_2449_817_T->P 55 chr2:216300482:T:A 6993_44_15_Q->L 55 snyder Variants: 55 chr2:216235089:C:T 6993_6340_2114_V->I 55 chr2:216272900:T:G 6993_2449_817_T->P 55 chr2:216300482:T:A 6993_44_15_Q->L 56 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000443816 gene_Name: FINC_HUMAN 56 list of pdbs: 56 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 56 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 56 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 56 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 56 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 56 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 56 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 56 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 56 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 56 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 56 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 56 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 56 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 56 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 56 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 56 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 56 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 56 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 56 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 56 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 56 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 56 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 56 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 56 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 56 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 56 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 56 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 56 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 56 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 56 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 56 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 56 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 56 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 56 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 56 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 56 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 56 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 56 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 56 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 56 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 56 Zimmer Variants: 56 chr2:216235089:C:T 6798_6145_2049_V->I 56 chr2:216272900:T:G 6798_2449_817_T->P 56 chr2:216300482:T:A 6798_44_15_Q->L 56 HGMD Variants: 56 chr2:216240408:A:C 6798_5378_1793_L->R 56 chr2:216241335:A:T 6798_5230_1744_W->R 56 chr2:216259404:C:T 6798_3643_1215_G->S 56 chr2:216262472:C:T 6798_3448_1150_V->I 56 chr2:216271029:T:C 6798_2918_973_Y->C 56 oneKG Variants: 56 chr2:216226285:C:T 6798_6791_2264_R->Q 0.000798722 56 chr2:216226780:C:T 6798_6638_2213_R->H 0.000199681 56 chr2:216226802:C:T 6798_6616_2206_G->S 0.000199681 56 chr2:216229670:C:T 6798_6547_2183_V->I 0.000199681 56 chr2:216230302:C:T 6798_6434_2145_R->H 0.000199681 56 chr2:216232654:T:A 6798_6314_2105_E->V 0.000199681 56 chr2:216232681:A:G 6798_6287_2096_V->A 0.00339457 56 chr2:216232682:C:T 6798_6286_2096_V->I 0.000199681 56 chr2:216232706:G:A 6798_6262_2088_P->S 0.000199681 56 chr2:216232717:G:A 6798_6251_2084_S->L 0.000399361 56 chr2:216235029:C:T 6798_6205_2069_V->M 0.000199681 56 chr2:216235046:C:T 6798_6188_2063_R->Q 0.0351438 56 chr2:216235089:C:T 6798_6145_2049_V->I 0.0002 56 chr2:216236639:G:C 6798_6071_2024_P->R 0.000199681 56 chr2:216236711:A:G 6798_5999_2000_I->T 0.000199681 56 chr2:216236712:T:C 6798_5998_2000_I->V 0.0159744 56 chr2:216236736:G:T 6798_5974_1992_Q->K 0.000199681 56 chr2:216236879:G:A 6798_5924_1975_T->M 0.000199681 56 chr2:216236888:G:A 6798_5915_1972_P->L 0.000199681 56 chr2:216236897:C:T 6798_5906_1969_R->Q 0.000199681 56 chr2:216236998:G:T 6798_5805_1935_H->Q 0.000199681 56 chr2:216237006:C:T 6798_5797_1933_V->I 0.000199681 56 chr2:216240021:T:C 6798_5530_1844_I->V 0.000199681 56 chr2:216240041:C:T 6798_5510_1837_R->H 0.000399361 56 chr2:216240093:G:A 6798_5458_1820_R->C 0.000199681 56 chr2:216240111:C:T 6798_5440_1814_D->N 0.000399361 56 chr2:216240113:A:G 6798_5438_1813_I->T 0.000199681 56 chr2:216240361:C:T 6798_5425_1809_A->T 0.000199681 56 chr2:216240375:G:T 6798_5411_1804_P->H 0.00179712 56 chr2:216241271:G:A 6798_5294_1765_T->I 0.000399361 56 chr2:216241343:G:T 6798_5222_1741_T->N 0.000199681 56 chr2:216241347:T:A 6798_5218_1740_I->F 0.000798722 56 chr2:216241388:G:A 6798_5177_1726_P->L 0.000399361 56 chr2:216242938:C:G 6798_5127_1709_L->F 0.000199681 56 chr2:216242949:T:C 6798_5116_1706_K->E 0.000199681 56 chr2:216242957:T:C 6798_5108_1703_Y->C 0.000399361 56 chr2:216243854:A:G 6798_5078_1693_M->T 0.000199681 56 chr2:216243867:C:A 6798_5065_1689_V->L 0.000199681 56 chr2:216243897:T:G 6798_5035_1679_N->H 0.000199681 56 chr2:216243938:C:T 6798_4994_1665_R->Q 0.000199681 56 chr2:216243993:T:C 6798_4939_1647_S->G 0.000399361 56 chr2:216247031:T:C 6798_4795_1599_I->V 0.000199681 56 chr2:216248068:G:A 6798_4760_1587_T->I 0.000199681 56 chr2:216248132:T:C 6798_4696_1566_S->G 0.000199681 56 chr2:216248174:C:T 6798_4654_1552_D->N 0.000199681 56 chr2:216248812:C:T 6798_4552_1518_V->M 0.000199681 56 chr2:216248836:G:A 6798_4528_1510_P->S 0.000399361 56 chr2:216248878:C:T 6798_4486_1496_V->M 0.000998403 56 chr2:216248902:T:C 6798_4462_1488_N->D 0.000199681 56 chr2:216249655:T:C 6798_4384_1462_T->A 0.000199681 56 chr2:216249658:G:C 6798_4381_1461_P->A 0.000199681 56 chr2:216249663:G:A 6798_4376_1459_A->V 0.000199681 56 chr2:216249687:G:A 6798_4352_1451_P->L 0.000199681 56 chr2:216251421:G:T 6798_4330_1444_Q->K 0.000199681 56 chr2:216251465:A:C 6798_4286_1429_V->G 0.0 56 chr2:216251538:G:A 6798_4213_1405_R->W 0.00279553 56 chr2:216251580:G:A 6798_4171_1391_R->C 0.00139776 56 chr2:216251630:A:G 6798_4121_1374_F->S 0.000199681 56 chr2:216251667:T:C 6798_4084_1362_T->A 0.000199681 56 chr2:216256388:T:C 6798_3946_1316_I->V 0.00479233 56 chr2:216256394:A:C 6798_3940_1314_L->V 0.000399361 56 chr2:216256402:A:G 6798_3932_1311_V->A 0.000199681 56 chr2:216259262:G:T 6798_3785_1262_T->N 0.000199681 56 chr2:216259357:G:T 6798_3690_1230_S->R 0.000199681 56 chr2:216261932:T:C 6798_3532_1178_T->A 0.00139776 56 chr2:216262429:G:A 6798_3491_1164_A->V 0.000399361 56 chr2:216262454:G:C 6798_3466_1156_L->V 0.000199681 56 chr2:216262505:C:T 6798_3415_1139_V->I 0.000199681 56 chr2:216262556:T:G 6798_3364_1122_S->R 0.000199681 56 chr2:216264005:G:A 6798_3323_1108_T->M 0.000199681 56 chr2:216264021:T:G 6798_3307_1103_I->L 0.00838658 56 chr2:216264069:G:A 6798_3259_1087_P->S 0.000199681 56 chr2:216269133:C:T 6798_3232_1078_A->T 0.000199681 56 chr2:216269166:C:T 6798_3199_1067_V->M 0.000199681 56 chr2:216269207:A:T 6798_3158_1053_L->Q 0.000199681 56 chr2:216269235:C:T 6798_3130_1044_V->M 0.000599042 56 chr2:216269247:T:C 6798_3118_1040_R->G 0.00159744 56 chr2:216271068:G:C 6798_2879_960_T->S 0.000199681 56 chr2:216271170:A:G 6798_2777_926_M->T 0.000199681 56 chr2:216272843:C:A 6798_2506_836_A->S 0.000199681 56 chr2:216272900:T:G 6798_2449_817_T->P 0.0002 56 chr2:216272920:G:A 6798_2429_810_A->V 0.000199681 56 chr2:216273090:T:A 6798_2359_787_I->F 0.000399361 56 chr2:216274415:T:C 6798_2170_724_T->A 0.000199681 56 chr2:216274441:G:A 6798_2144_715_T->M 0.00119808 56 chr2:216274454:C:T 6798_2131_711_V->M 0.000199681 56 chr2:216274456:G:A 6798_2129_710_T->I 0.00638978 56 chr2:216274797:C:T 6798_1982_661_G->D 0.000199681 56 chr2:216274812:T:G 6798_1967_656_E->A 0.000199681 56 chr2:216279624:T:C 6798_1877_626_H->R 0.000199681 56 chr2:216279628:A:T 6798_1873_625_S->T 0.000199681 56 chr2:216279642:G:A 6798_1859_620_P->L 0.0 56 chr2:216284003:A:G 6798_1781_594_I->T 0.000399361 56 chr2:216284009:C:T 6798_1775_592_R->H 0.000599042 56 chr2:216284069:A:G 6798_1715_572_I->T 0.000599042 56 chr2:216284099:T:G 6798_1685_562_Q->P 0.000199681 56 chr2:216285446:T:C 6798_1625_542_N->S 0.000199681 56 chr2:216286852:C:T 6798_1508_503_R->H 0.000199681 56 chr2:216286912:T:C 6798_1448_483_Q->R 0.000199681 56 chr2:216288219:T:C 6798_1247_416_N->S 0.000599042 56 chr2:216288896:T:C 6798_1189_397_K->E 0.000199681 56 chr2:216289012:T:C 6798_1073_358_E->G 0.000399361 56 chr2:216289015:C:T 6798_1070_357_G->E 0.00119808 56 chr2:216289819:G:A 6798_1034_345_T->I 0.000199681 56 chr2:216292996:T:A 6798_751_251_N->Y 0.000199681 56 chr2:216293022:A:G 6798_725_242_I->T 0.000199681 56 chr2:216295531:C:T 6798_592_198_G->R 0.000199681 56 chr2:216296589:T:C 6798_514_172_N->D 0.000399361 56 chr2:216296636:C:G 6798_467_156_R->T 0.000199681 56 chr2:216298050:C:T 6798_412_138_A->T 0.000199681 56 chr2:216298059:A:G 6798_403_135_C->R 0.000199681 56 chr2:216298080:C:T 6798_382_128_A->T 0.000199681 56 chr2:216298149:T:G 6798_313_105_T->P 0.000199681 56 chr2:216299481:T:C 6798_215_72_N->S 0.000199681 56 chr2:216299494:T:A 6798_202_68_T->S 0.00139776 56 chr2:216299547:G:A 6798_149_50_P->L 0.000199681 56 chr2:216300383:C:T 6798_143_48_S->N 0.000199681 56 chr2:216300405:A:C 6798_121_41_S->A 0.00658946 56 chr2:216300417:C:T 6798_109_37_V->I 0.000199681 56 chr2:216300470:G:A 6798_56_19_T->I 0.0081869 56 chr2:216300482:T:A 6798_44_15_Q->L 0.204872 56 chr2:216300486:C:G 6798_40_14_V->L 0.00479233 56 chr2:216300497:A:G 6798_29_10_L->P 0.000199681 56 na12878 Variants: 56 chr2:216235089:C:T 6798_6145_2049_V->I 56 chr2:216272900:T:G 6798_2449_817_T->P 56 chr2:216300482:T:A 6798_44_15_Q->L 56 snyder Variants: 56 chr2:216235089:C:T 6798_6145_2049_V->I 56 chr2:216272900:T:G 6798_2449_817_T->P 56 chr2:216300482:T:A 6798_44_15_Q->L 57 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000432072 gene_Name: FINC_HUMAN 57 list of pdbs: 57 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 57 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 57 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 57 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 57 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 57 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 57 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 57 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 57 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 57 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 57 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 57 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 57 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 57 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 57 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 57 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 57 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 57 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 57 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 57 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 57 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 57 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 57 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 57 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 57 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 57 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 57 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 57 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 57 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 57 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 57 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 57 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 57 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 57 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 57 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 57 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 57 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 57 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 57 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 57 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 57 Zimmer Variants: 57 chr2:216235089:C:T 6804_6151_2051_V->I 57 chr2:216272900:T:G 6804_2449_817_T->P 57 chr2:216300482:T:A 6804_44_15_Q->L 57 HGMD Variants: 57 chr2:216240408:A:C 6804_5651_1884_L->R 57 chr2:216241335:A:T 6804_5503_1835_W->R 57 chr2:216259404:C:T 6804_3643_1215_G->S 57 chr2:216262472:C:T 6804_3448_1150_V->I 57 chr2:216271029:T:C 6804_2918_973_Y->C 57 oneKG Variants: 57 chr2:216226285:C:T 6804_6797_2266_R->Q 0.000798722 57 chr2:216226780:C:T 6804_6644_2215_R->H 0.000199681 57 chr2:216226802:C:T 6804_6622_2208_G->S 0.000199681 57 chr2:216229670:C:T 6804_6553_2185_V->I 0.000199681 57 chr2:216230302:C:T 6804_6440_2147_R->H 0.000199681 57 chr2:216232654:T:A 6804_6320_2107_E->V 0.000199681 57 chr2:216232681:A:G 6804_6293_2098_V->A 0.00339457 57 chr2:216232682:C:T 6804_6292_2098_V->I 0.000199681 57 chr2:216232706:G:A 6804_6268_2090_P->S 0.000199681 57 chr2:216232717:G:A 6804_6257_2086_S->L 0.000399361 57 chr2:216235029:C:T 6804_6211_2071_V->M 0.000199681 57 chr2:216235046:C:T 6804_6194_2065_R->Q 0.0351438 57 chr2:216235089:C:T 6804_6151_2051_V->I 0.0002 57 chr2:216236639:G:C 6804_6077_2026_P->R 0.000199681 57 chr2:216236711:A:G 6804_6005_2002_I->T 0.000199681 57 chr2:216236712:T:C 6804_6004_2002_I->V 0.0159744 57 chr2:216236736:G:T 6804_5980_1994_Q->K 0.000199681 57 chr2:216240021:T:C 6804_5803_1935_I->V 0.000199681 57 chr2:216240041:C:T 6804_5783_1928_R->H 0.000399361 57 chr2:216240093:G:A 6804_5731_1911_R->C 0.000199681 57 chr2:216240111:C:T 6804_5713_1905_D->N 0.000399361 57 chr2:216240113:A:G 6804_5711_1904_I->T 0.000199681 57 chr2:216240361:C:T 6804_5698_1900_A->T 0.000199681 57 chr2:216240375:G:T 6804_5684_1895_P->H 0.00179712 57 chr2:216241271:G:A 6804_5567_1856_T->I 0.000399361 57 chr2:216241343:G:T 6804_5495_1832_T->N 0.000199681 57 chr2:216241347:T:A 6804_5491_1831_I->F 0.000798722 57 chr2:216241388:G:A 6804_5450_1817_P->L 0.000399361 57 chr2:216242938:C:G 6804_5400_1800_L->F 0.000199681 57 chr2:216242949:T:C 6804_5389_1797_K->E 0.000199681 57 chr2:216242957:T:C 6804_5381_1794_Y->C 0.000399361 57 chr2:216243854:A:G 6804_5351_1784_M->T 0.000199681 57 chr2:216243867:C:A 6804_5338_1780_V->L 0.000199681 57 chr2:216243897:T:G 6804_5308_1770_N->H 0.000199681 57 chr2:216243938:C:T 6804_5267_1756_R->Q 0.000199681 57 chr2:216243993:T:C 6804_5212_1738_S->G 0.000399361 57 chr2:216247031:T:C 6804_5068_1690_I->V 0.000199681 57 chr2:216248068:G:A 6804_5033_1678_T->I 0.000199681 57 chr2:216248132:T:C 6804_4969_1657_S->G 0.000199681 57 chr2:216248174:C:T 6804_4927_1643_D->N 0.000199681 57 chr2:216248812:C:T 6804_4825_1609_V->M 0.000199681 57 chr2:216248836:G:A 6804_4801_1601_P->S 0.000399361 57 chr2:216248878:C:T 6804_4759_1587_V->M 0.000998403 57 chr2:216248902:T:C 6804_4735_1579_N->D 0.000199681 57 chr2:216249655:T:C 6804_4657_1553_T->A 0.000199681 57 chr2:216249658:G:C 6804_4654_1552_P->A 0.000199681 57 chr2:216249663:G:A 6804_4649_1550_A->V 0.000199681 57 chr2:216249687:G:A 6804_4625_1542_P->L 0.000199681 57 chr2:216251421:G:T 6804_4603_1535_Q->K 0.000199681 57 chr2:216251465:A:C 6804_4559_1520_V->G 0.0 57 chr2:216251538:G:A 6804_4486_1496_R->W 0.00279553 57 chr2:216251580:G:A 6804_4444_1482_R->C 0.00139776 57 chr2:216251630:A:G 6804_4394_1465_F->S 0.000199681 57 chr2:216251667:T:C 6804_4357_1453_T->A 0.000199681 57 chr2:216256388:T:C 6804_4219_1407_I->V 0.00479233 57 chr2:216256394:A:C 6804_4213_1405_L->V 0.000399361 57 chr2:216256402:A:G 6804_4205_1402_V->A 0.000199681 57 chr2:216257690:C:T 6804_4033_1345_G->S 0.000199681 57 chr2:216257711:C:T 6804_4012_1338_V->I 0.000199681 57 chr2:216257717:T:C 6804_4006_1336_I->V 0.000199681 57 chr2:216257753:T:C 6804_3970_1324_T->A 0.000199681 57 chr2:216257755:T:C 6804_3968_1323_Y->C 0.000199681 57 chr2:216257770:G:C 6804_3953_1318_S->C 0.000199681 57 chr2:216257828:G:A 6804_3895_1299_R->C 0.000199681 57 chr2:216259262:G:T 6804_3785_1262_T->N 0.000199681 57 chr2:216259357:G:T 6804_3690_1230_S->R 0.000199681 57 chr2:216261932:T:C 6804_3532_1178_T->A 0.00139776 57 chr2:216262429:G:A 6804_3491_1164_A->V 0.000399361 57 chr2:216262454:G:C 6804_3466_1156_L->V 0.000199681 57 chr2:216262505:C:T 6804_3415_1139_V->I 0.000199681 57 chr2:216262556:T:G 6804_3364_1122_S->R 0.000199681 57 chr2:216264005:G:A 6804_3323_1108_T->M 0.000199681 57 chr2:216264021:T:G 6804_3307_1103_I->L 0.00838658 57 chr2:216264069:G:A 6804_3259_1087_P->S 0.000199681 57 chr2:216269133:C:T 6804_3232_1078_A->T 0.000199681 57 chr2:216269166:C:T 6804_3199_1067_V->M 0.000199681 57 chr2:216269207:A:T 6804_3158_1053_L->Q 0.000199681 57 chr2:216269235:C:T 6804_3130_1044_V->M 0.000599042 57 chr2:216269247:T:C 6804_3118_1040_R->G 0.00159744 57 chr2:216271068:G:C 6804_2879_960_T->S 0.000199681 57 chr2:216271170:A:G 6804_2777_926_M->T 0.000199681 57 chr2:216272843:C:A 6804_2506_836_A->S 0.000199681 57 chr2:216272900:T:G 6804_2449_817_T->P 0.0002 57 chr2:216272920:G:A 6804_2429_810_A->V 0.000199681 57 chr2:216273090:T:A 6804_2359_787_I->F 0.000399361 57 chr2:216274415:T:C 6804_2170_724_T->A 0.000199681 57 chr2:216274441:G:A 6804_2144_715_T->M 0.00119808 57 chr2:216274454:C:T 6804_2131_711_V->M 0.000199681 57 chr2:216274456:G:A 6804_2129_710_T->I 0.00638978 57 chr2:216274797:C:T 6804_1982_661_G->D 0.000199681 57 chr2:216274812:T:G 6804_1967_656_E->A 0.000199681 57 chr2:216279624:T:C 6804_1877_626_H->R 0.000199681 57 chr2:216279628:A:T 6804_1873_625_S->T 0.000199681 57 chr2:216279642:G:A 6804_1859_620_P->L 0.0 57 chr2:216284003:A:G 6804_1781_594_I->T 0.000399361 57 chr2:216284009:C:T 6804_1775_592_R->H 0.000599042 57 chr2:216284069:A:G 6804_1715_572_I->T 0.000599042 57 chr2:216284099:T:G 6804_1685_562_Q->P 0.000199681 57 chr2:216285446:T:C 6804_1625_542_N->S 0.000199681 57 chr2:216286852:C:T 6804_1508_503_R->H 0.000199681 57 chr2:216286912:T:C 6804_1448_483_Q->R 0.000199681 57 chr2:216288219:T:C 6804_1247_416_N->S 0.000599042 57 chr2:216288896:T:C 6804_1189_397_K->E 0.000199681 57 chr2:216289012:T:C 6804_1073_358_E->G 0.000399361 57 chr2:216289015:C:T 6804_1070_357_G->E 0.00119808 57 chr2:216289819:G:A 6804_1034_345_T->I 0.000199681 57 chr2:216292996:T:A 6804_751_251_N->Y 0.000199681 57 chr2:216293022:A:G 6804_725_242_I->T 0.000199681 57 chr2:216295531:C:T 6804_592_198_G->R 0.000199681 57 chr2:216296589:T:C 6804_514_172_N->D 0.000399361 57 chr2:216296636:C:G 6804_467_156_R->T 0.000199681 57 chr2:216298050:C:T 6804_412_138_A->T 0.000199681 57 chr2:216298059:A:G 6804_403_135_C->R 0.000199681 57 chr2:216298080:C:T 6804_382_128_A->T 0.000199681 57 chr2:216298149:T:G 6804_313_105_T->P 0.000199681 57 chr2:216299481:T:C 6804_215_72_N->S 0.000199681 57 chr2:216299494:T:A 6804_202_68_T->S 0.00139776 57 chr2:216299547:G:A 6804_149_50_P->L 0.000199681 57 chr2:216300383:C:T 6804_143_48_S->N 0.000199681 57 chr2:216300405:A:C 6804_121_41_S->A 0.00658946 57 chr2:216300417:C:T 6804_109_37_V->I 0.000199681 57 chr2:216300470:G:A 6804_56_19_T->I 0.0081869 57 chr2:216300482:T:A 6804_44_15_Q->L 0.204872 57 chr2:216300486:C:G 6804_40_14_V->L 0.00479233 57 chr2:216300497:A:G 6804_29_10_L->P 0.000199681 57 na12878 Variants: 57 chr2:216235089:C:T 6804_6151_2051_V->I 57 chr2:216272900:T:G 6804_2449_817_T->P 57 chr2:216300482:T:A 6804_44_15_Q->L 57 snyder Variants: 57 chr2:216235089:C:T 6804_6151_2051_V->I 57 chr2:216272900:T:G 6804_2449_817_T->P 57 chr2:216300482:T:A 6804_44_15_Q->L 58 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000356005 gene_Name: FINC_HUMAN 58 list of pdbs: 58 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 58 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 58 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 58 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 58 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 58 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 58 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 58 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 58 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 58 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 58 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 58 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 58 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 58 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 58 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 58 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 58 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 58 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 58 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 58 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 58 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 58 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 58 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 58 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 58 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 58 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 58 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 58 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 58 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 58 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 58 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 58 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 58 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 58 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 58 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 58 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 58 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 58 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 58 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 58 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 58 Zimmer Variants: 58 chr2:216235089:C:T 6891_6238_2080_V->I 58 chr2:216272900:T:G 6891_2449_817_T->P 58 chr2:216300482:T:A 6891_44_15_Q->L 58 HGMD Variants: 58 chr2:216240408:A:C 6891_5378_1793_L->R 58 chr2:216241335:A:T 6891_5230_1744_W->R 58 chr2:216259404:C:T 6891_3643_1215_G->S 58 chr2:216262472:C:T 6891_3448_1150_V->I 58 chr2:216271029:T:C 6891_2918_973_Y->C 58 oneKG Variants: 58 chr2:216226285:C:T 6891_6884_2295_R->Q 0.000798722 58 chr2:216226780:C:T 6891_6731_2244_R->H 0.000199681 58 chr2:216226802:C:T 6891_6709_2237_G->S 0.000199681 58 chr2:216229670:C:T 6891_6640_2214_V->I 0.000199681 58 chr2:216230302:C:T 6891_6527_2176_R->H 0.000199681 58 chr2:216232654:T:A 6891_6407_2136_E->V 0.000199681 58 chr2:216232681:A:G 6891_6380_2127_V->A 0.00339457 58 chr2:216232682:C:T 6891_6379_2127_V->I 0.000199681 58 chr2:216232706:G:A 6891_6355_2119_P->S 0.000199681 58 chr2:216232717:G:A 6891_6344_2115_S->L 0.000399361 58 chr2:216235029:C:T 6891_6298_2100_V->M 0.000199681 58 chr2:216235046:C:T 6891_6281_2094_R->Q 0.0351438 58 chr2:216235089:C:T 6891_6238_2080_V->I 0.0002 58 chr2:216236639:G:C 6891_6164_2055_P->R 0.000199681 58 chr2:216236711:A:G 6891_6092_2031_I->T 0.000199681 58 chr2:216236712:T:C 6891_6091_2031_I->V 0.0159744 58 chr2:216236736:G:T 6891_6067_2023_Q->K 0.000199681 58 chr2:216236762:C:T 6891_6041_2014_G->E 0.000399361 58 chr2:216236765:G:A 6891_6038_2013_P->L 0.000399361 58 chr2:216236825:T:C 6891_5978_1993_E->G 0.000199681 58 chr2:216236879:G:A 6891_5924_1975_T->M 0.000199681 58 chr2:216236888:G:A 6891_5915_1972_P->L 0.000199681 58 chr2:216236897:C:T 6891_5906_1969_R->Q 0.000199681 58 chr2:216236998:G:T 6891_5805_1935_H->Q 0.000199681 58 chr2:216237006:C:T 6891_5797_1933_V->I 0.000199681 58 chr2:216240021:T:C 6891_5530_1844_I->V 0.000199681 58 chr2:216240041:C:T 6891_5510_1837_R->H 0.000399361 58 chr2:216240093:G:A 6891_5458_1820_R->C 0.000199681 58 chr2:216240111:C:T 6891_5440_1814_D->N 0.000399361 58 chr2:216240113:A:G 6891_5438_1813_I->T 0.000199681 58 chr2:216240361:C:T 6891_5425_1809_A->T 0.000199681 58 chr2:216240375:G:T 6891_5411_1804_P->H 0.00179712 58 chr2:216241271:G:A 6891_5294_1765_T->I 0.000399361 58 chr2:216241343:G:T 6891_5222_1741_T->N 0.000199681 58 chr2:216241347:T:A 6891_5218_1740_I->F 0.000798722 58 chr2:216241388:G:A 6891_5177_1726_P->L 0.000399361 58 chr2:216242938:C:G 6891_5127_1709_L->F 0.000199681 58 chr2:216242949:T:C 6891_5116_1706_K->E 0.000199681 58 chr2:216242957:T:C 6891_5108_1703_Y->C 0.000399361 58 chr2:216243854:A:G 6891_5078_1693_M->T 0.000199681 58 chr2:216243867:C:A 6891_5065_1689_V->L 0.000199681 58 chr2:216243897:T:G 6891_5035_1679_N->H 0.000199681 58 chr2:216243938:C:T 6891_4994_1665_R->Q 0.000199681 58 chr2:216243993:T:C 6891_4939_1647_S->G 0.000399361 58 chr2:216247031:T:C 6891_4795_1599_I->V 0.000199681 58 chr2:216248068:G:A 6891_4760_1587_T->I 0.000199681 58 chr2:216248132:T:C 6891_4696_1566_S->G 0.000199681 58 chr2:216248174:C:T 6891_4654_1552_D->N 0.000199681 58 chr2:216248812:C:T 6891_4552_1518_V->M 0.000199681 58 chr2:216248836:G:A 6891_4528_1510_P->S 0.000399361 58 chr2:216248878:C:T 6891_4486_1496_V->M 0.000998403 58 chr2:216248902:T:C 6891_4462_1488_N->D 0.000199681 58 chr2:216249655:T:C 6891_4384_1462_T->A 0.000199681 58 chr2:216249658:G:C 6891_4381_1461_P->A 0.000199681 58 chr2:216249663:G:A 6891_4376_1459_A->V 0.000199681 58 chr2:216249687:G:A 6891_4352_1451_P->L 0.000199681 58 chr2:216251421:G:T 6891_4330_1444_Q->K 0.000199681 58 chr2:216251465:A:C 6891_4286_1429_V->G 0.0 58 chr2:216251538:G:A 6891_4213_1405_R->W 0.00279553 58 chr2:216251580:G:A 6891_4171_1391_R->C 0.00139776 58 chr2:216251630:A:G 6891_4121_1374_F->S 0.000199681 58 chr2:216251667:T:C 6891_4084_1362_T->A 0.000199681 58 chr2:216256388:T:C 6891_3946_1316_I->V 0.00479233 58 chr2:216256394:A:C 6891_3940_1314_L->V 0.000399361 58 chr2:216256402:A:G 6891_3932_1311_V->A 0.000199681 58 chr2:216259262:G:T 6891_3785_1262_T->N 0.000199681 58 chr2:216259357:G:T 6891_3690_1230_S->R 0.000199681 58 chr2:216261932:T:C 6891_3532_1178_T->A 0.00139776 58 chr2:216262429:G:A 6891_3491_1164_A->V 0.000399361 58 chr2:216262454:G:C 6891_3466_1156_L->V 0.000199681 58 chr2:216262505:C:T 6891_3415_1139_V->I 0.000199681 58 chr2:216262556:T:G 6891_3364_1122_S->R 0.000199681 58 chr2:216264005:G:A 6891_3323_1108_T->M 0.000199681 58 chr2:216264021:T:G 6891_3307_1103_I->L 0.00838658 58 chr2:216264069:G:A 6891_3259_1087_P->S 0.000199681 58 chr2:216269133:C:T 6891_3232_1078_A->T 0.000199681 58 chr2:216269166:C:T 6891_3199_1067_V->M 0.000199681 58 chr2:216269207:A:T 6891_3158_1053_L->Q 0.000199681 58 chr2:216269235:C:T 6891_3130_1044_V->M 0.000599042 58 chr2:216269247:T:C 6891_3118_1040_R->G 0.00159744 58 chr2:216271068:G:C 6891_2879_960_T->S 0.000199681 58 chr2:216271170:A:G 6891_2777_926_M->T 0.000199681 58 chr2:216272843:C:A 6891_2506_836_A->S 0.000199681 58 chr2:216272900:T:G 6891_2449_817_T->P 0.0002 58 chr2:216272920:G:A 6891_2429_810_A->V 0.000199681 58 chr2:216273090:T:A 6891_2359_787_I->F 0.000399361 58 chr2:216274415:T:C 6891_2170_724_T->A 0.000199681 58 chr2:216274441:G:A 6891_2144_715_T->M 0.00119808 58 chr2:216274454:C:T 6891_2131_711_V->M 0.000199681 58 chr2:216274456:G:A 6891_2129_710_T->I 0.00638978 58 chr2:216274797:C:T 6891_1982_661_G->D 0.000199681 58 chr2:216274812:T:G 6891_1967_656_E->A 0.000199681 58 chr2:216279624:T:C 6891_1877_626_H->R 0.000199681 58 chr2:216279628:A:T 6891_1873_625_S->T 0.000199681 58 chr2:216279642:G:A 6891_1859_620_P->L 0.0 58 chr2:216284003:A:G 6891_1781_594_I->T 0.000399361 58 chr2:216284009:C:T 6891_1775_592_R->H 0.000599042 58 chr2:216284069:A:G 6891_1715_572_I->T 0.000599042 58 chr2:216284099:T:G 6891_1685_562_Q->P 0.000199681 58 chr2:216285446:T:C 6891_1625_542_N->S 0.000199681 58 chr2:216286852:C:T 6891_1508_503_R->H 0.000199681 58 chr2:216286912:T:C 6891_1448_483_Q->R 0.000199681 58 chr2:216288219:T:C 6891_1247_416_N->S 0.000599042 58 chr2:216288896:T:C 6891_1189_397_K->E 0.000199681 58 chr2:216289012:T:C 6891_1073_358_E->G 0.000399361 58 chr2:216289015:C:T 6891_1070_357_G->E 0.00119808 58 chr2:216289819:G:A 6891_1034_345_T->I 0.000199681 58 chr2:216292996:T:A 6891_751_251_N->Y 0.000199681 58 chr2:216293022:A:G 6891_725_242_I->T 0.000199681 58 chr2:216295531:C:T 6891_592_198_G->R 0.000199681 58 chr2:216296589:T:C 6891_514_172_N->D 0.000399361 58 chr2:216296636:C:G 6891_467_156_R->T 0.000199681 58 chr2:216298050:C:T 6891_412_138_A->T 0.000199681 58 chr2:216298059:A:G 6891_403_135_C->R 0.000199681 58 chr2:216298080:C:T 6891_382_128_A->T 0.000199681 58 chr2:216298149:T:G 6891_313_105_T->P 0.000199681 58 chr2:216299481:T:C 6891_215_72_N->S 0.000199681 58 chr2:216299494:T:A 6891_202_68_T->S 0.00139776 58 chr2:216299547:G:A 6891_149_50_P->L 0.000199681 58 chr2:216300383:C:T 6891_143_48_S->N 0.000199681 58 chr2:216300405:A:C 6891_121_41_S->A 0.00658946 58 chr2:216300417:C:T 6891_109_37_V->I 0.000199681 58 chr2:216300470:G:A 6891_56_19_T->I 0.0081869 58 chr2:216300482:T:A 6891_44_15_Q->L 0.204872 58 chr2:216300486:C:G 6891_40_14_V->L 0.00479233 58 chr2:216300497:A:G 6891_29_10_L->P 0.000199681 58 na12878 Variants: 58 chr2:216235089:C:T 6891_6238_2080_V->I 58 chr2:216272900:T:G 6891_2449_817_T->P 58 chr2:216300482:T:A 6891_44_15_Q->L 58 snyder Variants: 58 chr2:216235089:C:T 6891_6238_2080_V->I 58 chr2:216272900:T:G 6891_2449_817_T->P 58 chr2:216300482:T:A 6891_44_15_Q->L 59 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000345488 gene_Name: FINC_HUMAN 59 list of pdbs: 59 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 59 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 59 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 59 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 59 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 59 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 59 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 59 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 59 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 59 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 59 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 59 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 59 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 59 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 59 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 59 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 59 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 59 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 59 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 59 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 59 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 59 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 59 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 59 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 59 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 59 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 59 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 59 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 59 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 59 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 59 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 59 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 59 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 59 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 59 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 59 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 59 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 59 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 59 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 59 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 59 Zimmer Variants: 59 chr2:216272900:T:G 6555_2449_817_T->P 59 chr2:216300482:T:A 6555_44_15_Q->L 59 HGMD Variants: 59 chr2:216240408:A:C 6555_5648_1883_L->R 59 chr2:216241335:A:T 6555_5500_1834_W->R 59 chr2:216259404:C:T 6555_3643_1215_G->S 59 chr2:216262472:C:T 6555_3448_1150_V->I 59 chr2:216271029:T:C 6555_2918_973_Y->C 59 oneKG Variants: 59 chr2:216245729:G:A 6555_4966_1656_Q->* 0.000199681 59 chr2:216226285:C:T 6555_6548_2183_R->Q 0.000798722 59 chr2:216226780:C:T 6555_6395_2132_R->H 0.000199681 59 chr2:216226802:C:T 6555_6373_2125_G->S 0.000199681 59 chr2:216229670:C:T 6555_6304_2102_V->I 0.000199681 59 chr2:216230302:C:T 6555_6191_2064_R->H 0.000199681 59 chr2:216232654:T:A 6555_6071_2024_E->V 0.000199681 59 chr2:216232681:A:G 6555_6044_2015_V->A 0.00339457 59 chr2:216232682:C:T 6555_6043_2015_V->I 0.000199681 59 chr2:216232706:G:A 6555_6019_2007_P->S 0.000199681 59 chr2:216232717:G:A 6555_6008_2003_S->L 0.000399361 59 chr2:216240021:T:C 6555_5800_1934_I->V 0.000199681 59 chr2:216240041:C:T 6555_5780_1927_R->H 0.000399361 59 chr2:216240093:G:A 6555_5728_1910_R->C 0.000199681 59 chr2:216240111:C:T 6555_5710_1904_D->N 0.000399361 59 chr2:216240113:A:G 6555_5708_1903_I->T 0.000199681 59 chr2:216240361:C:T 6555_5695_1899_A->T 0.000199681 59 chr2:216240375:G:T 6555_5681_1894_P->H 0.00179712 59 chr2:216241271:G:A 6555_5564_1855_T->I 0.000399361 59 chr2:216241343:G:T 6555_5492_1831_T->N 0.000199681 59 chr2:216241347:T:A 6555_5488_1830_I->F 0.000798722 59 chr2:216241388:G:A 6555_5447_1816_P->L 0.000399361 59 chr2:216242938:C:G 6555_5397_1799_L->F 0.000199681 59 chr2:216242949:T:C 6555_5386_1796_K->E 0.000199681 59 chr2:216242957:T:C 6555_5378_1793_Y->C 0.000399361 59 chr2:216243854:A:G 6555_5348_1783_M->T 0.000199681 59 chr2:216243867:C:A 6555_5335_1779_V->L 0.000199681 59 chr2:216243897:T:G 6555_5305_1769_N->H 0.000199681 59 chr2:216243938:C:T 6555_5264_1755_R->Q 0.000199681 59 chr2:216243993:T:C 6555_5209_1737_S->G 0.000399361 59 chr2:216245569:A:G 6555_5126_1709_M->T 0.000199681 59 chr2:216245687:C:T 6555_5008_1670_E->K 0.000199681 59 chr2:216245792:G:T 6555_4903_1635_P->T 0.000199681 59 chr2:216247031:T:C 6555_4795_1599_I->V 0.000199681 59 chr2:216248068:G:A 6555_4760_1587_T->I 0.000199681 59 chr2:216248132:T:C 6555_4696_1566_S->G 0.000199681 59 chr2:216248174:C:T 6555_4654_1552_D->N 0.000199681 59 chr2:216248812:C:T 6555_4552_1518_V->M 0.000199681 59 chr2:216248836:G:A 6555_4528_1510_P->S 0.000399361 59 chr2:216248878:C:T 6555_4486_1496_V->M 0.000998403 59 chr2:216248902:T:C 6555_4462_1488_N->D 0.000199681 59 chr2:216249655:T:C 6555_4384_1462_T->A 0.000199681 59 chr2:216249658:G:C 6555_4381_1461_P->A 0.000199681 59 chr2:216249663:G:A 6555_4376_1459_A->V 0.000199681 59 chr2:216249687:G:A 6555_4352_1451_P->L 0.000199681 59 chr2:216251421:G:T 6555_4330_1444_Q->K 0.000199681 59 chr2:216251465:A:C 6555_4286_1429_V->G 0.0 59 chr2:216251538:G:A 6555_4213_1405_R->W 0.00279553 59 chr2:216251580:G:A 6555_4171_1391_R->C 0.00139776 59 chr2:216251630:A:G 6555_4121_1374_F->S 0.000199681 59 chr2:216251667:T:C 6555_4084_1362_T->A 0.000199681 59 chr2:216256388:T:C 6555_3946_1316_I->V 0.00479233 59 chr2:216256394:A:C 6555_3940_1314_L->V 0.000399361 59 chr2:216256402:A:G 6555_3932_1311_V->A 0.000199681 59 chr2:216259262:G:T 6555_3785_1262_T->N 0.000199681 59 chr2:216259357:G:T 6555_3690_1230_S->R 0.000199681 59 chr2:216261932:T:C 6555_3532_1178_T->A 0.00139776 59 chr2:216262429:G:A 6555_3491_1164_A->V 0.000399361 59 chr2:216262454:G:C 6555_3466_1156_L->V 0.000199681 59 chr2:216262505:C:T 6555_3415_1139_V->I 0.000199681 59 chr2:216262556:T:G 6555_3364_1122_S->R 0.000199681 59 chr2:216264005:G:A 6555_3323_1108_T->M 0.000199681 59 chr2:216264021:T:G 6555_3307_1103_I->L 0.00838658 59 chr2:216264069:G:A 6555_3259_1087_P->S 0.000199681 59 chr2:216269133:C:T 6555_3232_1078_A->T 0.000199681 59 chr2:216269166:C:T 6555_3199_1067_V->M 0.000199681 59 chr2:216269207:A:T 6555_3158_1053_L->Q 0.000199681 59 chr2:216269235:C:T 6555_3130_1044_V->M 0.000599042 59 chr2:216269247:T:C 6555_3118_1040_R->G 0.00159744 59 chr2:216271068:G:C 6555_2879_960_T->S 0.000199681 59 chr2:216271170:A:G 6555_2777_926_M->T 0.000199681 59 chr2:216272843:C:A 6555_2506_836_A->S 0.000199681 59 chr2:216272900:T:G 6555_2449_817_T->P 0.0002 59 chr2:216272920:G:A 6555_2429_810_A->V 0.000199681 59 chr2:216273090:T:A 6555_2359_787_I->F 0.000399361 59 chr2:216274415:T:C 6555_2170_724_T->A 0.000199681 59 chr2:216274441:G:A 6555_2144_715_T->M 0.00119808 59 chr2:216274454:C:T 6555_2131_711_V->M 0.000199681 59 chr2:216274456:G:A 6555_2129_710_T->I 0.00638978 59 chr2:216274797:C:T 6555_1982_661_G->D 0.000199681 59 chr2:216274812:T:G 6555_1967_656_E->A 0.000199681 59 chr2:216279624:T:C 6555_1877_626_H->R 0.000199681 59 chr2:216279628:A:T 6555_1873_625_S->T 0.000199681 59 chr2:216279642:G:A 6555_1859_620_P->L 0.0 59 chr2:216284003:A:G 6555_1781_594_I->T 0.000399361 59 chr2:216284009:C:T 6555_1775_592_R->H 0.000599042 59 chr2:216284069:A:G 6555_1715_572_I->T 0.000599042 59 chr2:216284099:T:G 6555_1685_562_Q->P 0.000199681 59 chr2:216285446:T:C 6555_1625_542_N->S 0.000199681 59 chr2:216286852:C:T 6555_1508_503_R->H 0.000199681 59 chr2:216286912:T:C 6555_1448_483_Q->R 0.000199681 59 chr2:216288219:T:C 6555_1247_416_N->S 0.000599042 59 chr2:216288896:T:C 6555_1189_397_K->E 0.000199681 59 chr2:216289012:T:C 6555_1073_358_E->G 0.000399361 59 chr2:216289015:C:T 6555_1070_357_G->E 0.00119808 59 chr2:216289819:G:A 6555_1034_345_T->I 0.000199681 59 chr2:216292996:T:A 6555_751_251_N->Y 0.000199681 59 chr2:216293022:A:G 6555_725_242_I->T 0.000199681 59 chr2:216295531:C:T 6555_592_198_G->R 0.000199681 59 chr2:216296589:T:C 6555_514_172_N->D 0.000399361 59 chr2:216296636:C:G 6555_467_156_R->T 0.000199681 59 chr2:216298050:C:T 6555_412_138_A->T 0.000199681 59 chr2:216298059:A:G 6555_403_135_C->R 0.000199681 59 chr2:216298080:C:T 6555_382_128_A->T 0.000199681 59 chr2:216298149:T:G 6555_313_105_T->P 0.000199681 59 chr2:216299481:T:C 6555_215_72_N->S 0.000199681 59 chr2:216299494:T:A 6555_202_68_T->S 0.00139776 59 chr2:216299547:G:A 6555_149_50_P->L 0.000199681 59 chr2:216300383:C:T 6555_143_48_S->N 0.000199681 59 chr2:216300405:A:C 6555_121_41_S->A 0.00658946 59 chr2:216300417:C:T 6555_109_37_V->I 0.000199681 59 chr2:216300470:G:A 6555_56_19_T->I 0.0081869 59 chr2:216300482:T:A 6555_44_15_Q->L 0.204872 59 chr2:216300486:C:G 6555_40_14_V->L 0.00479233 59 chr2:216300497:A:G 6555_29_10_L->P 0.000199681 59 na12878 Variants: 59 chr2:216272900:T:G 6555_2449_817_T->P 59 chr2:216300482:T:A 6555_44_15_Q->L 59 snyder Variants: 59 chr2:216272900:T:G 6555_2449_817_T->P 59 chr2:216300482:T:A 6555_44_15_Q->L 60 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115414_ENST00000357009 gene_Name: FINC_HUMAN 60 list of pdbs: 60 4JEG pdb_description: 28-Aug-13 X-ray 2.300 Crystal structure of monobody cs1/shp2 c-sh2 domain complex 60 4JE4 pdb_description: 28-Aug-13 X-ray 2.310 Crystal structure of monobody nsa1/shp2 n-sh2 domain complex 60 4GH7 pdb_description: 26-Dec-12 X-ray 2.600 Crystal structure of anticalin n7a in complex with oncofetal fibronectin fragment fn7b8 60 3ZRZ pdb_description: 28-Sep-11 X-ray 1.700 Crystal structure of the second and third fibronectin f1 mod complex with a fragment of streptococcus pyogenes sfbi-5 60 3R8Q pdb_description: 11-Apr-12 X-ray 2.400 Structure of fibronectin domain 12-14 60 3MQL pdb_description: 25-Aug-10 X-ray 3.000 Crystal structure of the fibronectin 6fni1-2fnii7fni fragmen 60 3M7P pdb_description: 23-Jun-10 X-ray 2.500 Fibronectin fragment 60 3CAL pdb_description: 05-Aug-08 X-ray 1.700 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 60 2RL0 pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-5 60 2RKZ pdb_description: 05-Aug-08 X-ray 2.000 Crystal structure of the second and third fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 60 2RKY pdb_description: 05-Aug-08 X-ray 1.800 Crystal structure of the fourth and fifth fibronectin f1 modules in complex with a fragment of staphylococcus aureus fnbpa-1 60 2HA1 pdb_description: 10-Apr-07 NMR 39 Complex of the first and second type iii domains of human fibronectin in solution 60 2H45 pdb_description: 10-Apr-07 NMR 25 Solution structure of the second type iii domain of human fibronectin: ensemble of 25 structures 60 2H41 pdb_description: 10-Apr-07 NMR 1 Solution structure of the second type iii domain of human fibronectin: minimized average structure 60 2GEE pdb_description: 17-Oct-06 X-ray 2.010 Crystal structure of human type iii fibronectin extradomain b and domain 8 60 2FNB pdb_description: 23-Dec-98 NMR 20 Nmr structure of the fibronectin ed-b domain, nmr, 20 structures 60 2FN2 pdb_description: 16-Sep-98 NMR 20 Solution nmr structure of the glycosylated second type two m fibronectin, 20 structures 60 2EC3 pdb_description: 04-Mar-08 NMR 20 Solution structure of the 11th fn1 domain from human fibronectin 1 60 2CKU pdb_description: 03-Apr-07 NMR 15 Solution structure of 2f13f1 from human fibronectin 60 2CK2 pdb_description: 10-Apr-07 X-ray 2.000 Structure of core-swapped mutant of fibronectin 60 2CG7 pdb_description: 27-Feb-07 X-ray 1.200 Second and third fibronectin type i module pair (crystal form ii). 60 2CG6 pdb_description: 27-Feb-07 X-ray 1.550 Second and third fibronectin type i module pair (crystal form i). 60 1TTG pdb_description: 31-Jan-94 NMR 1 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 60 1TTF pdb_description: 31-Jan-94 NMR 36 The three-dimensional structure of the tenth type iii module of fibronectin: an insight into rgd-mediated interactions 60 1QO6 pdb_description: 11-Jan-00 NMR 55 Solution structure of a pair of modules from the gelatin-binding domain of fibronectin 60 1QGB pdb_description: 08-Dec-99 NMR 24 Solution structure of the n-terminal f1 module pair from human fibronectin 60 1Q38 pdb_description: 04-Nov-03 NMR 35 Anastellin 60 1OWW pdb_description: 07-Oct-03 NMR 24 Solution structure of the first type iii module of human fibronectin determined by 1h, 15n nmr spectroscopy 60 1O9A pdb_description: 08-May-03 NMR 15 Solution structure of the complex of 1f12f1 from fibronectin with b3 from fnbb from s. Dysgalactiae 60 1J8K pdb_description: 06-Feb-02 NMR 20 Nmr structure of the fibronectin eda domain, nmr, 20 structures 60 1FNH pdb_description: 16-Mar-99 X-ray 2.800 Crystal structure of heparin and integrin binding segment of human fibronectin 60 1FNF pdb_description: 29-Jan-96 X-ray 2.000 Fragment of human fibronectin encompassing type-iii repeats 7 through 10 60 1FNA pdb_description: 30-Apr-94 X-ray 1.800 Crystal structure of the tenth type iii cell adhesion module of human fibronectin 60 1FBR pdb_description: 15-Oct-95 NMR 1 Fourth and fifth fibronectin type i module pair 60 1E8B pdb_description: 15-Oct-00 NMR 1 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 60 1E88 pdb_description: 09-Oct-00 NMR 20 Solution structure of 6f11f22f2, a compact three-module fragment of the gelatin-binding domain of human fibronectin 60 2OCF pdb_description: 06-Nov-07 X-ray 2.950 Human estrogen receptor alpha ligand-binding domain in compl estradiol and the e2#23 fn3 monobody 60 3GXE pdb_description: 07-Apr-10 X-ray 2.600 Complex of a low affinity collagen site with the fibronectin domain pair 60 3EJH pdb_description: 03-Feb-09 X-ray 2.100 Crystal structure of the fibronectin 8-9fni domain pair in c with a type-i collagen peptide 60 3T1W pdb_description: 21-Mar-12 X-ray 2.400 Structure of the four-domain fragment fn7b89 of oncofetal fi 60 Zimmer Variants: 60 chr2:216272900:T:G 6096_2449_817_T->P;HUB=PPI;GNEG=Yes;GENE=FN1;CDSS=4;DBRECUR=FN1 60 chr2:216300482:T:A 6096_44_15_Q->L 60 HGMD Variants: 60 chr2:216240408:A:C 6096_5648_1883_L->R 60 chr2:216241335:A:T 6096_5500_1834_W->R 60 chr2:216259404:C:T 6096_3643_1215_G->S 60 chr2:216262472:C:T 6096_3448_1150_V->I 60 chr2:216271029:T:C 6096_2918_973_Y->C 60 oneKG Variants: 60 chr2:216245729:G:A 6096_4966_1656_Q->* 0.000199681 60 chr2:216232746:G:A 6096_6086_2029_T->M,1 0.000199681 60 chr2:216236639:G:C 6096_6074_2025_P->R 0.000199681 60 chr2:216236711:A:G 6096_6002_2001_I->T 0.000199681 60 chr2:216236712:T:C 6096_6001_2001_I->V 0.0159744 60 chr2:216236736:G:T 6096_5977_1993_Q->K 0.000199681 60 chr2:216240021:T:C 6096_5800_1934_I->V 0.000199681 60 chr2:216240041:C:T 6096_5780_1927_R->H 0.000399361 60 chr2:216240093:G:A 6096_5728_1910_R->C 0.000199681 60 chr2:216240111:C:T 6096_5710_1904_D->N 0.000399361 60 chr2:216240113:A:G 6096_5708_1903_I->T 0.000199681 60 chr2:216240361:C:T 6096_5695_1899_A->T 0.000199681 60 chr2:216240375:G:T 6096_5681_1894_P->H 0.00179712 60 chr2:216241271:G:A 6096_5564_1855_T->I 0.000399361 60 chr2:216241343:G:T 6096_5492_1831_T->N 0.000199681 60 chr2:216241347:T:A 6096_5488_1830_I->F 0.000798722 60 chr2:216241388:G:A 6096_5447_1816_P->L 0.000399361 60 chr2:216242938:C:G 6096_5397_1799_L->F 0.000199681 60 chr2:216242949:T:C 6096_5386_1796_K->E 0.000199681 60 chr2:216242957:T:C 6096_5378_1793_Y->C 0.000399361 60 chr2:216243854:A:G 6096_5348_1783_M->T 0.000199681 60 chr2:216243867:C:A 6096_5335_1779_V->L 0.000199681 60 chr2:216243897:T:G 6096_5305_1769_N->H 0.000199681 60 chr2:216243938:C:T 6096_5264_1755_R->Q 0.000199681 60 chr2:216243993:T:C 6096_5209_1737_S->G 0.000399361 60 chr2:216245569:A:G 6096_5126_1709_M->T 0.000199681 60 chr2:216245687:C:T 6096_5008_1670_E->K 0.000199681 60 chr2:216245792:G:T 6096_4903_1635_P->T 0.000199681 60 chr2:216247031:T:C 6096_4795_1599_I->V 0.000199681 60 chr2:216248068:G:A 6096_4760_1587_T->I 0.000199681 60 chr2:216248132:T:C 6096_4696_1566_S->G 0.000199681 60 chr2:216248174:C:T 6096_4654_1552_D->N 0.000199681 60 chr2:216248812:C:T 6096_4552_1518_V->M 0.000199681 60 chr2:216248836:G:A 6096_4528_1510_P->S 0.000399361 60 chr2:216248878:C:T 6096_4486_1496_V->M 0.000998403 60 chr2:216248902:T:C 6096_4462_1488_N->D 0.000199681 60 chr2:216249655:T:C 6096_4384_1462_T->A 0.000199681 60 chr2:216249658:G:C 6096_4381_1461_P->A 0.000199681 60 chr2:216249663:G:A 6096_4376_1459_A->V 0.000199681 60 chr2:216249687:G:A 6096_4352_1451_P->L 0.000199681 60 chr2:216251421:G:T 6096_4330_1444_Q->K 0.000199681 60 chr2:216251465:A:C 6096_4286_1429_V->G 0.0 60 chr2:216251538:G:A 6096_4213_1405_R->W 0.00279553 60 chr2:216251580:G:A 6096_4171_1391_R->C 0.00139776 60 chr2:216251630:A:G 6096_4121_1374_F->S 0.000199681 60 chr2:216251667:T:C 6096_4084_1362_T->A 0.000199681 60 chr2:216256388:T:C 6096_3946_1316_I->V 0.00479233 60 chr2:216256394:A:C 6096_3940_1314_L->V 0.000399361 60 chr2:216256402:A:G 6096_3932_1311_V->A 0.000199681 60 chr2:216259262:G:T 6096_3785_1262_T->N 0.000199681 60 chr2:216259357:G:T 6096_3690_1230_S->R 0.000199681 60 chr2:216261932:T:C 6096_3532_1178_T->A 0.00139776 60 chr2:216262429:G:A 6096_3491_1164_A->V 0.000399361 60 chr2:216262454:G:C 6096_3466_1156_L->V 0.000199681 60 chr2:216262505:C:T 6096_3415_1139_V->I 0.000199681 60 chr2:216262556:T:G 6096_3364_1122_S->R 0.000199681 60 chr2:216264005:G:A 6096_3323_1108_T->M 0.000199681 60 chr2:216264021:T:G 6096_3307_1103_I->L 0.00838658 60 chr2:216264069:G:A 6096_3259_1087_P->S 0.000199681 60 chr2:216269133:C:T 6096_3232_1078_A->T 0.000199681 60 chr2:216269166:C:T 6096_3199_1067_V->M 0.000199681 60 chr2:216269207:A:T 6096_3158_1053_L->Q 0.000199681 60 chr2:216269235:C:T 6096_3130_1044_V->M 0.000599042 60 chr2:216269247:T:C 6096_3118_1040_R->G 0.00159744 60 chr2:216271068:G:C 6096_2879_960_T->S 0.000199681 60 chr2:216271170:A:G 6096_2777_926_M->T 0.000199681 60 chr2:216272843:C:A 6096_2506_836_A->S 0.000199681 60 chr2:216272900:T:G 6096_2449_817_T->P 0.0002 60 chr2:216272920:G:A 6096_2429_810_A->V 0.000199681 60 chr2:216273090:T:A 6096_2359_787_I->F 0.000399361 60 chr2:216274415:T:C 6096_2170_724_T->A 0.000199681 60 chr2:216274441:G:A 6096_2144_715_T->M 0.00119808 60 chr2:216274454:C:T 6096_2131_711_V->M 0.000199681 60 chr2:216274456:G:A 6096_2129_710_T->I 0.00638978 60 chr2:216274797:C:T 6096_1982_661_G->D 0.000199681 60 chr2:216274812:T:G 6096_1967_656_E->A 0.000199681 60 chr2:216279624:T:C 6096_1877_626_H->R 0.000199681 60 chr2:216279628:A:T 6096_1873_625_S->T 0.000199681 60 chr2:216279642:G:A 6096_1859_620_P->L 0.0 60 chr2:216284003:A:G 6096_1781_594_I->T 0.000399361 60 chr2:216284009:C:T 6096_1775_592_R->H 0.000599042 60 chr2:216284069:A:G 6096_1715_572_I->T 0.000599042 60 chr2:216284099:T:G 6096_1685_562_Q->P 0.000199681 60 chr2:216285446:T:C 6096_1625_542_N->S 0.000199681 60 chr2:216286852:C:T 6096_1508_503_R->H 0.000199681 60 chr2:216286912:T:C 6096_1448_483_Q->R 0.000199681 60 chr2:216288219:T:C 6096_1247_416_N->S 0.000599042 60 chr2:216288896:T:C 6096_1189_397_K->E 0.000199681 60 chr2:216289012:T:C 6096_1073_358_E->G 0.000399361 60 chr2:216289015:C:T 6096_1070_357_G->E 0.00119808 60 chr2:216289819:G:A 6096_1034_345_T->I 0.000199681 60 chr2:216292996:T:A 6096_751_251_N->Y 0.000199681 60 chr2:216293022:A:G 6096_725_242_I->T 0.000199681 60 chr2:216295531:C:T 6096_592_198_G->R 0.000199681 60 chr2:216296589:T:C 6096_514_172_N->D 0.000399361 60 chr2:216296636:C:G 6096_467_156_R->T 0.000199681 60 chr2:216298050:C:T 6096_412_138_A->T 0.000199681 60 chr2:216298059:A:G 6096_403_135_C->R 0.000199681 60 chr2:216298080:C:T 6096_382_128_A->T 0.000199681 60 chr2:216298149:T:G 6096_313_105_T->P 0.000199681 60 chr2:216299481:T:C 6096_215_72_N->S 0.000199681 60 chr2:216299494:T:A 6096_202_68_T->S 0.00139776 60 chr2:216299547:G:A 6096_149_50_P->L 0.000199681 60 chr2:216300383:C:T 6096_143_48_S->N 0.000199681 60 chr2:216300405:A:C 6096_121_41_S->A 0.00658946 60 chr2:216300417:C:T 6096_109_37_V->I 0.000199681 60 chr2:216300470:G:A 6096_56_19_T->I 0.0081869 60 chr2:216300482:T:A 6096_44_15_Q->L 0.204872 60 chr2:216300486:C:G 6096_40_14_V->L 0.00479233 60 chr2:216300497:A:G 6096_29_10_L->P 0.000199681 60 na12878 Variants: 60 chr2:216272900:T:G 6096_2449_817_T->P 60 chr2:216300482:T:A 6096_44_15_Q->L 60 snyder Variants: 60 chr2:216272900:T:G 6096_2449_817_T->P 60 chr2:216300482:T:A 6096_44_15_Q->L 61 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115677_ENST00000391975 gene_Name: VIGLN_HUMAN 61 list of pdbs: 61 2CTM pdb_description: 24-Nov-05 NMR 20 Solution structure of the 14th kh type i domain from human vigilin 61 2CTL pdb_description: 24-Nov-05 NMR 20 Solution structure of the 13th kh type i domain from human vigilin 61 2CTK pdb_description: 24-Nov-05 NMR 20 Solution structure of the 12th kh type i domain from human vigilin 61 2CTJ pdb_description: 24-Nov-05 NMR 20 Solution structure of the 8th kh type i domain from human vigilin 61 2CTF pdb_description: 24-Nov-05 NMR 20 Solution structure of the 4th kh type i domain from human vigilin 61 2CTE pdb_description: 24-Nov-05 NMR 20 Solution structure of the 1st kh type i domain from human vigilin 61 1VIH pdb_description: 03-Apr-96 NMR 1 Nmr study of vigilin, repeat 6, minimized average structure 61 1VIG pdb_description: 03-Apr-96 NMR 40 Nmr study of vigilin, repeat 6, 40 structures 61 Zimmer Variants: 61 chr2:242203916:A:C 3807_181_61_S->A 61 chr2:242192848:T:C 3807_1253_418_N->S 61 HGMD Variants: 61 chr2:242186202:C:A 3807_1915_639_A->S 61 oneKG Variants: 61 chr2:242169039:G:C 3807_3784_1262_L->V 0.000199681 61 chr2:242169255:C:T 3807_3713_1238_S->N 0.000199681 61 chr2:242170188:T:A 3807_3460_1154_M->L 0.000199681 61 chr2:242170245:C:G 3807_3403_1135_D->H 0.000199681 61 chr2:242176041:C:T 3807_2893_965_E->K 0.000199681 61 chr2:242176050:C:A 3807_2884_962_A->S 0.000798722 61 chr2:242176107:C:T 3807_2827_943_G->S 0.000199681 61 chr2:242179073:C:G 3807_2554_852_A->P 0.000199681 61 chr2:242179509:C:T 3807_2198_733_R->H 0.00658946 61 chr2:242181924:G:A 3807_2120_707_S->L 0.000399361 61 chr2:242181970:C:T 3807_2074_692_V->M 0.000399361 61 chr2:242186499:A:G 3807_1790_597_I->T 0.000199681 61 chr2:242189362:A:G 3807_1406_469_V->A 0.000199681 61 chr2:242192422:T:G 3807_1322_441_N->T 0.000399361 61 chr2:242192848:T:C 3807_1253_418_N->S 0.13778 61 chr2:242192849:T:G 3807_1252_418_N->H 0.000199681 61 chr2:242192881:T:C 3807_1220_407_K->R 0.000399361 61 chr2:242194540:G:C 3807_1114_372_P->A 0.000199681 61 chr2:242194554:G:C 3807_1100_367_S->C 0.000199681 61 chr2:242194558:C:T 3807_1096_366_V->I 0.000399361 61 chr2:242194884:C:T 3807_985_329_V->I 0.000399361 61 chr2:242195693:G:A 3807_779_260_P->L 0.000199681 61 chr2:242195719:C:G 3807_753_251_E->D 0.0061901 61 chr2:242195730:T:C 3807_742_248_I->V 0.000199681 61 chr2:242195731:C:G 3807_741_247_E->D 0.000399361 61 chr2:242195787:C:T 3807_685_229_V->I 0.000998403 61 chr2:242195802:C:T 3807_670_224_V->M 0.000199681 61 chr2:242195808:G:A 3807_664_222_R->C 0.000199681 61 chr2:242202149:T:C 3807_427_143_I->V 0.000199681 61 chr2:242203910:C:A 3807_187_63_A->S 0.000998403 61 chr2:242203916:A:C,G 3807_181_61_S->A 0.000399 61 chr2:242203916:A:C,G 3807_181_61_S->P 0.000399 61 chr2:242204015:T:C 3807_82_28_T->A 0.00279553 61 na12878 Variants: 61 chr2:242203916:A:C 3807_181_61_S->A 61 snyder Variants: 61 chr2:242203916:A:C 3807_181_61_S->A 62 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115677_ENST00000391976 gene_Name: VIGLN_HUMAN 62 list of pdbs: 62 2CTM pdb_description: 24-Nov-05 NMR 20 Solution structure of the 14th kh type i domain from human vigilin 62 2CTL pdb_description: 24-Nov-05 NMR 20 Solution structure of the 13th kh type i domain from human vigilin 62 2CTK pdb_description: 24-Nov-05 NMR 20 Solution structure of the 12th kh type i domain from human vigilin 62 2CTJ pdb_description: 24-Nov-05 NMR 20 Solution structure of the 8th kh type i domain from human vigilin 62 2CTF pdb_description: 24-Nov-05 NMR 20 Solution structure of the 4th kh type i domain from human vigilin 62 2CTE pdb_description: 24-Nov-05 NMR 20 Solution structure of the 1st kh type i domain from human vigilin 62 1VIH pdb_description: 03-Apr-96 NMR 1 Nmr study of vigilin, repeat 6, minimized average structure 62 1VIG pdb_description: 03-Apr-96 NMR 40 Nmr study of vigilin, repeat 6, 40 structures 62 Zimmer Variants: 62 chr2:242203916:A:C 3807_181_61_S->A;HUB=PPI®GNEG=Yes;GENE=HDLBP;CDSS=4 62 chr2:242192848:T:C 3807_1253_418_N->S;HUB=PPI®GNEG=Yes;GENE=HDLBP;CDSS=3 62 HGMD Variants: 62 chr2:242186202:C:A 3807_1915_639_A->S 62 oneKG Variants: 62 chr2:242169039:G:C 3807_3784_1262_L->V 0.000199681 62 chr2:242169255:C:T 3807_3713_1238_S->N 0.000199681 62 chr2:242170188:T:A 3807_3460_1154_M->L 0.000199681 62 chr2:242170245:C:G 3807_3403_1135_D->H 0.000199681 62 chr2:242176041:C:T 3807_2893_965_E->K 0.000199681 62 chr2:242176050:C:A 3807_2884_962_A->S 0.000798722 62 chr2:242176107:C:T 3807_2827_943_G->S 0.000199681 62 chr2:242179073:C:G 3807_2554_852_A->P 0.000199681 62 chr2:242179509:C:T 3807_2198_733_R->H 0.00658946 62 chr2:242181924:G:A 3807_2120_707_S->L 0.000399361 62 chr2:242181970:C:T 3807_2074_692_V->M 0.000399361 62 chr2:242186499:A:G 3807_1790_597_I->T 0.000199681 62 chr2:242189362:A:G 3807_1406_469_V->A 0.000199681 62 chr2:242192422:T:G 3807_1322_441_N->T 0.000399361 62 chr2:242192848:T:C 3807_1253_418_N->S 0.13778 62 chr2:242192849:T:G 3807_1252_418_N->H 0.000199681 62 chr2:242192881:T:C 3807_1220_407_K->R 0.000399361 62 chr2:242194540:G:C 3807_1114_372_P->A 0.000199681 62 chr2:242194554:G:C 3807_1100_367_S->C 0.000199681 62 chr2:242194558:C:T 3807_1096_366_V->I 0.000399361 62 chr2:242194884:C:T 3807_985_329_V->I 0.000399361 62 chr2:242195693:G:A 3807_779_260_P->L 0.000199681 62 chr2:242195719:C:G 3807_753_251_E->D 0.0061901 62 chr2:242195730:T:C 3807_742_248_I->V 0.000199681 62 chr2:242195731:C:G 3807_741_247_E->D 0.000399361 62 chr2:242195787:C:T 3807_685_229_V->I 0.000998403 62 chr2:242195802:C:T 3807_670_224_V->M 0.000199681 62 chr2:242195808:G:A 3807_664_222_R->C 0.000199681 62 chr2:242202149:T:C 3807_427_143_I->V 0.000199681 62 chr2:242203910:C:A 3807_187_63_A->S 0.000998403 62 chr2:242203916:A:C,G 3807_181_61_S->A,2 0.000399 62 chr2:242203916:A:C,G 3807_181_61_S->P 0.000399 62 chr2:242204015:T:C 3807_82_28_T->A 0.00279553 62 na12878 Variants: 62 chr2:242203916:A:C 3807_181_61_S->A 62 snyder Variants: 62 chr2:242203916:A:C 3807_181_61_S->A 63 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115677_ENST00000310931 gene_Name: VIGLN_HUMAN 63 list of pdbs: 63 2CTM pdb_description: 24-Nov-05 NMR 20 Solution structure of the 14th kh type i domain from human vigilin 63 2CTL pdb_description: 24-Nov-05 NMR 20 Solution structure of the 13th kh type i domain from human vigilin 63 2CTK pdb_description: 24-Nov-05 NMR 20 Solution structure of the 12th kh type i domain from human vigilin 63 2CTJ pdb_description: 24-Nov-05 NMR 20 Solution structure of the 8th kh type i domain from human vigilin 63 2CTF pdb_description: 24-Nov-05 NMR 20 Solution structure of the 4th kh type i domain from human vigilin 63 2CTE pdb_description: 24-Nov-05 NMR 20 Solution structure of the 1st kh type i domain from human vigilin 63 1VIH pdb_description: 03-Apr-96 NMR 1 Nmr study of vigilin, repeat 6, minimized average structure 63 1VIG pdb_description: 03-Apr-96 NMR 40 Nmr study of vigilin, repeat 6, 40 structures 63 Zimmer Variants: 63 chr2:242203916:A:C 3807_181_61_S->A 63 chr2:242192848:T:C 3807_1253_418_N->S 63 HGMD Variants: 63 chr2:242186202:C:A 3807_1915_639_A->S 63 oneKG Variants: 63 chr2:242169039:G:C 3807_3784_1262_L->V 0.000199681 63 chr2:242169255:C:T 3807_3713_1238_S->N 0.000199681 63 chr2:242170188:T:A 3807_3460_1154_M->L 0.000199681 63 chr2:242170245:C:G 3807_3403_1135_D->H 0.000199681 63 chr2:242176041:C:T 3807_2893_965_E->K 0.000199681 63 chr2:242176050:C:A 3807_2884_962_A->S 0.000798722 63 chr2:242176107:C:T 3807_2827_943_G->S 0.000199681 63 chr2:242179073:C:G 3807_2554_852_A->P 0.000199681 63 chr2:242179509:C:T 3807_2198_733_R->H 0.00658946 63 chr2:242181924:G:A 3807_2120_707_S->L 0.000399361 63 chr2:242181970:C:T 3807_2074_692_V->M 0.000399361 63 chr2:242186499:A:G 3807_1790_597_I->T 0.000199681 63 chr2:242189362:A:G 3807_1406_469_V->A 0.000199681 63 chr2:242192422:T:G 3807_1322_441_N->T 0.000399361 63 chr2:242192848:T:C 3807_1253_418_N->S 0.13778 63 chr2:242192849:T:G 3807_1252_418_N->H 0.000199681 63 chr2:242192881:T:C 3807_1220_407_K->R 0.000399361 63 chr2:242194540:G:C 3807_1114_372_P->A 0.000199681 63 chr2:242194554:G:C 3807_1100_367_S->C 0.000199681 63 chr2:242194558:C:T 3807_1096_366_V->I 0.000399361 63 chr2:242194884:C:T 3807_985_329_V->I 0.000399361 63 chr2:242195693:G:A 3807_779_260_P->L 0.000199681 63 chr2:242195719:C:G 3807_753_251_E->D 0.0061901 63 chr2:242195730:T:C 3807_742_248_I->V 0.000199681 63 chr2:242195731:C:G 3807_741_247_E->D 0.000399361 63 chr2:242195787:C:T 3807_685_229_V->I 0.000998403 63 chr2:242195802:C:T 3807_670_224_V->M 0.000199681 63 chr2:242195808:G:A 3807_664_222_R->C 0.000199681 63 chr2:242202149:T:C 3807_427_143_I->V 0.000199681 63 chr2:242203910:C:A 3807_187_63_A->S 0.000998403 63 chr2:242203916:A:C,G 3807_181_61_S->A 0.000399 63 chr2:242203916:A:C,G 3807_181_61_S->P 0.000399 63 chr2:242204015:T:C 3807_82_28_T->A 0.00279553 63 na12878 Variants: 63 chr2:242203916:A:C 3807_181_61_S->A 63 snyder Variants: 63 chr2:242203916:A:C 3807_181_61_S->A 64 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115677_ENST00000427183 gene_Name: VIGLN_HUMAN 64 list of pdbs: 64 2CTM pdb_description: 24-Nov-05 NMR 20 Solution structure of the 14th kh type i domain from human vigilin 64 2CTL pdb_description: 24-Nov-05 NMR 20 Solution structure of the 13th kh type i domain from human vigilin 64 2CTK pdb_description: 24-Nov-05 NMR 20 Solution structure of the 12th kh type i domain from human vigilin 64 2CTJ pdb_description: 24-Nov-05 NMR 20 Solution structure of the 8th kh type i domain from human vigilin 64 2CTF pdb_description: 24-Nov-05 NMR 20 Solution structure of the 4th kh type i domain from human vigilin 64 2CTE pdb_description: 24-Nov-05 NMR 20 Solution structure of the 1st kh type i domain from human vigilin 64 1VIH pdb_description: 03-Apr-96 NMR 1 Nmr study of vigilin, repeat 6, minimized average structure 64 1VIG pdb_description: 03-Apr-96 NMR 40 Nmr study of vigilin, repeat 6, 40 structures 64 Zimmer Variants: 64 chr2:242203916:A:C 3708_289_97_S->A 64 chr2:242192848:T:C 3708_1154_385_N->S 64 HGMD Variants: 64 chr2:242186202:C:A 3708_1816_606_A->S 64 oneKG Variants: 64 chr2:242169039:G:C 3708_3685_1229_L->V 0.000199681 64 chr2:242169255:C:T 3708_3614_1205_S->N 0.000199681 64 chr2:242170188:T:A 3708_3361_1121_M->L 0.000199681 64 chr2:242170245:C:G 3708_3304_1102_D->H 0.000199681 64 chr2:242176041:C:T 3708_2794_932_E->K 0.000199681 64 chr2:242176050:C:A 3708_2785_929_A->S 0.000798722 64 chr2:242176107:C:T 3708_2728_910_G->S 0.000199681 64 chr2:242179073:C:G 3708_2455_819_A->P 0.000199681 64 chr2:242179509:C:T 3708_2099_700_R->H 0.00658946 64 chr2:242181924:G:A 3708_2021_674_S->L 0.000399361 64 chr2:242181970:C:T 3708_1975_659_V->M 0.000399361 64 chr2:242186499:A:G 3708_1691_564_I->T 0.000199681 64 chr2:242189362:A:G 3708_1307_436_V->A 0.000199681 64 chr2:242192422:T:G 3708_1223_408_N->T 0.000399361 64 chr2:242192848:T:C 3708_1154_385_N->S 0.13778 64 chr2:242192849:T:G 3708_1153_385_N->H 0.000199681 64 chr2:242192881:T:C 3708_1121_374_K->R 0.000399361 64 chr2:242194540:G:C 3708_1015_339_P->A 0.000199681 64 chr2:242194554:G:C 3708_1001_334_S->C 0.000199681 64 chr2:242194558:C:T 3708_997_333_V->I 0.000399361 64 chr2:242195693:G:A 3708_887_296_P->L 0.000199681 64 chr2:242195719:C:G 3708_861_287_E->D 0.0061901 64 chr2:242195730:T:C 3708_850_284_I->V 0.000199681 64 chr2:242195731:C:G 3708_849_283_E->D 0.000399361 64 chr2:242195787:C:T 3708_793_265_V->I 0.000998403 64 chr2:242195802:C:T 3708_778_260_V->M 0.000199681 64 chr2:242195808:G:A 3708_772_258_R->C 0.000199681 64 chr2:242202149:T:C 3708_535_179_I->V 0.000199681 64 chr2:242203910:C:A 3708_295_99_A->S 0.000998403 64 chr2:242203916:A:C,G 3708_289_97_S->A 0.000399 64 chr2:242203916:A:C,G 3708_289_97_S->P 0.000399 64 chr2:242204015:T:C 3708_190_64_T->A 0.00279553 64 chr2:242206296:C:T 3708_97_33_V->M 0.000199681 64 chr2:242206311:C:T 3708_82_28_G->R 0.00139776 64 chr2:242206316:A:C 3708_77_26_F->C 0.000199681 64 chr2:242207024:T:A 3708_40_14_T->S 0.00259585 64 na12878 Variants: 64 chr2:242203916:A:C 3708_289_97_S->A 64 chr2:242206311:C:T 3708_82_28_G->R 64 snyder Variants: 64 chr2:242203916:A:C 3708_289_97_S->A 65 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000171094_ENST00000389048 gene_Name: ALK_HUMAN 65 list of pdbs: 65 4JOA pdb_description: 17-Jul-13 X-ray 2.700 Crystal structure of human anaplastic lymphoma kinase in com 7-azaindole based inhibitor 65 4FOD pdb_description: 11-Jul-12 X-ray 2.000 Crystal structure of human anaplastic lymphoma kinase in com acyliminobenzimidazole inhibitor 36 65 4FOC pdb_description: 11-Jul-12 X-ray 1.700 Crystal structure of human anaplastic lymphoma kinase in com acyliminobenzimidazole inhibitor 2 65 4FOB pdb_description: 11-Jul-12 X-ray 1.900 Crystal structure of human anaplastic lymphoma kinase in com acyliminobenzimidazole inhibitor 1 65 4FNZ pdb_description: 29-Aug-12 X-ray 2.600 Crystal structure of human anaplastic lymphoma kinase in com piperidine-carboxamide inhibitor 2 65 4FNY pdb_description: 29-Aug-12 X-ray 2.450 Crystal structure of the r1275q anaplastic lymphoma kinasE C domain in complex with a benzoxazole inhibitor 65 4FNX pdb_description: 29-Aug-12 X-ray 1.700 Crystal structure of the apo r1275q anaplastic lymphoma kina catalytic domain 65 4FNW pdb_description: 29-Aug-12 X-ray 1.750 Crystal structure of the apo f1174l anaplastic lymphoma kina catalytic domain 65 4DCE pdb_description: 08-Feb-12 X-ray 2.030 Crystal structure of human anaplastic lymphoma kinase in com a piperidine-carboxamide inhibitor 65 4ANS pdb_description: 27-Mar-13 X-ray 1.850 Structure of l1196m,g1269a double mutant anaplastic lymphoma kinase in complex with crizotinib 65 4ANQ pdb_description: 27-Mar-13 X-ray 1.760 Structure of g1269a mutant anaplastic lymphoma kinase in complex with crizotinib 65 4ANL pdb_description: 27-Mar-13 X-ray 1.700 Structure of g1269a mutant anaplastic lymphoma kinase 65 3LCT pdb_description: 04-Aug-10 X-ray 2.100 Crystal structure of the anaplastic lymphoma kinase catalyti 65 3LCS pdb_description: 04-Aug-10 X-ray 1.950 Crystal structure of the anaplastic lymphoma kinase catalyti 65 3L9P pdb_description: 28-Jul-10 X-ray 1.800 Crystal structure of the anaplastic lymphoma kinase catalyti 65 3AOX pdb_description: 25-May-11 X-ray 1.750 X-ray crystal structure of human anaplastic lymphoma kinase with ch5424802 65 2YT2 pdb_description: 08-Apr-08 NMR 20 Solution structure of the chimera of the ptb domain of snt-2 residue peptide (aa 1571-1589) of halk 65 2YS5 pdb_description: 08-Apr-08 NMR 20 Solution structure of the complex of the ptb domain of snt-2 residue peptide (aa 1571-1589) of halk 65 2YJS pdb_description: 06-Jun-12 X-ray 1.900 Structure of c1156y mutant anaplastic lymphoma kinase 65 2YJR pdb_description: 06-Jun-12 X-ray 1.900 Structure of f1174l mutant anaplastic lymphoma kinase 65 2YHV pdb_description: 18-May-11 X-ray 1.900 Structure of l1196m mutant anaplastic lymphoma kinase 65 2YFX pdb_description: 04-May-11 X-ray 1.700 Structure of l1196m mutant anaplastic lymphoma kinase in complex with crizotinib 65 2XP2 pdb_description: 15-Sep-10 X-ray 1.900 Structure of the human anaplastic lymphoma kinase in complex with crizotinib (pf-02341066) 65 2XBA pdb_description: 28-Jul-10 X-ray 1.950 Structure of human anaplastic lymphoma kinase in complex with pha-e429 65 2XB7 pdb_description: 28-Jul-10 X-ray 2.500 Structure of human anaplastic lymphoma kinase in complex wit tae684 65 2KUQ pdb_description: 26-May-10 NMR 20 Solution structure of the chimera of the ptb domain of snt-2 residue peptide (aa 1571-1589) of halk 65 2KUP pdb_description: 26-May-10 NMR 20 Solution structure of the complex of the ptb domain of snt-2 residue peptide (aa 1571-1589) of halk 65 Zimmer Variants: 65 chr2:29416698:C:T 4863_4255_1419_E->K;HUB=PPI;GNEG=Yes;GENE=ALK;CANG=[actionable][cancer];CDSS=4;DBRECUR=ALK 65 chr2:29416572:T:C 4863_4381_1461_I->V 65 HGMD Variants: 65 chr2:29432664:C:T 4863_3824_1275_R->Q 65 chr2:29432739:A:G 4863_3749_1250_I->T 65 chr2:29436860:A:C 4863_3733_1245_F->V 65 chr2:29443642:C:G 4863_3575_1192_R->P 65 chr2:29443697:A:C 4863_3520_1174_F->V 65 chr2:29445273:G:C 4863_3452_1151_T->R 65 chr2:29445273:G:A 4863_3452_1151_T->M 65 chr2:29445450:C:G 4863_3383_1128_G->A 65 chr2:29446307:G:A 4863_3260_1087_T->I 65 oneKG Variants: 65 chr2:29917875:C:A 4863_793_265_E->* 0.000199681 65 chr2:29416117:C:G,T 4863_4836_1612_K->N 0.000399361 65 chr2:29416157:G:T 4863_4796_1599_P->H 0.000399361 65 chr2:29416160:G:A 4863_4793_1598_A->V 0.000399361 65 chr2:29416301:G:A 4863_4652_1551_P->L 0.000199681 65 chr2:29416307:C:A 4863_4646_1549_R->I 0.000199681 65 chr2:29416359:T:C 4863_4594_1532_N->D 0.000199681 65 chr2:29416366:G:C 4863_4587_1529_D->E 0.427117 65 chr2:29416380:T:C 4863_4573_1525_K->E 0.000998403 65 chr2:29416473:C:T 4863_4480_1494_G->R 0.00159744 65 chr2:29416479:C:T 4863_4474_1492_V->I 0.000199681 65 chr2:29416481:T:C 4863_4472_1491_K->R 0.415136 65 chr2:29416499:G:A 4863_4454_1485_P->L 0.000199681 65 chr2:29416520:A:G 4863_4433_1478_M->T 0.000399361 65 chr2:29416537:T:A 4863_4416_1472_E->D 0.000199681 65 chr2:29416542:C:T 4863_4411_1471_V->M 0.000199681 65 chr2:29416572:T:C 4863_4381_1461_I->V 0.007788 65 chr2:29416578:C:A 4863_4375_1459_A->S 0.000599042 65 chr2:29416613:G:A 4863_4340_1447_T->I 0.000599042 65 chr2:29416646:C:T 4863_4307_1436_R->H 0.000399361 65 chr2:29416667:T:C 4863_4286_1429_Q->R 0.000199681 65 chr2:29416694:C:T 4863_4259_1420_G->E 0.000199681 65 chr2:29416698:C:T 4863_4255_1419_E->K 0.000599042 65 chr2:29416716:C:T 4863_4237_1413_V->M 0.000399361 65 chr2:29416752:A:G 4863_4201_1401_Y->H 0.000199681 65 chr2:29416760:G:A 4863_4193_1398_P->L 0.000199681 65 chr2:29416767:C:T 4863_4186_1396_A->T 0.000199681 65 chr2:29419686:C:G 4863_4114_1372_D->H 0.000199681 65 chr2:29420441:C:T 4863_4040_1347_R->Q 0.000399361 65 chr2:29420497:C:T 4863_3984_1328_M->I 0.000199681 65 chr2:29430136:G:A 4863_3839_1280_A->V 0.000399361 65 chr2:29436850:C:T 4863_3743_1248_R->Q 0.000199681 65 chr2:29436901:C:T 4863_3692_1231_R->Q 0.000399361 65 chr2:29436947:T:C 4863_3646_1216_S->G 0.000199681 65 chr2:29443594:A:G 4863_3623_1208_L->P 0.000199681 65 chr2:29443618:G:C 4863_3599_1200_A->G 0.000199681 65 chr2:29443643:G:A 4863_3574_1192_R->W 0.000199681 65 chr2:29445215:G:C 4863_3510_1170_I->M 0.000199681 65 chr2:29446235:A:G 4863_3332_1111_V->A 0.000199681 65 chr2:29446273:A:T 4863_3294_1098_F->L 0.000199681 65 chr2:29446307:G:A 4863_3260_1087_T->I 0.000399361 65 chr2:29446385:C:T 4863_3182_1061_R->Q 0.000199681 65 chr2:29448360:C:T 4863_3139_1047_A->T 0.000798722 65 chr2:29448366:C:T 4863_3133_1045_V->M 0.000199681 65 chr2:29448401:A:T 4863_3098_1033_L->H 0.000199681 65 chr2:29448414:G:C 4863_3085_1029_P->A 0.000399361 65 chr2:29448419:G:A 4863_3080_1027_P->L 0.000399361 65 chr2:29449820:G:A 4863_3035_1012_T->M 0.00199681 65 chr2:29449926:C:T 4863_2929_977_G->R 0.000199681 65 chr2:29451930:C:T 4863_2635_879_G->S 0.000199681 65 chr2:29455199:A:T 4863_2603_868_L->Q 0.000199681 65 chr2:29455205:G:A 4863_2597_866_S->L 0.000199681 65 chr2:29455225:C:G 4863_2577_859_E->D 0.000399361 65 chr2:29455242:C:T 4863_2560_854_D->N 0.000798722 65 chr2:29455248:T:C 4863_2554_852_K->E 0.000199681 65 chr2:29455250:G:A 4863_2552_851_A->V 0.000199681 65 chr2:29456502:G:A 4863_2416_806_R->C 0.000399361 65 chr2:29456522:T:C 4863_2396_799_N->S 0.000199681 65 chr2:29456551:T:G 4863_2367_789_L->F 0.000199681 65 chr2:29462557:C:T 4863_2344_782_A->T 0.000199681 65 chr2:29462626:C:T 4863_2275_759_V->M 0.000199681 65 chr2:29462643:C:A 4863_2258_753_R->L 0.000199681 65 chr2:29474026:C:T 4863_2149_717_E->K 0.000199681 65 chr2:29474048:G:T 4863_2127_709_N->K 0.00399361 65 chr2:29497967:G:A 4863_2039_680_T->I 0.00998403 65 chr2:29497995:G:A 4863_2011_671_P->S 0.00259585 65 chr2:29498007:C:T 4863_1999_667_G->R 0.000399361 65 chr2:29498019:C:T 4863_1987_663_E->K 0.000199681 65 chr2:29498063:G:A 4863_1943_648_T->I 0.00319489 65 chr2:29498088:C:T 4863_1918_640_G->R 0.000199681 65 chr2:29519902:G:C 4863_1669_557_R->G 0.000199681 65 chr2:29541240:A:T 4863_1577_526_V->D 0.000199681 65 chr2:29543635:G:A 4863_1528_510_R->W 0.000199681 65 chr2:29543736:A:G 4863_1427_476_V->A 0.0159744 65 chr2:29551279:G:C 4863_1351_451_L->V 0.000199681 65 chr2:29606603:C:G 4863_1277_426_S->T 0.000399361 65 chr2:29606646:G:A 4863_1234_412_R->C 0.000199681 65 chr2:29606665:T:A 4863_1215_405_E->D 0.000798722 65 chr2:29606678:C:T 4863_1202_401_R->Q 0.000199681 65 chr2:29754787:T:A 4863_1148_383_K->M 0.000199681 65 chr2:29754824:C:T 4863_1111_371_A->T 0.000599042 65 chr2:29754904:T:A 4863_1031_344_H->L 0.000199681 65 chr2:29917728:C:T 4863_940_314_E->K 0.000199681 65 chr2:29917736:C:T 4863_932_311_R->H 0.000399361 65 chr2:29917738:C:A 4863_930_310_E->D 0.000199681 65 chr2:29917782:C:G 4863_886_296_E->Q 0.000399361 65 chr2:29917793:C:T 4863_875_292_R->H 0.000199681 65 chr2:29917796:C:T 4863_872_291_R->H 0.000199681 65 chr2:29917835:G:A 4863_833_278_P->L 0.000199681 65 chr2:29940455:C:T 4863_776_259_R->H 0.00119808 65 chr2:29940508:A:C 4863_723_241_F->L 0.000199681 65 chr2:29940512:T:C 4863_719_240_Y->C 0.000399361 65 chr2:30142865:C:G 4863_661_221_G->R 0.000199681 65 chr2:30142910:C:T 4863_616_206_A->T 0.000199681 65 chr2:30142934:C:T 4863_592_198_V->M 0.000798722 65 chr2:30142951:T:C 4863_575_192_E->G 0.000199681 65 chr2:30143039:C:A 4863_487_163_V->L 0.00119808 65 chr2:30143054:G:T 4863_472_158_P->T 0.000199681 65 chr2:30143176:G:C 4863_350_117_P->R 0.000199681 65 chr2:30143216:G:A 4863_310_104_P->S 0.000199681 65 chr2:30143386:G:A 4863_140_47_S->L 0.000399361 65 chr2:30143432:G:C 4863_94_32_P->A 0.000399361 65 chr2:30143479:G:T 4863_47_16_T->K 0.000199681 65 na12878 Variants: 65 chr2:29455199:A:T 4863_2603_868_L->Q 65 chr2:29497967:G:A 4863_2039_680_T->I 65 chr2:29416366:G:C 4863_4587_1529_D->E 65 chr2:29416481:T:C 4863_4472_1491_K->R 65 chr2:29416572:T:C 4863_4381_1461_I->V 65 snyder Variants: 65 chr2:29543736:A:G 4863_1427_476_V->A 65 chr2:29416366:G:C 4863_4587_1529_D->E 65 chr2:29416481:T:C 4863_4472_1491_K->R 65 chr2:29416572:T:C 4863_4381_1461_I->V 66 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125845_ENST00000378827 gene_Name: BMP2_HUMAN 66 list of pdbs: 66 3BMP pdb_description: 12-Mar-00 X-ray 2.700 Human bone morphogenetic protein-2 (bmp-2) 66 3BK3 pdb_description: 27-May-08 X-ray 2.700 Crystal structure of the complex of bmp-2 and the first von willebrand domain typE C of crossveinless-2 66 2QJB pdb_description: 15-Jan-08 X-ray 2.500 Crystal structure analysis of bmp-2 in complex with bmpr-ia ia/ib 66 2QJA pdb_description: 15-Jan-08 X-ray 2.600 Crystal structure analysis of bmp-2 in complex with bmpr-ia b12 66 2QJ9 pdb_description: 15-Jan-08 X-ray 2.440 Crystal structure analysis of bmp-2 in complex with bmpr-ia 66 2H64 pdb_description: 10-Apr-07 X-ray 1.920 Crystal structure of a ternary ligand-receptor complex of bmp-2 66 1REW pdb_description: 04-May-04 X-ray 1.860 Structural refinement of the complex of bone morphogenetic p and its type ia receptor 66 1REU pdb_description: 04-May-04 X-ray 2.650 Structure of the bone morphogenetic protein 2 mutant l51p 66 1ES7 pdb_description: 07-Oct-00 X-ray 2.900 Complex between bmp-2 and two bmp receptor ia ectodomains 66 2H62 pdb_description: 10-Apr-07 X-ray 1.850 Crystal structure of a ternary ligand-receptor complex of bmp-2 66 Zimmer Variants: 66 chr20:6759115:A:T 1191_570_190_R->S;HUB=PPI;GNEG=Yes;GENE=BMP2;CDSS=4 66 HGMD Variants: 66 chr20:6750882:T:G 1191_109_37_S->A 66 chr20:6759115:A:T 1191_570_190_R->S 66 oneKG Variants: 66 chr20:6750787:C:G 1191_14_5_T->S 0.000199681 66 chr20:6750861:C:T 1191_88_30_R->C 0.000199681 66 chr20:6750882:T:G 1191_109_37_S->A 0.0297524 66 chr20:6750952:T:C 1191_179_60_M->T 0.000399361 66 chr20:6751089:G:A 1191_316_106_A->T 0.000399361 66 chr20:6758916:C:T 1191_371_124_T->M 0.000199681 66 chr20:6758938:A:T 1191_393_131_R->S 0.000199681 66 chr20:6758958:C:A 1191_413_138_S->Y 0.000199681 66 chr20:6759006:G:A 1191_461_154_R->Q 0.000199681 66 chr20:6759011:C:G 1191_466_156_Q->E 0.000199681 66 chr20:6759027:T:C 1191_482_161_L->S 0.000199681 66 chr20:6759081:C:T 1191_536_179_P->L 0.000199681 66 chr20:6759096:C:T 1191_551_184_S->L 0.000199681 66 chr20:6759107:G:A 1191_562_188_V->M 0.000199681 66 chr20:6759115:A:T 1191_570_190_R->S 0.233227 66 chr20:6759134:G:C 1191_589_197_V->L 0.000199681 66 chr20:6759333:T:C 1191_788_263_L->S 0.000199681 66 chr20:6759351:A:G 1191_806_269_H->R 0.000599042 66 chr20:6759524:G:A 1191_979_327_G->R 0.000199681 66 chr20:6759585:C:T 1191_1040_347_T->M 0.000599042 66 chr20:6759629:G:A 1191_1084_362_V->I 0.000199681 66 na12878 Variants: 66 chr20:6759115:A:T 1191_570_190_R->S 66 snyder Variants: 66 chr20:6759115:A:T 1191_570_190_R->S 67 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000065534_ENST00000360772 gene_Name: MYLK_HUMAN 67 list of pdbs: 67 2YR3 pdb_description: 02-Oct-07 NMR 20 Solution structure of the fourth ig-like domain from myosin light chain kinase, smooth muscle 67 2CQV pdb_description: 20-Nov-05 NMR 20 Solution structure of the eighth ig-like domain of human myosin light chain kinase 67 2K0F pdb_description: 10-Jun-08 NMR 160 Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase 67 Zimmer Variants: 67 chr3:123451773:G:C 5592_1486_496_L->V 67 chr3:123457893:G:A 5592_439_147_P->S 67 HGMD Variants: 67 chr3:123366252:G:A 5592_4438_1480_R->* 67 chr3:123339147:A:G 5592_5122_1708_S->P 67 chr3:123339162:C:T 5592_5107_1703_A->T 67 chr3:123376066:C:T 5592_4195_1399_E->K 67 chr3:123401086:C:T 5592_3637_1213_V->M 67 chr3:123457893:G:A 5592_439_147_P->S 67 chr3:123512627:G:T 5592_62_21_P->H 67 oneKG Variants: 67 chr3:123452942:G:A 5592_901_301_Q->* 0.000199681 67 chr3:123332995:G:A 5592_5549_1850_T->M 0.000199681 67 chr3:123333077:C:T 5592_5467_1823_G->R 0.000199681 67 chr3:123333092:T:C 5592_5452_1818_I->V 0.000199681 67 chr3:123333111:G:C 5592_5433_1811_D->E 0.000399361 67 chr3:123337545:G:A 5592_5288_1763_T->I 0.00259585 67 chr3:123339054:C:T 5592_5215_1739_E->K 0.000399361 67 chr3:123339083:G:A 5592_5186_1729_P->L 0.000199681 67 chr3:123339117:C:T 5592_5152_1718_G->S 0.000199681 67 chr3:123345771:G:A 5592_4979_1660_T->M 0.000199681 67 chr3:123356964:C:T 5592_4915_1639_G->S 0.000599042 67 chr3:123356997:C:T 5592_4882_1628_V->M 0.000998403 67 chr3:123357035:G:A 5592_4844_1615_A->V 0.000199681 67 chr3:123366097:C:G 5592_4593_1531_K->N 0.000998403 67 chr3:123366170:C:T 5592_4520_1507_R->Q 0.000199681 67 chr3:123366171:G:A 5592_4519_1507_R->W 0.000199681 67 chr3:123366233:G:A 5592_4457_1486_T->I 0.000199681 67 chr3:123367884:C:T 5592_4349_1450_R->Q 0.00519169 67 chr3:123367885:G:A 5592_4348_1450_R->W 0.000199681 67 chr3:123375991:C:T 5592_4270_1424_V->I 0.000199681 67 chr3:123375994:T:C 5592_4267_1423_T->A 0.000199681 67 chr3:123376066:C:T 5592_4195_1399_E->K 0.000798722 67 chr3:123376108:G:A 5592_4153_1385_R->C 0.000199681 67 chr3:123376251:G:T 5592_4010_1337_T->K 0.000199681 67 chr3:123376274:A:C 5592_3987_1329_D->E 0.00499201 67 chr3:123383039:C:T 5592_3898_1300_A->T 0.00139776 67 chr3:123383069:C:T 5592_3868_1290_E->K 0.000798722 67 chr3:123383082:C:A 5592_3855_1285_K->N 0.000199681 67 chr3:123385073:C:T 5592_3824_1275_R->Q 0.000199681 67 chr3:123385146:C:T 5592_3751_1251_A->T 0.000199681 67 chr3:123385191:T:C 5592_3706_1236_M->V 0.000798722 67 chr3:123411611:G:A 5592_3536_1179_A->V 0.000199681 67 chr3:123418893:G:C 5592_3422_1141_T->S 0.000199681 67 chr3:123419005:G:C 5592_3310_1104_L->V 0.000199681 67 chr3:123419029:T:A 5592_3286_1096_T->S 0.000199681 67 chr3:123419034:T:A 5592_3281_1094_Q->L 0.000199681 67 chr3:123419062:T:C 5592_3253_1085_T->A 0.063099 67 chr3:123419073:T:C 5592_3242_1081_H->R 0.00299521 67 chr3:123419094:T:A 5592_3221_1074_D->V 0.000199681 67 chr3:123419118:T:C 5592_3197_1066_E->G 0.000199681 67 chr3:123419283:G:A 5592_3032_1011_S->F 0.000199681 67 chr3:123419359:C:G 5592_2956_986_G->R 0.000199681 67 chr3:123419416:C:T 5592_2899_967_V->M 0.000399361 67 chr3:123419454:C:T 5592_2861_954_R->H 0.000399361 67 chr3:123419466:T:C 5592_2849_950_Q->R 0.000199681 67 chr3:123419554:C:T 5592_2761_921_E->K 0.000199681 67 chr3:123419573:G:T 5592_2742_914_D->E 0.226038 67 chr3:123419574:T:C 5592_2741_914_D->G 0.000199681 67 chr3:123419575:C:T 5592_2740_914_D->N 0.000199681 67 chr3:123419622:C:T 5592_2693_898_R->Q 0.000199681 67 chr3:123419652:C:T 5592_2663_888_R->H 0.000199681 67 chr3:123419660:C:G 5592_2655_885_E->D 0.000199681 67 chr3:123419688:C:T 5592_2627_876_R->H 0.000599042 67 chr3:123419733:A:G 5592_2582_861_L->P 0.278954 67 chr3:123419782:G:A 5592_2533_845_R->C 0.0451278 67 chr3:123419830:C:T 5592_2485_829_E->K 0.000599042 67 chr3:123420322:G:T 5592_2425_809_L->M 0.000199681 67 chr3:123426623:C:T 5592_2368_790_G->S 0.000399361 67 chr3:123426686:C:T 5592_2305_769_E->K 0.000199681 67 chr3:123426757:G:A 5592_2234_745_A->V 0.000199681 67 chr3:123426764:C:T 5592_2227_743_A->T 0.000399361 67 chr3:123426842:C:A 5592_2149_717_D->Y 0.00239617 67 chr3:123427553:G:A 5592_2132_711_T->M 0.000199681 67 chr3:123427571:C:T 5592_2114_705_R->H 0.000199681 67 chr3:123427572:G:A 5592_2113_705_R->C 0.00119808 67 chr3:123427584:C:T 5592_2101_701_A->T 0.00499201 67 chr3:123427662:C:T 5592_2023_675_G->R 0.000599042 67 chr3:123427694:T:C 5592_1991_664_Q->R 0.000199681 67 chr3:123427717:C:A 5592_1968_656_W->C 0.000399361 67 chr3:123427733:G:A 5592_1952_651_P->L 0.000199681 67 chr3:123441086:C:T 5592_1693_565_V->M 0.000399361 67 chr3:123444811:C:T 5592_1631_544_R->Q 0.000399361 67 chr3:123444812:G:A 5592_1630_544_R->W 0.000399361 67 chr3:123444917:C:T 5592_1525_509_V->M 0.000399361 67 chr3:123451743:T:C 5592_1516_506_R->G 0.00439297 67 chr3:123451773:G:C 5592_1486_496_L->V 0.000998 67 chr3:123451787:T:C 5592_1472_491_N->S 0.000199681 67 chr3:123451799:C:T 5592_1460_487_C->Y 0.000199681 67 chr3:123451932:G:A 5592_1327_443_P->S 0.0071885 67 chr3:123451944:C:T 5592_1315_439_G->R 0.000199681 67 chr3:123451949:A:G 5592_1310_437_V->A 0.000199681 67 chr3:123452630:T:C 5592_1213_405_M->V 0.000199681 67 chr3:123452711:G:C 5592_1132_378_R->G 0.000798722 67 chr3:123452795:C:T 5592_1048_350_A->T 0.000199681 67 chr3:123452836:G:A 5592_1007_336_P->L 0.00139776 67 chr3:123452845:G:A 5592_998_333_P->L 0.000199681 67 chr3:123452860:G:A 5592_983_328_S->L 0.000399361 67 chr3:123452960:T:C 5592_883_295_K->E 0.000199681 67 chr3:123453061:A:G 5592_782_261_V->A 0.301917 67 chr3:123456251:G:C 5592_728_243_S->W 0.000199681 67 chr3:123456263:G:A 5592_716_239_S->L 0.000399361 67 chr3:123456339:C:T 5592_640_214_G->S 0.000199681 67 chr3:123456344:T:C 5592_635_212_K->R 0.000199681 67 chr3:123456362:C:A 5592_617_206_R->L 0.000199681 67 chr3:123456363:G:A 5592_616_206_R->C 0.000599042 67 chr3:123457853:G:C 5592_479_160_P->R 0.00459265 67 chr3:123457878:G:A 5592_454_152_R->C 0.000199681 67 chr3:123457893:G:A 5592_439_147_P->S 0.14377 67 chr3:123457908:C:G 5592_424_142_D->H 0.000199681 67 chr3:123458803:A:G 5592_419_140_L->S 0.000199681 67 chr3:123458823:C:A 5592_399_133_Q->H 0.000599042 67 chr3:123458839:G:A 5592_383_128_A->V 0.0101837 67 chr3:123458840:C:T 5592_382_128_A->T 0.00359425 67 chr3:123471183:A:G 5592_368_123_V->A 0.000199681 67 chr3:123471207:C:T 5592_344_115_R->H 0.000199681 67 chr3:123471211:C:T 5592_340_114_A->T 0.000199681 67 chr3:123471291:C:T 5592_260_87_G->E 0.000998403 67 chr3:123471301:C:T 5592_250_84_G->S 0.000199681 67 chr3:123471318:C:T 5592_233_78_R->H 0.000399361 67 chr3:123471319:G:A 5592_232_78_R->C 0.000199681 67 chr3:123471381:C:T 5592_170_57_R->Q 0.000199681 67 chr3:123512620:T:A 5592_69_23_R->S 0.000399361 67 chr3:123512627:G:T 5592_62_21_P->H 0.197284 67 na12878 Variants: 67 chr3:123451773:G:C 5592_1486_496_L->V 67 chr3:123457893:G:A 5592_439_147_P->S 67 snyder Variants: 67 chr3:123451773:G:C 5592_1486_496_L->V 67 chr3:123451932:G:A 5592_1327_443_P->S 67 chr3:123457893:G:A 5592_439_147_P->S 68 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000065534_ENST00000360304 gene_Name: MYLK_HUMAN 68 list of pdbs: 68 2YR3 pdb_description: 02-Oct-07 NMR 20 Solution structure of the fourth ig-like domain from myosin light chain kinase, smooth muscle 68 2CQV pdb_description: 20-Nov-05 NMR 20 Solution structure of the eighth ig-like domain of human myosin light chain kinase 68 2K0F pdb_description: 10-Jun-08 NMR 160 Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase 68 Zimmer Variants: 68 chr3:123451773:G:C 5745_1486_496_L->V 68 chr3:123457893:G:A 5745_439_147_P->S 68 HGMD Variants: 68 chr3:123366252:G:A 5745_4438_1480_R->* 68 chr3:123339147:A:G 5745_5275_1759_S->P 68 chr3:123339162:C:T 5745_5260_1754_A->T 68 chr3:123376066:C:T 5745_4195_1399_E->K 68 chr3:123401086:C:T 5745_3637_1213_V->M 68 chr3:123457893:G:A 5745_439_147_P->S 68 chr3:123512627:G:T 5745_62_21_P->H 68 oneKG Variants: 68 chr3:123452942:G:A 5745_901_301_Q->* 0.000199681 68 chr3:123332995:G:A 5745_5702_1901_T->M 0.000199681 68 chr3:123333077:C:T 5745_5620_1874_G->R 0.000199681 68 chr3:123333092:T:C 5745_5605_1869_I->V 0.000199681 68 chr3:123333111:G:C 5745_5586_1862_D->E 0.000399361 68 chr3:123337545:G:A 5745_5441_1814_T->I 0.00259585 68 chr3:123339054:C:T 5745_5368_1790_E->K 0.000399361 68 chr3:123339083:G:A 5745_5339_1780_P->L 0.000199681 68 chr3:123339117:C:T 5745_5305_1769_G->S 0.000199681 68 chr3:123345771:G:A 5745_5132_1711_T->M 0.000199681 68 chr3:123348322:T:G 5745_5113_1705_K->Q 0.000199681 68 chr3:123348367:C:T 5745_5068_1690_D->N 0.000399361 68 chr3:123348420:T:C 5745_5015_1672_N->S 0.000199681 68 chr3:123356964:C:T 5745_4915_1639_G->S 0.000599042 68 chr3:123356997:C:T 5745_4882_1628_V->M 0.000998403 68 chr3:123357035:G:A 5745_4844_1615_A->V 0.000199681 68 chr3:123366097:C:G 5745_4593_1531_K->N 0.000998403 68 chr3:123366170:C:T 5745_4520_1507_R->Q 0.000199681 68 chr3:123366171:G:A 5745_4519_1507_R->W 0.000199681 68 chr3:123366233:G:A 5745_4457_1486_T->I 0.000199681 68 chr3:123367884:C:T 5745_4349_1450_R->Q 0.00519169 68 chr3:123367885:G:A 5745_4348_1450_R->W 0.000199681 68 chr3:123375991:C:T 5745_4270_1424_V->I 0.000199681 68 chr3:123375994:T:C 5745_4267_1423_T->A 0.000199681 68 chr3:123376066:C:T 5745_4195_1399_E->K 0.000798722 68 chr3:123376108:G:A 5745_4153_1385_R->C 0.000199681 68 chr3:123376251:G:T 5745_4010_1337_T->K 0.000199681 68 chr3:123376274:A:C 5745_3987_1329_D->E 0.00499201 68 chr3:123383039:C:T 5745_3898_1300_A->T 0.00139776 68 chr3:123383069:C:T 5745_3868_1290_E->K 0.000798722 68 chr3:123383082:C:A 5745_3855_1285_K->N 0.000199681 68 chr3:123385073:C:T 5745_3824_1275_R->Q 0.000199681 68 chr3:123385146:C:T 5745_3751_1251_A->T 0.000199681 68 chr3:123385191:T:C 5745_3706_1236_M->V 0.000798722 68 chr3:123411611:G:A 5745_3536_1179_A->V 0.000199681 68 chr3:123418893:G:C 5745_3422_1141_T->S 0.000199681 68 chr3:123419005:G:C 5745_3310_1104_L->V 0.000199681 68 chr3:123419029:T:A 5745_3286_1096_T->S 0.000199681 68 chr3:123419034:T:A 5745_3281_1094_Q->L 0.000199681 68 chr3:123419062:T:C 5745_3253_1085_T->A 0.063099 68 chr3:123419073:T:C 5745_3242_1081_H->R 0.00299521 68 chr3:123419094:T:A 5745_3221_1074_D->V 0.000199681 68 chr3:123419118:T:C 5745_3197_1066_E->G 0.000199681 68 chr3:123419283:G:A 5745_3032_1011_S->F 0.000199681 68 chr3:123419359:C:G 5745_2956_986_G->R 0.000199681 68 chr3:123419416:C:T 5745_2899_967_V->M 0.000399361 68 chr3:123419454:C:T 5745_2861_954_R->H 0.000399361 68 chr3:123419466:T:C 5745_2849_950_Q->R 0.000199681 68 chr3:123419554:C:T 5745_2761_921_E->K 0.000199681 68 chr3:123419573:G:T 5745_2742_914_D->E 0.226038 68 chr3:123419574:T:C 5745_2741_914_D->G 0.000199681 68 chr3:123419575:C:T 5745_2740_914_D->N 0.000199681 68 chr3:123419622:C:T 5745_2693_898_R->Q 0.000199681 68 chr3:123419652:C:T 5745_2663_888_R->H 0.000199681 68 chr3:123419660:C:G 5745_2655_885_E->D 0.000199681 68 chr3:123419688:C:T 5745_2627_876_R->H 0.000599042 68 chr3:123419733:A:G 5745_2582_861_L->P 0.278954 68 chr3:123419782:G:A 5745_2533_845_R->C 0.0451278 68 chr3:123419830:C:T 5745_2485_829_E->K 0.000599042 68 chr3:123420322:G:T 5745_2425_809_L->M 0.000199681 68 chr3:123426623:C:T 5745_2368_790_G->S 0.000399361 68 chr3:123426686:C:T 5745_2305_769_E->K 0.000199681 68 chr3:123426757:G:A 5745_2234_745_A->V 0.000199681 68 chr3:123426764:C:T 5745_2227_743_A->T 0.000399361 68 chr3:123426842:C:A 5745_2149_717_D->Y 0.00239617 68 chr3:123427553:G:A 5745_2132_711_T->M 0.000199681 68 chr3:123427571:C:T 5745_2114_705_R->H 0.000199681 68 chr3:123427572:G:A 5745_2113_705_R->C 0.00119808 68 chr3:123427584:C:T 5745_2101_701_A->T 0.00499201 68 chr3:123427662:C:T 5745_2023_675_G->R 0.000599042 68 chr3:123427694:T:C 5745_1991_664_Q->R 0.000199681 68 chr3:123427717:C:A 5745_1968_656_W->C 0.000399361 68 chr3:123427733:G:A 5745_1952_651_P->L 0.000199681 68 chr3:123441086:C:T 5745_1693_565_V->M 0.000399361 68 chr3:123444811:C:T 5745_1631_544_R->Q 0.000399361 68 chr3:123444812:G:A 5745_1630_544_R->W 0.000399361 68 chr3:123444917:C:T 5745_1525_509_V->M 0.000399361 68 chr3:123451743:T:C 5745_1516_506_R->G 0.00439297 68 chr3:123451773:G:C 5745_1486_496_L->V 0.000998 68 chr3:123451787:T:C 5745_1472_491_N->S 0.000199681 68 chr3:123451799:C:T 5745_1460_487_C->Y 0.000199681 68 chr3:123451932:G:A 5745_1327_443_P->S 0.0071885 68 chr3:123451944:C:T 5745_1315_439_G->R 0.000199681 68 chr3:123451949:A:G 5745_1310_437_V->A 0.000199681 68 chr3:123452630:T:C 5745_1213_405_M->V 0.000199681 68 chr3:123452711:G:C 5745_1132_378_R->G 0.000798722 68 chr3:123452795:C:T 5745_1048_350_A->T 0.000199681 68 chr3:123452836:G:A 5745_1007_336_P->L 0.00139776 68 chr3:123452845:G:A 5745_998_333_P->L 0.000199681 68 chr3:123452860:G:A 5745_983_328_S->L 0.000399361 68 chr3:123452960:T:C 5745_883_295_K->E 0.000199681 68 chr3:123453061:A:G 5745_782_261_V->A 0.301917 68 chr3:123456251:G:C 5745_728_243_S->W 0.000199681 68 chr3:123456263:G:A 5745_716_239_S->L 0.000399361 68 chr3:123456339:C:T 5745_640_214_G->S 0.000199681 68 chr3:123456344:T:C 5745_635_212_K->R 0.000199681 68 chr3:123456362:C:A 5745_617_206_R->L 0.000199681 68 chr3:123456363:G:A 5745_616_206_R->C 0.000599042 68 chr3:123457853:G:C 5745_479_160_P->R 0.00459265 68 chr3:123457878:G:A 5745_454_152_R->C 0.000199681 68 chr3:123457893:G:A 5745_439_147_P->S 0.14377 68 chr3:123457908:C:G 5745_424_142_D->H 0.000199681 68 chr3:123458803:A:G 5745_419_140_L->S 0.000199681 68 chr3:123458823:C:A 5745_399_133_Q->H 0.000599042 68 chr3:123458839:G:A 5745_383_128_A->V 0.0101837 68 chr3:123458840:C:T 5745_382_128_A->T 0.00359425 68 chr3:123471183:A:G 5745_368_123_V->A 0.000199681 68 chr3:123471207:C:T 5745_344_115_R->H 0.000199681 68 chr3:123471211:C:T 5745_340_114_A->T 0.000199681 68 chr3:123471291:C:T 5745_260_87_G->E 0.000998403 68 chr3:123471301:C:T 5745_250_84_G->S 0.000199681 68 chr3:123471318:C:T 5745_233_78_R->H 0.000399361 68 chr3:123471319:G:A 5745_232_78_R->C 0.000199681 68 chr3:123471381:C:T 5745_170_57_R->Q 0.000199681 68 chr3:123512620:T:A 5745_69_23_R->S 0.000399361 68 chr3:123512627:G:T 5745_62_21_P->H 0.197284 68 na12878 Variants: 68 chr3:123451773:G:C 5745_1486_496_L->V 68 chr3:123457893:G:A 5745_439_147_P->S 68 snyder Variants: 68 chr3:123451773:G:C 5745_1486_496_L->V 68 chr3:123451932:G:A 5745_1327_443_P->S 68 chr3:123457893:G:A 5745_439_147_P->S 69 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000065534_ENST00000359169 gene_Name: MYLK_HUMAN 69 list of pdbs: 69 2YR3 pdb_description: 02-Oct-07 NMR 20 Solution structure of the fourth ig-like domain from myosin light chain kinase, smooth muscle 69 2CQV pdb_description: 20-Nov-05 NMR 20 Solution structure of the eighth ig-like domain of human myosin light chain kinase 69 2K0F pdb_description: 10-Jun-08 NMR 160 Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase 69 Zimmer Variants: 69 chr3:123451773:G:C 5592_1486_496_L->V 69 chr3:123457893:G:A 5592_439_147_P->S 69 HGMD Variants: 69 chr3:123366252:G:A 5592_4438_1480_R->* 69 chr3:123339147:A:G 5592_5122_1708_S->P 69 chr3:123339162:C:T 5592_5107_1703_A->T 69 chr3:123376066:C:T 5592_4195_1399_E->K 69 chr3:123401086:C:T 5592_3637_1213_V->M 69 chr3:123457893:G:A 5592_439_147_P->S 69 chr3:123512627:G:T 5592_62_21_P->H 69 oneKG Variants: 69 chr3:123452942:G:A 5592_901_301_Q->* 0.000199681 69 chr3:123332995:G:A 5592_5549_1850_T->M 0.000199681 69 chr3:123333077:C:T 5592_5467_1823_G->R 0.000199681 69 chr3:123333092:T:C 5592_5452_1818_I->V 0.000199681 69 chr3:123333111:G:C 5592_5433_1811_D->E 0.000399361 69 chr3:123337545:G:A 5592_5288_1763_T->I 0.00259585 69 chr3:123339054:C:T 5592_5215_1739_E->K 0.000399361 69 chr3:123339083:G:A 5592_5186_1729_P->L 0.000199681 69 chr3:123339117:C:T 5592_5152_1718_G->S 0.000199681 69 chr3:123345771:G:A 5592_4979_1660_T->M 0.000199681 69 chr3:123356964:C:T 5592_4915_1639_G->S 0.000599042 69 chr3:123356997:C:T 5592_4882_1628_V->M 0.000998403 69 chr3:123357035:G:A 5592_4844_1615_A->V 0.000199681 69 chr3:123366097:C:G 5592_4593_1531_K->N 0.000998403 69 chr3:123366170:C:T 5592_4520_1507_R->Q 0.000199681 69 chr3:123366171:G:A 5592_4519_1507_R->W 0.000199681 69 chr3:123366233:G:A 5592_4457_1486_T->I 0.000199681 69 chr3:123367884:C:T 5592_4349_1450_R->Q 0.00519169 69 chr3:123367885:G:A 5592_4348_1450_R->W 0.000199681 69 chr3:123375991:C:T 5592_4270_1424_V->I 0.000199681 69 chr3:123375994:T:C 5592_4267_1423_T->A 0.000199681 69 chr3:123376066:C:T 5592_4195_1399_E->K 0.000798722 69 chr3:123376108:G:A 5592_4153_1385_R->C 0.000199681 69 chr3:123376251:G:T 5592_4010_1337_T->K 0.000199681 69 chr3:123376274:A:C 5592_3987_1329_D->E 0.00499201 69 chr3:123383039:C:T 5592_3898_1300_A->T 0.00139776 69 chr3:123383069:C:T 5592_3868_1290_E->K 0.000798722 69 chr3:123383082:C:A 5592_3855_1285_K->N 0.000199681 69 chr3:123385073:C:T 5592_3824_1275_R->Q 0.000199681 69 chr3:123385146:C:T 5592_3751_1251_A->T 0.000199681 69 chr3:123385191:T:C 5592_3706_1236_M->V 0.000798722 69 chr3:123411611:G:A 5592_3536_1179_A->V 0.000199681 69 chr3:123418893:G:C 5592_3422_1141_T->S 0.000199681 69 chr3:123419005:G:C 5592_3310_1104_L->V 0.000199681 69 chr3:123419029:T:A 5592_3286_1096_T->S 0.000199681 69 chr3:123419034:T:A 5592_3281_1094_Q->L 0.000199681 69 chr3:123419062:T:C 5592_3253_1085_T->A 0.063099 69 chr3:123419073:T:C 5592_3242_1081_H->R 0.00299521 69 chr3:123419094:T:A 5592_3221_1074_D->V 0.000199681 69 chr3:123419118:T:C 5592_3197_1066_E->G 0.000199681 69 chr3:123419283:G:A 5592_3032_1011_S->F 0.000199681 69 chr3:123419359:C:G 5592_2956_986_G->R 0.000199681 69 chr3:123419416:C:T 5592_2899_967_V->M 0.000399361 69 chr3:123419454:C:T 5592_2861_954_R->H 0.000399361 69 chr3:123419466:T:C 5592_2849_950_Q->R 0.000199681 69 chr3:123419554:C:T 5592_2761_921_E->K 0.000199681 69 chr3:123419573:G:T 5592_2742_914_D->E 0.226038 69 chr3:123419574:T:C 5592_2741_914_D->G 0.000199681 69 chr3:123419575:C:T 5592_2740_914_D->N 0.000199681 69 chr3:123419622:C:T 5592_2693_898_R->Q 0.000199681 69 chr3:123419652:C:T 5592_2663_888_R->H 0.000199681 69 chr3:123419660:C:G 5592_2655_885_E->D 0.000199681 69 chr3:123419688:C:T 5592_2627_876_R->H 0.000599042 69 chr3:123419733:A:G 5592_2582_861_L->P 0.278954 69 chr3:123419782:G:A 5592_2533_845_R->C 0.0451278 69 chr3:123419830:C:T 5592_2485_829_E->K 0.000599042 69 chr3:123420322:G:T 5592_2425_809_L->M 0.000199681 69 chr3:123426623:C:T 5592_2368_790_G->S 0.000399361 69 chr3:123426686:C:T 5592_2305_769_E->K 0.000199681 69 chr3:123426757:G:A 5592_2234_745_A->V 0.000199681 69 chr3:123426764:C:T 5592_2227_743_A->T 0.000399361 69 chr3:123426842:C:A 5592_2149_717_D->Y 0.00239617 69 chr3:123427553:G:A 5592_2132_711_T->M 0.000199681 69 chr3:123427571:C:T 5592_2114_705_R->H 0.000199681 69 chr3:123427572:G:A 5592_2113_705_R->C 0.00119808 69 chr3:123427584:C:T 5592_2101_701_A->T 0.00499201 69 chr3:123427662:C:T 5592_2023_675_G->R 0.000599042 69 chr3:123427694:T:C 5592_1991_664_Q->R 0.000199681 69 chr3:123427717:C:A 5592_1968_656_W->C 0.000399361 69 chr3:123427733:G:A 5592_1952_651_P->L 0.000199681 69 chr3:123441086:C:T 5592_1693_565_V->M 0.000399361 69 chr3:123444811:C:T 5592_1631_544_R->Q 0.000399361 69 chr3:123444812:G:A 5592_1630_544_R->W 0.000399361 69 chr3:123444917:C:T 5592_1525_509_V->M 0.000399361 69 chr3:123451743:T:C 5592_1516_506_R->G 0.00439297 69 chr3:123451773:G:C 5592_1486_496_L->V 0.000998 69 chr3:123451787:T:C 5592_1472_491_N->S 0.000199681 69 chr3:123451799:C:T 5592_1460_487_C->Y 0.000199681 69 chr3:123451932:G:A 5592_1327_443_P->S 0.0071885 69 chr3:123451944:C:T 5592_1315_439_G->R 0.000199681 69 chr3:123451949:A:G 5592_1310_437_V->A 0.000199681 69 chr3:123452630:T:C 5592_1213_405_M->V 0.000199681 69 chr3:123452711:G:C 5592_1132_378_R->G 0.000798722 69 chr3:123452795:C:T 5592_1048_350_A->T 0.000199681 69 chr3:123452836:G:A 5592_1007_336_P->L 0.00139776 69 chr3:123452845:G:A 5592_998_333_P->L 0.000199681 69 chr3:123452860:G:A 5592_983_328_S->L 0.000399361 69 chr3:123452960:T:C 5592_883_295_K->E 0.000199681 69 chr3:123453061:A:G 5592_782_261_V->A 0.301917 69 chr3:123456251:G:C 5592_728_243_S->W 0.000199681 69 chr3:123456263:G:A 5592_716_239_S->L 0.000399361 69 chr3:123456339:C:T 5592_640_214_G->S 0.000199681 69 chr3:123456344:T:C 5592_635_212_K->R 0.000199681 69 chr3:123456362:C:A 5592_617_206_R->L 0.000199681 69 chr3:123456363:G:A 5592_616_206_R->C 0.000599042 69 chr3:123457853:G:C 5592_479_160_P->R 0.00459265 69 chr3:123457878:G:A 5592_454_152_R->C 0.000199681 69 chr3:123457893:G:A 5592_439_147_P->S 0.14377 69 chr3:123457908:C:G 5592_424_142_D->H 0.000199681 69 chr3:123458803:A:G 5592_419_140_L->S 0.000199681 69 chr3:123458823:C:A 5592_399_133_Q->H 0.000599042 69 chr3:123458839:G:A 5592_383_128_A->V 0.0101837 69 chr3:123458840:C:T 5592_382_128_A->T 0.00359425 69 chr3:123471183:A:G 5592_368_123_V->A 0.000199681 69 chr3:123471207:C:T 5592_344_115_R->H 0.000199681 69 chr3:123471211:C:T 5592_340_114_A->T 0.000199681 69 chr3:123471291:C:T 5592_260_87_G->E 0.000998403 69 chr3:123471301:C:T 5592_250_84_G->S 0.000199681 69 chr3:123471318:C:T 5592_233_78_R->H 0.000399361 69 chr3:123471319:G:A 5592_232_78_R->C 0.000199681 69 chr3:123471381:C:T 5592_170_57_R->Q 0.000199681 69 chr3:123512620:T:A 5592_69_23_R->S 0.000399361 69 chr3:123512627:G:T 5592_62_21_P->H 0.197284 69 na12878 Variants: 69 chr3:123451773:G:C 5592_1486_496_L->V 69 chr3:123457893:G:A 5592_439_147_P->S 69 snyder Variants: 69 chr3:123451773:G:C 5592_1486_496_L->V 69 chr3:123451932:G:A 5592_1327_443_P->S 69 chr3:123457893:G:A 5592_439_147_P->S 70 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000065534_ENST00000475616 gene_Name: MYLK_HUMAN 70 list of pdbs: 70 2YR3 pdb_description: 02-Oct-07 NMR 20 Solution structure of the fourth ig-like domain from myosin light chain kinase, smooth muscle 70 2CQV pdb_description: 20-Nov-05 NMR 20 Solution structure of the eighth ig-like domain of human myosin light chain kinase 70 2K0F pdb_description: 10-Jun-08 NMR 160 Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase 70 Zimmer Variants: 70 chr3:123451773:G:C 5745_1486_496_L->V;HUB=PHOS&PPI;GNEG=Yes;GENE=MYLK;CDSS=4 70 chr3:123457893:G:A 5745_439_147_P->S;HUB=PHOS&PPI;GNEG=Yes;GENE=MYLK;CDSS=3 70 HGMD Variants: 70 chr3:123366252:G:A 5745_4438_1480_R->* 70 chr3:123339147:A:G 5745_5275_1759_S->P 70 chr3:123339162:C:T 5745_5260_1754_A->T 70 chr3:123376066:C:T 5745_4195_1399_E->K 70 chr3:123401086:C:T 5745_3637_1213_V->M 70 chr3:123457893:G:A 5745_439_147_P->S 70 chr3:123512627:G:T 5745_62_21_P->H 70 oneKG Variants: 70 chr3:123452942:G:A 5745_901_301_Q->* 0.000199681 70 chr3:123332995:G:A 5745_5702_1901_T->M 0.000199681 70 chr3:123333077:C:T 5745_5620_1874_G->R 0.000199681 70 chr3:123333092:T:C 5745_5605_1869_I->V 0.000199681 70 chr3:123333111:G:C 5745_5586_1862_D->E 0.000399361 70 chr3:123337545:G:A 5745_5441_1814_T->I 0.00259585 70 chr3:123339054:C:T 5745_5368_1790_E->K 0.000399361 70 chr3:123339083:G:A 5745_5339_1780_P->L 0.000199681 70 chr3:123339117:C:T 5745_5305_1769_G->S 0.000199681 70 chr3:123345771:G:A 5745_5132_1711_T->M 0.000199681 70 chr3:123348322:T:G 5745_5113_1705_K->Q 0.000199681 70 chr3:123348367:C:T 5745_5068_1690_D->N 0.000399361 70 chr3:123348420:T:C 5745_5015_1672_N->S 0.000199681 70 chr3:123356964:C:T 5745_4915_1639_G->S 0.000599042 70 chr3:123356997:C:T 5745_4882_1628_V->M 0.000998403 70 chr3:123357035:G:A 5745_4844_1615_A->V 0.000199681 70 chr3:123366097:C:G 5745_4593_1531_K->N 0.000998403 70 chr3:123366170:C:T 5745_4520_1507_R->Q 0.000199681 70 chr3:123366171:G:A 5745_4519_1507_R->W 0.000199681 70 chr3:123366233:G:A 5745_4457_1486_T->I 0.000199681 70 chr3:123367884:C:T 5745_4349_1450_R->Q 0.00519169 70 chr3:123367885:G:A 5745_4348_1450_R->W 0.000199681 70 chr3:123375991:C:T 5745_4270_1424_V->I 0.000199681 70 chr3:123375994:T:C 5745_4267_1423_T->A 0.000199681 70 chr3:123376066:C:T 5745_4195_1399_E->K 0.000798722 70 chr3:123376108:G:A 5745_4153_1385_R->C 0.000199681 70 chr3:123376251:G:T 5745_4010_1337_T->K 0.000199681 70 chr3:123376274:A:C 5745_3987_1329_D->E 0.00499201 70 chr3:123383039:C:T 5745_3898_1300_A->T 0.00139776 70 chr3:123383069:C:T 5745_3868_1290_E->K 0.000798722 70 chr3:123383082:C:A 5745_3855_1285_K->N 0.000199681 70 chr3:123385073:C:T 5745_3824_1275_R->Q 0.000199681 70 chr3:123385146:C:T 5745_3751_1251_A->T 0.000199681 70 chr3:123385191:T:C 5745_3706_1236_M->V 0.000798722 70 chr3:123411611:G:A 5745_3536_1179_A->V 0.000199681 70 chr3:123418893:G:C 5745_3422_1141_T->S 0.000199681 70 chr3:123419005:G:C 5745_3310_1104_L->V 0.000199681 70 chr3:123419029:T:A 5745_3286_1096_T->S 0.000199681 70 chr3:123419034:T:A 5745_3281_1094_Q->L 0.000199681 70 chr3:123419062:T:C 5745_3253_1085_T->A 0.063099 70 chr3:123419073:T:C 5745_3242_1081_H->R 0.00299521 70 chr3:123419094:T:A 5745_3221_1074_D->V 0.000199681 70 chr3:123419118:T:C 5745_3197_1066_E->G 0.000199681 70 chr3:123419283:G:A 5745_3032_1011_S->F 0.000199681 70 chr3:123419359:C:G 5745_2956_986_G->R 0.000199681 70 chr3:123419416:C:T 5745_2899_967_V->M 0.000399361 70 chr3:123419454:C:T 5745_2861_954_R->H 0.000399361 70 chr3:123419466:T:C 5745_2849_950_Q->R 0.000199681 70 chr3:123419554:C:T 5745_2761_921_E->K 0.000199681 70 chr3:123419573:G:T 5745_2742_914_D->E 0.226038 70 chr3:123419574:T:C 5745_2741_914_D->G 0.000199681 70 chr3:123419575:C:T 5745_2740_914_D->N 0.000199681 70 chr3:123419622:C:T 5745_2693_898_R->Q 0.000199681 70 chr3:123419652:C:T 5745_2663_888_R->H 0.000199681 70 chr3:123419660:C:G 5745_2655_885_E->D 0.000199681 70 chr3:123419688:C:T 5745_2627_876_R->H 0.000599042 70 chr3:123419733:A:G 5745_2582_861_L->P 0.278954 70 chr3:123419782:G:A 5745_2533_845_R->C 0.0451278 70 chr3:123419830:C:T 5745_2485_829_E->K 0.000599042 70 chr3:123420322:G:T 5745_2425_809_L->M 0.000199681 70 chr3:123426623:C:T 5745_2368_790_G->S 0.000399361 70 chr3:123426686:C:T 5745_2305_769_E->K 0.000199681 70 chr3:123426757:G:A 5745_2234_745_A->V 0.000199681 70 chr3:123426764:C:T 5745_2227_743_A->T 0.000399361 70 chr3:123426842:C:A 5745_2149_717_D->Y 0.00239617 70 chr3:123427553:G:A 5745_2132_711_T->M 0.000199681 70 chr3:123427571:C:T 5745_2114_705_R->H 0.000199681 70 chr3:123427572:G:A 5745_2113_705_R->C 0.00119808 70 chr3:123427584:C:T 5745_2101_701_A->T 0.00499201 70 chr3:123427662:C:T 5745_2023_675_G->R 0.000599042 70 chr3:123427694:T:C 5745_1991_664_Q->R 0.000199681 70 chr3:123427717:C:A 5745_1968_656_W->C 0.000399361 70 chr3:123427733:G:A 5745_1952_651_P->L 0.000199681 70 chr3:123441086:C:T 5745_1693_565_V->M 0.000399361 70 chr3:123444811:C:T 5745_1631_544_R->Q 0.000399361 70 chr3:123444812:G:A 5745_1630_544_R->W 0.000399361 70 chr3:123444917:C:T 5745_1525_509_V->M 0.000399361 70 chr3:123451743:T:C 5745_1516_506_R->G 0.00439297 70 chr3:123451773:G:C 5745_1486_496_L->V 0.000998 70 chr3:123451787:T:C 5745_1472_491_N->S 0.000199681 70 chr3:123451799:C:T 5745_1460_487_C->Y 0.000199681 70 chr3:123451932:G:A 5745_1327_443_P->S 0.0071885 70 chr3:123451944:C:T 5745_1315_439_G->R 0.000199681 70 chr3:123451949:A:G 5745_1310_437_V->A 0.000199681 70 chr3:123452630:T:C 5745_1213_405_M->V 0.000199681 70 chr3:123452711:G:C 5745_1132_378_R->G 0.000798722 70 chr3:123452795:C:T 5745_1048_350_A->T 0.000199681 70 chr3:123452836:G:A 5745_1007_336_P->L 0.00139776 70 chr3:123452845:G:A 5745_998_333_P->L 0.000199681 70 chr3:123452860:G:A 5745_983_328_S->L 0.000399361 70 chr3:123452960:T:C 5745_883_295_K->E 0.000199681 70 chr3:123453061:A:G 5745_782_261_V->A 0.301917 70 chr3:123456251:G:C 5745_728_243_S->W 0.000199681 70 chr3:123456263:G:A 5745_716_239_S->L 0.000399361 70 chr3:123456339:C:T 5745_640_214_G->S 0.000199681 70 chr3:123456344:T:C 5745_635_212_K->R 0.000199681 70 chr3:123456362:C:A 5745_617_206_R->L 0.000199681 70 chr3:123456363:G:A 5745_616_206_R->C 0.000599042 70 chr3:123457853:G:C 5745_479_160_P->R 0.00459265 70 chr3:123457878:G:A 5745_454_152_R->C 0.000199681 70 chr3:123457893:G:A 5745_439_147_P->S 0.14377 70 chr3:123457908:C:G 5745_424_142_D->H 0.000199681 70 chr3:123458803:A:G 5745_419_140_L->S,1 0.000199681 70 chr3:123458823:C:A 5745_399_133_Q->H 0.000599042 70 chr3:123458839:G:A 5745_383_128_A->V,1 0.0101837 70 chr3:123458840:C:T 5745_382_128_A->T,1 0.00359425 70 chr3:123471183:A:G 5745_368_123_V->A 0.000199681 70 chr3:123471207:C:T 5745_344_115_R->H 0.000199681 70 chr3:123471211:C:T 5745_340_114_A->T 0.000199681 70 chr3:123471291:C:T 5745_260_87_G->E 0.000998403 70 chr3:123471301:C:T 5745_250_84_G->S 0.000199681 70 chr3:123471318:C:T 5745_233_78_R->H 0.000399361 70 chr3:123471319:G:A 5745_232_78_R->C 0.000199681 70 chr3:123471381:C:T 5745_170_57_R->Q 0.000199681 70 chr3:123512620:T:A 5745_69_23_R->S 0.000399361 70 chr3:123512627:G:T 5745_62_21_P->H 0.197284 70 na12878 Variants: 70 chr3:123451773:G:C 5745_1486_496_L->V 70 chr3:123457893:G:A 5745_439_147_P->S 70 snyder Variants: 70 chr3:123451773:G:C 5745_1486_496_L->V 70 chr3:123451932:G:A 5745_1327_443_P->S 70 chr3:123457893:G:A 5745_439_147_P->S 71 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000181555_ENST00000409792 gene_Name: SETD2_HUMAN 71 list of pdbs: 71 4H12 pdb_description: 03-Oct-12 X-ray 2.060 The crystal structure of methyltransferase domain of human s containing protein 2 in complex with s-adenosyl-l-homocyste 71 4FMU pdb_description: 05-Sep-12 X-ray 2.100 Crystal structure of methyltransferase domain of human set d containing protein 2 compound: pr-snf 71 2A7O pdb_description: 01-Nov-05 NMR 20 Solution structure of the hset2/hypb sri domain 71 Zimmer Variants: 71 chr3:47125385:G:A 7695_5885_1962_P->L;HUB=PPI;GNEG=Yes;GENE=SETD2;CANG=[cancer];CDSS=4;DBRECUR=SETD2 71 HGMD Variants: 71 chr3:47164944:A:T 7695_1182_394_C->* 71 chr3:47165306:G:A 7695_820_274_Q->* 71 chr3:47205396:G:A 7695_19_7_Q->* 71 chr3:47079245:T:C 7695_7261_2421_T->A 71 chr3:47125826:A:C 7695_5444_1815_L->W 71 chr3:47166005:T:A 7695_121_41_I->F 71 oneKG Variants: 71 chr3:47162312:G:A 7695_3814_1272_Q->* 0.000199681 71 chr3:47162824:C:T 7695_3302_1101_W->* 0.000199681 71 chr3:47163012:A:T 7695_3114_1038_Y->* 0.000199681 71 chr3:47163592:G:C 7695_2534_845_S->* 0.000199681 71 chr3:47164508:G:A 7695_1618_540_R->* 0.000199681 71 chr3:47205396:G:A 7695_19_7_Q->* 0.000599042 71 chr3:47079160:A:C 7695_7346_2449_M->R 0.000199681 71 chr3:47079235:C:T 7695_7271_2424_S->N 0.000199681 71 chr3:47079245:T:C 7695_7261_2421_T->A 0.000399361 71 chr3:47084171:T:C 7695_7118_2373_N->S 0.000199681 71 chr3:47088027:C:T 7695_7048_2350_A->T 0.000399361 71 chr3:47098389:T:C 7695_6885_2295_I->M 0.000199681 71 chr3:47098588:A:C 7695_6686_2229_V->G 0.00499201 71 chr3:47098662:A:T 7695_6612_2204_D->E 0.000199681 71 chr3:47098670:G:C 7695_6604_2202_P->A 0.000199681 71 chr3:47098696:C:T 7695_6578_2193_S->N 0.000199681 71 chr3:47103681:C:T 7695_6265_2089_E->K 0.000199681 71 chr3:47103773:T:C 7695_6173_2058_N->S 0.00219649 71 chr3:47108560:T:C 7695_6109_2037_T->A 0.000998403 71 chr3:47125211:T:C 7695_6059_2020_K->R 0.000199681 71 chr3:47125328:T:C 7695_5942_1981_Q->R 0.000399361 71 chr3:47125385:G:A 7695_5885_1962_P->L 0.469848 71 chr3:47125419:T:C 7695_5851_1951_T->A 0.000199681 71 chr3:47125451:C:T 7695_5819_1940_S->N 0.000399361 71 chr3:47125458:C:T 7695_5812_1938_V->I 0.000798722 71 chr3:47125493:T:C 7695_5777_1926_Q->R 0.000199681 71 chr3:47125601:T:C 7695_5669_1890_D->G 0.000199681 71 chr3:47125604:A:G 7695_5666_1889_M->T 0.000399361 71 chr3:47125674:T:C 7695_5596_1866_T->A 0.000199681 71 chr3:47127713:C:T 7695_5369_1790_R->Q 0.000199681 71 chr3:47129678:C:G 7695_5202_1734_Q->H 0.000199681 71 chr3:47158159:T:G 7695_4540_1514_I->L 0.000199681 71 chr3:47158173:C:T 7695_4526_1509_R->K 0.000199681 71 chr3:47161679:T:C 7695_4447_1483_T->A 0.000199681 71 chr3:47161943:T:C 7695_4183_1395_K->E 0.000199681 71 chr3:47162122:C:T 7695_4004_1335_R->H 0.000199681 71 chr3:47162171:C:A 7695_3955_1319_V->L 0.000199681 71 chr3:47162236:C:T 7695_3890_1297_R->H 0.000199681 71 chr3:47162344:T:C 7695_3782_1261_D->G 0.000199681 71 chr3:47162392:T:C 7695_3734_1245_H->R 0.000199681 71 chr3:47162458:T:C 7695_3668_1223_Q->R 0.000199681 71 chr3:47162469:C:G 7695_3657_1219_Q->H 0.000199681 71 chr3:47162486:T:A 7695_3640_1214_N->Y 0.000199681 71 chr3:47162546:T:C 7695_3580_1194_I->V 0.000399361 71 chr3:47162642:G:A 7695_3484_1162_H->Y 0.000399361 71 chr3:47162668:A:G 7695_3458_1153_I->T 0.000199681 71 chr3:47162686:T:C 7695_3440_1147_Q->R 0.000199681 71 chr3:47162704:G:A 7695_3422_1141_P->L 0.000399361 71 chr3:47162740:T:G 7695_3386_1129_D->A 0.000199681 71 chr3:47162755:G:A 7695_3371_1124_A->V 0.000199681 71 chr3:47162860:C:A 7695_3266_1089_R->L 0.000199681 71 chr3:47162886:C:T 7695_3240_1080_M->I 0.0553115 71 chr3:47162897:T:C 7695_3229_1077_T->A 0.000199681 71 chr3:47162950:C:T 7695_3176_1059_S->N 0.000599042 71 chr3:47162956:T:G 7695_3170_1057_D->A 0.000199681 71 chr3:47163005:A:G 7695_3121_1041_S->P 0.000199681 71 chr3:47163029:T:C 7695_3097_1033_T->A 0.000998403 71 chr3:47163044:G:A 7695_3082_1028_P->S 0.000199681 71 chr3:47163100:A:G 7695_3026_1009_M->T 0.000199681 71 chr3:47163121:G:A 7695_3005_1002_S->F 0.000199681 71 chr3:47163184:A:G 7695_2942_981_L->S 0.000199681 71 chr3:47163275:T:C 7695_2851_951_N->D 0.000199681 71 chr3:47163343:G:C 7695_2783_928_T->R 0.00359425 71 chr3:47163422:C:G 7695_2704_902_E->Q 0.0710863 71 chr3:47163523:T:C 7695_2603_868_D->G 0.00319489 71 chr3:47163583:G:A 7695_2543_848_A->V 0.00858626 71 chr3:47163607:T:C 7695_2519_840_N->S 0.000199681 71 chr3:47163618:A:C 7695_2508_836_C->W 0.000199681 71 chr3:47163671:T:C 7695_2455_819_I->V 0.000199681 71 chr3:47163676:A:G 7695_2450_817_M->T 0.000798722 71 chr3:47163679:A:T 7695_2447_816_V->D 0.000199681 71 chr3:47163812:T:C 7695_2314_772_K->E 0.000199681 71 chr3:47163824:C:G 7695_2302_768_V->L 0.00259585 71 chr3:47163827:T:C 7695_2299_767_T->A 0.000199681 71 chr3:47163843:C:T 7695_2283_761_M->I 0.000199681 71 chr3:47163851:T:C 7695_2275_759_K->E 0.000599042 71 chr3:47163875:G:T 7695_2251_751_P->T 0.00199681 71 chr3:47163971:T:C 7695_2155_719_N->D 0.000599042 71 chr3:47164003:G:A 7695_2123_708_S->F 0.000199681 71 chr3:47164012:G:A 7695_2114_705_S->L 0.000199681 71 chr3:47164030:T:C 7695_2096_699_D->G 0.000199681 71 chr3:47164054:G:A 7695_2072_691_T->I 0.000199681 71 chr3:47164094:C:T 7695_2032_678_G->R 0.000199681 71 chr3:47164102:C:T 7695_2024_675_G->E 0.000399361 71 chr3:47164277:G:A 7695_1849_617_P->S 0.00119808 71 chr3:47164351:G:T 7695_1775_592_T->K 0.00119808 71 chr3:47164390:T:A 7695_1736_579_N->I 0.000199681 71 chr3:47164462:T:G 7695_1664_555_Y->S 0.000199681 71 chr3:47164547:T:C 7695_1579_527_I->V 0.000199681 71 chr3:47164586:G:T 7695_1540_514_L->I 0.000399361 71 chr3:47164700:G:C 7695_1426_476_H->D 0.000199681 71 chr3:47164711:C:T 7695_1415_472_R->H 0.000199681 71 chr3:47164714:C:T 7695_1412_471_R->K 0.000199681 71 chr3:47164783:C:T 7695_1343_448_R->Q 0.000199681 71 chr3:47164829:G:A 7695_1297_433_R->C 0.000399361 71 chr3:47164870:T:C 7695_1256_419_Y->C 0.000399361 71 chr3:47164886:T:C 7695_1240_414_R->G 0.000199681 71 chr3:47164891:C:A 7695_1235_412_G->V 0.000199681 71 chr3:47164921:C:T 7695_1205_402_R->Q 0.000998403 71 chr3:47164924:C:T 7695_1202_401_R->Q 0.000199681 71 chr3:47165140:C:T 7695_986_329_R->Q 0.000199681 71 chr3:47165195:A:C 7695_931_311_S->A 0.000199681 71 chr3:47165215:T:G 7695_911_304_K->T 0.000199681 71 chr3:47165219:T:C 7695_907_303_K->E 0.000399361 71 chr3:47165327:C:T 7695_799_267_V->I 0.000199681 71 chr3:47165342:T:G 7695_784_262_S->R 0.000199681 71 chr3:47165462:G:T 7695_664_222_L->I 0.000399361 71 chr3:47165536:G:A 7695_590_197_A->V 0.000798722 71 chr3:47165548:G:A 7695_578_193_P->L 0.00439297 71 chr3:47165557:G:A 7695_569_190_P->L 0.000399361 71 chr3:47165569:G:A 7695_557_186_P->L 0.0101837 71 chr3:47165603:C:A 7695_523_175_A->S 0.000399361 71 chr3:47165626:G:A 7695_500_167_P->L 0.000199681 71 chr3:47165737:G:T 7695_389_130_S->Y 0.000199681 71 chr3:47165791:G:A 7695_335_112_S->L 0.000199681 71 chr3:47165816:G:T 7695_310_104_P->T 0.000199681 71 chr3:47165854:G:A 7695_272_91_A->V 0.000199681 71 chr3:47165861:G:A 7695_265_89_L->F 0.000199681 71 chr3:47165923:T:C 7695_203_68_Q->R 0.000798722 71 chr3:47165978:C:T 7695_148_50_A->T 0.000199681 71 chr3:47165993:T:C 7695_133_45_M->V 0.000199681 71 na12878 Variants: 71 chr3:47125385:G:A 7695_5885_1962_P->L 71 snyder Variants: 71 chr3:47125385:G:A 7695_5885_1962_P->L 72 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160867_ENST00000292408 gene_Name: FGFR4_HUMAN 72 list of pdbs: 72 1QCT pdb_description: 17-May-99 Theoret model An 'electrostatic sandwich' model for the (fibroblast growth factor receptor-heparin-fibroblast growth factor) dimer 72 Zimmer Variants: 72 chr5:176517797:C:T 2409_407_136_P->L 72 HGMD Variants: 72 chr5:176520243:G:A 2409_1162_388_G->R 72 chr5:176524534:G:A 2409_2266_756_D->N 72 chr5:176524602:C:G 2409_2334_778_S->R 72 oneKG Variants: 72 chr5:176517630:C:T 2409_331_111_Q->* 0.000199681 72 chr5:176516631:G:A 2409_28_10_V->I 0.228834 72 chr5:176516653:C:T 2409_50_17_P->L 0.000399361 72 chr5:176517423:G:A 2409_124_42_E->K 0.000199681 72 chr5:176517442:C:T 2409_143_48_A->V 0.000199681 72 chr5:176517474:C:T 2409_175_59_R->W 0.000399361 72 chr5:176517522:C:T 2409_223_75_P->S 0.000199681 72 chr5:176517552:C:T 2409_253_85_R->C 0.000399361 72 chr5:176517553:G:A 2409_254_85_R->H 0.000199681 72 chr5:176517624:G:A 2409_325_109_V->I 0.000399361 72 chr5:176517766:G:A 2409_376_126_D->N 0.000399361 72 chr5:176517769:G:C 2409_379_127_D->H 0.000399361 72 chr5:176517797:C:T 2409_407_136_P->L 0.192692 72 chr5:176517799:T:C 2409_409_137_S->P 0.000399361 72 chr5:176517800:C:T 2409_410_137_S->L 0.000199681 72 chr5:176518037:A:G 2409_535_179_T->A 0.00798722 72 chr5:176518049:C:A 2409_547_183_R->S 0.000399361 72 chr5:176518050:G:A 2409_548_183_R->H 0.000199681 72 chr5:176518070:G:A 2409_568_190_A->T 0.000199681 72 chr5:176518783:G:A 2409_701_234_R->H 0.000399361 72 chr5:176519390:G:A 2409_796_266_D->N 0.000199681 72 chr5:176519393:G:A 2409_799_267_V->M 0.000199681 72 chr5:176519648:C:T 2409_920_307_T->I 0.000599042 72 chr5:176519710:G:A 2409_982_328_A->T 0.000199681 72 chr5:176519722:A:G 2409_994_332_T->A 0.000199681 72 chr5:176520243:G:A 2409_1162_388_G->R 0.299521 72 chr5:176520253:G:A 2409_1172_391_R->Q 0.000599042 72 chr5:176520270:G:A 2409_1189_397_G->S 0.000199681 72 chr5:176520328:G:A 2409_1247_416_R->Q 0.000199681 72 chr5:176520431:G:A 2409_1276_426_G->S 0.000199681 72 chr5:176520432:G:A 2409_1277_426_G->D 0.000399361 72 chr5:176520442:C:A 2409_1287_429_S->R 0.000798722 72 chr5:176520443:T:C 2409_1288_430_S->P 0.000199681 72 chr5:176520464:C:T 2409_1309_437_R->C 0.000399361 72 chr5:176520465:G:A 2409_1310_437_R->H 0.000399361 72 chr5:176520494:G:A 2409_1339_447_A->T 0.000199681 72 chr5:176520503:G:A 2409_1348_450_V->M 0.000199681 72 chr5:176520539:T:A 2409_1384_462_F->I 0.000399361 72 chr5:176520548:G:A 2409_1393_465_D->N 0.000599042 72 chr5:176520701:G:A 2409_1444_482_V->I 0.000199681 72 chr5:176520704:C:T 2409_1447_483_R->C 0.000199681 72 chr5:176520714:C:T 2409_1457_486_A->V 0.000199681 72 chr5:176520734:C:G 2409_1477_493_R->G 0.000199681 72 chr5:176520761:G:A 2409_1504_502_V->I 0.000199681 72 chr5:176522357:G:A 2409_1546_516_D->N 0.000199681 72 chr5:176522397:G:A 2409_1586_529_R->Q 0.000199681 72 chr5:176522558:G:A 2409_1655_552_C->Y 0.000199681 72 chr5:176522560:G:A 2409_1657_553_A->T 0.000199681 72 chr5:176522566:A:G 2409_1663_555_K->E 0.000199681 72 chr5:176522606:C:A 2409_1703_568_P->Q 0.000399361 72 chr5:176522621:G:T 2409_1718_573_S->I 0.000199681 72 chr5:176522651:C:T 2409_1748_583_P->L 0.000199681 72 chr5:176522675:C:T 2409_1772_591_S->F 0.00139776 72 chr5:176522696:G:A 2409_1793_598_R->Q 0.000199681 72 chr5:176523083:G:T 2409_1847_616_R->L 0.000199681 72 chr5:176523109:G:C 2409_1873_625_V->L 0.000199681 72 chr5:176523736:C:A 2409_2147_716_P->Q 0.000599042 72 chr5:176524297:G:A 2409_2158_720_G->R 0.000199681 72 chr5:176524307:G:A 2409_2168_723_R->H 0.000199681 72 chr5:176524534:G:A 2409_2266_756_D->N 0.000199681 72 chr5:176524540:C:T 2409_2272_758_R->C 0.00159744 72 chr5:176524573:G:A 2409_2305_769_G->R 0.000399361 72 chr5:176524602:C:G 2409_2334_778_S->R 0.000199681 72 chr5:176524607:C:A 2409_2339_780_S->Y 0.000199681 72 chr5:176524654:T:C 2409_2386_796_F->L 0.000199681 72 chr5:176524657:G:C 2409_2389_797_G->R 0.000199681 72 chr5:176524672:A:G 2409_2404_802_T->A 0.000199681 72 na12878 Variants: 72 chr5:176517797:C:T 2409_407_136_P->L 72 chr5:176520243:G:A 2409_1162_388_G->R 72 snyder Variants: 72 chr5:176517797:C:T 2409_407_136_P->L 73 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160867_ENST00000502906 gene_Name: FGFR4_HUMAN 73 list of pdbs: 73 1QCT pdb_description: 17-May-99 Theoret model An 'electrostatic sandwich' model for the (fibroblast growth factor receptor-heparin-fibroblast growth factor) dimer 73 Zimmer Variants: 73 chr5:176517797:C:T 2409_407_136_P->L;HUB=PHOS&PPI;GNEG=Yes;GENE=FGFR4;CANG=[actionable];CDSS=4 73 HGMD Variants: 73 chr5:176520243:G:A 2409_1162_388_G->R 73 chr5:176524534:G:A 2409_2266_756_D->N 73 chr5:176524602:C:G 2409_2334_778_S->R 73 oneKG Variants: 73 chr5:176517630:C:T 2409_331_111_Q->* 0.000199681 73 chr5:176516631:G:A 2409_28_10_V->I 0.228834 73 chr5:176516653:C:T 2409_50_17_P->L 0.000399361 73 chr5:176517423:G:A 2409_124_42_E->K,1 0.000199681 73 chr5:176517442:C:T 2409_143_48_A->V 0.000199681 73 chr5:176517474:C:T 2409_175_59_R->W 0.000399361 73 chr5:176517522:C:T 2409_223_75_P->S 0.000199681 73 chr5:176517552:C:T 2409_253_85_R->C 0.000399361 73 chr5:176517553:G:A 2409_254_85_R->H 0.000199681 73 chr5:176517624:G:A 2409_325_109_V->I 0.000399361 73 chr5:176517766:G:A 2409_376_126_D->N 0.000399361 73 chr5:176517769:G:C 2409_379_127_D->H 0.000399361 73 chr5:176517797:C:T 2409_407_136_P->L 0.192692 73 chr5:176517799:T:C 2409_409_137_S->P 0.000399361 73 chr5:176517800:C:T 2409_410_137_S->L 0.000199681 73 chr5:176518037:A:G 2409_535_179_T->A 0.00798722 73 chr5:176518049:C:A 2409_547_183_R->S 0.000399361 73 chr5:176518050:G:A 2409_548_183_R->H 0.000199681 73 chr5:176518070:G:A 2409_568_190_A->T 0.000199681 73 chr5:176518783:G:A 2409_701_234_R->H 0.000399361 73 chr5:176519390:G:A 2409_796_266_D->N 0.000199681 73 chr5:176519393:G:A 2409_799_267_V->M 0.000199681 73 chr5:176519648:C:T 2409_920_307_T->I 0.000599042 73 chr5:176519710:G:A 2409_982_328_A->T 0.000199681 73 chr5:176519722:A:G 2409_994_332_T->A 0.000199681 73 chr5:176520243:G:A 2409_1162_388_G->R 0.299521 73 chr5:176520253:G:A 2409_1172_391_R->Q 0.000599042 73 chr5:176520270:G:A 2409_1189_397_G->S 0.000199681 73 chr5:176520328:G:A 2409_1247_416_R->Q 0.000199681 73 chr5:176520431:G:A 2409_1276_426_G->S,1 0.000199681 73 chr5:176520432:G:A 2409_1277_426_G->D 0.000399361 73 chr5:176520442:C:A 2409_1287_429_S->R 0.000798722 73 chr5:176520443:T:C 2409_1288_430_S->P,1 0.000199681 73 chr5:176520464:C:T 2409_1309_437_R->C,1 0.000399361 73 chr5:176520465:G:A 2409_1310_437_R->H 0.000399361 73 chr5:176520494:G:A 2409_1339_447_A->T,1 0.000199681 73 chr5:176520503:G:A 2409_1348_450_V->M,1 0.000199681 73 chr5:176520539:T:A 2409_1384_462_F->I 0.000399361 73 chr5:176520548:G:A 2409_1393_465_D->N 0.000599042 73 chr5:176520701:G:A 2409_1444_482_V->I 0.000199681 73 chr5:176520704:C:T 2409_1447_483_R->C 0.000199681 73 chr5:176520714:C:T 2409_1457_486_A->V 0.000199681 73 chr5:176520734:C:G 2409_1477_493_R->G 0.000199681 73 chr5:176520761:G:A 2409_1504_502_V->I 0.000199681 73 chr5:176522357:G:A 2409_1546_516_D->N 0.000199681 73 chr5:176522397:G:A 2409_1586_529_R->Q 0.000199681 73 chr5:176522558:G:A 2409_1655_552_C->Y 0.000199681 73 chr5:176522560:G:A 2409_1657_553_A->T 0.000199681 73 chr5:176522566:A:G 2409_1663_555_K->E 0.000199681 73 chr5:176522606:C:A 2409_1703_568_P->Q 0.000399361 73 chr5:176522621:G:T 2409_1718_573_S->I 0.000199681 73 chr5:176522651:C:T 2409_1748_583_P->L 0.000199681 73 chr5:176522675:C:T 2409_1772_591_S->F 0.00139776 73 chr5:176522696:G:A 2409_1793_598_R->Q 0.000199681 73 chr5:176523083:G:T 2409_1847_616_R->L 0.000199681 73 chr5:176523109:G:C 2409_1873_625_V->L 0.000199681 73 chr5:176523736:C:A 2409_2147_716_P->Q 0.000599042 73 chr5:176524297:G:A 2409_2158_720_G->R 0.000199681 73 chr5:176524307:G:A 2409_2168_723_R->H 0.000199681 73 chr5:176524534:G:A 2409_2266_756_D->N 0.000199681 73 chr5:176524540:C:T 2409_2272_758_R->C 0.00159744 73 chr5:176524573:G:A 2409_2305_769_G->R 0.000399361 73 chr5:176524602:C:G 2409_2334_778_S->R 0.000199681 73 chr5:176524607:C:A 2409_2339_780_S->Y 0.000199681 73 chr5:176524654:T:C 2409_2386_796_F->L 0.000199681 73 chr5:176524657:G:C 2409_2389_797_G->R 0.000199681 73 chr5:176524672:A:G 2409_2404_802_T->A 0.000199681 73 na12878 Variants: 73 chr5:176517797:C:T 2409_407_136_P->L 73 chr5:176520243:G:A 2409_1162_388_G->R 73 snyder Variants: 73 chr5:176517797:C:T 2409_407_136_P->L 74 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160867_ENST00000292410 gene_Name: FGFR4_HUMAN 74 list of pdbs: 74 1QCT pdb_description: 17-May-99 Theoret model An 'electrostatic sandwich' model for the (fibroblast growth factor receptor-heparin-fibroblast growth factor) dimer 74 Zimmer Variants: 74 chr5:176517797:C:T 2289_407_136_P->L 74 HGMD Variants: 74 chr5:176524534:G:A 2289_2146_716_D->N 74 chr5:176524602:C:G 2289_2214_738_S->R 74 oneKG Variants: 74 chr5:176517630:C:T 2289_331_111_Q->* 0.000199681 74 chr5:176516631:G:A 2289_28_10_V->I 0.228834 74 chr5:176516653:C:T 2289_50_17_P->L 0.000399361 74 chr5:176517423:G:A 2289_124_42_E->K 0.000199681 74 chr5:176517442:C:T 2289_143_48_A->V 0.000199681 74 chr5:176517474:C:T 2289_175_59_R->W 0.000399361 74 chr5:176517522:C:T 2289_223_75_P->S 0.000199681 74 chr5:176517552:C:T 2289_253_85_R->C 0.000399361 74 chr5:176517553:G:A 2289_254_85_R->H 0.000199681 74 chr5:176517624:G:A 2289_325_109_V->I 0.000399361 74 chr5:176517766:G:A 2289_376_126_D->N 0.000399361 74 chr5:176517769:G:C 2289_379_127_D->H 0.000399361 74 chr5:176517797:C:T 2289_407_136_P->L 0.192692 74 chr5:176517799:T:C 2289_409_137_S->P 0.000399361 74 chr5:176517800:C:T 2289_410_137_S->L 0.000199681 74 chr5:176518037:A:G 2289_535_179_T->A 0.00798722 74 chr5:176518049:C:A 2289_547_183_R->S 0.000399361 74 chr5:176518050:G:A 2289_548_183_R->H 0.000199681 74 chr5:176518070:G:A 2289_568_190_A->T 0.000199681 74 chr5:176518783:G:A 2289_701_234_R->H 0.000399361 74 chr5:176519390:G:A 2289_796_266_D->N 0.000199681 74 chr5:176519393:G:A 2289_799_267_V->M 0.000199681 74 chr5:176519648:C:T 2289_920_307_T->I 0.000599042 74 chr5:176519710:G:A 2289_982_328_A->T 0.000199681 74 chr5:176519722:A:G 2289_994_332_T->A 0.000199681 74 chr5:176520431:G:A 2289_1156_386_G->S 0.000199681 74 chr5:176520432:G:A 2289_1157_386_G->D 0.000399361 74 chr5:176520442:C:A 2289_1167_389_S->R 0.000798722 74 chr5:176520443:T:C 2289_1168_390_S->P 0.000199681 74 chr5:176520464:C:T 2289_1189_397_R->C 0.000399361 74 chr5:176520465:G:A 2289_1190_397_R->H 0.000399361 74 chr5:176520494:G:A 2289_1219_407_A->T 0.000199681 74 chr5:176520503:G:A 2289_1228_410_V->M 0.000199681 74 chr5:176520539:T:A 2289_1264_422_F->I 0.000399361 74 chr5:176520548:G:A 2289_1273_425_D->N 0.000599042 74 chr5:176520701:G:A 2289_1324_442_V->I 0.000199681 74 chr5:176520704:C:T 2289_1327_443_R->C 0.000199681 74 chr5:176520714:C:T 2289_1337_446_A->V 0.000199681 74 chr5:176520734:C:G 2289_1357_453_R->G 0.000199681 74 chr5:176520761:G:A 2289_1384_462_V->I 0.000199681 74 chr5:176522357:G:A 2289_1426_476_D->N 0.000199681 74 chr5:176522397:G:A 2289_1466_489_R->Q 0.000199681 74 chr5:176522558:G:A 2289_1535_512_C->Y 0.000199681 74 chr5:176522560:G:A 2289_1537_513_A->T 0.000199681 74 chr5:176522566:A:G 2289_1543_515_K->E 0.000199681 74 chr5:176522606:C:A 2289_1583_528_P->Q 0.000399361 74 chr5:176522621:G:T 2289_1598_533_S->I 0.000199681 74 chr5:176522651:C:T 2289_1628_543_P->L 0.000199681 74 chr5:176522675:C:T 2289_1652_551_S->F 0.00139776 74 chr5:176522696:G:A 2289_1673_558_R->Q 0.000199681 74 chr5:176523083:G:T 2289_1727_576_R->L 0.000199681 74 chr5:176523109:G:C 2289_1753_585_V->L 0.000199681 74 chr5:176523736:C:A 2289_2027_676_P->Q 0.000599042 74 chr5:176524297:G:A 2289_2038_680_G->R 0.000199681 74 chr5:176524307:G:A 2289_2048_683_R->H 0.000199681 74 chr5:176524534:G:A 2289_2146_716_D->N 0.000199681 74 chr5:176524540:C:T 2289_2152_718_R->C 0.00159744 74 chr5:176524573:G:A 2289_2185_729_G->R 0.000399361 74 chr5:176524602:C:G 2289_2214_738_S->R 0.000199681 74 chr5:176524607:C:A 2289_2219_740_S->Y 0.000199681 74 chr5:176524654:T:C 2289_2266_756_F->L 0.000199681 74 chr5:176524657:G:C 2289_2269_757_G->R 0.000199681 74 chr5:176524672:A:G 2289_2284_762_T->A 0.000199681 74 na12878 Variants: 74 chr5:176517797:C:T 2289_407_136_P->L 74 snyder Variants: 74 chr5:176517797:C:T 2289_407_136_P->L 75 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160867_ENST00000393637 gene_Name: FGFR4_HUMAN 75 list of pdbs: 75 1QCT pdb_description: 17-May-99 Theoret model An 'electrostatic sandwich' model for the (fibroblast growth factor receptor-heparin-fibroblast growth factor) dimer 75 Zimmer Variants: 75 chr5:176517797:C:T 2289_407_136_P->L 75 HGMD Variants: 75 chr5:176524534:G:A 2289_2146_716_D->N 75 chr5:176524602:C:G 2289_2214_738_S->R 75 oneKG Variants: 75 chr5:176517630:C:T 2289_331_111_Q->* 0.000199681 75 chr5:176516631:G:A 2289_28_10_V->I 0.228834 75 chr5:176516653:C:T 2289_50_17_P->L 0.000399361 75 chr5:176517423:G:A 2289_124_42_E->K 0.000199681 75 chr5:176517442:C:T 2289_143_48_A->V 0.000199681 75 chr5:176517474:C:T 2289_175_59_R->W 0.000399361 75 chr5:176517522:C:T 2289_223_75_P->S 0.000199681 75 chr5:176517552:C:T 2289_253_85_R->C 0.000399361 75 chr5:176517553:G:A 2289_254_85_R->H 0.000199681 75 chr5:176517624:G:A 2289_325_109_V->I 0.000399361 75 chr5:176517766:G:A 2289_376_126_D->N 0.000399361 75 chr5:176517769:G:C 2289_379_127_D->H 0.000399361 75 chr5:176517797:C:T 2289_407_136_P->L 0.192692 75 chr5:176517799:T:C 2289_409_137_S->P 0.000399361 75 chr5:176517800:C:T 2289_410_137_S->L 0.000199681 75 chr5:176518037:A:G 2289_535_179_T->A 0.00798722 75 chr5:176518049:C:A 2289_547_183_R->S 0.000399361 75 chr5:176518050:G:A 2289_548_183_R->H 0.000199681 75 chr5:176518070:G:A 2289_568_190_A->T 0.000199681 75 chr5:176518783:G:A 2289_701_234_R->H 0.000399361 75 chr5:176519390:G:A 2289_796_266_D->N 0.000199681 75 chr5:176519393:G:A 2289_799_267_V->M 0.000199681 75 chr5:176519648:C:T 2289_920_307_T->I 0.000599042 75 chr5:176519710:G:A 2289_982_328_A->T 0.000199681 75 chr5:176519722:A:G 2289_994_332_T->A 0.000199681 75 chr5:176520431:G:A 2289_1156_386_G->S 0.000199681 75 chr5:176520432:G:A 2289_1157_386_G->D 0.000399361 75 chr5:176520442:C:A 2289_1167_389_S->R 0.000798722 75 chr5:176520443:T:C 2289_1168_390_S->P 0.000199681 75 chr5:176520464:C:T 2289_1189_397_R->C 0.000399361 75 chr5:176520465:G:A 2289_1190_397_R->H 0.000399361 75 chr5:176520494:G:A 2289_1219_407_A->T 0.000199681 75 chr5:176520503:G:A 2289_1228_410_V->M 0.000199681 75 chr5:176520539:T:A 2289_1264_422_F->I 0.000399361 75 chr5:176520548:G:A 2289_1273_425_D->N 0.000599042 75 chr5:176520701:G:A 2289_1324_442_V->I 0.000199681 75 chr5:176520704:C:T 2289_1327_443_R->C 0.000199681 75 chr5:176520714:C:T 2289_1337_446_A->V 0.000199681 75 chr5:176520734:C:G 2289_1357_453_R->G 0.000199681 75 chr5:176520761:G:A 2289_1384_462_V->I 0.000199681 75 chr5:176522357:G:A 2289_1426_476_D->N 0.000199681 75 chr5:176522397:G:A 2289_1466_489_R->Q 0.000199681 75 chr5:176522558:G:A 2289_1535_512_C->Y 0.000199681 75 chr5:176522560:G:A 2289_1537_513_A->T 0.000199681 75 chr5:176522566:A:G 2289_1543_515_K->E 0.000199681 75 chr5:176522606:C:A 2289_1583_528_P->Q 0.000399361 75 chr5:176522621:G:T 2289_1598_533_S->I 0.000199681 75 chr5:176522651:C:T 2289_1628_543_P->L 0.000199681 75 chr5:176522675:C:T 2289_1652_551_S->F 0.00139776 75 chr5:176522696:G:A 2289_1673_558_R->Q 0.000199681 75 chr5:176523083:G:T 2289_1727_576_R->L 0.000199681 75 chr5:176523109:G:C 2289_1753_585_V->L 0.000199681 75 chr5:176523736:C:A 2289_2027_676_P->Q 0.000599042 75 chr5:176524297:G:A 2289_2038_680_G->R 0.000199681 75 chr5:176524307:G:A 2289_2048_683_R->H 0.000199681 75 chr5:176524534:G:A 2289_2146_716_D->N 0.000199681 75 chr5:176524540:C:T 2289_2152_718_R->C 0.00159744 75 chr5:176524573:G:A 2289_2185_729_G->R 0.000399361 75 chr5:176524602:C:G 2289_2214_738_S->R 0.000199681 75 chr5:176524607:C:A 2289_2219_740_S->Y 0.000199681 75 chr5:176524654:T:C 2289_2266_756_F->L 0.000199681 75 chr5:176524657:G:C 2289_2269_757_G->R 0.000199681 75 chr5:176524672:A:G 2289_2284_762_T->A 0.000199681 75 na12878 Variants: 75 chr5:176517797:C:T 2289_407_136_P->L 75 snyder Variants: 75 chr5:176517797:C:T 2289_407_136_P->L 76 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168685_ENST00000303115 gene_Name: IL7RA_HUMAN 76 list of pdbs: 76 3UP1 pdb_description: 08-Feb-12 X-ray 2.150 Crystal structure of the unliganded human interleukin-7 rece extracellular domain 76 3DI3 pdb_description: 27-Jan-09 X-ray 2.900 Crystal structure of the complex of human interleukin-7 with glycosylated human interleukin-7 receptor alpha ectodomain 76 3DI2 pdb_description: 27-Jan-09 X-ray 2.700 Crystal structure of the complex of human interleukin-7 with unglycosylated human interleukin-7 receptor alpha ectodomain 76 Zimmer Variants: 76 chr5:35861068:T:C 1380_197_66_I->T 76 chr5:35876274:A:G 1380_1066_356_I->V;HUB=PPI;GNEG=Yes;GENE=IL7R;CANG=[cancer];CDSS=4;DBRECUR=IL7R 76 chr5:35871190:G:A 1380_412_138_V->I 76 HGMD Variants: 76 chr5:35871160:A:T 1380_382_128_K->* 76 chr5:35873660:C:T 1380_616_206_R->* 76 chr5:35873695:G:A 1380_651_217_W->* 76 chr5:35857144:G:T 1380_65_22_S->I 76 chr5:35857161:G:A 1380_82_28_G->R 76 chr5:35861003:C:A 1380_132_44_S->R 76 chr5:35861035:T:A 1380_164_55_L->Q 76 chr5:35861068:T:C 1380_197_66_I->T 76 chr5:35861092:G:A 1380_221_74_C->Y 76 chr5:35867539:G:A 1380_353_118_C->Y 76 chr5:35871172:C:T 1380_394_132_P->S 76 chr5:35871173:C:A 1380_395_132_P->H 76 chr5:35871190:G:A 1380_412_138_V->I 76 chr5:35873697:G:A 1380_653_218_S->N 76 chr5:35873704:G:C 1380_660_220_W->C 76 chr5:35874575:C:T 1380_731_244_T->I 76 chr5:35876274:A:G 1380_1066_356_I->V 76 oneKG Variants: 76 chr5:35857111:T:C 1380_32_11_V->A 0.000199681 76 chr5:35861020:G:T 1380_149_50_G->V 0.000199681 76 chr5:35861023:C:T 1380_152_51_S->L 0.000199681 76 chr5:35861068:T:C 1380_197_66_I->T 0.40016 76 chr5:35861083:T:A 1380_212_71_F->Y 0.000199681 76 chr5:35861085:G:C 1380_214_72_E->Q 0.000199681 76 chr5:35867418:G:A 1380_232_78_V->M 0.000399361 76 chr5:35867423:G:T 1380_237_79_E->D 0.000199681 76 chr5:35867469:G:A 1380_283_95_E->K 0.00119808 76 chr5:35867500:G:A 1380_314_105_S->N 0.000599042 76 chr5:35867518:T:C 1380_332_111_V->A 0.000399361 76 chr5:35867525:A:C 1380_339_113_E->D 0.00199681 76 chr5:35867530:G:C 1380_344_115_S->T 0.000199681 76 chr5:35867545:A:T 1380_359_120_K->I 0.000199681 76 chr5:35867559:A:G 1380_373_125_T->A 0.000399361 76 chr5:35871182:T:G 1380_404_135_L->R 0.000199681 76 chr5:35871190:G:A 1380_412_138_V->I 0.333067 76 chr5:35871197:G:A 1380_419_140_R->Q 0.000199681 76 chr5:35871220:G:C 1380_442_148_V->L 0.000599042 76 chr5:35871224:C:T 1380_446_149_T->I 0.000199681 76 chr5:35871287:G:A 1380_509_170_R->H 0.000199681 76 chr5:35871290:A:C 1380_512_171_Q->P 0.000199681 76 chr5:35873583:A:C 1380_539_180_H->P 0.000199681 76 chr5:35873679:A:G 1380_635_212_Y->C 0.000199681 76 chr5:35874553:G:A 1380_709_237_E->K 0.000199681 76 chr5:35874575:C:T 1380_731_244_T->I 0.172524 76 chr5:35874604:G:A 1380_760_254_A->T 0.000199681 76 chr5:35874619:T:G 1380_775_259_L->V 0.000199681 76 chr5:35874622:G:A 1380_778_260_A->T 0.000798722 76 chr5:35875645:G:A 1380_832_278_D->N,1 0.000199681 76 chr5:35876167:T:G 1380_959_320_V->G 0.000199681 76 chr5:35876188:C:T 1380_980_327_T->M 0.000199681 76 chr5:35876251:A:C 1380_1043_348_N->T 0.00638978 76 chr5:35876256:C:T 1380_1048_350_P->S 0.000399361 76 chr5:35876274:A:G 1380_1066_356_I->V 0.220847 76 chr5:35876290:T:C 1380_1082_361_F->S 0.000199681 76 chr5:35876298:G:A 1380_1090_364_D->N 0.000199681 76 chr5:35876300:T:G 1380_1092_364_D->E 0.00419329 76 chr5:35876323:G:A 1380_1115_372_G->E 0.000199681 76 chr5:35876342:C:G 1380_1134_378_D->E 0.000399361 76 chr5:35876439:A:G 1380_1231_411_T->A 0.00419329 76 chr5:35876449:C:T 1380_1241_414_T->M 0.013778 76 chr5:35876524:C:G 1380_1316_439_T->S 0.000199681 76 chr5:35876565:T:C 1380_1357_453_S->P 0.000199681 76 na12878 Variants: 76 chr5:35861068:T:C 1380_197_66_I->T 76 chr5:35876274:A:G 1380_1066_356_I->V 76 chr5:35871190:G:A 1380_412_138_V->I 76 chr5:35874575:C:T 1380_731_244_T->I 76 snyder Variants: 76 chr5:35861068:T:C 1380_197_66_I->T 76 chr5:35876274:A:G 1380_1066_356_I->V 76 chr5:35871190:G:A 1380_412_138_V->I 77 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112964_ENST00000230882 gene_Name: GHR_HUMAN 77 list of pdbs: 77 3HHR pdb_description: 30-Apr-94 X-ray 2.800 Human growth hormone and extracellular domain of its receptor: crystal structure of the complex 77 2AEW pdb_description: 01-Nov-05 X-ray 2.700 A model for growth hormone receptor activation based on subunit rotation within a receptor dimer 77 1KF9 pdb_description: 20-Nov-02 X-ray 2.600 Phage display derived variant of human growth hormone complexed with two copies of the extracellular domain of its receptor 77 1HWH pdb_description: 19-Nov-97 X-ray 2.900 1:1 complex of human growth hormone mutant g120r with its soluble binding protein 77 1HWG pdb_description: 19-Nov-97 X-ray 2.500 1:2 complex of human growth hormone with its soluble binding protein 77 1AXI pdb_description: 28-Jan-98 X-ray 2.100 Structural plasticity at the hgh:hghbp interface 77 1A22 pdb_description: 29-Apr-98 X-ray 2.600 Human growth hormone bound to single receptor 77 Zimmer Variants: 77 chr5:42719239:A:C 1917_1630_544_I->L 77 HGMD Variants: 77 chr5:42565987:G:A 1917_11_4_W->* 77 chr5:42629171:G:A 1917_102_34_W->* 77 chr5:42689023:C:A 1917_168_56_C->* 77 chr5:42689036:C:T 1917_181_61_R->* 77 chr5:42689102:C:T 1917_247_83_Q->* 77 chr5:42695045:G:A 1917_293_98_W->* 77 chr5:42695055:C:A 1917_303_101_C->* 77 chr5:42695172:T:A 1917_420_140_C->* 77 chr5:42699962:T:A 1917_476_159_L->* 77 chr5:42699962:T:G 1917_476_159_L->* 77 chr5:42700011:G:A 1917_525_175_W->* 77 chr5:42700078:G:T 1917_592_198_E->* 77 chr5:42700087:G:T 1917_601_201_E->* 77 chr5:42711393:C:T 1917_703_235_R->* 77 chr5:42711414:G:T 1917_724_242_E->* 77 chr5:42565977:A:T 1917_1_1_M->L 77 chr5:42689021:T:A 1917_166_56_C->S 77 chr5:42689028:C:T 1917_173_58_S->L 77 chr5:42689033:G:A 1917_178_60_E->K 77 chr5:42689039:G:A 1917_184_62_E->K 77 chr5:42689048:T:C 1917_193_65_S->P 77 chr5:42689057:T:C 1917_202_68_W->R 77 chr5:42689076:A:G 1917_221_74_H->R 77 chr5:42689094:G:T 1917_239_80_G->V 77 chr5:42689121:G:A 1917_266_89_R->K 77 chr5:42695062:T:G 1917_310_104_Y->D 77 chr5:42695087:G:C 1917_335_112_C->S 77 chr5:42695093:T:C 1917_341_114_F->S 77 chr5:42695116:T:C 1917_364_122_W->R 77 chr5:42695180:T:C 1917_428_143_V->A 77 chr5:42699932:C:A 1917_446_149_P->Q 77 chr5:42699970:G:A 1917_484_162_V->I 77 chr5:42699971:T:C 1917_485_162_V->A 77 chr5:42699971:T:A 1917_485_162_V->D 77 chr5:42699983:G:A 1917_497_166_G->E 77 chr5:42699990:T:G 1917_504_168_H->Q 77 chr5:42699994:G:C 1917_508_170_D->H 77 chr5:42699995:A:G 1917_509_170_D->G 77 chr5:42699998:T:C 1917_512_171_I->T 77 chr5:42700001:A:C 1917_515_172_Q->P 77 chr5:42700004:T:G 1917_518_173_V->G 77 chr5:42700021:C:T 1917_535_179_R->C 77 chr5:42700073:A:C 1917_587_196_Y->S 77 chr5:42711367:A:G 1917_677_226_Y->C 77 chr5:42711375:C:G 1917_685_229_R->G 77 chr5:42711376:G:A 1917_686_229_R->H 77 chr5:42711408:T:C 1917_718_240_Y->H 77 chr5:42711416:G:C 1917_726_242_E->D 77 chr5:42711421:G:T 1917_731_244_S->I 77 chr5:42711474:G:A 1917_784_262_D->N 77 chr5:42711474:G:C 1917_784_262_D->H 77 chr5:42713621:G:C 1917_875_292_R->T 77 chr5:42718928:G:T 1917_1319_440_C->F 77 chr5:42719092:C:A 1917_1483_495_P->T 77 chr5:42719095:G:A 1917_1486_496_A->T 77 chr5:42719239:A:C 1917_1630_544_I->L 77 chr5:42719344:C:A 1917_1735_579_P->T 77 oneKG Variants: 77 chr5:42566001:A:G 1917_25_9_T->A 0.000199681 77 chr5:42566022:A:G 1917_46_16_S->G 0.000599042 77 chr5:42629188:A:T 1917_119_40_N->I 0.000199681 77 chr5:42689024:C:T 1917_169_57_R->C 0.000199681 77 chr5:42689061:C:T 1917_206_69_T->I 0.000798722 77 chr5:42689094:G:T 1917_239_80_G->V 0.000798722 77 chr5:42689100:T:C 1917_245_82_I->T 0.000199681 77 chr5:42695110:T:A 1917_358_120_S->T 0.000199681 77 chr5:42695116:T:G 1917_364_122_W->G 0.000199681 77 chr5:42695153:G:A 1917_401_134_G->D 0.000199681 77 chr5:42695158:G:T 1917_406_136_V->L 0.000599042 77 chr5:42695163:T:A 1917_411_137_D->E 0.000199681 77 chr5:42695182:G:T 1917_430_144_D->Y 0.000199681 77 chr5:42699932:C:A 1917_446_149_P->Q 0.000199681 77 chr5:42699970:G:A,T 1917_484_162_V->I 0.00658946 77 chr5:42699970:G:A,T 1917_484_162_V->F 0.00658946 77 chr5:42699985:A:G 1917_499_167_I->V 0.000199681 77 chr5:42700021:C:T 1917_535_179_R->C 0.00139776 77 chr5:42700022:G:A 1917_536_179_R->H 0.000399361 77 chr5:42700025:A:G 1917_539_180_N->S 0.000199681 77 chr5:42700081:G:A 1917_595_199_V->I 0.000199681 77 chr5:42711309:A:G 1917_619_207_M->V 0.000199681 77 chr5:42711350:G:T 1917_660_220_L->F 0.000199681 77 chr5:42711376:G:A 1917_686_229_R->H 0.000798722 77 chr5:42711408:T:C 1917_718_240_Y->H 0.000399361 77 chr5:42711433:A:G 1917_743_248_Y->C 0.000199681 77 chr5:42713560:A:G 1917_814_272_I->V 0.000199681 77 chr5:42713591:T:C 1917_845_282_L->P 0.000199681 77 chr5:42718201:G:A 1917_923_308_G->E 0.000199681 77 chr5:42718203:A:C 1917_925_309_I->L 0.000199681 77 chr5:42718577:A:G 1917_968_323_N->S 0.00179712 77 chr5:42718592:T:C 1917_983_328_I->T 0.000399361 77 chr5:42718604:A:G 1917_995_332_Y->C 0.000998403 77 chr5:42718697:A:G 1917_1088_363_D->G 0.000199681 77 chr5:42718706:T:G 1917_1097_366_L->R 0.000199681 77 chr5:42718718:A:G 1917_1109_370_H->R 0.000199681 77 chr5:42718729:C:A 1917_1120_374_H->N 0.000199681 77 chr5:42718739:T:C 1917_1130_377_L->P 0.000199681 77 chr5:42718766:G:A 1917_1157_386_R->H 0.000399361 77 chr5:42718813:A:C 1917_1204_402_N->H 0.000199681 77 chr5:42718817:A:G 1917_1208_403_D->G 0.000199681 77 chr5:42718847:A:G 1917_1238_413_Q->R 0.000199681 77 chr5:42718928:G:T 1917_1319_440_C->F 0.0752796 77 chr5:42718944:G:C 1917_1335_445_Q->H 0.000199681 77 chr5:42719072:C:T 1917_1463_488_A->V 0.000399361 77 chr5:42719083:G:C 1917_1474_492_D->H 0.000199681 77 chr5:42719092:C:A 1917_1483_495_P->T 0.0081869 77 chr5:42719151:T:G 1917_1542_514_C->W 0.000998403 77 chr5:42719158:C:T 1917_1549_517_H->Y 0.000199681 77 chr5:42719210:A:G 1917_1601_534_Y->C 0.000199681 77 chr5:42719239:A:C 1917_1630_544_I->L 0.444489 77 chr5:42719246:T:A 1917_1637_546_V->E 0.000199681 77 chr5:42719312:C:T 1917_1703_568_T->I 0.000199681 77 chr5:42719344:C:A 1917_1735_579_P->T 0.0752796 77 chr5:42719408:T:C 1917_1799_600_I->T 0.000399361 77 chr5:42719474:T:C 1917_1865_622_L->P 0.000199681 77 na12878 Variants: 77 chr5:42719239:A:C 1917_1630_544_I->L 77 snyder Variants: 77 chr5:42719239:A:C 1917_1630_544_I->L 78 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112964_ENST00000357703 gene_Name: GHR_HUMAN 78 list of pdbs: 78 3HHR pdb_description: 30-Apr-94 X-ray 2.800 Human growth hormone and extracellular domain of its receptor: crystal structure of the complex 78 2AEW pdb_description: 01-Nov-05 X-ray 2.700 A model for growth hormone receptor activation based on subunit rotation within a receptor dimer 78 1KF9 pdb_description: 20-Nov-02 X-ray 2.600 Phage display derived variant of human growth hormone complexed with two copies of the extracellular domain of its receptor 78 1HWH pdb_description: 19-Nov-97 X-ray 2.900 1:1 complex of human growth hormone mutant g120r with its soluble binding protein 78 1HWG pdb_description: 19-Nov-97 X-ray 2.500 1:2 complex of human growth hormone with its soluble binding protein 78 1AXI pdb_description: 28-Jan-98 X-ray 2.100 Structural plasticity at the hgh:hghbp interface 78 1A22 pdb_description: 29-Apr-98 X-ray 2.600 Human growth hormone bound to single receptor 78 Zimmer Variants: 78 chr5:42719239:A:C 1851_1564_522_I->L 78 HGMD Variants: 78 chr5:42565987:G:A 1851_11_4_W->* 78 chr5:42689023:C:A 1851_102_34_C->* 78 chr5:42689036:C:T 1851_115_39_R->* 78 chr5:42689102:C:T 1851_181_61_Q->* 78 chr5:42695045:G:A 1851_227_76_W->* 78 chr5:42695055:C:A 1851_237_79_C->* 78 chr5:42695172:T:A 1851_354_118_C->* 78 chr5:42699962:T:A 1851_410_137_L->* 78 chr5:42699962:T:G 1851_410_137_L->* 78 chr5:42700011:G:A 1851_459_153_W->* 78 chr5:42700078:G:T 1851_526_176_E->* 78 chr5:42700087:G:T 1851_535_179_E->* 78 chr5:42711393:C:T 1851_637_213_R->* 78 chr5:42711414:G:T 1851_658_220_E->* 78 chr5:42565977:A:T 1851_1_1_M->L 78 chr5:42689021:T:A 1851_100_34_C->S 78 chr5:42689028:C:T 1851_107_36_S->L 78 chr5:42689033:G:A 1851_112_38_E->K 78 chr5:42689039:G:A 1851_118_40_E->K 78 chr5:42689048:T:C 1851_127_43_S->P 78 chr5:42689057:T:C 1851_136_46_W->R 78 chr5:42689076:A:G 1851_155_52_H->R 78 chr5:42689094:G:T 1851_173_58_G->V 78 chr5:42689121:G:A 1851_200_67_R->K 78 chr5:42695062:T:G 1851_244_82_Y->D 78 chr5:42695087:G:C 1851_269_90_C->S 78 chr5:42695093:T:C 1851_275_92_F->S,1 78 chr5:42695116:T:C 1851_298_100_W->R,1 78 chr5:42695180:T:C 1851_362_121_V->A 78 chr5:42699932:C:A 1851_380_127_P->Q 78 chr5:42699970:G:A 1851_418_140_V->I 78 chr5:42699971:T:C 1851_419_140_V->A 78 chr5:42699971:T:A 1851_419_140_V->D 78 chr5:42699983:G:A 1851_431_144_G->E 78 chr5:42699990:T:G 1851_438_146_H->Q 78 chr5:42699994:G:C 1851_442_148_D->H 78 chr5:42699995:A:G 1851_443_148_D->G 78 chr5:42699998:T:C 1851_446_149_I->T 78 chr5:42700001:A:C 1851_449_150_Q->P 78 chr5:42700004:T:G 1851_452_151_V->G 78 chr5:42700021:C:T 1851_469_157_R->C 78 chr5:42700073:A:C 1851_521_174_Y->S 78 chr5:42711367:A:G 1851_611_204_Y->C 78 chr5:42711375:C:G 1851_619_207_R->G 78 chr5:42711376:G:A 1851_620_207_R->H 78 chr5:42711408:T:C 1851_652_218_Y->H 78 chr5:42711416:G:C 1851_660_220_E->D 78 chr5:42711421:G:T 1851_665_222_S->I 78 chr5:42711474:G:A 1851_718_240_D->N 78 chr5:42711474:G:C 1851_718_240_D->H 78 chr5:42713621:G:C 1851_809_270_R->T 78 chr5:42718928:G:T 1851_1253_418_C->F 78 chr5:42719092:C:A 1851_1417_473_P->T 78 chr5:42719095:G:A 1851_1420_474_A->T 78 chr5:42719239:A:C 1851_1564_522_I->L 78 chr5:42719344:C:A 1851_1669_557_P->T 78 oneKG Variants: 78 chr5:42566001:A:G 1851_25_9_T->A 0.000199681 78 chr5:42566022:A:G 1851_46_16_S->G 0.000599042 78 chr5:42689024:C:T 1851_103_35_R->C 0.000199681 78 chr5:42689061:C:T 1851_140_47_T->I 0.000798722 78 chr5:42689094:G:T 1851_173_58_G->V 0.000798722 78 chr5:42689100:T:C 1851_179_60_I->T 0.000199681 78 chr5:42695110:T:A 1851_292_98_S->T,1 0.000199681 78 chr5:42695116:T:G 1851_298_100_W->G,1 0.000199681 78 chr5:42695153:G:A 1851_335_112_G->D 0.000199681 78 chr5:42695158:G:T 1851_340_114_V->L 0.000599042 78 chr5:42695163:T:A 1851_345_115_D->E 0.000199681 78 chr5:42695182:G:T 1851_364_122_D->Y 0.000199681 78 chr5:42699932:C:A 1851_380_127_P->Q 0.000199681 78 chr5:42699970:G:A,T 1851_418_140_V->I,2 0.00658946 78 chr5:42699970:G:A,T 1851_418_140_V->F 0.00658946 78 chr5:42699985:A:G 1851_433_145_I->V 0.000199681 78 chr5:42700021:C:T 1851_469_157_R->C 0.00139776 78 chr5:42700022:G:A 1851_470_157_R->H 0.000399361 78 chr5:42700025:A:G 1851_473_158_N->S 0.000199681 78 chr5:42700081:G:A 1851_529_177_V->I 0.000199681 78 chr5:42711309:A:G 1851_553_185_M->V 0.000199681 78 chr5:42711350:G:T 1851_594_198_L->F 0.000199681 78 chr5:42711376:G:A 1851_620_207_R->H 0.000798722 78 chr5:42711408:T:C 1851_652_218_Y->H 0.000399361 78 chr5:42711433:A:G 1851_677_226_Y->C 0.000199681 78 chr5:42713560:A:G 1851_748_250_I->V 0.000199681 78 chr5:42713591:T:C 1851_779_260_L->P 0.000199681 78 chr5:42718201:G:A 1851_857_286_G->E 0.000199681 78 chr5:42718203:A:C 1851_859_287_I->L 0.000199681 78 chr5:42718577:A:G 1851_902_301_N->S 0.00179712 78 chr5:42718592:T:C 1851_917_306_I->T 0.000399361 78 chr5:42718604:A:G 1851_929_310_Y->C 0.000998403 78 chr5:42718697:A:G 1851_1022_341_D->G 0.000199681 78 chr5:42718706:T:G 1851_1031_344_L->R 0.000199681 78 chr5:42718718:A:G 1851_1043_348_H->R 0.000199681 78 chr5:42718729:C:A 1851_1054_352_H->N 0.000199681 78 chr5:42718739:T:C 1851_1064_355_L->P 0.000199681 78 chr5:42718766:G:A 1851_1091_364_R->H 0.000399361 78 chr5:42718813:A:C 1851_1138_380_N->H 0.000199681 78 chr5:42718817:A:G 1851_1142_381_D->G 0.000199681 78 chr5:42718847:A:G 1851_1172_391_Q->R 0.000199681 78 chr5:42718928:G:T 1851_1253_418_C->F 0.0752796 78 chr5:42718944:G:C 1851_1269_423_Q->H 0.000199681 78 chr5:42719072:C:T 1851_1397_466_A->V 0.000399361 78 chr5:42719083:G:C 1851_1408_470_D->H 0.000199681 78 chr5:42719092:C:A 1851_1417_473_P->T 0.0081869 78 chr5:42719151:T:G 1851_1476_492_C->W 0.000998403 78 chr5:42719158:C:T 1851_1483_495_H->Y 0.000199681 78 chr5:42719210:A:G 1851_1535_512_Y->C 0.000199681 78 chr5:42719239:A:C 1851_1564_522_I->L 0.444489 78 chr5:42719246:T:A 1851_1571_524_V->E 0.000199681 78 chr5:42719312:C:T 1851_1637_546_T->I 0.000199681 78 chr5:42719344:C:A 1851_1669_557_P->T 0.0752796 78 chr5:42719408:T:C 1851_1733_578_I->T 0.000399361 78 chr5:42719474:T:C 1851_1799_600_L->P 0.000199681 78 na12878 Variants: 78 chr5:42719239:A:C 1851_1564_522_I->L 78 snyder Variants: 78 chr5:42719239:A:C 1851_1564_522_I->L 79 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000113318_ENST00000265081 gene_Name: MSH3_HUMAN 79 list of pdbs: 79 3THZ pdb_description: 21-Dec-11 X-ray 4.300 Human mutsbeta complexed with an idl of 6 bases (loop6) and 79 3THY pdb_description: 21-Dec-11 X-ray 2.890 Human mutsbeta complexed with an idl of 2 bases (loop2) and 79 3THX pdb_description: 21-Dec-11 X-ray 2.700 Human mutsbeta complexed with an idl of 3 bases (loop3) and 79 3THW pdb_description: 21-Dec-11 X-ray 3.090 Human mutsbeta complexed with an idl of 4 bases (loop4) and 79 Zimmer Variants: 79 chr5:80109479:T:G 3414_2732_911_L->W;HUB=PPI®GNEG=Yes;GENE=MSH3;CANG=[DNA_repair];CDSS=4 79 chr5:79950781:A:G 3414_235_79_I->V;HUB=PPI®GNEG=Yes;GENE=MSH3;CANG=[DNA_repair];CDSS=3 79 chr5:80168937:G:A 3414_3133_1045_A->T;HUB=PPI®GNEG=Yes;GENE=MSH3;CANG=[DNA_repair];CDSS=3 79 HGMD Variants: 79 chr5:79950781:A:G 3414_235_79_I->V 79 chr5:80063896:C:T 3414_2041_681_P->S 79 chr5:80109479:T:G 3414_2732_911_L->W 79 chr5:80109532:A:T 3414_2785_929_I->F 79 chr5:80149981:A:G 3414_2846_949_Q->R 79 chr5:80168937:G:A 3414_3133_1045_A->T 79 oneKG Variants: 79 chr5:80021291:C:T 3414_1360_454_R->* 0.000199681 79 chr5:79950548:T:C 3414_2_1_M->T 0.000199681 79 chr5:79950692:C:G 3414_146_49_P->R 0.00139776 79 chr5:79950706:G:C 3414_160_54_A->P 0.000998403 79 chr5:79950719:C:T 3414_173_58_A->V 0.00539137 79 chr5:79950724:G:C 3414_178_60_A->P 0.0207668 79 chr5:79950727:G:C 3414_181_61_A->P 0.0417332 79 chr5:79950731:C:A 3414_185_62_A->E 0.000199681 79 chr5:79950745:C:G 3414_199_67_P->A 0.217851 79 chr5:79950751:C:T 3414_205_69_P->S 0.000599042 79 chr5:79950781:A:G 3414_235_79_I->V 0.23143 79 chr5:79952348:C:T 3414_356_119_S->F 0.00119808 79 chr5:79961137:G:T 3414_534_178_K->N 0.000199681 79 chr5:79961165:C:T 3414_562_188_R->C 0.000199681 79 chr5:79961166:G:A 3414_563_188_R->H 0.000998403 79 chr5:79965947:G:T 3414_611_204_G->V 0.000199681 79 chr5:79965949:T:A 3414_613_205_S->T 0.000199681 79 chr5:79966012:A:G 3414_676_226_K->E 0.0 79 chr5:79966069:G:A 3414_733_245_D->N 0.000199681 79 chr5:79966115:G:C 3414_779_260_G->A 0.000199681 79 chr5:79968087:T:C 3414_817_273_Y->H 0.000199681 79 chr5:79968143:T:A 3414_873_291_F->L 0.000199681 79 chr5:79968156:C:T 3414_886_296_R->C 0.000199681 79 chr5:79968674:G:A 3414_1024_342_E->K 0.000199681 79 chr5:79970820:A:G 3414_1046_349_K->R 0.000199681 79 chr5:79970862:C:T 3414_1088_363_T->I 0.000199681 79 chr5:79970934:T:A 3414_1160_387_F->Y 0.00139776 79 chr5:79974767:G:A 3414_1195_399_E->K 0.000199681 79 chr5:79974803:C:T 3414_1231_411_R->C 0.000199681 79 chr5:79974821:C:T 3414_1249_417_R->W 0.000199681 79 chr5:79974828:C:T 3414_1256_419_S->L 0.000199681 79 chr5:79974830:A:G 3414_1258_420_S->G 0.000998403 79 chr5:79974885:C:T 3414_1313_438_A->V 0.000998403 79 chr5:80021292:G:A 3414_1361_454_R->Q 0.00139776 79 chr5:80021307:A:T 3414_1376_459_D->V 0.000199681 79 chr5:80021309:A:G 3414_1378_460_N->D 0.000199681 79 chr5:80021312:A:G 3414_1381_461_I->V 0.000199681 79 chr5:80024685:C:A 3414_1469_490_S->Y 0.00239617 79 chr5:80024738:A:G 3414_1522_508_K->E 0.00239617 79 chr5:80024783:G:A 3414_1567_523_E->K 0.00658946 79 chr5:80037285:A:C 3414_1571_524_N->T 0.00119808 79 chr5:80063856:G:T 3414_2001_667_L->F 0.000199681 79 chr5:80063860:C:T 3414_2005_669_R->W 0.000798722 79 chr5:80063896:C:T 3414_2041_681_P->S 0.000199681 79 chr5:80064656:T:C 3414_2087_696_V->A 0.000199681 79 chr5:80064684:C:A 3414_2115_705_D->E 0.000199681 79 chr5:80064749:G:A 3414_2180_727_R->Q 0.000199681 79 chr5:80064822:G:C 3414_2253_751_E->D 0.000199681 79 chr5:80071549:A:T 3414_2290_764_I->L 0.000199681 79 chr5:80074556:G:A 3414_2336_779_R->H 0.000199681 79 chr5:80074607:G:A 3414_2387_796_R->Q 0.000199681 79 chr5:80074616:T:G 3414_2396_799_L->R 0.000798722 79 chr5:80074624:G:C 3414_2404_802_D->H 0.000199681 79 chr5:80083386:A:G 3414_2438_813_K->R 0.000199681 79 chr5:80083428:A:G 3414_2480_827_H->R 0.00119808 79 chr5:80088608:T:C 3414_2600_867_I->T 0.000399361 79 chr5:80088631:G:A 3414_2623_875_D->N 0.000199681 79 chr5:80109479:T:G 3414_2732_911_L->W 0.000998403 79 chr5:80109487:A:G 3414_2740_914_I->V 0.00319489 79 chr5:80109509:A:G 3414_2762_921_Y->C 0.000399361 79 chr5:80109544:G:A 3414_2797_933_D->N 0.000199681 79 chr5:80149981:A:G 3414_2846_949_Q->R 0.097843 79 chr5:80149992:A:T 3414_2857_953_M->L 0.000199681 79 chr5:80150127:A:G 3414_2992_998_I->V 0.000199681 79 chr5:80150135:T:G 3414_3000_1000_D->E 0.000399361 79 chr5:80160703:G:C 3414_3072_1024_Q->H 0.000399361 79 chr5:80168937:G:A 3414_3133_1045_A->T 0.279752 79 chr5:80168970:C:T 3414_3166_1056_L->F 0.000199681 79 chr5:80169088:G:A 3414_3284_1095_G->E 0.000399361 79 chr5:80169094:T:C 3414_3290_1097_I->T 0.000199681 79 chr5:80169100:C:T 3414_3296_1099_T->M 0.000199681 79 chr5:80171602:C:T 3414_3335_1112_T->M 0.000199681 79 chr5:80171613:G:T 3414_3346_1116_A->S 0.000199681 79 na12878 Variants: 79 chr5:79950781:A:G 3414_235_79_I->V 79 chr5:80168937:G:A 3414_3133_1045_A->T 79 snyder Variants: 79 chr5:79950781:A:G 3414_235_79_I->V 79 chr5:80168937:G:A 3414_3133_1045_A->T 80 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000016402_ENST00000316649 gene_Name: I20RA_HUMAN 80 list of pdbs: 80 4DOH pdb_description: 18-Jul-12 X-ray 2.800 Il20/il201/il20r2 ternary complex 80 Zimmer Variants: 80 chr6:137329781:G:A 1662_679_227_R->C 80 chr6:137322833:C:A 1662_1524_508_E->D 80 chr6:137325847:C:T 1662_775_259_V->I 80 HGMD Variants: 80 chr6:137323213:G:A 1662_1144_382_L->F 80 oneKG Variants: 80 chr6:137322720:C:G 1662_1637_546_G->A 0.000199681 80 chr6:137322820:C:T 1662_1537_513_G->R 0.000199681 80 chr6:137322833:C:G 1662_1524_508_E->D 0.000199681 80 chr6:137323005:G:A 1662_1352_451_T->I 0.000199681 80 chr6:137323071:C:T 1662_1286_429_G->E 0.000399361 80 chr6:137323081:A:G 1662_1276_426_S->P 0.000599042 80 chr6:137323095:A:G 1662_1262_421_L->S 0.000199681 80 chr6:137323213:G:A 1662_1144_382_L->F 0.199681 80 chr6:137323287:A:G 1662_1070_357_V->A 0.0 80 chr6:137323353:T:G 1662_1004_335_D->A 0.000798722 80 chr6:137323386:T:C 1662_971_324_H->R 0.000798722 80 chr6:137323419:G:T 1662_938_313_T->N 0.000599042 80 chr6:137325825:A:C 1662_797_266_F->C 0.000399361 80 chr6:137325847:C:T 1662_775_259_V->I 0.153355 80 chr6:137329780:C:T 1662_680_227_R->H 0.000199681 80 chr6:137329825:G:A 1662_635_212_T->I 0.000199681 80 chr6:137329880:A:G 1662_580_194_W->R 0.000199681 80 chr6:137330455:G:A 1662_578_193_T->M 0.000798722 80 chr6:137330486:C:T 1662_547_183_V->M 0.000399361 80 chr6:137330503:G:T 1662_530_177_S->Y 0.00179712 80 chr6:137330530:A:C 1662_503_168_L->R 0.000399361 80 chr6:137330623:A:C 1662_410_137_I->S 0.000199681 80 chr6:137332438:T:C 1662_376_126_S->G 0.000199681 80 chr6:137332551:C:T 1662_263_88_R->K 0.00119808 80 chr6:137338159:G:A 1662_170_57_T->I 0.000199681 80 chr6:137338202:T:C 1662_127_43_I->V 0.0427316 80 chr6:137338223:C:A 1662_106_36_G->C 0.000199681 80 chr6:137338225:C:A 1662_104_35_G->V 0.00139776 80 na12878 Variants: 80 chr6:137325847:C:T 1662_775_259_V->I 80 snyder Variants: 80 chr6:137325847:C:T 1662_775_259_V->I 81 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000016402_ENST00000367748 gene_Name: I20RA_HUMAN 81 list of pdbs: 81 4DOH pdb_description: 18-Jul-12 X-ray 2.800 Il20/il201/il20r2 ternary complex 81 Zimmer Variants: 81 chr6:137329781:G:A 1329_346_116_R->C;HUB=PPI;GNEG=Yes;GENE=IL20RA;CDSS=4 81 chr6:137322833:C:A 1329_1191_397_E->D;HUB=PPI;GNEG=Yes;GENE=IL20RA;CDSS=3 81 chr6:137325847:C:T 1329_442_148_V->I;HUB=PPI;GNEG=Yes;GENE=IL20RA;CDSS=3 81 HGMD Variants: 81 chr6:137323213:G:A 1329_811_271_L->F 81 oneKG Variants: 81 chr6:137322720:C:G 1329_1304_435_G->A 0.000199681 81 chr6:137322820:C:T 1329_1204_402_G->R 0.000199681 81 chr6:137322833:C:G 1329_1191_397_E->D 0.000199681 81 chr6:137323005:G:A 1329_1019_340_T->I 0.000199681 81 chr6:137323071:C:T 1329_953_318_G->E 0.000399361 81 chr6:137323081:A:G 1329_943_315_S->P 0.000599042 81 chr6:137323095:A:G 1329_929_310_L->S 0.000199681 81 chr6:137323213:G:A 1329_811_271_L->F 0.199681 81 chr6:137323287:A:G 1329_737_246_V->A 0.0 81 chr6:137323353:T:G 1329_671_224_D->A 0.000798722 81 chr6:137323386:T:C 1329_638_213_H->R 0.000798722 81 chr6:137323419:G:T 1329_605_202_T->N 0.000599042 81 chr6:137325825:A:C 1329_464_155_F->C 0.000399361 81 chr6:137325847:C:T 1329_442_148_V->I 0.153355 81 chr6:137329780:C:T 1329_347_116_R->H 0.000199681 81 chr6:137329825:G:A 1329_302_101_T->I 0.000199681 81 chr6:137329880:A:G 1329_247_83_W->R 0.000199681 81 chr6:137330455:G:A 1329_245_82_T->M 0.000798722 81 chr6:137330486:C:T 1329_214_72_V->M 0.000399361 81 chr6:137330503:G:T 1329_197_66_S->Y 0.00179712 81 chr6:137330530:A:C 1329_170_57_L->R 0.000399361 81 chr6:137330623:A:C 1329_77_26_I->S 0.000199681 81 chr6:137338159:G:A 1329_16_6_L->F 0.000199681 81 na12878 Variants: 81 chr6:137325847:C:T 1329_442_148_V->I 81 snyder Variants: 81 chr6:137325847:C:T 1329_442_148_V->I 82 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000152822_ENST00000361719 gene_Name: GRM1_HUMAN 82 list of pdbs: 82 3KS9 pdb_description: 08-Dec-09 X-ray 1.900 Metabotropic glutamate receptor mglur1 complexed with ly3414 antagonist 82 Zimmer Variants: 82 chr6:146755324:T:C 3585_2977_993_S->P;HUB=PPI;GNEG=Yes;GENE=GRM1;CDSS=4;DBRECUR=GRM1 82 HGMD Variants: 82 chr6:146351019:C:A 3585_366_122_F->L 82 chr6:146708066:C:T 3585_1643_548_T->M 82 chr6:146708112:A:C 3585_1689_563_K->N 82 chr6:146708146:C:G 3585_1723_575_L->V 82 chr6:146719979:C:A 3585_1804_602_L->M 82 chr6:146719987:C:G 3585_1812_604_I->M 82 chr6:146720223:C:A 3585_2048_683_A->E 82 chr6:146755256:C:T 3585_2909_970_P->L 82 chr6:146755324:T:C 3585_2977_993_S->P 82 chr6:146755387:C:T 3585_3040_1014_P->S 82 chr6:146755390:C:G 3585_3043_1015_P->A 82 oneKG Variants: 82 chr6:146350699:G:C 3585_46_16_V->L 0.000199681 82 chr6:146350745:G:A 3585_92_31_G->E 0.000199681 82 chr6:146350870:C:A 3585_217_73_Q->K 0.000199681 82 chr6:146350933:G:A 3585_280_94_V->I 0.000199681 82 chr6:146350945:A:T 3585_292_98_N->Y 0.000199681 82 chr6:146351056:G:C 3585_403_135_D->H 0.000599042 82 chr6:146480607:G:A 3585_824_275_R->H 0.000199681 82 chr6:146480610:A:C 3585_827_276_K->T 0.000399361 82 chr6:146480637:G:A 3585_854_285_R->K 0.00199681 82 chr6:146480663:A:G 3585_880_294_M->V 0.000199681 82 chr6:146480705:G:A 3585_922_308_V->I 0.00279553 82 chr6:146625869:G:A 3585_1073_358_R->K 0.000599042 82 chr6:146625874:G:T 3585_1078_360_D->Y 0.000399361 82 chr6:146625971:G:C 3585_1175_392_R->P 0.000199681 82 chr6:146673521:C:A 3585_1322_441_A->D 0.000199681 82 chr6:146708026:G:A 3585_1603_535_V->I 0.000199681 82 chr6:146719910:G:A 3585_1735_579_E->K 0.000199681 82 chr6:146719965:T:A 3585_1790_597_I->N 0.000199681 82 chr6:146719967:G:A 3585_1792_598_A->T 0.000199681 82 chr6:146720013:T:G 3585_1838_613_I->S 0.000199681 82 chr6:146720157:G:A 3585_1982_661_R->H 0.000199681 82 chr6:146720360:C:A 3585_2185_729_P->T 0.0103834 82 chr6:146720390:A:G 3585_2215_739_I->V 0.000599042 82 chr6:146720587:T:G 3585_2412_804_I->M 0.000199681 82 chr6:146720777:C:G 3585_2602_868_R->G 0.000199681 82 chr6:146720784:A:G 3585_2609_870_N->S 0.000199681 82 chr6:146720826:G:A 3585_2651_884_G->E 0.00399361 82 chr6:146755043:G:A 3585_2696_899_G->D,1 0.000199681 82 chr6:146755103:C:G 3585_2756_919_T->S 0.000199681 82 chr6:146755132:G:A 3585_2785_929_V->I 0.0091853 82 chr6:146755165:T:A 3585_2818_940_S->T 0.000399361 82 chr6:146755324:T:C 3585_2977_993_S->P 0.395966 82 chr6:146755390:C:T 3585_3043_1015_P->S 0.00119808 82 chr6:146755454:G:T 3585_3107_1036_G->V 0.00878594 82 chr6:146755463:G:C 3585_3116_1039_S->T 0.000399361 82 chr6:146755468:T:C 3585_3121_1041_F->L 0.000199681 82 chr6:146755483:C:A 3585_3136_1046_P->T 0.000199681 82 chr6:146755508:G:A 3585_3161_1054_G->D 0.00199681 82 chr6:146755528:G:C 3585_3181_1061_G->R 0.000199681 82 chr6:146755535:G:C 3585_3188_1063_R->P 0.000399361 82 chr6:146755553:C:T 3585_3206_1069_P->L 0.00499201 82 chr6:146755559:C:G 3585_3212_1071_P->R 0.000399361 82 chr6:146755561:C:G 3585_3214_1072_P->A 0.00559105 82 chr6:146755568:A:G 3585_3221_1074_H->R 0.000199681 82 chr6:146755632:C:A 3585_3285_1095_D->E 0.000199681 82 chr6:146755642:G:T 3585_3295_1099_D->Y 0.000199681 82 chr6:146755726:G:A 3585_3379_1127_E->K 0.000199681 82 chr6:146755760:C:T 3585_3413_1138_T->I 0.000599042 82 chr6:146755793:C:T 3585_3446_1149_S->L 0.000199681 82 chr6:146755847:C:A 3585_3500_1167_S->Y 0.000199681 82 chr6:146755892:T:G 3585_3545_1182_V->G 0.000199681 82 chr6:146755904:A:G 3585_3557_1186_D->G 0.000199681 82 na12878 Variants: 82 chr6:146755324:T:C 3585_2977_993_S->P 82 snyder Variants: 82 chr6:146755324:T:C 3585_2977_993_S->P 83 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000152822_ENST00000282753 gene_Name: GRM1_HUMAN 83 list of pdbs: 83 3KS9 pdb_description: 08-Dec-09 X-ray 1.900 Metabotropic glutamate receptor mglur1 complexed with ly3414 antagonist 83 Zimmer Variants: 83 chr6:146755324:T:C 3585_2977_993_S->P 83 HGMD Variants: 83 chr6:146351019:C:A 3585_366_122_F->L 83 chr6:146708066:C:T 3585_1643_548_T->M 83 chr6:146708112:A:C 3585_1689_563_K->N 83 chr6:146708146:C:G 3585_1723_575_L->V 83 chr6:146719979:C:A 3585_1804_602_L->M 83 chr6:146719987:C:G 3585_1812_604_I->M 83 chr6:146720223:C:A 3585_2048_683_A->E 83 chr6:146755256:C:T 3585_2909_970_P->L 83 chr6:146755324:T:C 3585_2977_993_S->P 83 chr6:146755387:C:T 3585_3040_1014_P->S 83 chr6:146755390:C:G 3585_3043_1015_P->A 83 oneKG Variants: 83 chr6:146350699:G:C 3585_46_16_V->L 0.000199681 83 chr6:146350745:G:A 3585_92_31_G->E 0.000199681 83 chr6:146350870:C:A 3585_217_73_Q->K 0.000199681 83 chr6:146350933:G:A 3585_280_94_V->I 0.000199681 83 chr6:146350945:A:T 3585_292_98_N->Y 0.000199681 83 chr6:146351056:G:C 3585_403_135_D->H 0.000599042 83 chr6:146480607:G:A 3585_824_275_R->H 0.000199681 83 chr6:146480610:A:C 3585_827_276_K->T 0.000399361 83 chr6:146480637:G:A 3585_854_285_R->K 0.00199681 83 chr6:146480663:A:G 3585_880_294_M->V 0.000199681 83 chr6:146480705:G:A 3585_922_308_V->I 0.00279553 83 chr6:146625869:G:A 3585_1073_358_R->K 0.000599042 83 chr6:146625874:G:T 3585_1078_360_D->Y 0.000399361 83 chr6:146625971:G:C 3585_1175_392_R->P 0.000199681 83 chr6:146673521:C:A 3585_1322_441_A->D 0.000199681 83 chr6:146708026:G:A 3585_1603_535_V->I 0.000199681 83 chr6:146719910:G:A 3585_1735_579_E->K 0.000199681 83 chr6:146719965:T:A 3585_1790_597_I->N 0.000199681 83 chr6:146719967:G:A 3585_1792_598_A->T 0.000199681 83 chr6:146720013:T:G 3585_1838_613_I->S 0.000199681 83 chr6:146720157:G:A 3585_1982_661_R->H 0.000199681 83 chr6:146720360:C:A 3585_2185_729_P->T 0.0103834 83 chr6:146720390:A:G 3585_2215_739_I->V 0.000599042 83 chr6:146720587:T:G 3585_2412_804_I->M 0.000199681 83 chr6:146720777:C:G 3585_2602_868_R->G 0.000199681 83 chr6:146720784:A:G 3585_2609_870_N->S 0.000199681 83 chr6:146720826:G:A 3585_2651_884_G->E 0.00399361 83 chr6:146755043:G:A 3585_2696_899_G->D 0.000199681 83 chr6:146755103:C:G 3585_2756_919_T->S 0.000199681 83 chr6:146755132:G:A 3585_2785_929_V->I 0.0091853 83 chr6:146755165:T:A 3585_2818_940_S->T 0.000399361 83 chr6:146755324:T:C 3585_2977_993_S->P 0.395966 83 chr6:146755390:C:T 3585_3043_1015_P->S 0.00119808 83 chr6:146755454:G:T 3585_3107_1036_G->V 0.00878594 83 chr6:146755463:G:C 3585_3116_1039_S->T 0.000399361 83 chr6:146755468:T:C 3585_3121_1041_F->L 0.000199681 83 chr6:146755483:C:A 3585_3136_1046_P->T 0.000199681 83 chr6:146755508:G:A 3585_3161_1054_G->D 0.00199681 83 chr6:146755528:G:C 3585_3181_1061_G->R 0.000199681 83 chr6:146755535:G:C 3585_3188_1063_R->P 0.000399361 83 chr6:146755553:C:T 3585_3206_1069_P->L 0.00499201 83 chr6:146755559:C:G 3585_3212_1071_P->R 0.000399361 83 chr6:146755561:C:G 3585_3214_1072_P->A 0.00559105 83 chr6:146755568:A:G 3585_3221_1074_H->R 0.000199681 83 chr6:146755632:C:A 3585_3285_1095_D->E 0.000199681 83 chr6:146755642:G:T 3585_3295_1099_D->Y 0.000199681 83 chr6:146755726:G:A 3585_3379_1127_E->K 0.000199681 83 chr6:146755760:C:T 3585_3413_1138_T->I 0.000599042 83 chr6:146755793:C:T 3585_3446_1149_S->L 0.000199681 83 chr6:146755847:C:A 3585_3500_1167_S->Y 0.000199681 83 chr6:146755892:T:G 3585_3545_1182_V->G 0.000199681 83 chr6:146755904:A:G 3585_3557_1186_D->G 0.000199681 83 na12878 Variants: 83 chr6:146755324:T:C 3585_2977_993_S->P 83 snyder Variants: 83 chr6:146755324:T:C 3585_2977_993_S->P 84 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131018_ENST00000367255 gene_Name: SYNE1_HUMAN 84 list of pdbs: 84 4DXR pdb_description: 06-Jun-12 X-ray 2.320 Human sun2-kash1 complex 84 Zimmer Variants: 84 chr6:152443753:G:A 26394_26212_8738_R->C 84 chr6:152453291:G:A 26394_26060_8687_T->I 84 chr6:152469188:C:G 26394_24968_8323_G->A 84 chr6:152470752:C:A 26394_24502_8168_A->S 84 chr6:152540278:A:C 26394_21904_7302_F->V 84 chr6:152647681:A:T 26394_15043_5015_L->M 84 chr6:152772264:A:G 26394_3104_1035_V->A 84 chr6:152806014:C:T 26394_1141_381_D->N 84 chr6:152652034:A:T 26394_13786_4596_S->T 84 chr6:152777095:A:C 26394_2653_885_L->V 84 HGMD Variants: 84 chr6:152470677:G:A 26394_24577_8193_R->* 84 chr6:152522973:G:A 26394_23131_7711_Q->* 84 chr6:152534872:G:A 26394_22369_7457_Q->* 84 chr6:152545688:G:A 26394_21463_7155_R->* 84 chr6:152557375:G:A 26394_20263_6755_R->* 84 chr6:152558079:C:T 26394_20072_6691_W->* 84 chr6:152629741:A:C 26394_17229_5743_Y->* 84 chr6:152675952:G:A 26394_10768_3590_R->* 84 chr6:152690632:T:A 26394_9625_3209_K->* 84 chr6:152702455:T:A 26394_8695_2899_R->* 84 chr6:152712499:C:T 26394_7917_2639_W->* 84 chr6:152763341:G:A 26394_3877_1293_Q->* 84 chr6:152832196:G:A 26394_352_118_R->* 84 chr6:152461162:C:T 26394_25381_8461_E->K 84 chr6:152462425:C:A 26394_25159_8387_V->L 84 chr6:152469326:C:G 26394_24830_8277_S->T 84 chr6:152470619:C:T 26394_24635_8212_R->H 84 chr6:152473122:C:T 26394_24284_8095_R->H 84 chr6:152545708:T:G 26394_21443_7148_E->A 84 chr6:152558040:T:A 26394_20111_6704_Q->L 84 chr6:152671811:A:G 26394_11675_3892_L->S 84 chr6:152674425:C:A 26394_11226_3742_M->I 84 chr6:152690641:G:T 26394_9616_3206_L->M 84 chr6:152697578:C:T 26394_9262_3088_A->T 84 chr6:152771947:G:A 26394_3208_1070_P->S 84 chr6:152771967:A:G 26394_3188_1063_V->A 84 chr6:152784618:T:C 26394_1967_656_Q->R 84 chr6:152831377:C:G 26394_532_178_G->R 84 chr6:152832225:T:C 26394_323_108_N->S 84 oneKG Variants: 84 chr6:152697632:G:A 26394_9208_3070_R->* 0.000199681 84 chr6:152737559:G:A 26394_6013_2005_R->* 0.000199681 84 chr6:152751258:G:A 26394_4777_1593_Q->* 0.000199681 84 chr6:152861133:G:A 26394_91_31_R->* 0.0 84 chr6:152443575:A:C 26394_26390_8797_L->R 0.000199681 84 chr6:152443693:G:C 26394_26272_8758_L->V 0.000599042 84 chr6:152443744:G:T 26394_26221_8741_L->M 0.076877 84 chr6:152443753:G:A 26394_26212_8738_R->C 0.000199681 84 chr6:152443756:C:T 26394_26209_8737_G->S 0.033147 84 chr6:152443761:C:T 26394_26204_8735_R->Q 0.0648962 84 chr6:152453291:G:A 26394_26060_8687_T->I 0.0257588 84 chr6:152453307:C:G 26394_26044_8682_G->R 0.000399361 84 chr6:152453323:A:C 26394_26028_8676_D->E 0.000199681 84 chr6:152454496:C:T 26394_25916_8639_G->E 0.000399361 84 chr6:152454556:A:G 26394_25856_8619_L->P 0.000599042 84 chr6:152456251:G:C 26394_25776_8592_H->Q 0.000199681 84 chr6:152456276:T:G 26394_25751_8584_D->A 0.000199681 84 chr6:152456292:T:C 26394_25735_8579_I->V 0.000199681 84 chr6:152457775:T:C 26394_25637_8546_Q->R 0.000199681 84 chr6:152457778:A:C 26394_25634_8545_L->R 0.000199681 84 chr6:152457787:C:T 26394_25625_8542_R->Q 0.000199681 84 chr6:152457824:G:A 26394_25588_8530_R->C 0.000199681 84 chr6:152461162:C:T 26394_25381_8461_E->K 0.000798722 84 chr6:152461189:T:C 26394_25354_8452_I->V 0.000199681 84 chr6:152461281:C:G 26394_25262_8421_W->S 0.000199681 84 chr6:152462359:T:C 26394_25225_8409_S->G 0.000798722 84 chr6:152462418:C:T 26394_25166_8389_R->K 0.000199681 84 chr6:152462449:C:T 26394_25135_8379_E->K 0.000199681 84 chr6:152464786:G:A 26394_25091_8364_P->L 0.000199681 84 chr6:152464841:G:A 26394_25036_8346_R->C 0.000199681 84 chr6:152464885:A:C 26394_24992_8331_L->R 0.000199681 84 chr6:152464892:T:C 26394_24985_8329_S->G 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26250_3955_1319_E->K 0.000399361 85 chr6:152763307:C:G 26250_3932_1311_G->A 0.000199681 85 chr6:152763328:G:A 26250_3911_1304_A->V 0.00599042 85 chr6:152763346:T:C 26250_3893_1298_D->G 0.000199681 85 chr6:152763368:G:A 26250_3871_1291_R->W 0.000599042 85 chr6:152765647:C:T 26250_3757_1253_E->K 0.000399361 85 chr6:152765713:C:T 26250_3691_1231_V->I 0.000199681 85 chr6:152768682:C:A 26250_3601_1201_V->F 0.000199681 85 chr6:152768726:T:G 26250_3557_1186_E->A 0.000798722 85 chr6:152768738:G:A 26250_3545_1182_T->I 0.000199681 85 chr6:152770672:A:G 26250_3521_1174_V->A 0.000199681 85 chr6:152770691:C:T 26250_3502_1168_G->R 0.000199681 85 chr6:152771789:G:T 26250_3387_1129_D->E 0.000199681 85 chr6:152771884:G:A 26250_3292_1098_R->W 0.000199681 85 chr6:152771886:A:C 26250_3290_1097_V->G 0.000199681 85 chr6:152771967:A:G 26250_3209_1070_V->A 0.000798722 85 chr6:152772239:A:C 26250_3150_1050_D->E 0.000199681 85 chr6:152772259:C:T 26250_3130_1044_E->K 0.000599042 85 chr6:152772264:A:G 26250_3125_1042_V->A 0.392772 85 chr6:152772294:T:A 26250_3095_1032_D->V 0.000199681 85 chr6:152774753:C:T 26250_3016_1006_E->K 0.00199681 85 chr6:152774763:C:A 26250_3006_1002_Q->H 0.000199681 85 chr6:152776568:C:T 26250_2906_969_R->K 0.000199681 85 chr6:152776571:C:T 26250_2903_968_R->Q 0.00219649 85 chr6:152776572:G:A 26250_2902_968_R->W 0.000798722 85 chr6:152776644:C:T 26250_2830_944_A->T 0.000199681 85 chr6:152776646:C:T 26250_2828_943_R->Q 0.000199681 85 chr6:152776674:G:A 26250_2800_934_R->C 0.000199681 85 chr6:152776725:T:C 26250_2749_917_S->G 0.000998403 85 chr6:152777064:G:C 26250_2705_902_T->R 0.000199681 85 chr6:152777095:A:C 26250_2674_892_L->V 0.0433307 85 chr6:152777152:T:C 26250_2617_873_K->E 0.000199681 85 chr6:152779914:G:A 26250_2567_856_A->V 0.000399361 85 chr6:152779932:C:T 26250_2549_850_R->H 0.000399361 85 chr6:152779933:G:A 26250_2548_850_R->C 0.0115815 85 chr6:152779942:C:T 26250_2539_847_V->I 0.000199681 85 chr6:152780046:G:A 26250_2435_812_P->L 0.000399361 85 chr6:152780065:C:T 26250_2416_806_V->I 0.00319489 85 chr6:152783903:C:T 26250_2241_747_M->I 0.00519169 85 chr6:152783946:T:C 26250_2198_733_E->G 0.00219649 85 chr6:152784571:C:A 26250_2035_679_D->Y 0.000399361 85 chr6:152784621:T:C 26250_1985_662_Q->R 0.00399361 85 chr6:152786403:T:C 26250_1943_648_N->S 0.000199681 85 chr6:152786487:G:A 26250_1859_620_S->F 0.00279553 85 chr6:152786542:T:C 26250_1804_602_R->G 0.000199681 85 chr6:152792734:C:T 26250_1651_551_V->M 0.000199681 85 chr6:152792742:T:C 26250_1643_548_Q->R 0.000399361 85 chr6:152792862:A:G 26250_1523_508_M->T 0.000199681 85 chr6:152792881:T:C 26250_1504_502_T->A 0.00159744 85 chr6:152792883:G:A 26250_1502_501_S->F 0.000199681 85 chr6:152793508:T:C 26250_1412_471_H->R 0.000399361 85 chr6:152793539:G:C 26250_1381_461_Q->E 0.000199681 85 chr6:152804240:G:A 26250_1351_451_R->W 0.000199681 85 chr6:152804291:C:G 26250_1300_434_E->Q 0.000199681 85 chr6:152806014:C:T 26250_1162_388_D->N 0.00199681 85 chr6:152809602:A:G 26250_997_333_W->R 0.000199681 85 chr6:152823790:C:G 26250_887_296_S->T 0.000599042 85 chr6:152826407:C:T 26250_728_243_R->Q 0.000199681 85 chr6:152826456:T:C 26250_679_227_I->V 0.000199681 85 chr6:152826460:A:C 26250_675_225_H->Q 0.000199681 85 chr6:152831331:C:T 26250_599_200_G->D 0.000199681 85 chr6:152831414:G:T 26250_516_172_S->R 0.000199681 85 chr6:152832720:G:A 26250_316_106_H->Y 0.000399361 85 chr6:152841605:C:T 26250_298_100_E->K 0.000199681 85 chr6:152841649:C:T 26250_254_85_R->Q 0.000199681 85 chr6:152841658:C:T 26250_245_82_R->Q 0.000199681 85 chr6:152847259:C:T 26250_181_61_V->I 0.000599042 85 na12878 Variants: 85 chr6:152453291:G:A 26250_25916_8639_T->I 85 chr6:152540278:A:C 26250_21691_7231_F->V 85 chr6:152647681:A:T 26250_14830_4944_L->M 85 chr6:152658142:T:C 26250_12149_4050_K->R 85 chr6:152772264:A:G 26250_3125_1042_V->A 85 chr6:152784621:T:C 26250_1985_662_Q->R 85 chr6:152443744:G:T 26250_26077_8693_L->M 85 chr6:152652034:A:T 26250_13573_4525_S->T 85 chr6:152665261:C:A 26250_11967_3989_E->D 85 snyder Variants: 85 chr6:152469188:C:G 26250_24755_8252_G->A 85 chr6:152470752:C:A 26250_24289_8097_A->S 85 chr6:152540278:A:C 26250_21691_7231_F->V 85 chr6:152647681:A:T 26250_14830_4944_L->M 85 chr6:152658141:C:A 26250_12150_4050_K->N 85 chr6:152658142:T:C 26250_12149_4050_K->R 85 chr6:152772264:A:G 26250_3125_1042_V->A 85 chr6:152443761:C:T 26250_26060_8687_R->Q 85 chr6:152652034:A:T 26250_13573_4525_S->T 85 chr6:152665261:C:A 26250_11967_3989_E->D 85 chr6:152777095:A:C 26250_2674_892_L->V 86 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131018_ENST00000367253 gene_Name: SYNE1_HUMAN 86 list of pdbs: 86 4DXR pdb_description: 06-Jun-12 X-ray 2.320 Human sun2-kash1 complex 86 Zimmer Variants: 86 chr6:152772264:A:G 5178_3104_1035_V->A 86 chr6:152806014:C:T 5178_1141_381_D->N 86 chr6:152777095:A:C 5178_2653_885_L->V 86 HGMD Variants: 86 chr6:152763341:G:A 5178_3877_1293_Q->* 86 chr6:152832196:G:A 5178_352_118_R->* 86 chr6:152771947:G:A 5178_3208_1070_P->S 86 chr6:152771967:A:G 5178_3188_1063_V->A 86 chr6:152784618:T:C 5178_1967_656_Q->R 86 chr6:152831377:C:G 5178_532_178_G->R 86 chr6:152832225:T:C 5178_323_108_N->S 86 oneKG Variants: 86 chr6:152751258:G:A 5178_4777_1593_Q->* 0.000199681 86 chr6:152861133:G:A 5178_91_31_R->* 0.0 86 chr6:152748775:A:T 5178_5153_1718_V->D 0.000199681 86 chr6:152748871:G:C 5178_5057_1686_S->C 0.000399361 86 chr6:152748911:G:A 5178_5017_1673_R->W 0.000199681 86 chr6:152749373:G:A 5178_4943_1648_T->M 0.000199681 86 chr6:152749427:G:A 5178_4889_1630_A->V 0.00359425 86 chr6:152749494:C:T 5178_4822_1608_A->T 0.000599042 86 chr6:152749502:A:T 5178_4814_1605_L->Q 0.000199681 86 chr6:152751278:G:T 5178_4757_1586_T->K 0.0107827 86 chr6:152751300:T:C 5178_4735_1579_I->V 0.000199681 86 chr6:152751312:G:A 5178_4723_1575_L->F 0.000599042 86 chr6:152751696:C:T 5178_4610_1537_R->Q 0.00459265 86 chr6:152751709:C:T 5178_4597_1533_G->R 0.000199681 86 chr6:152751819:T:C 5178_4487_1496_K->R 0.000199681 86 chr6:152751829:T:C 5178_4477_1493_I->V 0.000399361 86 chr6:152751835:G:C 5178_4471_1491_Q->E 0.000199681 86 chr6:152755013:C:T 5178_4378_1460_V->I 0.000199681 86 chr6:152757122:A:T 5178_4264_1422_S->T 0.000199681 86 chr6:152757166:G:A 5178_4220_1407_P->L 0.000399361 86 chr6:152757197:C:T 5178_4189_1397_E->K 0.000399361 86 chr6:152757224:G:A 5178_4162_1388_R->W 0.00239617 86 chr6:152762307:A:T 5178_4107_1369_F->L 0.000199681 86 chr6:152762383:C:T 5178_4031_1344_R->Q 0.000399361 86 chr6:152763266:C:G 5178_3952_1318_E->Q 0.000399361 86 chr6:152763282:C:G 5178_3936_1312_E->D 0.000399361 86 chr6:152763284:C:T 5178_3934_1312_E->K 0.000399361 86 chr6:152763307:C:G 5178_3911_1304_G->A 0.000199681 86 chr6:152763328:G:A 5178_3890_1297_A->V 0.00599042 86 chr6:152763346:T:C 5178_3872_1291_D->G 0.000199681 86 chr6:152763368:G:A 5178_3850_1284_R->W 0.000599042 86 chr6:152765647:C:T 5178_3736_1246_E->K 0.000399361 86 chr6:152765713:C:T 5178_3670_1224_V->I 0.000199681 86 chr6:152768682:C:A 5178_3580_1194_V->F 0.000199681 86 chr6:152768726:T:G 5178_3536_1179_E->A 0.000798722 86 chr6:152768738:G:A 5178_3524_1175_T->I 0.000199681 86 chr6:152770672:A:G 5178_3500_1167_V->A 0.000199681 86 chr6:152770691:C:T 5178_3481_1161_G->R 0.000199681 86 chr6:152771789:G:T 5178_3366_1122_D->E 0.000199681 86 chr6:152771884:G:A 5178_3271_1091_R->W 0.000199681 86 chr6:152771886:A:C 5178_3269_1090_V->G 0.000199681 86 chr6:152771967:A:G 5178_3188_1063_V->A 0.000798722 86 chr6:152772239:A:C 5178_3129_1043_D->E 0.000199681 86 chr6:152772259:C:T 5178_3109_1037_E->K 0.000599042 86 chr6:152772264:A:G 5178_3104_1035_V->A 0.392772 86 chr6:152772294:T:A 5178_3074_1025_D->V 0.000199681 86 chr6:152774753:C:T 5178_2995_999_E->K 0.00199681 86 chr6:152774763:C:A 5178_2985_995_Q->H 0.000199681 86 chr6:152776568:C:T 5178_2885_962_R->K 0.000199681 86 chr6:152776571:C:T 5178_2882_961_R->Q 0.00219649 86 chr6:152776572:G:A 5178_2881_961_R->W 0.000798722 86 chr6:152776644:C:T 5178_2809_937_A->T 0.000199681 86 chr6:152776646:C:T 5178_2807_936_R->Q 0.000199681 86 chr6:152776674:G:A 5178_2779_927_R->C 0.000199681 86 chr6:152776725:T:C 5178_2728_910_S->G 0.000998403 86 chr6:152777064:G:C 5178_2684_895_T->R 0.000199681 86 chr6:152777095:A:C 5178_2653_885_L->V 0.0433307 86 chr6:152777152:T:C 5178_2596_866_K->E 0.000199681 86 chr6:152779914:G:A 5178_2546_849_A->V 0.000399361 86 chr6:152779932:C:T 5178_2528_843_R->H 0.000399361 86 chr6:152779933:G:A 5178_2527_843_R->C 0.0115815 86 chr6:152779942:C:T 5178_2518_840_V->I 0.000199681 86 chr6:152780046:G:A 5178_2414_805_P->L 0.000399361 86 chr6:152780065:C:T 5178_2395_799_V->I 0.00319489 86 chr6:152783903:C:T 5178_2220_740_M->I 0.00519169 86 chr6:152783946:T:C 5178_2177_726_E->G 0.00219649 86 chr6:152784571:C:A 5178_2014_672_D->Y 0.000399361 86 chr6:152784621:T:C 5178_1964_655_Q->R 0.00399361 86 chr6:152786403:T:C 5178_1922_641_N->S 0.000199681 86 chr6:152786487:G:A 5178_1838_613_S->F 0.00279553 86 chr6:152786542:T:C 5178_1783_595_R->G 0.000199681 86 chr6:152792734:C:T 5178_1630_544_V->M 0.000199681 86 chr6:152792742:T:C 5178_1622_541_Q->R 0.000399361 86 chr6:152792862:A:G 5178_1502_501_M->T 0.000199681 86 chr6:152792881:T:C 5178_1483_495_T->A 0.00159744 86 chr6:152792883:G:A 5178_1481_494_S->F 0.000199681 86 chr6:152793508:T:C 5178_1391_464_H->R 0.000399361 86 chr6:152793539:G:C 5178_1360_454_Q->E 0.000199681 86 chr6:152804240:G:A 5178_1330_444_R->W 0.000199681 86 chr6:152804291:C:G 5178_1279_427_E->Q 0.000199681 86 chr6:152806014:C:T 5178_1141_381_D->N 0.00199681 86 chr6:152809602:A:G 5178_976_326_W->R 0.000199681 86 chr6:152823790:C:G 5178_866_289_S->T 0.000599042 86 chr6:152826407:C:T 5178_707_236_R->Q 0.000199681 86 chr6:152826456:T:C 5178_658_220_I->V 0.000199681 86 chr6:152826460:A:C 5178_654_218_H->Q 0.000199681 86 chr6:152831331:C:T 5178_578_193_G->D 0.000199681 86 chr6:152831414:G:T 5178_495_165_S->R 0.000199681 86 chr6:152841605:C:T 5178_298_100_E->K 0.000199681 86 chr6:152841649:C:T 5178_254_85_R->Q 0.000199681 86 chr6:152841658:C:T 5178_245_82_R->Q 0.000199681 86 chr6:152847259:C:T 5178_181_61_V->I 0.000599042 86 na12878 Variants: 86 chr6:152772264:A:G 5178_3104_1035_V->A 86 chr6:152784621:T:C 5178_1964_655_Q->R 86 snyder Variants: 86 chr6:152772264:A:G 5178_3104_1035_V->A 86 chr6:152777095:A:C 5178_2653_885_L->V 87 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131018_ENST00000413186 gene_Name: SYNE1_HUMAN 87 list of pdbs: 87 4DXR pdb_description: 06-Jun-12 X-ray 2.320 Human sun2-kash1 complex 87 Zimmer Variants: 87 chr6:152772264:A:G 4332_3104_1035_V->A;HUB=PPI;GNEG=Yes;GENE=SYNE1;CDSS=4;DBRECUR=SYNE1 87 chr6:152806014:C:T 4332_1141_381_D->N 87 chr6:152777095:A:C 4332_2653_885_L->V 87 HGMD Variants: 87 chr6:152763341:G:A 4332_3877_1293_Q->* 87 chr6:152832196:G:A 4332_352_118_R->* 87 chr6:152771947:G:A 4332_3208_1070_P->S 87 chr6:152771967:A:G 4332_3188_1063_V->A 87 chr6:152784618:T:C 4332_1967_656_Q->R 87 chr6:152831377:C:G 4332_532_178_G->R 87 chr6:152832225:T:C 4332_323_108_N->S 87 oneKG Variants: 87 chr6:152861133:G:A 4332_91_31_R->* 0.0 87 chr6:152757122:A:T 4332_4264_1422_S->T 0.000199681 87 chr6:152757166:G:A 4332_4220_1407_P->L 0.000399361 87 chr6:152757197:C:T 4332_4189_1397_E->K 0.000399361 87 chr6:152757224:G:A 4332_4162_1388_R->W 0.00239617 87 chr6:152762307:A:T 4332_4107_1369_F->L 0.000199681 87 chr6:152762383:C:T 4332_4031_1344_R->Q 0.000399361 87 chr6:152763266:C:G 4332_3952_1318_E->Q 0.000399361 87 chr6:152763282:C:G 4332_3936_1312_E->D 0.000399361 87 chr6:152763284:C:T 4332_3934_1312_E->K 0.000399361 87 chr6:152763307:C:G 4332_3911_1304_G->A 0.000199681 87 chr6:152763328:G:A 4332_3890_1297_A->V 0.00599042 87 chr6:152763346:T:C 4332_3872_1291_D->G 0.000199681 87 chr6:152763368:G:A 4332_3850_1284_R->W 0.000599042 87 chr6:152765647:C:T 4332_3736_1246_E->K 0.000399361 87 chr6:152765713:C:T 4332_3670_1224_V->I 0.000199681 87 chr6:152768682:C:A 4332_3580_1194_V->F 0.000199681 87 chr6:152768726:T:G 4332_3536_1179_E->A 0.000798722 87 chr6:152768738:G:A 4332_3524_1175_T->I 0.000199681 87 chr6:152770672:A:G 4332_3500_1167_V->A 0.000199681 87 chr6:152770691:C:T 4332_3481_1161_G->R 0.000199681 87 chr6:152771789:G:T 4332_3366_1122_D->E 0.000199681 87 chr6:152771884:G:A 4332_3271_1091_R->W 0.000199681 87 chr6:152771886:A:C 4332_3269_1090_V->G 0.000199681 87 chr6:152771967:A:G 4332_3188_1063_V->A 0.000798722 87 chr6:152772239:A:C 4332_3129_1043_D->E 0.000199681 87 chr6:152772259:C:T 4332_3109_1037_E->K 0.000599042 87 chr6:152772264:A:G 4332_3104_1035_V->A 0.392772 87 chr6:152772294:T:A 4332_3074_1025_D->V 0.000199681 87 chr6:152774753:C:T 4332_2995_999_E->K 0.00199681 87 chr6:152774763:C:A 4332_2985_995_Q->H 0.000199681 87 chr6:152776568:C:T 4332_2885_962_R->K 0.000199681 87 chr6:152776571:C:T 4332_2882_961_R->Q 0.00219649 87 chr6:152776572:G:A 4332_2881_961_R->W 0.000798722 87 chr6:152776644:C:T 4332_2809_937_A->T 0.000199681 87 chr6:152776646:C:T 4332_2807_936_R->Q 0.000199681 87 chr6:152776674:G:A 4332_2779_927_R->C 0.000199681 87 chr6:152776725:T:C 4332_2728_910_S->G 0.000998403 87 chr6:152777064:G:C 4332_2684_895_T->R 0.000199681 87 chr6:152777095:A:C 4332_2653_885_L->V 0.0433307 87 chr6:152777152:T:C 4332_2596_866_K->E 0.000199681 87 chr6:152779914:G:A 4332_2546_849_A->V 0.000399361 87 chr6:152779932:C:T 4332_2528_843_R->H 0.000399361 87 chr6:152779933:G:A 4332_2527_843_R->C 0.0115815 87 chr6:152779942:C:T 4332_2518_840_V->I 0.000199681 87 chr6:152780046:G:A 4332_2414_805_P->L 0.000399361 87 chr6:152780065:C:T 4332_2395_799_V->I 0.00319489 87 chr6:152783903:C:T 4332_2220_740_M->I 0.00519169 87 chr6:152783946:T:C 4332_2177_726_E->G 0.00219649 87 chr6:152784571:C:A 4332_2014_672_D->Y 0.000399361 87 chr6:152784621:T:C 4332_1964_655_Q->R 0.00399361 87 chr6:152786403:T:C 4332_1922_641_N->S 0.000199681 87 chr6:152786487:G:A 4332_1838_613_S->F 0.00279553 87 chr6:152786542:T:C 4332_1783_595_R->G 0.000199681 87 chr6:152792734:C:T 4332_1630_544_V->M 0.000199681 87 chr6:152792742:T:C 4332_1622_541_Q->R 0.000399361 87 chr6:152792862:A:G 4332_1502_501_M->T 0.000199681 87 chr6:152792881:T:C 4332_1483_495_T->A 0.00159744 87 chr6:152792883:G:A 4332_1481_494_S->F 0.000199681 87 chr6:152793508:T:C 4332_1391_464_H->R 0.000399361 87 chr6:152793539:G:C 4332_1360_454_Q->E 0.000199681 87 chr6:152804240:G:A 4332_1330_444_R->W 0.000199681 87 chr6:152804291:C:G 4332_1279_427_E->Q 0.000199681 87 chr6:152806014:C:T 4332_1141_381_D->N 0.00199681 87 chr6:152809602:A:G 4332_976_326_W->R 0.000199681 87 chr6:152823790:C:G 4332_866_289_S->T 0.000599042 87 chr6:152826407:C:T 4332_707_236_R->Q 0.000199681 87 chr6:152826456:T:C 4332_658_220_I->V 0.000199681 87 chr6:152826460:A:C 4332_654_218_H->Q 0.000199681 87 chr6:152831331:C:T 4332_578_193_G->D 0.000199681 87 chr6:152831414:G:T 4332_495_165_S->R 0.000199681 87 chr6:152841605:C:T 4332_298_100_E->K 0.000199681 87 chr6:152841649:C:T 4332_254_85_R->Q 0.000199681 87 chr6:152841658:C:T 4332_245_82_R->Q 0.000199681 87 chr6:152847259:C:T 4332_181_61_V->I 0.000599042 87 na12878 Variants: 87 chr6:152772264:A:G 4332_3104_1035_V->A 87 chr6:152784621:T:C 4332_1964_655_Q->R 87 snyder Variants: 87 chr6:152772264:A:G 4332_3104_1035_V->A 87 chr6:152777095:A:C 4332_2653_885_L->V 88 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000064999_ENST00000360359 gene_Name: ANS1A_HUMAN 88 list of pdbs: 88 2LMR pdb_description: 14-Mar-12 NMR 20 Solution structure of the first sam domain of odin 88 Zimmer Variants: 88 chr6:35027927:T:C 3405_2081_694_L->S;HUB=PHOS;GNEG=Yes;GENE=ANKS1A;CDSS=4 88 HGMD Variants: 88 chr6:34985466:C:T 3405_1640_547_T->M 88 chr6:35048876:C:T 3405_2650_884_R->C 88 oneKG Variants: 88 chr6:34937897:G:A 3405_389_130_R->Q 0.000199681 88 chr6:34950535:A:G 3405_739_247_M->V 0.000199681 88 chr6:34950898:G:A 3405_817_273_V->I 0.000399361 88 chr6:34950972:A:C 3405_891_297_Q->H 0.000199681 88 chr6:34952873:G:A 3405_1027_343_A->T 0.00299521 88 chr6:34952904:C:G 3405_1058_353_A->G 0.000199681 88 chr6:34952910:C:A 3405_1064_355_A->D 0.013778 88 chr6:34952921:G:A 3405_1075_359_G->S 0.000199681 88 chr6:34952940:A:T 3405_1094_365_Y->F 0.000798722 88 chr6:34952961:C:T 3405_1115_372_S->L 0.000199681 88 chr6:34952966:G:A 3405_1120_374_D->N 0.000399361 88 chr6:34952981:G:C 3405_1135_379_G->R 0.000199681 88 chr6:34952985:G:A 3405_1139_380_R->Q 0.000199681 88 chr6:34953054:C:T 3405_1208_403_P->L 0.000199681 88 chr6:34957001:A:G 3405_1210_404_R->G 0.000199681 88 chr6:34957037:G:A 3405_1246_416_D->N 0.00279553 88 chr6:34962163:A:G 3405_1387_463_T->A 0.000199681 88 chr6:34962173:T:C 3405_1397_466_V->A 0.000199681 88 chr6:34962193:A:G 3405_1417_473_T->A 0.00519169 88 chr6:34985274:G:A 3405_1448_483_R->Q 0.000199681 88 chr6:34985303:G:A 3405_1477_493_G->R 0.000199681 88 chr6:34985459:G:C 3405_1633_545_E->Q 0.000199681 88 chr6:34985466:C:T 3405_1640_547_T->M 0.000199681 88 chr6:34985474:C:T 3405_1648_550_H->Y 0.00119808 88 chr6:34985553:A:C 3405_1727_576_N->T 0.104832 88 chr6:34985558:C:G 3405_1732_578_R->G 0.00638978 88 chr6:34985559:G:A 3405_1733_578_R->H 0.000399361 88 chr6:34985624:C:T 3405_1798_600_R->W 0.000199681 88 chr6:34985646:C:T 3405_1820_607_A->V 0.000199681 88 chr6:34985774:A:C 3405_1948_650_N->H 0.000199681 88 chr6:35027927:T:C 3405_2081_694_L->S 0.009585 88 chr6:35027962:G:A 3405_2116_706_E->K 0.000199681 88 chr6:35046361:C:G 3405_2211_737_D->E 0.000199681 88 chr6:35046389:C:A 3405_2239_747_Q->K 0.000199681 88 chr6:35046396:G:A 3405_2246_749_R->Q 0.000399361 88 chr6:35046419:C:T 3405_2269_757_R->C 0.000199681 88 chr6:35047326:C:G 3405_2317_773_P->A 0.000199681 88 chr6:35047371:G:A 3405_2362_788_V->I 0.0 88 chr6:35047704:G:A 3405_2543_848_R->K 0.000199681 88 chr6:35048831:C:T 3405_2605_869_R->W 0.000199681 88 chr6:35048864:A:G 3405_2638_880_T->A 0.000199681 88 chr6:35048886:G:A 3405_2660_887_S->N 0.000199681 88 chr6:35048901:C:T 3405_2675_892_A->V 0.000399361 88 chr6:35048913:G:A 3405_2687_896_R->Q 0.00119808 88 chr6:35050502:C:G 3405_2744_915_P->R 0.000199681 88 chr6:35050531:G:T 3405_2773_925_V->L 0.000399361 88 chr6:35050585:G:A 3405_2827_943_E->K 0.000199681 88 chr6:35050952:C:G 3405_2856_952_I->M 0.000798722 88 chr6:35051001:C:T 3405_2905_969_R->W 0.000199681 88 chr6:35051923:G:A 3405_3020_1007_R->Q 0.000199681 88 chr6:35051979:A:T 3405_3076_1026_T->S 0.000199681 88 chr6:35051995:C:G 3405_3092_1031_T->S 0.000399361 88 chr6:35052027:G:A 3405_3124_1042_V->M 0.000199681 88 chr6:35053617:G:T 3405_3207_1069_Q->H 0.000199681 88 chr6:35053636:G:A 3405_3226_1076_A->T 0.000399361 88 chr6:35053699:G:A 3405_3289_1097_V->M 0.000599042 88 chr6:35054738:C:T 3405_3313_1105_P->S 0.000199681 88 chr6:35054745:T:C 3405_3320_1107_M->T 0.000399361 88 na12878 Variants: 88 chr6:35027927:T:C 3405_2081_694_L->S 88 snyder Variants: 88 chr6:35027927:T:C 3405_2081_694_L->S 89 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000397501 gene_Name: FAK2_HUMAN 89 list of pdbs: 89 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 89 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 89 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 89 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 89 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 89 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 89 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 89 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 89 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 89 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 89 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 89 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 89 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 89 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 89 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 89 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 89 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 89 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 89 Zimmer Variants: 89 chr8:27308585:A:C 3030_2513_838_K->T 89 HGMD Variants: 89 chr8:27288396:A:G 3030_673_225_K->E 89 chr8:27293308:G:T 3030_1241_414_G->V 89 chr8:27310673:C:T 3030_2591_864_A->V 89 oneKG Variants: 89 chr8:27255130:G:A 3030_29_10_R->Q 0.000599042 89 chr8:27255154:G:A 3030_53_18_R->Q 0.000399361 89 chr8:27255295:C:T 3030_194_65_T->M 0.000599042 89 chr8:27277425:C:A 3030_218_73_S->Y 0.000199681 89 chr8:27277439:G:A 3030_232_78_G->R 0.000199681 89 chr8:27277476:A:G 3030_269_90_Y->C 0.000199681 89 chr8:27277505:G:A 3030_298_100_D->N 0.000399361 89 chr8:27277553:G:T 3030_346_116_D->Y 0.000199681 89 chr8:27278218:G:A 3030_428_143_S->N 0.000199681 89 chr8:27278254:A:G 3030_464_155_Y->C 0.000199681 89 chr8:27287926:G:T 3030_660_220_E->D 0.000199681 89 chr8:27288442:C:T 3030_719_240_S->L 0.000199681 89 chr8:27288499:A:G 3030_776_259_N->S 0.000199681 89 chr8:27288501:A:G 3030_778_260_I->V 0.000998403 89 chr8:27288514:C:A 3030_791_264_T->N 0.00319489 89 chr8:27289838:G:A 3030_947_316_G->D 0.000199681 89 chr8:27289840:C:G 3030_949_317_Q->E 0.000199681 89 chr8:27291039:C:G 3030_1075_359_Q->E 0.000998403 89 chr8:27292044:G:A 3030_1160_387_R->Q 0.000199681 89 chr8:27292047:G:A 3030_1163_388_R->Q 0.00279553 89 chr8:27292053:A:T 3030_1169_390_H->L 0.000199681 89 chr8:27293284:C:A 3030_1217_406_P->H 0.000199681 89 chr8:27293299:G:A 3030_1232_411_R->Q 0.000199681 89 chr8:27293308:G:A,T 3030_1241_414_G->E 0.000399361 89 chr8:27293308:G:A,T 3030_1241_414_G->V 0.000399361 89 chr8:27293794:G:T 3030_1270_424_D->Y 0.000399361 89 chr8:27293809:C:T 3030_1285_429_R->C 0.000399361 89 chr8:27293810:G:A 3030_1286_429_R->H 0.000199681 89 chr8:27294684:T:C 3030_1387_463_C->R 0.000199681 89 chr8:27294715:G:A 3030_1418_473_S->N 0.000199681 89 chr8:27294930:G:A 3030_1444_482_D->N 0.000199681 89 chr8:27295333:G:A 3030_1579_527_V->M 0.000399361 89 chr8:27295390:G:A 3030_1636_546_V->M 0.000199681 89 chr8:27296610:G:T 3030_1706_569_G->V 0.000199681 89 chr8:27296832:T:C 3030_1751_584_V->A 0.000199681 89 chr8:27297819:G:A 3030_1900_634_V->I 0.000199681 89 chr8:27297886:C:A 3030_1967_656_T->N 0.000199681 89 chr8:27297898:G:A 3030_1979_660_R->H 0.000199681 89 chr8:27297912:G:A 3030_1993_665_D->N 0.000199681 89 chr8:27300396:G:A 3030_2044_682_V->I 0.000399361 89 chr8:27300399:T:C 3030_2047_683_Y->H 0.000399361 89 chr8:27300416:C:A 3030_2064_688_D->E 0.000199681 89 chr8:27300445:G:A 3030_2093_698_R->H 0.000399361 89 chr8:27300465:T:A 3030_2113_705_L->M 0.000199681 89 chr8:27301751:C:T 3030_2177_726_P->L 0.000399361 89 chr8:27303321:G:T 3030_2225_742_G->V 0.000798722 89 chr8:27303374:G:A 3030_2278_760_V->I 0.000399361 89 chr8:27303418:C:G 3030_2322_774_F->L 0.000199681 89 chr8:27303423:G:A 3030_2327_776_R->H 0.000199681 89 chr8:27303425:C:T 3030_2329_777_H->Y 0.000199681 89 chr8:27308585:A:C 3030_2513_838_K->T 0.364617 89 chr8:27309014:G:A 3030_2536_846_E->K 0.000199681 89 chr8:27310673:C:T 3030_2591_864_A->V 0.000199681 89 chr8:27311723:A:G 3030_2648_883_N->S 0.000199681 89 chr8:27311785:G:A 3030_2710_904_E->K 0.000199681 89 chr8:27315902:G:A 3030_2906_969_S->N 0.000199681 89 na12878 Variants: 89 chr8:27308585:A:C 3030_2513_838_K->T 89 snyder Variants: 89 chr8:27308585:A:C 3030_2513_838_K->T 90 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000338238 gene_Name: FAK2_HUMAN 90 list of pdbs: 90 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 90 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 90 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 90 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 90 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 90 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 90 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 90 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 90 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 90 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 90 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 90 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 90 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 90 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 90 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 90 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 90 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 90 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 90 Zimmer Variants: 90 chr8:27308585:A:C 2904_2387_796_K->T 90 HGMD Variants: 90 chr8:27288396:A:G 2904_673_225_K->E 90 chr8:27293308:G:T 2904_1241_414_G->V 90 chr8:27310673:C:T 2904_2465_822_A->V 90 oneKG Variants: 90 chr8:27255130:G:A 2904_29_10_R->Q 0.000599042 90 chr8:27255154:G:A 2904_53_18_R->Q 0.000399361 90 chr8:27255295:C:T 2904_194_65_T->M 0.000599042 90 chr8:27277425:C:A 2904_218_73_S->Y 0.000199681 90 chr8:27277439:G:A 2904_232_78_G->R 0.000199681 90 chr8:27277476:A:G 2904_269_90_Y->C 0.000199681 90 chr8:27277505:G:A 2904_298_100_D->N 0.000399361 90 chr8:27277553:G:T 2904_346_116_D->Y 0.000199681 90 chr8:27278218:G:A 2904_428_143_S->N 0.000199681 90 chr8:27278254:A:G 2904_464_155_Y->C 0.000199681 90 chr8:27287926:G:T 2904_660_220_E->D 0.000199681 90 chr8:27288442:C:T 2904_719_240_S->L 0.000199681 90 chr8:27288499:A:G 2904_776_259_N->S 0.000199681 90 chr8:27288501:A:G 2904_778_260_I->V 0.000998403 90 chr8:27288514:C:A 2904_791_264_T->N 0.00319489 90 chr8:27289838:G:A 2904_947_316_G->D 0.000199681 90 chr8:27289840:C:G 2904_949_317_Q->E 0.000199681 90 chr8:27291039:C:G 2904_1075_359_Q->E 0.000998403 90 chr8:27292044:G:A 2904_1160_387_R->Q 0.000199681 90 chr8:27292047:G:A 2904_1163_388_R->Q 0.00279553 90 chr8:27292053:A:T 2904_1169_390_H->L 0.000199681 90 chr8:27293284:C:A 2904_1217_406_P->H 0.000199681 90 chr8:27293299:G:A 2904_1232_411_R->Q 0.000199681 90 chr8:27293308:G:A,T 2904_1241_414_G->E 0.000399361 90 chr8:27293308:G:A,T 2904_1241_414_G->V 0.000399361 90 chr8:27293794:G:T 2904_1270_424_D->Y 0.000399361 90 chr8:27293809:C:T 2904_1285_429_R->C 0.000399361 90 chr8:27293810:G:A 2904_1286_429_R->H 0.000199681 90 chr8:27294684:T:C 2904_1387_463_C->R 0.000199681 90 chr8:27294715:G:A 2904_1418_473_S->N 0.000199681 90 chr8:27294930:G:A 2904_1444_482_D->N 0.000199681 90 chr8:27295333:G:A 2904_1579_527_V->M 0.000399361 90 chr8:27295390:G:A 2904_1636_546_V->M 0.000199681 90 chr8:27296610:G:T 2904_1706_569_G->V 0.000199681 90 chr8:27296832:T:C 2904_1751_584_V->A 0.000199681 90 chr8:27297819:G:A 2904_1900_634_V->I 0.000199681 90 chr8:27297886:C:A 2904_1967_656_T->N 0.000199681 90 chr8:27297898:G:A 2904_1979_660_R->H 0.000199681 90 chr8:27297912:G:A 2904_1993_665_D->N 0.000199681 90 chr8:27300396:G:A 2904_2044_682_V->I 0.000399361 90 chr8:27300399:T:C 2904_2047_683_Y->H 0.000399361 90 chr8:27300416:C:A 2904_2064_688_D->E 0.000199681 90 chr8:27300445:G:A 2904_2093_698_R->H 0.000399361 90 chr8:27300465:T:A 2904_2113_705_L->M 0.000199681 90 chr8:27301751:C:T 2904_2177_726_P->L 0.000399361 90 chr8:27308585:A:C 2904_2387_796_K->T 0.364617 90 chr8:27309014:G:A 2904_2410_804_E->K 0.000199681 90 chr8:27310673:C:T 2904_2465_822_A->V 0.000199681 90 chr8:27311723:A:G 2904_2522_841_N->S 0.000199681 90 chr8:27311785:G:A 2904_2584_862_E->K 0.000199681 90 chr8:27315902:G:A 2904_2780_927_S->N 0.000199681 90 na12878 Variants: 90 chr8:27308585:A:C 2904_2387_796_K->T 90 snyder Variants: 90 chr8:27308585:A:C 2904_2387_796_K->T 91 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000544172 gene_Name: FAK2_HUMAN 91 list of pdbs: 91 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 91 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 91 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 91 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 91 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 91 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 91 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 91 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 91 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 91 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 91 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 91 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 91 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 91 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 91 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 91 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 91 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 91 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 91 Zimmer Variants: 91 chr8:27308585:A:C 3030_2513_838_K->T 91 HGMD Variants: 91 chr8:27288396:A:G 3030_673_225_K->E 91 chr8:27293308:G:T 3030_1241_414_G->V 91 chr8:27310673:C:T 3030_2591_864_A->V 91 oneKG Variants: 91 chr8:27255130:G:A 3030_29_10_R->Q 0.000599042 91 chr8:27255154:G:A 3030_53_18_R->Q 0.000399361 91 chr8:27255295:C:T 3030_194_65_T->M 0.000599042 91 chr8:27277425:C:A 3030_218_73_S->Y 0.000199681 91 chr8:27277439:G:A 3030_232_78_G->R 0.000199681 91 chr8:27277476:A:G 3030_269_90_Y->C 0.000199681 91 chr8:27277505:G:A 3030_298_100_D->N 0.000399361 91 chr8:27277553:G:T 3030_346_116_D->Y 0.000199681 91 chr8:27278218:G:A 3030_428_143_S->N 0.000199681 91 chr8:27278254:A:G 3030_464_155_Y->C 0.000199681 91 chr8:27287926:G:T 3030_660_220_E->D 0.000199681 91 chr8:27288442:C:T 3030_719_240_S->L 0.000199681 91 chr8:27288499:A:G 3030_776_259_N->S 0.000199681 91 chr8:27288501:A:G 3030_778_260_I->V 0.000998403 91 chr8:27288514:C:A 3030_791_264_T->N 0.00319489 91 chr8:27289838:G:A 3030_947_316_G->D 0.000199681 91 chr8:27289840:C:G 3030_949_317_Q->E 0.000199681 91 chr8:27291039:C:G 3030_1075_359_Q->E 0.000998403 91 chr8:27292044:G:A 3030_1160_387_R->Q 0.000199681 91 chr8:27292047:G:A 3030_1163_388_R->Q 0.00279553 91 chr8:27292053:A:T 3030_1169_390_H->L 0.000199681 91 chr8:27293284:C:A 3030_1217_406_P->H 0.000199681 91 chr8:27293299:G:A 3030_1232_411_R->Q 0.000199681 91 chr8:27293308:G:A,T 3030_1241_414_G->E 0.000399361 91 chr8:27293308:G:A,T 3030_1241_414_G->V 0.000399361 91 chr8:27293794:G:T 3030_1270_424_D->Y 0.000399361 91 chr8:27293809:C:T 3030_1285_429_R->C 0.000399361 91 chr8:27293810:G:A 3030_1286_429_R->H 0.000199681 91 chr8:27294684:T:C 3030_1387_463_C->R 0.000199681 91 chr8:27294715:G:A 3030_1418_473_S->N 0.000199681 91 chr8:27294930:G:A 3030_1444_482_D->N 0.000199681 91 chr8:27295333:G:A 3030_1579_527_V->M 0.000399361 91 chr8:27295390:G:A 3030_1636_546_V->M 0.000199681 91 chr8:27296610:G:T 3030_1706_569_G->V 0.000199681 91 chr8:27296832:T:C 3030_1751_584_V->A 0.000199681 91 chr8:27297819:G:A 3030_1900_634_V->I 0.000199681 91 chr8:27297886:C:A 3030_1967_656_T->N 0.000199681 91 chr8:27297898:G:A 3030_1979_660_R->H 0.000199681 91 chr8:27297912:G:A 3030_1993_665_D->N 0.000199681 91 chr8:27300396:G:A 3030_2044_682_V->I 0.000399361 91 chr8:27300399:T:C 3030_2047_683_Y->H 0.000399361 91 chr8:27300416:C:A 3030_2064_688_D->E 0.000199681 91 chr8:27300445:G:A 3030_2093_698_R->H 0.000399361 91 chr8:27300465:T:A 3030_2113_705_L->M 0.000199681 91 chr8:27301751:C:T 3030_2177_726_P->L 0.000399361 91 chr8:27303321:G:T 3030_2225_742_G->V 0.000798722 91 chr8:27303374:G:A 3030_2278_760_V->I 0.000399361 91 chr8:27303418:C:G 3030_2322_774_F->L 0.000199681 91 chr8:27303423:G:A 3030_2327_776_R->H 0.000199681 91 chr8:27303425:C:T 3030_2329_777_H->Y 0.000199681 91 chr8:27308585:A:C 3030_2513_838_K->T 0.364617 91 chr8:27309014:G:A 3030_2536_846_E->K 0.000199681 91 chr8:27310673:C:T 3030_2591_864_A->V 0.000199681 91 chr8:27311723:A:G 3030_2648_883_N->S 0.000199681 91 chr8:27311785:G:A 3030_2710_904_E->K 0.000199681 91 chr8:27315902:G:A 3030_2906_969_S->N 0.000199681 91 na12878 Variants: 91 chr8:27308585:A:C 3030_2513_838_K->T 91 snyder Variants: 91 chr8:27308585:A:C 3030_2513_838_K->T 92 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000346049 gene_Name: FAK2_HUMAN 92 list of pdbs: 92 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 92 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 92 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 92 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 92 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 92 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 92 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 92 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 92 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 92 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 92 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 92 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 92 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 92 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 92 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 92 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 92 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 92 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 92 Zimmer Variants: 92 chr8:27308585:A:C 3030_2513_838_K->T 92 HGMD Variants: 92 chr8:27288396:A:G 3030_673_225_K->E 92 chr8:27293308:G:T 3030_1241_414_G->V 92 chr8:27310673:C:T 3030_2591_864_A->V 92 oneKG Variants: 92 chr8:27255130:G:A 3030_29_10_R->Q 0.000599042 92 chr8:27255154:G:A 3030_53_18_R->Q 0.000399361 92 chr8:27255295:C:T 3030_194_65_T->M 0.000599042 92 chr8:27277425:C:A 3030_218_73_S->Y 0.000199681 92 chr8:27277439:G:A 3030_232_78_G->R 0.000199681 92 chr8:27277476:A:G 3030_269_90_Y->C 0.000199681 92 chr8:27277505:G:A 3030_298_100_D->N 0.000399361 92 chr8:27277553:G:T 3030_346_116_D->Y 0.000199681 92 chr8:27278218:G:A 3030_428_143_S->N 0.000199681 92 chr8:27278254:A:G 3030_464_155_Y->C 0.000199681 92 chr8:27287926:G:T 3030_660_220_E->D 0.000199681 92 chr8:27288442:C:T 3030_719_240_S->L 0.000199681 92 chr8:27288499:A:G 3030_776_259_N->S 0.000199681 92 chr8:27288501:A:G 3030_778_260_I->V 0.000998403 92 chr8:27288514:C:A 3030_791_264_T->N 0.00319489 92 chr8:27289838:G:A 3030_947_316_G->D 0.000199681 92 chr8:27289840:C:G 3030_949_317_Q->E 0.000199681 92 chr8:27291039:C:G 3030_1075_359_Q->E 0.000998403 92 chr8:27292044:G:A 3030_1160_387_R->Q 0.000199681 92 chr8:27292047:G:A 3030_1163_388_R->Q 0.00279553 92 chr8:27292053:A:T 3030_1169_390_H->L 0.000199681 92 chr8:27293284:C:A 3030_1217_406_P->H 0.000199681 92 chr8:27293299:G:A 3030_1232_411_R->Q 0.000199681 92 chr8:27293308:G:A,T 3030_1241_414_G->E 0.000399361 92 chr8:27293308:G:A,T 3030_1241_414_G->V 0.000399361 92 chr8:27293794:G:T 3030_1270_424_D->Y 0.000399361 92 chr8:27293809:C:T 3030_1285_429_R->C 0.000399361 92 chr8:27293810:G:A 3030_1286_429_R->H 0.000199681 92 chr8:27294684:T:C 3030_1387_463_C->R 0.000199681 92 chr8:27294715:G:A 3030_1418_473_S->N 0.000199681 92 chr8:27294930:G:A 3030_1444_482_D->N 0.000199681 92 chr8:27295333:G:A 3030_1579_527_V->M 0.000399361 92 chr8:27295390:G:A 3030_1636_546_V->M 0.000199681 92 chr8:27296610:G:T 3030_1706_569_G->V 0.000199681 92 chr8:27296832:T:C 3030_1751_584_V->A 0.000199681 92 chr8:27297819:G:A 3030_1900_634_V->I 0.000199681 92 chr8:27297886:C:A 3030_1967_656_T->N 0.000199681 92 chr8:27297898:G:A 3030_1979_660_R->H 0.000199681 92 chr8:27297912:G:A 3030_1993_665_D->N 0.000199681 92 chr8:27300396:G:A 3030_2044_682_V->I 0.000399361 92 chr8:27300399:T:C 3030_2047_683_Y->H 0.000399361 92 chr8:27300416:C:A 3030_2064_688_D->E 0.000199681 92 chr8:27300445:G:A 3030_2093_698_R->H 0.000399361 92 chr8:27300465:T:A 3030_2113_705_L->M 0.000199681 92 chr8:27301751:C:T 3030_2177_726_P->L 0.000399361 92 chr8:27303321:G:T 3030_2225_742_G->V 0.000798722 92 chr8:27303374:G:A 3030_2278_760_V->I 0.000399361 92 chr8:27303418:C:G 3030_2322_774_F->L 0.000199681 92 chr8:27303423:G:A 3030_2327_776_R->H 0.000199681 92 chr8:27303425:C:T 3030_2329_777_H->Y 0.000199681 92 chr8:27308585:A:C 3030_2513_838_K->T 0.364617 92 chr8:27309014:G:A 3030_2536_846_E->K 0.000199681 92 chr8:27310673:C:T 3030_2591_864_A->V 0.000199681 92 chr8:27311723:A:G 3030_2648_883_N->S 0.000199681 92 chr8:27311785:G:A 3030_2710_904_E->K 0.000199681 92 chr8:27315902:G:A 3030_2906_969_S->N 0.000199681 92 na12878 Variants: 92 chr8:27308585:A:C 3030_2513_838_K->T 92 snyder Variants: 92 chr8:27308585:A:C 3030_2513_838_K->T 93 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000420218 gene_Name: FAK2_HUMAN 93 list of pdbs: 93 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 93 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 93 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 93 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 93 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 93 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 93 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 93 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 93 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 93 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 93 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 93 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 93 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 93 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 93 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 93 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 93 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 93 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 93 Zimmer Variants: 93 chr8:27308585:A:C 2904_2387_796_K->T 93 HGMD Variants: 93 chr8:27288396:A:G 2904_673_225_K->E 93 chr8:27293308:G:T 2904_1241_414_G->V 93 chr8:27310673:C:T 2904_2465_822_A->V 93 oneKG Variants: 93 chr8:27255130:G:A 2904_29_10_R->Q 0.000599042 93 chr8:27255154:G:A 2904_53_18_R->Q 0.000399361 93 chr8:27255295:C:T 2904_194_65_T->M 0.000599042 93 chr8:27277425:C:A 2904_218_73_S->Y 0.000199681 93 chr8:27277439:G:A 2904_232_78_G->R 0.000199681 93 chr8:27277476:A:G 2904_269_90_Y->C 0.000199681 93 chr8:27277505:G:A 2904_298_100_D->N 0.000399361 93 chr8:27277553:G:T 2904_346_116_D->Y 0.000199681 93 chr8:27278218:G:A 2904_428_143_S->N 0.000199681 93 chr8:27278254:A:G 2904_464_155_Y->C 0.000199681 93 chr8:27287926:G:T 2904_660_220_E->D 0.000199681 93 chr8:27288442:C:T 2904_719_240_S->L 0.000199681 93 chr8:27288499:A:G 2904_776_259_N->S 0.000199681 93 chr8:27288501:A:G 2904_778_260_I->V 0.000998403 93 chr8:27288514:C:A 2904_791_264_T->N 0.00319489 93 chr8:27289838:G:A 2904_947_316_G->D 0.000199681 93 chr8:27289840:C:G 2904_949_317_Q->E 0.000199681 93 chr8:27291039:C:G 2904_1075_359_Q->E 0.000998403 93 chr8:27292044:G:A 2904_1160_387_R->Q 0.000199681 93 chr8:27292047:G:A 2904_1163_388_R->Q 0.00279553 93 chr8:27292053:A:T 2904_1169_390_H->L 0.000199681 93 chr8:27293284:C:A 2904_1217_406_P->H 0.000199681 93 chr8:27293299:G:A 2904_1232_411_R->Q 0.000199681 93 chr8:27293308:G:A,T 2904_1241_414_G->E 0.000399361 93 chr8:27293308:G:A,T 2904_1241_414_G->V 0.000399361 93 chr8:27293794:G:T 2904_1270_424_D->Y 0.000399361 93 chr8:27293809:C:T 2904_1285_429_R->C 0.000399361 93 chr8:27293810:G:A 2904_1286_429_R->H 0.000199681 93 chr8:27294684:T:C 2904_1387_463_C->R 0.000199681 93 chr8:27294715:G:A 2904_1418_473_S->N 0.000199681 93 chr8:27294930:G:A 2904_1444_482_D->N 0.000199681 93 chr8:27295333:G:A 2904_1579_527_V->M 0.000399361 93 chr8:27295390:G:A 2904_1636_546_V->M 0.000199681 93 chr8:27296610:G:T 2904_1706_569_G->V 0.000199681 93 chr8:27296832:T:C 2904_1751_584_V->A 0.000199681 93 chr8:27297819:G:A 2904_1900_634_V->I 0.000199681 93 chr8:27297886:C:A 2904_1967_656_T->N 0.000199681 93 chr8:27297898:G:A 2904_1979_660_R->H 0.000199681 93 chr8:27297912:G:A 2904_1993_665_D->N 0.000199681 93 chr8:27300396:G:A 2904_2044_682_V->I 0.000399361 93 chr8:27300399:T:C 2904_2047_683_Y->H 0.000399361 93 chr8:27300416:C:A 2904_2064_688_D->E 0.000199681 93 chr8:27300445:G:A 2904_2093_698_R->H 0.000399361 93 chr8:27300465:T:A 2904_2113_705_L->M 0.000199681 93 chr8:27301751:C:T 2904_2177_726_P->L 0.000399361 93 chr8:27308585:A:C 2904_2387_796_K->T 0.364617 93 chr8:27309014:G:A 2904_2410_804_E->K 0.000199681 93 chr8:27310673:C:T 2904_2465_822_A->V 0.000199681 93 chr8:27311723:A:G 2904_2522_841_N->S 0.000199681 93 chr8:27311785:G:A 2904_2584_862_E->K 0.000199681 93 chr8:27315902:G:A 2904_2780_927_S->N 0.000199681 93 na12878 Variants: 93 chr8:27308585:A:C 2904_2387_796_K->T 93 snyder Variants: 93 chr8:27308585:A:C 2904_2387_796_K->T 94 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120899_ENST00000517339 gene_Name: FAK2_HUMAN 94 list of pdbs: 94 4H1M pdb_description: 28-Nov-12 X-ray 1.990 Crystal structure of pyk2 with the indole 10c 94 4H1J pdb_description: 28-Nov-12 X-ray 2.000 Crystal structure of pyk2 with the pyrazole 13a 94 4EKU pdb_description: 25-Apr-12 X-ray 3.250 Crystal structure of ferm domain of proline-rich tyrosine ki 94 3U3F pdb_description: 24-Oct-12 X-ray 3.100 Structural basis for the interaction of pyk2 pat domain with ld motifs 94 3U3C pdb_description: 24-Oct-12 X-ray 3.700 Structural basis for the interaction of pyk2 pat domain with ld motifs 94 3H3C pdb_description: 26-May-09 X-ray 2.000 Crystal structure of pyk2 in complex with sulfoximine- substituted trifluoromethylpyrimidine analog 94 3GM3 pdb_description: 05-May-09 X-ray 2.600 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 94 3GM2 pdb_description: 05-May-09 X-ray 2.710 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 94 3GM1 pdb_description: 05-May-09 X-ray 2.950 Crystal structure of the focal adhesion targeting (fat) domain of pyk2 in complex with paxillin ld4 motif-derived peptides 94 3FZT pdb_description: 31-Mar-09 X-ray 1.950 Crystal structure of pyk2 complexed with pf-4618433 94 3FZS pdb_description: 31-Mar-09 X-ray 1.750 Crystal structure of pyk2 complexed with birb796 94 3FZR pdb_description: 31-Mar-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-431396 94 3FZP pdb_description: 31-Mar-09 X-ray 2.100 Crystal structure of pyk2 complexed with atpgs 94 3FZO pdb_description: 31-Mar-09 X-ray 2.200 Crystal structure of pyk2-apo, proline-rich tyrosine kinase 94 3ET7 pdb_description: 23-Jun-09 X-ray 2.700 Crystal structure of pyk2 complexed with pf-2318841 94 3CC6 pdb_description: 11-Mar-08 X-ray 1.600 Crystal structure of kinase domain of protein tyrosine kinas (ptk2b) 94 2LK4 pdb_description: 10-Oct-12 NMR 20 Structural and mechanistic insights into the interaction bet pyk2 and paxillin ld motif 94 2FO6 pdb_description: 18-Apr-06 Theoret model 3d model of a truncated human pyk2 ferm domain 94 Zimmer Variants: 94 chr8:27308585:A:C 2904_2387_796_K->T 94 HGMD Variants: 94 chr8:27288396:A:G 2904_673_225_K->E 94 chr8:27293308:G:T 2904_1241_414_G->V 94 chr8:27310673:C:T 2904_2465_822_A->V 94 oneKG Variants: 94 chr8:27255130:G:A 2904_29_10_R->Q 0.000599042 94 chr8:27255154:G:A 2904_53_18_R->Q 0.000399361 94 chr8:27255295:C:T 2904_194_65_T->M 0.000599042 94 chr8:27277425:C:A 2904_218_73_S->Y 0.000199681 94 chr8:27277439:G:A 2904_232_78_G->R 0.000199681 94 chr8:27277476:A:G 2904_269_90_Y->C 0.000199681 94 chr8:27277505:G:A 2904_298_100_D->N 0.000399361 94 chr8:27277553:G:T 2904_346_116_D->Y 0.000199681 94 chr8:27278218:G:A 2904_428_143_S->N 0.000199681 94 chr8:27278254:A:G 2904_464_155_Y->C 0.000199681 94 chr8:27287926:G:T 2904_660_220_E->D 0.000199681 94 chr8:27288442:C:T 2904_719_240_S->L 0.000199681 94 chr8:27288499:A:G 2904_776_259_N->S 0.000199681 94 chr8:27288501:A:G 2904_778_260_I->V 0.000998403 94 chr8:27288514:C:A 2904_791_264_T->N 0.00319489 94 chr8:27289838:G:A 2904_947_316_G->D 0.000199681 94 chr8:27289840:C:G 2904_949_317_Q->E 0.000199681 94 chr8:27291039:C:G 2904_1075_359_Q->E 0.000998403 94 chr8:27292044:G:A 2904_1160_387_R->Q 0.000199681 94 chr8:27292047:G:A 2904_1163_388_R->Q 0.00279553 94 chr8:27292053:A:T 2904_1169_390_H->L 0.000199681 94 chr8:27293284:C:A 2904_1217_406_P->H 0.000199681 94 chr8:27293299:G:A 2904_1232_411_R->Q 0.000199681 94 chr8:27293308:G:A,T 2904_1241_414_G->E 0.000399361 94 chr8:27293308:G:A,T 2904_1241_414_G->V 0.000399361 94 chr8:27293794:G:T 2904_1270_424_D->Y 0.000399361 94 chr8:27293809:C:T 2904_1285_429_R->C 0.000399361 94 chr8:27293810:G:A 2904_1286_429_R->H 0.000199681 94 chr8:27294684:T:C 2904_1387_463_C->R 0.000199681 94 chr8:27294715:G:A 2904_1418_473_S->N 0.000199681 94 chr8:27294930:G:A 2904_1444_482_D->N 0.000199681 94 chr8:27295333:G:A 2904_1579_527_V->M 0.000399361 94 chr8:27295390:G:A 2904_1636_546_V->M 0.000199681 94 chr8:27296610:G:T 2904_1706_569_G->V 0.000199681 94 chr8:27296832:T:C 2904_1751_584_V->A 0.000199681 94 chr8:27297819:G:A 2904_1900_634_V->I 0.000199681 94 chr8:27297886:C:A 2904_1967_656_T->N 0.000199681 94 chr8:27297898:G:A 2904_1979_660_R->H 0.000199681 94 chr8:27297912:G:A 2904_1993_665_D->N 0.000199681 94 chr8:27300396:G:A 2904_2044_682_V->I 0.000399361 94 chr8:27300399:T:C 2904_2047_683_Y->H 0.000399361 94 chr8:27300416:C:A 2904_2064_688_D->E 0.000199681 94 chr8:27300445:G:A 2904_2093_698_R->H 0.000399361 94 chr8:27300465:T:A 2904_2113_705_L->M 0.000199681 94 chr8:27301751:C:T 2904_2177_726_P->L 0.000399361 94 chr8:27308585:A:C 2904_2387_796_K->T 0.364617 94 chr8:27309014:G:A 2904_2410_804_E->K 0.000199681 94 chr8:27310673:C:T 2904_2465_822_A->V 0.000199681 94 chr8:27311723:A:G 2904_2522_841_N->S 0.000199681 94 chr8:27311785:G:A 2904_2584_862_E->K 0.000199681 94 chr8:27315902:G:A 2904_2780_927_S->N 0.000199681 94 na12878 Variants: 94 chr8:27308585:A:C 2904_2387_796_K->T 94 snyder Variants: 94 chr8:27308585:A:C 2904_2387_796_K->T 95 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000177239_ENST00000371589 gene_Name: MA1B1_HUMAN 95 list of pdbs: 95 1X9D pdb_description: 22-Feb-05 X-ray 1.410 Crystal structure of human class i alpha-1,2-mannosidase in complex with thio-disaccharide substrate analogue 95 1FO3 pdb_description: 17-Jan-01 X-ray 1.750 Crystal structure of human class i alpha1,2-mannosidase in complex with kifunensine 95 1FO2 pdb_description: 17-Jan-01 X-ray 2.380 Crystal structure of human class i alpha1,2-mannosidase in complex with 1-deoxymannojirimycin 95 1FMI pdb_description: 17-Jan-01 X-ray 1.900 Crystal structure of human class i alpha1,2-mannosidase 95 Zimmer Variants: 95 chr9:139981627:A:G 2100_176_59_N->S;HUB=REG;GNEG=Yes;GENE=MAN1B1;CDSS=4 95 HGMD Variants: 95 chr9:139981623:G:T 2100_172_58_E->* 95 chr9:139982531:G:A 2100_224_75_W->* 95 chr9:140000740:G:A 2100_1418_473_W->* 95 chr9:140002067:C:T 2100_1849_617_Q->* 95 chr9:140002081:G:A 2100_1863_621_W->* 95 chr9:140003008:G:T 2100_2065_689_E->* 95 chr9:139995540:C:T 2100_1000_334_R->C 95 chr9:139995541:G:C 2100_1001_334_R->P 95 chr9:139996059:G:A 2100_1189_397_E->K 95 chr9:139996095:T:C 2100_1225_409_S->P 95 chr9:140002007:C:T 2100_1789_597_R->W 95 chr9:140002919:T:G 2100_1976_659_F->C 95 chr9:140003008:G:A 2100_2065_689_E->K 95 oneKG Variants: 95 chr9:139981458:G:T 2100_7_3_A->S 0.000399361 95 chr9:139981627:A:G 2100_176_59_N->S 0.094649 95 chr9:139981656:C:T 2100_205_69_R->C 0.000199681 95 chr9:139981664:C:G 2100_213_71_C->W 0.000199681 95 chr9:139982575:C:T 2100_268_90_L->F 0.000199681 95 chr9:139982579:C:T 2100_272_91_A->V 0.000798722 95 chr9:139982611:A:C 2100_304_102_I->L 0.000798722 95 chr9:139982633:A:G 2100_326_109_K->R 0.000199681 95 chr9:139983329:T:C 2100_337_113_F->L 0.000798722 95 chr9:139983330:T:C 2100_338_113_F->S 0.000199681 95 chr9:139983339:A:G 2100_347_116_E->G 0.00978435 95 chr9:139983395:G:A 2100_403_135_V->I 0.00139776 95 chr9:139983441:C:G 2100_449_150_P->R 0.000399361 95 chr9:139983445:G:C 2100_453_151_E->D 0.000399361 95 chr9:139990737:C:T 2100_514_172_P->S 0.000199681 95 chr9:139990784:A:C 2100_561_187_K->N 0.000199681 95 chr9:139990809:C:T 2100_586_196_R->C 0.000199681 95 chr9:139990810:G:A 2100_587_196_R->H 0.000199681 95 chr9:139990813:C:T 2100_590_197_P->L 0.0227636 95 chr9:139990825:C:T 2100_602_201_P->L 0.00978435 95 chr9:139992294:T:G 2100_635_212_V->G 0.00239617 95 chr9:139992333:G:T 2100_674_225_R->I 0.000199681 95 chr9:139992348:C:T 2100_689_230_T->I 0.000399361 95 chr9:139992366:C:T 2100_707_236_P->L 0.00119808 95 chr9:139994163:G:A 2100_746_249_R->H 0.000199681 95 chr9:139994210:C:T 2100_793_265_R->C 0.000199681 95 chr9:139994211:G:A 2100_794_265_R->H 0.00459265 95 chr9:139994279:G:A 2100_862_288_G->S 0.000798722 95 chr9:139995540:C:T 2100_1000_334_R->C 0.000399361 95 chr9:139995582:G:T 2100_1042_348_D->Y 0.000199681 95 chr9:139996099:G:A 2100_1229_410_R->H 0.00698882 95 chr9:140000610:G:A 2100_1288_430_G->S 0.000199681 95 chr9:140000685:G:A 2100_1363_455_V->I 0.000199681 95 chr9:140000751:G:A 2100_1429_477_G->R 0.00838658 95 chr9:140000755:A:G 2100_1433_478_K->R 0.000599042 95 chr9:140001157:G:A 2100_1462_488_V->M 0.000199681 95 chr9:140001175:G:A 2100_1480_494_V->I 0.000199681 95 chr9:140001182:C:T 2100_1487_496_T->M 0.000399361 95 chr9:140001194:G:A 2100_1499_500_R->Q 0.00319489 95 chr9:140001197:A:G 2100_1502_501_H->R 0.000399361 95 chr9:140001244:C:T 2100_1549_517_R->C 0.000199681 95 chr9:140001771:A:G 2100_1636_546_M->V 0.000199681 95 chr9:140001871:A:G 2100_1736_579_Q->R 0.000199681 95 chr9:140001873:C:G 2100_1738_580_P->A 0.000199681 95 chr9:140001879:C:T 2100_1744_582_R->C 0.000199681 95 chr9:140001880:G:A 2100_1745_582_R->H 0.000199681 95 chr9:140001883:G:A 2100_1748_583_R->Q 0.000199681 95 chr9:140001888:G:A 2100_1753_585_V->M 0.000599042 95 chr9:140002104:G:A 2100_1886_629_R->Q 0.000199681 95 chr9:140002856:A:G 2100_1913_638_Y->C 0.000199681 95 chr9:140002864:A:G 2100_1921_641_I->V 0.000199681 95 chr9:140002894:G:A 2100_1951_651_E->K 0.000798722 95 chr9:140002934:C:T 2100_1991_664_T->M 0.000998403 95 chr9:140002936:C:T 2100_1993_665_L->F 0.000199681 95 chr9:140002963:G:A 2100_2020_674_D->N 0.00279553 95 chr9:140002982:G:C 2100_2039_680_S->T 0.000399361 95 chr9:140003023:C:G 2100_2080_694_P->A 0.000199681 95 na12878 Variants: 95 chr9:139981627:A:G 2100_176_59_N->S 95 snyder Variants: 95 chr9:139981627:A:G 2100_176_59_N->S 96 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137992_ENST00000370132 gene_Name: ODB2_HUMAN 96 list of pdbs: 96 2COO pdb_description: 18-Nov-05 NMR 20 Solution structure of the e3_binding domain of dihydrolipoamide branched chaintransacylase 96 1ZWV pdb_description: 21-Jun-05 NMR 20 Solution structure of the subunit binding domain (hbsbd) of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase 96 1K8O pdb_description: 14-Nov-01 NMR 20 Solution structure of the lipoic acid-bearing domain of the e2 component of human, mitochondrial branched-chain alpha- ketoacid dehydrogenase 96 1K8M pdb_description: 14-Nov-01 NMR 1 Solution structure of the lipoic acid-bearing domain of the e2 component of human, mitochondrial branched-chain alpha- ketoacid dehydrogenase 96 3RNM pdb_description: 04-May-11 X-ray 2.400 The crystal structure of the subunit binding of human dihydr transacylase (e2b) bound to human dihydrolipoamide dehydrog 96 Zimmer Variants: 96 chr1:100672060:T:C 1449_1150_384_S->G;GNEG=Yes;GENE=DBT;CDSS=3 96 HGMD Variants: 96 chr1:100680441:G:A 1449_871_291_R->* 96 chr1:100681586:G:C 1449_725_242_S->* 96 chr1:100681641:C:A 1449_670_224_E->* 96 chr1:100681730:G:C 1449_581_194_S->* 96 chr1:100701059:C:A 1449_184_62_G->* 96 chr1:100661830:A:C 1449_1430_477_M->R 96 chr1:100661875:C:G 1449_1385_462_R->P 96 chr1:100661905:T:C 1449_1355_452_H->R 96 chr1:100661911:G:T 1449_1349_450_A->D 96 chr1:100661924:C:T 1449_1336_446_V->M 96 chr1:100661974:A:T 1449_1286_429_I->N 96 chr1:100671835:G:T 1449_1232_411_P->Q 96 chr1:100672008:A:G 1449_1202_401_I->T 96 chr1:100672017:A:G 1449_1193_398_L->P 96 chr1:100672041:T:C 1449_1169_390_D->G 96 chr1:100672060:T:C 1449_1150_384_S->G 96 chr1:100672084:G:A 1449_1126_376_R->C 96 chr1:100672186:G:T 1449_1024_342_H->N 96 chr1:100680373:C:G 1449_939_313_K->N 96 chr1:100680392:A:G 1449_920_307_F->S 96 chr1:100680411:G:A 1449_901_301_R->C 96 chr1:100680485:A:C 1449_827_276_F->C 96 chr1:100680524:A:C 1449_788_263_M->R 96 chr1:100680524:A:G 1449_788_263_M->T 96 chr1:100696309:A:G 1449_413_138_I->T 96 chr1:100696328:C:T 1449_394_132_G->R 96 chr1:100696428:G:C 1449_294_98_I->M 96 chr1:100696470:C:A 1449_252_84_W->C 96 chr1:100701019:C:T 1449_224_75_G->E 96 chr1:100701053:C:T 1449_190_64_V->I 96 oneKG Variants: 96 chr1:100681641:C:A 1449_670_224_E->* 0.00119808 96 chr1:100661842:T:C 1449_1418_473_N->S 0.000199681 96 chr1:100661929:A:G 1449_1331_444_M->T 0.000199681 96 chr1:100661961:G:C 1449_1299_433_N->K 0.000199681 96 chr1:100672060:T:C 1449_1150_384_S->G 0.108227 96 chr1:100672105:C:A 1449_1105_369_D->Y 0.000199681 96 chr1:100672153:C:T 1449_1057_353_G->S 0.000199681 96 chr1:100672159:C:G 1449_1051_351_E->Q 0.000399361 96 chr1:100676303:A:G 1449_964_322_F->L 0.000599042 96 chr1:100681560:C:A 1449_751_251_D->Y 0.000199681 96 chr1:100681578:G:T 1449_733_245_P->T 0.000199681 96 chr1:100681587:A:G 1449_724_242_S->P 0.00339457 96 chr1:100681596:T:C 1449_715_239_I->V 0.0359425 96 chr1:100684217:T:C 1449_520_174_T->A 0.0 96 chr1:100684231:C:T 1449_506_169_R->Q 0.0061901 96 chr1:100696333:T:C 1449_389_130_Y->C 0.000199681 96 chr1:100696358:A:G 1449_364_122_Y->H 0.000798722 96 chr1:100701028:A:G 1449_215_72_I->T 0.000199681 96 chr1:100701062:G:T 1449_181_61_R->S 0.000199681 96 chr1:100706371:C:G 1449_121_41_G->R 0.000199681 96 chr1:100706416:A:G 1449_76_26_C->R 0.00499201 96 chr1:100706430:C:T 1449_62_21_R->H 0.000199681 96 chr1:100715340:T:C 1449_37_13_N->D 0.00179712 96 na12878 Variants: 96 chr1:100672060:T:C 1449_1150_384_S->G 96 snyder Variants: 96 chr1:100672060:T:C 1449_1150_384_S->G 97 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198758_ENST00000361852 gene_Name: ES8L3_HUMAN 97 list of pdbs: 97 1WXT pdb_description: 01-Aug-05 NMR 20 Solution structure of the sh3 domain of human hypothetical protein flj21522 97 Zimmer Variants: 97 chr1:110294385:C:T 1692_1364_455_R->Q 97 chr1:110300441:G:A 1692_877_293_H->Y 97 HGMD Variants: 97 chr1:110304350:C:T 1692_22_8_A->T 97 oneKG Variants: 97 chr1:110293302:C:A 1692_1660_554_A->S 0.000199681 97 chr1:110293310:C:T 1692_1652_551_R->Q 0.0646965 97 chr1:110293311:G:A 1692_1651_551_R->W 0.000199681 97 chr1:110293322:C:T 1692_1640_547_R->Q 0.000199681 97 chr1:110293334:T:A 1692_1628_543_Q->L 0.000199681 97 chr1:110293386:C:T 1692_1576_526_G->R 0.000798722 97 chr1:110293388:G:A 1692_1574_525_T->M 0.00119808 97 chr1:110293943:C:T 1692_1504_502_E->K 0.000798722 97 chr1:110294278:G:A 1692_1471_491_R->W 0.000199681 97 chr1:110294355:C:T 1692_1394_465_R->Q 0.000599042 97 chr1:110294356:G:A 1692_1393_465_R->W 0.000399361 97 chr1:110295774:A:C 1692_1165_389_S->A 0.000199681 97 chr1:110295816:C:T 1692_1123_375_D->N 0.000199681 97 chr1:110299666:C:G 1692_1091_364_G->A 0.000199681 97 chr1:110299677:G:T 1692_1080_360_N->K 0.000199681 97 chr1:110299684:T:G 1692_1073_358_E->A 0.000199681 97 chr1:110299691:G:A 1692_1066_356_P->S 0.157149 97 chr1:110299742:A:T 1692_1015_339_S->T 0.000199681 97 chr1:110299757:C:T 1692_1000_334_A->T 0.00319489 97 chr1:110300123:G:A 1692_949_317_L->F 0.000199681 97 chr1:110300441:G:A 1692_877_293_H->Y 0.473243 97 chr1:110300575:C:G 1692_823_275_D->H 0.000199681 97 chr1:110301023:C:T 1692_632_211_R->H 0.00219649 97 chr1:110301182:G:A 1692_565_189_P->S 0.000199681 97 chr1:110301190:G:A 1692_557_186_P->L 0.000199681 97 chr1:110301194:C:G 1692_553_185_E->Q 0.000199681 97 chr1:110301223:G:A 1692_524_175_P->L 0.000399361 97 chr1:110301225:C:A 1692_522_174_R->S 0.000199681 97 chr1:110301254:C:T 1692_493_165_D->N 0.00219649 97 chr1:110301260:C:T 1692_487_163_G->S 0.316494 97 chr1:110301694:G:C 1692_451_151_L->V 0.000199681 97 chr1:110301709:C:T 1692_436_146_A->T 0.00239617 97 chr1:110301732:C:T 1692_413_138_R->Q 0.000199681 97 chr1:110301919:C:T 1692_346_116_V->M 0.00139776 97 chr1:110301949:A:G 1692_316_106_C->R 0.000199681 97 chr1:110301983:G:C 1692_282_94_D->E 0.00279553 97 chr1:110301991:G:A 1692_274_92_R->C 0.000798722 97 chr1:110302370:C:T 1692_185_62_R->Q 0.000199681 97 chr1:110302392:A:T 1692_163_55_F->I 0.00119808 97 chr1:110302403:A:G 1692_152_51_L->S 0.000998403 97 chr1:110302450:C:T 1692_105_35_M->I 0.0111821 97 chr1:110304142:G:A 1692_71_24_P->L 0.000399361 97 chr1:110304179:G:A 1692_34_12_H->Y 0.000199681 97 chr1:110304344:A:G 1692_28_10_Y->H 0.000199681 97 chr1:110304347:T:C 1692_25_9_I->V 0.000199681 97 chr1:110304359:T:C 1692_13_5_S->G 0.00119808 97 na12878 Variants: 97 chr1:110300441:G:A 1692_877_293_H->Y 97 snyder Variants: 97 chr1:110300441:G:A 1692_877_293_H->Y 98 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198758_ENST00000369805 gene_Name: ES8L3_HUMAN 98 list of pdbs: 98 1WXT pdb_description: 01-Aug-05 NMR 20 Solution structure of the sh3 domain of human hypothetical protein flj21522 98 Zimmer Variants: 98 chr1:110294385:C:T 1785_1457_486_R->Q;GNEG=Yes;GENE=EPS8L3;CDSS=3 98 chr1:110300441:G:A 1785_880_294_H->Y;GNEG=Yes;GENE=EPS8L3;CDSS=3 98 HGMD Variants: 98 chr1:110304350:C:T 1785_22_8_A->T 98 oneKG Variants: 98 chr1:110293302:C:A 1785_1753_585_A->S 0.000199681 98 chr1:110293310:C:T 1785_1745_582_R->Q 0.0646965 98 chr1:110293311:G:A 1785_1744_582_R->W 0.000199681 98 chr1:110293322:C:T 1785_1733_578_R->Q 0.000199681 98 chr1:110293334:T:A 1785_1721_574_Q->L 0.000199681 98 chr1:110293386:C:T 1785_1669_557_G->R 0.000798722 98 chr1:110293388:G:A 1785_1667_556_T->M 0.00119808 98 chr1:110293943:C:T 1785_1597_533_E->K 0.000798722 98 chr1:110294278:G:A 1785_1564_522_R->W 0.000199681 98 chr1:110294355:C:T 1785_1487_496_R->Q 0.000599042 98 chr1:110294356:G:A 1785_1486_496_R->W 0.000399361 98 chr1:110294813:C:T 1785_1241_414_R->Q 0.000399361 98 chr1:110295774:A:C 1785_1168_390_S->A 0.000199681 98 chr1:110295816:C:T 1785_1126_376_D->N 0.000199681 98 chr1:110299666:C:G 1785_1094_365_G->A 0.000199681 98 chr1:110299677:G:T 1785_1083_361_N->K 0.000199681 98 chr1:110299684:T:G 1785_1076_359_E->A 0.000199681 98 chr1:110299691:G:A 1785_1069_357_P->S 0.157149 98 chr1:110299742:A:T 1785_1018_340_S->T 0.000199681 98 chr1:110299757:C:T 1785_1003_335_A->T 0.00319489 98 chr1:110300123:G:A 1785_952_318_L->F 0.000199681 98 chr1:110300441:G:A 1785_880_294_H->Y 0.473243 98 chr1:110300575:C:G 1785_826_276_D->H 0.000199681 98 chr1:110301023:C:T 1785_635_212_R->H 0.00219649 98 chr1:110301182:G:A 1785_568_190_P->S 0.000199681 98 chr1:110301190:G:A 1785_560_187_P->L 0.000199681 98 chr1:110301194:C:G 1785_556_186_E->Q 0.000199681 98 chr1:110301223:G:A 1785_527_176_P->L 0.000399361 98 chr1:110301225:C:A 1785_525_175_R->S 0.000199681 98 chr1:110301254:C:T 1785_496_166_D->N 0.00219649 98 chr1:110301260:C:T 1785_490_164_G->S 0.316494 98 chr1:110301694:G:C 1785_451_151_L->V 0.000199681 98 chr1:110301709:C:T 1785_436_146_A->T 0.00239617 98 chr1:110301732:C:T 1785_413_138_R->Q 0.000199681 98 chr1:110301919:C:T 1785_346_116_V->M 0.00139776 98 chr1:110301949:A:G 1785_316_106_C->R 0.000199681 98 chr1:110301983:G:C 1785_282_94_D->E 0.00279553 98 chr1:110301991:G:A 1785_274_92_R->C 0.000798722 98 chr1:110302370:C:T 1785_185_62_R->Q 0.000199681 98 chr1:110302392:A:T 1785_163_55_F->I 0.00119808 98 chr1:110302403:A:G 1785_152_51_L->S 0.000998403 98 chr1:110302450:C:T 1785_105_35_M->I 0.0111821 98 chr1:110304142:G:A 1785_71_24_P->L 0.000399361 98 chr1:110304179:G:A 1785_34_12_H->Y 0.000199681 98 chr1:110304344:A:G 1785_28_10_Y->H 0.000199681 98 chr1:110304347:T:C 1785_25_9_I->V 0.000199681 98 chr1:110304359:T:C 1785_13_5_S->G 0.00119808 98 na12878 Variants: 98 chr1:110300441:G:A 1785_880_294_H->Y 98 snyder Variants: 98 chr1:110300441:G:A 1785_880_294_H->Y 99 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198758_ENST00000361965 gene_Name: ES8L3_HUMAN 99 list of pdbs: 99 1WXT pdb_description: 01-Aug-05 NMR 20 Solution structure of the sh3 domain of human hypothetical protein flj21522 99 Zimmer Variants: 99 chr1:110294385:C:T 1782_1454_485_R->Q 99 chr1:110300441:G:A 1782_877_293_H->Y 99 HGMD Variants: 99 chr1:110304350:C:T 1782_22_8_A->T 99 oneKG Variants: 99 chr1:110293302:C:A 1782_1750_584_A->S 0.000199681 99 chr1:110293310:C:T 1782_1742_581_R->Q 0.0646965 99 chr1:110293311:G:A 1782_1741_581_R->W 0.000199681 99 chr1:110293322:C:T 1782_1730_577_R->Q 0.000199681 99 chr1:110293334:T:A 1782_1718_573_Q->L 0.000199681 99 chr1:110293386:C:T 1782_1666_556_G->R 0.000798722 99 chr1:110293388:G:A 1782_1664_555_T->M 0.00119808 99 chr1:110293943:C:T 1782_1594_532_E->K 0.000798722 99 chr1:110294278:G:A 1782_1561_521_R->W 0.000199681 99 chr1:110294355:C:T 1782_1484_495_R->Q 0.000599042 99 chr1:110294356:G:A 1782_1483_495_R->W 0.000399361 99 chr1:110294813:C:T 1782_1238_413_R->Q 0.000399361 99 chr1:110295774:A:C 1782_1165_389_S->A 0.000199681 99 chr1:110295816:C:T 1782_1123_375_D->N 0.000199681 99 chr1:110299666:C:G 1782_1091_364_G->A 0.000199681 99 chr1:110299677:G:T 1782_1080_360_N->K 0.000199681 99 chr1:110299684:T:G 1782_1073_358_E->A 0.000199681 99 chr1:110299691:G:A 1782_1066_356_P->S 0.157149 99 chr1:110299742:A:T 1782_1015_339_S->T 0.000199681 99 chr1:110299757:C:T 1782_1000_334_A->T 0.00319489 99 chr1:110300123:G:A 1782_949_317_L->F 0.000199681 99 chr1:110300441:G:A 1782_877_293_H->Y 0.473243 99 chr1:110300575:C:G 1782_823_275_D->H 0.000199681 99 chr1:110301023:C:T 1782_632_211_R->H 0.00219649 99 chr1:110301182:G:A 1782_565_189_P->S 0.000199681 99 chr1:110301190:G:A 1782_557_186_P->L 0.000199681 99 chr1:110301194:C:G 1782_553_185_E->Q 0.000199681 99 chr1:110301223:G:A 1782_524_175_P->L 0.000399361 99 chr1:110301225:C:A 1782_522_174_R->S 0.000199681 99 chr1:110301254:C:T 1782_493_165_D->N 0.00219649 99 chr1:110301260:C:T 1782_487_163_G->S 0.316494 99 chr1:110301694:G:C 1782_451_151_L->V 0.000199681 99 chr1:110301709:C:T 1782_436_146_A->T 0.00239617 99 chr1:110301732:C:T 1782_413_138_R->Q 0.000199681 99 chr1:110301919:C:T 1782_346_116_V->M 0.00139776 99 chr1:110301949:A:G 1782_316_106_C->R 0.000199681 99 chr1:110301983:G:C 1782_282_94_D->E 0.00279553 99 chr1:110301991:G:A 1782_274_92_R->C 0.000798722 99 chr1:110302370:C:T 1782_185_62_R->Q 0.000199681 99 chr1:110302392:A:T 1782_163_55_F->I 0.00119808 99 chr1:110302403:A:G 1782_152_51_L->S 0.000998403 99 chr1:110302450:C:T 1782_105_35_M->I 0.0111821 99 chr1:110304142:G:A 1782_71_24_P->L 0.000399361 99 chr1:110304179:G:A 1782_34_12_H->Y 0.000199681 99 chr1:110304344:A:G 1782_28_10_Y->H 0.000199681 99 chr1:110304347:T:C 1782_25_9_I->V 0.000199681 99 chr1:110304359:T:C 1782_13_5_S->G 0.00119808 99 na12878 Variants: 99 chr1:110300441:G:A 1782_877_293_H->Y 99 snyder Variants: 99 chr1:110300441:G:A 1782_877_293_H->Y 100 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000184371_ENST00000329608 gene_Name: CSF1_HUMAN 100 list of pdbs: 100 4FA8 pdb_description: 29-Aug-12 X-ray 2.200 Multi-pronged modulation of cytokine signaling 100 4ADF pdb_description: 22-Aug-12 X-ray 4.400 Crystal structure of the human colony-stimulating factor 1 ( cytokine in complex with the viral receptor barf1 100 3UF2 pdb_description: 22-Aug-12 X-ray 2.750 Crystal structure of the human colony-stimulating factor 1 ( cytokine 100 3UEZ pdb_description: 22-Aug-12 X-ray 3.410 Crystal structure of the human colony-stimulating factor 1 ( cytokine in complex with the viral receptor barf1 100 1HMC pdb_description: 30-Apr-94 X-ray 2.500 Three-dimensional structure of dimeric human recombinant macrophage colony stimulating factor 100 Zimmer Variants: 100 chr1:110466709:T:C 1665_1466_489_F->S 100 chr1:110466466:T:C 1665_1223_408_L->P 100 HGMD Variants: 100 chr1:110466466:T:C 1665_1223_408_L->P 100 oneKG Variants: 100 chr1:110453648:G:A 1665_3_1_M->I 0.000199681 100 chr1:110456987:A:G 1665_146_49_Q->R 0.000199681 100 chr1:110456999:G:A 1665_158_53_R->Q 0.000199681 100 chr1:110459982:G:A 1665_293_98_R->H 0.000199681 100 chr1:110464553:G:A 1665_481_161_D->N 0.000199681 100 chr1:110464593:G:T 1665_521_174_S->I 0.000199681 100 chr1:110464595:T:C 1665_523_175_F->L 0.000399361 100 chr1:110465823:C:T 1665_580_194_P->S 0.000199681 100 chr1:110465848:C:T 1665_605_202_P->L 0.000798722 100 chr1:110465874:C:T 1665_631_211_L->F 0.000199681 100 chr1:110465887:T:C 1665_644_215_M->T 0.000399361 100 chr1:110465935:G:A 1665_692_231_G->D 0.000199681 100 chr1:110465941:C:T 1665_698_233_S->F 0.000199681 100 chr1:110465971:C:T 1665_728_243_T->I 0.000199681 100 chr1:110466027:G:C 1665_784_262_E->Q 0.000199681 100 chr1:110466133:C:A 1665_890_297_S->Y 0.000199681 100 chr1:110466265:G:A 1665_1022_341_S->N 0.000199681 100 chr1:110466307:A:G 1665_1064_355_K->R 0.000199681 100 chr1:110466360:G:A 1665_1117_373_V->M 0.000199681 100 chr1:110466373:G:T 1665_1130_377_G->V 0.000199681 100 chr1:110466397:A:G 1665_1154_385_Q->R 0.00139776 100 chr1:110466402:A:G 1665_1159_387_T->A 0.00199681 100 chr1:110466436:C:T 1665_1193_398_P->L 0.000399361 100 chr1:110466466:T:C 1665_1223_408_L->P 0.421526 100 chr1:110466469:G:T 1665_1226_409_R->L 0.000199681 100 chr1:110466550:C:T 1665_1307_436_P->L 0.000199681 100 chr1:110466555:G:A 1665_1312_438_G->R 0.111422 100 chr1:110466624:A:G 1665_1381_461_S->G 0.00319489 100 chr1:110466642:C:A 1665_1399_467_P->T 0.000199681 100 chr1:110466663:G:A 1665_1420_474_V->I 0.000199681 100 chr1:110466709:T:C 1665_1466_489_F->S 0.003195 100 chr1:110466759:A:G 1665_1516_506_I->V 0.000199681 100 chr1:110466777:G:A 1665_1534_512_V->I 0.000399361 100 chr1:110466807:C:T 1665_1564_522_R->W 0.000199681 100 chr1:110467420:C:T 1665_1592_531_A->V 0.000199681 100 na12878 Variants: 100 chr1:110466709:T:C 1665_1466_489_F->S 100 snyder Variants: 100 chr1:110466709:T:C 1665_1466_489_F->S 101 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000184371_ENST00000369802 gene_Name: CSF1_HUMAN 101 list of pdbs: 101 4FA8 pdb_description: 29-Aug-12 X-ray 2.200 Multi-pronged modulation of cytokine signaling 101 4ADF pdb_description: 22-Aug-12 X-ray 4.400 Crystal structure of the human colony-stimulating factor 1 ( cytokine in complex with the viral receptor barf1 101 3UF2 pdb_description: 22-Aug-12 X-ray 2.750 Crystal structure of the human colony-stimulating factor 1 ( cytokine 101 3UEZ pdb_description: 22-Aug-12 X-ray 3.410 Crystal structure of the human colony-stimulating factor 1 ( cytokine in complex with the viral receptor barf1 101 1HMC pdb_description: 30-Apr-94 X-ray 2.500 Three-dimensional structure of dimeric human recombinant macrophage colony stimulating factor 101 Zimmer Variants: 101 chr1:110466709:T:C 1665_1466_489_F->S 101 chr1:110466466:T:C 1665_1223_408_L->P;GNEG=Yes;GENE=CSF1;CDSS=2 101 HGMD Variants: 101 chr1:110466466:T:C 1665_1223_408_L->P 101 oneKG Variants: 101 chr1:110453648:G:A 1665_3_1_M->I 0.000199681 101 chr1:110456987:A:G 1665_146_49_Q->R 0.000199681 101 chr1:110456999:G:A 1665_158_53_R->Q 0.000199681 101 chr1:110459982:G:A 1665_293_98_R->H 0.000199681 101 chr1:110464553:G:A 1665_481_161_D->N 0.000199681 101 chr1:110464593:G:T 1665_521_174_S->I 0.000199681 101 chr1:110464595:T:C 1665_523_175_F->L 0.000399361 101 chr1:110465823:C:T 1665_580_194_P->S 0.000199681 101 chr1:110465848:C:T 1665_605_202_P->L 0.000798722 101 chr1:110465874:C:T 1665_631_211_L->F 0.000199681 101 chr1:110465887:T:C 1665_644_215_M->T 0.000399361 101 chr1:110465935:G:A 1665_692_231_G->D 0.000199681 101 chr1:110465941:C:T 1665_698_233_S->F 0.000199681 101 chr1:110465971:C:T 1665_728_243_T->I 0.000199681 101 chr1:110466027:G:C 1665_784_262_E->Q 0.000199681 101 chr1:110466133:C:A 1665_890_297_S->Y 0.000199681 101 chr1:110466265:G:A 1665_1022_341_S->N 0.000199681 101 chr1:110466307:A:G 1665_1064_355_K->R 0.000199681 101 chr1:110466360:G:A 1665_1117_373_V->M 0.000199681 101 chr1:110466373:G:T 1665_1130_377_G->V 0.000199681 101 chr1:110466397:A:G 1665_1154_385_Q->R 0.00139776 101 chr1:110466402:A:G 1665_1159_387_T->A 0.00199681 101 chr1:110466436:C:T 1665_1193_398_P->L 0.000399361 101 chr1:110466466:T:C 1665_1223_408_L->P 0.421526 101 chr1:110466469:G:T 1665_1226_409_R->L 0.000199681 101 chr1:110466550:C:T 1665_1307_436_P->L 0.000199681 101 chr1:110466555:G:A 1665_1312_438_G->R 0.111422 101 chr1:110466624:A:G 1665_1381_461_S->G 0.00319489 101 chr1:110466642:C:A 1665_1399_467_P->T 0.000199681 101 chr1:110466663:G:A 1665_1420_474_V->I 0.000199681 101 chr1:110466709:T:C 1665_1466_489_F->S 0.003195 101 chr1:110466759:A:G 1665_1516_506_I->V 0.000199681 101 chr1:110466777:G:A 1665_1534_512_V->I 0.000399361 101 chr1:110466807:C:T 1665_1564_522_R->W 0.000199681 101 chr1:110467420:C:T 1665_1592_531_A->V 0.000199681 101 na12878 Variants: 101 chr1:110466709:T:C 1665_1466_489_F->S 101 snyder Variants: 101 chr1:110466709:T:C 1665_1466_489_F->S 102 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160712_ENST00000368485 gene_Name: IL6RA_HUMAN 102 list of pdbs: 102 2ARW pdb_description: 12-Sep-06 NMR 1 The solution structure of the membrane proximal cytokine receptor domain of the human interleukin-6 receptor 102 1P9M pdb_description: 01-Jul-03 X-ray 3.650 Crystal structure of the hexameric human il-6/il-6 alpha receptor/gp130 complex 102 1N2Q pdb_description: 18-Dec-02 Theoret model A model of the extra-cellular hexameric signalling complex of il-6/il-6 receptor and gp130 102 1N26 pdb_description: 18-Dec-02 X-ray 2.400 Crystal structure of the extra-cellular domains of human int receptor alpha chain 102 Zimmer Variants: 102 chr1:154426970:A:C 1407_1073_358_D->A;HUB=PPI;GENE=IL6R;CDSS=3 102 HGMD Variants: 102 chr1:154426970:A:C 1407_1073_358_D->A 102 oneKG Variants: 102 chr1:154401780:C:T 1407_194_65_P->L 0.00219649 102 chr1:154402969:G:T 1407_345_115_E->D 0.000199681 102 chr1:154403015:G:C 1407_391_131_V->L 0.000199681 102 chr1:154407101:A:G 1407_565_189_I->V 0.000798722 102 chr1:154407110:A:G 1407_574_192_M->V 0.000599042 102 chr1:154407129:T:C 1407_593_198_V->A 0.000199681 102 chr1:154407606:C:T 1407_781_261_R->W 0.000199681 102 chr1:154407607:G:A 1407_782_261_R->Q 0.0 102 chr1:154408535:C:G 1407_898_300_Q->E 0.000199681 102 chr1:154426970:A:C 1407_1073_358_D->A 0.293131 102 chr1:154427026:G:A 1407_1129_377_G->R 0.000199681 102 chr1:154427032:C:T 1407_1135_379_L->F 0.000399361 102 chr1:154427050:G:A 1407_1153_385_V->I 0.0569089 102 chr1:154437633:G:A 1407_1184_395_R->Q 0.000599042 102 chr1:154437719:C:T 1407_1270_424_L->F 0.000199681 102 chr1:154437741:C:T 1407_1292_431_P->L 0.000399361 102 chr1:154437801:G:C 1407_1352_451_R->T 0.00119808 102 chr1:154437814:C:G 1407_1365_455_S->R 0.000199681 102 na12878 Variants: 102 chr1:154426970:A:C 1407_1073_358_D->A 102 snyder Variants: 102 chr1:154426970:A:C 1407_1073_358_D->A 103 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160710_ENST00000368474 gene_Name: DSRAD_HUMAN 103 list of pdbs: 103 3IRR pdb_description: 19-May-10 X-ray 2.650 Crystal structure of a z-z junction (with hepes intercalatin 103 3IRQ pdb_description: 19-May-10 X-ray 2.800 Crystal structure of a z-z junction 103 3F23 pdb_description: 30-Dec-08 X-ray 2.700 Crystal structure of zalpha in complex with d(cggccg) 103 3F22 pdb_description: 30-Dec-08 X-ray 2.500 Crystal structure of zalpha in complex with d(cgtacg) 103 3F21 pdb_description: 30-Dec-08 X-ray 2.200 Crystal structure of zalpha in complex with d(cacgtg) 103 2L54 pdb_description: 12-Jan-11 NMR 20 Solution structure of the zalpha domain mutant of adar1 (n43 103 2GXB pdb_description: 01-May-07 X-ray 2.250 Crystal structure of the za domain bound to z-RNA 103 2ACJ pdb_description: 25-Oct-05 X-ray 2.600 Crystal structure of the b/z junction containing DNA bound t binding proteins 103 1XMK pdb_description: 02-Aug-05 X-ray 0.970 The crystal structure of the zb domain from the RNA editing enzyme adar1 103 1QGP pdb_description: 19-Oct-99 NMR 15 Nmr structure of the z-alpha domain of adar1, 15 structures 103 1QBJ pdb_description: 02-Jul-99 X-ray 2.100 Crystal structure of the zalpha z-DNA complex 103 Zimmer Variants: 103 chr1:154573967:T:C 3681_1151_384_K->R 103 chr1:154574820:T:C 3681_298_100_R->G;HUB=REG;GNEG=Yes;GENE=ADAR;CDSS=3;DBRECUR=ADAR 103 HGMD Variants: 103 chr1:154557404:T:A 3681_3559_1187_K->* 103 chr1:154558258:G:A 3681_3286_1096_R->* 103 chr1:154558819:C:A 3681_3040_1014_E->* 103 chr1:154560653:G:T 3681_2967_989_Y->* 103 chr1:154561055:T:A 3681_2857_953_K->* 103 chr1:154561058:T:A 3681_2854_952_K->* 103 chr1:154561064:G:A 3681_2848_950_Q->* 103 chr1:154561115:G:A 3681_2797_933_Q->* 103 chr1:154561928:A:T 3681_2679_893_C->* 103 chr1:154569354:C:A 3681_2197_733_E->* 103 chr1:154569601:G:A 3681_2077_693_Q->* 103 chr1:154570440:G:A 3681_1798_600_Q->* 103 chr1:154570921:G:C 3681_1742_581_S->* 103 chr1:154571033:G:A 3681_1630_544_R->* 103 chr1:154573581:G:A 3681_1537_513_Q->* 103 chr1:154573639:G:C 3681_1479_493_Y->* 103 chr1:154573646:G:C 3681_1472_491_S->* 103 chr1:154573648:A:T 3681_1470_490_C->* 103 chr1:154573698:G:A 3681_1420_474_R->* 103 chr1:154573842:T:A 3681_1276_426_R->* 103 chr1:154573928:G:T 3681_1190_397_S->* 103 chr1:154574046:T:A 3681_1072_358_K->* 103 chr1:154574100:G:A 3681_1018_340_Q->* 103 chr1:154574136:G:A 3681_982_328_R->* 103 chr1:154574562:G:A 3681_556_186_Q->* 103 chr1:154575048:G:A 3681_70_24_Q->* 103 chr1:154557346:A:G 3681_3617_1206_M->T 103 chr1:154557389:A:C 3681_3574_1192_Y->D 103 chr1:154557407:T:C 3681_3556_1186_K->E 103 chr1:154557457:C:A 3681_3506_1169_C->F 103 chr1:154557469:A:G 3681_3494_1165_F->S 103 chr1:154557480:A:C 3681_3483_1161_I->M 103 chr1:154557499:C:G 3681_3464_1155_R->P 103 chr1:154557500:G:A 3681_3463_1155_R->W 103 chr1:154557502:G:A 3681_3461_1154_S->F 103 chr1:154557717:T:C 3681_3419_1140_D->G 103 chr1:154557751:A:G 3681_3385_1129_C->R 103 chr1:154557771:T:A 3681_3365_1122_K->M 103 chr1:154557799:C:A 3681_3337_1113_D->Y 103 chr1:154557799:C:G 3681_3337_1113_D->H 103 chr1:154557801:T:A 3681_3335_1112_Y->F 103 chr1:154558229:C:A 3681_3315_1105_K->N 103 chr1:154558249:A:G 3681_3295_1099_F->L 103 chr1:154558272:A:G 3681_3272_1091_F->S 103 chr1:154558296:C:T 3681_3248_1083_R->H 103 chr1:154558297:G:A 3681_3247_1083_R->C 103 chr1:154558303:A:T 3681_3241_1081_C->S 103 chr1:154558312:G:A 3681_3232_1078_R->C 103 chr1:154558320:T:C 3681_3224_1075_H->R 103 chr1:154558341:C:A 3681_3203_1068_G->V 103 chr1:154558657:C:G 3681_3202_1068_G->R 103 chr1:154558668:G:A 3681_3191_1064_S->F 103 chr1:154558677:T:C 3681_3182_1061_Y->C 103 chr1:154558719:C:T 3681_3140_1047_G->D 103 chr1:154558720:C:G 3681_3139_1047_G->R 103 chr1:154558728:T:C 3681_3131_1044_N->S 103 chr1:154558734:C:T 3681_3125_1042_R->H 103 chr1:154558735:G:A 3681_3124_1042_R->C 103 chr1:154558743:T:C 3681_3116_1039_K->R 103 chr1:154558743:T:G 3681_3116_1039_K->T 103 chr1:154558752:C:G 3681_3107_1036_C->S 103 chr1:154558752:C:T 3681_3107_1036_C->Y 103 chr1:154558757:C:T 3681_3102_1034_M->I 103 chr1:154558759:T:C 3681_3100_1034_M->V 103 chr1:154558783:G:A 3681_3076_1026_R->W 103 chr1:154560601:C:T 3681_3019_1007_G->R 103 chr1:154560612:T:C 3681_3008_1003_K->R 103 chr1:154560618:C:A 3681_3002_1001_R->L 103 chr1:154560619:G:A 3681_3001_1001_R->C 103 chr1:154560623:C:A 3681_2997_999_K->N 103 chr1:154560651:G:C 3681_2969_990_P->R 103 chr1:154560718:C:T 3681_2902_968_D->N 103 chr1:154560723:C:A 3681_2897_966_C->F 103 chr1:154560726:G:A 3681_2894_965_P->L 103 chr1:154561033:T:C 3681_2879_960_Y->C 103 chr1:154561034:A:T 3681_2878_960_Y->N 103 chr1:154561039:T:C 3681_2873_958_H->R 103 chr1:154561144:A:G 3681_2768_923_L->P 103 chr1:154561860:C:T 3681_2747_916_R->Q 103 chr1:154561860:C:A 3681_2747_916_R->L 103 chr1:154561861:G:A 3681_2746_916_R->W 103 chr1:154561863:G:A 3681_2744_915_S->F 103 chr1:154561869:A:C 3681_2738_913_I->R 103 chr1:154561891:C:A 3681_2716_906_V->F 103 chr1:154561932:C:T 3681_2675_892_R->H 103 chr1:154561932:C:A 3681_2675_892_R->L 103 chr1:154562243:G:C 3681_2658_886_S->R 103 chr1:154562286:A:G 3681_2615_872_I->T 103 chr1:154562293:C:T 3681_2608_870_A->T 103 chr1:154562709:C:T 3681_2447_816_R->K 103 chr1:154569435:C:T 3681_2116_706_E->K 103 chr1:154570412:A:G 3681_1826_609_F->S 103 chr1:154570903:T:C 3681_1760_587_Y->C 103 chr1:154570979:C:T 3681_1684_562_A->T 103 chr1:154570981:G:A 3681_1682_561_A->V 103 chr1:154573517:C:T 3681_1601_534_R->Q 103 chr1:154573962:T:C 3681_1156_386_N->D 103 chr1:154573967:T:C 3681_1151_384_K->R 103 chr1:154574541:G:C 3681_577_193_P->A 103 chr1:154574600:T:C 3681_518_173_N->S 103 chr1:154575041:C:T 3681_77_26_R->K 103 oneKG Variants: 103 chr1:154557382:G:A 3681_3581_1194_T->M 0.000399361 103 chr1:154557448:C:T 3681_3515_1172_R->H 0.000199681 103 chr1:154557735:T:C 3681_3401_1134_Y->C 0.000199681 103 chr1:154558255:G:T 3681_3289_1097_H->N 0.000199681 103 chr1:154558666:C:T 3681_3193_1065_V->I 0.000199681 103 chr1:154562266:C:G 3681_2635_879_E->Q 0.000199681 103 chr1:154562778:A:G 3681_2378_793_I->T 0.000199681 103 chr1:154562808:T:C 3681_2348_783_E->G 0.000199681 103 chr1:154562836:C:A 3681_2320_774_A->S 0.000199681 103 chr1:154562881:C:T 3681_2275_759_V->I 0.000199681 103 chr1:154569429:T:G 3681_2122_708_M->L 0.000199681 103 chr1:154569444:C:G 3681_2107_703_D->H 0.000399361 103 chr1:154569452:T:C 3681_2099_700_E->G 0.000998403 103 chr1:154570392:C:T 3681_1846_616_V->I 0.000199681 103 chr1:154570437:T:C 3681_1801_601_T->A 0.000199681 103 chr1:154570903:T:C 3681_1760_587_Y->C 0.0135783 103 chr1:154571038:T:C 3681_1625_542_N->S 0.000399361 103 chr1:154573718:C:T 3681_1400_467_R->H 0.000199681 103 chr1:154573889:T:C 3681_1229_410_E->G 0.000399361 103 chr1:154573964:C:T 3681_1154_385_R->K 0.000199681 103 chr1:154573967:T:C 3681_1151_384_K->R 0.377396 103 chr1:154574115:T:A 3681_1003_335_I->F 0.00519169 103 chr1:154574183:T:A 3681_935_312_D->V 0.000199681 103 chr1:154574321:C:T 3681_797_266_S->N 0.000199681 103 chr1:154574346:C:T 3681_772_258_G->R 0.000998403 103 chr1:154574356:G:C 3681_762_254_N->K 0.000199681 103 chr1:154574462:C:G 3681_656_219_G->A 0.000399361 103 chr1:154574468:C:T 3681_650_217_S->N 0.000199681 103 chr1:154574541:G:C 3681_577_193_P->A 0.00139776 103 chr1:154574552:G:A 3681_566_189_A->V 0.000199681 103 chr1:154574600:T:C 3681_518_173_N->S 0.000599042 103 chr1:154574778:G:A 3681_340_114_R->C 0.000199681 103 chr1:154574820:T:C 3681_298_100_R->G 0.003794 103 chr1:154574954:G:A 3681_164_55_P->L 0.000199681 103 na12878 Variants: 103 chr1:154573967:T:C 3681_1151_384_K->R 103 chr1:154574820:T:C 3681_298_100_R->G 103 snyder Variants: 103 chr1:154573967:T:C 3681_1151_384_K->R 103 chr1:154574820:T:C 3681_298_100_R->G 104 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160710_ENST00000368471 gene_Name: DSRAD_HUMAN 104 list of pdbs: 104 3IRR pdb_description: 19-May-10 X-ray 2.650 Crystal structure of a z-z junction (with hepes intercalatin 104 3IRQ pdb_description: 19-May-10 X-ray 2.800 Crystal structure of a z-z junction 104 3F23 pdb_description: 30-Dec-08 X-ray 2.700 Crystal structure of zalpha in complex with d(cggccg) 104 3F22 pdb_description: 30-Dec-08 X-ray 2.500 Crystal structure of zalpha in complex with d(cgtacg) 104 3F21 pdb_description: 30-Dec-08 X-ray 2.200 Crystal structure of zalpha in complex with d(cacgtg) 104 2L54 pdb_description: 12-Jan-11 NMR 20 Solution structure of the zalpha domain mutant of adar1 (n43 104 2GXB pdb_description: 01-May-07 X-ray 2.250 Crystal structure of the za domain bound to z-RNA 104 2ACJ pdb_description: 25-Oct-05 X-ray 2.600 Crystal structure of the b/z junction containing DNA bound t binding proteins 104 1XMK pdb_description: 02-Aug-05 X-ray 0.970 The crystal structure of the zb domain from the RNA editing enzyme adar1 104 1QGP pdb_description: 19-Oct-99 NMR 15 Nmr structure of the z-alpha domain of adar1, 15 structures 104 1QBJ pdb_description: 02-Jul-99 X-ray 2.100 Crystal structure of the zalpha z-DNA complex 104 Zimmer Variants: 104 chr1:154573967:T:C 2796_266_89_K->R;HUB=REG;GNEG=Yes;GENE=ADAR;CDSS=3;DBRECUR=ADAR 104 HGMD Variants: 104 chr1:154557404:T:A 2796_2674_892_K->* 104 chr1:154558258:G:A 2796_2401_801_R->* 104 chr1:154558819:C:A 2796_2155_719_E->* 104 chr1:154560653:G:T 2796_2082_694_Y->* 104 chr1:154561055:T:A 2796_1972_658_K->* 104 chr1:154561058:T:A 2796_1969_657_K->* 104 chr1:154561064:G:A 2796_1963_655_Q->* 104 chr1:154561115:G:A 2796_1912_638_Q->* 104 chr1:154561928:A:T 2796_1794_598_C->* 104 chr1:154569354:C:A 2796_1312_438_E->* 104 chr1:154569601:G:A 2796_1192_398_Q->* 104 chr1:154570440:G:A 2796_913_305_Q->* 104 chr1:154570921:G:C 2796_857_286_S->* 104 chr1:154571033:G:A 2796_745_249_R->* 104 chr1:154573581:G:A 2796_652_218_Q->* 104 chr1:154573639:G:C 2796_594_198_Y->* 104 chr1:154573646:G:C 2796_587_196_S->* 104 chr1:154573648:A:T 2796_585_195_C->* 104 chr1:154573698:G:A 2796_535_179_R->* 104 chr1:154573842:T:A 2796_391_131_R->* 104 chr1:154573928:G:T 2796_305_102_S->* 104 chr1:154574046:T:A 2796_187_63_K->* 104 chr1:154574100:G:A 2796_133_45_Q->* 104 chr1:154574136:G:A 2796_97_33_R->* 104 chr1:154557346:A:G 2796_2732_911_M->T 104 chr1:154557389:A:C 2796_2689_897_Y->D 104 chr1:154557407:T:C 2796_2671_891_K->E 104 chr1:154557457:C:A 2796_2621_874_C->F 104 chr1:154557469:A:G 2796_2609_870_F->S 104 chr1:154557480:A:C 2796_2598_866_I->M 104 chr1:154557499:C:G 2796_2579_860_R->P 104 chr1:154557500:G:A 2796_2578_860_R->W 104 chr1:154557502:G:A 2796_2576_859_S->F 104 chr1:154557717:T:C 2796_2534_845_D->G 104 chr1:154557751:A:G 2796_2500_834_C->R 104 chr1:154557771:T:A 2796_2480_827_K->M 104 chr1:154557799:C:A 2796_2452_818_D->Y 104 chr1:154557799:C:G 2796_2452_818_D->H 104 chr1:154557801:T:A 2796_2450_817_Y->F 104 chr1:154558229:C:A 2796_2430_810_K->N 104 chr1:154558249:A:G 2796_2410_804_F->L 104 chr1:154558272:A:G 2796_2387_796_F->S 104 chr1:154558296:C:T 2796_2363_788_R->H 104 chr1:154558297:G:A 2796_2362_788_R->C 104 chr1:154558303:A:T 2796_2356_786_C->S 104 chr1:154558312:G:A 2796_2347_783_R->C 104 chr1:154558320:T:C 2796_2339_780_H->R 104 chr1:154558341:C:A 2796_2318_773_G->V 104 chr1:154558657:C:G 2796_2317_773_G->R 104 chr1:154558668:G:A 2796_2306_769_S->F 104 chr1:154558677:T:C 2796_2297_766_Y->C 104 chr1:154558719:C:T 2796_2255_752_G->D 104 chr1:154558720:C:G 2796_2254_752_G->R 104 chr1:154558728:T:C 2796_2246_749_N->S 104 chr1:154558734:C:T 2796_2240_747_R->H 104 chr1:154558735:G:A 2796_2239_747_R->C 104 chr1:154558743:T:C 2796_2231_744_K->R 104 chr1:154558743:T:G 2796_2231_744_K->T 104 chr1:154558752:C:G 2796_2222_741_C->S 104 chr1:154558752:C:T 2796_2222_741_C->Y 104 chr1:154558757:C:T 2796_2217_739_M->I 104 chr1:154558759:T:C 2796_2215_739_M->V 104 chr1:154558783:G:A 2796_2191_731_R->W 104 chr1:154560601:C:T 2796_2134_712_G->R 104 chr1:154560612:T:C 2796_2123_708_K->R 104 chr1:154560618:C:A 2796_2117_706_R->L 104 chr1:154560619:G:A 2796_2116_706_R->C 104 chr1:154560623:C:A 2796_2112_704_K->N 104 chr1:154560651:G:C 2796_2084_695_P->R 104 chr1:154560718:C:T 2796_2017_673_D->N 104 chr1:154560723:C:A 2796_2012_671_C->F 104 chr1:154560726:G:A 2796_2009_670_P->L 104 chr1:154561033:T:C 2796_1994_665_Y->C 104 chr1:154561034:A:T 2796_1993_665_Y->N 104 chr1:154561039:T:C 2796_1988_663_H->R 104 chr1:154561144:A:G 2796_1883_628_L->P 104 chr1:154561860:C:T 2796_1862_621_R->Q 104 chr1:154561860:C:A 2796_1862_621_R->L 104 chr1:154561861:G:A 2796_1861_621_R->W 104 chr1:154561863:G:A 2796_1859_620_S->F 104 chr1:154561869:A:C 2796_1853_618_I->R 104 chr1:154561891:C:A 2796_1831_611_V->F 104 chr1:154561932:C:T 2796_1790_597_R->H 104 chr1:154561932:C:A 2796_1790_597_R->L 104 chr1:154562243:G:C 2796_1773_591_S->R 104 chr1:154562286:A:G 2796_1730_577_I->T 104 chr1:154562293:C:T 2796_1723_575_A->T 104 chr1:154562709:C:T 2796_1562_521_R->K 104 chr1:154569435:C:T 2796_1231_411_E->K 104 chr1:154570412:A:G 2796_941_314_F->S 104 chr1:154570903:T:C 2796_875_292_Y->C 104 chr1:154570979:C:T 2796_799_267_A->T 104 chr1:154570981:G:A 2796_797_266_A->V 104 chr1:154573517:C:T 2796_716_239_R->Q 104 chr1:154573962:T:C 2796_271_91_N->D 104 chr1:154573967:T:C 2796_266_89_K->R 104 oneKG Variants: 104 chr1:154557382:G:A 2796_2696_899_T->M 0.000399361 104 chr1:154557448:C:T 2796_2630_877_R->H 0.000199681 104 chr1:154557735:T:C 2796_2516_839_Y->C 0.000199681 104 chr1:154558255:G:T 2796_2404_802_H->N 0.000199681 104 chr1:154558666:C:T 2796_2308_770_V->I 0.000199681 104 chr1:154562266:C:G 2796_1750_584_E->Q 0.000199681 104 chr1:154562778:A:G 2796_1493_498_I->T 0.000199681 104 chr1:154562808:T:C 2796_1463_488_E->G 0.000199681 104 chr1:154562836:C:A 2796_1435_479_A->S 0.000199681 104 chr1:154562881:C:T 2796_1390_464_V->I 0.000199681 104 chr1:154569429:T:G 2796_1237_413_M->L 0.000199681 104 chr1:154569444:C:G 2796_1222_408_D->H 0.000399361 104 chr1:154569452:T:C 2796_1214_405_E->G 0.000998403 104 chr1:154570392:C:T 2796_961_321_V->I 0.000199681 104 chr1:154570437:T:C 2796_916_306_T->A 0.000199681 104 chr1:154570903:T:C 2796_875_292_Y->C 0.0135783 104 chr1:154571038:T:C 2796_740_247_N->S 0.000399361 104 chr1:154573718:C:T 2796_515_172_R->H 0.000199681 104 chr1:154573889:T:C 2796_344_115_E->G 0.000399361 104 chr1:154573964:C:T 2796_269_90_R->K 0.000199681 104 chr1:154573967:T:C 2796_266_89_K->R 0.377396 104 chr1:154574115:T:A 2796_118_40_I->F 0.00519169 104 chr1:154574183:T:A 2796_50_17_D->V 0.000199681 104 na12878 Variants: 104 chr1:154573967:T:C 2796_266_89_K->R 104 snyder Variants: 104 chr1:154573967:T:C 2796_266_89_K->R 105 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116539_ENST00000368346 gene_Name: ASH1L_HUMAN 105 list of pdbs: 105 3OPE pdb_description: 12-Jan-11 X-ray 2.900 Structural basis of auto-inhibitory mechanism of histone methyltransferase 105 3MQM pdb_description: 19-May-10 X-ray 2.540 Crystal structure of the bromodomain of human ash1l 105 Zimmer Variants: 105 chr1:155408635:T:C 8910_5311_1771_T->A 105 HGMD Variants: 105 chr1:155450491:C:A 8910_2170_724_A->S 105 chr1:155452170:C:T 8910_491_164_R->H 105 oneKG Variants: 105 chr1:155307463:G:C 8910_8898_2966_S->R 0.000599042 105 chr1:155308021:C:T 8910_8677_2893_V->I 0.000199681 105 chr1:155308041:C:T 8910_8657_2886_R->Q 0.000399361 105 chr1:155308042:G:A 8910_8656_2886_R->W 0.000399361 105 chr1:155308093:C:T 8910_8605_2869_A->T 0.000199681 105 chr1:155309128:T:C 8910_8507_2836_N->S 0.000399361 105 chr1:155313111:A:T 8910_8302_2768_C->S 0.000199681 105 chr1:155317551:C:A 8910_7714_2572_V->F 0.000199681 105 chr1:155317567:G:C 8910_7698_2566_D->E 0.000199681 105 chr1:155317667:C:G 8910_7598_2533_G->A 0.000199681 105 chr1:155317682:C:T 8910_7583_2528_R->H 0.000798722 105 chr1:155317694:T:C 8910_7571_2524_K->R 0.000199681 105 chr1:155319201:T:C 8910_7486_2496_I->V 0.000199681 105 chr1:155324404:T:A 8910_7088_2363_H->L 0.000199681 105 chr1:155327116:T:C 8910_7061_2354_N->S 0.000199681 105 chr1:155327167:A:T 8910_7010_2337_I->N 0.000199681 105 chr1:155340613:A:T 8910_6509_2170_F->Y 0.000199681 105 chr1:155340670:C:T 8910_6452_2151_R->Q 0.000399361 105 chr1:155385662:G:A 8910_5881_1961_P->S 0.00219649 105 chr1:155385682:G:A 8910_5861_1954_P->L 0.000199681 105 chr1:155408122:T:C 8910_5824_1942_K->E 0.000199681 105 chr1:155408125:T:C 8910_5821_1941_N->D 0.0061901 105 chr1:155408398:G:A 8910_5548_1850_P->S 0.000199681 105 chr1:155408635:T:C 8910_5311_1771_T->A 0.051318 105 chr1:155408644:G:A 8910_5302_1768_P->S 0.000399361 105 chr1:155408664:T:C 8910_5282_1761_K->R 0.000199681 105 chr1:155408686:T:C 8910_5260_1754_S->G 0.000199681 105 chr1:155429641:G:A 8910_5033_1678_T->I 0.000399361 105 chr1:155429643:G:C 8910_5031_1677_S->R 0.000199681 105 chr1:155447818:T:C 8910_4843_1615_R->G 0.000798722 105 chr1:155447868:G:A 8910_4793_1598_A->V 0.00139776 105 chr1:155447943:G:A 8910_4718_1573_T->I 0.000199681 105 chr1:155448057:C:T 8910_4604_1535_R->H 0.000199681 105 chr1:155448058:G:A 8910_4603_1535_R->C 0.000199681 105 chr1:155448133:C:T 8910_4528_1510_V->I 0.000199681 105 chr1:155448183:C:T 8910_4478_1493_R->H 0.000199681 105 chr1:155448405:G:A 8910_4256_1419_T->M 0.000199681 105 chr1:155448415:A:G 8910_4246_1416_S->P 0.0127796 105 chr1:155448475:T:A 8910_4186_1396_I->L 0.000199681 105 chr1:155448507:G:C 8910_4154_1385_P->R 0.000199681 105 chr1:155448603:G:A 8910_4058_1353_P->L 0.000199681 105 chr1:155448843:T:C 8910_3818_1273_K->R 0.000199681 105 chr1:155449144:G:A 8910_3517_1173_H->Y 0.000199681 105 chr1:155449168:T:C 8910_3493_1165_T->A 0.000199681 105 chr1:155449182:C:T 8910_3479_1160_R->Q 0.000399361 105 chr1:155449183:G:A 8910_3478_1160_R->W 0.000199681 105 chr1:155449253:C:A 8910_3408_1136_L->F 0.000199681 105 chr1:155449342:T:C 8910_3319_1107_I->V 0.00139776 105 chr1:155449552:T:C 8910_3109_1037_I->V 0.000199681 105 chr1:155449621:C:T 8910_3040_1014_V->M 0.000199681 105 chr1:155449711:G:A 8910_2950_984_R->C 0.000199681 105 chr1:155449788:C:T 8910_2873_958_S->N 0.000199681 105 chr1:155450062:T:C 8910_2599_867_I->V 0.000199681 105 chr1:155450274:C:T 8910_2387_796_S->N 0.000199681 105 chr1:155450331:C:T 8910_2330_777_R->H 0.00778754 105 chr1:155450332:G:A 8910_2329_777_R->C 0.000199681 105 chr1:155450355:A:T 8910_2306_769_F->Y 0.000199681 105 chr1:155450373:T:G 8910_2288_763_N->T 0.000199681 105 chr1:155450575:C:T 8910_2086_696_V->I 0.000199681 105 chr1:155450713:G:A 8910_1948_650_L->F 0.000199681 105 chr1:155450838:C:T 8910_1823_608_S->N 0.000199681 105 chr1:155450938:A:C 8910_1723_575_S->A 0.000399361 105 chr1:155450956:T:C 8910_1705_569_R->G 0.000199681 105 chr1:155450989:G:A 8910_1672_558_P->S 0.000199681 105 chr1:155451028:A:G 8910_1633_545_S->P 0.000199681 105 chr1:155451091:G:A 8910_1570_524_P->S 0.000199681 105 chr1:155451162:C:T 8910_1499_500_C->Y 0.000199681 105 chr1:155451210:C:T 8910_1451_484_R->Q 0.000199681 105 chr1:155451303:G:A 8910_1358_453_S->F 0.000199681 105 chr1:155451343:A:C 8910_1318_440_C->G 0.0205671 105 chr1:155451382:C:T 8910_1279_427_E->K 0.000599042 105 chr1:155451676:T:C 8910_985_329_T->A 0.000199681 105 chr1:155451832:T:C 8910_829_277_S->G 0.00359425 105 chr1:155451939:C:T 8910_722_241_G->E 0.000199681 105 chr1:155452072:G:A 8910_589_197_L->F 0.000199681 105 chr1:155452224:T:C 8910_437_146_Y->C 0.000199681 105 chr1:155490964:A:G 8910_347_116_I->T 0.0111821 105 chr1:155491096:T:C 8910_215_72_Q->R 0.000399361 105 chr1:155491107:A:C 8910_204_68_D->E 0.000199681 105 chr1:155491232:T:G 8910_79_27_S->R 0.000199681 105 na12878 Variants: 105 chr1:155408635:T:C 8910_5311_1771_T->A 105 snyder Variants: 105 chr1:155408635:T:C 8910_5311_1771_T->A 106 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116539_ENST00000392403 gene_Name: ASH1L_HUMAN 106 list of pdbs: 106 3OPE pdb_description: 12-Jan-11 X-ray 2.900 Structural basis of auto-inhibitory mechanism of histone methyltransferase 106 3MQM pdb_description: 19-May-10 X-ray 2.540 Crystal structure of the bromodomain of human ash1l 106 Zimmer Variants: 106 chr1:155408635:T:C 8895_5311_1771_T->A;GNEG=Yes;GENE=ASH1L;CDSS=3;DBRECUR=ASH1L 106 HGMD Variants: 106 chr1:155450491:C:A 8895_2170_724_A->S 106 chr1:155452170:C:T 8895_491_164_R->H 106 oneKG Variants: 106 chr1:155307463:G:C 8895_8883_2961_S->R 0.000599042 106 chr1:155308021:C:T 8895_8662_2888_V->I 0.000199681 106 chr1:155308041:C:T 8895_8642_2881_R->Q 0.000399361 106 chr1:155308042:G:A 8895_8641_2881_R->W 0.000399361 106 chr1:155308093:C:T 8895_8590_2864_A->T 0.000199681 106 chr1:155309128:T:C 8895_8492_2831_N->S 0.000399361 106 chr1:155313111:A:T 8895_8287_2763_C->S 0.000199681 106 chr1:155317551:C:A 8895_7699_2567_V->F 0.000199681 106 chr1:155317567:G:C 8895_7683_2561_D->E 0.000199681 106 chr1:155317667:C:G 8895_7583_2528_G->A 0.000199681 106 chr1:155317682:C:T 8895_7568_2523_R->H 0.000798722 106 chr1:155317694:T:C 8895_7556_2519_K->R 0.000199681 106 chr1:155319201:T:C 8895_7471_2491_I->V 0.000199681 106 chr1:155324404:T:A 8895_7073_2358_H->L 0.000199681 106 chr1:155327116:T:C 8895_7046_2349_N->S 0.000199681 106 chr1:155327167:A:T 8895_6995_2332_I->N 0.000199681 106 chr1:155340613:A:T 8895_6494_2165_F->Y 0.000199681 106 chr1:155340670:C:T 8895_6437_2146_R->Q 0.000399361 106 chr1:155385662:G:A 8895_5881_1961_P->S 0.00219649 106 chr1:155385682:G:A 8895_5861_1954_P->L 0.000199681 106 chr1:155408122:T:C 8895_5824_1942_K->E 0.000199681 106 chr1:155408125:T:C 8895_5821_1941_N->D 0.0061901 106 chr1:155408398:G:A 8895_5548_1850_P->S 0.000199681 106 chr1:155408635:T:C 8895_5311_1771_T->A 0.051318 106 chr1:155408644:G:A 8895_5302_1768_P->S 0.000399361 106 chr1:155408664:T:C 8895_5282_1761_K->R 0.000199681 106 chr1:155408686:T:C 8895_5260_1754_S->G 0.000199681 106 chr1:155429641:G:A 8895_5033_1678_T->I 0.000399361 106 chr1:155429643:G:C 8895_5031_1677_S->R 0.000199681 106 chr1:155447818:T:C 8895_4843_1615_R->G 0.000798722 106 chr1:155447868:G:A 8895_4793_1598_A->V 0.00139776 106 chr1:155447943:G:A 8895_4718_1573_T->I 0.000199681 106 chr1:155448057:C:T 8895_4604_1535_R->H 0.000199681 106 chr1:155448058:G:A 8895_4603_1535_R->C 0.000199681 106 chr1:155448133:C:T 8895_4528_1510_V->I 0.000199681 106 chr1:155448183:C:T 8895_4478_1493_R->H 0.000199681 106 chr1:155448405:G:A 8895_4256_1419_T->M 0.000199681 106 chr1:155448415:A:G 8895_4246_1416_S->P 0.0127796 106 chr1:155448475:T:A 8895_4186_1396_I->L 0.000199681 106 chr1:155448507:G:C 8895_4154_1385_P->R 0.000199681 106 chr1:155448603:G:A 8895_4058_1353_P->L 0.000199681 106 chr1:155448843:T:C 8895_3818_1273_K->R 0.000199681 106 chr1:155449144:G:A 8895_3517_1173_H->Y 0.000199681 106 chr1:155449168:T:C 8895_3493_1165_T->A 0.000199681 106 chr1:155449182:C:T 8895_3479_1160_R->Q 0.000399361 106 chr1:155449183:G:A 8895_3478_1160_R->W 0.000199681 106 chr1:155449253:C:A 8895_3408_1136_L->F 0.000199681 106 chr1:155449342:T:C 8895_3319_1107_I->V 0.00139776 106 chr1:155449552:T:C 8895_3109_1037_I->V 0.000199681 106 chr1:155449621:C:T 8895_3040_1014_V->M 0.000199681 106 chr1:155449711:G:A 8895_2950_984_R->C 0.000199681 106 chr1:155449788:C:T 8895_2873_958_S->N 0.000199681 106 chr1:155450062:T:C 8895_2599_867_I->V 0.000199681 106 chr1:155450274:C:T 8895_2387_796_S->N 0.000199681 106 chr1:155450331:C:T 8895_2330_777_R->H 0.00778754 106 chr1:155450332:G:A 8895_2329_777_R->C 0.000199681 106 chr1:155450355:A:T 8895_2306_769_F->Y 0.000199681 106 chr1:155450373:T:G 8895_2288_763_N->T 0.000199681 106 chr1:155450575:C:T 8895_2086_696_V->I 0.000199681 106 chr1:155450713:G:A 8895_1948_650_L->F 0.000199681 106 chr1:155450838:C:T 8895_1823_608_S->N 0.000199681 106 chr1:155450938:A:C 8895_1723_575_S->A 0.000399361 106 chr1:155450956:T:C 8895_1705_569_R->G 0.000199681 106 chr1:155450989:G:A 8895_1672_558_P->S 0.000199681 106 chr1:155451028:A:G 8895_1633_545_S->P 0.000199681 106 chr1:155451091:G:A 8895_1570_524_P->S 0.000199681 106 chr1:155451162:C:T 8895_1499_500_C->Y 0.000199681 106 chr1:155451210:C:T 8895_1451_484_R->Q 0.000199681 106 chr1:155451303:G:A 8895_1358_453_S->F 0.000199681 106 chr1:155451343:A:C 8895_1318_440_C->G 0.0205671 106 chr1:155451382:C:T 8895_1279_427_E->K 0.000599042 106 chr1:155451676:T:C 8895_985_329_T->A 0.000199681 106 chr1:155451832:T:C 8895_829_277_S->G 0.00359425 106 chr1:155451939:C:T 8895_722_241_G->E 0.000199681 106 chr1:155452072:G:A 8895_589_197_L->F 0.000199681 106 chr1:155452224:T:C 8895_437_146_Y->C 0.000199681 106 chr1:155490964:A:G 8895_347_116_I->T 0.0111821 106 chr1:155491096:T:C 8895_215_72_Q->R 0.000399361 106 chr1:155491107:A:C 8895_204_68_D->E 0.000199681 106 chr1:155491232:T:G 8895_79_27_S->R 0.000199681 106 na12878 Variants: 106 chr1:155408635:T:C 8895_5311_1771_T->A 106 snyder Variants: 106 chr1:155408635:T:C 8895_5311_1771_T->A 107 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132694_ENST00000368194 gene_Name: ARHGB_HUMAN 107 list of pdbs: 107 3T06 pdb_description: 03-Aug-11 X-ray 2.840 Crystal structure of the dh/ph fragment of pdzrhogef with n- regulatory elements in complex with human rhoa 107 3KZ1 pdb_description: 28-Apr-10 X-ray 2.700 Crystal structure of the complex of pdz-rhogef dh/ph domains gamma-s activated rhoa 107 2DLS pdb_description: 20-Oct-06 NMR 20 Solution structure of the pdz domain of human rho guanine nucleotide exchange factor 11 107 1XCG pdb_description: 14-Dec-04 X-ray 2.500 Crystal structure of human rhoa in complex with dh/ph fragment of pdzrhogef 107 1HTJ pdb_description: 11-Jul-01 X-ray 2.200 Structure of the rgs-like domain from pdz-rhogef 107 Zimmer Variants: 107 chr1:156907081:T:C 4689_4400_1467_H->R 107 chr1:156907115:T:C 4689_4366_1456_S->G 107 HGMD Variants: 107 chr1:156907081:T:C 4689_4400_1467_H->R 107 chr1:156907115:T:C 4689_4366_1456_S->G 107 chr1:156918274:G:A 4689_1942_648_R->C 107 oneKG Variants: 107 chr1:156905823:G:A 4689_4658_1553_T->I 0.000199681 107 chr1:156905826:C:T 4689_4655_1552_S->N 0.000199681 107 chr1:156906676:G:A 4689_4562_1521_P->L 0.000199681 107 chr1:156907081:T:C 4689_4400_1467_H->R 0.23762 107 chr1:156907091:T:A 4689_4390_1464_M->L 0.000998403 107 chr1:156907097:C:T 4689_4384_1462_V->M 0.000199681 107 chr1:156907115:T:C 4689_4366_1456_S->G 0.40655 107 chr1:156907127:G:A 4689_4354_1452_R->C 0.000199681 107 chr1:156907132:G:A 4689_4349_1450_P->L 0.000399361 107 chr1:156907154:C:A 4689_4327_1443_G->C 0.000199681 107 chr1:156907171:T:G 4689_4310_1437_Q->P 0.000399361 107 chr1:156907216:C:A 4689_4265_1422_S->I 0.000399361 107 chr1:156907232:A:G 4689_4249_1417_S->P 0.000199681 107 chr1:156907247:A:G 4689_4234_1412_S->P 0.000599042 107 chr1:156907264:G:A 4689_4217_1406_P->L 0.000199681 107 chr1:156907271:T:G 4689_4210_1404_S->R 0.000399361 107 chr1:156908225:C:T 4689_4177_1393_G->R 0.000599042 107 chr1:156908231:C:T 4689_4171_1391_E->K 0.000199681 107 chr1:156909352:C:T 4689_4084_1362_V->I 0.000199681 107 chr1:156909391:C:T 4689_4045_1349_E->K 0.000199681 107 chr1:156909477:A:G 4689_3959_1320_M->T 0.000199681 107 chr1:156909496:G:A 4689_3940_1314_R->W 0.000199681 107 chr1:156909561:G:A 4689_3875_1292_S->F 0.000199681 107 chr1:156909619:C:T 4689_3817_1273_D->N 0.000399361 107 chr1:156909624:T:G 4689_3812_1271_E->A 0.000199681 107 chr1:156909672:C:T 4689_3764_1255_S->N 0.000199681 107 chr1:156909684:A:C 4689_3752_1251_L->R 0.000199681 107 chr1:156910011:C:T 4689_3721_1241_A->T 0.000399361 107 chr1:156910075:C:G 4689_3657_1219_R->S 0.000199681 107 chr1:156911699:G:A 4689_3409_1137_P->S 0.00139776 107 chr1:156911718:C:T 4689_3390_1130_M->I 0.00459265 107 chr1:156911732:C:T 4689_3376_1126_G->R 0.000399361 107 chr1:156911758:G:A 4689_3350_1117_A->V 0.000199681 107 chr1:156913845:C:G 4689_3117_1039_Q->H 0.000399361 107 chr1:156914186:G:C 4689_3031_1011_P->A 0.000199681 107 chr1:156916516:T:C 4689_2632_878_I->V 0.000399361 107 chr1:156916559:C:G 4689_2589_863_E->D 0.000199681 107 chr1:156916729:C:T 4689_2567_856_R->Q 0.000199681 107 chr1:156917570:C:T 4689_2332_778_V->I 0.000199681 107 chr1:156917578:C:T 4689_2324_775_R->Q 0.000199681 107 chr1:156917650:G:C 4689_2252_751_P->R 0.000199681 107 chr1:156917663:G:C 4689_2239_747_L->V 0.000199681 107 chr1:156917695:A:G 4689_2207_736_L->P 0.000199681 107 chr1:156917976:C:T 4689_2150_717_R->H 0.000199681 107 chr1:156917977:G:A 4689_2149_717_R->C 0.00139776 107 chr1:156918015:A:G 4689_2111_704_L->P 0.000599042 107 chr1:156918157:G:A 4689_2059_687_R->C 0.000199681 107 chr1:156918160:T:C 4689_2056_686_T->A 0.000199681 107 chr1:156918196:G:A 4689_2020_674_R->C 0.000199681 107 chr1:156918285:C:T 4689_1931_644_R->H 0.000199681 107 chr1:156921399:C:T 4689_1891_631_G->R 0.000199681 107 chr1:156925587:C:T 4689_1676_559_S->N 0.000199681 107 chr1:156926327:T:C 4689_1556_519_Y->C 0.000199681 107 chr1:156926340:C:T 4689_1543_515_A->T 0.000199681 107 chr1:156928561:T:C 4689_1475_492_K->R 0.000199681 107 chr1:156928576:C:T 4689_1460_487_R->H 0.00159744 107 chr1:156928592:C:A 4689_1444_482_D->Y 0.000199681 107 chr1:156928654:G:A 4689_1382_461_T->M 0.000798722 107 chr1:156928878:C:T 4689_1339_447_A->T 0.000199681 107 chr1:156928914:C:T 4689_1303_435_E->K 0.000199681 107 chr1:156931555:A:G 4689_1153_385_C->R 0.000399361 107 chr1:156933019:G:C 4689_1116_372_F->L 0.000399361 107 chr1:156933385:C:T 4689_965_322_G->D 0.000199681 107 chr1:156937787:C:T 4689_955_319_G->S 0.000199681 107 chr1:156937883:G:C 4689_859_287_P->A 0.000199681 107 chr1:156937903:C:T 4689_839_280_R->Q 0.000199681 107 chr1:156939103:C:G 4689_796_266_G->R 0.000199681 107 chr1:156939114:C:T 4689_785_262_G->D 0.000798722 107 chr1:156939148:G:A 4689_751_251_R->W 0.00379393 107 chr1:156939834:T:C 4689_704_235_D->G 0.000199681 107 chr1:156941568:A:G 4689_623_208_L->P 0.000199681 107 chr1:156941607:C:T 4689_584_195_R->H 0.000199681 107 chr1:156948127:T:C 4689_379_127_M->V 0.000798722 107 chr1:156950239:C:T 4689_263_88_R->Q 0.000199681 107 chr1:156950263:T:G 4689_239_80_K->T 0.000199681 107 chr1:156954136:C:T 4689_218_73_R->Q 0.000399361 107 chr1:156954154:A:C 4689_200_67_V->G 0.000199681 107 chr1:156954161:G:A 4689_193_65_R->C 0.000199681 107 chr1:156955879:G:C 4689_119_40_T->R 0.000199681 107 chr1:156955900:T:C 4689_98_33_Q->R 0.000199681 107 chr1:156955939:T:C 4689_59_20_D->G 0.000199681 107 na12878 Variants: 107 chr1:156907081:T:C 4689_4400_1467_H->R 107 snyder Variants: 107 chr1:156907081:T:C 4689_4400_1467_H->R 107 chr1:156907115:T:C 4689_4366_1456_S->G 108 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132694_ENST00000361409 gene_Name: ARHGB_HUMAN 108 list of pdbs: 108 3T06 pdb_description: 03-Aug-11 X-ray 2.840 Crystal structure of the dh/ph fragment of pdzrhogef with n- regulatory elements in complex with human rhoa 108 3KZ1 pdb_description: 28-Apr-10 X-ray 2.700 Crystal structure of the complex of pdz-rhogef dh/ph domains gamma-s activated rhoa 108 2DLS pdb_description: 20-Oct-06 NMR 20 Solution structure of the pdz domain of human rho guanine nucleotide exchange factor 11 108 1XCG pdb_description: 14-Dec-04 X-ray 2.500 Crystal structure of human rhoa in complex with dh/ph fragment of pdzrhogef 108 1HTJ pdb_description: 11-Jul-01 X-ray 2.200 Structure of the rgs-like domain from pdz-rhogef 108 Zimmer Variants: 108 chr1:156907081:T:C 4569_4280_1427_H->R 108 chr1:156907115:T:C 4569_4246_1416_S->G 108 HGMD Variants: 108 chr1:156907081:T:C 4569_4280_1427_H->R 108 chr1:156907115:T:C 4569_4246_1416_S->G 108 chr1:156918274:G:A 4569_1822_608_R->C 108 oneKG Variants: 108 chr1:156905823:G:A 4569_4538_1513_T->I 0.000199681 108 chr1:156905826:C:T 4569_4535_1512_S->N 0.000199681 108 chr1:156906676:G:A 4569_4442_1481_P->L 0.000199681 108 chr1:156907081:T:C 4569_4280_1427_H->R 0.23762 108 chr1:156907091:T:A 4569_4270_1424_M->L 0.000998403 108 chr1:156907097:C:T 4569_4264_1422_V->M 0.000199681 108 chr1:156907115:T:C 4569_4246_1416_S->G 0.40655 108 chr1:156907127:G:A 4569_4234_1412_R->C 0.000199681 108 chr1:156907132:G:A 4569_4229_1410_P->L 0.000399361 108 chr1:156907154:C:A 4569_4207_1403_G->C 0.000199681 108 chr1:156907171:T:G 4569_4190_1397_Q->P 0.000399361 108 chr1:156907216:C:A 4569_4145_1382_S->I 0.000399361 108 chr1:156907232:A:G 4569_4129_1377_S->P 0.000199681 108 chr1:156907247:A:G 4569_4114_1372_S->P 0.000599042 108 chr1:156907264:G:A 4569_4097_1366_P->L 0.000199681 108 chr1:156907271:T:G 4569_4090_1364_S->R 0.000399361 108 chr1:156908225:C:T 4569_4057_1353_G->R 0.000599042 108 chr1:156908231:C:T 4569_4051_1351_E->K 0.000199681 108 chr1:156909352:C:T 4569_3964_1322_V->I 0.000199681 108 chr1:156909391:C:T 4569_3925_1309_E->K 0.000199681 108 chr1:156909477:A:G 4569_3839_1280_M->T 0.000199681 108 chr1:156909496:G:A 4569_3820_1274_R->W 0.000199681 108 chr1:156909561:G:A 4569_3755_1252_S->F 0.000199681 108 chr1:156909619:C:T 4569_3697_1233_D->N 0.000399361 108 chr1:156909624:T:G 4569_3692_1231_E->A 0.000199681 108 chr1:156909672:C:T 4569_3644_1215_S->N 0.000199681 108 chr1:156909684:A:C 4569_3632_1211_L->R 0.000199681 108 chr1:156910011:C:T 4569_3601_1201_A->T 0.000399361 108 chr1:156910075:C:G 4569_3537_1179_R->S 0.000199681 108 chr1:156911699:G:A 4569_3289_1097_P->S 0.00139776 108 chr1:156911718:C:T 4569_3270_1090_M->I 0.00459265 108 chr1:156911732:C:T 4569_3256_1086_G->R 0.000399361 108 chr1:156911758:G:A 4569_3230_1077_A->V 0.000199681 108 chr1:156913845:C:G 4569_2997_999_Q->H 0.000399361 108 chr1:156914186:G:C 4569_2911_971_P->A 0.000199681 108 chr1:156916516:T:C 4569_2512_838_I->V 0.000399361 108 chr1:156916559:C:G 4569_2469_823_E->D 0.000199681 108 chr1:156916729:C:T 4569_2447_816_R->Q 0.000199681 108 chr1:156917570:C:T 4569_2212_738_V->I 0.000199681 108 chr1:156917578:C:T 4569_2204_735_R->Q 0.000199681 108 chr1:156917650:G:C 4569_2132_711_P->R 0.000199681 108 chr1:156917663:G:C 4569_2119_707_L->V 0.000199681 108 chr1:156917695:A:G 4569_2087_696_L->P 0.000199681 108 chr1:156917976:C:T 4569_2030_677_R->H 0.000199681 108 chr1:156917977:G:A 4569_2029_677_R->C 0.00139776 108 chr1:156918015:A:G 4569_1991_664_L->P 0.000599042 108 chr1:156918157:G:A 4569_1939_647_R->C 0.000199681 108 chr1:156918160:T:C 4569_1936_646_T->A 0.000199681 108 chr1:156918196:G:A 4569_1900_634_R->C 0.000199681 108 chr1:156918285:C:T 4569_1811_604_R->H 0.000199681 108 chr1:156921399:C:T 4569_1771_591_G->R 0.000199681 108 chr1:156925587:C:T 4569_1556_519_S->N 0.000199681 108 chr1:156926327:T:C 4569_1436_479_Y->C 0.000199681 108 chr1:156926340:C:T 4569_1423_475_A->T 0.000199681 108 chr1:156928561:T:C 4569_1355_452_K->R 0.000199681 108 chr1:156928576:C:T 4569_1340_447_R->H 0.00159744 108 chr1:156928592:C:A 4569_1324_442_D->Y 0.000199681 108 chr1:156928654:G:A 4569_1262_421_T->M 0.000798722 108 chr1:156928878:C:T 4569_1219_407_A->T 0.000199681 108 chr1:156928914:C:T 4569_1183_395_E->K 0.000199681 108 chr1:156931555:A:G 4569_1033_345_C->R 0.000399361 108 chr1:156933019:G:C 4569_996_332_F->L 0.000399361 108 chr1:156933385:C:T 4569_845_282_G->D 0.000199681 108 chr1:156937787:C:T 4569_835_279_G->S 0.000199681 108 chr1:156937883:G:C 4569_739_247_P->A 0.000199681 108 chr1:156937903:C:T 4569_719_240_R->Q 0.000199681 108 chr1:156939103:C:G 4569_676_226_G->R 0.000199681 108 chr1:156939114:C:T 4569_665_222_G->D 0.000798722 108 chr1:156939148:G:A 4569_631_211_R->W 0.00379393 108 chr1:156939834:T:C 4569_584_195_D->G 0.000199681 108 chr1:156948127:T:C 4569_379_127_M->V 0.000798722 108 chr1:156950239:C:T 4569_263_88_R->Q 0.000199681 108 chr1:156950263:T:G 4569_239_80_K->T 0.000199681 108 chr1:156954136:C:T 4569_218_73_R->Q 0.000399361 108 chr1:156954154:A:C 4569_200_67_V->G 0.000199681 108 chr1:156954161:G:A 4569_193_65_R->C 0.000199681 108 chr1:156955879:G:C 4569_119_40_T->R 0.000199681 108 chr1:156955900:T:C 4569_98_33_Q->R 0.000199681 108 chr1:156955939:T:C 4569_59_20_D->G 0.000199681 108 na12878 Variants: 108 chr1:156907081:T:C 4569_4280_1427_H->R 108 snyder Variants: 108 chr1:156907081:T:C 4569_4280_1427_H->R 108 chr1:156907115:T:C 4569_4246_1416_S->G 109 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000081248_ENST00000362061 gene_Name: CAC1S_HUMAN 109 list of pdbs: 109 2VAY pdb_description: 16-Sep-08 X-ray 1.940 Calmodulin complexed with cav1.1 iq peptide 109 Zimmer Variants: 109 chr1:201016296:G:A 5622_4615_1539_R->C 109 HGMD Variants: 109 chr1:201031077:C:T 5622_3048_1016_W->* 109 chr1:201009066:G:A 5622_5515_1839_P->S 109 chr1:201020165:T:A 5622_4060_1354_T->S 109 chr1:201022658:T:C 5622_3724_1242_R->G 109 chr1:201022666:C:T 5622_3716_1239_R->H 109 chr1:201022667:G:C 5622_3715_1239_R->G 109 chr1:201029943:C:T 5622_3257_1086_R->H 109 chr1:201029944:G:T 5622_3256_1086_R->S 109 chr1:201029944:G:A 5622_3256_1086_R->C 109 chr1:201031099:G:T 5622_3026_1009_T->K 109 chr1:201031189:T:C 5622_2936_979_D->G 109 chr1:201035402:C:A 5622_2700_900_R->S 109 chr1:201035404:T:C 5622_2698_900_R->G 109 chr1:201035411:C:A 5622_2691_897_R->S 109 chr1:201036045:A:T 5622_2627_876_V->E 109 chr1:201038650:C:T 5622_2440_814_A->T 109 chr1:201043650:G:A 5622_2047_683_R->C 109 chr1:201046058:C:T 5622_1817_606_S->N 109 chr1:201047043:C:T 5622_1583_528_R->H 109 chr1:201047044:G:A 5622_1582_528_R->C 109 chr1:201047044:G:C 5622_1582_528_R->G 109 chr1:201047133:C:A 5622_1493_498_R->L 109 chr1:201047133:C:T 5622_1493_498_R->H 109 chr1:201061121:G:A 5622_520_174_R->W 109 oneKG Variants: 109 chr1:201010662:G:A 5622_5104_1702_R->* 0.000199681 109 chr1:201019600:G:T 5622_4158_1386_Y->* 0.000199681 109 chr1:201009006:C:T 5622_5575_1859_D->N 0.000199681 109 chr1:201009011:C:T 5622_5570_1857_S->N 0.00119808 109 chr1:201009027:C:T 5622_5554_1852_G->R 0.000199681 109 chr1:201009050:C:G 5622_5531_1844_S->T 0.000399361 109 chr1:201009065:G:A 5622_5516_1839_P->L 0.000199681 109 chr1:201009066:G:A 5622_5515_1839_P->S 0.00119808 109 chr1:201009071:T:G 5622_5510_1837_E->A 0.000199681 109 chr1:201009182:A:G 5622_5399_1800_L->S 0.229233 109 chr1:201009200:C:T 5622_5381_1794_R->Q 0.000399361 109 chr1:201009430:G:A 5622_5299_1767_P->S 0.000199681 109 chr1:201009438:T:A 5622_5291_1764_E->V 0.000199681 109 chr1:201009439:C:T 5622_5290_1764_E->K 0.000199681 109 chr1:201009450:C:G 5622_5279_1760_G->A 0.000199681 109 chr1:201009761:C:T 5622_5215_1739_A->T 0.000199681 109 chr1:201010661:C:T 5622_5105_1702_R->Q 0.000399361 109 chr1:201010679:G:A 5622_5087_1696_T->M 0.00179712 109 chr1:201012461:C:T 5622_4996_1666_A->T 0.000399361 109 chr1:201012484:C:T 5622_4973_1658_R->H 0.0996406 109 chr1:201012485:G:A 5622_4972_1658_R->C 0.000199681 109 chr1:201012502:C:T 5622_4955_1652_R->H 0.000199681 109 chr1:201012503:G:A 5622_4954_1652_R->C 0.000199681 109 chr1:201012541:T:A 5622_4916_1639_E->V 0.000199681 109 chr1:201012574:A:G 5622_4883_1628_L->P 0.000199681 109 chr1:201012575:G:A 5622_4882_1628_L->F 0.000199681 109 chr1:201012599:G:C 5622_4858_1620_P->A 0.000199681 109 chr1:201013506:C:T 5622_4747_1583_E->K 0.000798722 109 chr1:201013535:G:A 5622_4718_1573_T->M 0.000399361 109 chr1:201013548:C:T 5622_4705_1569_E->K 0.000199681 109 chr1:201016287:C:T 5622_4624_1542_E->K 0.000199681 109 chr1:201016296:G:A 5622_4615_1539_R->C 0.0840655 109 chr1:201016734:C:T 5622_4462_1488_E->K 0.000599042 109 chr1:201017733:G:A 5622_4418_1473_T->M 0.000199681 109 chr1:201017806:C:T 5622_4345_1449_V->M 0.000199681 109 chr1:201019587:A:G 5622_4171_1391_W->R 0.000199681 109 chr1:201020127:C:T 5622_4098_1366_M->I 0.000199681 109 chr1:201020165:T:A 5622_4060_1354_T->S 0.000798722 109 chr1:201020200:G:A 5622_4025_1342_S->L 0.000199681 109 chr1:201021733:C:T 5622_3905_1302_R->Q 0.000199681 109 chr1:201022387:C:T 5622_3811_1271_A->T 0.00499201 109 chr1:201022621:C:T 5622_3761_1254_R->Q 0.00139776 109 chr1:201022622:G:C 5622_3760_1254_R->G 0.000199681 109 chr1:201023635:C:T 5622_3664_1222_V->I 0.000399361 109 chr1:201027561:A:G 5622_3584_1195_I->T 0.000199681 109 chr1:201028417:T:G 5622_3425_1142_Q->P 0.000599042 109 chr1:201029787:T:C 5622_3413_1138_Q->R 0.000199681 109 chr1:201029866:A:C 5622_3334_1112_W->G 0.000399361 109 chr1:201029869:C:T 5622_3331_1111_V->M 0.000199681 109 chr1:201029913:C:T 5622_3287_1096_R->H 0.000199681 109 chr1:201029944:G:T 5622_3256_1086_R->S 0.000199681 109 chr1:201030410:C:G 5622_3240_1080_E->D 0.000199681 109 chr1:201030526:C:T 5622_3124_1042_A->T 0.000199681 109 chr1:201030582:G:A 5622_3068_1023_A->V 0.000199681 109 chr1:201030583:C:T 5622_3067_1023_A->T 0.000399361 109 chr1:201031082:C:T 5622_3043_1015_G->R 0.000199681 109 chr1:201031114:A:G 5622_3011_1004_M->T 0.000199681 109 chr1:201031133:C:T 5622_2992_998_D->N 0.00199681 109 chr1:201031165:T:C 5622_2960_987_H->R 0.000399361 109 chr1:201031168:C:T 5622_2957_986_R->H 0.000599042 109 chr1:201031612:T:C 5622_2884_962_K->E 0.000199681 109 chr1:201034980:C:T 5622_2839_947_V->I 0.000199681 109 chr1:201034983:C:T 5622_2836_946_G->S 0.000199681 109 chr1:201035046:T:C 5622_2773_925_I->V 0.000199681 109 chr1:201035052:C:T 5622_2767_923_V->M 0.000399361 109 chr1:201035410:C:G 5622_2692_898_V->L 0.000199681 109 chr1:201035440:T:C 5622_2662_888_S->G 0.000199681 109 chr1:201036025:T:C 5622_2647_883_M->V 0.000399361 109 chr1:201036037:A:G 5622_2635_879_S->P 0.000199681 109 chr1:201036040:C:T 5622_2632_878_V->M 0.000199681 109 chr1:201036078:C:T 5622_2594_865_R->H 0.000199681 109 chr1:201036079:G:A 5622_2593_865_R->C 0.000199681 109 chr1:201038610:A:G 5622_2480_827_M->T 0.0111821 109 chr1:201038623:G:A 5622_2467_823_R->W 0.000199681 109 chr1:201038637:G:A 5622_2453_818_A->V 0.000199681 109 chr1:201038650:C:T 5622_2440_814_A->T 0.000798722 109 chr1:201038683:T:C 5622_2407_803_N->D 0.000199681 109 chr1:201038725:G:A 5622_2365_789_R->C 0.000199681 109 chr1:201039417:G:C 5622_2343_781_I->M 0.000199681 109 chr1:201039443:T:C 5622_2317_773_I->V 0.000199681 109 chr1:201039502:G:A 5622_2258_753_P->L 0.000399361 109 chr1:201042735:G:A 5622_2099_700_T->M 0.000199681 109 chr1:201043650:G:A 5622_2047_683_R->C 0.0107827 109 chr1:201043746:T:G 5622_1951_651_I->L 0.000199681 109 chr1:201044635:C:T 5622_1936_646_V->I 0.000399361 109 chr1:201044656:T:C 5622_1915_639_I->V 0.000399361 109 chr1:201044667:A:G 5622_1904_635_M->T 0.000199681 109 chr1:201044668:T:C 5622_1903_635_M->V 0.000399361 109 chr1:201044682:G:A 5622_1889_630_P->L 0.000399361 109 chr1:201044698:T:C 5622_1873_625_M->V 0.000199681 109 chr1:201046058:C:T 5622_1817_606_S->N 0.00479233 109 chr1:201046062:T:C 5622_1813_605_I->V 0.000199681 109 chr1:201046130:C:T 5622_1745_582_G->E 0.000199681 109 chr1:201046164:C:T 5622_1711_571_V->I 0.00159744 109 chr1:201046205:C:T 5622_1670_557_R->H 0.000599042 109 chr1:201047050:C:T 5622_1576_526_V->M 0.000199681 109 chr1:201047069:C:T 5622_1557_519_M->I 0.000199681 109 chr1:201047079:G:A 5622_1547_516_S->L 0.000998403 109 chr1:201047107:C:T 5622_1519_507_G->S 0.000199681 109 chr1:201047133:C:A 5622_1493_498_R->L 0.000599042 109 chr1:201047134:G:A 5622_1492_498_R->C 0.000199681 109 chr1:201052310:A:T 5622_1373_458_L->H 0.127196 109 chr1:201052359:C:T 5622_1324_442_V->I 0.000399361 109 chr1:201054153:A:G 5622_1157_386_L->P 0.000199681 109 chr1:201054159:C:T 5622_1151_384_G->E 0.000199681 109 chr1:201054565:T:G 5622_1149_383_E->D 0.000199681 109 chr1:201054582:C:T 5622_1132_378_V->I 0.000199681 109 chr1:201054587:A:G 5622_1127_376_M->T 0.000199681 109 chr1:201054602:G:A 5622_1112_371_T->M 0.000798722 109 chr1:201054624:G:A 5622_1090_364_R->W 0.000199681 109 chr1:201058391:A:G 5622_895_299_Y->H 0.00479233 109 chr1:201058502:G:A 5622_784_262_R->W 0.000399361 109 chr1:201058513:C:T 5622_773_258_G->D 0.00379393 109 chr1:201058520:T:C 5622_766_256_I->V 0.000199681 109 chr1:201058543:G:A 5622_743_248_T->M 0.000399361 109 chr1:201058586:C:T 5622_700_234_V->M 0.000199681 109 chr1:201060816:C:T 5622_646_216_E->K 0.000199681 109 chr1:201060864:C:T 5622_598_200_A->T 0.000199681 109 chr1:201061111:G:A 5622_530_177_S->L 0.000399361 109 chr1:201061115:C:A 5622_526_176_V->L 0.000199681 109 chr1:201061196:T:C 5622_445_149_T->A 0.000199681 109 chr1:201063014:G:T 5622_394_132_L->M 0.00239617 109 chr1:201063025:G:C 5622_383_128_T->S 0.00259585 109 chr1:201063041:T:C 5622_367_123_N->D 0.116813 109 chr1:201063124:A:G 5622_284_95_I->T 0.000199681 109 chr1:201079344:G:C 5622_206_69_A->G 0.0225639 109 chr1:201079386:G:A 5622_164_55_T->M 0.000199681 109 chr1:201079388:C:A 5622_162_54_E->D 0.000199681 109 chr1:201081320:A:G 5622_148_50_W->R 0.000199681 109 chr1:201081328:A:G 5622_140_47_I->T 0.000199681 109 chr1:201081375:C:G 5622_93_31_L->F 0.000199681 109 chr1:201081383:G:A 5622_85_29_R->W 0.000199681 109 chr1:201081455:A:G 5622_13_5_S->P 0.000199681 109 chr1:201081467:T:C 5622_1_1_M->V 0.000199681 109 na12878 Variants: 109 chr1:201052310:A:T 5622_1373_458_L->H 109 snyder Variants: 109 chr1:201009182:A:G 5622_5399_1800_L->S 110 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143850_ENST00000272203 gene_Name: PKHA6_HUMAN 110 list of pdbs: 110 2YRY pdb_description: 09-Oct-07 NMR 20 Solution structure of the ph domain of pleckstrin homology domain-containing family a member 6 from human 110 2D9Y pdb_description: 13-Jun-06 NMR 20 Solution structure of the ph domain of pepp-3 from human 110 Zimmer Variants: 110 chr1:204199614:C:T 3147_2510_837_R->K 110 chr1:204237416:C:T 3147_127_43_V->I 110 HGMD Variants: 110 chr1:204236636:C:T 3147_247_83_V->I 110 oneKG Variants: 110 chr1:204192624:C:T 3147_3121_1041_D->N 0.000199681 110 chr1:204192632:C:T 3147_3113_1038_R->Q 0.000199681 110 chr1:204192633:G:A 3147_3112_1038_R->W 0.000199681 110 chr1:204192659:G:A 3147_3086_1029_A->V 0.00239617 110 chr1:204192666:G:A 3147_3079_1027_P->S 0.000399361 110 chr1:204197241:C:T 3147_3001_1001_E->K 0.000399361 110 chr1:204197246:G:A 3147_2996_999_A->V 0.000199681 110 chr1:204197304:C:T 3147_2938_980_D->N 0.000199681 110 chr1:204197313:C:T 3147_2929_977_V->M 0.000399361 110 chr1:204197334:C:T 3147_2908_970_G->S 0.000599042 110 chr1:204197346:C:T 3147_2896_966_V->M 0.000199681 110 chr1:204197956:G:A 3147_2785_929_R->W 0.000199681 110 chr1:204198104:C:A 3147_2712_904_E->D 0.000199681 110 chr1:204198210:T:G 3147_2606_869_H->P 0.000399361 110 chr1:204198225:C:T 3147_2591_864_R->H 0.000199681 110 chr1:204199587:G:A 3147_2537_846_P->L 0.000199681 110 chr1:204199599:C:T 3147_2525_842_S->N 0.000199681 110 chr1:204199614:C:T 3147_2510_837_R->K 0.489417 110 chr1:204199635:C:T 3147_2489_830_R->Q 0.000399361 110 chr1:204199644:C:T 3147_2480_827_R->Q 0.000199681 110 chr1:204210535:C:T 3147_2377_793_A->T 0.000199681 110 chr1:204210592:G:A 3147_2320_774_R->W 0.000199681 110 chr1:204210604:C:T 3147_2308_770_V->I 0.000998403 110 chr1:204210936:C:T 3147_2179_727_A->T 0.000199681 110 chr1:204214011:G:A 3147_2153_718_T->I 0.000399361 110 chr1:204214057:G:A 3147_2107_703_P->S 0.000199681 110 chr1:204214092:G:A 3147_2072_691_P->L 0.000399361 110 chr1:204214757:G:A 3147_2018_673_T->I 0.000199681 110 chr1:204214766:C:T 3147_2009_670_G->D 0.000199681 110 chr1:204214769:C:T 3147_2006_669_R->Q 0.000199681 110 chr1:204214839:G:A 3147_1936_646_R->W 0.000199681 110 chr1:204216497:G:A 3147_1916_639_T->I 0.000199681 110 chr1:204216507:T:C 3147_1906_636_N->D 0.000199681 110 chr1:204216563:T:C 3147_1850_617_Y->C 0.000199681 110 chr1:204216581:G:C 3147_1832_611_T->R 0.000599042 110 chr1:204217972:C:T 3147_1801_601_V->M 0.000199681 110 chr1:204218082:G:A 3147_1691_564_A->V 0.000399361 110 chr1:204218340:C:T 3147_1646_549_R->Q 0.000998403 110 chr1:204218355:A:G 3147_1631_544_V->A 0.000399361 110 chr1:204219689:G:A,T 3147_1578_526_N->K 0.000998403 110 chr1:204226541:A:C 3147_1464_488_S->R 0.000599042 110 chr1:204226549:G:A 3147_1456_486_P->S 0.000399361 110 chr1:204226566:C:T 3147_1439_480_R->H 0.000199681 110 chr1:204226599:C:T 3147_1406_469_R->H 0.000199681 110 chr1:204226605:C:T 3147_1400_467_R->H 0.000399361 110 chr1:204226668:C:A 3147_1337_446_R->L 0.000599042 110 chr1:204226719:C:T 3147_1286_429_R->Q 0.00119808 110 chr1:204226755:C:T 3147_1250_417_R->Q 0.000199681 110 chr1:204226775:C:A 3147_1230_410_K->N 0.000599042 110 chr1:204226803:C:A 3147_1202_401_G->V 0.000199681 110 chr1:204226807:C:T 3147_1198_400_G->S 0.000199681 110 chr1:204226861:G:A 3147_1144_382_R->W 0.000199681 110 chr1:204226947:G:T 3147_1058_353_P->H 0.000199681 110 chr1:204226972:G:A 3147_1033_345_R->C 0.000199681 110 chr1:204228488:C:T 3147_905_302_R->H 0.00179712 110 chr1:204228489:G:A 3147_904_302_R->C 0.000199681 110 chr1:204228503:C:T 3147_890_297_R->Q 0.000399361 110 chr1:204228561:T:A 3147_832_278_S->C 0.000199681 110 chr1:204228744:C:T 3147_649_217_E->K 0.000199681 110 chr1:204228843:C:T 3147_550_184_V->I 0.000998403 110 chr1:204230441:G:A 3147_517_173_R->W 0.00219649 110 chr1:204230464:T:C 3147_494_165_Q->R 0.000199681 110 chr1:204230485:C:T 3147_473_158_R->Q 0.000399361 110 chr1:204230528:C:T 3147_430_144_E->K 0.000199681 110 chr1:204230576:C:T 3147_382_128_A->T 0.00159744 110 chr1:204234137:G:A 3147_314_105_P->L 0.000199681 110 chr1:204236624:G:A 3147_259_87_R->C 0.000199681 110 chr1:204237368:G:A 3147_175_59_P->S 0.000199681 110 chr1:204237416:C:T 3147_127_43_V->I 0.367412 110 chr1:204237434:G:A 3147_109_37_R->C 0.000199681 110 chr1:204242755:C:G 3147_101_34_R->P 0.000199681 110 chr1:204242756:G:A 3147_100_34_R->W 0.000199681 110 chr1:204242768:G:A 3147_88_30_R->W 0.000399361 110 chr1:204242799:G:C 3147_57_19_N->K 0.000399361 110 chr1:204242827:G:A 3147_29_10_P->L 0.000199681 110 chr1:204242831:G:A 3147_25_9_R->C 0.000399361 110 chr1:204242837:C:T 3147_19_7_G->R 0.000199681 110 na12878 Variants: 110 chr1:204199614:C:T 3147_2510_837_R->K 110 chr1:204237416:C:T 3147_127_43_V->I 110 snyder Variants: 110 chr1:204237416:C:T 3147_127_43_V->I 111 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000142798_ENST00000374695 gene_Name: PGBM_HUMAN 111 list of pdbs: 111 3SH5 pdb_description: 14-Dec-11 X-ray 2.800 Calcium-bound laminin g like domain 3 from human perlecan 111 3SH4 pdb_description: 14-Dec-11 X-ray 1.500 Laminin g like domain 3 from human perlecan 111 Zimmer Variants: 111 chr1:22150120:C:T 13176_12992_4331_S->N;HUB=PPI;GENE=HSPG2;CDSS=3;DBRECUR=HSPG2 111 chr1:22165987:G:A 13176_9766_3256_H->Y;HUB=PPI;GENE=HSPG2;CDSS=3;DBRECUR=HSPG2 111 chr1:22191454:G:A 13176_4508_1503_A->V;HUB=PPI;GENE=HSPG2;CDSS=3;DBRECUR=HSPG2 111 chr1:22206649:T:C 13176_2294_765_N->S;HUB=PPI;GENE=HSPG2;CDSS=3;DBRECUR=HSPG2 111 chr1:22207235:T:C 13176_1912_638_M->V;HUB=PPI;GENE=HSPG2;CDSS=3;DBRECUR=HSPG2 111 chr1:22168855:G:A 13176_8929_2977_R->W;HUB=PPI;GENE=HSPG2;CDSS=2;DBRECUR=HSPG2 111 chr1:22200998:C:T 13176_3557_1186_R->Q;HUB=PPI;GENE=HSPG2;CDSS=2;DBRECUR=HSPG2 111 HGMD Variants: 111 chr1:22163296:G:A 13176_10354_3452_R->* 111 chr1:22169868:G:A 13176_8680_2894_Q->* 111 chr1:22182082:G:A 13176_5788_1930_Q->* 111 chr1:22203085:G:A 13176_2746_916_R->* 111 chr1:22214488:C:A 13176_646_216_E->* 111 chr1:22159874:C:T 13176_10982_3661_R->Q 111 chr1:22163295:C:T 13176_10355_3452_R->Q 111 chr1:22170696:G:T 13176_8561_2854_A->D 111 chr1:22172601:C:T 13176_8464_2822_A->T 111 chr1:22173966:C:T 13176_8045_2682_R->Q 111 chr1:22186113:T:G 13176_5239_1747_T->P 111 chr1:22190685:G:A 13176_4648_1550_R->C 111 chr1:22191367:C:T 13176_4595_1532_C->Y 111 chr1:22191530:G:A 13176_4432_1478_R->C 111 chr1:22202483:G:A 13176_3056_1019_P->L 111 chr1:22205601:T:C 13176_2357_786_N->S 111 oneKG Variants: 111 chr1:22149831:T:C 13176_13154_4385_N->S 0.000199681 111 chr1:22149838:C:T 13176_13147_4383_G->R 0.000599042 111 chr1:22149840:G:T 13176_13145_4382_A->D 0.000798722 111 chr1:22149849:C:T 13176_13136_4379_R->H 0.000399361 111 chr1:22149850:G:A 13176_13135_4379_R->C 0.000199681 111 chr1:22149897:G:A 13176_13088_4363_S->L 0.00179712 111 chr1:22149907:C:T 13176_13078_4360_V->M 0.000199681 111 chr1:22149915:T:C 13176_13070_4357_K->R 0.000199681 111 chr1:22149967:C:T 13176_13018_4340_V->M 0.000599042 111 chr1:22149979:C:T 13176_13006_4336_G->R 0.000199681 111 chr1:22150118:C:T 13176_12994_4332_V->I 0.0453275 111 chr1:22150120:C:T 13176_12992_4331_S->N 0.176118 111 chr1:22150130:C:T 13176_12982_4328_A->T 0.00119808 111 chr1:22150183:T:G 13176_12929_4310_D->A 0.000399361 111 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0.000199681 111 chr1:22203084:C:T 13176_2747_916_R->Q 0.000199681 111 chr1:22203097:G:A 13176_2734_912_H->Y 0.000199681 111 chr1:22203106:C:T 13176_2725_909_G->S 0.000399361 111 chr1:22203144:T:C 13176_2687_896_N->S 0.000199681 111 chr1:22204944:C:T 13176_2599_867_G->R 0.000199681 111 chr1:22204947:C:T 13176_2596_866_G->S 0.00379393 111 chr1:22205079:C:T 13176_2549_850_R->H 0.000199681 111 chr1:22205083:G:A 13176_2545_849_R->C 0.000199681 111 chr1:22205088:G:A 13176_2540_847_T->I 0.000199681 111 chr1:22205490:C:T 13176_2468_823_R->H 0.000399361 111 chr1:22205496:G:A 13176_2462_821_A->V 0.00259585 111 chr1:22205523:C:T 13176_2435_812_R->Q 0.000199681 111 chr1:22205551:C:T 13176_2407_803_A->T 0.000199681 111 chr1:22205601:T:C 13176_2357_786_N->S 0.00179712 111 chr1:22205607:T:G 13176_2351_784_Q->P 0.000199681 111 chr1:22206608:G:A 13176_2335_779_H->Y 0.000798722 111 chr1:22206617:C:T 13176_2326_776_V->M 0.00199681 111 chr1:22206649:T:C 13176_2294_765_N->S 0.070088 111 chr1:22206664:G:A 13176_2279_760_T->I 0.000199681 111 chr1:22206692:G:A 13176_2251_751_R->W 0.000199681 111 chr1:22206742:G:C 13176_2201_734_P->R 0.000199681 111 chr1:22206890:T:C 13176_2161_721_S->G 0.000199681 111 chr1:22206905:C:T 13176_2146_716_V->I 0.000199681 111 chr1:22206952:G:A 13176_2099_700_T->I 0.000199681 111 chr1:22206977:C:T 13176_2074_692_V->M 0.000199681 111 chr1:22206988:C:G 13176_2063_688_S->T 0.000199681 111 chr1:22207013:C:T 13176_2038_680_A->T 0.00159744 111 chr1:22207017:C:A 13176_2034_678_Q->H 0.00339457 111 chr1:22207024:G:A 13176_2027_676_P->L 0.000199681 111 chr1:22207027:C:T 13176_2024_675_R->Q 0.00179712 111 chr1:22207043:C:T 13176_2008_670_V->I 0.000599042 111 chr1:22207188:T:G 13176_1959_653_Q->H 0.00279553 111 chr1:22207219:C:T 13176_1928_643_R->H 0.000199681 111 chr1:22207235:T:C 13176_1912_638_M->V 0.026358 111 chr1:22207244:C:T 13176_1903_635_V->M 0.000199681 111 chr1:22207303:C:T 13176_1844_615_R->H 0.000399361 111 chr1:22207318:T:C 13176_1829_610_Y->C 0.000599042 111 chr1:22207327:A:G 13176_1820_607_V->A 0.000199681 111 chr1:22207873:C:T 13176_1777_593_D->N 0.000399361 111 chr1:22207915:C:T 13176_1735_579_E->K 0.000199681 111 chr1:22211075:G:A 13176_1600_534_R->C 0.000199681 111 chr1:22211117:G:A 13176_1558_520_P->S 0.000199681 111 chr1:22211126:C:T 13176_1549_517_A->T 0.000599042 111 chr1:22211150:G:A 13176_1525_509_H->Y 0.000399361 111 chr1:22211314:G:A 13176_1453_485_R->W 0.000998403 111 chr1:22211368:G:A 13176_1399_467_R->C 0.000199681 111 chr1:22211395:C:T 13176_1372_458_E->K 0.000199681 111 chr1:22211623:C:T 13176_1238_413_R->Q 0.000998403 111 chr1:22211642:G:T 13176_1219_407_Q->K 0.000199681 111 chr1:22211833:C:G 13176_1190_397_R->P 0.000199681 111 chr1:22211851:T:C 13176_1172_391_E->G 0.000199681 111 chr1:22211881:C:T 13176_1142_381_C->Y 0.000199681 111 chr1:22211941:G:T 13176_1082_361_T->N 0.00199681 111 chr1:22213778:A:T 13176_1008_336_H->Q 0.000199681 111 chr1:22213789:C:T 13176_997_333_G->R 0.000199681 111 chr1:22213794:G:A 13176_992_331_P->L 0.000199681 111 chr1:22213801:C:T 13176_985_329_E->K 0.000199681 111 chr1:22213821:G:A 13176_965_322_P->L 0.000599042 111 chr1:22213929:G:T 13176_942_314_S->R 0.000199681 111 chr1:22213934:C:G 13176_937_313_G->R 0.000199681 111 chr1:22213988:C:T 13176_883_295_G->R 0.000199681 111 chr1:22213993:C:T 13176_878_293_R->H 0.000199681 111 chr1:22214011:G:C 13176_860_287_P->R 0.000199681 111 chr1:22214035:G:C 13176_836_279_S->C 0.00119808 111 chr1:22214036:A:T 13176_835_279_S->T 0.00119808 111 chr1:22214059:G:A 13176_812_271_A->V 0.000199681 111 chr1:22214060:C:T 13176_811_271_A->T 0.000199681 111 chr1:22214080:C:T 13176_791_264_R->Q 0.000199681 111 chr1:22214082:C:T 13176_789_263_M->I 0.00399361 111 chr1:22214086:A:T 13176_785_262_I->N 0.000199681 111 chr1:22214102:G:A 13176_769_257_R->W 0.000199681 111 chr1:22214113:G:C 13176_758_253_S->C 0.000199681 111 chr1:22214119:G:A 13176_752_251_T->M 0.000798722 111 chr1:22214126:C:T 13176_745_249_V->M 0.00179712 111 chr1:22214436:T:C 13176_698_233_N->S 0.00199681 111 chr1:22214452:T:C 13176_682_228_M->V 0.000599042 111 chr1:22214464:C:G 13176_670_224_D->H 0.000199681 111 chr1:22214472:C:T 13176_662_221_R->Q 0.000199681 111 chr1:22214535:G:A 13176_599_200_T->M 0.000199681 111 chr1:22216486:G:A 13176_562_188_R->C 0.000599042 111 chr1:22216534:C:T 13176_514_172_G->S 0.000399361 111 chr1:22216963:A:C 13176_370_124_L->V 0.000199681 111 chr1:22217149:C:G 13176_283_95_E->Q 0.000399361 111 chr1:22217157:C:T 13176_275_92_R->H 0.000199681 111 chr1:22217158:G:A 13176_274_92_R->C 0.000199681 111 chr1:22222455:G:T 13176_204_68_D->E 0.00239617 111 chr1:22222718:T:A 13176_149_50_H->L 0.000998403 111 chr1:22222722:T:C 13176_145_49_T->A 0.000199681 111 chr1:22222728:G:A 13176_139_47_R->C 0.000199681 111 chr1:22263677:C:T 13176_34_12_A->T 0.000199681 111 na12878 Variants: 111 chr1:22191454:G:A 13176_4508_1503_A->V 111 chr1:22206649:T:C 13176_2294_765_N->S 111 chr1:22207235:T:C 13176_1912_638_M->V 111 snyder Variants: 111 chr1:22150120:C:T 13176_12992_4331_S->N 111 chr1:22165987:G:A 13176_9766_3256_H->Y 111 chr1:22206649:T:C 13176_2294_765_N->S 111 chr1:22207235:T:C 13176_1912_638_M->V 111 chr1:22150118:C:T 13176_12994_4332_V->I 112 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143815_ENST00000272163 gene_Name: LBR_HUMAN 112 list of pdbs: 112 2DIG pdb_description: 30-Sep-06 NMR 20 Solusion structure of the todor domain of human lamin-b receptor 112 Zimmer Variants: 112 chr1:225607144:C:T 1848_461_154_S->N 112 HGMD Variants: 112 chr1:225597999:C:T 1848_1308_436_W->* 112 chr1:225599098:G:A 1848_1129_377_R->* 112 chr1:225609919:G:A 1848_226_76_R->* 112 chr1:225591096:C:T 1848_1757_586_R->H 112 chr1:225591105:C:T 1848_1748_583_R->Q 112 chr1:225591147:G:C 1848_1706_569_P->R 112 chr1:225592153:T:C 1848_1640_547_N->S 112 chr1:225592154:T:C 1848_1639_547_N->D 112 chr1:225599113:G:A 1848_1114_372_R->C 112 chr1:225609789:G:A 1848_356_119_P->L 112 oneKG Variants: 112 chr1:225611735:G:A 1848_43_15_R->* 0.000199681 112 chr1:225591096:C:T 1848_1757_586_R->H 0.000199681 112 chr1:225592112:G:C 1848_1681_561_P->A 0.000199681 112 chr1:225592123:G:A 1848_1670_557_A->V 0.000199681 112 chr1:225592184:A:C 1848_1609_537_S->A 0.0071885 112 chr1:225592334:G:C 1848_1558_520_L->V 0.000199681 112 chr1:225592364:C:T 1848_1528_510_A->T 0.00399361 112 chr1:225592389:G:T 1848_1503_501_F->L 0.000399361 112 chr1:225594366:G:A 1848_1483_495_L->F 0.000199681 112 chr1:225594450:T:A 1848_1399_467_I->F 0.000399361 112 chr1:225594518:G:T 1848_1331_444_T->N 0.000399361 112 chr1:225594521:G:A 1848_1328_443_T->M 0.000399361 112 chr1:225598018:T:C 1848_1289_430_Y->C 0.000199681 112 chr1:225598069:C:T 1848_1238_413_R->H 0.000199681 112 chr1:225598070:G:A 1848_1237_413_R->C 0.000798722 112 chr1:225599073:T:C 1848_1154_385_Y->C 0.000199681 112 chr1:225599137:C:T 1848_1090_364_A->T 0.000199681 112 chr1:225600188:G:A 1848_1052_351_A->V 0.000599042 112 chr1:225600245:G:A 1848_995_332_A->V 0.00459265 112 chr1:225600249:G:C 1848_991_331_L->V 0.000199681 112 chr1:225600276:C:T 1848_964_322_V->M 0.000399361 112 chr1:225600281:T:C 1848_959_320_H->R 0.00259585 112 chr1:225600291:C:T 1848_949_317_V->I 0.000199681 112 chr1:225600300:A:G 1848_940_314_F->L 0.000199681 112 chr1:225600309:T:C 1848_931_311_T->A 0.00119808 112 chr1:225600341:T:C 1848_899_300_Y->C 0.000199681 112 chr1:225603006:C:T 1848_866_289_G->E 0.00179712 112 chr1:225603012:A:G 1848_860_287_I->T 0.000199681 112 chr1:225605715:C:T 1848_808_270_V->I 0.000199681 112 chr1:225605780:G:A 1848_743_248_P->L 0.000199681 112 chr1:225605856:G:A 1848_667_223_P->S 0.000199681 112 chr1:225606973:C:T 1848_632_211_G->E 0.000199681 112 chr1:225606976:C:A 1848_629_210_G->V 0.000199681 112 chr1:225607006:G:T 1848_599_200_T->N 0.000199681 112 chr1:225607100:G:A 1848_505_169_R->C 0.000199681 112 chr1:225607106:T:C 1848_499_167_S->G 0.000199681 112 chr1:225607136:G:C 1848_469_157_Q->E 0.000199681 112 chr1:225607144:C:T 1848_461_154_S->N 0.28774 112 chr1:225607469:T:A 1848_398_133_N->I 0.000199681 112 chr1:225607473:A:T 1848_394_132_Y->N 0.000199681 112 chr1:225609819:G:C 1848_326_109_A->G 0.000199681 112 chr1:225609829:T:C 1848_316_106_I->V 0.000199681 112 chr1:225609832:C:T 1848_313_105_D->N 0.000199681 112 chr1:225609839:G:C 1848_306_102_H->Q 0.000199681 112 chr1:225609874:G:A 1848_271_91_P->S 0.000199681 112 chr1:225609913:T:G 1848_232_78_S->R 0.000199681 112 chr1:225611729:G:A 1848_49_17_P->S 0.000199681 112 na12878 Variants: 112 chr1:225607144:C:T 1848_461_154_S->N 112 snyder Variants: 112 chr1:225607144:C:T 1848_461_154_S->N 113 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143815_ENST00000338179 gene_Name: LBR_HUMAN 113 list of pdbs: 113 2DIG pdb_description: 30-Sep-06 NMR 20 Solusion structure of the todor domain of human lamin-b receptor 113 Zimmer Variants: 113 chr1:225607144:C:T 1848_461_154_S->N;HUB=PPI®GNEG=Yes;GENE=LBR;CDSS=3 113 HGMD Variants: 113 chr1:225597999:C:T 1848_1308_436_W->* 113 chr1:225599098:G:A 1848_1129_377_R->* 113 chr1:225609919:G:A 1848_226_76_R->* 113 chr1:225591096:C:T 1848_1757_586_R->H 113 chr1:225591105:C:T 1848_1748_583_R->Q 113 chr1:225591147:G:C 1848_1706_569_P->R 113 chr1:225592153:T:C 1848_1640_547_N->S 113 chr1:225592154:T:C 1848_1639_547_N->D 113 chr1:225599113:G:A 1848_1114_372_R->C 113 chr1:225609789:G:A 1848_356_119_P->L 113 oneKG Variants: 113 chr1:225611735:G:A 1848_43_15_R->* 0.000199681 113 chr1:225591096:C:T 1848_1757_586_R->H 0.000199681 113 chr1:225592112:G:C 1848_1681_561_P->A 0.000199681 113 chr1:225592123:G:A 1848_1670_557_A->V 0.000199681 113 chr1:225592184:A:C 1848_1609_537_S->A 0.0071885 113 chr1:225592334:G:C 1848_1558_520_L->V 0.000199681 113 chr1:225592364:C:T 1848_1528_510_A->T 0.00399361 113 chr1:225592389:G:T 1848_1503_501_F->L 0.000399361 113 chr1:225594366:G:A 1848_1483_495_L->F 0.000199681 113 chr1:225594450:T:A 1848_1399_467_I->F 0.000399361 113 chr1:225594518:G:T 1848_1331_444_T->N 0.000399361 113 chr1:225594521:G:A 1848_1328_443_T->M 0.000399361 113 chr1:225598018:T:C 1848_1289_430_Y->C 0.000199681 113 chr1:225598069:C:T 1848_1238_413_R->H 0.000199681 113 chr1:225598070:G:A 1848_1237_413_R->C 0.000798722 113 chr1:225599073:T:C 1848_1154_385_Y->C 0.000199681 113 chr1:225599137:C:T 1848_1090_364_A->T 0.000199681 113 chr1:225600188:G:A 1848_1052_351_A->V 0.000599042 113 chr1:225600245:G:A 1848_995_332_A->V 0.00459265 113 chr1:225600249:G:C 1848_991_331_L->V 0.000199681 113 chr1:225600276:C:T 1848_964_322_V->M 0.000399361 113 chr1:225600281:T:C 1848_959_320_H->R 0.00259585 113 chr1:225600291:C:T 1848_949_317_V->I 0.000199681 113 chr1:225600300:A:G 1848_940_314_F->L 0.000199681 113 chr1:225600309:T:C 1848_931_311_T->A 0.00119808 113 chr1:225600341:T:C 1848_899_300_Y->C 0.000199681 113 chr1:225603006:C:T 1848_866_289_G->E 0.00179712 113 chr1:225603012:A:G 1848_860_287_I->T 0.000199681 113 chr1:225605715:C:T 1848_808_270_V->I 0.000199681 113 chr1:225605780:G:A 1848_743_248_P->L 0.000199681 113 chr1:225605856:G:A 1848_667_223_P->S 0.000199681 113 chr1:225606973:C:T 1848_632_211_G->E 0.000199681 113 chr1:225606976:C:A 1848_629_210_G->V 0.000199681 113 chr1:225607006:G:T 1848_599_200_T->N 0.000199681 113 chr1:225607100:G:A 1848_505_169_R->C 0.000199681 113 chr1:225607106:T:C 1848_499_167_S->G 0.000199681 113 chr1:225607136:G:C 1848_469_157_Q->E 0.000199681 113 chr1:225607144:C:T 1848_461_154_S->N 0.28774 113 chr1:225607469:T:A 1848_398_133_N->I 0.000199681 113 chr1:225607473:A:T 1848_394_132_Y->N 0.000199681 113 chr1:225609819:G:C 1848_326_109_A->G 0.000199681 113 chr1:225609829:T:C 1848_316_106_I->V 0.000199681 113 chr1:225609832:C:T 1848_313_105_D->N 0.000199681 113 chr1:225609839:G:C 1848_306_102_H->Q 0.000199681 113 chr1:225609874:G:A 1848_271_91_P->S 0.000199681 113 chr1:225609913:T:G 1848_232_78_S->R 0.000199681 113 chr1:225611729:G:A 1848_49_17_P->S 0.000199681 113 na12878 Variants: 113 chr1:225607144:C:T 1848_461_154_S->N 113 snyder Variants: 113 chr1:225607144:C:T 1848_461_154_S->N 114 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000174371_ENST00000366548 gene_Name: EXO1_HUMAN 114 list of pdbs: 114 3QEB pdb_description: 20-Apr-11 X-ray 3.000 Crystal structure of human exonuclease 1 exo1 (wt) in comple and mn2+ (complex iii) 114 3QEA pdb_description: 20-Apr-11 X-ray 3.100 Crystal structure of human exonuclease 1 exo1 (wt) in comple (complex ii) 114 3QE9 pdb_description: 20-Apr-11 X-ray 2.510 Crystal structure of human exonuclease 1 exo1 (d173a) in com DNA (complex i) 114 Zimmer Variants: 114 chr1:242035382:C:T 2541_1316_439_T->M 114 chr1:242042364:A:G 2541_1828_610_S->G 114 chr1:242048674:C:T 2541_2270_757_P->L 114 chr1:242030151:A:G 2541_1061_354_H->R 114 chr1:242042301:G:A 2541_1765_589_E->K 114 chr1:242042545:A:G 2541_2009_670_E->G 114 chr1:242045275:C:T 2541_2167_723_R->C 114 HGMD Variants: 114 chr1:242013807:T:C 2541_80_27_V->A 114 chr1:242016703:G:A 2541_325_109_E->K 114 chr1:242023898:A:G 2541_836_279_N->S 114 chr1:242030319:T:G 2541_1229_410_L->R 114 chr1:242042301:G:A 2541_1765_589_E->K 114 chr1:242042364:A:G 2541_1828_610_S->G 114 chr1:242042454:C:G 2541_1918_640_P->A 114 chr1:242042454:C:T 2541_1918_640_P->S 114 chr1:242048674:C:T 2541_2270_757_P->L 114 chr1:242048680:G:A 2541_2276_759_G->E 114 chr1:242048713:C:T 2541_2309_770_P->L 114 oneKG Variants: 114 chr1:242030255:C:T 2541_1165_389_Q->* 0.000199681 114 chr1:242042436:C:T 2541_1900_634_R->* 0.000199681 114 chr1:242045260:C:T 2541_2152_718_Q->* 0.000199681 114 chr1:242013836:A:G 2541_109_37_K->E 0.000199681 114 chr1:242015658:G:A 2541_226_76_V->I 0.00858626 114 chr1:242015699:G:C 2541_267_89_E->D 0.000399361 114 chr1:242015704:C:T 2541_272_91_S->F 0.000199681 114 chr1:242015709:A:G 2541_277_93_R->G 0.0113818 114 chr1:242015712:G:C 2541_280_94_E->Q 0.000199681 114 chr1:242016700:C:T 2541_322_108_R->C 0.000399361 114 chr1:242016705:G:C 2541_327_109_E->D 0.000199681 114 chr1:242020650:G:T 2541_409_137_A->S 0.000399361 114 chr1:242020670:T:A 2541_429_143_D->E 0.000599042 114 chr1:242020708:C:T 2541_467_156_A->V 0.000199681 114 chr1:242021827:A:G 2541_563_188_Q->R 0.000199681 114 chr1:242021896:C:T 2541_632_211_T->M 0.000199681 114 chr1:242022009:G:A 2541_745_249_D->N 0.000798722 114 chr1:242023855:A:G 2541_793_265_I->V 0.000199681 114 chr1:242023871:A:T 2541_809_270_D->V 0.000399361 114 chr1:242023882:G:A 2541_820_274_G->R 0.000998403 114 chr1:242023898:A:G 2541_836_279_N->S 0.0125799 114 chr1:242023958:A:G 2541_896_299_N->S 0.0071885 114 chr1:242023981:C:T 2541_919_307_P->S 0.000399361 114 chr1:242024754:G:T 2541_991_331_D->Y 0.000199681 114 chr1:242030135:G:A 2541_1045_349_A->T 0.000399361 114 chr1:242030136:C:T 2541_1046_349_A->V 0.000199681 114 chr1:242030151:A:G 2541_1061_354_H->R 0.363019 114 chr1:242030309:G:C 2541_1219_407_G->R 0.000199681 114 chr1:242030331:C:T 2541_1241_414_S->L 0.000199681 114 chr1:242035334:C:A 2541_1268_423_A->E 0.00139776 114 chr1:242035382:C:T 2541_1316_439_T->M 0.0854633 114 chr1:242035403:G:A 2541_1337_446_S->N 0.00139776 114 chr1:242035430:T:C 2541_1364_455_F->S 0.00139776 114 chr1:242035433:C:A 2541_1367_456_S->Y 0.00439297 114 chr1:242035438:G:A 2541_1372_458_V->M 0.0898562 114 chr1:242035444:G:C 2541_1378_460_V->L 0.0091853 114 chr1:242035514:T:G 2541_1448_483_F->C 0.000798722 114 chr1:242042055:T:G 2541_1519_507_F->V 0.000199681 114 chr1:242042131:A:G 2541_1595_532_D->G 0.000199681 114 chr1:242042169:C:G 2541_1633_545_Q->E 0.000199681 114 chr1:242042205:C:T 2541_1669_557_R->C 0.000199681 114 chr1:242042206:G:A 2541_1670_557_R->H 0.00119808 114 chr1:242042301:G:A 2541_1765_589_E->K 0.351637 114 chr1:242042311:A:G 2541_1775_592_K->R 0.000199681 114 chr1:242042362:T:G 2541_1826_609_F->C 0.000199681 114 chr1:242042364:A:G 2541_1828_610_S->G 0.000998403 114 chr1:242042374:G:C 2541_1838_613_G->A 0.00119808 114 chr1:242042437:G:A 2541_1901_634_R->Q 0.00139776 114 chr1:242042442:A:C 2541_1906_636_K->Q 0.000199681 114 chr1:242042443:A:G 2541_1907_636_K->R 0.000199681 114 chr1:242042454:C:G,T 2541_1918_640_P->A 0.000399361 114 chr1:242042454:C:G,T 2541_1918_640_P->S 0.000399361 114 chr1:242042505:G:A 2541_1969_657_E->K 0.000199681 114 chr1:242042539:G:A 2541_2003_668_R->Q 0.000399361 114 chr1:242042545:A:G 2541_2009_670_E->G 0.318091 114 chr1:242042554:C:T 2541_2018_673_S->F 0.000199681 114 chr1:242042578:A:G 2541_2042_681_E->G 0.000199681 114 chr1:242045263:A:G 2541_2155_719_T->A 0.000199681 114 chr1:242045275:C:T 2541_2167_723_R->C 0.084665 114 chr1:242048652:C:T 2541_2248_750_L->F 0.000199681 114 chr1:242048674:C:T 2541_2270_757_P->L 0.251597 114 chr1:242048680:G:A 2541_2276_759_G->E 0.00379393 114 chr1:242048686:C:G 2541_2282_761_A->G 0.000199681 114 chr1:242052841:C:T 2541_2480_827_A->V 0.000399361 114 na12878 Variants: 114 chr1:242023898:A:G 2541_836_279_N->S 114 chr1:242048674:C:T 2541_2270_757_P->L 114 chr1:242030151:A:G 2541_1061_354_H->R 114 chr1:242035438:G:A 2541_1372_458_V->M 114 chr1:242042545:A:G 2541_2009_670_E->G 114 chr1:242045275:C:T 2541_2167_723_R->C 114 snyder Variants: 114 chr1:242035382:C:T 2541_1316_439_T->M 114 chr1:242048674:C:T 2541_2270_757_P->L 114 chr1:242030151:A:G 2541_1061_354_H->R 114 chr1:242042301:G:A 2541_1765_589_E->K 114 chr1:242042545:A:G 2541_2009_670_E->G 114 chr1:242045275:C:T 2541_2167_723_R->C 115 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000174371_ENST00000348581 gene_Name: EXO1_HUMAN 115 list of pdbs: 115 3QEB pdb_description: 20-Apr-11 X-ray 3.000 Crystal structure of human exonuclease 1 exo1 (wt) in comple and mn2+ (complex iii) 115 3QEA pdb_description: 20-Apr-11 X-ray 3.100 Crystal structure of human exonuclease 1 exo1 (wt) in comple (complex ii) 115 3QE9 pdb_description: 20-Apr-11 X-ray 2.510 Crystal structure of human exonuclease 1 exo1 (d173a) in com DNA (complex i) 115 Zimmer Variants: 115 chr1:242035382:C:T 2541_1316_439_T->M 115 chr1:242042364:A:G 2541_1828_610_S->G 115 chr1:242048674:C:T 2541_2270_757_P->L 115 chr1:242030151:A:G 2541_1061_354_H->R 115 chr1:242042301:G:A 2541_1765_589_E->K 115 chr1:242042545:A:G 2541_2009_670_E->G 115 chr1:242045275:C:T 2541_2167_723_R->C 115 HGMD Variants: 115 chr1:242013807:T:C 2541_80_27_V->A 115 chr1:242016703:G:A 2541_325_109_E->K 115 chr1:242023898:A:G 2541_836_279_N->S 115 chr1:242030319:T:G 2541_1229_410_L->R 115 chr1:242042301:G:A 2541_1765_589_E->K 115 chr1:242042364:A:G 2541_1828_610_S->G 115 chr1:242042454:C:G 2541_1918_640_P->A 115 chr1:242042454:C:T 2541_1918_640_P->S 115 chr1:242048674:C:T 2541_2270_757_P->L 115 chr1:242048680:G:A 2541_2276_759_G->E 115 chr1:242048713:C:T 2541_2309_770_P->L 115 oneKG Variants: 115 chr1:242030255:C:T 2541_1165_389_Q->* 0.000199681 115 chr1:242042436:C:T 2541_1900_634_R->* 0.000199681 115 chr1:242045260:C:T 2541_2152_718_Q->* 0.000199681 115 chr1:242013836:A:G 2541_109_37_K->E 0.000199681 115 chr1:242015658:G:A 2541_226_76_V->I 0.00858626 115 chr1:242015699:G:C 2541_267_89_E->D 0.000399361 115 chr1:242015704:C:T 2541_272_91_S->F 0.000199681 115 chr1:242015709:A:G 2541_277_93_R->G 0.0113818 115 chr1:242015712:G:C 2541_280_94_E->Q 0.000199681 115 chr1:242016700:C:T 2541_322_108_R->C 0.000399361 115 chr1:242016705:G:C 2541_327_109_E->D 0.000199681 115 chr1:242020650:G:T 2541_409_137_A->S 0.000399361 115 chr1:242020670:T:A 2541_429_143_D->E 0.000599042 115 chr1:242020708:C:T 2541_467_156_A->V 0.000199681 115 chr1:242021827:A:G 2541_563_188_Q->R 0.000199681 115 chr1:242021896:C:T 2541_632_211_T->M 0.000199681 115 chr1:242022009:G:A 2541_745_249_D->N 0.000798722 115 chr1:242023855:A:G 2541_793_265_I->V 0.000199681 115 chr1:242023871:A:T 2541_809_270_D->V 0.000399361 115 chr1:242023882:G:A 2541_820_274_G->R 0.000998403 115 chr1:242023898:A:G 2541_836_279_N->S 0.0125799 115 chr1:242023958:A:G 2541_896_299_N->S 0.0071885 115 chr1:242023981:C:T 2541_919_307_P->S 0.000399361 115 chr1:242024754:G:T 2541_991_331_D->Y 0.000199681 115 chr1:242030135:G:A 2541_1045_349_A->T 0.000399361 115 chr1:242030136:C:T 2541_1046_349_A->V 0.000199681 115 chr1:242030151:A:G 2541_1061_354_H->R 0.363019 115 chr1:242030309:G:C 2541_1219_407_G->R 0.000199681 115 chr1:242030331:C:T 2541_1241_414_S->L 0.000199681 115 chr1:242035334:C:A 2541_1268_423_A->E 0.00139776 115 chr1:242035382:C:T 2541_1316_439_T->M 0.0854633 115 chr1:242035403:G:A 2541_1337_446_S->N 0.00139776 115 chr1:242035430:T:C 2541_1364_455_F->S 0.00139776 115 chr1:242035433:C:A 2541_1367_456_S->Y 0.00439297 115 chr1:242035438:G:A 2541_1372_458_V->M 0.0898562 115 chr1:242035444:G:C 2541_1378_460_V->L 0.0091853 115 chr1:242035514:T:G 2541_1448_483_F->C 0.000798722 115 chr1:242042055:T:G 2541_1519_507_F->V 0.000199681 115 chr1:242042131:A:G 2541_1595_532_D->G 0.000199681 115 chr1:242042169:C:G 2541_1633_545_Q->E 0.000199681 115 chr1:242042205:C:T 2541_1669_557_R->C 0.000199681 115 chr1:242042206:G:A 2541_1670_557_R->H 0.00119808 115 chr1:242042301:G:A 2541_1765_589_E->K 0.351637 115 chr1:242042311:A:G 2541_1775_592_K->R 0.000199681 115 chr1:242042362:T:G 2541_1826_609_F->C 0.000199681 115 chr1:242042364:A:G 2541_1828_610_S->G 0.000998403 115 chr1:242042374:G:C 2541_1838_613_G->A 0.00119808 115 chr1:242042437:G:A 2541_1901_634_R->Q 0.00139776 115 chr1:242042442:A:C 2541_1906_636_K->Q 0.000199681 115 chr1:242042443:A:G 2541_1907_636_K->R 0.000199681 115 chr1:242042454:C:G,T 2541_1918_640_P->A 0.000399361 115 chr1:242042454:C:G,T 2541_1918_640_P->S 0.000399361 115 chr1:242042505:G:A 2541_1969_657_E->K 0.000199681 115 chr1:242042539:G:A 2541_2003_668_R->Q 0.000399361 115 chr1:242042545:A:G 2541_2009_670_E->G 0.318091 115 chr1:242042554:C:T 2541_2018_673_S->F 0.000199681 115 chr1:242042578:A:G 2541_2042_681_E->G 0.000199681 115 chr1:242045263:A:G 2541_2155_719_T->A 0.000199681 115 chr1:242045275:C:T 2541_2167_723_R->C 0.084665 115 chr1:242048652:C:T 2541_2248_750_L->F 0.000199681 115 chr1:242048674:C:T 2541_2270_757_P->L 0.251597 115 chr1:242048680:G:A 2541_2276_759_G->E 0.00379393 115 chr1:242048686:C:G 2541_2282_761_A->G 0.000199681 115 chr1:242052841:C:T 2541_2480_827_A->V 0.000399361 115 na12878 Variants: 115 chr1:242023898:A:G 2541_836_279_N->S 115 chr1:242048674:C:T 2541_2270_757_P->L 115 chr1:242030151:A:G 2541_1061_354_H->R 115 chr1:242035438:G:A 2541_1372_458_V->M 115 chr1:242042545:A:G 2541_2009_670_E->G 115 chr1:242045275:C:T 2541_2167_723_R->C 115 snyder Variants: 115 chr1:242035382:C:T 2541_1316_439_T->M 115 chr1:242048674:C:T 2541_2270_757_P->L 115 chr1:242030151:A:G 2541_1061_354_H->R 115 chr1:242042301:G:A 2541_1765_589_E->K 115 chr1:242042545:A:G 2541_2009_670_E->G 115 chr1:242045275:C:T 2541_2167_723_R->C 116 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000174371_ENST00000518483 gene_Name: EXO1_HUMAN 116 list of pdbs: 116 3QEB pdb_description: 20-Apr-11 X-ray 3.000 Crystal structure of human exonuclease 1 exo1 (wt) in comple and mn2+ (complex iii) 116 3QEA pdb_description: 20-Apr-11 X-ray 3.100 Crystal structure of human exonuclease 1 exo1 (wt) in comple (complex ii) 116 3QE9 pdb_description: 20-Apr-11 X-ray 2.510 Crystal structure of human exonuclease 1 exo1 (d173a) in com DNA (complex i) 116 Zimmer Variants: 116 chr1:242035382:C:T 2412_1316_439_T->M;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=3;DBRECUR=EXO1 116 chr1:242042364:A:G 2412_1828_610_S->G;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=3;DBRECUR=EXO1 116 chr1:242048674:C:T 2412_2270_757_P->L;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=3;DBRECUR=EXO1 116 chr1:242030151:A:G 2412_1061_354_H->R;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=2;DBRECUR=EXO1 116 chr1:242042301:G:A 2412_1765_589_E->K;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=2;DBRECUR=EXO1 116 chr1:242042545:A:G 2412_2009_670_E->G;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=2;DBRECUR=EXO1 116 chr1:242045275:C:T 2412_2167_723_R->C;HUB=PPI;GENE=EXO1;CANG=[DNA_repair];CDSS=2;DBRECUR=EXO1 116 HGMD Variants: 116 chr1:242013807:T:C 2412_80_27_V->A 116 chr1:242016703:G:A 2412_325_109_E->K 116 chr1:242023898:A:G 2412_836_279_N->S 116 chr1:242030319:T:G 2412_1229_410_L->R 116 chr1:242042301:G:A 2412_1765_589_E->K 116 chr1:242042364:A:G 2412_1828_610_S->G 116 chr1:242042454:C:G 2412_1918_640_P->A 116 chr1:242042454:C:T 2412_1918_640_P->S 116 chr1:242048674:C:T 2412_2270_757_P->L 116 chr1:242048680:G:A 2412_2276_759_G->E 116 chr1:242048713:C:T 2412_2309_770_P->L 116 oneKG Variants: 116 chr1:242030255:C:T 2412_1165_389_Q->* 0.000199681 116 chr1:242042436:C:T 2412_1900_634_R->* 0.000199681 116 chr1:242045260:C:T 2412_2152_718_Q->* 0.000199681 116 chr1:242013836:A:G 2412_109_37_K->E 0.000199681 116 chr1:242015658:G:A 2412_226_76_V->I 0.00858626 116 chr1:242015699:G:C 2412_267_89_E->D 0.000399361 116 chr1:242015704:C:T 2412_272_91_S->F 0.000199681 116 chr1:242015709:A:G 2412_277_93_R->G 0.0113818 116 chr1:242015712:G:C 2412_280_94_E->Q 0.000199681 116 chr1:242016700:C:T 2412_322_108_R->C 0.000399361 116 chr1:242016705:G:C 2412_327_109_E->D 0.000199681 116 chr1:242020650:G:T 2412_409_137_A->S 0.000399361 116 chr1:242020670:T:A 2412_429_143_D->E 0.000599042 116 chr1:242020708:C:T 2412_467_156_A->V 0.000199681 116 chr1:242021827:A:G 2412_563_188_Q->R 0.000199681 116 chr1:242021896:C:T 2412_632_211_T->M 0.000199681 116 chr1:242022009:G:A 2412_745_249_D->N 0.000798722 116 chr1:242023855:A:G 2412_793_265_I->V 0.000199681 116 chr1:242023871:A:T 2412_809_270_D->V 0.000399361 116 chr1:242023882:G:A 2412_820_274_G->R 0.000998403 116 chr1:242023898:A:G 2412_836_279_N->S 0.0125799 116 chr1:242023958:A:G 2412_896_299_N->S 0.0071885 116 chr1:242023981:C:T 2412_919_307_P->S 0.000399361 116 chr1:242024754:G:T 2412_991_331_D->Y 0.000199681 116 chr1:242030135:G:A 2412_1045_349_A->T 0.000399361 116 chr1:242030136:C:T 2412_1046_349_A->V 0.000199681 116 chr1:242030151:A:G 2412_1061_354_H->R 0.363019 116 chr1:242030309:G:C 2412_1219_407_G->R 0.000199681 116 chr1:242030331:C:T 2412_1241_414_S->L 0.000199681 116 chr1:242035334:C:A 2412_1268_423_A->E 0.00139776 116 chr1:242035382:C:T 2412_1316_439_T->M 0.0854633 116 chr1:242035403:G:A 2412_1337_446_S->N 0.00139776 116 chr1:242035430:T:C 2412_1364_455_F->S 0.00139776 116 chr1:242035433:C:A 2412_1367_456_S->Y 0.00439297 116 chr1:242035438:G:A 2412_1372_458_V->M 0.0898562 116 chr1:242035444:G:C 2412_1378_460_V->L 0.0091853 116 chr1:242035514:T:G 2412_1448_483_F->C 0.000798722 116 chr1:242042055:T:G 2412_1519_507_F->V 0.000199681 116 chr1:242042131:A:G 2412_1595_532_D->G 0.000199681 116 chr1:242042169:C:G 2412_1633_545_Q->E 0.000199681 116 chr1:242042205:C:T 2412_1669_557_R->C 0.000199681 116 chr1:242042206:G:A 2412_1670_557_R->H 0.00119808 116 chr1:242042301:G:A 2412_1765_589_E->K 0.351637 116 chr1:242042311:A:G 2412_1775_592_K->R 0.000199681 116 chr1:242042362:T:G 2412_1826_609_F->C 0.000199681 116 chr1:242042364:A:G 2412_1828_610_S->G 0.000998403 116 chr1:242042374:G:C 2412_1838_613_G->A 0.00119808 116 chr1:242042437:G:A 2412_1901_634_R->Q 0.00139776 116 chr1:242042442:A:C 2412_1906_636_K->Q 0.000199681 116 chr1:242042443:A:G 2412_1907_636_K->R 0.000199681 116 chr1:242042454:C:G,T 2412_1918_640_P->A,2 0.000399361 116 chr1:242042454:C:G,T 2412_1918_640_P->S 0.000399361 116 chr1:242042505:G:A 2412_1969_657_E->K 0.000199681 116 chr1:242042539:G:A 2412_2003_668_R->Q 0.000399361 116 chr1:242042545:A:G 2412_2009_670_E->G 0.318091 116 chr1:242042554:C:T 2412_2018_673_S->F 0.000199681 116 chr1:242042578:A:G 2412_2042_681_E->G 0.000199681 116 chr1:242045263:A:G 2412_2155_719_T->A 0.000199681 116 chr1:242045275:C:T 2412_2167_723_R->C 0.084665 116 chr1:242048652:C:T 2412_2248_750_L->F 0.000199681 116 chr1:242048674:C:T 2412_2270_757_P->L 0.251597 116 chr1:242048680:G:A 2412_2276_759_G->E 0.00379393 116 chr1:242048686:C:G 2412_2282_761_A->G 0.000199681 116 na12878 Variants: 116 chr1:242023898:A:G 2412_836_279_N->S 116 chr1:242048674:C:T 2412_2270_757_P->L 116 chr1:242030151:A:G 2412_1061_354_H->R 116 chr1:242035438:G:A 2412_1372_458_V->M 116 chr1:242042545:A:G 2412_2009_670_E->G 116 chr1:242045275:C:T 2412_2167_723_R->C 116 snyder Variants: 116 chr1:242035382:C:T 2412_1316_439_T->M 116 chr1:242048674:C:T 2412_2270_757_P->L 116 chr1:242030151:A:G 2412_1061_354_H->R 116 chr1:242042301:G:A 2412_1765_589_E->K 116 chr1:242042545:A:G 2412_2009_670_E->G 116 chr1:242045275:C:T 2412_2167_723_R->C 117 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000185420_ENST00000388985 gene_Name: SMYD3_HUMAN 117 list of pdbs: 117 3RU0 pdb_description: 18-May-11 X-ray 1.850 Cocrystal structure of human smyd3 with inhibitor sinefungin 117 3QWP pdb_description: 06-Apr-11 X-ray 1.530 Crystal structure of set and mynd domain containing 3; zinc mynd domain-containing protein 1 117 3PDN pdb_description: 17-Nov-10 X-ray 1.700 Crystal structure of smyd3 in complex with methyltransferase sinefungin 117 3OXL pdb_description: 23-Feb-11 X-ray 3.600 Human lysine methyltransferase smyd3 in complex with adohcy 117 3OXG pdb_description: 23-Feb-11 X-ray 3.410 Human lysine methyltransferase smyd3 in complex with adohcy 117 3OXF pdb_description: 23-Feb-11 X-ray 2.820 Human lysine methyltransferase smyd3 in complex with adohcy 117 3MEK pdb_description: 14-Apr-10 X-ray 2.100 Crystal structure of human histone-lysine n- methyltransferase smyd3 in complex with s-adenosyl-l- methionine 117 Zimmer Variants: 117 chr1:246670481:C:G 1287_39_13_K->N 117 HGMD Variants: 117 chr1:246021874:C:T 1287_1000_334_A->T 117 oneKG Variants: 117 chr1:246091256:G:A 1287_679_227_R->* 0.000199681 117 chr1:246493784:G:C 1287_392_131_S->* 0.000199681 117 chr1:245912881:T:C 1287_1271_424_N->S 0.00139776 117 chr1:245912882:T:A 1287_1270_424_N->Y 0.000199681 117 chr1:245912915:C:G 1287_1237_413_D->H 0.000199681 117 chr1:245912920:A:G 1287_1232_411_I->T 0.000199681 117 chr1:245912944:G:A 1287_1208_403_T->I 0.000199681 117 chr1:245927401:A:C 1287_1127_376_V->G 0.000199681 117 chr1:245927426:C:T 1287_1102_368_V->I 0.000199681 117 chr1:245927433:G:C 1287_1095_365_S->R 0.000199681 117 chr1:246021850:C:T 1287_1024_342_G->S 0.000399361 117 chr1:246021943:C:T 1287_931_311_A->T 0.000199681 117 chr1:246027147:T:G 1287_855_285_E->D 0.000199681 117 chr1:246027185:C:T 1287_817_273_A->T 0.0 117 chr1:246078851:C:T 1287_794_265_R->H 0.000998403 117 chr1:246078852:G:A 1287_793_265_R->C 0.000399361 117 chr1:246091247:C:T 1287_688_230_E->K 0.000199681 117 chr1:246091255:C:T 1287_680_227_R->Q 0.000199681 117 chr1:246091276:T:C 1287_659_220_H->R 0.000599042 117 chr1:246093208:G:A 1287_563_188_A->V 0.000199681 117 chr1:246498689:C:G 1287_316_106_G->R 0.00179712 117 chr1:246498704:A:T 1287_301_101_S->T 0.000199681 117 chr1:246498722:G:A 1287_283_95_P->S 0.000199681 117 chr1:246498767:A:C 1287_238_80_W->G 0.000199681 117 chr1:246498770:C:T 1287_235_79_A->T 0.000199681 117 chr1:246518355:T:C 1287_206_69_K->R 0.000199681 117 chr1:246518362:C:T 1287_199_67_V->I 0.00139776 117 chr1:246670368:C:A 1287_152_51_R->L 0.000798722 117 chr1:246670481:C:G 1287_39_13_K->N 0.251398 117 chr1:246670512:G:A 1287_8_3_P->L 0.000199681 117 na12878 Variants: 117 chr1:246670481:C:G 1287_39_13_K->N 117 snyder Variants: 117 chr1:246670481:C:G 1287_39_13_K->N 118 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116329_ENST00000234961 gene_Name: OPRD_HUMAN 118 list of pdbs: 118 2IQM pdb_description: 24-Oct-06 Theoret model Model of delta-opioid receptor in active state with agonist 118 1OZC pdb_description: 05-Aug-03 Theoret model Modeling of structure of human delta opioid receptor 118 Zimmer Variants: 118 chr1:29138975:G:T 1119_80_27_C->F;HUB=PPI;GENE=OPRD1;CDSS=3 118 HGMD Variants: 118 chr1:29138975:G:T 1119_80_27_C->F 118 oneKG Variants: 118 chr1:29185579:G:A 1119_341_114_W->* 0.000199681 118 chr1:29138975:G:T 1119_80_27_C->F 0.055511 118 chr1:29139049:A:G 1119_154_52_I->V 0.023762 118 chr1:29185521:G:A 1119_283_95_D->N 0.000199681 118 chr1:29185576:C:G 1119_338_113_T->R 0.000199681 118 chr1:29185587:G:A 1119_349_117_G->S 0.000199681 118 chr1:29185627:A:G 1119_389_130_Y->C 0.000199681 118 chr1:29185664:G:A 1119_426_142_M->I 0.000199681 118 chr1:29185716:C:T 1119_478_160_R->C 0.000199681 118 chr1:29185785:A:G 1119_547_183_I->V 0.000998403 118 chr1:29189424:A:G 1119_748_250_K->E 0.000199681 118 chr1:29189445:C:T 1119_769_257_R->W 0.000199681 118 chr1:29189458:G:T 1119_782_261_R->L 0.000399361 118 chr1:29189487:G:C 1119_811_271_V->L 0.000399361 118 chr1:29189601:G:A 1119_925_309_A->T 0.0171725 118 chr1:29189664:C:T 1119_988_330_R->C 0.000399361 118 chr1:29189778:G:T 1119_1102_368_G->C 0.000199681 118 na12878 Variants: 118 chr1:29138975:G:T 1119_80_27_C->F 118 snyder Variants: 118 chr1:29138975:G:T 1119_80_27_C->F 119 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157193_ENST00000306052 gene_Name: LRP8_HUMAN 119 list of pdbs: 119 3A7Q pdb_description: 23-Mar-10 X-ray 2.600 Structural basis for specific recognition of reelin by its r 119 Zimmer Variants: 119 chr1:53712727:C:T 2892_2855_952_R->Q 119 HGMD Variants: 119 chr1:53712727:C:T 2892_2855_952_R->Q 119 chr1:53792651:A:C 2892_138_46_D->E 119 oneKG Variants: 119 chr1:53712727:C:T 2892_2855_952_R->Q 0.144369 119 chr1:53715125:G:A 2892_2780_927_P->L 0.000199681 119 chr1:53716419:T:G 2892_2619_873_E->D 0.000199681 119 chr1:53720816:C:T 2892_2476_826_A->T 0.000199681 119 chr1:53722932:G:C 2892_2414_805_T->S 0.00139776 119 chr1:53722935:G:T 2892_2411_804_A->E 0.000199681 119 chr1:53722953:G:A,C 2892_2393_798_P->L 0.000399361 119 chr1:53722953:G:A,C 2892_2393_798_P->R 0.000399361 119 chr1:53722984:C:T 2892_2362_788_V->I 0.000199681 119 chr1:53723053:C:T 2892_2293_765_V->I 0.000199681 119 chr1:53723069:T:G 2892_2277_759_R->S 0.000199681 119 chr1:53723115:G:A 2892_2231_744_T->M 0.000199681 119 chr1:53723993:C:T 2892_2207_736_R->Q 0.00519169 119 chr1:53724017:C:G 2892_2183_728_G->A 0.000599042 119 chr1:53724026:A:C 2892_2174_725_M->R 0.000199681 119 chr1:53726247:C:T 2892_1945_649_E->K 0.000199681 119 chr1:53728141:T:C 2892_1751_584_E->G 0.000199681 119 chr1:53728180:T:C 2892_1712_571_N->S 0.000199681 119 chr1:53729844:C:T 2892_1652_551_R->Q 0.000399361 119 chr1:53729863:T:C 2892_1633_545_I->V 0.000199681 119 chr1:53729868:C:T 2892_1628_543_R->Q 0.000199681 119 chr1:53729877:C:T 2892_1619_540_S->N 0.000199681 119 chr1:53729902:G:A 2892_1594_532_R->C 0.000199681 119 chr1:53729904:C:T 2892_1592_531_R->Q 0.000399361 119 chr1:53729949:G:A 2892_1547_516_S->L 0.000199681 119 chr1:53730005:G:T 2892_1491_497_H->Q 0.000399361 119 chr1:53730021:A:G 2892_1475_492_I->T 0.000199681 119 chr1:53730048:C:A 2892_1448_483_S->I 0.000199681 119 chr1:53732157:C:T 2892_1415_472_R->H 0.000199681 119 chr1:53732197:C:T 2892_1375_459_V->I 0.000199681 119 chr1:53732254:G:A 2892_1318_440_R->W 0.0 119 chr1:53732287:G:A 2892_1285_429_R->W 0.000199681 119 chr1:53736720:G:C 2892_1232_411_T->S 0.000199681 119 chr1:53736959:T:C 2892_1066_356_I->V 0.000599042 119 chr1:53737015:A:G 2892_1010_337_L->P 0.000199681 119 chr1:53741410:C:T 2892_899_300_R->H 0.000199681 119 chr1:53742406:C:T 2892_841_281_G->S 0.000199681 119 chr1:53742537:C:T 2892_710_237_R->H 0.00159744 119 chr1:53742538:G:T 2892_709_237_R->S 0.00159744 119 chr1:53742544:C:T 2892_703_235_E->K 0.00279553 119 chr1:53742723:C:T 2892_524_175_G->D 0.00199681 119 chr1:53746270:C:T 2892_485_162_G->D 0.000199681 119 chr1:53746379:C:T 2892_376_126_V->M 0.000199681 119 chr1:53792651:A:C 2892_138_46_D->E 0.449681 119 chr1:53793511:T:C 2892_74_25_Q->R 0.449681 119 na12878 Variants: 119 chr1:53712727:C:T 2892_2855_952_R->Q 119 snyder Variants: 119 chr1:53712727:C:T 2892_2855_952_R->Q 120 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157193_ENST00000371454 gene_Name: LRP8_HUMAN 120 list of pdbs: 120 3A7Q pdb_description: 23-Mar-10 X-ray 2.600 Structural basis for specific recognition of reelin by its r 120 Zimmer Variants: 120 chr1:53712727:C:T 2715_2678_893_R->Q 120 HGMD Variants: 120 chr1:53712727:C:T 2715_2678_893_R->Q 120 chr1:53792651:A:C 2715_138_46_D->E 120 oneKG Variants: 120 chr1:53712727:C:T 2715_2678_893_R->Q 0.144369 120 chr1:53716419:T:G 2715_2619_873_E->D 0.000199681 120 chr1:53720816:C:T 2715_2476_826_A->T 0.000199681 120 chr1:53722932:G:C 2715_2414_805_T->S 0.00139776 120 chr1:53722935:G:T 2715_2411_804_A->E 0.000199681 120 chr1:53722953:G:A,C 2715_2393_798_P->L 0.000399361 120 chr1:53722953:G:A,C 2715_2393_798_P->R 0.000399361 120 chr1:53722984:C:T 2715_2362_788_V->I 0.000199681 120 chr1:53723053:C:T 2715_2293_765_V->I 0.000199681 120 chr1:53723069:T:G 2715_2277_759_R->S 0.000199681 120 chr1:53723115:G:A 2715_2231_744_T->M 0.000199681 120 chr1:53723993:C:T 2715_2207_736_R->Q 0.00519169 120 chr1:53724017:C:G 2715_2183_728_G->A 0.000599042 120 chr1:53724026:A:C 2715_2174_725_M->R 0.000199681 120 chr1:53726247:C:T 2715_1945_649_E->K 0.000199681 120 chr1:53728141:T:C 2715_1751_584_E->G 0.000199681 120 chr1:53728180:T:C 2715_1712_571_N->S 0.000199681 120 chr1:53729844:C:T 2715_1652_551_R->Q 0.000399361 120 chr1:53729863:T:C 2715_1633_545_I->V 0.000199681 120 chr1:53729868:C:T 2715_1628_543_R->Q 0.000199681 120 chr1:53729877:C:T 2715_1619_540_S->N 0.000199681 120 chr1:53729902:G:A 2715_1594_532_R->C 0.000199681 120 chr1:53729904:C:T 2715_1592_531_R->Q 0.000399361 120 chr1:53729949:G:A 2715_1547_516_S->L 0.000199681 120 chr1:53730005:G:T 2715_1491_497_H->Q 0.000399361 120 chr1:53730021:A:G 2715_1475_492_I->T 0.000199681 120 chr1:53730048:C:A 2715_1448_483_S->I 0.000199681 120 chr1:53732157:C:T 2715_1415_472_R->H 0.000199681 120 chr1:53732197:C:T 2715_1375_459_V->I 0.000199681 120 chr1:53732254:G:A 2715_1318_440_R->W 0.0 120 chr1:53732287:G:A 2715_1285_429_R->W 0.000199681 120 chr1:53736720:G:C 2715_1232_411_T->S 0.000199681 120 chr1:53736959:T:C 2715_1066_356_I->V 0.000599042 120 chr1:53737015:A:G 2715_1010_337_L->P,1 0.000199681 120 chr1:53741410:C:T 2715_899_300_R->H 0.000199681 120 chr1:53742406:C:T 2715_841_281_G->S 0.000199681 120 chr1:53742537:C:T 2715_710_237_R->H 0.00159744 120 chr1:53742538:G:T 2715_709_237_R->S 0.00159744 120 chr1:53742544:C:T 2715_703_235_E->K 0.00279553 120 chr1:53742723:C:T 2715_524_175_G->D 0.00199681 120 chr1:53746270:C:T 2715_485_162_G->D 0.000199681 120 chr1:53746379:C:T 2715_376_126_V->M 0.000199681 120 chr1:53792651:A:C 2715_138_46_D->E 0.449681 120 chr1:53793511:T:C 2715_74_25_Q->R 0.449681 120 na12878 Variants: 120 chr1:53712727:C:T 2715_2678_893_R->Q 120 snyder Variants: 120 chr1:53712727:C:T 2715_2678_893_R->Q 121 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157193_ENST00000354412 gene_Name: LRP8_HUMAN 121 list of pdbs: 121 3A7Q pdb_description: 23-Mar-10 X-ray 2.600 Structural basis for specific recognition of reelin by its r 121 Zimmer Variants: 121 chr1:53712727:C:T 2103_2066_689_R->Q 121 HGMD Variants: 121 chr1:53712727:C:T 2103_2066_689_R->Q 121 chr1:53792651:A:C 2103_138_46_D->E 121 oneKG Variants: 121 chr1:53712727:C:T 2103_2066_689_R->Q 0.144369 121 chr1:53716419:T:G 2103_2007_669_E->D 0.000199681 121 chr1:53720816:C:T 2103_1864_622_A->T 0.000199681 121 chr1:53723993:C:T 2103_1820_607_R->Q 0.00519169 121 chr1:53724017:C:G 2103_1796_599_G->A 0.000599042 121 chr1:53724026:A:C 2103_1787_596_M->R 0.000199681 121 chr1:53726247:C:T 2103_1558_520_E->K 0.000199681 121 chr1:53728141:T:C 2103_1364_455_E->G 0.000199681 121 chr1:53728180:T:C 2103_1325_442_N->S 0.000199681 121 chr1:53729844:C:T 2103_1265_422_R->Q 0.000399361 121 chr1:53729863:T:C 2103_1246_416_I->V 0.000199681 121 chr1:53729868:C:T 2103_1241_414_R->Q 0.000199681 121 chr1:53729877:C:T 2103_1232_411_S->N 0.000199681 121 chr1:53729902:G:A 2103_1207_403_R->C 0.000199681 121 chr1:53729904:C:T 2103_1205_402_R->Q 0.000399361 121 chr1:53729949:G:A 2103_1160_387_S->L 0.000199681 121 chr1:53730005:G:T 2103_1104_368_H->Q 0.000399361 121 chr1:53730021:A:G 2103_1088_363_I->T 0.000199681 121 chr1:53730048:C:A 2103_1061_354_S->I 0.000199681 121 chr1:53732157:C:T 2103_1028_343_R->H 0.000199681 121 chr1:53732197:C:T 2103_988_330_V->I 0.000199681 121 chr1:53732254:G:A 2103_931_311_R->W 0.0 121 chr1:53732287:G:A 2103_898_300_R->W 0.000199681 121 chr1:53736720:G:C 2103_845_282_T->S 0.000199681 121 chr1:53736959:T:C 2103_679_227_I->V 0.000599042 121 chr1:53737015:A:G 2103_623_208_L->P 0.000199681 121 chr1:53741410:C:T 2103_512_171_R->H 0.000199681 121 chr1:53746270:C:T 2103_485_162_G->D 0.000199681 121 chr1:53746379:C:T 2103_376_126_V->M 0.000199681 121 chr1:53792651:A:C 2103_138_46_D->E 0.449681 121 chr1:53793511:T:C 2103_74_25_Q->R 0.449681 121 na12878 Variants: 121 chr1:53712727:C:T 2103_2066_689_R->Q 121 snyder Variants: 121 chr1:53712727:C:T 2103_2066_689_R->Q 122 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157193_ENST00000347547 gene_Name: LRP8_HUMAN 122 list of pdbs: 122 3A7Q pdb_description: 23-Mar-10 X-ray 2.600 Structural basis for specific recognition of reelin by its r 122 Zimmer Variants: 122 chr1:53712727:C:T 2382_2345_782_R->Q 122 HGMD Variants: 122 chr1:53712727:C:T 2382_2345_782_R->Q 122 chr1:53792651:A:C 2382_138_46_D->E 122 oneKG Variants: 122 chr1:53712727:C:T 2382_2345_782_R->Q 0.144369 122 chr1:53715125:G:A 2382_2270_757_P->L 0.000199681 122 chr1:53716419:T:G 2382_2109_703_E->D 0.000199681 122 chr1:53720816:C:T 2382_1966_656_A->T 0.000199681 122 chr1:53722932:G:C 2382_1904_635_T->S 0.00139776 122 chr1:53722935:G:T 2382_1901_634_A->E 0.000199681 122 chr1:53722953:G:A,C 2382_1883_628_P->L 0.000399361 122 chr1:53722953:G:A,C 2382_1883_628_P->R 0.000399361 122 chr1:53722984:C:T 2382_1852_618_V->I 0.000199681 122 chr1:53723053:C:T 2382_1783_595_V->I 0.000199681 122 chr1:53723069:T:G 2382_1767_589_R->S 0.000199681 122 chr1:53723115:G:A 2382_1721_574_T->M 0.000199681 122 chr1:53723993:C:T 2382_1697_566_R->Q 0.00519169 122 chr1:53724017:C:G 2382_1673_558_G->A 0.000599042 122 chr1:53724026:A:C 2382_1664_555_M->R 0.000199681 122 chr1:53726247:C:T 2382_1435_479_E->K 0.000199681 122 chr1:53728141:T:C 2382_1241_414_E->G 0.000199681 122 chr1:53728180:T:C 2382_1202_401_N->S 0.000199681 122 chr1:53729844:C:T 2382_1142_381_R->Q 0.000399361 122 chr1:53729863:T:C 2382_1123_375_I->V 0.000199681 122 chr1:53729868:C:T 2382_1118_373_R->Q 0.000199681 122 chr1:53729877:C:T 2382_1109_370_S->N 0.000199681 122 chr1:53729902:G:A 2382_1084_362_R->C 0.000199681 122 chr1:53729904:C:T 2382_1082_361_R->Q 0.000399361 122 chr1:53729949:G:A 2382_1037_346_S->L 0.000199681 122 chr1:53730005:G:T 2382_981_327_H->Q 0.000399361 122 chr1:53730021:A:G 2382_965_322_I->T 0.000199681 122 chr1:53730048:C:A 2382_938_313_S->I 0.000199681 122 chr1:53732157:C:T 2382_905_302_R->H 0.000199681 122 chr1:53732197:C:T 2382_865_289_V->I 0.000199681 122 chr1:53732254:G:A 2382_808_270_R->W 0.0 122 chr1:53732287:G:A 2382_775_259_R->W 0.000199681 122 chr1:53736720:G:C 2382_722_241_T->S 0.000199681 122 chr1:53736959:T:C 2382_556_186_I->V 0.000599042 122 chr1:53737015:A:G 2382_500_167_L->P 0.000199681 122 chr1:53746270:C:T 2382_485_162_G->D 0.000199681 122 chr1:53746379:C:T 2382_376_126_V->M 0.000199681 122 chr1:53792651:A:C 2382_138_46_D->E 0.449681 122 chr1:53793511:T:C 2382_74_25_Q->R 0.449681 122 na12878 Variants: 122 chr1:53712727:C:T 2382_2345_782_R->Q 122 snyder Variants: 122 chr1:53712727:C:T 2382_2345_782_R->Q 123 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169174_ENST00000302118 gene_Name: PCSK9_HUMAN 123 list of pdbs: 123 4K8R pdb_description: 08-May-13 X-ray 3.220 An antibody against thE C-terminal domain of pcsk9 lowers ld cholesterol levels in vivo 123 3SQO pdb_description: 16-May-12 X-ray 2.700 Pcsk9 j16 fab complex 123 3H42 pdb_description: 05-May-09 X-ray 2.300 Crystal structure of pcsk9 in complex with fab from ldlr com antibody 123 2XTJ pdb_description: 03-Nov-10 X-ray 2.700 The crystal structure of pcsk9 in complex with 1d05 fab 123 2QTW pdb_description: 18-Sep-07 X-ray 1.900 The crystal structure of pcsk9 at 1.9 angstroms resolution r structural homology to resistin within thE C-terminal domai 123 2PMW pdb_description: 08-May-07 X-ray 2.300 The crystal structure of proprotein convertase subtilisin kexin type 9 (pcsk9) 123 2P4E pdb_description: 10-Apr-07 X-ray 1.980 Crystal structure of pcsk9 123 3P5C pdb_description: 26-Oct-11 X-ray 4.200 The structure of the ldlr/pcsk9 complex reveals the receptor extended conformation 123 3P5B pdb_description: 26-Oct-11 X-ray 3.300 The structure of the ldlr/pcsk9 complex reveals the receptor extended conformation 123 3M0C pdb_description: 16-Mar-11 X-ray 7.010 The x-ray crystal structure of pcsk9 in complex with the ldl 123 3GCX pdb_description: 03-Mar-09 X-ray 2.700 Pcsk9:egfa (ph 7.4) 123 3GCW pdb_description: 03-Mar-09 X-ray 2.700 Pcsk9:egfa(h306y) 123 3BPS pdb_description: 12-Feb-08 X-ray 2.410 Pcsk9:egf-a complex 123 2W2Q pdb_description: 18-Nov-08 X-ray 2.330 Pcsk9-deltac d374h mutant bound to wt egf-a of ldlr 123 2W2P pdb_description: 18-Nov-08 X-ray 2.620 Pcsk9-deltac d374a mutant bound to wt egf-a of ldlr 123 2W2O pdb_description: 18-Nov-08 X-ray 2.620 Pcsk9-deltac d374y mutant bound to wt egf-a of ldlr 123 2W2N pdb_description: 18-Nov-08 X-ray 2.300 Wt pcsk9-deltac bound to egf-a h306y mutant of ldlr 123 2W2M pdb_description: 18-Nov-08 X-ray 2.400 Wt pcsk9-deltac bound to wt egf-a of ldlr 123 Zimmer Variants: 123 chr1:55505668:C:T 2079_158_53_A->V 123 chr1:55524237:G:A 2079_1420_474_V->I,1 123 chr1:55529187:G:A 2079_2009_670_G->E;HUB=REG;GENE=PCSK9;CDSS=2 123 HGMD Variants: 123 chr1:55512222:C:G 2079_426_142_Y->* 123 chr1:55523812:G:A 2079_1284_428_W->* 123 chr1:55529215:C:A 2079_2037_679_C->* 123 chr1:55505520:G:A 2079_10_4_V->I 123 chr1:55505604:G:A 2079_94_32_E->K 123 chr1:55505613:G:T 2079_103_35_D->Y 123 chr1:55505647:G:T 2079_137_46_R->L 123 chr1:55505668:C:T 2079_158_53_A->V 123 chr1:55505671:A:C 2079_161_54_E->A 123 chr1:55505679:G:A 2079_169_57_E->K 123 chr1:55509538:C:T 2079_230_77_T->I 123 chr1:55509582:G:A 2079_274_92_E->K 123 chr1:55509585:C:T 2079_277_93_R->C 123 chr1:55509618:C:T 2079_310_104_R->C 123 chr1:55509622:G:A 2079_314_105_R->Q 123 chr1:55509624:G:A 2079_316_106_G->R 123 chr1:55509631:T:G 2079_323_108_L->R 123 chr1:55509649:T:C 2079_341_114_V->A 123 chr1:55509689:T:A 2079_381_127_S->R 123 chr1:55509693:G:A 2079_385_129_D->N 123 chr1:55509694:A:G 2079_386_129_D->G 123 chr1:55512252:G:C 2079_456_152_Q->H 123 chr1:55512260:C:T 2079_464_155_P->L 123 chr1:55512267:C:A 2079_471_157_N->K 123 chr1:55512316:C:T 2079_520_174_P->S 123 chr1:55518070:C:T 2079_643_215_R->C 123 chr1:55518071:G:A 2079_644_215_R->H 123 chr1:55518073:T:C 2079_646_216_F->L 123 chr1:55518081:A:T 2079_654_218_R->S 123 chr1:55518082:C:G 2079_655_219_Q->E 123 chr1:55518371:G:A 2079_706_236_G->S 123 chr1:55518374:C:T 2079_709_237_R->W 123 chr1:55518381:C:A 2079_716_239_A->D 123 chr1:55518422:C:T 2079_757_253_L->F 123 chr1:55518452:G:A 2079_787_263_G->S 123 chr1:55521784:G:T 2079_918_306_R->S 123 chr1:55523068:A:T 2079_1061_354_N->I 123 chr1:55523077:G:A 2079_1070_357_R->H 123 chr1:55523127:G:T 2079_1120_374_D->Y 123 chr1:55523127:G:C 2079_1120_374_D->H 123 chr1:55523178:C:A 2079_1171_391_H->N 123 chr1:55523779:C:A 2079_1251_417_H->Q 123 chr1:55523802:A:G 2079_1274_425_N->S 123 chr1:55523828:C:T 2079_1300_434_R->W 123 chr1:55524172:G:A 2079_1355_452_G->D 123 chr1:55524201:T:C 2079_1384_462_S->P,1 123 chr1:55524222:C:T 2079_1405_469_R->W,1 123 chr1:55524237:G:A 2079_1420_474_V->I,1 123 chr1:55524262:A:G 2079_1445_482_E->G 123 chr1:55524303:C:T 2079_1486_496_R->W 123 chr1:55524309:G:A 2079_1492_498_E->K 123 chr1:55525195:G:A 2079_1540_514_A->T 123 chr1:55525200:T:G 2079_1545_515_F->L 123 chr1:55525219:G:A 2079_1564_522_A->T 123 chr1:55525313:A:G 2079_1658_553_H->R 123 chr1:55525315:C:G 2079_1660_554_Q->E 123 chr1:55527213:C:T 2079_1847_616_P->L 123 chr1:55527216:C:A 2079_1850_617_A->D 123 chr1:55529048:G:A 2079_1870_624_V->M 123 chr1:55529182:C:A 2079_2004_668_S->R 123 chr1:55529187:G:A 2079_2009_670_G->E 123 oneKG Variants: 123 chr1:55512222:C:G 2079_426_142_Y->* 0.00139776 123 chr1:55529215:C:A 2079_2037_679_C->* 0.00219649 123 chr1:55505520:G:A 2079_10_4_V->I 0.000399361 123 chr1:55505592:G:A 2079_82_28_A->T 0.000199681 123 chr1:55505604:G:A 2079_94_32_E->K 0.000399361 123 chr1:55505632:T:A 2079_122_41_L->Q 0.000199681 123 chr1:55505647:G:T 2079_137_46_R->L 0.00638978 123 chr1:55505668:C:T 2079_158_53_A->V 0.091254 123 chr1:55505679:G:A 2079_169_57_E->K 0.000998403 123 chr1:55509520:C:T 2079_212_71_P->L 0.000199681 123 chr1:55509585:C:T 2079_277_93_R->C 0.00259585 123 chr1:55509594:C:T 2079_286_96_R->C 0.000399361 123 chr1:55509597:C:T 2079_289_97_R->C 0.000199681 123 chr1:55509598:G:A 2079_290_97_R->H 0.000399361 123 chr1:55509606:G:A 2079_298_100_A->T 0.000199681 123 chr1:55512290:G:A 2079_494_165_R->Q 0.000199681 123 chr1:55512295:C:T 2079_499_167_R->W 0.000199681 123 chr1:55512316:C:T 2079_520_174_P->S 0.000199681 123 chr1:55517953:G:A 2079_526_176_G->R 0.000199681 123 chr1:55518371:G:A 2079_706_236_G->S 0.000399361 123 chr1:55518374:C:T 2079_709_237_R->W 0.000199681 123 chr1:55518422:C:T 2079_757_253_L->F 0.000798722 123 chr1:55518452:G:A 2079_787_263_G->S 0.000399361 123 chr1:55518456:C:T 2079_791_264_T->I 0.000199681 123 chr1:55521695:G:C 2079_829_277_V->L 0.000399361 123 chr1:55521701:C:A 2079_835_279_P->T 0.000998403 123 chr1:55521713:C:A 2079_847_283_L->M 0.000399361 123 chr1:55521758:A:G 2079_892_298_N->D 0.000399361 123 chr1:55521812:G:T 2079_946_316_G->C 0.000399361 123 chr1:55523106:G:C 2079_1099_367_D->H 0.000798722 123 chr1:55523178:C:A 2079_1171_391_H->N 0.000199681 123 chr1:55523732:G:T 2079_1204_402_A->S 0.000199681 123 chr1:55523751:T:A 2079_1223_408_L->Q 0.0 123 chr1:55523779:C:A 2079_1251_417_H->Q 0.00139776 123 chr1:55523796:T:C 2079_1268_423_V->A 0.000399361 123 chr1:55523802:A:G 2079_1274_425_N->S 0.00638978 123 chr1:55523822:G:A 2079_1294_432_D->N 0.000399361 123 chr1:55523855:G:A 2079_1327_443_A->T 0.0265575 123 chr1:55524214:G:A 2079_1397_466_G->E 0.000199681 123 chr1:55524222:C:T 2079_1405_469_R->W,1 0.00179712 123 chr1:55524237:G:A 2079_1420_474_V->I,1 0.13099 123 chr1:55524262:A:G 2079_1445_482_E->G 0.000199681 123 chr1:55524292:G:C 2079_1475_492_S->T 0.000199681 123 chr1:55524304:G:A 2079_1487_496_R->Q 0.000199681 123 chr1:55524312:C:T 2079_1495_499_R->C 0.000399361 123 chr1:55525229:G:C 2079_1574_525_R->T 0.000199681 123 chr1:55525313:A:G 2079_1658_553_H->R 0.00419329 123 chr1:55525315:C:G 2079_1660_554_Q->E 0.000599042 123 chr1:55527122:A:G 2079_1756_586_N->D 0.000199681 123 chr1:55527139:C:G 2079_1773_591_H->Q 0.000798722 123 chr1:55527222:A:C 2079_1856_619_Q->P 0.00439297 123 chr1:55529108:G:A 2079_1930_644_V->I 0.000399361 123 chr1:55529132:A:G 2079_1954_652_N->D 0.000199681 123 chr1:55529153:C:T 2079_1975_659_R->W 0.000199681 123 chr1:55529187:G:A 2079_2009_670_G->E 0.101038 123 chr1:55529216:C:T 2079_2038_680_R->W 0.000998403 123 chr1:55529225:C:A 2079_2047_683_H->N 0.000199681 123 na12878 Variants: 123 chr1:55524237:G:A 2079_1420_474_V->I,1 123 chr1:55529187:G:A 2079_2009_670_G->E 123 snyder Variants: 123 chr1:55524237:G:A 2079_1420_474_V->I,1 123 chr1:55529187:G:A 2079_2009_670_G->E 124 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132849_ENST00000316485 gene_Name: INADL_HUMAN 124 list of pdbs: 124 2EHR pdb_description: 11-Sep-07 NMR 20 Solution structure of the sixth pdz domain of human inad- like protein 124 2DMZ pdb_description: 24-Oct-06 NMR 20 Solution structure of the third pdz domain of human inad- like protein 124 2DM8 pdb_description: 20-Oct-06 NMR 20 Solution structure of the eighth pdz domain of human inad- like protein 124 2DLU pdb_description: 20-Oct-06 NMR 20 Solution structure of the second pdz domain of human inad- like protein 124 2DB5 pdb_description: 15-Jun-06 NMR 20 Solution structure of the first pdz domain of inad-like protein 124 2DAZ pdb_description: 14-Jun-06 NMR 20 Solution structure of the 7th pdz domain of inad-like protein 124 2D92 pdb_description: 08-Jun-06 NMR 20 Solution structure of the fifth pdz domain of inad-like protein 124 1VF6 pdb_description: 20-Apr-04 X-ray 2.100 2.1 angstrom crystal structure of the pals-1-l27n and patj l27 heterodimer complex 124 Zimmer Variants: 124 chr1:62257036:A:C 4749_1085_362_E->A;HUB=PPI;GENE=INADL;CDSS=3;DBRECUR=INADL 124 chr1:62330080:T:G 4749_2610_870_I->M 124 chr1:62380298:G:A 4749_3532_1178_G->S 124 chr1:62516683:G:C 4749_4078_1360_V->L 124 HGMD Variants: 124 chr1:62380298:G:A 4749_3532_1178_G->S 124 oneKG Variants: 124 chr1:62579815:A:T 4749_4642_1548_R->* 0.000199681 124 chr1:62228696:G:A 4749_34_12_V->M 0.000399361 124 chr1:62228771:A:G 4749_109_37_M->V 0.000599042 124 chr1:62232066:C:T 4749_305_102_S->L 0.000199681 124 chr1:62232087:C:T 4749_326_109_P->L 0.00199681 124 chr1:62234958:C:T 4749_388_130_R->W 0.000199681 124 chr1:62234985:C:T 4749_415_139_R->W 0.000199681 124 chr1:62234994:A:G 4749_424_142_T->A 0.000199681 124 chr1:62235027:A:G 4749_457_153_R->G 0.0107827 124 chr1:62235060:G:C 4749_490_164_V->L 0.000199681 124 chr1:62235091:A:G 4749_521_174_D->G 0.000399361 124 chr1:62237150:C:T 4749_572_191_T->M 0.0 124 chr1:62237152:C:T 4749_574_192_P->S 0.000399361 124 chr1:62237255:G:T 4749_677_226_S->I 0.000199681 124 chr1:62240945:T:A 4749_788_263_V->D 0.000199681 124 chr1:62240996:T:C 4749_839_280_L->S 0.000199681 124 chr1:62253442:C:A 4749_866_289_T->K 0.000199681 124 chr1:62253483:G:A 4749_907_303_G->R 0.117412 124 chr1:62253546:G:A 4749_970_324_V->I 0.000798722 124 chr1:62253583:C:A 4749_1007_336_P->H 0.00199681 124 chr1:62253585:C:G 4749_1009_337_P->A 0.000399361 124 chr1:62253601:T:C 4749_1025_342_L->S 0.00758786 124 chr1:62257036:A:C 4749_1085_362_E->A 0.0461262 124 chr1:62257092:G:A 4749_1141_381_V->I 0.000798722 124 chr1:62257096:G:T 4749_1145_382_G->V 0.000199681 124 chr1:62261168:A:G 4749_1198_400_I->V 0.434904 124 chr1:62262981:G:A 4749_1283_428_G->D 0.000199681 124 chr1:62263014:G:A 4749_1316_439_R->Q 0.000399361 124 chr1:62263040:A:G 4749_1342_448_T->A 0.000199681 124 chr1:62263049:C:G 4749_1351_451_R->G 0.000599042 124 chr1:62267295:G:A 4749_1403_468_G->E 0.000199681 124 chr1:62267321:C:T 4749_1429_477_P->S 0.000599042 124 chr1:62267324:G:A 4749_1432_478_A->T 0.000199681 124 chr1:62267355:A:G 4749_1463_488_E->G 0.000399361 124 chr1:62274189:A:T 4749_1670_557_Q->L 0.000199681 124 chr1:62288730:G:C 4749_1797_599_Q->H 0.0121805 124 chr1:62293125:G:A 4749_1850_617_R->H 0.000399361 124 chr1:62293184:C:T 4749_1909_637_R->W 0.000199681 124 chr1:62293185:G:A 4749_1910_637_R->Q 0.000399361 124 chr1:62293226:C:T 4749_1951_651_R->C 0.000199681 124 chr1:62293227:G:A 4749_1952_651_R->H 0.000199681 124 chr1:62299410:C:G 4749_2065_689_L->V 0.00499201 124 chr1:62321898:G:A 4749_2309_770_C->Y 0.000199681 124 chr1:62327265:A:C 4749_2365_789_S->R 0.000199681 124 chr1:62327304:G:C 4749_2404_802_D->H 0.0145767 124 chr1:62330062:G:A 4749_2592_864_M->I 0.00259585 124 chr1:62330080:T:G 4749_2610_870_I->M 0.009185 124 chr1:62330255:A:G 4749_2785_929_T->A 0.000199681 124 chr1:62330289:A:G 4749_2819_940_Y->C 0.00958466 124 chr1:62340918:A:G 4749_2839_947_K->E 0.000798722 124 chr1:62340960:A:G 4749_2881_961_T->A 0.000199681 124 chr1:62341003:A:G 4749_2924_975_N->S 0.000199681 124 chr1:62350016:C:G 4749_3067_1023_R->G 0.00539137 124 chr1:62350037:G:A 4749_3088_1030_A->T 0.000199681 124 chr1:62365317:C:A 4749_3194_1065_P->Q 0.000199681 124 chr1:62366979:G:A 4749_3229_1077_V->M 0.000399361 124 chr1:62367055:T:C 4749_3305_1102_I->T 0.00159744 124 chr1:62367102:G:A 4749_3352_1118_A->T 0.000199681 124 chr1:62374084:C:G 4749_3422_1141_A->G 0.000199681 124 chr1:62374108:G:A 4749_3446_1149_G->E 0.000199681 124 chr1:62374119:G:T 4749_3457_1153_V->L 0.000399361 124 chr1:62380262:A:G 4749_3496_1166_I->V 0.000199681 124 chr1:62380287:A:G 4749_3521_1174_N->S 0.0213658 124 chr1:62380298:G:A 4749_3532_1178_G->S 0.445088 124 chr1:62380309:C:A 4749_3543_1181_N->K 0.000199681 124 chr1:62393420:C:T 4749_3589_1197_P->S 0.0397364 124 chr1:62393426:A:G 4749_3595_1199_M->V 0.000199681 124 chr1:62455935:A:G 4749_3766_1256_N->D 0.00319489 124 chr1:62455950:C:T 4749_3781_1261_R->C 0.000399361 124 chr1:62455998:G:A 4749_3829_1277_A->T 0.000199681 124 chr1:62456008:G:A 4749_3839_1280_R->Q 0.000199681 124 chr1:62456014:G:A 4749_3845_1282_R->H 0.47484 124 chr1:62456019:G:A 4749_3850_1284_G->R 0.000199681 124 chr1:62483560:C:G 4749_3900_1300_H->Q 0.000199681 124 chr1:62483586:C:T 4749_3926_1309_T->I 0.00599042 124 chr1:62516657:C:T 4749_4052_1351_P->L 0.000599042 124 chr1:62516683:G:C 4749_4078_1360_V->L 0.429113 124 chr1:62516686:G:A 4749_4081_1361_E->K 0.000199681 124 chr1:62550238:C:G 4749_4295_1432_P->R 0.000599042 124 chr1:62550249:A:C 4749_4306_1436_M->L 0.000399361 124 chr1:62550274:G:A 4749_4331_1444_R->H 0.000199681 124 chr1:62550280:G:C 4749_4337_1446_G->A 0.000199681 124 chr1:62566008:T:A 4749_4395_1465_S->R 0.000199681 124 chr1:62566018:T:C 4749_4405_1469_W->R 0.0061901 124 chr1:62566063:A:G 4749_4450_1484_T->A 0.000199681 124 chr1:62566076:G:A 4749_4463_1488_G->E 0.000199681 124 chr1:62574133:T:C 4749_4492_1498_Y->H 0.000998403 124 chr1:62574145:G:T 4749_4504_1502_A->S 0.000199681 124 chr1:62579758:G:A 4749_4585_1529_E->K 0.00499201 124 chr1:62579791:C:G 4749_4618_1540_Q->E 0.000399361 124 chr1:62579809:G:T 4749_4636_1546_V->L 0.000798722 124 chr1:62579834:G:A 4749_4661_1554_R->Q 0.000199681 124 chr1:62579837:A:G 4749_4664_1555_D->G 0.000199681 124 chr1:62579841:G:T 4749_4668_1556_E->D 0.000599042 124 chr1:62579881:G:A 4749_4708_1570_A->T 0.000399361 124 chr1:62579887:C:T 4749_4714_1572_R->W 0.000199681 124 chr1:62579890:G:A 4749_4717_1573_G->S 0.000199681 124 chr1:62579891:G:T 4749_4718_1573_G->V 0.0265575 124 chr1:62579894:T:G 4749_4721_1574_L->R 0.000199681 124 na12878 Variants: 124 chr1:62330080:T:G 4749_2610_870_I->M 124 chr1:62380298:G:A 4749_3532_1178_G->S 124 chr1:62261168:A:G 4749_1198_400_I->V 124 chr1:62456014:G:A 4749_3845_1282_R->H 124 chr1:62516683:G:C 4749_4078_1360_V->L 124 snyder Variants: 124 chr1:62330080:T:G 4749_2610_870_I->M 124 chr1:62516683:G:C 4749_4078_1360_V->L 125 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132849_ENST00000371158 gene_Name: INADL_HUMAN 125 list of pdbs: 125 2EHR pdb_description: 11-Sep-07 NMR 20 Solution structure of the sixth pdz domain of human inad- like protein 125 2DMZ pdb_description: 24-Oct-06 NMR 20 Solution structure of the third pdz domain of human inad- like protein 125 2DM8 pdb_description: 20-Oct-06 NMR 20 Solution structure of the eighth pdz domain of human inad- like protein 125 2DLU pdb_description: 20-Oct-06 NMR 20 Solution structure of the second pdz domain of human inad- like protein 125 2DB5 pdb_description: 15-Jun-06 NMR 20 Solution structure of the first pdz domain of inad-like protein 125 2DAZ pdb_description: 14-Jun-06 NMR 20 Solution structure of the 7th pdz domain of inad-like protein 125 2D92 pdb_description: 08-Jun-06 NMR 20 Solution structure of the fifth pdz domain of inad-like protein 125 1VF6 pdb_description: 20-Apr-04 X-ray 2.100 2.1 angstrom crystal structure of the pals-1-l27n and patj l27 heterodimer complex 125 Zimmer Variants: 125 chr1:62257036:A:C 5406_1085_362_E->A 125 chr1:62330080:T:G 5406_2610_870_I->M 125 chr1:62380298:G:A 5406_3532_1178_G->S 125 chr1:62516683:G:C 5406_4078_1360_V->L 125 HGMD Variants: 125 chr1:62380298:G:A 5406_3532_1178_G->S 125 oneKG Variants: 125 chr1:62579815:A:T 5406_4552_1518_R->* 0.000199681 125 chr1:62228696:G:A 5406_34_12_V->M 0.000399361 125 chr1:62228771:A:G 5406_109_37_M->V 0.000599042 125 chr1:62232066:C:T 5406_305_102_S->L 0.000199681 125 chr1:62232087:C:T 5406_326_109_P->L 0.00199681 125 chr1:62234958:C:T 5406_388_130_R->W 0.000199681 125 chr1:62234985:C:T 5406_415_139_R->W 0.000199681 125 chr1:62234994:A:G 5406_424_142_T->A 0.000199681 125 chr1:62235027:A:G 5406_457_153_R->G 0.0107827 125 chr1:62235060:G:C 5406_490_164_V->L 0.000199681 125 chr1:62235091:A:G 5406_521_174_D->G 0.000399361 125 chr1:62237150:C:T 5406_572_191_T->M 0.0 125 chr1:62237152:C:T 5406_574_192_P->S 0.000399361 125 chr1:62237255:G:T 5406_677_226_S->I 0.000199681 125 chr1:62240945:T:A 5406_788_263_V->D 0.000199681 125 chr1:62240996:T:C 5406_839_280_L->S 0.000199681 125 chr1:62253442:C:A 5406_866_289_T->K 0.000199681 125 chr1:62253483:G:A 5406_907_303_G->R 0.117412 125 chr1:62253546:G:A 5406_970_324_V->I 0.000798722 125 chr1:62253583:C:A 5406_1007_336_P->H 0.00199681 125 chr1:62253585:C:G 5406_1009_337_P->A 0.000399361 125 chr1:62253601:T:C 5406_1025_342_L->S 0.00758786 125 chr1:62257036:A:C 5406_1085_362_E->A 0.0461262 125 chr1:62257092:G:A 5406_1141_381_V->I 0.000798722 125 chr1:62257096:G:T 5406_1145_382_G->V 0.000199681 125 chr1:62261168:A:G 5406_1198_400_I->V 0.434904 125 chr1:62262981:G:A 5406_1283_428_G->D 0.000199681 125 chr1:62263014:G:A 5406_1316_439_R->Q 0.000399361 125 chr1:62263040:A:G 5406_1342_448_T->A 0.000199681 125 chr1:62263049:C:G 5406_1351_451_R->G 0.000599042 125 chr1:62267295:G:A 5406_1403_468_G->E 0.000199681 125 chr1:62267321:C:T 5406_1429_477_P->S 0.000599042 125 chr1:62267324:G:A 5406_1432_478_A->T 0.000199681 125 chr1:62267355:A:G 5406_1463_488_E->G 0.000399361 125 chr1:62274189:A:T 5406_1670_557_Q->L 0.000199681 125 chr1:62288730:G:C 5406_1797_599_Q->H 0.0121805 125 chr1:62293125:G:A 5406_1850_617_R->H 0.000399361 125 chr1:62293184:C:T 5406_1909_637_R->W 0.000199681 125 chr1:62293185:G:A 5406_1910_637_R->Q 0.000399361 125 chr1:62293226:C:T 5406_1951_651_R->C 0.000199681 125 chr1:62293227:G:A 5406_1952_651_R->H 0.000199681 125 chr1:62299410:C:G 5406_2065_689_L->V 0.00499201 125 chr1:62321898:G:A 5406_2309_770_C->Y 0.000199681 125 chr1:62327265:A:C 5406_2365_789_S->R 0.000199681 125 chr1:62327304:G:C 5406_2404_802_D->H 0.0145767 125 chr1:62330062:G:A 5406_2592_864_M->I 0.00259585 125 chr1:62330080:T:G 5406_2610_870_I->M 0.009185 125 chr1:62330255:A:G 5406_2785_929_T->A 0.000199681 125 chr1:62330289:A:G 5406_2819_940_Y->C 0.00958466 125 chr1:62340918:A:G 5406_2839_947_K->E 0.000798722 125 chr1:62340960:A:G 5406_2881_961_T->A 0.000199681 125 chr1:62341003:A:G 5406_2924_975_N->S 0.000199681 125 chr1:62350016:C:G 5406_3067_1023_R->G 0.00539137 125 chr1:62350037:G:A 5406_3088_1030_A->T 0.000199681 125 chr1:62365317:C:A 5406_3194_1065_P->Q 0.000199681 125 chr1:62366979:G:A 5406_3229_1077_V->M 0.000399361 125 chr1:62367055:T:C 5406_3305_1102_I->T 0.00159744 125 chr1:62367102:G:A 5406_3352_1118_A->T 0.000199681 125 chr1:62374084:C:G 5406_3422_1141_A->G 0.000199681 125 chr1:62374108:G:A 5406_3446_1149_G->E 0.000199681 125 chr1:62374119:G:T 5406_3457_1153_V->L 0.000399361 125 chr1:62380262:A:G 5406_3496_1166_I->V 0.000199681 125 chr1:62380287:A:G 5406_3521_1174_N->S 0.0213658 125 chr1:62380298:G:A 5406_3532_1178_G->S 0.445088 125 chr1:62380309:C:A 5406_3543_1181_N->K 0.000199681 125 chr1:62393420:C:T 5406_3589_1197_P->S 0.0397364 125 chr1:62393426:A:G 5406_3595_1199_M->V 0.000199681 125 chr1:62455935:A:G 5406_3766_1256_N->D 0.00319489 125 chr1:62455950:C:T 5406_3781_1261_R->C 0.000399361 125 chr1:62455998:G:A 5406_3829_1277_A->T 0.000199681 125 chr1:62456008:G:A 5406_3839_1280_R->Q 0.000199681 125 chr1:62456014:G:A 5406_3845_1282_R->H 0.47484 125 chr1:62456019:G:A 5406_3850_1284_G->R 0.000199681 125 chr1:62483560:C:G 5406_3900_1300_H->Q 0.000199681 125 chr1:62483586:C:T 5406_3926_1309_T->I 0.00599042 125 chr1:62516657:C:T 5406_4052_1351_P->L 0.000599042 125 chr1:62516683:G:C 5406_4078_1360_V->L 0.429113 125 chr1:62516686:G:A 5406_4081_1361_E->K 0.000199681 125 chr1:62550238:C:G 5406_4295_1432_P->R 0.000599042 125 chr1:62550249:A:C 5406_4306_1436_M->L 0.000399361 125 chr1:62550274:G:A 5406_4331_1444_R->H 0.000199681 125 chr1:62550280:G:C 5406_4337_1446_G->A 0.000199681 125 chr1:62574133:T:C 5406_4402_1468_Y->H 0.000998403 125 chr1:62574145:G:T 5406_4414_1472_A->S 0.000199681 125 chr1:62579758:G:A 5406_4495_1499_E->K 0.00499201 125 chr1:62579791:C:G 5406_4528_1510_Q->E 0.000399361 125 chr1:62579809:G:T 5406_4546_1516_V->L 0.000798722 125 chr1:62579834:G:A 5406_4571_1524_R->Q 0.000199681 125 chr1:62579837:A:G 5406_4574_1525_D->G 0.000199681 125 chr1:62579841:G:T 5406_4578_1526_E->D 0.000599042 125 chr1:62579881:G:A 5406_4618_1540_A->T 0.000399361 125 chr1:62579887:C:T 5406_4624_1542_R->W 0.000199681 125 chr1:62579890:G:A 5406_4627_1543_G->S 0.000199681 125 chr1:62579891:G:T 5406_4628_1543_G->V 0.0265575 125 chr1:62579894:T:G 5406_4631_1544_L->R 0.000199681 125 chr1:62582212:G:A 5406_4664_1555_S->N 0.0447284 125 chr1:62582311:T:G 5406_4763_1588_M->R 0.000199681 125 chr1:62582328:G:A 5406_4780_1594_E->K 0.000199681 125 chr1:62582847:C:G 5406_4847_1616_A->G 0.0071885 125 chr1:62582867:A:G 5406_4867_1623_R->G 0.000199681 125 chr1:62586871:C:G 5406_4909_1637_H->D 0.000998403 125 chr1:62586947:A:T 5406_4985_1662_D->V 0.000399361 125 chr1:62593656:G:T 5406_5056_1686_A->S 0.000399361 125 chr1:62593672:T:C 5406_5072_1691_I->T 0.000199681 125 chr1:62593732:C:T 5406_5132_1711_A->V 0.000199681 125 chr1:62593737:G:A 5406_5137_1713_G->R 0.00199681 125 chr1:62593746:G:A 5406_5146_1716_A->T 0.000199681 125 chr1:62593749:C:T 5406_5149_1717_R->W 0.000998403 125 chr1:62593750:G:A 5406_5150_1717_R->Q 0.00399361 125 chr1:62594586:T:G 5406_5240_1747_L->R 0.000199681 125 chr1:62614029:C:T 5406_5345_1782_S->L 0.00179712 125 chr1:62626597:C:T 5406_5396_1799_T->M 0.000199681 125 chr1:62626603:A:T 5406_5402_1801_D->V 0.000199681 125 na12878 Variants: 125 chr1:62330080:T:G 5406_2610_870_I->M 125 chr1:62380298:G:A 5406_3532_1178_G->S 125 chr1:62261168:A:G 5406_1198_400_I->V 125 chr1:62456014:G:A 5406_3845_1282_R->H 125 chr1:62516683:G:C 5406_4078_1360_V->L 125 snyder Variants: 125 chr1:62330080:T:G 5406_2610_870_I->M 125 chr1:62516683:G:C 5406_4078_1360_V->L 126 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132849_ENST00000484937 gene_Name: INADL_HUMAN 126 list of pdbs: 126 2EHR pdb_description: 11-Sep-07 NMR 20 Solution structure of the sixth pdz domain of human inad- like protein 126 2DMZ pdb_description: 24-Oct-06 NMR 20 Solution structure of the third pdz domain of human inad- like protein 126 2DM8 pdb_description: 20-Oct-06 NMR 20 Solution structure of the eighth pdz domain of human inad- like protein 126 2DLU pdb_description: 20-Oct-06 NMR 20 Solution structure of the second pdz domain of human inad- like protein 126 2DB5 pdb_description: 15-Jun-06 NMR 20 Solution structure of the first pdz domain of inad-like protein 126 2DAZ pdb_description: 14-Jun-06 NMR 20 Solution structure of the 7th pdz domain of inad-like protein 126 2D92 pdb_description: 08-Jun-06 NMR 20 Solution structure of the fifth pdz domain of inad-like protein 126 1VF6 pdb_description: 20-Apr-04 X-ray 2.100 2.1 angstrom crystal structure of the pals-1-l27n and patj l27 heterodimer complex 126 Zimmer Variants: 126 chr1:62330080:T:G 3405_987_329_I->M;HUB=PPI;GENE=INADL;CDSS=3;DBRECUR=INADL 126 chr1:62380298:G:A 3405_1909_637_G->S;HUB=PPI;GENE=INADL;CDSS=3;DBRECUR=INADL 126 chr1:62516683:G:C 3405_2455_819_V->L 126 HGMD Variants: 126 chr1:62380298:G:A 3405_1909_637_G->S 126 oneKG Variants: 126 chr1:62579815:A:T 3405_2929_977_R->* 0.000199681 126 chr1:62274189:A:T 3405_47_16_Q->L 0.000199681 126 chr1:62288730:G:C 3405_174_58_Q->H 0.0121805 126 chr1:62293125:G:A 3405_227_76_R->H 0.000399361 126 chr1:62293184:C:T 3405_286_96_R->W 0.000199681 126 chr1:62293185:G:A 3405_287_96_R->Q 0.000399361 126 chr1:62293226:C:T 3405_328_110_R->C 0.000199681 126 chr1:62293227:G:A 3405_329_110_R->H 0.000199681 126 chr1:62299410:C:G 3405_442_148_L->V 0.00499201 126 chr1:62321898:G:A 3405_686_229_C->Y 0.000199681 126 chr1:62327265:A:C 3405_742_248_S->R 0.000199681 126 chr1:62327304:G:C 3405_781_261_D->H 0.0145767 126 chr1:62330062:G:A 3405_969_323_M->I 0.00259585 126 chr1:62330080:T:G 3405_987_329_I->M 0.009185 126 chr1:62330255:A:G 3405_1162_388_T->A 0.000199681 126 chr1:62330289:A:G 3405_1196_399_Y->C 0.00958466 126 chr1:62340918:A:G 3405_1216_406_K->E 0.000798722 126 chr1:62340960:A:G 3405_1258_420_T->A 0.000199681 126 chr1:62341003:A:G 3405_1301_434_N->S 0.000199681 126 chr1:62350016:C:G 3405_1444_482_R->G 0.00539137 126 chr1:62350037:G:A 3405_1465_489_A->T 0.000199681 126 chr1:62365317:C:A 3405_1571_524_P->Q 0.000199681 126 chr1:62366979:G:A 3405_1606_536_V->M 0.000399361 126 chr1:62367055:T:C 3405_1682_561_I->T 0.00159744 126 chr1:62367102:G:A 3405_1729_577_A->T 0.000199681 126 chr1:62374084:C:G 3405_1799_600_A->G 0.000199681 126 chr1:62374108:G:A 3405_1823_608_G->E 0.000199681 126 chr1:62374119:G:T 3405_1834_612_V->L 0.000399361 126 chr1:62380262:A:G 3405_1873_625_I->V 0.000199681 126 chr1:62380287:A:G 3405_1898_633_N->S 0.0213658 126 chr1:62380298:G:A 3405_1909_637_G->S 0.445088 126 chr1:62380309:C:A 3405_1920_640_N->K 0.000199681 126 chr1:62393420:C:T 3405_1966_656_P->S 0.0397364 126 chr1:62393426:A:G 3405_1972_658_M->V 0.000199681 126 chr1:62455935:A:G 3405_2143_715_N->D 0.00319489 126 chr1:62455950:C:T 3405_2158_720_R->C 0.000399361 126 chr1:62455998:G:A 3405_2206_736_A->T 0.000199681 126 chr1:62456008:G:A 3405_2216_739_R->Q 0.000199681 126 chr1:62456014:G:A 3405_2222_741_R->H 0.47484 126 chr1:62456019:G:A 3405_2227_743_G->R 0.000199681 126 chr1:62483560:C:G 3405_2277_759_H->Q 0.000199681 126 chr1:62483586:C:T 3405_2303_768_T->I 0.00599042 126 chr1:62516657:C:T 3405_2429_810_P->L 0.000599042 126 chr1:62516683:G:C 3405_2455_819_V->L 0.429113 126 chr1:62516686:G:A 3405_2458_820_E->K 0.000199681 126 chr1:62550238:C:G 3405_2672_891_P->R 0.000599042 126 chr1:62550249:A:C 3405_2683_895_M->L 0.000399361 126 chr1:62550274:G:A 3405_2708_903_R->H 0.000199681 126 chr1:62550280:G:C 3405_2714_905_G->A 0.000199681 126 chr1:62574133:T:C 3405_2779_927_Y->H 0.000998403 126 chr1:62574145:G:T 3405_2791_931_A->S 0.000199681 126 chr1:62579758:G:A 3405_2872_958_E->K 0.00499201 126 chr1:62579791:C:G 3405_2905_969_Q->E 0.000399361 126 chr1:62579809:G:T 3405_2923_975_V->L 0.000798722 126 chr1:62579834:G:A 3405_2948_983_R->Q 0.000199681 126 chr1:62579837:A:G 3405_2951_984_D->G 0.000199681 126 chr1:62579841:G:T 3405_2955_985_E->D 0.000599042 126 chr1:62579881:G:A 3405_2995_999_A->T 0.000399361 126 chr1:62579887:C:T 3405_3001_1001_R->W 0.000199681 126 chr1:62579890:G:A 3405_3004_1002_G->S 0.000199681 126 chr1:62579891:G:T 3405_3005_1002_G->V 0.0265575 126 chr1:62579894:T:G 3405_3008_1003_L->R 0.000199681 126 chr1:62582212:G:A 3405_3041_1014_S->N 0.0447284 126 chr1:62582311:T:G 3405_3140_1047_M->R 0.000199681 126 chr1:62582328:G:A 3405_3157_1053_E->K 0.000199681 126 chr1:62582847:C:G 3405_3224_1075_A->G 0.0071885 126 chr1:62582867:A:G 3405_3244_1082_R->G 0.000199681 126 chr1:62586871:C:G 3405_3281_1094_T->R 0.000998403 126 chr1:62586947:A:T 3405_3357_1119_R->S 0.000399361 126 na12878 Variants: 126 chr1:62330080:T:G 3405_987_329_I->M 126 chr1:62380298:G:A 3405_1909_637_G->S 126 chr1:62456014:G:A 3405_2222_741_R->H 126 chr1:62516683:G:C 3405_2455_819_V->L 126 snyder Variants: 126 chr1:62330080:T:G 3405_987_329_I->M 126 chr1:62516683:G:C 3405_2455_819_V->L 127 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116678_ENST00000344610 gene_Name: LEPR_HUMAN 127 list of pdbs: 127 3V6O pdb_description: 14-Mar-12 X-ray 1.950 Leptin receptor-antibody complex 127 Zimmer Variants: 127 chr1:66058513:A:G 2721_668_223_Q->R 127 chr1:66075952:G:C 2721_1968_656_K->N 127 HGMD Variants: 127 chr1:66074506:G:A 2721_1674_558_W->* 127 chr1:66036441:A:G 2721_326_109_K->R 127 chr1:66058513:A:G 2721_668_223_Q->R 127 chr1:66064439:C:A 2721_946_316_P->T 127 chr1:66067110:G:A 2721_1030_344_V->I 127 chr1:66067306:C:A 2721_1226_409_A->E 127 chr1:66067344:T:C 2721_1264_422_Y->H 127 chr1:66075687:T:G 2721_1810_604_C->G 127 chr1:66075712:G:A 2721_1835_612_R->H 127 chr1:66075775:T:A 2721_1898_633_V->D 127 chr1:66075952:G:C 2721_1968_656_K->N 127 chr1:66081746:A:C 2721_2051_684_H->P 127 chr1:66083791:T:C 2721_2357_786_L->P 127 chr1:66085706:G:A 2721_2491_831_D->N 127 oneKG Variants: 127 chr1:66031287:G:T 2721_39_13_W->C 0.000399361 127 chr1:66036266:G:C 2721_151_51_A->P 0.000199681 127 chr1:66036311:A:C 2721_196_66_T->P 0.000199681 127 chr1:66036323:C:A 2721_208_70_P->T 0.000199681 127 chr1:66036389:C:T 2721_274_92_R->W 0.000199681 127 chr1:66036392:A:G 2721_277_93_S->G 0.000199681 127 chr1:66036441:A:G 2721_326_109_K->R 0.320288 127 chr1:66038009:A:G 2721_371_124_D->G 0.00159744 127 chr1:66038068:G:T 2721_430_144_V->L 0.000199681 127 chr1:66038089:C:G 2721_451_151_L->V 0.000199681 127 chr1:66058420:A:C 2721_575_192_E->A 0.000199681 127 chr1:66058503:G:A 2721_658_220_V->I 0.000399361 127 chr1:66058513:A:G 2721_668_223_Q->R 0.415735 127 chr1:66058540:T:G 2721_695_232_I->R 0.000199681 127 chr1:66062158:A:G 2721_731_244_H->R 0.000199681 127 chr1:66064414:G:C 2721_921_307_Q->H 0.000199681 127 chr1:66064482:C:G 2721_989_330_T->R 0.000199681 127 chr1:66067141:A:G 2721_1061_354_Y->C 0.000199681 127 chr1:66067188:A:G 2721_1108_370_M->V 0.000199681 127 chr1:66067269:A:C 2721_1189_397_N->H 0.000399361 127 chr1:66067326:C:T 2721_1246_416_H->Y 0.000199681 127 chr1:66070798:G:A 2721_1481_494_G->D 0.000199681 127 chr1:66070807:A:C 2721_1490_497_E->A 0.000199681 127 chr1:66070848:A:G 2721_1531_511_M->V 0.000399361 127 chr1:66070854:A:G 2721_1537_513_I->V 0.000199681 127 chr1:66074545:G:T 2721_1713_571_Q->H 0.000199681 127 chr1:66075690:G:T 2721_1813_605_A->S 0.000199681 127 chr1:66075712:G:A 2721_1835_612_R->H 0.000998403 127 chr1:66075952:G:C 2721_1968_656_K->N 0.142372 127 chr1:66081763:A:G 2721_2068_690_T->A 0.000199681 127 chr1:66081791:C:T 2721_2096_699_T->M 0.00978435 127 chr1:66083655:G:A 2721_2221_741_V->M 0.000199681 127 chr1:66083713:T:G 2721_2279_760_L->R 0.000199681 127 chr1:66091813:C:G 2721_2681_894_P->R 0.000199681 127 na12878 Variants: 127 chr1:66058513:A:G 2721_668_223_Q->R 127 snyder Variants: 127 chr1:66058513:A:G 2721_668_223_Q->R 128 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116678_ENST00000371059 gene_Name: LEPR_HUMAN 128 list of pdbs: 128 3V6O pdb_description: 14-Mar-12 X-ray 1.950 Leptin receptor-antibody complex 128 Zimmer Variants: 128 chr1:66058513:A:G 2877_668_223_Q->R 128 chr1:66075952:G:C 2877_1968_656_K->N 128 HGMD Variants: 128 chr1:66074506:G:A 2877_1674_558_W->* 128 chr1:66036441:A:G 2877_326_109_K->R 128 chr1:66058513:A:G 2877_668_223_Q->R 128 chr1:66064439:C:A 2877_946_316_P->T 128 chr1:66067110:G:A 2877_1030_344_V->I 128 chr1:66067306:C:A 2877_1226_409_A->E 128 chr1:66067344:T:C 2877_1264_422_Y->H 128 chr1:66075687:T:G 2877_1810_604_C->G 128 chr1:66075712:G:A 2877_1835_612_R->H 128 chr1:66075775:T:A 2877_1898_633_V->D 128 chr1:66075952:G:C 2877_1968_656_K->N 128 chr1:66081746:A:C 2877_2051_684_H->P 128 chr1:66083791:T:C 2877_2357_786_L->P 128 chr1:66085706:G:A 2877_2491_831_D->N 128 oneKG Variants: 128 chr1:66031287:G:T 2877_39_13_W->C 0.000399361 128 chr1:66036266:G:C 2877_151_51_A->P 0.000199681 128 chr1:66036311:A:C 2877_196_66_T->P 0.000199681 128 chr1:66036323:C:A 2877_208_70_P->T 0.000199681 128 chr1:66036389:C:T 2877_274_92_R->W 0.000199681 128 chr1:66036392:A:G 2877_277_93_S->G 0.000199681 128 chr1:66036441:A:G 2877_326_109_K->R 0.320288 128 chr1:66038009:A:G 2877_371_124_D->G 0.00159744 128 chr1:66038068:G:T 2877_430_144_V->L 0.000199681 128 chr1:66038089:C:G 2877_451_151_L->V 0.000199681 128 chr1:66058420:A:C 2877_575_192_E->A 0.000199681 128 chr1:66058503:G:A 2877_658_220_V->I 0.000399361 128 chr1:66058513:A:G 2877_668_223_Q->R 0.415735 128 chr1:66058540:T:G 2877_695_232_I->R 0.000199681 128 chr1:66062158:A:G 2877_731_244_H->R 0.000199681 128 chr1:66064414:G:C 2877_921_307_Q->H 0.000199681 128 chr1:66064482:C:G 2877_989_330_T->R 0.000199681 128 chr1:66067141:A:G 2877_1061_354_Y->C 0.000199681 128 chr1:66067188:A:G 2877_1108_370_M->V 0.000199681 128 chr1:66067269:A:C 2877_1189_397_N->H 0.000399361 128 chr1:66067326:C:T 2877_1246_416_H->Y 0.000199681 128 chr1:66070798:G:A 2877_1481_494_G->D 0.000199681 128 chr1:66070807:A:C 2877_1490_497_E->A 0.000199681 128 chr1:66070848:A:G 2877_1531_511_M->V 0.000399361 128 chr1:66070854:A:G 2877_1537_513_I->V 0.000199681 128 chr1:66074545:G:T 2877_1713_571_Q->H 0.000199681 128 chr1:66075690:G:T 2877_1813_605_A->S 0.000199681 128 chr1:66075712:G:A 2877_1835_612_R->H 0.000998403 128 chr1:66075952:G:C 2877_1968_656_K->N 0.142372 128 chr1:66081763:A:G 2877_2068_690_T->A 0.000199681 128 chr1:66081791:C:T 2877_2096_699_T->M 0.00978435 128 chr1:66083655:G:A 2877_2221_741_V->M 0.000199681 128 chr1:66083713:T:G 2877_2279_760_L->R 0.000199681 128 chr1:66095939:A:C 2877_2728_910_T->P 0.000199681 128 na12878 Variants: 128 chr1:66058513:A:G 2877_668_223_Q->R 128 snyder Variants: 128 chr1:66058513:A:G 2877_668_223_Q->R 129 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116678_ENST00000371060 gene_Name: LEPR_HUMAN 129 list of pdbs: 129 3V6O pdb_description: 14-Mar-12 X-ray 1.950 Leptin receptor-antibody complex 129 Zimmer Variants: 129 chr1:66058513:A:G 2691_668_223_Q->R 129 chr1:66075952:G:C 2691_1968_656_K->N 129 HGMD Variants: 129 chr1:66074506:G:A 2691_1674_558_W->* 129 chr1:66036441:A:G 2691_326_109_K->R 129 chr1:66058513:A:G 2691_668_223_Q->R 129 chr1:66064439:C:A 2691_946_316_P->T 129 chr1:66067110:G:A 2691_1030_344_V->I 129 chr1:66067306:C:A 2691_1226_409_A->E 129 chr1:66067344:T:C 2691_1264_422_Y->H 129 chr1:66075687:T:G 2691_1810_604_C->G 129 chr1:66075712:G:A 2691_1835_612_R->H 129 chr1:66075775:T:A 2691_1898_633_V->D 129 chr1:66075952:G:C 2691_1968_656_K->N 129 chr1:66081746:A:C 2691_2051_684_H->P 129 chr1:66083791:T:C 2691_2357_786_L->P 129 chr1:66085706:G:A 2691_2491_831_D->N 129 oneKG Variants: 129 chr1:66031287:G:T 2691_39_13_W->C 0.000399361 129 chr1:66036266:G:C 2691_151_51_A->P 0.000199681 129 chr1:66036311:A:C 2691_196_66_T->P 0.000199681 129 chr1:66036323:C:A 2691_208_70_P->T 0.000199681 129 chr1:66036389:C:T 2691_274_92_R->W 0.000199681 129 chr1:66036392:A:G 2691_277_93_S->G 0.000199681 129 chr1:66036441:A:G 2691_326_109_K->R 0.320288 129 chr1:66038009:A:G 2691_371_124_D->G 0.00159744 129 chr1:66038068:G:T 2691_430_144_V->L 0.000199681 129 chr1:66038089:C:G 2691_451_151_L->V 0.000199681 129 chr1:66058420:A:C 2691_575_192_E->A 0.000199681 129 chr1:66058503:G:A 2691_658_220_V->I 0.000399361 129 chr1:66058513:A:G 2691_668_223_Q->R 0.415735 129 chr1:66058540:T:G 2691_695_232_I->R 0.000199681 129 chr1:66062158:A:G 2691_731_244_H->R 0.000199681 129 chr1:66064414:G:C 2691_921_307_Q->H 0.000199681 129 chr1:66064482:C:G 2691_989_330_T->R 0.000199681 129 chr1:66067141:A:G 2691_1061_354_Y->C 0.000199681 129 chr1:66067188:A:G 2691_1108_370_M->V 0.000199681 129 chr1:66067269:A:C 2691_1189_397_N->H 0.000399361 129 chr1:66067326:C:T 2691_1246_416_H->Y 0.000199681 129 chr1:66070798:G:A 2691_1481_494_G->D 0.000199681 129 chr1:66070807:A:C 2691_1490_497_E->A 0.000199681 129 chr1:66070848:A:G 2691_1531_511_M->V 0.000399361 129 chr1:66070854:A:G 2691_1537_513_I->V 0.000199681 129 chr1:66074545:G:T 2691_1713_571_Q->H 0.000199681 129 chr1:66075690:G:T 2691_1813_605_A->S 0.000199681 129 chr1:66075712:G:A 2691_1835_612_R->H 0.000998403 129 chr1:66075952:G:C 2691_1968_656_K->N 0.142372 129 chr1:66081763:A:G 2691_2068_690_T->A 0.000199681 129 chr1:66081791:C:T 2691_2096_699_T->M 0.00978435 129 chr1:66083655:G:A 2691_2221_741_V->M 0.000199681 129 chr1:66083713:T:G 2691_2279_760_L->R 0.000199681 129 na12878 Variants: 129 chr1:66058513:A:G 2691_668_223_Q->R 129 snyder Variants: 129 chr1:66058513:A:G 2691_668_223_Q->R 130 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116678_ENST00000349533 gene_Name: LEPR_HUMAN 130 list of pdbs: 130 3V6O pdb_description: 14-Mar-12 X-ray 1.950 Leptin receptor-antibody complex 130 Zimmer Variants: 130 chr1:66058513:A:G 3498_668_223_Q->R 130 chr1:66075952:G:C 3498_1968_656_K->N 130 HGMD Variants: 130 chr1:66074506:G:A 3498_1674_558_W->* 130 chr1:66036441:A:G 3498_326_109_K->R 130 chr1:66058513:A:G 3498_668_223_Q->R 130 chr1:66064439:C:A 3498_946_316_P->T 130 chr1:66067110:G:A 3498_1030_344_V->I 130 chr1:66067306:C:A 3498_1226_409_A->E 130 chr1:66067344:T:C 3498_1264_422_Y->H 130 chr1:66075687:T:G 3498_1810_604_C->G 130 chr1:66075712:G:A 3498_1835_612_R->H 130 chr1:66075775:T:A 3498_1898_633_V->D 130 chr1:66075952:G:C 3498_1968_656_K->N 130 chr1:66081746:A:C 3498_2051_684_H->P 130 chr1:66083791:T:C 3498_2357_786_L->P 130 chr1:66085706:G:A 3498_2491_831_D->N 130 oneKG Variants: 130 chr1:66031287:G:T 3498_39_13_W->C 0.000399361 130 chr1:66036266:G:C 3498_151_51_A->P 0.000199681 130 chr1:66036311:A:C 3498_196_66_T->P 0.000199681 130 chr1:66036323:C:A 3498_208_70_P->T 0.000199681 130 chr1:66036389:C:T 3498_274_92_R->W 0.000199681 130 chr1:66036392:A:G 3498_277_93_S->G 0.000199681 130 chr1:66036441:A:G 3498_326_109_K->R 0.320288 130 chr1:66038009:A:G 3498_371_124_D->G 0.00159744 130 chr1:66038068:G:T 3498_430_144_V->L 0.000199681 130 chr1:66038089:C:G 3498_451_151_L->V 0.000199681 130 chr1:66058420:A:C 3498_575_192_E->A 0.000199681 130 chr1:66058503:G:A 3498_658_220_V->I 0.000399361 130 chr1:66058513:A:G 3498_668_223_Q->R 0.415735 130 chr1:66058540:T:G 3498_695_232_I->R 0.000199681 130 chr1:66062158:A:G 3498_731_244_H->R 0.000199681 130 chr1:66064414:G:C 3498_921_307_Q->H 0.000199681 130 chr1:66064482:C:G 3498_989_330_T->R 0.000199681 130 chr1:66067141:A:G 3498_1061_354_Y->C 0.000199681 130 chr1:66067188:A:G 3498_1108_370_M->V 0.000199681 130 chr1:66067269:A:C 3498_1189_397_N->H 0.000399361 130 chr1:66067326:C:T 3498_1246_416_H->Y 0.000199681 130 chr1:66070798:G:A 3498_1481_494_G->D 0.000199681 130 chr1:66070807:A:C 3498_1490_497_E->A 0.000199681 130 chr1:66070848:A:G 3498_1531_511_M->V 0.000399361 130 chr1:66070854:A:G 3498_1537_513_I->V 0.000199681 130 chr1:66074545:G:T 3498_1713_571_Q->H 0.000199681 130 chr1:66075690:G:T 3498_1813_605_A->S 0.000199681 130 chr1:66075712:G:A 3498_1835_612_R->H 0.000998403 130 chr1:66075952:G:C 3498_1968_656_K->N 0.142372 130 chr1:66081763:A:G 3498_2068_690_T->A 0.000199681 130 chr1:66081791:C:T 3498_2096_699_T->M 0.00978435 130 chr1:66083655:G:A 3498_2221_741_V->M 0.000199681 130 chr1:66083713:T:G 3498_2279_760_L->R 0.000199681 130 chr1:66101898:A:G 3498_2698_900_I->V 0.000599042 130 chr1:66101959:A:G 3498_2759_920_E->G 0.000798722 130 chr1:66102019:T:C 3498_2819_940_V->A 0.000199681 130 chr1:66102163:C:T 3498_2963_988_T->M 0.000199681 130 chr1:66102219:A:T 3498_3019_1007_S->C 0.00179712 130 chr1:66102241:C:G 3498_3041_1014_S->C 0.000998403 130 chr1:66102425:G:C 3498_3225_1075_K->N 0.000199681 130 chr1:66102447:A:G 3498_3247_1083_T->A 0.000599042 130 chr1:66102679:T:C 3498_3479_1160_M->T 0.000399361 130 na12878 Variants: 130 chr1:66058513:A:G 3498_668_223_Q->R 130 snyder Variants: 130 chr1:66058513:A:G 3498_668_223_Q->R 131 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116678_ENST00000371058 gene_Name: LEPR_HUMAN 131 list of pdbs: 131 3V6O pdb_description: 14-Mar-12 X-ray 1.950 Leptin receptor-antibody complex 131 Zimmer Variants: 131 chr1:66058513:A:G 2721_668_223_Q->R;HUB=PPI®GENE=LEPR;CDSS=3 131 chr1:66075952:G:C 2721_1968_656_K->N;HUB=PPI®GENE=LEPR;CDSS=2 131 HGMD Variants: 131 chr1:66074506:G:A 2721_1674_558_W->* 131 chr1:66036441:A:G 2721_326_109_K->R 131 chr1:66058513:A:G 2721_668_223_Q->R 131 chr1:66064439:C:A 2721_946_316_P->T 131 chr1:66067110:G:A 2721_1030_344_V->I 131 chr1:66067306:C:A 2721_1226_409_A->E 131 chr1:66067344:T:C 2721_1264_422_Y->H 131 chr1:66075687:T:G 2721_1810_604_C->G 131 chr1:66075712:G:A 2721_1835_612_R->H 131 chr1:66075775:T:A 2721_1898_633_V->D 131 chr1:66075952:G:C 2721_1968_656_K->N 131 chr1:66081746:A:C 2721_2051_684_H->P 131 chr1:66083791:T:C 2721_2357_786_L->P 131 chr1:66085706:G:A 2721_2491_831_D->N 131 oneKG Variants: 131 chr1:66031287:G:T 2721_39_13_W->C 0.000399361 131 chr1:66036266:G:C 2721_151_51_A->P 0.000199681 131 chr1:66036311:A:C 2721_196_66_T->P 0.000199681 131 chr1:66036323:C:A 2721_208_70_P->T 0.000199681 131 chr1:66036389:C:T 2721_274_92_R->W 0.000199681 131 chr1:66036392:A:G 2721_277_93_S->G 0.000199681 131 chr1:66036441:A:G 2721_326_109_K->R 0.320288 131 chr1:66038009:A:G 2721_371_124_D->G 0.00159744 131 chr1:66038068:G:T 2721_430_144_V->L 0.000199681 131 chr1:66038089:C:G 2721_451_151_L->V 0.000199681 131 chr1:66058420:A:C 2721_575_192_E->A 0.000199681 131 chr1:66058503:G:A 2721_658_220_V->I 0.000399361 131 chr1:66058513:A:G 2721_668_223_Q->R 0.415735 131 chr1:66058540:T:G 2721_695_232_I->R 0.000199681 131 chr1:66062158:A:G 2721_731_244_H->R 0.000199681 131 chr1:66064414:G:C 2721_921_307_Q->H 0.000199681 131 chr1:66064482:C:G 2721_989_330_T->R 0.000199681 131 chr1:66067141:A:G 2721_1061_354_Y->C 0.000199681 131 chr1:66067188:A:G 2721_1108_370_M->V 0.000199681 131 chr1:66067269:A:C 2721_1189_397_N->H 0.000399361 131 chr1:66067326:C:T 2721_1246_416_H->Y 0.000199681 131 chr1:66070798:G:A 2721_1481_494_G->D 0.000199681 131 chr1:66070807:A:C 2721_1490_497_E->A 0.000199681 131 chr1:66070848:A:G 2721_1531_511_M->V 0.000399361 131 chr1:66070854:A:G 2721_1537_513_I->V 0.000199681 131 chr1:66074545:G:T 2721_1713_571_Q->H 0.000199681 131 chr1:66075690:G:T 2721_1813_605_A->S 0.000199681 131 chr1:66075712:G:A 2721_1835_612_R->H 0.000998403 131 chr1:66075952:G:C 2721_1968_656_K->N 0.142372 131 chr1:66081763:A:G 2721_2068_690_T->A 0.000199681 131 chr1:66081791:C:T 2721_2096_699_T->M 0.00978435 131 chr1:66083655:G:A 2721_2221_741_V->M 0.000199681 131 chr1:66083713:T:G 2721_2279_760_L->R 0.000199681 131 chr1:66091813:C:G 2721_2681_894_P->R 0.000199681 131 na12878 Variants: 131 chr1:66058513:A:G 2721_668_223_Q->R 131 snyder Variants: 131 chr1:66058513:A:G 2721_668_223_Q->R 132 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000371227 gene_Name: SRBS1_HUMAN 132 list of pdbs: 132 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 132 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 132 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 132 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 132 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 132 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 132 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 132 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 132 Zimmer Variants: 132 chr10:97096357:C:T 3801_3422_1141_G->E 132 chr10:97192324:A:G 3801_182_61_L->P 132 HGMD Variants: 132 chr10:97174352:T:C 3801_709_237_T->A 132 oneKG Variants: 132 chr10:97096778:G:A 3801_3001_1001_R->* 0.000199681 132 chr10:97074865:T:C 3801_3752_1251_K->R 0.0179712 132 chr10:97078128:C:A 3801_3682_1228_D->Y 0.000399361 132 chr10:97096319:C:T 3801_3460_1154_E->K 0.000199681 132 chr10:97096334:G:A 3801_3445_1149_R->W 0.000199681 132 chr10:97096357:C:T 3801_3422_1141_G->E 0.00838658 132 chr10:97096367:C:T 3801_3412_1138_A->T 0.000199681 132 chr10:97096498:G:T 3801_3281_1094_P->H 0.000199681 132 chr10:97096508:C:T 3801_3271_1091_E->K 0.000199681 132 chr10:97096555:C:T 3801_3224_1075_R->H 0.00858626 132 chr10:97096630:G:A 3801_3149_1050_P->L 0.00119808 132 chr10:97096645:C:T 3801_3134_1045_S->N 0.000599042 132 chr10:97096672:G:A 3801_3107_1036_T->M 0.000199681 132 chr10:97096814:G:A 3801_2965_989_L->F 0.000199681 132 chr10:97096822:G:C 3801_2957_986_S->C 0.00159744 132 chr10:97096970:C:T 3801_2809_937_A->T 0.000399361 132 chr10:97098897:C:T 3801_2720_907_S->N 0.000199681 132 chr10:97098918:G:A 3801_2699_900_P->L 0.00139776 132 chr10:97098942:A:G 3801_2675_892_M->T 0.000199681 132 chr10:97101103:C:A 3801_2471_824_G->V 0.000798722 132 chr10:97101142:T:C 3801_2432_811_Q->R 0.00479233 132 chr10:97101335:G:A 3801_2392_798_R->C 0.000199681 132 chr10:97110995:C:T 3801_2215_739_D->N 0.000199681 132 chr10:97111076:C:G 3801_2134_712_A->P 0.000199681 132 chr10:97111123:G:A 3801_2087_696_A->V 0.000199681 132 chr10:97114706:T:C 3801_2009_670_H->R 0.000199681 132 chr10:97117542:G:T 3801_1836_612_F->L 0.000399361 132 chr10:97117549:G:T 3801_1829_610_S->Y 0.000199681 132 chr10:97131091:C:T 3801_1759_587_V->M 0.000199681 132 chr10:97131117:G:A 3801_1733_578_T->M 0.000798722 132 chr10:97131155:G:C 3801_1695_565_C->W 0.000199681 132 chr10:97135752:G:A 3801_1577_526_S->L 0.000199681 132 chr10:97135806:T:A 3801_1523_508_D->V 0.000199681 132 chr10:97141456:T:C 3801_1501_501_T->A 0.000599042 132 chr10:97141462:C:T 3801_1495_499_V->I 0.000199681 132 chr10:97141486:C:T 3801_1471_491_E->K 0.000199681 132 chr10:97141492:T:C 3801_1465_489_I->V 0.000199681 132 chr10:97141509:C:T 3801_1448_483_R->H 0.000199681 132 chr10:97141519:T:C 3801_1438_480_R->G 0.000199681 132 chr10:97143751:C:G 3801_1391_464_S->T 0.000199681 132 chr10:97143761:G:T 3801_1381_461_L->M 0.000199681 132 chr10:97143796:G:A 3801_1346_449_S->L 0.000199681 132 chr10:97143826:T:C 3801_1316_439_Y->C 0.0219649 132 chr10:97143847:C:T 3801_1295_432_R->H 0.000199681 132 chr10:97144031:C:T 3801_1234_412_D->N 0.000399361 132 chr10:97158836:C:T 3801_1096_366_V->M 0.00239617 132 chr10:97158875:T:C 3801_1057_353_K->E 0.000199681 132 chr10:97158920:C:T 3801_1012_338_E->K 0.000199681 132 chr10:97165884:T:C 3801_976_326_S->G 0.000199681 132 chr10:97170422:T:C 3801_923_308_N->S 0.000199681 132 chr10:97174258:G:A 3801_803_268_S->L 0.000199681 132 chr10:97174306:G:A 3801_755_252_P->L 0.00678914 132 chr10:97174316:G:T 3801_745_249_P->T 0.000599042 132 chr10:97174330:G:A 3801_731_244_P->L 0.000399361 132 chr10:97174351:G:A 3801_710_237_T->M 0.000199681 132 chr10:97174352:T:C 3801_709_237_T->A 0.160144 132 chr10:97174385:G:C 3801_676_226_R->G 0.00179712 132 chr10:97174507:G:A 3801_554_185_P->L 0.000199681 132 chr10:97174537:C:A 3801_524_175_G->V 0.0628994 132 chr10:97174541:C:T 3801_520_174_E->K 0.000399361 132 chr10:97174591:G:A 3801_470_157_P->L 0.000199681 132 chr10:97181719:T:C 3801_440_147_Q->R 0.000599042 132 chr10:97181727:G:C 3801_432_144_D->E 0.000199681 132 chr10:97181761:C:A 3801_398_133_G->V 0.000199681 132 chr10:97192217:C:T 3801_289_97_E->K 0.000199681 132 chr10:97192237:G:A 3801_269_90_P->L 0.00339457 132 chr10:97192285:C:T 3801_221_74_R->Q 0.000399361 132 chr10:97192324:A:G 3801_182_61_L->P 0.019169 132 chr10:97194390:A:G 3801_161_54_V->A 0.000199681 132 na12878 Variants: 132 chr10:97192324:A:G 3801_182_61_L->P 132 snyder Variants: 132 chr10:97192324:A:G 3801_182_61_L->P 133 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000371247 gene_Name: SRBS1_HUMAN 133 list of pdbs: 133 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 133 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 133 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 133 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 133 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 133 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 133 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 133 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 133 Zimmer Variants: 133 chr10:97096357:C:T 3879_3560_1187_G->E;HUB=PPI;GENE=SORBS1;CDSS=3 133 chr10:97192324:A:G 3879_182_61_L->P 133 HGMD Variants: 133 chr10:97174352:T:C 3879_709_237_T->A 133 oneKG Variants: 133 chr10:97096778:G:A 3879_3139_1047_R->* 0.000199681 133 chr10:97074865:T:C 3879_3830_1277_K->R 0.0179712 133 chr10:97078128:C:A 3879_3760_1254_D->Y 0.000399361 133 chr10:97096319:C:T 3879_3598_1200_E->K 0.000199681 133 chr10:97096334:G:A 3879_3583_1195_R->W 0.000199681 133 chr10:97096357:C:T 3879_3560_1187_G->E 0.00838658 133 chr10:97096367:C:T 3879_3550_1184_A->T 0.000199681 133 chr10:97096498:G:T 3879_3419_1140_P->H 0.000199681 133 chr10:97096508:C:T 3879_3409_1137_E->K 0.000199681 133 chr10:97096555:C:T 3879_3362_1121_R->H 0.00858626 133 chr10:97096630:G:A 3879_3287_1096_P->L 0.00119808 133 chr10:97096645:C:T 3879_3272_1091_S->N 0.000599042 133 chr10:97096672:G:A 3879_3245_1082_T->M 0.000199681 133 chr10:97096814:G:A 3879_3103_1035_L->F 0.000199681 133 chr10:97096822:G:C 3879_3095_1032_S->C 0.00159744 133 chr10:97096970:C:T 3879_2947_983_A->T 0.000399361 133 chr10:97098897:C:T 3879_2858_953_S->N 0.000199681 133 chr10:97098918:G:A 3879_2837_946_P->L 0.00139776 133 chr10:97098942:A:G 3879_2813_938_M->T 0.000199681 133 chr10:97101103:C:A 3879_2609_870_G->V 0.000798722 133 chr10:97101142:T:C 3879_2570_857_Q->R 0.00479233 133 chr10:97101335:G:A 3879_2530_844_R->C 0.000199681 133 chr10:97110995:C:T 3879_2353_785_D->N 0.000199681 133 chr10:97111076:C:G 3879_2272_758_A->P 0.000199681 133 chr10:97111123:G:A 3879_2225_742_A->V 0.000199681 133 chr10:97114706:T:C 3879_2147_716_H->R 0.000199681 133 chr10:97117542:G:T 3879_1974_658_F->L 0.000399361 133 chr10:97117549:G:T 3879_1967_656_S->Y 0.000199681 133 chr10:97131091:C:T 3879_1897_633_V->M 0.000199681 133 chr10:97131117:G:A 3879_1871_624_T->M 0.000798722 133 chr10:97131155:G:C 3879_1833_611_C->W 0.000199681 133 chr10:97135752:G:A 3879_1715_572_S->L 0.000199681 133 chr10:97135806:T:A 3879_1661_554_D->V 0.000199681 133 chr10:97141456:T:C 3879_1639_547_T->A 0.000599042 133 chr10:97141462:C:T 3879_1633_545_V->I 0.000199681 133 chr10:97141486:C:T 3879_1609_537_E->K 0.000199681 133 chr10:97141492:T:C 3879_1603_535_I->V 0.000199681 133 chr10:97141509:C:T 3879_1586_529_R->H 0.000199681 133 chr10:97141519:T:C 3879_1576_526_R->G 0.000199681 133 chr10:97143751:C:G 3879_1529_510_S->T 0.000199681 133 chr10:97143761:G:T 3879_1519_507_L->M 0.000199681 133 chr10:97143796:G:A 3879_1484_495_S->L 0.000199681 133 chr10:97143826:T:C 3879_1454_485_Y->C 0.0219649 133 chr10:97143847:C:T 3879_1433_478_R->H 0.000199681 133 chr10:97144031:C:T 3879_1372_458_D->N 0.000399361 133 chr10:97154424:T:C 3879_1304_435_N->S 0.00139776 133 chr10:97154830:T:C 3879_1225_409_T->A 0.00159744 133 chr10:97158836:C:T 3879_1096_366_V->M 0.00239617 133 chr10:97158875:T:C 3879_1057_353_K->E 0.000199681 133 chr10:97158920:C:T 3879_1012_338_E->K 0.000199681 133 chr10:97165884:T:C 3879_976_326_S->G 0.000199681 133 chr10:97170422:T:C 3879_923_308_N->S 0.000199681 133 chr10:97174258:G:A 3879_803_268_S->L 0.000199681 133 chr10:97174306:G:A 3879_755_252_P->L 0.00678914 133 chr10:97174316:G:T 3879_745_249_P->T 0.000599042 133 chr10:97174330:G:A 3879_731_244_P->L 0.000399361 133 chr10:97174351:G:A 3879_710_237_T->M 0.000199681 133 chr10:97174352:T:C 3879_709_237_T->A 0.160144 133 chr10:97174385:G:C 3879_676_226_R->G 0.00179712 133 chr10:97174507:G:A 3879_554_185_P->L 0.000199681 133 chr10:97174537:C:A 3879_524_175_G->V 0.0628994 133 chr10:97174541:C:T 3879_520_174_E->K 0.000399361 133 chr10:97174591:G:A 3879_470_157_P->L 0.000199681 133 chr10:97181719:T:C 3879_440_147_Q->R 0.000599042 133 chr10:97181727:G:C 3879_432_144_D->E 0.000199681 133 chr10:97181761:C:A 3879_398_133_G->V 0.000199681 133 chr10:97192217:C:T 3879_289_97_E->K 0.000199681 133 chr10:97192237:G:A 3879_269_90_P->L 0.00339457 133 chr10:97192285:C:T 3879_221_74_R->Q 0.000399361 133 chr10:97192324:A:G 3879_182_61_L->P 0.019169 133 chr10:97194390:A:G 3879_161_54_V->A 0.000199681 133 na12878 Variants: 133 chr10:97192324:A:G 3879_182_61_L->P 133 snyder Variants: 133 chr10:97192324:A:G 3879_182_61_L->P 134 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000371246 gene_Name: SRBS1_HUMAN 134 list of pdbs: 134 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 134 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 134 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 134 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 134 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 134 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 134 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 134 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 134 Zimmer Variants: 134 chr10:97096357:C:T 3456_3137_1046_G->E 134 chr10:97192324:A:G 3456_182_61_L->P 134 HGMD Variants: 134 chr10:97174352:T:C 3456_709_237_T->A 134 oneKG Variants: 134 chr10:97074865:T:C 3456_3407_1136_K->R 0.0179712 134 chr10:97078128:C:A 3456_3337_1113_D->Y 0.000399361 134 chr10:97096319:C:T 3456_3175_1059_E->K 0.000199681 134 chr10:97096334:G:A 3456_3160_1054_R->W 0.000199681 134 chr10:97096357:C:T 3456_3137_1046_G->E 0.00838658 134 chr10:97096367:C:T 3456_3127_1043_A->T 0.000199681 134 chr10:97096498:G:T 3456_2996_999_P->H 0.000199681 134 chr10:97096508:C:T 3456_2986_996_E->K 0.000199681 134 chr10:97096555:C:T 3456_2939_980_R->H 0.00858626 134 chr10:97098897:C:T 3456_2924_975_S->N 0.000199681 134 chr10:97098918:G:A 3456_2903_968_P->L 0.00139776 134 chr10:97098942:A:G 3456_2879_960_M->T 0.000199681 134 chr10:97101103:C:A 3456_2675_892_G->V 0.000798722 134 chr10:97101142:T:C 3456_2636_879_Q->R 0.00479233 134 chr10:97101335:G:A 3456_2596_866_R->C 0.000199681 134 chr10:97110995:C:T 3456_2419_807_D->N 0.000199681 134 chr10:97111076:C:G 3456_2338_780_A->P 0.000199681 134 chr10:97111123:G:A 3456_2291_764_A->V 0.000199681 134 chr10:97114706:T:C 3456_2213_738_H->R 0.000199681 134 chr10:97117542:G:T 3456_2040_680_F->L 0.000399361 134 chr10:97117549:G:T 3456_2033_678_S->Y 0.000199681 134 chr10:97131091:C:T 3456_1963_655_V->M 0.000199681 134 chr10:97131117:G:A 3456_1937_646_T->M 0.000798722 134 chr10:97131155:G:C 3456_1899_633_C->W 0.000199681 134 chr10:97135752:G:A 3456_1781_594_S->L 0.000199681 134 chr10:97135806:T:A 3456_1727_576_D->V 0.000199681 134 chr10:97141456:T:C 3456_1705_569_T->A 0.000599042 134 chr10:97141462:C:T 3456_1699_567_V->I 0.000199681 134 chr10:97141486:C:T 3456_1675_559_E->K 0.000199681 134 chr10:97141492:T:C 3456_1669_557_I->V 0.000199681 134 chr10:97141509:C:T 3456_1652_551_R->H 0.000199681 134 chr10:97141519:T:C 3456_1642_548_R->G 0.000199681 134 chr10:97143751:C:G 3456_1595_532_S->T 0.000199681 134 chr10:97143761:G:T 3456_1585_529_L->M 0.000199681 134 chr10:97143796:G:A 3456_1550_517_S->L 0.000199681 134 chr10:97143826:T:C 3456_1520_507_Y->C 0.0219649 134 chr10:97143847:C:T 3456_1499_500_R->H 0.000199681 134 chr10:97144031:C:T 3456_1438_480_D->N 0.000399361 134 chr10:97146820:C:A 3456_1354_452_A->S 0.192492 134 chr10:97154830:T:C 3456_1225_409_T->A 0.00159744 134 chr10:97158836:C:T 3456_1096_366_V->M 0.00239617 134 chr10:97158875:T:C 3456_1057_353_K->E 0.000199681 134 chr10:97158920:C:T 3456_1012_338_E->K 0.000199681 134 chr10:97165884:T:C 3456_976_326_S->G 0.000199681 134 chr10:97170422:T:C 3456_923_308_N->S 0.000199681 134 chr10:97174258:G:A 3456_803_268_S->L 0.000199681 134 chr10:97174306:G:A 3456_755_252_P->L 0.00678914 134 chr10:97174316:G:T 3456_745_249_P->T 0.000599042 134 chr10:97174330:G:A 3456_731_244_P->L 0.000399361 134 chr10:97174351:G:A 3456_710_237_T->M 0.000199681 134 chr10:97174352:T:C 3456_709_237_T->A 0.160144 134 chr10:97174385:G:C 3456_676_226_R->G 0.00179712 134 chr10:97174507:G:A 3456_554_185_P->L 0.000199681 134 chr10:97174537:C:A 3456_524_175_G->V 0.0628994 134 chr10:97174541:C:T 3456_520_174_E->K 0.000399361 134 chr10:97174591:G:A 3456_470_157_P->L 0.000199681 134 chr10:97181719:T:C 3456_440_147_Q->R 0.000599042 134 chr10:97181727:G:C 3456_432_144_D->E 0.000199681 134 chr10:97181761:C:A 3456_398_133_G->V 0.000199681 134 chr10:97192217:C:T 3456_289_97_E->K 0.000199681 134 chr10:97192237:G:A 3456_269_90_P->L 0.00339457 134 chr10:97192285:C:T 3456_221_74_R->Q 0.000399361 134 chr10:97192324:A:G 3456_182_61_L->P 0.019169 134 chr10:97194390:A:G 3456_161_54_V->A 0.000199681 134 na12878 Variants: 134 chr10:97192324:A:G 3456_182_61_L->P 134 chr10:97146820:C:A 3456_1354_452_A->S 134 snyder Variants: 134 chr10:97192324:A:G 3456_182_61_L->P 135 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000361941 gene_Name: SRBS1_HUMAN 135 list of pdbs: 135 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 135 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 135 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 135 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 135 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 135 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 135 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 135 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 135 Zimmer Variants: 135 chr10:97096357:C:T 3879_3560_1187_G->E 135 chr10:97192324:A:G 3879_182_61_L->P 135 HGMD Variants: 135 chr10:97174352:T:C 3879_709_237_T->A 135 oneKG Variants: 135 chr10:97096778:G:A 3879_3139_1047_R->* 0.000199681 135 chr10:97074865:T:C 3879_3830_1277_K->R 0.0179712 135 chr10:97078128:C:A 3879_3760_1254_D->Y 0.000399361 135 chr10:97096319:C:T 3879_3598_1200_E->K 0.000199681 135 chr10:97096334:G:A 3879_3583_1195_R->W 0.000199681 135 chr10:97096357:C:T 3879_3560_1187_G->E 0.00838658 135 chr10:97096367:C:T 3879_3550_1184_A->T 0.000199681 135 chr10:97096498:G:T 3879_3419_1140_P->H 0.000199681 135 chr10:97096508:C:T 3879_3409_1137_E->K 0.000199681 135 chr10:97096555:C:T 3879_3362_1121_R->H 0.00858626 135 chr10:97096630:G:A 3879_3287_1096_P->L 0.00119808 135 chr10:97096645:C:T 3879_3272_1091_S->N 0.000599042 135 chr10:97096672:G:A 3879_3245_1082_T->M 0.000199681 135 chr10:97096814:G:A 3879_3103_1035_L->F 0.000199681 135 chr10:97096822:G:C 3879_3095_1032_S->C 0.00159744 135 chr10:97096970:C:T 3879_2947_983_A->T 0.000399361 135 chr10:97098897:C:T 3879_2858_953_S->N 0.000199681 135 chr10:97098918:G:A 3879_2837_946_P->L 0.00139776 135 chr10:97098942:A:G 3879_2813_938_M->T 0.000199681 135 chr10:97101103:C:A 3879_2609_870_G->V 0.000798722 135 chr10:97101142:T:C 3879_2570_857_Q->R 0.00479233 135 chr10:97101335:G:A 3879_2530_844_R->C 0.000199681 135 chr10:97110995:C:T 3879_2353_785_D->N 0.000199681 135 chr10:97111076:C:G 3879_2272_758_A->P 0.000199681 135 chr10:97111123:G:A 3879_2225_742_A->V 0.000199681 135 chr10:97114706:T:C 3879_2147_716_H->R 0.000199681 135 chr10:97117542:G:T 3879_1974_658_F->L 0.000399361 135 chr10:97117549:G:T 3879_1967_656_S->Y 0.000199681 135 chr10:97131091:C:T 3879_1897_633_V->M 0.000199681 135 chr10:97131117:G:A 3879_1871_624_T->M 0.000798722 135 chr10:97131155:G:C 3879_1833_611_C->W 0.000199681 135 chr10:97135752:G:A 3879_1715_572_S->L 0.000199681 135 chr10:97135806:T:A 3879_1661_554_D->V 0.000199681 135 chr10:97141456:T:C 3879_1639_547_T->A 0.000599042 135 chr10:97141462:C:T 3879_1633_545_V->I 0.000199681 135 chr10:97141486:C:T 3879_1609_537_E->K 0.000199681 135 chr10:97141492:T:C 3879_1603_535_I->V 0.000199681 135 chr10:97141509:C:T 3879_1586_529_R->H 0.000199681 135 chr10:97141519:T:C 3879_1576_526_R->G 0.000199681 135 chr10:97143751:C:G 3879_1529_510_S->T 0.000199681 135 chr10:97143761:G:T 3879_1519_507_L->M 0.000199681 135 chr10:97143796:G:A 3879_1484_495_S->L 0.000199681 135 chr10:97143826:T:C 3879_1454_485_Y->C 0.0219649 135 chr10:97143847:C:T 3879_1433_478_R->H 0.000199681 135 chr10:97144031:C:T 3879_1372_458_D->N 0.000399361 135 chr10:97154424:T:C 3879_1304_435_N->S 0.00139776 135 chr10:97154830:T:C 3879_1225_409_T->A 0.00159744 135 chr10:97158836:C:T 3879_1096_366_V->M 0.00239617 135 chr10:97158875:T:C 3879_1057_353_K->E 0.000199681 135 chr10:97158920:C:T 3879_1012_338_E->K 0.000199681 135 chr10:97165884:T:C 3879_976_326_S->G 0.000199681 135 chr10:97170422:T:C 3879_923_308_N->S 0.000199681 135 chr10:97174258:G:A 3879_803_268_S->L 0.000199681 135 chr10:97174306:G:A 3879_755_252_P->L 0.00678914 135 chr10:97174316:G:T 3879_745_249_P->T 0.000599042 135 chr10:97174330:G:A 3879_731_244_P->L 0.000399361 135 chr10:97174351:G:A 3879_710_237_T->M 0.000199681 135 chr10:97174352:T:C 3879_709_237_T->A 0.160144 135 chr10:97174385:G:C 3879_676_226_R->G 0.00179712 135 chr10:97174507:G:A 3879_554_185_P->L 0.000199681 135 chr10:97174537:C:A 3879_524_175_G->V 0.0628994 135 chr10:97174541:C:T 3879_520_174_E->K 0.000399361 135 chr10:97174591:G:A 3879_470_157_P->L 0.000199681 135 chr10:97181719:T:C 3879_440_147_Q->R 0.000599042 135 chr10:97181727:G:C 3879_432_144_D->E 0.000199681 135 chr10:97181761:C:A 3879_398_133_G->V 0.000199681 135 chr10:97192217:C:T 3879_289_97_E->K 0.000199681 135 chr10:97192237:G:A 3879_269_90_P->L 0.00339457 135 chr10:97192285:C:T 3879_221_74_R->Q 0.000399361 135 chr10:97192324:A:G 3879_182_61_L->P 0.019169 135 chr10:97194390:A:G 3879_161_54_V->A 0.000199681 135 na12878 Variants: 135 chr10:97192324:A:G 3879_182_61_L->P 135 snyder Variants: 135 chr10:97192324:A:G 3879_182_61_L->P 136 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000277982 gene_Name: SRBS1_HUMAN 136 list of pdbs: 136 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 136 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 136 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 136 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 136 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 136 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 136 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 136 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 136 Zimmer Variants: 136 chr10:97096357:C:T 3456_3137_1046_G->E 136 chr10:97192324:A:G 3456_182_61_L->P 136 HGMD Variants: 136 chr10:97174352:T:C 3456_709_237_T->A 136 oneKG Variants: 136 chr10:97074865:T:C 3456_3407_1136_K->R 0.0179712 136 chr10:97078128:C:A 3456_3337_1113_D->Y 0.000399361 136 chr10:97096319:C:T 3456_3175_1059_E->K 0.000199681 136 chr10:97096334:G:A 3456_3160_1054_R->W 0.000199681 136 chr10:97096357:C:T 3456_3137_1046_G->E 0.00838658 136 chr10:97096367:C:T 3456_3127_1043_A->T 0.000199681 136 chr10:97096498:G:T 3456_2996_999_P->H 0.000199681 136 chr10:97096508:C:T 3456_2986_996_E->K 0.000199681 136 chr10:97096555:C:T 3456_2939_980_R->H 0.00858626 136 chr10:97098897:C:T 3456_2924_975_S->N 0.000199681 136 chr10:97098918:G:A 3456_2903_968_P->L 0.00139776 136 chr10:97098942:A:G 3456_2879_960_M->T 0.000199681 136 chr10:97101103:C:A 3456_2675_892_G->V 0.000798722 136 chr10:97101142:T:C 3456_2636_879_Q->R 0.00479233 136 chr10:97101335:G:A 3456_2596_866_R->C 0.000199681 136 chr10:97110995:C:T 3456_2419_807_D->N 0.000199681 136 chr10:97111076:C:G 3456_2338_780_A->P 0.000199681 136 chr10:97111123:G:A 3456_2291_764_A->V 0.000199681 136 chr10:97114706:T:C 3456_2213_738_H->R 0.000199681 136 chr10:97117542:G:T 3456_2040_680_F->L 0.000399361 136 chr10:97117549:G:T 3456_2033_678_S->Y 0.000199681 136 chr10:97131091:C:T 3456_1963_655_V->M 0.000199681 136 chr10:97131117:G:A 3456_1937_646_T->M 0.000798722 136 chr10:97131155:G:C 3456_1899_633_C->W 0.000199681 136 chr10:97135752:G:A 3456_1781_594_S->L 0.000199681 136 chr10:97135806:T:A 3456_1727_576_D->V 0.000199681 136 chr10:97141456:T:C 3456_1705_569_T->A 0.000599042 136 chr10:97141462:C:T 3456_1699_567_V->I 0.000199681 136 chr10:97141486:C:T 3456_1675_559_E->K 0.000199681 136 chr10:97141492:T:C 3456_1669_557_I->V 0.000199681 136 chr10:97141509:C:T 3456_1652_551_R->H 0.000199681 136 chr10:97141519:T:C 3456_1642_548_R->G 0.000199681 136 chr10:97143751:C:G 3456_1595_532_S->T 0.000199681 136 chr10:97143761:G:T 3456_1585_529_L->M 0.000199681 136 chr10:97143796:G:A 3456_1550_517_S->L 0.000199681 136 chr10:97143826:T:C 3456_1520_507_Y->C 0.0219649 136 chr10:97143847:C:T 3456_1499_500_R->H 0.000199681 136 chr10:97144031:C:T 3456_1438_480_D->N 0.000399361 136 chr10:97146820:C:A 3456_1354_452_A->S 0.192492 136 chr10:97154830:T:C 3456_1225_409_T->A 0.00159744 136 chr10:97158836:C:T 3456_1096_366_V->M 0.00239617 136 chr10:97158875:T:C 3456_1057_353_K->E 0.000199681 136 chr10:97158920:C:T 3456_1012_338_E->K 0.000199681 136 chr10:97165884:T:C 3456_976_326_S->G 0.000199681 136 chr10:97170422:T:C 3456_923_308_N->S 0.000199681 136 chr10:97174258:G:A 3456_803_268_S->L 0.000199681 136 chr10:97174306:G:A 3456_755_252_P->L 0.00678914 136 chr10:97174316:G:T 3456_745_249_P->T 0.000599042 136 chr10:97174330:G:A 3456_731_244_P->L 0.000399361 136 chr10:97174351:G:A 3456_710_237_T->M 0.000199681 136 chr10:97174352:T:C 3456_709_237_T->A 0.160144 136 chr10:97174385:G:C 3456_676_226_R->G 0.00179712 136 chr10:97174507:G:A 3456_554_185_P->L 0.000199681 136 chr10:97174537:C:A 3456_524_175_G->V 0.0628994 136 chr10:97174541:C:T 3456_520_174_E->K 0.000399361 136 chr10:97174591:G:A 3456_470_157_P->L 0.000199681 136 chr10:97181719:T:C 3456_440_147_Q->R 0.000599042 136 chr10:97181727:G:C 3456_432_144_D->E 0.000199681 136 chr10:97181761:C:A 3456_398_133_G->V 0.000199681 136 chr10:97192217:C:T 3456_289_97_E->K 0.000199681 136 chr10:97192237:G:A 3456_269_90_P->L 0.00339457 136 chr10:97192285:C:T 3456_221_74_R->Q 0.000399361 136 chr10:97192324:A:G 3456_182_61_L->P 0.019169 136 chr10:97194390:A:G 3456_161_54_V->A 0.000199681 136 na12878 Variants: 136 chr10:97192324:A:G 3456_182_61_L->P 136 chr10:97146820:C:A 3456_1354_452_A->S 136 snyder Variants: 136 chr10:97192324:A:G 3456_182_61_L->P 137 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000371249 gene_Name: SRBS1_HUMAN 137 list of pdbs: 137 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 137 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 137 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 137 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 137 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 137 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 137 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 137 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 137 Zimmer Variants: 137 chr10:97192324:A:G 2451_86_29_L->P 137 HGMD Variants: 137 chr10:97174352:T:C 2451_613_205_T->A 137 oneKG Variants: 137 chr10:97074865:T:C 2451_2402_801_K->R 0.0179712 137 chr10:97078128:C:A 2451_2332_778_D->Y 0.000399361 137 chr10:97098897:C:T 2451_2204_735_S->N 0.000199681 137 chr10:97098918:G:A 2451_2183_728_P->L 0.00139776 137 chr10:97098942:A:G 2451_2159_720_M->T 0.000199681 137 chr10:97101103:C:A 2451_1955_652_G->V 0.000798722 137 chr10:97101142:T:C 2451_1916_639_Q->R 0.00479233 137 chr10:97101335:G:A 2451_1876_626_R->C 0.000199681 137 chr10:97114706:T:C 2451_1661_554_H->R 0.000199681 137 chr10:97117542:G:T 2451_1488_496_F->L 0.000399361 137 chr10:97117549:G:T 2451_1481_494_S->Y 0.000199681 137 chr10:97141456:T:C 2451_1405_469_T->A 0.000599042 137 chr10:97141462:C:T 2451_1399_467_V->I 0.000199681 137 chr10:97141486:C:T 2451_1375_459_E->K 0.000199681 137 chr10:97141492:T:C 2451_1369_457_I->V 0.000199681 137 chr10:97141509:C:T 2451_1352_451_R->H 0.000199681 137 chr10:97141519:T:C 2451_1342_448_R->G 0.000199681 137 chr10:97143751:C:G 2451_1295_432_S->T 0.000199681 137 chr10:97143761:G:T 2451_1285_429_L->M 0.000199681 137 chr10:97143796:G:A 2451_1250_417_S->L 0.000199681 137 chr10:97143826:T:C 2451_1220_407_Y->C 0.0219649 137 chr10:97143847:C:T 2451_1199_400_R->H 0.000199681 137 chr10:97144031:C:T 2451_1138_380_D->N 0.000399361 137 chr10:97158836:C:T 2451_1000_334_V->M 0.00239617 137 chr10:97158875:T:C 2451_961_321_K->E 0.000199681 137 chr10:97158920:C:T 2451_916_306_E->K 0.000199681 137 chr10:97165884:T:C 2451_880_294_S->G 0.000199681 137 chr10:97170422:T:C 2451_827_276_N->S 0.000199681 137 chr10:97174258:G:A 2451_707_236_S->L 0.000199681 137 chr10:97174306:G:A 2451_659_220_P->L 0.00678914 137 chr10:97174316:G:T 2451_649_217_P->T 0.000599042 137 chr10:97174330:G:A 2451_635_212_P->L 0.000399361 137 chr10:97174351:G:A 2451_614_205_T->M 0.000199681 137 chr10:97174352:T:C 2451_613_205_T->A 0.160144 137 chr10:97174385:G:C 2451_580_194_R->G 0.00179712 137 chr10:97174507:G:A 2451_458_153_P->L 0.000199681 137 chr10:97174537:C:A 2451_428_143_G->V 0.0628994 137 chr10:97174541:C:T 2451_424_142_E->K 0.000399361 137 chr10:97174591:G:A 2451_374_125_P->L 0.000199681 137 chr10:97181719:T:C 2451_344_115_Q->R 0.000599042 137 chr10:97181727:G:C 2451_336_112_D->E 0.000199681 137 chr10:97181761:C:A 2451_302_101_G->V 0.000199681 137 chr10:97192217:C:T 2451_193_65_E->K 0.000199681 137 chr10:97192237:G:A 2451_173_58_P->L 0.00339457 137 chr10:97192285:C:T 2451_125_42_R->Q 0.000399361 137 chr10:97192324:A:G 2451_86_29_L->P 0.019169 137 na12878 Variants: 137 chr10:97192324:A:G 2451_86_29_L->P 137 snyder Variants: 137 chr10:97192324:A:G 2451_86_29_L->P 138 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000393949 gene_Name: SRBS1_HUMAN 138 list of pdbs: 138 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 138 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 138 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 138 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 138 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 138 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 138 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 138 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 138 Zimmer Variants: 138 chr10:97192324:A:G 3015_182_61_L->P 138 HGMD Variants: 138 chr10:97174352:T:C 3015_682_228_T->A 138 oneKG Variants: 138 chr10:97074865:T:C 3015_2966_989_K->R 0.0179712 138 chr10:97078128:C:A 3015_2896_966_D->Y 0.000399361 138 chr10:97098897:C:T 3015_2768_923_S->N 0.000199681 138 chr10:97098918:G:A 3015_2747_916_P->L 0.00139776 138 chr10:97098942:A:G 3015_2723_908_M->T 0.000199681 138 chr10:97101103:C:A 3015_2519_840_G->V 0.000798722 138 chr10:97101142:T:C 3015_2480_827_Q->R 0.00479233 138 chr10:97101335:G:A 3015_2440_814_R->C 0.000199681 138 chr10:97110995:C:T 3015_2263_755_D->N 0.000199681 138 chr10:97111076:C:G 3015_2182_728_A->P 0.000199681 138 chr10:97111123:G:A 3015_2135_712_A->V 0.000199681 138 chr10:97114706:T:C 3015_2057_686_H->R 0.000199681 138 chr10:97117542:G:T 3015_1884_628_F->L 0.000399361 138 chr10:97117549:G:T 3015_1877_626_S->Y 0.000199681 138 chr10:97131091:C:T 3015_1807_603_V->M 0.000199681 138 chr10:97131117:G:A 3015_1781_594_T->M 0.000798722 138 chr10:97131155:G:C 3015_1743_581_C->W 0.000199681 138 chr10:97135752:G:A 3015_1625_542_S->L 0.000199681 138 chr10:97135806:T:A 3015_1571_524_D->V 0.000199681 138 chr10:97141456:T:C 3015_1549_517_T->A 0.000599042 138 chr10:97141462:C:T 3015_1543_515_V->I 0.000199681 138 chr10:97141486:C:T 3015_1519_507_E->K 0.000199681 138 chr10:97141492:T:C 3015_1513_505_I->V 0.000199681 138 chr10:97141509:C:T 3015_1496_499_R->H 0.000199681 138 chr10:97141519:T:C 3015_1486_496_R->G 0.000199681 138 chr10:97143751:C:G 3015_1439_480_S->T 0.000199681 138 chr10:97143761:G:T 3015_1429_477_L->M 0.000199681 138 chr10:97143796:G:A 3015_1394_465_S->L 0.000199681 138 chr10:97143826:T:C 3015_1364_455_Y->C 0.0219649 138 chr10:97143847:C:T 3015_1343_448_R->H 0.000199681 138 chr10:97144031:C:T 3015_1282_428_D->N 0.000399361 138 chr10:97154830:T:C 3015_1198_400_T->A 0.00159744 138 chr10:97158836:C:T 3015_1069_357_V->M 0.00239617 138 chr10:97158875:T:C 3015_1030_344_K->E 0.000199681 138 chr10:97158920:C:T 3015_985_329_E->K 0.000199681 138 chr10:97165884:T:C 3015_949_317_S->G 0.000199681 138 chr10:97170422:T:C 3015_896_299_N->S 0.000199681 138 chr10:97174258:G:A 3015_776_259_S->L 0.000199681 138 chr10:97174306:G:A 3015_728_243_P->L 0.00678914 138 chr10:97174316:G:T 3015_718_240_P->T 0.000599042 138 chr10:97174330:G:A 3015_704_235_P->L 0.000399361 138 chr10:97174351:G:A 3015_683_228_T->M 0.000199681 138 chr10:97174352:T:C 3015_682_228_T->A 0.160144 138 chr10:97174385:G:C 3015_649_217_R->G 0.00179712 138 chr10:97174507:G:A 3015_527_176_P->L 0.000199681 138 chr10:97174537:C:A 3015_497_166_G->V 0.0628994 138 chr10:97174541:C:T 3015_493_165_E->K 0.000399361 138 chr10:97174591:G:A 3015_443_148_P->L 0.000199681 138 chr10:97181719:T:C 3015_413_138_Q->R 0.000599042 138 chr10:97181727:G:C 3015_405_135_D->E 0.000199681 138 chr10:97181761:C:A 3015_371_124_G->V 0.000199681 138 chr10:97192217:C:T 3015_289_97_E->K 0.000199681 138 chr10:97192237:G:A 3015_269_90_P->L 0.00339457 138 chr10:97192285:C:T 3015_221_74_R->Q 0.000399361 138 chr10:97192324:A:G 3015_182_61_L->P 0.019169 138 chr10:97194390:A:G 3015_161_54_V->A 0.000199681 138 na12878 Variants: 138 chr10:97192324:A:G 3015_182_61_L->P 138 snyder Variants: 138 chr10:97192324:A:G 3015_182_61_L->P 139 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000353505 gene_Name: SRBS1_HUMAN 139 list of pdbs: 139 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 139 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 139 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 139 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 139 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 139 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 139 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 139 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 139 Zimmer Variants: 139 chr10:97192324:A:G 2718_182_61_L->P 139 HGMD Variants: 139 chr10:97174352:T:C 2718_502_168_T->A 139 oneKG Variants: 139 chr10:97074865:T:C 2718_2669_890_K->R 0.0179712 139 chr10:97078128:C:A 2718_2599_867_D->Y 0.000399361 139 chr10:97098897:C:T 2718_2411_804_S->N 0.000199681 139 chr10:97098918:G:A 2718_2390_797_P->L 0.00139776 139 chr10:97098942:A:G 2718_2366_789_M->T 0.000199681 139 chr10:97101103:C:A 2718_2162_721_G->V 0.000798722 139 chr10:97101142:T:C 2718_2123_708_Q->R 0.00479233 139 chr10:97101335:G:A 2718_2083_695_R->C 0.000199681 139 chr10:97110995:C:T 2718_1906_636_D->N 0.000199681 139 chr10:97111076:C:G 2718_1825_609_A->P 0.000199681 139 chr10:97111123:G:A 2718_1778_593_A->V 0.000199681 139 chr10:97114706:T:C 2718_1700_567_H->R 0.000199681 139 chr10:97117542:G:T 2718_1527_509_F->L 0.000399361 139 chr10:97117549:G:T 2718_1520_507_S->Y 0.000199681 139 chr10:97135752:G:A 2718_1370_457_S->L 0.000199681 139 chr10:97135806:T:A 2718_1316_439_D->V 0.000199681 139 chr10:97141456:T:C 2718_1294_432_T->A 0.000599042 139 chr10:97141462:C:T 2718_1288_430_V->I 0.000199681 139 chr10:97141486:C:T 2718_1264_422_E->K 0.000199681 139 chr10:97141492:T:C 2718_1258_420_I->V 0.000199681 139 chr10:97141509:C:T 2718_1241_414_R->H 0.000199681 139 chr10:97141519:T:C 2718_1231_411_R->G 0.000199681 139 chr10:97143751:C:G 2718_1184_395_S->T 0.000199681 139 chr10:97143761:G:T 2718_1174_392_L->M 0.000199681 139 chr10:97143796:G:A 2718_1139_380_S->L 0.000199681 139 chr10:97143826:T:C 2718_1109_370_Y->C 0.0219649 139 chr10:97143847:C:T 2718_1088_363_R->H 0.000199681 139 chr10:97144031:C:T 2718_1027_343_D->N 0.000399361 139 chr10:97158836:C:T 2718_889_297_V->M 0.00239617 139 chr10:97158875:T:C 2718_850_284_K->E 0.000199681 139 chr10:97158920:C:T 2718_805_269_E->K 0.000199681 139 chr10:97165884:T:C 2718_769_257_S->G 0.000199681 139 chr10:97170422:T:C 2718_716_239_N->S 0.000199681 139 chr10:97174258:G:A 2718_596_199_S->L 0.000199681 139 chr10:97174306:G:A 2718_548_183_P->L 0.00678914 139 chr10:97174316:G:T 2718_538_180_P->T 0.000599042 139 chr10:97174330:G:A 2718_524_175_P->L 0.000399361 139 chr10:97174351:G:A 2718_503_168_T->M 0.000199681 139 chr10:97174352:T:C 2718_502_168_T->A 0.160144 139 chr10:97174385:G:C 2718_469_157_R->G 0.00179712 139 chr10:97181719:T:C 2718_440_147_Q->R 0.000599042 139 chr10:97181727:G:C 2718_432_144_D->E 0.000199681 139 chr10:97181761:C:A 2718_398_133_G->V 0.000199681 139 chr10:97192217:C:T 2718_289_97_E->K 0.000199681 139 chr10:97192237:G:A 2718_269_90_P->L 0.00339457 139 chr10:97192285:C:T 2718_221_74_R->Q 0.000399361 139 chr10:97192324:A:G 2718_182_61_L->P 0.019169 139 chr10:97194390:A:G 2718_161_54_V->A 0.000199681 139 na12878 Variants: 139 chr10:97192324:A:G 2718_182_61_L->P 139 snyder Variants: 139 chr10:97192324:A:G 2718_182_61_L->P 140 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000371245 gene_Name: SRBS1_HUMAN 140 list of pdbs: 140 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 140 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 140 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 140 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 140 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 140 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 140 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 140 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 140 Zimmer Variants: 140 chr10:97192324:A:G 2718_182_61_L->P 140 HGMD Variants: 140 chr10:97174352:T:C 2718_502_168_T->A 140 oneKG Variants: 140 chr10:97074865:T:C 2718_2669_890_K->R 0.0179712 140 chr10:97078128:C:A 2718_2599_867_D->Y 0.000399361 140 chr10:97098897:C:T 2718_2411_804_S->N 0.000199681 140 chr10:97098918:G:A 2718_2390_797_P->L 0.00139776 140 chr10:97098942:A:G 2718_2366_789_M->T 0.000199681 140 chr10:97101103:C:A 2718_2162_721_G->V 0.000798722 140 chr10:97101142:T:C 2718_2123_708_Q->R 0.00479233 140 chr10:97101335:G:A 2718_2083_695_R->C 0.000199681 140 chr10:97110995:C:T 2718_1906_636_D->N 0.000199681 140 chr10:97111076:C:G 2718_1825_609_A->P 0.000199681 140 chr10:97111123:G:A 2718_1778_593_A->V 0.000199681 140 chr10:97114706:T:C 2718_1700_567_H->R 0.000199681 140 chr10:97117542:G:T 2718_1527_509_F->L 0.000399361 140 chr10:97117549:G:T 2718_1520_507_S->Y 0.000199681 140 chr10:97135752:G:A 2718_1370_457_S->L 0.000199681 140 chr10:97135806:T:A 2718_1316_439_D->V 0.000199681 140 chr10:97141456:T:C 2718_1294_432_T->A 0.000599042 140 chr10:97141462:C:T 2718_1288_430_V->I 0.000199681 140 chr10:97141486:C:T 2718_1264_422_E->K 0.000199681 140 chr10:97141492:T:C 2718_1258_420_I->V 0.000199681 140 chr10:97141509:C:T 2718_1241_414_R->H 0.000199681 140 chr10:97141519:T:C 2718_1231_411_R->G 0.000199681 140 chr10:97143751:C:G 2718_1184_395_S->T 0.000199681 140 chr10:97143761:G:T 2718_1174_392_L->M 0.000199681 140 chr10:97143796:G:A 2718_1139_380_S->L 0.000199681 140 chr10:97143826:T:C 2718_1109_370_Y->C 0.0219649 140 chr10:97143847:C:T 2718_1088_363_R->H 0.000199681 140 chr10:97144031:C:T 2718_1027_343_D->N 0.000399361 140 chr10:97158836:C:T 2718_889_297_V->M 0.00239617 140 chr10:97158875:T:C 2718_850_284_K->E 0.000199681 140 chr10:97158920:C:T 2718_805_269_E->K 0.000199681 140 chr10:97165884:T:C 2718_769_257_S->G 0.000199681 140 chr10:97170422:T:C 2718_716_239_N->S 0.000199681 140 chr10:97174258:G:A 2718_596_199_S->L 0.000199681 140 chr10:97174306:G:A 2718_548_183_P->L 0.00678914 140 chr10:97174316:G:T 2718_538_180_P->T 0.000599042 140 chr10:97174330:G:A 2718_524_175_P->L 0.000399361 140 chr10:97174351:G:A 2718_503_168_T->M 0.000199681 140 chr10:97174352:T:C 2718_502_168_T->A 0.160144 140 chr10:97174385:G:C 2718_469_157_R->G 0.00179712 140 chr10:97181719:T:C 2718_440_147_Q->R 0.000599042 140 chr10:97181727:G:C 2718_432_144_D->E 0.000199681 140 chr10:97181761:C:A 2718_398_133_G->V 0.000199681 140 chr10:97192217:C:T 2718_289_97_E->K 0.000199681 140 chr10:97192237:G:A 2718_269_90_P->L 0.00339457 140 chr10:97192285:C:T 2718_221_74_R->Q 0.000399361 140 chr10:97192324:A:G 2718_182_61_L->P 0.019169 140 chr10:97194390:A:G 2718_161_54_V->A 0.000199681 140 na12878 Variants: 140 chr10:97192324:A:G 2718_182_61_L->P 140 snyder Variants: 140 chr10:97192324:A:G 2718_182_61_L->P 141 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095637_ENST00000354106 gene_Name: SRBS1_HUMAN 141 list of pdbs: 141 2O9S pdb_description: 30-Oct-07 X-ray 0.830 The second sh3 domain from ponsin 141 2O31 pdb_description: 23-Oct-07 X-ray 1.500 Crystal structure of the second sh3 domain from ponsin 141 2O2W pdb_description: 23-Oct-07 - - Extending powder diffraction to proteins: structure solution of the second sh3 domain from ponsin 141 2LJ1 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl with ataxin-7 prr 141 2LJ0 pdb_description: 05-Sep-12 NMR 15 The third sh3 domain of r85fl 141 2ECZ pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of sorbin and sh3 domain-containing protein 1 141 2DL3 pdb_description: 17-Oct-06 NMR 20 Solution structure of the first sh3 domain of human sorbin and sh3 domain-containing protein 1 141 2O9V pdb_description: 30-Oct-07 X-ray 1.630 The second sh3 domain from ponsin in complex with the paxillin proline rich region 141 Zimmer Variants: 141 chr10:97192324:A:G 3015_182_61_L->P 141 HGMD Variants: 141 chr10:97174352:T:C 3015_682_228_T->A 141 oneKG Variants: 141 chr10:97074865:T:C 3015_2966_989_K->R 0.0179712 141 chr10:97078128:C:A 3015_2896_966_D->Y 0.000399361 141 chr10:97098897:C:T 3015_2768_923_S->N 0.000199681 141 chr10:97098918:G:A 3015_2747_916_P->L 0.00139776 141 chr10:97098942:A:G 3015_2723_908_M->T 0.000199681 141 chr10:97101103:C:A 3015_2519_840_G->V 0.000798722 141 chr10:97101142:T:C 3015_2480_827_Q->R 0.00479233 141 chr10:97101335:G:A 3015_2440_814_R->C 0.000199681 141 chr10:97110995:C:T 3015_2263_755_D->N 0.000199681 141 chr10:97111076:C:G 3015_2182_728_A->P 0.000199681 141 chr10:97111123:G:A 3015_2135_712_A->V 0.000199681 141 chr10:97114706:T:C 3015_2057_686_H->R 0.000199681 141 chr10:97117542:G:T 3015_1884_628_F->L 0.000399361 141 chr10:97117549:G:T 3015_1877_626_S->Y 0.000199681 141 chr10:97131091:C:T 3015_1807_603_V->M 0.000199681 141 chr10:97131117:G:A 3015_1781_594_T->M 0.000798722 141 chr10:97131155:G:C 3015_1743_581_C->W 0.000199681 141 chr10:97135752:G:A 3015_1625_542_S->L 0.000199681 141 chr10:97135806:T:A 3015_1571_524_D->V 0.000199681 141 chr10:97141456:T:C 3015_1549_517_T->A 0.000599042 141 chr10:97141462:C:T 3015_1543_515_V->I 0.000199681 141 chr10:97141486:C:T 3015_1519_507_E->K 0.000199681 141 chr10:97141492:T:C 3015_1513_505_I->V 0.000199681 141 chr10:97141509:C:T 3015_1496_499_R->H 0.000199681 141 chr10:97141519:T:C 3015_1486_496_R->G 0.000199681 141 chr10:97143751:C:G 3015_1439_480_S->T 0.000199681 141 chr10:97143761:G:T 3015_1429_477_L->M 0.000199681 141 chr10:97143796:G:A 3015_1394_465_S->L 0.000199681 141 chr10:97143826:T:C 3015_1364_455_Y->C 0.0219649 141 chr10:97143847:C:T 3015_1343_448_R->H 0.000199681 141 chr10:97144031:C:T 3015_1282_428_D->N 0.000399361 141 chr10:97154830:T:C 3015_1198_400_T->A 0.00159744 141 chr10:97158836:C:T 3015_1069_357_V->M 0.00239617 141 chr10:97158875:T:C 3015_1030_344_K->E 0.000199681 141 chr10:97158920:C:T 3015_985_329_E->K 0.000199681 141 chr10:97165884:T:C 3015_949_317_S->G 0.000199681 141 chr10:97170422:T:C 3015_896_299_N->S 0.000199681 141 chr10:97174258:G:A 3015_776_259_S->L 0.000199681 141 chr10:97174306:G:A 3015_728_243_P->L 0.00678914 141 chr10:97174316:G:T 3015_718_240_P->T 0.000599042 141 chr10:97174330:G:A 3015_704_235_P->L 0.000399361 141 chr10:97174351:G:A 3015_683_228_T->M 0.000199681 141 chr10:97174352:T:C 3015_682_228_T->A 0.160144 141 chr10:97174385:G:C 3015_649_217_R->G 0.00179712 141 chr10:97174507:G:A 3015_527_176_P->L 0.000199681 141 chr10:97174537:C:A 3015_497_166_G->V 0.0628994 141 chr10:97174541:C:T 3015_493_165_E->K 0.000399361 141 chr10:97174591:G:A 3015_443_148_P->L 0.000199681 141 chr10:97181719:T:C 3015_413_138_Q->R 0.000599042 141 chr10:97181727:G:C 3015_405_135_D->E 0.000199681 141 chr10:97181761:C:A 3015_371_124_G->V 0.000199681 141 chr10:97192217:C:T 3015_289_97_E->K 0.000199681 141 chr10:97192237:G:A 3015_269_90_P->L 0.00339457 141 chr10:97192285:C:T 3015_221_74_R->Q 0.000399361 141 chr10:97192324:A:G 3015_182_61_L->P 0.019169 141 chr10:97194390:A:G 3015_161_54_V->A 0.000199681 141 na12878 Variants: 141 chr10:97192324:A:G 3015_182_61_L->P 141 snyder Variants: 141 chr10:97192324:A:G 3015_182_61_L->P 142 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137674_ENST00000260228 gene_Name: MMP20_HUMAN 142 list of pdbs: 142 2JSD pdb_description: 20-Nov-07 NMR 20 Solution structure of mmp20 complexed with nngh 142 Zimmer Variants: 142 chr11:102477395:A:G 1452_824_275_V->A;GNEG=Yes;GENE=MMP20;CDSS=3 142 chr11:102495998:T:G 1452_53_18_K->T;GNEG=Yes;GENE=MMP20;CDSS=3 142 HGMD Variants: 142 chr11:102495949:C:T 1452_102_34_W->* 142 chr11:102477309:C:T 1452_910_304_A->T 142 chr11:102479801:A:T 1452_678_226_H->Q 142 chr11:102480674:T:C 1452_611_204_H->R 142 chr11:102482620:G:A 1452_389_130_T->I 142 oneKG Variants: 142 chr11:102480652:C:T 1452_633_211_W->* 0.000199681 142 chr11:102448089:C:T 1452_1420_474_V->M 0.000399361 142 chr11:102449791:C:T 1452_1330_444_D->N 0.000199681 142 chr11:102449799:C:T 1452_1322_441_G->D 0.000199681 142 chr11:102449808:C:G 1452_1313_438_G->A 0.00279553 142 chr11:102464198:G:A 1452_1219_407_L->F 0.000399361 142 chr11:102464246:C:T 1452_1171_391_V->M 0.000199681 142 chr11:102464279:G:A 1452_1138_380_R->W 0.000199681 142 chr11:102464281:G:A 1452_1136_379_P->L 0.00119808 142 chr11:102465447:C:T 1452_995_332_R->Q 0.000199681 142 chr11:102465450:A:G 1452_992_331_I->T 0.000199681 142 chr11:102465460:G:A 1452_982_328_R->W 0.000599042 142 chr11:102477309:C:T 1452_910_304_A->T 0.00139776 142 chr11:102477366:C:T 1452_853_285_A->T 0.000199681 142 chr11:102477377:G:T 1452_842_281_T->N 0.419928 142 chr11:102477395:A:G 1452_824_275_V->A 0.419928 142 chr11:102477402:G:A 1452_817_273_R->W 0.000199681 142 chr11:102479793:C:T 1452_686_229_G->D 0.000199681 142 chr11:102479794:C:T 1452_685_229_G->S 0.000199681 142 chr11:102479812:C:T 1452_667_223_V->I 0.000199681 142 chr11:102482504:T:G 1452_505_169_I->L 0.0273562 142 chr11:102482515:G:T 1452_494_165_A->E 0.000199681 142 chr11:102482566:G:A 1452_443_148_A->V 0.000199681 142 chr11:102482594:C:T 1452_415_139_D->N 0.00758786 142 chr11:102482620:G:A 1452_389_130_T->I 0.000399361 142 chr11:102482626:T:G 1452_383_128_K->T 0.000599042 142 chr11:102487591:C:T 1452_326_109_R->H 0.000399361 142 chr11:102487629:C:G 1452_288_96_K->N 0.000199681 142 chr11:102487643:T:C 1452_274_92_M->V 0.00239617 142 chr11:102487664:C:T 1452_253_85_G->R 0.000399361 142 chr11:102487678:C:T 1452_239_80_G->D 0.000798722 142 chr11:102487745:C:T 1452_172_58_G->S 0.000199681 142 chr11:102487753:T:C 1452_164_55_H->R 0.000199681 142 chr11:102495930:C:T 1452_121_41_A->T 0.000199681 142 chr11:102495948:T:C 1452_103_35_R->G 0.000199681 142 chr11:102495959:G:A 1452_92_31_P->L 0.00279553 142 chr11:102495962:G:T 1452_89_30_S->Y 0.000399361 142 chr11:102495998:T:G 1452_53_18_K->T 0.323482 142 chr11:102496017:A:G 1452_34_12_F->L 0.000199681 142 na12878 Variants: 142 chr11:102477395:A:G 1452_824_275_V->A 142 chr11:102495998:T:G 1452_53_18_K->T 142 snyder Variants: 142 chr11:102477395:A:G 1452_824_275_V->A 142 chr11:102495998:T:G 1452_53_18_K->T 143 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110324_ENST00000227752 gene_Name: I10R1_HUMAN 143 list of pdbs: 143 1Y6N pdb_description: 03-May-05 X-ray 2.700 Crystal structure of epstein-barr virus il-10 mutant (a87i) complexed with the soluble il-10r1 chain 143 1Y6M pdb_description: 03-May-05 X-ray 2.800 Crystal structure of epstein-barr virus il-10 complexed with the soluble il-10r1 chain 143 1Y6K pdb_description: 20-Dec-05 X-ray 2.520 Crystal structure of human il-10 complexed with the soluble il-10r1 chain 143 1LQS pdb_description: 17-Jul-02 X-ray 2.700 Crystal structure of human cytomegalovirus il-10 bound to so human il-10r1 143 1J7V pdb_description: 19-Sep-01 X-ray 2.900 Human il-10 / il-10r1 complex 143 Zimmer Variants: 143 chr11:117864063:A:G 1737_475_159_S->G 143 chr11:117864846:A:G 1737_670_224_I->V 143 chr11:117869670:A:G 1737_1051_351_R->G 143 HGMD Variants: 143 chr11:117860160:T:G 1737_192_64_Y->* 143 chr11:117869910:G:T 1737_1291_431_E->* 143 chr11:117859162:T:G 1737_133_45_W->G 143 chr11:117859199:A:G 1737_170_57_Y->C 143 chr11:117860219:C:T 1737_251_84_T->I 143 chr11:117860240:A:G 1737_272_91_Y->C 143 chr11:117860269:C:T 1737_301_101_R->W 143 chr11:117860317:C:T 1737_349_117_R->C 143 chr11:117860318:G:A 1737_350_117_R->H 143 chr11:117863962:T:G 1737_374_125_L->R 143 chr11:117864009:G:A 1737_421_141_G->R 143 chr11:117864063:A:G 1737_475_159_S->G 143 chr11:117864094:T:C 1737_506_169_I->T 143 chr11:117864843:T:C 1737_667_223_C->R 143 chr11:117866399:C:T 1737_784_262_R->C 143 chr11:117869670:A:G 1737_1051_351_R->G 143 oneKG Variants: 143 chr11:117857190:C:G 1737_8_3_P->R 0.000199681 143 chr11:117859104:G:T 1737_75_25_E->D 0.00259585 143 chr11:117859114:C:G 1737_85_29_P->A 0.000199681 143 chr11:117859121:C:G 1737_92_31_S->C 0.000199681 143 chr11:117859129:T:C 1737_100_34_F->L 0.000199681 143 chr11:117859143:T:A 1737_114_38_F->L 0.000399361 143 chr11:117859165:A:G 1737_136_46_T->A 0.00299521 143 chr11:117859201:G:A 1737_172_58_E->K 0.000399361 143 chr11:117859210:C:G 1737_181_61_L->V 0.0119808 143 chr11:117860246:G:A 1737_278_93_S->N 0.000199681 143 chr11:117860257:C:T 1737_289_97_R->W 0.000399361 143 chr11:117860281:G:A 1737_313_105_G->S 0.000399361 143 chr11:117860305:G:A 1737_337_113_V->I 0.00179712 143 chr11:117860318:G:A 1737_350_117_R->H 0.000199681 143 chr11:117863995:A:G 1737_407_136_N->S 0.000399361 143 chr11:117864009:G:A 1737_421_141_G->R 0.000199681 143 chr11:117864031:C:G 1737_443_148_P->R 0.000199681 143 chr11:117864045:G:A 1737_457_153_A->T 0.000199681 143 chr11:117864063:A:G 1737_475_159_S->G 0.0816693 143 chr11:117864124:C:T 1737_536_179_T->M 0.000199681 143 chr11:117864783:G:A 1737_607_203_V->I 0.000399361 143 chr11:117864846:A:G 1737_670_224_I->V 0.114417 143 chr11:117866312:G:A 1737_697_233_V->M 0.0071885 143 chr11:117866313:T:G 1737_698_233_V->G 0.000399361 143 chr11:117866315:A:G 1737_700_234_T->A 0.000199681 143 chr11:117866321:G:A 1737_706_236_V->I 0.000399361 143 chr11:117866331:T:C 1737_716_239_F->S 0.00199681 143 chr11:117866397:G:A 1737_782_261_R->Q 0.000199681 143 chr11:117869470:G:A 1737_851_284_R->H 0.000399361 143 chr11:117869502:C:T 1737_883_295_P->S 0.000199681 143 chr11:117869503:C:T 1737_884_295_P->L 0.000399361 143 chr11:117869520:T:C 1737_901_301_F->L 0.000199681 143 chr11:117869572:A:T 1737_953_318_D->V 0.000199681 143 chr11:117869654:C:G 1737_1035_345_D->E 0.000199681 143 chr11:117869656:G:C 1737_1037_346_R->T 0.000199681 143 chr11:117869670:A:G 1737_1051_351_R->G 0.188898 143 chr11:117869691:G:A 1737_1072_358_D->N 0.000199681 143 chr11:117869722:C:T 1737_1103_368_T->I 0.000199681 143 chr11:117869853:C:T 1737_1234_412_R->W 0.000199681 143 chr11:117869854:G:A 1737_1235_412_R->Q 0.000199681 143 chr11:117869866:C:T 1737_1247_416_T->I 0.000199681 143 chr11:117869878:C:T 1737_1259_420_S->L 0.0167732 143 chr11:117869932:C:G 1737_1313_438_P->R 0.000199681 143 chr11:117869979:G:A 1737_1360_454_E->K 0.00159744 143 chr11:117870088:C:T 1737_1469_490_P->L 0.000199681 143 chr11:117870153:C:T 1737_1534_512_P->S 0.000199681 143 chr11:117870157:C:T 1737_1538_513_T->M 0.000399361 143 chr11:117870250:A:T 1737_1631_544_D->V 0.000399361 143 chr11:117870312:C:A 1737_1693_565_L->M 0.000399361 143 na12878 Variants: 143 chr11:117864063:A:G 1737_475_159_S->G 143 chr11:117864846:A:G 1737_670_224_I->V 143 chr11:117869670:A:G 1737_1051_351_R->G 143 snyder Variants: 143 chr11:117869670:A:G 1737_1051_351_R->G 144 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137642_ENST00000260197 gene_Name: SORL_HUMAN 144 list of pdbs: 144 2DM4 pdb_description: 20-Oct-06 NMR 20 Solution structure of the second fn3 domain of human sorla/lr11 144 3G2T pdb_description: 15-Dec-09 X-ray 2.000 Vhs domain of human gga1 complexed with sorla c-terminal phosphopeptide 144 3G2S pdb_description: 15-Dec-09 X-ray 1.700 Vhs domain of human gga1 complexed with sorla c-terminal pep 144 Zimmer Variants: 144 chr11:121437819:C:G 6645_3220_1074_Q->E 144 chr11:121491782:G:A 6645_5899_1967_V->I 144 HGMD Variants: 144 chr11:121466396:C:A 6645_4434_1478_C->* 144 chr11:121485623:G:A 6645_5463_1821_W->* 144 chr11:121348846:A:G 6645_422_141_Y->C 144 chr11:121367627:G:A 6645_808_270_E->K 144 chr11:121393633:G:C 6645_1531_511_G->R 144 chr11:121393684:G:A 6645_1582_528_A->T 144 chr11:121428111:A:G 6645_2660_887_E->G 144 chr11:121429407:A:G 6645_2771_924_N->S 144 chr11:121429476:C:T 6645_2840_947_T->M 144 chr11:121440937:T:C 6645_3295_1099_F->L 144 chr11:121444958:A:G 6645_3346_1116_I->V 144 chr11:121454206:G:A 6645_3620_1207_R->Q 144 chr11:121460094:A:G 6645_4073_1358_N->S 144 chr11:121461799:A:T 6645_4303_1435_T->S 144 chr11:121474914:C:T 6645_4532_1511_T->I 144 chr11:121477647:G:A 6645_5042_1681_G->D 144 chr11:121485599:T:A 6645_5439_1813_H->Q 144 chr11:121495816:A:T 6645_6194_2065_D->V 144 chr11:121498300:C:T 6645_6401_2134_T->M 144 oneKG Variants: 144 chr11:121323053:A:G 6645_13_5_S->G 0.000199681 144 chr11:121323124:C:G 6645_84_28_C->W 0.000199681 144 chr11:121323173:G:T 6645_133_45_D->Y 0.000199681 144 chr11:121323176:C:G 6645_136_46_R->G 0.00119808 144 chr11:121323241:G:C 6645_201_67_R->S 0.000199681 144 chr11:121323245:G:A 6645_205_69_A->T 0.000199681 144 chr11:121340737:A:C 6645_307_103_N->H 0.000199681 144 chr11:121348833:G:A 6645_409_137_V->M 0.000399361 144 chr11:121348842:G:A 6645_418_140_D->N 0.000199681 144 chr11:121348939:C:T 6645_515_172_A->V 0.000199681 144 chr11:121358760:A:T 6645_548_183_Y->F 0.000199681 144 chr11:121358826:G:A 6645_614_205_R->Q 0.000199681 144 chr11:121367582:A:G 6645_763_255_I->V 0.000199681 144 chr11:121367592:A:C 6645_773_258_Y->S 0.000199681 144 chr11:121367610:T:C 6645_791_264_I->T 0.000199681 144 chr11:121367627:G:A 6645_808_270_E->K 0.00778754 144 chr11:121367631:C:T 6645_812_271_P->L 0.000199681 144 chr11:121384931:A:C 6645_1112_371_N->T 0.000399361 144 chr11:121384948:G:A 6645_1129_377_A->T 0.000199681 144 chr11:121384984:G:T 6645_1165_389_V->L 0.000199681 144 chr11:121385011:G:A 6645_1192_398_G->S 0.000199681 144 chr11:121391530:C:T 6645_1376_459_T->M 0.000399361 144 chr11:121393649:G:A 6645_1547_516_S->N 0.000399361 144 chr11:121393684:G:A 6645_1582_528_A->T 0.103235 144 chr11:121403252:A:G 6645_1676_559_N->S 0.000199681 144 chr11:121403254:G:A 6645_1678_560_E->K 0.000199681 144 chr11:121414280:C:T 6645_1709_570_T->I 0.000199681 144 chr11:121414421:C:T 6645_1850_617_A->V 0.000199681 144 chr11:121415958:C:T 6645_1871_624_P->L 0.000199681 144 chr11:121415993:T:A 6645_1906_636_S->T 0.000199681 144 chr11:121416003:G:A,T 6645_1916_639_R->Q,2 0.000399361 144 chr11:121416003:G:A,T 6645_1916_639_R->L 0.000399361 144 chr11:121416048:G:A 6645_1961_654_R->Q 0.000199681 144 chr11:121416063:C:T 6645_1976_659_T->I 0.000199681 144 chr11:121416093:C:T 6645_2006_669_P->L 0.000599042 144 chr11:121416096:T:C 6645_2009_670_V->A 0.000199681 144 chr11:121416101:G:A 6645_2014_672_V->M 0.000199681 144 chr11:121421361:G:A 6645_2248_750_V->I 0.000199681 144 chr11:121424675:A:G 6645_2296_766_R->G 0.000199681 144 chr11:121424690:C:T 6645_2311_771_R->C 0.000199681 144 chr11:121424738:C:A 6645_2359_787_L->I 0.000199681 144 chr11:121424745:C:T 6645_2366_789_A->V 0.000199681 144 chr11:121425939:A:G 6645_2483_828_N->S 0.000199681 144 chr11:121428059:G:A 6645_2608_870_V->I 0.000399361 144 chr11:121428092:C:G 6645_2641_881_L->V 0.000199681 144 chr11:121429346:C:T 6645_2710_904_R->W 0.000199681 144 chr11:121429347:G:A 6645_2711_904_R->Q 0.000798722 144 chr11:121429476:C:T 6645_2840_947_T->M 0.00339457 144 chr11:121437655:A:G 6645_3056_1019_N->S 0.000399361 144 chr11:121437721:G:T 6645_3122_1041_R->M 0.000199681 144 chr11:121437819:C:G 6645_3220_1074_Q->E 0.015176 144 chr11:121440869:A:G 6645_3227_1076_N->S 0.000199681 144 chr11:121440937:T:C 6645_3295_1099_F->L 0.00239617 144 chr11:121444958:A:G 6645_3346_1116_I->V 0.00239617 144 chr11:121444997:G:A 6645_3385_1129_G->R 0.000199681 144 chr11:121448005:G:T 6645_3476_1159_R->L 0.000199681 144 chr11:121454185:A:G 6645_3599_1200_E->G 0.000199681 144 chr11:121454186:G:C 6645_3600_1200_E->D 0.000199681 144 chr11:121454187:G:T 6645_3601_1201_A->S 0.000199681 144 chr11:121454206:G:A 6645_3620_1207_R->Q 0.00479233 144 chr11:121456951:C:T 6645_3727_1243_R->C 0.000199681 144 chr11:121456964:G:C 6645_3740_1247_G->A 0.000399361 144 chr11:121457029:C:G 6645_3805_1269_Q->E 0.000199681 144 chr11:121458842:G:A 6645_3928_1310_A->T 0.000199681 144 chr11:121458843:C:T 6645_3929_1310_A->V 0.000399361 144 chr11:121459989:A:C 6645_3968_1323_K->T 0.000199681 144 chr11:121460003:T:G 6645_3982_1328_F->V 0.000199681 144 chr11:121460793:C:T 6645_4123_1375_R->W 0.000199681 144 chr11:121460794:G:A 6645_4124_1375_R->Q 0.000199681 144 chr11:121460806:G:A 6645_4136_1379_G->D 0.000199681 144 chr11:121460853:G:A 6645_4183_1395_G->R 0.000199681 144 chr11:121461731:C:T 6645_4235_1412_S->L 0.000399361 144 chr11:121461799:A:T 6645_4303_1435_T->S 0.000399361 144 chr11:121466337:G:A 6645_4375_1459_V->I 0.000199681 144 chr11:121466404:C:T 6645_4442_1481_P->L 0.000199681 144 chr11:121466409:A:G 6645_4447_1483_T->A 0.00179712 144 chr11:121466410:C:T 6645_4448_1483_T->M 0.000599042 144 chr11:121474952:G:A 6645_4570_1524_G->R 0.000798722 144 chr11:121475859:G:C 6645_4689_1563_W->C 0.000199681 144 chr11:121476233:A:T 6645_4901_1634_K->M 0.000199681 144 chr11:121476242:A:C 6645_4910_1637_N->T 0.000199681 144 chr11:121477628:C:T 6645_5023_1675_P->S 0.000199681 144 chr11:121477656:G:A 6645_5051_1684_R->H 0.000199681 144 chr11:121478829:G:C 6645_5183_1728_S->T 0.000199681 144 chr11:121478832:G:A 6645_5186_1729_R->H 0.000199681 144 chr11:121483518:G:A 6645_5396_1799_R->Q 0.000199681 144 chr11:121485586:A:G 6645_5426_1809_N->S 0.000599042 144 chr11:121485599:T:A 6645_5439_1813_H->Q 0.00159744 144 chr11:121485685:G:A 6645_5525_1842_R->H 0.000798722 144 chr11:121485757:G:A 6645_5597_1866_R->Q 0.000199681 144 chr11:121489532:C:T 6645_5654_1885_P->L 0.000199681 144 chr11:121490466:G:A 6645_5729_1910_R->H 0.000199681 144 chr11:121490502:A:C 6645_5765_1922_Y->S 0.000998403 144 chr11:121490504:G:A 6645_5767_1923_V->I 0.000199681 144 chr11:121490543:C:T 6645_5806_1936_R->C 0.000199681 144 chr11:121490574:C:T 6645_5837_1946_T->I 0.000199681 144 chr11:121490589:A:G 6645_5852_1951_K->R 0.000199681 144 chr11:121490615:G:C 6645_5878_1960_D->H 0.000199681 144 chr11:121491782:G:A 6645_5899_1967_V->I 0.020567 144 chr11:121491819:G:A 6645_5936_1979_S->N 0.00119808 144 chr11:121491860:C:T 6645_5977_1993_L->F 0.000199681 144 chr11:121491929:A:G 6645_6046_2016_S->G 0.000399361 144 chr11:121492871:T:C 6645_6065_2022_V->A 0.000199681 144 chr11:121492912:A:G 6645_6106_2036_N->D 0.000399361 144 chr11:121492918:C:G 6645_6112_2038_H->D 0.000199681 144 chr11:121495816:A:T 6645_6194_2065_D->V 0.000798722 144 chr11:121495846:G:C 6645_6224_2075_G->A 0.000199681 144 chr11:121495870:A:G 6645_6248_2083_K->R 0.0111821 144 chr11:121495911:G:A 6645_6289_2097_V->I 0.00119808 144 chr11:121495959:A:G 6645_6337_2113_I->V 0.000199681 144 chr11:121498285:A:G 6645_6386_2129_Q->R 0.000199681 144 chr11:121498300:C:T 6645_6401_2134_T->M 0.000599042 144 chr11:121498326:A:G 6645_6427_2143_I->V 0.000199681 144 chr11:121498338:A:C 6645_6439_2147_I->L 0.000599042 144 chr11:121498378:C:T 6645_6479_2160_T->M 0.000599042 144 chr11:121498408:C:G 6645_6509_2170_T->S 0.0 144 chr11:121498424:C:G 6645_6525_2175_S->R 0.000199681 144 na12878 Variants: 144 chr11:121437819:C:G 6645_3220_1074_Q->E 144 chr11:121491782:G:A 6645_5899_1967_V->I 144 snyder Variants: 144 chr11:121437819:C:G 6645_3220_1074_Q->E 144 chr11:121491782:G:A 6645_5899_1967_V->I 145 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000360655 gene_Name: NAV2_HUMAN 145 list of pdbs: 145 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 145 Zimmer Variants: 145 chr11:19854088:G:A 7098_134_45_R->K 145 chr11:20065779:C:G 7098_2968_990_P->A 145 HGMD Variants: 145 chr11:19955194:G:C 7098_1212_404_Q->H 145 chr11:20139742:G:A 7098_7036_2346_D->N 145 oneKG Variants: 145 chr11:19854088:G:A 7098_134_45_R->K 0.405751 145 chr11:19854090:G:A 7098_136_46_D->N 0.000199681 145 chr11:19901531:G:A 7098_436_146_V->I 0.000199681 145 chr11:19901549:G:A 7098_454_152_A->T 0.000199681 145 chr11:19901610:C:T 7098_515_172_P->L 0.000199681 145 chr11:19913997:C:T 7098_596_199_A->V 0.000399361 145 chr11:19914032:C:A 7098_631_211_R->S 0.000199681 145 chr11:19914062:C:T 7098_661_221_R->C 0.000599042 145 chr11:19914063:G:A 7098_662_221_R->H 0.000199681 145 chr11:19914117:C:A 7098_716_239_P->Q 0.000199681 145 chr11:19914120:C:T 7098_719_240_P->L 0.000199681 145 chr11:19914125:A:G 7098_724_242_S->G 0.000199681 145 chr11:19914134:G:A 7098_733_245_E->K 0.000199681 145 chr11:19954772:C:T 7098_790_264_P->S 0.000399361 145 chr11:19954775:G:C 7098_793_265_A->P 0.000599042 145 chr11:19954793:A:G 7098_811_271_S->G 0.000199681 145 chr11:19954844:G:A 7098_862_288_G->S 0.000199681 145 chr11:19954889:C:A 7098_907_303_H->N 0.000199681 145 chr11:19954910:C:T 7098_928_310_L->F 0.000199681 145 chr11:19955079:T:C 7098_1097_366_L->P 0.000199681 145 chr11:19955085:C:T 7098_1103_368_T->I 0.000199681 145 chr11:19955090:C:T 7098_1108_370_P->S 0.000199681 145 chr11:19955123:G:A 7098_1141_381_A->T 0.000199681 145 chr11:19955194:G:C 7098_1212_404_Q->H 0.108626 145 chr11:19955244:A:G 7098_1262_421_N->S 0.000599042 145 chr11:19955322:C:T 7098_1340_447_T->M 0.00479233 145 chr11:19955336:C:T 7098_1354_452_L->F 0.000199681 145 chr11:19955340:A:G 7098_1358_453_K->R 0.000399361 145 chr11:19955381:G:A 7098_1399_467_E->K 0.000599042 145 chr11:19955416:C:A 7098_1434_478_F->L 0.00159744 145 chr11:19955433:A:T 7098_1451_484_K->M 0.000199681 145 chr11:19955465:C:G 7098_1483_495_P->A 0.000199681 145 chr11:19955505:T:G 7098_1523_508_M->R 0.000399361 145 chr11:19955552:C:T 7098_1570_524_R->W 0.000998403 145 chr11:19955553:G:A 7098_1571_524_R->Q 0.000199681 145 chr11:19955558:C:T 7098_1576_526_R->W 0.00119808 145 chr11:19955645:T:C 7098_1663_555_S->P 0.000599042 145 chr11:19955670:C:G 7098_1688_563_T->S 0.00279553 145 chr11:19961215:C:T 7098_1850_617_T->M 0.000199681 145 chr11:19967991:G:A 7098_1999_667_A->T 0.000199681 145 chr11:19970272:C:T 7098_2099_700_T->M 0.000199681 145 chr11:19970382:G:C 7098_2209_737_G->R 0.000199681 145 chr11:19970428:C:T 7098_2255_752_T->I 0.000998403 145 chr11:19970443:A:G 7098_2270_757_Y->C 0.000199681 145 chr11:19970458:C:T 7098_2285_762_P->L 0.000199681 145 chr11:19970502:G:A 7098_2329_777_V->M 0.000199681 145 chr11:19970508:G:A 7098_2335_779_V->I 0.000798722 145 chr11:19970554:T:C 7098_2381_794_M->T 0.000199681 145 chr11:19970604:C:T 7098_2431_811_R->W 0.000199681 145 chr11:19970605:G:A 7098_2432_811_R->Q 0.000199681 145 chr11:20005717:C:T 7098_2500_834_R->W 0.000199681 145 chr11:20005723:C:T 7098_2506_836_P->S 0.000798722 145 chr11:20005760:G:A 7098_2543_848_R->Q 0.000199681 145 chr11:20057546:C:G 7098_2618_873_T->S 0.000599042 145 chr11:20065624:T:C 7098_2813_938_M->T 0.000199681 145 chr11:20065648:G:A 7098_2837_946_R->Q 0.000399361 145 chr11:20065673:G:T 7098_2862_954_E->D 0.270367 145 chr11:20065732:G:A 7098_2921_974_R->Q 0.000199681 145 chr11:20065735:G:A 7098_2924_975_R->Q 0.000599042 145 chr11:20065779:C:G 7098_2968_990_P->A 0.11861 145 chr11:20066690:A:G 7098_3184_1062_S->G 0.000199681 145 chr11:20066705:G:A 7098_3199_1067_G->S 0.00339457 145 chr11:20066732:G:T 7098_3226_1076_V->L 0.000199681 145 chr11:20066802:C:T 7098_3296_1099_A->V 0.000199681 145 chr11:20066805:G:A 7098_3299_1100_G->D 0.000199681 145 chr11:20066808:G:A 7098_3302_1101_R->Q 0.000399361 145 chr11:20066828:G:A 7098_3322_1108_A->T 0.00399361 145 chr11:20066868:G:A 7098_3362_1121_R->Q 0.000199681 145 chr11:20067020:A:G 7098_3514_1172_T->A 0.000199681 145 chr11:20067141:C:T 7098_3635_1212_P->L 0.000199681 145 chr11:20070431:C:A 7098_3868_1290_P->T 0.000199681 145 chr11:20070441:G:A 7098_3878_1293_S->N 0.00219649 145 chr11:20070500:G:A 7098_3937_1313_A->T 0.000399361 145 chr11:20070533:G:A 7098_3970_1324_A->T 0.000199681 145 chr11:20070668:A:G 7098_4105_1369_I->V 0.00638978 145 chr11:20070703:T:G 7098_4140_1380_F->L 0.000199681 145 chr11:20070731:C:G 7098_4168_1390_L->V 0.000199681 145 chr11:20071386:C:G 7098_4183_1395_L->V 0.000599042 145 chr11:20072845:C:G 7098_4255_1419_L->V 0.000199681 145 chr11:20075649:G:A 7098_4313_1438_R->H 0.000199681 145 chr11:20075661:A:G 7098_4325_1442_D->G 0.000199681 145 chr11:20075703:A:G 7098_4367_1456_Q->R 0.000199681 145 chr11:20075708:A:G 7098_4372_1458_T->A 0.000199681 145 chr11:20075724:C:T 7098_4388_1463_P->L 0.000199681 145 chr11:20075744:G:A 7098_4408_1470_V->M 0.000199681 145 chr11:20075786:G:C 7098_4450_1484_A->P 0.000199681 145 chr11:20077386:G:T 7098_4522_1508_A->S 0.000199681 145 chr11:20077393:G:A 7098_4529_1510_G->E 0.000399361 145 chr11:20077425:C:T 7098_4561_1521_R->W 0.000199681 145 chr11:20099114:C:G 7098_4808_1603_A->G 0.00359425 145 chr11:20099143:A:G 7098_4837_1613_I->V 0.000199681 145 chr11:20101610:G:C 7098_4988_1663_G->A 0.000199681 145 chr11:20101646:G:A 7098_5024_1675_R->H 0.000199681 145 chr11:20101715:A:C 7098_5093_1698_N->T 0.000199681 145 chr11:20101723:A:G 7098_5101_1701_S->G 0.000199681 145 chr11:20104604:G:A 7098_5185_1729_A->T 0.000199681 145 chr11:20104659:C:G 7098_5240_1747_P->R 0.000199681 145 chr11:20104668:C:T 7098_5249_1750_P->L 0.000199681 145 chr11:20104682:A:T 7098_5263_1755_T->S 0.000798722 145 chr11:20113846:C:G 7098_5555_1852_S->C 0.000798722 145 chr11:20113849:C:T 7098_5558_1853_A->V 0.000199681 145 chr11:20113866:A:G 7098_5575_1859_M->V 0.00259585 145 chr11:20117302:C:T 7098_5809_1937_R->W 0.000199681 145 chr11:20117303:G:A 7098_5810_1937_R->Q 0.000998403 145 chr11:20119222:G:A 7098_5920_1974_E->K 0.00179712 145 chr11:20122488:G:A 7098_5995_1999_A->T 0.0071885 145 chr11:20122549:G:A 7098_6056_2019_R->H 0.000199681 145 chr11:20122617:T:C 7098_6124_2042_Y->H 0.000199681 145 chr11:20122663:G:A 7098_6170_2057_R->Q 0.000199681 145 chr11:20124807:C:T 7098_6232_2078_R->C 0.000599042 145 chr11:20124873:G:A 7098_6298_2100_V->I 0.000199681 145 chr11:20124900:G:A 7098_6325_2109_V->M 0.000399361 145 chr11:20125245:A:G 7098_6427_2143_N->D 0.000199681 145 chr11:20127168:C:T 7098_6544_2182_R->W 0.000199681 145 chr11:20127169:G:A 7098_6545_2182_R->Q 0.000199681 145 chr11:20127171:G:T 7098_6547_2183_V->L 0.000199681 145 chr11:20127264:G:A 7098_6640_2214_V->I 0.000199681 145 chr11:20129241:T:A 7098_6681_2227_D->E 0.000199681 145 chr11:20129311:G:A 7098_6751_2251_V->I 0.0223642 145 chr11:20129317:G:A 7098_6757_2253_E->K 0.000199681 145 chr11:20136153:G:A 7098_6784_2262_A->T 0.000199681 145 chr11:20136295:C:T 7098_6926_2309_S->L 0.000199681 145 chr11:20139734:A:G 7098_7028_2343_Y->C 0.000199681 145 chr11:20139768:T:A 7098_7062_2354_D->E 0.000599042 145 na12878 Variants: 145 chr11:20065779:C:G 7098_2968_990_P->A 145 snyder Variants: 145 chr11:20065673:G:T 7098_2862_954_E->D 145 chr11:20065779:C:G 7098_2968_990_P->A 146 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000396085 gene_Name: NAV2_HUMAN 146 list of pdbs: 146 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 146 Zimmer Variants: 146 chr11:19854088:G:A 7299_326_109_R->K 146 chr11:20065779:C:G 7299_3160_1054_P->A 146 HGMD Variants: 146 chr11:19955194:G:C 7299_1404_468_Q->H 146 chr11:20139742:G:A 7299_7237_2413_D->N 146 oneKG Variants: 146 chr11:19735396:A:G 7299_155_52_Y->C 0.000599042 146 chr11:19735407:A:T 7299_166_56_I->F 0.000199681 146 chr11:19735411:C:G 7299_170_57_P->R 0.00678914 146 chr11:19735474:A:T 7299_233_78_K->M 0.000199681 146 chr11:19735499:C:A 7299_258_86_F->L 0.000399361 146 chr11:19854088:G:A 7299_326_109_R->K 0.405751 146 chr11:19854090:G:A 7299_328_110_D->N 0.000199681 146 chr11:19901531:G:A 7299_628_210_V->I 0.000199681 146 chr11:19901549:G:A 7299_646_216_A->T 0.000199681 146 chr11:19901610:C:T 7299_707_236_P->L 0.000199681 146 chr11:19913997:C:T 7299_788_263_A->V 0.000399361 146 chr11:19914032:C:A 7299_823_275_R->S 0.000199681 146 chr11:19914062:C:T 7299_853_285_R->C 0.000599042 146 chr11:19914063:G:A 7299_854_285_R->H 0.000199681 146 chr11:19914117:C:A 7299_908_303_P->Q 0.000199681 146 chr11:19914120:C:T 7299_911_304_P->L 0.000199681 146 chr11:19914125:A:G 7299_916_306_S->G 0.000199681 146 chr11:19914134:G:A 7299_925_309_E->K 0.000199681 146 chr11:19954772:C:T 7299_982_328_P->S 0.000399361 146 chr11:19954775:G:C 7299_985_329_A->P 0.000599042 146 chr11:19954793:A:G 7299_1003_335_S->G 0.000199681 146 chr11:19954844:G:A 7299_1054_352_G->S 0.000199681 146 chr11:19954889:C:A 7299_1099_367_H->N 0.000199681 146 chr11:19954910:C:T 7299_1120_374_L->F 0.000199681 146 chr11:19955079:T:C 7299_1289_430_L->P 0.000199681 146 chr11:19955085:C:T 7299_1295_432_T->I 0.000199681 146 chr11:19955090:C:T 7299_1300_434_P->S 0.000199681 146 chr11:19955123:G:A 7299_1333_445_A->T 0.000199681 146 chr11:19955194:G:C 7299_1404_468_Q->H 0.108626 146 chr11:19955244:A:G 7299_1454_485_N->S 0.000599042 146 chr11:19955322:C:T 7299_1532_511_T->M 0.00479233 146 chr11:19955336:C:T 7299_1546_516_L->F 0.000199681 146 chr11:19955340:A:G 7299_1550_517_K->R 0.000399361 146 chr11:19955381:G:A 7299_1591_531_E->K 0.000599042 146 chr11:19955416:C:A 7299_1626_542_F->L 0.00159744 146 chr11:19955433:A:T 7299_1643_548_K->M 0.000199681 146 chr11:19955465:C:G 7299_1675_559_P->A 0.000199681 146 chr11:19955505:T:G 7299_1715_572_M->R 0.000399361 146 chr11:19955552:C:T 7299_1762_588_R->W 0.000998403 146 chr11:19955553:G:A 7299_1763_588_R->Q 0.000199681 146 chr11:19955558:C:T 7299_1768_590_R->W 0.00119808 146 chr11:19955645:T:C 7299_1855_619_S->P 0.000599042 146 chr11:19955670:C:G 7299_1880_627_T->S 0.00279553 146 chr11:19961215:C:T 7299_2042_681_T->M 0.000199681 146 chr11:19967991:G:A 7299_2191_731_A->T 0.000199681 146 chr11:19970272:C:T 7299_2291_764_T->M 0.000199681 146 chr11:19970382:G:C 7299_2401_801_G->R 0.000199681 146 chr11:19970428:C:T 7299_2447_816_T->I 0.000998403 146 chr11:19970443:A:G 7299_2462_821_Y->C 0.000199681 146 chr11:19970458:C:T 7299_2477_826_P->L 0.000199681 146 chr11:19970502:G:A 7299_2521_841_V->M 0.000199681 146 chr11:19970508:G:A 7299_2527_843_V->I 0.000798722 146 chr11:19970554:T:C 7299_2573_858_M->T 0.000199681 146 chr11:19970604:C:T 7299_2623_875_R->W 0.000199681 146 chr11:19970605:G:A 7299_2624_875_R->Q 0.000199681 146 chr11:20005717:C:T 7299_2692_898_R->W 0.000199681 146 chr11:20005723:C:T 7299_2698_900_P->S 0.000798722 146 chr11:20005760:G:A 7299_2735_912_R->Q 0.000199681 146 chr11:20057546:C:G 7299_2810_937_T->S 0.000599042 146 chr11:20065624:T:C 7299_3005_1002_M->T 0.000199681 146 chr11:20065648:G:A 7299_3029_1010_R->Q 0.000399361 146 chr11:20065673:G:T 7299_3054_1018_E->D 0.270367 146 chr11:20065732:G:A 7299_3113_1038_R->Q 0.000199681 146 chr11:20065735:G:A 7299_3116_1039_R->Q 0.000599042 146 chr11:20065779:C:G 7299_3160_1054_P->A 0.11861 146 chr11:20066690:A:G 7299_3376_1126_S->G 0.000199681 146 chr11:20066705:G:A 7299_3391_1131_G->S 0.00339457 146 chr11:20066732:G:T 7299_3418_1140_V->L 0.000199681 146 chr11:20066802:C:T 7299_3488_1163_A->V 0.000199681 146 chr11:20066805:G:A 7299_3491_1164_G->D 0.000199681 146 chr11:20066808:G:A 7299_3494_1165_R->Q 0.000399361 146 chr11:20066828:G:A 7299_3514_1172_A->T 0.00399361 146 chr11:20066868:G:A 7299_3554_1185_R->Q 0.000199681 146 chr11:20067020:A:G 7299_3706_1236_T->A 0.000199681 146 chr11:20067141:C:T 7299_3827_1276_P->L 0.000199681 146 chr11:20070431:C:A 7299_4060_1354_P->T 0.000199681 146 chr11:20070441:G:A 7299_4070_1357_S->N 0.00219649 146 chr11:20070500:G:A 7299_4129_1377_A->T 0.000399361 146 chr11:20070533:G:A 7299_4162_1388_A->T 0.000199681 146 chr11:20070668:A:G 7299_4297_1433_I->V 0.00638978 146 chr11:20070703:T:G 7299_4332_1444_F->L 0.000199681 146 chr11:20070731:C:G 7299_4360_1454_L->V 0.000199681 146 chr11:20071386:C:G 7299_4375_1459_L->V 0.000599042 146 chr11:20072845:C:G 7299_4447_1483_L->V 0.000199681 146 chr11:20075649:G:A 7299_4505_1502_R->H 0.000199681 146 chr11:20075661:A:G 7299_4517_1506_D->G 0.000199681 146 chr11:20075703:A:G 7299_4559_1520_Q->R 0.000199681 146 chr11:20075708:A:G 7299_4564_1522_T->A 0.000199681 146 chr11:20075724:C:T 7299_4580_1527_P->L 0.000199681 146 chr11:20075744:G:A 7299_4600_1534_V->M 0.000199681 146 chr11:20075786:G:C 7299_4642_1548_A->P 0.000199681 146 chr11:20077386:G:T 7299_4714_1572_A->S 0.000199681 146 chr11:20077393:G:A 7299_4721_1574_G->E 0.000399361 146 chr11:20077425:C:T 7299_4753_1585_R->W 0.000199681 146 chr11:20099114:C:G 7299_5000_1667_A->G 0.00359425 146 chr11:20099143:A:G 7299_5029_1677_I->V 0.000199681 146 chr11:20101610:G:C 7299_5180_1727_G->A 0.000199681 146 chr11:20101646:G:A 7299_5216_1739_R->H 0.000199681 146 chr11:20101715:A:C 7299_5285_1762_N->T 0.000199681 146 chr11:20101723:A:G 7299_5293_1765_S->G 0.000199681 146 chr11:20104604:G:A 7299_5386_1796_A->T 0.000199681 146 chr11:20104659:C:G 7299_5441_1814_P->R 0.000199681 146 chr11:20104668:C:T 7299_5450_1817_P->L 0.000199681 146 chr11:20104682:A:T 7299_5464_1822_T->S 0.000798722 146 chr11:20113846:C:G 7299_5756_1919_S->C 0.000798722 146 chr11:20113849:C:T 7299_5759_1920_A->V 0.000199681 146 chr11:20113866:A:G 7299_5776_1926_M->V 0.00259585 146 chr11:20117302:C:T 7299_6010_2004_R->W 0.000199681 146 chr11:20117303:G:A 7299_6011_2004_R->Q 0.000998403 146 chr11:20119222:G:A 7299_6121_2041_E->K 0.00179712 146 chr11:20122488:G:A 7299_6196_2066_A->T 0.0071885 146 chr11:20122549:G:A 7299_6257_2086_R->H 0.000199681 146 chr11:20122617:T:C 7299_6325_2109_Y->H 0.000199681 146 chr11:20122663:G:A 7299_6371_2124_R->Q 0.000199681 146 chr11:20124807:C:T 7299_6433_2145_R->C 0.000599042 146 chr11:20124873:G:A 7299_6499_2167_V->I 0.000199681 146 chr11:20124900:G:A 7299_6526_2176_V->M 0.000399361 146 chr11:20125245:A:G 7299_6628_2210_N->D 0.000199681 146 chr11:20127168:C:T 7299_6745_2249_R->W 0.000199681 146 chr11:20127169:G:A 7299_6746_2249_R->Q 0.000199681 146 chr11:20127171:G:T 7299_6748_2250_V->L 0.000199681 146 chr11:20127264:G:A 7299_6841_2281_V->I 0.000199681 146 chr11:20129241:T:A 7299_6882_2294_D->E 0.000199681 146 chr11:20129311:G:A 7299_6952_2318_V->I 0.0223642 146 chr11:20129317:G:A 7299_6958_2320_E->K 0.000199681 146 chr11:20136153:G:A 7299_6985_2329_A->T 0.000199681 146 chr11:20136295:C:T 7299_7127_2376_S->L 0.000199681 146 chr11:20139734:A:G 7299_7229_2410_Y->C 0.000199681 146 chr11:20139768:T:A 7299_7263_2421_D->E 0.000599042 146 na12878 Variants: 146 chr11:20065779:C:G 7299_3160_1054_P->A 146 snyder Variants: 146 chr11:20065673:G:T 7299_3054_1018_E->D 146 chr11:20065779:C:G 7299_3160_1054_P->A 147 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000349880 gene_Name: NAV2_HUMAN 147 list of pdbs: 147 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 147 Zimmer Variants: 147 chr11:19854088:G:A 7290_326_109_R->K 147 chr11:20065779:C:G 7290_3160_1054_P->A 147 HGMD Variants: 147 chr11:19955194:G:C 7290_1404_468_Q->H 147 chr11:20139742:G:A 7290_7228_2410_D->N 147 oneKG Variants: 147 chr11:19735396:A:G 7290_155_52_Y->C 0.000599042 147 chr11:19735407:A:T 7290_166_56_I->F 0.000199681 147 chr11:19735411:C:G 7290_170_57_P->R 0.00678914 147 chr11:19735474:A:T 7290_233_78_K->M 0.000199681 147 chr11:19735499:C:A 7290_258_86_F->L 0.000399361 147 chr11:19854088:G:A 7290_326_109_R->K 0.405751 147 chr11:19854090:G:A 7290_328_110_D->N 0.000199681 147 chr11:19901531:G:A 7290_628_210_V->I 0.000199681 147 chr11:19901549:G:A 7290_646_216_A->T 0.000199681 147 chr11:19901610:C:T 7290_707_236_P->L 0.000199681 147 chr11:19913997:C:T 7290_788_263_A->V 0.000399361 147 chr11:19914032:C:A 7290_823_275_R->S 0.000199681 147 chr11:19914062:C:T 7290_853_285_R->C 0.000599042 147 chr11:19914063:G:A 7290_854_285_R->H 0.000199681 147 chr11:19914117:C:A 7290_908_303_P->Q 0.000199681 147 chr11:19914120:C:T 7290_911_304_P->L 0.000199681 147 chr11:19914125:A:G 7290_916_306_S->G 0.000199681 147 chr11:19914134:G:A 7290_925_309_E->K 0.000199681 147 chr11:19954772:C:T 7290_982_328_P->S 0.000399361 147 chr11:19954775:G:C 7290_985_329_A->P 0.000599042 147 chr11:19954793:A:G 7290_1003_335_S->G 0.000199681 147 chr11:19954844:G:A 7290_1054_352_G->S 0.000199681 147 chr11:19954889:C:A 7290_1099_367_H->N 0.000199681 147 chr11:19954910:C:T 7290_1120_374_L->F 0.000199681 147 chr11:19955079:T:C 7290_1289_430_L->P 0.000199681 147 chr11:19955085:C:T 7290_1295_432_T->I 0.000199681 147 chr11:19955090:C:T 7290_1300_434_P->S 0.000199681 147 chr11:19955123:G:A 7290_1333_445_A->T 0.000199681 147 chr11:19955194:G:C 7290_1404_468_Q->H 0.108626 147 chr11:19955244:A:G 7290_1454_485_N->S 0.000599042 147 chr11:19955322:C:T 7290_1532_511_T->M 0.00479233 147 chr11:19955336:C:T 7290_1546_516_L->F 0.000199681 147 chr11:19955340:A:G 7290_1550_517_K->R 0.000399361 147 chr11:19955381:G:A 7290_1591_531_E->K 0.000599042 147 chr11:19955416:C:A 7290_1626_542_F->L 0.00159744 147 chr11:19955433:A:T 7290_1643_548_K->M 0.000199681 147 chr11:19955465:C:G 7290_1675_559_P->A 0.000199681 147 chr11:19955505:T:G 7290_1715_572_M->R 0.000399361 147 chr11:19955552:C:T 7290_1762_588_R->W 0.000998403 147 chr11:19955553:G:A 7290_1763_588_R->Q 0.000199681 147 chr11:19955558:C:T 7290_1768_590_R->W 0.00119808 147 chr11:19955645:T:C 7290_1855_619_S->P 0.000599042 147 chr11:19955670:C:G 7290_1880_627_T->S 0.00279553 147 chr11:19961215:C:T 7290_2042_681_T->M 0.000199681 147 chr11:19967991:G:A 7290_2191_731_A->T 0.000199681 147 chr11:19970272:C:T 7290_2291_764_T->M 0.000199681 147 chr11:19970382:G:C 7290_2401_801_G->R 0.000199681 147 chr11:19970428:C:T 7290_2447_816_T->I 0.000998403 147 chr11:19970443:A:G 7290_2462_821_Y->C 0.000199681 147 chr11:19970458:C:T 7290_2477_826_P->L 0.000199681 147 chr11:19970502:G:A 7290_2521_841_V->M 0.000199681 147 chr11:19970508:G:A 7290_2527_843_V->I 0.000798722 147 chr11:19970554:T:C 7290_2573_858_M->T 0.000199681 147 chr11:19970604:C:T 7290_2623_875_R->W 0.000199681 147 chr11:19970605:G:A 7290_2624_875_R->Q 0.000199681 147 chr11:20005717:C:T 7290_2692_898_R->W 0.000199681 147 chr11:20005723:C:T 7290_2698_900_P->S 0.000798722 147 chr11:20005760:G:A 7290_2735_912_R->Q 0.000199681 147 chr11:20057546:C:G 7290_2810_937_T->S 0.000599042 147 chr11:20065624:T:C 7290_3005_1002_M->T 0.000199681 147 chr11:20065648:G:A 7290_3029_1010_R->Q 0.000399361 147 chr11:20065673:G:T 7290_3054_1018_E->D 0.270367 147 chr11:20065732:G:A 7290_3113_1038_R->Q 0.000199681 147 chr11:20065735:G:A 7290_3116_1039_R->Q 0.000599042 147 chr11:20065779:C:G 7290_3160_1054_P->A 0.11861 147 chr11:20066690:A:G 7290_3376_1126_S->G 0.000199681 147 chr11:20066705:G:A 7290_3391_1131_G->S 0.00339457 147 chr11:20066732:G:T 7290_3418_1140_V->L 0.000199681 147 chr11:20066802:C:T 7290_3488_1163_A->V 0.000199681 147 chr11:20066805:G:A 7290_3491_1164_G->D 0.000199681 147 chr11:20066808:G:A 7290_3494_1165_R->Q 0.000399361 147 chr11:20066828:G:A 7290_3514_1172_A->T 0.00399361 147 chr11:20066868:G:A 7290_3554_1185_R->Q 0.000199681 147 chr11:20067020:A:G 7290_3706_1236_T->A 0.000199681 147 chr11:20067141:C:T 7290_3827_1276_P->L 0.000199681 147 chr11:20070431:C:A 7290_4060_1354_P->T 0.000199681 147 chr11:20070441:G:A 7290_4070_1357_S->N 0.00219649 147 chr11:20070500:G:A 7290_4129_1377_A->T 0.000399361 147 chr11:20070533:G:A 7290_4162_1388_A->T 0.000199681 147 chr11:20070668:A:G 7290_4297_1433_I->V 0.00638978 147 chr11:20070703:T:G 7290_4332_1444_F->L 0.000199681 147 chr11:20070731:C:G 7290_4360_1454_L->V 0.000199681 147 chr11:20071386:C:G 7290_4375_1459_L->V 0.000599042 147 chr11:20072845:C:G 7290_4447_1483_L->V 0.000199681 147 chr11:20075649:G:A 7290_4505_1502_R->H 0.000199681 147 chr11:20075661:A:G 7290_4517_1506_D->G 0.000199681 147 chr11:20075703:A:G 7290_4559_1520_Q->R 0.000199681 147 chr11:20075708:A:G 7290_4564_1522_T->A 0.000199681 147 chr11:20075724:C:T 7290_4580_1527_P->L 0.000199681 147 chr11:20075744:G:A 7290_4600_1534_V->M 0.000199681 147 chr11:20075786:G:C 7290_4642_1548_A->P 0.000199681 147 chr11:20077386:G:T 7290_4714_1572_A->S 0.000199681 147 chr11:20077393:G:A 7290_4721_1574_G->E 0.000399361 147 chr11:20077425:C:T 7290_4753_1585_R->W 0.000199681 147 chr11:20099114:C:G 7290_5000_1667_A->G 0.00359425 147 chr11:20099143:A:G 7290_5029_1677_I->V 0.000199681 147 chr11:20101610:G:C 7290_5180_1727_G->A 0.000199681 147 chr11:20101646:G:A 7290_5216_1739_R->H 0.000199681 147 chr11:20101715:A:C 7290_5285_1762_N->T 0.000199681 147 chr11:20101723:A:G 7290_5293_1765_S->G 0.000199681 147 chr11:20104604:G:A 7290_5377_1793_A->T 0.000199681 147 chr11:20104659:C:G 7290_5432_1811_P->R 0.000199681 147 chr11:20104668:C:T 7290_5441_1814_P->L 0.000199681 147 chr11:20104682:A:T 7290_5455_1819_T->S 0.000798722 147 chr11:20113846:C:G 7290_5747_1916_S->C 0.000798722 147 chr11:20113849:C:T 7290_5750_1917_A->V 0.000199681 147 chr11:20113866:A:G 7290_5767_1923_M->V 0.00259585 147 chr11:20117302:C:T 7290_6001_2001_R->W 0.000199681 147 chr11:20117303:G:A 7290_6002_2001_R->Q 0.000998403 147 chr11:20119222:G:A 7290_6112_2038_E->K 0.00179712 147 chr11:20122488:G:A 7290_6187_2063_A->T 0.0071885 147 chr11:20122549:G:A 7290_6248_2083_R->H 0.000199681 147 chr11:20122617:T:C 7290_6316_2106_Y->H 0.000199681 147 chr11:20122663:G:A 7290_6362_2121_R->Q 0.000199681 147 chr11:20124807:C:T 7290_6424_2142_R->C 0.000599042 147 chr11:20124873:G:A 7290_6490_2164_V->I 0.000199681 147 chr11:20124900:G:A 7290_6517_2173_V->M 0.000399361 147 chr11:20125245:A:G 7290_6619_2207_N->D 0.000199681 147 chr11:20127168:C:T 7290_6736_2246_R->W 0.000199681 147 chr11:20127169:G:A 7290_6737_2246_R->Q 0.000199681 147 chr11:20127171:G:T 7290_6739_2247_V->L 0.000199681 147 chr11:20127264:G:A 7290_6832_2278_V->I 0.000199681 147 chr11:20129241:T:A 7290_6873_2291_D->E 0.000199681 147 chr11:20129311:G:A 7290_6943_2315_V->I 0.0223642 147 chr11:20129317:G:A 7290_6949_2317_E->K 0.000199681 147 chr11:20136153:G:A 7290_6976_2326_A->T 0.000199681 147 chr11:20136295:C:T 7290_7118_2373_S->L 0.000199681 147 chr11:20139734:A:G 7290_7220_2407_Y->C 0.000199681 147 chr11:20139768:T:A 7290_7254_2418_D->E 0.000599042 147 na12878 Variants: 147 chr11:20065779:C:G 7290_3160_1054_P->A 147 snyder Variants: 147 chr11:20065673:G:T 7290_3054_1018_E->D 147 chr11:20065779:C:G 7290_3160_1054_P->A 148 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000396087 gene_Name: NAV2_HUMAN 148 list of pdbs: 148 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 148 Zimmer Variants: 148 chr11:19854088:G:A 7467_326_109_R->K 148 chr11:20065779:C:G 7467_3229_1077_P->A 148 HGMD Variants: 148 chr11:19955194:G:C 7467_1473_491_Q->H 148 chr11:20139742:G:A 7467_7405_2469_D->N 148 oneKG Variants: 148 chr11:19735396:A:G 7467_155_52_Y->C 0.000599042 148 chr11:19735407:A:T 7467_166_56_I->F 0.000199681 148 chr11:19735411:C:G 7467_170_57_P->R 0.00678914 148 chr11:19735474:A:T 7467_233_78_K->M 0.000199681 148 chr11:19735499:C:A 7467_258_86_F->L 0.000399361 148 chr11:19854088:G:A 7467_326_109_R->K 0.405751 148 chr11:19854090:G:A 7467_328_110_D->N 0.000199681 148 chr11:19901531:G:A 7467_628_210_V->I 0.000199681 148 chr11:19901549:G:A 7467_646_216_A->T 0.000199681 148 chr11:19901610:C:T 7467_707_236_P->L 0.000199681 148 chr11:19913997:C:T 7467_857_286_A->V 0.000399361 148 chr11:19914032:C:A 7467_892_298_R->S 0.000199681 148 chr11:19914062:C:T 7467_922_308_R->C 0.000599042 148 chr11:19914063:G:A 7467_923_308_R->H 0.000199681 148 chr11:19914117:C:A 7467_977_326_P->Q 0.000199681 148 chr11:19914120:C:T 7467_980_327_P->L 0.000199681 148 chr11:19914125:A:G 7467_985_329_S->G 0.000199681 148 chr11:19914134:G:A 7467_994_332_E->K 0.000199681 148 chr11:19954772:C:T 7467_1051_351_P->S 0.000399361 148 chr11:19954775:G:C 7467_1054_352_A->P 0.000599042 148 chr11:19954793:A:G 7467_1072_358_S->G 0.000199681 148 chr11:19954844:G:A 7467_1123_375_G->S 0.000199681 148 chr11:19954889:C:A 7467_1168_390_H->N 0.000199681 148 chr11:19954910:C:T 7467_1189_397_L->F 0.000199681 148 chr11:19955079:T:C 7467_1358_453_L->P 0.000199681 148 chr11:19955085:C:T 7467_1364_455_T->I 0.000199681 148 chr11:19955090:C:T 7467_1369_457_P->S 0.000199681 148 chr11:19955123:G:A 7467_1402_468_A->T 0.000199681 148 chr11:19955194:G:C 7467_1473_491_Q->H 0.108626 148 chr11:19955244:A:G 7467_1523_508_N->S 0.000599042 148 chr11:19955322:C:T 7467_1601_534_T->M 0.00479233 148 chr11:19955336:C:T 7467_1615_539_L->F 0.000199681 148 chr11:19955340:A:G 7467_1619_540_K->R 0.000399361 148 chr11:19955381:G:A 7467_1660_554_E->K 0.000599042 148 chr11:19955416:C:A 7467_1695_565_F->L 0.00159744 148 chr11:19955433:A:T 7467_1712_571_K->M 0.000199681 148 chr11:19955465:C:G 7467_1744_582_P->A 0.000199681 148 chr11:19955505:T:G 7467_1784_595_M->R 0.000399361 148 chr11:19955552:C:T 7467_1831_611_R->W 0.000998403 148 chr11:19955553:G:A 7467_1832_611_R->Q 0.000199681 148 chr11:19955558:C:T 7467_1837_613_R->W 0.00119808 148 chr11:19955645:T:C 7467_1924_642_S->P 0.000599042 148 chr11:19955670:C:G 7467_1949_650_T->S 0.00279553 148 chr11:19961215:C:T 7467_2111_704_T->M 0.000199681 148 chr11:19967991:G:A 7467_2260_754_A->T 0.000199681 148 chr11:19970272:C:T 7467_2360_787_T->M 0.000199681 148 chr11:19970382:G:C 7467_2470_824_G->R 0.000199681 148 chr11:19970428:C:T 7467_2516_839_T->I 0.000998403 148 chr11:19970443:A:G 7467_2531_844_Y->C 0.000199681 148 chr11:19970458:C:T 7467_2546_849_P->L 0.000199681 148 chr11:19970502:G:A 7467_2590_864_V->M 0.000199681 148 chr11:19970508:G:A 7467_2596_866_V->I 0.000798722 148 chr11:19970554:T:C 7467_2642_881_M->T 0.000199681 148 chr11:19970604:C:T 7467_2692_898_R->W 0.000199681 148 chr11:19970605:G:A 7467_2693_898_R->Q 0.000199681 148 chr11:20005717:C:T 7467_2761_921_R->W 0.000199681 148 chr11:20005723:C:T 7467_2767_923_P->S 0.000798722 148 chr11:20005760:G:A 7467_2804_935_R->Q 0.000199681 148 chr11:20057546:C:G 7467_2879_960_T->S 0.000599042 148 chr11:20065624:T:C 7467_3074_1025_M->T 0.000199681 148 chr11:20065648:G:A 7467_3098_1033_R->Q 0.000399361 148 chr11:20065673:G:T 7467_3123_1041_E->D 0.270367 148 chr11:20065732:G:A 7467_3182_1061_R->Q 0.000199681 148 chr11:20065735:G:A 7467_3185_1062_R->Q 0.000599042 148 chr11:20065779:C:G 7467_3229_1077_P->A 0.11861 148 chr11:20066690:A:G 7467_3445_1149_S->G 0.000199681 148 chr11:20066705:G:A 7467_3460_1154_G->S 0.00339457 148 chr11:20066732:G:T 7467_3487_1163_V->L 0.000199681 148 chr11:20066802:C:T 7467_3557_1186_A->V 0.000199681 148 chr11:20066805:G:A 7467_3560_1187_G->D 0.000199681 148 chr11:20066808:G:A 7467_3563_1188_R->Q 0.000399361 148 chr11:20066828:G:A 7467_3583_1195_A->T 0.00399361 148 chr11:20066868:G:A 7467_3623_1208_R->Q 0.000199681 148 chr11:20067020:A:G 7467_3775_1259_T->A 0.000199681 148 chr11:20067141:C:T 7467_3896_1299_P->L 0.000199681 148 chr11:20070431:C:A 7467_4129_1377_P->T 0.000199681 148 chr11:20070441:G:A 7467_4139_1380_S->N 0.00219649 148 chr11:20070500:G:A 7467_4198_1400_A->T 0.000399361 148 chr11:20070533:G:A 7467_4231_1411_A->T 0.000199681 148 chr11:20070668:A:G 7467_4366_1456_I->V 0.00638978 148 chr11:20070703:T:G 7467_4401_1467_F->L 0.000199681 148 chr11:20070731:C:G 7467_4429_1477_L->V 0.000199681 148 chr11:20071386:C:G 7467_4444_1482_L->V 0.000599042 148 chr11:20072845:C:G 7467_4516_1506_L->V 0.000199681 148 chr11:20075649:G:A 7467_4574_1525_R->H 0.000199681 148 chr11:20075661:A:G 7467_4586_1529_D->G 0.000199681 148 chr11:20075703:A:G 7467_4628_1543_Q->R 0.000199681 148 chr11:20075708:A:G 7467_4633_1545_T->A 0.000199681 148 chr11:20075724:C:T 7467_4649_1550_P->L 0.000199681 148 chr11:20075744:G:A 7467_4669_1557_V->M 0.000199681 148 chr11:20075786:G:C 7467_4711_1571_A->P 0.000199681 148 chr11:20077386:G:T 7467_4783_1595_A->S 0.000199681 148 chr11:20077393:G:A 7467_4790_1597_G->E 0.000399361 148 chr11:20077425:C:T 7467_4822_1608_R->W 0.000199681 148 chr11:20078138:T:C 7467_4963_1655_S->P 0.000199681 148 chr11:20099114:C:G 7467_5168_1723_A->G 0.00359425 148 chr11:20099143:A:G 7467_5197_1733_I->V 0.000199681 148 chr11:20101610:G:C 7467_5348_1783_G->A 0.000199681 148 chr11:20101646:G:A 7467_5384_1795_R->H 0.000199681 148 chr11:20101715:A:C 7467_5453_1818_N->T 0.000199681 148 chr11:20101723:A:G 7467_5461_1821_S->G 0.000199681 148 chr11:20104604:G:A 7467_5554_1852_A->T 0.000199681 148 chr11:20104659:C:G 7467_5609_1870_P->R 0.000199681 148 chr11:20104668:C:T 7467_5618_1873_P->L 0.000199681 148 chr11:20104682:A:T 7467_5632_1878_T->S 0.000798722 148 chr11:20113846:C:G 7467_5924_1975_S->C 0.000798722 148 chr11:20113849:C:T 7467_5927_1976_A->V 0.000199681 148 chr11:20113866:A:G 7467_5944_1982_M->V 0.00259585 148 chr11:20117302:C:T 7467_6178_2060_R->W 0.000199681 148 chr11:20117303:G:A 7467_6179_2060_R->Q 0.000998403 148 chr11:20119222:G:A 7467_6289_2097_E->K 0.00179712 148 chr11:20122488:G:A 7467_6364_2122_A->T 0.0071885 148 chr11:20122549:G:A 7467_6425_2142_R->H 0.000199681 148 chr11:20122617:T:C 7467_6493_2165_Y->H 0.000199681 148 chr11:20122663:G:A 7467_6539_2180_R->Q 0.000199681 148 chr11:20124807:C:T 7467_6601_2201_R->C 0.000599042 148 chr11:20124873:G:A 7467_6667_2223_V->I 0.000199681 148 chr11:20124900:G:A 7467_6694_2232_V->M 0.000399361 148 chr11:20125245:A:G 7467_6796_2266_N->D 0.000199681 148 chr11:20127168:C:T 7467_6913_2305_R->W 0.000199681 148 chr11:20127169:G:A 7467_6914_2305_R->Q 0.000199681 148 chr11:20127171:G:T 7467_6916_2306_V->L 0.000199681 148 chr11:20127264:G:A 7467_7009_2337_V->I 0.000199681 148 chr11:20129241:T:A 7467_7050_2350_D->E 0.000199681 148 chr11:20129311:G:A 7467_7120_2374_V->I 0.0223642 148 chr11:20129317:G:A 7467_7126_2376_E->K 0.000199681 148 chr11:20136153:G:A 7467_7153_2385_A->T 0.000199681 148 chr11:20136295:C:T 7467_7295_2432_S->L 0.000199681 148 chr11:20139734:A:G 7467_7397_2466_Y->C 0.000199681 148 chr11:20139768:T:A 7467_7431_2477_D->E 0.000599042 148 na12878 Variants: 148 chr11:20065779:C:G 7467_3229_1077_P->A 148 snyder Variants: 148 chr11:20065673:G:T 7467_3123_1041_E->D 148 chr11:20065779:C:G 7467_3229_1077_P->A 149 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000527559 gene_Name: NAV2_HUMAN 149 list of pdbs: 149 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 149 Zimmer Variants: 149 chr11:19854088:G:A 7254_113_38_R->K 149 chr11:20065779:C:G 7254_3016_1006_P->A 149 HGMD Variants: 149 chr11:19955194:G:C 7254_1260_420_Q->H 149 chr11:20139742:G:A 7254_7192_2398_D->N 149 oneKG Variants: 149 chr11:19854088:G:A 7254_113_38_R->K 0.405751 149 chr11:19854090:G:A 7254_115_39_D->N 0.000199681 149 chr11:19901531:G:A 7254_415_139_V->I 0.000199681 149 chr11:19901549:G:A 7254_433_145_A->T 0.000199681 149 chr11:19901610:C:T 7254_494_165_P->L 0.000199681 149 chr11:19913997:C:T 7254_644_215_A->V 0.000399361 149 chr11:19914032:C:A 7254_679_227_R->S 0.000199681 149 chr11:19914062:C:T 7254_709_237_R->C 0.000599042 149 chr11:19914063:G:A 7254_710_237_R->H 0.000199681 149 chr11:19914117:C:A 7254_764_255_P->Q 0.000199681 149 chr11:19914120:C:T 7254_767_256_P->L 0.000199681 149 chr11:19914125:A:G 7254_772_258_S->G 0.000199681 149 chr11:19914134:G:A 7254_781_261_E->K 0.000199681 149 chr11:19954772:C:T 7254_838_280_P->S 0.000399361 149 chr11:19954775:G:C 7254_841_281_A->P 0.000599042 149 chr11:19954793:A:G 7254_859_287_S->G 0.000199681 149 chr11:19954844:G:A 7254_910_304_G->S 0.000199681 149 chr11:19954889:C:A 7254_955_319_H->N 0.000199681 149 chr11:19954910:C:T 7254_976_326_L->F 0.000199681 149 chr11:19955079:T:C 7254_1145_382_L->P 0.000199681 149 chr11:19955085:C:T 7254_1151_384_T->I 0.000199681 149 chr11:19955090:C:T 7254_1156_386_P->S 0.000199681 149 chr11:19955123:G:A 7254_1189_397_A->T 0.000199681 149 chr11:19955194:G:C 7254_1260_420_Q->H 0.108626 149 chr11:19955244:A:G 7254_1310_437_N->S 0.000599042 149 chr11:19955322:C:T 7254_1388_463_T->M 0.00479233 149 chr11:19955336:C:T 7254_1402_468_L->F 0.000199681 149 chr11:19955340:A:G 7254_1406_469_K->R 0.000399361 149 chr11:19955381:G:A 7254_1447_483_E->K 0.000599042 149 chr11:19955416:C:A 7254_1482_494_F->L 0.00159744 149 chr11:19955433:A:T 7254_1499_500_K->M 0.000199681 149 chr11:19955465:C:G 7254_1531_511_P->A 0.000199681 149 chr11:19955505:T:G 7254_1571_524_M->R 0.000399361 149 chr11:19955552:C:T 7254_1618_540_R->W 0.000998403 149 chr11:19955553:G:A 7254_1619_540_R->Q 0.000199681 149 chr11:19955558:C:T 7254_1624_542_R->W 0.00119808 149 chr11:19955645:T:C 7254_1711_571_S->P 0.000599042 149 chr11:19955670:C:G 7254_1736_579_T->S 0.00279553 149 chr11:19961215:C:T 7254_1898_633_T->M 0.000199681 149 chr11:19967991:G:A 7254_2047_683_A->T 0.000199681 149 chr11:19970272:C:T 7254_2147_716_T->M 0.000199681 149 chr11:19970382:G:C 7254_2257_753_G->R 0.000199681 149 chr11:19970428:C:T 7254_2303_768_T->I 0.000998403 149 chr11:19970443:A:G 7254_2318_773_Y->C 0.000199681 149 chr11:19970458:C:T 7254_2333_778_P->L 0.000199681 149 chr11:19970502:G:A 7254_2377_793_V->M 0.000199681 149 chr11:19970508:G:A 7254_2383_795_V->I 0.000798722 149 chr11:19970554:T:C 7254_2429_810_M->T 0.000199681 149 chr11:19970604:C:T 7254_2479_827_R->W 0.000199681 149 chr11:19970605:G:A 7254_2480_827_R->Q 0.000199681 149 chr11:20005717:C:T 7254_2548_850_R->W 0.000199681 149 chr11:20005723:C:T 7254_2554_852_P->S 0.000798722 149 chr11:20005760:G:A 7254_2591_864_R->Q 0.000199681 149 chr11:20057546:C:G 7254_2666_889_T->S 0.000599042 149 chr11:20065624:T:C 7254_2861_954_M->T 0.000199681 149 chr11:20065648:G:A 7254_2885_962_R->Q 0.000399361 149 chr11:20065673:G:T 7254_2910_970_E->D 0.270367 149 chr11:20065732:G:A 7254_2969_990_R->Q 0.000199681 149 chr11:20065735:G:A 7254_2972_991_R->Q 0.000599042 149 chr11:20065779:C:G 7254_3016_1006_P->A 0.11861 149 chr11:20066690:A:G 7254_3232_1078_S->G 0.000199681 149 chr11:20066705:G:A 7254_3247_1083_G->S 0.00339457 149 chr11:20066732:G:T 7254_3274_1092_V->L 0.000199681 149 chr11:20066802:C:T 7254_3344_1115_A->V 0.000199681 149 chr11:20066805:G:A 7254_3347_1116_G->D 0.000199681 149 chr11:20066808:G:A 7254_3350_1117_R->Q 0.000399361 149 chr11:20066828:G:A 7254_3370_1124_A->T 0.00399361 149 chr11:20066868:G:A 7254_3410_1137_R->Q 0.000199681 149 chr11:20067020:A:G 7254_3562_1188_T->A 0.000199681 149 chr11:20067141:C:T 7254_3683_1228_P->L 0.000199681 149 chr11:20070431:C:A 7254_3916_1306_P->T 0.000199681 149 chr11:20070441:G:A 7254_3926_1309_S->N 0.00219649 149 chr11:20070500:G:A 7254_3985_1329_A->T 0.000399361 149 chr11:20070533:G:A 7254_4018_1340_A->T 0.000199681 149 chr11:20070668:A:G 7254_4153_1385_I->V 0.00638978 149 chr11:20070703:T:G 7254_4188_1396_F->L 0.000199681 149 chr11:20070731:C:G 7254_4216_1406_L->V 0.000199681 149 chr11:20071386:C:G 7254_4231_1411_L->V 0.000599042 149 chr11:20072845:C:G 7254_4303_1435_L->V 0.000199681 149 chr11:20075649:G:A 7254_4361_1454_R->H 0.000199681 149 chr11:20075661:A:G 7254_4373_1458_D->G 0.000199681 149 chr11:20075703:A:G 7254_4415_1472_Q->R 0.000199681 149 chr11:20075708:A:G 7254_4420_1474_T->A 0.000199681 149 chr11:20075724:C:T 7254_4436_1479_P->L 0.000199681 149 chr11:20075744:G:A 7254_4456_1486_V->M 0.000199681 149 chr11:20075786:G:C 7254_4498_1500_A->P 0.000199681 149 chr11:20077386:G:T 7254_4570_1524_A->S 0.000199681 149 chr11:20077393:G:A 7254_4577_1526_G->E 0.000399361 149 chr11:20077425:C:T 7254_4609_1537_R->W 0.000199681 149 chr11:20078138:T:C 7254_4750_1584_S->P 0.000199681 149 chr11:20099114:C:G 7254_4955_1652_A->G 0.00359425 149 chr11:20099143:A:G 7254_4984_1662_I->V 0.000199681 149 chr11:20101610:G:C 7254_5135_1712_G->A 0.000199681 149 chr11:20101646:G:A 7254_5171_1724_R->H 0.000199681 149 chr11:20101715:A:C 7254_5240_1747_N->T 0.000199681 149 chr11:20101723:A:G 7254_5248_1750_S->G 0.000199681 149 chr11:20104604:G:A 7254_5341_1781_A->T 0.000199681 149 chr11:20104659:C:G 7254_5396_1799_P->R 0.000199681 149 chr11:20104668:C:T 7254_5405_1802_P->L 0.000199681 149 chr11:20104682:A:T 7254_5419_1807_T->S 0.000798722 149 chr11:20113846:C:G 7254_5711_1904_S->C 0.000798722 149 chr11:20113849:C:T 7254_5714_1905_A->V 0.000199681 149 chr11:20113866:A:G 7254_5731_1911_M->V 0.00259585 149 chr11:20117302:C:T 7254_5965_1989_R->W 0.000199681 149 chr11:20117303:G:A 7254_5966_1989_R->Q 0.000998403 149 chr11:20119222:G:A 7254_6076_2026_E->K 0.00179712 149 chr11:20122488:G:A 7254_6151_2051_A->T 0.0071885 149 chr11:20122549:G:A 7254_6212_2071_R->H 0.000199681 149 chr11:20122617:T:C 7254_6280_2094_Y->H 0.000199681 149 chr11:20122663:G:A 7254_6326_2109_R->Q 0.000199681 149 chr11:20124807:C:T 7254_6388_2130_R->C 0.000599042 149 chr11:20124873:G:A 7254_6454_2152_V->I 0.000199681 149 chr11:20124900:G:A 7254_6481_2161_V->M 0.000399361 149 chr11:20125245:A:G 7254_6583_2195_N->D 0.000199681 149 chr11:20127168:C:T 7254_6700_2234_R->W 0.000199681 149 chr11:20127169:G:A 7254_6701_2234_R->Q 0.000199681 149 chr11:20127171:G:T 7254_6703_2235_V->L 0.000199681 149 chr11:20127264:G:A 7254_6796_2266_V->I 0.000199681 149 chr11:20129241:T:A 7254_6837_2279_D->E 0.000199681 149 chr11:20129311:G:A 7254_6907_2303_V->I 0.0223642 149 chr11:20129317:G:A 7254_6913_2305_E->K 0.000199681 149 chr11:20136153:G:A 7254_6940_2314_A->T 0.000199681 149 chr11:20136295:C:T 7254_7082_2361_S->L 0.000199681 149 chr11:20139734:A:G 7254_7184_2395_Y->C 0.000199681 149 chr11:20139768:T:A 7254_7218_2406_D->E 0.000599042 149 na12878 Variants: 149 chr11:20065779:C:G 7254_3016_1006_P->A 149 snyder Variants: 149 chr11:20065673:G:T 7254_2910_970_E->D 149 chr11:20065779:C:G 7254_3016_1006_P->A 150 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000540292 gene_Name: NAV2_HUMAN 150 list of pdbs: 150 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 150 Zimmer Variants: 150 chr11:19854088:G:A 7260_119_40_R->K;GNEG=Yes;GENE=NAV2;CDSS=3;DBRECUR=NAV2 150 chr11:20065779:C:G 7260_3022_1008_P->A 150 HGMD Variants: 150 chr11:19955194:G:C 7260_1266_422_Q->H 150 chr11:20139742:G:A 7260_7198_2400_D->N 150 oneKG Variants: 150 chr11:19799523:C:T 7260_52_18_P->S 0.00259585 150 chr11:19854088:G:A 7260_119_40_R->K 0.405751 150 chr11:19854090:G:A 7260_121_41_D->N 0.000199681 150 chr11:19901531:G:A 7260_421_141_V->I 0.000199681 150 chr11:19901549:G:A 7260_439_147_A->T 0.000199681 150 chr11:19901610:C:T 7260_500_167_P->L 0.000199681 150 chr11:19913997:C:T 7260_650_217_A->V 0.000399361 150 chr11:19914032:C:A 7260_685_229_R->S 0.000199681 150 chr11:19914062:C:T 7260_715_239_R->C 0.000599042 150 chr11:19914063:G:A 7260_716_239_R->H 0.000199681 150 chr11:19914117:C:A 7260_770_257_P->Q 0.000199681 150 chr11:19914120:C:T 7260_773_258_P->L 0.000199681 150 chr11:19914125:A:G 7260_778_260_S->G 0.000199681 150 chr11:19914134:G:A 7260_787_263_E->K 0.000199681 150 chr11:19954772:C:T 7260_844_282_P->S 0.000399361 150 chr11:19954775:G:C 7260_847_283_A->P 0.000599042 150 chr11:19954793:A:G 7260_865_289_S->G 0.000199681 150 chr11:19954844:G:A 7260_916_306_G->S 0.000199681 150 chr11:19954889:C:A 7260_961_321_H->N 0.000199681 150 chr11:19954910:C:T 7260_982_328_L->F 0.000199681 150 chr11:19955079:T:C 7260_1151_384_L->P 0.000199681 150 chr11:19955085:C:T 7260_1157_386_T->I 0.000199681 150 chr11:19955090:C:T 7260_1162_388_P->S 0.000199681 150 chr11:19955123:G:A 7260_1195_399_A->T 0.000199681 150 chr11:19955194:G:C 7260_1266_422_Q->H 0.108626 150 chr11:19955244:A:G 7260_1316_439_N->S 0.000599042 150 chr11:19955322:C:T 7260_1394_465_T->M 0.00479233 150 chr11:19955336:C:T 7260_1408_470_L->F 0.000199681 150 chr11:19955340:A:G 7260_1412_471_K->R 0.000399361 150 chr11:19955381:G:A 7260_1453_485_E->K 0.000599042 150 chr11:19955416:C:A 7260_1488_496_F->L 0.00159744 150 chr11:19955433:A:T 7260_1505_502_K->M 0.000199681 150 chr11:19955465:C:G 7260_1537_513_P->A 0.000199681 150 chr11:19955505:T:G 7260_1577_526_M->R 0.000399361 150 chr11:19955552:C:T 7260_1624_542_R->W 0.000998403 150 chr11:19955553:G:A 7260_1625_542_R->Q 0.000199681 150 chr11:19955558:C:T 7260_1630_544_R->W 0.00119808 150 chr11:19955645:T:C 7260_1717_573_S->P 0.000599042 150 chr11:19955670:C:G 7260_1742_581_T->S 0.00279553 150 chr11:19961215:C:T 7260_1904_635_T->M 0.000199681 150 chr11:19967991:G:A 7260_2053_685_A->T 0.000199681 150 chr11:19970272:C:T 7260_2153_718_T->M 0.000199681 150 chr11:19970382:G:C 7260_2263_755_G->R 0.000199681 150 chr11:19970428:C:T 7260_2309_770_T->I 0.000998403 150 chr11:19970443:A:G 7260_2324_775_Y->C 0.000199681 150 chr11:19970458:C:T 7260_2339_780_P->L 0.000199681 150 chr11:19970502:G:A 7260_2383_795_V->M 0.000199681 150 chr11:19970508:G:A 7260_2389_797_V->I 0.000798722 150 chr11:19970554:T:C 7260_2435_812_M->T 0.000199681 150 chr11:19970604:C:T 7260_2485_829_R->W 0.000199681 150 chr11:19970605:G:A 7260_2486_829_R->Q 0.000199681 150 chr11:20005717:C:T 7260_2554_852_R->W 0.000199681 150 chr11:20005723:C:T 7260_2560_854_P->S 0.000798722 150 chr11:20005760:G:A 7260_2597_866_R->Q 0.000199681 150 chr11:20057546:C:G 7260_2672_891_T->S 0.000599042 150 chr11:20065624:T:C 7260_2867_956_M->T 0.000199681 150 chr11:20065648:G:A 7260_2891_964_R->Q 0.000399361 150 chr11:20065673:G:T 7260_2916_972_E->D 0.270367 150 chr11:20065732:G:A 7260_2975_992_R->Q 0.000199681 150 chr11:20065735:G:A 7260_2978_993_R->Q 0.000599042 150 chr11:20065779:C:G 7260_3022_1008_P->A 0.11861 150 chr11:20066690:A:G 7260_3238_1080_S->G 0.000199681 150 chr11:20066705:G:A 7260_3253_1085_G->S 0.00339457 150 chr11:20066732:G:T 7260_3280_1094_V->L 0.000199681 150 chr11:20066802:C:T 7260_3350_1117_A->V 0.000199681 150 chr11:20066805:G:A 7260_3353_1118_G->D 0.000199681 150 chr11:20066808:G:A 7260_3356_1119_R->Q 0.000399361 150 chr11:20066828:G:A 7260_3376_1126_A->T 0.00399361 150 chr11:20066868:G:A 7260_3416_1139_R->Q 0.000199681 150 chr11:20067020:A:G 7260_3568_1190_T->A 0.000199681 150 chr11:20067141:C:T 7260_3689_1230_P->L 0.000199681 150 chr11:20070431:C:A 7260_3922_1308_P->T 0.000199681 150 chr11:20070441:G:A 7260_3932_1311_S->N 0.00219649 150 chr11:20070500:G:A 7260_3991_1331_A->T 0.000399361 150 chr11:20070533:G:A 7260_4024_1342_A->T 0.000199681 150 chr11:20070668:A:G 7260_4159_1387_I->V 0.00638978 150 chr11:20070703:T:G 7260_4194_1398_F->L 0.000199681 150 chr11:20070731:C:G 7260_4222_1408_L->V 0.000199681 150 chr11:20071386:C:G 7260_4237_1413_L->V 0.000599042 150 chr11:20072845:C:G 7260_4309_1437_L->V 0.000199681 150 chr11:20075649:G:A 7260_4367_1456_R->H 0.000199681 150 chr11:20075661:A:G 7260_4379_1460_D->G 0.000199681 150 chr11:20075703:A:G 7260_4421_1474_Q->R 0.000199681 150 chr11:20075708:A:G 7260_4426_1476_T->A 0.000199681 150 chr11:20075724:C:T 7260_4442_1481_P->L 0.000199681 150 chr11:20075744:G:A 7260_4462_1488_V->M 0.000199681 150 chr11:20075786:G:C 7260_4504_1502_A->P 0.000199681 150 chr11:20077386:G:T 7260_4576_1526_A->S 0.000199681 150 chr11:20077393:G:A 7260_4583_1528_G->E 0.000399361 150 chr11:20077425:C:T 7260_4615_1539_R->W 0.000199681 150 chr11:20078138:T:C 7260_4756_1586_S->P 0.000199681 150 chr11:20099114:C:G 7260_4961_1654_A->G 0.00359425 150 chr11:20099143:A:G 7260_4990_1664_I->V 0.000199681 150 chr11:20101610:G:C 7260_5141_1714_G->A 0.000199681 150 chr11:20101646:G:A 7260_5177_1726_R->H 0.000199681 150 chr11:20101715:A:C 7260_5246_1749_N->T 0.000199681 150 chr11:20101723:A:G 7260_5254_1752_S->G 0.000199681 150 chr11:20104604:G:A 7260_5347_1783_A->T 0.000199681 150 chr11:20104659:C:G 7260_5402_1801_P->R 0.000199681 150 chr11:20104668:C:T 7260_5411_1804_P->L 0.000199681 150 chr11:20104682:A:T 7260_5425_1809_T->S 0.000798722 150 chr11:20113846:C:G 7260_5717_1906_S->C 0.000798722 150 chr11:20113849:C:T 7260_5720_1907_A->V 0.000199681 150 chr11:20113866:A:G 7260_5737_1913_M->V 0.00259585 150 chr11:20117302:C:T 7260_5971_1991_R->W 0.000199681 150 chr11:20117303:G:A 7260_5972_1991_R->Q 0.000998403 150 chr11:20119222:G:A 7260_6082_2028_E->K 0.00179712 150 chr11:20122488:G:A 7260_6157_2053_A->T 0.0071885 150 chr11:20122549:G:A 7260_6218_2073_R->H 0.000199681 150 chr11:20122617:T:C 7260_6286_2096_Y->H 0.000199681 150 chr11:20122663:G:A 7260_6332_2111_R->Q 0.000199681 150 chr11:20124807:C:T 7260_6394_2132_R->C 0.000599042 150 chr11:20124873:G:A 7260_6460_2154_V->I 0.000199681 150 chr11:20124900:G:A 7260_6487_2163_V->M 0.000399361 150 chr11:20125245:A:G 7260_6589_2197_N->D 0.000199681 150 chr11:20127168:C:T 7260_6706_2236_R->W 0.000199681 150 chr11:20127169:G:A 7260_6707_2236_R->Q 0.000199681 150 chr11:20127171:G:T 7260_6709_2237_V->L 0.000199681 150 chr11:20127264:G:A 7260_6802_2268_V->I 0.000199681 150 chr11:20129241:T:A 7260_6843_2281_D->E 0.000199681 150 chr11:20129311:G:A 7260_6913_2305_V->I 0.0223642 150 chr11:20129317:G:A 7260_6919_2307_E->K 0.000199681 150 chr11:20136153:G:A 7260_6946_2316_A->T 0.000199681 150 chr11:20136295:C:T 7260_7088_2363_S->L 0.000199681 150 chr11:20139734:A:G 7260_7190_2397_Y->C 0.000199681 150 chr11:20139768:T:A 7260_7224_2408_D->E 0.000599042 150 na12878 Variants: 150 chr11:20065779:C:G 7260_3022_1008_P->A 150 snyder Variants: 150 chr11:20065673:G:T 7260_2916_972_E->D 150 chr11:20065779:C:G 7260_3022_1008_P->A 151 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000533917 gene_Name: NAV2_HUMAN 151 list of pdbs: 151 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 151 Zimmer Variants: 151 chr11:20065779:C:G 4482_418_140_P->A;GNEG=Yes;GENE=NAV2;CDSS=3;DBRECUR=NAV2 151 HGMD Variants: 151 chr11:20139742:G:A 4482_4420_1474_D->N 151 oneKG Variants: 151 chr11:20057546:C:G 4482_68_23_T->S 0.000599042 151 chr11:20065624:T:C 4482_263_88_M->T 0.000199681 151 chr11:20065648:G:A 4482_287_96_R->Q 0.000399361 151 chr11:20065673:G:T 4482_312_104_E->D 0.270367 151 chr11:20065732:G:A 4482_371_124_R->Q 0.000199681 151 chr11:20065735:G:A 4482_374_125_R->Q 0.000599042 151 chr11:20065779:C:G 4482_418_140_P->A 0.11861 151 chr11:20066690:A:G 4482_634_212_S->G 0.000199681 151 chr11:20066705:G:A 4482_649_217_G->S 0.00339457 151 chr11:20066732:G:T 4482_676_226_V->L 0.000199681 151 chr11:20066802:C:T 4482_746_249_A->V 0.000199681 151 chr11:20066805:G:A 4482_749_250_G->D 0.000199681 151 chr11:20066808:G:A 4482_752_251_R->Q 0.000399361 151 chr11:20066828:G:A 4482_772_258_A->T 0.00399361 151 chr11:20066868:G:A 4482_812_271_R->Q 0.000199681 151 chr11:20067020:A:G 4482_964_322_T->A 0.000199681 151 chr11:20067141:C:T 4482_1085_362_P->L 0.000199681 151 chr11:20070431:C:A 4482_1318_440_P->T 0.000199681 151 chr11:20070441:G:A 4482_1328_443_S->N 0.00219649 151 chr11:20070500:G:A 4482_1387_463_A->T 0.000399361 151 chr11:20070533:G:A 4482_1420_474_A->T 0.000199681 151 chr11:20070668:A:G 4482_1555_519_I->V 0.00638978 151 chr11:20070703:T:G 4482_1590_530_F->L 0.000199681 151 chr11:20070731:C:G 4482_1618_540_L->V 0.000199681 151 chr11:20072845:C:G 4482_1639_547_L->V 0.000199681 151 chr11:20075649:G:A 4482_1697_566_R->H 0.000199681 151 chr11:20075661:A:G 4482_1709_570_D->G 0.000199681 151 chr11:20075703:A:G 4482_1751_584_Q->R 0.000199681 151 chr11:20075708:A:G 4482_1756_586_T->A 0.000199681 151 chr11:20075724:C:T 4482_1772_591_P->L 0.000199681 151 chr11:20075744:G:A 4482_1792_598_V->M 0.000199681 151 chr11:20075786:G:C 4482_1834_612_A->P 0.000199681 151 chr11:20077386:G:T 4482_1906_636_A->S 0.000199681 151 chr11:20077393:G:A 4482_1913_638_G->E 0.000399361 151 chr11:20077425:C:T 4482_1945_649_R->W 0.000199681 151 chr11:20099114:C:G 4482_2192_731_A->G 0.00359425 151 chr11:20099143:A:G 4482_2221_741_I->V 0.000199681 151 chr11:20101610:G:C 4482_2372_791_G->A 0.000199681 151 chr11:20101646:G:A 4482_2408_803_R->H 0.000199681 151 chr11:20101715:A:C 4482_2477_826_N->T 0.000199681 151 chr11:20101723:A:G 4482_2485_829_S->G 0.000199681 151 chr11:20104604:G:A 4482_2569_857_A->T 0.000199681 151 chr11:20104659:C:G 4482_2624_875_P->R 0.000199681 151 chr11:20104668:C:T 4482_2633_878_P->L 0.000199681 151 chr11:20104682:A:T 4482_2647_883_T->S 0.000798722 151 chr11:20113846:C:G 4482_2939_980_S->C 0.000798722 151 chr11:20113849:C:T 4482_2942_981_A->V 0.000199681 151 chr11:20113866:A:G 4482_2959_987_M->V 0.00259585 151 chr11:20117302:C:T 4482_3193_1065_R->W 0.000199681 151 chr11:20117303:G:A 4482_3194_1065_R->Q 0.000998403 151 chr11:20119222:G:A 4482_3304_1102_E->K 0.00179712 151 chr11:20122488:G:A 4482_3379_1127_A->T 0.0071885 151 chr11:20122549:G:A 4482_3440_1147_R->H 0.000199681 151 chr11:20122617:T:C 4482_3508_1170_Y->H 0.000199681 151 chr11:20122663:G:A 4482_3554_1185_R->Q 0.000199681 151 chr11:20124807:C:T 4482_3616_1206_R->C 0.000599042 151 chr11:20124873:G:A 4482_3682_1228_V->I 0.000199681 151 chr11:20124900:G:A 4482_3709_1237_V->M 0.000399361 151 chr11:20125245:A:G 4482_3811_1271_N->D 0.000199681 151 chr11:20127168:C:T 4482_3928_1310_R->W 0.000199681 151 chr11:20127169:G:A 4482_3929_1310_R->Q 0.000199681 151 chr11:20127171:G:T 4482_3931_1311_V->L 0.000199681 151 chr11:20127264:G:A 4482_4024_1342_V->I 0.000199681 151 chr11:20129241:T:A 4482_4065_1355_D->E 0.000199681 151 chr11:20129311:G:A 4482_4135_1379_V->I 0.0223642 151 chr11:20129317:G:A 4482_4141_1381_E->K 0.000199681 151 chr11:20136153:G:A 4482_4168_1390_A->T 0.000199681 151 chr11:20136295:C:T 4482_4310_1437_S->L 0.000199681 151 chr11:20139734:A:G 4482_4412_1471_Y->C 0.000199681 151 chr11:20139768:T:A 4482_4446_1482_D->E 0.000599042 151 na12878 Variants: 151 chr11:20065779:C:G 4482_418_140_P->A 151 snyder Variants: 151 chr11:20065673:G:T 4482_312_104_E->D 151 chr11:20065779:C:G 4482_418_140_P->A 152 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166833_ENST00000311043 gene_Name: NAV2_HUMAN 152 list of pdbs: 152 2YRN pdb_description: 12-Feb-08 NMR 20 Solution structure of the ch domain from human neuron navigator 2 152 Zimmer Variants: 152 chr11:20065779:C:G 4482_418_140_P->A 152 HGMD Variants: 152 chr11:20139742:G:A 4482_4420_1474_D->N 152 oneKG Variants: 152 chr11:20057546:C:G 4482_68_23_T->S 0.000599042 152 chr11:20065624:T:C 4482_263_88_M->T 0.000199681 152 chr11:20065648:G:A 4482_287_96_R->Q 0.000399361 152 chr11:20065673:G:T 4482_312_104_E->D 0.270367 152 chr11:20065732:G:A 4482_371_124_R->Q 0.000199681 152 chr11:20065735:G:A 4482_374_125_R->Q 0.000599042 152 chr11:20065779:C:G 4482_418_140_P->A 0.11861 152 chr11:20066690:A:G 4482_634_212_S->G 0.000199681 152 chr11:20066705:G:A 4482_649_217_G->S 0.00339457 152 chr11:20066732:G:T 4482_676_226_V->L 0.000199681 152 chr11:20066802:C:T 4482_746_249_A->V 0.000199681 152 chr11:20066805:G:A 4482_749_250_G->D 0.000199681 152 chr11:20066808:G:A 4482_752_251_R->Q 0.000399361 152 chr11:20066828:G:A 4482_772_258_A->T 0.00399361 152 chr11:20066868:G:A 4482_812_271_R->Q 0.000199681 152 chr11:20067020:A:G 4482_964_322_T->A 0.000199681 152 chr11:20067141:C:T 4482_1085_362_P->L 0.000199681 152 chr11:20070431:C:A 4482_1318_440_P->T 0.000199681 152 chr11:20070441:G:A 4482_1328_443_S->N 0.00219649 152 chr11:20070500:G:A 4482_1387_463_A->T 0.000399361 152 chr11:20070533:G:A 4482_1420_474_A->T 0.000199681 152 chr11:20070668:A:G 4482_1555_519_I->V 0.00638978 152 chr11:20070703:T:G 4482_1590_530_F->L 0.000199681 152 chr11:20070731:C:G 4482_1618_540_L->V 0.000199681 152 chr11:20072845:C:G 4482_1639_547_L->V 0.000199681 152 chr11:20075649:G:A 4482_1697_566_R->H 0.000199681 152 chr11:20075661:A:G 4482_1709_570_D->G 0.000199681 152 chr11:20075703:A:G 4482_1751_584_Q->R 0.000199681 152 chr11:20075708:A:G 4482_1756_586_T->A 0.000199681 152 chr11:20075724:C:T 4482_1772_591_P->L 0.000199681 152 chr11:20075744:G:A 4482_1792_598_V->M 0.000199681 152 chr11:20075786:G:C 4482_1834_612_A->P 0.000199681 152 chr11:20077386:G:T 4482_1906_636_A->S 0.000199681 152 chr11:20077393:G:A 4482_1913_638_G->E 0.000399361 152 chr11:20077425:C:T 4482_1945_649_R->W 0.000199681 152 chr11:20099114:C:G 4482_2192_731_A->G 0.00359425 152 chr11:20099143:A:G 4482_2221_741_I->V 0.000199681 152 chr11:20101610:G:C 4482_2372_791_G->A 0.000199681 152 chr11:20101646:G:A 4482_2408_803_R->H 0.000199681 152 chr11:20101715:A:C 4482_2477_826_N->T 0.000199681 152 chr11:20101723:A:G 4482_2485_829_S->G 0.000199681 152 chr11:20104604:G:A 4482_2569_857_A->T 0.000199681 152 chr11:20104659:C:G 4482_2624_875_P->R 0.000199681 152 chr11:20104668:C:T 4482_2633_878_P->L 0.000199681 152 chr11:20104682:A:T 4482_2647_883_T->S 0.000798722 152 chr11:20113846:C:G 4482_2939_980_S->C 0.000798722 152 chr11:20113849:C:T 4482_2942_981_A->V 0.000199681 152 chr11:20113866:A:G 4482_2959_987_M->V 0.00259585 152 chr11:20117302:C:T 4482_3193_1065_R->W 0.000199681 152 chr11:20117303:G:A 4482_3194_1065_R->Q 0.000998403 152 chr11:20119222:G:A 4482_3304_1102_E->K 0.00179712 152 chr11:20122488:G:A 4482_3379_1127_A->T 0.0071885 152 chr11:20122549:G:A 4482_3440_1147_R->H 0.000199681 152 chr11:20122617:T:C 4482_3508_1170_Y->H 0.000199681 152 chr11:20122663:G:A 4482_3554_1185_R->Q 0.000199681 152 chr11:20124807:C:T 4482_3616_1206_R->C 0.000599042 152 chr11:20124873:G:A 4482_3682_1228_V->I 0.000199681 152 chr11:20124900:G:A 4482_3709_1237_V->M 0.000399361 152 chr11:20125245:A:G 4482_3811_1271_N->D 0.000199681 152 chr11:20127168:C:T 4482_3928_1310_R->W 0.000199681 152 chr11:20127169:G:A 4482_3929_1310_R->Q 0.000199681 152 chr11:20127171:G:T 4482_3931_1311_V->L 0.000199681 152 chr11:20127264:G:A 4482_4024_1342_V->I 0.000199681 152 chr11:20129241:T:A 4482_4065_1355_D->E 0.000199681 152 chr11:20129311:G:A 4482_4135_1379_V->I 0.0223642 152 chr11:20129317:G:A 4482_4141_1381_E->K 0.000199681 152 chr11:20136153:G:A 4482_4168_1390_A->T 0.000199681 152 chr11:20136295:C:T 4482_4310_1437_S->L 0.000199681 152 chr11:20139734:A:G 4482_4412_1471_Y->C 0.000199681 152 chr11:20139768:T:A 4482_4446_1482_D->E 0.000599042 152 na12878 Variants: 152 chr11:20065779:C:G 4482_418_140_P->A 152 snyder Variants: 152 chr11:20065673:G:T 4482_312_104_E->D 152 chr11:20065779:C:G 4482_418_140_P->A 153 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000377321 gene_Name: MEN1_HUMAN 153 list of pdbs: 153 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 153 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 153 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 153 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 153 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 153 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 153 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 153 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 153 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 153 Zimmer Variants: 153 chr11:64572018:T:C 1728_1516_506_T->A 153 HGMD Variants: 153 chr11:64571907:G:A 1728_1627_543_Q->* 153 chr11:64571924:G:T 1728_1610_537_S->* 153 chr11:64571952:C:A 1728_1582_528_E->* 153 chr11:64571964:T:A 1728_1570_524_K->* 153 chr11:64571973:C:A 1728_1561_521_E->* 153 chr11:64571979:G:A 1728_1555_519_Q->* 153 chr11:64572033:G:A 1728_1501_501_Q->* 153 chr11:64572051:C:A 1728_1483_495_E->* 153 chr11:64572060:G:A 1728_1474_492_R->* 153 chr11:64572117:G:A 1728_1417_473_Q->* 153 chr11:64572210:C:A 1728_1324_442_E->* 153 chr11:64572222:C:A 1728_1312_438_E->* 153 chr11:64572226:C:T 1728_1308_436_W->* 153 chr11:64572227:C:T 1728_1307_436_W->* 153 chr11:64572237:C:A 1728_1297_433_E->* 153 chr11:64572252:C:A 1728_1282_428_E->* 153 chr11:64572261:G:A 1728_1273_425_R->* 153 chr11:64572282:G:A 1728_1252_418_Q->* 153 chr11:64572508:G:A 1728_1243_415_Q->* 153 chr11:64572532:G:A 1728_1219_407_Q->* 153 chr11:64572548:C:T 1728_1203_401_W->* 153 chr11:64572549:C:T 1728_1202_401_W->* 153 chr11:64572583:C:A 1728_1168_390_E->* 153 chr11:64572587:C:T 1728_1164_388_W->* 153 chr11:64572588:C:T 1728_1163_388_W->* 153 chr11:64572605:G:C 1728_1146_382_Y->* 153 chr11:64572605:G:T 1728_1146_382_Y->* 153 chr11:64572613:G:A 1728_1138_380_R->* 153 chr11:64572629:G:T 1728_1122_374_C->* 153 chr11:64572643:G:A 1728_1108_370_Q->* 153 chr11:64572664:G:A 1728_1087_363_Q->* 153 chr11:64573109:G:A 1728_1078_360_Q->* 153 chr11:64573115:G:A 1728_1072_358_Q->* 153 chr11:64573118:C:A 1728_1069_357_E->* 153 chr11:64573130:C:A 1728_1057_353_E->* 153 chr11:64573142:C:A 1728_1045_349_E->* 153 chr11:64573196:C:A 1728_991_331_E->* 153 chr11:64573208:T:A 1728_979_327_K->* 153 chr11:64573220:C:A 1728_967_323_E->* 153 chr11:64573230:G:T 1728_957_319_C->* 153 chr11:64573233:G:T 1728_954_318_Y->* 153 chr11:64573239:G:C 1728_948_316_Y->* 153 chr11:64573708:G:A 1728_940_314_Q->* 153 chr11:64573730:C:T 1728_918_306_W->* 153 chr11:64573731:C:T 1728_917_306_W->* 153 chr11:64573738:G:A 1728_910_304_Q->* 153 chr11:64573784:G:T 1728_864_288_Y->* 153 chr11:64573784:G:C 1728_864_288_Y->* 153 chr11:64573807:C:A 1728_841_281_E->* 153 chr11:64573814:A:C 1728_834_278_Y->* 153 chr11:64573817:G:T 1728_831_277_Y->* 153 chr11:64573817:G:C 1728_831_277_Y->* 153 chr11:64573830:G:T 1728_818_273_S->* 153 chr11:64573830:G:C 1728_818_273_S->* 153 chr11:64574567:G:T 1728_723_241_Y->* 153 chr11:64574664:C:A 1728_706_236_G->* 153 chr11:64574671:A:C 1728_699_233_Y->* 153 chr11:64574671:A:T 1728_699_233_Y->* 153 chr11:64574680:C:T 1728_690_230_W->* 153 chr11:64574681:C:T 1728_689_230_W->* 153 chr11:64574691:T:A 1728_679_227_K->* 153 chr11:64575026:G:A 1728_676_226_Q->* 153 chr11:64575029:G:A 1728_673_225_Q->* 153 chr11:64575035:G:A 1728_667_223_Q->* 153 chr11:64575049:G:T 1728_653_218_S->* 153 chr11:64575126:G:T 1728_576_192_Y->* 153 chr11:64575126:G:C 1728_576_192_Y->* 153 chr11:64575130:G:C 1728_572_191_S->* 153 chr11:64575137:T:A 1728_565_189_K->* 153 chr11:64575147:C:T 1728_555_185_W->* 153 chr11:64575148:C:T 1728_554_185_W->* 153 chr11:64575468:C:T 1728_549_183_W->* 153 chr11:64575469:C:T 1728_548_183_W->* 153 chr11:64575521:G:A 1728_496_166_Q->* 153 chr11:64575562:A:T 1728_455_152_L->* 153 chr11:64577161:G:A 1728_421_141_Q->* 153 chr11:64577183:G:C 1728_399_133_Y->* 153 chr11:64577204:C:T 1728_378_126_W->* 153 chr11:64577205:C:T 1728_377_126_W->* 153 chr11:64577224:T:A 1728_358_120_K->* 153 chr11:64577227:T:A 1728_355_119_K->* 153 chr11:64577236:C:A 1728_346_116_E->* 153 chr11:64577260:G:A 1728_322_108_R->* 153 chr11:64577290:G:A 1728_292_98_R->* 153 chr11:64577296:G:A 1728_286_96_Q->* 153 chr11:64577351:G:C 1728_231_77_Y->* 153 chr11:64577351:G:T 1728_231_77_Y->* 153 chr11:64577392:G:A 1728_190_64_Q->* 153 chr11:64577449:C:A 1728_133_45_E->* 153 chr11:64577494:C:A 1728_88_30_E->* 153 chr11:64577497:G:A 1728_85_29_R->* 153 chr11:64577506:C:A 1728_76_26_E->* 153 chr11:64577563:G:A 1728_19_7_Q->* 153 chr11:64571892:A:G 1728_1642_548_S->P 153 chr11:64571903:A:G 1728_1631_544_L->P 153 chr11:64571915:A:T 1728_1619_540_I->N 153 chr11:64571966:A:T 1728_1568_523_M->K 153 chr11:64571970:T:C 1728_1564_522_K->E 153 chr11:64571975:C:T 1728_1559_520_S->N 153 chr11:64571976:T:G 1728_1558_520_S->R 153 chr11:64571991:C:G 1728_1543_515_V->L 153 chr11:64572009:G:A 1728_1525_509_P->S 153 chr11:64572018:T:C 1728_1516_506_T->A 153 chr11:64572021:G:A 1728_1513_505_P->S 153 chr11:64572045:C:A 1728_1489_497_G->C 153 chr11:64572093:G:C 1728_1441_481_R->G 153 chr11:64572117:G:T 1728_1417_473_Q->K 153 chr11:64572131:C:T 1728_1403_468_G->D 153 chr11:64572226:C:A 1728_1308_436_W->C 153 chr11:64572516:A:G 1728_1235_412_F->S 153 chr11:64572517:A:G 1728_1234_412_F->L 153 chr11:64572525:A:G 1728_1226_409_L->P 153 chr11:64572528:G:T 1728_1223_408_S->Y 153 chr11:64572548:C:A 1728_1203_401_W->C 153 chr11:64572550:A:G 1728_1201_401_W->R 153 chr11:64572575:A:T 1728_1176_392_S->R 153 chr11:64572576:C:A 1728_1175_392_S->I 153 chr11:64572588:C:G 1728_1163_388_W->S 153 chr11:64572589:A:G 1728_1162_388_W->R 153 chr11:64572594:C:T 1728_1157_386_C->Y 153 chr11:64572597:A:T 1728_1154_385_I->N 153 chr11:64572604:C:T 1728_1147_383_D->N 153 chr11:64572604:C:G 1728_1147_383_D->H 153 chr11:64572612:C:G 1728_1139_380_R->P 153 chr11:64572615:A:T 1728_1136_379_L->Q 153 chr11:64572615:A:G 1728_1136_379_L->P 153 chr11:64572618:A:G 1728_1133_378_L->P 153 chr11:64572618:A:C 1728_1133_378_L->R 153 chr11:64572625:C:G 1728_1126_376_A->P 153 chr11:64573138:G:A 1728_1049_350_A->V 153 chr11:64573165:A:G 1728_1022_341_L->P 153 chr11:64573168:A:G 1728_1019_340_L->P 153 chr11:64573174:G:A 1728_1013_338_P->L 153 chr11:64573175:G:A 1728_1012_338_P->S 153 chr11:64573176:G:C 1728_1011_337_I->M 153 chr11:64573189:G:T 1728_998_333_A->D 153 chr11:64573194:T:A 1728_993_331_E->D 153 chr11:64573201:A:C 1728_986_329_F->C 153 chr11:64573223:C:G 1728_964_322_D->H 153 chr11:64573229:G:A 1728_958_320_R->W 153 chr11:64573235:A:C 1728_952_318_Y->D 153 chr11:64573241:A:T 1728_946_316_Y->N 153 chr11:64573241:A:G 1728_946_316_Y->H 153 chr11:64573704:T:A 1728_944_315_D->V 153 chr11:64573710:A:T 1728_938_313_I->N 153 chr11:64573722:G:C 1728_926_309_T->R 153 chr11:64573729:C:G 1728_919_307_A->P 153 chr11:64573732:A:T 1728_916_306_W->R 153 chr11:64573732:A:G 1728_916_306_W->R 153 chr11:64573740:A:G 1728_908_303_L->P 153 chr11:64573743:G:T 1728_905_302_A->D 153 chr11:64573744:C:G 1728_904_302_A->P 153 chr11:64573780:C:G 1728_868_290_A->P 153 chr11:64573794:G:C 1728_854_285_P->R 153 chr11:64573794:G:A 1728_854_285_P->L 153 chr11:64573803:T:C 1728_845_282_H->R 153 chr11:64573804:G:A 1728_844_282_H->Y 153 chr11:64573810:C:A 1728_838_280_D->Y 153 chr11:64573812:C:G 1728_836_279_R->P 153 chr11:64573822:T:G 1728_826_276_T->P 153 chr11:64573828:C:G 1728_820_274_A->P 153 chr11:64573839:C:T 1728_809_270_G->D 153 chr11:64573840:C:G 1728_808_270_G->R 153 chr11:64574493:A:C 1728_797_266_L->R 153 chr11:64574538:A:G 1728_752_251_L->P 153 chr11:64574544:G:T 1728_746_249_A->E 153 chr11:64574554:C:T 1728_736_246_G->R 153 chr11:64574554:C:G 1728_736_246_G->R 153 chr11:64574565:G:T 1728_725_242_P->H 153 chr11:64574651:C:T 1728_719_240_R->K 153 chr11:64574651:C:A 1728_719_240_R->M 153 chr11:64574654:T:G 1728_716_239_E->A 153 chr11:64574675:A:G 1728_695_232_L->P 153 chr11:64574684:A:G 1728_686_229_L->P 153 chr11:64575028:T:G 1728_674_225_Q->P 153 chr11:64575031:A:C 1728_671_224_L->R 153 chr11:64575031:A:G 1728_671_224_L->P 153 chr11:64575041:G:A 1728_661_221_L->F 153 chr11:64575044:C:T 1728_658_220_E->K 153 chr11:64575049:G:C 1728_653_218_S->W 153 chr11:64575049:G:A 1728_653_218_S->L 153 chr11:64575050:A:G 1728_652_218_S->P 153 chr11:64575082:G:A 1728_620_207_A->V 153 chr11:64575085:C:A 1728_617_206_C->F 153 chr11:64575085:C:T 1728_617_206_C->Y 153 chr11:64575086:A:G 1728_616_206_C->R 153 chr11:64575104:C:T 1728_598_200_E->K 153 chr11:64575116:C:G 1728_586_196_D->H 153 chr11:64575121:C:T 1728_581_194_R->H 153 chr11:64575121:C:A 1728_581_194_R->L 153 chr11:64575131:A:G 1728_571_191_S->P 153 chr11:64575134:C:T 1728_568_190_G->R 153 chr11:64575139:A:G 1728_563_188_L->P 153 chr11:64575148:C:A 1728_554_185_W->L 153 chr11:64575148:C:G 1728_554_185_W->S 153 chr11:64575468:C:G 1728_549_183_W->C 153 chr11:64575469:C:G 1728_548_183_W->S 153 chr11:64575470:A:G 1728_547_183_W->R 153 chr11:64575475:T:C 1728_542_181_H->R 153 chr11:64575478:T:G 1728_539_180_D->A 153 chr11:64575480:C:A 1728_537_179_E->D 153 chr11:64575482:C:T 1728_535_179_E->K 153 chr11:64575482:C:G 1728_535_179_E->Q 153 chr11:64575487:A:G 1728_530_177_L->P 153 chr11:64575491:C:G 1728_526_176_A->P 153 chr11:64575493:A:C 1728_524_175_L->R 153 chr11:64575503:C:A 1728_514_172_D->Y 153 chr11:64575505:C:T 1728_512_171_R->Q 153 chr11:64575506:G:A 1728_511_171_R->W 153 chr11:64575514:A:G 1728_503_168_L->P 153 chr11:64575523:C:T 1728_494_165_C->Y 153 chr11:64575524:A:G 1728_493_165_C->R 153 chr11:64575526:G:T 1728_491_164_A->D 153 chr11:64575533:C:A 1728_484_162_V->F 153 chr11:64575539:C:T 1728_478_160_A->T 153 chr11:64575539:C:G 1728_478_160_A->P 153 chr11:64575544:G:T 1728_473_158_A->D 153 chr11:64575550:C:T 1728_467_156_G->D 153 chr11:64575550:C:A 1728_467_156_G->V 153 chr11:64575551:C:A 1728_466_156_G->C 153 chr11:64575551:C:G 1728_466_156_G->R 153 chr11:64575551:C:T 1728_466_156_G->S 153 chr11:64575553:G:A 1728_464_155_S->F 153 chr11:64575556:C:A 1728_461_154_S->I 153 chr11:64575558:G:C 1728_459_153_D->E 153 chr11:64575559:T:A 1728_458_153_D->V 153 chr11:64575560:C:A 1728_457_153_D->Y 153 chr11:64577140:T:G 1728_442_148_T->P 153 chr11:64577143:T:A 1728_439_147_I->F 153 chr11:64577151:A:C 1728_431_144_F->C 153 chr11:64577152:A:C 1728_430_144_F->V 153 chr11:64577166:T:G 1728_416_139_H->P 153 chr11:64577166:T:C 1728_416_139_H->R 153 chr11:64577167:G:A 1728_415_139_H->Y 153 chr11:64577167:G:C 1728_415_139_H->D 153 chr11:64577235:T:C 1728_347_116_E->G 153 chr11:64577253:C:T 1728_329_110_G->E 153 chr11:64577289:C:A 1728_293_98_R->L 153 chr11:64577310:G:A 1728_272_91_A->V 153 chr11:64577428:G:C 1728_154_52_R->G 153 chr11:64577436:G:A 1728_146_49_A->V 153 chr11:64577447:C:G 1728_135_45_E->D 153 chr11:64577448:T:G 1728_134_45_E->A 153 chr11:64577448:T:C 1728_134_45_E->G 153 chr11:64577448:T:A 1728_134_45_E->V 153 chr11:64577449:C:T 1728_133_45_E->K 153 chr11:64577449:C:G 1728_133_45_E->Q 153 chr11:64577457:C:T 1728_125_42_G->D 153 chr11:64577466:A:C 1728_116_39_L->W 153 chr11:64577470:A:G 1728_112_38_S->P 153 chr11:64577499:C:G 1728_83_28_G->A 153 chr11:64577502:A:G 1728_80_27_L->P 153 chr11:64577506:C:T 1728_76_26_E->K 153 chr11:64577517:A:C 1728_65_22_L->R 153 chr11:64577547:G:A 1728_35_12_P->L 153 chr11:64577581:T:C 1728_1_1_M->V 153 oneKG Variants: 153 chr11:64571991:C:A 1728_1543_515_V->L 0.000199681 153 chr11:64572018:T:C 1728_1516_506_T->A 0.165535 153 chr11:64572099:G:A 1728_1435_479_P->S 0.000199681 153 chr11:64572131:C:T 1728_1403_468_G->D 0.000399361 153 chr11:64573127:G:A 1728_1060_354_R->W 0.000199681 153 chr11:64573194:T:A 1728_993_331_E->D 0.000399361 153 chr11:64575505:C:T 1728_512_171_R->Q 0.0061901 153 chr11:64575517:G:A 1728_500_167_A->V 0.000199681 153 chr11:64577272:A:C 1728_310_104_S->A 0.000199681 153 chr11:64577521:G:T 1728_61_21_R->S 0.000599042 153 na12878 Variants: 153 chr11:64572018:T:C 1728_1516_506_T->A 153 snyder Variants: 153 chr11:64572018:T:C 1728_1516_506_T->A 154 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000377326 gene_Name: MEN1_HUMAN 154 list of pdbs: 154 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 154 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 154 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 154 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 154 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 154 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 154 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 154 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 154 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 154 Zimmer Variants: 154 chr11:64572018:T:C 1833_1621_541_T->A 154 HGMD Variants: 154 chr11:64571907:G:A 1833_1732_578_Q->* 154 chr11:64571924:G:T 1833_1715_572_S->* 154 chr11:64571952:C:A 1833_1687_563_E->* 154 chr11:64571964:T:A 1833_1675_559_K->* 154 chr11:64571973:C:A 1833_1666_556_E->* 154 chr11:64571979:G:A 1833_1660_554_Q->* 154 chr11:64572033:G:A 1833_1606_536_Q->* 154 chr11:64572051:C:A 1833_1588_530_E->* 154 chr11:64572060:G:A 1833_1579_527_R->* 154 chr11:64572117:G:A 1833_1522_508_Q->* 154 chr11:64572210:C:A 1833_1429_477_E->* 154 chr11:64572222:C:A 1833_1417_473_E->* 154 chr11:64572226:C:T 1833_1413_471_W->* 154 chr11:64572227:C:T 1833_1412_471_W->* 154 chr11:64572237:C:A 1833_1402_468_E->* 154 chr11:64572252:C:A 1833_1387_463_E->* 154 chr11:64572261:G:A 1833_1378_460_R->* 154 chr11:64572282:G:A 1833_1357_453_Q->* 154 chr11:64572508:G:A 1833_1348_450_Q->* 154 chr11:64572532:G:A 1833_1324_442_Q->* 154 chr11:64572548:C:T 1833_1308_436_W->* 154 chr11:64572549:C:T 1833_1307_436_W->* 154 chr11:64572583:C:A 1833_1273_425_E->* 154 chr11:64572587:C:T 1833_1269_423_W->* 154 chr11:64572588:C:T 1833_1268_423_W->* 154 chr11:64572605:G:C 1833_1251_417_Y->* 154 chr11:64572605:G:T 1833_1251_417_Y->* 154 chr11:64572613:G:A 1833_1243_415_R->* 154 chr11:64572629:G:T 1833_1227_409_C->* 154 chr11:64572643:G:A 1833_1213_405_Q->* 154 chr11:64572664:G:A 1833_1192_398_Q->* 154 chr11:64573109:G:A 1833_1183_395_Q->* 154 chr11:64573115:G:A 1833_1177_393_Q->* 154 chr11:64573118:C:A 1833_1174_392_E->* 154 chr11:64573130:C:A 1833_1162_388_E->* 154 chr11:64573142:C:A 1833_1150_384_E->* 154 chr11:64573196:C:A 1833_1096_366_E->* 154 chr11:64573208:T:A 1833_1084_362_K->* 154 chr11:64573220:C:A 1833_1072_358_E->* 154 chr11:64573230:G:T 1833_1062_354_C->* 154 chr11:64573233:G:T 1833_1059_353_Y->* 154 chr11:64573239:G:C 1833_1053_351_Y->* 154 chr11:64573708:G:A 1833_1045_349_Q->* 154 chr11:64573730:C:T 1833_1023_341_W->* 154 chr11:64573731:C:T 1833_1022_341_W->* 154 chr11:64573738:G:A 1833_1015_339_Q->* 154 chr11:64573784:G:T 1833_969_323_Y->* 154 chr11:64573784:G:C 1833_969_323_Y->* 154 chr11:64573807:C:A 1833_946_316_E->* 154 chr11:64573814:A:C 1833_939_313_Y->* 154 chr11:64573817:G:T 1833_936_312_Y->* 154 chr11:64573817:G:C 1833_936_312_Y->* 154 chr11:64573830:G:T 1833_923_308_S->* 154 chr11:64573830:G:C 1833_923_308_S->* 154 chr11:64574567:G:T 1833_828_276_Y->* 154 chr11:64574664:C:A 1833_811_271_G->* 154 chr11:64574671:A:C 1833_804_268_Y->* 154 chr11:64574671:A:T 1833_804_268_Y->* 154 chr11:64574680:C:T 1833_795_265_W->* 154 chr11:64574681:C:T 1833_794_265_W->* 154 chr11:64574691:T:A 1833_784_262_K->* 154 chr11:64575026:G:A 1833_781_261_Q->* 154 chr11:64575029:G:A 1833_778_260_Q->* 154 chr11:64575035:G:A 1833_772_258_Q->* 154 chr11:64575049:G:T 1833_758_253_S->* 154 chr11:64575126:G:T 1833_681_227_Y->* 154 chr11:64575126:G:C 1833_681_227_Y->* 154 chr11:64575130:G:C 1833_677_226_S->* 154 chr11:64575137:T:A 1833_670_224_K->* 154 chr11:64575147:C:T 1833_660_220_W->* 154 chr11:64575148:C:T 1833_659_220_W->* 154 chr11:64575392:G:A 1833_625_209_Q->* 154 chr11:64575423:C:T 1833_594_198_W->* 154 chr11:64575424:C:T 1833_593_198_W->* 154 chr11:64575443:G:A 1833_574_192_Q->* 154 chr11:64575446:C:A 1833_571_191_E->* 154 chr11:64575468:C:T 1833_549_183_W->* 154 chr11:64575469:C:T 1833_548_183_W->* 154 chr11:64575521:G:A 1833_496_166_Q->* 154 chr11:64575562:A:T 1833_455_152_L->* 154 chr11:64577161:G:A 1833_421_141_Q->* 154 chr11:64577183:G:C 1833_399_133_Y->* 154 chr11:64577204:C:T 1833_378_126_W->* 154 chr11:64577205:C:T 1833_377_126_W->* 154 chr11:64577224:T:A 1833_358_120_K->* 154 chr11:64577227:T:A 1833_355_119_K->* 154 chr11:64577236:C:A 1833_346_116_E->* 154 chr11:64577260:G:A 1833_322_108_R->* 154 chr11:64577290:G:A 1833_292_98_R->* 154 chr11:64577296:G:A 1833_286_96_Q->* 154 chr11:64577351:G:C 1833_231_77_Y->* 154 chr11:64577351:G:T 1833_231_77_Y->* 154 chr11:64577392:G:A 1833_190_64_Q->* 154 chr11:64577449:C:A 1833_133_45_E->* 154 chr11:64577494:C:A 1833_88_30_E->* 154 chr11:64577497:G:A 1833_85_29_R->* 154 chr11:64577506:C:A 1833_76_26_E->* 154 chr11:64577563:G:A 1833_19_7_Q->* 154 chr11:64571892:A:G 1833_1747_583_S->P 154 chr11:64571903:A:G 1833_1736_579_L->P 154 chr11:64571915:A:T 1833_1724_575_I->N 154 chr11:64571966:A:T 1833_1673_558_M->K 154 chr11:64571970:T:C 1833_1669_557_K->E 154 chr11:64571975:C:T 1833_1664_555_S->N 154 chr11:64571976:T:G 1833_1663_555_S->R 154 chr11:64571991:C:G 1833_1648_550_V->L 154 chr11:64572009:G:A 1833_1630_544_P->S 154 chr11:64572018:T:C 1833_1621_541_T->A 154 chr11:64572021:G:A 1833_1618_540_P->S 154 chr11:64572045:C:A 1833_1594_532_G->C 154 chr11:64572093:G:C 1833_1546_516_R->G 154 chr11:64572117:G:T 1833_1522_508_Q->K 154 chr11:64572131:C:T 1833_1508_503_G->D 154 chr11:64572226:C:A 1833_1413_471_W->C 154 chr11:64572516:A:G 1833_1340_447_F->S 154 chr11:64572517:A:G 1833_1339_447_F->L 154 chr11:64572525:A:G 1833_1331_444_L->P 154 chr11:64572528:G:T 1833_1328_443_S->Y 154 chr11:64572548:C:A 1833_1308_436_W->C 154 chr11:64572550:A:G 1833_1306_436_W->R 154 chr11:64572575:A:T 1833_1281_427_S->R 154 chr11:64572576:C:A 1833_1280_427_S->I 154 chr11:64572588:C:G 1833_1268_423_W->S 154 chr11:64572589:A:G 1833_1267_423_W->R 154 chr11:64572594:C:T 1833_1262_421_C->Y 154 chr11:64572597:A:T 1833_1259_420_I->N 154 chr11:64572604:C:T 1833_1252_418_D->N 154 chr11:64572604:C:G 1833_1252_418_D->H 154 chr11:64572612:C:G 1833_1244_415_R->P 154 chr11:64572615:A:T 1833_1241_414_L->Q 154 chr11:64572615:A:G 1833_1241_414_L->P 154 chr11:64572618:A:G 1833_1238_413_L->P 154 chr11:64572618:A:C 1833_1238_413_L->R 154 chr11:64572625:C:G 1833_1231_411_A->P 154 chr11:64573138:G:A 1833_1154_385_A->V 154 chr11:64573165:A:G 1833_1127_376_L->P 154 chr11:64573168:A:G 1833_1124_375_L->P 154 chr11:64573174:G:A 1833_1118_373_P->L 154 chr11:64573175:G:A 1833_1117_373_P->S 154 chr11:64573176:G:C 1833_1116_372_I->M 154 chr11:64573189:G:T 1833_1103_368_A->D 154 chr11:64573194:T:A 1833_1098_366_E->D 154 chr11:64573201:A:C 1833_1091_364_F->C 154 chr11:64573223:C:G 1833_1069_357_D->H 154 chr11:64573229:G:A 1833_1063_355_R->W 154 chr11:64573235:A:C 1833_1057_353_Y->D 154 chr11:64573241:A:T 1833_1051_351_Y->N 154 chr11:64573241:A:G 1833_1051_351_Y->H 154 chr11:64573704:T:A 1833_1049_350_D->V 154 chr11:64573710:A:T 1833_1043_348_I->N 154 chr11:64573722:G:C 1833_1031_344_T->R 154 chr11:64573729:C:G 1833_1024_342_A->P 154 chr11:64573732:A:T 1833_1021_341_W->R 154 chr11:64573732:A:G 1833_1021_341_W->R 154 chr11:64573740:A:G 1833_1013_338_L->P 154 chr11:64573743:G:T 1833_1010_337_A->D 154 chr11:64573744:C:G 1833_1009_337_A->P 154 chr11:64573780:C:G 1833_973_325_A->P 154 chr11:64573794:G:C 1833_959_320_P->R 154 chr11:64573794:G:A 1833_959_320_P->L 154 chr11:64573803:T:C 1833_950_317_H->R 154 chr11:64573804:G:A 1833_949_317_H->Y 154 chr11:64573810:C:A 1833_943_315_D->Y 154 chr11:64573812:C:G 1833_941_314_R->P 154 chr11:64573822:T:G 1833_931_311_T->P 154 chr11:64573828:C:G 1833_925_309_A->P 154 chr11:64573839:C:T 1833_914_305_G->D 154 chr11:64573840:C:G 1833_913_305_G->R 154 chr11:64574493:A:C 1833_902_301_L->R 154 chr11:64574538:A:G 1833_857_286_L->P 154 chr11:64574544:G:T 1833_851_284_A->E 154 chr11:64574554:C:T 1833_841_281_G->R 154 chr11:64574554:C:G 1833_841_281_G->R 154 chr11:64574565:G:T 1833_830_277_P->H 154 chr11:64574651:C:T 1833_824_275_R->K 154 chr11:64574651:C:A 1833_824_275_R->M 154 chr11:64574654:T:G 1833_821_274_E->A 154 chr11:64574675:A:G 1833_800_267_L->P 154 chr11:64574684:A:G 1833_791_264_L->P 154 chr11:64575028:T:G 1833_779_260_Q->P 154 chr11:64575031:A:C 1833_776_259_L->R 154 chr11:64575031:A:G 1833_776_259_L->P 154 chr11:64575041:G:A 1833_766_256_L->F 154 chr11:64575044:C:T 1833_763_255_E->K 154 chr11:64575049:G:C 1833_758_253_S->W 154 chr11:64575049:G:A 1833_758_253_S->L 154 chr11:64575050:A:G 1833_757_253_S->P 154 chr11:64575082:G:A 1833_725_242_A->V 154 chr11:64575085:C:A 1833_722_241_C->F 154 chr11:64575085:C:T 1833_722_241_C->Y 154 chr11:64575086:A:G 1833_721_241_C->R 154 chr11:64575104:C:T 1833_703_235_E->K 154 chr11:64575116:C:G 1833_691_231_D->H 154 chr11:64575121:C:T 1833_686_229_R->H 154 chr11:64575121:C:A 1833_686_229_R->L 154 chr11:64575131:A:G 1833_676_226_S->P 154 chr11:64575134:C:T 1833_673_225_G->R 154 chr11:64575139:A:G 1833_668_223_L->P 154 chr11:64575148:C:A 1833_659_220_W->L 154 chr11:64575148:C:G 1833_659_220_W->S 154 chr11:64575374:C:T 1833_643_215_V->M 154 chr11:64575427:G:A 1833_590_197_T->I 154 chr11:64575433:T:C 1833_584_195_E->G 154 chr11:64575439:G:A 1833_578_193_T->I 154 chr11:64575454:G:A 1833_563_188_P->L 154 chr11:64575466:A:T 1833_551_184_V->E 154 chr11:64575468:C:G 1833_549_183_W->C 154 chr11:64575469:C:G 1833_548_183_W->S 154 chr11:64575470:A:G 1833_547_183_W->R 154 chr11:64575475:T:C 1833_542_181_H->R 154 chr11:64575478:T:G 1833_539_180_D->A 154 chr11:64575480:C:A 1833_537_179_E->D 154 chr11:64575482:C:T 1833_535_179_E->K 154 chr11:64575482:C:G 1833_535_179_E->Q 154 chr11:64575487:A:G 1833_530_177_L->P 154 chr11:64575491:C:G 1833_526_176_A->P 154 chr11:64575493:A:C 1833_524_175_L->R 154 chr11:64575503:C:A 1833_514_172_D->Y 154 chr11:64575505:C:T 1833_512_171_R->Q 154 chr11:64575506:G:A 1833_511_171_R->W 154 chr11:64575514:A:G 1833_503_168_L->P 154 chr11:64575523:C:T 1833_494_165_C->Y 154 chr11:64575524:A:G 1833_493_165_C->R 154 chr11:64575526:G:T 1833_491_164_A->D 154 chr11:64575533:C:A 1833_484_162_V->F 154 chr11:64575539:C:T 1833_478_160_A->T 154 chr11:64575539:C:G 1833_478_160_A->P 154 chr11:64575544:G:T 1833_473_158_A->D 154 chr11:64575550:C:T 1833_467_156_G->D 154 chr11:64575550:C:A 1833_467_156_G->V 154 chr11:64575551:C:A 1833_466_156_G->C 154 chr11:64575551:C:G 1833_466_156_G->R 154 chr11:64575551:C:T 1833_466_156_G->S 154 chr11:64575553:G:A 1833_464_155_S->F 154 chr11:64575556:C:A 1833_461_154_S->I 154 chr11:64575558:G:C 1833_459_153_D->E 154 chr11:64575559:T:A 1833_458_153_D->V 154 chr11:64575560:C:A 1833_457_153_D->Y 154 chr11:64577140:T:G 1833_442_148_T->P 154 chr11:64577143:T:A 1833_439_147_I->F 154 chr11:64577151:A:C 1833_431_144_F->C 154 chr11:64577152:A:C 1833_430_144_F->V 154 chr11:64577166:T:G 1833_416_139_H->P 154 chr11:64577166:T:C 1833_416_139_H->R 154 chr11:64577167:G:A 1833_415_139_H->Y 154 chr11:64577167:G:C 1833_415_139_H->D 154 chr11:64577235:T:C 1833_347_116_E->G 154 chr11:64577253:C:T 1833_329_110_G->E 154 chr11:64577289:C:A 1833_293_98_R->L 154 chr11:64577310:G:A 1833_272_91_A->V 154 chr11:64577428:G:C 1833_154_52_R->G 154 chr11:64577436:G:A 1833_146_49_A->V 154 chr11:64577447:C:G 1833_135_45_E->D 154 chr11:64577448:T:G 1833_134_45_E->A 154 chr11:64577448:T:C 1833_134_45_E->G 154 chr11:64577448:T:A 1833_134_45_E->V 154 chr11:64577449:C:T 1833_133_45_E->K 154 chr11:64577449:C:G 1833_133_45_E->Q 154 chr11:64577457:C:T 1833_125_42_G->D 154 chr11:64577466:A:C 1833_116_39_L->W 154 chr11:64577470:A:G 1833_112_38_S->P 154 chr11:64577499:C:G 1833_83_28_G->A 154 chr11:64577502:A:G 1833_80_27_L->P 154 chr11:64577506:C:T 1833_76_26_E->K 154 chr11:64577517:A:C 1833_65_22_L->R 154 chr11:64577547:G:A 1833_35_12_P->L 154 chr11:64577581:T:C 1833_1_1_M->V 154 oneKG Variants: 154 chr11:64571991:C:A 1833_1648_550_V->L 0.000199681 154 chr11:64572018:T:C 1833_1621_541_T->A 0.165535 154 chr11:64572099:G:A 1833_1540_514_P->S 0.000199681 154 chr11:64572131:C:T 1833_1508_503_G->D 0.000399361 154 chr11:64573127:G:A 1833_1165_389_R->W 0.000199681 154 chr11:64573194:T:A 1833_1098_366_E->D 0.000399361 154 chr11:64575505:C:T 1833_512_171_R->Q 0.0061901 154 chr11:64575517:G:A 1833_500_167_A->V 0.000199681 154 chr11:64577272:A:C 1833_310_104_S->A 0.000199681 154 chr11:64577521:G:T 1833_61_21_R->S 0.000599042 154 na12878 Variants: 154 chr11:64572018:T:C 1833_1621_541_T->A 154 snyder Variants: 154 chr11:64572018:T:C 1833_1621_541_T->A 155 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000312049 gene_Name: MEN1_HUMAN 155 list of pdbs: 155 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 155 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 155 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 155 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 155 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 155 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 155 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 155 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 155 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 155 Zimmer Variants: 155 chr11:64572018:T:C 1833_1621_541_T->A 155 HGMD Variants: 155 chr11:64571907:G:A 1833_1732_578_Q->* 155 chr11:64571924:G:T 1833_1715_572_S->* 155 chr11:64571952:C:A 1833_1687_563_E->* 155 chr11:64571964:T:A 1833_1675_559_K->* 155 chr11:64571973:C:A 1833_1666_556_E->* 155 chr11:64571979:G:A 1833_1660_554_Q->* 155 chr11:64572033:G:A 1833_1606_536_Q->* 155 chr11:64572051:C:A 1833_1588_530_E->* 155 chr11:64572060:G:A 1833_1579_527_R->* 155 chr11:64572117:G:A 1833_1522_508_Q->* 155 chr11:64572210:C:A 1833_1429_477_E->* 155 chr11:64572222:C:A 1833_1417_473_E->* 155 chr11:64572226:C:T 1833_1413_471_W->* 155 chr11:64572227:C:T 1833_1412_471_W->* 155 chr11:64572237:C:A 1833_1402_468_E->* 155 chr11:64572252:C:A 1833_1387_463_E->* 155 chr11:64572261:G:A 1833_1378_460_R->* 155 chr11:64572282:G:A 1833_1357_453_Q->* 155 chr11:64572508:G:A 1833_1348_450_Q->* 155 chr11:64572532:G:A 1833_1324_442_Q->* 155 chr11:64572548:C:T 1833_1308_436_W->* 155 chr11:64572549:C:T 1833_1307_436_W->* 155 chr11:64572583:C:A 1833_1273_425_E->* 155 chr11:64572587:C:T 1833_1269_423_W->* 155 chr11:64572588:C:T 1833_1268_423_W->* 155 chr11:64572605:G:C 1833_1251_417_Y->* 155 chr11:64572605:G:T 1833_1251_417_Y->* 155 chr11:64572613:G:A 1833_1243_415_R->* 155 chr11:64572629:G:T 1833_1227_409_C->* 155 chr11:64572643:G:A 1833_1213_405_Q->* 155 chr11:64572664:G:A 1833_1192_398_Q->* 155 chr11:64573109:G:A 1833_1183_395_Q->* 155 chr11:64573115:G:A 1833_1177_393_Q->* 155 chr11:64573118:C:A 1833_1174_392_E->* 155 chr11:64573130:C:A 1833_1162_388_E->* 155 chr11:64573142:C:A 1833_1150_384_E->* 155 chr11:64573196:C:A 1833_1096_366_E->* 155 chr11:64573208:T:A 1833_1084_362_K->* 155 chr11:64573220:C:A 1833_1072_358_E->* 155 chr11:64573230:G:T 1833_1062_354_C->* 155 chr11:64573233:G:T 1833_1059_353_Y->* 155 chr11:64573239:G:C 1833_1053_351_Y->* 155 chr11:64573708:G:A 1833_1045_349_Q->* 155 chr11:64573730:C:T 1833_1023_341_W->* 155 chr11:64573731:C:T 1833_1022_341_W->* 155 chr11:64573738:G:A 1833_1015_339_Q->* 155 chr11:64573784:G:T 1833_969_323_Y->* 155 chr11:64573784:G:C 1833_969_323_Y->* 155 chr11:64573807:C:A 1833_946_316_E->* 155 chr11:64573814:A:C 1833_939_313_Y->* 155 chr11:64573817:G:T 1833_936_312_Y->* 155 chr11:64573817:G:C 1833_936_312_Y->* 155 chr11:64573830:G:T 1833_923_308_S->* 155 chr11:64573830:G:C 1833_923_308_S->* 155 chr11:64574567:G:T 1833_828_276_Y->* 155 chr11:64574664:C:A 1833_811_271_G->* 155 chr11:64574671:A:C 1833_804_268_Y->* 155 chr11:64574671:A:T 1833_804_268_Y->* 155 chr11:64574680:C:T 1833_795_265_W->* 155 chr11:64574681:C:T 1833_794_265_W->* 155 chr11:64574691:T:A 1833_784_262_K->* 155 chr11:64575026:G:A 1833_781_261_Q->* 155 chr11:64575029:G:A 1833_778_260_Q->* 155 chr11:64575035:G:A 1833_772_258_Q->* 155 chr11:64575049:G:T 1833_758_253_S->* 155 chr11:64575126:G:T 1833_681_227_Y->* 155 chr11:64575126:G:C 1833_681_227_Y->* 155 chr11:64575130:G:C 1833_677_226_S->* 155 chr11:64575137:T:A 1833_670_224_K->* 155 chr11:64575147:C:T 1833_660_220_W->* 155 chr11:64575148:C:T 1833_659_220_W->* 155 chr11:64575392:G:A 1833_625_209_Q->* 155 chr11:64575423:C:T 1833_594_198_W->* 155 chr11:64575424:C:T 1833_593_198_W->* 155 chr11:64575443:G:A 1833_574_192_Q->* 155 chr11:64575446:C:A 1833_571_191_E->* 155 chr11:64575468:C:T 1833_549_183_W->* 155 chr11:64575469:C:T 1833_548_183_W->* 155 chr11:64575521:G:A 1833_496_166_Q->* 155 chr11:64575562:A:T 1833_455_152_L->* 155 chr11:64577161:G:A 1833_421_141_Q->* 155 chr11:64577183:G:C 1833_399_133_Y->* 155 chr11:64577204:C:T 1833_378_126_W->* 155 chr11:64577205:C:T 1833_377_126_W->* 155 chr11:64577224:T:A 1833_358_120_K->* 155 chr11:64577227:T:A 1833_355_119_K->* 155 chr11:64577236:C:A 1833_346_116_E->* 155 chr11:64577260:G:A 1833_322_108_R->* 155 chr11:64577290:G:A 1833_292_98_R->* 155 chr11:64577296:G:A 1833_286_96_Q->* 155 chr11:64577351:G:C 1833_231_77_Y->* 155 chr11:64577351:G:T 1833_231_77_Y->* 155 chr11:64577392:G:A 1833_190_64_Q->* 155 chr11:64577449:C:A 1833_133_45_E->* 155 chr11:64577494:C:A 1833_88_30_E->* 155 chr11:64577497:G:A 1833_85_29_R->* 155 chr11:64577506:C:A 1833_76_26_E->* 155 chr11:64577563:G:A 1833_19_7_Q->* 155 chr11:64571892:A:G 1833_1747_583_S->P 155 chr11:64571903:A:G 1833_1736_579_L->P 155 chr11:64571915:A:T 1833_1724_575_I->N 155 chr11:64571966:A:T 1833_1673_558_M->K 155 chr11:64571970:T:C 1833_1669_557_K->E 155 chr11:64571975:C:T 1833_1664_555_S->N 155 chr11:64571976:T:G 1833_1663_555_S->R 155 chr11:64571991:C:G 1833_1648_550_V->L 155 chr11:64572009:G:A 1833_1630_544_P->S 155 chr11:64572018:T:C 1833_1621_541_T->A 155 chr11:64572021:G:A 1833_1618_540_P->S 155 chr11:64572045:C:A 1833_1594_532_G->C 155 chr11:64572093:G:C 1833_1546_516_R->G 155 chr11:64572117:G:T 1833_1522_508_Q->K 155 chr11:64572131:C:T 1833_1508_503_G->D 155 chr11:64572226:C:A 1833_1413_471_W->C 155 chr11:64572516:A:G 1833_1340_447_F->S 155 chr11:64572517:A:G 1833_1339_447_F->L 155 chr11:64572525:A:G 1833_1331_444_L->P 155 chr11:64572528:G:T 1833_1328_443_S->Y 155 chr11:64572548:C:A 1833_1308_436_W->C 155 chr11:64572550:A:G 1833_1306_436_W->R 155 chr11:64572575:A:T 1833_1281_427_S->R 155 chr11:64572576:C:A 1833_1280_427_S->I 155 chr11:64572588:C:G 1833_1268_423_W->S 155 chr11:64572589:A:G 1833_1267_423_W->R 155 chr11:64572594:C:T 1833_1262_421_C->Y 155 chr11:64572597:A:T 1833_1259_420_I->N 155 chr11:64572604:C:T 1833_1252_418_D->N 155 chr11:64572604:C:G 1833_1252_418_D->H 155 chr11:64572612:C:G 1833_1244_415_R->P 155 chr11:64572615:A:T 1833_1241_414_L->Q 155 chr11:64572615:A:G 1833_1241_414_L->P 155 chr11:64572618:A:G 1833_1238_413_L->P 155 chr11:64572618:A:C 1833_1238_413_L->R 155 chr11:64572625:C:G 1833_1231_411_A->P 155 chr11:64573138:G:A 1833_1154_385_A->V 155 chr11:64573165:A:G 1833_1127_376_L->P 155 chr11:64573168:A:G 1833_1124_375_L->P 155 chr11:64573174:G:A 1833_1118_373_P->L 155 chr11:64573175:G:A 1833_1117_373_P->S 155 chr11:64573176:G:C 1833_1116_372_I->M 155 chr11:64573189:G:T 1833_1103_368_A->D 155 chr11:64573194:T:A 1833_1098_366_E->D 155 chr11:64573201:A:C 1833_1091_364_F->C 155 chr11:64573223:C:G 1833_1069_357_D->H 155 chr11:64573229:G:A 1833_1063_355_R->W 155 chr11:64573235:A:C 1833_1057_353_Y->D 155 chr11:64573241:A:T 1833_1051_351_Y->N 155 chr11:64573241:A:G 1833_1051_351_Y->H 155 chr11:64573704:T:A 1833_1049_350_D->V 155 chr11:64573710:A:T 1833_1043_348_I->N 155 chr11:64573722:G:C 1833_1031_344_T->R 155 chr11:64573729:C:G 1833_1024_342_A->P 155 chr11:64573732:A:T 1833_1021_341_W->R 155 chr11:64573732:A:G 1833_1021_341_W->R 155 chr11:64573740:A:G 1833_1013_338_L->P 155 chr11:64573743:G:T 1833_1010_337_A->D 155 chr11:64573744:C:G 1833_1009_337_A->P 155 chr11:64573780:C:G 1833_973_325_A->P 155 chr11:64573794:G:C 1833_959_320_P->R 155 chr11:64573794:G:A 1833_959_320_P->L 155 chr11:64573803:T:C 1833_950_317_H->R 155 chr11:64573804:G:A 1833_949_317_H->Y 155 chr11:64573810:C:A 1833_943_315_D->Y 155 chr11:64573812:C:G 1833_941_314_R->P 155 chr11:64573822:T:G 1833_931_311_T->P 155 chr11:64573828:C:G 1833_925_309_A->P 155 chr11:64573839:C:T 1833_914_305_G->D 155 chr11:64573840:C:G 1833_913_305_G->R 155 chr11:64574493:A:C 1833_902_301_L->R 155 chr11:64574538:A:G 1833_857_286_L->P 155 chr11:64574544:G:T 1833_851_284_A->E 155 chr11:64574554:C:T 1833_841_281_G->R 155 chr11:64574554:C:G 1833_841_281_G->R 155 chr11:64574565:G:T 1833_830_277_P->H 155 chr11:64574651:C:T 1833_824_275_R->K 155 chr11:64574651:C:A 1833_824_275_R->M 155 chr11:64574654:T:G 1833_821_274_E->A 155 chr11:64574675:A:G 1833_800_267_L->P 155 chr11:64574684:A:G 1833_791_264_L->P 155 chr11:64575028:T:G 1833_779_260_Q->P 155 chr11:64575031:A:C 1833_776_259_L->R 155 chr11:64575031:A:G 1833_776_259_L->P 155 chr11:64575041:G:A 1833_766_256_L->F 155 chr11:64575044:C:T 1833_763_255_E->K 155 chr11:64575049:G:C 1833_758_253_S->W 155 chr11:64575049:G:A 1833_758_253_S->L 155 chr11:64575050:A:G 1833_757_253_S->P 155 chr11:64575082:G:A 1833_725_242_A->V 155 chr11:64575085:C:A 1833_722_241_C->F 155 chr11:64575085:C:T 1833_722_241_C->Y 155 chr11:64575086:A:G 1833_721_241_C->R 155 chr11:64575104:C:T 1833_703_235_E->K 155 chr11:64575116:C:G 1833_691_231_D->H 155 chr11:64575121:C:T 1833_686_229_R->H 155 chr11:64575121:C:A 1833_686_229_R->L 155 chr11:64575131:A:G 1833_676_226_S->P 155 chr11:64575134:C:T 1833_673_225_G->R 155 chr11:64575139:A:G 1833_668_223_L->P 155 chr11:64575148:C:A 1833_659_220_W->L 155 chr11:64575148:C:G 1833_659_220_W->S 155 chr11:64575374:C:T 1833_643_215_V->M 155 chr11:64575427:G:A 1833_590_197_T->I 155 chr11:64575433:T:C 1833_584_195_E->G 155 chr11:64575439:G:A 1833_578_193_T->I 155 chr11:64575454:G:A 1833_563_188_P->L 155 chr11:64575466:A:T 1833_551_184_V->E 155 chr11:64575468:C:G 1833_549_183_W->C 155 chr11:64575469:C:G 1833_548_183_W->S 155 chr11:64575470:A:G 1833_547_183_W->R 155 chr11:64575475:T:C 1833_542_181_H->R 155 chr11:64575478:T:G 1833_539_180_D->A 155 chr11:64575480:C:A 1833_537_179_E->D 155 chr11:64575482:C:T 1833_535_179_E->K 155 chr11:64575482:C:G 1833_535_179_E->Q 155 chr11:64575487:A:G 1833_530_177_L->P 155 chr11:64575491:C:G 1833_526_176_A->P 155 chr11:64575493:A:C 1833_524_175_L->R 155 chr11:64575503:C:A 1833_514_172_D->Y 155 chr11:64575505:C:T 1833_512_171_R->Q 155 chr11:64575506:G:A 1833_511_171_R->W 155 chr11:64575514:A:G 1833_503_168_L->P 155 chr11:64575523:C:T 1833_494_165_C->Y 155 chr11:64575524:A:G 1833_493_165_C->R 155 chr11:64575526:G:T 1833_491_164_A->D 155 chr11:64575533:C:A 1833_484_162_V->F 155 chr11:64575539:C:T 1833_478_160_A->T 155 chr11:64575539:C:G 1833_478_160_A->P 155 chr11:64575544:G:T 1833_473_158_A->D 155 chr11:64575550:C:T 1833_467_156_G->D 155 chr11:64575550:C:A 1833_467_156_G->V 155 chr11:64575551:C:A 1833_466_156_G->C 155 chr11:64575551:C:G 1833_466_156_G->R 155 chr11:64575551:C:T 1833_466_156_G->S 155 chr11:64575553:G:A 1833_464_155_S->F 155 chr11:64575556:C:A 1833_461_154_S->I 155 chr11:64575558:G:C 1833_459_153_D->E 155 chr11:64575559:T:A 1833_458_153_D->V 155 chr11:64575560:C:A 1833_457_153_D->Y 155 chr11:64577140:T:G 1833_442_148_T->P 155 chr11:64577143:T:A 1833_439_147_I->F 155 chr11:64577151:A:C 1833_431_144_F->C 155 chr11:64577152:A:C 1833_430_144_F->V 155 chr11:64577166:T:G 1833_416_139_H->P 155 chr11:64577166:T:C 1833_416_139_H->R 155 chr11:64577167:G:A 1833_415_139_H->Y 155 chr11:64577167:G:C 1833_415_139_H->D 155 chr11:64577235:T:C 1833_347_116_E->G 155 chr11:64577253:C:T 1833_329_110_G->E 155 chr11:64577289:C:A 1833_293_98_R->L 155 chr11:64577310:G:A 1833_272_91_A->V 155 chr11:64577428:G:C 1833_154_52_R->G 155 chr11:64577436:G:A 1833_146_49_A->V 155 chr11:64577447:C:G 1833_135_45_E->D 155 chr11:64577448:T:G 1833_134_45_E->A 155 chr11:64577448:T:C 1833_134_45_E->G 155 chr11:64577448:T:A 1833_134_45_E->V 155 chr11:64577449:C:T 1833_133_45_E->K 155 chr11:64577449:C:G 1833_133_45_E->Q 155 chr11:64577457:C:T 1833_125_42_G->D 155 chr11:64577466:A:C 1833_116_39_L->W 155 chr11:64577470:A:G 1833_112_38_S->P 155 chr11:64577499:C:G 1833_83_28_G->A 155 chr11:64577502:A:G 1833_80_27_L->P 155 chr11:64577506:C:T 1833_76_26_E->K 155 chr11:64577517:A:C 1833_65_22_L->R 155 chr11:64577547:G:A 1833_35_12_P->L 155 chr11:64577581:T:C 1833_1_1_M->V 155 oneKG Variants: 155 chr11:64571991:C:A 1833_1648_550_V->L 0.000199681 155 chr11:64572018:T:C 1833_1621_541_T->A 0.165535 155 chr11:64572099:G:A 1833_1540_514_P->S 0.000199681 155 chr11:64572131:C:T 1833_1508_503_G->D 0.000399361 155 chr11:64573127:G:A 1833_1165_389_R->W 0.000199681 155 chr11:64573194:T:A 1833_1098_366_E->D 0.000399361 155 chr11:64575505:C:T 1833_512_171_R->Q 0.0061901 155 chr11:64575517:G:A 1833_500_167_A->V 0.000199681 155 chr11:64577272:A:C 1833_310_104_S->A 0.000199681 155 chr11:64577521:G:T 1833_61_21_R->S 0.000599042 155 na12878 Variants: 155 chr11:64572018:T:C 1833_1621_541_T->A 155 snyder Variants: 155 chr11:64572018:T:C 1833_1621_541_T->A 156 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000315422 gene_Name: MEN1_HUMAN 156 list of pdbs: 156 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 156 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 156 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 156 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 156 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 156 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 156 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 156 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 156 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 156 Zimmer Variants: 156 chr11:64572018:T:C 1833_1621_541_T->A 156 HGMD Variants: 156 chr11:64571907:G:A 1833_1732_578_Q->* 156 chr11:64571924:G:T 1833_1715_572_S->* 156 chr11:64571952:C:A 1833_1687_563_E->* 156 chr11:64571964:T:A 1833_1675_559_K->* 156 chr11:64571973:C:A 1833_1666_556_E->* 156 chr11:64571979:G:A 1833_1660_554_Q->* 156 chr11:64572033:G:A 1833_1606_536_Q->* 156 chr11:64572051:C:A 1833_1588_530_E->* 156 chr11:64572060:G:A 1833_1579_527_R->* 156 chr11:64572117:G:A 1833_1522_508_Q->* 156 chr11:64572210:C:A 1833_1429_477_E->* 156 chr11:64572222:C:A 1833_1417_473_E->* 156 chr11:64572226:C:T 1833_1413_471_W->* 156 chr11:64572227:C:T 1833_1412_471_W->* 156 chr11:64572237:C:A 1833_1402_468_E->* 156 chr11:64572252:C:A 1833_1387_463_E->* 156 chr11:64572261:G:A 1833_1378_460_R->* 156 chr11:64572282:G:A 1833_1357_453_Q->* 156 chr11:64572508:G:A 1833_1348_450_Q->* 156 chr11:64572532:G:A 1833_1324_442_Q->* 156 chr11:64572548:C:T 1833_1308_436_W->* 156 chr11:64572549:C:T 1833_1307_436_W->* 156 chr11:64572583:C:A 1833_1273_425_E->* 156 chr11:64572587:C:T 1833_1269_423_W->* 156 chr11:64572588:C:T 1833_1268_423_W->* 156 chr11:64572605:G:C 1833_1251_417_Y->* 156 chr11:64572605:G:T 1833_1251_417_Y->* 156 chr11:64572613:G:A 1833_1243_415_R->* 156 chr11:64572629:G:T 1833_1227_409_C->* 156 chr11:64572643:G:A 1833_1213_405_Q->* 156 chr11:64572664:G:A 1833_1192_398_Q->* 156 chr11:64573109:G:A 1833_1183_395_Q->* 156 chr11:64573115:G:A 1833_1177_393_Q->* 156 chr11:64573118:C:A 1833_1174_392_E->* 156 chr11:64573130:C:A 1833_1162_388_E->* 156 chr11:64573142:C:A 1833_1150_384_E->* 156 chr11:64573196:C:A 1833_1096_366_E->* 156 chr11:64573208:T:A 1833_1084_362_K->* 156 chr11:64573220:C:A 1833_1072_358_E->* 156 chr11:64573230:G:T 1833_1062_354_C->* 156 chr11:64573233:G:T 1833_1059_353_Y->* 156 chr11:64573239:G:C 1833_1053_351_Y->* 156 chr11:64573708:G:A 1833_1045_349_Q->* 156 chr11:64573730:C:T 1833_1023_341_W->* 156 chr11:64573731:C:T 1833_1022_341_W->* 156 chr11:64573738:G:A 1833_1015_339_Q->* 156 chr11:64573784:G:T 1833_969_323_Y->* 156 chr11:64573784:G:C 1833_969_323_Y->* 156 chr11:64573807:C:A 1833_946_316_E->* 156 chr11:64573814:A:C 1833_939_313_Y->* 156 chr11:64573817:G:T 1833_936_312_Y->* 156 chr11:64573817:G:C 1833_936_312_Y->* 156 chr11:64573830:G:T 1833_923_308_S->* 156 chr11:64573830:G:C 1833_923_308_S->* 156 chr11:64574567:G:T 1833_828_276_Y->* 156 chr11:64574664:C:A 1833_811_271_G->* 156 chr11:64574671:A:C 1833_804_268_Y->* 156 chr11:64574671:A:T 1833_804_268_Y->* 156 chr11:64574680:C:T 1833_795_265_W->* 156 chr11:64574681:C:T 1833_794_265_W->* 156 chr11:64574691:T:A 1833_784_262_K->* 156 chr11:64575026:G:A 1833_781_261_Q->* 156 chr11:64575029:G:A 1833_778_260_Q->* 156 chr11:64575035:G:A 1833_772_258_Q->* 156 chr11:64575049:G:T 1833_758_253_S->* 156 chr11:64575126:G:T 1833_681_227_Y->* 156 chr11:64575126:G:C 1833_681_227_Y->* 156 chr11:64575130:G:C 1833_677_226_S->* 156 chr11:64575137:T:A 1833_670_224_K->* 156 chr11:64575147:C:T 1833_660_220_W->* 156 chr11:64575148:C:T 1833_659_220_W->* 156 chr11:64575392:G:A 1833_625_209_Q->* 156 chr11:64575423:C:T 1833_594_198_W->* 156 chr11:64575424:C:T 1833_593_198_W->* 156 chr11:64575443:G:A 1833_574_192_Q->* 156 chr11:64575446:C:A 1833_571_191_E->* 156 chr11:64575468:C:T 1833_549_183_W->* 156 chr11:64575469:C:T 1833_548_183_W->* 156 chr11:64575521:G:A 1833_496_166_Q->* 156 chr11:64575562:A:T 1833_455_152_L->* 156 chr11:64577161:G:A 1833_421_141_Q->* 156 chr11:64577183:G:C 1833_399_133_Y->* 156 chr11:64577204:C:T 1833_378_126_W->* 156 chr11:64577205:C:T 1833_377_126_W->* 156 chr11:64577224:T:A 1833_358_120_K->* 156 chr11:64577227:T:A 1833_355_119_K->* 156 chr11:64577236:C:A 1833_346_116_E->* 156 chr11:64577260:G:A 1833_322_108_R->* 156 chr11:64577290:G:A 1833_292_98_R->* 156 chr11:64577296:G:A 1833_286_96_Q->* 156 chr11:64577351:G:C 1833_231_77_Y->* 156 chr11:64577351:G:T 1833_231_77_Y->* 156 chr11:64577392:G:A 1833_190_64_Q->* 156 chr11:64577449:C:A 1833_133_45_E->* 156 chr11:64577494:C:A 1833_88_30_E->* 156 chr11:64577497:G:A 1833_85_29_R->* 156 chr11:64577506:C:A 1833_76_26_E->* 156 chr11:64577563:G:A 1833_19_7_Q->* 156 chr11:64571892:A:G 1833_1747_583_S->P 156 chr11:64571903:A:G 1833_1736_579_L->P 156 chr11:64571915:A:T 1833_1724_575_I->N 156 chr11:64571966:A:T 1833_1673_558_M->K 156 chr11:64571970:T:C 1833_1669_557_K->E 156 chr11:64571975:C:T 1833_1664_555_S->N 156 chr11:64571976:T:G 1833_1663_555_S->R 156 chr11:64571991:C:G 1833_1648_550_V->L 156 chr11:64572009:G:A 1833_1630_544_P->S 156 chr11:64572018:T:C 1833_1621_541_T->A 156 chr11:64572021:G:A 1833_1618_540_P->S 156 chr11:64572045:C:A 1833_1594_532_G->C 156 chr11:64572093:G:C 1833_1546_516_R->G 156 chr11:64572117:G:T 1833_1522_508_Q->K 156 chr11:64572131:C:T 1833_1508_503_G->D 156 chr11:64572226:C:A 1833_1413_471_W->C 156 chr11:64572516:A:G 1833_1340_447_F->S 156 chr11:64572517:A:G 1833_1339_447_F->L 156 chr11:64572525:A:G 1833_1331_444_L->P 156 chr11:64572528:G:T 1833_1328_443_S->Y 156 chr11:64572548:C:A 1833_1308_436_W->C 156 chr11:64572550:A:G 1833_1306_436_W->R 156 chr11:64572575:A:T 1833_1281_427_S->R 156 chr11:64572576:C:A 1833_1280_427_S->I 156 chr11:64572588:C:G 1833_1268_423_W->S 156 chr11:64572589:A:G 1833_1267_423_W->R 156 chr11:64572594:C:T 1833_1262_421_C->Y 156 chr11:64572597:A:T 1833_1259_420_I->N 156 chr11:64572604:C:T 1833_1252_418_D->N 156 chr11:64572604:C:G 1833_1252_418_D->H 156 chr11:64572612:C:G 1833_1244_415_R->P 156 chr11:64572615:A:T 1833_1241_414_L->Q 156 chr11:64572615:A:G 1833_1241_414_L->P 156 chr11:64572618:A:G 1833_1238_413_L->P 156 chr11:64572618:A:C 1833_1238_413_L->R 156 chr11:64572625:C:G 1833_1231_411_A->P 156 chr11:64573138:G:A 1833_1154_385_A->V 156 chr11:64573165:A:G 1833_1127_376_L->P 156 chr11:64573168:A:G 1833_1124_375_L->P 156 chr11:64573174:G:A 1833_1118_373_P->L 156 chr11:64573175:G:A 1833_1117_373_P->S 156 chr11:64573176:G:C 1833_1116_372_I->M 156 chr11:64573189:G:T 1833_1103_368_A->D 156 chr11:64573194:T:A 1833_1098_366_E->D 156 chr11:64573201:A:C 1833_1091_364_F->C 156 chr11:64573223:C:G 1833_1069_357_D->H 156 chr11:64573229:G:A 1833_1063_355_R->W 156 chr11:64573235:A:C 1833_1057_353_Y->D 156 chr11:64573241:A:T 1833_1051_351_Y->N 156 chr11:64573241:A:G 1833_1051_351_Y->H 156 chr11:64573704:T:A 1833_1049_350_D->V 156 chr11:64573710:A:T 1833_1043_348_I->N 156 chr11:64573722:G:C 1833_1031_344_T->R 156 chr11:64573729:C:G 1833_1024_342_A->P 156 chr11:64573732:A:T 1833_1021_341_W->R 156 chr11:64573732:A:G 1833_1021_341_W->R 156 chr11:64573740:A:G 1833_1013_338_L->P 156 chr11:64573743:G:T 1833_1010_337_A->D 156 chr11:64573744:C:G 1833_1009_337_A->P 156 chr11:64573780:C:G 1833_973_325_A->P 156 chr11:64573794:G:C 1833_959_320_P->R 156 chr11:64573794:G:A 1833_959_320_P->L 156 chr11:64573803:T:C 1833_950_317_H->R 156 chr11:64573804:G:A 1833_949_317_H->Y 156 chr11:64573810:C:A 1833_943_315_D->Y 156 chr11:64573812:C:G 1833_941_314_R->P 156 chr11:64573822:T:G 1833_931_311_T->P 156 chr11:64573828:C:G 1833_925_309_A->P 156 chr11:64573839:C:T 1833_914_305_G->D 156 chr11:64573840:C:G 1833_913_305_G->R 156 chr11:64574493:A:C 1833_902_301_L->R 156 chr11:64574538:A:G 1833_857_286_L->P 156 chr11:64574544:G:T 1833_851_284_A->E 156 chr11:64574554:C:T 1833_841_281_G->R 156 chr11:64574554:C:G 1833_841_281_G->R 156 chr11:64574565:G:T 1833_830_277_P->H 156 chr11:64574651:C:T 1833_824_275_R->K 156 chr11:64574651:C:A 1833_824_275_R->M 156 chr11:64574654:T:G 1833_821_274_E->A 156 chr11:64574675:A:G 1833_800_267_L->P 156 chr11:64574684:A:G 1833_791_264_L->P 156 chr11:64575028:T:G 1833_779_260_Q->P 156 chr11:64575031:A:C 1833_776_259_L->R 156 chr11:64575031:A:G 1833_776_259_L->P 156 chr11:64575041:G:A 1833_766_256_L->F 156 chr11:64575044:C:T 1833_763_255_E->K 156 chr11:64575049:G:C 1833_758_253_S->W 156 chr11:64575049:G:A 1833_758_253_S->L 156 chr11:64575050:A:G 1833_757_253_S->P 156 chr11:64575082:G:A 1833_725_242_A->V 156 chr11:64575085:C:A 1833_722_241_C->F 156 chr11:64575085:C:T 1833_722_241_C->Y 156 chr11:64575086:A:G 1833_721_241_C->R 156 chr11:64575104:C:T 1833_703_235_E->K 156 chr11:64575116:C:G 1833_691_231_D->H 156 chr11:64575121:C:T 1833_686_229_R->H 156 chr11:64575121:C:A 1833_686_229_R->L 156 chr11:64575131:A:G 1833_676_226_S->P 156 chr11:64575134:C:T 1833_673_225_G->R 156 chr11:64575139:A:G 1833_668_223_L->P 156 chr11:64575148:C:A 1833_659_220_W->L 156 chr11:64575148:C:G 1833_659_220_W->S 156 chr11:64575374:C:T 1833_643_215_V->M 156 chr11:64575427:G:A 1833_590_197_T->I 156 chr11:64575433:T:C 1833_584_195_E->G 156 chr11:64575439:G:A 1833_578_193_T->I 156 chr11:64575454:G:A 1833_563_188_P->L 156 chr11:64575466:A:T 1833_551_184_V->E 156 chr11:64575468:C:G 1833_549_183_W->C 156 chr11:64575469:C:G 1833_548_183_W->S 156 chr11:64575470:A:G 1833_547_183_W->R 156 chr11:64575475:T:C 1833_542_181_H->R 156 chr11:64575478:T:G 1833_539_180_D->A 156 chr11:64575480:C:A 1833_537_179_E->D 156 chr11:64575482:C:T 1833_535_179_E->K 156 chr11:64575482:C:G 1833_535_179_E->Q 156 chr11:64575487:A:G 1833_530_177_L->P 156 chr11:64575491:C:G 1833_526_176_A->P 156 chr11:64575493:A:C 1833_524_175_L->R 156 chr11:64575503:C:A 1833_514_172_D->Y 156 chr11:64575505:C:T 1833_512_171_R->Q 156 chr11:64575506:G:A 1833_511_171_R->W 156 chr11:64575514:A:G 1833_503_168_L->P 156 chr11:64575523:C:T 1833_494_165_C->Y 156 chr11:64575524:A:G 1833_493_165_C->R 156 chr11:64575526:G:T 1833_491_164_A->D 156 chr11:64575533:C:A 1833_484_162_V->F 156 chr11:64575539:C:T 1833_478_160_A->T 156 chr11:64575539:C:G 1833_478_160_A->P 156 chr11:64575544:G:T 1833_473_158_A->D 156 chr11:64575550:C:T 1833_467_156_G->D 156 chr11:64575550:C:A 1833_467_156_G->V 156 chr11:64575551:C:A 1833_466_156_G->C 156 chr11:64575551:C:G 1833_466_156_G->R 156 chr11:64575551:C:T 1833_466_156_G->S 156 chr11:64575553:G:A 1833_464_155_S->F 156 chr11:64575556:C:A 1833_461_154_S->I 156 chr11:64575558:G:C 1833_459_153_D->E 156 chr11:64575559:T:A 1833_458_153_D->V 156 chr11:64575560:C:A 1833_457_153_D->Y 156 chr11:64577140:T:G 1833_442_148_T->P 156 chr11:64577143:T:A 1833_439_147_I->F 156 chr11:64577151:A:C 1833_431_144_F->C 156 chr11:64577152:A:C 1833_430_144_F->V 156 chr11:64577166:T:G 1833_416_139_H->P 156 chr11:64577166:T:C 1833_416_139_H->R 156 chr11:64577167:G:A 1833_415_139_H->Y 156 chr11:64577167:G:C 1833_415_139_H->D 156 chr11:64577235:T:C 1833_347_116_E->G 156 chr11:64577253:C:T 1833_329_110_G->E 156 chr11:64577289:C:A 1833_293_98_R->L 156 chr11:64577310:G:A 1833_272_91_A->V 156 chr11:64577428:G:C 1833_154_52_R->G 156 chr11:64577436:G:A 1833_146_49_A->V 156 chr11:64577447:C:G 1833_135_45_E->D 156 chr11:64577448:T:G 1833_134_45_E->A 156 chr11:64577448:T:C 1833_134_45_E->G 156 chr11:64577448:T:A 1833_134_45_E->V 156 chr11:64577449:C:T 1833_133_45_E->K 156 chr11:64577449:C:G 1833_133_45_E->Q 156 chr11:64577457:C:T 1833_125_42_G->D 156 chr11:64577466:A:C 1833_116_39_L->W 156 chr11:64577470:A:G 1833_112_38_S->P 156 chr11:64577499:C:G 1833_83_28_G->A 156 chr11:64577502:A:G 1833_80_27_L->P 156 chr11:64577506:C:T 1833_76_26_E->K 156 chr11:64577517:A:C 1833_65_22_L->R 156 chr11:64577547:G:A 1833_35_12_P->L 156 chr11:64577581:T:C 1833_1_1_M->V 156 oneKG Variants: 156 chr11:64571991:C:A 1833_1648_550_V->L 0.000199681 156 chr11:64572018:T:C 1833_1621_541_T->A 0.165535 156 chr11:64572099:G:A 1833_1540_514_P->S 0.000199681 156 chr11:64572131:C:T 1833_1508_503_G->D 0.000399361 156 chr11:64573127:G:A 1833_1165_389_R->W 0.000199681 156 chr11:64573194:T:A 1833_1098_366_E->D 0.000399361 156 chr11:64575505:C:T 1833_512_171_R->Q 0.0061901 156 chr11:64575517:G:A 1833_500_167_A->V 0.000199681 156 chr11:64577272:A:C 1833_310_104_S->A 0.000199681 156 chr11:64577521:G:T 1833_61_21_R->S 0.000599042 156 na12878 Variants: 156 chr11:64572018:T:C 1833_1621_541_T->A 156 snyder Variants: 156 chr11:64572018:T:C 1833_1621_541_T->A 157 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000337652 gene_Name: MEN1_HUMAN 157 list of pdbs: 157 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 157 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 157 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 157 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 157 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 157 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 157 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 157 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 157 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 157 Zimmer Variants: 157 chr11:64572018:T:C 1848_1636_546_T->A 157 HGMD Variants: 157 chr11:64571907:G:A 1848_1747_583_Q->* 157 chr11:64571924:G:T 1848_1730_577_S->* 157 chr11:64571952:C:A 1848_1702_568_E->* 157 chr11:64571964:T:A 1848_1690_564_K->* 157 chr11:64571973:C:A 1848_1681_561_E->* 157 chr11:64571979:G:A 1848_1675_559_Q->* 157 chr11:64572033:G:A 1848_1621_541_Q->* 157 chr11:64572051:C:A 1848_1603_535_E->* 157 chr11:64572060:G:A 1848_1594_532_R->* 157 chr11:64572117:G:A 1848_1537_513_Q->* 157 chr11:64572210:C:A 1848_1444_482_E->* 157 chr11:64572222:C:A 1848_1432_478_E->* 157 chr11:64572226:C:T 1848_1428_476_W->* 157 chr11:64572227:C:T 1848_1427_476_W->* 157 chr11:64572237:C:A 1848_1417_473_E->* 157 chr11:64572252:C:A 1848_1402_468_E->* 157 chr11:64572261:G:A 1848_1393_465_R->* 157 chr11:64572282:G:A 1848_1372_458_Q->* 157 chr11:64572508:G:A 1848_1363_455_Q->* 157 chr11:64572532:G:A 1848_1339_447_Q->* 157 chr11:64572548:C:T 1848_1323_441_W->* 157 chr11:64572549:C:T 1848_1322_441_W->* 157 chr11:64572583:C:A 1848_1288_430_E->* 157 chr11:64572587:C:T 1848_1284_428_W->* 157 chr11:64572588:C:T 1848_1283_428_W->* 157 chr11:64572605:G:C 1848_1266_422_Y->* 157 chr11:64572605:G:T 1848_1266_422_Y->* 157 chr11:64572613:G:A 1848_1258_420_R->* 157 chr11:64572629:G:T 1848_1242_414_C->* 157 chr11:64572643:G:A 1848_1228_410_Q->* 157 chr11:64572664:G:A 1848_1207_403_Q->* 157 chr11:64573109:G:A 1848_1198_400_Q->* 157 chr11:64573115:G:A 1848_1192_398_Q->* 157 chr11:64573118:C:A 1848_1189_397_E->* 157 chr11:64573130:C:A 1848_1177_393_E->* 157 chr11:64573142:C:A 1848_1165_389_E->* 157 chr11:64573196:C:A 1848_1111_371_E->* 157 chr11:64573208:T:A 1848_1099_367_K->* 157 chr11:64573220:C:A 1848_1087_363_E->* 157 chr11:64573230:G:T 1848_1077_359_C->* 157 chr11:64573233:G:T 1848_1074_358_Y->* 157 chr11:64573239:G:C 1848_1068_356_Y->* 157 chr11:64573708:G:A 1848_1060_354_Q->* 157 chr11:64573730:C:T 1848_1038_346_W->* 157 chr11:64573731:C:T 1848_1037_346_W->* 157 chr11:64573738:G:A 1848_1030_344_Q->* 157 chr11:64573784:G:T 1848_984_328_Y->* 157 chr11:64573784:G:C 1848_984_328_Y->* 157 chr11:64573807:C:A 1848_961_321_E->* 157 chr11:64573814:A:C 1848_954_318_Y->* 157 chr11:64573817:G:T 1848_951_317_Y->* 157 chr11:64573817:G:C 1848_951_317_Y->* 157 chr11:64573830:G:T 1848_938_313_S->* 157 chr11:64573830:G:C 1848_938_313_S->* 157 chr11:64574567:G:T 1848_843_281_Y->* 157 chr11:64574664:C:A 1848_826_276_G->* 157 chr11:64574671:A:C 1848_819_273_Y->* 157 chr11:64574671:A:T 1848_819_273_Y->* 157 chr11:64574680:C:T 1848_810_270_W->* 157 chr11:64574681:C:T 1848_809_270_W->* 157 chr11:64574691:T:A 1848_799_267_K->* 157 chr11:64575026:G:A 1848_796_266_Q->* 157 chr11:64575029:G:A 1848_793_265_Q->* 157 chr11:64575035:G:A 1848_787_263_Q->* 157 chr11:64575049:G:T 1848_773_258_S->* 157 chr11:64575126:G:T 1848_696_232_Y->* 157 chr11:64575126:G:C 1848_696_232_Y->* 157 chr11:64575130:G:C 1848_692_231_S->* 157 chr11:64575137:T:A 1848_685_229_K->* 157 chr11:64575147:C:T 1848_675_225_W->* 157 chr11:64575148:C:T 1848_674_225_W->* 157 chr11:64575392:G:A 1848_640_214_Q->* 157 chr11:64575423:C:T 1848_609_203_W->* 157 chr11:64575424:C:T 1848_608_203_W->* 157 chr11:64575443:G:A 1848_589_197_Q->* 157 chr11:64575446:C:A 1848_586_196_E->* 157 chr11:64575468:C:T 1848_564_188_W->* 157 chr11:64575469:C:T 1848_563_188_W->* 157 chr11:64575521:G:A 1848_511_171_Q->* 157 chr11:64575562:A:T 1848_470_157_L->* 157 chr11:64577161:G:A 1848_421_141_Q->* 157 chr11:64577183:G:C 1848_399_133_Y->* 157 chr11:64577204:C:T 1848_378_126_W->* 157 chr11:64577205:C:T 1848_377_126_W->* 157 chr11:64577224:T:A 1848_358_120_K->* 157 chr11:64577227:T:A 1848_355_119_K->* 157 chr11:64577236:C:A 1848_346_116_E->* 157 chr11:64577260:G:A 1848_322_108_R->* 157 chr11:64577290:G:A 1848_292_98_R->* 157 chr11:64577296:G:A 1848_286_96_Q->* 157 chr11:64577351:G:C 1848_231_77_Y->* 157 chr11:64577351:G:T 1848_231_77_Y->* 157 chr11:64577392:G:A 1848_190_64_Q->* 157 chr11:64577449:C:A 1848_133_45_E->* 157 chr11:64577494:C:A 1848_88_30_E->* 157 chr11:64577497:G:A 1848_85_29_R->* 157 chr11:64577506:C:A 1848_76_26_E->* 157 chr11:64577563:G:A 1848_19_7_Q->* 157 chr11:64571892:A:G 1848_1762_588_S->P 157 chr11:64571903:A:G 1848_1751_584_L->P 157 chr11:64571915:A:T 1848_1739_580_I->N 157 chr11:64571966:A:T 1848_1688_563_M->K 157 chr11:64571970:T:C 1848_1684_562_K->E 157 chr11:64571975:C:T 1848_1679_560_S->N 157 chr11:64571976:T:G 1848_1678_560_S->R 157 chr11:64571991:C:G 1848_1663_555_V->L 157 chr11:64572009:G:A 1848_1645_549_P->S 157 chr11:64572018:T:C 1848_1636_546_T->A 157 chr11:64572021:G:A 1848_1633_545_P->S 157 chr11:64572045:C:A 1848_1609_537_G->C 157 chr11:64572093:G:C 1848_1561_521_R->G 157 chr11:64572117:G:T 1848_1537_513_Q->K 157 chr11:64572131:C:T 1848_1523_508_G->D 157 chr11:64572226:C:A 1848_1428_476_W->C 157 chr11:64572516:A:G 1848_1355_452_F->S 157 chr11:64572517:A:G 1848_1354_452_F->L 157 chr11:64572525:A:G 1848_1346_449_L->P 157 chr11:64572528:G:T 1848_1343_448_S->Y 157 chr11:64572548:C:A 1848_1323_441_W->C 157 chr11:64572550:A:G 1848_1321_441_W->R 157 chr11:64572575:A:T 1848_1296_432_S->R 157 chr11:64572576:C:A 1848_1295_432_S->I 157 chr11:64572588:C:G 1848_1283_428_W->S 157 chr11:64572589:A:G 1848_1282_428_W->R 157 chr11:64572594:C:T 1848_1277_426_C->Y 157 chr11:64572597:A:T 1848_1274_425_I->N 157 chr11:64572604:C:T 1848_1267_423_D->N 157 chr11:64572604:C:G 1848_1267_423_D->H 157 chr11:64572612:C:G 1848_1259_420_R->P 157 chr11:64572615:A:T 1848_1256_419_L->Q 157 chr11:64572615:A:G 1848_1256_419_L->P 157 chr11:64572618:A:G 1848_1253_418_L->P 157 chr11:64572618:A:C 1848_1253_418_L->R 157 chr11:64572625:C:G 1848_1246_416_A->P 157 chr11:64573138:G:A 1848_1169_390_A->V 157 chr11:64573165:A:G 1848_1142_381_L->P 157 chr11:64573168:A:G 1848_1139_380_L->P 157 chr11:64573174:G:A 1848_1133_378_P->L 157 chr11:64573175:G:A 1848_1132_378_P->S 157 chr11:64573176:G:C 1848_1131_377_I->M 157 chr11:64573189:G:T 1848_1118_373_A->D 157 chr11:64573194:T:A 1848_1113_371_E->D 157 chr11:64573201:A:C 1848_1106_369_F->C 157 chr11:64573223:C:G 1848_1084_362_D->H 157 chr11:64573229:G:A 1848_1078_360_R->W 157 chr11:64573235:A:C 1848_1072_358_Y->D 157 chr11:64573241:A:T 1848_1066_356_Y->N 157 chr11:64573241:A:G 1848_1066_356_Y->H 157 chr11:64573704:T:A 1848_1064_355_D->V 157 chr11:64573710:A:T 1848_1058_353_I->N 157 chr11:64573722:G:C 1848_1046_349_T->R 157 chr11:64573729:C:G 1848_1039_347_A->P 157 chr11:64573732:A:T 1848_1036_346_W->R 157 chr11:64573732:A:G 1848_1036_346_W->R 157 chr11:64573740:A:G 1848_1028_343_L->P 157 chr11:64573743:G:T 1848_1025_342_A->D 157 chr11:64573744:C:G 1848_1024_342_A->P 157 chr11:64573780:C:G 1848_988_330_A->P 157 chr11:64573794:G:C 1848_974_325_P->R 157 chr11:64573794:G:A 1848_974_325_P->L 157 chr11:64573803:T:C 1848_965_322_H->R 157 chr11:64573804:G:A 1848_964_322_H->Y 157 chr11:64573810:C:A 1848_958_320_D->Y 157 chr11:64573812:C:G 1848_956_319_R->P 157 chr11:64573822:T:G 1848_946_316_T->P 157 chr11:64573828:C:G 1848_940_314_A->P 157 chr11:64573839:C:T 1848_929_310_G->D 157 chr11:64573840:C:G 1848_928_310_G->R 157 chr11:64574493:A:C 1848_917_306_L->R 157 chr11:64574538:A:G 1848_872_291_L->P 157 chr11:64574544:G:T 1848_866_289_A->E 157 chr11:64574554:C:T 1848_856_286_G->R 157 chr11:64574554:C:G 1848_856_286_G->R 157 chr11:64574565:G:T 1848_845_282_P->H 157 chr11:64574651:C:T 1848_839_280_R->K 157 chr11:64574651:C:A 1848_839_280_R->M 157 chr11:64574654:T:G 1848_836_279_E->A 157 chr11:64574675:A:G 1848_815_272_L->P 157 chr11:64574684:A:G 1848_806_269_L->P 157 chr11:64575028:T:G 1848_794_265_Q->P 157 chr11:64575031:A:C 1848_791_264_L->R 157 chr11:64575031:A:G 1848_791_264_L->P 157 chr11:64575041:G:A 1848_781_261_L->F 157 chr11:64575044:C:T 1848_778_260_E->K 157 chr11:64575049:G:C 1848_773_258_S->W 157 chr11:64575049:G:A 1848_773_258_S->L 157 chr11:64575050:A:G 1848_772_258_S->P 157 chr11:64575082:G:A 1848_740_247_A->V 157 chr11:64575085:C:A 1848_737_246_C->F 157 chr11:64575085:C:T 1848_737_246_C->Y 157 chr11:64575086:A:G 1848_736_246_C->R 157 chr11:64575104:C:T 1848_718_240_E->K 157 chr11:64575116:C:G 1848_706_236_D->H 157 chr11:64575121:C:T 1848_701_234_R->H 157 chr11:64575121:C:A 1848_701_234_R->L 157 chr11:64575131:A:G 1848_691_231_S->P 157 chr11:64575134:C:T 1848_688_230_G->R 157 chr11:64575139:A:G 1848_683_228_L->P 157 chr11:64575148:C:A 1848_674_225_W->L 157 chr11:64575148:C:G 1848_674_225_W->S 157 chr11:64575374:C:T 1848_658_220_V->M 157 chr11:64575427:G:A 1848_605_202_T->I 157 chr11:64575433:T:C 1848_599_200_E->G 157 chr11:64575439:G:A 1848_593_198_T->I 157 chr11:64575454:G:A 1848_578_193_P->L 157 chr11:64575466:A:T 1848_566_189_V->E 157 chr11:64575468:C:G 1848_564_188_W->C 157 chr11:64575469:C:G 1848_563_188_W->S 157 chr11:64575470:A:G 1848_562_188_W->R 157 chr11:64575475:T:C 1848_557_186_H->R 157 chr11:64575478:T:G 1848_554_185_D->A 157 chr11:64575480:C:A 1848_552_184_E->D 157 chr11:64575482:C:T 1848_550_184_E->K 157 chr11:64575482:C:G 1848_550_184_E->Q 157 chr11:64575487:A:G 1848_545_182_L->P 157 chr11:64575491:C:G 1848_541_181_A->P 157 chr11:64575493:A:C 1848_539_180_L->R 157 chr11:64575503:C:A 1848_529_177_D->Y 157 chr11:64575505:C:T 1848_527_176_R->Q 157 chr11:64575506:G:A 1848_526_176_R->W 157 chr11:64575514:A:G 1848_518_173_L->P 157 chr11:64575523:C:T 1848_509_170_C->Y 157 chr11:64575524:A:G 1848_508_170_C->R 157 chr11:64575526:G:T 1848_506_169_A->D 157 chr11:64575533:C:A 1848_499_167_V->F 157 chr11:64575539:C:T 1848_493_165_A->T 157 chr11:64575539:C:G 1848_493_165_A->P 157 chr11:64575544:G:T 1848_488_163_A->D 157 chr11:64575550:C:T 1848_482_161_G->D 157 chr11:64575550:C:A 1848_482_161_G->V 157 chr11:64575551:C:A 1848_481_161_G->C 157 chr11:64575551:C:G 1848_481_161_G->R 157 chr11:64575551:C:T 1848_481_161_G->S 157 chr11:64575553:G:A 1848_479_160_S->F 157 chr11:64575556:C:A 1848_476_159_S->I 157 chr11:64575558:G:C 1848_474_158_D->E 157 chr11:64575559:T:A 1848_473_158_D->V 157 chr11:64575560:C:A 1848_472_158_D->Y 157 chr11:64577140:T:G 1848_442_148_T->P 157 chr11:64577143:T:A 1848_439_147_I->F 157 chr11:64577151:A:C 1848_431_144_F->C 157 chr11:64577152:A:C 1848_430_144_F->V 157 chr11:64577166:T:G 1848_416_139_H->P 157 chr11:64577166:T:C 1848_416_139_H->R 157 chr11:64577167:G:A 1848_415_139_H->Y 157 chr11:64577167:G:C 1848_415_139_H->D 157 chr11:64577235:T:C 1848_347_116_E->G 157 chr11:64577253:C:T 1848_329_110_G->E 157 chr11:64577289:C:A 1848_293_98_R->L 157 chr11:64577310:G:A 1848_272_91_A->V 157 chr11:64577428:G:C 1848_154_52_R->G 157 chr11:64577436:G:A 1848_146_49_A->V 157 chr11:64577447:C:G 1848_135_45_E->D 157 chr11:64577448:T:G 1848_134_45_E->A 157 chr11:64577448:T:C 1848_134_45_E->G 157 chr11:64577448:T:A 1848_134_45_E->V 157 chr11:64577449:C:T 1848_133_45_E->K 157 chr11:64577449:C:G 1848_133_45_E->Q 157 chr11:64577457:C:T 1848_125_42_G->D 157 chr11:64577466:A:C 1848_116_39_L->W 157 chr11:64577470:A:G 1848_112_38_S->P 157 chr11:64577499:C:G 1848_83_28_G->A 157 chr11:64577502:A:G 1848_80_27_L->P 157 chr11:64577506:C:T 1848_76_26_E->K 157 chr11:64577517:A:C 1848_65_22_L->R 157 chr11:64577547:G:A 1848_35_12_P->L 157 chr11:64577581:T:C 1848_1_1_M->V 157 oneKG Variants: 157 chr11:64571991:C:A 1848_1663_555_V->L 0.000199681 157 chr11:64572018:T:C 1848_1636_546_T->A 0.165535 157 chr11:64572099:G:A 1848_1555_519_P->S 0.000199681 157 chr11:64572131:C:T 1848_1523_508_G->D 0.000399361 157 chr11:64573127:G:A 1848_1180_394_R->W 0.000199681 157 chr11:64573194:T:A 1848_1113_371_E->D 0.000399361 157 chr11:64575505:C:T 1848_527_176_R->Q 0.0061901 157 chr11:64575517:G:A 1848_515_172_A->V 0.000199681 157 chr11:64577272:A:C 1848_310_104_S->A 0.000199681 157 chr11:64577521:G:T 1848_61_21_R->S 0.000599042 157 na12878 Variants: 157 chr11:64572018:T:C 1848_1636_546_T->A 157 snyder Variants: 157 chr11:64572018:T:C 1848_1636_546_T->A 158 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000394376 gene_Name: MEN1_HUMAN 158 list of pdbs: 158 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 158 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 158 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 158 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 158 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 158 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 158 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 158 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 158 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 158 Zimmer Variants: 158 chr11:64572018:T:C 1848_1636_546_T->A 158 HGMD Variants: 158 chr11:64571907:G:A 1848_1747_583_Q->* 158 chr11:64571924:G:T 1848_1730_577_S->* 158 chr11:64571952:C:A 1848_1702_568_E->* 158 chr11:64571964:T:A 1848_1690_564_K->* 158 chr11:64571973:C:A 1848_1681_561_E->* 158 chr11:64571979:G:A 1848_1675_559_Q->* 158 chr11:64572033:G:A 1848_1621_541_Q->* 158 chr11:64572051:C:A 1848_1603_535_E->* 158 chr11:64572060:G:A 1848_1594_532_R->* 158 chr11:64572117:G:A 1848_1537_513_Q->* 158 chr11:64572210:C:A 1848_1444_482_E->* 158 chr11:64572222:C:A 1848_1432_478_E->* 158 chr11:64572226:C:T 1848_1428_476_W->* 158 chr11:64572227:C:T 1848_1427_476_W->* 158 chr11:64572237:C:A 1848_1417_473_E->* 158 chr11:64572252:C:A 1848_1402_468_E->* 158 chr11:64572261:G:A 1848_1393_465_R->* 158 chr11:64572282:G:A 1848_1372_458_Q->* 158 chr11:64572508:G:A 1848_1363_455_Q->* 158 chr11:64572532:G:A 1848_1339_447_Q->* 158 chr11:64572548:C:T 1848_1323_441_W->* 158 chr11:64572549:C:T 1848_1322_441_W->* 158 chr11:64572583:C:A 1848_1288_430_E->* 158 chr11:64572587:C:T 1848_1284_428_W->* 158 chr11:64572588:C:T 1848_1283_428_W->* 158 chr11:64572605:G:C 1848_1266_422_Y->* 158 chr11:64572605:G:T 1848_1266_422_Y->* 158 chr11:64572613:G:A 1848_1258_420_R->* 158 chr11:64572629:G:T 1848_1242_414_C->* 158 chr11:64572643:G:A 1848_1228_410_Q->* 158 chr11:64572664:G:A 1848_1207_403_Q->* 158 chr11:64573109:G:A 1848_1198_400_Q->* 158 chr11:64573115:G:A 1848_1192_398_Q->* 158 chr11:64573118:C:A 1848_1189_397_E->* 158 chr11:64573130:C:A 1848_1177_393_E->* 158 chr11:64573142:C:A 1848_1165_389_E->* 158 chr11:64573196:C:A 1848_1111_371_E->* 158 chr11:64573208:T:A 1848_1099_367_K->* 158 chr11:64573220:C:A 1848_1087_363_E->* 158 chr11:64573230:G:T 1848_1077_359_C->* 158 chr11:64573233:G:T 1848_1074_358_Y->* 158 chr11:64573239:G:C 1848_1068_356_Y->* 158 chr11:64573708:G:A 1848_1060_354_Q->* 158 chr11:64573730:C:T 1848_1038_346_W->* 158 chr11:64573731:C:T 1848_1037_346_W->* 158 chr11:64573738:G:A 1848_1030_344_Q->* 158 chr11:64573784:G:T 1848_984_328_Y->* 158 chr11:64573784:G:C 1848_984_328_Y->* 158 chr11:64573807:C:A 1848_961_321_E->* 158 chr11:64573814:A:C 1848_954_318_Y->* 158 chr11:64573817:G:T 1848_951_317_Y->* 158 chr11:64573817:G:C 1848_951_317_Y->* 158 chr11:64573830:G:T 1848_938_313_S->* 158 chr11:64573830:G:C 1848_938_313_S->* 158 chr11:64574567:G:T 1848_843_281_Y->* 158 chr11:64574664:C:A 1848_826_276_G->* 158 chr11:64574671:A:C 1848_819_273_Y->* 158 chr11:64574671:A:T 1848_819_273_Y->* 158 chr11:64574680:C:T 1848_810_270_W->* 158 chr11:64574681:C:T 1848_809_270_W->* 158 chr11:64574691:T:A 1848_799_267_K->* 158 chr11:64575026:G:A 1848_796_266_Q->* 158 chr11:64575029:G:A 1848_793_265_Q->* 158 chr11:64575035:G:A 1848_787_263_Q->* 158 chr11:64575049:G:T 1848_773_258_S->* 158 chr11:64575126:G:T 1848_696_232_Y->* 158 chr11:64575126:G:C 1848_696_232_Y->* 158 chr11:64575130:G:C 1848_692_231_S->* 158 chr11:64575137:T:A 1848_685_229_K->* 158 chr11:64575147:C:T 1848_675_225_W->* 158 chr11:64575148:C:T 1848_674_225_W->* 158 chr11:64575392:G:A 1848_640_214_Q->* 158 chr11:64575423:C:T 1848_609_203_W->* 158 chr11:64575424:C:T 1848_608_203_W->* 158 chr11:64575443:G:A 1848_589_197_Q->* 158 chr11:64575446:C:A 1848_586_196_E->* 158 chr11:64575468:C:T 1848_564_188_W->* 158 chr11:64575469:C:T 1848_563_188_W->* 158 chr11:64575521:G:A 1848_511_171_Q->* 158 chr11:64575562:A:T 1848_470_157_L->* 158 chr11:64577161:G:A 1848_421_141_Q->* 158 chr11:64577183:G:C 1848_399_133_Y->* 158 chr11:64577204:C:T 1848_378_126_W->* 158 chr11:64577205:C:T 1848_377_126_W->* 158 chr11:64577224:T:A 1848_358_120_K->* 158 chr11:64577227:T:A 1848_355_119_K->* 158 chr11:64577236:C:A 1848_346_116_E->* 158 chr11:64577260:G:A 1848_322_108_R->* 158 chr11:64577290:G:A 1848_292_98_R->* 158 chr11:64577296:G:A 1848_286_96_Q->* 158 chr11:64577351:G:C 1848_231_77_Y->* 158 chr11:64577351:G:T 1848_231_77_Y->* 158 chr11:64577392:G:A 1848_190_64_Q->* 158 chr11:64577449:C:A 1848_133_45_E->* 158 chr11:64577494:C:A 1848_88_30_E->* 158 chr11:64577497:G:A 1848_85_29_R->* 158 chr11:64577506:C:A 1848_76_26_E->* 158 chr11:64577563:G:A 1848_19_7_Q->* 158 chr11:64571892:A:G 1848_1762_588_S->P 158 chr11:64571903:A:G 1848_1751_584_L->P 158 chr11:64571915:A:T 1848_1739_580_I->N 158 chr11:64571966:A:T 1848_1688_563_M->K 158 chr11:64571970:T:C 1848_1684_562_K->E 158 chr11:64571975:C:T 1848_1679_560_S->N 158 chr11:64571976:T:G 1848_1678_560_S->R 158 chr11:64571991:C:G 1848_1663_555_V->L 158 chr11:64572009:G:A 1848_1645_549_P->S 158 chr11:64572018:T:C 1848_1636_546_T->A 158 chr11:64572021:G:A 1848_1633_545_P->S 158 chr11:64572045:C:A 1848_1609_537_G->C 158 chr11:64572093:G:C 1848_1561_521_R->G 158 chr11:64572117:G:T 1848_1537_513_Q->K 158 chr11:64572131:C:T 1848_1523_508_G->D 158 chr11:64572226:C:A 1848_1428_476_W->C 158 chr11:64572516:A:G 1848_1355_452_F->S 158 chr11:64572517:A:G 1848_1354_452_F->L 158 chr11:64572525:A:G 1848_1346_449_L->P 158 chr11:64572528:G:T 1848_1343_448_S->Y 158 chr11:64572548:C:A 1848_1323_441_W->C 158 chr11:64572550:A:G 1848_1321_441_W->R 158 chr11:64572575:A:T 1848_1296_432_S->R 158 chr11:64572576:C:A 1848_1295_432_S->I 158 chr11:64572588:C:G 1848_1283_428_W->S 158 chr11:64572589:A:G 1848_1282_428_W->R 158 chr11:64572594:C:T 1848_1277_426_C->Y 158 chr11:64572597:A:T 1848_1274_425_I->N 158 chr11:64572604:C:T 1848_1267_423_D->N 158 chr11:64572604:C:G 1848_1267_423_D->H 158 chr11:64572612:C:G 1848_1259_420_R->P 158 chr11:64572615:A:T 1848_1256_419_L->Q 158 chr11:64572615:A:G 1848_1256_419_L->P 158 chr11:64572618:A:G 1848_1253_418_L->P 158 chr11:64572618:A:C 1848_1253_418_L->R 158 chr11:64572625:C:G 1848_1246_416_A->P 158 chr11:64573138:G:A 1848_1169_390_A->V 158 chr11:64573165:A:G 1848_1142_381_L->P 158 chr11:64573168:A:G 1848_1139_380_L->P 158 chr11:64573174:G:A 1848_1133_378_P->L 158 chr11:64573175:G:A 1848_1132_378_P->S 158 chr11:64573176:G:C 1848_1131_377_I->M 158 chr11:64573189:G:T 1848_1118_373_A->D 158 chr11:64573194:T:A 1848_1113_371_E->D 158 chr11:64573201:A:C 1848_1106_369_F->C 158 chr11:64573223:C:G 1848_1084_362_D->H 158 chr11:64573229:G:A 1848_1078_360_R->W 158 chr11:64573235:A:C 1848_1072_358_Y->D 158 chr11:64573241:A:T 1848_1066_356_Y->N 158 chr11:64573241:A:G 1848_1066_356_Y->H 158 chr11:64573704:T:A 1848_1064_355_D->V 158 chr11:64573710:A:T 1848_1058_353_I->N 158 chr11:64573722:G:C 1848_1046_349_T->R 158 chr11:64573729:C:G 1848_1039_347_A->P 158 chr11:64573732:A:T 1848_1036_346_W->R 158 chr11:64573732:A:G 1848_1036_346_W->R 158 chr11:64573740:A:G 1848_1028_343_L->P 158 chr11:64573743:G:T 1848_1025_342_A->D 158 chr11:64573744:C:G 1848_1024_342_A->P 158 chr11:64573780:C:G 1848_988_330_A->P 158 chr11:64573794:G:C 1848_974_325_P->R 158 chr11:64573794:G:A 1848_974_325_P->L 158 chr11:64573803:T:C 1848_965_322_H->R 158 chr11:64573804:G:A 1848_964_322_H->Y 158 chr11:64573810:C:A 1848_958_320_D->Y 158 chr11:64573812:C:G 1848_956_319_R->P 158 chr11:64573822:T:G 1848_946_316_T->P 158 chr11:64573828:C:G 1848_940_314_A->P 158 chr11:64573839:C:T 1848_929_310_G->D 158 chr11:64573840:C:G 1848_928_310_G->R 158 chr11:64574493:A:C 1848_917_306_L->R 158 chr11:64574538:A:G 1848_872_291_L->P 158 chr11:64574544:G:T 1848_866_289_A->E 158 chr11:64574554:C:T 1848_856_286_G->R 158 chr11:64574554:C:G 1848_856_286_G->R 158 chr11:64574565:G:T 1848_845_282_P->H 158 chr11:64574651:C:T 1848_839_280_R->K 158 chr11:64574651:C:A 1848_839_280_R->M 158 chr11:64574654:T:G 1848_836_279_E->A 158 chr11:64574675:A:G 1848_815_272_L->P 158 chr11:64574684:A:G 1848_806_269_L->P 158 chr11:64575028:T:G 1848_794_265_Q->P 158 chr11:64575031:A:C 1848_791_264_L->R 158 chr11:64575031:A:G 1848_791_264_L->P 158 chr11:64575041:G:A 1848_781_261_L->F 158 chr11:64575044:C:T 1848_778_260_E->K 158 chr11:64575049:G:C 1848_773_258_S->W 158 chr11:64575049:G:A 1848_773_258_S->L 158 chr11:64575050:A:G 1848_772_258_S->P 158 chr11:64575082:G:A 1848_740_247_A->V 158 chr11:64575085:C:A 1848_737_246_C->F 158 chr11:64575085:C:T 1848_737_246_C->Y 158 chr11:64575086:A:G 1848_736_246_C->R 158 chr11:64575104:C:T 1848_718_240_E->K 158 chr11:64575116:C:G 1848_706_236_D->H 158 chr11:64575121:C:T 1848_701_234_R->H 158 chr11:64575121:C:A 1848_701_234_R->L 158 chr11:64575131:A:G 1848_691_231_S->P 158 chr11:64575134:C:T 1848_688_230_G->R 158 chr11:64575139:A:G 1848_683_228_L->P 158 chr11:64575148:C:A 1848_674_225_W->L 158 chr11:64575148:C:G 1848_674_225_W->S 158 chr11:64575374:C:T 1848_658_220_V->M 158 chr11:64575427:G:A 1848_605_202_T->I 158 chr11:64575433:T:C 1848_599_200_E->G 158 chr11:64575439:G:A 1848_593_198_T->I 158 chr11:64575454:G:A 1848_578_193_P->L 158 chr11:64575466:A:T 1848_566_189_V->E 158 chr11:64575468:C:G 1848_564_188_W->C 158 chr11:64575469:C:G 1848_563_188_W->S 158 chr11:64575470:A:G 1848_562_188_W->R 158 chr11:64575475:T:C 1848_557_186_H->R 158 chr11:64575478:T:G 1848_554_185_D->A 158 chr11:64575480:C:A 1848_552_184_E->D 158 chr11:64575482:C:T 1848_550_184_E->K 158 chr11:64575482:C:G 1848_550_184_E->Q 158 chr11:64575487:A:G 1848_545_182_L->P 158 chr11:64575491:C:G 1848_541_181_A->P 158 chr11:64575493:A:C 1848_539_180_L->R 158 chr11:64575503:C:A 1848_529_177_D->Y 158 chr11:64575505:C:T 1848_527_176_R->Q 158 chr11:64575506:G:A 1848_526_176_R->W 158 chr11:64575514:A:G 1848_518_173_L->P 158 chr11:64575523:C:T 1848_509_170_C->Y 158 chr11:64575524:A:G 1848_508_170_C->R 158 chr11:64575526:G:T 1848_506_169_A->D 158 chr11:64575533:C:A 1848_499_167_V->F 158 chr11:64575539:C:T 1848_493_165_A->T 158 chr11:64575539:C:G 1848_493_165_A->P 158 chr11:64575544:G:T 1848_488_163_A->D 158 chr11:64575550:C:T 1848_482_161_G->D 158 chr11:64575550:C:A 1848_482_161_G->V 158 chr11:64575551:C:A 1848_481_161_G->C 158 chr11:64575551:C:G 1848_481_161_G->R 158 chr11:64575551:C:T 1848_481_161_G->S 158 chr11:64575553:G:A 1848_479_160_S->F 158 chr11:64575556:C:A 1848_476_159_S->I 158 chr11:64575558:G:C 1848_474_158_D->E 158 chr11:64575559:T:A 1848_473_158_D->V 158 chr11:64575560:C:A 1848_472_158_D->Y 158 chr11:64577140:T:G 1848_442_148_T->P 158 chr11:64577143:T:A 1848_439_147_I->F 158 chr11:64577151:A:C 1848_431_144_F->C 158 chr11:64577152:A:C 1848_430_144_F->V 158 chr11:64577166:T:G 1848_416_139_H->P 158 chr11:64577166:T:C 1848_416_139_H->R 158 chr11:64577167:G:A 1848_415_139_H->Y 158 chr11:64577167:G:C 1848_415_139_H->D 158 chr11:64577235:T:C 1848_347_116_E->G 158 chr11:64577253:C:T 1848_329_110_G->E 158 chr11:64577289:C:A 1848_293_98_R->L 158 chr11:64577310:G:A 1848_272_91_A->V 158 chr11:64577428:G:C 1848_154_52_R->G 158 chr11:64577436:G:A 1848_146_49_A->V 158 chr11:64577447:C:G 1848_135_45_E->D 158 chr11:64577448:T:G 1848_134_45_E->A 158 chr11:64577448:T:C 1848_134_45_E->G 158 chr11:64577448:T:A 1848_134_45_E->V 158 chr11:64577449:C:T 1848_133_45_E->K 158 chr11:64577449:C:G 1848_133_45_E->Q 158 chr11:64577457:C:T 1848_125_42_G->D 158 chr11:64577466:A:C 1848_116_39_L->W 158 chr11:64577470:A:G 1848_112_38_S->P 158 chr11:64577499:C:G 1848_83_28_G->A 158 chr11:64577502:A:G 1848_80_27_L->P 158 chr11:64577506:C:T 1848_76_26_E->K 158 chr11:64577517:A:C 1848_65_22_L->R 158 chr11:64577547:G:A 1848_35_12_P->L 158 chr11:64577581:T:C 1848_1_1_M->V 158 oneKG Variants: 158 chr11:64571991:C:A 1848_1663_555_V->L 0.000199681 158 chr11:64572018:T:C 1848_1636_546_T->A 0.165535 158 chr11:64572099:G:A 1848_1555_519_P->S 0.000199681 158 chr11:64572131:C:T 1848_1523_508_G->D 0.000399361 158 chr11:64573127:G:A 1848_1180_394_R->W 0.000199681 158 chr11:64573194:T:A 1848_1113_371_E->D 0.000399361 158 chr11:64575505:C:T 1848_527_176_R->Q 0.0061901 158 chr11:64575517:G:A 1848_515_172_A->V 0.000199681 158 chr11:64577272:A:C 1848_310_104_S->A 0.000199681 158 chr11:64577521:G:T 1848_61_21_R->S 0.000599042 158 na12878 Variants: 158 chr11:64572018:T:C 1848_1636_546_T->A 158 snyder Variants: 158 chr11:64572018:T:C 1848_1636_546_T->A 159 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000394374 gene_Name: MEN1_HUMAN 159 list of pdbs: 159 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 159 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 159 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 159 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 159 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 159 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 159 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 159 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 159 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 159 Zimmer Variants: 159 chr11:64572018:T:C 1848_1636_546_T->A 159 HGMD Variants: 159 chr11:64571907:G:A 1848_1747_583_Q->* 159 chr11:64571924:G:T 1848_1730_577_S->* 159 chr11:64571952:C:A 1848_1702_568_E->* 159 chr11:64571964:T:A 1848_1690_564_K->* 159 chr11:64571973:C:A 1848_1681_561_E->* 159 chr11:64571979:G:A 1848_1675_559_Q->* 159 chr11:64572033:G:A 1848_1621_541_Q->* 159 chr11:64572051:C:A 1848_1603_535_E->* 159 chr11:64572060:G:A 1848_1594_532_R->* 159 chr11:64572117:G:A 1848_1537_513_Q->* 159 chr11:64572210:C:A 1848_1444_482_E->* 159 chr11:64572222:C:A 1848_1432_478_E->* 159 chr11:64572226:C:T 1848_1428_476_W->* 159 chr11:64572227:C:T 1848_1427_476_W->* 159 chr11:64572237:C:A 1848_1417_473_E->* 159 chr11:64572252:C:A 1848_1402_468_E->* 159 chr11:64572261:G:A 1848_1393_465_R->* 159 chr11:64572282:G:A 1848_1372_458_Q->* 159 chr11:64572508:G:A 1848_1363_455_Q->* 159 chr11:64572532:G:A 1848_1339_447_Q->* 159 chr11:64572548:C:T 1848_1323_441_W->* 159 chr11:64572549:C:T 1848_1322_441_W->* 159 chr11:64572583:C:A 1848_1288_430_E->* 159 chr11:64572587:C:T 1848_1284_428_W->* 159 chr11:64572588:C:T 1848_1283_428_W->* 159 chr11:64572605:G:C 1848_1266_422_Y->* 159 chr11:64572605:G:T 1848_1266_422_Y->* 159 chr11:64572613:G:A 1848_1258_420_R->* 159 chr11:64572629:G:T 1848_1242_414_C->* 159 chr11:64572643:G:A 1848_1228_410_Q->* 159 chr11:64572664:G:A 1848_1207_403_Q->* 159 chr11:64573109:G:A 1848_1198_400_Q->* 159 chr11:64573115:G:A 1848_1192_398_Q->* 159 chr11:64573118:C:A 1848_1189_397_E->* 159 chr11:64573130:C:A 1848_1177_393_E->* 159 chr11:64573142:C:A 1848_1165_389_E->* 159 chr11:64573196:C:A 1848_1111_371_E->* 159 chr11:64573208:T:A 1848_1099_367_K->* 159 chr11:64573220:C:A 1848_1087_363_E->* 159 chr11:64573230:G:T 1848_1077_359_C->* 159 chr11:64573233:G:T 1848_1074_358_Y->* 159 chr11:64573239:G:C 1848_1068_356_Y->* 159 chr11:64573708:G:A 1848_1060_354_Q->* 159 chr11:64573730:C:T 1848_1038_346_W->* 159 chr11:64573731:C:T 1848_1037_346_W->* 159 chr11:64573738:G:A 1848_1030_344_Q->* 159 chr11:64573784:G:T 1848_984_328_Y->* 159 chr11:64573784:G:C 1848_984_328_Y->* 159 chr11:64573807:C:A 1848_961_321_E->* 159 chr11:64573814:A:C 1848_954_318_Y->* 159 chr11:64573817:G:T 1848_951_317_Y->* 159 chr11:64573817:G:C 1848_951_317_Y->* 159 chr11:64573830:G:T 1848_938_313_S->* 159 chr11:64573830:G:C 1848_938_313_S->* 159 chr11:64574567:G:T 1848_843_281_Y->* 159 chr11:64574664:C:A 1848_826_276_G->* 159 chr11:64574671:A:C 1848_819_273_Y->* 159 chr11:64574671:A:T 1848_819_273_Y->* 159 chr11:64574680:C:T 1848_810_270_W->* 159 chr11:64574681:C:T 1848_809_270_W->* 159 chr11:64574691:T:A 1848_799_267_K->* 159 chr11:64575026:G:A 1848_796_266_Q->* 159 chr11:64575029:G:A 1848_793_265_Q->* 159 chr11:64575035:G:A 1848_787_263_Q->* 159 chr11:64575049:G:T 1848_773_258_S->* 159 chr11:64575126:G:T 1848_696_232_Y->* 159 chr11:64575126:G:C 1848_696_232_Y->* 159 chr11:64575130:G:C 1848_692_231_S->* 159 chr11:64575137:T:A 1848_685_229_K->* 159 chr11:64575147:C:T 1848_675_225_W->* 159 chr11:64575148:C:T 1848_674_225_W->* 159 chr11:64575392:G:A 1848_640_214_Q->* 159 chr11:64575423:C:T 1848_609_203_W->* 159 chr11:64575424:C:T 1848_608_203_W->* 159 chr11:64575443:G:A 1848_589_197_Q->* 159 chr11:64575446:C:A 1848_586_196_E->* 159 chr11:64575468:C:T 1848_564_188_W->* 159 chr11:64575469:C:T 1848_563_188_W->* 159 chr11:64575521:G:A 1848_511_171_Q->* 159 chr11:64575562:A:T 1848_470_157_L->* 159 chr11:64577161:G:A 1848_421_141_Q->* 159 chr11:64577183:G:C 1848_399_133_Y->* 159 chr11:64577204:C:T 1848_378_126_W->* 159 chr11:64577205:C:T 1848_377_126_W->* 159 chr11:64577224:T:A 1848_358_120_K->* 159 chr11:64577227:T:A 1848_355_119_K->* 159 chr11:64577236:C:A 1848_346_116_E->* 159 chr11:64577260:G:A 1848_322_108_R->* 159 chr11:64577290:G:A 1848_292_98_R->* 159 chr11:64577296:G:A 1848_286_96_Q->* 159 chr11:64577351:G:C 1848_231_77_Y->* 159 chr11:64577351:G:T 1848_231_77_Y->* 159 chr11:64577392:G:A 1848_190_64_Q->* 159 chr11:64577449:C:A 1848_133_45_E->* 159 chr11:64577494:C:A 1848_88_30_E->* 159 chr11:64577497:G:A 1848_85_29_R->* 159 chr11:64577506:C:A 1848_76_26_E->* 159 chr11:64577563:G:A 1848_19_7_Q->* 159 chr11:64571892:A:G 1848_1762_588_S->P 159 chr11:64571903:A:G 1848_1751_584_L->P 159 chr11:64571915:A:T 1848_1739_580_I->N 159 chr11:64571966:A:T 1848_1688_563_M->K 159 chr11:64571970:T:C 1848_1684_562_K->E 159 chr11:64571975:C:T 1848_1679_560_S->N 159 chr11:64571976:T:G 1848_1678_560_S->R 159 chr11:64571991:C:G 1848_1663_555_V->L 159 chr11:64572009:G:A 1848_1645_549_P->S 159 chr11:64572018:T:C 1848_1636_546_T->A 159 chr11:64572021:G:A 1848_1633_545_P->S 159 chr11:64572045:C:A 1848_1609_537_G->C 159 chr11:64572093:G:C 1848_1561_521_R->G 159 chr11:64572117:G:T 1848_1537_513_Q->K 159 chr11:64572131:C:T 1848_1523_508_G->D 159 chr11:64572226:C:A 1848_1428_476_W->C 159 chr11:64572516:A:G 1848_1355_452_F->S 159 chr11:64572517:A:G 1848_1354_452_F->L 159 chr11:64572525:A:G 1848_1346_449_L->P 159 chr11:64572528:G:T 1848_1343_448_S->Y 159 chr11:64572548:C:A 1848_1323_441_W->C 159 chr11:64572550:A:G 1848_1321_441_W->R 159 chr11:64572575:A:T 1848_1296_432_S->R 159 chr11:64572576:C:A 1848_1295_432_S->I 159 chr11:64572588:C:G 1848_1283_428_W->S 159 chr11:64572589:A:G 1848_1282_428_W->R 159 chr11:64572594:C:T 1848_1277_426_C->Y 159 chr11:64572597:A:T 1848_1274_425_I->N 159 chr11:64572604:C:T 1848_1267_423_D->N 159 chr11:64572604:C:G 1848_1267_423_D->H 159 chr11:64572612:C:G 1848_1259_420_R->P 159 chr11:64572615:A:T 1848_1256_419_L->Q 159 chr11:64572615:A:G 1848_1256_419_L->P 159 chr11:64572618:A:G 1848_1253_418_L->P 159 chr11:64572618:A:C 1848_1253_418_L->R 159 chr11:64572625:C:G 1848_1246_416_A->P 159 chr11:64573138:G:A 1848_1169_390_A->V 159 chr11:64573165:A:G 1848_1142_381_L->P 159 chr11:64573168:A:G 1848_1139_380_L->P 159 chr11:64573174:G:A 1848_1133_378_P->L 159 chr11:64573175:G:A 1848_1132_378_P->S 159 chr11:64573176:G:C 1848_1131_377_I->M 159 chr11:64573189:G:T 1848_1118_373_A->D 159 chr11:64573194:T:A 1848_1113_371_E->D 159 chr11:64573201:A:C 1848_1106_369_F->C 159 chr11:64573223:C:G 1848_1084_362_D->H 159 chr11:64573229:G:A 1848_1078_360_R->W 159 chr11:64573235:A:C 1848_1072_358_Y->D 159 chr11:64573241:A:T 1848_1066_356_Y->N 159 chr11:64573241:A:G 1848_1066_356_Y->H 159 chr11:64573704:T:A 1848_1064_355_D->V 159 chr11:64573710:A:T 1848_1058_353_I->N 159 chr11:64573722:G:C 1848_1046_349_T->R 159 chr11:64573729:C:G 1848_1039_347_A->P 159 chr11:64573732:A:T 1848_1036_346_W->R 159 chr11:64573732:A:G 1848_1036_346_W->R 159 chr11:64573740:A:G 1848_1028_343_L->P 159 chr11:64573743:G:T 1848_1025_342_A->D 159 chr11:64573744:C:G 1848_1024_342_A->P 159 chr11:64573780:C:G 1848_988_330_A->P 159 chr11:64573794:G:C 1848_974_325_P->R 159 chr11:64573794:G:A 1848_974_325_P->L 159 chr11:64573803:T:C 1848_965_322_H->R 159 chr11:64573804:G:A 1848_964_322_H->Y 159 chr11:64573810:C:A 1848_958_320_D->Y 159 chr11:64573812:C:G 1848_956_319_R->P 159 chr11:64573822:T:G 1848_946_316_T->P 159 chr11:64573828:C:G 1848_940_314_A->P 159 chr11:64573839:C:T 1848_929_310_G->D 159 chr11:64573840:C:G 1848_928_310_G->R 159 chr11:64574493:A:C 1848_917_306_L->R 159 chr11:64574538:A:G 1848_872_291_L->P 159 chr11:64574544:G:T 1848_866_289_A->E 159 chr11:64574554:C:T 1848_856_286_G->R 159 chr11:64574554:C:G 1848_856_286_G->R 159 chr11:64574565:G:T 1848_845_282_P->H 159 chr11:64574651:C:T 1848_839_280_R->K 159 chr11:64574651:C:A 1848_839_280_R->M 159 chr11:64574654:T:G 1848_836_279_E->A 159 chr11:64574675:A:G 1848_815_272_L->P 159 chr11:64574684:A:G 1848_806_269_L->P 159 chr11:64575028:T:G 1848_794_265_Q->P 159 chr11:64575031:A:C 1848_791_264_L->R 159 chr11:64575031:A:G 1848_791_264_L->P 159 chr11:64575041:G:A 1848_781_261_L->F 159 chr11:64575044:C:T 1848_778_260_E->K 159 chr11:64575049:G:C 1848_773_258_S->W 159 chr11:64575049:G:A 1848_773_258_S->L 159 chr11:64575050:A:G 1848_772_258_S->P 159 chr11:64575082:G:A 1848_740_247_A->V 159 chr11:64575085:C:A 1848_737_246_C->F 159 chr11:64575085:C:T 1848_737_246_C->Y 159 chr11:64575086:A:G 1848_736_246_C->R 159 chr11:64575104:C:T 1848_718_240_E->K 159 chr11:64575116:C:G 1848_706_236_D->H 159 chr11:64575121:C:T 1848_701_234_R->H 159 chr11:64575121:C:A 1848_701_234_R->L 159 chr11:64575131:A:G 1848_691_231_S->P 159 chr11:64575134:C:T 1848_688_230_G->R 159 chr11:64575139:A:G 1848_683_228_L->P 159 chr11:64575148:C:A 1848_674_225_W->L 159 chr11:64575148:C:G 1848_674_225_W->S 159 chr11:64575374:C:T 1848_658_220_V->M 159 chr11:64575427:G:A 1848_605_202_T->I 159 chr11:64575433:T:C 1848_599_200_E->G 159 chr11:64575439:G:A 1848_593_198_T->I 159 chr11:64575454:G:A 1848_578_193_P->L 159 chr11:64575466:A:T 1848_566_189_V->E 159 chr11:64575468:C:G 1848_564_188_W->C 159 chr11:64575469:C:G 1848_563_188_W->S 159 chr11:64575470:A:G 1848_562_188_W->R 159 chr11:64575475:T:C 1848_557_186_H->R 159 chr11:64575478:T:G 1848_554_185_D->A 159 chr11:64575480:C:A 1848_552_184_E->D 159 chr11:64575482:C:T 1848_550_184_E->K 159 chr11:64575482:C:G 1848_550_184_E->Q 159 chr11:64575487:A:G 1848_545_182_L->P 159 chr11:64575491:C:G 1848_541_181_A->P 159 chr11:64575493:A:C 1848_539_180_L->R 159 chr11:64575503:C:A 1848_529_177_D->Y 159 chr11:64575505:C:T 1848_527_176_R->Q 159 chr11:64575506:G:A 1848_526_176_R->W 159 chr11:64575514:A:G 1848_518_173_L->P 159 chr11:64575523:C:T 1848_509_170_C->Y 159 chr11:64575524:A:G 1848_508_170_C->R 159 chr11:64575526:G:T 1848_506_169_A->D 159 chr11:64575533:C:A 1848_499_167_V->F 159 chr11:64575539:C:T 1848_493_165_A->T 159 chr11:64575539:C:G 1848_493_165_A->P 159 chr11:64575544:G:T 1848_488_163_A->D 159 chr11:64575550:C:T 1848_482_161_G->D 159 chr11:64575550:C:A 1848_482_161_G->V 159 chr11:64575551:C:A 1848_481_161_G->C 159 chr11:64575551:C:G 1848_481_161_G->R 159 chr11:64575551:C:T 1848_481_161_G->S 159 chr11:64575553:G:A 1848_479_160_S->F 159 chr11:64575556:C:A 1848_476_159_S->I 159 chr11:64575558:G:C 1848_474_158_D->E 159 chr11:64575559:T:A 1848_473_158_D->V 159 chr11:64575560:C:A 1848_472_158_D->Y 159 chr11:64577140:T:G 1848_442_148_T->P 159 chr11:64577143:T:A 1848_439_147_I->F 159 chr11:64577151:A:C 1848_431_144_F->C 159 chr11:64577152:A:C 1848_430_144_F->V 159 chr11:64577166:T:G 1848_416_139_H->P 159 chr11:64577166:T:C 1848_416_139_H->R 159 chr11:64577167:G:A 1848_415_139_H->Y 159 chr11:64577167:G:C 1848_415_139_H->D 159 chr11:64577235:T:C 1848_347_116_E->G 159 chr11:64577253:C:T 1848_329_110_G->E 159 chr11:64577289:C:A 1848_293_98_R->L 159 chr11:64577310:G:A 1848_272_91_A->V 159 chr11:64577428:G:C 1848_154_52_R->G 159 chr11:64577436:G:A 1848_146_49_A->V 159 chr11:64577447:C:G 1848_135_45_E->D 159 chr11:64577448:T:G 1848_134_45_E->A 159 chr11:64577448:T:C 1848_134_45_E->G 159 chr11:64577448:T:A 1848_134_45_E->V 159 chr11:64577449:C:T 1848_133_45_E->K 159 chr11:64577449:C:G 1848_133_45_E->Q 159 chr11:64577457:C:T 1848_125_42_G->D 159 chr11:64577466:A:C 1848_116_39_L->W 159 chr11:64577470:A:G 1848_112_38_S->P 159 chr11:64577499:C:G 1848_83_28_G->A 159 chr11:64577502:A:G 1848_80_27_L->P 159 chr11:64577506:C:T 1848_76_26_E->K 159 chr11:64577517:A:C 1848_65_22_L->R 159 chr11:64577547:G:A 1848_35_12_P->L 159 chr11:64577581:T:C 1848_1_1_M->V 159 oneKG Variants: 159 chr11:64571991:C:A 1848_1663_555_V->L 0.000199681 159 chr11:64572018:T:C 1848_1636_546_T->A 0.165535 159 chr11:64572099:G:A 1848_1555_519_P->S 0.000199681 159 chr11:64572131:C:T 1848_1523_508_G->D 0.000399361 159 chr11:64573127:G:A 1848_1180_394_R->W 0.000199681 159 chr11:64573194:T:A 1848_1113_371_E->D 0.000399361 159 chr11:64575505:C:T 1848_527_176_R->Q 0.0061901 159 chr11:64575517:G:A 1848_515_172_A->V 0.000199681 159 chr11:64577272:A:C 1848_310_104_S->A 0.000199681 159 chr11:64577521:G:T 1848_61_21_R->S 0.000599042 159 na12878 Variants: 159 chr11:64572018:T:C 1848_1636_546_T->A 159 snyder Variants: 159 chr11:64572018:T:C 1848_1636_546_T->A 160 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000443283 gene_Name: MEN1_HUMAN 160 list of pdbs: 160 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 160 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 160 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 160 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 160 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 160 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 160 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 160 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 160 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 160 Zimmer Variants: 160 chr11:64572018:T:C 1848_1636_546_T->A;HUB=PPI;GENE=MEN1;CANG=[DNA_repair][actionable][cancer];CDSS=3 160 HGMD Variants: 160 chr11:64571907:G:A 1848_1747_583_Q->* 160 chr11:64571924:G:T 1848_1730_577_S->* 160 chr11:64571952:C:A 1848_1702_568_E->* 160 chr11:64571964:T:A 1848_1690_564_K->* 160 chr11:64571973:C:A 1848_1681_561_E->* 160 chr11:64571979:G:A 1848_1675_559_Q->* 160 chr11:64572033:G:A 1848_1621_541_Q->* 160 chr11:64572051:C:A 1848_1603_535_E->* 160 chr11:64572060:G:A 1848_1594_532_R->* 160 chr11:64572117:G:A 1848_1537_513_Q->* 160 chr11:64572210:C:A 1848_1444_482_E->* 160 chr11:64572222:C:A 1848_1432_478_E->* 160 chr11:64572226:C:T 1848_1428_476_W->* 160 chr11:64572227:C:T 1848_1427_476_W->* 160 chr11:64572237:C:A 1848_1417_473_E->* 160 chr11:64572252:C:A 1848_1402_468_E->* 160 chr11:64572261:G:A 1848_1393_465_R->* 160 chr11:64572282:G:A 1848_1372_458_Q->* 160 chr11:64572508:G:A 1848_1363_455_Q->* 160 chr11:64572532:G:A 1848_1339_447_Q->* 160 chr11:64572548:C:T 1848_1323_441_W->* 160 chr11:64572549:C:T 1848_1322_441_W->* 160 chr11:64572583:C:A 1848_1288_430_E->* 160 chr11:64572587:C:T 1848_1284_428_W->* 160 chr11:64572588:C:T 1848_1283_428_W->* 160 chr11:64572605:G:C 1848_1266_422_Y->* 160 chr11:64572605:G:T 1848_1266_422_Y->* 160 chr11:64572613:G:A 1848_1258_420_R->* 160 chr11:64572629:G:T 1848_1242_414_C->* 160 chr11:64572643:G:A 1848_1228_410_Q->* 160 chr11:64572664:G:A 1848_1207_403_Q->* 160 chr11:64573109:G:A 1848_1198_400_Q->* 160 chr11:64573115:G:A 1848_1192_398_Q->* 160 chr11:64573118:C:A 1848_1189_397_E->* 160 chr11:64573130:C:A 1848_1177_393_E->* 160 chr11:64573142:C:A 1848_1165_389_E->* 160 chr11:64573196:C:A 1848_1111_371_E->* 160 chr11:64573208:T:A 1848_1099_367_K->* 160 chr11:64573220:C:A 1848_1087_363_E->* 160 chr11:64573230:G:T 1848_1077_359_C->* 160 chr11:64573233:G:T 1848_1074_358_Y->* 160 chr11:64573239:G:C 1848_1068_356_Y->* 160 chr11:64573708:G:A 1848_1060_354_Q->* 160 chr11:64573730:C:T 1848_1038_346_W->* 160 chr11:64573731:C:T 1848_1037_346_W->* 160 chr11:64573738:G:A 1848_1030_344_Q->* 160 chr11:64573784:G:T 1848_984_328_Y->* 160 chr11:64573784:G:C 1848_984_328_Y->* 160 chr11:64573807:C:A 1848_961_321_E->* 160 chr11:64573814:A:C 1848_954_318_Y->* 160 chr11:64573817:G:T 1848_951_317_Y->* 160 chr11:64573817:G:C 1848_951_317_Y->* 160 chr11:64573830:G:T 1848_938_313_S->* 160 chr11:64573830:G:C 1848_938_313_S->* 160 chr11:64574567:G:T 1848_843_281_Y->* 160 chr11:64574664:C:A 1848_826_276_G->* 160 chr11:64574671:A:C 1848_819_273_Y->* 160 chr11:64574671:A:T 1848_819_273_Y->* 160 chr11:64574680:C:T 1848_810_270_W->* 160 chr11:64574681:C:T 1848_809_270_W->* 160 chr11:64574691:T:A 1848_799_267_K->* 160 chr11:64575026:G:A 1848_796_266_Q->* 160 chr11:64575029:G:A 1848_793_265_Q->* 160 chr11:64575035:G:A 1848_787_263_Q->* 160 chr11:64575049:G:T 1848_773_258_S->* 160 chr11:64575126:G:T 1848_696_232_Y->* 160 chr11:64575126:G:C 1848_696_232_Y->* 160 chr11:64575130:G:C 1848_692_231_S->* 160 chr11:64575137:T:A 1848_685_229_K->* 160 chr11:64575147:C:T 1848_675_225_W->* 160 chr11:64575148:C:T 1848_674_225_W->* 160 chr11:64575392:G:A 1848_640_214_Q->* 160 chr11:64575423:C:T 1848_609_203_W->* 160 chr11:64575424:C:T 1848_608_203_W->* 160 chr11:64575443:G:A 1848_589_197_Q->* 160 chr11:64575446:C:A 1848_586_196_E->* 160 chr11:64575468:C:T 1848_564_188_W->* 160 chr11:64575469:C:T 1848_563_188_W->* 160 chr11:64575521:G:A 1848_511_171_Q->* 160 chr11:64575562:A:T 1848_470_157_L->* 160 chr11:64577161:G:A 1848_421_141_Q->* 160 chr11:64577183:G:C 1848_399_133_Y->* 160 chr11:64577204:C:T 1848_378_126_W->* 160 chr11:64577205:C:T 1848_377_126_W->* 160 chr11:64577224:T:A 1848_358_120_K->* 160 chr11:64577227:T:A 1848_355_119_K->* 160 chr11:64577236:C:A 1848_346_116_E->* 160 chr11:64577260:G:A 1848_322_108_R->* 160 chr11:64577290:G:A 1848_292_98_R->* 160 chr11:64577296:G:A 1848_286_96_Q->* 160 chr11:64577351:G:C 1848_231_77_Y->* 160 chr11:64577351:G:T 1848_231_77_Y->* 160 chr11:64577392:G:A 1848_190_64_Q->* 160 chr11:64577449:C:A 1848_133_45_E->* 160 chr11:64577494:C:A 1848_88_30_E->* 160 chr11:64577497:G:A 1848_85_29_R->* 160 chr11:64577506:C:A 1848_76_26_E->* 160 chr11:64577563:G:A 1848_19_7_Q->* 160 chr11:64571892:A:G 1848_1762_588_S->P 160 chr11:64571903:A:G 1848_1751_584_L->P 160 chr11:64571915:A:T 1848_1739_580_I->N 160 chr11:64571966:A:T 1848_1688_563_M->K 160 chr11:64571970:T:C 1848_1684_562_K->E 160 chr11:64571975:C:T 1848_1679_560_S->N 160 chr11:64571976:T:G 1848_1678_560_S->R 160 chr11:64571991:C:G 1848_1663_555_V->L 160 chr11:64572009:G:A 1848_1645_549_P->S 160 chr11:64572018:T:C 1848_1636_546_T->A 160 chr11:64572021:G:A 1848_1633_545_P->S 160 chr11:64572045:C:A 1848_1609_537_G->C 160 chr11:64572093:G:C 1848_1561_521_R->G 160 chr11:64572117:G:T 1848_1537_513_Q->K 160 chr11:64572131:C:T 1848_1523_508_G->D 160 chr11:64572226:C:A 1848_1428_476_W->C 160 chr11:64572516:A:G 1848_1355_452_F->S 160 chr11:64572517:A:G 1848_1354_452_F->L 160 chr11:64572525:A:G 1848_1346_449_L->P 160 chr11:64572528:G:T 1848_1343_448_S->Y 160 chr11:64572548:C:A 1848_1323_441_W->C 160 chr11:64572550:A:G 1848_1321_441_W->R 160 chr11:64572575:A:T 1848_1296_432_S->R 160 chr11:64572576:C:A 1848_1295_432_S->I 160 chr11:64572588:C:G 1848_1283_428_W->S 160 chr11:64572589:A:G 1848_1282_428_W->R 160 chr11:64572594:C:T 1848_1277_426_C->Y 160 chr11:64572597:A:T 1848_1274_425_I->N 160 chr11:64572604:C:T 1848_1267_423_D->N 160 chr11:64572604:C:G 1848_1267_423_D->H 160 chr11:64572612:C:G 1848_1259_420_R->P 160 chr11:64572615:A:T 1848_1256_419_L->Q 160 chr11:64572615:A:G 1848_1256_419_L->P 160 chr11:64572618:A:G 1848_1253_418_L->P 160 chr11:64572618:A:C 1848_1253_418_L->R 160 chr11:64572625:C:G 1848_1246_416_A->P 160 chr11:64573138:G:A 1848_1169_390_A->V 160 chr11:64573165:A:G 1848_1142_381_L->P 160 chr11:64573168:A:G 1848_1139_380_L->P 160 chr11:64573174:G:A 1848_1133_378_P->L 160 chr11:64573175:G:A 1848_1132_378_P->S 160 chr11:64573176:G:C 1848_1131_377_I->M 160 chr11:64573189:G:T 1848_1118_373_A->D 160 chr11:64573194:T:A 1848_1113_371_E->D 160 chr11:64573201:A:C 1848_1106_369_F->C 160 chr11:64573223:C:G 1848_1084_362_D->H 160 chr11:64573229:G:A 1848_1078_360_R->W 160 chr11:64573235:A:C 1848_1072_358_Y->D 160 chr11:64573241:A:T 1848_1066_356_Y->N 160 chr11:64573241:A:G 1848_1066_356_Y->H 160 chr11:64573704:T:A 1848_1064_355_D->V 160 chr11:64573710:A:T 1848_1058_353_I->N 160 chr11:64573722:G:C 1848_1046_349_T->R 160 chr11:64573729:C:G 1848_1039_347_A->P 160 chr11:64573732:A:T 1848_1036_346_W->R 160 chr11:64573732:A:G 1848_1036_346_W->R 160 chr11:64573740:A:G 1848_1028_343_L->P 160 chr11:64573743:G:T 1848_1025_342_A->D 160 chr11:64573744:C:G 1848_1024_342_A->P 160 chr11:64573780:C:G 1848_988_330_A->P 160 chr11:64573794:G:C 1848_974_325_P->R 160 chr11:64573794:G:A 1848_974_325_P->L 160 chr11:64573803:T:C 1848_965_322_H->R 160 chr11:64573804:G:A 1848_964_322_H->Y 160 chr11:64573810:C:A 1848_958_320_D->Y 160 chr11:64573812:C:G 1848_956_319_R->P 160 chr11:64573822:T:G 1848_946_316_T->P 160 chr11:64573828:C:G 1848_940_314_A->P 160 chr11:64573839:C:T 1848_929_310_G->D 160 chr11:64573840:C:G 1848_928_310_G->R 160 chr11:64574493:A:C 1848_917_306_L->R 160 chr11:64574538:A:G 1848_872_291_L->P 160 chr11:64574544:G:T 1848_866_289_A->E 160 chr11:64574554:C:T 1848_856_286_G->R 160 chr11:64574554:C:G 1848_856_286_G->R 160 chr11:64574565:G:T 1848_845_282_P->H 160 chr11:64574651:C:T 1848_839_280_R->K 160 chr11:64574651:C:A 1848_839_280_R->M 160 chr11:64574654:T:G 1848_836_279_E->A 160 chr11:64574675:A:G 1848_815_272_L->P 160 chr11:64574684:A:G 1848_806_269_L->P 160 chr11:64575028:T:G 1848_794_265_Q->P 160 chr11:64575031:A:C 1848_791_264_L->R 160 chr11:64575031:A:G 1848_791_264_L->P 160 chr11:64575041:G:A 1848_781_261_L->F 160 chr11:64575044:C:T 1848_778_260_E->K 160 chr11:64575049:G:C 1848_773_258_S->W 160 chr11:64575049:G:A 1848_773_258_S->L 160 chr11:64575050:A:G 1848_772_258_S->P 160 chr11:64575082:G:A 1848_740_247_A->V 160 chr11:64575085:C:A 1848_737_246_C->F 160 chr11:64575085:C:T 1848_737_246_C->Y 160 chr11:64575086:A:G 1848_736_246_C->R 160 chr11:64575104:C:T 1848_718_240_E->K 160 chr11:64575116:C:G 1848_706_236_D->H 160 chr11:64575121:C:T 1848_701_234_R->H 160 chr11:64575121:C:A 1848_701_234_R->L 160 chr11:64575131:A:G 1848_691_231_S->P 160 chr11:64575134:C:T 1848_688_230_G->R 160 chr11:64575139:A:G 1848_683_228_L->P 160 chr11:64575148:C:A 1848_674_225_W->L 160 chr11:64575148:C:G 1848_674_225_W->S 160 chr11:64575374:C:T 1848_658_220_V->M 160 chr11:64575427:G:A 1848_605_202_T->I 160 chr11:64575433:T:C 1848_599_200_E->G 160 chr11:64575439:G:A 1848_593_198_T->I 160 chr11:64575454:G:A 1848_578_193_P->L 160 chr11:64575466:A:T 1848_566_189_V->E,1 160 chr11:64575468:C:G 1848_564_188_W->C 160 chr11:64575469:C:G 1848_563_188_W->S 160 chr11:64575470:A:G 1848_562_188_W->R 160 chr11:64575475:T:C 1848_557_186_H->R 160 chr11:64575478:T:G 1848_554_185_D->A 160 chr11:64575480:C:A 1848_552_184_E->D 160 chr11:64575482:C:T 1848_550_184_E->K 160 chr11:64575482:C:G 1848_550_184_E->Q 160 chr11:64575487:A:G 1848_545_182_L->P 160 chr11:64575491:C:G 1848_541_181_A->P 160 chr11:64575493:A:C 1848_539_180_L->R 160 chr11:64575503:C:A 1848_529_177_D->Y 160 chr11:64575505:C:T 1848_527_176_R->Q 160 chr11:64575506:G:A 1848_526_176_R->W 160 chr11:64575514:A:G 1848_518_173_L->P 160 chr11:64575523:C:T 1848_509_170_C->Y 160 chr11:64575524:A:G 1848_508_170_C->R 160 chr11:64575526:G:T 1848_506_169_A->D 160 chr11:64575533:C:A 1848_499_167_V->F 160 chr11:64575539:C:T 1848_493_165_A->T 160 chr11:64575539:C:G 1848_493_165_A->P 160 chr11:64575544:G:T 1848_488_163_A->D 160 chr11:64575550:C:T 1848_482_161_G->D 160 chr11:64575550:C:A 1848_482_161_G->V 160 chr11:64575551:C:A 1848_481_161_G->C 160 chr11:64575551:C:G 1848_481_161_G->R 160 chr11:64575551:C:T 1848_481_161_G->S 160 chr11:64575553:G:A 1848_479_160_S->F 160 chr11:64575556:C:A 1848_476_159_S->I 160 chr11:64575558:G:C 1848_474_158_D->E 160 chr11:64575559:T:A 1848_473_158_D->V 160 chr11:64575560:C:A 1848_472_158_D->Y 160 chr11:64577140:T:G 1848_442_148_T->P 160 chr11:64577143:T:A 1848_439_147_I->F 160 chr11:64577151:A:C 1848_431_144_F->C 160 chr11:64577152:A:C 1848_430_144_F->V 160 chr11:64577166:T:G 1848_416_139_H->P 160 chr11:64577166:T:C 1848_416_139_H->R 160 chr11:64577167:G:A 1848_415_139_H->Y 160 chr11:64577167:G:C 1848_415_139_H->D 160 chr11:64577235:T:C 1848_347_116_E->G 160 chr11:64577253:C:T 1848_329_110_G->E 160 chr11:64577289:C:A 1848_293_98_R->L 160 chr11:64577310:G:A 1848_272_91_A->V 160 chr11:64577428:G:C 1848_154_52_R->G 160 chr11:64577436:G:A 1848_146_49_A->V 160 chr11:64577447:C:G 1848_135_45_E->D 160 chr11:64577448:T:G 1848_134_45_E->A 160 chr11:64577448:T:C 1848_134_45_E->G 160 chr11:64577448:T:A 1848_134_45_E->V 160 chr11:64577449:C:T 1848_133_45_E->K 160 chr11:64577449:C:G 1848_133_45_E->Q 160 chr11:64577457:C:T 1848_125_42_G->D 160 chr11:64577466:A:C 1848_116_39_L->W 160 chr11:64577470:A:G 1848_112_38_S->P 160 chr11:64577499:C:G 1848_83_28_G->A 160 chr11:64577502:A:G 1848_80_27_L->P 160 chr11:64577506:C:T 1848_76_26_E->K 160 chr11:64577517:A:C 1848_65_22_L->R 160 chr11:64577547:G:A 1848_35_12_P->L 160 chr11:64577581:T:C 1848_1_1_M->V 160 oneKG Variants: 160 chr11:64571991:C:A 1848_1663_555_V->L 0.000199681 160 chr11:64572018:T:C 1848_1636_546_T->A 0.165535 160 chr11:64572099:G:A 1848_1555_519_P->S 0.000199681 160 chr11:64572131:C:T 1848_1523_508_G->D 0.000399361 160 chr11:64573127:G:A 1848_1180_394_R->W 0.000199681 160 chr11:64573194:T:A 1848_1113_371_E->D 0.000399361 160 chr11:64575505:C:T 1848_527_176_R->Q 0.0061901 160 chr11:64575517:G:A 1848_515_172_A->V 0.000199681 160 chr11:64577272:A:C 1848_310_104_S->A 0.000199681 160 chr11:64577521:G:T 1848_61_21_R->S 0.000599042 160 na12878 Variants: 160 chr11:64572018:T:C 1848_1636_546_T->A 160 snyder Variants: 160 chr11:64572018:T:C 1848_1636_546_T->A 161 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133895_ENST00000377313 gene_Name: MEN1_HUMAN 161 list of pdbs: 161 4I80 pdb_description: 06-Mar-13 X-ray 3.100 Crystal structure of human menin in complex with a high-affi macrocyclic peptidomimetics 161 4GQ4 pdb_description: 19-Sep-12 X-ray 1.270 Human menin with bound inhibitor mi-2-2 161 4GQ3 pdb_description: 19-Sep-12 X-ray 1.560 Human menin with bound inhibitor mi-2 161 4GPQ pdb_description: 19-Sep-12 X-ray 1.460 Structural insights into inhibition of the bivalent menin-ml interaction by small molecules in leukemia 161 3U84 pdb_description: 15-Feb-12 X-ray 2.500 Crystal structure of human menin 161 4GQ6 pdb_description: 19-Sep-12 X-ray 1.550 Human menin in complex with mll peptide 161 3U88 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 and le 161 3U85 pdb_description: 15-Feb-12 X-ray 3.000 Crystal structure of human menin in complex with mll1 161 3U86 pdb_description: 15-Feb-12 X-ray 2.840 Crystal structure of human menin in complex with jund 161 Zimmer Variants: 161 chr11:64572018:T:C 1848_1636_546_T->A 161 HGMD Variants: 161 chr11:64571907:G:A 1848_1747_583_Q->* 161 chr11:64571924:G:T 1848_1730_577_S->* 161 chr11:64571952:C:A 1848_1702_568_E->* 161 chr11:64571964:T:A 1848_1690_564_K->* 161 chr11:64571973:C:A 1848_1681_561_E->* 161 chr11:64571979:G:A 1848_1675_559_Q->* 161 chr11:64572033:G:A 1848_1621_541_Q->* 161 chr11:64572051:C:A 1848_1603_535_E->* 161 chr11:64572060:G:A 1848_1594_532_R->* 161 chr11:64572117:G:A 1848_1537_513_Q->* 161 chr11:64572210:C:A 1848_1444_482_E->* 161 chr11:64572222:C:A 1848_1432_478_E->* 161 chr11:64572226:C:T 1848_1428_476_W->* 161 chr11:64572227:C:T 1848_1427_476_W->* 161 chr11:64572237:C:A 1848_1417_473_E->* 161 chr11:64572252:C:A 1848_1402_468_E->* 161 chr11:64572261:G:A 1848_1393_465_R->* 161 chr11:64572282:G:A 1848_1372_458_Q->* 161 chr11:64572508:G:A 1848_1363_455_Q->* 161 chr11:64572532:G:A 1848_1339_447_Q->* 161 chr11:64572548:C:T 1848_1323_441_W->* 161 chr11:64572549:C:T 1848_1322_441_W->* 161 chr11:64572583:C:A 1848_1288_430_E->* 161 chr11:64572587:C:T 1848_1284_428_W->* 161 chr11:64572588:C:T 1848_1283_428_W->* 161 chr11:64572605:G:C 1848_1266_422_Y->* 161 chr11:64572605:G:T 1848_1266_422_Y->* 161 chr11:64572613:G:A 1848_1258_420_R->* 161 chr11:64572629:G:T 1848_1242_414_C->* 161 chr11:64572643:G:A 1848_1228_410_Q->* 161 chr11:64572664:G:A 1848_1207_403_Q->* 161 chr11:64573109:G:A 1848_1198_400_Q->* 161 chr11:64573115:G:A 1848_1192_398_Q->* 161 chr11:64573118:C:A 1848_1189_397_E->* 161 chr11:64573130:C:A 1848_1177_393_E->* 161 chr11:64573142:C:A 1848_1165_389_E->* 161 chr11:64573196:C:A 1848_1111_371_E->* 161 chr11:64573208:T:A 1848_1099_367_K->* 161 chr11:64573220:C:A 1848_1087_363_E->* 161 chr11:64573230:G:T 1848_1077_359_C->* 161 chr11:64573233:G:T 1848_1074_358_Y->* 161 chr11:64573239:G:C 1848_1068_356_Y->* 161 chr11:64573708:G:A 1848_1060_354_Q->* 161 chr11:64573730:C:T 1848_1038_346_W->* 161 chr11:64573731:C:T 1848_1037_346_W->* 161 chr11:64573738:G:A 1848_1030_344_Q->* 161 chr11:64573784:G:T 1848_984_328_Y->* 161 chr11:64573784:G:C 1848_984_328_Y->* 161 chr11:64573807:C:A 1848_961_321_E->* 161 chr11:64573814:A:C 1848_954_318_Y->* 161 chr11:64573817:G:T 1848_951_317_Y->* 161 chr11:64573817:G:C 1848_951_317_Y->* 161 chr11:64573830:G:T 1848_938_313_S->* 161 chr11:64573830:G:C 1848_938_313_S->* 161 chr11:64574567:G:T 1848_843_281_Y->* 161 chr11:64574664:C:A 1848_826_276_G->* 161 chr11:64574671:A:C 1848_819_273_Y->* 161 chr11:64574671:A:T 1848_819_273_Y->* 161 chr11:64574680:C:T 1848_810_270_W->* 161 chr11:64574681:C:T 1848_809_270_W->* 161 chr11:64574691:T:A 1848_799_267_K->* 161 chr11:64575026:G:A 1848_796_266_Q->* 161 chr11:64575029:G:A 1848_793_265_Q->* 161 chr11:64575035:G:A 1848_787_263_Q->* 161 chr11:64575049:G:T 1848_773_258_S->* 161 chr11:64575126:G:T 1848_696_232_Y->* 161 chr11:64575126:G:C 1848_696_232_Y->* 161 chr11:64575130:G:C 1848_692_231_S->* 161 chr11:64575137:T:A 1848_685_229_K->* 161 chr11:64575147:C:T 1848_675_225_W->* 161 chr11:64575148:C:T 1848_674_225_W->* 161 chr11:64575392:G:A 1848_640_214_Q->* 161 chr11:64575423:C:T 1848_609_203_W->* 161 chr11:64575424:C:T 1848_608_203_W->* 161 chr11:64575443:G:A 1848_589_197_Q->* 161 chr11:64575446:C:A 1848_586_196_E->* 161 chr11:64575468:C:T 1848_564_188_W->* 161 chr11:64575469:C:T 1848_563_188_W->* 161 chr11:64575521:G:A 1848_511_171_Q->* 161 chr11:64575562:A:T 1848_470_157_L->* 161 chr11:64577161:G:A 1848_421_141_Q->* 161 chr11:64577183:G:C 1848_399_133_Y->* 161 chr11:64577204:C:T 1848_378_126_W->* 161 chr11:64577205:C:T 1848_377_126_W->* 161 chr11:64577224:T:A 1848_358_120_K->* 161 chr11:64577227:T:A 1848_355_119_K->* 161 chr11:64577236:C:A 1848_346_116_E->* 161 chr11:64577260:G:A 1848_322_108_R->* 161 chr11:64577290:G:A 1848_292_98_R->* 161 chr11:64577296:G:A 1848_286_96_Q->* 161 chr11:64577351:G:C 1848_231_77_Y->* 161 chr11:64577351:G:T 1848_231_77_Y->* 161 chr11:64577392:G:A 1848_190_64_Q->* 161 chr11:64577449:C:A 1848_133_45_E->* 161 chr11:64577494:C:A 1848_88_30_E->* 161 chr11:64577497:G:A 1848_85_29_R->* 161 chr11:64577506:C:A 1848_76_26_E->* 161 chr11:64577563:G:A 1848_19_7_Q->* 161 chr11:64571892:A:G 1848_1762_588_S->P 161 chr11:64571903:A:G 1848_1751_584_L->P 161 chr11:64571915:A:T 1848_1739_580_I->N 161 chr11:64571966:A:T 1848_1688_563_M->K 161 chr11:64571970:T:C 1848_1684_562_K->E 161 chr11:64571975:C:T 1848_1679_560_S->N 161 chr11:64571976:T:G 1848_1678_560_S->R 161 chr11:64571991:C:G 1848_1663_555_V->L 161 chr11:64572009:G:A 1848_1645_549_P->S 161 chr11:64572018:T:C 1848_1636_546_T->A 161 chr11:64572021:G:A 1848_1633_545_P->S 161 chr11:64572045:C:A 1848_1609_537_G->C 161 chr11:64572093:G:C 1848_1561_521_R->G 161 chr11:64572117:G:T 1848_1537_513_Q->K 161 chr11:64572131:C:T 1848_1523_508_G->D 161 chr11:64572226:C:A 1848_1428_476_W->C 161 chr11:64572516:A:G 1848_1355_452_F->S 161 chr11:64572517:A:G 1848_1354_452_F->L 161 chr11:64572525:A:G 1848_1346_449_L->P 161 chr11:64572528:G:T 1848_1343_448_S->Y 161 chr11:64572548:C:A 1848_1323_441_W->C 161 chr11:64572550:A:G 1848_1321_441_W->R 161 chr11:64572575:A:T 1848_1296_432_S->R 161 chr11:64572576:C:A 1848_1295_432_S->I 161 chr11:64572588:C:G 1848_1283_428_W->S 161 chr11:64572589:A:G 1848_1282_428_W->R 161 chr11:64572594:C:T 1848_1277_426_C->Y 161 chr11:64572597:A:T 1848_1274_425_I->N 161 chr11:64572604:C:T 1848_1267_423_D->N 161 chr11:64572604:C:G 1848_1267_423_D->H 161 chr11:64572612:C:G 1848_1259_420_R->P 161 chr11:64572615:A:T 1848_1256_419_L->Q 161 chr11:64572615:A:G 1848_1256_419_L->P 161 chr11:64572618:A:G 1848_1253_418_L->P 161 chr11:64572618:A:C 1848_1253_418_L->R 161 chr11:64572625:C:G 1848_1246_416_A->P 161 chr11:64573138:G:A 1848_1169_390_A->V 161 chr11:64573165:A:G 1848_1142_381_L->P 161 chr11:64573168:A:G 1848_1139_380_L->P 161 chr11:64573174:G:A 1848_1133_378_P->L 161 chr11:64573175:G:A 1848_1132_378_P->S 161 chr11:64573176:G:C 1848_1131_377_I->M 161 chr11:64573189:G:T 1848_1118_373_A->D 161 chr11:64573194:T:A 1848_1113_371_E->D 161 chr11:64573201:A:C 1848_1106_369_F->C 161 chr11:64573223:C:G 1848_1084_362_D->H 161 chr11:64573229:G:A 1848_1078_360_R->W 161 chr11:64573235:A:C 1848_1072_358_Y->D 161 chr11:64573241:A:T 1848_1066_356_Y->N 161 chr11:64573241:A:G 1848_1066_356_Y->H 161 chr11:64573704:T:A 1848_1064_355_D->V 161 chr11:64573710:A:T 1848_1058_353_I->N 161 chr11:64573722:G:C 1848_1046_349_T->R 161 chr11:64573729:C:G 1848_1039_347_A->P 161 chr11:64573732:A:T 1848_1036_346_W->R 161 chr11:64573732:A:G 1848_1036_346_W->R 161 chr11:64573740:A:G 1848_1028_343_L->P 161 chr11:64573743:G:T 1848_1025_342_A->D 161 chr11:64573744:C:G 1848_1024_342_A->P 161 chr11:64573780:C:G 1848_988_330_A->P 161 chr11:64573794:G:C 1848_974_325_P->R 161 chr11:64573794:G:A 1848_974_325_P->L 161 chr11:64573803:T:C 1848_965_322_H->R 161 chr11:64573804:G:A 1848_964_322_H->Y 161 chr11:64573810:C:A 1848_958_320_D->Y 161 chr11:64573812:C:G 1848_956_319_R->P 161 chr11:64573822:T:G 1848_946_316_T->P 161 chr11:64573828:C:G 1848_940_314_A->P 161 chr11:64573839:C:T 1848_929_310_G->D 161 chr11:64573840:C:G 1848_928_310_G->R 161 chr11:64574493:A:C 1848_917_306_L->R 161 chr11:64574538:A:G 1848_872_291_L->P 161 chr11:64574544:G:T 1848_866_289_A->E 161 chr11:64574554:C:T 1848_856_286_G->R 161 chr11:64574554:C:G 1848_856_286_G->R 161 chr11:64574565:G:T 1848_845_282_P->H 161 chr11:64574651:C:T 1848_839_280_R->K 161 chr11:64574651:C:A 1848_839_280_R->M 161 chr11:64574654:T:G 1848_836_279_E->A 161 chr11:64574675:A:G 1848_815_272_L->P 161 chr11:64574684:A:G 1848_806_269_L->P 161 chr11:64575028:T:G 1848_794_265_Q->P 161 chr11:64575031:A:C 1848_791_264_L->R 161 chr11:64575031:A:G 1848_791_264_L->P 161 chr11:64575041:G:A 1848_781_261_L->F 161 chr11:64575044:C:T 1848_778_260_E->K 161 chr11:64575049:G:C 1848_773_258_S->W 161 chr11:64575049:G:A 1848_773_258_S->L 161 chr11:64575050:A:G 1848_772_258_S->P 161 chr11:64575082:G:A 1848_740_247_A->V 161 chr11:64575085:C:A 1848_737_246_C->F 161 chr11:64575085:C:T 1848_737_246_C->Y 161 chr11:64575086:A:G 1848_736_246_C->R 161 chr11:64575104:C:T 1848_718_240_E->K 161 chr11:64575116:C:G 1848_706_236_D->H 161 chr11:64575121:C:T 1848_701_234_R->H 161 chr11:64575121:C:A 1848_701_234_R->L 161 chr11:64575131:A:G 1848_691_231_S->P 161 chr11:64575134:C:T 1848_688_230_G->R 161 chr11:64575139:A:G 1848_683_228_L->P 161 chr11:64575148:C:A 1848_674_225_W->L 161 chr11:64575148:C:G 1848_674_225_W->S 161 chr11:64575374:C:T 1848_658_220_V->M 161 chr11:64575427:G:A 1848_605_202_T->I 161 chr11:64575433:T:C 1848_599_200_E->G 161 chr11:64575439:G:A 1848_593_198_T->I 161 chr11:64575454:G:A 1848_578_193_P->L 161 chr11:64575466:A:T 1848_566_189_V->E 161 chr11:64575468:C:G 1848_564_188_W->C 161 chr11:64575469:C:G 1848_563_188_W->S 161 chr11:64575470:A:G 1848_562_188_W->R 161 chr11:64575475:T:C 1848_557_186_H->R 161 chr11:64575478:T:G 1848_554_185_D->A 161 chr11:64575480:C:A 1848_552_184_E->D 161 chr11:64575482:C:T 1848_550_184_E->K 161 chr11:64575482:C:G 1848_550_184_E->Q 161 chr11:64575487:A:G 1848_545_182_L->P 161 chr11:64575491:C:G 1848_541_181_A->P 161 chr11:64575493:A:C 1848_539_180_L->R 161 chr11:64575503:C:A 1848_529_177_D->Y 161 chr11:64575505:C:T 1848_527_176_R->Q 161 chr11:64575506:G:A 1848_526_176_R->W 161 chr11:64575514:A:G 1848_518_173_L->P 161 chr11:64575523:C:T 1848_509_170_C->Y 161 chr11:64575524:A:G 1848_508_170_C->R 161 chr11:64575526:G:T 1848_506_169_A->D 161 chr11:64575533:C:A 1848_499_167_V->F 161 chr11:64575539:C:T 1848_493_165_A->T 161 chr11:64575539:C:G 1848_493_165_A->P 161 chr11:64575544:G:T 1848_488_163_A->D 161 chr11:64575550:C:T 1848_482_161_G->D 161 chr11:64575550:C:A 1848_482_161_G->V 161 chr11:64575551:C:A 1848_481_161_G->C 161 chr11:64575551:C:G 1848_481_161_G->R 161 chr11:64575551:C:T 1848_481_161_G->S 161 chr11:64575553:G:A 1848_479_160_S->F 161 chr11:64575556:C:A 1848_476_159_S->I 161 chr11:64575558:G:C 1848_474_158_D->E 161 chr11:64575559:T:A 1848_473_158_D->V 161 chr11:64575560:C:A 1848_472_158_D->Y 161 chr11:64577140:T:G 1848_442_148_T->P 161 chr11:64577143:T:A 1848_439_147_I->F 161 chr11:64577151:A:C 1848_431_144_F->C 161 chr11:64577152:A:C 1848_430_144_F->V 161 chr11:64577166:T:G 1848_416_139_H->P 161 chr11:64577166:T:C 1848_416_139_H->R 161 chr11:64577167:G:A 1848_415_139_H->Y 161 chr11:64577167:G:C 1848_415_139_H->D 161 chr11:64577235:T:C 1848_347_116_E->G 161 chr11:64577253:C:T 1848_329_110_G->E 161 chr11:64577289:C:A 1848_293_98_R->L 161 chr11:64577310:G:A 1848_272_91_A->V 161 chr11:64577428:G:C 1848_154_52_R->G 161 chr11:64577436:G:A 1848_146_49_A->V 161 chr11:64577447:C:G 1848_135_45_E->D 161 chr11:64577448:T:G 1848_134_45_E->A 161 chr11:64577448:T:C 1848_134_45_E->G 161 chr11:64577448:T:A 1848_134_45_E->V 161 chr11:64577449:C:T 1848_133_45_E->K 161 chr11:64577449:C:G 1848_133_45_E->Q 161 chr11:64577457:C:T 1848_125_42_G->D 161 chr11:64577466:A:C 1848_116_39_L->W 161 chr11:64577470:A:G 1848_112_38_S->P 161 chr11:64577499:C:G 1848_83_28_G->A 161 chr11:64577502:A:G 1848_80_27_L->P 161 chr11:64577506:C:T 1848_76_26_E->K 161 chr11:64577517:A:C 1848_65_22_L->R 161 chr11:64577547:G:A 1848_35_12_P->L 161 chr11:64577581:T:C 1848_1_1_M->V 161 oneKG Variants: 161 chr11:64571991:C:A 1848_1663_555_V->L 0.000199681 161 chr11:64572018:T:C 1848_1636_546_T->A 0.165535 161 chr11:64572099:G:A 1848_1555_519_P->S 0.000199681 161 chr11:64572131:C:T 1848_1523_508_G->D 0.000399361 161 chr11:64573127:G:A 1848_1180_394_R->W 0.000199681 161 chr11:64573194:T:A 1848_1113_371_E->D 0.000399361 161 chr11:64575505:C:T 1848_527_176_R->Q 0.0061901 161 chr11:64575517:G:A 1848_515_172_A->V 0.000199681 161 chr11:64577272:A:C 1848_310_104_S->A 0.000199681 161 chr11:64577521:G:T 1848_61_21_R->S 0.000599042 161 na12878 Variants: 161 chr11:64572018:T:C 1848_1636_546_T->A 161 snyder Variants: 161 chr11:64572018:T:C 1848_1636_546_T->A 162 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000172638_ENST00000531972 gene_Name: FBLN4_HUMAN 162 list of pdbs: 162 2KL7 pdb_description: 21-Jul-09 NMR 20 Solution nmr structure of the egf-like 1 domain of human fibulin-4. Northeast structural genomics target hr6275 162 Zimmer Variants: 162 chr11:65636053:T:C 1332_775_259_I->V;HUB=PPI;GNEG=Yes;GENE=EFEMP2;CDSS=3 162 HGMD Variants: 162 chr11:65634532:C:T 1332_1189_397_A->T 162 chr11:65635993:G:A 1332_835_279_R->C 162 chr11:65636028:C:T 1332_800_267_C->Y 162 chr11:65636047:C:T 1332_781_261_E->K 162 chr11:65637376:G:A 1332_679_227_R->C 162 chr11:65637447:T:G 1332_608_203_D->A 162 chr11:65638016:C:T 1332_481_161_E->K 162 chr11:65638120:T:A 1332_377_126_E->V 162 chr11:65638121:C:T 1332_376_126_E->K 162 chr11:65638826:C:T 1332_169_57_E->K 162 chr11:65639801:G:T 1332_25_9_P->T 162 oneKG Variants: 162 chr11:65634396:G:A 1332_1325_442_T->I 0.000199681 162 chr11:65634432:G:T 1332_1289_430_S->Y 0.000199681 162 chr11:65634445:A:G 1332_1276_426_Y->H 0.000399361 162 chr11:65634538:C:T 1332_1183_395_V->I 0.000199681 162 chr11:65635794:C:A 1332_946_316_V->L 0.000798722 162 chr11:65635812:C:T 1332_928_310_V->M 0.000998403 162 chr11:65635866:G:A 1332_874_292_H->Y 0.000199681 162 chr11:65636047:C:T 1332_781_261_E->K 0.000399361 162 chr11:65636053:T:C 1332_775_259_I->V 0.105431 162 chr11:65636058:C:T 1332_770_257_R->H 0.000199681 162 chr11:65637630:G:A 1332_569_190_P->L 0.000199681 162 chr11:65637634:C:T 1332_565_189_E->K 0.000399361 162 chr11:65638018:G:A 1332_479_160_P->L 0.000199681 162 chr11:65638031:G:A 1332_466_156_R->C 0.000399361 162 chr11:65638042:G:T 1332_455_152_P->H 0.0 162 chr11:65638075:T:A 1332_422_141_H->L 0.000399361 162 chr11:65638717:C:T 1332_278_93_G->D 0.000199681 162 chr11:65638718:C:T 1332_277_93_G->S 0.000599042 162 chr11:65638748:G:A 1332_247_83_R->C 0.000199681 162 chr11:65638781:T:C 1332_214_72_I->V 0.000199681 162 chr11:65639462:G:A 1332_139_47_P->S 0.000399361 162 chr11:65639801:G:T 1332_25_9_P->T 0.000599042 162 na12878 Variants: 162 chr11:65636053:T:C 1332_775_259_I->V 162 snyder Variants: 162 chr11:65636053:T:C 1332_775_259_I->V 163 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000172638_ENST00000307998 gene_Name: FBLN4_HUMAN 163 list of pdbs: 163 2KL7 pdb_description: 21-Jul-09 NMR 20 Solution nmr structure of the egf-like 1 domain of human fibulin-4. Northeast structural genomics target hr6275 163 Zimmer Variants: 163 chr11:65636053:T:C 1332_775_259_I->V 163 HGMD Variants: 163 chr11:65634532:C:T 1332_1189_397_A->T 163 chr11:65635993:G:A 1332_835_279_R->C 163 chr11:65636028:C:T 1332_800_267_C->Y 163 chr11:65636047:C:T 1332_781_261_E->K 163 chr11:65637376:G:A 1332_679_227_R->C 163 chr11:65637447:T:G 1332_608_203_D->A 163 chr11:65638016:C:T 1332_481_161_E->K 163 chr11:65638120:T:A 1332_377_126_E->V 163 chr11:65638121:C:T 1332_376_126_E->K 163 chr11:65638826:C:T 1332_169_57_E->K 163 chr11:65639801:G:T 1332_25_9_P->T 163 oneKG Variants: 163 chr11:65634396:G:A 1332_1325_442_T->I 0.000199681 163 chr11:65634432:G:T 1332_1289_430_S->Y 0.000199681 163 chr11:65634445:A:G 1332_1276_426_Y->H 0.000399361 163 chr11:65634538:C:T 1332_1183_395_V->I 0.000199681 163 chr11:65635794:C:A 1332_946_316_V->L 0.000798722 163 chr11:65635812:C:T 1332_928_310_V->M 0.000998403 163 chr11:65635866:G:A 1332_874_292_H->Y 0.000199681 163 chr11:65636047:C:T 1332_781_261_E->K 0.000399361 163 chr11:65636053:T:C 1332_775_259_I->V 0.105431 163 chr11:65636058:C:T 1332_770_257_R->H 0.000199681 163 chr11:65637630:G:A 1332_569_190_P->L 0.000199681 163 chr11:65637634:C:T 1332_565_189_E->K 0.000399361 163 chr11:65638018:G:A 1332_479_160_P->L 0.000199681 163 chr11:65638031:G:A 1332_466_156_R->C 0.000399361 163 chr11:65638042:G:T 1332_455_152_P->H 0.0 163 chr11:65638075:T:A 1332_422_141_H->L 0.000399361 163 chr11:65638717:C:T 1332_278_93_G->D 0.000199681 163 chr11:65638718:C:T 1332_277_93_G->S 0.000599042 163 chr11:65638748:G:A 1332_247_83_R->C 0.000199681 163 chr11:65638781:T:C 1332_214_72_I->V 0.000199681 163 chr11:65639462:G:A 1332_139_47_P->S 0.000399361 163 chr11:65639801:G:T 1332_25_9_P->T 0.000599042 163 na12878 Variants: 163 chr11:65636053:T:C 1332_775_259_I->V 163 snyder Variants: 163 chr11:65636053:T:C 1332_775_259_I->V 164 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000173898_ENST00000533211 gene_Name: SPTN2_HUMAN 164 list of pdbs: 164 1WYQ pdb_description: 15-Aug-05 NMR 20 Solution structure of the second ch domain of human spectrin beta chain, brain 2 164 1WJM pdb_description: 29-Nov-04 NMR 20 Solution structure of pleckstrin homology domain of human beta iii spectrin. 164 Zimmer Variants: 164 chr11:66468469:A:G 7173_3101_1034_V->A 164 chr11:66472274:T:C 7173_2473_825_S->G 164 HGMD Variants: 164 chr11:66472866:G:T 7173_1881_627_C->* 164 chr11:66472288:G:A 7173_2459_820_T->M 164 chr11:66472586:G:T 7173_2161_721_R->S 164 chr11:66475202:G:A 7173_1438_480_R->W 164 chr11:66475225:G:A 7173_1415_472_T->M 164 chr11:66481116:A:G 7173_758_253_L->P 164 oneKG Variants: 164 chr11:66453379:C:T 7173_7136_2379_R->Q 0.000199681 164 chr11:66453450:C:T 7173_7065_2355_M->I 0.000199681 164 chr11:66453463:C:T 7173_7052_2351_R->Q 0.000199681 164 chr11:66453496:G:A 7173_7019_2340_P->L 0.000199681 164 chr11:66453550:A:G 7173_6965_2322_V->A 0.000199681 164 chr11:66453575:C:T 7173_6940_2314_A->T 0.000199681 164 chr11:66454492:C:T 7173_6869_2290_R->Q 0.000199681 164 chr11:66454562:C:T 7173_6799_2267_G->R 0.000199681 164 chr11:66454564:G:A 7173_6797_2266_A->V 0.000199681 164 chr11:66454595:C:T 7173_6766_2256_G->S 0.000199681 164 chr11:66454606:C:A 7173_6755_2252_R->L 0.0 164 chr11:66454610:G:A 7173_6751_2251_R->W 0.00119808 164 chr11:66454622:A:G 7173_6739_2247_Y->H 0.000199681 164 chr11:66454971:C:T 7173_6649_2217_A->T 0.000199681 164 chr11:66454974:A:G 7173_6646_2216_S->P 0.000199681 164 chr11:66455066:C:T 7173_6554_2185_R->Q 0.000599042 164 chr11:66455079:C:T 7173_6541_2181_E->K 0.000399361 164 chr11:66455082:C:G 7173_6538_2180_G->R 0.000199681 164 chr11:66455093:T:C 7173_6527_2176_N->S 0.000798722 164 chr11:66455096:G:A 7173_6524_2175_A->V 0.000199681 164 chr11:66455379:C:G 7173_6461_2154_G->A 0.000199681 164 chr11:66455389:G:C 7173_6451_2151_P->A 0.000199681 164 chr11:66455540:G:A 7173_6385_2129_R->W 0.000399361 164 chr11:66455671:C:T 7173_6343_2115_G->S 0.000199681 164 chr11:66455724:T:C 7173_6290_2097_Q->R 0.000199681 164 chr11:66455742:T:A 7173_6272_2091_E->V 0.000199681 164 chr11:66455748:C:T 7173_6266_2089_R->K 0.000399361 164 chr11:66455760:C:T 7173_6254_2085_R->Q 0.000199681 164 chr11:66456135:T:G 7173_6220_2074_K->Q 0.000199681 164 chr11:66456224:G:A 7173_6131_2044_T->M 0.000199681 164 chr11:66456617:C:T 7173_5984_1995_R->H 0.000798722 164 chr11:66456621:G:A 7173_5980_1994_R->W 0.00139776 164 chr11:66457278:C:G 7173_5947_1983_E->Q 0.000199681 164 chr11:66457318:C:G 7173_5907_1969_M->I 0.000199681 164 chr11:66457323:C:T 7173_5902_1968_D->N 0.000199681 164 chr11:66457517:G:A 7173_5803_1935_R->C 0.000199681 164 chr11:66457584:G:C 7173_5736_1912_F->L 0.000998403 164 chr11:66457651:G:C 7173_5669_1890_A->G 0.000199681 164 chr11:66457681:C:T 7173_5639_1880_R->H 0.00978435 164 chr11:66457712:A:G 7173_5608_1870_Y->H 0.000199681 164 chr11:66458900:A:C 7173_5420_1807_L->R 0.000199681 164 chr11:66458907:G:A 7173_5413_1805_R->C 0.000599042 164 chr11:66458981:T:C 7173_5339_1780_N->S 0.000199681 164 chr11:66459006:C:T 7173_5314_1772_V->M 0.00119808 164 chr11:66459014:C:T 7173_5306_1769_R->Q 0.000199681 164 chr11:66459036:T:C 7173_5284_1762_I->V 0.000399361 164 chr11:66459098:C:T 7173_5222_1741_R->Q 0.000199681 164 chr11:66460057:C:T 7173_5140_1714_E->K 0.000199681 164 chr11:66460113:C:T 7173_5084_1695_R->Q 0.000199681 164 chr11:66460120:G:A 7173_5077_1693_H->Y 0.000199681 164 chr11:66460141:G:A 7173_5056_1686_R->W 0.00259585 164 chr11:66460483:G:A 7173_4943_1648_A->V 0.000199681 164 chr11:66460505:C:T 7173_4921_1641_A->T 0.00179712 164 chr11:66460728:G:A 7173_4783_1595_R->C 0.000199681 164 chr11:66460790:C:T 7173_4721_1574_G->D 0.000199681 164 chr11:66460826:T:C 7173_4685_1562_E->G 0.000199681 164 chr11:66460844:G:A 7173_4667_1556_A->V 0.000798722 164 chr11:66460856:C:T 7173_4655_1552_R->H 0.000399361 164 chr11:66460857:G:A 7173_4654_1552_R->C 0.000199681 164 chr11:66460873:G:T 7173_4638_1546_D->E 0.000199681 164 chr11:66461665:C:T 7173_4448_1483_R->H 0.000199681 164 chr11:66461666:G:A 7173_4447_1483_R->C 0.00419329 164 chr11:66461695:A:G 7173_4418_1473_L->S 0.000399361 164 chr11:66461739:C:A 7173_4374_1458_E->D 0.000199681 164 chr11:66463835:G:T 7173_4191_1397_S->R 0.000199681 164 chr11:66463875:C:T 7173_4151_1384_R->Q 0.000199681 164 chr11:66463980:T:G 7173_4046_1349_E->A 0.000199681 164 chr11:66466115:C:G 7173_4009_1337_D->H 0.000199681 164 chr11:66466507:G:A 7173_3823_1275_R->W 0.000199681 164 chr11:66466512:C:T 7173_3818_1273_R->H 0.000199681 164 chr11:66466513:G:A 7173_3817_1273_R->C 0.000199681 164 chr11:66466530:G:A 7173_3800_1267_A->V 0.000798722 164 chr11:66466534:C:T 7173_3796_1266_A->T 0.000199681 164 chr11:66466931:T:C 7173_3722_1241_E->G 0.000199681 164 chr11:66466947:G:A 7173_3706_1236_R->C 0.000199681 164 chr11:66466967:T:C 7173_3686_1229_H->R 0.00958466 164 chr11:66468070:C:T 7173_3500_1167_R->H 0.000199681 164 chr11:66468094:C:T 7173_3476_1159_R->Q 0.000199681 164 chr11:66468139:C:T 7173_3431_1144_R->Q 0.000199681 164 chr11:66468173:G:A 7173_3397_1133_R->W 0.000199681 164 chr11:66468196:C:T 7173_3374_1125_R->Q 0.000399361 164 chr11:66468202:C:T 7173_3368_1123_R->Q 0.000399361 164 chr11:66468223:C:T 7173_3347_1116_R->Q 0.000199681 164 chr11:66468373:C:T 7173_3197_1066_R->Q 0.000199681 164 chr11:66468406:C:T 7173_3164_1055_R->Q 0.000199681 164 chr11:66468407:G:A 7173_3163_1055_R->W 0.000199681 164 chr11:66468454:C:T 7173_3116_1039_R->Q 0.000599042 164 chr11:66468458:C:T 7173_3112_1038_A->T 0.000199681 164 chr11:66468469:A:G 7173_3101_1034_V->A 0.205671 164 chr11:66468736:C:T 7173_2834_945_R->H 0.000199681 164 chr11:66468737:G:A 7173_2833_945_R->C 0.000199681 164 chr11:66472111:G:A 7173_2636_879_A->V 0.000199681 164 chr11:66472244:C:T 7173_2503_835_E->K 0.00179712 164 chr11:66472253:G:A 7173_2494_832_R->W 0.000199681 164 chr11:66472274:T:C 7173_2473_825_S->G 0.012181 164 chr11:66472375:G:T 7173_2372_791_A->D 0.000199681 164 chr11:66472522:C:T 7173_2225_742_R->Q 0.000199681 164 chr11:66472531:C:A 7173_2216_739_R->L 0.000199681 164 chr11:66472532:G:A 7173_2215_739_R->C 0.000199681 164 chr11:66472775:G:A 7173_1972_658_R->W 0.00179712 164 chr11:66472825:C:T 7173_1922_641_R->Q 0.000199681 164 chr11:66472840:C:T 7173_1907_636_R->Q 0.000599042 164 chr11:66472843:G:A 7173_1904_635_A->V 0.000399361 164 chr11:66472855:G:A 7173_1892_631_A->V 0.000599042 164 chr11:66472862:A:C 7173_1885_629_L->V 0.000199681 164 chr11:66473176:G:A 7173_1786_596_R->C 0.000199681 164 chr11:66473209:C:T 7173_1753_585_E->K 0.000199681 164 chr11:66473242:C:T 7173_1720_574_E->K 0.000199681 164 chr11:66473305:G:A 7173_1657_553_R->W 0.000599042 164 chr11:66475066:T:A 7173_1574_525_E->V 0.000399361 164 chr11:66475130:C:T 7173_1510_504_A->T 0.000199681 164 chr11:66475158:C:A 7173_1482_494_E->D 0.000399361 164 chr11:66475184:C:T 7173_1456_486_A->T 0.000399361 164 chr11:66475225:G:A 7173_1415_472_T->M 0.000199681 164 chr11:66475283:A:G 7173_1357_453_F->L 0.000199681 164 chr11:66475626:G:A 7173_1336_446_R->C 0.000199681 164 chr11:66478053:T:G 7173_1073_358_K->T 0.000199681 164 chr11:66478074:C:T 7173_1052_351_R->H 0.000199681 164 chr11:66478158:T:C 7173_968_323_Q->R 0.000199681 164 chr11:66478202:C:G 7173_924_308_E->D 0.000399361 164 chr11:66478458:T:C 7173_815_272_Y->C 0.000199681 164 chr11:66481616:A:T 7173_602_201_F->Y 0.000199681 164 chr11:66481628:T:C 7173_590_197_N->S 0.000199681 164 chr11:66482815:T:G 7173_361_121_K->Q 0.000199681 164 chr11:66483331:C:G 7173_279_93_R->S 0.000199681 164 chr11:66483380:C:T 7173_230_77_R->Q 0.000199681 164 chr11:66483381:G:A 7173_229_77_R->W 0.000199681 164 chr11:66488590:C:T 7173_122_41_R->H 0.000199681 164 na12878 Variants: 164 chr11:66472274:T:C 7173_2473_825_S->G 164 snyder Variants: 164 chr11:66472274:T:C 7173_2473_825_S->G 165 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000173898_ENST00000309996 gene_Name: SPTN2_HUMAN 165 list of pdbs: 165 1WYQ pdb_description: 15-Aug-05 NMR 20 Solution structure of the second ch domain of human spectrin beta chain, brain 2 165 1WJM pdb_description: 29-Nov-04 NMR 20 Solution structure of pleckstrin homology domain of human beta iii spectrin. 165 Zimmer Variants: 165 chr11:66468469:A:G 7173_3101_1034_V->A 165 chr11:66472274:T:C 7173_2473_825_S->G 165 HGMD Variants: 165 chr11:66472866:G:T 7173_1881_627_C->* 165 chr11:66472288:G:A 7173_2459_820_T->M 165 chr11:66472586:G:T 7173_2161_721_R->S 165 chr11:66475202:G:A 7173_1438_480_R->W 165 chr11:66475225:G:A 7173_1415_472_T->M 165 chr11:66481116:A:G 7173_758_253_L->P 165 oneKG Variants: 165 chr11:66453379:C:T 7173_7136_2379_R->Q 0.000199681 165 chr11:66453450:C:T 7173_7065_2355_M->I 0.000199681 165 chr11:66453463:C:T 7173_7052_2351_R->Q 0.000199681 165 chr11:66453496:G:A 7173_7019_2340_P->L 0.000199681 165 chr11:66453550:A:G 7173_6965_2322_V->A 0.000199681 165 chr11:66453575:C:T 7173_6940_2314_A->T 0.000199681 165 chr11:66454492:C:T 7173_6869_2290_R->Q 0.000199681 165 chr11:66454562:C:T 7173_6799_2267_G->R 0.000199681 165 chr11:66454564:G:A 7173_6797_2266_A->V 0.000199681 165 chr11:66454595:C:T 7173_6766_2256_G->S 0.000199681 165 chr11:66454606:C:A 7173_6755_2252_R->L 0.0 165 chr11:66454610:G:A 7173_6751_2251_R->W 0.00119808 165 chr11:66454622:A:G 7173_6739_2247_Y->H 0.000199681 165 chr11:66454971:C:T 7173_6649_2217_A->T 0.000199681 165 chr11:66454974:A:G 7173_6646_2216_S->P 0.000199681 165 chr11:66455066:C:T 7173_6554_2185_R->Q 0.000599042 165 chr11:66455079:C:T 7173_6541_2181_E->K 0.000399361 165 chr11:66455082:C:G 7173_6538_2180_G->R 0.000199681 165 chr11:66455093:T:C 7173_6527_2176_N->S 0.000798722 165 chr11:66455096:G:A 7173_6524_2175_A->V 0.000199681 165 chr11:66455379:C:G 7173_6461_2154_G->A 0.000199681 165 chr11:66455389:G:C 7173_6451_2151_P->A 0.000199681 165 chr11:66455540:G:A 7173_6385_2129_R->W 0.000399361 165 chr11:66455671:C:T 7173_6343_2115_G->S 0.000199681 165 chr11:66455724:T:C 7173_6290_2097_Q->R 0.000199681 165 chr11:66455742:T:A 7173_6272_2091_E->V 0.000199681 165 chr11:66455748:C:T 7173_6266_2089_R->K 0.000399361 165 chr11:66455760:C:T 7173_6254_2085_R->Q 0.000199681 165 chr11:66456135:T:G 7173_6220_2074_K->Q 0.000199681 165 chr11:66456224:G:A 7173_6131_2044_T->M 0.000199681 165 chr11:66456617:C:T 7173_5984_1995_R->H 0.000798722 165 chr11:66456621:G:A 7173_5980_1994_R->W 0.00139776 165 chr11:66457278:C:G 7173_5947_1983_E->Q 0.000199681 165 chr11:66457318:C:G 7173_5907_1969_M->I 0.000199681 165 chr11:66457323:C:T 7173_5902_1968_D->N 0.000199681 165 chr11:66457517:G:A 7173_5803_1935_R->C 0.000199681 165 chr11:66457584:G:C 7173_5736_1912_F->L 0.000998403 165 chr11:66457651:G:C 7173_5669_1890_A->G 0.000199681 165 chr11:66457681:C:T 7173_5639_1880_R->H 0.00978435 165 chr11:66457712:A:G 7173_5608_1870_Y->H 0.000199681 165 chr11:66458900:A:C 7173_5420_1807_L->R 0.000199681 165 chr11:66458907:G:A 7173_5413_1805_R->C 0.000599042 165 chr11:66458981:T:C 7173_5339_1780_N->S 0.000199681 165 chr11:66459006:C:T 7173_5314_1772_V->M 0.00119808 165 chr11:66459014:C:T 7173_5306_1769_R->Q 0.000199681 165 chr11:66459036:T:C 7173_5284_1762_I->V 0.000399361 165 chr11:66459098:C:T 7173_5222_1741_R->Q 0.000199681 165 chr11:66460057:C:T 7173_5140_1714_E->K 0.000199681 165 chr11:66460113:C:T 7173_5084_1695_R->Q 0.000199681 165 chr11:66460120:G:A 7173_5077_1693_H->Y 0.000199681 165 chr11:66460141:G:A 7173_5056_1686_R->W 0.00259585 165 chr11:66460483:G:A 7173_4943_1648_A->V 0.000199681 165 chr11:66460505:C:T 7173_4921_1641_A->T 0.00179712 165 chr11:66460728:G:A 7173_4783_1595_R->C 0.000199681 165 chr11:66460790:C:T 7173_4721_1574_G->D 0.000199681 165 chr11:66460826:T:C 7173_4685_1562_E->G 0.000199681 165 chr11:66460844:G:A 7173_4667_1556_A->V 0.000798722 165 chr11:66460856:C:T 7173_4655_1552_R->H 0.000399361 165 chr11:66460857:G:A 7173_4654_1552_R->C 0.000199681 165 chr11:66460873:G:T 7173_4638_1546_D->E 0.000199681 165 chr11:66461665:C:T 7173_4448_1483_R->H 0.000199681 165 chr11:66461666:G:A 7173_4447_1483_R->C 0.00419329 165 chr11:66461695:A:G 7173_4418_1473_L->S 0.000399361 165 chr11:66461739:C:A 7173_4374_1458_E->D 0.000199681 165 chr11:66463835:G:T 7173_4191_1397_S->R 0.000199681 165 chr11:66463875:C:T 7173_4151_1384_R->Q 0.000199681 165 chr11:66463980:T:G 7173_4046_1349_E->A 0.000199681 165 chr11:66466115:C:G 7173_4009_1337_D->H 0.000199681 165 chr11:66466507:G:A 7173_3823_1275_R->W 0.000199681 165 chr11:66466512:C:T 7173_3818_1273_R->H 0.000199681 165 chr11:66466513:G:A 7173_3817_1273_R->C 0.000199681 165 chr11:66466530:G:A 7173_3800_1267_A->V 0.000798722 165 chr11:66466534:C:T 7173_3796_1266_A->T 0.000199681 165 chr11:66466931:T:C 7173_3722_1241_E->G 0.000199681 165 chr11:66466947:G:A 7173_3706_1236_R->C 0.000199681 165 chr11:66466967:T:C 7173_3686_1229_H->R 0.00958466 165 chr11:66468070:C:T 7173_3500_1167_R->H 0.000199681 165 chr11:66468094:C:T 7173_3476_1159_R->Q 0.000199681 165 chr11:66468139:C:T 7173_3431_1144_R->Q 0.000199681 165 chr11:66468173:G:A 7173_3397_1133_R->W 0.000199681 165 chr11:66468196:C:T 7173_3374_1125_R->Q 0.000399361 165 chr11:66468202:C:T 7173_3368_1123_R->Q 0.000399361 165 chr11:66468223:C:T 7173_3347_1116_R->Q 0.000199681 165 chr11:66468373:C:T 7173_3197_1066_R->Q 0.000199681 165 chr11:66468406:C:T 7173_3164_1055_R->Q 0.000199681 165 chr11:66468407:G:A 7173_3163_1055_R->W 0.000199681 165 chr11:66468454:C:T 7173_3116_1039_R->Q 0.000599042 165 chr11:66468458:C:T 7173_3112_1038_A->T 0.000199681 165 chr11:66468469:A:G 7173_3101_1034_V->A 0.205671 165 chr11:66468736:C:T 7173_2834_945_R->H 0.000199681 165 chr11:66468737:G:A 7173_2833_945_R->C 0.000199681 165 chr11:66472111:G:A 7173_2636_879_A->V 0.000199681 165 chr11:66472244:C:T 7173_2503_835_E->K 0.00179712 165 chr11:66472253:G:A 7173_2494_832_R->W 0.000199681 165 chr11:66472274:T:C 7173_2473_825_S->G 0.012181 165 chr11:66472375:G:T 7173_2372_791_A->D 0.000199681 165 chr11:66472522:C:T 7173_2225_742_R->Q 0.000199681 165 chr11:66472531:C:A 7173_2216_739_R->L 0.000199681 165 chr11:66472532:G:A 7173_2215_739_R->C 0.000199681 165 chr11:66472775:G:A 7173_1972_658_R->W 0.00179712 165 chr11:66472825:C:T 7173_1922_641_R->Q 0.000199681 165 chr11:66472840:C:T 7173_1907_636_R->Q 0.000599042 165 chr11:66472843:G:A 7173_1904_635_A->V 0.000399361 165 chr11:66472855:G:A 7173_1892_631_A->V 0.000599042 165 chr11:66472862:A:C 7173_1885_629_L->V 0.000199681 165 chr11:66473176:G:A 7173_1786_596_R->C 0.000199681 165 chr11:66473209:C:T 7173_1753_585_E->K 0.000199681 165 chr11:66473242:C:T 7173_1720_574_E->K 0.000199681 165 chr11:66473305:G:A 7173_1657_553_R->W 0.000599042 165 chr11:66475066:T:A 7173_1574_525_E->V 0.000399361 165 chr11:66475130:C:T 7173_1510_504_A->T 0.000199681 165 chr11:66475158:C:A 7173_1482_494_E->D 0.000399361 165 chr11:66475184:C:T 7173_1456_486_A->T 0.000399361 165 chr11:66475225:G:A 7173_1415_472_T->M 0.000199681 165 chr11:66475283:A:G 7173_1357_453_F->L 0.000199681 165 chr11:66475626:G:A 7173_1336_446_R->C 0.000199681 165 chr11:66478053:T:G 7173_1073_358_K->T 0.000199681 165 chr11:66478074:C:T 7173_1052_351_R->H 0.000199681 165 chr11:66478158:T:C 7173_968_323_Q->R 0.000199681 165 chr11:66478202:C:G 7173_924_308_E->D 0.000399361 165 chr11:66478458:T:C 7173_815_272_Y->C 0.000199681 165 chr11:66481616:A:T 7173_602_201_F->Y 0.000199681 165 chr11:66481628:T:C 7173_590_197_N->S 0.000199681 165 chr11:66482815:T:G 7173_361_121_K->Q 0.000199681 165 chr11:66483331:C:G 7173_279_93_R->S 0.000199681 165 chr11:66483380:C:T 7173_230_77_R->Q 0.000199681 165 chr11:66483381:G:A 7173_229_77_R->W 0.000199681 165 chr11:66488590:C:T 7173_122_41_R->H 0.000199681 165 na12878 Variants: 165 chr11:66472274:T:C 7173_2473_825_S->G 165 snyder Variants: 165 chr11:66472274:T:C 7173_2473_825_S->G 166 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000173898_ENST00000529997 gene_Name: SPTN2_HUMAN 166 list of pdbs: 166 1WYQ pdb_description: 15-Aug-05 NMR 20 Solution structure of the second ch domain of human spectrin beta chain, brain 2 166 1WJM pdb_description: 29-Nov-04 NMR 20 Solution structure of pleckstrin homology domain of human beta iii spectrin. 166 Zimmer Variants: 166 chr11:66468469:A:G 7098_3101_1034_V->A;GNEG=Yes;GENE=SPTBN2;CDSS=3;DBRECUR=SPTBN2 166 chr11:66472274:T:C 7098_2473_825_S->G;GNEG=Yes;GENE=SPTBN2;CDSS=3;DBRECUR=SPTBN2 166 HGMD Variants: 166 chr11:66472866:G:T 7098_1881_627_C->* 166 chr11:66472288:G:A 7098_2459_820_T->M 166 chr11:66472586:G:T 7098_2161_721_R->S 166 chr11:66475202:G:A 7098_1438_480_R->W 166 chr11:66475225:G:A 7098_1415_472_T->M 166 chr11:66481116:A:G 7098_758_253_L->P 166 oneKG Variants: 166 chr11:66453741:C:T 7098_7067_2356_R->Q 0.000599042 166 chr11:66453757:T:C 7098_7051_2351_K->E 0.000199681 166 chr11:66453798:A:T 7098_7010_2337_F->Y 0.000199681 166 chr11:66453805:G:A 7098_7003_2335_P->S 0.000399361 166 chr11:66453826:T:C 7098_6982_2328_K->E 0.000399361 166 chr11:66454492:C:T 7098_6869_2290_R->Q 0.000199681 166 chr11:66454562:C:T 7098_6799_2267_G->R 0.000199681 166 chr11:66454564:G:A 7098_6797_2266_A->V 0.000199681 166 chr11:66454595:C:T 7098_6766_2256_G->S 0.000199681 166 chr11:66454606:C:A 7098_6755_2252_R->L 0.0 166 chr11:66454610:G:A 7098_6751_2251_R->W 0.00119808 166 chr11:66454622:A:G 7098_6739_2247_Y->H 0.000199681 166 chr11:66454971:C:T 7098_6649_2217_A->T 0.000199681 166 chr11:66454974:A:G 7098_6646_2216_S->P 0.000199681 166 chr11:66455066:C:T 7098_6554_2185_R->Q 0.000599042 166 chr11:66455079:C:T 7098_6541_2181_E->K 0.000399361 166 chr11:66455082:C:G 7098_6538_2180_G->R 0.000199681 166 chr11:66455093:T:C 7098_6527_2176_N->S 0.000798722 166 chr11:66455096:G:A 7098_6524_2175_A->V 0.000199681 166 chr11:66455379:C:G 7098_6461_2154_G->A 0.000199681 166 chr11:66455389:G:C 7098_6451_2151_P->A 0.000199681 166 chr11:66455540:G:A 7098_6385_2129_R->W 0.000399361 166 chr11:66455671:C:T 7098_6343_2115_G->S 0.000199681 166 chr11:66455724:T:C 7098_6290_2097_Q->R 0.000199681 166 chr11:66455742:T:A 7098_6272_2091_E->V 0.000199681 166 chr11:66455748:C:T 7098_6266_2089_R->K 0.000399361 166 chr11:66455760:C:T 7098_6254_2085_R->Q 0.000199681 166 chr11:66456135:T:G 7098_6220_2074_K->Q 0.000199681 166 chr11:66456224:G:A 7098_6131_2044_T->M 0.000199681 166 chr11:66456617:C:T 7098_5984_1995_R->H 0.000798722 166 chr11:66456621:G:A 7098_5980_1994_R->W 0.00139776 166 chr11:66457278:C:G 7098_5947_1983_E->Q 0.000199681 166 chr11:66457318:C:G 7098_5907_1969_M->I 0.000199681 166 chr11:66457323:C:T 7098_5902_1968_D->N 0.000199681 166 chr11:66457517:G:A 7098_5803_1935_R->C 0.000199681 166 chr11:66457584:G:C 7098_5736_1912_F->L 0.000998403 166 chr11:66457651:G:C 7098_5669_1890_A->G 0.000199681 166 chr11:66457681:C:T 7098_5639_1880_R->H 0.00978435 166 chr11:66457712:A:G 7098_5608_1870_Y->H 0.000199681 166 chr11:66458900:A:C 7098_5420_1807_L->R 0.000199681 166 chr11:66458907:G:A 7098_5413_1805_R->C 0.000599042 166 chr11:66458981:T:C 7098_5339_1780_N->S 0.000199681 166 chr11:66459006:C:T 7098_5314_1772_V->M 0.00119808 166 chr11:66459014:C:T 7098_5306_1769_R->Q 0.000199681 166 chr11:66459036:T:C 7098_5284_1762_I->V 0.000399361 166 chr11:66459098:C:T 7098_5222_1741_R->Q 0.000199681 166 chr11:66460057:C:T 7098_5140_1714_E->K 0.000199681 166 chr11:66460113:C:T 7098_5084_1695_R->Q 0.000199681 166 chr11:66460120:G:A 7098_5077_1693_H->Y 0.000199681 166 chr11:66460141:G:A 7098_5056_1686_R->W 0.00259585 166 chr11:66460483:G:A 7098_4943_1648_A->V 0.000199681 166 chr11:66460505:C:T 7098_4921_1641_A->T 0.00179712 166 chr11:66460728:G:A 7098_4783_1595_R->C 0.000199681 166 chr11:66460790:C:T 7098_4721_1574_G->D 0.000199681 166 chr11:66460826:T:C 7098_4685_1562_E->G 0.000199681 166 chr11:66460844:G:A 7098_4667_1556_A->V 0.000798722 166 chr11:66460856:C:T 7098_4655_1552_R->H 0.000399361 166 chr11:66460857:G:A 7098_4654_1552_R->C 0.000199681 166 chr11:66460873:G:T 7098_4638_1546_D->E 0.000199681 166 chr11:66461665:C:T 7098_4448_1483_R->H 0.000199681 166 chr11:66461666:G:A 7098_4447_1483_R->C 0.00419329 166 chr11:66461695:A:G 7098_4418_1473_L->S 0.000399361 166 chr11:66461739:C:A 7098_4374_1458_E->D 0.000199681 166 chr11:66463835:G:T 7098_4191_1397_S->R 0.000199681 166 chr11:66463875:C:T 7098_4151_1384_R->Q 0.000199681 166 chr11:66463980:T:G 7098_4046_1349_E->A 0.000199681 166 chr11:66466115:C:G 7098_4009_1337_D->H 0.000199681 166 chr11:66466507:G:A 7098_3823_1275_R->W 0.000199681 166 chr11:66466512:C:T 7098_3818_1273_R->H 0.000199681 166 chr11:66466513:G:A 7098_3817_1273_R->C 0.000199681 166 chr11:66466530:G:A 7098_3800_1267_A->V 0.000798722 166 chr11:66466534:C:T 7098_3796_1266_A->T 0.000199681 166 chr11:66466931:T:C 7098_3722_1241_E->G 0.000199681 166 chr11:66466947:G:A 7098_3706_1236_R->C 0.000199681 166 chr11:66466967:T:C 7098_3686_1229_H->R 0.00958466 166 chr11:66468070:C:T 7098_3500_1167_R->H 0.000199681 166 chr11:66468094:C:T 7098_3476_1159_R->Q 0.000199681 166 chr11:66468139:C:T 7098_3431_1144_R->Q 0.000199681 166 chr11:66468173:G:A 7098_3397_1133_R->W 0.000199681 166 chr11:66468196:C:T 7098_3374_1125_R->Q 0.000399361 166 chr11:66468202:C:T 7098_3368_1123_R->Q 0.000399361 166 chr11:66468223:C:T 7098_3347_1116_R->Q 0.000199681 166 chr11:66468373:C:T 7098_3197_1066_R->Q 0.000199681 166 chr11:66468406:C:T 7098_3164_1055_R->Q 0.000199681 166 chr11:66468407:G:A 7098_3163_1055_R->W 0.000199681 166 chr11:66468454:C:T 7098_3116_1039_R->Q 0.000599042 166 chr11:66468458:C:T 7098_3112_1038_A->T 0.000199681 166 chr11:66468469:A:G 7098_3101_1034_V->A 0.205671 166 chr11:66468736:C:T 7098_2834_945_R->H 0.000199681 166 chr11:66468737:G:A 7098_2833_945_R->C 0.000199681 166 chr11:66472111:G:A 7098_2636_879_A->V 0.000199681 166 chr11:66472244:C:T 7098_2503_835_E->K 0.00179712 166 chr11:66472253:G:A 7098_2494_832_R->W 0.000199681 166 chr11:66472274:T:C 7098_2473_825_S->G 0.012181 166 chr11:66472375:G:T 7098_2372_791_A->D 0.000199681 166 chr11:66472522:C:T 7098_2225_742_R->Q 0.000199681 166 chr11:66472531:C:A 7098_2216_739_R->L 0.000199681 166 chr11:66472532:G:A 7098_2215_739_R->C 0.000199681 166 chr11:66472775:G:A 7098_1972_658_R->W 0.00179712 166 chr11:66472825:C:T 7098_1922_641_R->Q 0.000199681 166 chr11:66472840:C:T 7098_1907_636_R->Q 0.000599042 166 chr11:66472843:G:A 7098_1904_635_A->V 0.000399361 166 chr11:66472855:G:A 7098_1892_631_A->V 0.000599042 166 chr11:66472862:A:C 7098_1885_629_L->V 0.000199681 166 chr11:66473176:G:A 7098_1786_596_R->C 0.000199681 166 chr11:66473209:C:T 7098_1753_585_E->K 0.000199681 166 chr11:66473242:C:T 7098_1720_574_E->K 0.000199681 166 chr11:66473305:G:A 7098_1657_553_R->W 0.000599042 166 chr11:66475066:T:A 7098_1574_525_E->V 0.000399361 166 chr11:66475130:C:T 7098_1510_504_A->T 0.000199681 166 chr11:66475158:C:A 7098_1482_494_E->D 0.000399361 166 chr11:66475184:C:T 7098_1456_486_A->T 0.000399361 166 chr11:66475225:G:A 7098_1415_472_T->M 0.000199681 166 chr11:66475283:A:G 7098_1357_453_F->L 0.000199681 166 chr11:66475626:G:A 7098_1336_446_R->C 0.000199681 166 chr11:66478053:T:G 7098_1073_358_K->T 0.000199681 166 chr11:66478074:C:T 7098_1052_351_R->H 0.000199681 166 chr11:66478158:T:C 7098_968_323_Q->R 0.000199681 166 chr11:66478202:C:G 7098_924_308_E->D 0.000399361 166 chr11:66478458:T:C 7098_815_272_Y->C 0.000199681 166 chr11:66481616:A:T 7098_602_201_F->Y 0.000199681 166 chr11:66481628:T:C 7098_590_197_N->S 0.000199681 166 chr11:66482815:T:G 7098_361_121_K->Q 0.000199681 166 chr11:66483331:C:G 7098_279_93_R->S 0.000199681 166 chr11:66483380:C:T 7098_230_77_R->Q 0.000199681 166 chr11:66483381:G:A 7098_229_77_R->W 0.000199681 166 chr11:66488590:C:T 7098_122_41_R->H 0.000199681 166 na12878 Variants: 166 chr11:66472274:T:C 7098_2473_825_S->G 166 snyder Variants: 166 chr11:66472274:T:C 7098_2473_825_S->G 167 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110066_ENST00000304363 gene_Name: SV421_HUMAN 167 list of pdbs: 167 3S8P pdb_description: 06-Jul-11 X-ray 1.850 Crystal structure of the set domain of human histone-lysine methyltransferase suv420h1 in complex with s-adenosyl-l-met 167 Zimmer Variants: 167 chr11:67957518:A:T 2658_26_9_I->N 167 HGMD Variants: 167 chr11:67926275:G:A 2658_1538_513_A->V 167 chr11:67939039:C:G 2658_791_264_W->S 167 chr11:67942601:G:A 2658_427_143_R->C 167 oneKG Variants: 167 chr11:67925546:T:C 2658_2267_756_N->S 0.000599042 167 chr11:67925586:T:C 2658_2227_743_I->V 0.000199681 167 chr11:67925828:G:A 2658_1985_662_P->L 0.000199681 167 chr11:67925891:G:A 2658_1922_641_A->V 0.000199681 167 chr11:67925892:C:T 2658_1921_641_A->T 0.000199681 167 chr11:67925913:C:T 2658_1900_634_D->N 0.000599042 167 chr11:67926027:G:C 2658_1786_596_Q->E 0.000399361 167 chr11:67926093:C:T 2658_1720_574_D->N 0.00179712 167 chr11:67926194:C:T 2658_1619_540_R->Q 0.000599042 167 chr11:67926218:G:A 2658_1595_532_S->L 0.00279553 167 chr11:67926233:G:A 2658_1580_527_S->L 0.000798722 167 chr11:67926251:G:A 2658_1562_521_P->L 0.000599042 167 chr11:67926272:G:A 2658_1541_514_A->V 0.000199681 167 chr11:67926306:C:T 2658_1507_503_A->T 0.000199681 167 chr11:67926418:A:C 2658_1395_465_N->K 0.000199681 167 chr11:67926515:T:C 2658_1298_433_N->S 0.000399361 167 chr11:67926548:G:C 2658_1265_422_S->C 0.000199681 167 chr11:67926587:G:A 2658_1226_409_T->M 0.000199681 167 chr11:67926612:C:T 2658_1201_401_V->I 0.000199681 167 chr11:67934478:G:A 2658_1145_382_A->V 0.000199681 167 chr11:67934608:G:A 2658_1015_339_P->S 0.000199681 167 chr11:67957408:C:T 2658_136_46_A->T 0.000798722 167 chr11:67957440:G:A 2658_104_35_T->M 0.000199681 167 chr11:67957518:A:T 2658_26_9_I->N 0.0 167 na12878 Variants: 167 chr11:67957518:A:T 2658_26_9_I->N 167 snyder Variants: 167 chr11:67957518:A:T 2658_26_9_I->N 168 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110066_ENST00000441488 gene_Name: SV421_HUMAN 168 list of pdbs: 168 3S8P pdb_description: 06-Jul-11 X-ray 1.850 Crystal structure of the set domain of human histone-lysine methyltransferase suv420h1 in complex with s-adenosyl-l-met 168 Zimmer Variants: 168 chr11:67957518:A:T 837_26_9_I->N 168 HGMD Variants: 168 chr11:67939039:C:G 837_791_264_W->S 168 chr11:67942601:G:A 837_427_143_R->C 168 oneKG Variants: 168 chr11:67957408:C:T 837_136_46_A->T 0.000798722 168 chr11:67957440:G:A 837_104_35_T->M 0.000199681 168 chr11:67957518:A:T 837_26_9_I->N 0.0 168 na12878 Variants: 168 chr11:67957518:A:T 837_26_9_I->N 168 snyder Variants: 168 chr11:67957518:A:T 837_26_9_I->N 169 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110066_ENST00000401547 gene_Name: SV421_HUMAN 169 list of pdbs: 169 3S8P pdb_description: 06-Jul-11 X-ray 1.850 Crystal structure of the set domain of human histone-lysine methyltransferase suv420h1 in complex with s-adenosyl-l-met 169 Zimmer Variants: 169 chr11:67957518:A:T 1182_26_9_I->N 169 HGMD Variants: 169 chr11:67939039:C:G 1182_791_264_W->S 169 chr11:67942601:G:A 1182_427_143_R->C 169 oneKG Variants: 169 chr11:67934478:G:A 1182_1145_382_A->V 0.000199681 169 chr11:67934608:G:A 1182_1015_339_P->S 0.000199681 169 chr11:67957408:C:T 1182_136_46_A->T 0.000798722 169 chr11:67957440:G:A 1182_104_35_T->M 0.000199681 169 chr11:67957518:A:T 1182_26_9_I->N 0.0 169 na12878 Variants: 169 chr11:67957518:A:T 1182_26_9_I->N 169 snyder Variants: 169 chr11:67957518:A:T 1182_26_9_I->N 170 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110066_ENST00000405515 gene_Name: SV421_HUMAN 170 list of pdbs: 170 3S8P pdb_description: 06-Jul-11 X-ray 1.850 Crystal structure of the set domain of human histone-lysine methyltransferase suv420h1 in complex with s-adenosyl-l-met 170 Zimmer Variants: 170 chr11:67957518:A:T 1182_26_9_I->N 170 HGMD Variants: 170 chr11:67939039:C:G 1182_791_264_W->S 170 chr11:67942601:G:A 1182_427_143_R->C 170 oneKG Variants: 170 chr11:67934478:G:A 1182_1145_382_A->V 0.000199681 170 chr11:67934608:G:A 1182_1015_339_P->S 0.000199681 170 chr11:67957408:C:T 1182_136_46_A->T 0.000798722 170 chr11:67957440:G:A 1182_104_35_T->M 0.000199681 170 chr11:67957518:A:T 1182_26_9_I->N 0.0 170 na12878 Variants: 170 chr11:67957518:A:T 1182_26_9_I->N 170 snyder Variants: 170 chr11:67957518:A:T 1182_26_9_I->N 171 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000076555_ENST00000338432 gene_Name: ACACB_HUMAN 171 list of pdbs: 171 3TDC pdb_description: 12-Oct-11 X-ray 2.410 Crystal structure of human acetyl-coa carboxylase 2 171 3JRX pdb_description: 12-Jan-10 X-ray 2.500 Crystal structure of the bc domain of acc2 in complex with soraphen a 171 3JRW pdb_description: 12-Jan-10 X-ray 2.600 Phosphorylated bc domain of acc2 171 3GLK pdb_description: 24-Mar-09 X-ray 2.100 The biotin carboxylase (bc) domain of human acetyl-coa carbo (acc2) 171 3GID pdb_description: 17-Mar-09 X-ray 2.300 The biotin carboxylase (bc) domain of human acetyl-coa carbo (acc2) in complex with soraphen a 171 3FF6 pdb_description: 19-May-09 X-ray 3.190 Human acc2 ct domain with cp-640186 171 2KCC pdb_description: 17-Feb-09 NMR 20 Solution structure of biotinoyl domain from human acetyl- coa carboxylase 2 171 2HJW pdb_description: 03-Jul-07 X-ray 2.500 Crystal structure of the bc domain of acc2 171 2DN8 pdb_description: 25-Oct-06 NMR 20 Solution structure of rsgi ruh-053, an apo-biotin carboxy carrier protein from human transcarboxylase 171 Zimmer Variants: 171 chr12:109696838:G:A 7377_6421_2141_V->I 171 chr12:109692053:C:T 7377_6080_2027_T->I 171 HGMD Variants: 171 chr12:109683531:A:G 7377_5279_1760_N->S 171 chr12:109696838:G:A 7377_6421_2141_V->I 171 oneKG Variants: 171 chr12:109612005:C:T 7377_1186_396_Q->* 0.000199681 171 chr12:109660702:C:A 7377_3777_1259_C->* 0.000199681 171 chr12:109683533:C:T 7377_5281_1761_R->* 0.000199681 171 chr12:109685479:T:A 7377_5640_1880_C->* 0.000199681 171 chr12:109689902:C:T 7377_5842_1948_R->* 0.000199681 171 chr12:109700205:C:T 7377_6718_2240_R->* 0.000199681 171 chr12:109702039:G:T 7377_6790_2264_E->* 0.000199681 171 chr12:109577338:C:T 7377_128_43_P->L 0.000798722 171 chr12:109577344:A:G 7377_134_45_Q->R 0.000599042 171 chr12:109577350:C:A 7377_140_47_P->H 0.000199681 171 chr12:109577373:G:C 7377_163_55_G->R 0.000998403 171 chr12:109577469:C:T 7377_259_87_R->W 0.000199681 171 chr12:109577473:G:A 7377_263_88_R->Q 0.000199681 171 chr12:109577620:C:G 7377_410_137_A->G 0.000399361 171 chr12:109577635:A:C 7377_425_142_Q->P 0.000199681 171 chr12:109577701:A:G 7377_491_164_N->S 0.000199681 171 chr12:109577764:G:A 7377_554_185_R->H 0.000199681 171 chr12:109577776:G:A 7377_566_189_R->Q 0.000599042 171 chr12:109577841:G:C 7377_631_211_E->Q 0.000199681 171 chr12:109577848:G:A 7377_638_213_R->H 0.000199681 171 chr12:109604668:C:T 7377_656_219_P->L 0.000798722 171 chr12:109604785:G:A 7377_773_258_R->Q 0.000399361 171 chr12:109605719:G:A 7377_805_269_G->R 0.000199681 171 chr12:109605809:G:A 7377_895_299_V->M 0.000199681 171 chr12:109605836:G:A 7377_922_308_A->T 0.000199681 171 chr12:109609627:G:T 7377_943_315_D->Y 0.000199681 171 chr12:109609642:G:A 7377_958_320_V->I 0.000399361 171 chr12:109611978:G:A 7377_1159_387_A->T 0.0 171 chr12:109611987:G:A 7377_1168_390_V->I 0.000199681 171 chr12:109612006:A:G 7377_1187_396_Q->R 0.000199681 171 chr12:109613774:G:A 7377_1255_419_G->R 0.000998403 171 chr12:109613826:A:G 7377_1307_436_D->G 0.000798722 171 chr12:109613828:G:A 7377_1309_437_V->I 0.000399361 171 chr12:109616974:G:A 7377_1519_507_A->T 0.000199681 171 chr12:109617728:A:G 7377_1654_552_I->V 0.0788738 171 chr12:109617746:G:A 7377_1672_558_V->M 0.000199681 171 chr12:109617788:C:G 7377_1714_572_Q->E 0.000798722 171 chr12:109617881:G:A 7377_1807_603_A->T 0.000399361 171 chr12:109623394:G:A 7377_1829_610_G->D 0.000199681 171 chr12:109623397:T:C 7377_1832_611_V->A 0.000399361 171 chr12:109623438:G:C 7377_1873_625_E->Q 0.000199681 171 chr12:109623516:G:A 7377_1951_651_A->T 0.159545 171 chr12:109625861:G:A 7377_2038_680_V->M 0.000199681 171 chr12:109629664:G:A 7377_2308_770_D->N 0.000199681 171 chr12:109631511:G:A 7377_2458_820_G->R 0.000199681 171 chr12:109634834:A:G 7377_2503_835_M->V 0.0363419 171 chr12:109634864:A:G 7377_2533_845_I->V 0.000199681 171 chr12:109637227:A:G 7377_2648_883_N->S 0.000199681 171 chr12:109639410:A:T 7377_2817_939_R->S 0.000599042 171 chr12:109639433:G:A 7377_2840_947_R->H 0.000199681 171 chr12:109639462:G:A 7377_2869_957_V->M 0.00139776 171 chr12:109639480:C:A 7377_2887_963_L->I 0.000199681 171 chr12:109639488:C:A 7377_2895_965_D->E 0.000399361 171 chr12:109644515:G:A 7377_2914_972_A->T 0.000199681 171 chr12:109644596:G:A 7377_2995_999_V->I 0.000199681 171 chr12:109647054:G:T 7377_3145_1049_V->L 0.000199681 171 chr12:109647073:C:T 7377_3164_1055_A->V 0.000199681 171 chr12:109647130:C:T 7377_3221_1074_S->L 0.000199681 171 chr12:109650681:G:A 7377_3290_1097_R->Q 0.000599042 171 chr12:109654442:G:A 7377_3370_1124_G->S 0.000199681 171 chr12:109654690:G:T 7377_3529_1177_V->L 0.000199681 171 chr12:109654719:G:A 7377_3558_1186_M->I 0.000199681 171 chr12:109660393:G:A 7377_3646_1216_E->K 0.000199681 171 chr12:109660688:G:A 7377_3763_1255_G->S 0.000199681 171 chr12:109660694:C:G 7377_3769_1257_Q->E 0.00299521 171 chr12:109661672:A:G 7377_3845_1282_Y->C 0.000199681 171 chr12:109661677:G:T 7377_3850_1284_A->S 0.000399361 171 chr12:109665190:G:C 7377_3897_1299_R->S 0.000199681 171 chr12:109665200:G:A 7377_3907_1303_A->T 0.000399361 171 chr12:109665242:G:A 7377_3949_1317_G->S 0.0517173 171 chr12:109665254:G:A 7377_3961_1321_V->I 0.000199681 171 chr12:109665260:T:C 7377_3967_1323_F->L 0.000199681 171 chr12:109671581:G:A 7377_4168_1390_A->T 0.000199681 171 chr12:109671587:G:A 7377_4174_1392_V->M 0.000199681 171 chr12:109671638:G:A 7377_4225_1409_E->K 0.000199681 171 chr12:109671822:C:T 7377_4319_1440_P->L 0.000199681 171 chr12:109673448:A:T 7377_4442_1481_D->V 0.00199681 171 chr12:109675034:G:A 7377_4511_1504_R->Q 0.000199681 171 chr12:109677729:G:A 7377_4757_1586_R->H 0.000599042 171 chr12:109677743:C:G 7377_4771_1591_H->D 0.000399361 171 chr12:109678898:C:T 7377_4834_1612_R->C 0.000798722 171 chr12:109678914:G:A 7377_4850_1617_R->H 0.000199681 171 chr12:109678916:T:A 7377_4852_1618_Y->N 0.000199681 171 chr12:109678926:G:A 7377_4862_1621_R->Q 0.000199681 171 chr12:109678937:C:T 7377_4873_1625_L->F 0.000199681 171 chr12:109679076:G:C 7377_5012_1671_R->T 0.000798722 171 chr12:109679082:G:T 7377_5018_1673_G->V 0.000199681 171 chr12:109680276:C:G 7377_5057_1686_P->R 0.00319489 171 chr12:109680294:T:C 7377_5075_1692_I->T 0.000199681 171 chr12:109680297:A:C 7377_5078_1693_N->T 0.000199681 171 chr12:109683468:C:G 7377_5216_1739_P->R 0.00159744 171 chr12:109683504:A:G 7377_5252_1751_D->G 0.000399361 171 chr12:109683531:A:G 7377_5279_1760_N->S 0.000998403 171 chr12:109684039:G:A 7377_5357_1786_R->Q 0.00279553 171 chr12:109684044:G:A 7377_5362_1788_V->M 0.00179712 171 chr12:109684053:A:T 7377_5371_1791_I->F 0.000199681 171 chr12:109684074:C:G 7377_5392_1798_R->G 0.000199681 171 chr12:109684125:G:A 7377_5443_1815_E->K 0.0467252 171 chr12:109684135:G:A 7377_5453_1818_R->Q 0.000199681 171 chr12:109684161:G:A 7377_5479_1827_V->M 0.000199681 171 chr12:109684214:G:A 7377_5532_1844_M->I 0.000199681 171 chr12:109684216:T:A 7377_5534_1845_F->Y 0.000199681 171 chr12:109685429:C:A 7377_5590_1864_L->M 0.000199681 171 chr12:109685471:G:A 7377_5632_1878_V->I 0.000199681 171 chr12:109687832:G:A 7377_5713_1905_V->M 0.000199681 171 chr12:109687886:G:C 7377_5767_1923_E->Q 0.00119808 171 chr12:109690842:C:T 7377_5924_1975_T->I 0.000199681 171 chr12:109690865:G:A 7377_5947_1983_V->I 0.000599042 171 chr12:109690901:A:G 7377_5983_1995_T->A 0.000199681 171 chr12:109690904:G:A 7377_5986_1996_V->M 0.00199681 171 chr12:109692053:C:T 7377_6080_2027_T->I 0.0756789 171 chr12:109692061:A:G 7377_6088_2030_I->V 0.00139776 171 chr12:109692064:G:A 7377_6091_2031_D->N 0.000199681 171 chr12:109692110:G:A 7377_6137_2046_R->Q 0.000199681 171 chr12:109693957:C:T 7377_6179_2060_T->M 0.000199681 171 chr12:109696838:G:A 7377_6421_2141_V->I 0.261182 171 chr12:109698329:G:A 7377_6541_2181_G->S 0.000199681 171 chr12:109698363:A:G 7377_6575_2192_Y->C 0.000199681 171 chr12:109698398:T:A 7377_6610_2204_W->R 0.000199681 171 chr12:109700164:G:T 7377_6677_2226_G->V 0.000199681 171 chr12:109700236:G:T 7377_6749_2250_R->M 0.000798722 171 chr12:109700244:C:T 7377_6757_2253_P->S 0.000199681 171 chr12:109700265:G:A 7377_6778_2260_E->K 0.000798722 171 chr12:109702081:C:T 7377_6832_2278_R->W 0.000199681 171 chr12:109702093:C:T 7377_6844_2282_R->C 0.000599042 171 chr12:109702094:G:A 7377_6845_2282_R->H 0.000199681 171 chr12:109702162:G:A 7377_6913_2305_G->S 0.000399361 171 chr12:109702166:G:A 7377_6917_2306_R->Q 0.00539137 171 chr12:109702940:G:A 7377_6968_2323_R->H 0.000399361 171 chr12:109703026:C:G 7377_7054_2352_H->D 0.000199681 171 chr12:109703044:A:G 7377_7072_2358_M->V 0.000199681 171 chr12:109703230:T:C 7377_7150_2384_W->R 0.000199681 171 chr12:109703273:C:G 7377_7193_2398_T->S 0.000199681 171 chr12:109703305:G:A 7377_7225_2409_D->N 0.00119808 171 chr12:109703327:G:A 7377_7247_2416_R->Q 0.000399361 171 chr12:109704126:G:A 7377_7336_2446_V->I 0.000199681 171 na12878 Variants: 171 chr12:109617728:A:G 7377_1654_552_I->V 171 chr12:109696838:G:A 7377_6421_2141_V->I 171 snyder Variants: 171 chr12:109623516:G:A 7377_1951_651_A->T 171 chr12:109665242:G:A 7377_3949_1317_G->S 171 chr12:109696838:G:A 7377_6421_2141_V->I 172 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000076555_ENST00000377848 gene_Name: ACACB_HUMAN 172 list of pdbs: 172 3TDC pdb_description: 12-Oct-11 X-ray 2.410 Crystal structure of human acetyl-coa carboxylase 2 172 3JRX pdb_description: 12-Jan-10 X-ray 2.500 Crystal structure of the bc domain of acc2 in complex with soraphen a 172 3JRW pdb_description: 12-Jan-10 X-ray 2.600 Phosphorylated bc domain of acc2 172 3GLK pdb_description: 24-Mar-09 X-ray 2.100 The biotin carboxylase (bc) domain of human acetyl-coa carbo (acc2) 172 3GID pdb_description: 17-Mar-09 X-ray 2.300 The biotin carboxylase (bc) domain of human acetyl-coa carbo (acc2) in complex with soraphen a 172 3FF6 pdb_description: 19-May-09 X-ray 3.190 Human acc2 ct domain with cp-640186 172 2KCC pdb_description: 17-Feb-09 NMR 20 Solution structure of biotinoyl domain from human acetyl- coa carboxylase 2 172 2HJW pdb_description: 03-Jul-07 X-ray 2.500 Crystal structure of the bc domain of acc2 172 2DN8 pdb_description: 25-Oct-06 NMR 20 Solution structure of rsgi ruh-053, an apo-biotin carboxy carrier protein from human transcarboxylase 172 Zimmer Variants: 172 chr12:109696838:G:A 7377_6421_2141_V->I 172 chr12:109692053:C:T 7377_6080_2027_T->I 172 HGMD Variants: 172 chr12:109683531:A:G 7377_5279_1760_N->S 172 chr12:109696838:G:A 7377_6421_2141_V->I 172 oneKG Variants: 172 chr12:109612005:C:T 7377_1186_396_Q->* 0.000199681 172 chr12:109660702:C:A 7377_3777_1259_C->* 0.000199681 172 chr12:109683533:C:T 7377_5281_1761_R->* 0.000199681 172 chr12:109685479:T:A 7377_5640_1880_C->* 0.000199681 172 chr12:109689902:C:T 7377_5842_1948_R->* 0.000199681 172 chr12:109700205:C:T 7377_6718_2240_R->* 0.000199681 172 chr12:109702039:G:T 7377_6790_2264_E->* 0.000199681 172 chr12:109577338:C:T 7377_128_43_P->L 0.000798722 172 chr12:109577344:A:G 7377_134_45_Q->R 0.000599042 172 chr12:109577350:C:A 7377_140_47_P->H 0.000199681 172 chr12:109577373:G:C 7377_163_55_G->R 0.000998403 172 chr12:109577469:C:T 7377_259_87_R->W 0.000199681 172 chr12:109577473:G:A 7377_263_88_R->Q 0.000199681 172 chr12:109577620:C:G 7377_410_137_A->G 0.000399361 172 chr12:109577635:A:C 7377_425_142_Q->P 0.000199681 172 chr12:109577701:A:G 7377_491_164_N->S 0.000199681 172 chr12:109577764:G:A 7377_554_185_R->H 0.000199681 172 chr12:109577776:G:A 7377_566_189_R->Q 0.000599042 172 chr12:109577841:G:C 7377_631_211_E->Q 0.000199681 172 chr12:109577848:G:A 7377_638_213_R->H 0.000199681 172 chr12:109604668:C:T 7377_656_219_P->L 0.000798722 172 chr12:109604785:G:A 7377_773_258_R->Q 0.000399361 172 chr12:109605719:G:A 7377_805_269_G->R 0.000199681 172 chr12:109605809:G:A 7377_895_299_V->M 0.000199681 172 chr12:109605836:G:A 7377_922_308_A->T 0.000199681 172 chr12:109609627:G:T 7377_943_315_D->Y 0.000199681 172 chr12:109609642:G:A 7377_958_320_V->I 0.000399361 172 chr12:109611978:G:A 7377_1159_387_A->T 0.0 172 chr12:109611987:G:A 7377_1168_390_V->I 0.000199681 172 chr12:109612006:A:G 7377_1187_396_Q->R 0.000199681 172 chr12:109613774:G:A 7377_1255_419_G->R 0.000998403 172 chr12:109613826:A:G 7377_1307_436_D->G 0.000798722 172 chr12:109613828:G:A 7377_1309_437_V->I 0.000399361 172 chr12:109616974:G:A 7377_1519_507_A->T 0.000199681 172 chr12:109617728:A:G 7377_1654_552_I->V 0.0788738 172 chr12:109617746:G:A 7377_1672_558_V->M 0.000199681 172 chr12:109617788:C:G 7377_1714_572_Q->E 0.000798722 172 chr12:109617881:G:A 7377_1807_603_A->T 0.000399361 172 chr12:109623394:G:A 7377_1829_610_G->D 0.000199681 172 chr12:109623397:T:C 7377_1832_611_V->A 0.000399361 172 chr12:109623438:G:C 7377_1873_625_E->Q 0.000199681 172 chr12:109623516:G:A 7377_1951_651_A->T 0.159545 172 chr12:109625861:G:A 7377_2038_680_V->M 0.000199681 172 chr12:109629664:G:A 7377_2308_770_D->N 0.000199681 172 chr12:109631511:G:A 7377_2458_820_G->R 0.000199681 172 chr12:109634834:A:G 7377_2503_835_M->V 0.0363419 172 chr12:109634864:A:G 7377_2533_845_I->V 0.000199681 172 chr12:109637227:A:G 7377_2648_883_N->S 0.000199681 172 chr12:109639410:A:T 7377_2817_939_R->S 0.000599042 172 chr12:109639433:G:A 7377_2840_947_R->H 0.000199681 172 chr12:109639462:G:A 7377_2869_957_V->M 0.00139776 172 chr12:109639480:C:A 7377_2887_963_L->I 0.000199681 172 chr12:109639488:C:A 7377_2895_965_D->E 0.000399361 172 chr12:109644515:G:A 7377_2914_972_A->T 0.000199681 172 chr12:109644596:G:A 7377_2995_999_V->I 0.000199681 172 chr12:109647054:G:T 7377_3145_1049_V->L 0.000199681 172 chr12:109647073:C:T 7377_3164_1055_A->V 0.000199681 172 chr12:109647130:C:T 7377_3221_1074_S->L 0.000199681 172 chr12:109650681:G:A 7377_3290_1097_R->Q 0.000599042 172 chr12:109654442:G:A 7377_3370_1124_G->S 0.000199681 172 chr12:109654690:G:T 7377_3529_1177_V->L 0.000199681 172 chr12:109654719:G:A 7377_3558_1186_M->I 0.000199681 172 chr12:109660393:G:A 7377_3646_1216_E->K 0.000199681 172 chr12:109660688:G:A 7377_3763_1255_G->S 0.000199681 172 chr12:109660694:C:G 7377_3769_1257_Q->E 0.00299521 172 chr12:109661672:A:G 7377_3845_1282_Y->C 0.000199681 172 chr12:109661677:G:T 7377_3850_1284_A->S 0.000399361 172 chr12:109665190:G:C 7377_3897_1299_R->S 0.000199681 172 chr12:109665200:G:A 7377_3907_1303_A->T 0.000399361 172 chr12:109665242:G:A 7377_3949_1317_G->S 0.0517173 172 chr12:109665254:G:A 7377_3961_1321_V->I 0.000199681 172 chr12:109665260:T:C 7377_3967_1323_F->L 0.000199681 172 chr12:109671581:G:A 7377_4168_1390_A->T 0.000199681 172 chr12:109671587:G:A 7377_4174_1392_V->M 0.000199681 172 chr12:109671638:G:A 7377_4225_1409_E->K 0.000199681 172 chr12:109671822:C:T 7377_4319_1440_P->L 0.000199681 172 chr12:109673448:A:T 7377_4442_1481_D->V 0.00199681 172 chr12:109675034:G:A 7377_4511_1504_R->Q 0.000199681 172 chr12:109677729:G:A 7377_4757_1586_R->H 0.000599042 172 chr12:109677743:C:G 7377_4771_1591_H->D 0.000399361 172 chr12:109678898:C:T 7377_4834_1612_R->C 0.000798722 172 chr12:109678914:G:A 7377_4850_1617_R->H 0.000199681 172 chr12:109678916:T:A 7377_4852_1618_Y->N 0.000199681 172 chr12:109678926:G:A 7377_4862_1621_R->Q 0.000199681 172 chr12:109678937:C:T 7377_4873_1625_L->F 0.000199681 172 chr12:109679076:G:C 7377_5012_1671_R->T 0.000798722 172 chr12:109679082:G:T 7377_5018_1673_G->V 0.000199681 172 chr12:109680276:C:G 7377_5057_1686_P->R 0.00319489 172 chr12:109680294:T:C 7377_5075_1692_I->T 0.000199681 172 chr12:109680297:A:C 7377_5078_1693_N->T 0.000199681 172 chr12:109683468:C:G 7377_5216_1739_P->R 0.00159744 172 chr12:109683504:A:G 7377_5252_1751_D->G 0.000399361 172 chr12:109683531:A:G 7377_5279_1760_N->S 0.000998403 172 chr12:109684039:G:A 7377_5357_1786_R->Q 0.00279553 172 chr12:109684044:G:A 7377_5362_1788_V->M 0.00179712 172 chr12:109684053:A:T 7377_5371_1791_I->F 0.000199681 172 chr12:109684074:C:G 7377_5392_1798_R->G 0.000199681 172 chr12:109684125:G:A 7377_5443_1815_E->K 0.0467252 172 chr12:109684135:G:A 7377_5453_1818_R->Q 0.000199681 172 chr12:109684161:G:A 7377_5479_1827_V->M 0.000199681 172 chr12:109684214:G:A 7377_5532_1844_M->I 0.000199681 172 chr12:109684216:T:A 7377_5534_1845_F->Y 0.000199681 172 chr12:109685429:C:A 7377_5590_1864_L->M 0.000199681 172 chr12:109685471:G:A 7377_5632_1878_V->I 0.000199681 172 chr12:109687832:G:A 7377_5713_1905_V->M 0.000199681 172 chr12:109687886:G:C 7377_5767_1923_E->Q 0.00119808 172 chr12:109690842:C:T 7377_5924_1975_T->I 0.000199681 172 chr12:109690865:G:A 7377_5947_1983_V->I 0.000599042 172 chr12:109690901:A:G 7377_5983_1995_T->A 0.000199681 172 chr12:109690904:G:A 7377_5986_1996_V->M 0.00199681 172 chr12:109692053:C:T 7377_6080_2027_T->I 0.0756789 172 chr12:109692061:A:G 7377_6088_2030_I->V 0.00139776 172 chr12:109692064:G:A 7377_6091_2031_D->N 0.000199681 172 chr12:109692110:G:A 7377_6137_2046_R->Q 0.000199681 172 chr12:109693957:C:T 7377_6179_2060_T->M 0.000199681 172 chr12:109696838:G:A 7377_6421_2141_V->I 0.261182 172 chr12:109698329:G:A 7377_6541_2181_G->S 0.000199681 172 chr12:109698363:A:G 7377_6575_2192_Y->C 0.000199681 172 chr12:109698398:T:A 7377_6610_2204_W->R 0.000199681 172 chr12:109700164:G:T 7377_6677_2226_G->V 0.000199681 172 chr12:109700236:G:T 7377_6749_2250_R->M 0.000798722 172 chr12:109700244:C:T 7377_6757_2253_P->S 0.000199681 172 chr12:109700265:G:A 7377_6778_2260_E->K 0.000798722 172 chr12:109702081:C:T 7377_6832_2278_R->W 0.000199681 172 chr12:109702093:C:T 7377_6844_2282_R->C 0.000599042 172 chr12:109702094:G:A 7377_6845_2282_R->H 0.000199681 172 chr12:109702162:G:A 7377_6913_2305_G->S 0.000399361 172 chr12:109702166:G:A 7377_6917_2306_R->Q 0.00539137 172 chr12:109702940:G:A 7377_6968_2323_R->H 0.000399361 172 chr12:109703026:C:G 7377_7054_2352_H->D 0.000199681 172 chr12:109703044:A:G 7377_7072_2358_M->V 0.000199681 172 chr12:109703230:T:C 7377_7150_2384_W->R 0.000199681 172 chr12:109703273:C:G 7377_7193_2398_T->S 0.000199681 172 chr12:109703305:G:A 7377_7225_2409_D->N 0.00119808 172 chr12:109703327:G:A 7377_7247_2416_R->Q 0.000399361 172 chr12:109704126:G:A 7377_7336_2446_V->I 0.000199681 172 na12878 Variants: 172 chr12:109617728:A:G 7377_1654_552_I->V 172 chr12:109696838:G:A 7377_6421_2141_V->I 172 snyder Variants: 172 chr12:109623516:G:A 7377_1951_651_A->T 172 chr12:109665242:G:A 7377_3949_1317_G->S 172 chr12:109696838:G:A 7377_6421_2141_V->I 173 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139428_ENST00000545712 gene_Name: MMAB_HUMAN 173 list of pdbs: 173 2IDX pdb_description: 06-Feb-07 X-ray 2.500 Structure of human atp:cobalamin adenosyltransferase bound to atp. 173 Zimmer Variants: 173 chr12:110011230:C:T 753_56_19_R->H 173 chr12:109994870:A:T 753_716_239_M->K 173 HGMD Variants: 173 chr12:109994886:G:A 753_700_234_Q->* 173 chr12:109999290:C:A 753_454_152_E->* 173 chr12:110011274:G:T 753_12_4_C->* 173 chr12:109994930:T:C 753_656_219_Y->C 173 chr12:109998845:C:T 753_584_195_R->H 173 chr12:109998852:C:T 753_577_193_E->K 173 chr12:109998857:C:T 753_572_191_R->Q 173 chr12:109998858:G:A 753_571_191_R->W 173 chr12:109998860:C:T 753_569_190_R->H 173 chr12:109998861:G:A 753_568_190_R->C 173 chr12:109998867:C:T 753_562_188_V->M 173 chr12:109998872:C:T 753_557_186_R->Q 173 chr12:109998873:G:A 753_556_186_R->W 173 chr12:109998890:G:C 753_539_180_S->W 173 chr12:109998908:G:A 753_521_174_S->L 173 chr12:109999603:C:T 753_403_135_A->T 173 chr12:109999608:G:A 753_398_133_S->F 173 chr12:109999612:A:G 753_394_132_C->R 173 chr12:110006575:C:T 753_290_97_G->E 173 chr12:110006578:A:G 753_287_96_I->T 173 chr12:110009465:G:A 753_185_62_T->M 173 oneKG Variants: 173 chr12:109994870:A:T 753_716_239_M->K 0.486621 173 chr12:109996925:G:A 753_620_207_A->V 0.000399361 173 chr12:109998846:G:A 753_583_195_R->C 0.00179712 173 chr12:109998905:C:G 753_524_175_G->A 0.000199681 173 chr12:109999241:G:A 753_503_168_T->M 0.000199681 173 chr12:109999258:G:C 753_486_162_S->R 0.000199681 173 chr12:109999289:T:C 753_455_152_E->G 0.000199681 173 chr12:109999290:C:T 753_454_152_E->K 0.000199681 173 chr12:109999314:T:C 753_430_144_T->A 0.000199681 173 chr12:109999603:C:T 753_403_135_A->T 0.00299521 173 chr12:109999612:A:G 753_394_132_C->R 0.000199681 173 chr12:109999620:G:A 753_386_129_A->V 0.000199681 173 chr12:109999633:C:T 753_373_125_G->S 0.000199681 173 chr12:110002926:T:C 753_346_116_K->E 0.000399361 173 chr12:110006618:A:G 753_247_83_F->L 0.000399361 173 chr12:110006659:C:T 753_206_69_S->N 0.000399361 173 chr12:110009465:G:A 753_185_62_T->M 0.00678914 173 chr12:110011198:G:A 753_88_30_P->S 0.000199681 173 chr12:110011207:G:A 753_79_27_L->F 0.000199681 173 chr12:110011230:C:T 753_56_19_R->H 0.284944 173 chr12:110011251:A:G 753_35_12_L->P 0.000199681 173 chr12:110011276:A:G 753_10_4_C->R 0.00179712 173 na12878 Variants: 173 chr12:110011230:C:T 753_56_19_R->H 173 chr12:109994870:A:T 753_716_239_M->K 173 snyder Variants: 173 chr12:110011230:C:T 753_56_19_R->H 173 chr12:109994870:A:T 753_716_239_M->K 174 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110921_ENST00000228510 gene_Name: KIME_HUMAN 174 list of pdbs: 174 2R3V pdb_description: 24-Jun-08 X-ray 2.500 The biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism 174 Zimmer Variants: 174 chr12:110013879:G:A 1191_155_52_S->N 174 HGMD Variants: 174 chr12:110012664:A:T 1191_37_13_K->* 174 chr12:110013909:G:A 1191_185_62_W->* 174 chr12:110013910:G:A 1191_186_62_W->* 174 chr12:110019229:G:A 1191_401_134_W->* 174 chr12:110019275:C:G 1191_447_149_Y->* 174 chr12:110023863:G:A 1191_564_188_W->* 174 chr12:110024579:C:T 1191_652_218_Q->* 174 chr12:110034353:C:T 1191_1162_388_R->* 174 chr12:110012628:A:C 1191_1_1_M->L 174 chr12:110012630:G:C 1191_3_1_M->I 174 chr12:110012656:C:T 1191_29_10_A->V 174 chr12:110012661:G:C 1191_34_12_G->R 174 chr12:110012685:C:A 1191_58_20_H->N 174 chr12:110012686:A:C 1191_59_20_H->P 174 chr12:110012687:T:A 1191_60_20_H->Q 174 chr12:110012689:C:T 1191_62_21_A->V 174 chr12:110013806:G:A 1191_82_28_A->T 174 chr12:110013828:T:C 1191_104_35_L->S 174 chr12:110013831:G:C 1191_107_36_R->T 174 chr12:110013840:T:C 1191_116_39_L->P 174 chr12:110013842:C:T 1191_118_40_R->W 174 chr12:110013846:T:C 1191_122_41_L->P 174 chr12:110013875:C:T 1191_151_51_L->F 174 chr12:110013929:T:A 1191_205_69_S->T 174 chr12:110017726:T:C 1191_346_116_Y->H 174 chr12:110017730:T:C 1191_350_117_L->P 174 chr12:110017737:C:G 1191_357_119_I->M 174 chr12:110019222:G:A 1191_394_132_V->I 174 chr12:110019232:C:T 1191_404_135_S->L 174 chr12:110019267:G:A 1191_439_147_A->T 174 chr12:110019270:G:A 1191_442_148_A->T 174 chr12:110019271:C:T 1191_443_148_A->V 174 chr12:110019277:C:T 1191_449_150_S->L 174 chr12:110019322:C:T 1191_494_165_P->L 174 chr12:110019328:C:T 1191_500_167_P->L 174 chr12:110019339:G:A 1191_511_171_G->R 174 chr12:110023903:G:A 1191_604_202_G->R 174 chr12:110023907:T:C 1191_608_203_V->A 174 chr12:110023912:A:G 1191_613_205_N->D 174 chr12:110023924:A:G 1191_625_209_T->A 174 chr12:110024559:G:C 1191_632_211_G->A 174 chr12:110024559:G:A 1191_632_211_G->E 174 chr12:110024561:G:A 1191_634_212_G->R 174 chr12:110024570:C:G 1191_643_215_R->G 174 chr12:110024571:G:A 1191_644_215_R->Q 174 chr12:110024582:G:T 1191_655_219_G->W 174 chr12:110028581:C:T 1191_683_228_P->L 174 chr12:110028599:T:C 1191_701_234_L->P 174 chr12:110028607:A:T 1191_709_237_T->S 174 chr12:110028619:C:T 1191_721_241_R->C 174 chr12:110028626:C:T 1191_728_243_T->I 174 chr12:110028635:T:C 1191_737_246_L->P 174 chr12:110028646:G:A 1191_748_250_V->I 174 chr12:110028662:T:C 1191_764_255_L->P 174 chr12:110029061:G:C 1191_784_262_A->P 174 chr12:110029067:C:T 1191_790_264_L->F 174 chr12:110029071:T:C 1191_794_265_L->P 174 chr12:110029071:T:G 1191_794_265_L->R 174 chr12:110029080:T:C 1191_803_268_I->T 174 chr12:110029082:G:C 1191_805_269_D->H 174 chr12:110029092:C:T 1191_815_272_S->F 174 chr12:110029106:C:T 1191_829_277_R->C 174 chr12:110029106:C:G 1191_829_277_R->G 174 chr12:110029107:G:A 1191_830_277_R->H 174 chr12:110029110:T:C 1191_833_278_V->A 174 chr12:110029113:T:C 1191_836_279_L->P 174 chr12:110029140:C:T 1191_863_288_P->L 174 chr12:110029148:T:G 1191_871_291_Y->D 174 chr12:110029154:G:A 1191_877_293_V->M 174 chr12:110032840:T:C 1191_893_298_I->T 174 chr12:110032849:A:C 1191_902_301_N->T 174 chr12:110032872:G:A 1191_925_309_G->S 174 chr12:110032873:G:T 1191_926_309_G->V 174 chr12:110032875:G:A 1191_928_310_V->M 174 chr12:110032875:G:C 1191_928_310_V->L 174 chr12:110032882:A:G 1191_935_312_H->R 174 chr12:110032909:T:C 1191_962_321_V->A 174 chr12:110032912:C:G 1191_965_322_T->S 174 chr12:110032923:G:A 1191_976_326_G->R 174 chr12:110032933:G:A 1191_986_329_S->N 174 chr12:110032934:C:A 1191_987_329_S->R 174 chr12:110032947:G:A 1191_1000_334_A->T 174 chr12:110032951:G:A 1191_1004_335_G->D 174 chr12:110032953:G:A 1191_1006_336_G->S 174 chr12:110032960:G:A 1191_1013_338_G->D 174 chr12:110032975:T:C 1191_1028_343_L->P 174 chr12:110034276:G:T 1191_1085_362_S->I 174 chr12:110034285:T:C 1191_1094_365_F->S 174 chr12:110034291:G:C 1191_1100_367_C->S 174 chr12:110034317:G:A 1191_1126_376_G->S 174 chr12:110034318:G:T 1191_1127_376_G->V 174 chr12:110034320:G:A 1191_1129_377_V->I 174 chr12:110034323:T:C 1191_1132_378_S->P 174 chr12:110034327:T:A 1191_1136_379_I->N 174 chr12:110034330:A:G 1191_1139_380_H->R 174 chr12:110034347:G:A 1191_1156_386_D->N 174 chr12:110034360:A:C 1191_1169_390_Q->P 174 oneKG Variants: 174 chr12:110012641:T:C 1191_14_5_V->A 0.000199681 174 chr12:110013851:C:T 1191_127_43_P->S 0.000199681 174 chr12:110013879:G:A 1191_155_52_S->N 0.0758786 174 chr12:110013902:C:T 1191_178_60_R->W 0.000199681 174 chr12:110017618:G:A 1191_238_80_V->I 0.00199681 174 chr12:110019312:G:A 1191_484_162_E->K 0.0 174 chr12:110019339:G:A 1191_511_171_G->R 0.000199681 174 chr12:110019352:A:G 1191_524_175_N->S 0.000998403 174 chr12:110023891:G:A 1191_592_198_G->R 0.000199681 174 chr12:110029125:G:C 1191_848_283_G->A 0.000599042 174 chr12:110029154:G:A 1191_877_293_V->M 0.000199681 174 chr12:110032884:G:A 1191_937_313_A->T 0.000199681 174 chr12:110034233:C:G 1191_1042_348_L->V 0.000199681 174 chr12:110034249:T:A 1191_1058_353_V->E 0.000199681 174 chr12:110034258:C:T 1191_1067_356_T->M 0.000199681 174 chr12:110034311:G:A 1191_1120_374_A->T 0.000199681 174 chr12:110034347:G:A 1191_1156_386_D->N 0.00339457 174 na12878 Variants: 174 chr12:110013879:G:A 1191_155_52_S->N 174 snyder Variants: 174 chr12:110013879:G:A 1191_155_52_S->N 175 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000392474 gene_Name: KKCC2_HUMAN 175 list of pdbs: 175 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 175 Zimmer Variants: 175 chr12:121691096:G:A 1671_1087_363_R->C 175 chr12:121711962:C:T 1671_368_123_C->Y 175 chr12:121712077:T:A 1671_253_85_T->S 175 HGMD Variants: 175 chr12:121712077:T:A 1671_253_85_T->S 175 oneKG Variants: 175 chr12:121678311:G:A 1671_1631_544_T->M 0.000199681 175 chr12:121682943:G:A 1671_1553_518_T->I 0.000399361 175 chr12:121682973:C:T 1671_1523_508_R->H 0.000399361 175 chr12:121682986:G:A 1671_1510_504_R->W 0.000199681 175 chr12:121683021:C:T 1671_1475_492_R->H 0.000399361 175 chr12:121687639:C:T 1671_1274_425_R->H 0.000199681 175 chr12:121687673:C:T 1671_1240_414_D->N 0.000199681 175 chr12:121687801:T:G 1671_1198_400_S->R 0.000199681 175 chr12:121691096:G:A 1671_1087_363_R->C 0.241214 175 chr12:121691141:C:T 1671_1042_348_V->M 0.000199681 175 chr12:121691170:T:G 1671_1013_338_K->T 0.000199681 175 chr12:121691263:T:C 1671_920_307_K->R 0.000199681 175 chr12:121693427:A:T 1671_833_278_V->E 0.000199681 175 chr12:121711875:G:C 1671_455_152_S->C 0.00199681 175 chr12:121711962:C:T 1671_368_123_C->Y 0.00858626 175 chr12:121711972:G:A 1671_358_120_R->C 0.000199681 175 chr12:121712040:C:T 1671_290_97_R->H 0.000199681 175 chr12:121712077:T:A 1671_253_85_T->S 0.411741 175 chr12:121712142:G:A 1671_188_63_A->V 0.000199681 175 chr12:121712217:C:T 1671_113_38_R->Q 0.000199681 175 chr12:121712218:G:A 1671_112_38_R->W 0.000199681 175 chr12:121712229:C:T 1671_101_34_C->Y 0.000199681 175 chr12:121712232:G:A 1671_98_33_P->L 0.000199681 175 chr12:121712263:T:C 1671_67_23_R->G 0.000599042 175 chr12:121712292:C:T 1671_38_13_R->Q 0.000199681 175 chr12:121712301:C:T 1671_29_10_S->N 0.0175719 175 chr12:121712305:G:A 1671_25_9_P->S 0.000199681 175 chr12:121712328:A:G 1671_2_1_M->T 0.000599042 175 na12878 Variants: 175 chr12:121691096:G:A 1671_1087_363_R->C 175 snyder Variants: 175 chr12:121691096:G:A 1671_1087_363_R->C 176 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000347034 gene_Name: KKCC2_HUMAN 176 list of pdbs: 176 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 176 Zimmer Variants: 176 chr12:121691096:G:A 1638_1087_363_R->C 176 chr12:121711962:C:T 1638_368_123_C->Y 176 chr12:121712077:T:A 1638_253_85_T->S 176 HGMD Variants: 176 chr12:121712077:T:A 1638_253_85_T->S 176 oneKG Variants: 176 chr12:121678531:G:A 1638_1609_537_R->W 0.000199681 176 chr12:121678558:C:T 1638_1582_528_G->S 0.00139776 176 chr12:121678567:G:A 1638_1573_525_P->S 0.000399361 176 chr12:121678569:G:A 1638_1571_524_A->V 0.00119808 176 chr12:121682943:G:A 1638_1424_475_T->I 0.000399361 176 chr12:121682973:C:T 1638_1394_465_R->H 0.000399361 176 chr12:121682986:G:A 1638_1381_461_R->W 0.000199681 176 chr12:121683021:C:T 1638_1346_449_R->H 0.000399361 176 chr12:121687639:C:T 1638_1274_425_R->H 0.000199681 176 chr12:121687673:C:T 1638_1240_414_D->N 0.000199681 176 chr12:121687801:T:G 1638_1198_400_S->R 0.000199681 176 chr12:121691096:G:A 1638_1087_363_R->C 0.241214 176 chr12:121691141:C:T 1638_1042_348_V->M 0.000199681 176 chr12:121691170:T:G 1638_1013_338_K->T 0.000199681 176 chr12:121691263:T:C 1638_920_307_K->R 0.000199681 176 chr12:121693427:A:T 1638_833_278_V->E 0.000199681 176 chr12:121711875:G:C 1638_455_152_S->C 0.00199681 176 chr12:121711962:C:T 1638_368_123_C->Y 0.00858626 176 chr12:121711972:G:A 1638_358_120_R->C 0.000199681 176 chr12:121712040:C:T 1638_290_97_R->H 0.000199681 176 chr12:121712077:T:A 1638_253_85_T->S 0.411741 176 chr12:121712142:G:A 1638_188_63_A->V 0.000199681 176 chr12:121712217:C:T 1638_113_38_R->Q 0.000199681 176 chr12:121712218:G:A 1638_112_38_R->W 0.000199681 176 chr12:121712229:C:T 1638_101_34_C->Y 0.000199681 176 chr12:121712232:G:A 1638_98_33_P->L 0.000199681 176 chr12:121712263:T:C 1638_67_23_R->G 0.000599042 176 chr12:121712292:C:T 1638_38_13_R->Q 0.000199681 176 chr12:121712301:C:T 1638_29_10_S->N 0.0175719 176 chr12:121712305:G:A 1638_25_9_P->S 0.000199681 176 chr12:121712328:A:G 1638_2_1_M->T 0.000599042 176 na12878 Variants: 176 chr12:121691096:G:A 1638_1087_363_R->C 176 snyder Variants: 176 chr12:121691096:G:A 1638_1087_363_R->C 177 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000538733 gene_Name: KKCC2_HUMAN 177 list of pdbs: 177 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 177 Zimmer Variants: 177 chr12:121691096:G:A 1497_1087_363_R->C 177 chr12:121711962:C:T 1497_368_123_C->Y 177 chr12:121712077:T:A 1497_253_85_T->S 177 HGMD Variants: 177 chr12:121712077:T:A 1497_253_85_T->S 177 oneKG Variants: 177 chr12:121678622:C:T 1497_1475_492_G->E,1 0.000399361 177 chr12:121682943:G:A 1497_1424_475_T->M 0.000399361 177 chr12:121682973:C:T 1497_1394_465_R->H 0.000399361 177 chr12:121682986:G:A 1497_1381_461_R->W 0.000199681 177 chr12:121683021:C:T 1497_1346_449_R->H 0.000399361 177 chr12:121687639:C:T 1497_1274_425_R->H 0.000199681 177 chr12:121687673:C:T 1497_1240_414_D->N 0.000199681 177 chr12:121687801:T:G 1497_1198_400_S->R 0.000199681 177 chr12:121691096:G:A 1497_1087_363_R->C 0.241214 177 chr12:121691141:C:T 1497_1042_348_V->M 0.000199681 177 chr12:121691170:T:G 1497_1013_338_K->T 0.000199681 177 chr12:121691263:T:C 1497_920_307_K->R 0.000199681 177 chr12:121693427:A:T 1497_833_278_V->E 0.000199681 177 chr12:121711875:G:C 1497_455_152_S->C 0.00199681 177 chr12:121711962:C:T 1497_368_123_C->Y 0.00858626 177 chr12:121711972:G:A 1497_358_120_R->C 0.000199681 177 chr12:121712040:C:T 1497_290_97_R->H 0.000199681 177 chr12:121712077:T:A 1497_253_85_T->S 0.411741 177 chr12:121712142:G:A 1497_188_63_A->V 0.000199681 177 chr12:121712217:C:T 1497_113_38_R->Q 0.000199681 177 chr12:121712218:G:A 1497_112_38_R->W 0.000199681 177 chr12:121712229:C:T 1497_101_34_C->Y 0.000199681 177 chr12:121712232:G:A 1497_98_33_P->L 0.000199681 177 chr12:121712263:T:C 1497_67_23_R->G 0.000599042 177 chr12:121712292:C:T 1497_38_13_R->Q 0.000199681 177 chr12:121712301:C:T 1497_29_10_S->N 0.0175719 177 chr12:121712305:G:A 1497_25_9_P->S 0.000199681 177 chr12:121712328:A:G 1497_2_1_M->T 0.000599042 177 na12878 Variants: 177 chr12:121691096:G:A 1497_1087_363_R->C 177 snyder Variants: 177 chr12:121691096:G:A 1497_1087_363_R->C 178 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000337174 gene_Name: KKCC2_HUMAN 178 list of pdbs: 178 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 178 Zimmer Variants: 178 chr12:121691096:G:A 1626_1087_363_R->C 178 chr12:121711962:C:T 1626_368_123_C->Y 178 chr12:121712077:T:A 1626_253_85_T->S 178 HGMD Variants: 178 chr12:121712077:T:A 1626_253_85_T->S 178 oneKG Variants: 178 chr12:121678622:C:T 1626_1604_535_G->E 0.000399361 178 chr12:121682943:G:A 1626_1553_518_T->M 0.000399361 178 chr12:121682973:C:T 1626_1523_508_R->H 0.000399361 178 chr12:121682986:G:A 1626_1510_504_R->W 0.000199681 178 chr12:121683021:C:T 1626_1475_492_R->H 0.000399361 178 chr12:121687639:C:T 1626_1274_425_R->H 0.000199681 178 chr12:121687673:C:T 1626_1240_414_D->N 0.000199681 178 chr12:121687801:T:G 1626_1198_400_S->R 0.000199681 178 chr12:121691096:G:A 1626_1087_363_R->C 0.241214 178 chr12:121691141:C:T 1626_1042_348_V->M 0.000199681 178 chr12:121691170:T:G 1626_1013_338_K->T 0.000199681 178 chr12:121691263:T:C 1626_920_307_K->R 0.000199681 178 chr12:121693427:A:T 1626_833_278_V->E 0.000199681 178 chr12:121711875:G:C 1626_455_152_S->C 0.00199681 178 chr12:121711962:C:T 1626_368_123_C->Y 0.00858626 178 chr12:121711972:G:A 1626_358_120_R->C 0.000199681 178 chr12:121712040:C:T 1626_290_97_R->H 0.000199681 178 chr12:121712077:T:A 1626_253_85_T->S 0.411741 178 chr12:121712142:G:A 1626_188_63_A->V 0.000199681 178 chr12:121712217:C:T 1626_113_38_R->Q 0.000199681 178 chr12:121712218:G:A 1626_112_38_R->W 0.000199681 178 chr12:121712229:C:T 1626_101_34_C->Y 0.000199681 178 chr12:121712232:G:A 1626_98_33_P->L 0.000199681 178 chr12:121712263:T:C 1626_67_23_R->G 0.000599042 178 chr12:121712292:C:T 1626_38_13_R->Q 0.000199681 178 chr12:121712301:C:T 1626_29_10_S->N 0.0175719 178 chr12:121712305:G:A 1626_25_9_P->S 0.000199681 178 chr12:121712328:A:G 1626_2_1_M->T 0.000599042 178 na12878 Variants: 178 chr12:121691096:G:A 1626_1087_363_R->C 178 snyder Variants: 178 chr12:121691096:G:A 1626_1087_363_R->C 179 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000324774 gene_Name: KKCC2_HUMAN 179 list of pdbs: 179 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 179 Zimmer Variants: 179 chr12:121691096:G:A 1767_1087_363_R->C 179 chr12:121711962:C:T 1767_368_123_C->Y 179 chr12:121712077:T:A 1767_253_85_T->S 179 HGMD Variants: 179 chr12:121712077:T:A 1767_253_85_T->S 179 oneKG Variants: 179 chr12:121678531:G:A 1767_1738_580_R->W 0.000199681 179 chr12:121678558:C:T 1767_1711_571_G->S 0.00139776 179 chr12:121678567:G:A 1767_1702_568_P->S 0.000399361 179 chr12:121678569:G:A 1767_1700_567_A->V 0.00119808 179 chr12:121682943:G:A 1767_1553_518_T->I 0.000399361 179 chr12:121682973:C:T 1767_1523_508_R->H 0.000399361 179 chr12:121682986:G:A 1767_1510_504_R->W 0.000199681 179 chr12:121683021:C:T 1767_1475_492_R->H 0.000399361 179 chr12:121687639:C:T 1767_1274_425_R->H 0.000199681 179 chr12:121687673:C:T 1767_1240_414_D->N 0.000199681 179 chr12:121687801:T:G 1767_1198_400_S->R 0.000199681 179 chr12:121691096:G:A 1767_1087_363_R->C 0.241214 179 chr12:121691141:C:T 1767_1042_348_V->M 0.000199681 179 chr12:121691170:T:G 1767_1013_338_K->T 0.000199681 179 chr12:121691263:T:C 1767_920_307_K->R 0.000199681 179 chr12:121693427:A:T 1767_833_278_V->E 0.000199681 179 chr12:121711875:G:C 1767_455_152_S->C 0.00199681 179 chr12:121711962:C:T 1767_368_123_C->Y 0.00858626 179 chr12:121711972:G:A 1767_358_120_R->C 0.000199681 179 chr12:121712040:C:T 1767_290_97_R->H 0.000199681 179 chr12:121712077:T:A 1767_253_85_T->S 0.411741 179 chr12:121712142:G:A 1767_188_63_A->V 0.000199681 179 chr12:121712217:C:T 1767_113_38_R->Q 0.000199681 179 chr12:121712218:G:A 1767_112_38_R->W 0.000199681 179 chr12:121712229:C:T 1767_101_34_C->Y 0.000199681 179 chr12:121712232:G:A 1767_98_33_P->L 0.000199681 179 chr12:121712263:T:C 1767_67_23_R->G 0.000599042 179 chr12:121712292:C:T 1767_38_13_R->Q 0.000199681 179 chr12:121712301:C:T 1767_29_10_S->N 0.0175719 179 chr12:121712305:G:A 1767_25_9_P->S 0.000199681 179 chr12:121712328:A:G 1767_2_1_M->T 0.000599042 179 na12878 Variants: 179 chr12:121691096:G:A 1767_1087_363_R->C 179 snyder Variants: 179 chr12:121691096:G:A 1767_1087_363_R->C 180 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000412367 gene_Name: KKCC2_HUMAN 180 list of pdbs: 180 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 180 Zimmer Variants: 180 chr12:121691096:G:A 1626_1087_363_R->C 180 chr12:121711962:C:T 1626_368_123_C->Y 180 chr12:121712077:T:A 1626_253_85_T->S 180 HGMD Variants: 180 chr12:121712077:T:A 1626_253_85_T->S 180 oneKG Variants: 180 chr12:121678622:C:T 1626_1604_535_G->E 0.000399361 180 chr12:121682943:G:A 1626_1553_518_T->M 0.000399361 180 chr12:121682973:C:T 1626_1523_508_R->H 0.000399361 180 chr12:121682986:G:A 1626_1510_504_R->W 0.000199681 180 chr12:121683021:C:T 1626_1475_492_R->H 0.000399361 180 chr12:121687639:C:T 1626_1274_425_R->H 0.000199681 180 chr12:121687673:C:T 1626_1240_414_D->N 0.000199681 180 chr12:121687801:T:G 1626_1198_400_S->R 0.000199681 180 chr12:121691096:G:A 1626_1087_363_R->C 0.241214 180 chr12:121691141:C:T 1626_1042_348_V->M 0.000199681 180 chr12:121691170:T:G 1626_1013_338_K->T 0.000199681 180 chr12:121691263:T:C 1626_920_307_K->R 0.000199681 180 chr12:121693427:A:T 1626_833_278_V->E 0.000199681 180 chr12:121711875:G:C 1626_455_152_S->C 0.00199681 180 chr12:121711962:C:T 1626_368_123_C->Y 0.00858626 180 chr12:121711972:G:A 1626_358_120_R->C 0.000199681 180 chr12:121712040:C:T 1626_290_97_R->H 0.000199681 180 chr12:121712077:T:A 1626_253_85_T->S 0.411741 180 chr12:121712142:G:A 1626_188_63_A->V 0.000199681 180 chr12:121712217:C:T 1626_113_38_R->Q 0.000199681 180 chr12:121712218:G:A 1626_112_38_R->W 0.000199681 180 chr12:121712229:C:T 1626_101_34_C->Y 0.000199681 180 chr12:121712232:G:A 1626_98_33_P->L 0.000199681 180 chr12:121712263:T:C 1626_67_23_R->G 0.000599042 180 chr12:121712292:C:T 1626_38_13_R->Q 0.000199681 180 chr12:121712301:C:T 1626_29_10_S->N 0.0175719 180 chr12:121712305:G:A 1626_25_9_P->S 0.000199681 180 chr12:121712328:A:G 1626_2_1_M->T 0.000599042 180 na12878 Variants: 180 chr12:121691096:G:A 1626_1087_363_R->C 180 snyder Variants: 180 chr12:121691096:G:A 1626_1087_363_R->C 181 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000404169 gene_Name: KKCC2_HUMAN 181 list of pdbs: 181 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 181 Zimmer Variants: 181 chr12:121691096:G:A 1767_1087_363_R->C 181 chr12:121711962:C:T 1767_368_123_C->Y 181 chr12:121712077:T:A 1767_253_85_T->S 181 HGMD Variants: 181 chr12:121712077:T:A 1767_253_85_T->S 181 oneKG Variants: 181 chr12:121678531:G:A 1767_1738_580_R->W 0.000199681 181 chr12:121678558:C:T 1767_1711_571_G->S 0.00139776 181 chr12:121678567:G:A 1767_1702_568_P->S 0.000399361 181 chr12:121678569:G:A 1767_1700_567_A->V 0.00119808 181 chr12:121682943:G:A 1767_1553_518_T->I 0.000399361 181 chr12:121682973:C:T 1767_1523_508_R->H 0.000399361 181 chr12:121682986:G:A 1767_1510_504_R->W 0.000199681 181 chr12:121683021:C:T 1767_1475_492_R->H 0.000399361 181 chr12:121687639:C:T 1767_1274_425_R->H 0.000199681 181 chr12:121687673:C:T 1767_1240_414_D->N 0.000199681 181 chr12:121687801:T:G 1767_1198_400_S->R 0.000199681 181 chr12:121691096:G:A 1767_1087_363_R->C 0.241214 181 chr12:121691141:C:T 1767_1042_348_V->M 0.000199681 181 chr12:121691170:T:G 1767_1013_338_K->T 0.000199681 181 chr12:121691263:T:C 1767_920_307_K->R 0.000199681 181 chr12:121693427:A:T 1767_833_278_V->E 0.000199681 181 chr12:121711875:G:C 1767_455_152_S->C 0.00199681 181 chr12:121711962:C:T 1767_368_123_C->Y 0.00858626 181 chr12:121711972:G:A 1767_358_120_R->C 0.000199681 181 chr12:121712040:C:T 1767_290_97_R->H 0.000199681 181 chr12:121712077:T:A 1767_253_85_T->S 0.411741 181 chr12:121712142:G:A 1767_188_63_A->V 0.000199681 181 chr12:121712217:C:T 1767_113_38_R->Q 0.000199681 181 chr12:121712218:G:A 1767_112_38_R->W 0.000199681 181 chr12:121712229:C:T 1767_101_34_C->Y 0.000199681 181 chr12:121712232:G:A 1767_98_33_P->L 0.000199681 181 chr12:121712263:T:C 1767_67_23_R->G 0.000599042 181 chr12:121712292:C:T 1767_38_13_R->Q 0.000199681 181 chr12:121712301:C:T 1767_29_10_S->N 0.0175719 181 chr12:121712305:G:A 1767_25_9_P->S 0.000199681 181 chr12:121712328:A:G 1767_2_1_M->T 0.000599042 181 na12878 Variants: 181 chr12:121691096:G:A 1767_1087_363_R->C 181 snyder Variants: 181 chr12:121691096:G:A 1767_1087_363_R->C 182 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000402834 gene_Name: KKCC2_HUMAN 182 list of pdbs: 182 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 182 Zimmer Variants: 182 chr12:121691096:G:A 1767_1087_363_R->C 182 chr12:121711962:C:T 1767_368_123_C->Y 182 chr12:121712077:T:A 1767_253_85_T->S 182 HGMD Variants: 182 chr12:121712077:T:A 1767_253_85_T->S 182 oneKG Variants: 182 chr12:121678531:G:A 1767_1738_580_R->W 0.000199681 182 chr12:121678558:C:T 1767_1711_571_G->S 0.00139776 182 chr12:121678567:G:A 1767_1702_568_P->S 0.000399361 182 chr12:121678569:G:A 1767_1700_567_A->V 0.00119808 182 chr12:121682943:G:A 1767_1553_518_T->I 0.000399361 182 chr12:121682973:C:T 1767_1523_508_R->H 0.000399361 182 chr12:121682986:G:A 1767_1510_504_R->W 0.000199681 182 chr12:121683021:C:T 1767_1475_492_R->H 0.000399361 182 chr12:121687639:C:T 1767_1274_425_R->H 0.000199681 182 chr12:121687673:C:T 1767_1240_414_D->N 0.000199681 182 chr12:121687801:T:G 1767_1198_400_S->R 0.000199681 182 chr12:121691096:G:A 1767_1087_363_R->C 0.241214 182 chr12:121691141:C:T 1767_1042_348_V->M 0.000199681 182 chr12:121691170:T:G 1767_1013_338_K->T 0.000199681 182 chr12:121691263:T:C 1767_920_307_K->R 0.000199681 182 chr12:121693427:A:T 1767_833_278_V->E 0.000199681 182 chr12:121711875:G:C 1767_455_152_S->C 0.00199681 182 chr12:121711962:C:T 1767_368_123_C->Y 0.00858626 182 chr12:121711972:G:A 1767_358_120_R->C 0.000199681 182 chr12:121712040:C:T 1767_290_97_R->H 0.000199681 182 chr12:121712077:T:A 1767_253_85_T->S 0.411741 182 chr12:121712142:G:A 1767_188_63_A->V 0.000199681 182 chr12:121712217:C:T 1767_113_38_R->Q 0.000199681 182 chr12:121712218:G:A 1767_112_38_R->W 0.000199681 182 chr12:121712229:C:T 1767_101_34_C->Y 0.000199681 182 chr12:121712232:G:A 1767_98_33_P->L 0.000199681 182 chr12:121712263:T:C 1767_67_23_R->G 0.000599042 182 chr12:121712292:C:T 1767_38_13_R->Q 0.000199681 182 chr12:121712301:C:T 1767_29_10_S->N 0.0175719 182 chr12:121712305:G:A 1767_25_9_P->S 0.000199681 182 chr12:121712328:A:G 1767_2_1_M->T 0.000599042 182 na12878 Variants: 182 chr12:121691096:G:A 1767_1087_363_R->C 182 snyder Variants: 182 chr12:121691096:G:A 1767_1087_363_R->C 183 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000446440 gene_Name: KKCC2_HUMAN 183 list of pdbs: 183 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 183 Zimmer Variants: 183 chr12:121691096:G:A 1473_1087_363_R->C;HUB=PHOS&PPI;GENE=CAMKK2;CDSS=3 183 chr12:121711962:C:T 1473_368_123_C->Y;HUB=PHOS&PPI;GENE=CAMKK2;CDSS=2 183 chr12:121712077:T:A 1473_253_85_T->S;HUB=PHOS&PPI;GENE=CAMKK2;CDSS=2 183 HGMD Variants: 183 chr12:121712077:T:A 1473_253_85_T->S 183 oneKG Variants: 183 chr12:121682943:G:A 1473_1424_475_T->I 0.000399361 183 chr12:121682973:C:T 1473_1394_465_R->H 0.000399361 183 chr12:121682986:G:A 1473_1381_461_R->W 0.000199681 183 chr12:121683021:C:T 1473_1346_449_R->H 0.000399361 183 chr12:121687639:C:T 1473_1274_425_R->H 0.000199681 183 chr12:121687673:C:T 1473_1240_414_D->N 0.000199681 183 chr12:121687801:T:G 1473_1198_400_S->R 0.000199681 183 chr12:121691096:G:A 1473_1087_363_R->C 0.241214 183 chr12:121691141:C:T 1473_1042_348_V->M 0.000199681 183 chr12:121691170:T:G 1473_1013_338_K->T 0.000199681 183 chr12:121691263:T:C 1473_920_307_K->R 0.000199681 183 chr12:121693427:A:T 1473_833_278_V->E 0.000199681 183 chr12:121711875:G:C 1473_455_152_S->C 0.00199681 183 chr12:121711962:C:T 1473_368_123_C->Y 0.00858626 183 chr12:121711972:G:A 1473_358_120_R->C 0.000199681 183 chr12:121712040:C:T 1473_290_97_R->H 0.000199681 183 chr12:121712077:T:A 1473_253_85_T->S 0.411741 183 chr12:121712142:G:A 1473_188_63_A->V 0.000199681 183 chr12:121712217:C:T 1473_113_38_R->Q 0.000199681 183 chr12:121712218:G:A 1473_112_38_R->W 0.000199681 183 chr12:121712229:C:T 1473_101_34_C->Y 0.000199681 183 chr12:121712232:G:A 1473_98_33_P->L 0.000199681 183 chr12:121712263:T:C 1473_67_23_R->G 0.000599042 183 chr12:121712292:C:T 1473_38_13_R->Q 0.000199681 183 chr12:121712301:C:T 1473_29_10_S->N 0.0175719 183 chr12:121712305:G:A 1473_25_9_P->S 0.000199681 183 chr12:121712328:A:G 1473_2_1_M->T 0.000599042 183 na12878 Variants: 183 chr12:121691096:G:A 1473_1087_363_R->C 183 snyder Variants: 183 chr12:121691096:G:A 1473_1087_363_R->C 184 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110931_ENST00000392473 gene_Name: KKCC2_HUMAN 184 list of pdbs: 184 2ZV2 pdb_description: 03-Nov-09 X-ray 2.400 Crystal structure of human calcium/calmodulin-dependent prot kinase 2, beta, camkk2 kinase domain in complex with sto-60 184 Zimmer Variants: 184 chr12:121691096:G:A 1602_1087_363_R->C 184 chr12:121711962:C:T 1602_368_123_C->Y 184 chr12:121712077:T:A 1602_253_85_T->S 184 HGMD Variants: 184 chr12:121712077:T:A 1602_253_85_T->S 184 oneKG Variants: 184 chr12:121682943:G:A 1602_1553_518_T->I 0.000399361 184 chr12:121682973:C:T 1602_1523_508_R->H 0.000399361 184 chr12:121682986:G:A 1602_1510_504_R->W 0.000199681 184 chr12:121683021:C:T 1602_1475_492_R->H 0.000399361 184 chr12:121687639:C:T 1602_1274_425_R->H 0.000199681 184 chr12:121687673:C:T 1602_1240_414_D->N 0.000199681 184 chr12:121687801:T:G 1602_1198_400_S->R 0.000199681 184 chr12:121691096:G:A 1602_1087_363_R->C 0.241214 184 chr12:121691141:C:T 1602_1042_348_V->M 0.000199681 184 chr12:121691170:T:G 1602_1013_338_K->T 0.000199681 184 chr12:121691263:T:C 1602_920_307_K->R 0.000199681 184 chr12:121693427:A:T 1602_833_278_V->E 0.000199681 184 chr12:121711875:G:C 1602_455_152_S->C 0.00199681 184 chr12:121711962:C:T 1602_368_123_C->Y 0.00858626 184 chr12:121711972:G:A 1602_358_120_R->C 0.000199681 184 chr12:121712040:C:T 1602_290_97_R->H 0.000199681 184 chr12:121712077:T:A 1602_253_85_T->S 0.411741 184 chr12:121712142:G:A 1602_188_63_A->V 0.000199681 184 chr12:121712217:C:T 1602_113_38_R->Q 0.000199681 184 chr12:121712218:G:A 1602_112_38_R->W 0.000199681 184 chr12:121712229:C:T 1602_101_34_C->Y 0.000199681 184 chr12:121712232:G:A 1602_98_33_P->L 0.000199681 184 chr12:121712263:T:C 1602_67_23_R->G 0.000599042 184 chr12:121712292:C:T 1602_38_13_R->Q 0.000199681 184 chr12:121712301:C:T 1602_29_10_S->N 0.0175719 184 chr12:121712305:G:A 1602_25_9_P->S 0.000199681 184 chr12:121712328:A:G 1602_2_1_M->T 0.000599042 184 na12878 Variants: 184 chr12:121691096:G:A 1602_1087_363_R->C 184 snyder Variants: 184 chr12:121691096:G:A 1602_1087_363_R->C 185 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139144_ENST00000433979 gene_Name: P3C2G_HUMAN 185 list of pdbs: 185 2WWE pdb_description: 03-Nov-09 X-ray 1.250 Crystal structure of the phox homology domain of human phosphoinositide-3-kinase-c2-gamma 185 Zimmer Variants: 185 chr12:18435452:C:T 4338_437_146_P->L 185 HGMD Variants: 185 chr12:18435452:C:T 4338_437_146_P->L 185 oneKG Variants: 185 chr12:18435029:G:A 4338_14_5_W->* 0.000199681 185 chr12:18435554:C:A 4338_539_180_S->* 0.000399361 185 chr12:18466993:C:T 4338_1132_378_R->* 0.000199681 185 chr12:18491420:G:T 4338_1333_445_E->* 0.000199681 185 chr12:18641450:C:T 4338_2449_817_Q->* 0.000199681 185 chr12:18649003:C:G 4338_2678_893_S->* 0.000199681 185 chr12:18650589:C:T 4338_2800_934_Q->* 0.000199681 185 chr12:18691094:C:T 4338_3205_1069_R->* 0.000199681 185 chr12:18747470:C:T 4338_3931_1311_Q->* 0.000199681 185 chr12:18435035:C:T 4338_20_7_T->M 0.000798722 185 chr12:18435037:G:T 4338_22_8_D->Y 0.000599042 185 chr12:18435098:A:G 4338_83_28_N->S 0.000199681 185 chr12:18435125:G:A 4338_110_37_S->N 0.000199681 185 chr12:18435145:G:A 4338_130_44_V->I 0.000199681 185 chr12:18435151:G:A 4338_136_46_E->K 0.000199681 185 chr12:18435220:C:T 4338_205_69_P->S 0.000199681 185 chr12:18435296:G:A 4338_281_94_R->H 0.000199681 185 chr12:18435345:T:A 4338_330_110_S->R 0.000199681 185 chr12:18435379:A:C 4338_364_122_K->Q 0.000798722 185 chr12:18435452:C:T 4338_437_146_P->L 0.353235 185 chr12:18435573:C:A 4338_558_186_F->L 0.000199681 185 chr12:18435658:G:A 4338_643_215_G->R 0.000599042 185 chr12:18435662:T:C 4338_647_216_M->T 0.000199681 185 chr12:18439797:T:C 4338_695_232_I->T 0.00219649 185 chr12:18443809:C:A 4338_782_261_A->E 0.0271565 185 chr12:18443908:T:C 4338_881_294_I->T 0.000399361 185 chr12:18446924:T:G 4338_1009_337_C->G 0.00359425 185 chr12:18446939:T:C 4338_1024_342_F->L 0.000199681 185 chr12:18473896:C:T 4338_1138_380_H->Y 0.000199681 185 chr12:18473932:C:G 4338_1174_392_L->V 0.00339457 185 chr12:18477973:T:C 4338_1213_405_C->R 0.000399361 185 chr12:18491453:C:A 4338_1366_456_L->I 0.000199681 185 chr12:18491459:C:A 4338_1372_458_L->I 0.000998403 185 chr12:18491478:G:C 4338_1391_464_G->A 0.000199681 185 chr12:18496285:T:C 4338_1420_474_S->P 0.000599042 185 chr12:18499607:A:G 4338_1462_488_T->A 0.00199681 185 chr12:18499611:C:T 4338_1466_489_S->F 0.000798722 185 chr12:18499628:A:G 4338_1483_495_N->D 0.00279553 185 chr12:18499629:A:T 4338_1484_495_N->I 0.00179712 185 chr12:18499770:G:A 4338_1625_542_R->K 0.000199681 185 chr12:18524119:A:G 4338_1631_544_N->S 0.000199681 185 chr12:18524208:T:A 4338_1720_574_L->I 0.000199681 185 chr12:18534713:G:A 4338_1771_591_G->R 0.000399361 185 chr12:18534719:A:T 4338_1777_593_M->L 0.000199681 185 chr12:18534789:G:A 4338_1847_616_S->N 0.000199681 185 chr12:18544162:T:C 4338_1979_660_L->P 0.000599042 185 chr12:18544179:C:T 4338_1996_666_P->S 0.00279553 185 chr12:18544186:T:C 4338_2003_668_L->P 0.000199681 185 chr12:18552594:C:T 4338_2005_669_L->F 0.00119808 185 chr12:18552615:T:C 4338_2026_676_Y->H 0.000199681 185 chr12:18552630:C:T 4338_2041_681_R->C 0.000199681 185 chr12:18552703:C:A 4338_2114_705_T->N 0.000199681 185 chr12:18552729:A:G 4338_2140_714_R->G 0.000199681 185 chr12:18552733:G:C 4338_2144_715_R->T 0.00139776 185 chr12:18552760:C:G 4338_2171_724_A->G 0.000599042 185 chr12:18576899:C:A 4338_2307_769_N->K 0.00119808 185 chr12:18641405:G:A 4338_2404_802_E->K 0.000199681 185 chr12:18641540:T:C 4338_2539_847_S->P 0.000199681 185 chr12:18644404:T:C 4338_2582_861_I->T 0.000399361 185 chr12:18644460:C:A 4338_2638_880_P->T 0.000199681 185 chr12:18644470:G:C 4338_2648_883_C->S 0.000199681 185 chr12:18649057:C:T 4338_2732_911_P->L 0.374401 185 chr12:18650563:A:T 4338_2774_925_D->V 0.000199681 185 chr12:18650610:A:C 4338_2821_941_N->H 0.000599042 185 chr12:18650645:G:A 4338_2856_952_M->I 0.000199681 185 chr12:18656259:C:T 4338_2938_980_H->Y 0.000798722 185 chr12:18658244:T:C 4338_3049_1017_Y->H 0.000798722 185 chr12:18658248:C:T 4338_3053_1018_S->F 0.000199681 185 chr12:18658277:A:G 4338_3082_1028_I->V 0.000199681 185 chr12:18658295:C:T 4338_3100_1034_R->C 0.000199681 185 chr12:18658296:G:A 4338_3101_1034_R->H 0.000199681 185 chr12:18658301:A:T 4338_3106_1036_N->Y 0.000199681 185 chr12:18691143:G:A 4338_3254_1085_G->D 0.000199681 185 chr12:18699282:T:C 4338_3383_1128_L->P 0.000199681 185 chr12:18699285:G:A 4338_3386_1129_S->N 0.000199681 185 chr12:18699304:A:C 4338_3405_1135_K->N 0.000199681 185 chr12:18699324:G:A 4338_3425_1142_R->H 0.000199681 185 chr12:18699348:C:A 4338_3449_1150_A->E 0.000199681 185 chr12:18715676:G:T 4338_3507_1169_L->F 0.000599042 185 chr12:18715717:G:A 4338_3548_1183_S->N 0.000199681 185 chr12:18716342:A:T 4338_3689_1230_N->I 0.000199681 185 chr12:18719883:G:T 4338_3780_1260_E->D 0.000998403 185 chr12:18719887:C:T 4338_3784_1262_P->S 0.00179712 185 chr12:18719921:A:G 4338_3818_1273_D->G 0.000199681 185 chr12:18719939:A:G 4338_3836_1279_D->G 0.00459265 185 chr12:18719942:T:G 4338_3839_1280_L->R 0.000199681 185 chr12:18719972:T:G 4338_3869_1290_V->G 0.0874601 185 chr12:18719987:C:A 4338_3884_1295_T->K 0.000199681 185 chr12:18762499:T:G 4338_3995_1332_V->G 0.000199681 185 chr12:18762512:A:G 4338_4008_1336_I->M 0.000399361 185 chr12:18793369:C:T 4338_4066_1356_P->S 0.000199681 185 chr12:18793370:C:G 4338_4067_1356_P->R 0.00119808 185 chr12:18793382:C:T 4338_4079_1360_A->V 0.00698882 185 chr12:18793418:A:G 4338_4115_1372_Y->C 0.000199681 185 chr12:18793432:C:T 4338_4129_1377_R->C 0.000798722 185 chr12:18793433:G:A 4338_4130_1377_R->H 0.00159744 185 chr12:18793466:C:T 4338_4163_1388_T->M 0.000199681 185 chr12:18800810:G:A 4338_4186_1396_V->I 0.000199681 185 chr12:18800934:G:C 4338_4310_1437_W->S 0.000199681 185 na12878 Variants: 185 chr12:18443809:C:A 4338_782_261_A->E 185 chr12:18649057:C:T 4338_2732_911_P->L 185 snyder Variants: 185 chr12:18800840:G:T 4338_4216_1406_G->* 186 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000139144_ENST00000266497 gene_Name: P3C2G_HUMAN 186 list of pdbs: 186 2WWE pdb_description: 03-Nov-09 X-ray 1.250 Crystal structure of the phox homology domain of human phosphoinositide-3-kinase-c2-gamma 186 Zimmer Variants: 186 chr12:18435452:C:T 4338_437_146_P->L 186 HGMD Variants: 186 chr12:18435452:C:T 4338_437_146_P->L 186 oneKG Variants: 186 chr12:18435029:G:A 4338_14_5_W->* 0.000199681 186 chr12:18435554:C:A 4338_539_180_S->* 0.000399361 186 chr12:18466993:C:T 4338_1132_378_R->* 0.000199681 186 chr12:18491420:G:T 4338_1333_445_E->* 0.000199681 186 chr12:18641450:C:T 4338_2449_817_Q->* 0.000199681 186 chr12:18649003:C:G 4338_2678_893_S->* 0.000199681 186 chr12:18650589:C:T 4338_2800_934_Q->* 0.000199681 186 chr12:18691094:C:T 4338_3205_1069_R->* 0.000199681 186 chr12:18747470:C:T 4338_3931_1311_Q->* 0.000199681 186 chr12:18435035:C:T 4338_20_7_T->M 0.000798722 186 chr12:18435037:G:T 4338_22_8_D->Y 0.000599042 186 chr12:18435098:A:G 4338_83_28_N->S 0.000199681 186 chr12:18435125:G:A 4338_110_37_S->N 0.000199681 186 chr12:18435145:G:A 4338_130_44_V->I 0.000199681 186 chr12:18435151:G:A 4338_136_46_E->K 0.000199681 186 chr12:18435220:C:T 4338_205_69_P->S 0.000199681 186 chr12:18435296:G:A 4338_281_94_R->H 0.000199681 186 chr12:18435345:T:A 4338_330_110_S->R 0.000199681 186 chr12:18435379:A:C 4338_364_122_K->Q 0.000798722 186 chr12:18435452:C:T 4338_437_146_P->L 0.353235 186 chr12:18435573:C:A 4338_558_186_F->L 0.000199681 186 chr12:18435658:G:A 4338_643_215_G->R 0.000599042 186 chr12:18435662:T:C 4338_647_216_M->T 0.000199681 186 chr12:18439797:T:C 4338_695_232_I->T 0.00219649 186 chr12:18443809:C:A 4338_782_261_A->E 0.0271565 186 chr12:18443908:T:C 4338_881_294_I->T 0.000399361 186 chr12:18446924:T:G 4338_1009_337_C->G 0.00359425 186 chr12:18446939:T:C 4338_1024_342_F->L 0.000199681 186 chr12:18473896:C:T 4338_1138_380_H->Y 0.000199681 186 chr12:18473932:C:G 4338_1174_392_L->V 0.00339457 186 chr12:18477973:T:C 4338_1213_405_C->R 0.000399361 186 chr12:18491453:C:A 4338_1366_456_L->I 0.000199681 186 chr12:18491459:C:A 4338_1372_458_L->I 0.000998403 186 chr12:18491478:G:C 4338_1391_464_G->A 0.000199681 186 chr12:18496285:T:C 4338_1420_474_S->P 0.000599042 186 chr12:18499607:A:G 4338_1462_488_T->A 0.00199681 186 chr12:18499611:C:T 4338_1466_489_S->F 0.000798722 186 chr12:18499628:A:G 4338_1483_495_N->D 0.00279553 186 chr12:18499629:A:T 4338_1484_495_N->I 0.00179712 186 chr12:18499770:G:A 4338_1625_542_R->K 0.000199681 186 chr12:18524119:A:G 4338_1631_544_N->S 0.000199681 186 chr12:18524208:T:A 4338_1720_574_L->I 0.000199681 186 chr12:18534713:G:A 4338_1771_591_G->R 0.000399361 186 chr12:18534719:A:T 4338_1777_593_M->L 0.000199681 186 chr12:18534789:G:A 4338_1847_616_S->N 0.000199681 186 chr12:18544162:T:C 4338_1979_660_L->P 0.000599042 186 chr12:18544179:C:T 4338_1996_666_P->S 0.00279553 186 chr12:18544186:T:C 4338_2003_668_L->P 0.000199681 186 chr12:18552594:C:T 4338_2005_669_L->F 0.00119808 186 chr12:18552615:T:C 4338_2026_676_Y->H 0.000199681 186 chr12:18552630:C:T 4338_2041_681_R->C 0.000199681 186 chr12:18552703:C:A 4338_2114_705_T->N 0.000199681 186 chr12:18552729:A:G 4338_2140_714_R->G 0.000199681 186 chr12:18552733:G:C 4338_2144_715_R->T 0.00139776 186 chr12:18552760:C:G 4338_2171_724_A->G 0.000599042 186 chr12:18576899:C:A 4338_2307_769_N->K 0.00119808 186 chr12:18641405:G:A 4338_2404_802_E->K 0.000199681 186 chr12:18641540:T:C 4338_2539_847_S->P 0.000199681 186 chr12:18644404:T:C 4338_2582_861_I->T 0.000399361 186 chr12:18644460:C:A 4338_2638_880_P->T 0.000199681 186 chr12:18644470:G:C 4338_2648_883_C->S 0.000199681 186 chr12:18649057:C:T 4338_2732_911_P->L 0.374401 186 chr12:18650563:A:T 4338_2774_925_D->V 0.000199681 186 chr12:18650610:A:C 4338_2821_941_N->H 0.000599042 186 chr12:18650645:G:A 4338_2856_952_M->I 0.000199681 186 chr12:18656259:C:T 4338_2938_980_H->Y 0.000798722 186 chr12:18658244:T:C 4338_3049_1017_Y->H 0.000798722 186 chr12:18658248:C:T 4338_3053_1018_S->F 0.000199681 186 chr12:18658277:A:G 4338_3082_1028_I->V 0.000199681 186 chr12:18658295:C:T 4338_3100_1034_R->C 0.000199681 186 chr12:18658296:G:A 4338_3101_1034_R->H 0.000199681 186 chr12:18658301:A:T 4338_3106_1036_N->Y 0.000199681 186 chr12:18691143:G:A 4338_3254_1085_G->D 0.000199681 186 chr12:18699282:T:C 4338_3383_1128_L->P 0.000199681 186 chr12:18699285:G:A 4338_3386_1129_S->N 0.000199681 186 chr12:18699304:A:C 4338_3405_1135_K->N 0.000199681 186 chr12:18699324:G:A 4338_3425_1142_R->H 0.000199681 186 chr12:18699348:C:A 4338_3449_1150_A->E 0.000199681 186 chr12:18715676:G:T 4338_3507_1169_L->F 0.000599042 186 chr12:18715717:G:A 4338_3548_1183_S->N 0.000199681 186 chr12:18716342:A:T 4338_3689_1230_N->I 0.000199681 186 chr12:18719883:G:T 4338_3780_1260_E->D 0.000998403 186 chr12:18719887:C:T 4338_3784_1262_P->S 0.00179712 186 chr12:18719921:A:G 4338_3818_1273_D->G 0.000199681 186 chr12:18719939:A:G 4338_3836_1279_D->G 0.00459265 186 chr12:18719942:T:G 4338_3839_1280_L->R 0.000199681 186 chr12:18719972:T:G 4338_3869_1290_V->G 0.0874601 186 chr12:18719987:C:A 4338_3884_1295_T->K 0.000199681 186 chr12:18762499:T:G 4338_3995_1332_V->G 0.000199681 186 chr12:18762512:A:G 4338_4008_1336_I->M 0.000399361 186 chr12:18793369:C:T 4338_4066_1356_P->S 0.000199681 186 chr12:18793370:C:G 4338_4067_1356_P->R 0.00119808 186 chr12:18793382:C:T 4338_4079_1360_A->V 0.00698882 186 chr12:18793418:A:G 4338_4115_1372_Y->C 0.000199681 186 chr12:18793432:C:T 4338_4129_1377_R->C 0.000798722 186 chr12:18793433:G:A 4338_4130_1377_R->H 0.00159744 186 chr12:18793466:C:T 4338_4163_1388_T->M 0.000199681 186 chr12:18800810:G:A 4338_4186_1396_V->I 0.000199681 186 chr12:18800934:G:C 4338_4310_1437_W->S 0.000199681 186 na12878 Variants: 186 chr12:18443809:C:A 4338_782_261_A->E 186 chr12:18649057:C:T 4338_2732_911_P->L 186 snyder Variants: 186 chr12:18800840:G:T 4338_4216_1406_G->* 187 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000188906_ENST00000298910 gene_Name: LRRK2_HUMAN 187 list of pdbs: 187 3D6T pdb_description: 10-Jun-08 X-ray 2.430 Structure of the roc domain from the parkinson's disease-ass leucine-rich repeat kinase 2 reveals a dimeric gtpase 187 2ZEJ pdb_description: 22-Jan-08 X-ray 2.000 Structure of the roc domain from the parkinson's disease-ass leucine-rich repeat kinase 2 reveals a dimeric gtpase 187 Zimmer Variants: 187 chr12:40758652:T:C 7584_7190_2397_M->T;GNEG=Yes;GENE=LRRK2;CDSS=3;DBRECUR=LRRK2 187 chr12:40619082:G:A 7584_149_50_R->H 187 HGMD Variants: 187 chr12:40671804:C:T 7584_2056_686_Q->* 187 chr12:40702309:C:T 7584_4000_1334_R->* 187 chr12:40717072:G:T 7584_5620_1874_E->* 187 chr12:40722188:C:T 7584_5683_1895_R->* 187 chr12:40734124:C:T 7584_5977_1993_R->* 187 chr12:40758823:C:A 7584_7361_2454_S->* 187 chr12:40618961:G:A 7584_28_10_E->K 187 chr12:40619360:C:T 7584_155_52_S->F 187 chr12:40626185:A:G 7584_347_116_Q->R 187 chr12:40629436:T:C 7584_356_119_L->P 187 chr12:40631852:A:G 7584_518_173_N->S 187 chr12:40634287:T:G 7584_574_192_S->A 187 chr12:40634345:C:T 7584_632_211_A->V 187 chr12:40637419:A:T 7584_774_258_K->N 187 chr12:40643661:T:C 7584_872_291_V->A 187 chr12:40643724:C:T 7584_935_312_A->V 187 chr12:40645075:G:A 7584_1000_334_E->K 187 chr12:40645163:A:G 7584_1088_363_N->S 187 chr12:40645297:C:T 7584_1132_378_L->F 187 chr12:40646786:C:T 7584_1256_419_A->V 187 chr12:40657677:A:G 7584_1630_544_K->E 187 chr12:40657700:C:G 7584_1653_551_N->K 187 chr12:40668463:A:G 7584_1735_579_M->V 187 chr12:40668701:A:G 7584_1847_616_K->R 187 chr12:40671730:C:T 7584_1982_661_S->F 187 chr12:40671956:A:G 7584_2134_712_M->V 187 chr12:40677699:C:T 7584_2264_755_P->L 187 chr12:40677735:G:A 7584_2300_767_R->H 187 chr12:40677787:C:A 7584_2352_784_S->R 187 chr12:40677791:A:T 7584_2356_786_I->F 187 chr12:40677813:G:T 7584_2378_793_R->M 187 chr12:40677863:A:G 7584_2428_810_I->V 187 chr12:40681183:T:A 7584_2531_844_I->N 187 chr12:40681306:G:A 7584_2654_885_S->N 187 chr12:40687354:A:C 7584_2697_899_E->D 187 chr12:40687426:G:C 7584_2769_923_Q->H 187 chr12:40687446:A:G 7584_2789_930_Q->R 187 chr12:40688681:G:A 7584_2843_948_R->Q 187 chr12:40689268:G:A 7584_2918_973_S->N 187 chr12:40692148:G:A 7584_3200_1067_R->Q 187 chr12:40692235:C:G 7584_3287_1096_S->C 187 chr12:40692281:G:T 7584_3333_1111_Q->H 187 chr12:40692927:A:G 7584_3364_1122_I->V 187 chr12:40693014:G:A 7584_3451_1151_A->T 187 chr12:40693057:T:C 7584_3494_1165_L->P 187 chr12:40696668:A:G 7584_3574_1192_I->V 187 chr12:40697822:C:G 7584_3663_1221_N->K 187 chr12:40697840:T:G 7584_3681_1227_F->L 187 chr12:40697842:G:C 7584_3683_1228_S->T 187 chr12:40702269:G:T 7584_3960_1320_R->S 187 chr12:40702283:G:A 7584_3974_1325_R->Q 187 chr12:40702327:G:A 7584_4018_1340_V->M 187 chr12:40702420:A:G 7584_4111_1371_I->V 187 chr12:40702426:G:A 7584_4117_1373_V->M 187 chr12:40702911:G:A 7584_4193_1398_R->H 187 chr12:40702947:C:T 7584_4229_1410_T->M 187 chr12:40703027:A:C 7584_4309_1437_N->H 187 chr12:40703028:A:G 7584_4310_1437_N->S 187 chr12:40704236:C:G 7584_4321_1441_R->G 187 chr12:40704236:C:T 7584_4321_1441_R->C 187 chr12:40704237:G:A 7584_4322_1441_R->H 187 chr12:40704239:G:C 7584_4324_1442_A->P 187 chr12:40704263:G:A 7584_4348_1450_V->I 187 chr12:40704306:C:G 7584_4391_1464_A->G 187 chr12:40704317:A:G 7584_4402_1468_K->E 187 chr12:40704363:G:A 7584_4448_1483_R->Q 187 chr12:40707778:G:A 7584_4541_1514_R->Q 187 chr12:40707796:G:C 7584_4559_1520_G->A 187 chr12:40713800:T:C 7584_4838_1613_V->A 187 chr12:40713838:A:G 7584_4876_1626_I->V 187 chr12:40713845:G:C 7584_4883_1628_R->P 187 chr12:40713845:G:A 7584_4883_1628_R->H 187 chr12:40713899:T:C 7584_4937_1646_M->T 187 chr12:40713901:T:A 7584_4939_1647_S->T 187 chr12:40714916:A:G 7584_5096_1699_Y->C 187 chr12:40715840:G:A 7584_5174_1725_R->Q 187 chr12:40715849:G:A 7584_5183_1728_R->H 187 chr12:40715849:G:T 7584_5183_1728_R->L 187 chr12:40715932:G:T 7584_5266_1756_D->Y 187 chr12:40715933:A:G 7584_5267_1756_D->G 187 chr12:40715947:A:C 7584_5281_1761_S->R 187 chr12:40716124:G:A 7584_5321_1774_C->Y 187 chr12:40716188:G:T 7584_5385_1795_L->F 187 chr12:40716220:C:T 7584_5417_1806_T->I 187 chr12:40716270:C:A 7584_5467_1823_Q->K 187 chr12:40717057:A:G 7584_5605_1869_M->V 187 chr12:40717058:T:C 7584_5606_1869_M->T 187 chr12:40728833:G:A 7584_5822_1941_R->H 187 chr12:40728893:A:G 7584_5882_1961_Q->R 187 chr12:40734163:T:C 7584_6016_2006_Y->H 187 chr12:40734175:G:A 7584_6028_2010_A->T 187 chr12:40734182:T:C 7584_6035_2012_I->T 187 chr12:40734202:G:A 7584_6055_2019_G->S 187 chr12:40734205:A:C 7584_6058_2020_I->L 187 chr12:40734206:T:C 7584_6059_2020_I->T 187 chr12:40734206:T:G 7584_6059_2020_I->S 187 chr12:40734238:A:T 7584_6091_2031_T->S 187 chr12:40740686:A:G 7584_6241_2081_N->D 187 chr12:40745374:T:A 7584_6415_2139_C->S 187 chr12:40745381:C:T 7584_6422_2141_T->M 187 chr12:40745387:G:A 7584_6428_2143_R->H 187 chr12:40745482:G:C 7584_6523_2175_D->H 187 chr12:40745525:A:G 7584_6566_2189_Y->C 187 chr12:40748276:A:C 7584_6752_2251_N->T 187 chr12:40753147:C:T 7584_6929_2310_T->M 187 chr12:40757242:C:T 7584_7067_2356_T->I 187 chr12:40757328:G:A 7584_7153_2385_G->R 187 chr12:40757343:G:A 7584_7168_2390_V->M 187 chr12:40758652:T:C 7584_7190_2397_M->T 187 chr12:40758762:A:G 7584_7300_2434_I->V 187 chr12:40760814:T:A 7584_7397_2466_L->H 187 oneKG Variants: 187 chr12:40699748:T:A 7584_3939_1313_C->* 0.000399361 187 chr12:40704362:C:T 7584_4447_1483_R->* 0.000199681 187 chr12:40619082:G:A 7584_149_50_R->H 0.030751 187 chr12:40619363:A:G 7584_158_53_K->R 0.000599042 187 chr12:40626150:T:A 7584_312_104_D->E 0.000199681 187 chr12:40626185:A:G 7584_347_116_Q->R 0.000798722 187 chr12:40629436:T:C 7584_356_119_L->P 0.000798722 187 chr12:40629502:T:G 7584_422_141_L->R 0.000199681 187 chr12:40634337:G:T 7584_624_208_L->F 0.000599042 187 chr12:40634345:C:T 7584_632_211_A->V 0.000199681 187 chr12:40634404:T:C 7584_691_231_S->P 0.000399361 187 chr12:40637358:A:T 7584_713_238_N->I 0.000199681 187 chr12:40637381:A:C 7584_736_246_N->H 0.000798722 187 chr12:40637429:A:G 7584_784_262_M->V 0.000199681 187 chr12:40637450:G:C 7584_805_269_V->L 0.000199681 187 chr12:40643658:A:G 7584_869_290_E->G 0.000199681 187 chr12:40643678:A:G 7584_889_297_K->E 0.000199681 187 chr12:40645075:G:A 7584_1000_334_E->K 0.00139776 187 chr12:40645093:G:A 7584_1018_340_D->N 0.000199681 187 chr12:40645171:G:A 7584_1096_366_V->M 0.000199681 187 chr12:40645282:G:A 7584_1117_373_A->T 0.000798722 187 chr12:40646786:C:T 7584_1256_419_A->V 0.00139776 187 chr12:40651071:T:C 7584_1310_437_L->S 0.000199681 187 chr12:40651085:C:T 7584_1324_442_H->Y 0.000399361 187 chr12:40657663:A:G 7584_1616_539_K->R 0.000199681 187 chr12:40657668:G:A 7584_1621_541_D->N 0.000199681 187 chr12:40657700:C:G 7584_1653_551_N->K 0.0994409 187 chr12:40668468:A:T 7584_1740_580_L->F 0.000798722 187 chr12:40668469:T:A 7584_1741_581_S->T 0.000199681 187 chr12:40668473:T:C 7584_1745_582_L->P 0.000199681 187 chr12:40668512:T:A 7584_1784_595_M->K 0.000199681 187 chr12:40671722:G:T 7584_1974_658_L->F 0.000199681 187 chr12:40671793:A:G 7584_2045_682_N->S 0.000199681 187 chr12:40671795:A:G 7584_2047_683_I->V 0.000199681 187 chr12:40671989:A:G 7584_2167_723_I->V 0.0403355 187 chr12:40671994:G:A 7584_2172_724_M->I 0.000199681 187 chr12:40677699:C:T 7584_2264_755_P->L 0.00159744 187 chr12:40677746:G:T 7584_2311_771_V->L 0.000399361 187 chr12:40677791:A:T 7584_2356_786_I->F 0.000199681 187 chr12:40677813:G:T 7584_2378_793_R->M 0.000199681 187 chr12:40677840:G:A 7584_2405_802_S->N 0.000199681 187 chr12:40681245:T:C 7584_2593_865_S->P 0.000399361 187 chr12:40687354:A:C 7584_2697_899_E->D 0.000599042 187 chr12:40687418:G:A 7584_2761_921_V->I 0.000199681 187 chr12:40687426:G:C 7584_2769_923_Q->H 0.000199681 187 chr12:40687431:G:A 7584_2774_925_C->Y 0.000399361 187 chr12:40688702:C:T 7584_2864_955_S->L 0.000399361 187 chr12:40688711:C:T 7584_2873_958_S->L 0.000399361 187 chr12:40689250:A:G 7584_2900_967_H->R 0.000199681 187 chr12:40689265:A:G 7584_2915_972_D->G 0.000199681 187 chr12:40689394:A:G 7584_3044_1015_K->R 0.000199681 187 chr12:40689421:C:T 7584_3071_1024_T->M 0.000199681 187 chr12:40692240:G:T 7584_3292_1098_V->L 0.000199681 187 chr12:40692281:G:T 7584_3333_1111_Q->H 0.00559105 187 chr12:40693023:A:G 7584_3460_1154_K->E 0.000199681 187 chr12:40696662:G:A 7584_3568_1190_E->K 0.000399361 187 chr12:40697796:G:A 7584_3637_1213_G->S 0.000199681 187 chr12:40697802:G:A 7584_3643_1215_A->T 0.000199681 187 chr12:40699593:C:G 7584_3784_1262_P->A 0.00878594 187 chr12:40699606:G:C 7584_3797_1266_C->S 0.000199681 187 chr12:40699758:G:T 7584_3949_1317_D->Y 0.000199681 187 chr12:40702269:G:T 7584_3960_1320_R->S 0.000998403 187 chr12:40702277:A:G 7584_3968_1323_Q->R 0.000199681 187 chr12:40702343:G:A 7584_4034_1345_S->N 0.000199681 187 chr12:40702420:A:G 7584_4111_1371_I->V 0.00119808 187 chr12:40702451:G:C 7584_4142_1381_R->T 0.000199681 187 chr12:40702471:C:A 7584_4162_1388_L->I 0.000199681 187 chr12:40702911:G:A 7584_4193_1398_R->H 0.100439 187 chr12:40702947:C:T 7584_4229_1410_T->M 0.00638978 187 chr12:40704252:C:T 7584_4337_1446_P->L 0.000998403 187 chr12:40704263:G:A 7584_4348_1450_V->I 0.000199681 187 chr12:40704290:G:A 7584_4375_1459_E->K 0.000199681 187 chr12:40704311:A:G 7584_4396_1466_M->V 0.000199681 187 chr12:40704425:A:C 7584_4510_1504_I->L 0.000199681 187 chr12:40707778:G:A 7584_4541_1514_R->Q 0.00159744 187 chr12:40707861:C:T 7584_4624_1542_P->S 0.0131789 187 chr12:40707919:A:G 7584_4682_1561_Q->R 0.000199681 187 chr12:40707926:G:C 7584_4689_1563_Q->H 0.000199681 187 chr12:40709052:A:C 7584_4777_1593_S->R 0.000199681 187 chr12:40713808:G:A 7584_4846_1616_E->K 0.000199681 187 chr12:40713812:G:A 7584_4850_1617_G->D 0.000199681 187 chr12:40713844:C:T 7584_4882_1628_R->C 0.000599042 187 chr12:40713845:G:C 7584_4883_1628_R->P 0.00638978 187 chr12:40713874:A:C 7584_4912_1638_K->Q 0.000199681 187 chr12:40713899:T:C 7584_4937_1646_M->T 0.00479233 187 chr12:40713901:T:A 7584_4939_1647_S->T 0.285942 187 chr12:40713907:T:C 7584_4945_1649_Y->H 0.000199681 187 chr12:40713950:G:C 7584_4988_1663_G->A 0.000199681 187 chr12:40714949:A:G 7584_5129_1710_N->S 0.000199681 187 chr12:40715921:C:T 7584_5255_1752_S->F 0.000199681 187 chr12:40715932:G:T 7584_5266_1756_D->Y 0.000199681 187 chr12:40716268:A:G 7584_5465_1822_H->R 0.000199681 187 chr12:40717058:T:C 7584_5606_1869_M->T 0.000199681 187 chr12:40717067:A:G 7584_5615_1872_N->S 0.000199681 187 chr12:40728833:G:A 7584_5822_1941_R->H 0.000399361 187 chr12:40728881:G:T 7584_5870_1957_R->L 0.000199681 187 chr12:40734202:G:A 7584_6055_2019_G->S 0.000199681 187 chr12:40740620:T:C 7584_6175_2059_F->L 0.000199681 187 chr12:40740686:A:G 7584_6241_2081_N->D 0.00978435 187 chr12:40745525:A:G 7584_6566_2189_Y->C 0.000599042 187 chr12:40748276:A:C 7584_6752_2251_N->T 0.000199681 187 chr12:40753202:T:G 7584_6984_2328_N->K 0.000199681 187 chr12:40753241:C:A 7584_7023_2341_S->R 0.000199681 187 chr12:40757205:T:G 7584_7030_2344_F->V 0.000199681 187 chr12:40757211:T:C 7584_7036_2346_Y->H 0.000199681 187 chr12:40757328:G:A 7584_7153_2385_G->R 0.00479233 187 chr12:40758652:T:C 7584_7190_2397_M->T 0.448283 187 chr12:40758796:T:C 7584_7334_2445_I->T 0.000199681 187 chr12:40760846:C:T 7584_7429_2477_R->W 0.000798722 187 chr12:40760847:G:A 7584_7430_2477_R->Q 0.000199681 187 chr12:40761466:G:A 7584_7483_2495_V->I 0.000798722 187 chr12:40761479:A:G 7584_7496_2499_N->S 0.000199681 187 na12878 Variants: 187 chr12:40657700:C:G 7584_1653_551_N->K 187 chr12:40702911:G:A 7584_4193_1398_R->H 187 chr12:40758652:T:C 7584_7190_2397_M->T 187 chr12:40619082:G:A 7584_149_50_R->H 187 snyder Variants: 187 chr12:40619082:G:A 7584_149_50_R->H 187 chr12:40671989:A:G 7584_2167_723_I->V 188 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111087_ENST00000228682 gene_Name: GLI1_HUMAN 188 list of pdbs: 188 2GLI pdb_description: 09-Nov-93 X-ray 2.600 Five-finger gli/DNA complex 188 Zimmer Variants: 188 chr12:57865821:G:C 3321_3298_1100_E->Q 188 HGMD Variants: 188 chr12:57865665:G:A 3321_3142_1048_D->N 188 chr12:57865821:G:C 3321_3298_1100_E->Q 188 oneKG Variants: 188 chr12:57860076:G:A 3321_816_272_W->* 0.000199681 188 chr12:57857504:C:G 3321_30_10_I->M 0.000199681 188 chr12:57857521:C:A 3321_47_16_P->H 0.000199681 188 chr12:57857826:G:A 3321_145_49_G->S 0.000399361 188 chr12:57858476:C:T 3321_214_72_R->W 0.000199681 188 chr12:57858513:C:T 3321_251_84_S->F 0.000199681 188 chr12:57858576:C:A 3321_314_105_S->Y 0.00139776 188 chr12:57858626:G:C 3321_364_122_G->R 0.000199681 188 chr12:57858919:A:G 3321_415_139_M->V 0.000199681 188 chr12:57858952:G:A 3321_448_150_G->R 0.000199681 188 chr12:57858964:T:C 3321_460_154_C->R 0.000199681 188 chr12:57858985:C:T 3321_481_161_R->W 0.000199681 188 chr12:57859007:C:G 3321_503_168_P->R 0.00319489 188 chr12:57859427:G:A 3321_572_191_R->Q 0.000399361 188 chr12:57859587:T:C 3321_641_214_M->T 0.000399361 188 chr12:57859626:G:T 3321_680_227_R->L 0.000199681 188 chr12:57859659:G:A 3321_713_238_R->H 0.000199681 188 chr12:57860053:C:T 3321_793_265_R->W 0.000199681 188 chr12:57860054:G:A 3321_794_265_R->Q 0.000199681 188 chr12:57860080:G:C 3321_820_274_G->R 0.000199681 188 chr12:57861162:C:T 3321_959_320_T->M 0.000199681 188 chr12:57861231:G:T 3321_1028_343_S->I 0.000199681 188 chr12:57861236:G:T 3321_1033_345_A->S 0.000199681 188 chr12:57861789:T:C 3321_1090_364_C->R 0.000199681 188 chr12:57861913:G:A 3321_1214_405_R->Q 0.0103834 188 chr12:57861951:C:T 3321_1252_418_R->W 0.000199681 188 chr12:57863293:G:A 3321_1388_463_S->N 0.000199681 188 chr12:57863376:G:T 3321_1471_491_G->C 0.000199681 188 chr12:57863391:C:T 3321_1486_496_R->C 0.000199681 188 chr12:57863433:C:T 3321_1528_510_R->W 0.00159744 188 chr12:57863439:A:G 3321_1534_512_I->V 0.000199681 188 chr12:57864118:G:A 3321_1595_532_R->H 0.000599042 188 chr12:57864126:C:T 3321_1603_535_P->S 0.000998403 188 chr12:57864133:T:C 3321_1610_537_V->A 0.000199681 188 chr12:57864144:C:T 3321_1621_541_R->C 0.000199681 188 chr12:57864192:C:T 3321_1669_557_R->C 0.000599042 188 chr12:57864220:C:G 3321_1697_566_P->R 0.000599042 188 chr12:57864222:C:T 3321_1699_567_P->S 0.000199681 188 chr12:57864244:G:T 3321_1721_574_G->V 0.000199681 188 chr12:57864269:G:A 3321_1746_582_M->I 0.000199681 188 chr12:57864292:G:A 3321_1769_590_R->Q 0.000199681 188 chr12:57864328:C:T 3321_1805_602_S->L 0.000199681 188 chr12:57864421:C:T 3321_1898_633_A->V 0.000199681 188 chr12:57864433:G:A 3321_1910_637_R->Q 0.000199681 188 chr12:57864519:C:T 3321_1996_666_P->S 0.000399361 188 chr12:57864531:G:T 3321_2008_670_A->S 0.000599042 188 chr12:57864582:C:T 3321_2059_687_P->S 0.000199681 188 chr12:57864757:C:T 3321_2234_745_A->V 0.000199681 188 chr12:57864819:T:C 3321_2296_766_C->R 0.000199681 188 chr12:57864846:C:G 3321_2323_775_P->A 0.000199681 188 chr12:57865047:C:T 3321_2524_842_P->S 0.000199681 188 chr12:57865276:C:T 3321_2753_918_A->V 0.000199681 188 chr12:57865321:G:A 3321_2798_933_G->D 0.364018 188 chr12:57865341:C:T 3321_2818_940_R->C 0.000199681 188 chr12:57865365:T:G 3321_2842_948_Y->D 0.000199681 188 chr12:57865558:G:T 3321_3035_1012_G->V 0.019369 188 chr12:57865693:A:G 3321_3170_1057_Q->R 0.000199681 188 chr12:57865725:C:T 3321_3202_1068_R->W 0.000399361 188 chr12:57865726:G:T 3321_3203_1068_R->L 0.000199681 188 chr12:57865744:C:A 3321_3221_1074_T->N 0.000199681 188 chr12:57865810:C:T 3321_3287_1096_P->L 0.000199681 188 chr12:57865821:G:C 3321_3298_1100_E->Q 0.413738 188 na12878 Variants: 188 chr12:57865821:G:C 3321_3298_1100_E->Q 188 snyder Variants: 188 chr12:57865821:G:C 3321_3298_1100_E->Q 189 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111087_ENST00000546141 gene_Name: GLI1_HUMAN 189 list of pdbs: 189 2GLI pdb_description: 09-Nov-93 X-ray 2.600 Five-finger gli/DNA complex 189 Zimmer Variants: 189 chr12:57865821:G:C 3198_3175_1059_E->Q 189 HGMD Variants: 189 chr12:57865665:G:A 3198_3019_1007_D->N 189 chr12:57865821:G:C 3198_3175_1059_E->Q 189 oneKG Variants: 189 chr12:57860076:G:A 3198_693_231_W->* 0.000199681 189 chr12:57857504:C:G 3198_30_10_I->M 0.000199681 189 chr12:57857521:C:A 3198_47_16_P->H 0.000199681 189 chr12:57858513:C:T 3198_128_43_S->F 0.000199681 189 chr12:57858576:C:A 3198_191_64_S->Y 0.00139776 189 chr12:57858626:G:C 3198_241_81_G->R 0.000199681 189 chr12:57858919:A:G 3198_292_98_M->V 0.000199681 189 chr12:57858952:G:A 3198_325_109_G->R 0.000199681 189 chr12:57858964:T:C 3198_337_113_C->R 0.000199681 189 chr12:57858985:C:T 3198_358_120_R->W 0.000199681 189 chr12:57859007:C:G 3198_380_127_P->R 0.00319489 189 chr12:57859427:G:A 3198_449_150_R->Q 0.000399361 189 chr12:57859587:T:C 3198_518_173_M->T 0.000399361 189 chr12:57859626:G:T 3198_557_186_R->L 0.000199681 189 chr12:57859659:G:A 3198_590_197_R->H 0.000199681 189 chr12:57860053:C:T 3198_670_224_R->W 0.000199681 189 chr12:57860054:G:A 3198_671_224_R->Q 0.000199681 189 chr12:57860080:G:C 3198_697_233_G->R 0.000199681 189 chr12:57861162:C:T 3198_836_279_T->M 0.000199681 189 chr12:57861231:G:T 3198_905_302_S->I 0.000199681 189 chr12:57861236:G:T 3198_910_304_A->S 0.000199681 189 chr12:57861789:T:C 3198_967_323_C->R 0.000199681 189 chr12:57861913:G:A 3198_1091_364_R->Q 0.0103834 189 chr12:57861951:C:T 3198_1129_377_R->W 0.000199681 189 chr12:57863293:G:A 3198_1265_422_S->N 0.000199681 189 chr12:57863376:G:T 3198_1348_450_G->C 0.000199681 189 chr12:57863391:C:T 3198_1363_455_R->C 0.000199681 189 chr12:57863433:C:T 3198_1405_469_R->W 0.00159744 189 chr12:57863439:A:G 3198_1411_471_I->V 0.000199681 189 chr12:57864118:G:A 3198_1472_491_R->H 0.000599042 189 chr12:57864126:C:T 3198_1480_494_P->S 0.000998403 189 chr12:57864133:T:C 3198_1487_496_V->A 0.000199681 189 chr12:57864144:C:T 3198_1498_500_R->C 0.000199681 189 chr12:57864192:C:T 3198_1546_516_R->C 0.000599042 189 chr12:57864220:C:G 3198_1574_525_P->R 0.000599042 189 chr12:57864222:C:T 3198_1576_526_P->S 0.000199681 189 chr12:57864244:G:T 3198_1598_533_G->V 0.000199681 189 chr12:57864269:G:A 3198_1623_541_M->I 0.000199681 189 chr12:57864292:G:A 3198_1646_549_R->Q 0.000199681 189 chr12:57864328:C:T 3198_1682_561_S->L 0.000199681 189 chr12:57864421:C:T 3198_1775_592_A->V 0.000199681 189 chr12:57864433:G:A 3198_1787_596_R->Q 0.000199681 189 chr12:57864519:C:T 3198_1873_625_P->S 0.000399361 189 chr12:57864531:G:T 3198_1885_629_A->S 0.000599042 189 chr12:57864582:C:T 3198_1936_646_P->S 0.000199681 189 chr12:57864757:C:T 3198_2111_704_A->V 0.000199681 189 chr12:57864819:T:C 3198_2173_725_C->R 0.000199681 189 chr12:57864846:C:G 3198_2200_734_P->A 0.000199681 189 chr12:57865047:C:T 3198_2401_801_P->S 0.000199681 189 chr12:57865276:C:T 3198_2630_877_A->V 0.000199681 189 chr12:57865321:G:A 3198_2675_892_G->D 0.364018 189 chr12:57865341:C:T 3198_2695_899_R->C 0.000199681 189 chr12:57865365:T:G 3198_2719_907_Y->D 0.000199681 189 chr12:57865558:G:T 3198_2912_971_G->V 0.019369 189 chr12:57865693:A:G 3198_3047_1016_Q->R 0.000199681 189 chr12:57865725:C:T 3198_3079_1027_R->W 0.000399361 189 chr12:57865726:G:T 3198_3080_1027_R->L 0.000199681 189 chr12:57865744:C:A 3198_3098_1033_T->N 0.000199681 189 chr12:57865810:C:T 3198_3164_1055_P->L 0.000199681 189 chr12:57865821:G:C 3198_3175_1059_E->Q 0.413738 189 na12878 Variants: 189 chr12:57865821:G:C 3198_3175_1059_E->Q 189 snyder Variants: 189 chr12:57865821:G:C 3198_3175_1059_E->Q 190 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111319_ENST00000360168 gene_Name: SCNNA_HUMAN 190 list of pdbs: 190 2M3O pdb_description: 28-Aug-13 NMR 15 Structure and dynamics of a human nedd4 ww domain-enac compl 190 Zimmer Variants: 190 chr12:6464581:C:T 2187_1177_393_A->T 190 chr12:6457062:T:C 2187_2164_722_T->A 190 HGMD Variants: 190 chr12:6457260:G:A 2187_1966_656_R->* 190 chr12:6458147:G:A 2187_1699_567_R->* 190 chr12:6458353:G:A 2187_1651_551_R->* 190 chr12:6483761:G:T 2187_366_122_C->* 190 chr12:6483784:G:A 2187_343_115_R->* 190 chr12:6457062:T:C 2187_2164_722_T->A 190 chr12:6457196:C:A 2187_2030_677_C->F 190 chr12:6457364:G:A 2187_1862_621_S->L 190 chr12:6457371:C:T 2187_1855_619_G->S 190 chr12:6458350:A:G 2187_1654_552_W->R 190 chr12:6458548:C:T 2187_1561_521_V->I 190 chr12:6464532:C:T 2187_1226_409_R->Q 190 chr12:6464943:C:A 2187_1156_386_G->C 190 chr12:6471365:A:G 2187_904_302_S->P 190 chr12:6472752:G:A 2187_718_240_R->W 190 chr12:6483534:C:T 2187_593_198_R->K 190 chr12:6483552:C:T 2187_575_192_C->Y 190 chr12:6483610:C:T 2187_517_173_V->I 190 chr12:6483649:G:T 2187_478_160_Q->K 190 chr12:6483767:G:T 2187_360_120_F->L 190 oneKG Variants: 190 chr12:6458147:G:A 2187_1699_567_R->* 0.000199681 190 chr12:6457044:G:C 2187_2182_728_P->A 0.000199681 190 chr12:6457062:T:C 2187_2164_722_T->A 0.259385 190 chr12:6457196:C:A 2187_2030_677_C->F 0.0345447 190 chr12:6457259:C:T 2187_1967_656_R->Q 0.000199681 190 chr12:6457277:C:T 2187_1949_650_R->Q 0.000199681 190 chr12:6457288:C:A 2187_1938_646_R->S 0.000199681 190 chr12:6457332:C:T 2187_1894_632_V->I 0.00439297 190 chr12:6457356:A:T 2187_1870_624_S->T 0.000399361 190 chr12:6457963:C:G 2187_1736_579_G->A 0.000199681 190 chr12:6458343:G:A 2187_1661_554_S->L 0.00139776 190 chr12:6458350:A:G 2187_1654_552_W->R 0.0133786 190 chr12:6458386:C:T 2187_1618_540_V->M 0.000199681 190 chr12:6458505:C:T 2187_1604_535_R->Q 0.00239617 190 chr12:6458571:C:A 2187_1538_513_G->V 0.000199681 190 chr12:6463651:C:T 2187_1490_497_R->Q 0.000199681 190 chr12:6463654:G:A 2187_1487_496_P->L 0.000199681 190 chr12:6463675:C:T 2187_1466_489_G->D 0.000199681 190 chr12:6463953:G:T 2187_1382_461_P->H 0.000199681 190 chr12:6464452:T:C 2187_1306_436_I->V 0.000199681 190 chr12:6464464:C:T 2187_1294_432_V->M 0.000199681 190 chr12:6464473:G:A 2187_1285_429_R->W 0.000199681 190 chr12:6464508:T:C 2187_1250_417_E->G 0.000399361 190 chr12:6464518:C:T 2187_1240_414_G->R 0.000199681 190 chr12:6464532:C:T 2187_1226_409_R->Q 0.000199681 190 chr12:6464533:G:A 2187_1225_409_R->W 0.000399361 190 chr12:6464581:C:T 2187_1177_393_A->T 0.192292 190 chr12:6464584:G:A 2187_1174_392_R->C 0.000798722 190 chr12:6471287:A:G 2187_982_328_S->P 0.000798722 190 chr12:6471328:T:C 2187_941_314_H->R 0.000199681 190 chr12:6471334:C:T 2187_935_312_R->H 0.000199681 190 chr12:6471337:T:C 2187_932_311_Y->C 0.000199681 190 chr12:6472679:C:T 2187_791_264_S->N 0.00219649 190 chr12:6472717:C:G 2187_753_251_R->S 0.000199681 190 chr12:6472752:G:A 2187_718_240_R->W 0.0071885 190 chr12:6472809:A:G 2187_661_221_Y->H 0.000199681 190 chr12:6472875:A:C 2187_595_199_Y->D 0.000199681 190 chr12:6483591:A:T 2187_536_179_L->H 0.000199681 190 chr12:6483610:C:T 2187_517_173_V->I 0.000199681 190 chr12:6483631:C:T 2187_496_166_G->R 0.000199681 190 chr12:6483739:C:T 2187_388_130_A->T 0.000199681 190 chr12:6483807:A:C 2187_320_107_L->R 0.000199681 190 chr12:6483817:C:G 2187_310_104_E->Q 0.000199681 190 chr12:6483826:T:C 2187_301_101_T->A 0.000199681 190 chr12:6483850:C:T 2187_277_93_E->K 0.000199681 190 chr12:6483873:C:G 2187_254_85_R->P 0.000399361 190 chr12:6483972:G:C 2187_155_52_P->R 0.000199681 190 chr12:6483997:T:C 2187_130_44_K->E 0.00878594 190 chr12:6484006:T:C 2187_121_41_K->E 0.000199681 190 chr12:6484017:G:A 2187_110_37_P->L 0.000199681 190 chr12:6484029:G:A 2187_98_33_P->L 0.000199681 190 chr12:6484089:C:T 2187_38_13_G->E 0.000199681 190 chr12:6484098:C:T 2187_29_10_R->Q 0.000199681 190 chr12:6484099:G:A 2187_28_10_R->W 0.000399361 190 na12878 Variants: 190 chr12:6457062:T:C 2187_2164_722_T->A 190 snyder Variants: 190 chr12:6457062:T:C 2187_2164_722_T->A 191 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111319_ENST00000228916 gene_Name: SCNNA_HUMAN 191 list of pdbs: 191 2M3O pdb_description: 28-Aug-13 NMR 15 Structure and dynamics of a human nedd4 ww domain-enac compl 191 Zimmer Variants: 191 chr12:6464581:C:T 2010_1000_334_A->T 191 chr12:6457062:T:C 2010_1987_663_T->A 191 HGMD Variants: 191 chr12:6457260:G:A 2010_1789_597_R->* 191 chr12:6458147:G:A 2010_1522_508_R->* 191 chr12:6458353:G:A 2010_1474_492_R->* 191 chr12:6483761:G:T 2010_189_63_C->* 191 chr12:6483784:G:A 2010_166_56_R->* 191 chr12:6457062:T:C 2010_1987_663_T->A 191 chr12:6457196:C:A 2010_1853_618_C->F 191 chr12:6457364:G:A 2010_1685_562_S->L 191 chr12:6457371:C:T 2010_1678_560_G->S 191 chr12:6458350:A:G 2010_1477_493_W->R 191 chr12:6458548:C:T 2010_1384_462_V->I 191 chr12:6464532:C:T 2010_1049_350_R->Q 191 chr12:6464943:C:A 2010_979_327_G->C 191 chr12:6471365:A:G 2010_727_243_S->P 191 chr12:6472752:G:A 2010_541_181_R->W 191 chr12:6483534:C:T 2010_416_139_R->K 191 chr12:6483552:C:T 2010_398_133_C->Y 191 chr12:6483610:C:T 2010_340_114_V->I 191 chr12:6483649:G:T 2010_301_101_Q->K 191 chr12:6483767:G:T 2010_183_61_F->L 191 oneKG Variants: 191 chr12:6458147:G:A 2010_1522_508_R->* 0.000199681 191 chr12:6457044:G:C 2010_2005_669_P->A 0.000199681 191 chr12:6457062:T:C 2010_1987_663_T->A 0.259385 191 chr12:6457196:C:A 2010_1853_618_C->F 0.0345447 191 chr12:6457259:C:T 2010_1790_597_R->Q 0.000199681 191 chr12:6457277:C:T 2010_1772_591_R->Q 0.000199681 191 chr12:6457288:C:A 2010_1761_587_R->S 0.000199681 191 chr12:6457332:C:T 2010_1717_573_V->I 0.00439297 191 chr12:6457356:A:T 2010_1693_565_S->T 0.000399361 191 chr12:6457963:C:G 2010_1559_520_G->A 0.000199681 191 chr12:6458343:G:A 2010_1484_495_S->L 0.00139776 191 chr12:6458350:A:G 2010_1477_493_W->R 0.0133786 191 chr12:6458386:C:T 2010_1441_481_V->M 0.000199681 191 chr12:6458505:C:T 2010_1427_476_R->Q 0.00239617 191 chr12:6458571:C:A 2010_1361_454_G->V 0.000199681 191 chr12:6463651:C:T 2010_1313_438_R->Q 0.000199681 191 chr12:6463654:G:A 2010_1310_437_P->L 0.000199681 191 chr12:6463675:C:T 2010_1289_430_G->D 0.000199681 191 chr12:6463953:G:T 2010_1205_402_P->H 0.000199681 191 chr12:6464452:T:C 2010_1129_377_I->V 0.000199681 191 chr12:6464464:C:T 2010_1117_373_V->M 0.000199681 191 chr12:6464473:G:A 2010_1108_370_R->W 0.000199681 191 chr12:6464508:T:C 2010_1073_358_E->G 0.000399361 191 chr12:6464518:C:T 2010_1063_355_G->R 0.000199681 191 chr12:6464532:C:T 2010_1049_350_R->Q 0.000199681 191 chr12:6464533:G:A 2010_1048_350_R->W 0.000399361 191 chr12:6464581:C:T 2010_1000_334_A->T 0.192292 191 chr12:6464584:G:A 2010_997_333_R->C 0.000798722 191 chr12:6471287:A:G 2010_805_269_S->P 0.000798722 191 chr12:6471328:T:C 2010_764_255_H->R 0.000199681 191 chr12:6471334:C:T 2010_758_253_R->H 0.000199681 191 chr12:6471337:T:C 2010_755_252_Y->C 0.000199681 191 chr12:6472679:C:T 2010_614_205_S->N 0.00219649 191 chr12:6472717:C:G 2010_576_192_R->S 0.000199681 191 chr12:6472752:G:A 2010_541_181_R->W 0.0071885 191 chr12:6472809:A:G 2010_484_162_Y->H 0.000199681 191 chr12:6472875:A:C 2010_418_140_Y->D 0.000199681 191 chr12:6483591:A:T 2010_359_120_L->H 0.000199681 191 chr12:6483610:C:T 2010_340_114_V->I 0.000199681 191 chr12:6483631:C:T 2010_319_107_G->R 0.000199681 191 chr12:6483739:C:T 2010_211_71_A->T 0.000199681 191 chr12:6483807:A:C 2010_143_48_L->R 0.000199681 191 chr12:6483817:C:G 2010_133_45_E->Q 0.000199681 191 chr12:6483826:T:C 2010_124_42_T->A 0.000199681 191 chr12:6483850:C:T 2010_100_34_E->K 0.000199681 191 chr12:6483873:C:G 2010_77_26_R->P 0.000399361 191 na12878 Variants: 191 chr12:6457062:T:C 2010_1987_663_T->A 191 snyder Variants: 191 chr12:6457062:T:C 2010_1987_663_T->A 192 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111319_ENST00000543768 gene_Name: SCNNA_HUMAN 192 list of pdbs: 192 2M3O pdb_description: 28-Aug-13 NMR 15 Structure and dynamics of a human nedd4 ww domain-enac compl 192 Zimmer Variants: 192 chr12:6464581:C:T 2079_1069_357_A->T 192 chr12:6457062:T:C 2079_2056_686_T->A 192 HGMD Variants: 192 chr12:6457260:G:A 2079_1858_620_R->* 192 chr12:6458147:G:A 2079_1591_531_R->* 192 chr12:6458353:G:A 2079_1543_515_R->* 192 chr12:6483761:G:T 2079_258_86_C->* 192 chr12:6483784:G:A 2079_235_79_R->* 192 chr12:6457062:T:C 2079_2056_686_T->A 192 chr12:6457196:C:A 2079_1922_641_C->F 192 chr12:6457364:G:A 2079_1754_585_S->L 192 chr12:6457371:C:T 2079_1747_583_G->S 192 chr12:6458350:A:G 2079_1546_516_W->R 192 chr12:6458548:C:T 2079_1453_485_V->I 192 chr12:6464532:C:T 2079_1118_373_R->Q 192 chr12:6464943:C:A 2079_1048_350_G->C 192 chr12:6471365:A:G 2079_796_266_S->P 192 chr12:6472752:G:A 2079_610_204_R->W 192 chr12:6483534:C:T 2079_485_162_R->K 192 chr12:6483552:C:T 2079_467_156_C->Y 192 chr12:6483610:C:T 2079_409_137_V->I 192 chr12:6483649:G:T 2079_370_124_Q->K 192 chr12:6483767:G:T 2079_252_84_F->L 192 oneKG Variants: 192 chr12:6458147:G:A 2079_1591_531_R->* 0.000199681 192 chr12:6457044:G:C 2079_2074_692_P->A 0.000199681 192 chr12:6457062:T:C 2079_2056_686_T->A 0.259385 192 chr12:6457196:C:A 2079_1922_641_C->F 0.0345447 192 chr12:6457259:C:T 2079_1859_620_R->Q 0.000199681 192 chr12:6457277:C:T 2079_1841_614_R->Q 0.000199681 192 chr12:6457288:C:A 2079_1830_610_R->S 0.000199681 192 chr12:6457332:C:T 2079_1786_596_V->I 0.00439297 192 chr12:6457356:A:T 2079_1762_588_S->T 0.000399361 192 chr12:6457963:C:G 2079_1628_543_G->A 0.000199681 192 chr12:6458343:G:A 2079_1553_518_S->L 0.00139776 192 chr12:6458350:A:G 2079_1546_516_W->R 0.0133786 192 chr12:6458386:C:T 2079_1510_504_V->M 0.000199681 192 chr12:6458505:C:T 2079_1496_499_R->Q 0.00239617 192 chr12:6458571:C:A 2079_1430_477_G->V 0.000199681 192 chr12:6463651:C:T 2079_1382_461_R->Q 0.000199681 192 chr12:6463654:G:A 2079_1379_460_P->L 0.000199681 192 chr12:6463675:C:T 2079_1358_453_G->D 0.000199681 192 chr12:6463953:G:T 2079_1274_425_P->H 0.000199681 192 chr12:6464452:T:C 2079_1198_400_I->V 0.000199681 192 chr12:6464464:C:T 2079_1186_396_V->M 0.000199681 192 chr12:6464473:G:A 2079_1177_393_R->W 0.000199681 192 chr12:6464508:T:C 2079_1142_381_E->G 0.000399361 192 chr12:6464518:C:T 2079_1132_378_G->R 0.000199681 192 chr12:6464532:C:T 2079_1118_373_R->Q 0.000199681 192 chr12:6464533:G:A 2079_1117_373_R->W 0.000399361 192 chr12:6464581:C:T 2079_1069_357_A->T 0.192292 192 chr12:6464584:G:A 2079_1066_356_R->C 0.000798722 192 chr12:6471287:A:G 2079_874_292_S->P 0.000798722 192 chr12:6471328:T:C 2079_833_278_H->R 0.000199681 192 chr12:6471334:C:T 2079_827_276_R->H 0.000199681 192 chr12:6471337:T:C 2079_824_275_Y->C 0.000199681 192 chr12:6472679:C:T 2079_683_228_S->N 0.00219649 192 chr12:6472717:C:G 2079_645_215_R->S 0.000199681 192 chr12:6472752:G:A 2079_610_204_R->W 0.0071885 192 chr12:6472809:A:G 2079_553_185_Y->H 0.000199681 192 chr12:6472875:A:C 2079_487_163_Y->D 0.000199681 192 chr12:6483591:A:T 2079_428_143_L->H 0.000199681 192 chr12:6483610:C:T 2079_409_137_V->I 0.000199681 192 chr12:6483631:C:T 2079_388_130_G->R 0.000199681 192 chr12:6483739:C:T 2079_280_94_A->T 0.000199681 192 chr12:6483807:A:C 2079_212_71_L->R 0.000199681 192 chr12:6483817:C:G 2079_202_68_E->Q 0.000199681 192 chr12:6483826:T:C 2079_193_65_T->A 0.000199681 192 chr12:6483850:C:T 2079_169_57_E->K 0.000199681 192 chr12:6483873:C:G 2079_146_49_R->P 0.000399361 192 chr12:6483972:G:C 2079_47_16_P->R 0.000199681 192 chr12:6483997:T:C 2079_22_8_K->E 0.00878594 192 na12878 Variants: 192 chr12:6457062:T:C 2079_2056_686_T->A 192 snyder Variants: 192 chr12:6457062:T:C 2079_2056_686_T->A 193 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155974_ENST00000398016 gene_Name: GRIP1_HUMAN 193 list of pdbs: 193 2JIL pdb_description: 10-Jul-07 X-ray 1.500 Crystal structure of 2nd pdz domain of glutamate receptor interacting protein-1 (grip1) 193 Zimmer Variants: 193 chr12:66786091:G:C 3231_2305_769_Q->E;HUB=PPI;GENE=GRIP1;CDSS=3 193 HGMD Variants: 193 chr12:66786276:G:T 3231_2120_707_S->* 193 chr12:66788101:G:T 3231_1860_620_Y->* 193 chr12:66786171:A:C 3231_2225_742_M->R 193 chr12:66800174:C:T 3231_1717_573_A->T 193 chr12:66826340:T:G 3231_1600_534_I->L 193 chr12:66838402:G:A 3231_1493_498_T->M 193 chr12:66838406:T:C 3231_1489_497_I->V 193 chr12:66935707:C:T 3231_160_54_V->I 193 oneKG Variants: 193 chr12:67072642:G:A 3231_43_15_R->* 0.000199681 193 chr12:66742817:T:A 3231_3213_1071_E->D 0.000798722 193 chr12:66742882:A:T 3231_3148_1050_W->R 0.000199681 193 chr12:66742891:G:A 3231_3139_1047_P->S 0.000199681 193 chr12:66742908:A:G 3231_3122_1041_I->T 0.000399361 193 chr12:66742963:C:T 3231_3067_1023_G->R 0.000199681 193 chr12:66742987:C:G 3231_3043_1015_V->L 0.000399361 193 chr12:66765533:T:C 3231_2797_933_R->G 0.000199681 193 chr12:66765604:C:T 3231_2726_909_R->Q 0.000199681 193 chr12:66765694:G:A 3231_2636_879_S->L 0.000798722 193 chr12:66773061:C:T 3231_2464_822_G->S 0.000199681 193 chr12:66773063:C:G 3231_2462_821_S->T 0.000199681 193 chr12:66773075:C:T 3231_2450_817_R->Q 0.00299521 193 chr12:66773108:G:C 3231_2417_806_P->R 0.000798722 193 chr12:66786091:G:C 3231_2305_769_Q->E 0.15635 193 chr12:66786159:G:A 3231_2237_746_T->M 0.000199681 193 chr12:66786171:A:C 3231_2225_742_M->R 0.00139776 193 chr12:66786225:C:T 3231_2171_724_G->E 0.0 193 chr12:66800104:T:C 3231_1787_596_D->G 0.000199681 193 chr12:66800174:C:T 3231_1717_573_A->T 0.000199681 193 chr12:66814530:G:A 3231_1652_551_S->L 0.000199681 193 chr12:66814537:C:T 3231_1645_549_V->I 0.000199681 193 chr12:66814546:C:T 3231_1636_546_D->N 0.000199681 193 chr12:66814551:G:C 3231_1631_544_P->R 0.00139776 193 chr12:66826330:C:T 3231_1610_537_S->N 0.000199681 193 chr12:66826340:T:G 3231_1600_534_I->L 0.00159744 193 chr12:66826354:T:C 3231_1586_529_N->S 0.000399361 193 chr12:66838395:C:G 3231_1500_500_K->N 0.000199681 193 chr12:66838406:T:C 3231_1489_497_I->V 0.000199681 193 chr12:66838472:T:C 3231_1423_475_I->V 0.000199681 193 chr12:66839226:C:T 3231_1261_421_V->I 0.000399361 193 chr12:66839261:A:C 3231_1226_409_L->W 0.000199681 193 chr12:66839273:C:A 3231_1214_405_S->I 0.000199681 193 chr12:66849248:G:A 3231_1139_380_T->I 0.000399361 193 chr12:66849288:A:T 3231_1099_367_S->T 0.000199681 193 chr12:66856782:C:T 3231_964_322_A->T 0.0159744 193 chr12:66856821:T:C 3231_925_309_M->V 0.000199681 193 chr12:66856859:T:C 3231_887_296_H->R 0.000199681 193 chr12:66859154:G:A 3231_773_258_T->I 0.000599042 193 chr12:66909431:G:A 3231_692_231_A->V 0.00299521 193 chr12:66909479:G:C 3231_644_215_T->R 0.000199681 193 chr12:66909480:T:C 3231_643_215_T->A 0.000399361 193 chr12:66911726:C:T 3231_533_178_R->H 0.000199681 193 chr12:66923667:C:T 3231_446_149_R->Q 0.000199681 193 chr12:66923692:C:T 3231_421_141_V->M 0.000199681 193 chr12:66932863:G:A 3231_413_138_P->L 0.000199681 193 chr12:66932873:C:T 3231_403_135_E->K 0.000199681 193 chr12:66932890:A:G 3231_386_129_V->A 0.000199681 193 chr12:66935707:C:T 3231_160_54_V->I 0.000399361 193 chr12:67072657:A:G 3231_28_10_C->R 0.000199681 193 na12878 Variants: 193 chr12:66786091:G:C 3231_2305_769_Q->E 193 snyder Variants: 193 chr12:66786091:G:C 3231_2305_769_Q->E 194 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155974_ENST00000359742 gene_Name: GRIP1_HUMAN 194 list of pdbs: 194 2JIL pdb_description: 10-Jul-07 X-ray 1.500 Crystal structure of 2nd pdz domain of glutamate receptor interacting protein-1 (grip1) 194 Zimmer Variants: 194 chr12:66786091:G:C 3387_2461_821_Q->E 194 HGMD Variants: 194 chr12:66786276:G:T 3387_2276_759_S->* 194 chr12:66788101:G:T 3387_2016_672_Y->* 194 chr12:66786171:A:C 3387_2381_794_M->R 194 chr12:66800174:C:T 3387_1873_625_A->T 194 chr12:66826340:T:G 3387_1756_586_I->L 194 chr12:66838402:G:A 3387_1649_550_T->M 194 chr12:66838406:T:C 3387_1645_549_I->V 194 chr12:66935707:C:T 3387_160_54_V->I 194 oneKG Variants: 194 chr12:67072642:G:A 3387_43_15_R->* 0.000199681 194 chr12:66742817:T:A 3387_3369_1123_E->D 0.000798722 194 chr12:66742882:A:T 3387_3304_1102_W->R 0.000199681 194 chr12:66742891:G:A 3387_3295_1099_P->S 0.000199681 194 chr12:66742908:A:G 3387_3278_1093_I->T 0.000399361 194 chr12:66742963:C:T 3387_3223_1075_G->R 0.000199681 194 chr12:66742987:C:G 3387_3199_1067_V->L 0.000399361 194 chr12:66765533:T:C 3387_2953_985_R->G 0.000199681 194 chr12:66765604:C:T 3387_2882_961_R->Q 0.000199681 194 chr12:66765694:G:A 3387_2792_931_S->L 0.000798722 194 chr12:66773061:C:T 3387_2620_874_G->S 0.000199681 194 chr12:66773063:C:G 3387_2618_873_S->T 0.000199681 194 chr12:66773075:C:T 3387_2606_869_R->Q 0.00299521 194 chr12:66773108:G:C 3387_2573_858_P->R 0.000798722 194 chr12:66786091:G:C 3387_2461_821_Q->E 0.15635 194 chr12:66786159:G:A 3387_2393_798_T->M 0.000199681 194 chr12:66786171:A:C 3387_2381_794_M->R 0.00139776 194 chr12:66786225:C:T 3387_2327_776_G->E 0.0 194 chr12:66800104:T:C 3387_1943_648_D->G 0.000199681 194 chr12:66800174:C:T 3387_1873_625_A->T 0.000199681 194 chr12:66814530:G:A 3387_1808_603_S->L 0.000199681 194 chr12:66814537:C:T 3387_1801_601_V->I 0.000199681 194 chr12:66814546:C:T 3387_1792_598_D->N 0.000199681 194 chr12:66814551:G:C 3387_1787_596_P->R 0.00139776 194 chr12:66826330:C:T 3387_1766_589_S->N 0.000199681 194 chr12:66826340:T:G 3387_1756_586_I->L 0.00159744 194 chr12:66826354:T:C 3387_1742_581_N->S 0.000399361 194 chr12:66838395:C:G 3387_1656_552_K->N 0.000199681 194 chr12:66838406:T:C 3387_1645_549_I->V 0.000199681 194 chr12:66838472:T:C 3387_1579_527_I->V 0.000199681 194 chr12:66839226:C:T 3387_1417_473_V->I 0.000399361 194 chr12:66839261:A:C 3387_1382_461_L->W 0.000199681 194 chr12:66839273:C:A 3387_1370_457_S->I 0.000199681 194 chr12:66849248:G:A 3387_1295_432_T->I 0.000399361 194 chr12:66849288:A:T 3387_1255_419_S->T 0.000199681 194 chr12:66849967:G:A 3387_1198_400_P->S 0.000199681 194 chr12:66850020:T:C 3387_1145_382_H->R 0.000199681 194 chr12:66850041:T:C 3387_1124_375_Y->C 0.000199681 194 chr12:66856782:C:T 3387_964_322_A->T 0.0159744 194 chr12:66856821:T:C 3387_925_309_M->V 0.000199681 194 chr12:66856859:T:C 3387_887_296_H->R 0.000199681 194 chr12:66859154:G:A 3387_773_258_T->I 0.000599042 194 chr12:66909431:G:A 3387_692_231_A->V 0.00299521 194 chr12:66909479:G:C 3387_644_215_T->R 0.000199681 194 chr12:66909480:T:C 3387_643_215_T->A 0.000399361 194 chr12:66911726:C:T 3387_533_178_R->H 0.000199681 194 chr12:66923667:C:T 3387_446_149_R->Q 0.000199681 194 chr12:66923692:C:T 3387_421_141_V->M 0.000199681 194 chr12:66932863:G:A 3387_413_138_P->L 0.000199681 194 chr12:66932873:C:T 3387_403_135_E->K 0.000199681 194 chr12:66932890:A:G 3387_386_129_V->A 0.000199681 194 chr12:66935707:C:T 3387_160_54_V->I 0.000399361 194 chr12:67072657:A:G 3387_28_10_C->R 0.000199681 194 na12878 Variants: 194 chr12:66786091:G:C 3387_2461_821_Q->E 194 snyder Variants: 194 chr12:66786091:G:C 3387_2461_821_Q->E 195 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155974_ENST00000286445 gene_Name: GRIP1_HUMAN 195 list of pdbs: 195 2JIL pdb_description: 10-Jul-07 X-ray 1.500 Crystal structure of 2nd pdz domain of glutamate receptor interacting protein-1 (grip1) 195 Zimmer Variants: 195 chr12:66786091:G:C 3342_2461_821_Q->E 195 HGMD Variants: 195 chr12:66786276:G:T 3342_2276_759_S->* 195 chr12:66788101:G:T 3342_2016_672_Y->* 195 chr12:66786171:A:C 3342_2381_794_M->R 195 chr12:66800174:C:T 3342_1873_625_A->T 195 chr12:66826340:T:G 3342_1756_586_I->L 195 chr12:66838402:G:A 3342_1649_550_T->M 195 chr12:66838406:T:C 3342_1645_549_I->V 195 chr12:66935707:C:T 3342_160_54_V->I 195 oneKG Variants: 195 chr12:67072642:G:A 3342_43_15_R->* 0.000199681 195 chr12:66742817:T:A 3342_3324_1108_E->D 0.000798722 195 chr12:66742882:A:T 3342_3259_1087_W->R 0.000199681 195 chr12:66742891:G:A 3342_3250_1084_P->S 0.000199681 195 chr12:66742908:A:G 3342_3233_1078_I->T 0.000399361 195 chr12:66742963:C:T 3342_3178_1060_G->R 0.000199681 195 chr12:66742987:C:G 3342_3154_1052_V->L 0.000399361 195 chr12:66765533:T:C 3342_2908_970_R->G 0.000199681 195 chr12:66765604:C:T 3342_2837_946_R->Q 0.000199681 195 chr12:66765694:G:A 3342_2747_916_S->L 0.000798722 195 chr12:66773061:C:T 3342_2620_874_G->S 0.000199681 195 chr12:66773063:C:G 3342_2618_873_S->T 0.000199681 195 chr12:66773075:C:T 3342_2606_869_R->Q 0.00299521 195 chr12:66773108:G:C 3342_2573_858_P->R 0.000798722 195 chr12:66786091:G:C 3342_2461_821_Q->E 0.15635 195 chr12:66786159:G:A 3342_2393_798_T->M 0.000199681 195 chr12:66786171:A:C 3342_2381_794_M->R 0.00139776 195 chr12:66786225:C:T 3342_2327_776_G->E 0.0 195 chr12:66800104:T:C 3342_1943_648_D->G 0.000199681 195 chr12:66800174:C:T 3342_1873_625_A->T 0.000199681 195 chr12:66814530:G:A 3342_1808_603_S->L 0.000199681 195 chr12:66814537:C:T 3342_1801_601_V->I 0.000199681 195 chr12:66814546:C:T 3342_1792_598_D->N 0.000199681 195 chr12:66814551:G:C 3342_1787_596_P->R 0.00139776 195 chr12:66826330:C:T 3342_1766_589_S->N 0.000199681 195 chr12:66826340:T:G 3342_1756_586_I->L 0.00159744 195 chr12:66826354:T:C 3342_1742_581_N->S 0.000399361 195 chr12:66838395:C:G 3342_1656_552_K->N 0.000199681 195 chr12:66838406:T:C 3342_1645_549_I->V 0.000199681 195 chr12:66838472:T:C 3342_1579_527_I->V 0.000199681 195 chr12:66839226:C:T 3342_1417_473_V->I 0.000399361 195 chr12:66839261:A:C 3342_1382_461_L->W 0.000199681 195 chr12:66839273:C:A 3342_1370_457_S->I 0.000199681 195 chr12:66849248:G:A 3342_1295_432_T->I 0.000399361 195 chr12:66849288:A:T 3342_1255_419_S->T 0.000199681 195 chr12:66849967:G:A 3342_1198_400_P->S 0.000199681 195 chr12:66850020:T:C 3342_1145_382_H->R 0.000199681 195 chr12:66850041:T:C 3342_1124_375_Y->C 0.000199681 195 chr12:66856782:C:T 3342_964_322_A->T 0.0159744 195 chr12:66856821:T:C 3342_925_309_M->V 0.000199681 195 chr12:66856859:T:C 3342_887_296_H->R 0.000199681 195 chr12:66859154:G:A 3342_773_258_T->I 0.000599042 195 chr12:66909431:G:A 3342_692_231_A->V 0.00299521 195 chr12:66909479:G:C 3342_644_215_T->R 0.000199681 195 chr12:66909480:T:C 3342_643_215_T->A 0.000399361 195 chr12:66911726:C:T 3342_533_178_R->H 0.000199681 195 chr12:66923667:C:T 3342_446_149_R->Q 0.000199681 195 chr12:66923692:C:T 3342_421_141_V->M 0.000199681 195 chr12:66932863:G:A 3342_413_138_P->L 0.000199681 195 chr12:66932873:C:T 3342_403_135_E->K 0.000199681 195 chr12:66932890:A:G 3342_386_129_V->A 0.000199681 195 chr12:66935707:C:T 3342_160_54_V->I 0.000399361 195 chr12:67072657:A:G 3342_28_10_C->R 0.000199681 195 na12878 Variants: 195 chr12:66786091:G:C 3342_2461_821_Q->E 195 snyder Variants: 195 chr12:66786091:G:C 3342_2461_821_Q->E 196 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000127329_ENST00000334414 gene_Name: PTPRB_HUMAN 196 list of pdbs: 196 2I5X pdb_description: 05-Sep-06 X-ray 1.700 Engineering the ptpbeta catalytic domain with improved cryst properties 196 2I4H pdb_description: 29-Aug-06 X-ray 2.150 Structural studies of protein tyrosine phosphatase beta cata domain co-crystallized with a sulfamic acid inhibitor 196 2I4G pdb_description: 29-Aug-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with a sulfamic acid (soaking experiment) 196 2I4E pdb_description: 29-Aug-06 X-ray 1.750 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 196 2I3U pdb_description: 29-Aug-06 X-ray 1.850 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 196 2I3R pdb_description: 29-Aug-06 X-ray 1.850 Engineered catalytic domain of protein tyrosine phosphatase 196 2HC2 pdb_description: 27-Jun-06 X-ray 1.400 Engineered protein tyrosine phosphatase beta catalytic domain 196 2HC1 pdb_description: 27-Jun-06 X-ray 1.300 Engineered catalytic domain of protein tyrosine phosphatase hptpbeta. 196 2H04 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta catalytic domain in complex with inhibitors 196 2H03 pdb_description: 13-Jun-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 196 2H02 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 196 2AHS pdb_description: 09-Aug-05 X-ray 2.100 Crystal structure of the catalytic domain of human tyrosine phosphatase beta 196 Zimmer Variants: 196 chr12:70990054:T:C 6648_1033_345_S->G 196 chr12:70983895:A:C 6648_1899_633_D->E 196 HGMD Variants: 196 chr12:70990054:T:C 6648_1033_345_S->G 196 oneKG Variants: 196 chr12:70964836:G:A 6648_3340_1114_Q->* 0.000199681 196 chr12:70970294:G:A 6648_2710_904_Q->* 0.000199681 196 chr12:70918297:G:T 6648_6579_2193_N->K 0.000199681 196 chr12:70918313:C:T 6648_6563_2188_R->Q 0.000199681 196 chr12:70918329:T:C 6648_6547_2183_R->G 0.000199681 196 chr12:70925864:C:G 6648_6455_2152_G->A 0.0221645 196 chr12:70928280:A:G 6648_6356_2119_V->A 0.000199681 196 chr12:70928382:A:G 6648_6254_2085_V->A 0.000199681 196 chr12:70928654:C:T 6648_6163_2055_V->I 0.00119808 196 chr12:70929841:G:T 6648_6045_2015_N->K 0.000199681 196 chr12:70929932:T:C 6648_5954_1985_N->S 0.000998403 196 chr12:70929938:C:A 6648_5948_1983_G->V 0.000199681 196 chr12:70932002:G:A 6648_5879_1960_T->M 0.000199681 196 chr12:70932745:G:A 6648_5828_1943_P->L 0.000998403 196 chr12:70933430:T:C 6648_5753_1918_N->S 0.000399361 196 chr12:70933619:C:T 6648_5684_1895_R->Q 0.000199681 196 chr12:70933620:G:A 6648_5683_1895_R->W 0.000199681 196 chr12:70933755:C:T 6648_5642_1881_R->Q 0.000199681 196 chr12:70933762:T:C 6648_5635_1879_R->G 0.000199681 196 chr12:70933776:C:T 6648_5621_1874_R->H 0.00259585 196 chr12:70946725:C:T 6648_5219_1740_R->Q 0.000199681 196 chr12:70946729:T:C 6648_5215_1739_I->V 0.000199681 196 chr12:70949014:G:A 6648_5069_1690_T->I 0.00299521 196 chr12:70949062:C:T 6648_5021_1674_R->H 0.000998403 196 chr12:70949706:T:C 6648_4937_1646_Q->R 0.000399361 196 chr12:70953189:C:T 6648_4648_1550_V->I 0.00219649 196 chr12:70953278:G:A 6648_4559_1520_A->V 0.000199681 196 chr12:70953285:T:C 6648_4552_1518_R->G 0.000199681 196 chr12:70953295:C:A 6648_4542_1514_Q->H 0.000199681 196 chr12:70953369:T:G 6648_4468_1490_I->L 0.00139776 196 chr12:70954547:G:A 6648_4336_1446_R->W 0.00858626 196 chr12:70954678:C:T 6648_4205_1402_R->Q 0.000399361 196 chr12:70954681:T:C 6648_4202_1401_N->S 0.000199681 196 chr12:70956666:T:C 6648_4126_1376_S->G 0.00179712 196 chr12:70956870:C:T 6648_3922_1308_D->N 0.000199681 196 chr12:70960313:T:G 6648_3806_1269_K->T 0.000199681 196 chr12:70960350:G:A 6648_3769_1257_R->C 0.000199681 196 chr12:70960370:G:A 6648_3749_1250_T->I 0.00159744 196 chr12:70960460:A:G 6648_3659_1220_I->T 0.000199681 196 chr12:70960476:A:C 6648_3643_1215_S->A 0.000199681 196 chr12:70963494:C:G 6648_3595_1199_G->R 0.000199681 196 chr12:70963559:A:G 6648_3530_1177_F->S 0.000599042 196 chr12:70963563:C:T 6648_3526_1176_V->I 0.000199681 196 chr12:70963598:C:T 6648_3491_1164_S->N 0.00119808 196 chr12:70963613:G:A 6648_3476_1159_S->L 0.000199681 196 chr12:70963619:G:A 6648_3470_1157_T->M 0.0684904 196 chr12:70963633:G:T 6648_3456_1152_D->E 0.000199681 196 chr12:70963641:C:A 6648_3448_1150_G->W 0.00139776 196 chr12:70963659:C:A 6648_3430_1144_V->L 0.00319489 196 chr12:70963661:G:A 6648_3428_1143_T->M 0.000199681 196 chr12:70963666:G:T 6648_3423_1141_S->R 0.000199681 196 chr12:70963689:A:G 6648_3400_1134_S->P 0.000199681 196 chr12:70963691:A:G 6648_3398_1133_I->T 0.000199681 196 chr12:70964826:G:A 6648_3350_1117_A->V 0.000199681 196 chr12:70964845:C:T 6648_3331_1111_G->R 0.000199681 196 chr12:70964914:C:T 6648_3262_1088_A->T 0.000199681 196 chr12:70965009:G:A 6648_3167_1056_T->I 0.000798722 196 chr12:70965051:T:A 6648_3125_1042_D->V 0.000399361 196 chr12:70965613:C:T 6648_3097_1033_G->R 0.000399361 196 chr12:70965790:T:C 6648_2920_974_T->A 0.000199681 196 chr12:70965804:G:A 6648_2906_969_S->F 0.000199681 196 chr12:70965843:C:T 6648_2867_956_S->N 0.000199681 196 chr12:70970243:T:C 6648_2761_921_T->A 0.000199681 196 chr12:70970293:T:C 6648_2711_904_Q->R 0.024361 196 chr12:70970300:C:A 6648_2704_902_V->L 0.000199681 196 chr12:70970347:G:T 6648_2657_886_P->H 0.000399361 196 chr12:70970362:G:A 6648_2642_881_S->F 0.000998403 196 chr12:70974842:C:T 6648_2552_851_R->Q 0.000199681 196 chr12:70974848:G:C 6648_2546_849_S->C 0.000199681 196 chr12:70974894:C:T 6648_2500_834_G->S 0.000199681 196 chr12:70980848:C:T 6648_2250_750_M->I 0.0163738 196 chr12:70980858:C:T 6648_2240_747_R->Q 0.000199681 196 chr12:70980877:T:C 6648_2221_741_T->A 0.000199681 196 chr12:70983895:A:C 6648_1899_633_D->E 0.0808706 196 chr12:70983956:A:G 6648_1838_613_V->A 0.00419329 196 chr12:70984007:T:C 6648_1787_596_D->G 0.000199681 196 chr12:70986137:C:T 6648_1705_569_G->S 0.000199681 196 chr12:70986203:T:C 6648_1639_547_T->A 0.000199681 196 chr12:70986295:G:A 6648_1547_516_T->I 0.000199681 196 chr12:70988328:T:C 6648_1435_479_T->A 0.000399361 196 chr12:70988334:C:T 6648_1429_477_G->R 0.000599042 196 chr12:70988373:C:T 6648_1390_464_G->S 0.000399361 196 chr12:70988400:T:C 6648_1363_455_M->V 0.000199681 196 chr12:70988417:C:T 6648_1346_449_R->Q 0.000199681 196 chr12:70988437:A:T 6648_1326_442_H->Q 0.000399361 196 chr12:70988484:T:C 6648_1279_427_I->V 0.000199681 196 chr12:70989862:G:A 6648_1225_409_R->C 0.000599042 196 chr12:70989918:T:C 6648_1169_390_N->S 0.000399361 196 chr12:70989932:T:A 6648_1155_385_E->D 0.000199681 196 chr12:70989967:C:T 6648_1120_374_G->R 0.000199681 196 chr12:70990024:C:T 6648_1063_355_G->R 0.000199681 196 chr12:70990054:T:C 6648_1033_345_S->G 0.320088 196 chr12:71002893:C:T 6648_935_312_R->K 0.408746 196 chr12:71002917:T:C 6648_911_304_Q->R 0.000798722 196 chr12:71002977:G:A 6648_851_284_A->V 0.000199681 196 chr12:71003077:C:T 6648_751_251_E->K 0.000199681 196 chr12:71016187:A:C 6648_691_231_S->A 0.000399361 196 chr12:71016217:A:T 6648_661_221_S->T 0.000199681 196 chr12:71016226:T:C 6648_652_218_T->A 0.000199681 196 chr12:71016262:C:T 6648_616_206_E->K 0.000399361 196 chr12:71016292:C:T 6648_586_196_A->T 0.000199681 196 chr12:71016339:C:T 6648_539_180_G->D 0.000399361 196 chr12:71016340:C:T 6648_538_180_G->S 0.0197684 196 chr12:71016410:T:G 6648_468_156_E->D 0.000199681 196 chr12:71029483:T:C 6648_419_140_K->R 0.000199681 196 chr12:71029664:G:A 6648_238_80_R->C 0.000199681 196 chr12:71029675:C:T 6648_227_76_R->H 0.00119808 196 chr12:71029715:C:T 6648_187_63_V->I 0.000199681 196 chr12:71029725:C:A 6648_177_59_K->N 0.00179712 196 chr12:71029733:C:T 6648_169_57_D->N 0.253794 196 chr12:71031141:C:T 6648_35_12_C->Y 0.000199681 196 na12878 Variants: 196 chr12:70990054:T:C 6648_1033_345_S->G 196 chr12:70983895:A:C 6648_1899_633_D->E 196 snyder Variants: 196 chr12:70990054:T:C 6648_1033_345_S->G 196 chr12:70983895:A:C 6648_1899_633_D->E 197 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000127329_ENST00000550857 gene_Name: PTPRB_HUMAN 197 list of pdbs: 197 2I5X pdb_description: 05-Sep-06 X-ray 1.700 Engineering the ptpbeta catalytic domain with improved cryst properties 197 2I4H pdb_description: 29-Aug-06 X-ray 2.150 Structural studies of protein tyrosine phosphatase beta cata domain co-crystallized with a sulfamic acid inhibitor 197 2I4G pdb_description: 29-Aug-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with a sulfamic acid (soaking experiment) 197 2I4E pdb_description: 29-Aug-06 X-ray 1.750 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 197 2I3U pdb_description: 29-Aug-06 X-ray 1.850 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 197 2I3R pdb_description: 29-Aug-06 X-ray 1.850 Engineered catalytic domain of protein tyrosine phosphatase 197 2HC2 pdb_description: 27-Jun-06 X-ray 1.400 Engineered protein tyrosine phosphatase beta catalytic domain 197 2HC1 pdb_description: 27-Jun-06 X-ray 1.300 Engineered catalytic domain of protein tyrosine phosphatase hptpbeta. 197 2H04 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta catalytic domain in complex with inhibitors 197 2H03 pdb_description: 13-Jun-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 197 2H02 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 197 2AHS pdb_description: 09-Aug-05 X-ray 2.100 Crystal structure of the catalytic domain of human tyrosine phosphatase beta 197 Zimmer Variants: 197 chr12:70990054:T:C 5724_379_127_S->G 197 HGMD Variants: 197 chr12:70990054:T:C 5724_379_127_S->G 197 oneKG Variants: 197 chr12:70964836:G:A 5724_2416_806_Q->* 0.000199681 197 chr12:70970294:G:A 5724_1786_596_Q->* 0.000199681 197 chr12:70918297:G:T 5724_5655_1885_N->K 0.000199681 197 chr12:70918313:C:T 5724_5639_1880_R->Q 0.000199681 197 chr12:70918329:T:C 5724_5623_1875_R->G 0.000199681 197 chr12:70925864:C:G 5724_5531_1844_G->A 0.0221645 197 chr12:70928280:A:G 5724_5432_1811_V->A 0.000199681 197 chr12:70928382:A:G 5724_5330_1777_V->A 0.000199681 197 chr12:70928654:C:T 5724_5239_1747_V->I 0.00119808 197 chr12:70929841:G:T 5724_5121_1707_N->K 0.000199681 197 chr12:70929932:T:C 5724_5030_1677_N->S 0.000998403 197 chr12:70929938:C:A 5724_5024_1675_G->V 0.000199681 197 chr12:70932002:G:A 5724_4955_1652_T->M 0.000199681 197 chr12:70932745:G:A 5724_4904_1635_P->L 0.000998403 197 chr12:70933430:T:C 5724_4829_1610_N->S 0.000399361 197 chr12:70933619:C:T 5724_4760_1587_R->Q 0.000199681 197 chr12:70933620:G:A 5724_4759_1587_R->W 0.000199681 197 chr12:70933755:C:T 5724_4718_1573_R->Q 0.000199681 197 chr12:70933762:T:C 5724_4711_1571_R->G 0.000199681 197 chr12:70933776:C:T 5724_4697_1566_R->H 0.00259585 197 chr12:70946725:C:T 5724_4295_1432_R->Q 0.000199681 197 chr12:70946729:T:C 5724_4291_1431_I->V 0.000199681 197 chr12:70949014:G:A 5724_4145_1382_T->I 0.00299521 197 chr12:70949062:C:T 5724_4097_1366_R->H 0.000998403 197 chr12:70949706:T:C 5724_4013_1338_Q->R 0.000399361 197 chr12:70953189:C:T 5724_3724_1242_V->I 0.00219649 197 chr12:70953278:G:A 5724_3635_1212_A->V 0.000199681 197 chr12:70953285:T:C 5724_3628_1210_R->G 0.000199681 197 chr12:70953295:C:A 5724_3618_1206_Q->H 0.000199681 197 chr12:70953369:T:G 5724_3544_1182_I->L 0.00139776 197 chr12:70954547:G:A 5724_3412_1138_R->W 0.00858626 197 chr12:70954678:C:T 5724_3281_1094_R->Q 0.000399361 197 chr12:70954681:T:C 5724_3278_1093_N->S 0.000199681 197 chr12:70956666:T:C 5724_3202_1068_S->G 0.00179712 197 chr12:70956870:C:T 5724_2998_1000_D->N 0.000199681 197 chr12:70960313:T:G 5724_2882_961_K->T 0.000199681 197 chr12:70960350:G:A 5724_2845_949_R->C 0.000199681 197 chr12:70960370:G:A 5724_2825_942_T->I 0.00159744 197 chr12:70960460:A:G 5724_2735_912_I->T 0.000199681 197 chr12:70960476:A:C 5724_2719_907_S->A 0.000199681 197 chr12:70963494:C:G 5724_2671_891_G->R 0.000199681 197 chr12:70963559:A:G 5724_2606_869_F->S 0.000599042 197 chr12:70963563:C:T 5724_2602_868_V->I 0.000199681 197 chr12:70963598:C:T 5724_2567_856_S->N 0.00119808 197 chr12:70963613:G:A 5724_2552_851_S->L 0.000199681 197 chr12:70963619:G:A 5724_2546_849_T->M 0.0684904 197 chr12:70963633:G:T 5724_2532_844_D->E 0.000199681 197 chr12:70963641:C:A 5724_2524_842_G->W 0.00139776 197 chr12:70963659:C:A 5724_2506_836_V->L 0.00319489 197 chr12:70963661:G:A 5724_2504_835_T->M 0.000199681 197 chr12:70963666:G:T 5724_2499_833_S->R 0.000199681 197 chr12:70963689:A:G 5724_2476_826_S->P 0.000199681 197 chr12:70963691:A:G 5724_2474_825_I->T 0.000199681 197 chr12:70964826:G:A 5724_2426_809_A->V 0.000199681 197 chr12:70964845:C:T 5724_2407_803_G->R 0.000199681 197 chr12:70964914:C:T 5724_2338_780_A->T 0.000199681 197 chr12:70965009:G:A 5724_2243_748_T->I 0.000798722 197 chr12:70965051:T:A 5724_2201_734_D->V 0.000399361 197 chr12:70965613:C:T 5724_2173_725_G->R 0.000399361 197 chr12:70965790:T:C 5724_1996_666_T->A 0.000199681 197 chr12:70965804:G:A 5724_1982_661_S->F 0.000199681 197 chr12:70965843:C:T 5724_1943_648_S->N 0.000199681 197 chr12:70970243:T:C 5724_1837_613_T->A 0.000199681 197 chr12:70970293:T:C 5724_1787_596_Q->R 0.024361 197 chr12:70970300:C:A 5724_1780_594_V->L 0.000199681 197 chr12:70970347:G:T 5724_1733_578_P->H 0.000399361 197 chr12:70970362:G:A 5724_1718_573_S->F 0.000998403 197 chr12:70974842:C:T 5724_1628_543_R->Q 0.000199681 197 chr12:70974848:G:C 5724_1622_541_S->C 0.000199681 197 chr12:70974894:C:T 5724_1576_526_G->S 0.000199681 197 chr12:70980848:C:T 5724_1326_442_M->I 0.0163738 197 chr12:70980858:C:T 5724_1316_439_R->Q 0.000199681 197 chr12:70980877:T:C 5724_1297_433_T->A 0.000199681 197 chr12:70986137:C:T 5724_1051_351_G->S 0.000199681 197 chr12:70986203:T:C 5724_985_329_T->A 0.000199681 197 chr12:70986295:G:A 5724_893_298_T->I 0.000199681 197 chr12:70988328:T:C 5724_781_261_T->A 0.000399361 197 chr12:70988334:C:T 5724_775_259_G->R 0.000599042 197 chr12:70988373:C:T 5724_736_246_G->S 0.000399361 197 chr12:70988400:T:C 5724_709_237_M->V 0.000199681 197 chr12:70988417:C:T 5724_692_231_R->Q 0.000199681 197 chr12:70988437:A:T 5724_672_224_H->Q 0.000399361 197 chr12:70988484:T:C 5724_625_209_I->V 0.000199681 197 chr12:70989862:G:A 5724_571_191_R->C 0.000599042 197 chr12:70989918:T:C 5724_515_172_N->S 0.000399361 197 chr12:70989932:T:A 5724_501_167_E->D 0.000199681 197 chr12:70989967:C:T 5724_466_156_G->R 0.000199681 197 chr12:70990024:C:T 5724_409_137_G->R 0.000199681 197 chr12:70990054:T:C 5724_379_127_S->G 0.320088 197 chr12:71002893:C:T 5724_281_94_R->K 0.408746 197 chr12:71002917:T:C 5724_257_86_Q->R 0.000798722 197 chr12:71002977:G:A 5724_197_66_A->V 0.000199681 197 chr12:71003077:C:T 5724_97_33_E->K 0.000199681 197 chr12:71003564:A:T 5724_31_11_W->R 0.000399361 197 chr12:71003573:A:C 5724_22_8_L->V 0.00758786 197 chr12:71003575:C:A 5724_20_7_G->V 0.000199681 197 na12878 Variants: 197 chr12:70990054:T:C 5724_379_127_S->G 197 snyder Variants: 197 chr12:70990054:T:C 5724_379_127_S->G 198 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000127329_ENST00000261266 gene_Name: PTPRB_HUMAN 198 list of pdbs: 198 2I5X pdb_description: 05-Sep-06 X-ray 1.700 Engineering the ptpbeta catalytic domain with improved cryst properties 198 2I4H pdb_description: 29-Aug-06 X-ray 2.150 Structural studies of protein tyrosine phosphatase beta cata domain co-crystallized with a sulfamic acid inhibitor 198 2I4G pdb_description: 29-Aug-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with a sulfamic acid (soaking experiment) 198 2I4E pdb_description: 29-Aug-06 X-ray 1.750 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 198 2I3U pdb_description: 29-Aug-06 X-ray 1.850 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 198 2I3R pdb_description: 29-Aug-06 X-ray 1.850 Engineered catalytic domain of protein tyrosine phosphatase 198 2HC2 pdb_description: 27-Jun-06 X-ray 1.400 Engineered protein tyrosine phosphatase beta catalytic domain 198 2HC1 pdb_description: 27-Jun-06 X-ray 1.300 Engineered catalytic domain of protein tyrosine phosphatase hptpbeta. 198 2H04 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta catalytic domain in complex with inhibitors 198 2H03 pdb_description: 13-Jun-06 X-ray 1.650 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 198 2H02 pdb_description: 13-Jun-06 X-ray 2.300 Structural studies of protein tyrosine phosphatase beta cata domain in complex with inhibitors 198 2AHS pdb_description: 09-Aug-05 X-ray 2.100 Crystal structure of the catalytic domain of human tyrosine phosphatase beta 198 Zimmer Variants: 198 chr12:70990054:T:C 5994_379_127_S->G 198 chr12:70983895:A:C 5994_1245_415_D->E 198 HGMD Variants: 198 chr12:70990054:T:C 5994_379_127_S->G 198 oneKG Variants: 198 chr12:70964836:G:A 5994_2686_896_Q->* 0.000199681 198 chr12:70970294:G:A 5994_2056_686_Q->* 0.000199681 198 chr12:70918297:G:T 5994_5925_1975_N->K 0.000199681 198 chr12:70918313:C:T 5994_5909_1970_R->Q 0.000199681 198 chr12:70918329:T:C 5994_5893_1965_R->G 0.000199681 198 chr12:70925864:C:G 5994_5801_1934_G->A 0.0221645 198 chr12:70928280:A:G 5994_5702_1901_V->A 0.000199681 198 chr12:70928382:A:G 5994_5600_1867_V->A 0.000199681 198 chr12:70928654:C:T 5994_5509_1837_V->I 0.00119808 198 chr12:70929841:G:T 5994_5391_1797_N->K 0.000199681 198 chr12:70929932:T:C 5994_5300_1767_N->S 0.000998403 198 chr12:70929938:C:A 5994_5294_1765_G->V 0.000199681 198 chr12:70932002:G:A 5994_5225_1742_T->M 0.000199681 198 chr12:70932745:G:A 5994_5174_1725_P->L 0.000998403 198 chr12:70933430:T:C 5994_5099_1700_N->S 0.000399361 198 chr12:70933619:C:T 5994_5030_1677_R->Q 0.000199681 198 chr12:70933620:G:A 5994_5029_1677_R->W 0.000199681 198 chr12:70933755:C:T 5994_4988_1663_R->Q 0.000199681 198 chr12:70933762:T:C 5994_4981_1661_R->G 0.000199681 198 chr12:70933776:C:T 5994_4967_1656_R->H 0.00259585 198 chr12:70946725:C:T 5994_4565_1522_R->Q 0.000199681 198 chr12:70946729:T:C 5994_4561_1521_I->V 0.000199681 198 chr12:70949014:G:A 5994_4415_1472_T->I 0.00299521 198 chr12:70949062:C:T 5994_4367_1456_R->H 0.000998403 198 chr12:70949706:T:C 5994_4283_1428_Q->R 0.000399361 198 chr12:70953189:C:T 5994_3994_1332_V->I 0.00219649 198 chr12:70953278:G:A 5994_3905_1302_A->V 0.000199681 198 chr12:70953285:T:C 5994_3898_1300_R->G 0.000199681 198 chr12:70953295:C:A 5994_3888_1296_Q->H 0.000199681 198 chr12:70953369:T:G 5994_3814_1272_I->L 0.00139776 198 chr12:70954547:G:A 5994_3682_1228_R->W 0.00858626 198 chr12:70954678:C:T 5994_3551_1184_R->Q 0.000399361 198 chr12:70954681:T:C 5994_3548_1183_N->S 0.000199681 198 chr12:70956666:T:C 5994_3472_1158_S->G 0.00179712 198 chr12:70956870:C:T 5994_3268_1090_D->N 0.000199681 198 chr12:70960313:T:G 5994_3152_1051_K->T 0.000199681 198 chr12:70960350:G:A 5994_3115_1039_R->C 0.000199681 198 chr12:70960370:G:A 5994_3095_1032_T->I 0.00159744 198 chr12:70960460:A:G 5994_3005_1002_I->T 0.000199681 198 chr12:70960476:A:C 5994_2989_997_S->A 0.000199681 198 chr12:70963494:C:G 5994_2941_981_G->R 0.000199681 198 chr12:70963559:A:G 5994_2876_959_F->S 0.000599042 198 chr12:70963563:C:T 5994_2872_958_V->I 0.000199681 198 chr12:70963598:C:T 5994_2837_946_S->N 0.00119808 198 chr12:70963613:G:A 5994_2822_941_S->L 0.000199681 198 chr12:70963619:G:A 5994_2816_939_T->M 0.0684904 198 chr12:70963633:G:T 5994_2802_934_D->E 0.000199681 198 chr12:70963641:C:A 5994_2794_932_G->W 0.00139776 198 chr12:70963659:C:A 5994_2776_926_V->L 0.00319489 198 chr12:70963661:G:A 5994_2774_925_T->M 0.000199681 198 chr12:70963666:G:T 5994_2769_923_S->R 0.000199681 198 chr12:70963689:A:G 5994_2746_916_S->P 0.000199681 198 chr12:70963691:A:G 5994_2744_915_I->T 0.000199681 198 chr12:70964826:G:A 5994_2696_899_A->V 0.000199681 198 chr12:70964845:C:T 5994_2677_893_G->R 0.000199681 198 chr12:70964914:C:T 5994_2608_870_A->T 0.000199681 198 chr12:70965009:G:A 5994_2513_838_T->I 0.000798722 198 chr12:70965051:T:A 5994_2471_824_D->V 0.000399361 198 chr12:70965613:C:T 5994_2443_815_G->R 0.000399361 198 chr12:70965790:T:C 5994_2266_756_T->A 0.000199681 198 chr12:70965804:G:A 5994_2252_751_S->F 0.000199681 198 chr12:70965843:C:T 5994_2213_738_S->N 0.000199681 198 chr12:70970243:T:C 5994_2107_703_T->A 0.000199681 198 chr12:70970293:T:C 5994_2057_686_Q->R 0.024361 198 chr12:70970300:C:A 5994_2050_684_V->L 0.000199681 198 chr12:70970347:G:T 5994_2003_668_P->H 0.000399361 198 chr12:70970362:G:A 5994_1988_663_S->F 0.000998403 198 chr12:70974842:C:T 5994_1898_633_R->Q 0.000199681 198 chr12:70974848:G:C 5994_1892_631_S->C 0.000199681 198 chr12:70974894:C:T 5994_1846_616_G->S 0.000199681 198 chr12:70980848:C:T 5994_1596_532_M->I 0.0163738 198 chr12:70980858:C:T 5994_1586_529_R->Q 0.000199681 198 chr12:70980877:T:C 5994_1567_523_T->A 0.000199681 198 chr12:70983895:A:C 5994_1245_415_D->E 0.0808706 198 chr12:70983956:A:G 5994_1184_395_V->A 0.00419329 198 chr12:70984007:T:C 5994_1133_378_D->G 0.000199681 198 chr12:70986137:C:T 5994_1051_351_G->S 0.000199681 198 chr12:70986203:T:C 5994_985_329_T->A 0.000199681 198 chr12:70986295:G:A 5994_893_298_T->I 0.000199681 198 chr12:70988328:T:C 5994_781_261_T->A 0.000399361 198 chr12:70988334:C:T 5994_775_259_G->R 0.000599042 198 chr12:70988373:C:T 5994_736_246_G->S 0.000399361 198 chr12:70988400:T:C 5994_709_237_M->V 0.000199681 198 chr12:70988417:C:T 5994_692_231_R->Q 0.000199681 198 chr12:70988437:A:T 5994_672_224_H->Q 0.000399361 198 chr12:70988484:T:C 5994_625_209_I->V 0.000199681 198 chr12:70989862:G:A 5994_571_191_R->C 0.000599042 198 chr12:70989918:T:C 5994_515_172_N->S 0.000399361 198 chr12:70989932:T:A 5994_501_167_E->D 0.000199681 198 chr12:70989967:C:T 5994_466_156_G->R 0.000199681 198 chr12:70990024:C:T 5994_409_137_G->R 0.000199681 198 chr12:70990054:T:C 5994_379_127_S->G 0.320088 198 chr12:71002893:C:T 5994_281_94_R->K 0.408746 198 chr12:71002917:T:C 5994_257_86_Q->R 0.000798722 198 chr12:71002977:G:A 5994_197_66_A->V 0.000199681 198 chr12:71003077:C:T 5994_97_33_E->K 0.000199681 198 chr12:71003564:A:T 5994_31_11_W->R 0.000399361 198 chr12:71003573:A:C 5994_22_8_L->V 0.00758786 198 chr12:71003575:C:A 5994_20_7_G->V 0.000199681 198 na12878 Variants: 198 chr12:70990054:T:C 5994_379_127_S->G 198 chr12:70983895:A:C 5994_1245_415_D->E 198 snyder Variants: 198 chr12:70990054:T:C 5994_379_127_S->G 198 chr12:70983895:A:C 5994_1245_415_D->E 199 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136111_ENST00000377636 gene_Name: TBCD4_HUMAN 199 list of pdbs: 199 3QYB pdb_description: 23-Mar-11 X-ray 3.500 X-ray crystal structure of human tbc1d4 (as160) rabgap domai 199 Zimmer Variants: 199 chr13:75887003:T:C 3897_2254_752_T->A 199 chr13:75884216:C:T 3897_2455_819_V->I 199 HGMD Variants: 199 chr13:75898521:G:A 3897_2050_684_R->* 199 chr13:75933988:G:A 3897_1087_363_R->* 199 oneKG Variants: 199 chr13:75860967:G:T 3897_3858_1286_C->* 0.000199681 199 chr13:75876520:G:A 3897_2770_924_R->* 0.000199681 199 chr13:75900552:G:T 3897_1814_605_S->* 0.000199681 199 chr13:75860990:G:C 3897_3835_1279_L->V 0.000199681 199 chr13:75860998:T:C 3897_3827_1276_N->S 0.000798722 199 chr13:75861001:A:G 3897_3824_1275_V->A 0.174321 199 chr13:75861028:C:T 3897_3797_1266_R->Q 0.000199681 199 chr13:75861063:T:A 3897_3762_1254_E->D 0.000998403 199 chr13:75861080:G:A 3897_3745_1249_R->W 0.000399361 199 chr13:75863116:T:C 3897_3617_1206_N->S 0.0129792 199 chr13:75866284:G:A 3897_3440_1147_T->M 0.0363419 199 chr13:75866333:T:C 3897_3391_1131_I->V 0.00179712 199 chr13:75866368:A:G 3897_3356_1119_V->A 0.00698882 199 chr13:75869137:G:C 3897_3169_1057_Q->E 0.000399361 199 chr13:75873480:T:C 3897_3142_1048_M->V 0.000199681 199 chr13:75873500:C:T 3897_3122_1041_R->H 0.000199681 199 chr13:75873507:C:T 3897_3115_1039_G->S 0.000199681 199 chr13:75876388:C:T 3897_2902_968_V->M 0.000199681 199 chr13:75884162:T:C 3897_2509_837_K->E 0.000199681 199 chr13:75884197:T:A 3897_2474_825_D->V 0.000399361 199 chr13:75884216:C:T 3897_2455_819_V->I 0.288139 199 chr13:75884249:G:C 3897_2422_808_L->V 0.000199681 199 chr13:75886902:G:C 3897_2355_785_N->K 0.00479233 199 chr13:75887002:G:A 3897_2255_752_T->I 0.000199681 199 chr13:75887003:T:C 3897_2254_752_T->A 0.00479233 199 chr13:75894166:T:C 3897_2206_736_T->A 0.000199681 199 chr13:75898424:C:T 3897_2147_716_S->N 0.00439297 199 chr13:75898521:G:C 3897_2050_684_R->G 0.0103834 199 chr13:75898529:G:A 3897_2042_681_S->L 0.000199681 199 chr13:75900373:G:A 3897_1993_665_R->C 0.000199681 199 chr13:75900465:G:A 3897_1901_634_P->L 0.000399361 199 chr13:75900474:G:A 3897_1892_631_S->F 0.000199681 199 chr13:75900481:C:T 3897_1885_629_E->K 0.000199681 199 chr13:75900510:G:A 3897_1856_619_P->L 0.00279553 199 chr13:75901940:C:T 3897_1754_585_R->Q 0.000199681 199 chr13:75915303:T:G 3897_1569_523_E->D 0.000798722 199 chr13:75915323:G:A 3897_1549_517_H->Y 0.000199681 199 chr13:75923344:G:A 3897_1370_457_P->L 0.000399361 199 chr13:75930341:G:A 3897_1217_406_P->L 0.000199681 199 chr13:75936269:T:C 3897_973_325_R->G 0.000199681 199 chr13:75936328:C:G 3897_914_305_G->A 0.000998403 199 chr13:75936334:T:G 3897_908_303_D->A 0.00359425 199 chr13:75936430:G:C 3897_812_271_A->G 0.00259585 199 chr13:75936460:C:A 3897_782_261_G->V 0.000199681 199 chr13:75936550:A:C 3897_692_231_L->R 0.000199681 199 chr13:75936608:C:A 3897_634_212_V->L 0.000199681 199 chr13:76055491:T:G 3897_413_138_Y->S 0.000399361 199 chr13:76055530:T:C 3897_374_125_H->R 0.000199681 199 chr13:76055602:G:A 3897_302_101_A->V 0.111022 199 chr13:76055618:C:A 3897_286_96_A->S 0.000199681 199 chr13:76055629:C:A 3897_275_92_R->L 0.000199681 199 chr13:76055666:G:C 3897_238_80_R->G 0.000599042 199 chr13:76055698:G:A 3897_206_69_P->L 0.000199681 199 chr13:76055738:G:A 3897_166_56_P->S 0.000199681 199 chr13:76055849:C:T 3897_55_19_E->K 0.000199681 199 chr13:76055867:G:A 3897_37_13_P->S 0.000199681 199 na12878 Variants: 199 chr13:75900510:G:A 3897_1856_619_P->L 199 chr13:75884216:C:T 3897_2455_819_V->I 199 snyder Variants: 199 chr13:75866284:G:A 3897_3440_1147_T->M 199 chr13:75884216:C:T 3897_2455_819_V->I 199 chr13:76055602:G:A 3897_302_101_A->V 200 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136111_ENST00000431480 gene_Name: TBCD4_HUMAN 200 list of pdbs: 200 3QYB pdb_description: 23-Mar-11 X-ray 3.500 X-ray crystal structure of human tbc1d4 (as160) rabgap domai 200 Zimmer Variants: 200 chr13:75887003:T:C 3873_2230_744_T->A;HUB=PPI;GENE=TBC1D4;CDSS=3 200 chr13:75884216:C:T 3873_2431_811_V->I 200 HGMD Variants: 200 chr13:75898521:G:A 3873_2050_684_R->* 200 chr13:75933988:G:A 3873_1087_363_R->* 200 oneKG Variants: 200 chr13:75860967:G:T 3873_3834_1278_C->* 0.000199681 200 chr13:75876520:G:A 3873_2746_916_R->* 0.000199681 200 chr13:75900552:G:T 3873_1814_605_S->* 0.000199681 200 chr13:75860990:G:C 3873_3811_1271_L->V 0.000199681 200 chr13:75860998:T:C 3873_3803_1268_N->S 0.000798722 200 chr13:75861001:A:G 3873_3800_1267_V->A 0.174321 200 chr13:75861028:C:T 3873_3773_1258_R->Q 0.000199681 200 chr13:75861063:T:A 3873_3738_1246_E->D 0.000998403 200 chr13:75861080:G:A 3873_3721_1241_R->W 0.000399361 200 chr13:75863116:T:C 3873_3593_1198_N->S 0.0129792 200 chr13:75866284:G:A 3873_3416_1139_T->M 0.0363419 200 chr13:75866333:T:C 3873_3367_1123_I->V 0.00179712 200 chr13:75866368:A:G 3873_3332_1111_V->A 0.00698882 200 chr13:75869137:G:C 3873_3145_1049_Q->E 0.000399361 200 chr13:75873480:T:C 3873_3118_1040_M->V 0.000199681 200 chr13:75873500:C:T 3873_3098_1033_R->H 0.000199681 200 chr13:75873507:C:T 3873_3091_1031_G->S 0.000199681 200 chr13:75876388:C:T 3873_2878_960_V->M 0.000199681 200 chr13:75884162:T:C 3873_2485_829_K->E 0.000199681 200 chr13:75884197:T:A 3873_2450_817_D->V 0.000399361 200 chr13:75884216:C:T 3873_2431_811_V->I 0.288139 200 chr13:75884249:G:C 3873_2398_800_L->V 0.000199681 200 chr13:75886902:G:C 3873_2331_777_N->K 0.00479233 200 chr13:75887002:G:A 3873_2231_744_T->I 0.000199681 200 chr13:75887003:T:C 3873_2230_744_T->A 0.00479233 200 chr13:75898424:C:T 3873_2147_716_S->N 0.00439297 200 chr13:75898521:G:C 3873_2050_684_R->G 0.0103834 200 chr13:75898529:G:A 3873_2042_681_S->L 0.000199681 200 chr13:75900373:G:A 3873_1993_665_R->C 0.000199681 200 chr13:75900465:G:A 3873_1901_634_P->L 0.000399361 200 chr13:75900474:G:A 3873_1892_631_S->F 0.000199681 200 chr13:75900481:C:T 3873_1885_629_E->K 0.000199681 200 chr13:75900510:G:A 3873_1856_619_P->L 0.00279553 200 chr13:75901940:C:T 3873_1754_585_R->Q 0.000199681 200 chr13:75915303:T:G 3873_1569_523_E->D 0.000798722 200 chr13:75915323:G:A 3873_1549_517_H->Y 0.000199681 200 chr13:75923344:G:A 3873_1370_457_P->L 0.000399361 200 chr13:75930341:G:A 3873_1217_406_P->L 0.000199681 200 chr13:75936269:T:C 3873_973_325_R->G 0.000199681 200 chr13:75936328:C:G 3873_914_305_G->A 0.000998403 200 chr13:75936334:T:G 3873_908_303_D->A 0.00359425 200 chr13:75936430:G:C 3873_812_271_A->G 0.00259585 200 chr13:75936460:C:A 3873_782_261_G->V 0.000199681 200 chr13:75936550:A:C 3873_692_231_L->R 0.000199681 200 chr13:75936608:C:A 3873_634_212_V->L 0.000199681 200 chr13:76055491:T:G 3873_413_138_Y->S 0.000399361 200 chr13:76055530:T:C 3873_374_125_H->R 0.000199681 200 chr13:76055602:G:A 3873_302_101_A->V 0.111022 200 chr13:76055618:C:A 3873_286_96_A->S 0.000199681 200 chr13:76055629:C:A 3873_275_92_R->L 0.000199681 200 chr13:76055666:G:C 3873_238_80_R->G 0.000599042 200 chr13:76055698:G:A 3873_206_69_P->L 0.000199681 200 chr13:76055738:G:A 3873_166_56_P->S 0.000199681 200 chr13:76055849:C:T 3873_55_19_E->K 0.000199681 200 chr13:76055867:G:A 3873_37_13_P->S 0.000199681 200 na12878 Variants: 200 chr13:75900510:G:A 3873_1856_619_P->L 200 chr13:75884216:C:T 3873_2431_811_V->I 200 snyder Variants: 200 chr13:75866284:G:A 3873_3416_1139_T->M 200 chr13:75884216:C:T 3873_2431_811_V->I 200 chr13:76055602:G:A 3873_302_101_A->V 201 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136111_ENST00000377625 gene_Name: TBCD4_HUMAN 201 list of pdbs: 201 3QYB pdb_description: 23-Mar-11 X-ray 3.500 X-ray crystal structure of human tbc1d4 (as160) rabgap domai 201 Zimmer Variants: 201 chr13:75887003:T:C 3708_2065_689_T->A 201 chr13:75884216:C:T 3708_2266_756_V->I 201 HGMD Variants: 201 chr13:75933988:G:A 3708_1087_363_R->* 201 oneKG Variants: 201 chr13:75860967:G:T 3708_3669_1223_C->* 0.000199681 201 chr13:75876520:G:A 3708_2581_861_R->* 0.000199681 201 chr13:75900552:G:T 3708_1814_605_S->* 0.000199681 201 chr13:75860990:G:C 3708_3646_1216_L->V 0.000199681 201 chr13:75860998:T:C 3708_3638_1213_N->S 0.000798722 201 chr13:75861001:A:G 3708_3635_1212_V->A 0.174321 201 chr13:75861028:C:T 3708_3608_1203_R->Q 0.000199681 201 chr13:75861063:T:A 3708_3573_1191_E->D 0.000998403 201 chr13:75861080:G:A 3708_3556_1186_R->W 0.000399361 201 chr13:75863116:T:C 3708_3428_1143_N->S 0.0129792 201 chr13:75866284:G:A 3708_3251_1084_T->M 0.0363419 201 chr13:75866333:T:C 3708_3202_1068_I->V 0.00179712 201 chr13:75866368:A:G 3708_3167_1056_V->A 0.00698882 201 chr13:75869137:G:C 3708_2980_994_Q->E 0.000399361 201 chr13:75873480:T:C 3708_2953_985_M->V 0.000199681 201 chr13:75873500:C:T 3708_2933_978_R->H 0.000199681 201 chr13:75873507:C:T 3708_2926_976_G->S 0.000199681 201 chr13:75876388:C:T 3708_2713_905_V->M 0.000199681 201 chr13:75884162:T:C 3708_2320_774_K->E 0.000199681 201 chr13:75884197:T:A 3708_2285_762_D->V 0.000399361 201 chr13:75884216:C:T 3708_2266_756_V->I 0.288139 201 chr13:75884249:G:C 3708_2233_745_L->V 0.000199681 201 chr13:75886902:G:C 3708_2166_722_N->K 0.00479233 201 chr13:75887002:G:A 3708_2066_689_T->I 0.000199681 201 chr13:75887003:T:C 3708_2065_689_T->A 0.00479233 201 chr13:75900373:G:A 3708_1993_665_R->C 0.000199681 201 chr13:75900465:G:A 3708_1901_634_P->L 0.000399361 201 chr13:75900474:G:A 3708_1892_631_S->F 0.000199681 201 chr13:75900481:C:T 3708_1885_629_E->K 0.000199681 201 chr13:75900510:G:A 3708_1856_619_P->L 0.00279553 201 chr13:75901940:C:T 3708_1754_585_R->Q 0.000199681 201 chr13:75915303:T:G 3708_1569_523_E->D 0.000798722 201 chr13:75915323:G:A 3708_1549_517_H->Y 0.000199681 201 chr13:75923344:G:A 3708_1370_457_P->L 0.000399361 201 chr13:75930341:G:A 3708_1217_406_P->L 0.000199681 201 chr13:75936269:T:C 3708_973_325_R->G 0.000199681 201 chr13:75936328:C:G 3708_914_305_G->A 0.000998403 201 chr13:75936334:T:G 3708_908_303_D->A 0.00359425 201 chr13:75936430:G:C 3708_812_271_A->G 0.00259585 201 chr13:75936460:C:A 3708_782_261_G->V 0.000199681 201 chr13:75936550:A:C 3708_692_231_L->R 0.000199681 201 chr13:75936608:C:A 3708_634_212_V->L 0.000199681 201 chr13:76055491:T:G 3708_413_138_Y->S 0.000399361 201 chr13:76055530:T:C 3708_374_125_H->R 0.000199681 201 chr13:76055602:G:A 3708_302_101_A->V 0.111022 201 chr13:76055618:C:A 3708_286_96_A->S 0.000199681 201 chr13:76055629:C:A 3708_275_92_R->L 0.000199681 201 chr13:76055666:G:C 3708_238_80_R->G 0.000599042 201 chr13:76055698:G:A 3708_206_69_P->L 0.000199681 201 chr13:76055738:G:A 3708_166_56_P->S 0.000199681 201 chr13:76055849:C:T 3708_55_19_E->K 0.000199681 201 chr13:76055867:G:A 3708_37_13_P->S 0.000199681 201 na12878 Variants: 201 chr13:75900510:G:A 3708_1856_619_P->L 201 chr13:75884216:C:T 3708_2266_756_V->I 201 snyder Variants: 201 chr13:75866284:G:A 3708_3251_1084_T->M 201 chr13:75884216:C:T 3708_2266_756_V->I 201 chr13:76055602:G:A 3708_302_101_A->V 202 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136158_ENST00000377102 gene_Name: SPY2_HUMAN 202 list of pdbs: 202 3OB1 pdb_description: 18-Aug-10 X-ray 2.200 Crystal structure of c-cbl tkb domain in complex with double phosphorylated spry2 peptide 202 3BUM pdb_description: 26-Feb-08 X-ray 2.000 Crystal structure of c-cbl-tkb domain complexed with its binding motif in sprouty2 202 Zimmer Variants: 202 chr13:80911525:G:A 948_316_106_P->S 202 HGMD Variants: 202 chr13:80911637:C:A 948_204_68_K->N 202 chr13:80911782:T:G 948_59_20_D->A 202 oneKG Variants: 202 chr13:80911142:A:C 948_699_233_D->E 0.000199681 202 chr13:80911354:G:A 948_487_163_L->F 0.000199681 202 chr13:80911408:C:A 948_433_145_V->F 0.000199681 202 chr13:80911460:G:T 948_381_127_S->R 0.000199681 202 chr13:80911525:G:A 948_316_106_P->S 0.286741 202 chr13:80911549:G:T 948_292_98_Q->K 0.000199681 202 chr13:80911575:C:T 948_266_89_R->H 0.000199681 202 chr13:80911596:A:G 948_245_82_L->P 0.000199681 202 chr13:80911611:T:C 948_230_77_H->R 0.000399361 202 chr13:80911692:C:T 948_149_50_R->Q 0.000199681 202 chr13:80911706:C:A 948_135_45_Q->H 0.000199681 202 chr13:80911782:T:G 948_59_20_D->A 0.00319489 202 chr13:80911815:T:C 948_26_9_N->S 0.000199681 202 chr13:80911827:G:A 948_14_5_A->V 0.000199681 202 na12878 Variants: 202 chr13:80911525:G:A 948_316_106_P->S 202 snyder Variants: 202 chr13:80911525:G:A 948_316_106_P->S 203 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136158_ENST00000377104 gene_Name: SPY2_HUMAN 203 list of pdbs: 203 3OB1 pdb_description: 18-Aug-10 X-ray 2.200 Crystal structure of c-cbl tkb domain in complex with double phosphorylated spry2 peptide 203 3BUM pdb_description: 26-Feb-08 X-ray 2.000 Crystal structure of c-cbl-tkb domain complexed with its binding motif in sprouty2 203 Zimmer Variants: 203 chr13:80911525:G:A 948_316_106_P->S 203 HGMD Variants: 203 chr13:80911637:C:A 948_204_68_K->N 203 chr13:80911782:T:G 948_59_20_D->A 203 oneKG Variants: 203 chr13:80911142:A:C 948_699_233_D->E 0.000199681 203 chr13:80911354:G:A 948_487_163_L->F 0.000199681 203 chr13:80911408:C:A 948_433_145_V->F 0.000199681 203 chr13:80911460:G:T 948_381_127_S->R 0.000199681 203 chr13:80911525:G:A 948_316_106_P->S 0.286741 203 chr13:80911549:G:T 948_292_98_Q->K 0.000199681 203 chr13:80911575:C:T 948_266_89_R->H 0.000199681 203 chr13:80911596:A:G 948_245_82_L->P 0.000199681 203 chr13:80911611:T:C 948_230_77_H->R 0.000399361 203 chr13:80911692:C:T 948_149_50_R->Q 0.000199681 203 chr13:80911706:C:A 948_135_45_Q->H 0.000199681 203 chr13:80911782:T:G 948_59_20_D->A 0.00319489 203 chr13:80911815:T:C 948_26_9_N->S 0.000199681 203 chr13:80911827:G:A 948_14_5_A->V 0.000199681 203 na12878 Variants: 203 chr13:80911525:G:A 948_316_106_P->S 203 snyder Variants: 203 chr13:80911525:G:A 948_316_106_P->S 204 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136158_ENST00000540649 gene_Name: SPY2_HUMAN 204 list of pdbs: 204 3OB1 pdb_description: 18-Aug-10 X-ray 2.200 Crystal structure of c-cbl tkb domain in complex with double phosphorylated spry2 peptide 204 3BUM pdb_description: 26-Feb-08 X-ray 2.000 Crystal structure of c-cbl-tkb domain complexed with its binding motif in sprouty2 204 Zimmer Variants: 204 chr13:80911525:G:A 948_316_106_P->S;HUB=PPI;GNEG=Yes;GENE=SPRY2;CDSS=3 204 HGMD Variants: 204 chr13:80911637:C:A 948_204_68_K->N 204 chr13:80911782:T:G 948_59_20_D->A 204 oneKG Variants: 204 chr13:80911142:A:C 948_699_233_D->E 0.000199681 204 chr13:80911354:G:A 948_487_163_L->F 0.000199681 204 chr13:80911408:C:A 948_433_145_V->F 0.000199681 204 chr13:80911460:G:T 948_381_127_S->R 0.000199681 204 chr13:80911525:G:A 948_316_106_P->S 0.286741 204 chr13:80911549:G:T 948_292_98_Q->K 0.000199681 204 chr13:80911575:C:T 948_266_89_R->H 0.000199681 204 chr13:80911596:A:G 948_245_82_L->P 0.000199681 204 chr13:80911611:T:C 948_230_77_H->R 0.000399361 204 chr13:80911692:C:T 948_149_50_R->Q 0.000199681 204 chr13:80911706:C:A 948_135_45_Q->H 0.000199681 204 chr13:80911782:T:G 948_59_20_D->A 0.00319489 204 chr13:80911815:T:C 948_26_9_N->S 0.000199681 204 chr13:80911827:G:A 948_14_5_A->V 0.000199681 204 na12878 Variants: 204 chr13:80911525:G:A 948_316_106_P->S 204 snyder Variants: 204 chr13:80911525:G:A 948_316_106_P->S 205 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000413692 gene_Name: NFAC4_HUMAN 205 list of pdbs: 205 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 205 Zimmer Variants: 205 chr14:24839083:G:C 2895_668_223_G->A 205 HGMD Variants: 205 chr14:24839083:G:C 2895_668_223_G->A 205 oneKG Variants: 205 chr14:24836262:T:G 2895_2_1_M->R 0.000199681 205 chr14:24836292:C:T 2895_32_11_A->V 0.000199681 205 chr14:24836306:A:T 2895_46_16_I->F 0.000199681 205 chr14:24837518:G:A 2895_161_54_G->D 0.000199681 205 chr14:24838818:C:A 2895_403_135_H->N 0.000199681 205 chr14:24838891:G:A 2895_476_159_G->E 0.000199681 205 chr14:24838935:C:T 2895_520_174_L->F 0.000399361 205 chr14:24838978:C:T 2895_563_188_P->L 0.000199681 205 chr14:24839025:G:C 2895_610_204_G->R 0.000199681 205 chr14:24839067:T:C 2895_652_218_Y->H 0.000399361 205 chr14:24839083:G:C 2895_668_223_G->A 0.280351 205 chr14:24839281:C:A 2895_866_289_T->N 0.00219649 205 chr14:24839292:C:T 2895_877_293_P->S 0.000199681 205 chr14:24839341:G:A 2895_926_309_S->N 0.00279553 205 chr14:24839373:C:T 2895_958_320_P->S 0.000199681 205 chr14:24839499:C:T 2895_1084_362_P->S 0.000199681 205 chr14:24839524:G:A 2895_1109_370_R->Q 0.000199681 205 chr14:24839569:C:T 2895_1154_385_P->L 0.000199681 205 chr14:24839757:G:A 2895_1342_448_A->T 0.000199681 205 chr14:24841695:G:C 2895_1434_478_E->D 0.000199681 205 chr14:24841717:G:A 2895_1456_486_V->I 0.00179712 205 chr14:24841801:G:A 2895_1540_514_V->I 0.000199681 205 chr14:24842377:C:G 2895_1549_517_L->V 0.000199681 205 chr14:24842498:C:T 2895_1670_557_T->M 0.000199681 205 chr14:24842563:A:C 2895_1735_579_N->H 0.000798722 205 chr14:24843575:C:A 2895_1965_655_S->R 0.000199681 205 chr14:24843603:G:A 2895_1993_665_E->K 0.00139776 205 chr14:24843658:T:C 2895_2048_683_I->T 0.000199681 205 chr14:24843664:G:A 2895_2054_685_R->K 0.000199681 205 chr14:24845185:C:T 2895_2123_708_T->M 0.00439297 205 chr14:24845229:C:T 2895_2167_723_R->W 0.000199681 205 chr14:24845260:A:G 2895_2198_733_N->S 0.000199681 205 chr14:24845266:G:A 2895_2204_735_R->Q 0.000199681 205 chr14:24845530:C:T 2895_2276_759_S->L 0.000399361 205 chr14:24845584:A:G 2895_2330_777_D->G 0.00159744 205 chr14:24845605:C:T 2895_2351_784_P->L 0.000199681 205 chr14:24845662:G:T 2895_2408_803_G->V 0.000199681 205 chr14:24845667:G:A 2895_2413_805_G->S 0.000399361 205 chr14:24845686:T:C 2895_2432_811_L->P 0.000599042 205 chr14:24845722:C:G 2895_2468_823_P->R 0.000199681 205 chr14:24845731:G:A 2895_2477_826_R->Q 0.000199681 205 chr14:24845735:G:T 2895_2481_827_M->I 0.000199681 205 chr14:24845804:C:A 2895_2550_850_F->L 0.000199681 205 chr14:24845830:G:A 2895_2576_859_G->D 0.000199681 205 chr14:24845841:T:C 2895_2587_863_S->P 0.358027 205 chr14:24845858:C:G 2895_2604_868_F->L 0.000199681 205 na12878 Variants: 205 chr14:24839083:G:C 2895_668_223_G->A 205 snyder Variants: 205 chr14:24839083:G:C 2895_668_223_G->A 206 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000554591 gene_Name: NFAC4_HUMAN 206 list of pdbs: 206 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 206 Zimmer Variants: 206 chr14:24839083:G:C 2574_668_223_G->A 206 HGMD Variants: 206 chr14:24839083:G:C 2574_668_223_G->A 206 oneKG Variants: 206 chr14:24836262:T:G 2574_2_1_M->R 0.000199681 206 chr14:24836292:C:T 2574_32_11_A->V 0.000199681 206 chr14:24836306:A:T 2574_46_16_I->F 0.000199681 206 chr14:24837518:G:A 2574_161_54_G->D 0.000199681 206 chr14:24838818:C:A 2574_403_135_H->N 0.000199681 206 chr14:24838891:G:A 2574_476_159_G->E 0.000199681 206 chr14:24838935:C:T 2574_520_174_L->F 0.000399361 206 chr14:24838978:C:T 2574_563_188_P->L 0.000199681 206 chr14:24839025:G:C 2574_610_204_G->R 0.000199681 206 chr14:24839067:T:C 2574_652_218_Y->H 0.000399361 206 chr14:24839083:G:C 2574_668_223_G->A 0.280351 206 chr14:24839281:C:A 2574_866_289_T->N 0.00219649 206 chr14:24839292:C:T 2574_877_293_P->S 0.000199681 206 chr14:24839341:G:A 2574_926_309_S->N 0.00279553 206 chr14:24839373:C:T 2574_958_320_P->S 0.000199681 206 chr14:24839499:C:T 2574_1084_362_P->S 0.000199681 206 chr14:24839524:G:A 2574_1109_370_R->Q 0.000199681 206 chr14:24839569:C:T 2574_1154_385_P->L 0.000199681 206 chr14:24839757:G:A 2574_1342_448_A->T 0.000199681 206 chr14:24841695:G:C 2574_1434_478_E->D 0.000199681 206 chr14:24841717:G:A 2574_1456_486_V->I 0.00179712 206 chr14:24841801:G:A 2574_1540_514_V->I 0.000199681 206 chr14:24842377:C:G 2574_1549_517_L->V 0.000199681 206 chr14:24842498:C:T 2574_1670_557_T->M 0.000199681 206 chr14:24842563:A:C 2574_1735_579_N->H 0.000798722 206 chr14:24843575:C:A 2574_1965_655_S->R 0.000199681 206 chr14:24843603:G:A 2574_1993_665_E->K 0.00139776 206 chr14:24843658:T:C 2574_2048_683_I->T 0.000199681 206 chr14:24843664:G:A 2574_2054_685_R->K 0.000199681 206 chr14:24845185:C:T 2574_2123_708_T->M 0.00439297 206 chr14:24845229:C:T 2574_2167_723_R->W 0.000199681 206 chr14:24845260:A:G 2574_2198_733_N->S 0.000199681 206 chr14:24845266:G:A 2574_2204_735_R->Q 0.000199681 206 chr14:24845530:C:T 2574_2276_759_S->L 0.000399361 206 chr14:24845584:A:G 2574_2330_777_D->G 0.00159744 206 chr14:24845605:C:T 2574_2351_784_P->L 0.000199681 206 chr14:24845662:G:T 2574_2408_803_G->V 0.000199681 206 chr14:24845667:G:A 2574_2413_805_G->S 0.000399361 206 chr14:24845686:T:C 2574_2432_811_L->P 0.000599042 206 chr14:24845722:C:G 2574_2468_823_P->R 0.000199681 206 chr14:24845731:G:A 2574_2477_826_R->Q 0.000199681 206 chr14:24845735:G:T 2574_2481_827_M->I 0.000199681 206 na12878 Variants: 206 chr14:24839083:G:C 2574_668_223_G->A 206 snyder Variants: 206 chr14:24839083:G:C 2574_668_223_G->A 207 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000555590 gene_Name: NFAC4_HUMAN 207 list of pdbs: 207 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 207 Zimmer Variants: 207 chr14:24839083:G:C 2748_518_173_G->A 207 HGMD Variants: 207 chr14:24839083:G:C 2748_518_173_G->A 207 oneKG Variants: 207 chr14:24837518:G:A 2748_11_4_G->D 0.000199681 207 chr14:24838818:C:A 2748_253_85_H->N 0.000199681 207 chr14:24838891:G:A 2748_326_109_G->E 0.000199681 207 chr14:24838935:C:T 2748_370_124_L->F 0.000399361 207 chr14:24838978:C:T 2748_413_138_P->L 0.000199681 207 chr14:24839025:G:C 2748_460_154_G->R 0.000199681 207 chr14:24839067:T:C 2748_502_168_Y->H 0.000399361 207 chr14:24839083:G:C 2748_518_173_G->A 0.280351 207 chr14:24839281:C:A 2748_716_239_T->N 0.00219649 207 chr14:24839292:C:T 2748_727_243_P->S 0.000199681 207 chr14:24839341:G:A 2748_776_259_S->N 0.00279553 207 chr14:24839373:C:T 2748_808_270_P->S 0.000199681 207 chr14:24839499:C:T 2748_934_312_P->S 0.000199681 207 chr14:24839524:G:A 2748_959_320_R->Q 0.000199681 207 chr14:24839569:C:T 2748_1004_335_P->L 0.000199681 207 chr14:24839757:G:A 2748_1192_398_A->T 0.000199681 207 chr14:24841695:G:C 2748_1284_428_E->D 0.000199681 207 chr14:24841717:G:A 2748_1306_436_V->I 0.00179712 207 chr14:24841801:G:A 2748_1390_464_V->I 0.000199681 207 chr14:24842377:C:G 2748_1399_467_L->V 0.000199681 207 chr14:24842498:C:T 2748_1520_507_T->M 0.000199681 207 chr14:24842563:A:C 2748_1585_529_N->H 0.000798722 207 chr14:24843575:C:A 2748_1815_605_S->R 0.000199681 207 chr14:24843603:G:A 2748_1843_615_E->K 0.00139776 207 chr14:24843658:T:C 2748_1898_633_I->T 0.000199681 207 chr14:24843664:G:A 2748_1904_635_R->K 0.000199681 207 chr14:24845185:C:T 2748_1973_658_T->M 0.00439297 207 chr14:24845229:C:T 2748_2017_673_R->W 0.000199681 207 chr14:24845260:A:G 2748_2048_683_N->S 0.000199681 207 chr14:24845266:G:A 2748_2054_685_R->Q 0.000199681 207 chr14:24845530:C:T 2748_2126_709_S->L 0.000399361 207 chr14:24845584:A:G 2748_2180_727_D->G 0.00159744 207 chr14:24845605:C:T 2748_2201_734_P->L 0.000199681 207 chr14:24845662:G:T 2748_2258_753_G->V 0.000199681 207 chr14:24845667:G:A 2748_2263_755_G->S 0.000399361 207 chr14:24845686:T:C 2748_2282_761_L->P 0.000599042 207 chr14:24845722:C:G 2748_2318_773_P->R 0.000199681 207 chr14:24845731:G:A 2748_2327_776_R->Q 0.000199681 207 chr14:24845735:G:T 2748_2331_777_M->I 0.000199681 207 chr14:24845804:C:A 2748_2400_800_F->L 0.000199681 207 chr14:24845830:G:A 2748_2426_809_G->D 0.000199681 207 chr14:24845841:T:C 2748_2437_813_S->P 0.358027 207 chr14:24845858:C:G 2748_2454_818_F->L 0.000199681 207 na12878 Variants: 207 chr14:24839083:G:C 2748_518_173_G->A 207 snyder Variants: 207 chr14:24839083:G:C 2748_518_173_G->A 208 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000554966 gene_Name: NFAC4_HUMAN 208 list of pdbs: 208 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 208 Zimmer Variants: 208 chr14:24839083:G:C 2424_518_173_G->A 208 HGMD Variants: 208 chr14:24839083:G:C 2424_518_173_G->A 208 oneKG Variants: 208 chr14:24837518:G:A 2424_11_4_G->D 0.000199681 208 chr14:24838818:C:A 2424_253_85_H->N 0.000199681 208 chr14:24838891:G:A 2424_326_109_G->E 0.000199681 208 chr14:24838935:C:T 2424_370_124_L->F 0.000399361 208 chr14:24838978:C:T 2424_413_138_P->L 0.000199681 208 chr14:24839025:G:C 2424_460_154_G->R 0.000199681 208 chr14:24839067:T:C 2424_502_168_Y->H 0.000399361 208 chr14:24839083:G:C 2424_518_173_G->A 0.280351 208 chr14:24839281:C:A 2424_716_239_T->N 0.00219649 208 chr14:24839292:C:T 2424_727_243_P->S 0.000199681 208 chr14:24839341:G:A 2424_776_259_S->N 0.00279553 208 chr14:24839373:C:T 2424_808_270_P->S 0.000199681 208 chr14:24839499:C:T 2424_934_312_P->S 0.000199681 208 chr14:24839524:G:A 2424_959_320_R->Q 0.000199681 208 chr14:24839569:C:T 2424_1004_335_P->L 0.000199681 208 chr14:24839757:G:A 2424_1192_398_A->T 0.000199681 208 chr14:24841695:G:C 2424_1284_428_E->D 0.000199681 208 chr14:24841717:G:A 2424_1306_436_V->I 0.00179712 208 chr14:24841801:G:A 2424_1390_464_V->I 0.000199681 208 chr14:24842377:C:G 2424_1399_467_L->V 0.000199681 208 chr14:24842498:C:T 2424_1520_507_T->M 0.000199681 208 chr14:24842563:A:C 2424_1585_529_N->H 0.000798722 208 chr14:24843575:C:A 2424_1815_605_S->R 0.000199681 208 chr14:24843603:G:A 2424_1843_615_E->K 0.00139776 208 chr14:24843658:T:C 2424_1898_633_I->T 0.000199681 208 chr14:24843664:G:A 2424_1904_635_R->K 0.000199681 208 chr14:24845185:C:T 2424_1973_658_T->M 0.00439297 208 chr14:24845229:C:T 2424_2017_673_R->W 0.000199681 208 chr14:24845260:A:G 2424_2048_683_N->S 0.000199681 208 chr14:24845266:G:A 2424_2054_685_R->Q 0.000199681 208 chr14:24845530:C:T 2424_2126_709_S->L 0.000399361 208 chr14:24845584:A:G 2424_2180_727_D->G 0.00159744 208 chr14:24845605:C:T 2424_2201_734_P->L 0.000199681 208 chr14:24845662:G:T 2424_2258_753_G->V 0.000199681 208 chr14:24845667:G:A 2424_2263_755_G->S 0.000399361 208 chr14:24845686:T:C 2424_2282_761_L->P 0.000599042 208 chr14:24845722:C:G 2424_2318_773_P->R 0.000199681 208 chr14:24845731:G:A 2424_2327_776_R->Q 0.000199681 208 chr14:24845735:G:T 2424_2331_777_M->I 0.000199681 208 na12878 Variants: 208 chr14:24839083:G:C 2424_518_173_G->A 208 snyder Variants: 208 chr14:24839083:G:C 2424_518_173_G->A 209 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000424781 gene_Name: NFAC4_HUMAN 209 list of pdbs: 209 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 209 Zimmer Variants: 209 chr14:24839083:G:C 2745_518_173_G->A 209 HGMD Variants: 209 chr14:24839083:G:C 2745_518_173_G->A 209 oneKG Variants: 209 chr14:24837518:G:A 2745_11_4_G->D 0.000199681 209 chr14:24838818:C:A 2745_253_85_H->N 0.000199681 209 chr14:24838891:G:A 2745_326_109_G->E 0.000199681 209 chr14:24838935:C:T 2745_370_124_L->F 0.000399361 209 chr14:24838978:C:T 2745_413_138_P->L 0.000199681 209 chr14:24839025:G:C 2745_460_154_G->R 0.000199681 209 chr14:24839067:T:C 2745_502_168_Y->H 0.000399361 209 chr14:24839083:G:C 2745_518_173_G->A 0.280351 209 chr14:24839281:C:A 2745_716_239_T->N 0.00219649 209 chr14:24839292:C:T 2745_727_243_P->S 0.000199681 209 chr14:24839341:G:A 2745_776_259_S->N 0.00279553 209 chr14:24839373:C:T 2745_808_270_P->S 0.000199681 209 chr14:24839499:C:T 2745_934_312_P->S 0.000199681 209 chr14:24839524:G:A 2745_959_320_R->Q 0.000199681 209 chr14:24839569:C:T 2745_1004_335_P->L 0.000199681 209 chr14:24839757:G:A 2745_1192_398_A->T 0.000199681 209 chr14:24841695:G:C 2745_1284_428_E->D 0.000199681 209 chr14:24841717:G:A 2745_1306_436_V->I 0.00179712 209 chr14:24841801:G:A 2745_1390_464_V->I 0.000199681 209 chr14:24842377:C:G 2745_1399_467_L->V 0.000199681 209 chr14:24842498:C:T 2745_1520_507_T->M 0.000199681 209 chr14:24842563:A:C 2745_1585_529_N->H 0.000798722 209 chr14:24843575:C:A 2745_1815_605_S->R 0.000199681 209 chr14:24843603:G:A 2745_1843_615_E->K 0.00139776 209 chr14:24843658:T:C 2745_1898_633_I->T 0.000199681 209 chr14:24843664:G:A 2745_1904_635_R->K 0.000199681 209 chr14:24845185:C:T 2745_1973_658_T->M 0.00439297 209 chr14:24845229:C:T 2745_2017_673_R->W 0.000199681 209 chr14:24845260:A:G 2745_2048_683_N->S 0.000199681 209 chr14:24845266:G:A 2745_2054_685_R->Q 0.000199681 209 chr14:24845530:C:T 2745_2126_709_S->L 0.000399361 209 chr14:24845584:A:G 2745_2180_727_D->G 0.00159744 209 chr14:24845605:C:T 2745_2201_734_P->L 0.000199681 209 chr14:24845662:G:T 2745_2258_753_G->V 0.000199681 209 chr14:24845667:G:A 2745_2263_755_G->S 0.000399361 209 chr14:24845686:T:C 2745_2282_761_L->P 0.000599042 209 chr14:24845722:C:G 2745_2318_773_P->R 0.000199681 209 chr14:24845731:G:A 2745_2327_776_R->Q 0.000199681 209 chr14:24845735:G:T 2745_2331_777_M->I 0.000199681 209 chr14:24845804:C:A 2745_2400_800_F->L 0.000199681 209 chr14:24845830:G:A 2745_2426_809_G->D 0.000199681 209 chr14:24845841:T:C 2745_2437_813_S->P 0.358027 209 chr14:24845858:C:G 2745_2454_818_F->L 0.000199681 209 na12878 Variants: 209 chr14:24839083:G:C 2745_518_173_G->A 209 snyder Variants: 209 chr14:24839083:G:C 2745_518_173_G->A 210 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000539237 gene_Name: NFAC4_HUMAN 210 list of pdbs: 210 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 210 Zimmer Variants: 210 chr14:24839083:G:C 2802_575_192_G->A 210 HGMD Variants: 210 chr14:24839083:G:C 2802_575_192_G->A 210 oneKG Variants: 210 chr14:24836815:C:G 2802_23_8_S->W 0.170128 210 chr14:24837518:G:A 2802_68_23_G->D 0.000199681 210 chr14:24838818:C:A 2802_310_104_H->N 0.000199681 210 chr14:24838891:G:A 2802_383_128_G->E 0.000199681 210 chr14:24838935:C:T 2802_427_143_L->F 0.000399361 210 chr14:24838978:C:T 2802_470_157_P->L 0.000199681 210 chr14:24839025:G:C 2802_517_173_G->R 0.000199681 210 chr14:24839067:T:C 2802_559_187_Y->H 0.000399361 210 chr14:24839083:G:C 2802_575_192_G->A 0.280351 210 chr14:24839281:C:A 2802_773_258_T->N 0.00219649 210 chr14:24839292:C:T 2802_784_262_P->S 0.000199681 210 chr14:24839341:G:A 2802_833_278_S->N 0.00279553 210 chr14:24839373:C:T 2802_865_289_P->S 0.000199681 210 chr14:24839499:C:T 2802_991_331_P->S 0.000199681 210 chr14:24839524:G:A 2802_1016_339_R->Q 0.000199681 210 chr14:24839569:C:T 2802_1061_354_P->L 0.000199681 210 chr14:24839757:G:A 2802_1249_417_A->T 0.000199681 210 chr14:24841695:G:C 2802_1341_447_E->D 0.000199681 210 chr14:24841717:G:A 2802_1363_455_V->I 0.00179712 210 chr14:24841801:G:A 2802_1447_483_V->I 0.000199681 210 chr14:24842377:C:G 2802_1456_486_L->V 0.000199681 210 chr14:24842498:C:T 2802_1577_526_T->M 0.000199681 210 chr14:24842563:A:C 2802_1642_548_N->H 0.000798722 210 chr14:24843575:C:A 2802_1872_624_S->R 0.000199681 210 chr14:24843603:G:A 2802_1900_634_E->K 0.00139776 210 chr14:24843658:T:C 2802_1955_652_I->T 0.000199681 210 chr14:24843664:G:A 2802_1961_654_R->K 0.000199681 210 chr14:24845185:C:T 2802_2030_677_T->M 0.00439297 210 chr14:24845229:C:T 2802_2074_692_R->W 0.000199681 210 chr14:24845260:A:G 2802_2105_702_N->S 0.000199681 210 chr14:24845266:G:A 2802_2111_704_R->Q 0.000199681 210 chr14:24845530:C:T 2802_2183_728_S->L 0.000399361 210 chr14:24845584:A:G 2802_2237_746_D->G 0.00159744 210 chr14:24845605:C:T 2802_2258_753_P->L 0.000199681 210 chr14:24845662:G:T 2802_2315_772_G->V 0.000199681 210 chr14:24845667:G:A 2802_2320_774_G->S 0.000399361 210 chr14:24845686:T:C 2802_2339_780_L->P 0.000599042 210 chr14:24845722:C:G 2802_2375_792_P->R 0.000199681 210 chr14:24845731:G:A 2802_2384_795_R->Q 0.000199681 210 chr14:24845735:G:T 2802_2388_796_M->I 0.000199681 210 chr14:24845804:C:A 2802_2457_819_F->L 0.000199681 210 chr14:24845830:G:A 2802_2483_828_G->D 0.000199681 210 chr14:24845841:T:C 2802_2494_832_S->P 0.358027 210 chr14:24845858:C:G 2802_2511_837_F->L 0.000199681 210 na12878 Variants: 210 chr14:24839083:G:C 2802_575_192_G->A 210 snyder Variants: 210 chr14:24839083:G:C 2802_575_192_G->A 211 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000556279 gene_Name: NFAC4_HUMAN 211 list of pdbs: 211 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 211 Zimmer Variants: 211 chr14:24839083:G:C 2805_575_192_G->A 211 HGMD Variants: 211 chr14:24839083:G:C 2805_575_192_G->A 211 oneKG Variants: 211 chr14:24836815:C:G 2805_23_8_S->W 0.170128 211 chr14:24837518:G:A 2805_68_23_G->D 0.000199681 211 chr14:24838818:C:A 2805_310_104_H->N 0.000199681 211 chr14:24838891:G:A 2805_383_128_G->E 0.000199681 211 chr14:24838935:C:T 2805_427_143_L->F 0.000399361 211 chr14:24838978:C:T 2805_470_157_P->L 0.000199681 211 chr14:24839025:G:C 2805_517_173_G->R 0.000199681 211 chr14:24839067:T:C 2805_559_187_Y->H 0.000399361 211 chr14:24839083:G:C 2805_575_192_G->A 0.280351 211 chr14:24839281:C:A 2805_773_258_T->N 0.00219649 211 chr14:24839292:C:T 2805_784_262_P->S 0.000199681 211 chr14:24839341:G:A 2805_833_278_S->N 0.00279553 211 chr14:24839373:C:T 2805_865_289_P->S 0.000199681 211 chr14:24839499:C:T 2805_991_331_P->S 0.000199681 211 chr14:24839524:G:A 2805_1016_339_R->Q 0.000199681 211 chr14:24839569:C:T 2805_1061_354_P->L 0.000199681 211 chr14:24839757:G:A 2805_1249_417_A->T 0.000199681 211 chr14:24841695:G:C 2805_1341_447_E->D 0.000199681 211 chr14:24841717:G:A 2805_1363_455_V->I 0.00179712 211 chr14:24841801:G:A 2805_1447_483_V->I 0.000199681 211 chr14:24842377:C:G 2805_1456_486_L->V 0.000199681 211 chr14:24842498:C:T 2805_1577_526_T->M 0.000199681 211 chr14:24842563:A:C 2805_1642_548_N->H 0.000798722 211 chr14:24843575:C:A 2805_1872_624_S->R 0.000199681 211 chr14:24843603:G:A 2805_1900_634_E->K 0.00139776 211 chr14:24843658:T:C 2805_1955_652_I->T 0.000199681 211 chr14:24843664:G:A 2805_1961_654_R->K 0.000199681 211 chr14:24845185:C:T 2805_2030_677_T->M 0.00439297 211 chr14:24845229:C:T 2805_2074_692_R->W 0.000199681 211 chr14:24845260:A:G 2805_2105_702_N->S 0.000199681 211 chr14:24845266:G:A 2805_2111_704_R->Q 0.000199681 211 chr14:24845530:C:T 2805_2183_728_S->L 0.000399361 211 chr14:24845584:A:G 2805_2237_746_D->G 0.00159744 211 chr14:24845605:C:T 2805_2258_753_P->L 0.000199681 211 chr14:24845662:G:T 2805_2315_772_G->V 0.000199681 211 chr14:24845667:G:A 2805_2320_774_G->S 0.000399361 211 chr14:24845686:T:C 2805_2339_780_L->P 0.000599042 211 chr14:24845722:C:G 2805_2375_792_P->R 0.000199681 211 chr14:24845731:G:A 2805_2384_795_R->Q 0.000199681 211 chr14:24845735:G:T 2805_2388_796_M->I 0.000199681 211 chr14:24845804:C:A 2805_2457_819_F->L 0.000199681 211 chr14:24845830:G:A 2805_2483_828_G->D 0.000199681 211 chr14:24845841:T:C 2805_2494_832_S->P 0.358027 211 chr14:24845858:C:G 2805_2511_837_F->L 0.000199681 211 na12878 Variants: 211 chr14:24839083:G:C 2805_575_192_G->A 211 snyder Variants: 211 chr14:24839083:G:C 2805_575_192_G->A 212 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000553469 gene_Name: NFAC4_HUMAN 212 list of pdbs: 212 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 212 Zimmer Variants: 212 chr14:24839083:G:C 2481_575_192_G->A 212 HGMD Variants: 212 chr14:24839083:G:C 2481_575_192_G->A 212 oneKG Variants: 212 chr14:24836815:C:G 2481_23_8_S->W 0.170128 212 chr14:24837518:G:A 2481_68_23_G->D 0.000199681 212 chr14:24838818:C:A 2481_310_104_H->N 0.000199681 212 chr14:24838891:G:A 2481_383_128_G->E 0.000199681 212 chr14:24838935:C:T 2481_427_143_L->F 0.000399361 212 chr14:24838978:C:T 2481_470_157_P->L 0.000199681 212 chr14:24839025:G:C 2481_517_173_G->R 0.000199681 212 chr14:24839067:T:C 2481_559_187_Y->H 0.000399361 212 chr14:24839083:G:C 2481_575_192_G->A 0.280351 212 chr14:24839281:C:A 2481_773_258_T->N 0.00219649 212 chr14:24839292:C:T 2481_784_262_P->S 0.000199681 212 chr14:24839341:G:A 2481_833_278_S->N 0.00279553 212 chr14:24839373:C:T 2481_865_289_P->S 0.000199681 212 chr14:24839499:C:T 2481_991_331_P->S 0.000199681 212 chr14:24839524:G:A 2481_1016_339_R->Q 0.000199681 212 chr14:24839569:C:T 2481_1061_354_P->L 0.000199681 212 chr14:24839757:G:A 2481_1249_417_A->T 0.000199681 212 chr14:24841695:G:C 2481_1341_447_E->D 0.000199681 212 chr14:24841717:G:A 2481_1363_455_V->I 0.00179712 212 chr14:24841801:G:A 2481_1447_483_V->I 0.000199681 212 chr14:24842377:C:G 2481_1456_486_L->V 0.000199681 212 chr14:24842498:C:T 2481_1577_526_T->M 0.000199681 212 chr14:24842563:A:C 2481_1642_548_N->H 0.000798722 212 chr14:24843575:C:A 2481_1872_624_S->R 0.000199681 212 chr14:24843603:G:A 2481_1900_634_E->K 0.00139776 212 chr14:24843658:T:C 2481_1955_652_I->T 0.000199681 212 chr14:24843664:G:A 2481_1961_654_R->K 0.000199681 212 chr14:24845185:C:T 2481_2030_677_T->M 0.00439297 212 chr14:24845229:C:T 2481_2074_692_R->W 0.000199681 212 chr14:24845260:A:G 2481_2105_702_N->S 0.000199681 212 chr14:24845266:G:A 2481_2111_704_R->Q 0.000199681 212 chr14:24845530:C:T 2481_2183_728_S->L 0.000399361 212 chr14:24845584:A:G 2481_2237_746_D->G 0.00159744 212 chr14:24845605:C:T 2481_2258_753_P->L 0.000199681 212 chr14:24845662:G:T 2481_2315_772_G->V 0.000199681 212 chr14:24845667:G:A 2481_2320_774_G->S 0.000399361 212 chr14:24845686:T:C 2481_2339_780_L->P 0.000599042 212 chr14:24845722:C:G 2481_2375_792_P->R 0.000199681 212 chr14:24845731:G:A 2481_2384_795_R->Q 0.000199681 212 chr14:24845735:G:T 2481_2388_796_M->I 0.000199681 212 na12878 Variants: 212 chr14:24839083:G:C 2481_575_192_G->A 212 snyder Variants: 212 chr14:24839083:G:C 2481_575_192_G->A 213 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000554050 gene_Name: NFAC4_HUMAN 213 list of pdbs: 213 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 213 Zimmer Variants: 213 chr14:24839083:G:C 2385_479_160_G->A 213 HGMD Variants: 213 chr14:24839083:G:C 2385_479_160_G->A 213 oneKG Variants: 213 chr14:24838818:C:A 2385_214_72_H->N 0.000199681 213 chr14:24838891:G:A 2385_287_96_G->E 0.000199681 213 chr14:24838935:C:T 2385_331_111_L->F 0.000399361 213 chr14:24838978:C:T 2385_374_125_P->L 0.000199681 213 chr14:24839025:G:C 2385_421_141_G->R 0.000199681 213 chr14:24839067:T:C 2385_463_155_Y->H 0.000399361 213 chr14:24839083:G:C 2385_479_160_G->A 0.280351 213 chr14:24839281:C:A 2385_677_226_T->N 0.00219649 213 chr14:24839292:C:T 2385_688_230_P->S 0.000199681 213 chr14:24839341:G:A 2385_737_246_S->N 0.00279553 213 chr14:24839373:C:T 2385_769_257_P->S 0.000199681 213 chr14:24839499:C:T 2385_895_299_P->S 0.000199681 213 chr14:24839524:G:A 2385_920_307_R->Q 0.000199681 213 chr14:24839569:C:T 2385_965_322_P->L 0.000199681 213 chr14:24839757:G:A 2385_1153_385_A->T 0.000199681 213 chr14:24841695:G:C 2385_1245_415_E->D 0.000199681 213 chr14:24841717:G:A 2385_1267_423_V->I 0.00179712 213 chr14:24841801:G:A 2385_1351_451_V->I 0.000199681 213 chr14:24842377:C:G 2385_1360_454_L->V 0.000199681 213 chr14:24842498:C:T 2385_1481_494_T->M 0.000199681 213 chr14:24842563:A:C 2385_1546_516_N->H 0.000798722 213 chr14:24843575:C:A 2385_1776_592_S->R 0.000199681 213 chr14:24843603:G:A 2385_1804_602_E->K 0.00139776 213 chr14:24843658:T:C 2385_1859_620_I->T 0.000199681 213 chr14:24843664:G:A 2385_1865_622_R->K 0.000199681 213 chr14:24845185:C:T 2385_1934_645_T->M 0.00439297 213 chr14:24845229:C:T 2385_1978_660_R->W 0.000199681 213 chr14:24845260:A:G 2385_2009_670_N->S 0.000199681 213 chr14:24845266:G:A 2385_2015_672_R->Q 0.000199681 213 chr14:24845530:C:T 2385_2087_696_S->L 0.000399361 213 chr14:24845584:A:G 2385_2141_714_D->G 0.00159744 213 chr14:24845605:C:T 2385_2162_721_P->L 0.000199681 213 chr14:24845662:G:T 2385_2219_740_G->V 0.000199681 213 chr14:24845667:G:A 2385_2224_742_G->S 0.000399361 213 chr14:24845686:T:C 2385_2243_748_L->P 0.000599042 213 chr14:24845722:C:G 2385_2279_760_P->R 0.000199681 213 chr14:24845731:G:A 2385_2288_763_R->Q 0.000199681 213 chr14:24845735:G:T 2385_2292_764_M->I 0.000199681 213 na12878 Variants: 213 chr14:24839083:G:C 2385_479_160_G->A 213 snyder Variants: 213 chr14:24839083:G:C 2385_479_160_G->A 214 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000250373 gene_Name: NFAC4_HUMAN 214 list of pdbs: 214 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 214 Zimmer Variants: 214 chr14:24839083:G:C 2709_479_160_G->A 214 HGMD Variants: 214 chr14:24839083:G:C 2709_479_160_G->A 214 oneKG Variants: 214 chr14:24838818:C:A 2709_214_72_H->N 0.000199681 214 chr14:24838891:G:A 2709_287_96_G->E 0.000199681 214 chr14:24838935:C:T 2709_331_111_L->F 0.000399361 214 chr14:24838978:C:T 2709_374_125_P->L 0.000199681 214 chr14:24839025:G:C 2709_421_141_G->R 0.000199681 214 chr14:24839067:T:C 2709_463_155_Y->H 0.000399361 214 chr14:24839083:G:C 2709_479_160_G->A 0.280351 214 chr14:24839281:C:A 2709_677_226_T->N 0.00219649 214 chr14:24839292:C:T 2709_688_230_P->S 0.000199681 214 chr14:24839341:G:A 2709_737_246_S->N 0.00279553 214 chr14:24839373:C:T 2709_769_257_P->S 0.000199681 214 chr14:24839499:C:T 2709_895_299_P->S 0.000199681 214 chr14:24839524:G:A 2709_920_307_R->Q 0.000199681 214 chr14:24839569:C:T 2709_965_322_P->L 0.000199681 214 chr14:24839757:G:A 2709_1153_385_A->T 0.000199681 214 chr14:24841695:G:C 2709_1245_415_E->D 0.000199681 214 chr14:24841717:G:A 2709_1267_423_V->I 0.00179712 214 chr14:24841801:G:A 2709_1351_451_V->I 0.000199681 214 chr14:24842377:C:G 2709_1360_454_L->V 0.000199681 214 chr14:24842498:C:T 2709_1481_494_T->M 0.000199681 214 chr14:24842563:A:C 2709_1546_516_N->H 0.000798722 214 chr14:24843575:C:A 2709_1776_592_S->R 0.000199681 214 chr14:24843603:G:A 2709_1804_602_E->K 0.00139776 214 chr14:24843658:T:C 2709_1859_620_I->T 0.000199681 214 chr14:24843664:G:A 2709_1865_622_R->K 0.000199681 214 chr14:24845185:C:T 2709_1934_645_T->M 0.00439297 214 chr14:24845229:C:T 2709_1978_660_R->W 0.000199681 214 chr14:24845260:A:G 2709_2009_670_N->S 0.000199681 214 chr14:24845266:G:A 2709_2015_672_R->Q 0.000199681 214 chr14:24845530:C:T 2709_2087_696_S->L 0.000399361 214 chr14:24845584:A:G 2709_2141_714_D->G 0.00159744 214 chr14:24845605:C:T 2709_2162_721_P->L 0.000199681 214 chr14:24845662:G:T 2709_2219_740_G->V 0.000199681 214 chr14:24845667:G:A 2709_2224_742_G->S 0.000399361 214 chr14:24845686:T:C 2709_2243_748_L->P 0.000599042 214 chr14:24845722:C:G 2709_2279_760_P->R 0.000199681 214 chr14:24845731:G:A 2709_2288_763_R->Q 0.000199681 214 chr14:24845735:G:T 2709_2292_764_M->I 0.000199681 214 chr14:24845804:C:A 2709_2361_787_F->L 0.000199681 214 chr14:24845830:G:A 2709_2387_796_G->D 0.000199681 214 chr14:24845841:T:C 2709_2398_800_S->P 0.358027 214 chr14:24845858:C:G 2709_2415_805_F->L 0.000199681 214 na12878 Variants: 214 chr14:24839083:G:C 2709_479_160_G->A 214 snyder Variants: 214 chr14:24839083:G:C 2709_479_160_G->A 215 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000553708 gene_Name: NFAC4_HUMAN 215 list of pdbs: 215 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 215 Zimmer Variants: 215 chr14:24839083:G:C 2706_479_160_G->A 215 HGMD Variants: 215 chr14:24839083:G:C 2706_479_160_G->A 215 oneKG Variants: 215 chr14:24838818:C:A 2706_214_72_H->N 0.000199681 215 chr14:24838891:G:A 2706_287_96_G->E 0.000199681 215 chr14:24838935:C:T 2706_331_111_L->F 0.000399361 215 chr14:24838978:C:T 2706_374_125_P->L 0.000199681 215 chr14:24839025:G:C 2706_421_141_G->R 0.000199681 215 chr14:24839067:T:C 2706_463_155_Y->H 0.000399361 215 chr14:24839083:G:C 2706_479_160_G->A 0.280351 215 chr14:24839281:C:A 2706_677_226_T->N 0.00219649 215 chr14:24839292:C:T 2706_688_230_P->S 0.000199681 215 chr14:24839341:G:A 2706_737_246_S->N 0.00279553 215 chr14:24839373:C:T 2706_769_257_P->S 0.000199681 215 chr14:24839499:C:T 2706_895_299_P->S 0.000199681 215 chr14:24839524:G:A 2706_920_307_R->Q 0.000199681 215 chr14:24839569:C:T 2706_965_322_P->L 0.000199681 215 chr14:24839757:G:A 2706_1153_385_A->T 0.000199681 215 chr14:24841695:G:C 2706_1245_415_E->D 0.000199681 215 chr14:24841717:G:A 2706_1267_423_V->I 0.00179712 215 chr14:24841801:G:A 2706_1351_451_V->I 0.000199681 215 chr14:24842377:C:G 2706_1360_454_L->V 0.000199681 215 chr14:24842498:C:T 2706_1481_494_T->M 0.000199681 215 chr14:24842563:A:C 2706_1546_516_N->H 0.000798722 215 chr14:24843575:C:A 2706_1776_592_S->R 0.000199681 215 chr14:24843603:G:A 2706_1804_602_E->K 0.00139776 215 chr14:24843658:T:C 2706_1859_620_I->T 0.000199681 215 chr14:24843664:G:A 2706_1865_622_R->K 0.000199681 215 chr14:24845185:C:T 2706_1934_645_T->M 0.00439297 215 chr14:24845229:C:T 2706_1978_660_R->W 0.000199681 215 chr14:24845260:A:G 2706_2009_670_N->S 0.000199681 215 chr14:24845266:G:A 2706_2015_672_R->Q 0.000199681 215 chr14:24845530:C:T 2706_2087_696_S->L 0.000399361 215 chr14:24845584:A:G 2706_2141_714_D->G 0.00159744 215 chr14:24845605:C:T 2706_2162_721_P->L 0.000199681 215 chr14:24845662:G:T 2706_2219_740_G->V 0.000199681 215 chr14:24845667:G:A 2706_2224_742_G->S 0.000399361 215 chr14:24845686:T:C 2706_2243_748_L->P 0.000599042 215 chr14:24845722:C:G 2706_2279_760_P->R 0.000199681 215 chr14:24845731:G:A 2706_2288_763_R->Q 0.000199681 215 chr14:24845735:G:T 2706_2292_764_M->I 0.000199681 215 chr14:24845804:C:A 2706_2361_787_F->L 0.000199681 215 chr14:24845830:G:A 2706_2387_796_G->D 0.000199681 215 chr14:24845841:T:C 2706_2398_800_S->P 0.358027 215 chr14:24845858:C:G 2706_2415_805_F->L 0.000199681 215 na12878 Variants: 215 chr14:24839083:G:C 2706_479_160_G->A 215 snyder Variants: 215 chr14:24839083:G:C 2706_479_160_G->A 216 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000553879 gene_Name: NFAC4_HUMAN 216 list of pdbs: 216 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 216 Zimmer Variants: 216 chr14:24839083:G:C 2499_269_90_G->A 216 HGMD Variants: 216 chr14:24839083:G:C 2499_269_90_G->A 216 oneKG Variants: 216 chr14:24838818:C:A 2499_4_2_H->N 0.000199681 216 chr14:24838891:G:A 2499_77_26_G->E 0.000199681 216 chr14:24838935:C:T 2499_121_41_L->F 0.000399361 216 chr14:24838978:C:T 2499_164_55_P->L 0.000199681 216 chr14:24839025:G:C 2499_211_71_G->R 0.000199681 216 chr14:24839067:T:C 2499_253_85_Y->H 0.000399361 216 chr14:24839083:G:C 2499_269_90_G->A 0.280351 216 chr14:24839281:C:A 2499_467_156_T->N 0.00219649 216 chr14:24839292:C:T 2499_478_160_P->S 0.000199681 216 chr14:24839341:G:A 2499_527_176_S->N 0.00279553 216 chr14:24839373:C:T 2499_559_187_P->S 0.000199681 216 chr14:24839499:C:T 2499_685_229_P->S 0.000199681 216 chr14:24839524:G:A 2499_710_237_R->Q 0.000199681 216 chr14:24839569:C:T 2499_755_252_P->L 0.000199681 216 chr14:24839757:G:A 2499_943_315_A->T 0.000199681 216 chr14:24841695:G:C 2499_1035_345_E->D 0.000199681 216 chr14:24841717:G:A 2499_1057_353_V->I 0.00179712 216 chr14:24841801:G:A 2499_1141_381_V->I 0.000199681 216 chr14:24842377:C:G 2499_1150_384_L->V 0.000199681 216 chr14:24842498:C:T 2499_1271_424_T->M 0.000199681 216 chr14:24842563:A:C 2499_1336_446_N->H 0.000798722 216 chr14:24843575:C:A 2499_1566_522_S->R 0.000199681 216 chr14:24843603:G:A 2499_1594_532_E->K 0.00139776 216 chr14:24843658:T:C 2499_1649_550_I->T 0.000199681 216 chr14:24843664:G:A 2499_1655_552_R->K 0.000199681 216 chr14:24845185:C:T 2499_1724_575_T->M 0.00439297 216 chr14:24845229:C:T 2499_1768_590_R->W 0.000199681 216 chr14:24845260:A:G 2499_1799_600_N->S 0.000199681 216 chr14:24845266:G:A 2499_1805_602_R->Q 0.000199681 216 chr14:24845530:C:T 2499_1877_626_S->L 0.000399361 216 chr14:24845584:A:G 2499_1931_644_D->G 0.00159744 216 chr14:24845605:C:T 2499_1952_651_P->L 0.000199681 216 chr14:24845662:G:T 2499_2009_670_G->V 0.000199681 216 chr14:24845667:G:A 2499_2014_672_G->S 0.000399361 216 chr14:24845686:T:C 2499_2033_678_L->P 0.000599042 216 chr14:24845722:C:G 2499_2069_690_P->R 0.000199681 216 chr14:24845731:G:A 2499_2078_693_R->Q 0.000199681 216 chr14:24845735:G:T 2499_2082_694_M->I 0.000199681 216 chr14:24845804:C:A 2499_2151_717_F->L 0.000199681 216 chr14:24845830:G:A 2499_2177_726_G->D 0.000199681 216 chr14:24845841:T:C 2499_2188_730_S->P 0.358027 216 chr14:24845858:C:G 2499_2205_735_F->L 0.000199681 216 na12878 Variants: 216 chr14:24839083:G:C 2499_269_90_G->A 216 snyder Variants: 216 chr14:24839083:G:C 2499_269_90_G->A 217 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000554344 gene_Name: NFAC4_HUMAN 217 list of pdbs: 217 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 217 Zimmer Variants: 217 chr14:24839083:G:C 2499_269_90_G->A 217 HGMD Variants: 217 chr14:24839083:G:C 2499_269_90_G->A 217 oneKG Variants: 217 chr14:24838818:C:A 2499_4_2_H->N 0.000199681 217 chr14:24838891:G:A 2499_77_26_G->E 0.000199681 217 chr14:24838935:C:T 2499_121_41_L->F 0.000399361 217 chr14:24838978:C:T 2499_164_55_P->L 0.000199681 217 chr14:24839025:G:C 2499_211_71_G->R 0.000199681 217 chr14:24839067:T:C 2499_253_85_Y->H 0.000399361 217 chr14:24839083:G:C 2499_269_90_G->A 0.280351 217 chr14:24839281:C:A 2499_467_156_T->N 0.00219649 217 chr14:24839292:C:T 2499_478_160_P->S 0.000199681 217 chr14:24839341:G:A 2499_527_176_S->N 0.00279553 217 chr14:24839373:C:T 2499_559_187_P->S 0.000199681 217 chr14:24839499:C:T 2499_685_229_P->S 0.000199681 217 chr14:24839524:G:A 2499_710_237_R->Q 0.000199681 217 chr14:24839569:C:T 2499_755_252_P->L 0.000199681 217 chr14:24839757:G:A 2499_943_315_A->T 0.000199681 217 chr14:24841695:G:C 2499_1035_345_E->D 0.000199681 217 chr14:24841717:G:A 2499_1057_353_V->I 0.00179712 217 chr14:24841801:G:A 2499_1141_381_V->I 0.000199681 217 chr14:24842377:C:G 2499_1150_384_L->V 0.000199681 217 chr14:24842498:C:T 2499_1271_424_T->M 0.000199681 217 chr14:24842563:A:C 2499_1336_446_N->H 0.000798722 217 chr14:24843575:C:A 2499_1566_522_S->R 0.000199681 217 chr14:24843603:G:A 2499_1594_532_E->K 0.00139776 217 chr14:24843658:T:C 2499_1649_550_I->T 0.000199681 217 chr14:24843664:G:A 2499_1655_552_R->K 0.000199681 217 chr14:24845185:C:T 2499_1724_575_T->M 0.00439297 217 chr14:24845229:C:T 2499_1768_590_R->W 0.000199681 217 chr14:24845260:A:G 2499_1799_600_N->S 0.000199681 217 chr14:24845266:G:A 2499_1805_602_R->Q 0.000199681 217 chr14:24845530:C:T 2499_1877_626_S->L 0.000399361 217 chr14:24845584:A:G 2499_1931_644_D->G 0.00159744 217 chr14:24845605:C:T 2499_1952_651_P->L 0.000199681 217 chr14:24845662:G:T 2499_2009_670_G->V 0.000199681 217 chr14:24845667:G:A 2499_2014_672_G->S 0.000399361 217 chr14:24845686:T:C 2499_2033_678_L->P 0.000599042 217 chr14:24845722:C:G 2499_2069_690_P->R 0.000199681 217 chr14:24845731:G:A 2499_2078_693_R->Q 0.000199681 217 chr14:24845735:G:T 2499_2082_694_M->I 0.000199681 217 chr14:24845804:C:A 2499_2151_717_F->L 0.000199681 217 chr14:24845830:G:A 2499_2177_726_G->D 0.000199681 217 chr14:24845841:T:C 2499_2188_730_S->P 0.358027 217 chr14:24845858:C:G 2499_2205_735_F->L 0.000199681 217 na12878 Variants: 217 chr14:24839083:G:C 2499_269_90_G->A 217 snyder Variants: 217 chr14:24839083:G:C 2499_269_90_G->A 218 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000554661 gene_Name: NFAC4_HUMAN 218 list of pdbs: 218 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 218 Zimmer Variants: 218 chr14:24839083:G:C 2175_269_90_G->A 218 HGMD Variants: 218 chr14:24839083:G:C 2175_269_90_G->A 218 oneKG Variants: 218 chr14:24838818:C:A 2175_4_2_H->N 0.000199681 218 chr14:24838891:G:A 2175_77_26_G->E 0.000199681 218 chr14:24838935:C:T 2175_121_41_L->F 0.000399361 218 chr14:24838978:C:T 2175_164_55_P->L 0.000199681 218 chr14:24839025:G:C 2175_211_71_G->R 0.000199681 218 chr14:24839067:T:C 2175_253_85_Y->H 0.000399361 218 chr14:24839083:G:C 2175_269_90_G->A 0.280351 218 chr14:24839281:C:A 2175_467_156_T->N 0.00219649 218 chr14:24839292:C:T 2175_478_160_P->S 0.000199681 218 chr14:24839341:G:A 2175_527_176_S->N 0.00279553 218 chr14:24839373:C:T 2175_559_187_P->S 0.000199681 218 chr14:24839499:C:T 2175_685_229_P->S 0.000199681 218 chr14:24839524:G:A 2175_710_237_R->Q 0.000199681 218 chr14:24839569:C:T 2175_755_252_P->L 0.000199681 218 chr14:24839757:G:A 2175_943_315_A->T 0.000199681 218 chr14:24841695:G:C 2175_1035_345_E->D 0.000199681 218 chr14:24841717:G:A 2175_1057_353_V->I 0.00179712 218 chr14:24841801:G:A 2175_1141_381_V->I 0.000199681 218 chr14:24842377:C:G 2175_1150_384_L->V 0.000199681 218 chr14:24842498:C:T 2175_1271_424_T->M 0.000199681 218 chr14:24842563:A:C 2175_1336_446_N->H 0.000798722 218 chr14:24843575:C:A 2175_1566_522_S->R 0.000199681 218 chr14:24843603:G:A 2175_1594_532_E->K 0.00139776 218 chr14:24843658:T:C 2175_1649_550_I->T 0.000199681 218 chr14:24843664:G:A 2175_1655_552_R->K 0.000199681 218 chr14:24845185:C:T 2175_1724_575_T->M 0.00439297 218 chr14:24845229:C:T 2175_1768_590_R->W 0.000199681 218 chr14:24845260:A:G 2175_1799_600_N->S 0.000199681 218 chr14:24845266:G:A 2175_1805_602_R->Q 0.000199681 218 chr14:24845530:C:T 2175_1877_626_S->L 0.000399361 218 chr14:24845584:A:G 2175_1931_644_D->G 0.00159744 218 chr14:24845605:C:T 2175_1952_651_P->L 0.000199681 218 chr14:24845662:G:T 2175_2009_670_G->V 0.000199681 218 chr14:24845667:G:A 2175_2014_672_G->S 0.000399361 218 chr14:24845686:T:C 2175_2033_678_L->P 0.000599042 218 chr14:24845722:C:G 2175_2069_690_P->R 0.000199681 218 chr14:24845731:G:A 2175_2078_693_R->Q 0.000199681 218 chr14:24845735:G:T 2175_2082_694_M->I 0.000199681 218 na12878 Variants: 218 chr14:24839083:G:C 2175_269_90_G->A 218 snyder Variants: 218 chr14:24839083:G:C 2175_269_90_G->A 219 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000556169 gene_Name: NFAC4_HUMAN 219 list of pdbs: 219 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 219 Zimmer Variants: 219 chr14:24839083:G:C 2349_443_148_G->A 219 HGMD Variants: 219 chr14:24839083:G:C 2349_443_148_G->A 219 oneKG Variants: 219 chr14:24838546:C:T 2349_28_10_P->S 0.000599042 219 chr14:24838555:A:C 2349_37_13_T->P 0.000199681 219 chr14:24838818:C:A 2349_178_60_H->N 0.000199681 219 chr14:24838891:G:A 2349_251_84_G->E 0.000199681 219 chr14:24838935:C:T 2349_295_99_L->F 0.000399361 219 chr14:24838978:C:T 2349_338_113_P->L 0.000199681 219 chr14:24839025:G:C 2349_385_129_G->R 0.000199681 219 chr14:24839067:T:C 2349_427_143_Y->H 0.000399361 219 chr14:24839083:G:C 2349_443_148_G->A 0.280351 219 chr14:24839281:C:A 2349_641_214_T->N 0.00219649 219 chr14:24839292:C:T 2349_652_218_P->S 0.000199681 219 chr14:24839341:G:A 2349_701_234_S->N 0.00279553 219 chr14:24839373:C:T 2349_733_245_P->S 0.000199681 219 chr14:24839499:C:T 2349_859_287_P->S 0.000199681 219 chr14:24839524:G:A 2349_884_295_R->Q 0.000199681 219 chr14:24839569:C:T 2349_929_310_P->L 0.000199681 219 chr14:24839757:G:A 2349_1117_373_A->T 0.000199681 219 chr14:24841695:G:C 2349_1209_403_E->D 0.000199681 219 chr14:24841717:G:A 2349_1231_411_V->I 0.00179712 219 chr14:24841801:G:A 2349_1315_439_V->I 0.000199681 219 chr14:24842377:C:G 2349_1324_442_L->V 0.000199681 219 chr14:24842498:C:T 2349_1445_482_T->M 0.000199681 219 chr14:24842563:A:C 2349_1510_504_N->H 0.000798722 219 chr14:24843575:C:A 2349_1740_580_S->R 0.000199681 219 chr14:24843603:G:A 2349_1768_590_E->K 0.00139776 219 chr14:24843658:T:C 2349_1823_608_I->T 0.000199681 219 chr14:24843664:G:A 2349_1829_610_R->K 0.000199681 219 chr14:24845185:C:T 2349_1898_633_T->M 0.00439297 219 chr14:24845229:C:T 2349_1942_648_R->W 0.000199681 219 chr14:24845260:A:G 2349_1973_658_N->S 0.000199681 219 chr14:24845266:G:A 2349_1979_660_R->Q 0.000199681 219 chr14:24845530:C:T 2349_2051_684_S->L 0.000399361 219 chr14:24845584:A:G 2349_2105_702_D->G 0.00159744 219 chr14:24845605:C:T 2349_2126_709_P->L 0.000199681 219 chr14:24845662:G:T 2349_2183_728_G->V 0.000199681 219 chr14:24845667:G:A 2349_2188_730_G->S 0.000399361 219 chr14:24845686:T:C 2349_2207_736_L->P 0.000599042 219 chr14:24845722:C:G 2349_2243_748_P->R 0.000199681 219 chr14:24845731:G:A 2349_2252_751_R->Q 0.000199681 219 chr14:24845735:G:T 2349_2256_752_M->I 0.000199681 219 na12878 Variants: 219 chr14:24839083:G:C 2349_443_148_G->A 219 snyder Variants: 219 chr14:24839083:G:C 2349_443_148_G->A 220 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000557451 gene_Name: NFAC4_HUMAN 220 list of pdbs: 220 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 220 Zimmer Variants: 220 chr14:24839083:G:C 2496_269_90_G->A;HUB=PHOS®GNEG=Yes;GENE=NFATC4;CDSS=3 220 HGMD Variants: 220 chr14:24839083:G:C 2496_269_90_G->A 220 oneKG Variants: 220 chr14:24838818:C:A 2496_4_2_H->N 0.000199681 220 chr14:24838891:G:A 2496_77_26_G->E 0.000199681 220 chr14:24838935:C:T 2496_121_41_L->F 0.000399361 220 chr14:24838978:C:T 2496_164_55_P->L 0.000199681 220 chr14:24839025:G:C 2496_211_71_G->R 0.000199681 220 chr14:24839067:T:C 2496_253_85_Y->H 0.000399361 220 chr14:24839083:G:C 2496_269_90_G->A 0.280351 220 chr14:24839281:C:A 2496_467_156_T->N 0.00219649 220 chr14:24839292:C:T 2496_478_160_P->S 0.000199681 220 chr14:24839341:G:A 2496_527_176_S->N 0.00279553 220 chr14:24839373:C:T 2496_559_187_P->S 0.000199681 220 chr14:24839499:C:T 2496_685_229_P->S 0.000199681 220 chr14:24839524:G:A 2496_710_237_R->Q 0.000199681 220 chr14:24839569:C:T 2496_755_252_P->L 0.000199681 220 chr14:24839757:G:A 2496_943_315_A->T 0.000199681 220 chr14:24841695:G:C 2496_1035_345_E->D 0.000199681 220 chr14:24841717:G:A 2496_1057_353_V->I 0.00179712 220 chr14:24841801:G:A 2496_1141_381_V->I 0.000199681 220 chr14:24842377:C:G 2496_1150_384_L->V 0.000199681 220 chr14:24842498:C:T 2496_1271_424_T->M 0.000199681 220 chr14:24842563:A:C 2496_1336_446_N->H 0.000798722 220 chr14:24843575:C:A 2496_1566_522_S->R 0.000199681 220 chr14:24843603:G:A 2496_1594_532_E->K 0.00139776 220 chr14:24843658:T:C 2496_1649_550_I->T 0.000199681 220 chr14:24843664:G:A 2496_1655_552_R->K 0.000199681 220 chr14:24845185:C:T 2496_1724_575_T->M 0.00439297 220 chr14:24845229:C:T 2496_1768_590_R->W 0.000199681 220 chr14:24845260:A:G 2496_1799_600_N->S 0.000199681 220 chr14:24845266:G:A 2496_1805_602_R->Q 0.000199681 220 chr14:24845530:C:T 2496_1877_626_S->L 0.000399361 220 chr14:24845584:A:G 2496_1931_644_D->G 0.00159744 220 chr14:24845605:C:T 2496_1952_651_P->L 0.000199681 220 chr14:24845662:G:T 2496_2009_670_G->V 0.000199681 220 chr14:24845667:G:A 2496_2014_672_G->S 0.000399361 220 chr14:24845686:T:C 2496_2033_678_L->P 0.000599042 220 chr14:24845722:C:G 2496_2069_690_P->R 0.000199681 220 chr14:24845731:G:A 2496_2078_693_R->Q 0.000199681 220 chr14:24845735:G:T 2496_2082_694_M->I 0.000199681 220 chr14:24845804:C:A 2496_2151_717_F->L 0.000199681 220 chr14:24845830:G:A 2496_2177_726_G->D 0.000199681 220 chr14:24845841:T:C 2496_2188_730_S->P 0.358027 220 chr14:24845858:C:G 2496_2205_735_F->L 0.000199681 220 na12878 Variants: 220 chr14:24839083:G:C 2496_269_90_G->A 220 snyder Variants: 220 chr14:24839083:G:C 2496_269_90_G->A 221 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000422617 gene_Name: NFAC4_HUMAN 221 list of pdbs: 221 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 221 Zimmer Variants: 221 chr14:24839083:G:C 2670_443_148_G->A 221 HGMD Variants: 221 chr14:24839083:G:C 2670_443_148_G->A 221 oneKG Variants: 221 chr14:24838546:C:T 2670_28_10_P->S 0.000599042 221 chr14:24838555:A:C 2670_37_13_T->P 0.000199681 221 chr14:24838818:C:A 2670_178_60_H->N 0.000199681 221 chr14:24838891:G:A 2670_251_84_G->E 0.000199681 221 chr14:24838935:C:T 2670_295_99_L->F 0.000399361 221 chr14:24838978:C:T 2670_338_113_P->L 0.000199681 221 chr14:24839025:G:C 2670_385_129_G->R 0.000199681 221 chr14:24839067:T:C 2670_427_143_Y->H 0.000399361 221 chr14:24839083:G:C 2670_443_148_G->A 0.280351 221 chr14:24839281:C:A 2670_641_214_T->N 0.00219649 221 chr14:24839292:C:T 2670_652_218_P->S 0.000199681 221 chr14:24839341:G:A 2670_701_234_S->N 0.00279553 221 chr14:24839373:C:T 2670_733_245_P->S 0.000199681 221 chr14:24839499:C:T 2670_859_287_P->S 0.000199681 221 chr14:24839524:G:A 2670_884_295_R->Q 0.000199681 221 chr14:24839569:C:T 2670_929_310_P->L 0.000199681 221 chr14:24839757:G:A 2670_1117_373_A->T 0.000199681 221 chr14:24841695:G:C 2670_1209_403_E->D 0.000199681 221 chr14:24841717:G:A 2670_1231_411_V->I 0.00179712 221 chr14:24841801:G:A 2670_1315_439_V->I 0.000199681 221 chr14:24842377:C:G 2670_1324_442_L->V 0.000199681 221 chr14:24842498:C:T 2670_1445_482_T->M 0.000199681 221 chr14:24842563:A:C 2670_1510_504_N->H 0.000798722 221 chr14:24843575:C:A 2670_1740_580_S->R 0.000199681 221 chr14:24843603:G:A 2670_1768_590_E->K 0.00139776 221 chr14:24843658:T:C 2670_1823_608_I->T 0.000199681 221 chr14:24843664:G:A 2670_1829_610_R->K 0.000199681 221 chr14:24845185:C:T 2670_1898_633_T->M 0.00439297 221 chr14:24845229:C:T 2670_1942_648_R->W 0.000199681 221 chr14:24845260:A:G 2670_1973_658_N->S 0.000199681 221 chr14:24845266:G:A 2670_1979_660_R->Q 0.000199681 221 chr14:24845530:C:T 2670_2051_684_S->L 0.000399361 221 chr14:24845584:A:G 2670_2105_702_D->G 0.00159744 221 chr14:24845605:C:T 2670_2126_709_P->L 0.000199681 221 chr14:24845662:G:T 2670_2183_728_G->V 0.000199681 221 chr14:24845667:G:A 2670_2188_730_G->S 0.000399361 221 chr14:24845686:T:C 2670_2207_736_L->P 0.000599042 221 chr14:24845722:C:G 2670_2243_748_P->R 0.000199681 221 chr14:24845731:G:A 2670_2252_751_R->Q 0.000199681 221 chr14:24845735:G:T 2670_2256_752_M->I 0.000199681 221 chr14:24845804:C:A 2670_2325_775_F->L 0.000199681 221 chr14:24845830:G:A 2670_2351_784_G->D 0.000199681 221 chr14:24845841:T:C 2670_2362_788_S->P 0.358027 221 chr14:24845858:C:G 2670_2379_793_F->L 0.000199681 221 na12878 Variants: 221 chr14:24839083:G:C 2670_443_148_G->A 221 snyder Variants: 221 chr14:24839083:G:C 2670_443_148_G->A 222 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100968_ENST00000555453 gene_Name: NFAC4_HUMAN 222 list of pdbs: 222 2YRP pdb_description: 12-Feb-08 NMR 20 Solution structure of the tig domain from human nuclear factor of activated t-cells, cytoplasmic 4 222 Zimmer Variants: 222 chr14:24839083:G:C 2673_443_148_G->A 222 HGMD Variants: 222 chr14:24839083:G:C 2673_443_148_G->A 222 oneKG Variants: 222 chr14:24838546:C:T 2673_28_10_P->S 0.000599042 222 chr14:24838555:A:C 2673_37_13_T->P 0.000199681 222 chr14:24838818:C:A 2673_178_60_H->N 0.000199681 222 chr14:24838891:G:A 2673_251_84_G->E 0.000199681 222 chr14:24838935:C:T 2673_295_99_L->F 0.000399361 222 chr14:24838978:C:T 2673_338_113_P->L 0.000199681 222 chr14:24839025:G:C 2673_385_129_G->R 0.000199681 222 chr14:24839067:T:C 2673_427_143_Y->H 0.000399361 222 chr14:24839083:G:C 2673_443_148_G->A 0.280351 222 chr14:24839281:C:A 2673_641_214_T->N 0.00219649 222 chr14:24839292:C:T 2673_652_218_P->S 0.000199681 222 chr14:24839341:G:A 2673_701_234_S->N 0.00279553 222 chr14:24839373:C:T 2673_733_245_P->S 0.000199681 222 chr14:24839499:C:T 2673_859_287_P->S 0.000199681 222 chr14:24839524:G:A 2673_884_295_R->Q 0.000199681 222 chr14:24839569:C:T 2673_929_310_P->L 0.000199681 222 chr14:24839757:G:A 2673_1117_373_A->T 0.000199681 222 chr14:24841695:G:C 2673_1209_403_E->D 0.000199681 222 chr14:24841717:G:A 2673_1231_411_V->I 0.00179712 222 chr14:24841801:G:A 2673_1315_439_V->I 0.000199681 222 chr14:24842377:C:G 2673_1324_442_L->V 0.000199681 222 chr14:24842498:C:T 2673_1445_482_T->M 0.000199681 222 chr14:24842563:A:C 2673_1510_504_N->H 0.000798722 222 chr14:24843575:C:A 2673_1740_580_S->R 0.000199681 222 chr14:24843603:G:A 2673_1768_590_E->K 0.00139776 222 chr14:24843658:T:C 2673_1823_608_I->T 0.000199681 222 chr14:24843664:G:A 2673_1829_610_R->K 0.000199681 222 chr14:24845185:C:T 2673_1898_633_T->M 0.00439297 222 chr14:24845229:C:T 2673_1942_648_R->W 0.000199681 222 chr14:24845260:A:G 2673_1973_658_N->S 0.000199681 222 chr14:24845266:G:A 2673_1979_660_R->Q 0.000199681 222 chr14:24845530:C:T 2673_2051_684_S->L 0.000399361 222 chr14:24845584:A:G 2673_2105_702_D->G 0.00159744 222 chr14:24845605:C:T 2673_2126_709_P->L 0.000199681 222 chr14:24845662:G:T 2673_2183_728_G->V 0.000199681 222 chr14:24845667:G:A 2673_2188_730_G->S 0.000399361 222 chr14:24845686:T:C 2673_2207_736_L->P 0.000599042 222 chr14:24845722:C:G 2673_2243_748_P->R 0.000199681 222 chr14:24845731:G:A 2673_2252_751_R->Q 0.000199681 222 chr14:24845735:G:T 2673_2256_752_M->I 0.000199681 222 chr14:24845804:C:A 2673_2325_775_F->L 0.000199681 222 chr14:24845830:G:A 2673_2351_784_G->D 0.000199681 222 chr14:24845841:T:C 2673_2362_788_S->P 0.358027 222 chr14:24845858:C:G 2673_2379_793_F->L 0.000199681 222 na12878 Variants: 222 chr14:24839083:G:C 2673_443_148_G->A 222 snyder Variants: 222 chr14:24839083:G:C 2673_443_148_G->A 223 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100445_ENST00000399395 gene_Name: D39U1_HUMAN 223 list of pdbs: 223 4B4O pdb_description: 29-Aug-12 X-ray 2.700 Crystal structure of human epimerase family protein sdr39u1 (isoform2) with NADPH 223 Zimmer Variants: 223 chr14:24909362:T:C 882_809_270_Q->R 223 chr14:24909475:C:G 882_696_232_L->F 223 HGMD Variants: 223 chr14:24909513:G:A 882_658_220_P->S 223 oneKG Variants: 223 chr14:24909363:G:A 882_808_270_Q->* 0.000599042 223 chr14:24909408:G:A 882_763_255_R->* 0.000399361 223 chr14:24909305:T:C 882_866_289_K->R 0.00219649 223 chr14:24909345:C:T 882_826_276_G->S 0.000199681 223 chr14:24909359:C:G 882_812_271_R->P 0.000798722 223 chr14:24909362:T:C 882_809_270_Q->R 0.234824 223 chr14:24909402:G:A 882_769_257_R->C 0.000399361 223 chr14:24909458:C:T 882_713_238_R->H 0.000599042 223 chr14:24909474:C:T 882_697_233_G->S 0.000399361 223 chr14:24909475:C:G 882_696_232_L->F 0.234824 223 chr14:24909585:C:T 882_586_196_G->R 0.000199681 223 chr14:24909588:T:C 882_583_195_I->V 0.000998403 223 chr14:24909621:C:G 882_550_184_G->R 0.000199681 223 chr14:24909624:T:C 882_547_183_I->V 0.000199681 223 chr14:24909629:C:A 882_542_181_G->V 0.0505192 223 chr14:24909683:C:T 882_488_163_R->H 0.000199681 223 chr14:24910055:C:T 882_406_136_V->I 0.00159744 223 chr14:24910076:A:T 882_385_129_F->I 0.00479233 223 chr14:24910124:G:T 882_337_113_Q->K 0.000199681 223 chr14:24910964:G:A 882_244_82_R->C 0.000599042 223 chr14:24910973:T:G 882_235_79_I->L 0.234824 223 chr14:24911433:C:G 882_157_53_D->H,1 0.000199681 223 chr14:24911613:T:A 882_62_21_N->I 0.000199681 223 chr14:24911640:A:G 882_35_12_I->T 0.000199681 223 chr14:24911966:G:A 882_10_4_L->F 0.000199681 223 chr14:24911969:C:A 882_7_3_V->L 0.000199681 223 na12878 Variants: 223 chr14:24909362:T:C 882_809_270_Q->R 223 chr14:24909475:C:G 882_696_232_L->F 223 snyder Variants: 223 chr14:24909362:T:C 882_809_270_Q->R 223 chr14:24909475:C:G 882_696_232_L->F 224 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100445_ENST00000399390 gene_Name: D39U1_HUMAN 224 list of pdbs: 224 4B4O pdb_description: 29-Aug-12 X-ray 2.700 Crystal structure of human epimerase family protein sdr39u1 (isoform2) with NADPH 224 Zimmer Variants: 224 chr14:24909362:T:C 597_524_175_Q->R 224 chr14:24909475:C:G 597_411_137_L->F 224 HGMD Variants: 224 chr14:24909513:G:A 597_373_125_P->S 224 oneKG Variants: 224 chr14:24909363:G:A 597_523_175_Q->* 0.000599042 224 chr14:24909408:G:A 597_478_160_R->* 0.000399361 224 chr14:24909305:T:C 597_581_194_K->R 0.00219649 224 chr14:24909345:C:T 597_541_181_G->S 0.000199681 224 chr14:24909359:C:G 597_527_176_R->P 0.000798722 224 chr14:24909362:T:C 597_524_175_Q->R 0.234824 224 chr14:24909402:G:A 597_484_162_R->C 0.000399361 224 chr14:24909458:C:T 597_428_143_R->H 0.000599042 224 chr14:24909474:C:T 597_412_138_G->S 0.000399361 224 chr14:24909475:C:G 597_411_137_L->F 0.234824 224 chr14:24909585:C:T 597_301_101_G->R 0.000199681 224 chr14:24909588:T:C 597_298_100_I->V 0.000998403 224 chr14:24909621:C:G 597_265_89_G->R 0.000199681 224 chr14:24909624:T:C 597_262_88_I->V 0.000199681 224 chr14:24909629:C:A 597_257_86_G->V 0.0505192 224 chr14:24909683:C:T 597_203_68_R->H 0.000199681 224 chr14:24910055:C:T 597_121_41_V->I 0.00159744 224 chr14:24910076:A:T 597_100_34_F->I 0.00479233 224 chr14:24910124:G:T 597_52_18_Q->K 0.000199681 224 na12878 Variants: 224 chr14:24909362:T:C 597_524_175_Q->R 224 chr14:24909475:C:G 597_411_137_L->F 224 snyder Variants: 224 chr14:24909362:T:C 597_524_175_Q->R 224 chr14:24909475:C:G 597_411_137_L->F 225 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100934_ENST00000307712 gene_Name: SC23A_HUMAN 225 list of pdbs: 225 3EFO pdb_description: 21-Oct-08 X-ray 2.700 Crystal structure of the mammalian copii-coat protein sec23/ to the transport signal sequence of syntaxin 5 225 2YRD pdb_description: 02-Oct-07 NMR 20 Solution structure of the zf-sec23_sec24 from human sec23a mutant v69a 225 2YRC pdb_description: 02-Oct-07 NMR 20 Solution structure of the zf-sec23_sec24 from human sec23a 225 3EGD pdb_description: 21-Oct-08 X-ray 2.700 Crystal structure of the mammalian copii-coat protein sec23a complexed with the snare protein sec22 and bound to the tra signal sequence of vesicular stomatitis virus glycoprotein 225 2NUT pdb_description: 22-May-07 X-ray 2.300 Crystal structure of the human sec23a/24a heterodimer, complexed with the snare protein sec22b 225 2NUP pdb_description: 22-May-07 X-ray 2.800 Crystal structure of the human sec23a/24a heterodimer, complexed with the snare protein sec22b 225 3EG9 pdb_description: 21-Oct-08 X-ray 3.000 Crystal structure of the mammalian copii-coat protein sec23/ to the transport signal sequence of membrin 225 3EGX pdb_description: 21-Oct-08 X-ray 3.300 Crystal structure of the mammalian copii-coat protein sec23a complexed with the snare protein sec22b and bound to the tr signal sequence of the snare protein bet1 225 Zimmer Variants: 225 chr14:39556185:G:C 2298_631_211_L->V 225 HGMD Variants: 225 chr14:39509974:T:C 2298_2104_702_M->V 225 chr14:39536460:A:G 2298_1144_382_F->L 225 chr14:39545251:C:T 2298_875_292_G->D 225 oneKG Variants: 225 chr14:39509974:T:C 2298_2104_702_M->V 0.000199681 225 chr14:39512040:G:A 2298_1936_646_R->C 0.000199681 225 chr14:39514523:C:T 2298_1743_581_M->I 0.000199681 225 chr14:39517877:T:G 2298_1716_572_E->D 0.000199681 225 chr14:39524485:T:A 2298_1521_507_Q->H 0.0 225 chr14:39531020:T:C 2298_1454_485_Y->C 0.000199681 225 chr14:39531059:G:A 2298_1415_472_P->L 0.000199681 225 chr14:39536471:T:G 2298_1133_378_N->T 0.000199681 225 chr14:39545239:T:C 2298_887_296_Q->R 0.000199681 225 chr14:39545269:A:G 2298_857_286_I->T 0.000199681 225 chr14:39555082:T:C 2298_712_238_M->V 0.000199681 225 chr14:39555106:A:C 2298_688_230_L->V 0.000199681 225 chr14:39556185:G:C 2298_631_211_L->V 0.221246 225 chr14:39560784:A:G 2298_500_167_I->T 0.000199681 225 chr14:39560836:A:G 2298_448_150_S->P 0.000199681 225 chr14:39560886:T:A 2298_398_133_Y->F 0.000199681 225 chr14:39560913:C:A 2298_371_124_G->V 0.000998403 225 chr14:39565105:A:G 2298_218_73_L->S 0.000199681 225 chr14:39565145:G:C 2298_178_60_L->V 0.00279553 225 chr14:39565231:G:C 2298_92_31_A->G 0.000199681 225 na12878 Variants: 225 chr14:39556185:G:C 2298_631_211_L->V 225 snyder Variants: 225 chr14:39556185:G:C 2298_631_211_L->V 226 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000054654_ENST00000358025 gene_Name: SYNE2_HUMAN 226 list of pdbs: 226 4FI9 pdb_description: 18-Jul-12 X-ray 3.050 Structure of human sun-kash complex 226 4DXS pdb_description: 06-Jun-12 X-ray 2.710 Human sun2-kash2 complex 226 Zimmer Variants: 226 chr14:64497930:G:A 20724_7076_2359_S->N;GNEG=Yes;GENE=SYNE2;CDSS=3;DBRECUR=SYNE2 226 chr14:64498037:G:A 20724_7183_2395_A->T;GNEG=Yes;GENE=SYNE2;CDSS=3;DBRECUR=SYNE2 226 chr14:64522674:G:C 20724_9757_3253_D->H;GNEG=Yes;GENE=SYNE2;CDSS=3;DBRECUR=SYNE2 226 chr14:64522843:A:G 20724_9926_3309_H->R;GNEG=Yes;GENE=SYNE2;CDSS=3;DBRECUR=SYNE2 226 chr14:64633984:G:A 20724_16639_5547_D->N 226 chr14:64491695:T:C 20724_5906_1969_M->T;GNEG=Yes;GENE=SYNE2;CDSS=2;DBRECUR=SYNE2 226 chr14:64496749:C:T 20724_6851_2284_A->V;GNEG=Yes;GENE=SYNE2;CDSS=2;DBRECUR=SYNE2 226 chr14:64519035:A:G 20724_8404_2802_S->G;GNEG=Yes;GENE=SYNE2;CDSS=2;DBRECUR=SYNE2 226 chr14:64519455:A:G 20724_8824_2942_I->V;GNEG=Yes;GENE=SYNE2;CDSS=2;DBRECUR=SYNE2 226 chr14:64685212:A:G 20724_19639_6547_I->V 226 HGMD Variants: 226 chr14:64560092:G:A 20724_12002_4001_W->* 226 chr14:64676751:C:T 20724_18632_6211_T->M 226 oneKG Variants: 226 chr14:64537369:C:T 20724_10438_3480_R->* 0.000199681 226 chr14:64560092:G:A 20724_12002_4001_W->* 0.122404 226 chr14:64375888:C:T 20724_22_8_P->S 0.000599042 226 chr14:64375903:C:A 20724_37_13_Q->K 0.000199681 226 chr14:64408451:C:G 20724_180_60_D->E 0.000199681 226 chr14:64408645:A:G 20724_280_94_I->V 0.000399361 226 chr14:64408844:A:G 20724_391_131_I->V 0.000199681 226 chr14:64416564:C:G 20724_430_144_L->V 0.00179712 226 chr14:64416652:C:G 20724_518_173_S->C 0.000199681 226 chr14:64416655:A:G 20724_521_174_K->R 0.000599042 226 chr14:64421439:A:G 20724_593_198_Y->C 0.000199681 226 chr14:64421533:C:G 20724_687_229_D->E 0.000798722 226 chr14:64434503:T:C 20724_1067_356_L->P 0.000199681 226 chr14:64434542:C:T 20724_1106_369_A->V 0.000199681 226 chr14:64443393:A:G 20724_1241_414_Q->R 0.000199681 226 chr14:64443404:C:A 20724_1252_418_Q->K 0.0924521 226 chr14:64444625:C:A 20724_1296_432_S->R 0.0215655 226 chr14:64444651:C:G 20724_1322_441_S->W 0.000199681 226 chr14:64444685:A:C 20724_1356_452_E->D 0.000199681 226 chr14:64444689:C:T 20724_1360_454_H->Y 0.000199681 226 chr14:64445595:T:A 20724_1432_478_F->I 0.000199681 226 chr14:64445610:G:A 20724_1447_483_E->K 0.000998403 226 chr14:64445630:C:G 20724_1467_489_C->W 0.000199681 226 chr14:64447761:T:C 20724_1706_569_M->T 0.000199681 226 chr14:64447776:T:C 20724_1721_574_I->T 0.131989 226 chr14:64447779:A:G 20724_1724_575_Y->C 0.000798722 226 chr14:64447785:T:G 20724_1730_577_V->G 0.000199681 226 chr14:64449363:C:G 20724_1852_618_L->V 0.000399361 226 chr14:64449384:C:T 20724_1873_625_H->Y 0.00219649 226 chr14:64450479:A:G 20724_2026_676_K->E 0.0061901 226 chr14:64450490:T:G 20724_2037_679_D->E 0.000199681 226 chr14:64450507:A:G 20724_2054_685_N->S 0.000599042 226 chr14:64453202:A:C 20724_2180_727_E->A 0.000199681 226 chr14:64453256:A:G 20724_2234_745_Q->R 0.000399361 226 chr14:64453318:A:G 20724_2296_766_M->V 0.000199681 226 chr14:64453322:A:T 20724_2300_767_E->V 0.000199681 226 chr14:64457148:C:G 20724_2333_778_S->C 0.000199681 226 chr14:64457720:G:A 20724_2533_845_D->N 0.000199681 226 chr14:64457747:C:G 20724_2560_854_Q->E 0.00139776 226 chr14:64457805:G:A 20724_2618_873_S->N 0.000199681 226 chr14:64460571:A:G 20724_2665_889_N->D 0.000399361 226 chr14:64460638:T:C 20724_2732_911_I->T 0.000199681 226 chr14:64460668:A:G 20724_2762_921_D->G 0.000199681 226 chr14:64461807:G:T 20724_2827_943_D->Y 0.000399361 226 chr14:64461863:T:G 20724_2883_961_N->K 0.000199681 226 chr14:64461916:A:G 20724_2936_979_H->R 0.000599042 226 chr14:64464101:A:G 20724_3235_1079_T->A 0.000599042 226 chr14:64464960:T:G 20724_3267_1089_F->L 0.000399361 226 chr14:64465019:G:A 20724_3326_1109_S->N 0.00159744 226 chr14:64465642:T:C 20724_3364_1122_Y->H 0.000199681 226 chr14:64465743:A:T 20724_3465_1155_K->N 0.000199681 226 chr14:64467302:C:T 20724_3503_1168_A->V 0.000199681 226 chr14:64467304:C:T 20724_3505_1169_R->C 0.000199681 226 chr14:64467358:A:C 20724_3559_1187_I->L 0.0359425 226 chr14:64467412:G:A 20724_3613_1205_E->K 0.000199681 226 chr14:64468654:T:A 20724_3641_1214_M->K 0.000199681 226 chr14:64468723:C:T 20724_3710_1237_S->L 0.000199681 226 chr14:64468756:G:T 20724_3743_1248_G->V 0.000199681 226 chr14:64468780:G:A 20724_3767_1256_R->H 0.000399361 226 chr14:64469480:C:T 20724_3829_1277_R->C 0.000199681 226 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226 chr14:64628873:C:T 20724_16178_5393_A->V 0.000998403 226 chr14:64628890:G:A 20724_16195_5399_A->T 0.00119808 226 chr14:64630130:A:G 20724_16310_5437_H->R 0.000199681 226 chr14:64630132:G:A 20724_16312_5438_D->N 0.000399361 226 chr14:64630194:A:T 20724_16374_5458_Q->H 0.000599042 226 chr14:64630225:C:A 20724_16405_5469_P->T 0.00139776 226 chr14:64630240:T:A 20724_16420_5474_S->T 0.00339457 226 chr14:64630270:A:T 20724_16450_5484_M->L 0.000199681 226 chr14:64630284:A:T 20724_16464_5488_K->N 0.000199681 226 chr14:64632037:G:A 20724_16514_5505_R->Q 0.000199681 226 chr14:64632045:T:A 20724_16522_5508_S->T 0.00439297 226 chr14:64633964:C:G 20724_16619_5540_A->G 0.000599042 226 chr14:64633984:G:A 20724_16639_5547_D->N 0.00678914 226 chr14:64634045:C:T 20724_16700_5567_T->M 0.000199681 226 chr14:64634063:G:A 20724_16718_5573_R->Q 0.000399361 226 chr14:64634313:G:T 20724_16861_5621_A->S 0.000399361 226 chr14:64634346:A:G 20724_16894_5632_K->E 0.000199681 226 chr14:64635613:T:C 20724_16924_5642_S->P 0.000399361 226 chr14:64635628:A:G 20724_16939_5647_I->V 0.000199681 226 chr14:64635629:T:G 20724_16940_5647_I->S 0.000199681 226 chr14:64635674:C:T 20724_16985_5662_T->I 0.000399361 226 chr14:64636978:C:T 20724_17033_5678_T->M 0.00199681 226 chr14:64636984:G:A 20724_17039_5680_R->Q 0.000199681 226 chr14:64637011:G:A 20724_17066_5689_R->Q 0.000199681 226 chr14:64637121:G:T 20724_17176_5726_V->L 0.000199681 226 chr14:64637154:A:C 20724_17209_5737_T->P 0.000199681 226 chr14:64641774:G:C 20724_17348_5783_R->T 0.000399361 226 chr14:64644089:G:A 20724_17444_5815_C->Y 0.000599042 226 chr14:64644184:G:A 20724_17539_5847_E->K 0.000599042 226 chr14:64653146:T:C 20724_17561_5854_L->P 0.00219649 226 chr14:64653152:A:C 20724_17567_5856_Q->P 0.000199681 226 chr14:64653158:T:C 20724_17573_5858_L->S 0.000199681 226 chr14:64653176:A:G 20724_17591_5864_N->S 0.000199681 226 chr14:64653203:C:A 20724_17618_5873_A->E 0.000399361 226 chr14:64653220:G:A 20724_17635_5879_V->I 0.000199681 226 chr14:64653238:A:T 20724_17653_5885_M->L 0.000199681 226 chr14:64655278:G:A 20724_17723_5908_R->H 0.000199681 226 chr14:64655305:A:G 20724_17750_5917_N->S 0.000199681 226 chr14:64669670:G:A 20724_18190_6064_A->T 0.00119808 226 chr14:64675506:G:A 20724_18232_6078_A->T 0.000399361 226 chr14:64675566:G:A 20724_18292_6098_A->T 0.000199681 226 chr14:64675597:A:G 20724_18323_6108_Q->R 0.000199681 226 chr14:64676220:C:T 20724_18464_6155_A->V 0.000399361 226 chr14:64676265:C:T 20724_18509_6170_T->M 0.000199681 226 chr14:64676751:C:T 20724_18632_6211_T->M 0.00359425 226 chr14:64676760:G:A 20724_18641_6214_R->K 0.000798722 226 chr14:64676763:T:C 20724_18644_6215_L->P 0.000199681 226 chr14:64676814:G:A 20724_18695_6232_R->Q 0.000199681 226 chr14:64676832:G:A 20724_18713_6238_R->Q 0.000199681 226 chr14:64678790:G:A 20724_18835_6279_A->T 0.00179712 226 chr14:64678793:G:A 20724_18838_6280_D->N 0.000599042 226 chr14:64678806:G:A 20724_18851_6284_R->H 0.000199681 226 chr14:64679608:G:T 20724_18941_6314_S->I 0.000199681 226 chr14:64679659:G:A 20724_18992_6331_R->H 0.000199681 226 chr14:64679722:C:T 20724_19055_6352_P->L 0.000199681 226 chr14:64680943:A:G 20724_19088_6363_N->S 0.000199681 226 chr14:64680990:C:T 20724_19135_6379_R->C 0.000399361 226 chr14:64681059:G:A 20724_19204_6402_E->K 0.000199681 226 chr14:64681158:G:A 20724_19303_6435_E->K 0.000199681 226 chr14:64681168:C:T 20724_19313_6438_P->L 0.000998403 226 chr14:64682978:C:T 20724_19415_6472_S->L 0.000599042 226 chr14:64682980:G:C 20724_19417_6473_D->H 0.000599042 226 chr14:64683004:G:C 20724_19441_6481_D->H 0.000199681 226 chr14:64683052:A:G 20724_19489_6497_R->G 0.000199681 226 chr14:64683056:A:T 20724_19493_6498_N->I 0.000399361 226 chr14:64683064:C:T 20724_19501_6501_P->S 0.000199681 226 chr14:64685154:A:C 20724_19581_6527_K->N 0.00199681 226 chr14:64685182:C:G 20724_19609_6537_P->A 0.000199681 226 chr14:64685209:G:A 20724_19636_6546_G->S 0.000199681 226 chr14:64685212:A:G 20724_19639_6547_I->V 0.00599042 226 chr14:64686021:G:A 20724_19753_6585_A->T 0.000199681 226 chr14:64687258:A:T 20724_19964_6655_Q->L 0.00139776 226 chr14:64687261:G:C 20724_19967_6656_S->T 0.000399361 226 chr14:64687269:C:T 20724_19975_6659_R->C 0.000199681 226 chr14:64687275:C:A 20724_19981_6661_L->M 0.000199681 226 chr14:64687284:C:G 20724_19990_6664_L->V 0.000199681 226 chr14:64687305:G:A 20724_20011_6671_A->T 0.00139776 226 chr14:64687324:G:A 20724_20030_6677_G->E 0.000199681 226 chr14:64687327:G:C 20724_20033_6678_G->A 0.000399361 226 chr14:64687341:C:T 20724_20047_6683_L->F 0.000399361 226 chr14:64688347:C:G 20724_20115_6705_N->K 0.000199681 226 chr14:64688349:G:A 20724_20117_6706_R->Q 0.00459265 226 chr14:64688358:A:C 20724_20126_6709_K->T 0.000199681 226 chr14:64688386:C:A 20724_20154_6718_D->E 0.000399361 226 chr14:64688388:C:G 20724_20156_6719_P->R 0.000199681 226 chr14:64688390:C:T 20724_20158_6720_R->W 0.00119808 226 chr14:64688391:G:A 20724_20159_6720_R->Q 0.000199681 226 chr14:64688409:G:A 20724_20177_6726_R->Q 0.000599042 226 chr14:64689913:G:A 20724_20197_6733_E->K 0.000998403 226 chr14:64689919:G:A 20724_20203_6735_E->K 0.000399361 226 chr14:64689932:G:A 20724_20216_6739_R->H 0.000199681 226 chr14:64690030:A:G 20724_20314_6772_I->V 0.000199681 226 chr14:64690055:G:A 20724_20339_6780_R->Q 0.00139776 226 chr14:64691206:G:A 20724_20410_6804_D->N 0.000399361 226 chr14:64691245:G:A 20724_20449_6817_V->M 0.000199681 226 chr14:64691744:G:A 20724_20497_6833_E->K 0.00239617 226 chr14:64692044:G:C 20724_20524_6842_G->R 0.000199681 226 chr14:64692056:C:T 20724_20536_6846_P->S 0.000199681 226 chr14:64692062:C:T 20724_20542_6848_R->C 0.000199681 226 chr14:64692071:C:G 20724_20551_6851_L->V 0.000599042 226 chr14:64692110:C:T 20724_20590_6864_L->F 0.000199681 226 chr14:64692150:C:T 20724_20630_6877_S->F 0.000199681 226 chr14:64692152:T:G 20724_20632_6878_S->A 0.000599042 226 chr14:64692153:C:A 20724_20633_6878_S->Y 0.000599042 226 chr14:64692194:C:T 20724_20674_6892_R->W 0.000199681 226 na12878 Variants: 226 chr14:64497930:G:A 20724_7076_2359_S->N 226 chr14:64498037:G:A 20724_7183_2395_A->T 226 chr14:64522674:G:C 20724_9757_3253_D->H 226 chr14:64522843:A:G 20724_9926_3309_H->R 226 chr14:64676751:C:T 20724_18632_6211_T->M 226 chr14:64491695:T:C 20724_5906_1969_M->T 226 chr14:64496749:C:T 20724_6851_2284_A->V 226 chr14:64519035:A:G 20724_8404_2802_S->G 226 chr14:64519455:A:G 20724_8824_2942_I->V 226 snyder Variants: 226 chr14:64497930:G:A 20724_7076_2359_S->N 226 chr14:64498037:G:A 20724_7183_2395_A->T 226 chr14:64520020:A:G 20724_9389_3130_N->S 226 chr14:64522674:G:C 20724_9757_3253_D->H 226 chr14:64522843:A:G 20724_9926_3309_H->R 226 chr14:64557734:A:C 20724_11944_3982_N->H 226 chr14:64604592:C:G 20724_14734_4912_P->A 226 chr14:64491695:T:C 20724_5906_1969_M->T 226 chr14:64496749:C:T 20724_6851_2284_A->V 226 chr14:64519035:A:G 20724_8404_2802_S->G 226 chr14:64519455:A:G 20724_8824_2942_I->V 227 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000054654_ENST00000344113 gene_Name: SYNE2_HUMAN 227 list of pdbs: 227 4FI9 pdb_description: 18-Jul-12 X-ray 3.050 Structure of human sun-kash complex 227 4DXS pdb_description: 06-Jun-12 X-ray 2.710 Human sun2-kash2 complex 227 Zimmer Variants: 227 chr14:64497930:G:A 20658_7076_2359_S->N 227 chr14:64498037:G:A 20658_7183_2395_A->T 227 chr14:64522674:G:C 20658_9757_3253_D->H 227 chr14:64522843:A:G 20658_9926_3309_H->R 227 chr14:64633984:G:A 20658_16639_5547_D->N 227 chr14:64491695:T:C 20658_5906_1969_M->T 227 chr14:64496749:C:T 20658_6851_2284_A->V 227 chr14:64519035:A:G 20658_8404_2802_S->G 227 chr14:64519455:A:G 20658_8824_2942_I->V 227 chr14:64685212:A:G 20658_19570_6524_I->V 227 HGMD Variants: 227 chr14:64560092:G:A 20658_12002_4001_W->* 227 chr14:64676751:C:T 20658_18632_6211_T->M 227 oneKG Variants: 227 chr14:64537369:C:T 20658_10438_3480_R->* 0.000199681 227 chr14:64560092:G:A 20658_12002_4001_W->* 0.122404 227 chr14:64375888:C:T 20658_22_8_P->S 0.000599042 227 chr14:64375903:C:A 20658_37_13_Q->K 0.000199681 227 chr14:64408451:C:G 20658_180_60_D->E 0.000199681 227 chr14:64408645:A:G 20658_280_94_I->V 0.000399361 227 chr14:64408844:A:G 20658_391_131_I->V 0.000199681 227 chr14:64416564:C:G 20658_430_144_L->V 0.00179712 227 chr14:64416652:C:G 20658_518_173_S->C 0.000199681 227 chr14:64416655:A:G 20658_521_174_K->R 0.000599042 227 chr14:64421439:A:G 20658_593_198_Y->C 0.000199681 227 chr14:64421533:C:G 20658_687_229_D->E 0.000798722 227 chr14:64434503:T:C 20658_1067_356_L->P 0.000199681 227 chr14:64434542:C:T 20658_1106_369_A->V 0.000199681 227 chr14:64443393:A:G 20658_1241_414_Q->R 0.000199681 227 chr14:64443404:C:A 20658_1252_418_Q->K 0.0924521 227 chr14:64444625:C:A 20658_1296_432_S->R 0.0215655 227 chr14:64444651:C:G 20658_1322_441_S->W 0.000199681 227 chr14:64444685:A:C 20658_1356_452_E->D 0.000199681 227 chr14:64444689:C:T 20658_1360_454_H->Y 0.000199681 227 chr14:64445595:T:A 20658_1432_478_F->I 0.000199681 227 chr14:64445610:G:A 20658_1447_483_E->K 0.000998403 227 chr14:64445630:C:G 20658_1467_489_C->W 0.000199681 227 chr14:64447761:T:C 20658_1706_569_M->T 0.000199681 227 chr14:64447776:T:C 20658_1721_574_I->T 0.131989 227 chr14:64447779:A:G 20658_1724_575_Y->C 0.000798722 227 chr14:64447785:T:G 20658_1730_577_V->G 0.000199681 227 chr14:64449363:C:G 20658_1852_618_L->V 0.000399361 227 chr14:64449384:C:T 20658_1873_625_H->Y 0.00219649 227 chr14:64450479:A:G 20658_2026_676_K->E 0.0061901 227 chr14:64450490:T:G 20658_2037_679_D->E 0.000199681 227 chr14:64450507:A:G 20658_2054_685_N->S 0.000599042 227 chr14:64453202:A:C 20658_2180_727_E->A 0.000199681 227 chr14:64453256:A:G 20658_2234_745_Q->R 0.000399361 227 chr14:64453318:A:G 20658_2296_766_M->V 0.000199681 227 chr14:64453322:A:T 20658_2300_767_E->V 0.000199681 227 chr14:64457148:C:G 20658_2333_778_S->C 0.000199681 227 chr14:64457720:G:A 20658_2533_845_D->N 0.000199681 227 chr14:64457747:C:G 20658_2560_854_Q->E 0.00139776 227 chr14:64457805:G:A 20658_2618_873_S->N 0.000199681 227 chr14:64460571:A:G 20658_2665_889_N->D 0.000399361 227 chr14:64460638:T:C 20658_2732_911_I->T 0.000199681 227 chr14:64460668:A:G 20658_2762_921_D->G 0.000199681 227 chr14:64461807:G:T 20658_2827_943_D->Y 0.000399361 227 chr14:64461863:T:G 20658_2883_961_N->K 0.000199681 227 chr14:64461916:A:G 20658_2936_979_H->R 0.000599042 227 chr14:64464101:A:G 20658_3235_1079_T->A 0.000599042 227 chr14:64464960:T:G 20658_3267_1089_F->L 0.000399361 227 chr14:64465019:G:A 20658_3326_1109_S->N 0.00159744 227 chr14:64465642:T:C 20658_3364_1122_Y->H 0.000199681 227 chr14:64465743:A:T 20658_3465_1155_K->N 0.000199681 227 chr14:64467302:C:T 20658_3503_1168_A->V 0.000199681 227 chr14:64467304:C:T 20658_3505_1169_R->C 0.000199681 227 chr14:64467358:A:C 20658_3559_1187_I->L 0.0359425 227 chr14:64467412:G:A 20658_3613_1205_E->K 0.000199681 227 chr14:64468654:T:A 20658_3641_1214_M->K 0.000199681 227 chr14:64468723:C:T 20658_3710_1237_S->L 0.000199681 227 chr14:64468756:G:T 20658_3743_1248_G->V 0.000199681 227 chr14:64468780:G:A 20658_3767_1256_R->H 0.000399361 227 chr14:64469480:C:T 20658_3829_1277_R->C 0.000199681 227 chr14:64469828:C:T 20658_4177_1393_R->W 0.0255591 227 chr14:64469829:G:A 20658_4178_1393_R->Q 0.000399361 227 chr14:64469937:T:C 20658_4286_1429_L->P 0.00179712 227 chr14:64469960:A:G 20658_4309_1437_N->D 0.000399361 227 chr14:64470009:T:C 20658_4358_1453_I->T 0.000199681 227 chr14:64470045:A:G 20658_4394_1465_H->R 0.000199681 227 chr14:64476692:A:G 20658_4586_1529_Q->R 0.000199681 227 chr14:64476810:G:C 20658_4704_1568_E->D 0.000199681 227 chr14:64483200:G:T 20658_4738_1580_V->F 0.000399361 227 chr14:64483203:A:C 20658_4741_1581_K->Q 0.000199681 227 chr14:64483247:C:A 20658_4785_1595_N->K 0.00139776 227 chr14:64484335:A:G 20658_4910_1637_Y->C 0.000798722 227 chr14:64484337:T:C 20658_4912_1638_Y->H 0.000399361 227 chr14:64484439:C:T 20658_5014_1672_H->Y 0.000199681 227 chr14:64484470:T:C 20658_5045_1682_L->P 0.000798722 227 chr14:64486711:A:G 20658_5051_1684_E->G 0.000199681 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227 chr14:64678806:G:A 20658_18851_6284_R->H 0.000199681 227 chr14:64679608:G:T 20658_18941_6314_S->I 0.000199681 227 chr14:64679659:G:A 20658_18992_6331_R->H 0.000199681 227 chr14:64679722:C:T 20658_19055_6352_P->L 0.000199681 227 chr14:64680943:A:G 20658_19088_6363_N->S 0.000199681 227 chr14:64680990:C:T 20658_19135_6379_R->C 0.000399361 227 chr14:64681059:G:A 20658_19204_6402_E->K 0.000199681 227 chr14:64681158:G:A 20658_19303_6435_E->K 0.000199681 227 chr14:64681168:C:T 20658_19313_6438_P->L 0.000998403 227 chr14:64682978:C:T 20658_19346_6449_S->L 0.000599042 227 chr14:64682980:G:C 20658_19348_6450_D->H 0.000599042 227 chr14:64683004:G:C 20658_19372_6458_D->H 0.000199681 227 chr14:64683052:A:G 20658_19420_6474_R->G 0.000199681 227 chr14:64683056:A:T 20658_19424_6475_N->I 0.000399361 227 chr14:64683064:C:T 20658_19432_6478_P->S 0.000199681 227 chr14:64685154:A:C 20658_19512_6504_K->N 0.00199681 227 chr14:64685182:C:G 20658_19540_6514_P->A 0.000199681 227 chr14:64685209:G:A 20658_19567_6523_G->S 0.000199681 227 chr14:64685212:A:G 20658_19570_6524_I->V 0.00599042 227 chr14:64686021:G:A 20658_19684_6562_A->T 0.000199681 227 chr14:64687258:A:T 20658_19895_6632_Q->L 0.00139776 227 chr14:64687261:G:C 20658_19898_6633_S->T 0.000399361 227 chr14:64687269:C:T 20658_19906_6636_R->C 0.000199681 227 chr14:64687275:C:A 20658_19912_6638_L->M 0.000199681 227 chr14:64687284:C:G 20658_19921_6641_L->V 0.000199681 227 chr14:64687305:G:A 20658_19942_6648_A->T 0.00139776 227 chr14:64687324:G:A 20658_19961_6654_G->E 0.000199681 227 chr14:64687327:G:C 20658_19964_6655_G->A 0.000399361 227 chr14:64687341:C:T 20658_19978_6660_L->F 0.000399361 227 chr14:64688347:C:G 20658_20046_6682_N->K 0.000199681 227 chr14:64688349:G:A 20658_20048_6683_R->Q 0.00459265 227 chr14:64688358:A:C 20658_20057_6686_K->T 0.000199681 227 chr14:64688386:C:A 20658_20085_6695_D->E 0.000399361 227 chr14:64688388:C:G 20658_20087_6696_P->R 0.000199681 227 chr14:64688390:C:T 20658_20089_6697_R->W 0.00119808 227 chr14:64688391:G:A 20658_20090_6697_R->Q 0.000199681 227 chr14:64688409:G:A 20658_20108_6703_R->Q 0.000599042 227 chr14:64689913:G:A 20658_20128_6710_E->K 0.000998403 227 chr14:64689919:G:A 20658_20134_6712_E->K 0.000399361 227 chr14:64689932:G:A 20658_20147_6716_R->H 0.000199681 227 chr14:64690030:A:G 20658_20245_6749_I->V 0.000199681 227 chr14:64690055:G:A 20658_20270_6757_R->Q 0.00139776 227 chr14:64691206:G:A 20658_20341_6781_D->N 0.000399361 227 chr14:64691245:G:A 20658_20380_6794_V->M 0.000199681 227 chr14:64691744:G:A 20658_20431_6811_E->K 0.00239617 227 chr14:64692044:G:C 20658_20458_6820_G->R 0.000199681 227 chr14:64692056:C:T 20658_20470_6824_P->S 0.000199681 227 chr14:64692062:C:T 20658_20476_6826_R->C 0.000199681 227 chr14:64692071:C:G 20658_20485_6829_L->V 0.000599042 227 chr14:64692110:C:T 20658_20524_6842_L->F 0.000199681 227 chr14:64692150:C:T 20658_20564_6855_S->F 0.000199681 227 chr14:64692152:T:G 20658_20566_6856_S->A 0.000599042 227 chr14:64692153:C:A 20658_20567_6856_S->Y 0.000599042 227 chr14:64692194:C:T 20658_20608_6870_R->W 0.000199681 227 na12878 Variants: 227 chr14:64497930:G:A 20658_7076_2359_S->N 227 chr14:64498037:G:A 20658_7183_2395_A->T 227 chr14:64522674:G:C 20658_9757_3253_D->H 227 chr14:64522843:A:G 20658_9926_3309_H->R 227 chr14:64676751:C:T 20658_18632_6211_T->M 227 chr14:64491695:T:C 20658_5906_1969_M->T 227 chr14:64496749:C:T 20658_6851_2284_A->V 227 chr14:64519035:A:G 20658_8404_2802_S->G 227 chr14:64519455:A:G 20658_8824_2942_I->V 227 snyder Variants: 227 chr14:64497930:G:A 20658_7076_2359_S->N 227 chr14:64498037:G:A 20658_7183_2395_A->T 227 chr14:64520020:A:G 20658_9389_3130_N->S 227 chr14:64522674:G:C 20658_9757_3253_D->H 227 chr14:64522843:A:G 20658_9926_3309_H->R 227 chr14:64557734:A:C 20658_11944_3982_N->H 227 chr14:64604592:C:G 20658_14734_4912_P->A 227 chr14:64491695:T:C 20658_5906_1969_M->T 227 chr14:64496749:C:T 20658_6851_2284_A->V 227 chr14:64519035:A:G 20658_8404_2802_S->G 227 chr14:64519455:A:G 20658_8824_2942_I->V 228 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000054654_ENST00000357395 gene_Name: SYNE2_HUMAN 228 list of pdbs: 228 4FI9 pdb_description: 18-Jul-12 X-ray 3.050 Structure of human sun-kash complex 228 4DXS pdb_description: 06-Jun-12 X-ray 2.710 Human sun2-kash2 complex 228 Zimmer Variants: 228 chr14:64633984:G:A 9813_5794_1932_D->N 228 chr14:64685212:A:G 9813_8725_2909_I->V 228 HGMD Variants: 228 chr14:64560092:G:A 9813_1157_386_W->* 228 chr14:64676751:C:T 9813_7787_2596_T->M 228 oneKG Variants: 228 chr14:64560092:G:A 9813_1157_386_W->* 0.122404 228 chr14:64547178:T:C 9813_254_85_M->T 0.000399361 228 chr14:64547323:G:C 9813_399_133_Q->H 0.00119808 228 chr14:64547346:A:G 9813_422_141_Q->R 0.000199681 228 chr14:64548201:G:C 9813_473_158_S->T 0.000199681 228 chr14:64548283:T:G 9813_555_185_H->Q 0.000199681 228 chr14:64554139:T:A 9813_573_191_D->E 0.000199681 228 chr14:64554186:A:C 9813_620_207_Y->S 0.000199681 228 chr14:64554434:A:G 9813_685_229_I->V 0.00139776 228 chr14:64554440:A:G 9813_691_231_M->V 0.000199681 228 chr14:64554453:A:G 9813_704_235_D->G 0.000199681 228 chr14:64554454:C:A 9813_705_235_D->E 0.000199681 228 chr14:64554497:C:A 9813_748_250_Q->K 0.000199681 228 chr14:64554564:G:A 9813_815_272_R->Q 0.000199681 228 chr14:64556350:A:T 9813_884_295_K->I 0.000599042 228 chr14:64556355:A:G 9813_889_297_I->V 0.000199681 228 chr14:64556358:C:A 9813_892_298_L->I 0.000199681 228 chr14:64557696:G:A 9813_1061_354_R->Q 0.000199681 228 chr14:64557725:C:G 9813_1090_364_L->V 0.0163738 228 chr14:64557734:A:C 9813_1099_367_N->H 0.0924521 228 chr14:64560091:T:C 9813_1156_386_W->R 0.123602 228 chr14:64560133:T:C 9813_1198_400_Y->H 0.0101837 228 chr14:64560155:A:G 9813_1220_407_E->G 0.000199681 228 chr14:64560157:C:T 9813_1222_408_H->Y 0.000199681 228 chr14:64564679:C:T 9813_1276_426_R->C 0.00139776 228 chr14:64564680:G:A 9813_1277_426_R->H 0.0105831 228 chr14:64564785:A:G 9813_1382_461_E->G 0.000199681 228 chr14:64564830:G:A 9813_1427_476_G->D 0.000199681 228 chr14:64564851:C:A 9813_1448_483_A->D 0.000399361 228 chr14:64564859:C:T 9813_1456_486_R->W 0.000199681 228 chr14:64565504:G:A 9813_1501_501_E->K 0.00139776 228 chr14:64565528:G:T 9813_1525_509_V->L 0.000199681 228 chr14:64565535:G:C 9813_1532_511_S->T 0.000199681 228 chr14:64568678:C:T 9813_1565_522_P->L 0.000199681 228 chr14:64568705:A:G 9813_1592_531_H->R 0.000199681 228 chr14:64574226:A:G 9813_1665_555_I->M 0.000199681 228 chr14:64574243:C:T 9813_1682_561_S->F 0.000199681 228 chr14:64574276:A:T 9813_1715_572_N->I 0.00339457 228 chr14:64574288:G:A 9813_1727_576_G->D 0.000199681 228 chr14:64574300:C:T 9813_1739_580_S->F 0.000599042 228 chr14:64574312:A:G 9813_1751_584_N->S 0.00599042 228 chr14:64580075:T:C 9813_1781_594_I->T 0.024361 228 chr14:64580104:G:A 9813_1810_604_A->T 0.000199681 228 chr14:64580116:T:G 9813_1822_608_L->V 0.000199681 228 chr14:64580122:C:T 9813_1828_610_P->S 0.000998403 228 chr14:64580231:C:T 9813_1937_646_P->L 0.000199681 228 chr14:64586235:G:A 9813_2086_696_E->K 0.000199681 228 chr14:64587751:G:A 9813_2285_762_S->N 0.000199681 228 chr14:64587766:T:A 9813_2300_767_F->Y 0.000199681 228 chr14:64588759:A:T 9813_2343_781_K->N 0.000199681 228 chr14:64588769:A:G 9813_2353_785_K->E 0.000199681 228 chr14:64588825:C:A 9813_2409_803_N->K 0.0227636 228 chr14:64588827:A:G 9813_2411_804_D->G 0.00119808 228 chr14:64589140:C:T 9813_2572_858_P->S 0.000399361 228 chr14:64591798:T:C 9813_2579_860_V->A 0.00119808 228 chr14:64591831:C:G 9813_2612_871_T->S 0.00119808 228 chr14:64591835:G:A 9813_2616_872_M->I 0.000599042 228 chr14:64591884:C:G 9813_2665_889_Q->E 0.00119808 228 chr14:64591900:G:A 9813_2681_894_R->H 0.000199681 228 chr14:64593120:C:T 9813_2785_929_L->F 0.000199681 228 chr14:64593139:T:C 9813_2804_935_M->T 0.000199681 228 chr14:64593142:T:A 9813_2807_936_L->Q 0.000199681 228 chr14:64593186:G:T 9813_2851_951_V->L 0.000199681 228 chr14:64593400:G:A 9813_2947_983_E->K 0.000199681 228 chr14:64593419:T:C 9813_2966_989_L->P 0.000199681 228 chr14:64593458:C:T 9813_3005_1002_T->I 0.000399361 228 chr14:64593491:T:C 9813_3038_1013_L->P 0.000199681 228 chr14:64593506:A:G 9813_3053_1018_D->G 0.000199681 228 chr14:64595171:A:G 9813_3074_1025_N->S 0.000199681 228 chr14:64596530:A:G 9813_3205_1069_N->D 0.000199681 228 chr14:64596537:A:G 9813_3212_1071_E->G 0.00698882 228 chr14:64596543:G:A 9813_3218_1073_R->Q 0.000399361 228 chr14:64596779:G:C 9813_3308_1103_S->T 0.000399361 228 chr14:64596823:C:A 9813_3352_1118_P->T 0.00279553 228 chr14:64596829:G:A 9813_3358_1120_V->I 0.000399361 228 chr14:64596851:C:T 9813_3380_1127_A->V 0.000199681 228 chr14:64596884:T:C 9813_3413_1138_I->T 0.000199681 228 chr14:64596938:C:A 9813_3467_1156_A->E 0.000199681 228 chr14:64596953:T:C 9813_3482_1161_I->T 0.000399361 228 chr14:64599102:A:C 9813_3615_1205_K->N 0.000199681 228 chr14:64600790:T:C 9813_3673_1225_W->R 0.000798722 228 chr14:64600800:T:A 9813_3683_1228_F->Y 0.000399361 228 chr14:64604538:C:T 9813_3835_1279_R->W 0.000199681 228 chr14:64604539:G:A 9813_3836_1279_R->Q 0.00119808 228 chr14:64604578:C:T 9813_3875_1292_A->V 0.00159744 228 chr14:64604592:C:G 9813_3889_1297_P->A 0.0283546 228 chr14:64604595:G:A 9813_3892_1298_E->K 0.019369 228 chr14:64604610:A:G 9813_3907_1303_I->V 0.000199681 228 chr14:64606668:A:C 9813_4008_1336_R->S 0.000199681 228 chr14:64606735:T:G 9813_4075_1359_S->A 0.000599042 228 chr14:64608065:T:A 9813_4138_1380_S->T 0.000199681 228 chr14:64608066:C:T 9813_4139_1380_S->L 0.000599042 228 chr14:64608149:A:G 9813_4222_1408_T->A 0.000199681 228 chr14:64608155:A:G 9813_4228_1410_T->A 0.000199681 228 chr14:64608238:C:A 9813_4311_1437_H->Q 0.000199681 228 chr14:64608706:T:C 9813_4361_1454_I->T 0.000199681 228 chr14:64608718:A:G 9813_4373_1458_N->S 0.000599042 228 chr14:64608748:A:G 9813_4403_1468_D->G 0.000199681 228 chr14:64608756:C:T 9813_4411_1471_H->Y 0.00698882 228 chr14:64608784:A:T 9813_4439_1480_K->I 0.000199681 228 chr14:64610587:A:G 9813_4559_1520_Y->C 0.000199681 228 chr14:64610628:C:T 9813_4600_1534_R->C 0.00159744 228 chr14:64610629:G:A 9813_4601_1534_R->H 0.000399361 228 chr14:64612858:C:A 9813_4711_1571_L->M 0.368211 228 chr14:64612890:A:C 9813_4743_1581_L->F 0.000199681 228 chr14:64619282:G:C 9813_4795_1599_D->H 0.000199681 228 chr14:64619353:G:C 9813_4866_1622_E->D 0.000199681 228 chr14:64619361:C:T 9813_4874_1625_A->V 0.00119808 228 chr14:64619387:T:C 9813_4900_1634_S->P 0.000199681 228 chr14:64619391:G:A 9813_4904_1635_R->Q 0.000199681 228 chr14:64619396:G:A 9813_4909_1637_D->N 0.000199681 228 chr14:64619423:G:A 9813_4936_1646_V->I 0.00239617 228 chr14:64619430:C:T 9813_4943_1648_T->I 0.000399361 228 chr14:64625344:T:C 9813_4949_1650_V->A 0.00758786 228 chr14:64625398:A:G 9813_5003_1668_D->G 0.00119808 228 chr14:64625407:A:G 9813_5012_1671_Y->C 0.000199681 228 chr14:64625409:G:A 9813_5014_1672_D->N 0.000199681 228 chr14:64625415:G:A 9813_5020_1674_V->M 0.000399361 228 chr14:64625479:T:C 9813_5084_1695_L->S 0.000599042 228 chr14:64626031:C:T 9813_5120_1707_S->F 0.000199681 228 chr14:64626102:G:A 9813_5191_1731_G->S 0.000199681 228 chr14:64626143:C:G 9813_5232_1744_C->W 0.000199681 228 chr14:64626147:A:G 9813_5236_1746_N->D 0.000199681 228 chr14:64626154:A:G 9813_5243_1748_H->R 0.000399361 228 chr14:64628830:A:G 9813_5290_1764_K->E 0.000199681 228 chr14:64628851:C:T 9813_5311_1771_L->F 0.00139776 228 chr14:64628873:C:T 9813_5333_1778_A->V 0.000998403 228 chr14:64628890:G:A 9813_5350_1784_A->T 0.00119808 228 chr14:64630130:A:G 9813_5465_1822_H->R 0.000199681 228 chr14:64630132:G:A 9813_5467_1823_D->N 0.000399361 228 chr14:64630194:A:T 9813_5529_1843_Q->H 0.000599042 228 chr14:64630225:C:A 9813_5560_1854_P->T 0.00139776 228 chr14:64630240:T:A 9813_5575_1859_S->T 0.00339457 228 chr14:64630270:A:T 9813_5605_1869_M->L 0.000199681 228 chr14:64630284:A:T 9813_5619_1873_K->N 0.000199681 228 chr14:64632037:G:A 9813_5669_1890_R->Q 0.000199681 228 chr14:64632045:T:A 9813_5677_1893_S->T 0.00439297 228 chr14:64633964:C:G 9813_5774_1925_A->G 0.000599042 228 chr14:64633984:G:A 9813_5794_1932_D->N 0.00678914 228 chr14:64634045:C:T 9813_5855_1952_T->M 0.000199681 228 chr14:64634063:G:A 9813_5873_1958_R->Q 0.000399361 228 chr14:64634313:G:T 9813_6016_2006_A->S 0.000399361 228 chr14:64634346:A:G 9813_6049_2017_K->E 0.000199681 228 chr14:64635613:T:C 9813_6079_2027_S->P 0.000399361 228 chr14:64635628:A:G 9813_6094_2032_I->V 0.000199681 228 chr14:64635629:T:G 9813_6095_2032_I->S 0.000199681 228 chr14:64635674:C:T 9813_6140_2047_T->I 0.000399361 228 chr14:64636978:C:T 9813_6188_2063_T->M 0.00199681 228 chr14:64636984:G:A 9813_6194_2065_R->Q 0.000199681 228 chr14:64637011:G:A 9813_6221_2074_R->Q 0.000199681 228 chr14:64637121:G:T 9813_6331_2111_V->L 0.000199681 228 chr14:64637154:A:C 9813_6364_2122_T->P 0.000199681 228 chr14:64641774:G:C 9813_6503_2168_R->T 0.000399361 228 chr14:64644089:G:A 9813_6599_2200_C->Y 0.000599042 228 chr14:64644184:G:A 9813_6694_2232_E->K 0.000599042 228 chr14:64653146:T:C 9813_6716_2239_L->P 0.00219649 228 chr14:64653152:A:C 9813_6722_2241_Q->P 0.000199681 228 chr14:64653158:T:C 9813_6728_2243_L->S 0.000199681 228 chr14:64653176:A:G 9813_6746_2249_N->S 0.000199681 228 chr14:64653203:C:A 9813_6773_2258_A->E 0.000399361 228 chr14:64653220:G:A 9813_6790_2264_V->I 0.000199681 228 chr14:64653238:A:T 9813_6808_2270_M->L 0.000199681 228 chr14:64655278:G:A 9813_6878_2293_R->H 0.000199681 228 chr14:64655305:A:G 9813_6905_2302_N->S 0.000199681 228 chr14:64669670:G:A 9813_7345_2449_A->T 0.00119808 228 chr14:64675506:G:A 9813_7387_2463_A->T 0.000399361 228 chr14:64675566:G:A 9813_7447_2483_A->T 0.000199681 228 chr14:64675597:A:G 9813_7478_2493_Q->R 0.000199681 228 chr14:64676220:C:T 9813_7619_2540_A->V 0.000399361 228 chr14:64676265:C:T 9813_7664_2555_T->M 0.000199681 228 chr14:64676751:C:T 9813_7787_2596_T->M 0.00359425 228 chr14:64676760:G:A 9813_7796_2599_R->K 0.000798722 228 chr14:64676763:T:C 9813_7799_2600_L->P 0.000199681 228 chr14:64676814:G:A 9813_7850_2617_R->Q 0.000199681 228 chr14:64676832:G:A 9813_7868_2623_R->Q 0.000199681 228 chr14:64678790:G:A 9813_7990_2664_A->T 0.00179712 228 chr14:64678793:G:A 9813_7993_2665_D->N 0.000599042 228 chr14:64678806:G:A 9813_8006_2669_R->H 0.000199681 228 chr14:64679608:G:T 9813_8096_2699_S->I 0.000199681 228 chr14:64679659:G:A 9813_8147_2716_R->H 0.000199681 228 chr14:64679722:C:T 9813_8210_2737_P->L 0.000199681 228 chr14:64680943:A:G 9813_8243_2748_N->S 0.000199681 228 chr14:64680990:C:T 9813_8290_2764_R->C 0.000399361 228 chr14:64681059:G:A 9813_8359_2787_E->K 0.000199681 228 chr14:64681158:G:A 9813_8458_2820_E->K 0.000199681 228 chr14:64681168:C:T 9813_8468_2823_P->L 0.000998403 228 chr14:64682978:C:T 9813_8501_2834_S->L 0.000599042 228 chr14:64682980:G:C 9813_8503_2835_D->H 0.000599042 228 chr14:64683004:G:C 9813_8527_2843_D->H 0.000199681 228 chr14:64683052:A:G 9813_8575_2859_R->G 0.000199681 228 chr14:64683056:A:T 9813_8579_2860_N->I 0.000399361 228 chr14:64683064:C:T 9813_8587_2863_P->S 0.000199681 228 chr14:64685154:A:C 9813_8667_2889_K->N 0.00199681 228 chr14:64685182:C:G 9813_8695_2899_P->A 0.000199681 228 chr14:64685209:G:A 9813_8722_2908_G->S 0.000199681 228 chr14:64685212:A:G 9813_8725_2909_I->V 0.00599042 228 chr14:64686021:G:A 9813_8839_2947_A->T 0.000199681 228 chr14:64687258:A:T 9813_9050_3017_Q->L 0.00139776 228 chr14:64687261:G:C 9813_9053_3018_S->T 0.000399361 228 chr14:64687269:C:T 9813_9061_3021_R->C 0.000199681 228 chr14:64687275:C:A 9813_9067_3023_L->M 0.000199681 228 chr14:64687284:C:G 9813_9076_3026_L->V 0.000199681 228 chr14:64687305:G:A 9813_9097_3033_A->T 0.00139776 228 chr14:64687324:G:A 9813_9116_3039_G->E 0.000199681 228 chr14:64687327:G:C 9813_9119_3040_G->A 0.000399361 228 chr14:64687341:C:T 9813_9133_3045_L->F 0.000399361 228 chr14:64688347:C:G 9813_9201_3067_N->K 0.000199681 228 chr14:64688349:G:A 9813_9203_3068_R->Q 0.00459265 228 chr14:64688358:A:C 9813_9212_3071_K->T 0.000199681 228 chr14:64688386:C:A 9813_9240_3080_D->E 0.000399361 228 chr14:64688388:C:G 9813_9242_3081_P->R 0.000199681 228 chr14:64688390:C:T 9813_9244_3082_R->W 0.00119808 228 chr14:64688391:G:A 9813_9245_3082_R->Q 0.000199681 228 chr14:64688409:G:A 9813_9263_3088_R->Q 0.000599042 228 chr14:64689913:G:A 9813_9283_3095_E->K 0.000998403 228 chr14:64689919:G:A 9813_9289_3097_E->K 0.000399361 228 chr14:64689932:G:A 9813_9302_3101_R->H 0.000199681 228 chr14:64690030:A:G 9813_9400_3134_I->V 0.000199681 228 chr14:64690055:G:A 9813_9425_3142_R->Q 0.00139776 228 chr14:64691206:G:A 9813_9496_3166_D->N 0.000399361 228 chr14:64691245:G:A 9813_9535_3179_V->M 0.000199681 228 chr14:64691744:G:A 9813_9586_3196_E->K 0.00239617 228 chr14:64692044:G:C 9813_9613_3205_G->R 0.000199681 228 chr14:64692056:C:T 9813_9625_3209_P->S 0.000199681 228 chr14:64692062:C:T 9813_9631_3211_R->C 0.000199681 228 chr14:64692071:C:G 9813_9640_3214_L->V 0.000599042 228 chr14:64692110:C:T 9813_9679_3227_L->F 0.000199681 228 chr14:64692150:C:T 9813_9719_3240_S->F 0.000199681 228 chr14:64692152:T:G 9813_9721_3241_S->A 0.000599042 228 chr14:64692153:C:A 9813_9722_3241_S->Y 0.000599042 228 chr14:64692194:C:T 9813_9763_3255_R->W 0.000199681 228 na12878 Variants: 228 chr14:64676751:C:T 9813_7787_2596_T->M 228 snyder Variants: 228 chr14:64557734:A:C 9813_1099_367_N->H 228 chr14:64604592:C:G 9813_3889_1297_P->A 229 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000054654_ENST00000555002 gene_Name: SYNE2_HUMAN 229 list of pdbs: 229 4FI9 pdb_description: 18-Jul-12 X-ray 3.050 Structure of human sun-kash complex 229 4DXS pdb_description: 06-Jun-12 X-ray 2.710 Human sun2-kash2 complex 229 Zimmer Variants: 229 chr14:64633984:G:A 10626_6541_2181_D->N 229 chr14:64685212:A:G 10626_9541_3181_I->V 229 HGMD Variants: 229 chr14:64560092:G:A 10626_1904_635_W->* 229 chr14:64676751:C:T 10626_8534_2845_T->M 229 oneKG Variants: 229 chr14:64537369:C:T 10626_340_114_R->* 0.000199681 229 chr14:64560092:G:A 10626_1904_635_W->* 0.122404 229 chr14:64529596:C:T 10626_97_33_R->C 0.00119808 229 chr14:64529597:G:A 10626_98_33_R->H 0.0155751 229 chr14:64532153:T:G 10626_118_40_L->V 0.000199681 229 chr14:64532155:G:T 10626_120_40_L->F 0.000199681 229 chr14:64532206:C:G 10626_171_57_I->M 0.0173722 229 chr14:64532247:T:C 10626_212_71_I->T 0.000199681 229 chr14:64532250:G:A 10626_215_72_C->Y 0.000998403 229 chr14:64532264:G:A 10626_229_77_V->M 0.000399361 229 chr14:64532330:G:A 10626_295_99_E->K 0.000199681 229 chr14:64537441:A:G 10626_412_138_T->A 0.00319489 229 chr14:64537467:C:A 10626_438_146_D->E 0.000199681 229 chr14:64537498:A:C 10626_469_157_K->Q 0.0393371 229 chr14:64537513:C:G 10626_484_162_L->V 0.000998403 229 chr14:64537519:C:G 10626_490_164_L->V 0.000199681 229 chr14:64537528:C:G 10626_499_167_Q->E 0.000199681 229 chr14:64537562:G:T 10626_533_178_S->I 0.000199681 229 chr14:64537619:G:A 10626_590_197_R->Q 0.000399361 229 chr14:64540758:A:T 10626_672_224_K->N 0.000199681 229 chr14:64540823:A:G 10626_737_246_Q->R 0.0115815 229 chr14:64547178:T:C 10626_1070_357_M->T 0.000399361 229 chr14:64547323:G:C 10626_1215_405_Q->H 0.00119808 229 chr14:64547346:A:G 10626_1238_413_Q->R 0.000199681 229 chr14:64548201:G:C 10626_1289_430_S->T 0.000199681 229 chr14:64548283:T:G 10626_1371_457_H->Q 0.000199681 229 chr14:64554434:A:G 10626_1432_478_I->V 0.00139776 229 chr14:64554440:A:G 10626_1438_480_M->V 0.000199681 229 chr14:64554453:A:G 10626_1451_484_D->G 0.000199681 229 chr14:64554454:C:A 10626_1452_484_D->E 0.000199681 229 chr14:64554497:C:A 10626_1495_499_Q->K 0.000199681 229 chr14:64554564:G:A 10626_1562_521_R->Q 0.000199681 229 chr14:64556350:A:T 10626_1631_544_K->I 0.000599042 229 chr14:64556355:A:G 10626_1636_546_I->V 0.000199681 229 chr14:64556358:C:A 10626_1639_547_L->I 0.000199681 229 chr14:64557696:G:A 10626_1808_603_R->Q 0.000199681 229 chr14:64557725:C:G 10626_1837_613_L->V 0.0163738 229 chr14:64557734:A:C 10626_1846_616_N->H 0.0924521 229 chr14:64560091:T:C 10626_1903_635_W->R 0.123602 229 chr14:64560133:T:C 10626_1945_649_Y->H 0.0101837 229 chr14:64560155:A:G 10626_1967_656_E->G 0.000199681 229 chr14:64560157:C:T 10626_1969_657_H->Y 0.000199681 229 chr14:64564679:C:T 10626_2023_675_R->C 0.00139776 229 chr14:64564680:G:A 10626_2024_675_R->H 0.0105831 229 chr14:64564785:A:G 10626_2129_710_E->G 0.000199681 229 chr14:64564830:G:A 10626_2174_725_G->D 0.000199681 229 chr14:64564851:C:A 10626_2195_732_A->D 0.000399361 229 chr14:64564859:C:T 10626_2203_735_R->W 0.000199681 229 chr14:64565504:G:A 10626_2248_750_E->K 0.00139776 229 chr14:64565528:G:T 10626_2272_758_V->L 0.000199681 229 chr14:64565535:G:C 10626_2279_760_S->T 0.000199681 229 chr14:64568678:C:T 10626_2312_771_P->L 0.000199681 229 chr14:64568705:A:G 10626_2339_780_H->R 0.000199681 229 chr14:64574226:A:G 10626_2412_804_I->M 0.000199681 229 chr14:64574243:C:T 10626_2429_810_S->F 0.000199681 229 chr14:64574276:A:T 10626_2462_821_N->I 0.00339457 229 chr14:64574288:G:A 10626_2474_825_G->D 0.000199681 229 chr14:64574300:C:T 10626_2486_829_S->F 0.000599042 229 chr14:64574312:A:G 10626_2498_833_N->S 0.00599042 229 chr14:64580075:T:C 10626_2528_843_I->T 0.024361 229 chr14:64580104:G:A 10626_2557_853_A->T 0.000199681 229 chr14:64580116:T:G 10626_2569_857_L->V 0.000199681 229 chr14:64580122:C:T 10626_2575_859_P->S 0.000998403 229 chr14:64580231:C:T 10626_2684_895_P->L 0.000199681 229 chr14:64586235:G:A 10626_2833_945_E->K 0.000199681 229 chr14:64587751:G:A 10626_3032_1011_S->N 0.000199681 229 chr14:64587766:T:A 10626_3047_1016_F->Y 0.000199681 229 chr14:64588759:A:T 10626_3090_1030_K->N 0.000199681 229 chr14:64588769:A:G 10626_3100_1034_K->E 0.000199681 229 chr14:64588825:C:A 10626_3156_1052_N->K 0.0227636 229 chr14:64588827:A:G 10626_3158_1053_D->G 0.00119808 229 chr14:64589140:C:T 10626_3319_1107_P->S 0.000399361 229 chr14:64591798:T:C 10626_3326_1109_V->A 0.00119808 229 chr14:64591831:C:G 10626_3359_1120_T->S 0.00119808 229 chr14:64591835:G:A 10626_3363_1121_M->I 0.000599042 229 chr14:64591884:C:G 10626_3412_1138_Q->E 0.00119808 229 chr14:64591900:G:A 10626_3428_1143_R->H 0.000199681 229 chr14:64593120:C:T 10626_3532_1178_L->F 0.000199681 229 chr14:64593139:T:C 10626_3551_1184_M->T 0.000199681 229 chr14:64593142:T:A 10626_3554_1185_L->Q 0.000199681 229 chr14:64593186:G:T 10626_3598_1200_V->L 0.000199681 229 chr14:64593400:G:A 10626_3694_1232_E->K 0.000199681 229 chr14:64593419:T:C 10626_3713_1238_L->P 0.000199681 229 chr14:64593458:C:T 10626_3752_1251_T->I 0.000399361 229 chr14:64593491:T:C 10626_3785_1262_L->P 0.000199681 229 chr14:64593506:A:G 10626_3800_1267_D->G 0.000199681 229 chr14:64595171:A:G 10626_3821_1274_N->S 0.000199681 229 chr14:64596530:A:G 10626_3952_1318_N->D 0.000199681 229 chr14:64596537:A:G 10626_3959_1320_E->G 0.00698882 229 chr14:64596543:G:A 10626_3965_1322_R->Q 0.000399361 229 chr14:64596779:G:C 10626_4055_1352_S->T 0.000399361 229 chr14:64596823:C:A 10626_4099_1367_P->T 0.00279553 229 chr14:64596829:G:A 10626_4105_1369_V->I 0.000399361 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229 chr14:64608155:A:G 10626_4975_1659_T->A 0.000199681 229 chr14:64608238:C:A 10626_5058_1686_H->Q 0.000199681 229 chr14:64608706:T:C 10626_5108_1703_I->T 0.000199681 229 chr14:64608718:A:G 10626_5120_1707_N->S 0.000599042 229 chr14:64608748:A:G 10626_5150_1717_D->G 0.000199681 229 chr14:64608756:C:T 10626_5158_1720_H->Y 0.00698882 229 chr14:64608784:A:T 10626_5186_1729_K->I 0.000199681 229 chr14:64610587:A:G 10626_5306_1769_Y->C 0.000199681 229 chr14:64610628:C:T 10626_5347_1783_R->C 0.00159744 229 chr14:64610629:G:A 10626_5348_1783_R->H 0.000399361 229 chr14:64612858:C:A 10626_5458_1820_L->M 0.368211 229 chr14:64612890:A:C 10626_5490_1830_L->F 0.000199681 229 chr14:64619282:G:C 10626_5542_1848_D->H 0.000199681 229 chr14:64619353:G:C 10626_5613_1871_E->D 0.000199681 229 chr14:64619361:C:T 10626_5621_1874_A->V 0.00119808 229 chr14:64619387:T:C 10626_5647_1883_S->P 0.000199681 229 chr14:64619391:G:A 10626_5651_1884_R->Q 0.000199681 229 chr14:64619396:G:A 10626_5656_1886_D->N 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chr14:64635674:C:T 10626_6887_2296_T->I 0.000399361 229 chr14:64636978:C:T 10626_6935_2312_T->M 0.00199681 229 chr14:64636984:G:A 10626_6941_2314_R->Q 0.000199681 229 chr14:64637011:G:A 10626_6968_2323_R->Q 0.000199681 229 chr14:64637121:G:T 10626_7078_2360_V->L 0.000199681 229 chr14:64637154:A:C 10626_7111_2371_T->P 0.000199681 229 chr14:64641774:G:C 10626_7250_2417_R->T 0.000399361 229 chr14:64644089:G:A 10626_7346_2449_C->Y 0.000599042 229 chr14:64644184:G:A 10626_7441_2481_E->K 0.000599042 229 chr14:64653146:T:C 10626_7463_2488_L->P 0.00219649 229 chr14:64653152:A:C 10626_7469_2490_Q->P 0.000199681 229 chr14:64653158:T:C 10626_7475_2492_L->S 0.000199681 229 chr14:64653176:A:G 10626_7493_2498_N->S 0.000199681 229 chr14:64653203:C:A 10626_7520_2507_A->E 0.000399361 229 chr14:64653220:G:A 10626_7537_2513_V->I 0.000199681 229 chr14:64653238:A:T 10626_7555_2519_M->L 0.000199681 229 chr14:64655278:G:A 10626_7625_2542_R->H 0.000199681 229 chr14:64655305:A:G 10626_7652_2551_N->S 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chr14:64687269:C:T 10626_9877_3293_R->C 0.000199681 229 chr14:64687275:C:A 10626_9883_3295_L->M 0.000199681 229 chr14:64687284:C:G 10626_9892_3298_L->V 0.000199681 229 chr14:64687305:G:A 10626_9913_3305_A->T 0.00139776 229 chr14:64687324:G:A 10626_9932_3311_G->E 0.000199681 229 chr14:64687327:G:C 10626_9935_3312_G->A 0.000399361 229 chr14:64687341:C:T 10626_9949_3317_L->F 0.000399361 229 chr14:64688347:C:G 10626_10017_3339_N->K 0.000199681 229 chr14:64688349:G:A 10626_10019_3340_R->Q 0.00459265 229 chr14:64688358:A:C 10626_10028_3343_K->T 0.000199681 229 chr14:64688386:C:A 10626_10056_3352_D->E 0.000399361 229 chr14:64688388:C:G 10626_10058_3353_P->R 0.000199681 229 chr14:64688390:C:T 10626_10060_3354_R->W 0.00119808 229 chr14:64688391:G:A 10626_10061_3354_R->Q 0.000199681 229 chr14:64688409:G:A 10626_10079_3360_R->Q 0.000599042 229 chr14:64689913:G:A 10626_10099_3367_E->K 0.000998403 229 chr14:64689919:G:A 10626_10105_3369_E->K 0.000399361 229 chr14:64689932:G:A 10626_10118_3373_R->H 0.000199681 229 chr14:64690030:A:G 10626_10216_3406_I->V 0.000199681 229 chr14:64690055:G:A 10626_10241_3414_R->Q 0.00139776 229 chr14:64691206:G:A 10626_10312_3438_D->N 0.000399361 229 chr14:64691245:G:A 10626_10351_3451_V->M 0.000199681 229 chr14:64691744:G:A 10626_10399_3467_E->K 0.00239617 229 chr14:64692044:G:C 10626_10426_3476_G->R 0.000199681 229 chr14:64692056:C:T 10626_10438_3480_P->S 0.000199681 229 chr14:64692062:C:T 10626_10444_3482_R->C 0.000199681 229 chr14:64692071:C:G 10626_10453_3485_L->V 0.000599042 229 chr14:64692110:C:T 10626_10492_3498_L->F 0.000199681 229 chr14:64692150:C:T 10626_10532_3511_S->F 0.000199681 229 chr14:64692152:T:G 10626_10534_3512_S->A 0.000599042 229 chr14:64692153:C:A 10626_10535_3512_S->Y 0.000599042 229 chr14:64692194:C:T 10626_10576_3526_R->W 0.000199681 229 na12878 Variants: 229 chr14:64676751:C:T 10626_8534_2845_T->M 229 snyder Variants: 229 chr14:64557734:A:C 10626_1846_616_N->H 229 chr14:64604592:C:G 10626_4636_1546_P->A 230 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000054654_ENST00000394768 gene_Name: SYNE2_HUMAN 230 list of pdbs: 230 4FI9 pdb_description: 18-Jul-12 X-ray 3.050 Structure of human sun-kash complex 230 4DXS pdb_description: 06-Jun-12 X-ray 2.710 Human sun2-kash2 complex 230 Zimmer Variants: 230 chr14:64633984:G:A 9813_5794_1932_D->N;GNEG=Yes;GENE=SYNE2;CDSS=3;DBRECUR=SYNE2 230 chr14:64685212:A:G 9813_8725_2909_I->V;GNEG=Yes;GENE=SYNE2;CDSS=2;DBRECUR=SYNE2 230 HGMD Variants: 230 chr14:64560092:G:A 9813_1157_386_W->* 230 chr14:64676751:C:T 9813_7787_2596_T->M 230 oneKG Variants: 230 chr14:64560092:G:A 9813_1157_386_W->* 0.122404 230 chr14:64547178:T:C 9813_254_85_M->T 0.000399361 230 chr14:64547323:G:C 9813_399_133_Q->H 0.00119808 230 chr14:64547346:A:G 9813_422_141_Q->R 0.000199681 230 chr14:64548201:G:C 9813_473_158_S->T 0.000199681 230 chr14:64548283:T:G 9813_555_185_H->Q 0.000199681 230 chr14:64554139:T:A 9813_573_191_D->E 0.000199681 230 chr14:64554186:A:C 9813_620_207_Y->S 0.000199681 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chr14:64593419:T:C 9813_2966_989_L->P 0.000199681 230 chr14:64593458:C:T 9813_3005_1002_T->I 0.000399361 230 chr14:64593491:T:C 9813_3038_1013_L->P 0.000199681 230 chr14:64593506:A:G 9813_3053_1018_D->G 0.000199681 230 chr14:64595171:A:G 9813_3074_1025_N->S 0.000199681 230 chr14:64596530:A:G 9813_3205_1069_N->D 0.000199681 230 chr14:64596537:A:G 9813_3212_1071_E->G 0.00698882 230 chr14:64596543:G:A 9813_3218_1073_R->Q 0.000399361 230 chr14:64596779:G:C 9813_3308_1103_S->T 0.000399361 230 chr14:64596823:C:A 9813_3352_1118_P->T 0.00279553 230 chr14:64596829:G:A 9813_3358_1120_V->I 0.000399361 230 chr14:64596851:C:T 9813_3380_1127_A->V 0.000199681 230 chr14:64596884:T:C 9813_3413_1138_I->T 0.000199681 230 chr14:64596938:C:A 9813_3467_1156_A->E 0.000199681 230 chr14:64596953:T:C 9813_3482_1161_I->T 0.000399361 230 chr14:64599102:A:C 9813_3615_1205_K->N 0.000199681 230 chr14:64600790:T:C 9813_3673_1225_W->R 0.000798722 230 chr14:64600800:T:A 9813_3683_1228_F->Y 0.000399361 230 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9813_5677_1893_S->T 0.00439297 230 chr14:64633964:C:G 9813_5774_1925_A->G 0.000599042 230 chr14:64633984:G:A 9813_5794_1932_D->N 0.00678914 230 chr14:64634045:C:T 9813_5855_1952_T->M 0.000199681 230 chr14:64634063:G:A 9813_5873_1958_R->Q 0.000399361 230 chr14:64634313:G:T 9813_6016_2006_A->S 0.000399361 230 chr14:64634346:A:G 9813_6049_2017_K->E 0.000199681 230 chr14:64635613:T:C 9813_6079_2027_S->P 0.000399361 230 chr14:64635628:A:G 9813_6094_2032_I->V 0.000199681 230 chr14:64635629:T:G 9813_6095_2032_I->S 0.000199681 230 chr14:64635674:C:T 9813_6140_2047_T->I 0.000399361 230 chr14:64636978:C:T 9813_6188_2063_T->M 0.00199681 230 chr14:64636984:G:A 9813_6194_2065_R->Q 0.000199681 230 chr14:64637011:G:A 9813_6221_2074_R->Q 0.000199681 230 chr14:64637121:G:T 9813_6331_2111_V->L 0.000199681 230 chr14:64637154:A:C 9813_6364_2122_T->P 0.000199681 230 chr14:64641774:G:C 9813_6503_2168_R->T 0.000399361 230 chr14:64644089:G:A 9813_6599_2200_C->Y 0.000599042 230 chr14:64644184:G:A 9813_6694_2232_E->K 0.000599042 230 chr14:64653146:T:C 9813_6716_2239_L->P 0.00219649 230 chr14:64653152:A:C 9813_6722_2241_Q->P 0.000199681 230 chr14:64653158:T:C 9813_6728_2243_L->S 0.000199681 230 chr14:64653176:A:G 9813_6746_2249_N->S 0.000199681 230 chr14:64653203:C:A 9813_6773_2258_A->E 0.000399361 230 chr14:64653220:G:A 9813_6790_2264_V->I 0.000199681 230 chr14:64653238:A:T 9813_6808_2270_M->L 0.000199681 230 chr14:64655278:G:A 9813_6878_2293_R->H 0.000199681 230 chr14:64655305:A:G 9813_6905_2302_N->S 0.000199681 230 chr14:64669670:G:A 9813_7345_2449_A->T 0.00119808 230 chr14:64675506:G:A 9813_7387_2463_A->T 0.000399361 230 chr14:64675566:G:A 9813_7447_2483_A->T 0.000199681 230 chr14:64675597:A:G 9813_7478_2493_Q->R 0.000199681 230 chr14:64676220:C:T 9813_7619_2540_A->V 0.000399361 230 chr14:64676265:C:T 9813_7664_2555_T->M 0.000199681 230 chr14:64676751:C:T 9813_7787_2596_T->M 0.00359425 230 chr14:64676760:G:A 9813_7796_2599_R->K 0.000798722 230 chr14:64676763:T:C 9813_7799_2600_L->P 0.000199681 230 chr14:64676814:G:A 9813_7850_2617_R->Q 0.000199681 230 chr14:64676832:G:A 9813_7868_2623_R->Q 0.000199681 230 chr14:64678790:G:A 9813_7990_2664_A->T 0.00179712 230 chr14:64678793:G:A 9813_7993_2665_D->N 0.000599042 230 chr14:64678806:G:A 9813_8006_2669_R->H 0.000199681 230 chr14:64679608:G:T 9813_8096_2699_S->I 0.000199681 230 chr14:64679659:G:A 9813_8147_2716_R->H 0.000199681 230 chr14:64679722:C:T 9813_8210_2737_P->L 0.000199681 230 chr14:64680943:A:G 9813_8243_2748_N->S 0.000199681 230 chr14:64680990:C:T 9813_8290_2764_R->C,1 0.000399361 230 chr14:64681059:G:A 9813_8359_2787_E->K 0.000199681 230 chr14:64681158:G:A 9813_8458_2820_E->K 0.000199681 230 chr14:64681168:C:T 9813_8468_2823_P->L 0.000998403 230 chr14:64682978:C:T 9813_8501_2834_S->L 0.000599042 230 chr14:64682980:G:C 9813_8503_2835_D->H 0.000599042 230 chr14:64683004:G:C 9813_8527_2843_D->H 0.000199681 230 chr14:64683052:A:G 9813_8575_2859_R->G 0.000199681 230 chr14:64683056:A:T 9813_8579_2860_N->I 0.000399361 230 chr14:64683064:C:T 9813_8587_2863_P->S 0.000199681 230 chr14:64685154:A:C 9813_8667_2889_K->N 0.00199681 230 chr14:64685182:C:G 9813_8695_2899_P->A 0.000199681 230 chr14:64685209:G:A 9813_8722_2908_G->S 0.000199681 230 chr14:64685212:A:G 9813_8725_2909_I->V 0.00599042 230 chr14:64686021:G:A 9813_8839_2947_A->T 0.000199681 230 chr14:64687258:A:T 9813_9050_3017_Q->L 0.00139776 230 chr14:64687261:G:C 9813_9053_3018_S->T 0.000399361 230 chr14:64687269:C:T 9813_9061_3021_R->C 0.000199681 230 chr14:64687275:C:A 9813_9067_3023_L->M 0.000199681 230 chr14:64687284:C:G 9813_9076_3026_L->V 0.000199681 230 chr14:64687305:G:A 9813_9097_3033_A->T 0.00139776 230 chr14:64687324:G:A 9813_9116_3039_G->E 0.000199681 230 chr14:64687327:G:C 9813_9119_3040_G->A 0.000399361 230 chr14:64687341:C:T 9813_9133_3045_L->F 0.000399361 230 chr14:64688347:C:G 9813_9201_3067_N->K 0.000199681 230 chr14:64688349:G:A 9813_9203_3068_R->Q 0.00459265 230 chr14:64688358:A:C 9813_9212_3071_K->T 0.000199681 230 chr14:64688386:C:A 9813_9240_3080_D->E 0.000399361 230 chr14:64688388:C:G 9813_9242_3081_P->R 0.000199681 230 chr14:64688390:C:T 9813_9244_3082_R->W 0.00119808 230 chr14:64688391:G:A 9813_9245_3082_R->Q 0.000199681 230 chr14:64688409:G:A 9813_9263_3088_R->Q 0.000599042 230 chr14:64689913:G:A 9813_9283_3095_E->K 0.000998403 230 chr14:64689919:G:A 9813_9289_3097_E->K 0.000399361 230 chr14:64689932:G:A 9813_9302_3101_R->H 0.000199681 230 chr14:64690030:A:G 9813_9400_3134_I->V 0.000199681 230 chr14:64690055:G:A 9813_9425_3142_R->Q 0.00139776 230 chr14:64691206:G:A 9813_9496_3166_D->N 0.000399361 230 chr14:64691245:G:A 9813_9535_3179_V->M 0.000199681 230 chr14:64691744:G:A 9813_9586_3196_E->K 0.00239617 230 chr14:64692044:G:C 9813_9613_3205_G->R 0.000199681 230 chr14:64692056:C:T 9813_9625_3209_P->S 0.000199681 230 chr14:64692062:C:T 9813_9631_3211_R->C 0.000199681 230 chr14:64692071:C:G 9813_9640_3214_L->V 0.000599042 230 chr14:64692110:C:T 9813_9679_3227_L->F 0.000199681 230 chr14:64692150:C:T 9813_9719_3240_S->F,1 0.000199681 230 chr14:64692152:T:G 9813_9721_3241_S->A 0.000599042 230 chr14:64692153:C:A 9813_9722_3241_S->Y,1 0.000599042 230 chr14:64692194:C:T 9813_9763_3255_R->W 0.000199681 230 na12878 Variants: 230 chr14:64676751:C:T 9813_7787_2596_T->M 230 snyder Variants: 230 chr14:64557734:A:C 9813_1099_367_N->H 230 chr14:64604592:C:G 9813_3889_1297_P->A 231 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100714_ENST00000216605 gene_Name: C1TC_HUMAN 231 list of pdbs: 231 1DIG pdb_description: 05-Jul-00 X-ray 2.200 Human methylenetetrahydrofolate dehydrogenase / cyclohydrolase complexed with NADP and inhibitor ly374571 231 1DIB pdb_description: 05-Jul-00 X-ray 2.700 Human methylenetetrahydrofolate dehydrogenase / cyclohydrolase complexed with NADP and inhibitor ly345899 231 1DIA pdb_description: 05-Jul-00 X-ray 2.200 Human methylenetetrahydrofolate dehydrogenase / cyclohydrolase complexed with NADP and inhibitor ly249543 231 1A4I pdb_description: 09-Feb-99 X-ray 1.500 Human tetrahydrofolate dehydrogenase / cyclohydrolase 231 Zimmer Variants: 231 chr14:64882380:A:G 2808_401_134_K->R;HUB=PPI;GENE=MTHFD1;CDSS=3 231 chr14:64908845:G:A 2808_1958_653_R->Q;HUB=PPI;GENE=MTHFD1;CDSS=3 231 HGMD Variants: 231 chr14:64882380:A:G 2808_401_134_K->R 231 chr14:64884644:C:T 2808_517_173_R->C 231 chr14:64892470:G:A 2808_878_293_R->H 231 chr14:64908845:G:A 2808_1958_653_R->Q 231 oneKG Variants: 231 chr14:64867522:C:T 2808_53_18_A->V 0.00179712 231 chr14:64867537:A:G 2808_68_23_Q->R 0.000199681 231 chr14:64867578:C:A 2808_109_37_R->S 0.000399361 231 chr14:64882371:A:G 2808_392_131_N->S 0.000199681 231 chr14:64882380:A:G 2808_401_134_K->R 0.176518 231 chr14:64882407:G:C 2808_428_143_C->S 0.000199681 231 chr14:64884626:C:T 2808_499_167_H->Y 0.000199681 231 chr14:64891534:C:G 2808_740_247_P->R 0.000399361 231 chr14:64891615:G:A 2808_821_274_G->D 0.000199681 231 chr14:64891617:G:A 2808_823_275_V->I 0.000199681 231 chr14:64891627:T:C 2808_833_278_M->T 0.000199681 231 chr14:64892512:A:G 2808_920_307_Y->C 0.00179712 231 chr14:64892747:A:G 2808_964_322_I->V 0.000199681 231 chr14:64892754:G:T 2808_971_324_R->L 0.000199681 231 chr14:64892816:G:A 2808_1033_345_V->I 0.000199681 231 chr14:64892901:T:C 2808_1118_373_V->A 0.000199681 231 chr14:64894098:A:G 2808_1171_391_I->V 0.000399361 231 chr14:64902296:A:T 2808_1504_502_I->F 0.000199681 231 chr14:64902347:G:A 2808_1555_519_A->T 0.000399361 231 chr14:64905889:C:T 2808_1673_558_T->M 0.000199681 231 chr14:64908131:T:C 2808_1844_615_M->T 0.000199681 231 chr14:64908819:T:G 2808_1932_644_H->Q 0.000199681 231 chr14:64908837:T:G 2808_1950_650_I->M 0.000199681 231 chr14:64908845:G:A 2808_1958_653_R->Q 0.341853 231 chr14:64909041:G:A 2808_2057_686_R->Q 0.000199681 231 chr14:64909076:G:C 2808_2092_698_V->L 0.000199681 231 chr14:64916165:C:T 2808_2282_761_T->M 0.0311502 231 chr14:64916188:C:T 2808_2305_769_L->F 0.0321486 231 chr14:64916197:C:T 2808_2314_772_R->C 0.000199681 231 chr14:64916198:G:A 2808_2315_772_R->H 0.00998403 231 chr14:64916291:A:G 2808_2408_803_Q->R 0.000599042 231 chr14:64920510:G:T 2808_2496_832_K->N 0.000199681 231 chr14:64920512:T:C 2808_2498_833_I->T 0.000199681 231 chr14:64920524:A:G 2808_2510_837_D->G 0.000199681 231 chr14:64921442:G:A 2808_2567_856_G->D 0.000199681 231 chr14:64924960:G:A 2808_2747_916_R->Q 0.000199681 231 na12878 Variants: 231 chr14:64882380:A:G 2808_401_134_K->R 231 chr14:64908845:G:A 2808_1958_653_R->Q 231 snyder Variants: 231 chr14:64882380:A:G 2808_401_134_K->R 231 chr14:64908845:G:A 2808_1958_653_R->Q 232 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070182_ENST00000389722 gene_Name: SPTB1_HUMAN 232 list of pdbs: 232 3F57 pdb_description: 24-Feb-09 X-ray 2.900 Crystal structure of human erythroid beta spectrin repeats 1 (ankyrin binding domain) 232 3EDU pdb_description: 10-Feb-09 X-ray 2.100 Crystal structure of the ankyrin-binding domain of human ery spectrin 232 1S35 pdb_description: 20-Apr-04 X-ray 2.400 Crystal structure of repeats 8 and 9 of human erythroid spectrin 232 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 232 3KBU pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank), emts derivativ 232 3KBT pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank) 232 Zimmer Variants: 232 chr14:65253232:T:C 6987_3451_1151_N->D 232 chr14:65263300:C:T 6987_1316_439_S->N 232 HGMD Variants: 232 chr14:65234395:C:A 6987_6205_2069_E->* 232 chr14:65236409:G:A 6987_5836_1946_Q->* 232 chr14:65239585:G:A 6987_5266_1756_R->* 232 chr14:65259848:G:A 6987_2533_845_Q->* 232 chr14:65262159:G:A 6987_1540_514_Q->* 232 chr14:65234409:C:G 6987_6191_2064_R->P 232 chr14:65234419:A:T 6987_6181_2061_W->R 232 chr14:65234443:C:G 6987_6157_2053_A->P 232 chr14:65234526:A:C 6987_6074_2025_L->R 232 chr14:65234530:A:T 6987_6070_2024_W->R 232 chr14:65234532:G:A 6987_6068_2023_A->V 232 chr14:65234545:A:G 6987_6055_2019_S->P 232 chr14:65234547:G:C 6987_6053_2018_A->G 232 chr14:65237750:G:A 6987_5651_1884_A->V 232 chr14:65240066:G:A 6987_5050_1684_R->C 232 chr14:65252552:G:A 6987_3679_1227_P->S 232 chr14:65268108:T:C 6987_658_220_I->V 232 chr14:65268515:A:G 6987_604_202_W->R 232 chr14:65268944:C:G 6987_566_189_G->A 232 chr14:65268966:A:C 6987_544_182_W->G 232 chr14:65271802:C:T 6987_155_52_R->Q 232 chr14:65289812:T:C 6987_1_1_M->V 232 oneKG Variants: 232 chr14:65239396:C:A 6987_5455_1819_E->* 0.000798722 232 chr14:65251051:G:A 6987_3916_1306_R->* 0.000199681 232 chr14:65216074:C:T 6987_6937_2313_G->S 0.000199681 232 chr14:65216076:A:G 6987_6935_2312_L->P 0.000199681 232 chr14:65216086:C:T 6987_6925_2309_D->N 0.000199681 232 chr14:65216382:C:T 6987_6809_2270_G->D 0.000199681 232 chr14:65216760:T:C 6987_6715_2239_R->G 0.000199681 232 chr14:65220272:G:T 6987_6585_2195_N->K 0.000199681 232 chr14:65220298:G:A 6987_6559_2187_R->C 0.000199681 232 chr14:65220339:C:T 6987_6518_2173_R->Q 0.000199681 232 chr14:65220342:G:A 6987_6515_2172_P->L 0.000399361 232 chr14:65220354:G:A 6987_6503_2168_T->M 0.000199681 232 chr14:65220361:G:C 6987_6496_2166_P->A 0.00239617 232 chr14:65220374:G:A,T 6987_6483_2161_S->R 0.00239617 232 chr14:65220384:G:A 6987_6473_2158_T->M 0.000199681 232 chr14:65220407:C:A 6987_6450_2150_E->D 0.000199681 232 chr14:65220462:G:A 6987_6395_2132_P->L 0.000199681 232 chr14:65220465:G:A 6987_6392_2131_P->L 0.000399361 232 chr14:65220496:T:C 6987_6361_2121_T->A 0.000199681 232 chr14:65234030:T:A 6987_6260_2087_E->V 0.000199681 232 chr14:65234430:G:T 6987_6170_2057_S->Y 0.000199681 232 chr14:65235758:G:A 6987_6016_2006_R->C 0.000199681 232 chr14:65235783:C:A 6987_5991_1997_K->N 0.000199681 232 chr14:65235830:C:T 6987_5944_1982_E->K 0.00159744 232 chr14:65235832:C:T 6987_5942_1981_R->H 0.0 232 chr14:65235833:G:C 6987_5941_1981_R->G 0.000199681 232 chr14:65236330:C:T 6987_5915_1972_R->Q 0.000199681 232 chr14:65236331:G:A 6987_5914_1972_R->W 0.000199681 232 chr14:65236349:C:T 6987_5896_1966_G->S 0.000199681 232 chr14:65236369:A:G 6987_5876_1959_F->S 0.000399361 232 chr14:65236390:A:G 6987_5855_1952_I->T 0.000399361 232 chr14:65237630:C:T 6987_5771_1924_R->Q 0.000199681 232 chr14:65237663:C:T 6987_5738_1913_R->H 0.000199681 232 chr14:65237675:A:G 6987_5726_1909_F->S 0.000998403 232 chr14:65237712:T:C 6987_5689_1897_T->A 0.000399361 232 chr14:65237721:C:T 6987_5680_1894_G->R 0.000199681 232 chr14:65237750:G:A 6987_5651_1884_A->V 0.00119808 232 chr14:65237765:T:C 6987_5636_1879_Q->R 0.000199681 232 chr14:65239323:C:T 6987_5528_1843_R->Q 0.00119808 232 chr14:65239357:C:T 6987_5494_1832_E->K 0.000199681 232 chr14:65239395:T:A 6987_5456_1819_E->V 0.000798722 232 chr14:65239399:G:A 6987_5452_1818_R->C 0.000399361 232 chr14:65239429:C:T 6987_5422_1808_E->K 0.000998403 232 chr14:65239633:C:T 6987_5218_1740_G->R 0.000199681 232 chr14:65239641:C:T 6987_5210_1737_R->Q 0.000199681 232 chr14:65239642:G:A 6987_5209_1737_R->W 0.000599042 232 chr14:65239943:C:T 6987_5173_1725_V->M 0.000599042 232 chr14:65239969:G:A 6987_5147_1716_P->L 0.000199681 232 chr14:65240015:C:T 6987_5101_1701_D->N 0.000199681 232 chr14:65240026:C:T 6987_5090_1697_R->Q 0.000199681 232 chr14:65240066:G:A 6987_5050_1684_R->C 0.00219649 232 chr14:65240084:C:T 6987_5032_1678_V->M 0.000199681 232 chr14:65240103:G:C 6987_5013_1671_H->Q 0.000199681 232 chr14:65241176:G:A 6987_4912_1638_R->W 0.000399361 232 chr14:65241196:C:T 6987_4892_1631_R->H 0.000399361 232 chr14:65241848:G:A 6987_4837_1613_P->S 0.00239617 232 chr14:65241868:T:G 6987_4817_1606_Y->S 0.000399361 232 chr14:65241911:C:A 6987_4774_1592_D->Y 0.000199681 232 chr14:65241914:G:T 6987_4771_1591_L->M 0.000199681 232 chr14:65241962:C:T 6987_4723_1575_G->R 0.000199681 232 chr14:65241976:C:T 6987_4709_1570_R->Q 0.000199681 232 chr14:65241986:C:G 6987_4699_1567_D->H 0.00279553 232 chr14:65241997:T:C 6987_4688_1563_Q->R 0.000199681 232 chr14:65242015:T:C 6987_4670_1557_E->G 0.000399361 232 chr14:65242090:G:A 6987_4595_1532_P->L 0.000399361 232 chr14:65245883:T:G 6987_4555_1519_K->Q 0.000199681 232 chr14:65245927:G:A 6987_4511_1504_A->V 0.000199681 232 chr14:65246463:G:A 6987_4453_1485_R->W 0.000199681 232 chr14:65246504:T:C 6987_4412_1471_K->R 0.000199681 232 chr14:65246540:C:T 6987_4376_1459_R->Q 0.000399361 232 chr14:65246634:C:T 6987_4282_1428_V->M 0.000199681 232 chr14:65249052:C:G 6987_4222_1408_G->R 0.101637 232 chr14:65249054:G:A 6987_4220_1407_P->L 0.000199681 232 chr14:65249066:C:T 6987_4208_1403_R->Q 0.0327476 232 chr14:65249092:C:A 6987_4182_1394_W->C 0.000399361 232 chr14:65249129:T:C 6987_4145_1382_D->G 0.000199681 232 chr14:65249147:G:A 6987_4127_1376_S->L 0.000399361 232 chr14:65249153:T:C 6987_4121_1374_H->R 0.0301518 232 chr14:65249198:C:T 6987_4076_1359_R->Q 0.000199681 232 chr14:65249199:G:A 6987_4075_1359_R->W 0.000998403 232 chr14:65250966:G:A 6987_4001_1334_A->V 0.000599042 232 chr14:65252304:A:T 6987_3806_1269_L->Q 0.000199681 232 chr14:65252552:G:A 6987_3679_1227_P->S 0.000599042 232 chr14:65252582:T:C 6987_3649_1217_M->V 0.000199681 232 chr14:65252663:T:C 6987_3568_1190_T->A 0.000199681 232 chr14:65253145:C:T 6987_3538_1180_A->T 0.000199681 232 chr14:65253232:T:C 6987_3451_1151_N->D 0.469449 232 chr14:65253247:G:T 6987_3436_1146_L->M 0.000199681 232 chr14:65253250:C:T 6987_3433_1145_G->S 0.000199681 232 chr14:65253258:C:T 6987_3425_1142_R->Q 0.000199681 232 chr14:65253288:G:A 6987_3395_1132_T->M 0.000199681 232 chr14:65253349:C:T 6987_3334_1112_G->R 0.00139776 232 chr14:65253391:G:T 6987_3292_1098_Q->K 0.000199681 232 chr14:65253400:C:T 6987_3283_1095_E->K 0.000199681 232 chr14:65253436:C:T 6987_3247_1083_A->T 0.000199681 232 chr14:65253450:G:A 6987_3233_1078_S->F 0.000998403 232 chr14:65253539:T:A 6987_3144_1048_Q->H 0.000199681 232 chr14:65253580:G:A 6987_3103_1035_R->W 0.00139776 232 chr14:65253612:G:A 6987_3071_1024_S->L 0.000199681 232 chr14:65253654:C:T 6987_3029_1010_R->H 0.000199681 232 chr14:65253679:G:C 6987_3004_1002_R->G 0.000599042 232 chr14:65253718:C:A 6987_2965_989_G->C 0.000199681 232 chr14:65253729:C:T 6987_2954_985_R->Q 0.000199681 232 chr14:65253730:G:A 6987_2953_985_R->W 0.000399361 232 chr14:65253732:C:T 6987_2951_984_G->E 0.000199681 232 chr14:65253802:C:T 6987_2881_961_V->I 0.00199681 232 chr14:65253805:A:G 6987_2878_960_C->R 0.000199681 232 chr14:65253819:C:T 6987_2864_955_R->Q 0.000199681 232 chr14:65253846:C:T 6987_2837_946_R->Q 0.000199681 232 chr14:65258480:G:T 6987_2761_921_R->S 0.000199681 232 chr14:65258545:G:A 6987_2696_899_T->I 0.000199681 232 chr14:65259725:C:A 6987_2656_886_V->L 0.000199681 232 chr14:65259788:C:T 6987_2593_865_G->R 0.000399361 232 chr14:65259901:C:T 6987_2480_827_R->Q 0.000599042 232 chr14:65259917:G:A 6987_2464_822_R->W 0.000199681 232 chr14:65259941:G:C 6987_2440_814_R->G 0.000399361 232 chr14:65259946:T:G 6987_2435_812_E->A 0.000199681 232 chr14:65259950:C:T 6987_2431_811_E->K 0.000998403 232 chr14:65259995:G:A 6987_2386_796_R->C 0.000199681 232 chr14:65260045:C:T 6987_2336_779_R->Q 0.000199681 232 chr14:65260046:G:A 6987_2335_779_R->W 0.000199681 232 chr14:65260058:C:T 6987_2323_775_E->K 0.000199681 232 chr14:65260078:C:T 6987_2303_768_G->D 0.00359425 232 chr14:65260168:T:C 6987_2213_738_N->S 0.000199681 232 chr14:65260231:C:T 6987_2150_717_R->H 0.000798722 232 chr14:65260232:G:A 6987_2149_717_R->C 0.000199681 232 chr14:65260264:C:T 6987_2117_706_R->H 0.000199681 232 chr14:65260265:G:A 6987_2116_706_R->C 0.000399361 232 chr14:65260321:C:T 6987_2060_687_R->H 0.00499201 232 chr14:65260543:C:A 6987_1838_613_S->I 0.00638978 232 chr14:65260549:C:T 6987_1832_611_R->H 0.000399361 232 chr14:65261215:C:T 6987_1765_589_A->T 0.00539137 232 chr14:65261283:A:T 6987_1697_566_L->Q 0.000199681 232 chr14:65261317:C:T 6987_1663_555_E->K 0.000199681 232 chr14:65261332:G:A 6987_1648_550_H->Y 0.000199681 232 chr14:65262093:C:T 6987_1606_536_D->N 0.000399361 232 chr14:65262096:G:T 6987_1603_535_Q->K 0.000199681 232 chr14:65262126:C:T 6987_1573_525_E->K 0.000199681 232 chr14:65262176:C:T 6987_1523_508_R->H 0.000998403 232 chr14:65262198:C:A 6987_1501_501_A->S 0.000199681 232 chr14:65262276:C:T 6987_1423_475_E->K 0.000199681 232 chr14:65262342:C:A 6987_1357_453_D->Y 0.000199681 232 chr14:65263300:C:T 6987_1316_439_S->N 0.466853 232 chr14:65263313:C:G 6987_1303_435_E->Q 0.000399361 232 chr14:65263340:G:A 6987_1276_426_R->C 0.000199681 232 chr14:65263343:G:A 6987_1273_425_R->W 0.000199681 232 chr14:65264514:C:T 6987_1115_372_R->Q 0.000399361 232 chr14:65266481:C:T 6987_1048_350_V->M 0.000399361 232 chr14:65266525:G:A 6987_1004_335_T->M 0.000399361 232 chr14:65266547:G:A 6987_982_328_R->C 0.000199681 232 chr14:65266565:T:C 6987_964_322_I->V 0.000199681 232 chr14:65266606:C:T 6987_923_308_S->N 0.000599042 232 chr14:65268027:T:C 6987_739_247_I->V 0.000199681 232 chr14:65268057:C:T 6987_709_237_A->T 0.000199681 232 chr14:65268950:G:A 6987_560_187_T->M 0.000199681 232 chr14:65270369:G:A 6987_430_144_R->C 0.000199681 232 chr14:65271700:C:T 6987_257_86_R->H 0.000399361 232 chr14:65271737:G:A 6987_220_74_R->C 0.000199681 232 chr14:65271746:C:T 6987_211_71_V->M 0.000199681 232 chr14:65271775:G:A 6987_182_61_T->M 0.000798722 232 chr14:65289698:G:A 6987_115_39_L->F 0.000199681 232 chr14:65289773:G:A 6987_40_14_P->S 0.000199681 232 chr14:65289787:T:G 6987_26_9_N->T 0.00199681 232 na12878 Variants: 232 chr14:65253232:T:C 6987_3451_1151_N->D 232 chr14:65262126:C:T 6987_1573_525_E->K 232 chr14:65263300:C:T 6987_1316_439_S->N 232 snyder Variants: 232 chr14:65249066:C:T 6987_4208_1403_R->Q 232 chr14:65253232:T:C 6987_3451_1151_N->D 232 chr14:65263300:C:T 6987_1316_439_S->N 233 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070182_ENST00000556626 gene_Name: SPTB1_HUMAN 233 list of pdbs: 233 3F57 pdb_description: 24-Feb-09 X-ray 2.900 Crystal structure of human erythroid beta spectrin repeats 1 (ankyrin binding domain) 233 3EDU pdb_description: 10-Feb-09 X-ray 2.100 Crystal structure of the ankyrin-binding domain of human ery spectrin 233 1S35 pdb_description: 20-Apr-04 X-ray 2.400 Crystal structure of repeats 8 and 9 of human erythroid spectrin 233 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 233 3KBU pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank), emts derivativ 233 3KBT pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank) 233 Zimmer Variants: 233 chr14:65253232:T:C 6987_3451_1151_N->D 233 chr14:65263300:C:T 6987_1316_439_S->N 233 HGMD Variants: 233 chr14:65234395:C:A 6987_6205_2069_E->* 233 chr14:65236409:G:A 6987_5836_1946_Q->* 233 chr14:65239585:G:A 6987_5266_1756_R->* 233 chr14:65259848:G:A 6987_2533_845_Q->* 233 chr14:65262159:G:A 6987_1540_514_Q->* 233 chr14:65234409:C:G 6987_6191_2064_R->P 233 chr14:65234419:A:T 6987_6181_2061_W->R 233 chr14:65234443:C:G 6987_6157_2053_A->P 233 chr14:65234526:A:C 6987_6074_2025_L->R 233 chr14:65234530:A:T 6987_6070_2024_W->R 233 chr14:65234532:G:A 6987_6068_2023_A->V 233 chr14:65234545:A:G 6987_6055_2019_S->P 233 chr14:65234547:G:C 6987_6053_2018_A->G 233 chr14:65237750:G:A 6987_5651_1884_A->V 233 chr14:65240066:G:A 6987_5050_1684_R->C 233 chr14:65252552:G:A 6987_3679_1227_P->S 233 chr14:65268108:T:C 6987_658_220_I->V 233 chr14:65268515:A:G 6987_604_202_W->R 233 chr14:65268944:C:G 6987_566_189_G->A 233 chr14:65268966:A:C 6987_544_182_W->G 233 chr14:65271802:C:T 6987_155_52_R->Q 233 chr14:65289812:T:C 6987_1_1_M->V 233 oneKG Variants: 233 chr14:65239396:C:A 6987_5455_1819_E->* 0.000798722 233 chr14:65251051:G:A 6987_3916_1306_R->* 0.000199681 233 chr14:65216074:C:T 6987_6937_2313_G->S 0.000199681 233 chr14:65216076:A:G 6987_6935_2312_L->P 0.000199681 233 chr14:65216086:C:T 6987_6925_2309_D->N 0.000199681 233 chr14:65216382:C:T 6987_6809_2270_G->D 0.000199681 233 chr14:65216760:T:C 6987_6715_2239_R->G 0.000199681 233 chr14:65220272:G:T 6987_6585_2195_N->K 0.000199681 233 chr14:65220298:G:A 6987_6559_2187_R->C 0.000199681 233 chr14:65220339:C:T 6987_6518_2173_R->Q 0.000199681 233 chr14:65220342:G:A 6987_6515_2172_P->L 0.000399361 233 chr14:65220354:G:A 6987_6503_2168_T->M 0.000199681 233 chr14:65220361:G:C 6987_6496_2166_P->A 0.00239617 233 chr14:65220374:G:A,T 6987_6483_2161_S->R 0.00239617 233 chr14:65220384:G:A 6987_6473_2158_T->M 0.000199681 233 chr14:65220407:C:A 6987_6450_2150_E->D 0.000199681 233 chr14:65220462:G:A 6987_6395_2132_P->L 0.000199681 233 chr14:65220465:G:A 6987_6392_2131_P->L 0.000399361 233 chr14:65220496:T:C 6987_6361_2121_T->A 0.000199681 233 chr14:65234030:T:A 6987_6260_2087_E->V 0.000199681 233 chr14:65234430:G:T 6987_6170_2057_S->Y 0.000199681 233 chr14:65235758:G:A 6987_6016_2006_R->C 0.000199681 233 chr14:65235783:C:A 6987_5991_1997_K->N 0.000199681 233 chr14:65235830:C:T 6987_5944_1982_E->K 0.00159744 233 chr14:65235832:C:T 6987_5942_1981_R->H 0.0 233 chr14:65235833:G:C 6987_5941_1981_R->G 0.000199681 233 chr14:65236330:C:T 6987_5915_1972_R->Q 0.000199681 233 chr14:65236331:G:A 6987_5914_1972_R->W 0.000199681 233 chr14:65236349:C:T 6987_5896_1966_G->S 0.000199681 233 chr14:65236369:A:G 6987_5876_1959_F->S 0.000399361 233 chr14:65236390:A:G 6987_5855_1952_I->T 0.000399361 233 chr14:65237630:C:T 6987_5771_1924_R->Q 0.000199681 233 chr14:65237663:C:T 6987_5738_1913_R->H 0.000199681 233 chr14:65237675:A:G 6987_5726_1909_F->S 0.000998403 233 chr14:65237712:T:C 6987_5689_1897_T->A 0.000399361 233 chr14:65237721:C:T 6987_5680_1894_G->R 0.000199681 233 chr14:65237750:G:A 6987_5651_1884_A->V 0.00119808 233 chr14:65237765:T:C 6987_5636_1879_Q->R 0.000199681 233 chr14:65239323:C:T 6987_5528_1843_R->Q 0.00119808 233 chr14:65239357:C:T 6987_5494_1832_E->K 0.000199681 233 chr14:65239395:T:A 6987_5456_1819_E->V 0.000798722 233 chr14:65239399:G:A 6987_5452_1818_R->C 0.000399361 233 chr14:65239429:C:T 6987_5422_1808_E->K 0.000998403 233 chr14:65239633:C:T 6987_5218_1740_G->R 0.000199681 233 chr14:65239641:C:T 6987_5210_1737_R->Q 0.000199681 233 chr14:65239642:G:A 6987_5209_1737_R->W 0.000599042 233 chr14:65239943:C:T 6987_5173_1725_V->M 0.000599042 233 chr14:65239969:G:A 6987_5147_1716_P->L 0.000199681 233 chr14:65240015:C:T 6987_5101_1701_D->N 0.000199681 233 chr14:65240026:C:T 6987_5090_1697_R->Q 0.000199681 233 chr14:65240066:G:A 6987_5050_1684_R->C 0.00219649 233 chr14:65240084:C:T 6987_5032_1678_V->M 0.000199681 233 chr14:65240103:G:C 6987_5013_1671_H->Q 0.000199681 233 chr14:65241176:G:A 6987_4912_1638_R->W 0.000399361 233 chr14:65241196:C:T 6987_4892_1631_R->H 0.000399361 233 chr14:65241848:G:A 6987_4837_1613_P->S 0.00239617 233 chr14:65241868:T:G 6987_4817_1606_Y->S 0.000399361 233 chr14:65241911:C:A 6987_4774_1592_D->Y 0.000199681 233 chr14:65241914:G:T 6987_4771_1591_L->M 0.000199681 233 chr14:65241962:C:T 6987_4723_1575_G->R 0.000199681 233 chr14:65241976:C:T 6987_4709_1570_R->Q 0.000199681 233 chr14:65241986:C:G 6987_4699_1567_D->H 0.00279553 233 chr14:65241997:T:C 6987_4688_1563_Q->R 0.000199681 233 chr14:65242015:T:C 6987_4670_1557_E->G 0.000399361 233 chr14:65242090:G:A 6987_4595_1532_P->L 0.000399361 233 chr14:65245883:T:G 6987_4555_1519_K->Q 0.000199681 233 chr14:65245927:G:A 6987_4511_1504_A->V 0.000199681 233 chr14:65246463:G:A 6987_4453_1485_R->W 0.000199681 233 chr14:65246504:T:C 6987_4412_1471_K->R 0.000199681 233 chr14:65246540:C:T 6987_4376_1459_R->Q 0.000399361 233 chr14:65246634:C:T 6987_4282_1428_V->M 0.000199681 233 chr14:65249052:C:G 6987_4222_1408_G->R 0.101637 233 chr14:65249054:G:A 6987_4220_1407_P->L 0.000199681 233 chr14:65249066:C:T 6987_4208_1403_R->Q 0.0327476 233 chr14:65249092:C:A 6987_4182_1394_W->C 0.000399361 233 chr14:65249129:T:C 6987_4145_1382_D->G 0.000199681 233 chr14:65249147:G:A 6987_4127_1376_S->L 0.000399361 233 chr14:65249153:T:C 6987_4121_1374_H->R 0.0301518 233 chr14:65249198:C:T 6987_4076_1359_R->Q 0.000199681 233 chr14:65249199:G:A 6987_4075_1359_R->W 0.000998403 233 chr14:65250966:G:A 6987_4001_1334_A->V 0.000599042 233 chr14:65252304:A:T 6987_3806_1269_L->Q 0.000199681 233 chr14:65252552:G:A 6987_3679_1227_P->S 0.000599042 233 chr14:65252582:T:C 6987_3649_1217_M->V 0.000199681 233 chr14:65252663:T:C 6987_3568_1190_T->A 0.000199681 233 chr14:65253145:C:T 6987_3538_1180_A->T 0.000199681 233 chr14:65253232:T:C 6987_3451_1151_N->D 0.469449 233 chr14:65253247:G:T 6987_3436_1146_L->M 0.000199681 233 chr14:65253250:C:T 6987_3433_1145_G->S 0.000199681 233 chr14:65253258:C:T 6987_3425_1142_R->Q 0.000199681 233 chr14:65253288:G:A 6987_3395_1132_T->M 0.000199681 233 chr14:65253349:C:T 6987_3334_1112_G->R 0.00139776 233 chr14:65253391:G:T 6987_3292_1098_Q->K 0.000199681 233 chr14:65253400:C:T 6987_3283_1095_E->K 0.000199681 233 chr14:65253436:C:T 6987_3247_1083_A->T 0.000199681 233 chr14:65253450:G:A 6987_3233_1078_S->F 0.000998403 233 chr14:65253539:T:A 6987_3144_1048_Q->H 0.000199681 233 chr14:65253580:G:A 6987_3103_1035_R->W 0.00139776 233 chr14:65253612:G:A 6987_3071_1024_S->L 0.000199681 233 chr14:65253654:C:T 6987_3029_1010_R->H 0.000199681 233 chr14:65253679:G:C 6987_3004_1002_R->G 0.000599042 233 chr14:65253718:C:A 6987_2965_989_G->C 0.000199681 233 chr14:65253729:C:T 6987_2954_985_R->Q 0.000199681 233 chr14:65253730:G:A 6987_2953_985_R->W 0.000399361 233 chr14:65253732:C:T 6987_2951_984_G->E 0.000199681 233 chr14:65253802:C:T 6987_2881_961_V->I 0.00199681 233 chr14:65253805:A:G 6987_2878_960_C->R 0.000199681 233 chr14:65253819:C:T 6987_2864_955_R->Q 0.000199681 233 chr14:65253846:C:T 6987_2837_946_R->Q 0.000199681 233 chr14:65258480:G:T 6987_2761_921_R->S 0.000199681 233 chr14:65258545:G:A 6987_2696_899_T->I 0.000199681 233 chr14:65259725:C:A 6987_2656_886_V->L 0.000199681 233 chr14:65259788:C:T 6987_2593_865_G->R 0.000399361 233 chr14:65259901:C:T 6987_2480_827_R->Q 0.000599042 233 chr14:65259917:G:A 6987_2464_822_R->W 0.000199681 233 chr14:65259941:G:C 6987_2440_814_R->G 0.000399361 233 chr14:65259946:T:G 6987_2435_812_E->A 0.000199681 233 chr14:65259950:C:T 6987_2431_811_E->K 0.000998403 233 chr14:65259995:G:A 6987_2386_796_R->C 0.000199681 233 chr14:65260045:C:T 6987_2336_779_R->Q 0.000199681 233 chr14:65260046:G:A 6987_2335_779_R->W 0.000199681 233 chr14:65260058:C:T 6987_2323_775_E->K 0.000199681 233 chr14:65260078:C:T 6987_2303_768_G->D 0.00359425 233 chr14:65260168:T:C 6987_2213_738_N->S 0.000199681 233 chr14:65260231:C:T 6987_2150_717_R->H 0.000798722 233 chr14:65260232:G:A 6987_2149_717_R->C 0.000199681 233 chr14:65260264:C:T 6987_2117_706_R->H 0.000199681 233 chr14:65260265:G:A 6987_2116_706_R->C 0.000399361 233 chr14:65260321:C:T 6987_2060_687_R->H 0.00499201 233 chr14:65260543:C:A 6987_1838_613_S->I 0.00638978 233 chr14:65260549:C:T 6987_1832_611_R->H 0.000399361 233 chr14:65261215:C:T 6987_1765_589_A->T 0.00539137 233 chr14:65261283:A:T 6987_1697_566_L->Q 0.000199681 233 chr14:65261317:C:T 6987_1663_555_E->K 0.000199681 233 chr14:65261332:G:A 6987_1648_550_H->Y 0.000199681 233 chr14:65262093:C:T 6987_1606_536_D->N 0.000399361 233 chr14:65262096:G:T 6987_1603_535_Q->K 0.000199681 233 chr14:65262126:C:T 6987_1573_525_E->K 0.000199681 233 chr14:65262176:C:T 6987_1523_508_R->H 0.000998403 233 chr14:65262198:C:A 6987_1501_501_A->S 0.000199681 233 chr14:65262276:C:T 6987_1423_475_E->K 0.000199681 233 chr14:65262342:C:A 6987_1357_453_D->Y 0.000199681 233 chr14:65263300:C:T 6987_1316_439_S->N 0.466853 233 chr14:65263313:C:G 6987_1303_435_E->Q 0.000399361 233 chr14:65263340:G:A 6987_1276_426_R->C 0.000199681 233 chr14:65263343:G:A 6987_1273_425_R->W 0.000199681 233 chr14:65264514:C:T 6987_1115_372_R->Q 0.000399361 233 chr14:65266481:C:T 6987_1048_350_V->M 0.000399361 233 chr14:65266525:G:A 6987_1004_335_T->M 0.000399361 233 chr14:65266547:G:A 6987_982_328_R->C 0.000199681 233 chr14:65266565:T:C 6987_964_322_I->V 0.000199681 233 chr14:65266606:C:T 6987_923_308_S->N 0.000599042 233 chr14:65268027:T:C 6987_739_247_I->V 0.000199681 233 chr14:65268057:C:T 6987_709_237_A->T 0.000199681 233 chr14:65268950:G:A 6987_560_187_T->M 0.000199681 233 chr14:65270369:G:A 6987_430_144_R->C 0.000199681 233 chr14:65271700:C:T 6987_257_86_R->H 0.000399361 233 chr14:65271737:G:A 6987_220_74_R->C 0.000199681 233 chr14:65271746:C:T 6987_211_71_V->M 0.000199681 233 chr14:65271775:G:A 6987_182_61_T->M 0.000798722 233 chr14:65289698:G:A 6987_115_39_L->F 0.000199681 233 chr14:65289773:G:A 6987_40_14_P->S 0.000199681 233 chr14:65289787:T:G 6987_26_9_N->T 0.00199681 233 na12878 Variants: 233 chr14:65253232:T:C 6987_3451_1151_N->D 233 chr14:65262126:C:T 6987_1573_525_E->K 233 chr14:65263300:C:T 6987_1316_439_S->N 233 snyder Variants: 233 chr14:65249066:C:T 6987_4208_1403_R->Q 233 chr14:65253232:T:C 6987_3451_1151_N->D 233 chr14:65263300:C:T 6987_1316_439_S->N 234 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070182_ENST00000389721 gene_Name: SPTB1_HUMAN 234 list of pdbs: 234 3F57 pdb_description: 24-Feb-09 X-ray 2.900 Crystal structure of human erythroid beta spectrin repeats 1 (ankyrin binding domain) 234 3EDU pdb_description: 10-Feb-09 X-ray 2.100 Crystal structure of the ankyrin-binding domain of human ery spectrin 234 1S35 pdb_description: 20-Apr-04 X-ray 2.400 Crystal structure of repeats 8 and 9 of human erythroid spectrin 234 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 234 3KBU pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank), emts derivativ 234 3KBT pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank) 234 Zimmer Variants: 234 chr14:65253232:T:C 6414_3451_1151_N->D 234 chr14:65263300:C:T 6414_1316_439_S->N 234 HGMD Variants: 234 chr14:65234395:C:A 6414_6205_2069_E->* 234 chr14:65236409:G:A 6414_5836_1946_Q->* 234 chr14:65239585:G:A 6414_5266_1756_R->* 234 chr14:65259848:G:A 6414_2533_845_Q->* 234 chr14:65262159:G:A 6414_1540_514_Q->* 234 chr14:65234409:C:G 6414_6191_2064_R->P 234 chr14:65234419:A:T 6414_6181_2061_W->R 234 chr14:65234443:C:G 6414_6157_2053_A->P 234 chr14:65234526:A:C 6414_6074_2025_L->R 234 chr14:65234530:A:T 6414_6070_2024_W->R 234 chr14:65234532:G:A 6414_6068_2023_A->V 234 chr14:65234545:A:G 6414_6055_2019_S->P 234 chr14:65234547:G:C 6414_6053_2018_A->G 234 chr14:65237750:G:A 6414_5651_1884_A->V 234 chr14:65240066:G:A 6414_5050_1684_R->C 234 chr14:65252552:G:A 6414_3679_1227_P->S 234 chr14:65268108:T:C 6414_658_220_I->V 234 chr14:65268515:A:G 6414_604_202_W->R 234 chr14:65268944:C:G 6414_566_189_G->A 234 chr14:65268966:A:C 6414_544_182_W->G 234 chr14:65271802:C:T 6414_155_52_R->Q 234 chr14:65289812:T:C 6414_1_1_M->V 234 oneKG Variants: 234 chr14:65239396:C:A 6414_5455_1819_E->* 0.000798722 234 chr14:65251051:G:A 6414_3916_1306_R->* 0.000199681 234 chr14:65233425:A:T 6414_6364_2122_L->M 0.000798722 234 chr14:65234030:T:A 6414_6260_2087_E->V 0.000199681 234 chr14:65234430:G:T 6414_6170_2057_S->Y 0.000199681 234 chr14:65235758:G:A 6414_6016_2006_R->C 0.000199681 234 chr14:65235783:C:A 6414_5991_1997_K->N 0.000199681 234 chr14:65235830:C:T 6414_5944_1982_E->K 0.00159744 234 chr14:65235832:C:T 6414_5942_1981_R->H 0.0 234 chr14:65235833:G:C 6414_5941_1981_R->G 0.000199681 234 chr14:65236330:C:T 6414_5915_1972_R->Q 0.000199681 234 chr14:65236331:G:A 6414_5914_1972_R->W 0.000199681 234 chr14:65236349:C:T 6414_5896_1966_G->S 0.000199681 234 chr14:65236369:A:G 6414_5876_1959_F->S 0.000399361 234 chr14:65236390:A:G 6414_5855_1952_I->T 0.000399361 234 chr14:65237630:C:T 6414_5771_1924_R->Q 0.000199681 234 chr14:65237663:C:T 6414_5738_1913_R->H 0.000199681 234 chr14:65237675:A:G 6414_5726_1909_F->S 0.000998403 234 chr14:65237712:T:C 6414_5689_1897_T->A 0.000399361 234 chr14:65237721:C:T 6414_5680_1894_G->R 0.000199681 234 chr14:65237750:G:A 6414_5651_1884_A->V 0.00119808 234 chr14:65237765:T:C 6414_5636_1879_Q->R 0.000199681 234 chr14:65239323:C:T 6414_5528_1843_R->Q 0.00119808 234 chr14:65239357:C:T 6414_5494_1832_E->K 0.000199681 234 chr14:65239395:T:A 6414_5456_1819_E->V 0.000798722 234 chr14:65239399:G:A 6414_5452_1818_R->C 0.000399361 234 chr14:65239429:C:T 6414_5422_1808_E->K 0.000998403 234 chr14:65239633:C:T 6414_5218_1740_G->R 0.000199681 234 chr14:65239641:C:T 6414_5210_1737_R->Q 0.000199681 234 chr14:65239642:G:A 6414_5209_1737_R->W 0.000599042 234 chr14:65239943:C:T 6414_5173_1725_V->M 0.000599042 234 chr14:65239969:G:A 6414_5147_1716_P->L 0.000199681 234 chr14:65240015:C:T 6414_5101_1701_D->N 0.000199681 234 chr14:65240026:C:T 6414_5090_1697_R->Q 0.000199681 234 chr14:65240066:G:A 6414_5050_1684_R->C 0.00219649 234 chr14:65240084:C:T 6414_5032_1678_V->M 0.000199681 234 chr14:65240103:G:C 6414_5013_1671_H->Q 0.000199681 234 chr14:65241176:G:A 6414_4912_1638_R->W 0.000399361 234 chr14:65241196:C:T 6414_4892_1631_R->H 0.000399361 234 chr14:65241848:G:A 6414_4837_1613_P->S 0.00239617 234 chr14:65241868:T:G 6414_4817_1606_Y->S 0.000399361 234 chr14:65241911:C:A 6414_4774_1592_D->Y 0.000199681 234 chr14:65241914:G:T 6414_4771_1591_L->M 0.000199681 234 chr14:65241962:C:T 6414_4723_1575_G->R 0.000199681 234 chr14:65241976:C:T 6414_4709_1570_R->Q 0.000199681 234 chr14:65241986:C:G 6414_4699_1567_D->H 0.00279553 234 chr14:65241997:T:C 6414_4688_1563_Q->R 0.000199681 234 chr14:65242015:T:C 6414_4670_1557_E->G 0.000399361 234 chr14:65242090:G:A 6414_4595_1532_P->L 0.000399361 234 chr14:65245883:T:G 6414_4555_1519_K->Q 0.000199681 234 chr14:65245927:G:A 6414_4511_1504_A->V 0.000199681 234 chr14:65246463:G:A 6414_4453_1485_R->W 0.000199681 234 chr14:65246504:T:C 6414_4412_1471_K->R 0.000199681 234 chr14:65246540:C:T 6414_4376_1459_R->Q 0.000399361 234 chr14:65246634:C:T 6414_4282_1428_V->M 0.000199681 234 chr14:65249052:C:G 6414_4222_1408_G->R 0.101637 234 chr14:65249054:G:A 6414_4220_1407_P->L 0.000199681 234 chr14:65249066:C:T 6414_4208_1403_R->Q 0.0327476 234 chr14:65249092:C:A 6414_4182_1394_W->C 0.000399361 234 chr14:65249129:T:C 6414_4145_1382_D->G 0.000199681 234 chr14:65249147:G:A 6414_4127_1376_S->L 0.000399361 234 chr14:65249153:T:C 6414_4121_1374_H->R 0.0301518 234 chr14:65249198:C:T 6414_4076_1359_R->Q 0.000199681 234 chr14:65249199:G:A 6414_4075_1359_R->W 0.000998403 234 chr14:65250966:G:A 6414_4001_1334_A->V 0.000599042 234 chr14:65252304:A:T 6414_3806_1269_L->Q 0.000199681 234 chr14:65252552:G:A 6414_3679_1227_P->S 0.000599042 234 chr14:65252582:T:C 6414_3649_1217_M->V 0.000199681 234 chr14:65252663:T:C 6414_3568_1190_T->A 0.000199681 234 chr14:65253145:C:T 6414_3538_1180_A->T 0.000199681 234 chr14:65253232:T:C 6414_3451_1151_N->D 0.469449 234 chr14:65253247:G:T 6414_3436_1146_L->M 0.000199681 234 chr14:65253250:C:T 6414_3433_1145_G->S 0.000199681 234 chr14:65253258:C:T 6414_3425_1142_R->Q 0.000199681 234 chr14:65253288:G:A 6414_3395_1132_T->M 0.000199681 234 chr14:65253349:C:T 6414_3334_1112_G->R 0.00139776 234 chr14:65253391:G:T 6414_3292_1098_Q->K 0.000199681 234 chr14:65253400:C:T 6414_3283_1095_E->K 0.000199681 234 chr14:65253436:C:T 6414_3247_1083_A->T 0.000199681 234 chr14:65253450:G:A 6414_3233_1078_S->F 0.000998403 234 chr14:65253539:T:A 6414_3144_1048_Q->H 0.000199681 234 chr14:65253580:G:A 6414_3103_1035_R->W 0.00139776 234 chr14:65253612:G:A 6414_3071_1024_S->L 0.000199681 234 chr14:65253654:C:T 6414_3029_1010_R->H 0.000199681 234 chr14:65253679:G:C 6414_3004_1002_R->G 0.000599042 234 chr14:65253718:C:A 6414_2965_989_G->C 0.000199681 234 chr14:65253729:C:T 6414_2954_985_R->Q 0.000199681 234 chr14:65253730:G:A 6414_2953_985_R->W 0.000399361 234 chr14:65253732:C:T 6414_2951_984_G->E 0.000199681 234 chr14:65253802:C:T 6414_2881_961_V->I 0.00199681 234 chr14:65253805:A:G 6414_2878_960_C->R 0.000199681 234 chr14:65253819:C:T 6414_2864_955_R->Q 0.000199681 234 chr14:65253846:C:T 6414_2837_946_R->Q 0.000199681 234 chr14:65258480:G:T 6414_2761_921_R->S 0.000199681 234 chr14:65258545:G:A 6414_2696_899_T->I 0.000199681 234 chr14:65259725:C:A 6414_2656_886_V->L 0.000199681 234 chr14:65259788:C:T 6414_2593_865_G->R 0.000399361 234 chr14:65259901:C:T 6414_2480_827_R->Q 0.000599042 234 chr14:65259917:G:A 6414_2464_822_R->W 0.000199681 234 chr14:65259941:G:C 6414_2440_814_R->G 0.000399361 234 chr14:65259946:T:G 6414_2435_812_E->A 0.000199681 234 chr14:65259950:C:T 6414_2431_811_E->K 0.000998403 234 chr14:65259995:G:A 6414_2386_796_R->C 0.000199681 234 chr14:65260045:C:T 6414_2336_779_R->Q 0.000199681 234 chr14:65260046:G:A 6414_2335_779_R->W 0.000199681 234 chr14:65260058:C:T 6414_2323_775_E->K 0.000199681 234 chr14:65260078:C:T 6414_2303_768_G->D 0.00359425 234 chr14:65260168:T:C 6414_2213_738_N->S 0.000199681 234 chr14:65260231:C:T 6414_2150_717_R->H 0.000798722 234 chr14:65260232:G:A 6414_2149_717_R->C 0.000199681 234 chr14:65260264:C:T 6414_2117_706_R->H 0.000199681 234 chr14:65260265:G:A 6414_2116_706_R->C 0.000399361 234 chr14:65260321:C:T 6414_2060_687_R->H 0.00499201 234 chr14:65260543:C:A 6414_1838_613_S->I 0.00638978 234 chr14:65260549:C:T 6414_1832_611_R->H 0.000399361 234 chr14:65261215:C:T 6414_1765_589_A->T 0.00539137 234 chr14:65261283:A:T 6414_1697_566_L->Q 0.000199681 234 chr14:65261317:C:T 6414_1663_555_E->K 0.000199681 234 chr14:65261332:G:A 6414_1648_550_H->Y 0.000199681 234 chr14:65262093:C:T 6414_1606_536_D->N 0.000399361 234 chr14:65262096:G:T 6414_1603_535_Q->K 0.000199681 234 chr14:65262126:C:T 6414_1573_525_E->K 0.000199681 234 chr14:65262176:C:T 6414_1523_508_R->H 0.000998403 234 chr14:65262198:C:A 6414_1501_501_A->S 0.000199681 234 chr14:65262276:C:T 6414_1423_475_E->K 0.000199681 234 chr14:65262342:C:A 6414_1357_453_D->Y 0.000199681 234 chr14:65263300:C:T 6414_1316_439_S->N 0.466853 234 chr14:65263313:C:G 6414_1303_435_E->Q 0.000399361 234 chr14:65263340:G:A 6414_1276_426_R->C 0.000199681 234 chr14:65263343:G:A 6414_1273_425_R->W 0.000199681 234 chr14:65264514:C:T 6414_1115_372_R->Q 0.000399361 234 chr14:65266481:C:T 6414_1048_350_V->M 0.000399361 234 chr14:65266525:G:A 6414_1004_335_T->M 0.000399361 234 chr14:65266547:G:A 6414_982_328_R->C 0.000199681 234 chr14:65266565:T:C 6414_964_322_I->V 0.000199681 234 chr14:65266606:C:T 6414_923_308_S->N 0.000599042 234 chr14:65268027:T:C 6414_739_247_I->V 0.000199681 234 chr14:65268057:C:T 6414_709_237_A->T 0.000199681 234 chr14:65268950:G:A 6414_560_187_T->M 0.000199681 234 chr14:65270369:G:A 6414_430_144_R->C 0.000199681 234 chr14:65271700:C:T 6414_257_86_R->H 0.000399361 234 chr14:65271737:G:A 6414_220_74_R->C 0.000199681 234 chr14:65271746:C:T 6414_211_71_V->M 0.000199681 234 chr14:65271775:G:A 6414_182_61_T->M 0.000798722 234 chr14:65289698:G:A 6414_115_39_L->F 0.000199681 234 chr14:65289773:G:A 6414_40_14_P->S 0.000199681 234 chr14:65289787:T:G 6414_26_9_N->T 0.00199681 234 na12878 Variants: 234 chr14:65253232:T:C 6414_3451_1151_N->D 234 chr14:65262126:C:T 6414_1573_525_E->K 234 chr14:65263300:C:T 6414_1316_439_S->N 234 snyder Variants: 234 chr14:65249066:C:T 6414_4208_1403_R->Q 234 chr14:65253232:T:C 6414_3451_1151_N->D 234 chr14:65263300:C:T 6414_1316_439_S->N 235 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070182_ENST00000542895 gene_Name: SPTB1_HUMAN 235 list of pdbs: 235 3F57 pdb_description: 24-Feb-09 X-ray 2.900 Crystal structure of human erythroid beta spectrin repeats 1 (ankyrin binding domain) 235 3EDU pdb_description: 10-Feb-09 X-ray 2.100 Crystal structure of the ankyrin-binding domain of human ery spectrin 235 1S35 pdb_description: 20-Apr-04 X-ray 2.400 Crystal structure of repeats 8 and 9 of human erythroid spectrin 235 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 235 3KBU pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank), emts derivativ 235 3KBT pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank) 235 Zimmer Variants: 235 chr14:65253232:T:C 6414_3451_1151_N->D 235 chr14:65263300:C:T 6414_1316_439_S->N 235 HGMD Variants: 235 chr14:65234395:C:A 6414_6205_2069_E->* 235 chr14:65236409:G:A 6414_5836_1946_Q->* 235 chr14:65239585:G:A 6414_5266_1756_R->* 235 chr14:65259848:G:A 6414_2533_845_Q->* 235 chr14:65262159:G:A 6414_1540_514_Q->* 235 chr14:65234409:C:G 6414_6191_2064_R->P 235 chr14:65234419:A:T 6414_6181_2061_W->R 235 chr14:65234443:C:G 6414_6157_2053_A->P 235 chr14:65234526:A:C 6414_6074_2025_L->R 235 chr14:65234530:A:T 6414_6070_2024_W->R 235 chr14:65234532:G:A 6414_6068_2023_A->V 235 chr14:65234545:A:G 6414_6055_2019_S->P 235 chr14:65234547:G:C 6414_6053_2018_A->G 235 chr14:65237750:G:A 6414_5651_1884_A->V 235 chr14:65240066:G:A 6414_5050_1684_R->C 235 chr14:65252552:G:A 6414_3679_1227_P->S 235 chr14:65268108:T:C 6414_658_220_I->V 235 chr14:65268515:A:G 6414_604_202_W->R 235 chr14:65268944:C:G 6414_566_189_G->A 235 chr14:65268966:A:C 6414_544_182_W->G 235 chr14:65271802:C:T 6414_155_52_R->Q 235 chr14:65289812:T:C 6414_1_1_M->V 235 oneKG Variants: 235 chr14:65239396:C:A 6414_5455_1819_E->* 0.000798722 235 chr14:65251051:G:A 6414_3916_1306_R->* 0.000199681 235 chr14:65233425:A:T 6414_6364_2122_L->M 0.000798722 235 chr14:65234030:T:A 6414_6260_2087_E->V 0.000199681 235 chr14:65234430:G:T 6414_6170_2057_S->Y 0.000199681 235 chr14:65235758:G:A 6414_6016_2006_R->C 0.000199681 235 chr14:65235783:C:A 6414_5991_1997_K->N 0.000199681 235 chr14:65235830:C:T 6414_5944_1982_E->K 0.00159744 235 chr14:65235832:C:T 6414_5942_1981_R->H 0.0 235 chr14:65235833:G:C 6414_5941_1981_R->G 0.000199681 235 chr14:65236330:C:T 6414_5915_1972_R->Q 0.000199681 235 chr14:65236331:G:A 6414_5914_1972_R->W 0.000199681 235 chr14:65236349:C:T 6414_5896_1966_G->S 0.000199681 235 chr14:65236369:A:G 6414_5876_1959_F->S 0.000399361 235 chr14:65236390:A:G 6414_5855_1952_I->T 0.000399361 235 chr14:65237630:C:T 6414_5771_1924_R->Q 0.000199681 235 chr14:65237663:C:T 6414_5738_1913_R->H 0.000199681 235 chr14:65237675:A:G 6414_5726_1909_F->S 0.000998403 235 chr14:65237712:T:C 6414_5689_1897_T->A 0.000399361 235 chr14:65237721:C:T 6414_5680_1894_G->R 0.000199681 235 chr14:65237750:G:A 6414_5651_1884_A->V 0.00119808 235 chr14:65237765:T:C 6414_5636_1879_Q->R 0.000199681 235 chr14:65239323:C:T 6414_5528_1843_R->Q 0.00119808 235 chr14:65239357:C:T 6414_5494_1832_E->K 0.000199681 235 chr14:65239395:T:A 6414_5456_1819_E->V 0.000798722 235 chr14:65239399:G:A 6414_5452_1818_R->C 0.000399361 235 chr14:65239429:C:T 6414_5422_1808_E->K 0.000998403 235 chr14:65239633:C:T 6414_5218_1740_G->R 0.000199681 235 chr14:65239641:C:T 6414_5210_1737_R->Q 0.000199681 235 chr14:65239642:G:A 6414_5209_1737_R->W 0.000599042 235 chr14:65239943:C:T 6414_5173_1725_V->M 0.000599042 235 chr14:65239969:G:A 6414_5147_1716_P->L 0.000199681 235 chr14:65240015:C:T 6414_5101_1701_D->N 0.000199681 235 chr14:65240026:C:T 6414_5090_1697_R->Q 0.000199681 235 chr14:65240066:G:A 6414_5050_1684_R->C 0.00219649 235 chr14:65240084:C:T 6414_5032_1678_V->M 0.000199681 235 chr14:65240103:G:C 6414_5013_1671_H->Q 0.000199681 235 chr14:65241176:G:A 6414_4912_1638_R->W 0.000399361 235 chr14:65241196:C:T 6414_4892_1631_R->H 0.000399361 235 chr14:65241848:G:A 6414_4837_1613_P->S 0.00239617 235 chr14:65241868:T:G 6414_4817_1606_Y->S 0.000399361 235 chr14:65241911:C:A 6414_4774_1592_D->Y 0.000199681 235 chr14:65241914:G:T 6414_4771_1591_L->M 0.000199681 235 chr14:65241962:C:T 6414_4723_1575_G->R 0.000199681 235 chr14:65241976:C:T 6414_4709_1570_R->Q 0.000199681 235 chr14:65241986:C:G 6414_4699_1567_D->H 0.00279553 235 chr14:65241997:T:C 6414_4688_1563_Q->R 0.000199681 235 chr14:65242015:T:C 6414_4670_1557_E->G 0.000399361 235 chr14:65242090:G:A 6414_4595_1532_P->L 0.000399361 235 chr14:65245883:T:G 6414_4555_1519_K->Q 0.000199681 235 chr14:65245927:G:A 6414_4511_1504_A->V 0.000199681 235 chr14:65246463:G:A 6414_4453_1485_R->W 0.000199681 235 chr14:65246504:T:C 6414_4412_1471_K->R 0.000199681 235 chr14:65246540:C:T 6414_4376_1459_R->Q 0.000399361 235 chr14:65246634:C:T 6414_4282_1428_V->M 0.000199681 235 chr14:65249052:C:G 6414_4222_1408_G->R 0.101637 235 chr14:65249054:G:A 6414_4220_1407_P->L 0.000199681 235 chr14:65249066:C:T 6414_4208_1403_R->Q 0.0327476 235 chr14:65249092:C:A 6414_4182_1394_W->C 0.000399361 235 chr14:65249129:T:C 6414_4145_1382_D->G 0.000199681 235 chr14:65249147:G:A 6414_4127_1376_S->L 0.000399361 235 chr14:65249153:T:C 6414_4121_1374_H->R 0.0301518 235 chr14:65249198:C:T 6414_4076_1359_R->Q 0.000199681 235 chr14:65249199:G:A 6414_4075_1359_R->W 0.000998403 235 chr14:65250966:G:A 6414_4001_1334_A->V 0.000599042 235 chr14:65252304:A:T 6414_3806_1269_L->Q 0.000199681 235 chr14:65252552:G:A 6414_3679_1227_P->S 0.000599042 235 chr14:65252582:T:C 6414_3649_1217_M->V 0.000199681 235 chr14:65252663:T:C 6414_3568_1190_T->A 0.000199681 235 chr14:65253145:C:T 6414_3538_1180_A->T 0.000199681 235 chr14:65253232:T:C 6414_3451_1151_N->D 0.469449 235 chr14:65253247:G:T 6414_3436_1146_L->M 0.000199681 235 chr14:65253250:C:T 6414_3433_1145_G->S 0.000199681 235 chr14:65253258:C:T 6414_3425_1142_R->Q 0.000199681 235 chr14:65253288:G:A 6414_3395_1132_T->M 0.000199681 235 chr14:65253349:C:T 6414_3334_1112_G->R 0.00139776 235 chr14:65253391:G:T 6414_3292_1098_Q->K 0.000199681 235 chr14:65253400:C:T 6414_3283_1095_E->K 0.000199681 235 chr14:65253436:C:T 6414_3247_1083_A->T 0.000199681 235 chr14:65253450:G:A 6414_3233_1078_S->F 0.000998403 235 chr14:65253539:T:A 6414_3144_1048_Q->H 0.000199681 235 chr14:65253580:G:A 6414_3103_1035_R->W 0.00139776 235 chr14:65253612:G:A 6414_3071_1024_S->L 0.000199681 235 chr14:65253654:C:T 6414_3029_1010_R->H 0.000199681 235 chr14:65253679:G:C 6414_3004_1002_R->G 0.000599042 235 chr14:65253718:C:A 6414_2965_989_G->C 0.000199681 235 chr14:65253729:C:T 6414_2954_985_R->Q 0.000199681 235 chr14:65253730:G:A 6414_2953_985_R->W 0.000399361 235 chr14:65253732:C:T 6414_2951_984_G->E 0.000199681 235 chr14:65253802:C:T 6414_2881_961_V->I 0.00199681 235 chr14:65253805:A:G 6414_2878_960_C->R 0.000199681 235 chr14:65253819:C:T 6414_2864_955_R->Q 0.000199681 235 chr14:65253846:C:T 6414_2837_946_R->Q 0.000199681 235 chr14:65258480:G:T 6414_2761_921_R->S 0.000199681 235 chr14:65258545:G:A 6414_2696_899_T->I 0.000199681 235 chr14:65259725:C:A 6414_2656_886_V->L 0.000199681 235 chr14:65259788:C:T 6414_2593_865_G->R 0.000399361 235 chr14:65259901:C:T 6414_2480_827_R->Q 0.000599042 235 chr14:65259917:G:A 6414_2464_822_R->W 0.000199681 235 chr14:65259941:G:C 6414_2440_814_R->G 0.000399361 235 chr14:65259946:T:G 6414_2435_812_E->A 0.000199681 235 chr14:65259950:C:T 6414_2431_811_E->K 0.000998403 235 chr14:65259995:G:A 6414_2386_796_R->C 0.000199681 235 chr14:65260045:C:T 6414_2336_779_R->Q 0.000199681 235 chr14:65260046:G:A 6414_2335_779_R->W 0.000199681 235 chr14:65260058:C:T 6414_2323_775_E->K 0.000199681 235 chr14:65260078:C:T 6414_2303_768_G->D 0.00359425 235 chr14:65260168:T:C 6414_2213_738_N->S 0.000199681 235 chr14:65260231:C:T 6414_2150_717_R->H 0.000798722 235 chr14:65260232:G:A 6414_2149_717_R->C 0.000199681 235 chr14:65260264:C:T 6414_2117_706_R->H 0.000199681 235 chr14:65260265:G:A 6414_2116_706_R->C 0.000399361 235 chr14:65260321:C:T 6414_2060_687_R->H 0.00499201 235 chr14:65260543:C:A 6414_1838_613_S->I 0.00638978 235 chr14:65260549:C:T 6414_1832_611_R->H 0.000399361 235 chr14:65261215:C:T 6414_1765_589_A->T 0.00539137 235 chr14:65261283:A:T 6414_1697_566_L->Q 0.000199681 235 chr14:65261317:C:T 6414_1663_555_E->K 0.000199681 235 chr14:65261332:G:A 6414_1648_550_H->Y 0.000199681 235 chr14:65262093:C:T 6414_1606_536_D->N 0.000399361 235 chr14:65262096:G:T 6414_1603_535_Q->K 0.000199681 235 chr14:65262126:C:T 6414_1573_525_E->K 0.000199681 235 chr14:65262176:C:T 6414_1523_508_R->H 0.000998403 235 chr14:65262198:C:A 6414_1501_501_A->S 0.000199681 235 chr14:65262276:C:T 6414_1423_475_E->K 0.000199681 235 chr14:65262342:C:A 6414_1357_453_D->Y 0.000199681 235 chr14:65263300:C:T 6414_1316_439_S->N 0.466853 235 chr14:65263313:C:G 6414_1303_435_E->Q 0.000399361 235 chr14:65263340:G:A 6414_1276_426_R->C 0.000199681 235 chr14:65263343:G:A 6414_1273_425_R->W 0.000199681 235 chr14:65264514:C:T 6414_1115_372_R->Q 0.000399361 235 chr14:65266481:C:T 6414_1048_350_V->M 0.000399361 235 chr14:65266525:G:A 6414_1004_335_T->M 0.000399361 235 chr14:65266547:G:A 6414_982_328_R->C 0.000199681 235 chr14:65266565:T:C 6414_964_322_I->V 0.000199681 235 chr14:65266606:C:T 6414_923_308_S->N 0.000599042 235 chr14:65268027:T:C 6414_739_247_I->V 0.000199681 235 chr14:65268057:C:T 6414_709_237_A->T 0.000199681 235 chr14:65268950:G:A 6414_560_187_T->M 0.000199681 235 chr14:65270369:G:A 6414_430_144_R->C 0.000199681 235 chr14:65271700:C:T 6414_257_86_R->H 0.000399361 235 chr14:65271737:G:A 6414_220_74_R->C 0.000199681 235 chr14:65271746:C:T 6414_211_71_V->M 0.000199681 235 chr14:65271775:G:A 6414_182_61_T->M 0.000798722 235 chr14:65289698:G:A 6414_115_39_L->F 0.000199681 235 chr14:65289773:G:A 6414_40_14_P->S 0.000199681 235 chr14:65289787:T:G 6414_26_9_N->T 0.00199681 235 na12878 Variants: 235 chr14:65253232:T:C 6414_3451_1151_N->D 235 chr14:65262126:C:T 6414_1573_525_E->K 235 chr14:65263300:C:T 6414_1316_439_S->N 235 snyder Variants: 235 chr14:65249066:C:T 6414_4208_1403_R->Q 235 chr14:65253232:T:C 6414_3451_1151_N->D 235 chr14:65263300:C:T 6414_1316_439_S->N 236 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070182_ENST00000389720 gene_Name: SPTB1_HUMAN 236 list of pdbs: 236 3F57 pdb_description: 24-Feb-09 X-ray 2.900 Crystal structure of human erythroid beta spectrin repeats 1 (ankyrin binding domain) 236 3EDU pdb_description: 10-Feb-09 X-ray 2.100 Crystal structure of the ankyrin-binding domain of human ery spectrin 236 1S35 pdb_description: 20-Apr-04 X-ray 2.400 Crystal structure of repeats 8 and 9 of human erythroid spectrin 236 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 236 3KBU pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank), emts derivativ 236 3KBT pdb_description: 02-Feb-10 X-ray 2.750 Crystal structure of the ankyrin binding domain of human ery beta spectrin (repeats 13-15) in complex with the spectrin domain of human erythroid ankyrin (zu5-ank) 236 Zimmer Variants: 236 chr14:65253232:T:C 6321_3451_1151_N->D;GNEG=Yes;GENE=SPTB;CDSS=3 236 chr14:65263300:C:T 6321_1316_439_S->N;GNEG=Yes;GENE=SPTB;CDSS=2 236 HGMD Variants: 236 chr14:65234395:C:A 6321_6205_2069_E->* 236 chr14:65236409:G:A 6321_5836_1946_Q->* 236 chr14:65239585:G:A 6321_5266_1756_R->* 236 chr14:65259848:G:A 6321_2533_845_Q->* 236 chr14:65262159:G:A 6321_1540_514_Q->* 236 chr14:65234409:C:G 6321_6191_2064_R->P 236 chr14:65234419:A:T 6321_6181_2061_W->R 236 chr14:65234443:C:G 6321_6157_2053_A->P 236 chr14:65234526:A:C 6321_6074_2025_L->R 236 chr14:65234530:A:T 6321_6070_2024_W->R 236 chr14:65234532:G:A 6321_6068_2023_A->V 236 chr14:65234545:A:G 6321_6055_2019_S->P 236 chr14:65234547:G:C 6321_6053_2018_A->G 236 chr14:65237750:G:A 6321_5651_1884_A->V 236 chr14:65240066:G:A 6321_5050_1684_R->C 236 chr14:65252552:G:A 6321_3679_1227_P->S 236 chr14:65268108:T:C 6321_658_220_I->V 236 chr14:65268515:A:G 6321_604_202_W->R 236 chr14:65268944:C:G 6321_566_189_G->A 236 chr14:65268966:A:C 6321_544_182_W->G 236 chr14:65271802:C:T 6321_155_52_R->Q 236 chr14:65289812:T:C 6321_1_1_M->V 236 oneKG Variants: 236 chr14:65239396:C:A 6321_5455_1819_E->* 0.000798722 236 chr14:65251051:G:A 6321_3916_1306_R->* 0.000199681 236 chr14:65233425:A:T 6321_6314_2105_F->Y 0.000798722 236 chr14:65233438:A:G 6321_6301_2101_S->P,1 0.000199681 236 chr14:65234430:G:T 6321_6170_2057_S->Y 0.000199681 236 chr14:65235758:G:A 6321_6016_2006_R->C 0.000199681 236 chr14:65235783:C:A 6321_5991_1997_K->N 0.000199681 236 chr14:65235830:C:T 6321_5944_1982_E->K 0.00159744 236 chr14:65235832:C:T 6321_5942_1981_R->H 0.0 236 chr14:65235833:G:C 6321_5941_1981_R->G 0.000199681 236 chr14:65236330:C:T 6321_5915_1972_R->Q 0.000199681 236 chr14:65236331:G:A 6321_5914_1972_R->W 0.000199681 236 chr14:65236349:C:T 6321_5896_1966_G->S 0.000199681 236 chr14:65236369:A:G 6321_5876_1959_F->S 0.000399361 236 chr14:65236390:A:G 6321_5855_1952_I->T 0.000399361 236 chr14:65237630:C:T 6321_5771_1924_R->Q 0.000199681 236 chr14:65237663:C:T 6321_5738_1913_R->H 0.000199681 236 chr14:65237675:A:G 6321_5726_1909_F->S 0.000998403 236 chr14:65237712:T:C 6321_5689_1897_T->A 0.000399361 236 chr14:65237721:C:T 6321_5680_1894_G->R 0.000199681 236 chr14:65237750:G:A 6321_5651_1884_A->V 0.00119808 236 chr14:65237765:T:C 6321_5636_1879_Q->R 0.000199681 236 chr14:65239323:C:T 6321_5528_1843_R->Q 0.00119808 236 chr14:65239357:C:T 6321_5494_1832_E->K 0.000199681 236 chr14:65239395:T:A 6321_5456_1819_E->V 0.000798722 236 chr14:65239399:G:A 6321_5452_1818_R->C 0.000399361 236 chr14:65239429:C:T 6321_5422_1808_E->K 0.000998403 236 chr14:65239633:C:T 6321_5218_1740_G->R 0.000199681 236 chr14:65239641:C:T 6321_5210_1737_R->Q 0.000199681 236 chr14:65239642:G:A 6321_5209_1737_R->W 0.000599042 236 chr14:65239943:C:T 6321_5173_1725_V->M 0.000599042 236 chr14:65239969:G:A 6321_5147_1716_P->L 0.000199681 236 chr14:65240015:C:T 6321_5101_1701_D->N 0.000199681 236 chr14:65240026:C:T 6321_5090_1697_R->Q 0.000199681 236 chr14:65240066:G:A 6321_5050_1684_R->C 0.00219649 236 chr14:65240084:C:T 6321_5032_1678_V->M 0.000199681 236 chr14:65240103:G:C 6321_5013_1671_H->Q 0.000199681 236 chr14:65241176:G:A 6321_4912_1638_R->W 0.000399361 236 chr14:65241196:C:T 6321_4892_1631_R->H 0.000399361 236 chr14:65241848:G:A 6321_4837_1613_P->S 0.00239617 236 chr14:65241868:T:G 6321_4817_1606_Y->S 0.000399361 236 chr14:65241911:C:A 6321_4774_1592_D->Y 0.000199681 236 chr14:65241914:G:T 6321_4771_1591_L->M 0.000199681 236 chr14:65241962:C:T 6321_4723_1575_G->R 0.000199681 236 chr14:65241976:C:T 6321_4709_1570_R->Q 0.000199681 236 chr14:65241986:C:G 6321_4699_1567_D->H 0.00279553 236 chr14:65241997:T:C 6321_4688_1563_Q->R 0.000199681 236 chr14:65242015:T:C 6321_4670_1557_E->G 0.000399361 236 chr14:65242090:G:A 6321_4595_1532_P->L 0.000399361 236 chr14:65245883:T:G 6321_4555_1519_K->Q 0.000199681 236 chr14:65245927:G:A 6321_4511_1504_A->V 0.000199681 236 chr14:65246463:G:A 6321_4453_1485_R->W 0.000199681 236 chr14:65246504:T:C 6321_4412_1471_K->R 0.000199681 236 chr14:65246540:C:T 6321_4376_1459_R->Q 0.000399361 236 chr14:65246634:C:T 6321_4282_1428_V->M 0.000199681 236 chr14:65249052:C:G 6321_4222_1408_G->R 0.101637 236 chr14:65249054:G:A 6321_4220_1407_P->L 0.000199681 236 chr14:65249066:C:T 6321_4208_1403_R->Q 0.0327476 236 chr14:65249092:C:A 6321_4182_1394_W->C 0.000399361 236 chr14:65249129:T:C 6321_4145_1382_D->G 0.000199681 236 chr14:65249147:G:A 6321_4127_1376_S->L 0.000399361 236 chr14:65249153:T:C 6321_4121_1374_H->R 0.0301518 236 chr14:65249198:C:T 6321_4076_1359_R->Q 0.000199681 236 chr14:65249199:G:A 6321_4075_1359_R->W 0.000998403 236 chr14:65250966:G:A 6321_4001_1334_A->V 0.000599042 236 chr14:65252304:A:T 6321_3806_1269_L->Q 0.000199681 236 chr14:65252552:G:A 6321_3679_1227_P->S 0.000599042 236 chr14:65252582:T:C 6321_3649_1217_M->V 0.000199681 236 chr14:65252663:T:C 6321_3568_1190_T->A 0.000199681 236 chr14:65253145:C:T 6321_3538_1180_A->T 0.000199681 236 chr14:65253232:T:C 6321_3451_1151_N->D 0.469449 236 chr14:65253247:G:T 6321_3436_1146_L->M 0.000199681 236 chr14:65253250:C:T 6321_3433_1145_G->S 0.000199681 236 chr14:65253258:C:T 6321_3425_1142_R->Q 0.000199681 236 chr14:65253288:G:A 6321_3395_1132_T->M 0.000199681 236 chr14:65253349:C:T 6321_3334_1112_G->R 0.00139776 236 chr14:65253391:G:T 6321_3292_1098_Q->K 0.000199681 236 chr14:65253400:C:T 6321_3283_1095_E->K 0.000199681 236 chr14:65253436:C:T 6321_3247_1083_A->T 0.000199681 236 chr14:65253450:G:A 6321_3233_1078_S->F 0.000998403 236 chr14:65253539:T:A 6321_3144_1048_Q->H 0.000199681 236 chr14:65253580:G:A 6321_3103_1035_R->W 0.00139776 236 chr14:65253612:G:A 6321_3071_1024_S->L 0.000199681 236 chr14:65253654:C:T 6321_3029_1010_R->H 0.000199681 236 chr14:65253679:G:C 6321_3004_1002_R->G 0.000599042 236 chr14:65253718:C:A 6321_2965_989_G->C 0.000199681 236 chr14:65253729:C:T 6321_2954_985_R->Q 0.000199681 236 chr14:65253730:G:A 6321_2953_985_R->W 0.000399361 236 chr14:65253732:C:T 6321_2951_984_G->E 0.000199681 236 chr14:65253802:C:T 6321_2881_961_V->I 0.00199681 236 chr14:65253805:A:G 6321_2878_960_C->R 0.000199681 236 chr14:65253819:C:T 6321_2864_955_R->Q 0.000199681 236 chr14:65253846:C:T 6321_2837_946_R->Q 0.000199681 236 chr14:65258480:G:T 6321_2761_921_R->S 0.000199681 236 chr14:65258545:G:A 6321_2696_899_T->I 0.000199681 236 chr14:65259725:C:A 6321_2656_886_V->L 0.000199681 236 chr14:65259788:C:T 6321_2593_865_G->R 0.000399361 236 chr14:65259901:C:T 6321_2480_827_R->Q 0.000599042 236 chr14:65259917:G:A 6321_2464_822_R->W 0.000199681 236 chr14:65259941:G:C 6321_2440_814_R->G 0.000399361 236 chr14:65259946:T:G 6321_2435_812_E->A 0.000199681 236 chr14:65259950:C:T 6321_2431_811_E->K 0.000998403 236 chr14:65259995:G:A 6321_2386_796_R->C 0.000199681 236 chr14:65260045:C:T 6321_2336_779_R->Q 0.000199681 236 chr14:65260046:G:A 6321_2335_779_R->W 0.000199681 236 chr14:65260058:C:T 6321_2323_775_E->K 0.000199681 236 chr14:65260078:C:T 6321_2303_768_G->D 0.00359425 236 chr14:65260168:T:C 6321_2213_738_N->S 0.000199681 236 chr14:65260231:C:T 6321_2150_717_R->H 0.000798722 236 chr14:65260232:G:A 6321_2149_717_R->C 0.000199681 236 chr14:65260264:C:T 6321_2117_706_R->H 0.000199681 236 chr14:65260265:G:A 6321_2116_706_R->C 0.000399361 236 chr14:65260321:C:T 6321_2060_687_R->H 0.00499201 236 chr14:65260543:C:A 6321_1838_613_S->I 0.00638978 236 chr14:65260549:C:T 6321_1832_611_R->H 0.000399361 236 chr14:65261215:C:T 6321_1765_589_A->T 0.00539137 236 chr14:65261283:A:T 6321_1697_566_L->Q 0.000199681 236 chr14:65261317:C:T 6321_1663_555_E->K 0.000199681 236 chr14:65261332:G:A 6321_1648_550_H->Y 0.000199681 236 chr14:65262093:C:T 6321_1606_536_D->N 0.000399361 236 chr14:65262096:G:T 6321_1603_535_Q->K 0.000199681 236 chr14:65262126:C:T 6321_1573_525_E->K 0.000199681 236 chr14:65262176:C:T 6321_1523_508_R->H 0.000998403 236 chr14:65262198:C:A 6321_1501_501_A->S 0.000199681 236 chr14:65262276:C:T 6321_1423_475_E->K 0.000199681 236 chr14:65262342:C:A 6321_1357_453_D->Y 0.000199681 236 chr14:65263300:C:T 6321_1316_439_S->N 0.466853 236 chr14:65263313:C:G 6321_1303_435_E->Q 0.000399361 236 chr14:65263340:G:A 6321_1276_426_R->C 0.000199681 236 chr14:65263343:G:A 6321_1273_425_R->W 0.000199681 236 chr14:65264514:C:T 6321_1115_372_R->Q 0.000399361 236 chr14:65266481:C:T 6321_1048_350_V->M 0.000399361 236 chr14:65266525:G:A 6321_1004_335_T->M 0.000399361 236 chr14:65266547:G:A 6321_982_328_R->C 0.000199681 236 chr14:65266565:T:C 6321_964_322_I->V 0.000199681 236 chr14:65266606:C:T 6321_923_308_S->N 0.000599042 236 chr14:65268027:T:C 6321_739_247_I->V 0.000199681 236 chr14:65268057:C:T 6321_709_237_A->T 0.000199681 236 chr14:65268950:G:A 6321_560_187_T->M 0.000199681 236 chr14:65270369:G:A 6321_430_144_R->C 0.000199681 236 chr14:65271700:C:T 6321_257_86_R->H 0.000399361 236 chr14:65271737:G:A 6321_220_74_R->C 0.000199681 236 chr14:65271746:C:T 6321_211_71_V->M 0.000199681 236 chr14:65271775:G:A 6321_182_61_T->M 0.000798722 236 chr14:65289698:G:A 6321_115_39_L->F 0.000199681 236 chr14:65289773:G:A 6321_40_14_P->S 0.000199681 236 chr14:65289787:T:G 6321_26_9_N->T 0.00199681 236 na12878 Variants: 236 chr14:65253232:T:C 6321_3451_1151_N->D 236 chr14:65262126:C:T 6321_1573_525_E->K 236 chr14:65263300:C:T 6321_1316_439_S->N 236 snyder Variants: 236 chr14:65249066:C:T 6321_4208_1403_R->Q 236 chr14:65253232:T:C 6321_3451_1151_N->D 236 chr14:65263300:C:T 6321_1316_439_S->N 237 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100577_ENST00000216465 gene_Name: MAAI_HUMAN 237 list of pdbs: 237 1FW1 pdb_description: 26-Sep-01 X-ray 1.900 Glutathione transferase zeta/maleylacetoacetate isomerase 237 Zimmer Variants: 237 chr14:77794283:T:C 651_245_82_M->T 237 HGMD Variants: 237 chr14:77793207:G:A 651_94_32_E->K 237 chr14:77793237:G:A 651_124_42_G->R 237 oneKG Variants: 237 chr14:77791259:G:A 651_62_21_R->Q 0.000199681 237 chr14:77793207:G:A 651_94_32_E->K 0.311502 237 chr14:77793222:A:G 651_109_37_N->D 0.000399361 237 chr14:77793237:G:A 651_124_42_G->R 0.0305511 237 chr14:77793819:C:G 651_140_47_S->C 0.000998403 237 chr14:77794283:T:C 651_245_82_M->T 0.146965 237 chr14:77794333:G:A 651_295_99_V->M 0.000199681 237 chr14:77794337:G:A 651_299_100_R->H 0.000199681 237 chr14:77795518:A:G 651_395_132_Q->R 0.00219649 237 chr14:77795520:A:C 651_397_133_N->H 0.00199681 237 chr14:77795522:C:A 651_399_133_N->K 0.000599042 237 chr14:77795544:G:C 651_421_141_A->P 0.000199681 237 chr14:77796125:C:T 651_449_150_A->V 0.000199681 237 chr14:77796127:G:A 651_451_151_G->S 0.000199681 237 chr14:77796138:T:G 651_462_154_C->W 0.000199681 237 chr14:77796143:G:A 651_467_156_G->E 0.000199681 237 chr14:77796148:G:A 651_472_158_E->K 0.000399361 237 chr14:77797452:A:G 651_565_189_I->V 0.00119808 237 chr14:77797471:T:C 651_584_195_V->A 0.00219649 237 chr14:77797496:C:A 651_609_203_H->Q 0.000199681 237 na12878 Variants: 237 chr14:77793207:G:A 651_94_32_E->K 237 chr14:77794283:T:C 651_245_82_M->T 237 snyder Variants: 237 chr14:77794283:T:C 651_245_82_M->T 238 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198838_ENST00000415757 gene_Name: RYR3_HUMAN 238 list of pdbs: 238 4ERV pdb_description: 13-Jun-12 X-ray 1.750 Crystal structure of human ryanodine receptor 3 (2597-2800) 238 Zimmer Variants: 238 chr15:34016274:G:A 14598_6809_2270_G->E;HUB=PPI;GENE=RYR3;CDSS=3;DBRECUR=RYR3 238 chr15:33954652:C:T 14598_4921_1641_R->C;HUB=PPI;GENE=RYR3;CDSS=2;DBRECUR=RYR3 238 HGMD Variants: 238 chr15:33905410:A:G 14598_2191_731_I->V 238 chr15:33938601:C:T 14598_3815_1272_T->M 238 chr15:33999249:G:A 14598_6613_2205_V->M 238 chr15:34150077:G:A 14598_14089_4697_D->N 238 chr15:34151822:T:C 14598_14174_4725_I->T 238 oneKG Variants: 238 chr15:33954862:C:T 14598_5131_1711_R->* 0.000199681 238 chr15:33603263:A:G 14598_17_6_E->G 0.000199681 238 chr15:33603293:G:A 14598_47_16_R->K 0.000399361 238 chr15:33765647:G:A 14598_79_27_A->T 0.000399361 238 chr15:33795853:G:A 14598_193_65_V->I 0.000199681 238 chr15:33795934:G:A 14598_274_92_E->K 0.000199681 238 chr15:33822829:G:A 14598_316_106_G->S 0.000199681 238 chr15:33822839:T:C 14598_326_109_V->A 0.000199681 238 chr15:33831647:C:A 14598_530_177_S->Y 0.000199681 238 chr15:33833007:A:G 14598_562_188_N->D 0.000199681 238 chr15:33833037:A:G 14598_592_198_M->V 0.000199681 238 chr15:33835849:C:T 14598_673_225_R->C 0.000199681 238 chr15:33835865:A:T 14598_689_230_H->L 0.000199681 238 chr15:33835880:C:T 14598_704_235_T->M 0.000199681 238 chr15:33835892:C:A 14598_716_239_T->K 0.000199681 238 chr15:33835901:A:G 14598_725_242_N->S 0.00199681 238 chr15:33840344:G:A 14598_754_252_E->K 0.000199681 238 chr15:33842405:G:A 14598_860_287_R->Q 0.000199681 238 chr15:33842467:C:T 14598_922_308_R->W 0.000199681 238 chr15:33842468:G:A 14598_923_308_R->Q 0.000199681 238 chr15:33855072:G:A 14598_1007_336_R->Q 0.00139776 238 chr15:33855138:T:C 14598_1073_358_I->T 0.01877 238 chr15:33872185:A:G 14598_1277_426_N->S 0.00219649 238 chr15:33872203:T:G 14598_1295_432_I->S 0.00339457 238 chr15:33872215:T:C 14598_1307_436_I->T 0.000199681 238 chr15:33872281:G:A 14598_1373_458_R->Q 0.00119808 238 chr15:33873739:G:A 14598_1468_490_D->N 0.000199681 238 chr15:33873751:G:A 14598_1480_494_V->I 0.14397 238 chr15:33873758:A:G 14598_1487_496_N->S 0.000199681 238 chr15:33873821:T:C 14598_1550_517_L->P 0.000199681 238 chr15:33878259:C:T 14598_1730_577_A->V 0.000199681 238 chr15:33893659:G:A 14598_1828_610_V->I 0.00778754 238 chr15:33893663:C:T 14598_1832_611_A->V 0.000199681 238 chr15:33893672:C:T 14598_1841_614_A->V 0.000199681 238 chr15:33893686:A:G 14598_1855_619_I->V 0.000199681 238 chr15:33893715:C:A 14598_1884_628_N->K 0.000199681 238 chr15:33895374:A:G 14598_1973_658_K->R 0.000199681 238 chr15:33895412:C:A 14598_2011_671_P->T 0.000199681 238 chr15:33905410:A:G 14598_2191_731_I->V 0.202077 238 chr15:33916136:G:A 14598_2486_829_R->H 0.000199681 238 chr15:33920762:T:A 14598_2665_889_W->R 0.000199681 238 chr15:33920771:G:A 14598_2674_892_G->S 0.000199681 238 chr15:33922154:A:G 14598_2693_898_N->S 0.000599042 238 chr15:33922156:A:G 14598_2695_899_K->E 0.000199681 238 chr15:33922208:A:C 14598_2747_916_K->T 0.000599042 238 chr15:33922231:A:G 14598_2770_924_T->A 0.000599042 238 chr15:33923455:C:T 14598_2828_943_A->V 0.000199681 238 chr15:33925166:G:A 14598_2884_962_G->S 0.000199681 238 chr15:33926842:G:A 14598_3083_1028_R->H 0.000199681 238 chr15:33927967:C:A 14598_3328_1110_P->T 0.000199681 238 chr15:33928584:G:A 14598_3389_1130_R->H 0.000199681 238 chr15:33936512:G:A 14598_3557_1186_G->D 0.000199681 238 chr15:33936689:T:C 14598_3734_1245_V->A 0.000199681 238 chr15:33936705:T:G 14598_3750_1250_D->E 0.000199681 238 chr15:33938687:A:T 14598_3901_1301_S->C 0.000199681 238 chr15:33938703:T:A 14598_3917_1306_L->Q 0.000399361 238 chr15:33939645:T:A 14598_3962_1321_L->H 0.000399361 238 chr15:33944944:G:A 14598_4168_1390_V->I 0.000599042 238 chr15:33944959:A:G 14598_4183_1395_I->V 0.000199681 238 chr15:33945011:G:C 14598_4235_1412_G->A 0.000399361 238 chr15:33945056:A:G 14598_4280_1427_N->S 0.000199681 238 chr15:33945059:G:C 14598_4283_1428_G->A 0.000199681 238 chr15:33952476:G:A 14598_4474_1492_V->I 0.000199681 238 chr15:33952485:A:T 14598_4483_1495_I->F 0.000199681 238 chr15:33952494:G:A 14598_4492_1498_V->M 0.000199681 238 chr15:33952507:G:T 14598_4505_1502_R->L 0.00119808 238 chr15:33952555:G:A 14598_4553_1518_R->H 0.000399361 238 chr15:33954413:C:T 14598_4682_1561_T->M 0.000199681 238 chr15:33954466:G:A 14598_4735_1579_A->T 0.000199681 238 chr15:33954467:C:T 14598_4736_1579_A->V 0.000199681 238 chr15:33954652:C:T 14598_4921_1641_R->C 0.161741 238 chr15:33954667:G:A 14598_4936_1646_E->K 0.000199681 238 chr15:33954764:A:G 14598_5033_1678_D->G 0.0367412 238 chr15:33954773:A:G 14598_5042_1681_K->R 0.000199681 238 chr15:33954809:C:T 14598_5078_1693_T->M 0.000399361 238 chr15:33954856:C:T 14598_5125_1709_H->Y 0.000199681 238 chr15:33955030:G:A 14598_5299_1767_E->K 0.0217652 238 chr15:33955051:G:A 14598_5320_1774_V->M 0.000199681 238 chr15:33955088:G:A 14598_5357_1786_G->D 0.000199681 238 chr15:33955124:G:A 14598_5393_1798_R->Q 0.000599042 238 chr15:33955738:A:G 14598_5419_1807_M->V 0.000199681 238 chr15:33955740:G:A 14598_5421_1807_M->I 0.000199681 238 chr15:33955843:A:C 14598_5524_1842_K->Q 0.000199681 238 chr15:33955901:G:A 14598_5582_1861_R->Q 0.000399361 238 chr15:33961555:A:T 14598_5620_1874_I->F 0.000199681 238 chr15:33962696:A:T 14598_5799_1933_K->N 0.000199681 238 chr15:33962731:C:T 14598_5834_1945_P->L 0.000199681 238 chr15:33988501:G:A 14598_5943_1981_M->I 0.000199681 238 chr15:33988524:A:G 14598_5966_1989_Q->R 0.000199681 238 chr15:33988536:T:C 14598_5978_1993_I->T 0.000399361 238 chr15:33988683:A:C,G 14598_6125_2042_N->T,2 0.000998403 238 chr15:33988683:A:C,G 14598_6125_2042_N->S 0.000998403 238 chr15:33990192:T:C 14598_6244_2082_S->P 0.00139776 238 chr15:33991936:G:T 14598_6281_2094_C->F 0.000199681 238 chr15:33991975:A:C 14598_6320_2107_N->T 0.000199681 238 chr15:33993252:C:A 14598_6454_2152_L->M 0.000199681 238 chr15:33999253:A:C 14598_6617_2206_N->T 0.00179712 238 chr15:34014994:G:A 14598_6698_2233_R->Q 0.000399361 238 chr15:34016271:C:T 14598_6806_2269_T->M 0.000199681 238 chr15:34016274:G:A 14598_6809_2270_G->E 0.11901 238 chr15:34016298:T:C 14598_6833_2278_I->T 0.000199681 238 chr15:34016300:G:A 14598_6835_2279_V->M 0.000399361 238 chr15:34016315:G:A 14598_6850_2284_A->T 0.0 238 chr15:34018594:A:G 14598_6920_2307_Q->R 0.000599042 238 chr15:34018616:C:G 14598_6942_2314_I->M 0.000199681 238 chr15:34018675:G:A 14598_7001_2334_S->N 0.000199681 238 chr15:34018698:C:T 14598_7024_2342_L->F 0.000599042 238 chr15:34021160:C:T 14598_7136_2379_T->I 0.000199681 238 chr15:34023751:G:C 14598_7280_2427_R->T 0.000399361 238 chr15:34023838:G:A 14598_7367_2456_R->H 0.000998403 238 chr15:34028501:A:G 14598_7490_2497_N->S 0.00239617 238 chr15:34032130:C:G 14598_7754_2585_T->R 0.00159744 238 chr15:34032166:A:G 14598_7790_2597_N->S 0.000199681 238 chr15:34032188:C:G 14598_7812_2604_N->K 0.000399361 238 chr15:34034601:A:G 14598_7855_2619_T->A 0.000399361 238 chr15:34034608:A:T 14598_7862_2621_Y->F 0.000798722 238 chr15:34038308:A:T 14598_7939_2647_N->Y 0.000199681 238 chr15:34038351:C:T 14598_7982_2661_T->M 0.000399361 238 chr15:34040394:A:G 14598_8069_2690_K->R 0.000199681 238 chr15:34040406:C:T 14598_8081_2694_A->V 0.000199681 238 chr15:34040428:T:G 14598_8103_2701_N->K 0.000599042 238 chr15:34040442:G:T 14598_8117_2706_S->I 0.000399361 238 chr15:34042208:A:G 14598_8228_2743_Y->C 0.000199681 238 chr15:34042424:A:G 14598_8336_2779_K->R 0.000199681 238 chr15:34042469:A:G 14598_8381_2794_N->S 0.000199681 238 chr15:34048533:G:A 14598_8542_2848_E->K 0.00139776 238 chr15:34048546:G:A 14598_8555_2852_R->H 0.00179712 238 chr15:34049703:T:C 14598_8611_2871_F->L 0.000199681 238 chr15:34049733:T:A 14598_8641_2881_S->T 0.0135783 238 chr15:34049773:A:C 14598_8681_2894_H->P 0.000199681 238 chr15:34049796:G:A 14598_8704_2902_G->S 0.000199681 238 chr15:34060878:G:A 14598_8725_2909_A->T 0.000199681 238 chr15:34064218:A:G 14598_8914_2972_K->E 0.000199681 238 chr15:34064243:G:A 14598_8939_2980_R->Q 0.000199681 238 chr15:34064260:G:A 14598_8956_2986_V->I 0.00279553 238 chr15:34064284:A:G 14598_8980_2994_T->A 0.000199681 238 chr15:34064288:T:A 14598_8984_2995_V->E 0.00139776 238 chr15:34064302:A:G 14598_8998_3000_I->V 0.0223642 238 chr15:34072417:G:T 14598_9143_3048_R->L 0.00219649 238 chr15:34072528:C:G 14598_9254_3085_P->R 0.000399361 238 chr15:34077878:A:G 14598_9284_3095_D->G 0.000599042 238 chr15:34077892:A:G 14598_9298_3100_M->V 0.000199681 238 chr15:34077898:C:G 14598_9304_3102_P->A 0.000199681 238 chr15:34077949:G:A 14598_9355_3119_E->K 0.000599042 238 chr15:34078082:A:T 14598_9488_3163_K->M 0.000199681 238 chr15:34078123:C:A 14598_9529_3177_L->M 0.000199681 238 chr15:34078132:A:G 14598_9538_3180_I->V 0.000199681 238 chr15:34078175:G:A 14598_9581_3194_R->H 0.000399361 238 chr15:34080422:A:G 14598_9593_3198_Y->C 0.000199681 238 chr15:34080450:G:C 14598_9621_3207_R->S 0.000199681 238 chr15:34080454:G:A 14598_9625_3209_D->N 0.000199681 238 chr15:34080515:C:T 14598_9686_3229_T->M 0.0159744 238 chr15:34080571:G:C 14598_9742_3248_E->Q 0.000399361 238 chr15:34080628:C:T 14598_9799_3267_P->S 0.000199681 238 chr15:34080641:G:A 14598_9812_3271_R->H 0.000399361 238 chr15:34092993:G:A 14598_9853_3285_D->N 0.000199681 238 chr15:34094101:T:C 14598_9950_3317_I->T 0.00139776 238 chr15:34102723:G:C 14598_10055_3352_G->A 0.000199681 238 chr15:34102744:C:T 14598_10076_3359_T->I 0.000199681 238 chr15:34102752:A:G 14598_10084_3362_I->V 0.000199681 238 chr15:34103212:C:T 14598_10216_3406_R->W 0.000199681 238 chr15:34103213:G:A 14598_10217_3406_R->Q 0.000199681 238 chr15:34103224:C:A 14598_10228_3410_H->N 0.000199681 238 chr15:34103230:C:G 14598_10234_3412_Q->E 0.000199681 238 chr15:34105668:G:A 14598_10375_3459_V->M 0.000199681 238 chr15:34105698:G:A 14598_10405_3469_V->I 0.000199681 238 chr15:34105732:G:A 14598_10439_3480_R->Q 0.000199681 238 chr15:34105753:G:C 14598_10460_3487_R->T 0.000199681 238 chr15:34105758:G:A 14598_10465_3489_A->T 0.000399361 238 chr15:34109067:C:G 14598_10492_3498_R->G 0.000199681 238 chr15:34109145:G:A 14598_10570_3524_V->I 0.000199681 238 chr15:34110816:C:T 14598_10622_3541_T->I 0.000599042 238 chr15:34112986:A:T 14598_10773_3591_E->D 0.000998403 238 chr15:34112994:A:G 14598_10781_3594_D->G 0.000399361 238 chr15:34113729:A:G 14598_10906_3636_M->V 0.00119808 238 chr15:34115261:T:C 14598_11045_3682_M->T 0.000199681 238 chr15:34117863:C:A 14598_11117_3706_T->N 0.000399361 238 chr15:34118905:C:T 14598_11182_3728_R->C 0.000599042 238 chr15:34119450:G:A 14598_11281_3761_V->I 0.000599042 238 chr15:34127179:T:A 14598_11459_3820_I->N 0.000199681 238 chr15:34127241:G:A 14598_11521_3841_V->I 0.000399361 238 chr15:34127250:A:C 14598_11530_3844_N->H 0.000798722 238 chr15:34129944:C:G 14598_11748_3916_D->E 0.000199681 238 chr15:34129963:T:A 14598_11767_3923_F->I 0.000199681 238 chr15:34129985:G:A 14598_11789_3930_G->D 0.000199681 238 chr15:34130020:G:A 14598_11824_3942_A->T 0.000199681 238 chr15:34130057:T:C 14598_11861_3954_I->T 0.00119808 238 chr15:34130083:G:C 14598_11887_3963_A->P 0.000399361 238 chr15:34130110:G:A 14598_11914_3972_V->I 0.000399361 238 chr15:34130125:C:T 14598_11929_3977_R->W 0.000199681 238 chr15:34130137:C:T 14598_11941_3981_P->S 0.000199681 238 chr15:34130168:T:G 14598_11972_3991_V->G 0.0151757 238 chr15:34130237:A:C 14598_12041_4014_E->A 0.000199681 238 chr15:34130257:G:A 14598_12061_4021_E->K 0.000199681 238 chr15:34130497:G:A 14598_12301_4101_D->N 0.000399361 238 chr15:34130529:A:T 14598_12333_4111_E->D 0.000399361 238 chr15:34130548:G:A 14598_12352_4118_V->M 0.000998403 238 chr15:34130618:G:T 14598_12422_4141_C->F 0.000399361 238 chr15:34130644:G:A 14598_12448_4150_D->N 0.000399361 238 chr15:34130674:C:G 14598_12478_4160_L->V 0.000199681 238 chr15:34133047:A:G 14598_12985_4329_N->D 0.000998403 238 chr15:34134072:G:T 14598_13030_4344_D->Y 0.000599042 238 chr15:34134154:G:A 14598_13112_4371_R->Q 0.000798722 238 chr15:34134178:C:T 14598_13136_4379_P->L 0.000199681 238 chr15:34134195:A:G 14598_13153_4385_N->D 0.00359425 238 chr15:34140564:G:A 14598_13555_4519_E->K 0.000199681 238 chr15:34140614:C:G 14598_13605_4535_I->M 0.000998403 238 chr15:34145248:C:G 14598_13616_4539_S->C 0.000199681 238 chr15:34145784:G:C 14598_13685_4562_G->A 0.000199681 238 chr15:34145793:G:A 14598_13694_4565_R->H 0.000199681 238 chr15:34145828:C:G 14598_13729_4577_L->V 0.000199681 238 chr15:34145841:C:A 14598_13742_4581_P->Q 0.000199681 238 chr15:34146601:T:C 14598_13796_4599_I->T 0.000199681 238 chr15:34146610:A:T 14598_13805_4602_K->M 0.000199681 238 chr15:34146976:T:G 14598_13855_4619_Y->D 0.000199681 238 chr15:34147039:C:A 14598_13918_4640_H->N 0.000199681 238 chr15:34150083:G:A 14598_14095_4699_E->K 0.00199681 238 chr15:34151865:G:T 14598_14217_4739_M->I 0.000199681 238 chr15:34157389:G:C 14598_14560_4854_D->H 0.000199681 238 na12878 Variants: 238 chr15:33905410:A:G 14598_2191_731_I->V 238 chr15:34016274:G:A 14598_6809_2270_G->E 238 chr15:33954652:C:T 14598_4921_1641_R->C 238 snyder Variants: 238 chr15:33905410:A:G 14598_2191_731_I->V 238 chr15:34016274:G:A 14598_6809_2270_G->E 238 chr15:33954652:C:T 14598_4921_1641_R->C 239 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198838_ENST00000389232 gene_Name: RYR3_HUMAN 239 list of pdbs: 239 4ERV pdb_description: 13-Jun-12 X-ray 1.750 Crystal structure of human ryanodine receptor 3 (2597-2800) 239 Zimmer Variants: 239 chr15:34016274:G:A 14613_6809_2270_G->E 239 chr15:33954652:C:T 14613_4921_1641_R->C 239 HGMD Variants: 239 chr15:33905410:A:G 14613_2191_731_I->V 239 chr15:33938601:C:T 14613_3815_1272_T->M 239 chr15:33999249:G:A 14613_6613_2205_V->M 239 chr15:34150077:G:A 14613_14104_4702_D->N 239 chr15:34151822:T:C 14613_14189_4730_I->T 239 oneKG Variants: 239 chr15:33954862:C:T 14613_5131_1711_R->* 0.000199681 239 chr15:33603263:A:G 14613_17_6_E->G 0.000199681 239 chr15:33603293:G:A 14613_47_16_R->K 0.000399361 239 chr15:33765647:G:A 14613_79_27_A->T 0.000399361 239 chr15:33795853:G:A 14613_193_65_V->I 0.000199681 239 chr15:33795934:G:A 14613_274_92_E->K 0.000199681 239 chr15:33822829:G:A 14613_316_106_G->S 0.000199681 239 chr15:33822839:T:C 14613_326_109_V->A 0.000199681 239 chr15:33831647:C:A 14613_530_177_S->Y 0.000199681 239 chr15:33833007:A:G 14613_562_188_N->D 0.000199681 239 chr15:33833037:A:G 14613_592_198_M->V 0.000199681 239 chr15:33835849:C:T 14613_673_225_R->C 0.000199681 239 chr15:33835865:A:T 14613_689_230_H->L 0.000199681 239 chr15:33835880:C:T 14613_704_235_T->M 0.000199681 239 chr15:33835892:C:A 14613_716_239_T->K 0.000199681 239 chr15:33835901:A:G 14613_725_242_N->S 0.00199681 239 chr15:33840344:G:A 14613_754_252_E->K 0.000199681 239 chr15:33842405:G:A 14613_860_287_R->Q 0.000199681 239 chr15:33842467:C:T 14613_922_308_R->W 0.000199681 239 chr15:33842468:G:A 14613_923_308_R->Q 0.000199681 239 chr15:33855072:G:A 14613_1007_336_R->Q 0.00139776 239 chr15:33855138:T:C 14613_1073_358_I->T 0.01877 239 chr15:33872185:A:G 14613_1277_426_N->S 0.00219649 239 chr15:33872203:T:G 14613_1295_432_I->S 0.00339457 239 chr15:33872215:T:C 14613_1307_436_I->T 0.000199681 239 chr15:33872281:G:A 14613_1373_458_R->Q 0.00119808 239 chr15:33873739:G:A 14613_1468_490_D->N 0.000199681 239 chr15:33873751:G:A 14613_1480_494_V->I 0.14397 239 chr15:33873758:A:G 14613_1487_496_N->S 0.000199681 239 chr15:33873821:T:C 14613_1550_517_L->P 0.000199681 239 chr15:33878259:C:T 14613_1730_577_A->V 0.000199681 239 chr15:33893659:G:A 14613_1828_610_V->I 0.00778754 239 chr15:33893663:C:T 14613_1832_611_A->V 0.000199681 239 chr15:33893672:C:T 14613_1841_614_A->V 0.000199681 239 chr15:33893686:A:G 14613_1855_619_I->V 0.000199681 239 chr15:33893715:C:A 14613_1884_628_N->K 0.000199681 239 chr15:33895374:A:G 14613_1973_658_K->R 0.000199681 239 chr15:33895412:C:A 14613_2011_671_P->T 0.000199681 239 chr15:33905410:A:G 14613_2191_731_I->V 0.202077 239 chr15:33916136:G:A 14613_2486_829_R->H 0.000199681 239 chr15:33920762:T:A 14613_2665_889_W->R 0.000199681 239 chr15:33920771:G:A 14613_2674_892_G->S 0.000199681 239 chr15:33922154:A:G 14613_2693_898_N->S 0.000599042 239 chr15:33922156:A:G 14613_2695_899_K->E 0.000199681 239 chr15:33922208:A:C 14613_2747_916_K->T 0.000599042 239 chr15:33922231:A:G 14613_2770_924_T->A 0.000599042 239 chr15:33923455:C:T 14613_2828_943_A->V 0.000199681 239 chr15:33925166:G:A 14613_2884_962_G->S 0.000199681 239 chr15:33926842:G:A 14613_3083_1028_R->H 0.000199681 239 chr15:33927967:C:A 14613_3328_1110_P->T 0.000199681 239 chr15:33928584:G:A 14613_3389_1130_R->H 0.000199681 239 chr15:33936512:G:A 14613_3557_1186_G->D 0.000199681 239 chr15:33936689:T:C 14613_3734_1245_V->A 0.000199681 239 chr15:33936705:T:G 14613_3750_1250_D->E 0.000199681 239 chr15:33938687:A:T 14613_3901_1301_S->C 0.000199681 239 chr15:33938703:T:A 14613_3917_1306_L->Q 0.000399361 239 chr15:33939645:T:A 14613_3962_1321_L->H 0.000399361 239 chr15:33944944:G:A 14613_4168_1390_V->I 0.000599042 239 chr15:33944959:A:G 14613_4183_1395_I->V 0.000199681 239 chr15:33945011:G:C 14613_4235_1412_G->A 0.000399361 239 chr15:33945056:A:G 14613_4280_1427_N->S 0.000199681 239 chr15:33945059:G:C 14613_4283_1428_G->A 0.000199681 239 chr15:33952476:G:A 14613_4474_1492_V->I 0.000199681 239 chr15:33952485:A:T 14613_4483_1495_I->F 0.000199681 239 chr15:33952494:G:A 14613_4492_1498_V->M 0.000199681 239 chr15:33952507:G:T 14613_4505_1502_R->L 0.00119808 239 chr15:33952555:G:A 14613_4553_1518_R->H 0.000399361 239 chr15:33954413:C:T 14613_4682_1561_T->M 0.000199681 239 chr15:33954466:G:A 14613_4735_1579_A->T 0.000199681 239 chr15:33954467:C:T 14613_4736_1579_A->V 0.000199681 239 chr15:33954652:C:T 14613_4921_1641_R->C 0.161741 239 chr15:33954667:G:A 14613_4936_1646_E->K 0.000199681 239 chr15:33954764:A:G 14613_5033_1678_D->G 0.0367412 239 chr15:33954773:A:G 14613_5042_1681_K->R 0.000199681 239 chr15:33954809:C:T 14613_5078_1693_T->M 0.000399361 239 chr15:33954856:C:T 14613_5125_1709_H->Y 0.000199681 239 chr15:33955030:G:A 14613_5299_1767_E->K 0.0217652 239 chr15:33955051:G:A 14613_5320_1774_V->M 0.000199681 239 chr15:33955088:G:A 14613_5357_1786_G->D 0.000199681 239 chr15:33955124:G:A 14613_5393_1798_R->Q 0.000599042 239 chr15:33955738:A:G 14613_5419_1807_M->V 0.000199681 239 chr15:33955740:G:A 14613_5421_1807_M->I 0.000199681 239 chr15:33955843:A:C 14613_5524_1842_K->Q 0.000199681 239 chr15:33955901:G:A 14613_5582_1861_R->Q 0.000399361 239 chr15:33961555:A:T 14613_5620_1874_I->F 0.000199681 239 chr15:33962696:A:T 14613_5799_1933_K->N 0.000199681 239 chr15:33962731:C:T 14613_5834_1945_P->L 0.000199681 239 chr15:33988501:G:A 14613_5943_1981_M->I 0.000199681 239 chr15:33988524:A:G 14613_5966_1989_Q->R 0.000199681 239 chr15:33988536:T:C 14613_5978_1993_I->T 0.000399361 239 chr15:33988683:A:C,G 14613_6125_2042_N->T 0.000998403 239 chr15:33988683:A:C,G 14613_6125_2042_N->S 0.000998403 239 chr15:33990192:T:C 14613_6244_2082_S->P 0.00139776 239 chr15:33991936:G:T 14613_6281_2094_C->F 0.000199681 239 chr15:33991975:A:C 14613_6320_2107_N->T 0.000199681 239 chr15:33993252:C:A 14613_6454_2152_L->M 0.000199681 239 chr15:33999253:A:C 14613_6617_2206_N->T 0.00179712 239 chr15:34014994:G:A 14613_6698_2233_R->Q 0.000399361 239 chr15:34016271:C:T 14613_6806_2269_T->M 0.000199681 239 chr15:34016274:G:A 14613_6809_2270_G->E 0.11901 239 chr15:34016298:T:C 14613_6833_2278_I->T 0.000199681 239 chr15:34016300:G:A 14613_6835_2279_V->M 0.000399361 239 chr15:34016315:G:A 14613_6850_2284_A->T 0.0 239 chr15:34018594:A:G 14613_6920_2307_Q->R 0.000599042 239 chr15:34018616:C:G 14613_6942_2314_I->M 0.000199681 239 chr15:34018675:G:A 14613_7001_2334_S->N 0.000199681 239 chr15:34018698:C:T 14613_7024_2342_L->F 0.000599042 239 chr15:34021160:C:T 14613_7136_2379_T->I 0.000199681 239 chr15:34023751:G:C 14613_7280_2427_R->T 0.000399361 239 chr15:34023838:G:A 14613_7367_2456_R->H 0.000998403 239 chr15:34028501:A:G 14613_7490_2497_N->S 0.00239617 239 chr15:34032130:C:G 14613_7754_2585_T->R 0.00159744 239 chr15:34032166:A:G 14613_7790_2597_N->S 0.000199681 239 chr15:34032188:C:G 14613_7812_2604_N->K 0.000399361 239 chr15:34034601:A:G 14613_7855_2619_T->A 0.000399361 239 chr15:34034608:A:T 14613_7862_2621_Y->F 0.000798722 239 chr15:34038308:A:T 14613_7939_2647_N->Y 0.000199681 239 chr15:34038351:C:T 14613_7982_2661_T->M 0.000399361 239 chr15:34040394:A:G 14613_8069_2690_K->R 0.000199681 239 chr15:34040406:C:T 14613_8081_2694_A->V 0.000199681 239 chr15:34040428:T:G 14613_8103_2701_N->K 0.000599042 239 chr15:34040442:G:T 14613_8117_2706_S->I 0.000399361 239 chr15:34042208:A:G 14613_8228_2743_Y->C 0.000199681 239 chr15:34042424:A:G 14613_8336_2779_K->R 0.000199681 239 chr15:34042469:A:G 14613_8381_2794_N->S 0.000199681 239 chr15:34048533:G:A 14613_8542_2848_E->K 0.00139776 239 chr15:34048546:G:A 14613_8555_2852_R->H 0.00179712 239 chr15:34049703:T:C 14613_8611_2871_F->L 0.000199681 239 chr15:34049733:T:A 14613_8641_2881_S->T 0.0135783 239 chr15:34049773:A:C 14613_8681_2894_H->P 0.000199681 239 chr15:34049796:G:A 14613_8704_2902_G->S 0.000199681 239 chr15:34060878:G:A 14613_8725_2909_A->T 0.000199681 239 chr15:34064218:A:G 14613_8914_2972_K->E 0.000199681 239 chr15:34064243:G:A 14613_8939_2980_R->Q 0.000199681 239 chr15:34064260:G:A 14613_8956_2986_V->I 0.00279553 239 chr15:34064284:A:G 14613_8980_2994_T->A 0.000199681 239 chr15:34064288:T:A 14613_8984_2995_V->E 0.00139776 239 chr15:34064302:A:G 14613_8998_3000_I->V 0.0223642 239 chr15:34072417:G:T 14613_9143_3048_R->L 0.00219649 239 chr15:34072528:C:G 14613_9254_3085_P->R 0.000399361 239 chr15:34077878:A:G 14613_9284_3095_D->G 0.000599042 239 chr15:34077892:A:G 14613_9298_3100_M->V 0.000199681 239 chr15:34077898:C:G 14613_9304_3102_P->A 0.000199681 239 chr15:34077949:G:A 14613_9355_3119_E->K 0.000599042 239 chr15:34078082:A:T 14613_9488_3163_K->M 0.000199681 239 chr15:34078123:C:A 14613_9529_3177_L->M 0.000199681 239 chr15:34078132:A:G 14613_9538_3180_I->V 0.000199681 239 chr15:34078175:G:A 14613_9581_3194_R->H 0.000399361 239 chr15:34080422:A:G 14613_9593_3198_Y->C 0.000199681 239 chr15:34080450:G:C 14613_9621_3207_R->S 0.000199681 239 chr15:34080454:G:A 14613_9625_3209_D->N 0.000199681 239 chr15:34080515:C:T 14613_9686_3229_T->M 0.0159744 239 chr15:34080571:G:C 14613_9742_3248_E->Q 0.000399361 239 chr15:34080628:C:T 14613_9799_3267_P->S 0.000199681 239 chr15:34080641:G:A 14613_9812_3271_R->H 0.000399361 239 chr15:34092993:G:A 14613_9853_3285_D->N 0.000199681 239 chr15:34094101:T:C 14613_9950_3317_I->T 0.00139776 239 chr15:34102723:G:C 14613_10070_3357_G->A 0.000199681 239 chr15:34102744:C:T 14613_10091_3364_T->I 0.000199681 239 chr15:34102752:A:G 14613_10099_3367_I->V 0.000199681 239 chr15:34103212:C:T 14613_10231_3411_R->W 0.000199681 239 chr15:34103213:G:A 14613_10232_3411_R->Q 0.000199681 239 chr15:34103224:C:A 14613_10243_3415_H->N 0.000199681 239 chr15:34103230:C:G 14613_10249_3417_Q->E 0.000199681 239 chr15:34105668:G:A 14613_10390_3464_V->M 0.000199681 239 chr15:34105698:G:A 14613_10420_3474_V->I 0.000199681 239 chr15:34105732:G:A 14613_10454_3485_R->Q 0.000199681 239 chr15:34105753:G:C 14613_10475_3492_R->T 0.000199681 239 chr15:34105758:G:A 14613_10480_3494_A->T 0.000399361 239 chr15:34109067:C:G 14613_10507_3503_R->G 0.000199681 239 chr15:34109145:G:A 14613_10585_3529_V->I 0.000199681 239 chr15:34110816:C:T 14613_10637_3546_T->I 0.000599042 239 chr15:34112986:A:T 14613_10788_3596_E->D 0.000998403 239 chr15:34112994:A:G 14613_10796_3599_D->G 0.000399361 239 chr15:34113729:A:G 14613_10921_3641_M->V 0.00119808 239 chr15:34115261:T:C 14613_11060_3687_M->T 0.000199681 239 chr15:34117863:C:A 14613_11132_3711_T->N 0.000399361 239 chr15:34118905:C:T 14613_11197_3733_R->C 0.000599042 239 chr15:34119450:G:A 14613_11296_3766_V->I 0.000599042 239 chr15:34127179:T:A 14613_11474_3825_I->N 0.000199681 239 chr15:34127241:G:A 14613_11536_3846_V->I 0.000399361 239 chr15:34127250:A:C 14613_11545_3849_N->H 0.000798722 239 chr15:34129944:C:G 14613_11763_3921_D->E 0.000199681 239 chr15:34129963:T:A 14613_11782_3928_F->I 0.000199681 239 chr15:34129985:G:A 14613_11804_3935_G->D 0.000199681 239 chr15:34130020:G:A 14613_11839_3947_A->T 0.000199681 239 chr15:34130057:T:C 14613_11876_3959_I->T 0.00119808 239 chr15:34130083:G:C 14613_11902_3968_A->P 0.000399361 239 chr15:34130110:G:A 14613_11929_3977_V->I 0.000399361 239 chr15:34130125:C:T 14613_11944_3982_R->W 0.000199681 239 chr15:34130137:C:T 14613_11956_3986_P->S 0.000199681 239 chr15:34130168:T:G 14613_11987_3996_V->G 0.0151757 239 chr15:34130237:A:C 14613_12056_4019_E->A 0.000199681 239 chr15:34130257:G:A 14613_12076_4026_E->K 0.000199681 239 chr15:34130497:G:A 14613_12316_4106_D->N 0.000399361 239 chr15:34130529:A:T 14613_12348_4116_E->D 0.000399361 239 chr15:34130548:G:A 14613_12367_4123_V->M 0.000998403 239 chr15:34130618:G:T 14613_12437_4146_C->F 0.000399361 239 chr15:34130644:G:A 14613_12463_4155_D->N 0.000399361 239 chr15:34130674:C:G 14613_12493_4165_L->V 0.000199681 239 chr15:34133047:A:G 14613_13000_4334_N->D 0.000998403 239 chr15:34134072:G:T 14613_13045_4349_D->Y 0.000599042 239 chr15:34134154:G:A 14613_13127_4376_R->Q 0.000798722 239 chr15:34134178:C:T 14613_13151_4384_P->L 0.000199681 239 chr15:34134195:A:G 14613_13168_4390_N->D 0.00359425 239 chr15:34140564:G:A 14613_13570_4524_E->K 0.000199681 239 chr15:34140614:C:G 14613_13620_4540_I->M 0.000998403 239 chr15:34145248:C:G 14613_13631_4544_S->C 0.000199681 239 chr15:34145784:G:C 14613_13700_4567_G->A 0.000199681 239 chr15:34145793:G:A 14613_13709_4570_R->H 0.000199681 239 chr15:34145828:C:G 14613_13744_4582_L->V 0.000199681 239 chr15:34145841:C:A 14613_13757_4586_P->Q 0.000199681 239 chr15:34146601:T:C 14613_13811_4604_I->T 0.000199681 239 chr15:34146610:A:T 14613_13820_4607_K->M 0.000199681 239 chr15:34146976:T:G 14613_13870_4624_Y->D 0.000199681 239 chr15:34147039:C:A 14613_13933_4645_H->N 0.000199681 239 chr15:34150083:G:A 14613_14110_4704_E->K 0.00199681 239 chr15:34151865:G:T 14613_14232_4744_M->I 0.000199681 239 chr15:34157389:G:C 14613_14575_4859_D->H 0.000199681 239 na12878 Variants: 239 chr15:33905410:A:G 14613_2191_731_I->V 239 chr15:34016274:G:A 14613_6809_2270_G->E 239 chr15:33954652:C:T 14613_4921_1641_R->C 239 snyder Variants: 239 chr15:33905410:A:G 14613_2191_731_I->V 239 chr15:34016274:G:A 14613_6809_2270_G->E 239 chr15:33954652:C:T 14613_4921_1641_R->C 240 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166147_ENST00000316623 gene_Name: FBN1_HUMAN 240 list of pdbs: 240 2W86 pdb_description: 26-May-09 X-ray 1.800 Crystal structure of fibrillin-1 domains cbegf9hyb2cbegf10, calcium saturated form 240 2M74 pdb_description: 25-Sep-13 NMR 20 1h, 13c and 15n assignments of the four n-terminal domains o fibrillin-1 240 1UZQ pdb_description: 08-Apr-04 X-ray 2.400 Integrin binding cbegf22-tb4-cbegf33 fragment of human fibrillin-1, apo form cbegf23 domain only. 240 1UZP pdb_description: 08-Apr-04 X-ray 1.780 Integrin binding cbegf22-tb4-cbegf33 fragment of human fibrillin-1, sm bound form cbegf23 domain only. 240 1UZK pdb_description: 24-May-06 X-ray 1.350 Integrin binding cbegf22-tb4-cbegf33 fragment of human fibrillin-1, ca bound to cbegf23 domain only 240 1UZJ pdb_description: 08-Apr-04 X-ray 2.250 Integrin binding cbegf22-tb4-cbegf33 fragment of human fibrillin-1, holo form. 240 1LMJ pdb_description: 29-Apr-03 NMR 25 Nmr study of the fibrillin-1 cbegf12-13 pair of ca2+ binding epidermal growth factor-like domains 240 1EMO pdb_description: 23-Dec-96 NMR 22 Nmr study of a pair of fibrillin ca2+ binding epidermal growth factor-like domains, 22 structures 240 1EMN pdb_description: 23-Dec-96 NMR 1 Nmr study of a pair of fibrillin ca2+ binding epidermal growth factor-like domains, minimized average structure 240 1APJ pdb_description: 28-Jan-98 NMR 21 Nmr study of the transforming growth factor beta binding protein-like domain (tb module/8-cys domain), nmr, 21 structures 240 Zimmer Variants: 240 chr15:48807637:C:T 8616_1415_472_C->Y;GNEG=Yes;GENE=FBN1;CDSS=3;DBRECUR=FBN1 240 HGMD Variants: 240 chr15:48703204:G:A 8616_8599_2867_Q->* 240 chr15:48703256:A:C 8616_8547_2849_Y->* 240 chr15:48703267:C:A 8616_8536_2846_E->* 240 chr15:48703282:C:A 8616_8521_2841_E->* 240 chr15:48703285:T:A 8616_8518_2840_K->* 240 chr15:48703320:G:C 8616_8483_2828_S->* 240 chr15:48703381:G:A 8616_8422_2808_Q->* 240 chr15:48703424:G:C 8616_8379_2793_Y->* 240 chr15:48703477:G:A 8616_8326_2776_R->* 240 chr15:48703483:T:A 8616_8320_2774_K->* 240 chr15:48703535:C:T 8616_8268_2756_W->* 240 chr15:48703536:C:T 8616_8267_2756_W->* 240 chr15:48704768:C:A 8616_8224_2742_E->* 240 chr15:48704843:C:A 8616_8149_2717_E->* 240 chr15:48704866:G:C 8616_8126_2709_S->* 240 chr15:48704912:G:A 8616_8080_2694_R->* 240 chr15:48707774:G:C 8616_8010_2670_Y->* 240 chr15:48707807:G:T 8616_7977_2659_C->* 240 chr15:48707818:G:A 8616_7966_2656_Q->* 240 chr15:48712888:A:T 8616_7815_2605_C->* 240 chr15:48712897:C:T 8616_7806_2602_W->* 240 chr15:48712902:G:A 8616_7801_2601_Q->* 240 chr15:48712903:G:T 8616_7800_2600_Y->* 240 chr15:48712990:A:T 8616_7713_2571_C->* 240 chr15:48713784:G:T 8616_7670_2557_S->* 240 chr15:48713797:G:A 8616_7657_2553_Q->* 240 chr15:48713830:G:A 8616_7624_2542_Q->* 240 chr15:48713849:G:T 8616_7605_2535_C->* 240 chr15:48714179:C:A 8616_7540_2514_G->* 240 chr15:48717590:G:A 8616_7429_2477_Q->* 240 chr15:48717609:G:T 8616_7410_2470_C->* 240 chr15:48717620:G:A 8616_7399_2467_Q->* 240 chr15:48717621:G:T 8616_7398_2466_Y->* 240 chr15:48717680:C:A 8616_7339_2447_E->* 240 chr15:48717940:A:T 8616_7326_2442_C->* 240 chr15:48717991:A:T 8616_7275_2425_Y->* 240 chr15:48718026:G:A 8616_7240_2414_R->* 240 chr15:48719788:G:A 8616_7180_2394_R->* 240 chr15:48719827:G:A 8616_7141_2381_Q->* 240 chr15:48719856:C:T 8616_7112_2371_W->* 240 chr15:48720547:G:T 8616_6993_2331_C->* 240 chr15:48720634:A:T 8616_6906_2302_C->* 240 chr15:48720648:T:A 8616_6892_2298_K->* 240 chr15:48720654:G:A 8616_6886_2296_Q->* 240 chr15:48722898:G:A 8616_6841_2281_Q->* 240 chr15:48722955:G:A 8616_6784_2262_Q->* 240 chr15:48725067:G:T 8616_6735_2245_C->* 240 chr15:48725117:C:A 8616_6685_2229_E->* 240 chr15:48725144:G:A 8616_6658_2220_R->* 240 chr15:48726824:C:A 8616_6583_2195_G->* 240 chr15:48726827:C:A 8616_6580_2194_E->* 240 chr15:48726830:C:A 8616_6577_2193_E->* 240 chr15:48726842:C:A 8616_6565_2189_E->* 240 chr15:48726902:C:A 8616_6505_2169_E->* 240 chr15:48729559:A:C 8616_6339_2113_Y->* 240 chr15:48729559:A:T 8616_6339_2113_Y->* 240 chr15:48729573:G:A 8616_6325_2109_Q->* 240 chr15:48729989:C:A 8616_6289_2097_E->* 240 chr15:48730037:G:A 8616_6241_2081_Q->* 240 chr15:48730088:T:A 8616_6190_2064_K->* 240 chr15:48730092:A:C 8616_6186_2062_Y->* 240 chr15:48730092:A:T 8616_6186_2062_Y->* 240 chr15:48730109:G:A 8616_6169_2057_R->* 240 chr15:48733921:G:A 8616_6160_2054_Q->* 240 chr15:48733922:G:T 8616_6159_2053_C->* 240 chr15:48733994:G:T 8616_6087_2029_C->* 240 chr15:48737621:G:A 8616_5869_1957_Q->* 240 chr15:48737627:G:A 8616_5863_1955_Q->* 240 chr15:48737654:G:A 8616_5836_1946_Q->* 240 chr15:48737664:G:T 8616_5826_1942_C->* 240 chr15:48737681:C:A 8616_5809_1937_G->* 240 chr15:48741076:G:A 8616_5560_1854_Q->* 240 chr15:48744837:C:A 8616_5467_1823_E->* 240 chr15:48744850:G:T 8616_5454_1818_C->* 240 chr15:48744867:G:A 8616_5437_1813_Q->* 240 chr15:48748852:T:A 8616_5404_1802_K->* 240 chr15:48748870:C:A 8616_5386_1796_G->* 240 chr15:48748888:G:A 8616_5368_1790_R->* 240 chr15:48748942:C:A 8616_5314_1772_E->* 240 chr15:48752488:G:A 8616_5251_1751_Q->* 240 chr15:48755300:G:A 8616_5203_1735_Q->* 240 chr15:48755316:C:T 8616_5187_1729_W->* 240 chr15:48756100:G:T 8616_5061_1687_C->* 240 chr15:48757777:G:A 8616_4930_1644_R->* 240 chr15:48757819:G:A 8616_4888_1630_Q->* 240 chr15:48757855:G:A 8616_4852_1618_Q->* 240 chr15:48758017:G:A 8616_4786_1596_R->* 240 chr15:48758026:C:A 8616_4777_1593_E->* 240 chr15:48758053:C:A 8616_4750_1584_E->* 240 chr15:48760173:C:T 8616_4709_1570_W->* 240 chr15:48760261:G:A 8616_4621_1541_R->* 240 chr15:48760267:G:A 8616_4615_1539_R->* 240 chr15:48760280:G:T 8616_4602_1534_C->* 240 chr15:48760624:G:A 8616_4567_1523_R->* 240 chr15:48762861:C:A 8616_4429_1477_E->* 240 chr15:48766489:G:T 8616_4173_1391_C->* 240 chr15:48766536:G:A 8616_4126_1376_Q->*,1 240 chr15:48766566:C:A 8616_4096_1366_E->*,1 240 chr15:48766768:A:T 8616_4044_1348_C->* 240 chr15:48766839:C:A 8616_3973_1325_E->* 240 chr15:48773856:A:T 8616_3960_1320_C->* 240 chr15:48773911:G:T 8616_3905_1302_S->* 240 chr15:48776075:C:A 8616_3778_1260_E->* 240 chr15:48777607:C:A 8616_3676_1226_G->* 240 chr15:48777680:G:T 8616_3603_1201_C->* 240 chr15:48779315:G:T 8616_3546_1182_C->* 240 chr15:48779348:G:T 8616_3513_1171_C->* 240 chr15:48779552:G:T 8616_3420_1140_C->* 240 chr15:48779564:G:C 8616_3408_1136_Y->* 240 chr15:48779599:G:A 8616_3373_1125_R->* 240 chr15:48780343:C:A 8616_3304_1102_E->* 240 chr15:48780352:C:A 8616_3295_1099_E->* 240 chr15:48780362:G:T 8616_3285_1095_C->* 240 chr15:48780389:A:T 8616_3258_1086_C->* 240 chr15:48780641:G:T 8616_3132_1044_C->* 240 chr15:48780682:C:A 8616_3091_1031_E->* 240 chr15:48782118:G:C 8616_3012_1004_Y->* 240 chr15:48782150:C:A 8616_2980_994_E->* 240 chr15:48782234:C:A 8616_2896_966_E->* 240 chr15:48784749:A:T 8616_2763_921_C->* 240 chr15:48787416:G:A 8616_2581_861_R->* 240 chr15:48787434:G:A 8616_2563_855_Q->* 240 chr15:48787435:C:T 8616_2562_854_W->* 240 chr15:48787438:G:T 8616_2559_853_C->* 240 chr15:48787742:G:T 8616_2463_821_C->* 240 chr15:48787757:G:T 8616_2448_816_C->* 240 chr15:48787767:G:C 8616_2438_813_S->* 240 chr15:48787772:G:T 8616_2433_811_C->* 240 chr15:48787777:C:A 8616_2428_810_E->* 240 chr15:48788309:T:A 8616_2407_803_K->* 240 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chr15:48905251:C:G 8616_203_68_C->S 240 chr15:48905252:A:T 8616_202_68_C->S 240 chr15:48905255:A:G 8616_199_67_C->R 240 chr15:48905266:T:C 8616_188_63_Y->C 240 chr15:48905269:C:T 8616_185_62_R->H 240 chr15:48905270:G:A 8616_184_62_R->C 240 chr15:48905279:A:G 8616_175_59_C->R 240 chr15:48905285:T:C 8616_169_57_N->D 240 chr15:48936803:C:T 8616_164_55_G->E 240 chr15:48936803:C:G 8616_164_55_G->A 240 chr15:48936852:C:G 8616_115_39_A->P 240 chr15:48936908:T:C 8616_59_20_Y->C 240 chr15:48936935:A:C 8616_32_11_L->R 240 chr15:48936941:A:T 8616_26_9_I->N 240 chr15:48936966:T:A 8616_1_1_M->L 240 oneKG Variants: 240 chr15:48703261:T:G 8616_8542_2848_K->Q 0.000199681 240 chr15:48703280:T:A 8616_8523_2841_E->D 0.000199681 240 chr15:48703305:C:T 8616_8498_2833_S->N 0.000199681 240 chr15:48703308:C:T 8616_8495_2832_S->N 0.000199681 240 chr15:48703440:G:A 8616_8363_2788_T->M 0.000599042 240 chr15:48703503:T:C 8616_8300_2767_N->S 0.000199681 240 chr15:48704773:T:C 8616_8219_2740_N->S 0.000199681 240 chr15:48704807:T:G 8616_8185_2729_K->Q 0.00219649 240 chr15:48704815:C:T 8616_8177_2726_R->Q 0.000199681 240 chr15:48704816:G:A 8616_8176_2726_R->W 0.000199681 240 chr15:48704843:C:T 8616_8149_2717_E->K 0.000199681 240 chr15:48704932:A:G 8616_8060_2687_V->A 0.000199681 240 chr15:48707814:G:A 8616_7970_2657_A->V 0.000199681 240 chr15:48707820:G:A 8616_7964_2655_A->V 0.000599042 240 chr15:48707932:C:T 8616_7852_2618_G->R 0.000199681 240 chr15:48712976:C:T 8616_7727_2576_R->H 0.000199681 240 chr15:48713841:T:C 8616_7613_2538_K->R 0.000199681 240 chr15:48714151:A:G 8616_7568_2523_I->T 0.000199681 240 chr15:48714152:T:G 8616_7567_2523_I->L 0.000199681 240 chr15:48714264:A:C 8616_7455_2485_D->E 0.000199681 240 chr15:48717673:T:C 8616_7346_2449_N->S 0.000199681 240 chr15:48717983:A:G 8616_7283_2428_I->T 0.000199681 240 chr15:48718038:G:A 8616_7228_2410_H->Y 0.000199681 240 chr15:48718056:C:T 8616_7210_2404_D->N 0.000199681 240 chr15:48719896:C:T 8616_7072_2358_V->I 0.000998403 240 chr15:48720553:G:C 8616_6987_2329_D->E 0.00139776 240 chr15:48720608:C:T 8616_6932_2311_R->H 0.000199681 240 chr15:48722880:C:G 8616_6859_2287_E->Q 0.000199681 240 chr15:48722907:G:A 8616_6832_2278_P->S 0.0135783 240 chr15:48725102:C:T 8616_6700_2234_V->M 0.000199681 240 chr15:48726805:A:C 8616_6602_2201_M->R 0.000199681 240 chr15:48729161:C:A 8616_6493_2165_V->L 0.000199681 240 chr15:48729206:G:A 8616_6448_2150_R->C 0.000199681 240 chr15:48729549:T:C 8616_6349_2117_I->V 0.000199681 240 chr15:48729560:T:A 8616_6338_2113_Y->F 0.000199681 240 chr15:48729976:G:A 8616_6302_2101_T->M 0.000599042 240 chr15:48730108:C:T 8616_6170_2057_R->Q 0.000199681 240 chr15:48733971:T:C 8616_6110_2037_K->R 0.000199681 240 chr15:48734008:C:A 8616_6073_2025_A->S 0.00199681 240 chr15:48736780:T:C 8616_5995_1999_I->V 0.000199681 240 chr15:48736812:G:A 8616_5963_1988_T->I 0.000199681 240 chr15:48741013:G:A 8616_5623_1875_L->F 0.000199681 240 chr15:48741033:G:A 8616_5603_1868_T->I 0.000199681 240 chr15:48744837:C:T 8616_5467_1823_E->K 0.000199681 240 chr15:48755434:A:C 8616_5069_1690_M->R 0.000199681 240 chr15:48757813:G:A 8616_4894_1632_R->C 0.000199681 240 chr15:48758053:C:T 8616_4750_1584_E->K 0.000998403 240 chr15:48760242:G:A 8616_4640_1547_T->I 0.000399361 240 chr15:48762849:T:C 8616_4441_1481_S->G 0.000998403 240 chr15:48764756:G:A 8616_4328_1443_A->V 0.000199681 240 chr15:48764778:C:T 8616_4306_1436_V->M 0.00159744 240 chr15:48764781:A:G 8616_4303_1435_F->L 0.000199681 240 chr15:48764807:C:G 8616_4277_1426_G->A 0.000199681 240 chr15:48766737:T:C 8616_4075_1359_I->V,1 0.000199681 240 chr15:48766755:C:A 8616_4057_1353_G->W,1 0.000199681 240 chr15:48766811:C:T 8616_4001_1334_G->D 0.000199681 240 chr15:48773926:T:C 8616_3890_1297_E->G 0.00159744 240 chr15:48773949:A:C 8616_3867_1289_N->K 0.000199681 240 chr15:48773971:T:C 8616_3845_1282_N->S 0.000199681 240 chr15:48776113:T:A 8616_3740_1247_N->I 0.000199681 240 chr15:48779347:C:T 8616_3514_1172_V->M 0.000199681 240 chr15:48779352:C:T 8616_3509_1170_R->H 0.000798722 240 chr15:48779517:G:A 8616_3455_1152_A->V 0.000199681 240 chr15:48779518:C:T 8616_3454_1152_A->T 0.000199681 240 chr15:48779530:G:C 8616_3442_1148_P->A 0.0597045 240 chr15:48779550:G:A 8616_3422_1141_P->L 0.000399361 240 chr15:48779604:A:T 8616_3368_1123_L->Q 0.000199681 240 chr15:48780424:G:A 8616_3223_1075_R->C 0.000199681 240 chr15:48780673:T:C 8616_3100_1034_M->V 0.000199681 240 chr15:48780684:T:C 8616_3089_1030_N->S 0.000998403 240 chr15:48782053:A:G 8616_3077_1026_F->S 0.000399361 240 chr15:48782072:T:C 8616_3058_1020_T->A 0.000599042 240 chr15:48782087:C:T 8616_3043_1015_A->T 0.000199681 240 chr15:48782112:C:A 8616_3018_1006_E->D 0.000199681 240 chr15:48782117:C:T 8616_3013_1005_E->K 0.000199681 240 chr15:48782174:C:T 8616_2956_986_A->T 0.000199681 240 chr15:48782196:G:C 8616_2934_978_D->E 0.00119808 240 chr15:48782203:C:T 8616_2927_976_R->H 0.000399361 240 chr15:48782204:G:A 8616_2926_976_R->C 0.000199681 240 chr15:48784700:G:T 8616_2812_938_P->T 0.000199681 240 chr15:48784720:C:G 8616_2792_931_G->A 0.000199681 240 chr15:48784739:G:C 8616_2773_925_L->V 0.000199681 240 chr15:48784759:G:C 8616_2753_918_P->R 0.000199681 240 chr15:48784766:C:T 8616_2746_916_V->M 0.000199681 240 chr15:48784781:T:C 8616_2731_911_I->V 0.000199681 240 chr15:48787391:G:T 8616_2606_869_A->D 0.000199681 240 chr15:48789559:T:C 8616_2197_733_I->V 0.000199681 240 chr15:48789568:C:T 8616_2188_730_D->N 0.000199681 240 chr15:48802279:G:A 8616_1676_559_A->V 0.000199681 240 chr15:48807637:C:T 8616_1415_472_C->Y 0.0 240 chr15:48808391:C:T 8616_1316_439_R->Q 0.000199681 240 chr15:48808431:G:A 8616_1276_426_P->S 0.000199681 240 chr15:48808442:C:T 8616_1265_422_G->E 0.000399361 240 chr15:48808532:G:C 8616_1175_392_P->R 0.000199681 240 chr15:48808549:G:C 8616_1158_386_N->K 0.000199681 240 chr15:48812912:C:T 8616_1091_364_R->Q 0.000199681 240 chr15:48812972:C:A 8616_1031_344_R->L 0.000199681 240 chr15:48812976:C:T 8616_1027_343_G->R 0.000199681 240 chr15:48818329:A:G 8616_986_329_I->T 0.0081869 240 chr15:48818413:C:A 8616_902_301_G->V 0.000199681 240 chr15:48818430:A:C 8616_885_295_I->M 0.000199681 240 chr15:48826312:C:T 8616_827_276_G->E 0.000199681 240 chr15:48826315:G:T 8616_824_275_A->D 0.000199681 240 chr15:48826343:C:T 8616_796_266_V->I 0.000199681 240 chr15:48829924:G:A 8616_620_207_T->M 0.000199681 240 chr15:48829969:T:C 8616_575_192_N->S 0.000199681 240 chr15:48892427:T:A 8616_351_117_Q->H 0.000199681 240 chr15:48936863:T:C 8616_104_35_K->R 0.000199681 240 chr15:48936888:C:T 8616_79_27_A->T 0.00119808 240 chr15:48936908:T:C 8616_59_20_Y->C 0.000199681 240 na12878 Variants: 240 chr15:48807637:C:T 8616_1415_472_C->Y 240 snyder Variants: 240 chr15:48807637:C:T 8616_1415_472_C->Y 241 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000166813_ENST00000394412 gene_Name: KIF7_HUMAN 241 list of pdbs: 241 4A14 pdb_description: 25-Jan-12 X-ray 1.600 Human kif7, a kinesin involved in hedgehog signalling 241 2XT3 pdb_description: 14-Dec-11 X-ray 1.880 Human kif7, a kinesin involved in hedgehog signalling 241 Zimmer Variants: 241 chr15:90176073:C:A 4032_2873_958_S->I;GNEG=Yes;GENE=KIF7;CDSS=3 241 chr15:90174824:C:T 4032_3013_1005_G->R;GNEG=Yes;GENE=KIF7;CDSS=2 241 chr15:90191827:T:C 4032_1102_368_T->A;GNEG=Yes;GENE=KIF7;CDSS=2 241 HGMD Variants: 241 chr15:90172792:G:A 4032_3331_1111_R->* 241 chr15:90174836:G:A 4032_3001_1001_Q->* 241 chr15:90185556:C:A 4032_2272_758_E->* 241 chr15:90193041:G:A 4032_460_154_R->* 241 chr15:90196095:G:A 4032_67_23_R->* 241 chr15:90172778:G:C 4032_3345_1115_H->Q 241 chr15:90173634:G:A 4032_3202_1068_R->W 241 chr15:90173657:T:C 4032_3179_1060_N->S 241 chr15:90174856:T:C 4032_2981_994_Q->R 241 chr15:90177008:T:C 4032_2501_834_Q->R 241 chr15:90185552:A:G 4032_2276_759_L->P 241 chr15:90185556:C:T 4032_2272_758_E->K 241 chr15:90188330:C:T 4032_2105_702_R->Q 241 chr15:90189125:T:C 4032_1921_641_R->G 241 chr15:90189151:G:A 4032_1895_632_P->L 241 oneKG Variants: 241 chr15:90191594:G:T 4032_1335_445_C->* 0.000199681 241 chr15:90196005:G:A 4032_157_53_R->* 0.000199681 241 chr15:90171684:G:T 4032_3998_1333_P->Q 0.000998403 241 chr15:90171708:C:T 4032_3974_1325_R->Q 0.000199681 241 chr15:90171714:T:C 4032_3968_1323_K->R 0.000199681 241 chr15:90171718:A:G 4032_3964_1322_S->P 0.000399361 241 chr15:90171739:G:A 4032_3943_1315_P->S 0.000199681 241 chr15:90171768:C:T 4032_3914_1305_R->Q 0.000199681 241 chr15:90171831:C:G 4032_3851_1284_G->A 0.000399361 241 chr15:90171840:C:A 4032_3842_1281_S->I 0.00199681 241 chr15:90171897:C:A 4032_3785_1262_R->L 0.000199681 241 chr15:90171922:G:T 4032_3760_1254_L->I 0.000199681 241 chr15:90171927:G:A 4032_3755_1252_S->F 0.000199681 241 chr15:90171940:G:C 4032_3742_1248_L->V 0.000199681 241 chr15:90172005:C:T 4032_3677_1226_R->K 0.000199681 241 chr15:90172234:C:T 4032_3637_1213_G->S 0.000199681 241 chr15:90172294:G:T 4032_3577_1193_L->M 0.000199681 241 chr15:90172642:C:T 4032_3481_1161_E->K 0.000399361 241 chr15:90172650:T:C 4032_3473_1158_K->R 0.000199681 241 chr15:90172659:A:G 4032_3464_1155_L->P 0.000199681 241 chr15:90172693:G:A 4032_3430_1144_R->W 0.000199681 241 chr15:90172758:G:C 4032_3365_1122_S->W 0.000199681 241 chr15:90172778:G:C 4032_3345_1115_H->Q 0.00579073 241 chr15:90172797:G:A 4032_3326_1109_T->M 0.000199681 241 chr15:90173521:G:T 4032_3315_1105_D->E 0.000199681 241 chr15:90173616:C:A 4032_3220_1074_A->S 0.000199681 241 chr15:90173625:G:A 4032_3211_1071_R->W 0.000199681 241 chr15:90173634:G:A 4032_3202_1068_R->W 0.000199681 241 chr15:90173640:G:A 4032_3196_1066_R->C 0.000199681 241 chr15:90174750:C:G 4032_3087_1029_R->S 0.000199681 241 chr15:90174790:G:A 4032_3047_1016_S->L 0.000199681 241 chr15:90174824:C:T 4032_3013_1005_G->R 0.439297 241 chr15:90174847:G:T 4032_2990_997_A->D 0.000199681 241 chr15:90174856:T:C 4032_2981_994_Q->R 0.00219649 241 chr15:90174860:G:A 4032_2977_993_R->W 0.000199681 241 chr15:90174878:C:T 4032_2959_987_E->K 0.000399361 241 chr15:90174902:C:T 4032_2935_979_E->K 0.000199681 241 chr15:90174920:G:C 4032_2917_973_R->G 0.000199681 241 chr15:90174923:C:T 4032_2914_972_V->M 0.000399361 241 chr15:90176059:A:C 4032_2887_963_S->A 0.000199681 241 chr15:90176073:C:A 4032_2873_958_S->I 0.438299 241 chr15:90176085:G:A 4032_2861_954_T->M 0.00119808 241 chr15:90176131:G:A 4032_2815_939_R->W 0.000399361 241 chr15:90176146:C:T 4032_2800_934_E->K 0.000199681 241 chr15:90176415:C:T 4032_2675_892_R->H 0.000199681 241 chr15:90176416:G:A 4032_2674_892_R->C 0.000199681 241 chr15:90176481:T:C 4032_2609_870_H->R 0.000199681 241 chr15:90176924:C:T 4032_2585_862_R->H 0.000199681 241 chr15:90176949:C:A 4032_2560_854_A->S 0.000199681 241 chr15:90176958:G:A 4032_2551_851_R->C 0.000399361 241 chr15:90176960:C:A 4032_2549_850_R->L 0.00199681 241 chr15:90176972:G:T 4032_2537_846_T->K 0.000399361 241 chr15:90177008:T:C 4032_2501_834_Q->R 0.000998403 241 chr15:90177032:C:T 4032_2477_826_R->Q 0.000798722 241 chr15:90177033:G:A 4032_2476_826_R->W 0.000199681 241 chr15:90177036:C:G 4032_2473_825_E->Q 0.000199681 241 chr15:90177051:G:C 4032_2458_820_R->G 0.000199681 241 chr15:90185435:T:C 4032_2393_798_Q->R 0.000199681 241 chr15:90185464:C:G 4032_2364_788_R->S 0.00199681 241 chr15:90185473:C:G 4032_2355_785_E->D 0.000199681 241 chr15:90185493:C:G 4032_2335_779_E->Q 0.00259585 241 chr15:90185529:G:A 4032_2299_767_R->W 0.000399361 241 chr15:90185556:C:T 4032_2272_758_E->K 0.000199681 241 chr15:90185562:G:A 4032_2266_756_R->W 0.000199681 241 chr15:90185610:G:C 4032_2218_740_Q->E 0.000199681 241 chr15:90188259:C:T 4032_2176_726_E->K 0.000199681 241 chr15:90188262:C:T 4032_2173_725_G->S 0.000599042 241 chr15:90188283:G:A 4032_2152_718_R->C 0.000798722 241 chr15:90188351:G:A 4032_2084_695_P->L 0.000199681 241 chr15:90188358:C:A 4032_2077_693_V->F 0.000199681 241 chr15:90188361:G:C 4032_2074_692_Q->E 0.00159744 241 chr15:90188364:G:A 4032_2071_691_R->C 0.000199681 241 chr15:90188375:C:T 4032_2060_687_R->Q 0.000798722 241 chr15:90188591:C:G 4032_2014_672_D->H 0.000199681 241 chr15:90188644:C:T 4032_1961_654_R->H 0.000998403 241 chr15:90189140:T:C 4032_1906_636_T->A 0.000199681 241 chr15:90189151:G:A 4032_1895_632_P->L 0.00978435 241 chr15:90189161:C:T 4032_1885_629_E->K 0.000998403 241 chr15:90189239:C:T 4032_1807_603_E->K 0.000199681 241 chr15:90190110:G:A 4032_1739_580_P->L 0.000199681 241 chr15:90190114:C:A 4032_1735_579_V->L 0.000199681 241 chr15:90190141:C:G 4032_1708_570_G->R 0.000199681 241 chr15:90190152:G:C 4032_1697_566_A->G 0.000199681 241 chr15:90190162:G:A 4032_1687_563_P->S 0.000199681 241 chr15:90190186:G:A 4032_1663_555_P->S 0.000599042 241 chr15:90190897:G:A 4032_1490_497_A->V 0.000199681 241 chr15:90191500:C:T 4032_1429_477_A->T 0.00279553 241 chr15:90191539:T:C 4032_1390_464_I->V 0.000399361 241 chr15:90191659:G:A 4032_1270_424_R->C 0.00139776 241 chr15:90191740:C:T 4032_1189_397_A->T 0.0111821 241 chr15:90191752:C:A 4032_1177_393_G->C 0.000199681 241 chr15:90191788:C:T 4032_1141_381_E->K 0.000199681 241 chr15:90191799:C:T 4032_1130_377_R->Q 0.000199681 241 chr15:90191805:G:A 4032_1124_375_P->L 0.000199681 241 chr15:90191827:T:C 4032_1102_368_T->A 0.138578 241 chr15:90191902:C:T 4032_1027_343_A->T 0.000199681 241 chr15:90192212:T:C 4032_916_306_I->V 0.000199681 241 chr15:90192259:C:T 4032_869_290_G->E 0.000199681 241 chr15:90192418:C:A 4032_710_237_R->L 0.000798722 241 chr15:90192483:G:T 4032_645_215_S->R 0.000199681 241 chr15:90192981:C:T 4032_520_174_G->R 0.0 241 chr15:90192984:G:A 4032_517_173_R->C 0.000199681 241 chr15:90193040:C:T 4032_461_154_R->Q 0.000599042 241 chr15:90193076:T:C 4032_425_142_H->R 0.000199681 241 chr15:90195836:A:G 4032_326_109_V->A 0.000599042 241 chr15:90195903:T:G 4032_259_87_N->H 0.000599042 241 chr15:90195944:G:T 4032_218_73_A->D 0.000199681 241 chr15:90195966:C:T 4032_196_66_G->R 0.000199681 241 chr15:90196008:C:T 4032_154_52_D->N 0.242412 241 chr15:90196010:C:T 4032_152_51_R->H 0.000199681 241 chr15:90196026:G:A 4032_136_46_R->C 0.000199681 241 chr15:90196113:G:A 4032_49_17_R->W 0.00519169 241 chr15:90196133:C:T 4032_29_10_G->E 0.000399361 241 na12878 Variants: 241 chr15:90196008:C:T 4032_154_52_D->N 241 chr15:90191827:T:C 4032_1102_368_T->A 241 snyder Variants: 241 chr15:90176073:C:A 4032_2873_958_S->I 241 chr15:90174824:C:T 4032_3013_1005_G->R 241 chr15:90191827:T:C 4032_1102_368_T->A 242 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186395_ENST00000269576 gene_Name: K1C10_HUMAN 242 list of pdbs: 242 4F1Z pdb_description: 08-Aug-12 X-ray 2.300 Crystal structures reveal the multi-ligand binding mechanism staphylococcus aureus clfb 242 3ASW pdb_description: 04-May-11 X-ray 2.600 Structural and biochemical characterization of clfb:ligand interactions 242 Zimmer Variants: 242 chr17:38978536:A:C 1755_302_101_I->S;GNEG=Yes;GENE=KRT10;CDSS=3 242 HGMD Variants: 242 chr17:38975842:G:A 1755_1300_434_Q->* 242 chr17:38976784:A:T 1755_846_282_Y->* 242 chr17:38975772:C:A 1755_1370_457_G->V 242 chr17:38975784:A:G 1755_1358_453_L->P 242 chr17:38975787:A:G 1755_1355_452_L->P 242 chr17:38975793:C:G 1755_1349_450_R->P 242 chr17:38975796:T:C 1755_1346_449_Y->C 242 chr17:38975797:A:C 1755_1345_449_Y->D 242 chr17:38975802:T:G 1755_1340_447_Q->P 242 chr17:38975805:A:G 1755_1337_446_I->T 242 chr17:38975809:C:T 1755_1333_445_E->K 242 chr17:38975817:A:T 1755_1325_442_L->Q 242 chr17:38975827:T:C 1755_1315_439_K->E 242 chr17:38978356:A:G 1755_482_161_L->S 242 chr17:38978359:T:G 1755_479_160_Y->S 242 chr17:38978360:A:C 1755_478_160_Y->D 242 chr17:38978360:A:T 1755_478_160_Y->N 242 chr17:38978366:C:G 1755_472_158_A->P 242 chr17:38978368:A:G 1755_470_157_L->P 242 chr17:38978371:C:A 1755_467_156_R->L 242 chr17:38978371:C:G 1755_467_156_R->P 242 chr17:38978371:C:T 1755_467_156_R->H 242 chr17:38978372:G:A 1755_466_156_R->C 242 chr17:38978372:G:C 1755_466_156_R->G 242 chr17:38978372:G:T 1755_466_156_R->S 242 chr17:38978378:T:G 1755_460_154_N->H 242 chr17:38978381:G:C 1755_457_153_L->V 242 chr17:38978386:T:G 1755_452_151_Q->P 242 chr17:38978389:A:G 1755_449_150_M->T 242 chr17:38978389:A:C 1755_449_150_M->R 242 oneKG Variants: 242 chr17:38975063:C:A 1755_1724_575_G->V 0.00119808 242 chr17:38975111:C:A 1755_1676_559_G->V 0.00179712 242 chr17:38975186:C:A 1755_1601_534_S->I 0.00139776 242 chr17:38975190:C:T 1755_1597_533_G->S 0.00519169 242 chr17:38975292:A:G 1755_1495_499_Y->H 0.000798722 242 chr17:38975328:G:A 1755_1459_487_H->Y 0.302915 242 chr17:38975345:C:T 1755_1442_481_G->E 0.000599042 242 chr17:38975376:C:G 1755_1411_471_G->R 0.000399361 242 chr17:38975394:C:T 1755_1393_465_G->S 0.000199681 242 chr17:38976543:T:G 1755_1000_334_K->Q 0.000199681 242 chr17:38976818:A:G 1755_812_271_M->T 0.000199681 242 chr17:38976896:C:T 1755_734_245_R->H 0.000199681 242 chr17:38976917:T:C 1755_713_238_Y->C 0.000199681 242 chr17:38977344:G:A 1755_653_218_A->V 0.000199681 242 chr17:38978264:C:T 1755_574_192_E->K 0.000199681 242 chr17:38978302:T:G 1755_536_179_K->T 0.000199681 242 chr17:38978410:G:T 1755_428_143_S->Y 0.000199681 242 chr17:38978462:C:T 1755_376_126_G->S 0.132788 242 chr17:38978467:C:A 1755_371_124_G->V 0.000199681 242 chr17:38978474:A:G 1755_364_122_F->L 0.000199681 242 chr17:38978492:T:C 1755_346_116_S->G 0.000199681 242 chr17:38978533:A:G 1755_305_102_F->S 0.00259585 242 chr17:38978536:A:C 1755_302_101_I->S 0.000799 242 chr17:38978581:C:T 1755_257_86_R->H 0.00139776 242 chr17:38978713:G:A 1755_125_42_S->F 0.000199681 242 chr17:38978764:C:A 1755_74_25_C->F 0.000199681 242 chr17:38978767:C:T 1755_71_24_G->E 0.000399361 242 chr17:38978794:C:T 1755_44_15_R->H 0.00179712 242 chr17:38978827:C:G 1755_11_4_R->P 0.000199681 242 na12878 Variants: 242 chr17:38978536:A:C 1755_302_101_I->S 242 snyder Variants: 242 chr17:38978536:A:C 1755_302_101_I->S 243 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000012048_ENST00000352993 gene_Name: BRCA1_HUMAN 243 list of pdbs: 243 3PXE pdb_description: 20-Apr-11 X-ray 2.850 Impact of brca1 brct domain missense substitutions on phosph recognition: e1836k 243 3PXD pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1835p 243 3PXC pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1699q 243 3PXB pdb_description: 20-Apr-11 X-ray 2.500 Impact of brca1 brct domain missense substitutions on phosph recognition: t1700a 243 3PXA pdb_description: 20-Apr-11 X-ray 2.550 Impact of brca1 brct domain missense substitutions on phosph recognition: g1656d 243 3K16 pdb_description: 02-Mar-10 X-ray 3.000 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with a free carboxy c-terminus 243 3K15 pdb_description: 02-Mar-10 X-ray 2.800 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with an amidated c-terminus 243 3K0K pdb_description: 02-Mar-10 X-ray 2.700 Crystal structure of brca1 brct in complex with a minimal re tetrapeptide with a free carboxy c-terminus. 243 3K0H pdb_description: 02-Mar-10 X-ray 2.700 The crystal structure of brca1 brct in complex with a minima recognition tetrapeptide with an amidated c-terminus 243 2ING pdb_description: 04-Sep-07 X-ray 3.600 X-ray structure of the brca1 brct mutant m1775k 243 1Y98 pdb_description: 30-Aug-05 X-ray 2.500 Structure of the brct repeats of brca1 bound to a ctip phosphopeptide. 243 1T2V pdb_description: 11-May-04 X-ray 3.300 Structural basis of phospho-peptide recognition by the brct brca1, structure with phosphopeptide 243 1T2U pdb_description: 11-May-04 X-ray 2.800 Structural basis of phosphopeptide recognition by the brct d brca1: structure of brca1 missense variant v1809f 243 1T29 pdb_description: 11-May-04 X-ray 2.300 Crystal structure of the brca1 brct repeats bound to a phosphorylated bach1 peptide 243 1T15 pdb_description: 11-May-04 X-ray 1.850 Crystal structure of the brca1 brct domains in complex with the phosphorylated interacting region from bach1 helicase 243 1OQA pdb_description: 15-Jun-04 NMR 15 Solution structure of the brct-c domain from human brca1 243 1N5O pdb_description: 25-Dec-02 X-ray 2.800 Structural consequences of a cancer-causing brca1-brct misse mutation 243 1JNX pdb_description: 21-Sep-01 X-ray 2.500 Crystal structure of the brct repeat region from the breast cancer associated protein, brca1 243 1JM7 pdb_description: 03-Oct-01 NMR 14 Solution structure of the brca1/bard1 ring-domain heterodimer 243 3COJ pdb_description: 27-May-08 X-ray 3.210 Crystal structure of the brct domains of human brca1 in comp phosphorylated peptide from human acetyl-coa carboxylase 1 243 Zimmer Variants: 243 chr17:41223094:T:C 2166_1411_471_S->G 243 HGMD Variants: 243 chr17:41197728:G:C 2166_2133_711_Y->* 243 chr17:41197746:G:T 2166_2115_705_C->* 243 chr17:41197751:G:A 2166_2110_704_Q->* 243 chr17:41197776:C:T 2166_2085_695_W->* 243 chr17:41197777:C:T 2166_2084_695_W->* 243 chr17:41197781:C:A 2166_2080_694_E->* 243 chr17:41197784:G:A 2166_2077_693_R->* 243 chr17:41199678:C:A 2166_2023_675_E->* 243 chr17:41199682:C:T 2166_2019_673_W->* 243 chr17:41199683:C:T 2166_2018_673_W->* 243 chr17:41199696:G:A 2166_2005_669_Q->* 243 chr17:41201157:G:T 2166_1961_654_S->* 243 chr17:41201167:T:A 2166_1951_651_K->* 243 chr17:41201191:G:A 2166_1927_643_Q->* 243 chr17:41201198:C:T 2166_1920_640_W->* 243 chr17:41201199:C:T 2166_1919_640_W->* 243 chr17:41201203:C:A 2166_1915_639_E->* 243 chr17:41201209:G:A 2166_1909_637_Q->* 243 chr17:41203105:A:T 2166_1881_627_Y->* 243 chr17:41203119:C:A 2166_1867_623_E->* 243 chr17:41209074:T:A 2166_1846_616_R->* 243 chr17:41209080:G:A 2166_1840_614_Q->* 243 chr17:41209086:C:A 2166_1834_612_E->* 243 chr17:41209095:G:A 2166_1825_609_R->* 243 chr17:41215364:T:A 2166_1753_585_K->* 243 chr17:41215370:C:A 2166_1747_583_E->* 243 chr17:41215382:G:A 2166_1735_579_Q->* 243 chr17:41215389:C:T 2166_1728_576_W->* 243 chr17:41215390:C:T 2166_1727_576_W->* 243 chr17:41215895:A:C 2166_1722_574_Y->* 243 chr17:41215907:C:T 2166_1710_570_W->* 243 chr17:41215915:C:A 2166_1702_568_G->* 243 chr17:41215934:A:C 2166_1683_561_Y->* 243 chr17:41215939:T:A 2166_1678_560_K->* 243 chr17:41215963:C:A 2166_1654_552_E->* 243 chr17:41219631:T:A 2166_1642_548_K->* 243 chr17:41219652:C:A 2166_1621_541_E->* 243 chr17:41219700:T:A 2166_1573_525_K->* 243 chr17:41219701:G:T 2166_1572_524_Y->* 243 chr17:41222950:C:A 2166_1555_519_E->* 243 chr17:41222989:T:A 2166_1516_506_K->* 243 chr17:41223001:C:A 2166_1504_502_E->* 243 chr17:41223028:C:A 2166_1477_493_E->* 243 chr17:41223121:G:A 2166_1384_462_Q->* 243 chr17:41223130:T:A 2166_1375_459_K->* 243 chr17:41223144:G:T 2166_1361_454_S->* 243 chr17:41223171:G:C 2166_1334_445_S->* 243 chr17:41223190:C:A 2166_1315_439_E->* 243 chr17:41223242:G:T 2166_1263_421_Y->* 243 chr17:41223242:G:C 2166_1263_421_Y->* 243 chr17:41223253:C:A 2166_1252_418_G->* 243 chr17:41226367:G:C 2166_1230_410_Y->* 243 chr17:41226402:C:A 2166_1195_399_E->* 243 chr17:41226411:G:A 2166_1186_396_Q->* 243 chr17:41226414:G:A 2166_1183_395_Q->* 243 chr17:41226420:C:A 2166_1177_393_E->* 243 chr17:41226450:G:A 2166_1147_383_Q->* 243 chr17:41226457:G:T 2166_1140_380_Y->* 243 chr17:41226471:G:A 2166_1126_376_Q->* 243 chr17:41226499:C:T 2166_1098_366_W->* 243 chr17:41226500:C:T 2166_1097_366_W->* 243 chr17:41226515:G:T 2166_1082_361_S->* 243 chr17:41226520:G:T 2166_1077_359_C->* 243 chr17:41226536:G:C 2166_1061_354_S->* 243 chr17:41228509:C:A 2166_1054_352_E->* 243 chr17:41228590:G:A 2166_973_325_Q->* 243 chr17:41228600:G:T 2166_963_321_Y->* 243 chr17:41228614:T:A 2166_949_317_K->* 243 chr17:41228617:G:A 2166_946_316_Q->* 243 chr17:41234439:G:A 2166_913_305_Q->* 243 chr17:41234451:G:A 2166_901_301_R->* 243 chr17:41234491:G:T 2166_861_287_Y->* 243 chr17:41234520:G:A 2166_832_278_Q->* 243 chr17:41234525:A:C 2166_827_276_L->* 243 chr17:41234535:C:A 2166_817_273_E->* 243 chr17:41234541:C:A 2166_811_271_E->* 243 chr17:41234550:C:A 2166_802_268_E->* 243 chr17:41234556:G:A 2166_796_266_Q->* 243 chr17:41234577:G:A 2166_775_259_Q->* 243 chr17:41234592:G:A 2166_760_254_Q->* 243 chr17:41242963:G:A 2166_757_253_Q->* 243 chr17:41242998:G:C 2166_722_241_S->* 243 chr17:41243029:C:A 2166_691_231_E->* 243 chr17:41243030:A:T 2166_690_230_C->* 243 chr17:41247917:G:A 2166_616_206_Q->* 243 chr17:41251819:G:A 2166_520_174_Q->* 243 chr17:41251825:G:A 2166_514_172_Q->* 243 chr17:41251834:G:A 2166_505_169_Q->* 243 chr17:41251876:G:A 2166_463_155_Q->* 243 chr17:41256153:C:A 2166_427_143_E->* 243 chr17:41256190:G:T 2166_390_130_Y->* 243 chr17:41256277:A:C 2166_303_101_Y->* 243 chr17:41256936:C:A 2166_250_84_E->* 243 chr17:41256945:G:A 2166_241_81_Q->* 243 chr17:41256966:G:A 2166_220_74_Q->* 243 chr17:41258497:A:T 2166_188_63_L->* 243 chr17:41258507:G:A 2166_178_60_Q->* 243 chr17:41267788:A:T 2166_89_30_L->* 243 chr17:41267792:C:A 2166_85_29_E->* 243 chr17:41276059:G:A 2166_55_19_Q->* 243 chr17:41276080:G:A 2166_34_12_Q->* 243 chr17:41276106:A:C 2166_8_3_L->* 243 chr17:41197714:A:G 2166_2147_716_I->T 243 chr17:41197729:T:C 2166_2132_711_Y->C 243 chr17:41197765:C:T 2166_2096_699_S->N 243 chr17:41197766:T:G 2166_2095_699_S->R 243 chr17:41197774:A:T 2166_2087_696_V->E 243 chr17:41197778:A:G 2166_2083_695_W->R 243 chr17:41197778:A:C 2166_2083_695_W->G 243 chr17:41197790:C:T 2166_2071_691_V->M 243 chr17:41199660:C:T 2166_2041_681_A->T 243 chr17:41199660:C:T 2166_2041_681_A->T 243 chr17:41199674:T:C 2166_2027_676_D->G 243 chr17:41199693:G:C 2166_2008_670_P->A 243 chr17:41199695:T:C 2166_2006_669_Q->R 243 chr17:41199698:A:C 2166_2003_668_V->G 243 chr17:41199701:A:G 2166_2000_667_V->A 243 chr17:41199702:C:A 2166_1999_667_V->F 243 chr17:41199713:T:G 2166_1988_663_H->P 243 chr17:41199716:A:T 2166_1985_662_V->D 243 chr17:41199719:C:G 2166_1982_661_G->A 243 chr17:41201162:C:A 2166_1956_652_E->D 243 chr17:41201179:C:T 2166_1939_647_A->T 243 chr17:41201179:C:A 2166_1939_647_A->S 243 chr17:41201181:C:A 2166_1937_646_G->V 243 chr17:41201181:C:T 2166_1937_646_G->D 243 chr17:41201182:C:A 2166_1936_646_G->C 243 chr17:41201185:A:T 2166_1933_645_C->S 243 chr17:41201189:C:A 2166_1929_643_Q->H 243 chr17:41201196:A:G 2166_1922_641_M->T 243 chr17:41201205:A:G 2166_1913_638_L->P 243 chr17:41203080:C:G 2166_1906_636_D->H 243 chr17:41203080:C:A 2166_1906_636_D->Y 243 chr17:41203080:C:T 2166_1906_636_D->N 243 chr17:41203080:C:A 2166_1906_636_D->Y 243 chr17:41203088:A:T 2166_1898_633_M->K 243 chr17:41203088:A:C 2166_1898_633_M->R 243 chr17:41203095:T:A 2166_1891_631_T->S 243 chr17:41203103:C:A 2166_1883_628_G->V 243 chr17:41203115:A:C 2166_1871_624_I->S 243 chr17:41203121:A:G 2166_1865_622_L->P 243 chr17:41209088:C:T 2166_1832_611_R->K 243 chr17:41209088:C:G 2166_1832_611_R->T 243 chr17:41209092:C:G 2166_1828_610_A->P 243 chr17:41209094:C:T 2166_1826_609_R->Q 243 chr17:41209094:C:G 2166_1826_609_R->P 243 chr17:41209100:G:C 2166_1820_607_P->R 243 chr17:41209101:G:C 2166_1819_607_P->A 243 chr17:41209103:C:T 2166_1817_606_G->D 243 chr17:41209104:C:T 2166_1816_606_G->S 243 chr17:41209105:T:G 2166_1815_605_Q->H 243 chr17:41209109:T:G 2166_1811_604_H->P 243 chr17:41209110:G:T 2166_1810_604_H->N 243 chr17:41209124:A:C 2166_1796_599_V->G 243 chr17:41209129:A:C 2166_1791_597_D->E 243 chr17:41209130:T:C 2166_1790_597_D->G 243 chr17:41209130:T:A 2166_1790_597_D->V 243 chr17:41209131:C:A 2166_1789_597_D->Y 243 chr17:41209133:C:T 2166_1787_596_G->E 243 chr17:41209134:C:T 2166_1786_596_G->R 243 chr17:41209139:A:G 2166_1781_594_V->A 243 chr17:41209143:C:T 2166_1777_593_E->K 243 chr17:41209145:A:G 2166_1775_592_F->S 243 chr17:41215389:C:G 2166_1728_576_W->C 243 chr17:41215390:C:G 2166_1727_576_W->S 243 chr17:41215390:C:A 2166_1727_576_W->L 243 chr17:41215898:G:T 2166_1719_573_S->R 243 chr17:41215899:C:T 2166_1718_573_S->N 243 chr17:41215900:T:G 2166_1717_573_S->R 243 chr17:41215900:T:A 2166_1717_573_S->C 243 chr17:41215905:A:G 2166_1712_571_V->A 243 chr17:41215920:G:T 2166_1697_566_A->E 243 chr17:41215920:G:A 2166_1697_566_A->V 243 chr17:41215921:C:G 2166_1696_566_A->P 243 chr17:41215926:C:T 2166_1691_564_G->E 243 chr17:41215926:C:G 2166_1691_564_G->A 243 chr17:41215935:T:G 2166_1682_561_Y->S 243 chr17:41215945:T:C 2166_1672_558_T->A 243 chr17:41215947:C:T 2166_1670_557_R->Q 243 chr17:41215947:C:A 2166_1670_557_R->L 243 chr17:41215948:G:A 2166_1669_557_R->W 243 chr17:41215953:C:T 2166_1664_555_C->Y 243 chr17:41215954:A:G 2166_1663_555_C->R 243 chr17:41215956:A:T 2166_1661_554_V->E 243 chr17:41215957:C:G 2166_1660_554_V->L 243 chr17:41215958:A:T 2166_1659_553_F->L 243 chr17:41215963:C:T 2166_1654_552_E->K 243 chr17:41215968:T:A 2166_1649_550_D->V 243 chr17:41219625:C:G 2166_1648_550_D->H 243 chr17:41219625:C:T 2166_1648_550_D->N 243 chr17:41219625:C:G 2166_1648_550_D->H 243 chr17:41219625:C:A 2166_1648_550_D->Y 243 chr17:41219627:G:C 2166_1646_549_T->R 243 chr17:41219627:G:T 2166_1646_549_T->K 243 chr17:41219627:G:A 2166_1646_549_T->I 243 chr17:41219628:T:C 2166_1645_549_T->A 243 chr17:41219631:T:G 2166_1642_548_K->Q 243 chr17:41219633:A:C 2166_1640_547_M->R 243 chr17:41219637:C:A 2166_1636_546_V->F 243 chr17:41219641:A:T 2166_1632_544_H->Q 243 chr17:41219642:T:C 2166_1631_544_H->R 243 chr17:41219645:G:A 2166_1628_543_T->I 243 chr17:41219646:T:C 2166_1627_543_T->A 243 chr17:41219694:C:A 2166_1579_527_A->S 243 chr17:41219702:T:C 2166_1571_524_Y->C 243 chr17:41219703:A:G 2166_1570_524_Y->H 243 chr17:41219711:A:T 2166_1562_521_M->K 243 chr17:41219712:T:A 2166_1561_521_M->L 243 chr17:41222967:G:A 2166_1538_513_S->F 243 chr17:41222975:C:T 2166_1530_510_M->I 243 chr17:41222976:A:G 2166_1529_510_M->T 243 chr17:41223021:G:A 2166_1484_495_P->L 243 chr17:41223048:A:G 2166_1457_486_M->T 243 chr17:41223049:T:C 2166_1456_486_M->V 243 chr17:41223063:G:C 2166_1442_481_A->G 243 chr17:41223063:G:C 2166_1442_481_A->G 243 chr17:41223084:G:A 2166_1421_474_A->V 243 chr17:41223094:T:A 2166_1411_471_S->C 243 chr17:41223094:T:C 2166_1411_471_S->G 243 chr17:41223115:T:C 2166_1390_464_K->E 243 chr17:41223154:T:A 2166_1351_451_I->L 243 chr17:41223188:T:G 2166_1317_439_E->D 243 chr17:41223202:A:G 2166_1303_435_S->P 243 chr17:41223240:A:G 2166_1265_422_L->P 243 chr17:41223249:G:A 2166_1256_419_T->I 243 chr17:41226348:C:T 2166_1249_417_E->K 243 chr17:41226348:C:T 2166_1249_417_E->K 243 chr17:41226348:C:G 2166_1249_417_E->Q 243 chr17:41226387:C:T 2166_1210_404_D->N 243 chr17:41226398:G:C 2166_1199_400_S->C 243 chr17:41226423:C:T 2166_1174_392_V->M 243 chr17:41226458:T:C 2166_1139_380_Y->C 243 chr17:41226488:C:A 2166_1109_370_S->I 243 chr17:41228505:C:T 2166_1058_353_R->K 243 chr17:41228505:C:A 2166_1058_353_R->M 243 chr17:41228505:C:G 2166_1058_353_R->T 243 chr17:41228505:C:A 2166_1058_353_R->M 243 chr17:41228518:G:C 2166_1045_349_P->A 243 chr17:41234451:G:C 2166_901_301_R->G 243 chr17:41234516:T:A 2166_836_279_H->L 243 chr17:41234517:G:A 2166_835_279_H->Y 243 chr17:41234558:A:G 2166_794_265_L->P 243 chr17:41234580:T:C 2166_772_258_M->V 243 chr17:41242974:A:G 2166_746_249_I->T 243 chr17:41242980:C:T 2166_740_247_S->N 243 chr17:41247865:T:C 2166_668_223_K->R 243 chr17:41249283:C:T 2166_571_191_V->I 243 chr17:41249297:G:A 2166_557_186_S->F 243 chr17:41249297:G:T 2166_557_186_S->Y 243 chr17:41249298:A:C 2166_556_186_S->A 243 chr17:41251803:T:C 2166_536_179_Y->C 243 chr17:41251836:T:G 2166_503_168_K->T 243 chr17:41251867:T:A 2166_472_158_N->Y 243 chr17:41256139:C:G 2166_441_147_L->F 243 chr17:41256155:G:T 2166_425_142_P->H 243 chr17:41256156:G:C 2166_424_142_P->A 243 chr17:41256184:G:T 2166_396_132_N->K 243 chr17:41256234:C:T 2166_346_116_E->K 243 chr17:41256240:A:G 2166_340_114_S->P 243 chr17:41256251:T:G 2166_329_110_K->T 243 chr17:41256266:T:C 2166_314_105_Y->C 243 chr17:41256894:C:G 2166_292_98_G->R 243 chr17:41256899:T:G 2166_287_96_D->A 243 chr17:41256900:C:T 2166_286_96_D->N 243 chr17:41256913:A:C 2166_273_91_C->W 243 chr17:41256941:A:G 2166_245_82_L->P 243 chr17:41256956:G:C 2166_230_77_T->R 243 chr17:41256970:G:T 2166_216_72_S->R 243 chr17:41258473:C:T 2166_212_71_R->K 243 chr17:41258474:T:C 2166_211_71_R->G 243 chr17:41258474:T:C 2166_211_71_R->G 243 chr17:41258482:A:T 2166_203_68_I->K 243 chr17:41258484:A:C 2166_201_67_D->E 243 chr17:41258486:C:A 2166_199_67_D->Y 243 chr17:41258494:C:T 2166_191_64_C->Y 243 chr17:41258495:A:C 2166_190_64_C->G 243 chr17:41258495:A:G 2166_190_64_C->R 243 chr17:41258497:A:G 2166_188_63_L->S 243 chr17:41258503:C:T 2166_182_61_C->Y 243 chr17:41258504:A:T 2166_181_61_C->S 243 chr17:41258504:A:G 2166_181_61_C->R 243 chr17:41258504:A:C 2166_181_61_C->G 243 chr17:41258513:G:C 2166_172_58_P->A 243 chr17:41258517:T:A 2166_168_56_K->N 243 chr17:41258518:T:C 2166_167_56_K->R 243 chr17:41258531:G:A 2166_154_52_L->F 243 chr17:41258545:C:T 2166_140_47_C->Y 243 chr17:41258545:C:A 2166_140_47_C->F 243 chr17:41258546:A:C 2166_139_47_C->G 243 chr17:41258550:T:A 2166_135_45_K->N 243 chr17:41267743:T:G 2166_134_45_K->T 243 chr17:41267746:C:A 2166_131_44_C->F 243 chr17:41267746:C:T 2166_131_44_C->Y 243 chr17:41267747:A:T 2166_130_44_C->S 243 chr17:41267747:A:C 2166_130_44_C->G 243 chr17:41267747:A:G 2166_130_44_C->R 243 chr17:41267755:T:C 2166_122_41_H->R 243 chr17:41267760:A:C 2166_117_39_C->W 243 chr17:41267761:C:T 2166_116_39_C->Y 243 chr17:41267762:A:T 2166_115_39_C->S 243 chr17:41267762:A:G 2166_115_39_C->R 243 chr17:41267762:A:C 2166_115_39_C->G 243 chr17:41267763:C:A 2166_114_38_K->N 243 chr17:41267767:G:T 2166_110_37_T->K 243 chr17:41267767:G:C 2166_110_37_T->R 243 chr17:41267770:G:T 2166_107_36_S->Y 243 chr17:41267794:A:G 2166_83_28_L->P 243 chr17:41276041:G:T 2166_73_25_P->T 243 chr17:41276043:C:T 2166_71_24_C->Y 243 chr17:41276044:A:G 2166_70_24_C->R 243 chr17:41276049:A:G 2166_65_22_L->S 243 chr17:41276053:T:C 2166_61_21_I->V 243 chr17:41276061:A:T 2166_53_18_M->K 243 chr17:41276061:A:G 2166_53_18_M->T 243 chr17:41276070:A:G 2166_44_15_I->T 243 chr17:41276082:A:G 2166_32_11_V->A 243 chr17:41276095:G:A 2166_19_7_R->C 243 chr17:41276111:C:A 2166_3_1_M->I 243 chr17:41276112:A:G 2166_2_1_M->T 243 chr17:41276112:A:C 2166_2_1_M->R 243 chr17:41276113:T:G 2166_1_1_M->L 243 chr17:41276113:T:C 2166_1_1_M->V 243 oneKG Variants: 243 chr17:41276080:G:A 2166_34_12_Q->* 0.000199681 243 chr17:41199716:A:T 2166_1985_662_V->D 0.000199681 243 chr17:41201142:C:T 2166_1976_659_G->D 0.000199681 243 chr17:41201196:A:G 2166_1922_641_M->T 0.000199681 243 chr17:41203101:G:C 2166_1885_629_P->A 0.000199681 243 chr17:41215385:T:C 2166_1732_578_T->A 0.000199681 243 chr17:41215915:C:T 2166_1702_568_G->R 0.000199681 243 chr17:41215926:C:G 2166_1691_564_G->A 0.000199681 243 chr17:41222975:C:T 2166_1530_510_M->I 0.0111821 243 chr17:41222988:T:C 2166_1517_506_K->R 0.000199681 243 chr17:41222997:C:G 2166_1508_503_R->T 0.000199681 243 chr17:41223048:A:G 2166_1457_486_M->T 0.00259585 243 chr17:41223091:G:A 2166_1414_472_P->S 0.000399361 243 chr17:41223094:T:C 2166_1411_471_S->G 0.355831 243 chr17:41223232:C:T 2166_1273_425_G->R 0.000199681 243 chr17:41223240:A:G 2166_1265_422_L->P 0.00119808 243 chr17:41223249:G:A 2166_1256_419_T->I 0.00159744 243 chr17:41223252:C:A 2166_1253_418_G->V 0.000199681 243 chr17:41226387:C:T 2166_1210_404_D->N 0.000199681 243 chr17:41226423:C:T 2166_1174_392_V->M 0.00159744 243 chr17:41226488:C:A 2166_1109_370_S->I 0.000599042 243 chr17:41228579:T:A 2166_984_328_E->D 0.000399361 243 chr17:41228587:T:C 2166_976_326_N->D 0.000199681 243 chr17:41234481:T:C 2166_871_291_I->V 0.000199681 243 chr17:41242980:C:T 2166_740_247_S->N 0.000399361 243 chr17:41243020:T:C 2166_700_234_T->A 0.000199681 243 chr17:41247907:G:A 2166_626_209_P->L 0.000199681 243 chr17:41249283:C:T 2166_571_191_V->I 0.00219649 243 chr17:41249297:G:T 2166_557_186_S->Y 0.00299521 243 chr17:41251803:T:C 2166_536_179_Y->C 0.000199681 243 chr17:41258486:C:A 2166_199_67_D->Y 0.000199681 243 chr17:41258509:G:A 2166_176_59_S->L 0.000199681 243 chr17:41267770:G:T 2166_107_36_S->Y 0.000199681 243 chr17:41276092:C:T 2166_22_8_V->I 0.000199681 243 na12878 Variants: 243 chr17:41223094:T:C 2166_1411_471_S->G 243 snyder Variants: 243 chr17:41223094:T:C 2166_1411_471_S->G 244 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000012048_ENST00000468300 gene_Name: BRCA1_HUMAN 244 list of pdbs: 244 3PXE pdb_description: 20-Apr-11 X-ray 2.850 Impact of brca1 brct domain missense substitutions on phosph recognition: e1836k 244 3PXD pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1835p 244 3PXC pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1699q 244 3PXB pdb_description: 20-Apr-11 X-ray 2.500 Impact of brca1 brct domain missense substitutions on phosph recognition: t1700a 244 3PXA pdb_description: 20-Apr-11 X-ray 2.550 Impact of brca1 brct domain missense substitutions on phosph recognition: g1656d 244 3K16 pdb_description: 02-Mar-10 X-ray 3.000 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with a free carboxy c-terminus 244 3K15 pdb_description: 02-Mar-10 X-ray 2.800 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with an amidated c-terminus 244 3K0K pdb_description: 02-Mar-10 X-ray 2.700 Crystal structure of brca1 brct in complex with a minimal re tetrapeptide with a free carboxy c-terminus. 244 3K0H pdb_description: 02-Mar-10 X-ray 2.700 The crystal structure of brca1 brct in complex with a minima recognition tetrapeptide with an amidated c-terminus 244 2ING pdb_description: 04-Sep-07 X-ray 3.600 X-ray structure of the brca1 brct mutant m1775k 244 1Y98 pdb_description: 30-Aug-05 X-ray 2.500 Structure of the brct repeats of brca1 bound to a ctip phosphopeptide. 244 1T2V pdb_description: 11-May-04 X-ray 3.300 Structural basis of phospho-peptide recognition by the brct brca1, structure with phosphopeptide 244 1T2U pdb_description: 11-May-04 X-ray 2.800 Structural basis of phosphopeptide recognition by the brct d brca1: structure of brca1 missense variant v1809f 244 1T29 pdb_description: 11-May-04 X-ray 2.300 Crystal structure of the brca1 brct repeats bound to a phosphorylated bach1 peptide 244 1T15 pdb_description: 11-May-04 X-ray 1.850 Crystal structure of the brca1 brct domains in complex with the phosphorylated interacting region from bach1 helicase 244 1OQA pdb_description: 15-Jun-04 NMR 15 Solution structure of the brct-c domain from human brca1 244 1N5O pdb_description: 25-Dec-02 X-ray 2.800 Structural consequences of a cancer-causing brca1-brct misse mutation 244 1JNX pdb_description: 21-Sep-01 X-ray 2.500 Crystal structure of the brct repeat region from the breast cancer associated protein, brca1 244 1JM7 pdb_description: 03-Oct-01 NMR 14 Solution structure of the brca1/bard1 ring-domain heterodimer 244 3COJ pdb_description: 27-May-08 X-ray 3.210 Crystal structure of the brct domains of human brca1 in comp phosphorylated peptide from human acetyl-coa carboxylase 1 244 Zimmer Variants: 244 chr17:41223094:T:C 2100_1525_509_S->G;HUB=PPI®GNEG=Yes;GENE=BRCA1;CANG=[DNA_repair][TF_regulating_known_cancer_gene 244 HGMD Variants: 244 chr17:41199716:A:T 2100_2025_675_C->* 244 chr17:41203105:A:T 2100_1995_665_Y->* 244 chr17:41203119:C:A 2100_1981_661_E->* 244 chr17:41209074:T:A 2100_1960_654_R->* 244 chr17:41209080:G:A 2100_1954_652_Q->* 244 chr17:41209086:C:A 2100_1948_650_E->* 244 chr17:41209095:G:A 2100_1939_647_R->* 244 chr17:41215364:T:A 2100_1867_623_K->* 244 chr17:41215370:C:A 2100_1861_621_E->* 244 chr17:41215382:G:A 2100_1849_617_Q->* 244 chr17:41215389:C:T 2100_1842_614_W->*,1 244 chr17:41215390:C:T 2100_1841_614_W->* 244 chr17:41215895:A:C 2100_1836_612_Y->* 244 chr17:41215907:C:T 2100_1824_608_W->* 244 chr17:41215915:C:A 2100_1816_606_G->* 244 chr17:41215934:A:C 2100_1797_599_Y->* 244 chr17:41215939:T:A 2100_1792_598_K->* 244 chr17:41215963:C:A 2100_1768_590_E->* 244 chr17:41219631:T:A 2100_1756_586_K->* 244 chr17:41219652:C:A 2100_1735_579_E->* 244 chr17:41219700:T:A 2100_1687_563_K->* 244 chr17:41219701:G:T 2100_1686_562_Y->* 244 chr17:41222950:C:A 2100_1669_557_E->* 244 chr17:41222989:T:A 2100_1630_544_K->* 244 chr17:41223001:C:A 2100_1618_540_E->* 244 chr17:41223028:C:A 2100_1591_531_E->* 244 chr17:41223121:G:A 2100_1498_500_Q->* 244 chr17:41223130:T:A 2100_1489_497_K->* 244 chr17:41223144:G:T 2100_1475_492_S->* 244 chr17:41223171:G:C 2100_1448_483_S->* 244 chr17:41223190:C:A 2100_1429_477_E->* 244 chr17:41223242:G:T 2100_1377_459_Y->* 244 chr17:41223242:G:C 2100_1377_459_Y->* 244 chr17:41223253:C:A 2100_1366_456_G->* 244 chr17:41226367:G:C 2100_1344_448_Y->* 244 chr17:41226402:C:A 2100_1309_437_E->* 244 chr17:41226411:G:A 2100_1300_434_Q->* 244 chr17:41226414:G:A 2100_1297_433_Q->* 244 chr17:41226420:C:A 2100_1291_431_E->* 244 chr17:41226450:G:A 2100_1261_421_Q->* 244 chr17:41226457:G:T 2100_1254_418_Y->* 244 chr17:41226471:G:A 2100_1240_414_Q->* 244 chr17:41226499:C:T 2100_1212_404_W->* 244 chr17:41226500:C:T 2100_1211_404_W->* 244 chr17:41226515:G:T 2100_1196_399_S->* 244 chr17:41226520:G:T 2100_1191_397_C->* 244 chr17:41226536:G:C 2100_1175_392_S->* 244 chr17:41228509:C:A 2100_1168_390_E->* 244 chr17:41228590:G:A 2100_1087_363_Q->* 244 chr17:41228600:G:T 2100_1077_359_Y->* 244 chr17:41228614:T:A 2100_1063_355_K->* 244 chr17:41228617:G:A 2100_1060_354_Q->* 244 chr17:41234439:G:A 2100_1030_344_Q->* 244 chr17:41234451:G:A 2100_1018_340_R->* 244 chr17:41234491:G:T 2100_978_326_Y->* 244 chr17:41234520:G:A 2100_949_317_Q->* 244 chr17:41234525:A:C 2100_944_315_L->* 244 chr17:41234535:C:A 2100_934_312_E->* 244 chr17:41234541:C:A 2100_928_310_E->* 244 chr17:41234550:C:A 2100_919_307_E->* 244 chr17:41234556:G:A 2100_913_305_Q->* 244 chr17:41234577:G:A 2100_892_298_Q->* 244 chr17:41234592:G:A 2100_877_293_Q->* 244 chr17:41242963:G:A 2100_874_292_Q->* 244 chr17:41242998:G:C 2100_839_280_S->* 244 chr17:41243029:C:A 2100_808_270_E->* 244 chr17:41243030:A:T 2100_807_269_C->* 244 chr17:41246765:A:C 2100_783_261_Y->* 244 chr17:41246785:C:A 2100_763_255_E->* 244 chr17:41246870:A:T 2100_678_226_C->* 244 chr17:41247917:G:A 2100_616_206_Q->* 244 chr17:41251819:G:A 2100_520_174_Q->* 244 chr17:41251825:G:A 2100_514_172_Q->* 244 chr17:41251834:G:A 2100_505_169_Q->* 244 chr17:41251876:G:A 2100_463_155_Q->* 244 chr17:41256153:C:A 2100_427_143_E->* 244 chr17:41256190:G:T 2100_390_130_Y->* 244 chr17:41256277:A:C 2100_303_101_Y->* 244 chr17:41256936:C:A 2100_250_84_E->* 244 chr17:41256945:G:A 2100_241_81_Q->* 244 chr17:41256966:G:A 2100_220_74_Q->* 244 chr17:41258497:A:T 2100_188_63_L->* 244 chr17:41258507:G:A 2100_178_60_Q->* 244 chr17:41267788:A:T 2100_89_30_L->* 244 chr17:41267792:C:A 2100_85_29_E->* 244 chr17:41276059:G:A 2100_55_19_Q->* 244 chr17:41276080:G:A 2100_34_12_Q->* 244 chr17:41276106:A:C 2100_8_3_L->* 244 chr17:41199660:C:T 2100_2081_694_C->Y 244 chr17:41199660:C:T 2100_2081_694_C->Y 244 chr17:41199678:C:A 2100_2063_688_R->I,1 244 chr17:41199682:C:T 2100_2059_687_D->N,1 244 chr17:41199693:G:C 2100_2048_683_A->G 244 chr17:41199696:G:A 2100_2045_682_A->V,1 244 chr17:41199698:A:C 2100_2043_681_C->W 244 chr17:41199702:C:A 2100_2039_680_G->V 244 chr17:41203080:C:G 2100_2020_674_G->R 244 chr17:41203080:C:A 2100_2020_674_G->W 244 chr17:41203080:C:T 2100_2020_674_G->R 244 chr17:41203080:C:A 2100_2020_674_G->W 244 chr17:41203088:A:T 2100_2012_671_M->K 244 chr17:41203088:A:C 2100_2012_671_M->R 244 chr17:41203095:T:A 2100_2005_669_T->S 244 chr17:41203103:C:A 2100_1997_666_G->V 244 chr17:41203115:A:C 2100_1985_662_I->S 244 chr17:41203121:A:G 2100_1979_660_L->P 244 chr17:41209088:C:T 2100_1946_649_R->K 244 chr17:41209088:C:G 2100_1946_649_R->T 244 chr17:41209092:C:G 2100_1942_648_A->P 244 chr17:41209094:C:T 2100_1940_647_R->Q 244 chr17:41209094:C:G 2100_1940_647_R->P 244 chr17:41209100:G:C 2100_1934_645_P->R 244 chr17:41209101:G:C 2100_1933_645_P->A 244 chr17:41209103:C:T 2100_1931_644_G->D 244 chr17:41209104:C:T 2100_1930_644_G->S 244 chr17:41209105:T:G 2100_1929_643_Q->H 244 chr17:41209109:T:G 2100_1925_642_H->P 244 chr17:41209110:G:T 2100_1924_642_H->N 244 chr17:41209124:A:C 2100_1910_637_V->G 244 chr17:41209129:A:C 2100_1905_635_D->E 244 chr17:41209130:T:C 2100_1904_635_D->G 244 chr17:41209130:T:A 2100_1904_635_D->V 244 chr17:41209131:C:A 2100_1903_635_D->Y 244 chr17:41209133:C:T 2100_1901_634_G->E 244 chr17:41209134:C:T 2100_1900_634_G->R 244 chr17:41209139:A:G 2100_1895_632_V->A 244 chr17:41209143:C:T 2100_1891_631_E->K 244 chr17:41209145:A:G 2100_1889_630_F->S 244 chr17:41215389:C:G 2100_1842_614_W->C,1 244 chr17:41215390:C:G 2100_1841_614_W->S 244 chr17:41215390:C:A 2100_1841_614_W->L 244 chr17:41215898:G:T 2100_1833_611_S->R 244 chr17:41215899:C:T 2100_1832_611_S->N 244 chr17:41215900:T:G 2100_1831_611_S->R 244 chr17:41215900:T:A 2100_1831_611_S->C 244 chr17:41215905:A:G 2100_1826_609_V->A 244 chr17:41215920:G:T 2100_1811_604_A->E 244 chr17:41215920:G:A 2100_1811_604_A->V 244 chr17:41215921:C:G 2100_1810_604_A->P 244 chr17:41215926:C:T 2100_1805_602_G->E 244 chr17:41215926:C:G 2100_1805_602_G->A 244 chr17:41215935:T:G 2100_1796_599_Y->S 244 chr17:41215945:T:C 2100_1786_596_T->A 244 chr17:41215947:C:T 2100_1784_595_R->Q 244 chr17:41215947:C:A 2100_1784_595_R->L 244 chr17:41215948:G:A 2100_1783_595_R->W 244 chr17:41215953:C:T 2100_1778_593_C->Y 244 chr17:41215954:A:G 2100_1777_593_C->R 244 chr17:41215956:A:T 2100_1775_592_V->E 244 chr17:41215957:C:G 2100_1774_592_V->L 244 chr17:41215958:A:T 2100_1773_591_F->L 244 chr17:41215963:C:T 2100_1768_590_E->K 244 chr17:41215968:T:A 2100_1763_588_D->V 244 chr17:41219625:C:G 2100_1762_588_D->H 244 chr17:41219625:C:T 2100_1762_588_D->N 244 chr17:41219625:C:G 2100_1762_588_D->H 244 chr17:41219625:C:A 2100_1762_588_D->Y 244 chr17:41219627:G:C 2100_1760_587_T->R 244 chr17:41219627:G:T 2100_1760_587_T->K 244 chr17:41219627:G:A 2100_1760_587_T->I 244 chr17:41219628:T:C 2100_1759_587_T->A 244 chr17:41219631:T:G 2100_1756_586_K->Q 244 chr17:41219633:A:C 2100_1754_585_M->R 244 chr17:41219637:C:A 2100_1750_584_V->F 244 chr17:41219641:A:T 2100_1746_582_H->Q 244 chr17:41219642:T:C 2100_1745_582_H->R 244 chr17:41219645:G:A 2100_1742_581_T->I 244 chr17:41219646:T:C 2100_1741_581_T->A 244 chr17:41219694:C:A 2100_1693_565_A->S 244 chr17:41219702:T:C 2100_1685_562_Y->C 244 chr17:41219703:A:G 2100_1684_562_Y->H 244 chr17:41219711:A:T 2100_1676_559_M->K 244 chr17:41219712:T:A 2100_1675_559_M->L 244 chr17:41222967:G:A 2100_1652_551_S->F 244 chr17:41222975:C:T 2100_1644_548_M->I 244 chr17:41222976:A:G 2100_1643_548_M->T 244 chr17:41223021:G:A 2100_1598_533_P->L 244 chr17:41223048:A:G 2100_1571_524_M->T 244 chr17:41223049:T:C 2100_1570_524_M->V 244 chr17:41223063:G:C 2100_1556_519_A->G 244 chr17:41223063:G:C 2100_1556_519_A->G 244 chr17:41223084:G:A 2100_1535_512_A->V 244 chr17:41223094:T:A 2100_1525_509_S->C 244 chr17:41223094:T:C 2100_1525_509_S->G 244 chr17:41223115:T:C 2100_1504_502_K->E 244 chr17:41223154:T:A 2100_1465_489_I->L 244 chr17:41223188:T:G 2100_1431_477_E->D 244 chr17:41223202:A:G 2100_1417_473_S->P 244 chr17:41223240:A:G 2100_1379_460_L->P 244 chr17:41223249:G:A 2100_1370_457_T->I 244 chr17:41226348:C:T 2100_1363_455_E->K 244 chr17:41226348:C:T 2100_1363_455_E->K 244 chr17:41226348:C:G 2100_1363_455_E->Q 244 chr17:41226387:C:T 2100_1324_442_D->N 244 chr17:41226398:G:C 2100_1313_438_S->C 244 chr17:41226423:C:T 2100_1288_430_V->M 244 chr17:41226458:T:C 2100_1253_418_Y->C 244 chr17:41226488:C:A 2100_1223_408_S->I 244 chr17:41228505:C:T 2100_1172_391_R->K 244 chr17:41228505:C:A 2100_1172_391_R->M 244 chr17:41228505:C:G 2100_1172_391_R->T 244 chr17:41228505:C:A 2100_1172_391_R->M 244 chr17:41228518:G:C 2100_1159_387_P->A 244 chr17:41234451:G:C 2100_1018_340_R->G 244 chr17:41234516:T:A 2100_953_318_H->L 244 chr17:41234517:G:A 2100_952_318_H->Y 244 chr17:41234558:A:G 2100_911_304_L->P 244 chr17:41234580:T:C 2100_889_297_M->V 244 chr17:41242974:A:G 2100_863_288_I->T 244 chr17:41242980:C:T 2100_857_286_S->N 244 chr17:41246761:C:A 2100_787_263_G->C 244 chr17:41246794:G:A 2100_754_252_R->C 244 chr17:41246812:A:C 2100_736_246_L->V 244 chr17:41246812:A:C 2100_736_246_L->V 244 chr17:41247865:T:C 2100_668_223_K->R 244 chr17:41249283:C:T 2100_571_191_V->I 244 chr17:41249297:G:A 2100_557_186_S->F 244 chr17:41249297:G:T 2100_557_186_S->Y 244 chr17:41249298:A:C 2100_556_186_S->A 244 chr17:41251803:T:C 2100_536_179_Y->C 244 chr17:41251836:T:G 2100_503_168_K->T 244 chr17:41251867:T:A 2100_472_158_N->Y 244 chr17:41256139:C:G 2100_441_147_L->F 244 chr17:41256155:G:T 2100_425_142_P->H 244 chr17:41256156:G:C 2100_424_142_P->A 244 chr17:41256184:G:T 2100_396_132_N->K 244 chr17:41256234:C:T 2100_346_116_E->K 244 chr17:41256240:A:G 2100_340_114_S->P 244 chr17:41256251:T:G 2100_329_110_K->T 244 chr17:41256266:T:C 2100_314_105_Y->C 244 chr17:41256894:C:G 2100_292_98_G->R 244 chr17:41256899:T:G 2100_287_96_D->A 244 chr17:41256900:C:T 2100_286_96_D->N 244 chr17:41256913:A:C 2100_273_91_C->W 244 chr17:41256941:A:G 2100_245_82_L->P 244 chr17:41256956:G:C 2100_230_77_T->R 244 chr17:41256970:G:T 2100_216_72_S->R 244 chr17:41258473:C:T 2100_212_71_R->K 244 chr17:41258474:T:C 2100_211_71_R->G 244 chr17:41258474:T:C 2100_211_71_R->G 244 chr17:41258482:A:T 2100_203_68_I->K 244 chr17:41258484:A:C 2100_201_67_D->E 244 chr17:41258486:C:A 2100_199_67_D->Y 244 chr17:41258494:C:T 2100_191_64_C->Y 244 chr17:41258495:A:C 2100_190_64_C->G 244 chr17:41258495:A:G 2100_190_64_C->R 244 chr17:41258497:A:G 2100_188_63_L->S 244 chr17:41258503:C:T 2100_182_61_C->Y 244 chr17:41258504:A:T 2100_181_61_C->S 244 chr17:41258504:A:G 2100_181_61_C->R 244 chr17:41258504:A:C 2100_181_61_C->G 244 chr17:41258513:G:C 2100_172_58_P->A 244 chr17:41258517:T:A 2100_168_56_K->N 244 chr17:41258518:T:C 2100_167_56_K->R 244 chr17:41258531:G:A 2100_154_52_L->F 244 chr17:41258545:C:T 2100_140_47_C->Y 244 chr17:41258545:C:A 2100_140_47_C->F 244 chr17:41258546:A:C 2100_139_47_C->G 244 chr17:41258550:T:A 2100_135_45_K->N 244 chr17:41267743:T:G 2100_134_45_K->T 244 chr17:41267746:C:A 2100_131_44_C->F 244 chr17:41267746:C:T 2100_131_44_C->Y 244 chr17:41267747:A:T 2100_130_44_C->S 244 chr17:41267747:A:C 2100_130_44_C->G 244 chr17:41267747:A:G 2100_130_44_C->R 244 chr17:41267755:T:C 2100_122_41_H->R 244 chr17:41267760:A:C 2100_117_39_C->W 244 chr17:41267761:C:T 2100_116_39_C->Y 244 chr17:41267762:A:T 2100_115_39_C->S 244 chr17:41267762:A:G 2100_115_39_C->R 244 chr17:41267762:A:C 2100_115_39_C->G 244 chr17:41267763:C:A 2100_114_38_K->N 244 chr17:41267767:G:T 2100_110_37_T->K 244 chr17:41267767:G:C 2100_110_37_T->R 244 chr17:41267770:G:T 2100_107_36_S->Y 244 chr17:41267794:A:G 2100_83_28_L->P 244 chr17:41276041:G:T 2100_73_25_P->T 244 chr17:41276043:C:T 2100_71_24_C->Y 244 chr17:41276044:A:G 2100_70_24_C->R 244 chr17:41276049:A:G 2100_65_22_L->S 244 chr17:41276053:T:C 2100_61_21_I->V 244 chr17:41276061:A:T 2100_53_18_M->K 244 chr17:41276061:A:G 2100_53_18_M->T 244 chr17:41276070:A:G 2100_44_15_I->T 244 chr17:41276082:A:G 2100_32_11_V->A 244 chr17:41276095:G:A 2100_19_7_R->C 244 chr17:41276111:C:A 2100_3_1_M->I 244 chr17:41276112:A:G 2100_2_1_M->T 244 chr17:41276112:A:C 2100_2_1_M->R 244 chr17:41276113:T:G 2100_1_1_M->L 244 chr17:41276113:T:C 2100_1_1_M->V 244 oneKG Variants: 244 chr17:41199716:A:T 2100_2025_675_C->* 0.000199681 244 chr17:41276080:G:A 2100_34_12_Q->* 0.000199681 244 chr17:41203101:G:C 2100_1999_667_P->A 0.000199681 244 chr17:41215385:T:C 2100_1846_616_T->A 0.000199681 244 chr17:41215915:C:T 2100_1816_606_G->R 0.000199681 244 chr17:41215926:C:G 2100_1805_602_G->A 0.000199681 244 chr17:41222975:C:T 2100_1644_548_M->I 0.0111821 244 chr17:41222988:T:C 2100_1631_544_K->R 0.000199681 244 chr17:41222997:C:G 2100_1622_541_R->T 0.000199681 244 chr17:41223048:A:G 2100_1571_524_M->T 0.00259585 244 chr17:41223091:G:A 2100_1528_510_P->S 0.000399361 244 chr17:41223094:T:C 2100_1525_509_S->G 0.355831 244 chr17:41223232:C:T 2100_1387_463_G->R 0.000199681 244 chr17:41223240:A:G 2100_1379_460_L->P 0.00119808 244 chr17:41223249:G:A 2100_1370_457_T->I 0.00159744 244 chr17:41223252:C:A 2100_1367_456_G->V 0.000199681 244 chr17:41226387:C:T 2100_1324_442_D->N 0.000199681 244 chr17:41226423:C:T 2100_1288_430_V->M 0.00159744 244 chr17:41226488:C:A 2100_1223_408_S->I 0.000599042 244 chr17:41228579:T:A 2100_1098_366_E->D 0.000399361 244 chr17:41228587:T:C 2100_1090_364_N->D 0.000199681 244 chr17:41234481:T:C 2100_988_330_I->V 0.000199681 244 chr17:41242980:C:T 2100_857_286_S->N 0.000399361 244 chr17:41243020:T:C 2100_817_273_T->A 0.000199681 244 chr17:41246812:A:C 2100_736_246_L->V 0.000199681 244 chr17:41246815:C:A 2100_733_245_D->Y 0.000199681 244 chr17:41246865:A:T 2100_683_228_F->Y 0.000199681 244 chr17:41247907:G:A 2100_626_209_P->L 0.000199681 244 chr17:41249283:C:T 2100_571_191_V->I 0.00219649 244 chr17:41249297:G:T 2100_557_186_S->Y 0.00299521 244 chr17:41251803:T:C 2100_536_179_Y->C 0.000199681 244 chr17:41258486:C:A 2100_199_67_D->Y 0.000199681 244 chr17:41258509:G:A 2100_176_59_S->L 0.000199681 244 chr17:41267770:G:T 2100_107_36_S->Y 0.000199681 244 chr17:41276092:C:T 2100_22_8_V->I 0.000199681 244 na12878 Variants: 244 chr17:41223094:T:C 2100_1525_509_S->G 244 snyder Variants: 244 chr17:41223094:T:C 2100_1525_509_S->G 245 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000012048_ENST00000491747 gene_Name: BRCA1_HUMAN 245 list of pdbs: 245 3PXE pdb_description: 20-Apr-11 X-ray 2.850 Impact of brca1 brct domain missense substitutions on phosph recognition: e1836k 245 3PXD pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1835p 245 3PXC pdb_description: 20-Apr-11 X-ray 2.800 Impact of brca1 brct domain missense substitutions on phosph recognition: r1699q 245 3PXB pdb_description: 20-Apr-11 X-ray 2.500 Impact of brca1 brct domain missense substitutions on phosph recognition: t1700a 245 3PXA pdb_description: 20-Apr-11 X-ray 2.550 Impact of brca1 brct domain missense substitutions on phosph recognition: g1656d 245 3K16 pdb_description: 02-Mar-10 X-ray 3.000 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with a free carboxy c-terminus 245 3K15 pdb_description: 02-Mar-10 X-ray 2.800 Crystal structure of brca1 brct d1840t in complex with a min recognition tetrapeptide with an amidated c-terminus 245 3K0K pdb_description: 02-Mar-10 X-ray 2.700 Crystal structure of brca1 brct in complex with a minimal re tetrapeptide with a free carboxy c-terminus. 245 3K0H pdb_description: 02-Mar-10 X-ray 2.700 The crystal structure of brca1 brct in complex with a minima recognition tetrapeptide with an amidated c-terminus 245 2ING pdb_description: 04-Sep-07 X-ray 3.600 X-ray structure of the brca1 brct mutant m1775k 245 1Y98 pdb_description: 30-Aug-05 X-ray 2.500 Structure of the brct repeats of brca1 bound to a ctip phosphopeptide. 245 1T2V pdb_description: 11-May-04 X-ray 3.300 Structural basis of phospho-peptide recognition by the brct brca1, structure with phosphopeptide 245 1T2U pdb_description: 11-May-04 X-ray 2.800 Structural basis of phosphopeptide recognition by the brct d brca1: structure of brca1 missense variant v1809f 245 1T29 pdb_description: 11-May-04 X-ray 2.300 Crystal structure of the brca1 brct repeats bound to a phosphorylated bach1 peptide 245 1T15 pdb_description: 11-May-04 X-ray 1.850 Crystal structure of the brca1 brct domains in complex with the phosphorylated interacting region from bach1 helicase 245 1OQA pdb_description: 15-Jun-04 NMR 15 Solution structure of the brct-c domain from human brca1 245 1N5O pdb_description: 25-Dec-02 X-ray 2.800 Structural consequences of a cancer-causing brca1-brct misse mutation 245 1JNX pdb_description: 21-Sep-01 X-ray 2.500 Crystal structure of the brct repeat region from the breast cancer associated protein, brca1 245 1JM7 pdb_description: 03-Oct-01 NMR 14 Solution structure of the brca1/bard1 ring-domain heterodimer 245 3COJ pdb_description: 27-May-08 X-ray 3.210 Crystal structure of the brct domains of human brca1 in comp phosphorylated peptide from human acetyl-coa carboxylase 1 245 Zimmer Variants: 245 chr17:41223094:T:C 2280_1525_509_S->G 245 HGMD Variants: 245 chr17:41197728:G:C 2280_2247_749_Y->* 245 chr17:41197746:G:T 2280_2229_743_C->* 245 chr17:41197751:G:A 2280_2224_742_Q->* 245 chr17:41197776:C:T 2280_2199_733_W->* 245 chr17:41197777:C:T 2280_2198_733_W->* 245 chr17:41197781:C:A 2280_2194_732_E->* 245 chr17:41197784:G:A 2280_2191_731_R->* 245 chr17:41199678:C:A 2280_2137_713_E->* 245 chr17:41199682:C:T 2280_2133_711_W->* 245 chr17:41199683:C:T 2280_2132_711_W->* 245 chr17:41199696:G:A 2280_2119_707_Q->* 245 chr17:41201157:G:T 2280_2075_692_S->* 245 chr17:41201167:T:A 2280_2065_689_K->* 245 chr17:41201191:G:A 2280_2041_681_Q->* 245 chr17:41201198:C:T 2280_2034_678_W->* 245 chr17:41201199:C:T 2280_2033_678_W->* 245 chr17:41201203:C:A 2280_2029_677_E->* 245 chr17:41201209:G:A 2280_2023_675_Q->* 245 chr17:41203105:A:T 2280_1995_665_Y->* 245 chr17:41203119:C:A 2280_1981_661_E->* 245 chr17:41209074:T:A 2280_1960_654_R->* 245 chr17:41209080:G:A 2280_1954_652_Q->* 245 chr17:41209086:C:A 2280_1948_650_E->* 245 chr17:41209095:G:A 2280_1939_647_R->* 245 chr17:41215364:T:A 2280_1867_623_K->* 245 chr17:41215370:C:A 2280_1861_621_E->* 245 chr17:41215382:G:A 2280_1849_617_Q->* 245 chr17:41215389:C:T 2280_1842_614_W->* 245 chr17:41215390:C:T 2280_1841_614_W->* 245 chr17:41215895:A:C 2280_1836_612_Y->* 245 chr17:41215907:C:T 2280_1824_608_W->* 245 chr17:41215915:C:A 2280_1816_606_G->* 245 chr17:41215934:A:C 2280_1797_599_Y->* 245 chr17:41215939:T:A 2280_1792_598_K->* 245 chr17:41215963:C:A 2280_1768_590_E->* 245 chr17:41219631:T:A 2280_1756_586_K->* 245 chr17:41219652:C:A 2280_1735_579_E->* 245 chr17:41219700:T:A 2280_1687_563_K->* 245 chr17:41219701:G:T 2280_1686_562_Y->* 245 chr17:41222950:C:A 2280_1669_557_E->* 245 chr17:41222989:T:A 2280_1630_544_K->* 245 chr17:41223001:C:A 2280_1618_540_E->* 245 chr17:41223028:C:A 2280_1591_531_E->* 245 chr17:41223121:G:A 2280_1498_500_Q->* 245 chr17:41223130:T:A 2280_1489_497_K->* 245 chr17:41223144:G:T 2280_1475_492_S->* 245 chr17:41223171:G:C 2280_1448_483_S->* 245 chr17:41223190:C:A 2280_1429_477_E->* 245 chr17:41223242:G:T 2280_1377_459_Y->* 245 chr17:41223242:G:C 2280_1377_459_Y->* 245 chr17:41223253:C:A 2280_1366_456_G->* 245 chr17:41226367:G:C 2280_1344_448_Y->* 245 chr17:41226402:C:A 2280_1309_437_E->* 245 chr17:41226411:G:A 2280_1300_434_Q->* 245 chr17:41226414:G:A 2280_1297_433_Q->* 245 chr17:41226420:C:A 2280_1291_431_E->* 245 chr17:41226450:G:A 2280_1261_421_Q->* 245 chr17:41226457:G:T 2280_1254_418_Y->* 245 chr17:41226471:G:A 2280_1240_414_Q->* 245 chr17:41226499:C:T 2280_1212_404_W->* 245 chr17:41226500:C:T 2280_1211_404_W->* 245 chr17:41226515:G:T 2280_1196_399_S->* 245 chr17:41226520:G:T 2280_1191_397_C->* 245 chr17:41226536:G:C 2280_1175_392_S->* 245 chr17:41228509:C:A 2280_1168_390_E->* 245 chr17:41228590:G:A 2280_1087_363_Q->* 245 chr17:41228600:G:T 2280_1077_359_Y->* 245 chr17:41228614:T:A 2280_1063_355_K->* 245 chr17:41228617:G:A 2280_1060_354_Q->* 245 chr17:41234439:G:A 2280_1030_344_Q->* 245 chr17:41234451:G:A 2280_1018_340_R->* 245 chr17:41234491:G:T 2280_978_326_Y->* 245 chr17:41234520:G:A 2280_949_317_Q->* 245 chr17:41234525:A:C 2280_944_315_L->* 245 chr17:41234535:C:A 2280_934_312_E->* 245 chr17:41234541:C:A 2280_928_310_E->* 245 chr17:41234550:C:A 2280_919_307_E->* 245 chr17:41234556:G:A 2280_913_305_Q->* 245 chr17:41234577:G:A 2280_892_298_Q->* 245 chr17:41234592:G:A 2280_877_293_Q->* 245 chr17:41242963:G:A 2280_874_292_Q->* 245 chr17:41242998:G:C 2280_839_280_S->* 245 chr17:41243029:C:A 2280_808_270_E->* 245 chr17:41243030:A:T 2280_807_269_C->* 245 chr17:41246765:A:C 2280_783_261_Y->* 245 chr17:41246785:C:A 2280_763_255_E->* 245 chr17:41246870:A:T 2280_678_226_C->* 245 chr17:41247917:G:A 2280_616_206_Q->* 245 chr17:41251819:G:A 2280_520_174_Q->* 245 chr17:41251825:G:A 2280_514_172_Q->* 245 chr17:41251834:G:A 2280_505_169_Q->* 245 chr17:41251876:G:A 2280_463_155_Q->* 245 chr17:41256153:C:A 2280_427_143_E->* 245 chr17:41256190:G:T 2280_390_130_Y->* 245 chr17:41256277:A:C 2280_303_101_Y->* 245 chr17:41256936:C:A 2280_250_84_E->* 245 chr17:41256945:G:A 2280_241_81_Q->* 245 chr17:41256966:G:A 2280_220_74_Q->* 245 chr17:41258497:A:T 2280_188_63_L->* 245 chr17:41258507:G:A 2280_178_60_Q->* 245 chr17:41267788:A:T 2280_89_30_L->* 245 chr17:41267792:C:A 2280_85_29_E->* 245 chr17:41276059:G:A 2280_55_19_Q->* 245 chr17:41276080:G:A 2280_34_12_Q->* 245 chr17:41276106:A:C 2280_8_3_L->* 245 chr17:41197714:A:G 2280_2261_754_I->T 245 chr17:41197729:T:C 2280_2246_749_Y->C 245 chr17:41197765:C:T 2280_2210_737_S->N 245 chr17:41197766:T:G 2280_2209_737_S->R 245 chr17:41197774:A:T 2280_2201_734_V->E 245 chr17:41197778:A:G 2280_2197_733_W->R 245 chr17:41197778:A:C 2280_2197_733_W->G 245 chr17:41197790:C:T 2280_2185_729_V->M 245 chr17:41199660:C:T 2280_2155_719_A->T 245 chr17:41199660:C:T 2280_2155_719_A->T 245 chr17:41199674:T:C 2280_2141_714_D->G 245 chr17:41199693:G:C 2280_2122_708_P->A 245 chr17:41199695:T:C 2280_2120_707_Q->R 245 chr17:41199698:A:C 2280_2117_706_V->G 245 chr17:41199701:A:G 2280_2114_705_V->A 245 chr17:41199702:C:A 2280_2113_705_V->F 245 chr17:41199713:T:G 2280_2102_701_H->P 245 chr17:41199716:A:T 2280_2099_700_V->D 245 chr17:41199719:C:G 2280_2096_699_G->A 245 chr17:41201162:C:A 2280_2070_690_E->D 245 chr17:41201179:C:T 2280_2053_685_A->T 245 chr17:41201179:C:A 2280_2053_685_A->S 245 chr17:41201181:C:A 2280_2051_684_G->V 245 chr17:41201181:C:T 2280_2051_684_G->D 245 chr17:41201182:C:A 2280_2050_684_G->C 245 chr17:41201185:A:T 2280_2047_683_C->S 245 chr17:41201189:C:A 2280_2043_681_Q->H 245 chr17:41201196:A:G 2280_2036_679_M->T 245 chr17:41201205:A:G 2280_2027_676_L->P 245 chr17:41203080:C:G 2280_2020_674_D->H 245 chr17:41203080:C:A 2280_2020_674_D->Y 245 chr17:41203080:C:T 2280_2020_674_D->N 245 chr17:41203080:C:A 2280_2020_674_D->Y 245 chr17:41203088:A:T 2280_2012_671_M->K 245 chr17:41203088:A:C 2280_2012_671_M->R 245 chr17:41203095:T:A 2280_2005_669_T->S 245 chr17:41203103:C:A 2280_1997_666_G->V 245 chr17:41203115:A:C 2280_1985_662_I->S 245 chr17:41203121:A:G 2280_1979_660_L->P 245 chr17:41209088:C:T 2280_1946_649_R->K 245 chr17:41209088:C:G 2280_1946_649_R->T 245 chr17:41209092:C:G 2280_1942_648_A->P 245 chr17:41209094:C:T 2280_1940_647_R->Q 245 chr17:41209094:C:G 2280_1940_647_R->P 245 chr17:41209100:G:C 2280_1934_645_P->R 245 chr17:41209101:G:C 2280_1933_645_P->A 245 chr17:41209103:C:T 2280_1931_644_G->D 245 chr17:41209104:C:T 2280_1930_644_G->S 245 chr17:41209105:T:G 2280_1929_643_Q->H 245 chr17:41209109:T:G 2280_1925_642_H->P 245 chr17:41209110:G:T 2280_1924_642_H->N 245 chr17:41209124:A:C 2280_1910_637_V->G 245 chr17:41209129:A:C 2280_1905_635_D->E 245 chr17:41209130:T:C 2280_1904_635_D->G 245 chr17:41209130:T:A 2280_1904_635_D->V 245 chr17:41209131:C:A 2280_1903_635_D->Y 245 chr17:41209133:C:T 2280_1901_634_G->E 245 chr17:41209134:C:T 2280_1900_634_G->R 245 chr17:41209139:A:G 2280_1895_632_V->A 245 chr17:41209143:C:T 2280_1891_631_E->K 245 chr17:41209145:A:G 2280_1889_630_F->S 245 chr17:41215389:C:G 2280_1842_614_W->C 245 chr17:41215390:C:G 2280_1841_614_W->S 245 chr17:41215390:C:A 2280_1841_614_W->L 245 chr17:41215898:G:T 2280_1833_611_S->R 245 chr17:41215899:C:T 2280_1832_611_S->N 245 chr17:41215900:T:G 2280_1831_611_S->R 245 chr17:41215900:T:A 2280_1831_611_S->C 245 chr17:41215905:A:G 2280_1826_609_V->A 245 chr17:41215920:G:T 2280_1811_604_A->E 245 chr17:41215920:G:A 2280_1811_604_A->V 245 chr17:41215921:C:G 2280_1810_604_A->P 245 chr17:41215926:C:T 2280_1805_602_G->E 245 chr17:41215926:C:G 2280_1805_602_G->A 245 chr17:41215935:T:G 2280_1796_599_Y->S 245 chr17:41215945:T:C 2280_1786_596_T->A 245 chr17:41215947:C:T 2280_1784_595_R->Q 245 chr17:41215947:C:A 2280_1784_595_R->L 245 chr17:41215948:G:A 2280_1783_595_R->W 245 chr17:41215953:C:T 2280_1778_593_C->Y 245 chr17:41215954:A:G 2280_1777_593_C->R 245 chr17:41215956:A:T 2280_1775_592_V->E 245 chr17:41215957:C:G 2280_1774_592_V->L 245 chr17:41215958:A:T 2280_1773_591_F->L 245 chr17:41215963:C:T 2280_1768_590_E->K 245 chr17:41215968:T:A 2280_1763_588_D->V 245 chr17:41219625:C:G 2280_1762_588_D->H 245 chr17:41219625:C:T 2280_1762_588_D->N 245 chr17:41219625:C:G 2280_1762_588_D->H 245 chr17:41219625:C:A 2280_1762_588_D->Y 245 chr17:41219627:G:C 2280_1760_587_T->R 245 chr17:41219627:G:T 2280_1760_587_T->K 245 chr17:41219627:G:A 2280_1760_587_T->I 245 chr17:41219628:T:C 2280_1759_587_T->A 245 chr17:41219631:T:G 2280_1756_586_K->Q 245 chr17:41219633:A:C 2280_1754_585_M->R 245 chr17:41219637:C:A 2280_1750_584_V->F 245 chr17:41219641:A:T 2280_1746_582_H->Q 245 chr17:41219642:T:C 2280_1745_582_H->R 245 chr17:41219645:G:A 2280_1742_581_T->I 245 chr17:41219646:T:C 2280_1741_581_T->A 245 chr17:41219694:C:A 2280_1693_565_A->S 245 chr17:41219702:T:C 2280_1685_562_Y->C 245 chr17:41219703:A:G 2280_1684_562_Y->H 245 chr17:41219711:A:T 2280_1676_559_M->K 245 chr17:41219712:T:A 2280_1675_559_M->L 245 chr17:41222967:G:A 2280_1652_551_S->F 245 chr17:41222975:C:T 2280_1644_548_M->I 245 chr17:41222976:A:G 2280_1643_548_M->T 245 chr17:41223021:G:A 2280_1598_533_P->L 245 chr17:41223048:A:G 2280_1571_524_M->T 245 chr17:41223049:T:C 2280_1570_524_M->V 245 chr17:41223063:G:C 2280_1556_519_A->G 245 chr17:41223063:G:C 2280_1556_519_A->G 245 chr17:41223084:G:A 2280_1535_512_A->V 245 chr17:41223094:T:A 2280_1525_509_S->C 245 chr17:41223094:T:C 2280_1525_509_S->G 245 chr17:41223115:T:C 2280_1504_502_K->E 245 chr17:41223154:T:A 2280_1465_489_I->L 245 chr17:41223188:T:G 2280_1431_477_E->D 245 chr17:41223202:A:G 2280_1417_473_S->P 245 chr17:41223240:A:G 2280_1379_460_L->P 245 chr17:41223249:G:A 2280_1370_457_T->I 245 chr17:41226348:C:T 2280_1363_455_E->K 245 chr17:41226348:C:T 2280_1363_455_E->K 245 chr17:41226348:C:G 2280_1363_455_E->Q 245 chr17:41226387:C:T 2280_1324_442_D->N 245 chr17:41226398:G:C 2280_1313_438_S->C 245 chr17:41226423:C:T 2280_1288_430_V->M 245 chr17:41226458:T:C 2280_1253_418_Y->C 245 chr17:41226488:C:A 2280_1223_408_S->I 245 chr17:41228505:C:T 2280_1172_391_R->K 245 chr17:41228505:C:A 2280_1172_391_R->M 245 chr17:41228505:C:G 2280_1172_391_R->T 245 chr17:41228505:C:A 2280_1172_391_R->M 245 chr17:41228518:G:C 2280_1159_387_P->A 245 chr17:41234451:G:C 2280_1018_340_R->G 245 chr17:41234516:T:A 2280_953_318_H->L 245 chr17:41234517:G:A 2280_952_318_H->Y 245 chr17:41234558:A:G 2280_911_304_L->P 245 chr17:41234580:T:C 2280_889_297_M->V 245 chr17:41242974:A:G 2280_863_288_I->T 245 chr17:41242980:C:T 2280_857_286_S->N 245 chr17:41246761:C:A 2280_787_263_G->C 245 chr17:41246794:G:A 2280_754_252_R->C 245 chr17:41246812:A:C 2280_736_246_L->V 245 chr17:41246812:A:C 2280_736_246_L->V 245 chr17:41247865:T:C 2280_668_223_K->R 245 chr17:41249283:C:T 2280_571_191_V->I 245 chr17:41249297:G:A 2280_557_186_S->F 245 chr17:41249297:G:T 2280_557_186_S->Y 245 chr17:41249298:A:C 2280_556_186_S->A 245 chr17:41251803:T:C 2280_536_179_Y->C 245 chr17:41251836:T:G 2280_503_168_K->T 245 chr17:41251867:T:A 2280_472_158_N->Y 245 chr17:41256139:C:G 2280_441_147_L->F 245 chr17:41256155:G:T 2280_425_142_P->H 245 chr17:41256156:G:C 2280_424_142_P->A 245 chr17:41256184:G:T 2280_396_132_N->K 245 chr17:41256234:C:T 2280_346_116_E->K 245 chr17:41256240:A:G 2280_340_114_S->P 245 chr17:41256251:T:G 2280_329_110_K->T 245 chr17:41256266:T:C 2280_314_105_Y->C 245 chr17:41256894:C:G 2280_292_98_G->R 245 chr17:41256899:T:G 2280_287_96_D->A 245 chr17:41256900:C:T 2280_286_96_D->N 245 chr17:41256913:A:C 2280_273_91_C->W 245 chr17:41256941:A:G 2280_245_82_L->P 245 chr17:41256956:G:C 2280_230_77_T->R 245 chr17:41256970:G:T 2280_216_72_S->R 245 chr17:41258473:C:T 2280_212_71_R->K 245 chr17:41258474:T:C 2280_211_71_R->G 245 chr17:41258474:T:C 2280_211_71_R->G 245 chr17:41258482:A:T 2280_203_68_I->K 245 chr17:41258484:A:C 2280_201_67_D->E 245 chr17:41258486:C:A 2280_199_67_D->Y 245 chr17:41258494:C:T 2280_191_64_C->Y 245 chr17:41258495:A:C 2280_190_64_C->G 245 chr17:41258495:A:G 2280_190_64_C->R 245 chr17:41258497:A:G 2280_188_63_L->S 245 chr17:41258503:C:T 2280_182_61_C->Y 245 chr17:41258504:A:T 2280_181_61_C->S 245 chr17:41258504:A:G 2280_181_61_C->R 245 chr17:41258504:A:C 2280_181_61_C->G 245 chr17:41258513:G:C 2280_172_58_P->A 245 chr17:41258517:T:A 2280_168_56_K->N 245 chr17:41258518:T:C 2280_167_56_K->R 245 chr17:41258531:G:A 2280_154_52_L->F 245 chr17:41258545:C:T 2280_140_47_C->Y 245 chr17:41258545:C:A 2280_140_47_C->F 245 chr17:41258546:A:C 2280_139_47_C->G 245 chr17:41258550:T:A 2280_135_45_K->N 245 chr17:41267743:T:G 2280_134_45_K->T 245 chr17:41267746:C:A 2280_131_44_C->F 245 chr17:41267746:C:T 2280_131_44_C->Y 245 chr17:41267747:A:T 2280_130_44_C->S 245 chr17:41267747:A:C 2280_130_44_C->G 245 chr17:41267747:A:G 2280_130_44_C->R 245 chr17:41267755:T:C 2280_122_41_H->R 245 chr17:41267760:A:C 2280_117_39_C->W 245 chr17:41267761:C:T 2280_116_39_C->Y 245 chr17:41267762:A:T 2280_115_39_C->S 245 chr17:41267762:A:G 2280_115_39_C->R 245 chr17:41267762:A:C 2280_115_39_C->G 245 chr17:41267763:C:A 2280_114_38_K->N 245 chr17:41267767:G:T 2280_110_37_T->K 245 chr17:41267767:G:C 2280_110_37_T->R 245 chr17:41267770:G:T 2280_107_36_S->Y 245 chr17:41267794:A:G 2280_83_28_L->P 245 chr17:41276041:G:T 2280_73_25_P->T 245 chr17:41276043:C:T 2280_71_24_C->Y 245 chr17:41276044:A:G 2280_70_24_C->R 245 chr17:41276049:A:G 2280_65_22_L->S 245 chr17:41276053:T:C 2280_61_21_I->V 245 chr17:41276061:A:T 2280_53_18_M->K 245 chr17:41276061:A:G 2280_53_18_M->T 245 chr17:41276070:A:G 2280_44_15_I->T 245 chr17:41276082:A:G 2280_32_11_V->A 245 chr17:41276095:G:A 2280_19_7_R->C 245 chr17:41276111:C:A 2280_3_1_M->I 245 chr17:41276112:A:G 2280_2_1_M->T 245 chr17:41276112:A:C 2280_2_1_M->R 245 chr17:41276113:T:G 2280_1_1_M->L 245 chr17:41276113:T:C 2280_1_1_M->V 245 oneKG Variants: 245 chr17:41276080:G:A 2280_34_12_Q->* 0.000199681 245 chr17:41199716:A:T 2280_2099_700_V->D 0.000199681 245 chr17:41201142:C:T 2280_2090_697_G->D 0.000199681 245 chr17:41201196:A:G 2280_2036_679_M->T 0.000199681 245 chr17:41203101:G:C 2280_1999_667_P->A 0.000199681 245 chr17:41215385:T:C 2280_1846_616_T->A 0.000199681 245 chr17:41215915:C:T 2280_1816_606_G->R 0.000199681 245 chr17:41215926:C:G 2280_1805_602_G->A 0.000199681 245 chr17:41222975:C:T 2280_1644_548_M->I 0.0111821 245 chr17:41222988:T:C 2280_1631_544_K->R 0.000199681 245 chr17:41222997:C:G 2280_1622_541_R->T 0.000199681 245 chr17:41223048:A:G 2280_1571_524_M->T 0.00259585 245 chr17:41223091:G:A 2280_1528_510_P->S 0.000399361 245 chr17:41223094:T:C 2280_1525_509_S->G 0.355831 245 chr17:41223232:C:T 2280_1387_463_G->R 0.000199681 245 chr17:41223240:A:G 2280_1379_460_L->P 0.00119808 245 chr17:41223249:G:A 2280_1370_457_T->I 0.00159744 245 chr17:41223252:C:A 2280_1367_456_G->V 0.000199681 245 chr17:41226387:C:T 2280_1324_442_D->N 0.000199681 245 chr17:41226423:C:T 2280_1288_430_V->M 0.00159744 245 chr17:41226488:C:A 2280_1223_408_S->I 0.000599042 245 chr17:41228579:T:A 2280_1098_366_E->D 0.000399361 245 chr17:41228587:T:C 2280_1090_364_N->D 0.000199681 245 chr17:41234481:T:C 2280_988_330_I->V 0.000199681 245 chr17:41242980:C:T 2280_857_286_S->N 0.000399361 245 chr17:41243020:T:C 2280_817_273_T->A 0.000199681 245 chr17:41246812:A:C 2280_736_246_L->V 0.000199681 245 chr17:41246815:C:A 2280_733_245_D->Y 0.000199681 245 chr17:41246865:A:T 2280_683_228_F->Y 0.000199681 245 chr17:41247907:G:A 2280_626_209_P->L 0.000199681 245 chr17:41249283:C:T 2280_571_191_V->I 0.00219649 245 chr17:41249297:G:T 2280_557_186_S->Y 0.00299521 245 chr17:41251803:T:C 2280_536_179_Y->C 0.000199681 245 chr17:41258486:C:A 2280_199_67_D->Y 0.000199681 245 chr17:41258509:G:A 2280_176_59_S->L 0.000199681 245 chr17:41267770:G:T 2280_107_36_S->Y 0.000199681 245 chr17:41276092:C:T 2280_22_8_V->I 0.000199681 245 na12878 Variants: 245 chr17:41223094:T:C 2280_1525_509_S->G 245 snyder Variants: 245 chr17:41223094:T:C 2280_1525_509_S->G 246 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131096_ENST00000360085 gene_Name: PYY_HUMAN 246 list of pdbs: 246 2L60 pdb_description: 05-Oct-11 NMR 20 A novel design concept: new y-receptor agonists with increas membrane recruitment, y2 affinity and selectivity 246 2DF0 pdb_description: 18-Jul-06 NMR 20 Solution structure of human pyy3-36 246 2DEZ pdb_description: 18-Jul-06 NMR 20 Structure of human pyy 246 Zimmer Variants: 246 chr17:42030743:G:C 294_109_37_R->G 246 chr17:42030531:G:C 294_215_72_T->R 246 HGMD Variants: 246 chr17:42030531:G:C 294_215_72_T->R 246 chr17:42030667:T:G 294_185_62_Q->P 246 oneKG Variants: 246 chr17:42030328:C:T 294_290_97_W->* 0.000199681 246 chr17:42030335:C:T 294_283_95_D->N 0.000199681 246 chr17:42030528:A:G 294_218_73_L->P 0.0313498 246 chr17:42030531:G:C 294_215_72_T->R 0.45627 246 chr17:42030727:G:C 294_125_42_P->R 0.000399361 246 chr17:42030743:G:C 294_109_37_R->G 0.0 246 na12878 Variants: 246 chr17:42030743:G:C 294_109_37_R->G 246 chr17:42030531:G:C 294_215_72_T->R 246 snyder Variants: 246 chr17:42030743:G:C 294_109_37_R->G 246 chr17:42030531:G:C 294_215_72_T->R 247 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131096_ENST00000592796 gene_Name: PYY_HUMAN 247 list of pdbs: 247 2L60 pdb_description: 05-Oct-11 NMR 20 A novel design concept: new y-receptor agonists with increas membrane recruitment, y2 affinity and selectivity 247 2DF0 pdb_description: 18-Jul-06 NMR 20 Solution structure of human pyy3-36 247 2DEZ pdb_description: 18-Jul-06 NMR 20 Structure of human pyy 247 Zimmer Variants: 247 chr17:42030743:G:C 273_109_37_R->G;GNEG=Yes;GENE=PYY;CDSS=3 247 chr17:42030531:G:C 273_215_72_T->R;GNEG=Yes;GENE=PYY;CDSS=2 247 HGMD Variants: 247 chr17:42030531:G:C 273_215_72_T->R 247 chr17:42030667:T:G 273_185_62_Q->P 247 oneKG Variants: 247 chr17:42030528:A:G 273_218_73_L->P 0.0313498 247 chr17:42030531:G:C 273_215_72_T->R 0.45627 247 chr17:42030727:G:C 273_125_42_P->R 0.000399361 247 chr17:42030743:G:C 273_109_37_R->G 0.0 247 na12878 Variants: 247 chr17:42030743:G:C 273_109_37_R->G 247 chr17:42030531:G:C 273_215_72_T->R 247 snyder Variants: 247 chr17:42030743:G:C 273_109_37_R->G 247 chr17:42030531:G:C 273_215_72_T->R 248 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000407977 gene_Name: RNF43_HUMAN 248 list of pdbs: 248 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 248 Zimmer Variants: 248 chr17:56438301:G:A 2352_692_231_P->L 248 chr17:56448297:C:T 2352_350_117_R->H 248 chr17:56492800:T:C 2352_139_47_I->V 248 HGMD Variants: 248 chr17:56440943:G:A 2352_394_132_R->* 248 chr17:56448310:G:A 2352_337_113_R->* 248 oneKG Variants: 248 chr17:56434876:C:G 2352_2261_754_G->A 0.00938498 248 chr17:56435047:T:C 2352_2090_697_H->R 0.000199681 248 chr17:56435080:G:C 2352_2057_686_P->R 0.0782748 248 chr17:56435083:G:T 2352_2054_685_T->N 0.000199681 248 chr17:56435134:C:T 2352_2003_668_R->Q 0.000199681 248 chr17:56435167:C:G 2352_1970_657_R->P 0.0061901 248 chr17:56435197:A:G 2352_1940_647_L->P 0.000199681 248 chr17:56435252:C:T 2352_1885_629_A->T 0.000798722 248 chr17:56435312:G:A 2352_1825_609_R->W 0.000599042 248 chr17:56435317:G:A 2352_1820_607_S->L 0.000199681 248 chr17:56435377:G:A 2352_1760_587_P->L 0.000199681 248 chr17:56435387:G:A 2352_1750_584_R->W 0.000199681 248 chr17:56435455:C:T 2352_1682_561_R->Q 0.000199681 248 chr17:56435466:G:T 2352_1671_557_H->Q 0.000199681 248 chr17:56435545:C:T 2352_1592_531_R->H 0.000599042 248 chr17:56435548:G:C 2352_1589_530_P->R 0.000199681 248 chr17:56435552:G:A 2352_1585_529_R->W 0.00778754 248 chr17:56435581:C:T 2352_1556_519_R->Q 0.000199681 248 chr17:56435776:C:T 2352_1361_454_R->H 0.000199681 248 chr17:56435792:T:C 2352_1345_449_S->G 0.000199681 248 chr17:56435885:G:T 2352_1252_418_L->M 0.399561 248 chr17:56435920:G:T 2352_1217_406_A->E 0.000199681 248 chr17:56435948:G:A 2352_1189_397_R->W 0.000199681 248 chr17:56436035:G:A 2352_1102_368_R->W 0.000199681 248 chr17:56436044:C:T 2352_1093_365_A->T 0.00439297 248 chr17:56436109:C:T 2352_1028_343_R->H 0.0652955 248 chr17:56436127:C:T 2352_1010_337_R->Q 0.000798722 248 chr17:56436130:C:T 2352_1007_336_G->D 0.000399361 248 chr17:56436172:A:T 2352_965_322_F->Y 0.000199681 248 chr17:56438182:C:G 2352_811_271_V->L 0.000998403 248 chr17:56438206:C:T 2352_787_263_G->R 0.000199681 248 chr17:56438218:A:C 2352_775_259_W->G 0.000199681 248 chr17:56438229:G:A 2352_764_255_A->V 0.0 248 chr17:56438301:G:A 2352_692_231_P->L 0.0824681 248 chr17:56439918:C:T 2352_674_225_R->H 0.000199681 248 chr17:56439930:C:T 2352_662_221_R->Q 0.0119808 248 chr17:56439937:G:A 2352_655_219_R->C 0.000199681 248 chr17:56440957:C:T 2352_380_127_R->Q 0.00199681 248 chr17:56448297:C:T 2352_350_117_R->H 0.226238 248 chr17:56492800:T:C 2352_139_47_I->V 0.373802 248 na12878 Variants: 248 chr17:56438301:G:A 2352_692_231_P->L 248 snyder Variants: 248 chr17:56438301:G:A 2352_692_231_P->L 249 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000500597 gene_Name: RNF43_HUMAN 249 list of pdbs: 249 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 249 Zimmer Variants: 249 chr17:56438301:G:A 2229_569_190_P->L 249 chr17:56492800:T:C 2229_139_47_I->V 249 HGMD Variants: 249 chr17:56440943:G:A 2229_271_91_R->* 249 oneKG Variants: 249 chr17:56434876:C:G 2229_2138_713_G->A 0.00938498 249 chr17:56435047:T:C 2229_1967_656_H->R 0.000199681 249 chr17:56435080:G:C 2229_1934_645_P->R 0.0782748 249 chr17:56435083:G:T 2229_1931_644_T->N 0.000199681 249 chr17:56435134:C:T 2229_1880_627_R->Q 0.000199681 249 chr17:56435167:C:G 2229_1847_616_R->P 0.0061901 249 chr17:56435197:A:G 2229_1817_606_L->P 0.000199681 249 chr17:56435252:C:T 2229_1762_588_A->T 0.000798722 249 chr17:56435312:G:A 2229_1702_568_R->W 0.000599042 249 chr17:56435317:G:A 2229_1697_566_S->L 0.000199681 249 chr17:56435377:G:A 2229_1637_546_P->L 0.000199681 249 chr17:56435387:G:A 2229_1627_543_R->W 0.000199681 249 chr17:56435455:C:T 2229_1559_520_R->Q 0.000199681 249 chr17:56435466:G:T 2229_1548_516_H->Q 0.000199681 249 chr17:56435545:C:T 2229_1469_490_R->H 0.000599042 249 chr17:56435548:G:C 2229_1466_489_P->R 0.000199681 249 chr17:56435552:G:A 2229_1462_488_R->W 0.00778754 249 chr17:56435581:C:T 2229_1433_478_R->Q 0.000199681 249 chr17:56435776:C:T 2229_1238_413_R->H 0.000199681 249 chr17:56435792:T:C 2229_1222_408_S->G 0.000199681 249 chr17:56435885:G:T 2229_1129_377_L->M 0.399561 249 chr17:56435920:G:T 2229_1094_365_A->E 0.000199681 249 chr17:56435948:G:A 2229_1066_356_R->W 0.000199681 249 chr17:56436035:G:A 2229_979_327_R->W 0.000199681 249 chr17:56436044:C:T 2229_970_324_A->T 0.00439297 249 chr17:56436109:C:T 2229_905_302_R->H 0.0652955 249 chr17:56436127:C:T 2229_887_296_R->Q 0.000798722 249 chr17:56436130:C:T 2229_884_295_G->D 0.000399361 249 chr17:56436172:A:T 2229_842_281_F->Y 0.000199681 249 chr17:56438182:C:G 2229_688_230_V->L 0.000998403 249 chr17:56438206:C:T 2229_664_222_G->R 0.000199681 249 chr17:56438218:A:C 2229_652_218_W->G 0.000199681 249 chr17:56438229:G:A 2229_641_214_A->V 0.0 249 chr17:56438301:G:A 2229_569_190_P->L 0.0824681 249 chr17:56439918:C:T 2229_551_184_R->H 0.000199681 249 chr17:56439930:C:T 2229_539_180_R->Q 0.0119808 249 chr17:56439937:G:A 2229_532_178_R->C 0.000199681 249 chr17:56440957:C:T 2229_257_86_R->Q 0.00199681 249 chr17:56492800:T:C 2229_139_47_I->V 0.373802 249 na12878 Variants: 249 chr17:56438301:G:A 2229_569_190_P->L 249 snyder Variants: 249 chr17:56438301:G:A 2229_569_190_P->L 250 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000583753 gene_Name: RNF43_HUMAN 250 list of pdbs: 250 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 250 Zimmer Variants: 250 chr17:56438301:G:A 2229_569_190_P->L 250 chr17:56492800:T:C 2229_139_47_I->V 250 HGMD Variants: 250 chr17:56440943:G:A 2229_271_91_R->* 250 oneKG Variants: 250 chr17:56434876:C:G 2229_2138_713_G->A 0.00938498 250 chr17:56435047:T:C 2229_1967_656_H->R 0.000199681 250 chr17:56435080:G:C 2229_1934_645_P->R 0.0782748 250 chr17:56435083:G:T 2229_1931_644_T->N 0.000199681 250 chr17:56435134:C:T 2229_1880_627_R->Q 0.000199681 250 chr17:56435167:C:G 2229_1847_616_R->P 0.0061901 250 chr17:56435197:A:G 2229_1817_606_L->P 0.000199681 250 chr17:56435252:C:T 2229_1762_588_A->T 0.000798722 250 chr17:56435312:G:A 2229_1702_568_R->W 0.000599042 250 chr17:56435317:G:A 2229_1697_566_S->L 0.000199681 250 chr17:56435377:G:A 2229_1637_546_P->L 0.000199681 250 chr17:56435387:G:A 2229_1627_543_R->W 0.000199681 250 chr17:56435455:C:T 2229_1559_520_R->Q 0.000199681 250 chr17:56435466:G:T 2229_1548_516_H->Q 0.000199681 250 chr17:56435545:C:T 2229_1469_490_R->H 0.000599042 250 chr17:56435548:G:C 2229_1466_489_P->R 0.000199681 250 chr17:56435552:G:A 2229_1462_488_R->W 0.00778754 250 chr17:56435581:C:T 2229_1433_478_R->Q 0.000199681 250 chr17:56435776:C:T 2229_1238_413_R->H 0.000199681 250 chr17:56435792:T:C 2229_1222_408_S->G 0.000199681 250 chr17:56435885:G:T 2229_1129_377_L->M 0.399561 250 chr17:56435920:G:T 2229_1094_365_A->E 0.000199681 250 chr17:56435948:G:A 2229_1066_356_R->W 0.000199681 250 chr17:56436035:G:A 2229_979_327_R->W 0.000199681 250 chr17:56436044:C:T 2229_970_324_A->T 0.00439297 250 chr17:56436109:C:T 2229_905_302_R->H 0.0652955 250 chr17:56436127:C:T 2229_887_296_R->Q 0.000798722 250 chr17:56436130:C:T 2229_884_295_G->D 0.000399361 250 chr17:56436172:A:T 2229_842_281_F->Y 0.000199681 250 chr17:56438182:C:G 2229_688_230_V->L 0.000998403 250 chr17:56438206:C:T 2229_664_222_G->R 0.000199681 250 chr17:56438218:A:C 2229_652_218_W->G 0.000199681 250 chr17:56438229:G:A 2229_641_214_A->V 0.0 250 chr17:56438301:G:A 2229_569_190_P->L 0.0824681 250 chr17:56439918:C:T 2229_551_184_R->H 0.000199681 250 chr17:56439930:C:T 2229_539_180_R->Q 0.0119808 250 chr17:56439937:G:A 2229_532_178_R->C 0.000199681 250 chr17:56440957:C:T 2229_257_86_R->Q 0.00199681 250 chr17:56492800:T:C 2229_139_47_I->V 0.373802 250 na12878 Variants: 250 chr17:56438301:G:A 2229_569_190_P->L 250 snyder Variants: 250 chr17:56438301:G:A 2229_569_190_P->L 251 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000584437 gene_Name: RNF43_HUMAN 251 list of pdbs: 251 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 251 Zimmer Variants: 251 chr17:56438301:G:A 2352_692_231_P->L 251 chr17:56448297:C:T 2352_350_117_R->H;HUB=REG;GENE=RNF43;CANG=[cancer];CDSS=3 251 chr17:56492800:T:C 2352_139_47_I->V;HUB=REG;GENE=RNF43;CANG=[cancer];CDSS=3 251 HGMD Variants: 251 chr17:56440943:G:A 2352_394_132_R->* 251 chr17:56448310:G:A 2352_337_113_R->* 251 oneKG Variants: 251 chr17:56434876:C:G 2352_2261_754_G->A 0.00938498 251 chr17:56435047:T:C 2352_2090_697_H->R 0.000199681 251 chr17:56435080:G:C 2352_2057_686_P->R 0.0782748 251 chr17:56435083:G:T 2352_2054_685_T->N 0.000199681 251 chr17:56435134:C:T 2352_2003_668_R->Q 0.000199681 251 chr17:56435167:C:G 2352_1970_657_R->P 0.0061901 251 chr17:56435197:A:G 2352_1940_647_L->P 0.000199681 251 chr17:56435252:C:T 2352_1885_629_A->T 0.000798722 251 chr17:56435312:G:A 2352_1825_609_R->W 0.000599042 251 chr17:56435317:G:A 2352_1820_607_S->L 0.000199681 251 chr17:56435377:G:A 2352_1760_587_P->L 0.000199681 251 chr17:56435387:G:A 2352_1750_584_R->W 0.000199681 251 chr17:56435455:C:T 2352_1682_561_R->Q 0.000199681 251 chr17:56435466:G:T 2352_1671_557_H->Q 0.000199681 251 chr17:56435545:C:T 2352_1592_531_R->H 0.000599042 251 chr17:56435548:G:C 2352_1589_530_P->R 0.000199681 251 chr17:56435552:G:A 2352_1585_529_R->W 0.00778754 251 chr17:56435581:C:T 2352_1556_519_R->Q 0.000199681 251 chr17:56435776:C:T 2352_1361_454_R->H 0.000199681 251 chr17:56435792:T:C 2352_1345_449_S->G 0.000199681 251 chr17:56435885:G:T 2352_1252_418_L->M 0.399561 251 chr17:56435920:G:T 2352_1217_406_A->E 0.000199681 251 chr17:56435948:G:A 2352_1189_397_R->W 0.000199681 251 chr17:56436035:G:A 2352_1102_368_R->W 0.000199681 251 chr17:56436044:C:T 2352_1093_365_A->T 0.00439297 251 chr17:56436109:C:T 2352_1028_343_R->H 0.0652955 251 chr17:56436127:C:T 2352_1010_337_R->Q 0.000798722 251 chr17:56436130:C:T 2352_1007_336_G->D 0.000399361 251 chr17:56436172:A:T 2352_965_322_F->Y 0.000199681 251 chr17:56438182:C:G 2352_811_271_V->L 0.000998403 251 chr17:56438206:C:T 2352_787_263_G->R 0.000199681 251 chr17:56438218:A:C 2352_775_259_W->G 0.000199681 251 chr17:56438229:G:A 2352_764_255_A->V 0.0 251 chr17:56438301:G:A 2352_692_231_P->L 0.0824681 251 chr17:56439918:C:T 2352_674_225_R->H 0.000199681 251 chr17:56439930:C:T 2352_662_221_R->Q 0.0119808 251 chr17:56439937:G:A 2352_655_219_R->C 0.000199681 251 chr17:56440957:C:T 2352_380_127_R->Q 0.00199681 251 chr17:56448297:C:T 2352_350_117_R->H 0.226238 251 chr17:56492800:T:C 2352_139_47_I->V 0.373802 251 na12878 Variants: 251 chr17:56438301:G:A 2352_692_231_P->L 251 snyder Variants: 251 chr17:56438301:G:A 2352_692_231_P->L 252 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000577716 gene_Name: RNF43_HUMAN 252 list of pdbs: 252 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 252 Zimmer Variants: 252 chr17:56438301:G:A 2352_692_231_P->L 252 chr17:56448297:C:T 2352_350_117_R->H 252 chr17:56492800:T:C 2352_139_47_I->V 252 HGMD Variants: 252 chr17:56440943:G:A 2352_394_132_R->* 252 chr17:56448310:G:A 2352_337_113_R->* 252 oneKG Variants: 252 chr17:56434876:C:G 2352_2261_754_G->A 0.00938498 252 chr17:56435047:T:C 2352_2090_697_H->R 0.000199681 252 chr17:56435080:G:C 2352_2057_686_P->R 0.0782748 252 chr17:56435083:G:T 2352_2054_685_T->N 0.000199681 252 chr17:56435134:C:T 2352_2003_668_R->Q 0.000199681 252 chr17:56435167:C:G 2352_1970_657_R->P 0.0061901 252 chr17:56435197:A:G 2352_1940_647_L->P 0.000199681 252 chr17:56435252:C:T 2352_1885_629_A->T 0.000798722 252 chr17:56435312:G:A 2352_1825_609_R->W 0.000599042 252 chr17:56435317:G:A 2352_1820_607_S->L 0.000199681 252 chr17:56435377:G:A 2352_1760_587_P->L 0.000199681 252 chr17:56435387:G:A 2352_1750_584_R->W 0.000199681 252 chr17:56435455:C:T 2352_1682_561_R->Q 0.000199681 252 chr17:56435466:G:T 2352_1671_557_H->Q 0.000199681 252 chr17:56435545:C:T 2352_1592_531_R->H 0.000599042 252 chr17:56435548:G:C 2352_1589_530_P->R 0.000199681 252 chr17:56435552:G:A 2352_1585_529_R->W 0.00778754 252 chr17:56435581:C:T 2352_1556_519_R->Q 0.000199681 252 chr17:56435776:C:T 2352_1361_454_R->H 0.000199681 252 chr17:56435792:T:C 2352_1345_449_S->G 0.000199681 252 chr17:56435885:G:T 2352_1252_418_L->M 0.399561 252 chr17:56435920:G:T 2352_1217_406_A->E 0.000199681 252 chr17:56435948:G:A 2352_1189_397_R->W 0.000199681 252 chr17:56436035:G:A 2352_1102_368_R->W 0.000199681 252 chr17:56436044:C:T 2352_1093_365_A->T 0.00439297 252 chr17:56436109:C:T 2352_1028_343_R->H 0.0652955 252 chr17:56436127:C:T 2352_1010_337_R->Q 0.000798722 252 chr17:56436130:C:T 2352_1007_336_G->D 0.000399361 252 chr17:56436172:A:T 2352_965_322_F->Y 0.000199681 252 chr17:56438182:C:G 2352_811_271_V->L 0.000998403 252 chr17:56438206:C:T 2352_787_263_G->R 0.000199681 252 chr17:56438218:A:C 2352_775_259_W->G 0.000199681 252 chr17:56438229:G:A 2352_764_255_A->V 0.0 252 chr17:56438301:G:A 2352_692_231_P->L 0.0824681 252 chr17:56439918:C:T 2352_674_225_R->H 0.000199681 252 chr17:56439930:C:T 2352_662_221_R->Q 0.0119808 252 chr17:56439937:G:A 2352_655_219_R->C 0.000199681 252 chr17:56440957:C:T 2352_380_127_R->Q 0.00199681 252 chr17:56448297:C:T 2352_350_117_R->H 0.226238 252 chr17:56492800:T:C 2352_139_47_I->V 0.373802 252 na12878 Variants: 252 chr17:56438301:G:A 2352_692_231_P->L 252 snyder Variants: 252 chr17:56438301:G:A 2352_692_231_P->L 253 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108375_ENST00000577625 gene_Name: RNF43_HUMAN 253 list of pdbs: 253 4KNG pdb_description: 19-Jun-13 X-ray 2.500 Crystal structure of human lgr5-rspo1-rnf43 253 Zimmer Variants: 253 chr17:56438301:G:A 1971_311_104_P->L 253 HGMD Variants: 253 chr17:56440943:G:A 1971_13_5_R->* 253 oneKG Variants: 253 chr17:56434876:C:G 1971_1880_627_G->A 0.00938498 253 chr17:56435047:T:C 1971_1709_570_H->R 0.000199681 253 chr17:56435080:G:C 1971_1676_559_P->R 0.0782748 253 chr17:56435083:G:T 1971_1673_558_T->N 0.000199681 253 chr17:56435134:C:T 1971_1622_541_R->Q 0.000199681 253 chr17:56435167:C:G 1971_1589_530_R->P 0.0061901 253 chr17:56435197:A:G 1971_1559_520_L->P 0.000199681 253 chr17:56435252:C:T 1971_1504_502_A->T 0.000798722 253 chr17:56435312:G:A 1971_1444_482_R->W 0.000599042 253 chr17:56435317:G:A 1971_1439_480_S->L 0.000199681 253 chr17:56435377:G:A 1971_1379_460_P->L 0.000199681 253 chr17:56435387:G:A 1971_1369_457_R->W 0.000199681 253 chr17:56435455:C:T 1971_1301_434_R->Q 0.000199681 253 chr17:56435466:G:T 1971_1290_430_H->Q 0.000199681 253 chr17:56435545:C:T 1971_1211_404_R->H 0.000599042 253 chr17:56435548:G:C 1971_1208_403_P->R 0.000199681 253 chr17:56435552:G:A 1971_1204_402_R->W 0.00778754 253 chr17:56435581:C:T 1971_1175_392_R->Q 0.000199681 253 chr17:56435776:C:T 1971_980_327_R->H 0.000199681 253 chr17:56435792:T:C 1971_964_322_S->G 0.000199681 253 chr17:56435885:G:T 1971_871_291_L->M 0.399561 253 chr17:56435920:G:T 1971_836_279_A->E 0.000199681 253 chr17:56435948:G:A 1971_808_270_R->W 0.000199681 253 chr17:56436035:G:A 1971_721_241_R->W 0.000199681 253 chr17:56436044:C:T 1971_712_238_A->T 0.00439297 253 chr17:56436109:C:T 1971_647_216_R->H 0.0652955 253 chr17:56436127:C:T 1971_629_210_R->Q 0.000798722 253 chr17:56436130:C:T 1971_626_209_G->D 0.000399361 253 chr17:56436172:A:T 1971_584_195_F->Y 0.000199681 253 chr17:56438182:C:G 1971_430_144_V->L 0.000998403 253 chr17:56438206:C:T 1971_406_136_G->R 0.000199681 253 chr17:56438218:A:C 1971_394_132_W->G 0.000199681 253 chr17:56438229:G:A 1971_383_128_A->V 0.0 253 chr17:56438301:G:A 1971_311_104_P->L 0.0824681 253 chr17:56439918:C:T 1971_293_98_R->H 0.000199681 253 chr17:56439930:C:T 1971_281_94_R->Q 0.0119808 253 chr17:56439937:G:A 1971_274_92_R->C 0.000199681 253 na12878 Variants: 253 chr17:56438301:G:A 1971_311_104_P->L 253 snyder Variants: 253 chr17:56438301:G:A 1971_311_104_P->L 254 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178999_ENST00000534871 gene_Name: AURKB_HUMAN 254 list of pdbs: 254 4AF3 pdb_description: 11-Apr-12 X-ray 2.750 Human aurora b kinase in complex with incenp and vx-680 254 Zimmer Variants: 254 chr17:8108331:A:G 912_770_257_M->T;HUB=PHOS&PPI;GNEG=Yes;GENE=AURKB;CANG=[actionable];CDSS=3 254 HGMD Variants: 254 chr17:8108344:C:T 912_757_253_A->T 254 chr17:8110656:A:G 912_113_38_I->T 254 chr17:8110940:G:A 912_32_11_A->V 254 oneKG Variants: 254 chr17:8108194:C:T 912_907_303_A->T 0.000199681 254 chr17:8108238:G:A 912_863_288_A->V 0.000199681 254 chr17:8108251:G:A 912_850_284_P->S 0.000599042 254 chr17:8108313:A:G 912_788_263_I->T 0.000199681 254 chr17:8108331:A:G 912_770_257_M->T 0.263978 254 chr17:8108344:C:T 912_757_253_A->T 0.00179712 254 chr17:8108559:T:C 912_713_238_N->S 0.000199681 254 chr17:8108628:A:T 912_644_215_L->Q 0.000199681 254 chr17:8109861:C:G 912_511_171_G->R 0.000798722 254 chr17:8110076:T:C 912_406_136_T->A 0.000399361 254 chr17:8110130:G:A 912_352_118_R->C 0.000199681 254 chr17:8110166:G:A 912_316_106_R->W 0.000399361 254 chr17:8110550:C:A 912_219_73_E->D 0.000199681 254 chr17:8110585:C:T 912_184_62_V->M 0.00279553 254 chr17:8110608:C:T 912_161_54_R->Q 0.000199681 254 chr17:8110656:A:G 912_113_38_I->T 0.000199681 254 chr17:8110914:T:C 912_58_20_S->G 0.000199681 254 chr17:8110940:G:A 912_32_11_A->V 0.00758786 254 chr17:8111076:C:T 912_8_3_R->H 0.000199681 254 chr17:8111077:G:A 912_7_3_R->C 0.000199681 254 na12878 Variants: 254 chr17:8108331:A:G 912_770_257_M->T 254 snyder Variants: 254 chr17:8108331:A:G 912_770_257_M->T 255 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178999_ENST00000585124 gene_Name: AURKB_HUMAN 255 list of pdbs: 255 4AF3 pdb_description: 11-Apr-12 X-ray 2.750 Human aurora b kinase in complex with incenp and vx-680 255 Zimmer Variants: 255 chr17:8108331:A:G 1035_893_298_M->T 255 HGMD Variants: 255 chr17:8108344:C:T 1035_880_294_A->T 255 chr17:8110656:A:G 1035_236_79_I->T 255 chr17:8110940:G:A 1035_155_52_A->V 255 oneKG Variants: 255 chr17:8108194:C:T 1035_1030_344_A->T 0.000199681 255 chr17:8108238:G:A 1035_986_329_A->V 0.000199681 255 chr17:8108251:G:A 1035_973_325_P->S 0.000599042 255 chr17:8108313:A:G 1035_911_304_I->T 0.000199681 255 chr17:8108331:A:G 1035_893_298_M->T 0.263978 255 chr17:8108344:C:T 1035_880_294_A->T 0.00179712 255 chr17:8108559:T:C 1035_836_279_N->S 0.000199681 255 chr17:8108628:A:T 1035_767_256_L->Q 0.000199681 255 chr17:8109861:C:G 1035_634_212_G->R 0.000798722 255 chr17:8110076:T:C 1035_529_177_T->A 0.000399361 255 chr17:8110130:G:A 1035_475_159_R->C 0.000199681 255 chr17:8110166:G:A 1035_439_147_R->W 0.000399361 255 chr17:8110550:C:A 1035_342_114_E->D 0.000199681 255 chr17:8110585:C:T 1035_307_103_V->M 0.00279553 255 chr17:8110608:C:T 1035_284_95_R->Q 0.000199681 255 chr17:8110656:A:G 1035_236_79_I->T 0.000199681 255 chr17:8110914:T:C 1035_181_61_S->G 0.000199681 255 chr17:8110940:G:A 1035_155_52_A->V 0.00758786 255 chr17:8111076:C:T 1035_131_44_R->H 0.000199681 255 chr17:8111077:G:A 1035_130_44_R->C 0.000199681 255 chr17:8113520:T:A 1035_23_8_Y->F 0.00139776 255 na12878 Variants: 255 chr17:8108331:A:G 1035_893_298_M->T 255 snyder Variants: 255 chr17:8108331:A:G 1035_893_298_M->T 256 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178999_ENST00000578549 gene_Name: AURKB_HUMAN 256 list of pdbs: 256 4AF3 pdb_description: 11-Apr-12 X-ray 2.750 Human aurora b kinase in complex with incenp and vx-680 256 Zimmer Variants: 256 chr17:8108331:A:G 939_797_266_M->T 256 HGMD Variants: 256 chr17:8108344:C:T 939_784_262_A->T 256 chr17:8110656:A:G 939_236_79_I->T 256 chr17:8110940:G:A 939_155_52_A->V 256 oneKG Variants: 256 chr17:8108194:C:T 939_934_312_A->T 0.000199681 256 chr17:8108238:G:A 939_890_297_A->V 0.000199681 256 chr17:8108251:G:A 939_877_293_P->S 0.000599042 256 chr17:8108313:A:G 939_815_272_I->T 0.000199681 256 chr17:8108331:A:G 939_797_266_M->T 0.263978 256 chr17:8108344:C:T 939_784_262_A->T 0.00179712 256 chr17:8108559:T:C 939_740_247_N->S 0.000199681 256 chr17:8108628:A:T 939_671_224_L->Q 0.000199681 256 chr17:8109861:C:G 939_538_180_G->R 0.000798722 256 chr17:8110076:T:C 939_433_145_T->A 0.000399361 256 chr17:8110130:G:A 939_379_127_R->C 0.000199681 256 chr17:8110166:G:A 939_343_115_R->W 0.000399361 256 chr17:8110656:A:G 939_236_79_I->T 0.000199681 256 chr17:8110914:T:C 939_181_61_S->G 0.000199681 256 chr17:8110940:G:A 939_155_52_A->V 0.00758786 256 chr17:8111076:C:T 939_131_44_R->H 0.000199681 256 chr17:8111077:G:A 939_130_44_R->C 0.000199681 256 chr17:8113520:T:A 939_23_8_Y->F 0.00139776 256 na12878 Variants: 256 chr17:8108331:A:G 939_797_266_M->T 256 snyder Variants: 256 chr17:8108331:A:G 939_797_266_M->T 257 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141458_ENST00000269228 gene_Name: NPC1_HUMAN 257 list of pdbs: 257 3GKJ pdb_description: 14-Jul-09 X-ray 1.600 Npc1d(ntd):25hydroxycholesterol 257 3GKI pdb_description: 14-Jul-09 X-ray 1.800 Npc1(ntd):cholesterol 257 3GKH pdb_description: 14-Jul-09 X-ray 1.810 Npc1(ntd) 257 Zimmer Variants: 257 chr18:21120444:T:C 3837_2572_858_I->V 257 chr18:21140432:T:C 3837_644_215_H->R;GNEG=Yes;GENE=NPC1;CDSS=2 257 HGMD Variants: 257 chr18:21114439:C:A 3837_3562_1188_E->* 257 chr18:21115449:A:T 3837_3461_1154_L->* 257 chr18:21115482:C:T 3837_3428_1143_W->* 257 chr18:21115645:C:A 3837_3265_1089_E->* 257 chr18:21116639:G:C 3837_3243_1081_Y->* 257 chr18:21116707:G:A 3837_3175_1059_R->* 257 chr18:21119337:G:A 3837_2893_965_Q->* 257 chr18:21119358:G:A 3837_2872_958_R->* 257 chr18:21119411:G:T 3837_2819_940_S->* 257 chr18:21119430:G:A 3837_2800_934_R->* 257 chr18:21119806:G:A 3837_2764_922_Q->* 257 chr18:21119809:G:A 3837_2761_921_Q->* 257 chr18:21119900:G:C 3837_2670_890_Y->* 257 chr18:21121048:C:T 3837_2498_833_W->* 257 chr18:21121108:G:C 3837_2438_813_S->* 257 chr18:21121320:G:A 3837_2323_775_Q->* 257 chr18:21123451:G:T 3837_2213_738_S->* 257 chr18:21124310:G:A 3837_2128_710_Q->* 257 chr18:21124936:A:T 3837_1935_645_C->* 257 chr18:21125052:G:A 3837_1819_607_R->* 257 chr18:21134936:G:A 3837_1339_447_Q->* 257 chr18:21136259:G:T 3837_1274_425_S->* 257 chr18:21136272:G:A 3837_1261_421_Q->* 257 chr18:21136344:G:A 3837_1189_397_Q->* 257 chr18:21136491:G:A 3837_1042_348_R->* 257 chr18:21140296:C:T 3837_780_260_W->* 257 chr18:21141326:G:T 3837_629_210_S->* 257 chr18:21141388:C:T 3837_567_189_W->* 257 chr18:21148904:G:A 3837_346_116_R->* 257 chr18:21113319:C:G 3837_3754_1252_G->R 257 chr18:21113328:T:C 3837_3745_1249_S->G 257 chr18:21113342:A:G 3837_3731_1244_L->P 257 chr18:21113355:C:T 3837_3718_1240_G->R 257 chr18:21113355:C:G 3837_3718_1240_G->R 257 chr18:21113366:C:T 3837_3707_1236_G->E 257 chr18:21113401:G:C 3837_3672_1224_F->L 257 chr18:21113426:G:A 3837_3647_1216_A->V 257 chr18:21113434:C:G 3837_3639_1213_L->F 257 chr18:21113436:A:C 3837_3637_1213_L->V 257 chr18:21113439:C:A 3837_3634_1212_V->L 257 chr18:21113447:C:T 3837_3626_1209_G->E 257 chr18:21113459:G:T 3837_3614_1205_T->K 257 chr18:21113459:G:C 3837_3614_1205_T->R 257 chr18:21113475:T:C 3837_3598_1200_S->G 257 chr18:21114417:C:A 3837_3584_1195_G->V 257 chr18:21114430:G:A 3837_3571_1191_L->F 257 chr18:21114435:T:C 3837_3566_1189_E->G 257 chr18:21114441:G:A 3837_3560_1187_A->V 257 chr18:21114444:C:T 3837_3557_1186_R->H 257 chr18:21114445:G:C 3837_3556_1186_R->G 257 chr18:21114480:G:A 3837_3521_1174_A->V 257 chr18:21114498:C:T 3837_3503_1168_C->Y 257 chr18:21114501:A:C 3837_3500_1167_F->C 257 chr18:21114502:A:G 3837_3499_1167_F->L 257 chr18:21114508:C:T 3837_3493_1165_V->M 257 chr18:21114516:C:A 3837_3485_1162_G->V 257 chr18:21114516:C:G 3837_3485_1162_G->A 257 chr18:21115438:C:T 3837_3472_1158_V->M 257 chr18:21115443:T:A 3837_3467_1156_N->I 257 chr18:21115443:T:C 3837_3467_1156_N->S 257 chr18:21115459:C:T 3837_3451_1151_A->T 257 chr18:21115460:G:T 3837_3450_1150_N->K 257 chr18:21115477:A:G 3837_3433_1145_W->R 257 chr18:21115485:A:G 3837_3425_1142_M->T 257 chr18:21115488:A:C 3837_3422_1141_V->G 257 chr18:21115491:C:A 3837_3419_1140_G->V 257 chr18:21115500:T:A 3837_3410_1137_N->I 257 chr18:21115516:C:G 3837_3394_1132_A->P 257 chr18:21115591:C:G 3837_3319_1107_G->R 257 chr18:21115593:A:G 3837_3317_1106_L->P 257 chr18:21115606:G:A 3837_3304_1102_L->F 257 chr18:21115621:C:T 3837_3289_1097_D->N 257 chr18:21115629:A:G 3837_3281_1094_I->T 257 chr18:21115645:C:T 3837_3265_1089_E->K 257 chr18:21115647:T:C 3837_3263_1088_Y->C 257 chr18:21115651:A:G 3837_3259_1087_F->L 257 chr18:21116646:A:G 3837_3236_1079_F->S 257 chr18:21116652:C:T 3837_3230_1077_R->Q 257 chr18:21116685:G:T 3837_3197_1066_T->N 257 chr18:21116688:A:C 3837_3194_1065_V->G 257 chr18:21116697:G:A 3837_3185_1062_A->V 257 chr18:21116700:A:G 3837_3182_1061_I->T 257 chr18:21116706:C:T 3837_3176_1059_R->Q 257 chr18:21116722:C:T 3837_3160_1054_A->T 257 chr18:21116775:G:A 3837_3107_1036_T->M 257 chr18:21116775:G:T 3837_3107_1036_T->K 257 chr18:21116778:G:A 3837_3104_1035_A->V 257 chr18:21116782:C:T 3837_3100_1034_G->R 257 chr18:21116814:A:C 3837_3068_1023_V->G 257 chr18:21116826:T:C 3837_3056_1019_Y->C 257 chr18:21116833:C:T 3837_3049_1017_A->T 257 chr18:21116835:T:C 3837_3047_1016_H->R 257 chr18:21116835:T:A 3837_3047_1016_H->L 257 chr18:21116838:C:A 3837_3044_1015_G->V 257 chr18:21118512:C:T 3837_3035_1012_G->D 257 chr18:21118527:G:C 3837_3020_1007_P->R 257 chr18:21118527:G:A 3837_3020_1007_P->L 257 chr18:21118528:G:C 3837_3019_1007_P->A 257 chr18:21118536:G:A 3837_3011_1004_S->L 257 chr18:21118545:A:G 3837_3002_1001_M->T 257 chr18:21118546:T:C 3837_3001_1001_M->V 257 chr18:21118560:A:C 3837_2987_996_M->R 257 chr18:21118564:A:G 3837_2983_995_F->L 257 chr18:21118572:C:T 3837_2975_992_G->E 257 chr18:21118572:C:G 3837_2975_992_G->A 257 chr18:21118573:C:A 3837_2974_992_G->W 257 chr18:21118573:C:G 3837_2974_992_G->R 257 chr18:21118573:C:T 3837_2974_992_G->R 257 chr18:21118591:C:T 3837_2956_986_G->S 257 chr18:21118615:G:A 3837_2932_978_R->C 257 chr18:21118621:A:G 3837_2926_976_C->R 257 chr18:21119319:C:G 3837_2911_971_V->L 257 chr18:21119327:T:C 3837_2903_968_N->S 257 chr18:21119348:T:C 3837_2882_961_N->S 257 chr18:21119354:A:T 3837_2876_959_V->E 257 chr18:21119357:C:A 3837_2873_958_R->L 257 chr18:21119357:C:T 3837_2873_958_R->Q 257 chr18:21119363:C:T 3837_2867_956_C->Y 257 chr18:21119369:G:A 3837_2861_954_S->L 257 chr18:21119381:A:C 3837_2849_950_V->G 257 chr18:21119382:C:T 3837_2848_950_V->M 257 chr18:21119388:C:A 3837_2842_948_D->Y 257 chr18:21119388:C:G 3837_2842_948_D->H 257 chr18:21119388:C:T 3837_2842_948_D->N 257 chr18:21119397:C:T 3837_2833_945_D->N 257 chr18:21119400:C:T 3837_2830_944_D->N 257 chr18:21119401:G:C 3837_2829_943_I->M 257 chr18:21119404:C:A 3837_2826_942_W->C 257 chr18:21119411:G:A 3837_2819_940_S->L 257 chr18:21119429:C:T 3837_2801_934_R->Q 257 chr18:21119784:A:G 3837_2786_929_L->P 257 chr18:21119787:T:G 3837_2783_928_Q->P 257 chr18:21119790:G:A 3837_2780_927_A->V 257 chr18:21119793:G:A 3837_2777_926_A->V 257 chr18:21119794:C:T 3837_2776_926_A->T 257 chr18:21119803:T:C 3837_2767_923_I->V 257 chr18:21119808:T:G 3837_2762_921_Q->P 257 chr18:21119821:C:A 3837_2749_917_D->Y 257 chr18:21119829:C:A 3837_2741_914_C->F 257 chr18:21119842:C:T 3837_2728_910_G->S 257 chr18:21119875:A:C 3837_2695_899_Y->D 257 chr18:21119878:C:T 3837_2692_898_D->N 257 chr18:21119901:T:C 3837_2669_890_Y->C 257 chr18:21119905:C:T 3837_2665_889_V->M 257 chr18:21119908:G:A 3837_2662_888_P->S 257 chr18:21119910:G:A 3837_2660_887_P->L 257 chr18:21119914:C:G 3837_2656_886_G->R 257 chr18:21119949:T:A 3837_2621_874_D->V 257 chr18:21119958:T:C 3837_2612_871_Y->C 257 chr18:21120417:G:A 3837_2599_867_P->S 257 chr18:21120422:G:A 3837_2594_865_S->L 257 chr18:21120431:T:A 3837_2585_862_Q->L 257 chr18:21120470:C:A 3837_2546_849_S->I 257 chr18:21121037:T:C 3837_2509_837_I->V 257 chr18:21121057:A:G 3837_2489_830_L->P 257 chr18:21121072:T:C 3837_2474_825_Y->C 257 chr18:21121148:A:G 3837_2398_800_C->R 257 chr18:21121172:T:C 3837_2374_792_K->E 257 chr18:21121277:C:T 3837_2366_789_R->H 257 chr18:21121278:G:A 3837_2365_789_R->C 257 chr18:21121278:G:C 3837_2365_789_R->G 257 chr18:21121304:A:C 3837_2339_780_V->G 257 chr18:21121308:A:G 3837_2335_779_F->L 257 chr18:21121319:T:G 3837_2324_775_Q->P 257 chr18:21121343:G:A 3837_2300_767_A->V 257 chr18:21121352:G:A 3837_2291_764_A->V 257 chr18:21121356:A:G 3837_2287_763_F->L 257 chr18:21121382:A:T 3837_2261_754_M->K 257 chr18:21123430:G:T 3837_2234_745_A->E 257 chr18:21123440:C:T 3837_2224_742_E->K 257 chr18:21123463:C:A 3837_2201_734_S->I 257 chr18:21123466:G:C 3837_2198_733_P->R 257 chr18:21123478:C:T 3837_2186_729_G->E 257 chr18:21123485:C:A 3837_2179_727_V->F 257 chr18:21123487:C:G 3837_2177_726_R->T 257 chr18:21123493:A:G 3837_2171_724_L->P 257 chr18:21124330:A:G 3837_2108_703_F->S 257 chr18:21124340:C:T 3837_2098_700_D->N 257 chr18:21124355:G:C 3837_2083_695_L->V 257 chr18:21124366:G:A 3837_2072_691_P->L 257 chr18:21124367:G:A 3837_2071_691_P->S 257 chr18:21124384:A:G 3837_2054_685_I->T 257 chr18:21124388:G:A 3837_2050_684_L->F 257 chr18:21124420:C:A 3837_2018_673_G->V 257 chr18:21124428:G:C 3837_2010_670_C->W 257 chr18:21124438:G:A 3837_2000_667_S->L 257 chr18:21124441:C:T 3837_1997_666_S->N 257 chr18:21124448:C:T 3837_1990_664_V->M 257 chr18:21124460:C:T 3837_1978_660_G->S 257 chr18:21124483:G:C 3837_1955_652_S->W 257 chr18:21124928:A:T 3837_1943_648_L->H 257 chr18:21124953:C:T 3837_1918_640_G->R 257 chr18:21124964:G:A 3837_1907_636_S->F 257 chr18:21124970:T:C 3837_1901_634_Y->C 257 chr18:21124979:A:C 3837_1892_631_M->R 257 chr18:21124988:T:C 3837_1883_628_Y->C 257 chr18:21125027:C:A 3837_1844_615_R->L 257 chr18:21125028:G:A 3837_1843_615_R->C 257 chr18:21125035:T:G 3837_1836_612_E->D 257 chr18:21125039:T:C 3837_1832_611_D->G 257 chr18:21125046:T:A 3837_1825_609_I->F 257 chr18:21125057:G:A 3837_1814_605_A->V 257 chr18:21128000:T:C 3837_1727_576_K->R 257 chr18:21128015:T:C 3837_1712_571_Y->C 257 chr18:21128055:C:T 3837_1672_558_A->T 257 chr18:21128055:C:A 3837_1672_558_A->S 257 chr18:21131599:C:A 3837_1646_549_G->V 257 chr18:21131617:G:A 3837_1628_543_P->L 257 chr18:21131633:C:G 3837_1612_538_G->R 257 chr18:21131634:A:T 3837_1611_537_F->L 257 chr18:21131641:C:A 3837_1604_535_G->V 257 chr18:21131650:G:A 3837_1595_532_P->L 257 chr18:21131684:C:A 3837_1561_521_A->S 257 chr18:21134722:C:T 3837_1553_518_R->Q 257 chr18:21134722:C:T 3837_1553_518_R->Q 257 chr18:21134723:G:A 3837_1552_518_R->W 257 chr18:21134740:T:C 3837_1535_512_H->R 257 chr18:21134746:T:G 3837_1529_510_H->P 257 chr18:21134749:T:C 3837_1526_509_Y->C 257 chr18:21134749:T:G 3837_1526_509_Y->S 257 chr18:21134773:T:A 3837_1502_501_D->V 257 chr18:21134774:C:A 3837_1501_501_D->Y 257 chr18:21134839:C:T 3837_1436_479_C->Y 257 chr18:21134854:G:A 3837_1421_474_P->L 257 chr18:21134855:G:C 3837_1420_474_P->A 257 chr18:21134858:A:G 3837_1417_473_S->P 257 chr18:21134860:A:T 3837_1415_472_L->H 257 chr18:21134867:C:G 3837_1408_470_A->P 257 chr18:21134924:C:T 3837_1351_451_E->K 257 chr18:21136232:G:A 3837_1301_434_P->L 257 chr18:21136235:G:A 3837_1298_433_P->L 257 chr18:21136301:C:G 3837_1232_411_R->P 257 chr18:21136322:C:G 3837_1211_404_R->P 257 chr18:21136322:C:T 3837_1211_404_R->Q 257 chr18:21136323:G:A 3837_1210_404_R->W 257 chr18:21136331:G:A 3837_1202_401_P->L 257 chr18:21136332:G:T 3837_1201_401_P->T 257 chr18:21136361:T:C 3837_1172_391_E->G 257 chr18:21136367:C:A 3837_1166_389_R->L 257 chr18:21136368:G:A 3837_1165_389_R->C 257 chr18:21136371:C:G 3837_1162_388_A->P 257 chr18:21136390:C:G 3837_1143_381_W->C 257 chr18:21136395:G:A 3837_1138_380_L->F 257 chr18:21136400:A:G 3837_1133_378_V->A 257 chr18:21136419:G:A 3837_1114_372_R->W 257 chr18:21136505:C:T 3837_1028_343_G->E 257 chr18:21140250:A:G 3837_826_276_Y->H 257 chr18:21140261:A:C 3837_815_272_M->R 257 chr18:21140333:C:A 3837_743_248_G->V 257 chr18:21140336:C:T 3837_740_247_C->Y 257 chr18:21140352:C:T 3837_724_242_D->N 257 chr18:21140352:C:G 3837_724_242_D->H 257 chr18:21140366:G:A 3837_710_237_P->L 257 chr18:21140367:G:A 3837_709_237_P->S 257 chr18:21140384:A:C 3837_692_231_V->G 257 chr18:21140411:T:C 3837_665_222_N->S 257 chr18:21141392:T:C 3837_563_188_N->S 257 chr18:21141425:C:T 3837_530_177_C->Y 257 chr18:21141426:A:C 3837_529_177_C->G 257 chr18:21141458:G:A 3837_497_166_P->L 257 chr18:21141459:G:A 3837_496_166_P->S 257 chr18:21141461:G:A 3837_494_165_A->V 257 chr18:21141488:A:G 3837_467_156_M->T 257 chr18:21148840:G:A 3837_410_137_T->M 257 chr18:21148913:A:G 3837_337_113_C->R 257 chr18:21148952:A:T 3837_298_100_C->S 257 chr18:21152050:T:C 3837_275_92_Q->R 257 chr18:21152104:C:T 3837_221_74_C->Y 257 chr18:21152138:A:G 3837_187_63_C->R 257 chr18:21166301:C:T 3837_7_3_A->T 257 oneKG Variants: 257 chr18:21112183:G:A 3837_3820_1274_R->W 0.000199681 257 chr18:21112188:C:T 3837_3815_1272_R->H 0.000199681 257 chr18:21112189:G:A 3837_3814_1272_R->C 0.000199681 257 chr18:21112206:C:T 3837_3797_1266_R->Q 0.15016 257 chr18:21113475:T:C 3837_3598_1200_S->G 0.00259585 257 chr18:21114441:G:A 3837_3560_1187_A->V 0.000199681 257 chr18:21114444:C:T 3837_3557_1186_R->H 0.000199681 257 chr18:21114453:C:T 3837_3548_1183_R->H 0.000399361 257 chr18:21114466:T:C 3837_3535_1179_M->V 0.00479233 257 chr18:21114474:G:A 3837_3527_1176_T->M 0.000199681 257 chr18:21115567:C:A 3837_3343_1115_V->F 0.00299521 257 chr18:21116665:C:T 3837_3217_1073_G->S 0.000599042 257 chr18:21118519:T:G 3837_3028_1010_K->Q 0.000199681 257 chr18:21118528:G:C 3837_3019_1007_P->A 0.000199681 257 chr18:21118536:G:A 3837_3011_1004_S->L 0.000199681 257 chr18:21118573:C:G 3837_2974_992_G->R 0.000199681 257 chr18:21119348:T:C 3837_2882_961_N->S 0.00339457 257 chr18:21119794:C:T 3837_2776_926_A->T 0.000199681 257 chr18:21119839:C:T 3837_2731_911_G->S 0.00259585 257 chr18:21119878:C:T 3837_2692_898_D->N 0.000199681 257 chr18:21120444:T:C 3837_2572_858_I->V 0.485823 257 chr18:21120466:G:C 3837_2550_850_I->M 0.000199681 257 chr18:21120483:C:A 3837_2533_845_V->F 0.000199681 257 chr18:21120492:A:G 3837_2524_842_F->L 0.000798722 257 chr18:21121069:G:T 3837_2477_826_S->Y 0.000199681 257 chr18:21121118:C:A 3837_2428_810_V->F 0.000599042 257 chr18:21121305:C:T 3837_2338_780_V->M 0.000199681 257 chr18:21124934:C:T 3837_1937_646_R->H 0.000199681 257 chr18:21124945:C:G 3837_1926_642_M->I 0.168331 257 chr18:21125001:C:T 3837_1870_624_V->I 0.000399361 257 chr18:21125078:T:C 3837_1793_598_N->S 0.000199681 257 chr18:21131684:C:A 3837_1561_521_A->S 0.000199681 257 chr18:21134726:C:T 3837_1549_517_V->I 0.000599042 257 chr18:21134743:G:A 3837_1532_511_T->M 0.00319489 257 chr18:21134769:G:C 3837_1506_502_D->E 0.000399361 257 chr18:21134863:G:A 3837_1412_471_P->L 0.000199681 257 chr18:21134870:A:C 3837_1405_469_L->V 0.000199681 257 chr18:21136233:G:A 3837_1300_434_P->S 0.0113818 257 chr18:21136301:C:T 3837_1232_411_R->Q 0.00339457 257 chr18:21136523:C:T 3837_1010_337_R->Q 0.000399361 257 chr18:21136548:C:T 3837_985_329_A->T 0.000199681 257 chr18:21136571:G:A 3837_962_321_A->V 0.000199681 257 chr18:21140203:C:A 3837_873_291_W->C 0.000599042 257 chr18:21140327:T:G 3837_749_250_K->T 0.000199681 257 chr18:21140330:G:A 3837_746_249_P->L 0.000199681 257 chr18:21140367:G:A 3837_709_237_P->S 0.00459265 257 chr18:21140381:T:C 3837_695_232_D->G 0.000199681 257 chr18:21140411:T:C 3837_665_222_N->S 0.00139776 257 chr18:21140432:T:C 3837_644_215_H->R 0.21865 257 chr18:21141375:A:G 3837_580_194_F->L 0.000199681 257 chr18:21141381:A:G 3837_574_192_Y->H 0.000199681 257 chr18:21141392:T:C 3837_563_188_N->S 0.000199681 257 chr18:21141407:G:A 3837_548_183_A->V 0.000199681 257 chr18:21141408:C:T 3837_547_183_A->T 0.000199681 257 chr18:21141411:C:T 3837_544_182_D->N 0.000199681 257 chr18:21141414:C:T 3837_541_181_A->T 0.000199681 257 chr18:21148805:C:T 3837_445_149_G->R 0.00219649 257 chr18:21148808:C:G 3837_442_148_V->L 0.000199681 257 chr18:21148852:A:C 3837_398_133_V->G 0.000199681 257 chr18:21148903:C:T 3837_347_116_R->Q 0.000199681 257 chr18:21152092:C:T 3837_233_78_R->Q 0.000399361 257 chr18:21152116:T:C 3837_209_70_N->S 0.000199681 257 chr18:21153416:C:A 3837_180_60_Q->H 0.000399361 257 na12878 Variants: 257 chr18:21120444:T:C 3837_2572_858_I->V 257 chr18:21140432:T:C 3837_644_215_H->R 257 snyder Variants: 257 chr18:21120444:T:C 3837_2572_858_I->V 257 chr18:21140432:T:C 3837_644_215_H->R 258 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000187323_ENST00000442544 gene_Name: DCC_HUMAN 258 list of pdbs: 258 3AU4 pdb_description: 13-Jul-11 X-ray 1.900 Structure of the human myosin-x myth4-ferm cassette bound to specific cargo, dcc 258 2EDE pdb_description: 04-Mar-08 NMR 20 Solution structure of the sixth fibronectin type iii domain of human netrin receptor dcc 258 2EDD pdb_description: 04-Mar-08 NMR 20 Solution structure of the fifth fibronectin type iii domain of human netrin receptor dcc 258 2EDB pdb_description: 04-Mar-08 NMR 20 Solution structure of the fourth fibronectin type iii domain of human netrin receptor dcc 258 2ED9 pdb_description: 04-Mar-08 NMR 20 Solution structure of the third fibronectin type iii domain of human netrin receptor dcc 258 2ED8 pdb_description: 26-Feb-08 NMR 20 Solution structure of the second fibronectin type iii domain of human netrin receptor dcc 258 2ED7 pdb_description: 26-Feb-08 NMR 20 Solution structure of the first fibronectin type iii domain of human netrin receptor dcc 258 Zimmer Variants: 258 chr18:49867224:T:C 4344_67_23_F->L;GNEG=Yes;GENE=DCC;CDSS=3;DBRECUR=DCC 258 HGMD Variants: 258 chr18:50278709:C:A 4344_377_126_S->* 258 chr18:50450202:C:T 4344_823_275_R->* 258 chr18:50432528:A:G 4344_527_176_N->S 258 chr18:50432602:C:G 4344_601_201_R->G 258 chr18:50683873:G:A 4344_1409_470_G->D 258 chr18:50832036:G:A 4344_2000_667_R->H 258 chr18:50848468:A:G 4344_2105_702_N->S 258 chr18:50912460:G:A 4344_2407_803_G->R 258 oneKG Variants: 258 chr18:50705438:G:T 4344_1525_509_G->* 0.000199681 258 chr18:49867165:A:G 4344_8_3_N->S 0.000998403 258 chr18:49867176:T:C 4344_19_7_C->R 0.000199681 258 chr18:49867186:T:C 4344_29_10_V->A 0.000199681 258 chr18:49867224:T:C 4344_67_23_F->L 0.004193 258 chr18:49867231:C:A 4344_74_25_A->E 0.000199681 258 chr18:49867234:A:G 4344_77_26_H->R 0.000199681 258 chr18:50278480:G:A 4344_148_50_V->I 0.000599042 258 chr18:50278483:A:G 4344_151_51_T->A 0.000199681 258 chr18:50278519:G:A 4344_187_63_A->T 0.000199681 258 chr18:50278528:G:A 4344_196_66_D->N 0.000798722 258 chr18:50278614:T:G 4344_282_94_N->K 0.000199681 258 chr18:50432527:A:G 4344_526_176_N->D 0.000199681 258 chr18:50432545:C:G 4344_544_182_P->A 0.000199681 258 chr18:50432572:G:T 4344_571_191_V->F 0.000199681 258 chr18:50432600:G:A 4344_599_200_S->N 0.000199681 258 chr18:50432602:C:G 4344_601_201_R->G 0.477436 258 chr18:50432671:A:G 4344_670_224_N->D 0.000199681 258 chr18:50450088:C:T 4344_709_237_H->Y 0.00339457 258 chr18:50450151:G:C 4344_772_258_V->L 0.000199681 258 chr18:50450190:T:C 4344_811_271_F->L 0.000199681 258 chr18:50451641:C:G 4344_886_296_L->V 0.000199681 258 chr18:50451651:A:G 4344_896_299_N->S 0.000599042 258 chr18:50451659:G:A 4344_904_302_D->N 0.000199681 258 chr18:50451699:A:C 4344_944_315_K->T 0.00459265 258 chr18:50589744:G:T 4344_1055_352_C->F 0.000199681 258 chr18:50589783:T:C 4344_1094_365_M->T 0.000199681 258 chr18:50589787:G:C 4344_1098_366_K->N 0.000199681 258 chr18:50589810:G:A 4344_1121_374_S->N 0.000199681 258 chr18:50592425:A:C 4344_1150_384_N->H 0.000199681 258 chr18:50592432:G:A 4344_1157_386_R->Q 0.000199681 258 chr18:50592507:C:T 4344_1232_411_T->I 0.000199681 258 chr18:50592531:A:G 4344_1256_419_K->R 0.00139776 258 chr18:50683753:C:T 4344_1289_430_S->L 0.000199681 258 chr18:50683792:G:A 4344_1328_443_R->Q 0.000399361 258 chr18:50683800:C:T 4344_1336_446_R->C 0.000199681 258 chr18:50683801:G:A 4344_1337_446_R->H 0.000199681 258 chr18:50683844:A:C 4344_1380_460_Q->H 0.00199681 258 chr18:50683852:C:T 4344_1388_463_T->M 0.000998403 258 chr18:50683854:G:T 4344_1390_464_V->F 0.000199681 258 chr18:50683872:G:C 4344_1408_470_G->R 0.000199681 258 chr18:50683873:G:A 4344_1409_470_G->D 0.000798722 258 chr18:50705333:G:C 4344_1420_474_E->Q 0.000199681 258 chr18:50705336:C:G 4344_1423_475_R->G 0.000199681 258 chr18:50705361:G:C 4344_1448_483_G->A 0.000199681 258 chr18:50705370:A:T 4344_1457_486_Q->L 0.00299521 258 chr18:50705417:G:A 4344_1504_502_V->I 0.000199681 258 chr18:50705420:G:T 4344_1507_503_V->L 0.000199681 258 chr18:50731633:C:T 4344_1621_541_P->S 0.000199681 258 chr18:50734052:A:G 4344_1726_576_I->V 0.000399361 258 chr18:50734103:G:A 4344_1777_593_E->K 0.000199681 258 chr18:50734146:G:A 4344_1820_607_G->D 0.000199681 258 chr18:50734154:A:G 4344_1828_610_T->A 0.000199681 258 chr18:50741937:G:T 4344_1881_627_Q->H 0.000199681 258 chr18:50831955:A:C 4344_1919_640_K->T 0.000599042 258 chr18:50831969:C:T 4344_1933_645_P->S 0.000199681 258 chr18:50832024:G:A 4344_1988_663_R->K 0.000199681 258 chr18:50832030:C:T 4344_1994_665_T->M 0.000399361 258 chr18:50832036:G:A 4344_2000_667_R->H 0.00199681 258 chr18:50848468:A:G 4344_2105_702_N->S 0.00179712 258 chr18:50848477:G:A 4344_2114_705_G->E 0.000199681 258 chr18:50866195:T:G 4344_2277_759_I->M 0.00299521 258 chr18:50866233:T:C 4344_2315_772_V->A 0.000998403 258 chr18:50866236:G:A 4344_2318_773_R->H 0.00139776 258 chr18:50912508:G:A 4344_2455_819_D->N 0.000399361 258 chr18:50918027:C:G 4344_2458_820_P->A 0.000199681 258 chr18:50918042:G:T 4344_2473_825_D->Y 0.000199681 258 chr18:50918216:G:A 4344_2647_883_V->I 0.000199681 258 chr18:50923700:G:A 4344_2711_904_S->N 0.000199681 258 chr18:50923722:A:C 4344_2733_911_K->N 0.000199681 258 chr18:50929181:G:C 4344_2853_951_L->F 0.000199681 258 chr18:50929215:G:A 4344_2887_963_V->I 0.000399361 258 chr18:50929218:A:G 4344_2890_964_I->V 0.000798722 258 chr18:50936833:T:C 4344_2947_983_F->L 0.000199681 258 chr18:50936882:C:T 4344_2996_999_T->I 0.000199681 258 chr18:50936935:A:G 4344_3049_1017_M->V 0.04373 258 chr18:50936984:T:A 4344_3098_1033_L->H 0.000199681 258 chr18:50936995:A:G 4344_3109_1037_I->V 0.000199681 258 chr18:50942514:G:T 4344_3151_1051_A->S 0.000599042 258 chr18:50961517:G:A 4344_3167_1056_R->H 0.000199681 258 chr18:50961532:G:T 4344_3182_1061_G->V 0.000399361 258 chr18:50961568:G:A 4344_3218_1073_S->N 0.000199681 258 chr18:50976954:C:T 4344_3314_1105_T->I 0.000199681 258 chr18:50976956:G:A 4344_3316_1106_V->I 0.000199681 258 chr18:50977010:C:T 4344_3370_1124_R->C 0.000199681 258 chr18:50977011:G:A 4344_3371_1124_R->H 0.000599042 258 chr18:50985625:G:C 4344_3416_1139_G->A 0.000199681 258 chr18:50985637:G:A 4344_3428_1143_G->D 0.000599042 258 chr18:50985640:G:C 4344_3431_1144_S->T 0.000199681 258 chr18:50985657:C:G 4344_3448_1150_P->A 0.000199681 258 chr18:50985787:A:G 4344_3578_1193_Q->R 0.000798722 258 chr18:50985788:G:C 4344_3579_1193_Q->H 0.000199681 258 chr18:50985805:G:A 4344_3596_1199_G->E 0.000199681 258 chr18:50994272:A:C 4344_3628_1210_T->P 0.000399361 258 chr18:50994295:G:A 4344_3651_1217_M->I 0.000399361 258 chr18:51013271:C:T 4344_3841_1281_P->S 0.000199681 258 chr18:51013292:T:C 4344_3862_1288_S->P 0.000199681 258 chr18:51013296:T:C 4344_3866_1289_V->A 0.000199681 258 chr18:51025745:G:A 4344_3976_1326_A->T 0.000199681 258 chr18:51025796:C:T 4344_4027_1343_R->C 0.000399361 258 na12878 Variants: 258 chr18:49867224:T:C 4344_67_23_F->L 258 snyder Variants: 258 chr18:49867224:T:C 4344_67_23_F->L 259 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000105376_ENST00000221980 gene_Name: ICAM5_HUMAN 259 list of pdbs: 259 3BN3 pdb_description: 19-Aug-08 X-ray 2.100 Crystal structure of icam-5 in complex with al i domain 259 Zimmer Variants: 259 chr19:10402938:G:A 2775_901_301_V->I;GNEG=Yes;GENE=ICAM5;CDSS=3 259 chr19:10403368:G:A 2775_1042_348_A->T;GNEG=Yes;GENE=ICAM5;CDSS=2 259 HGMD Variants: 259 chr19:10403368:G:A 2775_1042_348_A->T 259 oneKG Variants: 259 chr19:10400754:T:C 2775_35_12_L->P 0.000199681 259 chr19:10400759:G:A 2775_40_14_G->S 0.000199681 259 chr19:10402254:G:C 2775_442_148_G->R 0.000199681 259 chr19:10402433:C:A 2775_621_207_H->Q 0.000199681 259 chr19:10402447:T:C 2775_635_212_F->S 0.000199681 259 chr19:10402720:C:T 2775_683_228_P->L 0.000798722 259 chr19:10402938:G:A 2775_901_301_V->I 0.289537 259 chr19:10402973:G:T 2775_936_312_E->D 0.000199681 259 chr19:10403300:C:T 2775_974_325_P->L 0.000199681 259 chr19:10403321:C:G 2775_995_332_P->R 0.000798722 259 chr19:10403359:G:A 2775_1033_345_A->T 0.00239617 259 chr19:10403368:G:A 2775_1042_348_A->T 0.289337 259 chr19:10403395:G:A 2775_1069_357_V->I 0.000199681 259 chr19:10403451:C:A 2775_1125_375_N->K 0.000199681 259 chr19:10403746:G:T 2775_1289_430_R->L 0.000199681 259 chr19:10403788:C:T 2775_1331_444_A->V 0.000399361 259 chr19:10403815:C:T 2775_1358_453_A->V 0.000399361 259 chr19:10403878:A:G 2775_1421_474_N->S 0.000399361 259 chr19:10404394:G:A 2775_1486_496_V->M 0.00119808 259 chr19:10404452:T:A 2775_1544_515_V->E 0.000199681 259 chr19:10404481:A:T 2775_1573_525_I->F 0.000199681 259 chr19:10404505:G:A 2775_1597_533_G->R 0.000199681 259 chr19:10404521:G:A 2775_1613_538_G->E 0.000199681 259 chr19:10404535:G:A 2775_1627_543_A->T 0.000199681 259 chr19:10404581:G:A 2775_1673_558_R->Q 0.000199681 259 chr19:10404778:C:G 2775_1774_592_R->G 0.000199681 259 chr19:10404779:G:A 2775_1775_592_R->H 0.000199681 259 chr19:10404907:C:T 2775_1903_635_P->S 0.000199681 259 chr19:10404986:G:A 2775_1982_661_S->N 0.000199681 259 chr19:10404987:C:A 2775_1983_661_S->R 0.000199681 259 chr19:10405122:G:C 2775_2036_679_W->S 0.000199681 259 chr19:10405157:G:A 2775_2071_691_A->T 0.000199681 259 chr19:10405205:A:C 2775_2119_707_I->L 0.000199681 259 chr19:10407141:C:T 2775_2624_875_A->V 0.000199681 259 na12878 Variants: 259 chr19:10402938:G:A 2775_901_301_V->I 259 chr19:10403368:G:A 2775_1042_348_A->T 259 snyder Variants: 259 chr19:10402938:G:A 2775_901_301_V->I 259 chr19:10403368:G:A 2775_1042_348_A->T 260 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167601_ENST00000301178 gene_Name: UFO_HUMAN 260 list of pdbs: 260 2C5D pdb_description: 19-Dec-05 X-ray 3.300 Structure of a minimal gas6-axl complex 260 Zimmer Variants: 260 chr19:41743861:A:G 2685_796_266_N->D 260 HGMD Variants: 260 chr19:41736890:C:G 2685_605_202_S->C 260 chr19:41744462:A:C 2685_1082_361_Q->P 260 chr19:41758804:T:G 2685_1858_620_L->V 260 oneKG Variants: 260 chr19:41725302:C:T 2685_5_2_A->V 0.000199681 260 chr19:41725307:C:A,T 2685_10_4_R->W 0.000399361 260 chr19:41725332:C:T 2685_35_12_P->L 0.000399361 260 chr19:41725350:C:T 2685_53_18_A->V 0.00199681 260 chr19:41726598:G:A 2685_143_48_R->Q 0.000199681 260 chr19:41726607:C:T 2685_152_51_T->M 0.000199681 260 chr19:41726644:G:C 2685_189_63_E->D 0.000399361 260 chr19:41727067:C:T 2685_325_109_L->F 0.000199681 260 chr19:41727820:A:G 2685_445_149_T->A 0.000798722 260 chr19:41727824:T:C 2685_449_150_V->A 0.000199681 260 chr19:41727829:G:A 2685_454_152_A->T 0.000199681 260 chr19:41727911:C:T 2685_536_179_P->L 0.000199681 260 chr19:41727916:G:T 2685_541_181_A->S 0.000199681 260 chr19:41727955:G:A 2685_580_194_V->I 0.000798722 260 chr19:41736901:G:A 2685_616_206_E->K 0.000199681 260 chr19:41736905:C:G 2685_620_207_A->G 0.000199681 260 chr19:41737105:C:T 2685_685_229_R->C 0.000798722 260 chr19:41743849:G:A 2685_784_262_A->T 0.000199681 260 chr19:41743861:A:G 2685_796_266_N->D 0.0 260 chr19:41743906:G:C 2685_841_281_E->Q 0.000199681 260 chr19:41743910:C:T 2685_845_282_P->L 0.000599042 260 chr19:41743919:C:T 2685_854_285_S->L 0.000199681 260 chr19:41743949:G:A 2685_884_295_R->Q 0.000199681 260 chr19:41743966:C:T 2685_901_301_P->S 0.000199681 260 chr19:41744003:G:A 2685_938_313_S->N 0.000199681 260 chr19:41744032:T:A 2685_967_323_W->R 0.000199681 260 chr19:41744462:A:C 2685_1082_361_Q->P 0.000599042 260 chr19:41745076:T:G 2685_1142_381_M->R 0.000399361 260 chr19:41745123:G:A 2685_1189_397_G->R 0.000998403 260 chr19:41745172:G:C 2685_1238_413_G->A 0.000199681 260 chr19:41745608:A:C 2685_1295_432_Q->P 0.000199681 260 chr19:41748818:G:T 2685_1343_448_W->L 0.00219649 260 chr19:41748850:G:A 2685_1375_459_V->M 0.000399361 260 chr19:41748895:C:T 2685_1420_474_R->W 0.000199681 260 chr19:41749529:T:C 2685_1454_485_F->S 0.000199681 260 chr19:41754430:G:A 2685_1549_517_G->S 0.00219649 260 chr19:41754449:A:T 2685_1568_523_K->M 0.000399361 260 chr19:41758268:C:T 2685_1724_575_T->M 0.000199681 260 chr19:41758333:G:A 2685_1789_597_V->I 0.000199681 260 chr19:41759510:C:T 2685_1933_645_P->S 0.000199681 260 chr19:41759514:C:T 2685_1937_646_T->I 0.000399361 260 chr19:41762366:G:T 2685_2046_682_E->D 0.000199681 260 chr19:41763471:A:G 2685_2270_757_E->G 0.000199681 260 chr19:41763489:G:A 2685_2288_763_R->H 0.000798722 260 chr19:41763501:G:A 2685_2300_767_R->H 0.000199681 260 chr19:41763512:C:A 2685_2311_771_P->T 0.000199681 260 chr19:41765538:A:C 2685_2414_805_N->T 0.00139776 260 chr19:41765601:A:C 2685_2477_826_E->A 0.000199681 260 chr19:41765750:C:A 2685_2626_876_P->T 0.000199681 260 chr19:41765762:G:A 2685_2638_880_A->T 0.000199681 260 chr19:41765795:G:C 2685_2671_891_E->Q 0.000199681 260 chr19:41765799:A:C 2685_2675_892_D->A 0.000199681 260 na12878 Variants: 260 chr19:41743861:A:G 2685_796_266_N->D 260 snyder Variants: 260 chr19:41743861:A:G 2685_796_266_N->D 261 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167601_ENST00000359092 gene_Name: UFO_HUMAN 261 list of pdbs: 261 2C5D pdb_description: 19-Dec-05 X-ray 3.300 Structure of a minimal gas6-axl complex 261 Zimmer Variants: 261 chr19:41743861:A:G 2658_796_266_N->D;GNEG=Yes;GENE=AXL;CDSS=3 261 HGMD Variants: 261 chr19:41736890:C:G 2658_605_202_S->C 261 chr19:41744462:A:C 2658_1082_361_Q->P 261 chr19:41758804:T:G 2658_1831_611_L->V 261 oneKG Variants: 261 chr19:41725302:C:T 2658_5_2_A->V 0.000199681 261 chr19:41725307:C:A,T 2658_10_4_R->W 0.000399361 261 chr19:41725332:C:T 2658_35_12_P->L 0.000399361 261 chr19:41725350:C:T 2658_53_18_A->V 0.00199681 261 chr19:41726598:G:A 2658_143_48_R->Q 0.000199681 261 chr19:41726607:C:T 2658_152_51_T->M 0.000199681 261 chr19:41726644:G:C 2658_189_63_E->D 0.000399361 261 chr19:41727067:C:T 2658_325_109_L->F 0.000199681 261 chr19:41727820:A:G 2658_445_149_T->A 0.000798722 261 chr19:41727824:T:C 2658_449_150_V->A 0.000199681 261 chr19:41727829:G:A 2658_454_152_A->T 0.000199681 261 chr19:41727911:C:T 2658_536_179_P->L 0.000199681 261 chr19:41727916:G:T 2658_541_181_A->S 0.000199681 261 chr19:41727955:G:A 2658_580_194_V->I 0.000798722 261 chr19:41736901:G:A 2658_616_206_E->K 0.000199681 261 chr19:41736905:C:G 2658_620_207_A->G 0.000199681 261 chr19:41737105:C:T 2658_685_229_R->C 0.000798722 261 chr19:41743849:G:A 2658_784_262_A->T 0.000199681 261 chr19:41743861:A:G 2658_796_266_N->D 0.0 261 chr19:41743906:G:C 2658_841_281_E->Q 0.000199681 261 chr19:41743910:C:T 2658_845_282_P->L 0.000599042 261 chr19:41743919:C:T 2658_854_285_S->L 0.000199681 261 chr19:41743949:G:A 2658_884_295_R->Q 0.000199681 261 chr19:41743966:C:T 2658_901_301_P->S 0.000199681 261 chr19:41744003:G:A 2658_938_313_S->N 0.000199681 261 chr19:41744032:T:A 2658_967_323_W->R 0.000199681 261 chr19:41744462:A:C 2658_1082_361_Q->P 0.000599042 261 chr19:41745076:T:G 2658_1142_381_M->R 0.000399361 261 chr19:41745123:G:A 2658_1189_397_G->R 0.000998403 261 chr19:41745172:G:C 2658_1238_413_G->A 0.000199681 261 chr19:41748818:G:T 2658_1316_439_W->L 0.00219649 261 chr19:41748850:G:A 2658_1348_450_V->M 0.000399361 261 chr19:41748895:C:T 2658_1393_465_R->W 0.000199681 261 chr19:41749529:T:C 2658_1427_476_F->S 0.000199681 261 chr19:41754430:G:A 2658_1522_508_G->S 0.00219649 261 chr19:41754449:A:T 2658_1541_514_K->M 0.000399361 261 chr19:41758268:C:T 2658_1697_566_T->M 0.000199681 261 chr19:41758333:G:A 2658_1762_588_V->I 0.000199681 261 chr19:41759510:C:T 2658_1906_636_P->S 0.000199681 261 chr19:41759514:C:T 2658_1910_637_T->I 0.000399361 261 chr19:41762366:G:T 2658_2019_673_E->D 0.000199681 261 chr19:41763471:A:G 2658_2243_748_E->G 0.000199681 261 chr19:41763489:G:A 2658_2261_754_R->H 0.000798722 261 chr19:41763501:G:A 2658_2273_758_R->H 0.000199681 261 chr19:41763512:C:A 2658_2284_762_P->T 0.000199681 261 chr19:41765538:A:C 2658_2387_796_N->T 0.00139776 261 chr19:41765601:A:C 2658_2450_817_E->A 0.000199681 261 chr19:41765750:C:A 2658_2599_867_P->T 0.000199681 261 chr19:41765762:G:A 2658_2611_871_A->T 0.000199681 261 chr19:41765795:G:C 2658_2644_882_E->Q 0.000199681 261 chr19:41765799:A:C 2658_2648_883_D->A 0.000199681 261 na12878 Variants: 261 chr19:41743861:A:G 2658_796_266_N->D 261 snyder Variants: 261 chr19:41743861:A:G 2658_796_266_N->D 262 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000011422_ENST00000339082 gene_Name: UPAR_HUMAN 262 list of pdbs: 262 3U74 pdb_description: 18-Apr-12 X-ray 2.390 Crystal structure of stabilized human upar mutant 262 3U73 pdb_description: 18-Apr-12 X-ray 3.190 Crystal structure of stabilized human upar mutant in complex 262 3BT2 pdb_description: 25-Mar-08 X-ray 2.500 Structure of urokinase receptor, urokinase and vitronectin c 262 3BT1 pdb_description: 25-Mar-08 X-ray 2.800 Structure of urokinase receptor, urokinase and vitronectin c 262 2I9B pdb_description: 02-Jan-07 X-ray 2.800 Crystal structure of atf-urokinase receptor complex 262 2FD6 pdb_description: 21-Feb-06 X-ray 1.900 Structure of human urokinase plasminogen activator in comple urokinase receptor and an anti-upar antibody at 1.9 a 262 1YWH pdb_description: 10-May-05 X-ray 2.700 Crystal structure of urokinase plasminogen activator recepto 262 Zimmer Variants: 262 chr19:44156472:T:C 846_659_220_K->R 262 HGMD Variants: 262 chr19:44156472:T:C 846_659_220_K->R 262 oneKG Variants: 262 chr19:44150615:A:T 846_840_280_H->Q 0.000199681 262 chr19:44150673:G:A 846_782_261_P->L 0.000199681 262 chr19:44156470:C:T 846_661_221_G->R 0.00419329 262 chr19:44156472:T:C 846_659_220_K->R 0.165136 262 chr19:44156487:T:A 846_644_215_Q->L 0.000199681 262 chr19:44156502:G:A 846_629_210_P->L 0.000798722 262 chr19:44159662:T:C 846_536_179_N->S 0.000399361 262 chr19:44159722:C:T 846_476_159_R->H 0.000798722 262 chr19:44160729:A:T 846_374_125_M->K 0.000199681 262 chr19:44160766:G:A 846_337_113_R->C 0.000399361 262 chr19:44160789:C:T 846_314_105_R->Q 0.000599042 262 chr19:44169507:C:G 846_271_91_V->L 0.000199681 262 chr19:44169510:C:T 846_268_90_E->K 0.000199681 262 chr19:44169522:T:C 846_256_86_T->A 0.0415335 262 chr19:44169529:C:A 846_249_83_L->F 0.126797 262 chr19:44171775:C:T 846_124_42_G->R 0.000199681 262 na12878 Variants: 262 chr19:44156472:T:C 846_659_220_K->R 262 snyder Variants: 262 chr19:44156472:T:C 846_659_220_K->R 263 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000011422_ENST00000340093 gene_Name: UPAR_HUMAN 263 list of pdbs: 263 3U74 pdb_description: 18-Apr-12 X-ray 2.390 Crystal structure of stabilized human upar mutant 263 3U73 pdb_description: 18-Apr-12 X-ray 3.190 Crystal structure of stabilized human upar mutant in complex 263 3BT2 pdb_description: 25-Mar-08 X-ray 2.500 Structure of urokinase receptor, urokinase and vitronectin c 263 3BT1 pdb_description: 25-Mar-08 X-ray 2.800 Structure of urokinase receptor, urokinase and vitronectin c 263 2I9B pdb_description: 02-Jan-07 X-ray 2.800 Crystal structure of atf-urokinase receptor complex 263 2FD6 pdb_description: 21-Feb-06 X-ray 1.900 Structure of human urokinase plasminogen activator in comple urokinase receptor and an anti-upar antibody at 1.9 a 263 1YWH pdb_description: 10-May-05 X-ray 2.700 Crystal structure of urokinase plasminogen activator recepto 263 Zimmer Variants: 263 chr19:44156472:T:C 1008_659_220_K->R;HUB=PPI;GENE=PLAUR;CDSS=3 263 HGMD Variants: 263 chr19:44156472:T:C 1008_659_220_K->R 263 oneKG Variants: 263 chr19:44153100:A:G 1008_950_317_L->P 0.0684904 263 chr19:44153172:C:T 1008_878_293_C->Y 0.000199681 263 chr19:44153207:G:T 1008_843_281_N->K 0.00319489 263 chr19:44153248:T:C 1008_802_268_M->V 0.00299521 263 chr19:44156470:C:T 1008_661_221_G->R 0.00419329 263 chr19:44156472:T:C 1008_659_220_K->R 0.165136 263 chr19:44156487:T:A 1008_644_215_Q->L 0.000199681 263 chr19:44156502:G:A 1008_629_210_P->L 0.000798722 263 chr19:44159662:T:C 1008_536_179_N->S 0.000399361 263 chr19:44159722:C:T 1008_476_159_R->H 0.000798722 263 chr19:44160729:A:T 1008_374_125_M->K 0.000199681 263 chr19:44160766:G:A 1008_337_113_R->C 0.000399361 263 chr19:44160789:C:T 1008_314_105_R->Q 0.000599042 263 chr19:44169507:C:G 1008_271_91_V->L 0.000199681 263 chr19:44169510:C:T 1008_268_90_E->K 0.000199681 263 chr19:44169522:T:C 1008_256_86_T->A 0.0415335 263 chr19:44169529:C:A 1008_249_83_L->F 0.126797 263 chr19:44171775:C:T 1008_124_42_G->R 0.000199681 263 na12878 Variants: 263 chr19:44156472:T:C 1008_659_220_K->R 263 snyder Variants: 263 chr19:44156472:T:C 1008_659_220_K->R 264 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000011422_ENST00000221264 gene_Name: UPAR_HUMAN 264 list of pdbs: 264 3U74 pdb_description: 18-Apr-12 X-ray 2.390 Crystal structure of stabilized human upar mutant 264 3U73 pdb_description: 18-Apr-12 X-ray 3.190 Crystal structure of stabilized human upar mutant in complex 264 3BT2 pdb_description: 25-Mar-08 X-ray 2.500 Structure of urokinase receptor, urokinase and vitronectin c 264 3BT1 pdb_description: 25-Mar-08 X-ray 2.800 Structure of urokinase receptor, urokinase and vitronectin c 264 2I9B pdb_description: 02-Jan-07 X-ray 2.800 Crystal structure of atf-urokinase receptor complex 264 2FD6 pdb_description: 21-Feb-06 X-ray 1.900 Structure of human urokinase plasminogen activator in comple urokinase receptor and an anti-upar antibody at 1.9 a 264 1YWH pdb_description: 10-May-05 X-ray 2.700 Crystal structure of urokinase plasminogen activator recepto 264 Zimmer Variants: 264 chr19:44156472:T:C 873_524_175_K->R 264 HGMD Variants: 264 chr19:44156472:T:C 873_524_175_K->R 264 oneKG Variants: 264 chr19:44153100:A:G 873_815_272_L->P 0.0684904 264 chr19:44153172:C:T 873_743_248_C->Y 0.000199681 264 chr19:44153207:G:T 873_708_236_N->K 0.00319489 264 chr19:44153248:T:C 873_667_223_M->V 0.00299521 264 chr19:44156470:C:T 873_526_176_G->R 0.00419329 264 chr19:44156472:T:C 873_524_175_K->R 0.165136 264 chr19:44156487:T:A 873_509_170_Q->L 0.000199681 264 chr19:44156502:G:A 873_494_165_P->L 0.000798722 264 chr19:44160729:A:T 873_374_125_M->K 0.000199681 264 chr19:44160766:G:A 873_337_113_R->C 0.000399361 264 chr19:44160789:C:T 873_314_105_R->Q 0.000599042 264 chr19:44169507:C:G 873_271_91_V->L 0.000199681 264 chr19:44169510:C:T 873_268_90_E->K 0.000199681 264 chr19:44169522:T:C 873_256_86_T->A 0.0415335 264 chr19:44169529:C:A 873_249_83_L->F 0.126797 264 chr19:44171775:C:T 873_124_42_G->R 0.000199681 264 na12878 Variants: 264 chr19:44156472:T:C 873_524_175_K->R 264 snyder Variants: 264 chr19:44156472:T:C 873_524_175_K->R 265 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000088053_ENST00000417454 gene_Name: GPVI_HUMAN 265 list of pdbs: 265 2GI7 pdb_description: 03-Apr-07 X-ray 2.400 Crystal structure of human platelet glycoprotein vi (gpvi) 265 Zimmer Variants: 265 chr19:55526345:T:G 1020_964_322_N->H;HUB=REG;GENE=GP6;CDSS=3 265 chr19:55526359:A:T 1020_950_317_L->Q,1 265 chr19:55527081:C:T 1020_745_249_A->T;HUB=REG;GENE=GP6;CDSS=2 265 chr19:55530035:C:T 1020_709_237_E->K;HUB=REG;GENE=GP6;CDSS=2 265 chr19:55536595:G:A 1020_655_219_P->S;HUB=REG;GENE=GP6;CDSS=2 265 HGMD Variants: 265 chr19:55536595:G:A 1020_655_219_P->S 265 chr19:55539032:C:T 1020_524_175_S->N 265 chr19:55543660:G:A 1020_172_58_R->C 265 oneKG Variants: 265 chr19:55538989:G:T 1020_567_189_Y->* 0.000199681 265 chr19:55526306:G:A 1020_1003_335_R->C 0.000399361 265 chr19:55526342:C:T 1020_967_323_G->R 0.00798722 265 chr19:55526345:T:G 1020_964_322_N->H 0.176917 265 chr19:55526359:A:T 1020_950_317_L->Q,1 0.27516 265 chr19:55526371:G:A 1020_938_313_P->L,1 0.000798722 265 chr19:55526380:G:A 1020_929_310_P->L,1 0.000199681 265 chr19:55526414:G:A 1020_895_299_R->W 0.000199681 265 chr19:55526428:C:T 1020_881_294_R->Q,1 0.000798722 265 chr19:55526525:G:A 1020_784_262_R->C 0.000599042 265 chr19:55526528:C:A 1020_781_261_A->S 0.000599042 265 chr19:55526531:G:C 1020_778_260_P->A 0.000399361 265 chr19:55527078:T:G 1020_748_250_S->R 0.000798722 265 chr19:55527081:C:T 1020_745_249_A->T 0.286542 265 chr19:55530035:C:T 1020_709_237_E->K 0.25639 265 chr19:55536595:G:A 1020_655_219_P->S 0.157348 265 chr19:55536607:C:T 1020_643_215_E->K 0.000199681 265 chr19:55539001:G:C 1020_555_185_S->R 0.000199681 265 chr19:55539151:C:A 1020_405_135_Q->H 0.000199681 265 chr19:55539171:C:A 1020_385_129_D->Y 0.000199681 265 chr19:55539230:C:G 1020_326_109_G->A 0.000199681 265 chr19:55543525:G:C 1020_307_103_L->V 0.00119808 265 chr19:55543531:C:T 1020_301_101_D->N 0.000199681 265 chr19:55543659:C:A 1020_173_58_R->L 0.000199681 265 chr19:55543660:G:A 1020_172_58_R->C 0.000399361 265 chr19:55543728:C:G 1020_104_35_S->T 0.000199681 265 chr19:55549586:C:T 1020_19_7_A->T 0.000199681 265 na12878 Variants: 265 chr19:55526345:T:G 1020_964_322_N->H 265 chr19:55526359:A:T 1020_950_317_L->Q,1 265 chr19:55527081:C:T 1020_745_249_A->T 265 chr19:55530035:C:T 1020_709_237_E->K 265 chr19:55536595:G:A 1020_655_219_P->S 265 snyder Variants: 265 chr19:55526345:T:G 1020_964_322_N->H 265 chr19:55526359:A:T 1020_950_317_L->Q,1 265 chr19:55527081:C:T 1020_745_249_A->T 265 chr19:55530035:C:T 1020_709_237_E->K 265 chr19:55536595:G:A 1020_655_219_P->S 266 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000088053_ENST00000310373 gene_Name: GPVI_HUMAN 266 list of pdbs: 266 2GI7 pdb_description: 03-Apr-07 X-ray 2.400 Crystal structure of human platelet glycoprotein vi (gpvi) 266 Zimmer Variants: 266 chr19:55526345:T:G 1863_968_323_K->T 266 chr19:55525497:A:G 1863_1816_606_F->L;HUB=REG;GENE=GP6;CDSS=2 266 chr19:55525596:T:C 1863_1717_573_R->G;HUB=REG;GENE=GP6;CDSS=2 266 chr19:55527081:C:T 1863_745_249_A->T 266 chr19:55530035:C:T 1863_709_237_E->K 266 chr19:55536595:G:A 1863_655_219_P->S 266 HGMD Variants: 266 chr19:55536595:G:A 1863_655_219_P->S 266 chr19:55539032:C:T 1863_524_175_S->N 266 chr19:55543660:G:A 1863_172_58_R->C 266 oneKG Variants: 266 chr19:55526026:C:T 1863_1287_429_W->* 0.0129792 266 chr19:55538989:G:T 1863_567_189_Y->* 0.000199681 266 chr19:55525493:A:G 1863_1820_607_V->A 0.000399361 266 chr19:55525497:A:G 1863_1816_606_F->L 0.273363 266 chr19:55525508:G:A 1863_1805_602_T->M 0.0625 266 chr19:55525524:T:G 1863_1789_597_T->P 0.0109824 266 chr19:55525548:T:C 1863_1765_589_S->G 0.000798722 266 chr19:55525586:C:T 1863_1727_576_R->K 0.076278 266 chr19:55525596:T:C 1863_1717_573_R->G 0.283347 266 chr19:55525763:A:C 1863_1550_517_M->R 0.000798722 266 chr19:55525782:G:C 1863_1531_511_L->V 0.000199681 266 chr19:55525788:T:C 1863_1525_509_T->A 0.000399361 266 chr19:55525818:C:T 1863_1495_499_G->S 0.0127796 266 chr19:55525854:G:A 1863_1459_487_P->S 0.00379393 266 chr19:55525964:G:A 1863_1349_450_A->V 0.000199681 266 chr19:55526000:G:C 1863_1313_438_T->R 0.000199681 266 chr19:55526064:T:G 1863_1249_417_N->H 0.000199681 266 chr19:55526069:C:G 1863_1244_415_G->A 0.000798722 266 chr19:55526122:C:G 1863_1191_397_Q->H 0.000399361 266 chr19:55526171:C:T 1863_1142_381_R->Q 0.000199681 266 chr19:55526219:C:T 1863_1094_365_R->H 0.000199681 266 chr19:55526267:G:A 1863_1046_349_S->L 0.000199681 266 chr19:55526270:C:T 1863_1043_348_R->Q 0.00119808 266 chr19:55526274:C:T 1863_1039_347_A->T 0.000199681 266 chr19:55526290:C:T 1863_1023_341_M->I,1 0.000199681 266 chr19:55526306:G:A 1863_1007_336_P->L 0.000399361 266 chr19:55526319:C:T 1863_994_332_G->R,1 0.000199681 266 chr19:55526340:C:G 1863_973_325_G->R,1 0.00219649 266 chr19:55526342:C:T 1863_971_324_R->Q 0.00798722 266 chr19:55526345:T:G 1863_968_323_K->T 0.176917 266 chr19:55526373:G:C 1863_940_314_P->A,1 0.384585 266 chr19:55526388:C:T 1863_925_309_A->T,1 0.000199681 266 chr19:55526414:G:A 1863_899_300_A->V 0.000199681 266 chr19:55526466:T:A 1863_847_283_N->Y,1 0.000399361 266 chr19:55526481:C:T 1863_832_278_G->S,1 0.00339457 266 chr19:55526484:G:A 1863_829_277_R->W,1 0.000199681 266 chr19:55526525:G:A 1863_788_263_P->L 0.000599042 266 chr19:55526528:C:A 1863_785_262_C->F 0.000599042 266 chr19:55526531:G:C 1863_782_261_S->C 0.000399361 266 chr19:55527078:T:G 1863_748_250_S->R 0.000798722 266 chr19:55527081:C:T 1863_745_249_A->T 0.286542 266 chr19:55530035:C:T 1863_709_237_E->K 0.25639 266 chr19:55536595:G:A 1863_655_219_P->S 0.157348 266 chr19:55536607:C:T 1863_643_215_E->K 0.000199681 266 chr19:55539001:G:C 1863_555_185_S->R 0.000199681 266 chr19:55539151:C:A 1863_405_135_Q->H 0.000199681 266 chr19:55539171:C:A 1863_385_129_D->Y 0.000199681 266 chr19:55539230:C:G 1863_326_109_G->A 0.000199681 266 chr19:55543525:G:C 1863_307_103_L->V 0.00119808 266 chr19:55543531:C:T 1863_301_101_D->N 0.000199681 266 chr19:55543659:C:A 1863_173_58_R->L 0.000199681 266 chr19:55543660:G:A 1863_172_58_R->C 0.000399361 266 chr19:55543728:C:G 1863_104_35_S->T 0.000199681 266 chr19:55549586:C:T 1863_19_7_A->T 0.000199681 266 na12878 Variants: 266 chr19:55526345:T:G 1863_968_323_K->T 266 chr19:55526373:G:C 1863_940_314_P->A,1 266 chr19:55525586:C:T 1863_1727_576_R->K 266 chr19:55525596:T:C 1863_1717_573_R->G 266 chr19:55527081:C:T 1863_745_249_A->T 266 chr19:55530035:C:T 1863_709_237_E->K 266 chr19:55536595:G:A 1863_655_219_P->S 266 snyder Variants: 266 chr19:55526345:T:G 1863_968_323_K->T 266 chr19:55526373:G:C 1863_940_314_P->A,1 266 chr19:55525497:A:G 1863_1816_606_F->L 266 chr19:55525596:T:C 1863_1717_573_R->G 266 chr19:55527081:C:T 1863_745_249_A->T 266 chr19:55530035:C:T 1863_709_237_E->K 266 chr19:55536595:G:A 1863_655_219_P->S 267 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000088053_ENST00000333884 gene_Name: GPVI_HUMAN 267 list of pdbs: 267 2GI7 pdb_description: 03-Apr-07 X-ray 2.400 Crystal structure of human platelet glycoprotein vi (gpvi) 267 Zimmer Variants: 267 chr19:55526345:T:G 966_910_304_N->H 267 chr19:55526359:A:T 966_896_299_L->Q 267 chr19:55527081:C:T 966_691_231_A->T 267 chr19:55530035:C:T 966_655_219_E->K 267 HGMD Variants: 267 chr19:55539032:C:T 966_524_175_S->N 267 chr19:55543660:G:A 966_172_58_R->C 267 oneKG Variants: 267 chr19:55538989:G:T 966_567_189_Y->* 0.000199681 267 chr19:55526306:G:A 966_949_317_R->C 0.000399361 267 chr19:55526342:C:T 966_913_305_G->R 0.00798722 267 chr19:55526345:T:G 966_910_304_N->H 0.176917 267 chr19:55526359:A:T 966_896_299_L->Q 0.27516 267 chr19:55526371:G:A 966_884_295_P->L 0.000798722 267 chr19:55526380:G:A 966_875_292_P->L 0.000199681 267 chr19:55526414:G:A 966_841_281_R->W 0.000199681 267 chr19:55526428:C:T 966_827_276_R->Q 0.000798722 267 chr19:55526525:G:A 966_730_244_R->C 0.000599042 267 chr19:55526528:C:A 966_727_243_A->S 0.000599042 267 chr19:55526531:G:C 966_724_242_P->A 0.000399361 267 chr19:55527078:T:G 966_694_232_S->R 0.000798722 267 chr19:55527081:C:T 966_691_231_A->T 0.286542 267 chr19:55530035:C:T 966_655_219_E->K 0.25639 267 chr19:55539001:G:C 966_555_185_S->R 0.000199681 267 chr19:55539151:C:A 966_405_135_Q->H 0.000199681 267 chr19:55539171:C:A 966_385_129_D->Y 0.000199681 267 chr19:55539230:C:G 966_326_109_G->A 0.000199681 267 chr19:55543525:G:C 966_307_103_L->V 0.00119808 267 chr19:55543531:C:T 966_301_101_D->N 0.000199681 267 chr19:55543659:C:A 966_173_58_R->L 0.000199681 267 chr19:55543660:G:A 966_172_58_R->C 0.000399361 267 chr19:55543728:C:G 966_104_35_S->T 0.000199681 267 chr19:55549586:C:T 966_19_7_A->T 0.000199681 267 na12878 Variants: 267 chr19:55526345:T:G 966_910_304_N->H 267 chr19:55526359:A:T 966_896_299_L->Q 267 chr19:55527081:C:T 966_691_231_A->T 267 chr19:55530035:C:T 966_655_219_E->K 267 snyder Variants: 267 chr19:55526345:T:G 966_910_304_N->H 267 chr19:55526359:A:T 966_896_299_L->Q 267 chr19:55527081:C:T 966_691_231_A->T 267 chr19:55530035:C:T 966_655_219_E->K 268 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125735_ENST00000245912 gene_Name: TNF14_HUMAN 268 list of pdbs: 268 4KGQ pdb_description: 10-Jul-13 X-ray 2.270 Crystal structure of a human light loop mutant in complex wi 268 4KGG pdb_description: 07-Aug-13 X-ray 2.780 Crystal structure of light mutant2 and dcr3 complex 268 4KG8 pdb_description: 07-Aug-13 X-ray 2.250 Crystal structure of light mutant 268 4J6G pdb_description: 13-Mar-13 X-ray 2.400 Crystal structure of light and dcr3 complex 268 4EN0 pdb_description: 09-May-12 X-ray 2.590 Crystal structure of light 268 Zimmer Variants: 268 chr19:6665020:T:C 615_532_178_K->E 268 HGMD Variants: 268 chr19:6665020:T:C 615_532_178_K->E 268 chr19:6669986:G:A 615_95_32_S->L 268 oneKG Variants: 268 chr19:6670035:G:A 615_46_16_Q->* 0.000199681 268 chr19:6664965:C:T 615_587_196_R->Q 0.000199681 268 chr19:6665007:C:T 615_545_182_R->H 0.000199681 268 chr19:6665011:C:T 615_541_181_V->I 0.000199681 268 chr19:6665020:T:C 615_532_178_K->E 0.040335 268 chr19:6665076:C:T 615_476_159_R->Q 0.000199681 268 chr19:6665095:G:A 615_457_153_R->W 0.000199681 268 chr19:6665176:T:C 615_376_126_I->V 0.000199681 268 chr19:6665328:G:A 615_224_75_P->L 0.000199681 268 chr19:6665331:C:T 615_221_74_G->E 0.000199681 268 chr19:6665341:C:T 615_211_71_G->S 0.000199681 268 chr19:6667148:C:T 615_166_56_V->I 0.000199681 268 chr19:6667151:C:T 615_163_55_E->K 0.000798722 268 chr19:6667450:G:A 615_122_41_A->V 0.000399361 268 chr19:6669986:G:A 615_95_32_S->L 0.00159744 268 chr19:6670004:C:T 615_77_26_R->Q 0.000199681 268 chr19:6670017:T:C 615_64_22_T->A 0.000199681 268 chr19:6670065:C:T 615_16_6_V->I 0.000199681 268 chr19:6670070:C:A 615_11_4_S->I 0.000199681 268 na12878 Variants: 268 chr19:6665020:T:C 615_532_178_K->E 268 snyder Variants: 268 chr19:6665020:T:C 615_532_178_K->E 269 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125735_ENST00000326176 gene_Name: TNF14_HUMAN 269 list of pdbs: 269 4KGQ pdb_description: 10-Jul-13 X-ray 2.270 Crystal structure of a human light loop mutant in complex wi 269 4KGG pdb_description: 07-Aug-13 X-ray 2.780 Crystal structure of light mutant2 and dcr3 complex 269 4KG8 pdb_description: 07-Aug-13 X-ray 2.250 Crystal structure of light mutant 269 4J6G pdb_description: 13-Mar-13 X-ray 2.400 Crystal structure of light and dcr3 complex 269 4EN0 pdb_description: 09-May-12 X-ray 2.590 Crystal structure of light 269 Zimmer Variants: 269 chr19:6665020:T:C 615_532_178_K->E 269 HGMD Variants: 269 chr19:6665020:T:C 615_532_178_K->E 269 chr19:6669986:G:A 615_95_32_S->L 269 oneKG Variants: 269 chr19:6670035:G:A 615_46_16_Q->* 0.000199681 269 chr19:6664965:C:T 615_587_196_R->Q 0.000199681 269 chr19:6665007:C:T 615_545_182_R->H 0.000199681 269 chr19:6665011:C:T 615_541_181_V->I 0.000199681 269 chr19:6665020:T:C 615_532_178_K->E 0.040335 269 chr19:6665076:C:T 615_476_159_R->Q 0.000199681 269 chr19:6665095:G:A 615_457_153_R->W 0.000199681 269 chr19:6665176:T:C 615_376_126_I->V 0.000199681 269 chr19:6665328:G:A 615_224_75_P->L 0.000199681 269 chr19:6665331:C:T 615_221_74_G->E 0.000199681 269 chr19:6665341:C:T 615_211_71_G->S 0.000199681 269 chr19:6667148:C:T 615_166_56_V->I 0.000199681 269 chr19:6667151:C:T 615_163_55_E->K 0.000798722 269 chr19:6667450:G:A 615_122_41_A->V 0.000399361 269 chr19:6669986:G:A 615_95_32_S->L 0.00159744 269 chr19:6670004:C:T 615_77_26_R->Q 0.000199681 269 chr19:6670017:T:C 615_64_22_T->A 0.000199681 269 chr19:6670065:C:T 615_16_6_V->I 0.000199681 269 chr19:6670070:C:A 615_11_4_S->I 0.000199681 269 na12878 Variants: 269 chr19:6665020:T:C 615_532_178_K->E 269 snyder Variants: 269 chr19:6665020:T:C 615_532_178_K->E 270 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125735_ENST00000599359 gene_Name: TNF14_HUMAN 270 list of pdbs: 270 4KGQ pdb_description: 10-Jul-13 X-ray 2.270 Crystal structure of a human light loop mutant in complex wi 270 4KGG pdb_description: 07-Aug-13 X-ray 2.780 Crystal structure of light mutant2 and dcr3 complex 270 4KG8 pdb_description: 07-Aug-13 X-ray 2.250 Crystal structure of light mutant 270 4J6G pdb_description: 13-Mar-13 X-ray 2.400 Crystal structure of light and dcr3 complex 270 4EN0 pdb_description: 09-May-12 X-ray 2.590 Crystal structure of light 270 Zimmer Variants: 270 chr19:6665020:T:C 723_640_214_K->E;GNEG=Yes;GENE=TNFSF14;CDSS=3 270 HGMD Variants: 270 chr19:6665020:T:C 723_640_214_K->E 270 chr19:6669986:G:A 723_95_32_S->L 270 oneKG Variants: 270 chr19:6670035:G:A 723_46_16_Q->* 0.000199681 270 chr19:6664965:C:T 723_695_232_R->Q 0.000199681 270 chr19:6665007:C:T 723_653_218_R->H 0.000199681 270 chr19:6665011:C:T 723_649_217_V->I 0.000199681 270 chr19:6665020:T:C 723_640_214_K->E 0.040335 270 chr19:6665076:C:T 723_584_195_R->Q 0.000199681 270 chr19:6665095:G:A 723_565_189_R->W 0.000199681 270 chr19:6665176:T:C 723_484_162_I->V 0.000199681 270 chr19:6665328:G:A 723_332_111_P->L 0.000199681 270 chr19:6665331:C:T 723_329_110_G->E 0.000199681 270 chr19:6665341:C:T 723_319_107_G->S 0.000199681 270 chr19:6667148:C:T 723_274_92_V->I 0.000199681 270 chr19:6667151:C:T 723_271_91_E->K 0.000798722 270 chr19:6667450:G:A 723_230_77_A->V 0.000399361 270 chr19:6669986:G:A 723_95_32_S->L 0.00159744 270 chr19:6670004:C:T 723_77_26_R->Q 0.000199681 270 chr19:6670017:T:C 723_64_22_T->A 0.000199681 270 chr19:6670065:C:T 723_16_6_V->I 0.000199681 270 chr19:6670070:C:A 723_11_4_S->I 0.000199681 270 na12878 Variants: 270 chr19:6665020:T:C 723_640_214_K->E 270 snyder Variants: 270 chr19:6665020:T:C 723_640_214_K->E 271 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134318_ENST00000315872 gene_Name: ROCK2_HUMAN 271 list of pdbs: 271 4L6Q pdb_description: PDB_DESCRIPTION_NOT_AVAILABLE 271 Zimmer Variants: 271 chr2:11359120:G:T 4167_1292_431_T->N 271 HGMD Variants: 271 chr2:11355100:T:A 4167_1802_601_D->V 271 chr2:11359120:G:T 4167_1292_431_T->N 271 oneKG Variants: 271 chr2:11332646:G:C 4167_3880_1294_R->G 0.000199681 271 chr2:11332757:A:C 4167_3769_1257_C->G 0.000199681 271 chr2:11337314:C:G 4167_3440_1147_G->A 0.000199681 271 chr2:11337330:C:T 4167_3424_1142_A->T 0.00139776 271 chr2:11337357:A:C 4167_3397_1133_S->A 0.000199681 271 chr2:11338668:A:C 4167_3048_1016_I->M 0.000798722 271 chr2:11341093:G:A 4167_2900_967_T->I 0.000599042 271 chr2:11348417:T:C 4167_2360_787_E->G 0.000399361 271 chr2:11348524:C:G 4167_2253_751_E->D 0.000399361 271 chr2:11348529:C:A 4167_2248_750_V->L 0.000199681 271 chr2:11355642:T:G 4167_1591_531_N->H 0.000199681 271 chr2:11359112:T:C 4167_1300_434_I->V 0.000199681 271 chr2:11359120:G:T 4167_1292_431_T->N 0.39976 271 chr2:11359138:G:A 4167_1274_425_S->F 0.000399361 271 chr2:11364521:A:T 4167_934_312_S->T 0.000199681 271 chr2:11389842:A:C 4167_407_136_F->C 0.000199681 271 chr2:11389912:C:G 4167_337_113_A->P 0.000199681 271 chr2:11426714:T:A 4167_275_92_Y->F 0.000199681 271 chr2:11484142:T:C 4167_121_41_I->V 0.000199681 271 chr2:11484160:G:C 4167_103_35_R->G 0.000199681 271 na12878 Variants: 271 chr2:11359120:G:T 4167_1292_431_T->N 271 snyder Variants: 271 chr2:11359120:G:T 4167_1292_431_T->N 272 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138398_ENST00000260970 gene_Name: PPIG_HUMAN 272 list of pdbs: 272 2WFJ pdb_description: 16-Jun-09 X-ray 0.750 Atomic resolution crystal structure of the ppiase domain of human cyclophilin g in complex with cyclosporin a. 272 2WFI pdb_description: 16-Jun-09 X-ray 0.750 Atomic resolution crystal structure of the ppiase domain of human cyclophilin g 272 2GW2 pdb_description: 13-Jun-06 X-ray 1.800 Crystal structure of the peptidyl-prolyl isomerase domain of human cyclophilin g 272 Zimmer Variants: 272 chr2:170493103:T:A 2265_1335_445_D->E 272 chr2:170493863:A:G 2265_2095_699_N->D 272 HGMD Variants: 272 chr2:170493863:A:G 2265_2095_699_N->D 272 oneKG Variants: 272 chr2:170487452:G:A 2265_716_239_R->Q 0.000199681 272 chr2:170488283:A:G 2265_769_257_S->G 0.000399361 272 chr2:170488284:G:A 2265_770_257_S->N 0.000199681 272 chr2:170488325:A:G 2265_811_271_T->A 0.000199681 272 chr2:170488419:G:A 2265_905_302_R->K 0.000199681 272 chr2:170492633:G:A 2265_1049_350_R->K 0.000199681 272 chr2:170492955:G:A 2265_1187_396_R->K 0.00259585 272 chr2:170493103:T:A 2265_1335_445_D->E 0.415735 272 chr2:170493134:G:A 2265_1366_456_A->T 0.000199681 272 chr2:170493230:A:G 2265_1462_488_R->G 0.000199681 272 chr2:170493368:A:G 2265_1600_534_K->E 0.000199681 272 chr2:170493403:G:T 2265_1635_545_R->S 0.000199681 272 chr2:170493461:C:G 2265_1693_565_R->G 0.000199681 272 chr2:170493471:G:C 2265_1703_568_S->T 0.000399361 272 chr2:170493546:A:C 2265_1778_593_Y->S 0.000199681 272 chr2:170493567:G:C 2265_1799_600_R->T 0.000599042 272 chr2:170493654:G:A 2265_1886_629_R->Q 0.000199681 272 chr2:170493677:C:G 2265_1909_637_Q->E 0.0105831 272 chr2:170493692:G:T 2265_1924_642_D->Y 0.000199681 272 chr2:170493741:C:T 2265_1973_658_S->F 0.0 272 chr2:170493774:G:A 2265_2006_669_R->H 0.000199681 272 chr2:170493863:A:G 2265_2095_699_N->D 0.199081 272 chr2:170493896:G:C 2265_2128_710_E->Q 0.000199681 272 na12878 Variants: 272 chr2:170493103:T:A 2265_1335_445_D->E 272 chr2:170493863:A:G 2265_2095_699_N->D 272 snyder Variants: 272 chr2:170493103:T:A 2265_1335_445_D->E 273 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138398_ENST00000448752 gene_Name: PPIG_HUMAN 273 list of pdbs: 273 2WFJ pdb_description: 16-Jun-09 X-ray 0.750 Atomic resolution crystal structure of the ppiase domain of human cyclophilin g in complex with cyclosporin a. 273 2WFI pdb_description: 16-Jun-09 X-ray 0.750 Atomic resolution crystal structure of the ppiase domain of human cyclophilin g 273 2GW2 pdb_description: 13-Jun-06 X-ray 1.800 Crystal structure of the peptidyl-prolyl isomerase domain of human cyclophilin g 273 Zimmer Variants: 273 chr2:170493103:T:A 2265_1335_445_D->E;GNEG=Yes;GENE=PPIG;CDSS=3 273 chr2:170493863:A:G 2265_2095_699_N->D;GNEG=Yes;GENE=PPIG;CDSS=3 273 HGMD Variants: 273 chr2:170493863:A:G 2265_2095_699_N->D 273 oneKG Variants: 273 chr2:170487452:G:A 2265_716_239_R->Q 0.000199681 273 chr2:170488283:A:G 2265_769_257_S->G 0.000399361 273 chr2:170488284:G:A 2265_770_257_S->N 0.000199681 273 chr2:170488325:A:G 2265_811_271_T->A 0.000199681 273 chr2:170488419:G:A 2265_905_302_R->K 0.000199681 273 chr2:170492633:G:A 2265_1049_350_R->K 0.000199681 273 chr2:170492955:G:A 2265_1187_396_R->K 0.00259585 273 chr2:170493103:T:A 2265_1335_445_D->E 0.415735 273 chr2:170493134:G:A 2265_1366_456_A->T 0.000199681 273 chr2:170493230:A:G 2265_1462_488_R->G 0.000199681 273 chr2:170493368:A:G 2265_1600_534_K->E 0.000199681 273 chr2:170493403:G:T 2265_1635_545_R->S 0.000199681 273 chr2:170493461:C:G 2265_1693_565_R->G 0.000199681 273 chr2:170493471:G:C 2265_1703_568_S->T 0.000399361 273 chr2:170493546:A:C 2265_1778_593_Y->S 0.000199681 273 chr2:170493567:G:C 2265_1799_600_R->T 0.000599042 273 chr2:170493654:G:A 2265_1886_629_R->Q 0.000199681 273 chr2:170493677:C:G 2265_1909_637_Q->E 0.0105831 273 chr2:170493692:G:T 2265_1924_642_D->Y 0.000199681 273 chr2:170493741:C:T 2265_1973_658_S->F 0.0 273 chr2:170493774:G:A 2265_2006_669_R->H 0.000199681 273 chr2:170493863:A:G 2265_2095_699_N->D 0.199081 273 chr2:170493896:G:C 2265_2128_710_E->Q 0.000199681 273 na12878 Variants: 273 chr2:170493103:T:A 2265_1335_445_D->E 273 chr2:170493863:A:G 2265_2095_699_N->D 273 snyder Variants: 273 chr2:170493103:T:A 2265_1335_445_D->E 274 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000342992 gene_Name: TITIN_HUMAN 274 list of pdbs: 274 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 274 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 274 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 274 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 274 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 274 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 274 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 274 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 274 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 274 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 274 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 274 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 274 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 274 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 274 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 274 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 274 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 274 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 274 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 274 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 274 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 274 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 274 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 274 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 274 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 274 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 274 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 274 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 274 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 274 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 274 Zimmer Variants: 274 chr2:179397561:C:T 100272_96077_32026_R->H 274 chr2:179406191:C:T 100272_89909_29970_R->H 274 chr2:179427536:T:C 100272_75619_25207_I->V 274 chr2:179430997:G:A 100272_72158_24053_T->M 274 chr2:179432185:A:G 100272_70970_23657_I->T 274 chr2:179436020:G:A 100272_67135_22379_R->C 274 chr2:179444939:C:T 100272_59371_19791_V->I 274 chr2:179457147:G:A 100272_51881_17294_P->L 274 chr2:179458591:C:T 100272_50732_16911_R->H 274 chr2:179464527:T:C 100272_48397_16133_N->D 274 chr2:179472223:A:G 100272_45488_15163_I->T 274 chr2:179554305:C:T 100272_28132_9378_G->R 274 chr2:179558366:T:C 100272_27832_9278_I->V 274 chr2:179629461:C:T 100272_9781_3261_V->M 274 chr2:179634421:T:G 100272_8887_2963_T->P 274 chr2:179644035:G:A 100272_3884_1295_S->L 274 chr2:179644855:T:C 100272_3601_1201_K->E 274 chr2:179421694:A:G 100272_80483_26828_I->T 274 chr2:179545859:C:T 100272_29555_9852_R->H 274 chr2:179623758:C:T 100272_10256_3419_S->N 274 HGMD Variants: 274 chr2:179391825:G:A 100272_100186_33396_Q->* 274 chr2:179395510:G:A 100272_98128_32710_Q->* 274 chr2:179397250:G:A 100272_96388_32130_R->* 274 chr2:179398393:G:A 100272_95245_31749_Q->* 274 chr2:179398819:G:A 100272_94819_31607_R->* 274 chr2:179400115:G:A 100272_93523_31175_R->* 274 chr2:179401029:G:T 100272_92741_30914_S->* 274 chr2:179403522:T:A 100272_91330_30444_K->* 274 chr2:179404286:G:A 100272_90802_30268_R->* 274 chr2:179410799:G:A 100272_87460_29154_Q->* 274 chr2:179412902:C:A 100272_85747_28583_E->* 274 chr2:179413187:G:A 100272_85462_28488_R->* 274 chr2:179413477:C:T 100272_85172_28391_W->* 274 chr2:179422457:G:T 100272_79920_26640_Y->* 274 chr2:179423146:G:A 100272_79336_26446_R->* 274 chr2:179424496:C:T 100272_78659_26220_W->* 274 chr2:179424890:T:A 100272_78265_26089_K->* 274 chr2:179425091:G:A 100272_78064_26022_R->* 274 chr2:179426040:C:T 100272_77115_25705_W->* 274 chr2:179428202:C:A 100272_74953_24985_G->* 274 chr2:179428871:G:A 100272_74284_24762_Q->* 274 chr2:179429822:G:A 100272_73333_24445_R->* 274 chr2:179433095:G:A 100272_70060_23354_Q->* 274 chr2:179440999:C:T 100272_62156_20719_W->* 274 chr2:179444429:G:A 100272_59791_19931_R->* 274 chr2:179447693:G:C 100272_58133_19378_S->* 274 chr2:179452435:G:A 100272_55897_18633_R->* 274 chr2:179454576:G:A 100272_54172_18058_R->* 274 chr2:179454957:G:A 100272_53791_17931_R->* 274 chr2:179455162:A:T 100272_53586_17862_C->* 274 chr2:179456553:C:T 100272_52289_17430_W->* 274 chr2:179458850:C:A 100272_50566_16856_E->* 274 chr2:179460363:G:A 100272_50014_16672_R->* 274 chr2:179462478:G:A 100272_49627_16543_R->* 274 chr2:179463631:G:A 100272_49102_16368_R->* 274 chr2:179469904:C:T 100272_46296_15432_W->* 274 chr2:179470369:C:A 100272_45949_15317_E->* 274 chr2:179471841:C:A 100272_45784_15262_G->* 274 chr2:179481235:G:A 100272_40579_13527_R->* 274 chr2:179483495:G:T 100272_39078_13026_Y->* 274 chr2:179483504:A:T 100272_39069_13023_Y->* 274 chr2:179485012:G:T 100272_38532_12844_C->* 274 chr2:179485878:G:T 100272_37863_12621_Y->* 274 chr2:179486244:G:A 100272_37603_12535_R->* 274 chr2:179505980:T:A 100272_32917_10973_K->* 274 chr2:179647599:G:A 100272_3034_1012_R->* 274 chr2:179391848:A:G 100272_100163_33388_L->P 274 chr2:179391875:A:T 100272_100136_33379_I->N 274 chr2:179391878:T:G 100272_100133_33378_H->P 274 chr2:179392277:A:G 100272_99872_33291_M->T 274 chr2:179395188:T:G 100272_98450_32817_K->T 274 chr2:179397432:C:T 100272_96206_32069_R->Q 274 chr2:179397654:A:G 100272_95984_31995_V->A 274 chr2:179399071:G:A 100272_94567_31523_R->W 274 chr2:179399128:A:G 100272_94510_31504_W->R 274 chr2:179401230:G:A 100272_92540_30847_P->L 274 chr2:179407285:G:T 100272_89494_29832_P->T 274 chr2:179410591:C:A 100272_87668_29223_G->V 274 chr2:179410591:C:T 100272_87668_29223_G->D 274 chr2:179410592:C:G 100272_87667_29223_G->R 274 chr2:179410605:G:C 100272_87654_29218_N->K 274 chr2:179410768:G:A 100272_87491_29164_P->L 274 chr2:179410768:G:A 100272_87491_29164_P->L 274 chr2:179410776:C:G 100272_87483_29161_W->C 274 chr2:179410777:C:A 100272_87482_29161_W->L 274 chr2:179410778:A:G 100272_87481_29161_W->R 274 chr2:179410828:C:T 100272_87431_29144_C->Y 274 chr2:179410829:A:G 100272_87430_29144_C->R 274 chr2:179410829:A:G 100272_87430_29144_C->R 274 chr2:179410837:G:C 100272_87422_29141_P->R 274 chr2:179410837:G:C 100272_87422_29141_P->R 274 chr2:179410975:C:T 100272_87379_29127_G->R 274 chr2:179412679:A:G 100272_85970_28657_I->T 274 chr2:179414186:G:A 100272_84463_28155_P->S 274 chr2:179426079:T:G 100272_77076_25692_E->D 274 chr2:179439884:C:T 100272_63271_21091_G->S 274 chr2:179442784:C:G 100272_60754_20252_A->P 274 chr2:179446300:A:T 100272_58991_19664_V->E 274 chr2:179447901:C:A 100272_57925_19309_A->S 274 chr2:179452695:C:T 100272_55735_18579_A->T 274 chr2:179458477:A:G 100272_50846_16949_I->T 274 chr2:179463490:C:T 100272_49243_16415_A->T 274 chr2:179466511:C:T 100272_47602_15868_E->K 274 chr2:179477195:T:C 100272_42353_14118_Y->C 274 chr2:179485846:G:C 100272_37895_12632_A->G 274 chr2:179506964:C:G 100272_32854_10952_V->L 274 chr2:179506964:C:G 100272_32854_10952_V->L 274 chr2:179567340:G:A 100272_26542_8848_H->Y 274 chr2:179569962:C:T 100272_25811_8604_R->Q 274 chr2:179570033:C:A 100272_25740_8580_M->I 274 chr2:179571370:C:T 100272_25499_8500_R->H 274 chr2:179576733:T:C 100272_24092_8031_Y->C 274 chr2:179587773:C:T 100272_18229_6077_E->K 274 chr2:179590188:C:A 100272_17011_5671_A->S 274 chr2:179593110:G:T 100272_15709_5237_P->T 274 chr2:179594832:G:A 100272_14563_4855_L->F 274 chr2:179599667:G:C 100272_11252_3751_P->R 274 chr2:179602841:C:T 100272_10607_3536_S->N 274 chr2:179603039:C:T 100272_10409_3470_G->D 274 chr2:179634621:G:A 100272_8687_2896_T->I 274 chr2:179635998:T:C 100272_8056_2686_I->V 274 chr2:179635998:T:C 100272_8056_2686_I->V 274 chr2:179638834:C:T 100272_7061_2354_R->H 274 chr2:179641014:C:A 100272_5577_1859_R->S 274 chr2:179647533:C:T 100272_3100_1034_V->M 274 chr2:179647707:A:G 100272_2926_976_W->R 274 chr2:179650717:G:A 100272_2228_743_A->V 274 chr2:179650726:C:A 100272_2219_740_R->L 274 chr2:179667000:C:T 100272_160_54_V->M 274 oneKG Variants: 274 chr2:179393524:G:A 100272_99250_33084_R->* 0.000199681 274 chr2:179404241:G:A 100272_90847_30283_R->* 0.000199681 274 chr2:179411199:A:C 100272_87155_29052_L->* 0.000199681 274 chr2:179412199:G:C 100272_86450_28817_S->* 0.000199681 274 chr2:179429372:C:A 100272_73783_24595_E->* 0.000199681 274 chr2:179429538:G:T 100272_73617_24539_Y->* 0.00219649 274 chr2:179433674:T:A 100272_69481_23161_K->* 0.000199681 274 chr2:179434205:G:A 100272_68950_22984_R->* 0.000199681 274 chr2:179444429:G:A 100272_59791_19931_R->* 0.000199681 274 chr2:179455726:A:T 100272_53022_17674_Y->* 0.000199681 274 chr2:179478953:G:A 100272_41467_13823_R->* 0.000199681 274 chr2:179494977:G:A 100272_36568_12190_R->* 0.000199681 274 chr2:179588868:G:A 100272_17386_5796_R->* 0.000199681 274 chr2:179391749:C:T 100272_100262_33421_R->Q 0.000199681 274 chr2:179391819:C:T 100272_100192_33398_G->S 0.000199681 274 chr2:179391921:A:T 100272_100090_33364_C->S 0.000199681 274 chr2:179391962:C:T 100272_100049_33350_C->Y 0.000399361 274 chr2:179391987:C:T 100272_100024_33342_E->K 0.000199681 274 chr2:179392248:T:C 100272_99901_33301_S->G 0.000399361 274 chr2:179392277:A:G 100272_99872_33291_M->T 0.00219649 274 chr2:179392469:A:G 100272_99680_33227_V->A 0.000199681 274 chr2:179393111:A:G 100272_99563_33188_V->A 0.0920527 274 chr2:179393124:G:A 100272_99550_33184_R->C 0.000199681 274 chr2:179393148:T:C 100272_99526_33176_I->V 0.000199681 274 chr2:179393358:T:A 100272_99416_33139_Q->L 0.000199681 274 chr2:179393374:G:C 100272_99400_33134_P->A 0.000199681 274 chr2:179393389:C:G 100272_99385_33129_E->Q 0.000199681 274 chr2:179393469:C:G 100272_99305_33102_R->T 0.000399361 274 chr2:179393563:C:G 100272_99211_33071_V->L 0.000199681 274 chr2:179393602:A:C 100272_99172_33058_L->V 0.000599042 274 chr2:179393620:C:T 100272_99154_33052_E->K 0.000199681 274 chr2:179393653:T:C 100272_99121_33041_I->V 0.000199681 274 chr2:179393691:G:A 100272_99083_33028_T->I 0.00379393 274 chr2:179393751:A:G 100272_99023_33008_V->A 0.000199681 274 chr2:179393803:C:G 100272_98971_32991_E->Q 0.000399361 274 chr2:179393859:A:G 100272_98915_32972_I->T 0.00459265 274 chr2:179393898:T:A 100272_98876_32959_E->V 0.00119808 274 chr2:179393941:T:G 100272_98833_32945_K->Q 0.000199681 274 chr2:179394707:C:G 100272_98807_32936_S->T 0.000199681 274 chr2:179394795:A:T 100272_98719_32907_F->I 0.000199681 274 chr2:179394827:C:T 100272_98687_32896_G->D 0.000199681 274 chr2:179394993:G:C 100272_98645_32882_T->S 0.000199681 274 chr2:179395000:G:A 100272_98638_32880_R->W 0.000199681 274 chr2:179395084:G:A 100272_98554_32852_P->S 0.000199681 274 chr2:179395233:G:T 100272_98405_32802_T->N 0.000199681 274 chr2:179395281:T:C 100272_98357_32786_Q->R 0.000599042 274 chr2:179395417:T:G 100272_98221_32741_S->R 0.000199681 274 chr2:179395461:G:A 100272_98177_32726_A->V 0.000199681 274 chr2:179395500:G:A 100272_98138_32713_P->L 0.000199681 274 chr2:179395554:G:A 100272_98084_32695_A->V 0.00519169 274 chr2:179395555:C:A 100272_98083_32695_A->S 0.00519169 274 chr2:179395560:G:A 100272_98078_32693_P->L 0.0792732 274 chr2:179395573:C:T 100272_98065_32689_E->K 0.00658946 274 chr2:179395605:G:C 100272_98033_32678_A->G 0.000199681 274 chr2:179395623:C:T 100272_98015_32672_R->Q 0.000199681 274 chr2:179395689:A:G 100272_97949_32650_I->T 0.000399361 274 chr2:179395700:G:T 100272_97938_32646_F->L 0.000798722 274 chr2:179395717:T:G 100272_97921_32641_K->Q 0.000199681 274 chr2:179395813:C:T 100272_97825_32609_V->M 0.0105831 274 chr2:179395852:G:A 100272_97786_32596_R->C 0.000199681 274 chr2:179395875:G:C 100272_97763_32588_P->R 0.000199681 274 chr2:179395893:C:T 100272_97745_32582_C->Y 0.000199681 274 chr2:179395912:C:T 100272_97726_32576_E->K 0.000199681 274 chr2:179395935:C:T 100272_97703_32568_R->Q 0.000199681 274 chr2:179396130:G:C 100272_97508_32503_S->C 0.000998403 274 chr2:179396162:C:G 100272_97476_32492_E->D 0.0229633 274 chr2:179396206:C:T 100272_97432_32478_E->K 0.000199681 274 chr2:179396214:C:T 100272_97424_32475_R->H 0.000199681 274 chr2:179396215:G:A 100272_97423_32475_R->C 0.00119808 274 chr2:179396251:C:T 100272_97387_32463_V->M 0.000199681 274 chr2:179396293:T:C 100272_97345_32449_T->A 0.000399361 274 chr2:179396305:G:A 100272_97333_32445_R->C 0.000199681 274 chr2:179396311:T:C 100272_97327_32443_T->A 0.000199681 274 chr2:179396329:G:A 100272_97309_32437_H->Y 0.000199681 274 chr2:179396475:C:T 100272_97163_32388_G->D 0.000599042 274 chr2:179396497:G:A 100272_97141_32381_R->C 0.000199681 274 chr2:179396610:T:C 100272_97028_32343_Y->C 0.000199681 274 chr2:179396766:C:T 100272_96872_32291_R->Q 0.00359425 274 chr2:179396782:C:G 100272_96856_32286_V->L 0.00239617 274 chr2:179396808:G:A 100272_96830_32277_P->L 0.000199681 274 chr2:179396824:G:A 100272_96814_32272_R->W 0.000199681 274 chr2:179396826:C:T 100272_96812_32271_R->Q 0.000399361 274 chr2:179396878:A:G 100272_96760_32254_S->P 0.000199681 274 chr2:179396928:C:T 100272_96710_32237_R->Q 0.000399361 274 chr2:179396965:T:G 100272_96673_32225_M->L 0.00758786 274 chr2:179396977:C:T 100272_96661_32221_E->K 0.00119808 274 chr2:179396995:G:A 100272_96643_32215_L->F 0.000399361 274 chr2:179397091:C:G 100272_96547_32183_A->P 0.000199681 274 chr2:179397163:T:C 100272_96475_32159_R->G 0.000199681 274 chr2:179397216:C:T 100272_96422_32141_R->H 0.000199681 274 chr2:179397238:G:C 100272_96400_32134_H->D 0.000199681 274 chr2:179397297:C:T 100272_96341_32114_R->H 0.000399361 274 chr2:179397327:G:A 100272_96311_32104_A->V 0.000199681 274 chr2:179397349:G:C 100272_96289_32097_L->V 0.000199681 274 chr2:179397403:A:G 100272_96235_32079_Y->H 0.000199681 274 chr2:179397429:C:T 100272_96209_32070_R->H 0.000199681 274 chr2:179397433:G:A 100272_96205_32069_R->W 0.000199681 274 chr2:179397475:T:G 100272_96163_32055_K->Q 0.000199681 274 chr2:179397513:C:T 100272_96125_32042_R->H 0.000199681 274 chr2:179397561:C:T 100272_96077_32026_R->H 0.208666 274 chr2:179397619:G:A 100272_96019_32007_R->C 0.000399361 274 chr2:179397709:G:T 100272_95929_31977_P->T 0.000199681 274 chr2:179397717:A:G 100272_95921_31974_V->A 0.000199681 274 chr2:179397751:T:C 100272_95887_31963_K->E 0.000199681 274 chr2:179397856:T:C 100272_95782_31928_T->A 0.000199681 274 chr2:179397871:C:T 100272_95767_31923_E->K 0.000199681 274 chr2:179397908:G:T 100272_95730_31910_D->E 0.000199681 274 chr2:179397925:C:T 100272_95713_31905_V->I 0.000399361 274 chr2:179397930:C:T 100272_95708_31903_R->Q 0.00139776 274 chr2:179397937:G:T 100272_95701_31901_H->N 0.000199681 274 chr2:179397979:G:A 100272_95659_31887_R->C 0.00319489 274 chr2:179398024:T:C 100272_95614_31872_N->D 0.000199681 274 chr2:179398050:G:A 100272_95588_31863_T->M 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100272_3133_1045_V->M 0.000199681 274 chr2:179647533:C:T 100272_3100_1034_V->M 0.000399361 274 chr2:179647635:G:A 100272_2998_1000_L->F 0.000199681 274 chr2:179647718:G:A 100272_2915_972_P->L 0.000199681 274 chr2:179648460:G:A 100272_2828_943_P->L 0.000199681 274 chr2:179648805:C:T 100272_2767_923_E->K 0.000199681 274 chr2:179648807:C:T 100272_2765_922_R->H 0.00319489 274 chr2:179648808:G:A 100272_2764_922_R->C 0.00179712 274 chr2:179648829:G:A 100272_2743_915_R->C 0.000199681 274 chr2:179648883:C:G 100272_2689_897_E->Q 0.000199681 274 chr2:179648886:C:T 100272_2686_896_V->I 0.000599042 274 chr2:179648901:T:C 100272_2671_891_K->E 0.000199681 274 chr2:179648954:G:A 100272_2618_873_A->V 0.000199681 274 chr2:179648967:T:A 100272_2605_869_T->S 0.000199681 274 chr2:179648978:T:G 100272_2594_865_K->T 0.000199681 274 chr2:179650408:G:A 100272_2432_811_T->I 0.100439 274 chr2:179650414:G:C 100272_2426_809_P->R 0.000199681 274 chr2:179650418:G:A 100272_2422_808_R->C 0.000199681 274 chr2:179650444:G:A 100272_2396_799_T->M 0.000798722 274 chr2:179650635:C:A 100272_2310_770_Q->H 0.000798722 274 chr2:179650675:G:A 100272_2270_757_P->L 0.00479233 274 chr2:179650681:G:A 100272_2264_755_S->L 0.000798722 274 chr2:179650690:C:T 100272_2255_752_R->H 0.000199681 274 chr2:179650715:C:T 100272_2230_744_A->T 0.00119808 274 chr2:179650727:G:T 100272_2218_740_R->S 0.000199681 274 chr2:179654121:G:T 100272_2042_681_T->N 0.0644968 274 chr2:179654136:C:A 100272_2027_676_R->I 0.000199681 274 chr2:179654141:T:G 100272_2022_674_R->S 0.000399361 274 chr2:179654220:C:G 100272_1943_648_R->T 0.000199681 274 chr2:179655512:T:C 100272_1723_575_T->A 0.000199681 274 chr2:179655526:G:A 100272_1709_570_A->V 0.000998403 274 chr2:179656876:C:T 100272_1585_529_A->T 0.000399361 274 chr2:179658145:C:T 100272_1522_508_V->I 0.000199681 274 chr2:179658175:C:T 100272_1492_498_V->I 0.00758786 274 chr2:179659191:C:T 100272_1333_445_A->T 0.000399361 274 chr2:179659199:A:G 100272_1325_442_V->A 0.000199681 274 chr2:179659200:C:T 100272_1324_442_V->M 0.000399361 274 chr2:179659227:C:T 100272_1297_433_V->I 0.000798722 274 chr2:179659681:C:T 100272_1213_405_A->T 0.000199681 274 chr2:179659722:G:A 100272_1172_391_A->V 0.000199681 274 chr2:179659795:A:G 100272_1099_367_S->P 0.000199681 274 chr2:179659815:C:G 100272_1079_360_R->T 0.0119808 274 chr2:179659845:T:C 100272_1049_350_Y->C 0.000199681 274 chr2:179659891:C:T 100272_1003_335_V->M 0.0139776 274 chr2:179659912:G:A 100272_982_328_R->C 0.236022 274 chr2:179659924:G:A 100272_970_324_P->S 0.00159744 274 chr2:179659928:C:A 100272_966_322_R->S 0.000199681 274 chr2:179664442:A:G 100272_686_229_F->S 0.000199681 274 chr2:179665163:C:T 100272_542_181_S->N 0.0181709 274 chr2:179665166:T:C 100272_539_180_N->S 0.000399361 274 chr2:179665220:A:T 100272_485_162_L->Q 0.000199681 274 chr2:179665308:G:A 100272_397_133_P->S 0.000199681 274 chr2:179665358:C:G 100272_347_116_R->T 0.000199681 274 chr2:179665362:C:T 100272_343_115_V->M 0.000399361 274 chr2:179666871:C:T 100272_289_97_V->M 0.00119808 274 chr2:179666982:C:A 100272_178_60_D->Y 0.0289537 274 chr2:179667000:C:T 100272_160_54_V->M 0.000599042 274 chr2:179667003:C:T 100272_157_53_G->S 0.000199681 274 chr2:179667015:A:G 100272_145_49_S->P 0.000199681 274 chr2:179669327:C:T 100272_43_15_V->I 0.000199681 274 chr2:179669357:C:T 100272_13_5_A->T 0.000199681 274 na12878 Variants: 274 chr2:179396766:C:T 100272_96872_32291_R->Q 274 chr2:179432185:A:G 100272_70970_23657_I->T 274 chr2:179554305:C:T 100272_28132_9378_G->R 274 chr2:179629461:C:T 100272_9781_3261_V->M 274 chr2:179644035:G:A 100272_3884_1295_S->L 274 chr2:179644855:T:C 100272_3601_1201_K->E 274 chr2:179545859:C:T 100272_29555_9852_R->H 274 chr2:179623758:C:T 100272_10256_3419_S->N 274 snyder Variants: 274 chr2:179432185:A:G 100272_70970_23657_I->T 274 chr2:179438480:C:T 100272_64675_21559_E->K 274 chr2:179448393:G:A 100272_57812_19271_A->V 274 chr2:179449131:G:A 100272_57443_19148_S->L 274 chr2:179554305:C:T 100272_28132_9378_G->R 274 chr2:179556748:G:T 100272_28025_9342_P->Q 274 chr2:179587955:G:T 100272_18047_6016_S->Y 274 chr2:179588159:C:T 100272_17936_5979_R->H 274 chr2:179595372:T:C 100272_14156_4719_E->G 274 chr2:179629461:C:T 100272_9781_3261_V->M 274 chr2:179644035:G:A 100272_3884_1295_S->L 274 chr2:179644855:T:C 100272_3601_1201_K->E 274 chr2:179545859:C:T 100272_29555_9852_R->H 274 chr2:179623758:C:T 100272_10256_3419_S->N 275 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000460472 gene_Name: TITIN_HUMAN 275 list of pdbs: 275 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 275 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 275 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 275 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 275 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 275 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 275 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 275 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 275 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 275 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 275 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 275 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 275 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 275 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 275 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 275 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 275 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 275 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 275 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 275 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 275 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 275 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 275 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 275 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 275 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 275 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 275 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 275 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 275 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 275 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 275 Zimmer Variants: 275 chr2:179397561:C:T 80781_76586_25529_R->H 275 chr2:179406191:C:T 80781_70418_23473_R->H 275 chr2:179427536:T:C 80781_56128_18710_I->V 275 chr2:179430997:G:A 80781_52667_17556_T->M 275 chr2:179432185:A:G 80781_51479_17160_I->T 275 chr2:179436020:G:A 80781_47644_15882_R->C 275 chr2:179444939:C:T 80781_39880_13294_V->I 275 chr2:179457147:G:A 80781_32390_10797_P->L 275 chr2:179458591:C:T 80781_31241_10414_R->H 275 chr2:179464527:T:C 80781_28906_9636_N->D 275 chr2:179472223:A:G 80781_25997_8666_I->T 275 chr2:179629461:C:T 80781_9643_3215_V->M 275 chr2:179634421:T:G 80781_8749_2917_T->P 275 chr2:179644035:G:A 80781_3746_1249_S->L 275 chr2:179644855:T:C 80781_3463_1155_K->E 275 chr2:179421694:A:G 80781_60992_20331_I->T 275 chr2:179623758:C:T 80781_10118_3373_S->N 275 HGMD Variants: 275 chr2:179391825:G:A 80781_80695_26899_Q->* 275 chr2:179395510:G:A 80781_78637_26213_Q->* 275 chr2:179397250:G:A 80781_76897_25633_R->* 275 chr2:179398393:G:A 80781_75754_25252_Q->* 275 chr2:179398819:G:A 80781_75328_25110_R->* 275 chr2:179400115:G:A 80781_74032_24678_R->* 275 chr2:179401029:G:T 80781_73250_24417_S->* 275 chr2:179403522:T:A 80781_71839_23947_K->* 275 chr2:179404286:G:A 80781_71311_23771_R->* 275 chr2:179410799:G:A 80781_67969_22657_Q->* 275 chr2:179412902:C:A 80781_66256_22086_E->* 275 chr2:179413187:G:A 80781_65971_21991_R->* 275 chr2:179413477:C:T 80781_65681_21894_W->* 275 chr2:179422457:G:T 80781_60429_20143_Y->* 275 chr2:179423146:G:A 80781_59845_19949_R->* 275 chr2:179424496:C:T 80781_59168_19723_W->* 275 chr2:179424890:T:A 80781_58774_19592_K->* 275 chr2:179425091:G:A 80781_58573_19525_R->* 275 chr2:179426040:C:T 80781_57624_19208_W->* 275 chr2:179428202:C:A 80781_55462_18488_G->* 275 chr2:179428871:G:A 80781_54793_18265_Q->* 275 chr2:179429822:G:A 80781_53842_17948_R->* 275 chr2:179433095:G:A 80781_50569_16857_Q->* 275 chr2:179440999:C:T 80781_42665_14222_W->* 275 chr2:179444429:G:A 80781_40300_13434_R->* 275 chr2:179447693:G:C 80781_38642_12881_S->* 275 chr2:179452435:G:A 80781_36406_12136_R->* 275 chr2:179454576:G:A 80781_34681_11561_R->* 275 chr2:179454957:G:A 80781_34300_11434_R->* 275 chr2:179455162:A:T 80781_34095_11365_C->* 275 chr2:179456553:C:T 80781_32798_10933_W->* 275 chr2:179458850:C:A 80781_31075_10359_E->* 275 chr2:179460363:G:A 80781_30523_10175_R->* 275 chr2:179462478:G:A 80781_30136_10046_R->* 275 chr2:179463631:G:A 80781_29611_9871_R->* 275 chr2:179469904:C:T 80781_26805_8935_W->* 275 chr2:179470369:C:A 80781_26458_8820_E->* 275 chr2:179471841:C:A 80781_26293_8765_G->* 275 chr2:179481235:G:A 80781_21088_7030_R->* 275 chr2:179483495:G:T 80781_19587_6529_Y->* 275 chr2:179483504:A:T 80781_19578_6526_Y->* 275 chr2:179485012:G:T 80781_19041_6347_C->* 275 chr2:179485878:G:T 80781_18372_6124_Y->* 275 chr2:179486244:G:A 80781_18112_6038_R->* 275 chr2:179505980:T:A 80781_13426_4476_K->* 275 chr2:179604264:G:A 80781_12607_4203_Q->* 275 chr2:179604852:G:A 80781_12019_4007_Q->* 275 chr2:179605373:G:T 80781_11498_3833_S->* 275 chr2:179605752:C:A 80781_11119_3707_E->* 275 chr2:179647599:G:A 80781_2896_966_R->* 275 chr2:179391848:A:G 80781_80672_26891_L->P 275 chr2:179391875:A:T 80781_80645_26882_I->N 275 chr2:179391878:T:G 80781_80642_26881_H->P 275 chr2:179392277:A:G 80781_80381_26794_M->T 275 chr2:179395188:T:G 80781_78959_26320_K->T 275 chr2:179397432:C:T 80781_76715_25572_R->Q 275 chr2:179397654:A:G 80781_76493_25498_V->A 275 chr2:179399071:G:A 80781_75076_25026_R->W 275 chr2:179399128:A:G 80781_75019_25007_W->R 275 chr2:179401230:G:A 80781_73049_24350_P->L 275 chr2:179407285:G:T 80781_70003_23335_P->T 275 chr2:179410591:C:A 80781_68177_22726_G->V 275 chr2:179410591:C:T 80781_68177_22726_G->D 275 chr2:179410592:C:G 80781_68176_22726_G->R 275 chr2:179410605:G:C 80781_68163_22721_N->K 275 chr2:179410768:G:A 80781_68000_22667_P->L 275 chr2:179410768:G:A 80781_68000_22667_P->L 275 chr2:179410776:C:G 80781_67992_22664_W->C 275 chr2:179410777:C:A 80781_67991_22664_W->L 275 chr2:179410778:A:G 80781_67990_22664_W->R 275 chr2:179410828:C:T 80781_67940_22647_C->Y 275 chr2:179410829:A:G 80781_67939_22647_C->R 275 chr2:179410829:A:G 80781_67939_22647_C->R 275 chr2:179410837:G:C 80781_67931_22644_P->R 275 chr2:179410837:G:C 80781_67931_22644_P->R 275 chr2:179410975:C:T 80781_67888_22630_G->R 275 chr2:179412679:A:G 80781_66479_22160_I->T 275 chr2:179414186:G:A 80781_64972_21658_P->S 275 chr2:179426079:T:G 80781_57585_19195_E->D 275 chr2:179439884:C:T 80781_43780_14594_G->S 275 chr2:179442784:C:G 80781_41263_13755_A->P 275 chr2:179446300:A:T 80781_39500_13167_V->E 275 chr2:179447901:C:A 80781_38434_12812_A->S 275 chr2:179452695:C:T 80781_36244_12082_A->T 275 chr2:179458477:A:G 80781_31355_10452_I->T 275 chr2:179463490:C:T 80781_29752_9918_A->T 275 chr2:179466511:C:T 80781_28111_9371_E->K 275 chr2:179477195:T:C 80781_22862_7621_Y->C 275 chr2:179485846:G:C 80781_18404_6135_A->G 275 chr2:179506964:C:G 80781_13363_4455_V->L 275 chr2:179506964:C:G 80781_13363_4455_V->L 275 chr2:179602841:C:T 80781_13250_4417_S->N 275 chr2:179603039:C:T 80781_13052_4351_G->D 275 chr2:179603970:C:T 80781_12901_4301_D->N 275 chr2:179605613:G:T 80781_11258_3753_S->Y 275 chr2:179634621:G:A 80781_8549_2850_T->I 275 chr2:179635998:T:C 80781_7918_2640_I->V 275 chr2:179635998:T:C 80781_7918_2640_I->V 275 chr2:179638834:C:T 80781_6923_2308_R->H 275 chr2:179641014:C:A 80781_5439_1813_R->S 275 chr2:179647533:C:T 80781_2962_988_V->M 275 chr2:179647707:A:G 80781_2788_930_W->R 275 chr2:179650717:G:A 80781_2090_697_A->V 275 chr2:179650726:C:A 80781_2081_694_R->L 275 chr2:179667000:C:T 80781_160_54_V->M 275 oneKG Variants: 275 chr2:179393524:G:A 80781_79759_26587_R->* 0.000199681 275 chr2:179404241:G:A 80781_71356_23786_R->* 0.000199681 275 chr2:179411199:A:C 80781_67664_22555_L->* 0.000199681 275 chr2:179412199:G:C 80781_66959_22320_S->* 0.000199681 275 chr2:179429372:C:A 80781_54292_18098_E->* 0.000199681 275 chr2:179429538:G:T 80781_54126_18042_Y->* 0.00219649 275 chr2:179433674:T:A 80781_49990_16664_K->* 0.000199681 275 chr2:179434205:G:A 80781_49459_16487_R->* 0.000199681 275 chr2:179444429:G:A 80781_40300_13434_R->* 0.000199681 275 chr2:179455726:A:T 80781_33531_11177_Y->* 0.000199681 275 chr2:179478953:G:A 80781_21976_7326_R->* 0.000199681 275 chr2:179494977:G:A 80781_17077_5693_R->* 0.000199681 275 chr2:179391749:C:T 80781_80771_26924_R->Q 0.000199681 275 chr2:179391819:C:T 80781_80701_26901_G->S 0.000199681 275 chr2:179391921:A:T 80781_80599_26867_C->S 0.000199681 275 chr2:179391962:C:T 80781_80558_26853_C->Y 0.000399361 275 chr2:179391987:C:T 80781_80533_26845_E->K 0.000199681 275 chr2:179392248:T:C 80781_80410_26804_S->G 0.000399361 275 chr2:179392277:A:G 80781_80381_26794_M->T 0.00219649 275 chr2:179392469:A:G 80781_80189_26730_V->A 0.000199681 275 chr2:179393111:A:G 80781_80072_26691_V->A 0.0920527 275 chr2:179393124:G:A 80781_80059_26687_R->C 0.000199681 275 chr2:179393148:T:C 80781_80035_26679_I->V 0.000199681 275 chr2:179393358:T:A 80781_79925_26642_Q->L 0.000199681 275 chr2:179393374:G:C 80781_79909_26637_P->A 0.000199681 275 chr2:179393389:C:G 80781_79894_26632_E->Q 0.000199681 275 chr2:179393469:C:G 80781_79814_26605_R->T 0.000399361 275 chr2:179393563:C:G 80781_79720_26574_V->L 0.000199681 275 chr2:179393602:A:C 80781_79681_26561_L->V 0.000599042 275 chr2:179393620:C:T 80781_79663_26555_E->K 0.000199681 275 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80781_5439_1813_R->S 0.000199681 275 chr2:179641029:T:A 80781_5424_1808_E->D 0.000199681 275 chr2:179641088:G:C 80781_5365_1789_Q->E 0.000199681 275 chr2:179641112:C:A 80781_5341_1781_A->S 0.000798722 275 chr2:179641121:G:A 80781_5332_1778_H->Y 0.000199681 275 chr2:179641327:T:C 80781_5126_1709_N->S 0.000199681 275 chr2:179641328:T:G 80781_5125_1709_N->H 0.000199681 275 chr2:179641336:C:T 80781_5117_1706_R->H 0.000199681 275 chr2:179641360:G:A 80781_5093_1698_P->L 0.00698882 275 chr2:179641505:C:T 80781_4948_1650_D->N 0.000199681 275 chr2:179641543:C:T 80781_4910_1637_R->Q 0.000199681 275 chr2:179641624:G:A 80781_4829_1610_P->L 0.000199681 275 chr2:179641717:G:C 80781_4736_1579_S->C 0.000199681 275 chr2:179641951:G:A 80781_4601_1534_T->M 0.00559105 275 chr2:179641975:C:T 80781_4577_1526_R->Q 0.0752796 275 chr2:179641981:C:G 80781_4571_1524_G->A 0.000399361 275 chr2:179642015:C:T 80781_4537_1513_V->I 0.000199681 275 chr2:179642019:C:T 80781_4533_1511_M->I 0.000199681 275 chr2:179642023:G:A 80781_4529_1510_P->L 0.000199681 275 chr2:179642162:T:C 80781_4492_1498_I->V 0.0119808 275 chr2:179642257:G:A 80781_4397_1466_T->I 0.000399361 275 chr2:179642448:G:A 80781_4325_1442_T->M 0.000199681 275 chr2:179642462:T:A 80781_4311_1437_R->S 0.000199681 275 chr2:179642475:T:C 80781_4298_1433_K->R 0.000199681 275 chr2:179642482:C:G 80781_4291_1431_D->H 0.000199681 275 chr2:179642515:A:G 80781_4258_1420_F->L 0.000399361 275 chr2:179642552:T:A 80781_4221_1407_R->S 0.00139776 275 chr2:179642583:A:G 80781_4190_1397_L->P 0.00379393 275 chr2:179642589:C:G,T 80781_4184_1395_R->P 0.0103834 275 chr2:179642589:C:G,T 80781_4184_1395_R->H 0.0103834 275 chr2:179642620:G:A 80781_4153_1385_R->W 0.000199681 275 chr2:179642622:G:T 80781_4151_1384_A->E 0.000798722 275 chr2:179642650:G:A 80781_4123_1375_R->W 0.000599042 275 chr2:179642665:G:A 80781_4108_1370_R->C 0.0147764 275 chr2:179642683:C:G 80781_4090_1364_V->L 0.000199681 275 chr2:179643601:C:G 80781_4070_1357_R->T 0.00179712 275 chr2:179643610:C:G 80781_4061_1354_S->T 0.00139776 275 chr2:179643632:T:C 80781_4039_1347_I->V 0.0391374 275 chr2:179643640:G:A 80781_4031_1344_P->L 0.000199681 275 chr2:179643649:A:G 80781_4022_1341_L->P 0.000399361 275 chr2:179643760:C:T 80781_3911_1304_R->H 0.000199681 275 chr2:179643761:G:A 80781_3910_1304_R->C 0.000199681 275 chr2:179643775:C:T 80781_3896_1299_G->D 0.00379393 275 chr2:179643842:C:A 80781_3829_1277_A->S 0.000199681 275 chr2:179643964:A:T 80781_3817_1273_L->I 0.000599042 275 chr2:179644020:T:C 80781_3761_1254_Y->C 0.000199681 275 chr2:179644035:G:A 80781_3746_1249_S->L 0.079872 275 chr2:179644047:G:A 80781_3734_1245_S->L 0.000199681 275 chr2:179644084:T:A 80781_3697_1233_M->L 0.000199681 275 chr2:179644761:T:A 80781_3557_1186_D->V 0.000399361 275 chr2:179644776:T:G 80781_3542_1181_K->T 0.000199681 275 chr2:179644788:G:A 80781_3530_1177_A->V 0.00379393 275 chr2:179644837:G:T 80781_3481_1161_P->T 0.000199681 275 chr2:179644840:C:A 80781_3478_1160_A->S 0.000199681 275 chr2:179644848:C:G 80781_3470_1157_G->A 0.000199681 275 chr2:179644855:T:C 80781_3463_1155_K->E 0.4998 275 chr2:179645848:C:T 80781_3385_1129_A->T 0.000399361 275 chr2:179645926:C:T 80781_3307_1103_D->N 0.000199681 275 chr2:179645962:C:G 80781_3271_1091_G->R 0.000998403 275 chr2:179645968:G:C 80781_3265_1089_Q->E 0.000199681 275 chr2:179645985:T:C 80781_3248_1083_K->R 0.000399361 275 chr2:179646984:T:A 80781_3197_1066_H->L 0.000199681 275 chr2:179647077:G:A 80781_3104_1035_A->V 0.000199681 275 chr2:179647078:C:T 80781_3103_1035_A->T 0.000599042 275 chr2:179647149:A:G 80781_3032_1011_V->A 0.000599042 275 chr2:179647297:C:T 80781_2995_999_V->M 0.000199681 275 chr2:179647533:C:T 80781_2962_988_V->M 0.000399361 275 chr2:179647635:G:A 80781_2860_954_L->F 0.000199681 275 chr2:179647718:G:A 80781_2777_926_P->L 0.000199681 275 chr2:179648460:G:A 80781_2690_897_P->L 0.000199681 275 chr2:179648805:C:T 80781_2629_877_E->K 0.000199681 275 chr2:179648807:C:T 80781_2627_876_R->H 0.00319489 275 chr2:179648808:G:A 80781_2626_876_R->C 0.00179712 275 chr2:179648829:G:A 80781_2605_869_R->C 0.000199681 275 chr2:179648883:C:G 80781_2551_851_E->Q 0.000199681 275 chr2:179648886:C:T 80781_2548_850_V->I 0.000599042 275 chr2:179648901:T:C 80781_2533_845_K->E 0.000199681 275 chr2:179648954:G:A 80781_2480_827_A->V 0.000199681 275 chr2:179648967:T:A 80781_2467_823_T->S 0.000199681 275 chr2:179648978:T:G 80781_2456_819_K->T 0.000199681 275 chr2:179650408:G:A 80781_2294_765_T->I 0.100439 275 chr2:179650414:G:C 80781_2288_763_P->R 0.000199681 275 chr2:179650418:G:A 80781_2284_762_R->C 0.000199681 275 chr2:179650444:G:A 80781_2258_753_T->M 0.000798722 275 chr2:179650635:C:A 80781_2172_724_Q->H 0.000798722 275 chr2:179650675:G:A 80781_2132_711_P->L 0.00479233 275 chr2:179650681:G:A 80781_2126_709_S->L 0.000798722 275 chr2:179650690:C:T 80781_2117_706_R->H 0.000199681 275 chr2:179650715:C:T 80781_2092_698_A->T 0.00119808 275 chr2:179650727:G:T 80781_2080_694_R->S 0.000199681 275 chr2:179654121:G:T 80781_1904_635_T->N 0.0644968 275 chr2:179654136:C:A 80781_1889_630_R->I 0.000199681 275 chr2:179654141:T:G 80781_1884_628_R->S 0.000399361 275 chr2:179654220:C:G 80781_1805_602_R->T 0.000199681 275 chr2:179656876:C:T 80781_1585_529_A->T 0.000399361 275 chr2:179658145:C:T 80781_1522_508_V->I 0.000199681 275 chr2:179658175:C:T 80781_1492_498_V->I 0.00758786 275 chr2:179659191:C:T 80781_1333_445_A->T 0.000399361 275 chr2:179659199:A:G 80781_1325_442_V->A 0.000199681 275 chr2:179659200:C:T 80781_1324_442_V->M 0.000399361 275 chr2:179659227:C:T 80781_1297_433_V->I 0.000798722 275 chr2:179659681:C:T 80781_1213_405_A->T 0.000199681 275 chr2:179659722:G:A 80781_1172_391_A->V 0.000199681 275 chr2:179659795:A:G 80781_1099_367_S->P 0.000199681 275 chr2:179659815:C:G 80781_1079_360_R->T 0.0119808 275 chr2:179659845:T:C 80781_1049_350_Y->C 0.000199681 275 chr2:179659891:C:T 80781_1003_335_V->M 0.0139776 275 chr2:179659912:G:A 80781_982_328_R->C 0.236022 275 chr2:179659924:G:A 80781_970_324_P->S 0.00159744 275 chr2:179659928:C:A 80781_966_322_R->S 0.000199681 275 chr2:179664442:A:G 80781_686_229_F->S 0.000199681 275 chr2:179665163:C:T 80781_542_181_S->N 0.0181709 275 chr2:179665166:T:C 80781_539_180_N->S 0.000399361 275 chr2:179665220:A:T 80781_485_162_L->Q 0.000199681 275 chr2:179665308:G:A 80781_397_133_P->S 0.000199681 275 chr2:179665358:C:G 80781_347_116_R->T 0.000199681 275 chr2:179665362:C:T 80781_343_115_V->M 0.000399361 275 chr2:179666871:C:T 80781_289_97_V->M 0.00119808 275 chr2:179666982:C:A 80781_178_60_D->Y 0.0289537 275 chr2:179667000:C:T 80781_160_54_V->M 0.000599042 275 chr2:179667003:C:T 80781_157_53_G->S 0.000199681 275 chr2:179667015:A:G 80781_145_49_S->P 0.000199681 275 chr2:179669327:C:T 80781_43_15_V->I 0.000199681 275 chr2:179669357:C:T 80781_13_5_A->T 0.000199681 275 na12878 Variants: 275 chr2:179396766:C:T 80781_77381_25794_R->Q 275 chr2:179432185:A:G 80781_51479_17160_I->T 275 chr2:179629461:C:T 80781_9643_3215_V->M 275 chr2:179644035:G:A 80781_3746_1249_S->L 275 chr2:179644855:T:C 80781_3463_1155_K->E 275 chr2:179623758:C:T 80781_10118_3373_S->N 275 snyder Variants: 275 chr2:179432185:A:G 80781_51479_17160_I->T 275 chr2:179438480:C:T 80781_45184_15062_E->K 275 chr2:179448393:G:A 80781_38321_12774_A->V 275 chr2:179449131:G:A 80781_37952_12651_S->L 275 chr2:179606288:G:A 80781_10583_3528_T->I 275 chr2:179629461:C:T 80781_9643_3215_V->M 275 chr2:179644035:G:A 80781_3746_1249_S->L 275 chr2:179644855:T:C 80781_3463_1155_K->E 275 chr2:179623758:C:T 80781_10118_3373_S->N 276 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000589042 gene_Name: TITIN_HUMAN 276 list of pdbs: 276 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 276 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 276 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 276 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 276 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 276 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 276 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 276 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 276 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 276 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 276 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 276 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 276 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 276 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 276 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 276 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 276 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 276 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 276 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 276 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 276 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 276 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 276 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 276 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 276 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 276 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 276 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 276 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 276 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 276 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 276 Zimmer Variants: 276 chr2:179397561:C:T 107976_103781_34594_R->H 276 chr2:179406191:C:T 107976_97613_32538_R->H 276 chr2:179427536:T:C 107976_83323_27775_I->V 276 chr2:179430997:G:A 107976_79862_26621_T->M 276 chr2:179432185:A:G 107976_78674_26225_I->T 276 chr2:179436020:G:A 107976_74839_24947_R->C 276 chr2:179444939:C:T 107976_67075_22359_V->I 276 chr2:179457147:G:A 107976_59585_19862_P->L 276 chr2:179458591:C:T 107976_58436_19479_R->H 276 chr2:179464527:T:C 107976_56101_18701_N->D 276 chr2:179472223:A:G 107976_53192_17731_I->T 276 chr2:179554305:C:T 107976_31864_10622_G->R 276 chr2:179558366:T:C 107976_31564_10522_I->V 276 chr2:179620951:C:T 107976_11252_3751_G->D;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 276 chr2:179629461:C:T 107976_9781_3261_V->M 276 chr2:179634421:T:G 107976_8887_2963_T->P 276 chr2:179644035:G:A 107976_3884_1295_S->L 276 chr2:179644855:T:C 107976_3601_1201_K->E 276 chr2:179421694:A:G 107976_88187_29396_I->T 276 chr2:179545859:C:T 107976_33287_11096_R->H 276 chr2:179621477:C:T 107976_10726_3576_A->T;HUB=PHOS&PPI;GENE=TTN;CDSS=2;DBRECUR=TTN 276 chr2:179623758:C:T 107976_10256_3419_S->N 276 HGMD Variants: 276 chr2:179391825:G:A 107976_107890_35964_Q->* 276 chr2:179395510:G:A 107976_105832_35278_Q->* 276 chr2:179397250:G:A 107976_104092_34698_R->* 276 chr2:179398393:G:A 107976_102949_34317_Q->* 276 chr2:179398819:G:A 107976_102523_34175_R->* 276 chr2:179400115:G:A 107976_101227_33743_R->* 276 chr2:179401029:G:T 107976_100445_33482_S->* 276 chr2:179403522:T:A 107976_99034_33012_K->* 276 chr2:179404286:G:A 107976_98506_32836_R->* 276 chr2:179410799:G:A 107976_95164_31722_Q->* 276 chr2:179412902:C:A 107976_93451_31151_E->* 276 chr2:179413187:G:A 107976_93166_31056_R->* 276 chr2:179413477:C:T 107976_92876_30959_W->* 276 chr2:179422457:G:T 107976_87624_29208_Y->* 276 chr2:179423146:G:A 107976_87040_29014_R->* 276 chr2:179424496:C:T 107976_86363_28788_W->* 276 chr2:179424890:T:A 107976_85969_28657_K->* 276 chr2:179425091:G:A 107976_85768_28590_R->* 276 chr2:179426040:C:T 107976_84819_28273_W->* 276 chr2:179428202:C:A 107976_82657_27553_G->* 276 chr2:179428871:G:A 107976_81988_27330_Q->* 276 chr2:179429822:G:A 107976_81037_27013_R->* 276 chr2:179433095:G:A 107976_77764_25922_Q->* 276 chr2:179440999:C:T 107976_69860_23287_W->* 276 chr2:179444429:G:A 107976_67495_22499_R->* 276 chr2:179447693:G:C 107976_65837_21946_S->* 276 chr2:179452435:G:A 107976_63601_21201_R->* 276 chr2:179454576:G:A 107976_61876_20626_R->* 276 chr2:179454957:G:A 107976_61495_20499_R->* 276 chr2:179455162:A:T 107976_61290_20430_C->* 276 chr2:179456553:C:T 107976_59993_19998_W->* 276 chr2:179458850:C:A 107976_58270_19424_E->* 276 chr2:179460363:G:A 107976_57718_19240_R->* 276 chr2:179462478:G:A 107976_57331_19111_R->* 276 chr2:179463631:G:A 107976_56806_18936_R->* 276 chr2:179469904:C:T 107976_54000_18000_W->* 276 chr2:179470369:C:A 107976_53653_17885_E->* 276 chr2:179471841:C:A 107976_53488_17830_G->* 276 chr2:179481235:G:A 107976_48283_16095_R->* 276 chr2:179483495:G:T 107976_46782_15594_Y->* 276 chr2:179483504:A:T 107976_46773_15591_Y->* 276 chr2:179485012:G:T 107976_46236_15412_C->* 276 chr2:179485878:G:T 107976_45567_15189_Y->* 276 chr2:179486244:G:A 107976_45307_15103_R->* 276 chr2:179505980:T:A 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276 chr2:179659681:C:T 107976_1213_405_A->T 0.000199681 276 chr2:179659722:G:A 107976_1172_391_A->V 0.000199681 276 chr2:179659795:A:G 107976_1099_367_S->P 0.000199681 276 chr2:179659815:C:G 107976_1079_360_R->T 0.0119808 276 chr2:179659845:T:C 107976_1049_350_Y->C 0.000199681 276 chr2:179659891:C:T 107976_1003_335_V->M 0.0139776 276 chr2:179659912:G:A 107976_982_328_R->C 0.236022 276 chr2:179659924:G:A 107976_970_324_P->S 0.00159744 276 chr2:179659928:C:A 107976_966_322_R->S 0.000199681 276 chr2:179664442:A:G 107976_686_229_F->S 0.000199681 276 chr2:179665163:C:T 107976_542_181_S->N 0.0181709 276 chr2:179665166:T:C 107976_539_180_N->S 0.000399361 276 chr2:179665220:A:T 107976_485_162_L->Q 0.000199681 276 chr2:179665308:G:A 107976_397_133_P->S 0.000199681 276 chr2:179665358:C:G 107976_347_116_R->T 0.000199681 276 chr2:179665362:C:T 107976_343_115_V->M 0.000399361 276 chr2:179666871:C:T 107976_289_97_V->M 0.00119808 276 chr2:179666982:C:A 107976_178_60_D->Y 0.0289537 276 chr2:179667000:C:T 107976_160_54_V->M 0.000599042 276 chr2:179667003:C:T 107976_157_53_G->S 0.000199681 276 chr2:179667015:A:G 107976_145_49_S->P 0.000199681 276 chr2:179669327:C:T 107976_43_15_V->I 0.000199681 276 chr2:179669357:C:T 107976_13_5_A->T 0.000199681 276 na12878 Variants: 276 chr2:179396766:C:T 107976_104576_34859_R->Q 276 chr2:179432185:A:G 107976_78674_26225_I->T 276 chr2:179554305:C:T 107976_31864_10622_G->R 276 chr2:179620951:C:T 107976_11252_3751_G->D 276 chr2:179629461:C:T 107976_9781_3261_V->M 276 chr2:179644035:G:A 107976_3884_1295_S->L 276 chr2:179644855:T:C 107976_3601_1201_K->E 276 chr2:179545859:C:T 107976_33287_11096_R->H 276 chr2:179621477:C:T 107976_10726_3576_A->T 276 chr2:179623758:C:T 107976_10256_3419_S->N 276 snyder Variants: 276 chr2:179432185:A:G 107976_78674_26225_I->T 276 chr2:179438480:C:T 107976_72379_24127_E->K 276 chr2:179448393:G:A 107976_65516_21839_A->V 276 chr2:179449131:G:A 107976_65147_21716_S->L 276 chr2:179554305:C:T 107976_31864_10622_G->R 276 chr2:179556748:G:T 107976_31757_10586_P->Q 276 chr2:179587955:G:T 107976_21779_7260_S->Y 276 chr2:179588159:C:T 107976_21668_7223_R->H 276 chr2:179595372:T:C 107976_17888_5963_E->G 276 chr2:179606288:G:A 107976_11672_3891_T->I 276 chr2:179620951:C:T 107976_11252_3751_G->D 276 chr2:179629461:C:T 107976_9781_3261_V->M 276 chr2:179644035:G:A 107976_3884_1295_S->L 276 chr2:179644855:T:C 107976_3601_1201_K->E 276 chr2:179545859:C:T 107976_33287_11096_R->H 276 chr2:179621477:C:T 107976_10726_3576_A->T 276 chr2:179623758:C:T 107976_10256_3419_S->N 277 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000591111 gene_Name: TITIN_HUMAN 277 list of pdbs: 277 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 277 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 277 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 277 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 277 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 277 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 277 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 277 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 277 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 277 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 277 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 277 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 277 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 277 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 277 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 277 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 277 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 277 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 277 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 277 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 277 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 277 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 277 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 277 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 277 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 277 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 277 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 277 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 277 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 277 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 277 Zimmer Variants: 277 chr2:179397561:C:T 103053_98858_32953_R->H;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179406191:C:T 103053_92690_30897_R->H;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179427536:T:C 103053_78400_26134_I->V;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179430997:G:A 103053_74939_24980_T->M;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179432185:A:G 103053_73751_24584_I->T;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179436020:G:A 103053_69916_23306_R->C;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179444939:C:T 103053_62152_20718_V->I;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179457147:G:A 103053_54662_18221_P->L;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179458591:C:T 103053_53513_17838_R->H;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179464527:T:C 103053_51178_17060_N->D;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179472223:A:G 103053_48269_16090_I->T;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179554305:C:T 103053_30913_10305_G->R;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179558366:T:C 103053_30613_10205_I->V;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 277 chr2:179629461:C:T 103053_9781_3261_V->M 277 chr2:179634421:T:G 103053_8887_2963_T->P 277 chr2:179644035:G:A 103053_3884_1295_S->L 277 chr2:179644855:T:C 103053_3601_1201_K->E 277 chr2:179421694:A:G 103053_83264_27755_I->T;HUB=PHOS&PPI;GENE=TTN;CDSS=2;DBRECUR=TTN 277 chr2:179545859:C:T 103053_32336_10779_R->H;HUB=PHOS&PPI;GENE=TTN;CDSS=2;DBRECUR=TTN 277 chr2:179623758:C:T 103053_10256_3419_S->N 277 HGMD Variants: 277 chr2:179391825:G:A 103053_102967_34323_Q->* 277 chr2:179395510:G:A 103053_100909_33637_Q->* 277 chr2:179397250:G:A 103053_99169_33057_R->* 277 chr2:179398393:G:A 103053_98026_32676_Q->* 277 chr2:179398819:G:A 103053_97600_32534_R->* 277 chr2:179400115:G:A 103053_96304_32102_R->* 277 chr2:179401029:G:T 103053_95522_31841_S->* 277 chr2:179403522:T:A 103053_94111_31371_K->* 277 chr2:179404286:G:A 103053_93583_31195_R->* 277 chr2:179410799:G:A 103053_90241_30081_Q->* 277 chr2:179412902:C:A 103053_88528_29510_E->* 277 chr2:179413187:G:A 103053_88243_29415_R->* 277 chr2:179413477:C:T 103053_87953_29318_W->* 277 chr2:179422457:G:T 103053_82701_27567_Y->* 277 chr2:179423146:G:A 103053_82117_27373_R->* 277 chr2:179424496:C:T 103053_81440_27147_W->* 277 chr2:179424890:T:A 103053_81046_27016_K->* 277 chr2:179425091:G:A 103053_80845_26949_R->* 277 chr2:179426040:C:T 103053_79896_26632_W->* 277 chr2:179428202:C:A 103053_77734_25912_G->* 277 chr2:179428871:G:A 103053_77065_25689_Q->* 277 chr2:179429822:G:A 103053_76114_25372_R->* 277 chr2:179433095:G:A 103053_72841_24281_Q->* 277 chr2:179440999:C:T 103053_64937_21646_W->* 277 chr2:179444429:G:A 103053_62572_20858_R->* 277 chr2:179447693:G:C 103053_60914_20305_S->* 277 chr2:179452435:G:A 103053_58678_19560_R->* 277 chr2:179454576:G:A 103053_56953_18985_R->* 277 chr2:179454957:G:A 103053_56572_18858_R->* 277 chr2:179455162:A:T 103053_56367_18789_C->* 277 chr2:179456553:C:T 103053_55070_18357_W->* 277 chr2:179458850:C:A 103053_53347_17783_E->* 277 chr2:179460363:G:A 103053_52795_17599_R->* 277 chr2:179462478:G:A 103053_52408_17470_R->* 277 chr2:179463631:G:A 103053_51883_17295_R->* 277 chr2:179469904:C:T 103053_49077_16359_W->* 277 chr2:179470369:C:A 103053_48730_16244_E->* 277 chr2:179471841:C:A 103053_48565_16189_G->* 277 chr2:179481235:G:A 103053_43360_14454_R->* 277 chr2:179483495:G:T 103053_41859_13953_Y->* 277 chr2:179483504:A:T 103053_41850_13950_Y->* 277 chr2:179485012:G:T 103053_41313_13771_C->* 277 chr2:179485878:G:T 103053_40644_13548_Y->* 277 chr2:179486244:G:A 103053_40384_13462_R->* 277 chr2:179505980:T:A 103053_35698_11900_K->* 277 chr2:179604264:G:A 103053_12745_4249_Q->* 277 chr2:179604852:G:A 103053_12157_4053_Q->* 277 chr2:179605373:G:T 103053_11636_3879_S->* 277 chr2:179605752:C:A 103053_11257_3753_E->* 277 chr2:179647599:G:A 103053_3034_1012_R->* 277 chr2:179391848:A:G 103053_102944_34315_L->P 277 chr2:179391875:A:T 103053_102917_34306_I->N 277 chr2:179391878:T:G 103053_102914_34305_H->P 277 chr2:179392277:A:G 103053_102653_34218_M->T 277 chr2:179395188:T:G 103053_101231_33744_K->T 277 chr2:179397432:C:T 103053_98987_32996_R->Q 277 chr2:179397654:A:G 103053_98765_32922_V->A 277 chr2:179399071:G:A 103053_97348_32450_R->W 277 chr2:179399128:A:G 103053_97291_32431_W->R 277 chr2:179401230:G:A 103053_95321_31774_P->L 277 chr2:179407285:G:T 103053_92275_30759_P->T 277 chr2:179410591:C:A 103053_90449_30150_G->V 277 chr2:179410591:C:T 103053_90449_30150_G->D 277 chr2:179410592:C:G 103053_90448_30150_G->R 277 chr2:179410605:G:C 103053_90435_30145_N->K 277 chr2:179410768:G:A 103053_90272_30091_P->L 277 chr2:179410768:G:A 103053_90272_30091_P->L 277 chr2:179410776:C:G 103053_90264_30088_W->C 277 chr2:179410777:C:A 103053_90263_30088_W->L 277 chr2:179410778:A:G 103053_90262_30088_W->R 277 chr2:179410828:C:T 103053_90212_30071_C->Y 277 chr2:179410829:A:G 103053_90211_30071_C->R 277 chr2:179410829:A:G 103053_90211_30071_C->R 277 chr2:179410837:G:C 103053_90203_30068_P->R 277 chr2:179410837:G:C 103053_90203_30068_P->R 277 chr2:179410975:C:T 103053_90160_30054_G->R 277 chr2:179412679:A:G 103053_88751_29584_I->T 277 chr2:179414186:G:A 103053_87244_29082_P->S 277 chr2:179426079:T:G 103053_79857_26619_E->D 277 chr2:179439884:C:T 103053_66052_22018_G->S 277 chr2:179442784:C:G 103053_63535_21179_A->P 277 chr2:179446300:A:T 103053_61772_20591_V->E 277 chr2:179447901:C:A 103053_60706_20236_A->S 277 chr2:179452695:C:T 103053_58516_19506_A->T 277 chr2:179458477:A:G 103053_53627_17876_I->T 277 chr2:179463490:C:T 103053_52024_17342_A->T 277 chr2:179466511:C:T 103053_50383_16795_E->K 277 chr2:179477195:T:C 103053_45134_15045_Y->C 277 chr2:179485846:G:C 103053_40676_13559_A->G 277 chr2:179506964:C:G 103053_35635_11879_V->L 277 chr2:179506964:C:G 103053_35635_11879_V->L 277 chr2:179567340:G:A 103053_29323_9775_H->Y 277 chr2:179569962:C:T 103053_28592_9531_R->Q 277 chr2:179570033:C:A 103053_28521_9507_M->I 277 chr2:179571370:C:T 103053_28280_9427_R->H 277 chr2:179576733:T:C 103053_26873_8958_Y->C 277 chr2:179587773:C:T 103053_21010_7004_E->K 277 chr2:179590188:C:A 103053_19792_6598_A->S 277 chr2:179593110:G:T 103053_18490_6164_P->T 277 chr2:179594832:G:A 103053_17344_5782_L->F 277 chr2:179599667:G:C 103053_14033_4678_P->R 277 chr2:179602841:C:T 103053_13388_4463_S->N 277 chr2:179603039:C:T 103053_13190_4397_G->D 277 chr2:179603970:C:T 103053_13039_4347_D->N 277 chr2:179605613:G:T 103053_11396_3799_S->Y 277 chr2:179634621:G:A 103053_8687_2896_T->I 277 chr2:179635998:T:C 103053_8056_2686_I->V 277 chr2:179635998:T:C 103053_8056_2686_I->V 277 chr2:179638834:C:T 103053_7061_2354_R->H 277 chr2:179641014:C:A 103053_5577_1859_R->S 277 chr2:179647533:C:T 103053_3100_1034_V->M 277 chr2:179647707:A:G 103053_2926_976_W->R 277 chr2:179650717:G:A 103053_2228_743_A->V 277 chr2:179650726:C:A 103053_2219_740_R->L 277 chr2:179667000:C:T 103053_160_54_V->M 277 oneKG Variants: 277 chr2:179393524:G:A 103053_102031_34011_R->* 0.000199681 277 chr2:179404241:G:A 103053_93628_31210_R->* 0.000199681 277 chr2:179411199:A:C 103053_89936_29979_L->* 0.000199681 277 chr2:179412199:G:C 103053_89231_29744_S->* 0.000199681 277 chr2:179429372:C:A 103053_76564_25522_E->* 0.000199681 277 chr2:179429538:G:T 103053_76398_25466_Y->* 0.00219649 277 chr2:179433674:T:A 103053_72262_24088_K->* 0.000199681 277 chr2:179434205:G:A 103053_71731_23911_R->* 0.000199681 277 chr2:179444429:G:A 103053_62572_20858_R->* 0.000199681 277 chr2:179455726:A:T 103053_55803_18601_Y->* 0.000199681 277 chr2:179478953:G:A 103053_44248_14750_R->* 0.000199681 277 chr2:179494977:G:A 103053_39349_13117_R->* 0.000199681 277 chr2:179588868:G:A 103053_20167_6723_R->* 0.000199681 277 chr2:179391749:C:T 103053_103043_34348_R->Q 0.000199681 277 chr2:179391819:C:T 103053_102973_34325_G->S 0.000199681 277 chr2:179391921:A:T 103053_102871_34291_C->S 0.000199681 277 chr2:179391962:C:T 103053_102830_34277_C->Y 0.000399361 277 chr2:179391987:C:T 103053_102805_34269_E->K 0.000199681 277 chr2:179392248:T:C 103053_102682_34228_S->G 0.000399361 277 chr2:179392277:A:G 103053_102653_34218_M->T 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chr2:179645926:C:T 103053_3445_1149_D->N 0.000199681 277 chr2:179645962:C:G 103053_3409_1137_G->R 0.000998403 277 chr2:179645968:G:C 103053_3403_1135_Q->E 0.000199681 277 chr2:179645985:T:C 103053_3386_1129_K->R 0.000399361 277 chr2:179646984:T:A 103053_3335_1112_H->L 0.000199681 277 chr2:179647077:G:A 103053_3242_1081_A->V 0.000199681 277 chr2:179647078:C:T 103053_3241_1081_A->T 0.000599042 277 chr2:179647149:A:G 103053_3170_1057_V->A 0.000599042 277 chr2:179647297:C:T 103053_3133_1045_V->M 0.000199681 277 chr2:179647533:C:T 103053_3100_1034_V->M 0.000399361 277 chr2:179647635:G:A 103053_2998_1000_L->F 0.000199681 277 chr2:179647718:G:A 103053_2915_972_P->L 0.000199681 277 chr2:179648460:G:A 103053_2828_943_P->L 0.000199681 277 chr2:179648805:C:T 103053_2767_923_E->K 0.000199681 277 chr2:179648807:C:T 103053_2765_922_R->H 0.00319489 277 chr2:179648808:G:A 103053_2764_922_R->C 0.00179712 277 chr2:179648829:G:A 103053_2743_915_R->C 0.000199681 277 chr2:179648883:C:G 103053_2689_897_E->Q 0.000199681 277 chr2:179648886:C:T 103053_2686_896_V->I 0.000599042 277 chr2:179648901:T:C 103053_2671_891_K->E 0.000199681 277 chr2:179648954:G:A 103053_2618_873_A->V 0.000199681 277 chr2:179648967:T:A 103053_2605_869_T->S 0.000199681 277 chr2:179648978:T:G 103053_2594_865_K->T 0.000199681 277 chr2:179650408:G:A 103053_2432_811_T->I 0.100439 277 chr2:179650414:G:C 103053_2426_809_P->R 0.000199681 277 chr2:179650418:G:A 103053_2422_808_R->C 0.000199681 277 chr2:179650444:G:A 103053_2396_799_T->M 0.000798722 277 chr2:179650635:C:A 103053_2310_770_Q->H 0.000798722 277 chr2:179650675:G:A 103053_2270_757_P->L 0.00479233 277 chr2:179650681:G:A 103053_2264_755_S->L 0.000798722 277 chr2:179650690:C:T 103053_2255_752_R->H 0.000199681 277 chr2:179650715:C:T 103053_2230_744_A->T 0.00119808 277 chr2:179650727:G:T 103053_2218_740_R->S 0.000199681 277 chr2:179654121:G:T 103053_2042_681_T->N 0.0644968 277 chr2:179654136:C:A 103053_2027_676_R->I 0.000199681 277 chr2:179654141:T:G 103053_2022_674_R->S 0.000399361 277 chr2:179654220:C:G 103053_1943_648_R->T 0.000199681 277 chr2:179655512:T:C 103053_1723_575_T->A 0.000199681 277 chr2:179655526:G:A 103053_1709_570_A->V 0.000998403 277 chr2:179656876:C:T 103053_1585_529_A->T 0.000399361 277 chr2:179658145:C:T 103053_1522_508_V->I 0.000199681 277 chr2:179658175:C:T 103053_1492_498_V->I 0.00758786 277 chr2:179659191:C:T 103053_1333_445_A->T 0.000399361 277 chr2:179659199:A:G 103053_1325_442_V->A 0.000199681 277 chr2:179659200:C:T 103053_1324_442_V->M 0.000399361 277 chr2:179659227:C:T 103053_1297_433_V->I 0.000798722 277 chr2:179659681:C:T 103053_1213_405_A->T 0.000199681 277 chr2:179659722:G:A 103053_1172_391_A->V 0.000199681 277 chr2:179659795:A:G 103053_1099_367_S->P 0.000199681 277 chr2:179659815:C:G 103053_1079_360_R->T 0.0119808 277 chr2:179659845:T:C 103053_1049_350_Y->C 0.000199681 277 chr2:179659891:C:T 103053_1003_335_V->M 0.0139776 277 chr2:179659912:G:A 103053_982_328_R->C 0.236022 277 chr2:179659924:G:A 103053_970_324_P->S 0.00159744 277 chr2:179659928:C:A 103053_966_322_R->S 0.000199681 277 chr2:179664442:A:G 103053_686_229_F->S 0.000199681 277 chr2:179665163:C:T 103053_542_181_S->N 0.0181709 277 chr2:179665166:T:C 103053_539_180_N->S 0.000399361 277 chr2:179665220:A:T 103053_485_162_L->Q 0.000199681 277 chr2:179665308:G:A 103053_397_133_P->S 0.000199681 277 chr2:179665358:C:G 103053_347_116_R->T 0.000199681 277 chr2:179665362:C:T 103053_343_115_V->M 0.000399361 277 chr2:179666871:C:T 103053_289_97_V->M 0.00119808 277 chr2:179666982:C:A 103053_178_60_D->Y 0.0289537 277 chr2:179667000:C:T 103053_160_54_V->M 0.000599042 277 chr2:179667003:C:T 103053_157_53_G->S 0.000199681 277 chr2:179667015:A:G 103053_145_49_S->P 0.000199681 277 chr2:179669327:C:T 103053_43_15_V->I 0.000199681 277 chr2:179669357:C:T 103053_13_5_A->T 0.000199681 277 na12878 Variants: 277 chr2:179396766:C:T 103053_99653_33218_R->Q 277 chr2:179432185:A:G 103053_73751_24584_I->T 277 chr2:179554305:C:T 103053_30913_10305_G->R 277 chr2:179629461:C:T 103053_9781_3261_V->M 277 chr2:179644035:G:A 103053_3884_1295_S->L 277 chr2:179644855:T:C 103053_3601_1201_K->E 277 chr2:179545859:C:T 103053_32336_10779_R->H 277 chr2:179623758:C:T 103053_10256_3419_S->N 277 snyder Variants: 277 chr2:179432185:A:G 103053_73751_24584_I->T 277 chr2:179438480:C:T 103053_67456_22486_E->K 277 chr2:179448393:G:A 103053_60593_20198_A->V 277 chr2:179449131:G:A 103053_60224_20075_S->L 277 chr2:179554305:C:T 103053_30913_10305_G->R 277 chr2:179556748:G:T 103053_30806_10269_P->Q 277 chr2:179587955:G:T 103053_20828_6943_S->Y 277 chr2:179588159:C:T 103053_20717_6906_R->H 277 chr2:179595372:T:C 103053_16937_5646_E->G 277 chr2:179606288:G:A 103053_10721_3574_T->I 277 chr2:179629461:C:T 103053_9781_3261_V->M 277 chr2:179644035:G:A 103053_3884_1295_S->L 277 chr2:179644855:T:C 103053_3601_1201_K->E 277 chr2:179545859:C:T 103053_32336_10779_R->H 277 chr2:179623758:C:T 103053_10256_3419_S->N 278 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000342175 gene_Name: TITIN_HUMAN 278 list of pdbs: 278 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 278 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 278 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 278 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 278 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 278 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 278 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 278 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 278 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 278 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 278 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 278 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 278 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 278 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 278 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 278 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 278 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 278 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 278 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 278 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 278 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 278 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 278 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 278 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 278 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 278 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 278 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 278 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 278 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 278 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 278 Zimmer Variants: 278 chr2:179397561:C:T 81357_77162_25721_R->H 278 chr2:179406191:C:T 81357_70994_23665_R->H 278 chr2:179427536:T:C 81357_56704_18902_I->V 278 chr2:179430997:G:A 81357_53243_17748_T->M 278 chr2:179432185:A:G 81357_52055_17352_I->T 278 chr2:179436020:G:A 81357_48220_16074_R->C 278 chr2:179444939:C:T 81357_40456_13486_V->I 278 chr2:179457147:G:A 81357_32966_10989_P->L 278 chr2:179458591:C:T 81357_31817_10606_R->H 278 chr2:179464527:T:C 81357_29482_9828_N->D 278 chr2:179472223:A:G 81357_26573_8858_I->T 278 chr2:179620951:C:T 81357_10739_3580_G->D 278 chr2:179629461:C:T 81357_9643_3215_V->M 278 chr2:179634421:T:G 81357_8749_2917_T->P 278 chr2:179644035:G:A 81357_3746_1249_S->L 278 chr2:179644855:T:C 81357_3463_1155_K->E 278 chr2:179421694:A:G 81357_61568_20523_I->T 278 chr2:179621477:C:T 81357_10213_3405_A->T 278 chr2:179623758:C:T 81357_10118_3373_S->N 278 HGMD Variants: 278 chr2:179391825:G:A 81357_81271_27091_Q->* 278 chr2:179395510:G:A 81357_79213_26405_Q->* 278 chr2:179397250:G:A 81357_77473_25825_R->* 278 chr2:179398393:G:A 81357_76330_25444_Q->* 278 chr2:179398819:G:A 81357_75904_25302_R->* 278 chr2:179400115:G:A 81357_74608_24870_R->* 278 chr2:179401029:G:T 81357_73826_24609_S->* 278 chr2:179403522:T:A 81357_72415_24139_K->* 278 chr2:179404286:G:A 81357_71887_23963_R->* 278 chr2:179410799:G:A 81357_68545_22849_Q->* 278 chr2:179412902:C:A 81357_66832_22278_E->* 278 chr2:179413187:G:A 81357_66547_22183_R->* 278 chr2:179413477:C:T 81357_66257_22086_W->* 278 chr2:179422457:G:T 81357_61005_20335_Y->* 278 chr2:179423146:G:A 81357_60421_20141_R->* 278 chr2:179424496:C:T 81357_59744_19915_W->* 278 chr2:179424890:T:A 81357_59350_19784_K->* 278 chr2:179425091:G:A 81357_59149_19717_R->* 278 chr2:179426040:C:T 81357_58200_19400_W->* 278 chr2:179428202:C:A 81357_56038_18680_G->* 278 chr2:179428871:G:A 81357_55369_18457_Q->* 278 chr2:179429822:G:A 81357_54418_18140_R->* 278 chr2:179433095:G:A 81357_51145_17049_Q->* 278 chr2:179440999:C:T 81357_43241_14414_W->* 278 chr2:179444429:G:A 81357_40876_13626_R->* 278 chr2:179447693:G:C 81357_39218_13073_S->* 278 chr2:179452435:G:A 81357_36982_12328_R->* 278 chr2:179454576:G:A 81357_35257_11753_R->* 278 chr2:179454957:G:A 81357_34876_11626_R->* 278 chr2:179455162:A:T 81357_34671_11557_C->* 278 chr2:179456553:C:T 81357_33374_11125_W->* 278 chr2:179458850:C:A 81357_31651_10551_E->* 278 chr2:179460363:G:A 81357_31099_10367_R->* 278 chr2:179462478:G:A 81357_30712_10238_R->* 278 chr2:179463631:G:A 81357_30187_10063_R->* 278 chr2:179469904:C:T 81357_27381_9127_W->* 278 chr2:179470369:C:A 81357_27034_9012_E->* 278 chr2:179471841:C:A 81357_26869_8957_G->* 278 chr2:179481235:G:A 81357_21664_7222_R->* 278 chr2:179483495:G:T 81357_20163_6721_Y->* 278 chr2:179483504:A:T 81357_20154_6718_Y->* 278 chr2:179485012:G:T 81357_19617_6539_C->* 278 chr2:179485878:G:T 81357_18948_6316_Y->* 278 chr2:179486244:G:A 81357_18688_6230_R->* 278 chr2:179505980:T:A 81357_14002_4668_K->* 278 chr2:179604264:G:A 81357_13183_4395_Q->* 278 chr2:179604852:G:A 81357_12595_4199_Q->* 278 chr2:179605373:G:T 81357_12074_4025_S->* 278 chr2:179605752:C:A 81357_11695_3899_E->* 278 chr2:179647599:G:A 81357_2896_966_R->* 278 chr2:179391848:A:G 81357_81248_27083_L->P 278 chr2:179391875:A:T 81357_81221_27074_I->N 278 chr2:179391878:T:G 81357_81218_27073_H->P 278 chr2:179392277:A:G 81357_80957_26986_M->T 278 chr2:179395188:T:G 81357_79535_26512_K->T 278 chr2:179397432:C:T 81357_77291_25764_R->Q 278 chr2:179397654:A:G 81357_77069_25690_V->A 278 chr2:179399071:G:A 81357_75652_25218_R->W 278 chr2:179399128:A:G 81357_75595_25199_W->R 278 chr2:179401230:G:A 81357_73625_24542_P->L 278 chr2:179407285:G:T 81357_70579_23527_P->T 278 chr2:179410591:C:A 81357_68753_22918_G->V 278 chr2:179410591:C:T 81357_68753_22918_G->D 278 chr2:179410592:C:G 81357_68752_22918_G->R 278 chr2:179410605:G:C 81357_68739_22913_N->K 278 chr2:179410768:G:A 81357_68576_22859_P->L 278 chr2:179410768:G:A 81357_68576_22859_P->L 278 chr2:179410776:C:G 81357_68568_22856_W->C 278 chr2:179410777:C:A 81357_68567_22856_W->L 278 chr2:179410778:A:G 81357_68566_22856_W->R 278 chr2:179410828:C:T 81357_68516_22839_C->Y 278 chr2:179410829:A:G 81357_68515_22839_C->R 278 chr2:179410829:A:G 81357_68515_22839_C->R 278 chr2:179410837:G:C 81357_68507_22836_P->R 278 chr2:179410837:G:C 81357_68507_22836_P->R 278 chr2:179410975:C:T 81357_68464_22822_G->R 278 chr2:179412679:A:G 81357_67055_22352_I->T 278 chr2:179414186:G:A 81357_65548_21850_P->S 278 chr2:179426079:T:G 81357_58161_19387_E->D 278 chr2:179439884:C:T 81357_44356_14786_G->S 278 chr2:179442784:C:G 81357_41839_13947_A->P 278 chr2:179446300:A:T 81357_40076_13359_V->E 278 chr2:179447901:C:A 81357_39010_13004_A->S 278 chr2:179452695:C:T 81357_36820_12274_A->T 278 chr2:179458477:A:G 81357_31931_10644_I->T 278 chr2:179463490:C:T 81357_30328_10110_A->T 278 chr2:179466511:C:T 81357_28687_9563_E->K 278 chr2:179477195:T:C 81357_23438_7813_Y->C 278 chr2:179485846:G:C 81357_18980_6327_A->G 278 chr2:179506964:C:G 81357_13939_4647_V->L 278 chr2:179506964:C:G 81357_13939_4647_V->L 278 chr2:179602841:C:T 81357_13826_4609_S->N 278 chr2:179603039:C:T 81357_13628_4543_G->D 278 chr2:179603970:C:T 81357_13477_4493_D->N 278 chr2:179605613:G:T 81357_11834_3945_S->Y 278 chr2:179634621:G:A 81357_8549_2850_T->I 278 chr2:179635998:T:C 81357_7918_2640_I->V 278 chr2:179635998:T:C 81357_7918_2640_I->V 278 chr2:179638834:C:T 81357_6923_2308_R->H 278 chr2:179641014:C:A 81357_5439_1813_R->S 278 chr2:179647533:C:T 81357_2962_988_V->M 278 chr2:179647707:A:G 81357_2788_930_W->R 278 chr2:179650717:G:A 81357_2090_697_A->V 278 chr2:179650726:C:A 81357_2081_694_R->L 278 chr2:179667000:C:T 81357_160_54_V->M 278 oneKG Variants: 278 chr2:179393524:G:A 81357_80335_26779_R->* 0.000199681 278 chr2:179404241:G:A 81357_71932_23978_R->* 0.000199681 278 chr2:179411199:A:C 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81357_7692_2564_M->I 0.0754792 278 chr2:179637933:T:C 81357_7620_2540_I->M 0.000798722 278 chr2:179637951:A:C 81357_7602_2534_I->M 0.00359425 278 chr2:179637980:C:T 81357_7573_2525_E->K 0.00119808 278 chr2:179638246:C:G 81357_7399_2467_G->R 0.000399361 278 chr2:179638249:C:T 81357_7396_2466_E->K 0.000199681 278 chr2:179638314:C:A 81357_7331_2444_R->L 0.000199681 278 chr2:179638441:T:C 81357_7204_2402_I->V 0.000399361 278 chr2:179638601:G:A 81357_7156_2386_L->F 0.000199681 278 chr2:179638715:C:G 81357_7042_2348_E->Q 0.000199681 278 chr2:179638721:C:T 81357_7036_2346_G->S 0.0874601 278 chr2:179638834:C:T 81357_6923_2308_R->H 0.00279553 278 chr2:179638835:G:A 81357_6922_2308_R->C 0.000798722 278 chr2:179639064:A:T 81357_6789_2263_N->K 0.000199681 278 chr2:179639068:G:T 81357_6785_2262_S->Y 0.000199681 278 chr2:179639156:G:C 81357_6697_2233_P->A 0.000599042 278 chr2:179639711:C:A 81357_6589_2197_D->Y 0.00838658 278 chr2:179639725:G:C 81357_6575_2192_T->R 0.000199681 278 chr2:179639737:A:G 81357_6563_2188_L->P 0.000199681 278 chr2:179639753:G:A 81357_6547_2183_H->Y 0.000199681 278 chr2:179639770:T:A 81357_6530_2177_H->L 0.000399361 278 chr2:179639924:G:T 81357_6376_2126_Q->K 0.000399361 278 chr2:179640113:T:C 81357_6340_2114_T->A 0.000199681 278 chr2:179640152:C:T 81357_6301_2101_A->T 0.000199681 278 chr2:179640214:C:A 81357_6239_2080_W->L 0.000199681 278 chr2:179640223:C:A 81357_6230_2077_R->L 0.000199681 278 chr2:179640232:C:A 81357_6221_2074_R->L 0.000998403 278 chr2:179640233:G:A 81357_6220_2074_R->W 0.000199681 278 chr2:179640238:A:G 81357_6215_2072_I->T 0.00419329 278 chr2:179640277:G:C 81357_6176_2059_P->R 0.000199681 278 chr2:179640298:C:T 81357_6155_2052_R->Q 0.000199681 278 chr2:179640463:T:C 81357_5990_1997_K->R 0.000199681 278 chr2:179640550:G:A 81357_5903_1968_T->I 0.000399361 278 chr2:179640551:T:C 81357_5902_1968_T->A 0.000599042 278 chr2:179640598:C:T 81357_5855_1952_R->H 0.00159744 278 chr2:179640716:A:T 81357_5737_1913_F->I 0.00199681 278 chr2:179640736:T:C 81357_5717_1906_H->R 0.000199681 278 chr2:179640850:G:A 81357_5603_1868_A->V 0.000199681 278 chr2:179640851:C:T 81357_5602_1868_A->T 0.000399361 278 chr2:179640919:T:C 81357_5534_1845_Y->C 0.000599042 278 chr2:179640923:G:A 81357_5530_1844_R->C 0.000599042 278 chr2:179641010:G:A 81357_5443_1815_R->C 0.000199681 278 chr2:179641014:C:A 81357_5439_1813_R->S 0.000199681 278 chr2:179641029:T:A 81357_5424_1808_E->D 0.000199681 278 chr2:179641088:G:C 81357_5365_1789_Q->E 0.000199681 278 chr2:179641112:C:A 81357_5341_1781_A->S 0.000798722 278 chr2:179641121:G:A 81357_5332_1778_H->Y 0.000199681 278 chr2:179641327:T:C 81357_5126_1709_N->S 0.000199681 278 chr2:179641328:T:G 81357_5125_1709_N->H 0.000199681 278 chr2:179641336:C:T 81357_5117_1706_R->H 0.000199681 278 chr2:179641360:G:A 81357_5093_1698_P->L 0.00698882 278 chr2:179641505:C:T 81357_4948_1650_D->N 0.000199681 278 chr2:179641543:C:T 81357_4910_1637_R->Q 0.000199681 278 chr2:179641624:G:A 81357_4829_1610_P->L 0.000199681 278 chr2:179641717:G:C 81357_4736_1579_S->C 0.000199681 278 chr2:179641951:G:A 81357_4601_1534_T->M 0.00559105 278 chr2:179641975:C:T 81357_4577_1526_R->Q 0.0752796 278 chr2:179641981:C:G 81357_4571_1524_G->A 0.000399361 278 chr2:179642015:C:T 81357_4537_1513_V->I 0.000199681 278 chr2:179642019:C:T 81357_4533_1511_M->I 0.000199681 278 chr2:179642023:G:A 81357_4529_1510_P->L 0.000199681 278 chr2:179642162:T:C 81357_4492_1498_I->V 0.0119808 278 chr2:179642257:G:A 81357_4397_1466_T->I 0.000399361 278 chr2:179642448:G:A 81357_4325_1442_T->M 0.000199681 278 chr2:179642462:T:A 81357_4311_1437_R->S 0.000199681 278 chr2:179642475:T:C 81357_4298_1433_K->R 0.000199681 278 chr2:179642482:C:G 81357_4291_1431_D->H 0.000199681 278 chr2:179642515:A:G 81357_4258_1420_F->L 0.000399361 278 chr2:179642552:T:A 81357_4221_1407_R->S 0.00139776 278 chr2:179642583:A:G 81357_4190_1397_L->P 0.00379393 278 chr2:179642589:C:G,T 81357_4184_1395_R->P 0.0103834 278 chr2:179642589:C:G,T 81357_4184_1395_R->H 0.0103834 278 chr2:179642620:G:A 81357_4153_1385_R->W 0.000199681 278 chr2:179642622:G:T 81357_4151_1384_A->E 0.000798722 278 chr2:179642650:G:A 81357_4123_1375_R->W 0.000599042 278 chr2:179642665:G:A 81357_4108_1370_R->C 0.0147764 278 chr2:179642683:C:G 81357_4090_1364_V->L 0.000199681 278 chr2:179643601:C:G 81357_4070_1357_R->T 0.00179712 278 chr2:179643610:C:G 81357_4061_1354_S->T 0.00139776 278 chr2:179643632:T:C 81357_4039_1347_I->V 0.0391374 278 chr2:179643640:G:A 81357_4031_1344_P->L 0.000199681 278 chr2:179643649:A:G 81357_4022_1341_L->P 0.000399361 278 chr2:179643760:C:T 81357_3911_1304_R->H 0.000199681 278 chr2:179643761:G:A 81357_3910_1304_R->C 0.000199681 278 chr2:179643775:C:T 81357_3896_1299_G->D 0.00379393 278 chr2:179643842:C:A 81357_3829_1277_A->S 0.000199681 278 chr2:179643964:A:T 81357_3817_1273_L->I 0.000599042 278 chr2:179644020:T:C 81357_3761_1254_Y->C 0.000199681 278 chr2:179644035:G:A 81357_3746_1249_S->L 0.079872 278 chr2:179644047:G:A 81357_3734_1245_S->L 0.000199681 278 chr2:179644084:T:A 81357_3697_1233_M->L 0.000199681 278 chr2:179644761:T:A 81357_3557_1186_D->V 0.000399361 278 chr2:179644776:T:G 81357_3542_1181_K->T 0.000199681 278 chr2:179644788:G:A 81357_3530_1177_A->V 0.00379393 278 chr2:179644837:G:T 81357_3481_1161_P->T 0.000199681 278 chr2:179644840:C:A 81357_3478_1160_A->S 0.000199681 278 chr2:179644848:C:G 81357_3470_1157_G->A 0.000199681 278 chr2:179644855:T:C 81357_3463_1155_K->E 0.4998 278 chr2:179645848:C:T 81357_3385_1129_A->T 0.000399361 278 chr2:179645926:C:T 81357_3307_1103_D->N 0.000199681 278 chr2:179645962:C:G 81357_3271_1091_G->R 0.000998403 278 chr2:179645968:G:C 81357_3265_1089_Q->E 0.000199681 278 chr2:179645985:T:C 81357_3248_1083_K->R 0.000399361 278 chr2:179646984:T:A 81357_3197_1066_H->L 0.000199681 278 chr2:179647077:G:A 81357_3104_1035_A->V 0.000199681 278 chr2:179647078:C:T 81357_3103_1035_A->T 0.000599042 278 chr2:179647149:A:G 81357_3032_1011_V->A 0.000599042 278 chr2:179647297:C:T 81357_2995_999_V->M 0.000199681 278 chr2:179647533:C:T 81357_2962_988_V->M 0.000399361 278 chr2:179647635:G:A 81357_2860_954_L->F 0.000199681 278 chr2:179647718:G:A 81357_2777_926_P->L 0.000199681 278 chr2:179648460:G:A 81357_2690_897_P->L 0.000199681 278 chr2:179648805:C:T 81357_2629_877_E->K 0.000199681 278 chr2:179648807:C:T 81357_2627_876_R->H 0.00319489 278 chr2:179648808:G:A 81357_2626_876_R->C 0.00179712 278 chr2:179648829:G:A 81357_2605_869_R->C 0.000199681 278 chr2:179648883:C:G 81357_2551_851_E->Q 0.000199681 278 chr2:179648886:C:T 81357_2548_850_V->I 0.000599042 278 chr2:179648901:T:C 81357_2533_845_K->E 0.000199681 278 chr2:179648954:G:A 81357_2480_827_A->V 0.000199681 278 chr2:179648967:T:A 81357_2467_823_T->S 0.000199681 278 chr2:179648978:T:G 81357_2456_819_K->T 0.000199681 278 chr2:179650408:G:A 81357_2294_765_T->I 0.100439 278 chr2:179650414:G:C 81357_2288_763_P->R 0.000199681 278 chr2:179650418:G:A 81357_2284_762_R->C 0.000199681 278 chr2:179650444:G:A 81357_2258_753_T->M 0.000798722 278 chr2:179650635:C:A 81357_2172_724_Q->H 0.000798722 278 chr2:179650675:G:A 81357_2132_711_P->L 0.00479233 278 chr2:179650681:G:A 81357_2126_709_S->L 0.000798722 278 chr2:179650690:C:T 81357_2117_706_R->H 0.000199681 278 chr2:179650715:C:T 81357_2092_698_A->T 0.00119808 278 chr2:179650727:G:T 81357_2080_694_R->S 0.000199681 278 chr2:179654121:G:T 81357_1904_635_T->N 0.0644968 278 chr2:179654136:C:A 81357_1889_630_R->I 0.000199681 278 chr2:179654141:T:G 81357_1884_628_R->S 0.000399361 278 chr2:179654220:C:G 81357_1805_602_R->T 0.000199681 278 chr2:179656876:C:T 81357_1585_529_A->T 0.000399361 278 chr2:179658145:C:T 81357_1522_508_V->I 0.000199681 278 chr2:179658175:C:T 81357_1492_498_V->I 0.00758786 278 chr2:179659191:C:T 81357_1333_445_A->T 0.000399361 278 chr2:179659199:A:G 81357_1325_442_V->A 0.000199681 278 chr2:179659200:C:T 81357_1324_442_V->M 0.000399361 278 chr2:179659227:C:T 81357_1297_433_V->I 0.000798722 278 chr2:179659681:C:T 81357_1213_405_A->T 0.000199681 278 chr2:179659722:G:A 81357_1172_391_A->V 0.000199681 278 chr2:179659795:A:G 81357_1099_367_S->P 0.000199681 278 chr2:179659815:C:G 81357_1079_360_R->T 0.0119808 278 chr2:179659845:T:C 81357_1049_350_Y->C 0.000199681 278 chr2:179659891:C:T 81357_1003_335_V->M 0.0139776 278 chr2:179659912:G:A 81357_982_328_R->C 0.236022 278 chr2:179659924:G:A 81357_970_324_P->S 0.00159744 278 chr2:179659928:C:A 81357_966_322_R->S 0.000199681 278 chr2:179664442:A:G 81357_686_229_F->S 0.000199681 278 chr2:179665163:C:T 81357_542_181_S->N 0.0181709 278 chr2:179665166:T:C 81357_539_180_N->S 0.000399361 278 chr2:179665220:A:T 81357_485_162_L->Q 0.000199681 278 chr2:179665308:G:A 81357_397_133_P->S 0.000199681 278 chr2:179665358:C:G 81357_347_116_R->T 0.000199681 278 chr2:179665362:C:T 81357_343_115_V->M 0.000399361 278 chr2:179666871:C:T 81357_289_97_V->M 0.00119808 278 chr2:179666982:C:A 81357_178_60_D->Y 0.0289537 278 chr2:179667000:C:T 81357_160_54_V->M 0.000599042 278 chr2:179667003:C:T 81357_157_53_G->S 0.000199681 278 chr2:179667015:A:G 81357_145_49_S->P 0.000199681 278 chr2:179669327:C:T 81357_43_15_V->I 0.000199681 278 chr2:179669357:C:T 81357_13_5_A->T 0.000199681 278 na12878 Variants: 278 chr2:179396766:C:T 81357_77957_25986_R->Q 278 chr2:179432185:A:G 81357_52055_17352_I->T 278 chr2:179620951:C:T 81357_10739_3580_G->D 278 chr2:179629461:C:T 81357_9643_3215_V->M 278 chr2:179644035:G:A 81357_3746_1249_S->L 278 chr2:179644855:T:C 81357_3463_1155_K->E 278 chr2:179621477:C:T 81357_10213_3405_A->T 278 chr2:179623758:C:T 81357_10118_3373_S->N 278 snyder Variants: 278 chr2:179432185:A:G 81357_52055_17352_I->T 278 chr2:179438480:C:T 81357_45760_15254_E->K 278 chr2:179448393:G:A 81357_38897_12966_A->V 278 chr2:179449131:G:A 81357_38528_12843_S->L 278 chr2:179606288:G:A 81357_11159_3720_T->I 278 chr2:179620951:C:T 81357_10739_3580_G->D 278 chr2:179629461:C:T 81357_9643_3215_V->M 278 chr2:179644035:G:A 81357_3746_1249_S->L 278 chr2:179644855:T:C 81357_3463_1155_K->E 278 chr2:179621477:C:T 81357_10213_3405_A->T 278 chr2:179623758:C:T 81357_10118_3373_S->N 279 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000359218 gene_Name: TITIN_HUMAN 279 list of pdbs: 279 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 279 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 279 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 279 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 279 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 279 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 279 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 279 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 279 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 279 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 279 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 279 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 279 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 279 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 279 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 279 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 279 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 279 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 279 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 279 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 279 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 279 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 279 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 279 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 279 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 279 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 279 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 279 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 279 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 279 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 279 Zimmer Variants: 279 chr2:179397561:C:T 81156_76961_25654_R->H 279 chr2:179406191:C:T 81156_70793_23598_R->H 279 chr2:179427536:T:C 81156_56503_18835_I->V 279 chr2:179430997:G:A 81156_53042_17681_T->M 279 chr2:179432185:A:G 81156_51854_17285_I->T 279 chr2:179436020:G:A 81156_48019_16007_R->C 279 chr2:179444939:C:T 81156_40255_13419_V->I 279 chr2:179457147:G:A 81156_32765_10922_P->L 279 chr2:179458591:C:T 81156_31616_10539_R->H 279 chr2:179464527:T:C 81156_29281_9761_N->D 279 chr2:179472223:A:G 81156_26372_8791_I->T 279 chr2:179629461:C:T 81156_9643_3215_V->M 279 chr2:179634421:T:G 81156_8749_2917_T->P 279 chr2:179644035:G:A 81156_3746_1249_S->L 279 chr2:179644855:T:C 81156_3463_1155_K->E 279 chr2:179421694:A:G 81156_61367_20456_I->T 279 chr2:179623758:C:T 81156_10118_3373_S->N 279 HGMD Variants: 279 chr2:179391825:G:A 81156_81070_27024_Q->* 279 chr2:179395510:G:A 81156_79012_26338_Q->* 279 chr2:179397250:G:A 81156_77272_25758_R->* 279 chr2:179398393:G:A 81156_76129_25377_Q->* 279 chr2:179398819:G:A 81156_75703_25235_R->* 279 chr2:179400115:G:A 81156_74407_24803_R->* 279 chr2:179401029:G:T 81156_73625_24542_S->* 279 chr2:179403522:T:A 81156_72214_24072_K->* 279 chr2:179404286:G:A 81156_71686_23896_R->* 279 chr2:179410799:G:A 81156_68344_22782_Q->* 279 chr2:179412902:C:A 81156_66631_22211_E->* 279 chr2:179413187:G:A 81156_66346_22116_R->* 279 chr2:179413477:C:T 81156_66056_22019_W->* 279 chr2:179422457:G:T 81156_60804_20268_Y->* 279 chr2:179423146:G:A 81156_60220_20074_R->* 279 chr2:179424496:C:T 81156_59543_19848_W->* 279 chr2:179424890:T:A 81156_59149_19717_K->* 279 chr2:179425091:G:A 81156_58948_19650_R->* 279 chr2:179426040:C:T 81156_57999_19333_W->* 279 chr2:179428202:C:A 81156_55837_18613_G->* 279 chr2:179428871:G:A 81156_55168_18390_Q->* 279 chr2:179429822:G:A 81156_54217_18073_R->* 279 chr2:179433095:G:A 81156_50944_16982_Q->* 279 chr2:179440999:C:T 81156_43040_14347_W->* 279 chr2:179444429:G:A 81156_40675_13559_R->* 279 chr2:179447693:G:C 81156_39017_13006_S->* 279 chr2:179452435:G:A 81156_36781_12261_R->* 279 chr2:179454576:G:A 81156_35056_11686_R->* 279 chr2:179454957:G:A 81156_34675_11559_R->* 279 chr2:179455162:A:T 81156_34470_11490_C->* 279 chr2:179456553:C:T 81156_33173_11058_W->* 279 chr2:179458850:C:A 81156_31450_10484_E->* 279 chr2:179460363:G:A 81156_30898_10300_R->* 279 chr2:179462478:G:A 81156_30511_10171_R->* 279 chr2:179463631:G:A 81156_29986_9996_R->* 279 chr2:179469904:C:T 81156_27180_9060_W->* 279 chr2:179470369:C:A 81156_26833_8945_E->* 279 chr2:179471841:C:A 81156_26668_8890_G->* 279 chr2:179481235:G:A 81156_21463_7155_R->* 279 chr2:179483495:G:T 81156_19962_6654_Y->* 279 chr2:179483504:A:T 81156_19953_6651_Y->* 279 chr2:179485012:G:T 81156_19416_6472_C->* 279 chr2:179485878:G:T 81156_18747_6249_Y->* 279 chr2:179486244:G:A 81156_18487_6163_R->* 279 chr2:179505980:T:A 81156_13801_4601_K->* 279 chr2:179604264:G:A 81156_12982_4328_Q->* 279 chr2:179604852:G:A 81156_12394_4132_Q->* 279 chr2:179605373:G:T 81156_11873_3958_S->* 279 chr2:179605752:C:A 81156_11494_3832_E->* 279 chr2:179647599:G:A 81156_2896_966_R->* 279 chr2:179391848:A:G 81156_81047_27016_L->P 279 chr2:179391875:A:T 81156_81020_27007_I->N 279 chr2:179391878:T:G 81156_81017_27006_H->P 279 chr2:179392277:A:G 81156_80756_26919_M->T 279 chr2:179395188:T:G 81156_79334_26445_K->T 279 chr2:179397432:C:T 81156_77090_25697_R->Q 279 chr2:179397654:A:G 81156_76868_25623_V->A 279 chr2:179399071:G:A 81156_75451_25151_R->W 279 chr2:179399128:A:G 81156_75394_25132_W->R 279 chr2:179401230:G:A 81156_73424_24475_P->L 279 chr2:179407285:G:T 81156_70378_23460_P->T 279 chr2:179410591:C:A 81156_68552_22851_G->V 279 chr2:179410591:C:T 81156_68552_22851_G->D 279 chr2:179410592:C:G 81156_68551_22851_G->R 279 chr2:179410605:G:C 81156_68538_22846_N->K 279 chr2:179410768:G:A 81156_68375_22792_P->L 279 chr2:179410768:G:A 81156_68375_22792_P->L 279 chr2:179410776:C:G 81156_68367_22789_W->C 279 chr2:179410777:C:A 81156_68366_22789_W->L 279 chr2:179410778:A:G 81156_68365_22789_W->R 279 chr2:179410828:C:T 81156_68315_22772_C->Y 279 chr2:179410829:A:G 81156_68314_22772_C->R 279 chr2:179410829:A:G 81156_68314_22772_C->R 279 chr2:179410837:G:C 81156_68306_22769_P->R 279 chr2:179410837:G:C 81156_68306_22769_P->R 279 chr2:179410975:C:T 81156_68263_22755_G->R 279 chr2:179412679:A:G 81156_66854_22285_I->T 279 chr2:179414186:G:A 81156_65347_21783_P->S 279 chr2:179426079:T:G 81156_57960_19320_E->D 279 chr2:179439884:C:T 81156_44155_14719_G->S 279 chr2:179442784:C:G 81156_41638_13880_A->P 279 chr2:179446300:A:T 81156_39875_13292_V->E 279 chr2:179447901:C:A 81156_38809_12937_A->S 279 chr2:179452695:C:T 81156_36619_12207_A->T 279 chr2:179458477:A:G 81156_31730_10577_I->T 279 chr2:179463490:C:T 81156_30127_10043_A->T 279 chr2:179466511:C:T 81156_28486_9496_E->K 279 chr2:179477195:T:C 81156_23237_7746_Y->C 279 chr2:179485846:G:C 81156_18779_6260_A->G 279 chr2:179506964:C:G 81156_13738_4580_V->L 279 chr2:179506964:C:G 81156_13738_4580_V->L 279 chr2:179602841:C:T 81156_13625_4542_S->N 279 chr2:179603039:C:T 81156_13427_4476_G->D 279 chr2:179603970:C:T 81156_13276_4426_D->N 279 chr2:179605613:G:T 81156_11633_3878_S->Y 279 chr2:179634621:G:A 81156_8549_2850_T->I 279 chr2:179635998:T:C 81156_7918_2640_I->V 279 chr2:179635998:T:C 81156_7918_2640_I->V 279 chr2:179638834:C:T 81156_6923_2308_R->H 279 chr2:179641014:C:A 81156_5439_1813_R->S 279 chr2:179647533:C:T 81156_2962_988_V->M 279 chr2:179647707:A:G 81156_2788_930_W->R 279 chr2:179650717:G:A 81156_2090_697_A->V 279 chr2:179650726:C:A 81156_2081_694_R->L 279 chr2:179667000:C:T 81156_160_54_V->M 279 oneKG Variants: 279 chr2:179393524:G:A 81156_80134_26712_R->* 0.000199681 279 chr2:179404241:G:A 81156_71731_23911_R->* 0.000199681 279 chr2:179411199:A:C 81156_68039_22680_L->* 0.000199681 279 chr2:179412199:G:C 81156_67334_22445_S->* 0.000199681 279 chr2:179429372:C:A 81156_54667_18223_E->* 0.000199681 279 chr2:179429538:G:T 81156_54501_18167_Y->* 0.00219649 279 chr2:179433674:T:A 81156_50365_16789_K->* 0.000199681 279 chr2:179434205:G:A 81156_49834_16612_R->* 0.000199681 279 chr2:179444429:G:A 81156_40675_13559_R->* 0.000199681 279 chr2:179455726:A:T 81156_33906_11302_Y->* 0.000199681 279 chr2:179478953:G:A 81156_22351_7451_R->* 0.000199681 279 chr2:179494977:G:A 81156_17452_5818_R->* 0.000199681 279 chr2:179391749:C:T 81156_81146_27049_R->Q 0.000199681 279 chr2:179391819:C:T 81156_81076_27026_G->S 0.000199681 279 chr2:179391921:A:T 81156_80974_26992_C->S 0.000199681 279 chr2:179391962:C:T 81156_80933_26978_C->Y 0.000399361 279 chr2:179391987:C:T 81156_80908_26970_E->K 0.000199681 279 chr2:179392248:T:C 81156_80785_26929_S->G 0.000399361 279 chr2:179392277:A:G 81156_80756_26919_M->T 0.00219649 279 chr2:179392469:A:G 81156_80564_26855_V->A 0.000199681 279 chr2:179393111:A:G 81156_80447_26816_V->A 0.0920527 279 chr2:179393124:G:A 81156_80434_26812_R->C 0.000199681 279 chr2:179393148:T:C 81156_80410_26804_I->V 0.000199681 279 chr2:179393358:T:A 81156_80300_26767_Q->L 0.000199681 279 chr2:179393374:G:C 81156_80284_26762_P->A 0.000199681 279 chr2:179393389:C:G 81156_80269_26757_E->Q 0.000199681 279 chr2:179393469:C:G 81156_80189_26730_R->T 0.000399361 279 chr2:179393563:C:G 81156_80095_26699_V->L 0.000199681 279 chr2:179393602:A:C 81156_80056_26686_L->V 0.000599042 279 chr2:179393620:C:T 81156_80038_26680_E->K 0.000199681 279 chr2:179393653:T:C 81156_80005_26669_I->V 0.000199681 279 chr2:179393691:G:A 81156_79967_26656_T->I 0.00379393 279 chr2:179393751:A:G 81156_79907_26636_V->A 0.000199681 279 chr2:179393803:C:G 81156_79855_26619_E->Q 0.000399361 279 chr2:179393859:A:G 81156_79799_26600_I->T 0.00459265 279 chr2:179393898:T:A 81156_79760_26587_E->V 0.00119808 279 chr2:179393941:T:G 81156_79717_26573_K->Q 0.000199681 279 chr2:179394707:C:G 81156_79691_26564_S->T 0.000199681 279 chr2:179394795:A:T 81156_79603_26535_F->I 0.000199681 279 chr2:179394827:C:T 81156_79571_26524_G->D 0.000199681 279 chr2:179394993:G:C 81156_79529_26510_T->S 0.000199681 279 chr2:179395000:G:A 81156_79522_26508_R->W 0.000199681 279 chr2:179395084:G:A 81156_79438_26480_P->S 0.000199681 279 chr2:179395233:G:T 81156_79289_26430_T->N 0.000199681 279 chr2:179395281:T:C 81156_79241_26414_Q->R 0.000599042 279 chr2:179395417:T:G 81156_79105_26369_S->R 0.000199681 279 chr2:179395461:G:A 81156_79061_26354_A->V 0.000199681 279 chr2:179395500:G:A 81156_79022_26341_P->L 0.000199681 279 chr2:179395554:G:A 81156_78968_26323_A->V 0.00519169 279 chr2:179395555:C:A 81156_78967_26323_A->S 0.00519169 279 chr2:179395560:G:A 81156_78962_26321_P->L 0.0792732 279 chr2:179395573:C:T 81156_78949_26317_E->K 0.00658946 279 chr2:179395605:G:C 81156_78917_26306_A->G 0.000199681 279 chr2:179395623:C:T 81156_78899_26300_R->Q 0.000199681 279 chr2:179395689:A:G 81156_78833_26278_I->T 0.000399361 279 chr2:179395700:G:T 81156_78822_26274_F->L 0.000798722 279 chr2:179395717:T:G 81156_78805_26269_K->Q 0.000199681 279 chr2:179395813:C:T 81156_78709_26237_V->M 0.0105831 279 chr2:179395852:G:A 81156_78670_26224_R->C 0.000199681 279 chr2:179395875:G:C 81156_78647_26216_P->R 0.000199681 279 chr2:179395893:C:T 81156_78629_26210_C->Y 0.000199681 279 chr2:179395912:C:T 81156_78610_26204_E->K 0.000199681 279 chr2:179395935:C:T 81156_78587_26196_R->Q 0.000199681 279 chr2:179396130:G:C 81156_78392_26131_S->C 0.000998403 279 chr2:179396162:C:G 81156_78360_26120_E->D 0.0229633 279 chr2:179396206:C:T 81156_78316_26106_E->K 0.000199681 279 chr2:179396214:C:T 81156_78308_26103_R->H 0.000199681 279 chr2:179396215:G:A 81156_78307_26103_R->C 0.00119808 279 chr2:179396251:C:T 81156_78271_26091_V->M 0.000199681 279 chr2:179396293:T:C 81156_78229_26077_T->A 0.000399361 279 chr2:179396305:G:A 81156_78217_26073_R->C 0.000199681 279 chr2:179396311:T:C 81156_78211_26071_T->A 0.000199681 279 chr2:179396329:G:A 81156_78193_26065_H->Y 0.000199681 279 chr2:179396475:C:T 81156_78047_26016_G->D 0.000599042 279 chr2:179396497:G:A 81156_78025_26009_R->C 0.000199681 279 chr2:179396610:T:C 81156_77912_25971_Y->C 0.000199681 279 chr2:179396766:C:T 81156_77756_25919_R->Q 0.00359425 279 chr2:179396782:C:G 81156_77740_25914_V->L 0.00239617 279 chr2:179396808:G:A 81156_77714_25905_P->L 0.000199681 279 chr2:179396824:G:A 81156_77698_25900_R->W 0.000199681 279 chr2:179396826:C:T 81156_77696_25899_R->Q 0.000399361 279 chr2:179396878:A:G 81156_77644_25882_S->P 0.000199681 279 chr2:179396928:C:T 81156_77594_25865_R->Q 0.000399361 279 chr2:179396965:T:G 81156_77557_25853_M->L 0.00758786 279 chr2:179396977:C:T 81156_77545_25849_E->K 0.00119808 279 chr2:179396995:G:A 81156_77527_25843_L->F 0.000399361 279 chr2:179397091:C:G 81156_77431_25811_A->P 0.000199681 279 chr2:179397163:T:C 81156_77359_25787_R->G 0.000199681 279 chr2:179397216:C:T 81156_77306_25769_R->H 0.000199681 279 chr2:179397238:G:C 81156_77284_25762_H->D 0.000199681 279 chr2:179397297:C:T 81156_77225_25742_R->H 0.000399361 279 chr2:179397327:G:A 81156_77195_25732_A->V 0.000199681 279 chr2:179397349:G:C 81156_77173_25725_L->V 0.000199681 279 chr2:179397403:A:G 81156_77119_25707_Y->H 0.000199681 279 chr2:179397429:C:T 81156_77093_25698_R->H 0.000199681 279 chr2:179397433:G:A 81156_77089_25697_R->W 0.000199681 279 chr2:179397475:T:G 81156_77047_25683_K->Q 0.000199681 279 chr2:179397513:C:T 81156_77009_25670_R->H 0.000199681 279 chr2:179397561:C:T 81156_76961_25654_R->H 0.208666 279 chr2:179397619:G:A 81156_76903_25635_R->C 0.000399361 279 chr2:179397709:G:T 81156_76813_25605_P->T 0.000199681 279 chr2:179397717:A:G 81156_76805_25602_V->A 0.000199681 279 chr2:179397751:T:C 81156_76771_25591_K->E 0.000199681 279 chr2:179397856:T:C 81156_76666_25556_T->A 0.000199681 279 chr2:179397871:C:T 81156_76651_25551_E->K 0.000199681 279 chr2:179397908:G:T 81156_76614_25538_D->E 0.000199681 279 chr2:179397925:C:T 81156_76597_25533_V->I 0.000399361 279 chr2:179397930:C:T 81156_76592_25531_R->Q 0.00139776 279 chr2:179397937:G:T 81156_76585_25529_H->N 0.000199681 279 chr2:179397979:G:A 81156_76543_25515_R->C 0.00319489 279 chr2:179398024:T:C 81156_76498_25500_N->D 0.000199681 279 chr2:179398050:G:A 81156_76472_25491_T->M 0.000199681 279 chr2:179398195:C:G 81156_76327_25443_E->Q 0.00219649 279 chr2:179398386:G:A 81156_76136_25379_T->I 0.000199681 279 chr2:179398411:A:G 81156_76111_25371_S->P 0.000199681 279 chr2:179398419:G:A 81156_76103_25368_T->I 0.000199681 279 chr2:179398443:G:A 81156_76079_25360_P->L 0.000199681 279 chr2:179398509:C:A 81156_76013_25338_G->V 0.0780751 279 chr2:179398581:A:G 81156_75941_25314_L->P 0.000199681 279 chr2:179398591:T:C 81156_75931_25311_M->V 0.00119808 279 chr2:179398605:C:T 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0.00159744 279 chr2:179659928:C:A 81156_966_322_R->S 0.000199681 279 chr2:179664442:A:G 81156_686_229_F->S 0.000199681 279 chr2:179665163:C:T 81156_542_181_S->N 0.0181709 279 chr2:179665166:T:C 81156_539_180_N->S 0.000399361 279 chr2:179665220:A:T 81156_485_162_L->Q 0.000199681 279 chr2:179665308:G:A 81156_397_133_P->S 0.000199681 279 chr2:179665358:C:G 81156_347_116_R->T 0.000199681 279 chr2:179665362:C:T 81156_343_115_V->M 0.000399361 279 chr2:179666871:C:T 81156_289_97_V->M 0.00119808 279 chr2:179666982:C:A 81156_178_60_D->Y 0.0289537 279 chr2:179667000:C:T 81156_160_54_V->M 0.000599042 279 chr2:179667003:C:T 81156_157_53_G->S 0.000199681 279 chr2:179667015:A:G 81156_145_49_S->P 0.000199681 279 chr2:179669327:C:T 81156_43_15_V->I 0.000199681 279 chr2:179669357:C:T 81156_13_5_A->T 0.000199681 279 na12878 Variants: 279 chr2:179396766:C:T 81156_77756_25919_R->Q 279 chr2:179432185:A:G 81156_51854_17285_I->T 279 chr2:179629461:C:T 81156_9643_3215_V->M 279 chr2:179644035:G:A 81156_3746_1249_S->L 279 chr2:179644855:T:C 81156_3463_1155_K->E 279 chr2:179623758:C:T 81156_10118_3373_S->N 279 snyder Variants: 279 chr2:179432185:A:G 81156_51854_17285_I->T 279 chr2:179438480:C:T 81156_45559_15187_E->K 279 chr2:179448393:G:A 81156_38696_12899_A->V 279 chr2:179449131:G:A 81156_38327_12776_S->L 279 chr2:179606288:G:A 81156_10958_3653_T->I 279 chr2:179629461:C:T 81156_9643_3215_V->M 279 chr2:179644035:G:A 81156_3746_1249_S->L 279 chr2:179644855:T:C 81156_3463_1155_K->E 279 chr2:179623758:C:T 81156_10118_3373_S->N 280 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155657_ENST00000360870 gene_Name: TITIN_HUMAN 280 list of pdbs: 280 3QP3 pdb_description: 15-Feb-12 X-ray 2.000 Crystal structure of titin domain m4, tetragonal form 280 3Q5O pdb_description: 01-Feb-12 X-ray 2.050 Crystal structure of human titin domain m10 280 3PUC pdb_description: 21-Dec-11 X-ray 0.960 Atomic resolution structure of titin domain m7 280 3LPW pdb_description: 08-Sep-10 X-ray 1.650 Crystal structure of the fniii-tandem a77-a78 from the a-ban 280 3LCY pdb_description: 25-May-11 X-ray 2.500 Titin ig tandem domains a164-a165 280 3B43 pdb_description: 22-Jan-08 X-ray 3.300 I-band fragment i65-i70 from titin 280 2Y9R pdb_description: 02-Mar-11 X-ray 1.900 Crystal structure of the m10 domain of titin 280 2RQ8 pdb_description: 02-Feb-10 NMR 20 Solution nmr structure of titin i27 domain mutant 280 2NZI pdb_description: 13-Feb-07 X-ray 2.900 Crystal structure of domains a168-a170 from titin 280 2J8O pdb_description: 21-Aug-07 X-ray 2.490 Structure of the immunoglobulin tandem repeat of titin a168- a169 280 2J8H pdb_description: 21-Aug-07 X-ray 1.990 Structure of the immunoglobulin tandem repeat a168-a169 of titin 280 2ILL pdb_description: 20-Feb-07 X-ray 2.200 Anomalous substructure of titin-a168169 280 2BK8 pdb_description: 09-Aug-06 X-ray 1.690 M1 domain from titin 280 2A38 pdb_description: 24-Jun-06 X-ray 2.000 Crystal structure of the n-terminus of titin 280 1WAA pdb_description: 05-Jul-06 X-ray 1.800 Ig27 protein domain 280 1TNN pdb_description: 20-Apr-95 NMR 16 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 280 1TNM pdb_description: 20-Apr-95 NMR 1 Tertiary structure of an immunoglobulin-like domain from the muscle protein titin: a new member of the i set 280 1TKI pdb_description: 08-Jun-99 X-ray 2.000 Autoinhibited serine kinase domain of the giant muscle protein titin 280 1TIU pdb_description: 11-Jul-96 NMR 24 Titin, ig repeat 27, nmr, 24 structures 280 1TIT pdb_description: 11-Jul-96 NMR 1 Titin, ig repeat 27, nmr, minimized average structure 280 1NCU pdb_description: 08-Nov-96 NMR 16 Titin module m5, n-terminally extended, nmr 280 1NCT pdb_description: 08-Nov-96 NMR 1 Titin module m5, n-terminally extended, nmr 280 1G1C pdb_description: 12-Oct-01 X-ray 2.100 I1 domain from titin 280 1BPV pdb_description: 12-Aug-99 NMR 50 Titin module a71 from human cardiac muscle, nmr, 50 structures 280 2F8V pdb_description: 27-Jun-06 X-ray 2.750 Structure of full length telethonin in complex with the n-te titin 280 1YA5 pdb_description: 20-Dec-05 X-ray 2.440 Crystal structure of the titin domains z1z2 in complex with 280 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 280 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 280 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 280 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 280 Zimmer Variants: 280 chr2:179615887:T:C 16815_11240_3747_D->G;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179615931:C:G 16815_11196_3732_L->F;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179616052:C:G 16815_11075_3692_S->T;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179629461:C:T 16815_9781_3261_V->M;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179634421:T:G 16815_8887_2963_T->P;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179644035:G:A 16815_3884_1295_S->L;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179644855:T:C 16815_3601_1201_K->E;HUB=PHOS&PPI;GENE=TTN;CDSS=3;DBRECUR=TTN 280 chr2:179623758:C:T 16815_10256_3419_S->N;HUB=PHOS&PPI;GENE=TTN;CDSS=2;DBRECUR=TTN 280 HGMD Variants: 280 chr2:179647599:G:A 16815_3034_1012_R->* 280 chr2:179634621:G:A 16815_8687_2896_T->I 280 chr2:179635998:T:C 16815_8056_2686_I->V 280 chr2:179635998:T:C 16815_8056_2686_I->V 280 chr2:179638834:C:T 16815_7061_2354_R->H 280 chr2:179641014:C:A 16815_5577_1859_R->S 280 chr2:179647533:C:T 16815_3100_1034_V->M 280 chr2:179647707:A:G 16815_2926_976_W->R 280 chr2:179650717:G:A 16815_2228_743_A->V 280 chr2:179650726:C:A 16815_2219_740_R->L 280 chr2:179667000:C:T 16815_160_54_V->M 280 oneKG Variants: 280 chr2:179610383:C:A 16815_16744_5582_G->* 0.000199681 280 chr2:179613873:A:C 16815_13254_4418_Y->* 0.000199681 280 chr2:179613884:G:A 16815_13243_4415_Q->* 0.000199681 280 chr2:179614307:G:A 16815_12820_4274_Q->* 0.000199681 280 chr2:179610589:G:C 16815_16538_5513_P->R 0.000199681 280 chr2:179610619:C:G 16815_16508_5503_S->T 0.00579073 280 chr2:179610643:A:G 16815_16484_5495_V->A 0.000199681 280 chr2:179610656:T:G 16815_16471_5491_M->L 0.000399361 280 chr2:179610695:C:T 16815_16432_5478_V->M 0.0383387 280 chr2:179610779:T:A 16815_16348_5450_T->S 0.000199681 280 chr2:179610799:A:G 16815_16328_5443_V->A 0.000199681 280 chr2:179610836:C:T 16815_16291_5431_E->K 0.000199681 280 chr2:179610896:C:T 16815_16231_5411_V->I 0.000399361 280 chr2:179610967:C:T 16815_16160_5387_C->Y 0.00119808 280 chr2:179610985:C:T 16815_16142_5381_R->H 0.000399361 280 chr2:179610992:G:A 16815_16135_5379_P->S 0.000199681 280 chr2:179611064:C:G 16815_16063_5355_V->L 0.000199681 280 chr2:179611126:G:A 16815_16001_5334_P->L 0.0071885 280 chr2:179611156:A:T 16815_15971_5324_F->Y 0.000798722 280 chr2:179611279:G:A 16815_15848_5283_P->L 0.000199681 280 chr2:179611345:A:G 16815_15782_5261_I->T 0.000199681 280 chr2:179611444:C:A 16815_15683_5228_R->I 0.000199681 280 chr2:179611449:A:T 16815_15678_5226_D->E 0.000399361 280 chr2:179611451:C:G 16815_15676_5226_D->H 0.000199681 280 chr2:179611519:A:G 16815_15608_5203_I->T 0.000199681 280 chr2:179611552:C:T 16815_15575_5192_R->K 0.000199681 280 chr2:179611703:C:T 16815_15424_5142_G->S 0.000399361 280 chr2:179611711:C:A 16815_15416_5139_R->M 0.0772764 280 chr2:179611741:G:A 16815_15386_5129_T->I 0.000199681 280 chr2:179611825:T:C 16815_15302_5101_E->G 0.000199681 280 chr2:179611934:G:A 16815_15193_5065_P->S 0.000199681 280 chr2:179612012:A:T 16815_15115_5039_Y->N 0.000199681 280 chr2:179612036:G:A 16815_15091_5031_P->S 0.000199681 280 chr2:179612095:T:G 16815_15032_5011_D->A 0.000199681 280 chr2:179612182:G:C 16815_14945_4982_S->C 0.000599042 280 chr2:179612225:C:T 16815_14902_4968_D->N 0.000199681 280 chr2:179612246:G:A 16815_14881_4961_R->C 0.000199681 280 chr2:179612287:G:A 16815_14840_4947_T->I 0.000199681 280 chr2:179612314:A:G 16815_14813_4938_M->T 0.000199681 280 chr2:179612315:T:C 16815_14812_4938_M->V 0.000599042 280 chr2:179612321:T:A 16815_14806_4936_T->S 0.000399361 280 chr2:179612378:C:T 16815_14749_4917_V->I 0.000199681 280 chr2:179612383:C:T 16815_14744_4915_R->H 0.0145767 280 chr2:179612455:T:A 16815_14672_4891_D->V 0.000199681 280 chr2:179612635:C:T 16815_14492_4831_C->Y 0.00599042 280 chr2:179612638:T:C 16815_14489_4830_Q->R 0.000599042 280 chr2:179612658:A:T 16815_14469_4823_H->Q 0.000399361 280 chr2:179612662:A:T 16815_14465_4822_L->H 0.000199681 280 chr2:179612728:C:T 16815_14399_4800_G->E 0.000199681 280 chr2:179612800:A:G 16815_14327_4776_L->S 0.00259585 280 chr2:179612933:A:T 16815_14194_4732_S->T 0.000798722 280 chr2:179612960:A:G 16815_14167_4723_S->P 0.000399361 280 chr2:179613049:A:G 16815_14078_4693_I->T 0.000399361 280 chr2:179613112:G:A 16815_14015_4672_A->V 0.000998403 280 chr2:179613147:G:C 16815_13980_4660_H->Q 0.0385383 280 chr2:179613176:T:C 16815_13951_4651_S->G 0.000199681 280 chr2:179613179:G:A 16815_13948_4650_P->S 0.00119808 280 chr2:179613191:T:C 16815_13936_4646_K->E 0.00259585 280 chr2:179613264:C:T 16815_13863_4621_M->I 0.00858626 280 chr2:179613268:T:G 16815_13859_4620_Q->P 0.00379393 280 chr2:179613284:C:T 16815_13843_4615_V->I 0.000399361 280 chr2:179613305:G:A 16815_13822_4608_P->S 0.000199681 280 chr2:179613328:T:G 16815_13799_4600_E->A 0.000199681 280 chr2:179613335:G:A 16815_13792_4598_P->S 0.000399361 280 chr2:179613357:G:C 16815_13770_4590_F->L 0.000199681 280 chr2:179613490:T:C 16815_13637_4546_Q->R 0.000199681 280 chr2:179613494:C:T 16815_13633_4545_A->T 0.00359425 280 chr2:179613513:T:G 16815_13614_4538_Q->H 0.00179712 280 chr2:179613566:T:C 16815_13561_4521_T->A 0.000199681 280 chr2:179613607:A:G 16815_13520_4507_L->P 0.000199681 280 chr2:179613628:C:T 16815_13499_4500_R->K 0.000199681 280 chr2:179613649:T:G 16815_13478_4493_K->T 0.0135783 280 chr2:179613658:A:G 16815_13469_4490_I->T 0.000199681 280 chr2:179613745:A:G 16815_13382_4461_I->T 0.000199681 280 chr2:179613763:T:C 16815_13364_4455_K->R 0.000798722 280 chr2:179613773:G:T 16815_13354_4452_P->T 0.000199681 280 chr2:179613780:T:C 16815_13347_4449_I->M 0.00139776 280 chr2:179613793:A:G 16815_13334_4445_L->P 0.000199681 280 chr2:179613830:T:C 16815_13297_4433_T->A 0.000199681 280 chr2:179613919:C:T 16815_13208_4403_G->D 0.000199681 280 chr2:179613956:T:C 16815_13171_4391_I->V 0.000399361 280 chr2:179613962:C:T 16815_13165_4389_V->I 0.0189696 280 chr2:179614004:C:A 16815_13123_4375_A->S 0.000399361 280 chr2:179614008:G:C 16815_13119_4373_H->Q 0.000199681 280 chr2:179614027:C:T 16815_13100_4367_S->N 0.000399361 280 chr2:179614082:G:T 16815_13045_4349_P->T 0.00199681 280 chr2:179614141:G:C 16815_12986_4329_S->C 0.000199681 280 chr2:179614148:T:C 16815_12979_4327_I->V 0.000199681 280 chr2:179614154:G:A 16815_12973_4325_R->C 0.000199681 280 chr2:179614349:C:T 16815_12778_4260_E->K 0.000199681 280 chr2:179614385:C:T 16815_12742_4248_V->M 0.000199681 280 chr2:179614390:A:G 16815_12737_4246_L->P 0.000199681 280 chr2:179614411:G:A 16815_12716_4239_A->V 0.000798722 280 chr2:179614412:C:T 16815_12715_4239_A->T 0.000199681 280 chr2:179614420:T:C 16815_12707_4236_N->S 0.000199681 280 chr2:179614468:T:C 16815_12659_4220_D->G 0.000199681 280 chr2:179614474:A:G 16815_12653_4218_I->T 0.000798722 280 chr2:179614564:G:C 16815_12563_4188_P->R 0.000199681 280 chr2:179614589:A:T 16815_12538_4180_C->S 0.000199681 280 chr2:179614591:T:G 16815_12536_4179_E->A 0.000199681 280 chr2:179614603:G:T 16815_12524_4175_S->Y 0.000199681 280 chr2:179614615:C:T 16815_12512_4171_R->K 0.000399361 280 chr2:179614661:C:G 16815_12466_4156_E->Q 0.000199681 280 chr2:179614672:T:C 16815_12455_4152_D->G 0.000199681 280 chr2:179614795:G:A 16815_12332_4111_T->I 0.000199681 280 chr2:179614805:T:C 16815_12322_4108_T->A 0.000199681 280 chr2:179614870:G:A 16815_12257_4086_T->I 0.000199681 280 chr2:179614901:C:T 16815_12226_4076_E->K 0.00379393 280 chr2:179614973:A:T 16815_12154_4052_Y->N 0.000199681 280 chr2:179614996:T:A 16815_12131_4044_H->L 0.000199681 280 chr2:179615024:C:T 16815_12103_4035_A->T 0.000998403 280 chr2:179615060:C:T 16815_12067_4023_G->R 0.00339457 280 chr2:179615203:A:G 16815_11924_3975_V->A 0.000199681 280 chr2:179615228:A:G 16815_11899_3967_F->L 0.000199681 280 chr2:179615237:C:G 16815_11890_3964_V->L 0.000199681 280 chr2:179615278:A:G 16815_11849_3950_I->T 0.000399361 280 chr2:179615314:C:T 16815_11813_3938_R->H 0.000399361 280 chr2:179615318:T:G 16815_11809_3937_K->Q 0.000399361 280 chr2:179615363:C:T 16815_11764_3922_E->K 0.000199681 280 chr2:179615370:G:C 16815_11757_3919_F->L 0.000199681 280 chr2:179615386:G:C 16815_11741_3914_T->R 0.00339457 280 chr2:179615440:G:C 16815_11687_3896_A->G 0.000199681 280 chr2:179615486:C:T 16815_11641_3881_E->K 0.000599042 280 chr2:179615489:T:C 16815_11638_3880_S->G 0.000399361 280 chr2:179615654:C:A 16815_11473_3825_G->C 0.000599042 280 chr2:179615708:T:C 16815_11419_3807_R->G 0.000199681 280 chr2:179615777:T:C 16815_11350_3784_I->V 0.000199681 280 chr2:179615849:A:G 16815_11278_3760_Y->H 0.00119808 280 chr2:179615873:A:T 16815_11254_3752_S->T 0.00159744 280 chr2:179615887:T:C 16815_11240_3747_D->G 0.266973 280 chr2:179615931:C:G 16815_11196_3732_L->F 0.02496 280 chr2:179615959:G:A 16815_11168_3723_T->M 0.000199681 280 chr2:179616051:A:C 16815_11076_3692_S->R 0.000199681 280 chr2:179616052:C:G 16815_11075_3692_S->T 0.000199681 280 chr2:179616061:A:G 16815_11066_3689_V->A 0.000199681 280 chr2:179616071:A:G 16815_11056_3686_W->R 0.000199681 280 chr2:179616073:C:T 16815_11054_3685_G->D 0.000199681 280 chr2:179616121:T:C 16815_11006_3669_D->G 0.00579073 280 chr2:179616145:G:A 16815_10982_3661_T->I 0.000199681 280 chr2:179616215:T:A 16815_10912_3638_T->S 0.000199681 280 chr2:179616256:A:G 16815_10871_3624_V->A 0.000399361 280 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280 chr2:179643601:C:G 16815_4208_1403_R->T 0.00179712 280 chr2:179643610:C:G 16815_4199_1400_S->T 0.00139776 280 chr2:179643632:T:C 16815_4177_1393_I->V 0.0391374 280 chr2:179643640:G:A 16815_4169_1390_P->L 0.000199681 280 chr2:179643649:A:G 16815_4160_1387_L->P 0.000399361 280 chr2:179643760:C:T 16815_4049_1350_R->H 0.000199681 280 chr2:179643761:G:A 16815_4048_1350_R->C 0.000199681 280 chr2:179643775:C:T 16815_4034_1345_G->D 0.00379393 280 chr2:179643842:C:A 16815_3967_1323_A->S 0.000199681 280 chr2:179643964:A:T 16815_3955_1319_L->I 0.000599042 280 chr2:179644020:T:C 16815_3899_1300_Y->C 0.000199681 280 chr2:179644035:G:A 16815_3884_1295_S->L 0.079872 280 chr2:179644047:G:A 16815_3872_1291_S->L 0.000199681 280 chr2:179644084:T:A 16815_3835_1279_M->L 0.000199681 280 chr2:179644761:T:A 16815_3695_1232_D->V 0.000399361 280 chr2:179644776:T:G 16815_3680_1227_K->T 0.000199681 280 chr2:179644788:G:A 16815_3668_1223_A->V 0.00379393 280 chr2:179644837:G:T 16815_3619_1207_P->T 0.000199681 280 chr2:179644840:C:A 16815_3616_1206_A->S 0.000199681 280 chr2:179644848:C:G 16815_3608_1203_G->A 0.000199681 280 chr2:179644855:T:C 16815_3601_1201_K->E 0.4998 280 chr2:179645848:C:T 16815_3523_1175_A->T 0.000399361 280 chr2:179645926:C:T 16815_3445_1149_D->N 0.000199681 280 chr2:179645962:C:G 16815_3409_1137_G->R 0.000998403 280 chr2:179645968:G:C 16815_3403_1135_Q->E 0.000199681 280 chr2:179645985:T:C 16815_3386_1129_K->R 0.000399361 280 chr2:179646984:T:A 16815_3335_1112_H->L 0.000199681 280 chr2:179647077:G:A 16815_3242_1081_A->V 0.000199681 280 chr2:179647078:C:T 16815_3241_1081_A->T 0.000599042 280 chr2:179647149:A:G 16815_3170_1057_V->A 0.000599042 280 chr2:179647297:C:T 16815_3133_1045_V->M 0.000199681 280 chr2:179647533:C:T 16815_3100_1034_V->M 0.000399361 280 chr2:179647635:G:A 16815_2998_1000_L->F 0.000199681 280 chr2:179647718:G:A 16815_2915_972_P->L 0.000199681 280 chr2:179648460:G:A 16815_2828_943_P->L 0.000199681 280 chr2:179648805:C:T 16815_2767_923_E->K 0.000199681 280 chr2:179648807:C:T 16815_2765_922_R->H 0.00319489 280 chr2:179648808:G:A 16815_2764_922_R->C 0.00179712 280 chr2:179648829:G:A 16815_2743_915_R->C 0.000199681 280 chr2:179648883:C:G 16815_2689_897_E->Q 0.000199681 280 chr2:179648886:C:T 16815_2686_896_V->I 0.000599042 280 chr2:179648901:T:C 16815_2671_891_K->E 0.000199681 280 chr2:179648954:G:A 16815_2618_873_A->V 0.000199681 280 chr2:179648967:T:A 16815_2605_869_T->S 0.000199681 280 chr2:179648978:T:G 16815_2594_865_K->T 0.000199681 280 chr2:179650408:G:A 16815_2432_811_T->I 0.100439 280 chr2:179650414:G:C 16815_2426_809_P->R 0.000199681 280 chr2:179650418:G:A 16815_2422_808_R->C 0.000199681 280 chr2:179650444:G:A 16815_2396_799_T->M 0.000798722 280 chr2:179650635:C:A 16815_2310_770_Q->H 0.000798722 280 chr2:179650675:G:A 16815_2270_757_P->L 0.00479233 280 chr2:179650681:G:A 16815_2264_755_S->L 0.000798722 280 chr2:179650690:C:T 16815_2255_752_R->H 0.000199681 280 chr2:179650715:C:T 16815_2230_744_A->T 0.00119808 280 chr2:179650727:G:T 16815_2218_740_R->S 0.000199681 280 chr2:179654121:G:T 16815_2042_681_T->N 0.0644968 280 chr2:179654136:C:A 16815_2027_676_R->I 0.000199681 280 chr2:179654141:T:G 16815_2022_674_R->S 0.000399361 280 chr2:179654220:C:G 16815_1943_648_R->T 0.000199681 280 chr2:179655512:T:C 16815_1723_575_T->A 0.000199681 280 chr2:179655526:G:A 16815_1709_570_A->V 0.000998403 280 chr2:179656876:C:T 16815_1585_529_A->T 0.000399361 280 chr2:179658145:C:T 16815_1522_508_V->I 0.000199681 280 chr2:179658175:C:T 16815_1492_498_V->I 0.00758786 280 chr2:179659191:C:T 16815_1333_445_A->T 0.000399361 280 chr2:179659199:A:G 16815_1325_442_V->A 0.000199681 280 chr2:179659200:C:T 16815_1324_442_V->M 0.000399361 280 chr2:179659227:C:T 16815_1297_433_V->I 0.000798722 280 chr2:179659681:C:T 16815_1213_405_A->T 0.000199681 280 chr2:179659722:G:A 16815_1172_391_A->V 0.000199681 280 chr2:179659795:A:G 16815_1099_367_S->P 0.000199681 280 chr2:179659815:C:G 16815_1079_360_R->T 0.0119808 280 chr2:179659845:T:C 16815_1049_350_Y->C 0.000199681 280 chr2:179659891:C:T 16815_1003_335_V->M 0.0139776 280 chr2:179659912:G:A 16815_982_328_R->C 0.236022 280 chr2:179659924:G:A 16815_970_324_P->S 0.00159744 280 chr2:179659928:C:A 16815_966_322_R->S 0.000199681 280 chr2:179664442:A:G 16815_686_229_F->S 0.000199681 280 chr2:179665163:C:T 16815_542_181_S->N 0.0181709 280 chr2:179665166:T:C 16815_539_180_N->S 0.000399361 280 chr2:179665220:A:T 16815_485_162_L->Q 0.000199681 280 chr2:179665308:G:A 16815_397_133_P->S 0.000199681 280 chr2:179665358:C:G 16815_347_116_R->T 0.000199681 280 chr2:179665362:C:T 16815_343_115_V->M 0.000399361 280 chr2:179666871:C:T 16815_289_97_V->M 0.00119808 280 chr2:179666982:C:A 16815_178_60_D->Y 0.0289537 280 chr2:179667000:C:T 16815_160_54_V->M 0.000599042 280 chr2:179667003:C:T 16815_157_53_G->S 0.000199681 280 chr2:179667015:A:G 16815_145_49_S->P 0.000199681 280 chr2:179669327:C:T 16815_43_15_V->I 0.000199681 280 chr2:179669357:C:T 16815_13_5_A->T 0.000199681 280 na12878 Variants: 280 chr2:179615887:T:C 16815_11240_3747_D->G 280 chr2:179615931:C:G 16815_11196_3732_L->F 280 chr2:179629461:C:T 16815_9781_3261_V->M 280 chr2:179644035:G:A 16815_3884_1295_S->L 280 chr2:179644855:T:C 16815_3601_1201_K->E 280 chr2:179623758:C:T 16815_10256_3419_S->N 280 snyder Variants: 280 chr2:179615887:T:C 16815_11240_3747_D->G 280 chr2:179615931:C:G 16815_11196_3732_L->F 280 chr2:179629461:C:T 16815_9781_3261_V->M 280 chr2:179644035:G:A 16815_3884_1295_S->L 280 chr2:179644855:T:C 16815_3601_1201_K->E 280 chr2:179623758:C:T 16815_10256_3419_S->N 281 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000064012_ENST00000358485 gene_Name: CASP8_HUMAN 281 list of pdbs: 281 4JJ7 pdb_description: 12-Jun-13 X-ray 1.180 Caspase-3 specific unnatural amino acid-based peptides 281 3KJQ pdb_description: 11-Aug-10 X-ray 1.800 Caspase 8 with covalent inhibitor 281 3KJN pdb_description: 11-Aug-10 X-ray 1.800 Caspase 8 bound to a covalent inhibitor 281 3H11 pdb_description: 28-Apr-09 X-ray 1.900 Zymogen caspase-8:c-flipl protease domain complex 281 2Y1L pdb_description: 28-Dec-11 X-ray 1.800 Caspase-8 in complex with darpin-8.4 281 2K7Z pdb_description: 24-Mar-09 NMR 20 Solution structure of the catalytic domain of procaspase-8 281 2FUN pdb_description: 27-Jun-06 X-ray 3.000 Alternative p35-caspase-8 complex 281 2C2Z pdb_description: 20-Sep-06 X-ray 1.950 Crystal structure of caspase-8 in complex with aza-peptide m acceptor inhibitor 281 1QTN pdb_description: 20-Sep-00 X-ray 1.200 Crystal structure of the complex of caspase-8 with the tetra inhibitor ace-ietd-aldehyde 281 1QDU pdb_description: 10-Jul-00 X-ray 2.800 Crystal structure of the complex of caspase-8 with the tripe ketone inhibitor zevd-dcbmk 281 1I4E pdb_description: 28-Mar-01 X-ray 3.000 Crystal structure of the caspase-8/p35 complex 281 1F9E pdb_description: 10-Jul-01 X-ray 2.900 Caspase-8 specificity probed at subsite s4: crystal structur caspase-8-z-devd-cho 281 Zimmer Variants: 281 chr2:202122995:A:G 1617_41_14_K->R 281 HGMD Variants: 281 chr2:202141631:C:T 1617_919_307_R->W 281 chr2:202149589:G:C 1617_1030_344_D->H 281 oneKG Variants: 281 chr2:202122956:T:C 1617_2_1_M->T 0.0345447 281 chr2:202122995:A:G 1617_41_14_K->R 0.353634 281 chr2:202123027:C:G 1617_73_25_P->A 0.000399361 281 chr2:202123028:C:G 1617_74_25_P->R 0.000199681 281 chr2:202131368:G:C 1617_336_112_M->I 0.000399361 281 chr2:202137380:T:C 1617_608_203_I->T 0.000199681 281 chr2:202137381:A:G 1617_609_203_I->M 0.000199681 281 chr2:202137411:A:C 1617_639_213_E->D 0.000399361 281 chr2:202137467:A:G 1617_695_232_K->R 0.000199681 281 chr2:202137625:A:C 1617_732_244_R->S 0.000199681 281 chr2:202137663:A:G 1617_770_257_N->S 0.000399361 281 chr2:202139671:T:A 1617_832_278_S->T 0.00159744 281 chr2:202141664:G:A 1617_952_318_D->N 0.000199681 281 chr2:202149589:G:C 1617_1030_344_D->H 0.0527157 281 chr2:202149590:A:G 1617_1031_344_D->G 0.000199681 281 chr2:202149605:A:G 1617_1046_349_E->G 0.000199681 281 chr2:202149740:A:G 1617_1181_394_E->G 0.000199681 281 chr2:202149784:G:A 1617_1225_409_G->R 0.000199681 281 chr2:202149864:G:C 1617_1305_435_E->D 0.000998403 281 chr2:202151187:A:T 1617_1487_496_D->V 0.000199681 281 na12878 Variants: 281 chr2:202122995:A:G 1617_41_14_K->R 281 snyder Variants: 281 chr2:202122995:A:G 1617_41_14_K->R 282 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000072195_ENST00000312358 gene_Name: SPEG_HUMAN 282 list of pdbs: 282 1U2H pdb_description: 05-Jul-05 X-ray 0.960 X-ray structure of the n-terminally truncated human apep-1 282 Zimmer Variants: 282 chr2:220354108:A:G 9804_8368_2790_R->G;HUB=PHOS;GENE=SPEG;CDSS=3;DBRECUR=SPEG 282 chr2:220348751:C:T 9804_6566_2189_P->L;HUB=PHOS;GENE=SPEG;CDSS=2;DBRECUR=SPEG 282 chr2:220355529:A:G 9804_9236_3079_H->R;HUB=PHOS;GENE=SPEG;CDSS=2;DBRECUR=SPEG 282 HGMD Variants: 282 chr2:220338454:C:T 9804_4276_1426_R->* 282 chr2:220348882:C:T 9804_6697_2233_Q->* 282 chr2:220344705:G:T 9804_5185_1729_D->Y 282 chr2:220353896:G:T 9804_8270_2757_G->V 282 oneKG Variants: 282 chr2:220348924:C:T 9804_6739_2247_Q->* 0.000199681 282 chr2:220349608:G:T 9804_7423_2475_E->* 0.000199681 282 chr2:220299713:G:A 9804_14_5_R->Q 0.000199681 282 chr2:220299751:C:T 9804_52_18_P->S 0.000399361 282 chr2:220299815:T:C 9804_116_39_V->A 0.00858626 282 chr2:220299873:C:G 9804_174_58_S->R 0.000199681 282 chr2:220299877:G:C 9804_178_60_V->L 0.000199681 282 chr2:220299886:C:T 9804_187_63_R->W 0.000199681 282 chr2:220300036:G:A 9804_337_113_E->K 0.000199681 282 chr2:220300039:C:T 9804_340_114_R->W 0.000199681 282 chr2:220300070:C:T 9804_371_124_T->I 0.000399361 282 chr2:220309404:G:A 9804_418_140_D->N 0.000199681 282 chr2:220309443:G:A 9804_457_153_G->R 0.000199681 282 chr2:220309685:G:A 9804_617_206_R->H 0.00379393 282 chr2:220309688:G:A 9804_620_207_R->H 0.00239617 282 chr2:220309789:G:A 9804_721_241_A->T 0.000199681 282 chr2:220309810:A:T 9804_742_248_S->C 0.000199681 282 chr2:220312703:C:T 9804_823_275_P->S 0.000199681 282 chr2:220312829:G:A 9804_949_317_G->R 0.000199681 282 chr2:220312988:G:A 9804_1108_370_E->K 0.000199681 282 chr2:220313027:C:T 9804_1147_383_R->C 0.000599042 282 chr2:220313028:G:C 9804_1148_383_R->P 0.000599042 282 chr2:220313111:C:T 9804_1231_411_R->W 0.000199681 282 chr2:220313370:A:T 9804_1490_497_E->V 0.0385383 282 chr2:220313481:C:T 9804_1601_534_P->L 0.000199681 282 chr2:220313517:G:A 9804_1637_546_R->Q 0.000399361 282 chr2:220313633:G:A 9804_1753_585_G->S 0.000798722 282 chr2:220313721:C:A 9804_1841_614_P->H 0.000199681 282 chr2:220313886:G:A 9804_2006_669_R->K 0.000199681 282 chr2:220313945:C:T 9804_2065_689_R->C 0.00239617 282 chr2:220316377:G:A 9804_2288_763_R->H 0.000199681 282 chr2:220316482:A:G 9804_2393_798_N->S 0.000199681 282 chr2:220316484:G:C 9804_2395_799_E->Q 0.000199681 282 chr2:220326693:T:A 9804_2530_844_W->R 0.000199681 282 chr2:220326735:C:T 9804_2572_858_R->C 0.00219649 282 chr2:220327075:G:A 9804_2672_891_R->H 0.000199681 282 chr2:220329199:C:T 9804_2750_917_A->V 0.000199681 282 chr2:220329309:G:A 9804_2860_954_E->K 0.000199681 282 chr2:220331911:G:A 9804_2897_966_R->Q 0.00499201 282 chr2:220332024:C:T 9804_3010_1004_R->C 0.000199681 282 chr2:220332031:G:A 9804_3017_1006_R->H 0.000199681 282 chr2:220332082:A:G 9804_3068_1023_K->R 0.000199681 282 chr2:220333321:G:A 9804_3164_1055_R->Q 0.00758786 282 chr2:220333333:G:A 9804_3176_1059_R->Q 0.000199681 282 chr2:220333344:G:A 9804_3187_1063_A->T 0.00159744 282 chr2:220333401:C:T 9804_3244_1082_R->C 0.000199681 282 chr2:220333426:C:T 9804_3269_1090_T->I 0.000199681 282 chr2:220333587:C:T 9804_3308_1103_P->L 0.000199681 282 chr2:220334038:A:T 9804_3652_1218_T->S 0.000199681 282 chr2:220334044:A:G 9804_3658_1220_S->G 0.000199681 282 chr2:220334086:C:T 9804_3700_1234_R->W 0.000599042 282 chr2:220336616:C:T 9804_3742_1248_P->S 0.00119808 282 chr2:220336637:G:T 9804_3763_1255_A->S 0.000199681 282 chr2:220336975:G:A 9804_3862_1288_A->T 0.000199681 282 chr2:220337036:G:T 9804_3923_1308_S->I 0.000199681 282 chr2:220337041:G:A 9804_3928_1310_D->N 0.0153754 282 chr2:220337618:A:C 9804_3947_1316_D->A 0.000399361 282 chr2:220337627:C:T 9804_3956_1319_T->M 0.000399361 282 chr2:220337640:G:T 9804_3969_1323_Q->H 0.000199681 282 chr2:220337669:C:T 9804_3998_1333_T->M 0.000998403 282 chr2:220337689:C:T 9804_4018_1340_R->W 0.000199681 282 chr2:220337690:G:A 9804_4019_1340_R->Q 0.00579073 282 chr2:220337783:C:T 9804_4112_1371_S->L 0.000199681 282 chr2:220337788:C:G 9804_4117_1373_P->A 0.000199681 282 chr2:220338309:G:A 9804_4231_1411_V->I 0.000199681 282 chr2:220338339:G:A 9804_4261_1421_V->I 0.000199681 282 chr2:220338475:C:T 9804_4297_1433_R->W 0.000199681 282 chr2:220338555:G:A 9804_4377_1459_M->I 0.000798722 282 chr2:220338560:C:T 9804_4382_1461_A->V 0.00299521 282 chr2:220338578:G:A 9804_4400_1467_R->Q 0.00119808 282 chr2:220338597:G:C 9804_4419_1473_Q->H 0.00259585 282 chr2:220341592:A:G 9804_4448_1483_E->G 0.000199681 282 chr2:220341637:C:T 9804_4493_1498_A->V 0.000199681 282 chr2:220341658:C:G 9804_4514_1505_A->G 0.000199681 282 chr2:220342087:A:G 9804_4649_1550_Q->R 0.000199681 282 chr2:220342126:C:T 9804_4688_1563_A->V 0.000798722 282 chr2:220342162:A:T 9804_4724_1575_H->L 0.000199681 282 chr2:220342423:T:C 9804_4742_1581_M->T 0.000199681 282 chr2:220342459:G:A 9804_4778_1593_R->Q 0.000199681 282 chr2:220342649:C:T 9804_4849_1617_R->C 0.000199681 282 chr2:220342650:G:A 9804_4850_1617_R->H 0.000199681 282 chr2:220342662:G:A 9804_4862_1621_R->H 0.000199681 282 chr2:220342683:C:T 9804_4883_1628_A->V 0.000199681 282 chr2:220342727:C:T 9804_4927_1643_R->C 0.000199681 282 chr2:220342728:G:A,T 9804_4928_1643_R->H,2 0.000399361 282 chr2:220342728:G:A,T 9804_4928_1643_R->L 0.000399361 282 chr2:220342799:C:G 9804_4999_1667_R->G 0.00239617 282 chr2:220342802:C:T 9804_5002_1668_R->W 0.000399361 282 chr2:220344715:C:T 9804_5195_1732_A->V 0.000199681 282 chr2:220344720:G:A 9804_5200_1734_E->K 0.000199681 282 chr2:220346099:G:T 9804_5443_1815_A->S 0.000199681 282 chr2:220347820:C:T 9804_5635_1879_R->C 0.000599042 282 chr2:220347880:G:C 9804_5695_1899_A->P 0.000199681 282 chr2:220347907:A:G 9804_5722_1908_M->V 0.00179712 282 chr2:220347928:A:C 9804_5743_1915_S->R 0.00119808 282 chr2:220348261:C:G 9804_6076_2026_R->G 0.000399361 282 chr2:220348471:G:A 9804_6286_2096_G->R 0.000199681 282 chr2:220348478:G:A 9804_6293_2098_R->H 0.000199681 282 chr2:220348543:C:T 9804_6358_2120_L->F 0.00139776 282 chr2:220348751:C:T 9804_6566_2189_P->L 0.285543 282 chr2:220348816:G:A 9804_6631_2211_A->T 0.000399361 282 chr2:220348859:C:T 9804_6674_2225_A->V 0.000199681 282 chr2:220348877:C:A 9804_6692_2231_P->H 0.0117812 282 chr2:220348879:C:A 9804_6694_2232_P->T 0.000998403 282 chr2:220348880:C:A,G 9804_6695_2232_P->H,2 0.00279553 282 chr2:220348880:C:A,G 9804_6695_2232_P->R 0.00279553 282 chr2:220348906:C:T 9804_6721_2241_P->S 0.000199681 282 chr2:220348925:A:T 9804_6740_2247_Q->L 0.000199681 282 chr2:220348943:A:G 9804_6758_2253_Q->R 0.000199681 282 chr2:220348946:T:C 9804_6761_2254_L->P 0.000199681 282 chr2:220348954:C:T 9804_6769_2257_H->Y 0.00219649 282 chr2:220348967:C:T 9804_6782_2261_P->L 0.01877 282 chr2:220348982:C:A 9804_6797_2266_A->D 0.000199681 282 chr2:220349008:C:G 9804_6823_2275_H->D 0.000199681 282 chr2:220349038:C:G 9804_6853_2285_P->A 0.000399361 282 chr2:220349080:G:T 9804_6895_2299_G->C 0.000399361 282 chr2:220349089:G:C 9804_6904_2302_V->L 0.000199681 282 chr2:220349207:G:A 9804_7022_2341_R->H 0.000199681 282 chr2:220349447:C:T 9804_7262_2421_P->L 0.000599042 282 chr2:220349593:C:A 9804_7408_2470_R->S 0.000798722 282 chr2:220349600:G:A 9804_7415_2472_G->D 0.00159744 282 chr2:220349632:C:T 9804_7447_2483_R->C 0.000399361 282 chr2:220349642:C:A 9804_7457_2486_P->Q 0.000399361 282 chr2:220349749:G:T 9804_7564_2522_A->S 0.000199681 282 chr2:220349770:G:A 9804_7585_2529_A->T 0.000199681 282 chr2:220349783:C:T 9804_7598_2533_S->L 0.000199681 282 chr2:220350086:G:C 9804_7628_2543_S->T 0.000599042 282 chr2:220350100:G:T 9804_7642_2548_G->C 0.000199681 282 chr2:220350157:G:A 9804_7699_2567_V->I 0.000199681 282 chr2:220350177:C:G 9804_7719_2573_H->Q 0.000199681 282 chr2:220352918:T:C 9804_7744_2582_F->L 0.000199681 282 chr2:220352934:A:G 9804_7760_2587_H->R 0.000199681 282 chr2:220352984:C:T 9804_7810_2604_L->F 0.00279553 282 chr2:220352993:C:G 9804_7819_2607_P->A 0.000199681 282 chr2:220353017:A:G 9804_7843_2615_I->V 0.000998403 282 chr2:220353237:T:C 9804_7876_2626_S->P 0.000199681 282 chr2:220353288:A:G 9804_7927_2643_S->G 0.000199681 282 chr2:220353298:G:A 9804_7937_2646_R->Q 0.000399361 282 chr2:220353309:C:T 9804_7948_2650_R->W 0.000199681 282 chr2:220353315:G:A 9804_7954_2652_A->T 0.000599042 282 chr2:220353532:C:A 9804_8059_2687_P->T 0.0844649 282 chr2:220353551:C:T 9804_8078_2693_T->M 0.000199681 282 chr2:220353583:C:T 9804_8110_2704_R->W 0.000199681 282 chr2:220353814:G:A 9804_8188_2730_D->N 0.000599042 282 chr2:220353850:G:A 9804_8224_2742_V->M 0.000199681 282 chr2:220353940:C:G 9804_8314_2772_Q->E 0.000399361 282 chr2:220354061:C:A 9804_8321_2774_S->Y 0.000399361 282 chr2:220354108:A:G 9804_8368_2790_R->G 0.408347 282 chr2:220354150:G:A 9804_8410_2804_A->T 0.000399361 282 chr2:220354184:C:T 9804_8444_2815_P->L 0.000199681 282 chr2:220354243:C:G 9804_8503_2835_L->V 0.000399361 282 chr2:220354280:G:A 9804_8540_2847_R->Q 0.000399361 282 chr2:220354307:G:A 9804_8567_2856_R->Q 0.000399361 282 chr2:220354339:G:A 9804_8599_2867_V->I 0.000199681 282 chr2:220354366:G:A 9804_8626_2876_V->I 0.000199681 282 chr2:220354391:C:T 9804_8651_2884_P->L 0.0207668 282 chr2:220354435:C:T 9804_8695_2899_P->S 0.0103834 282 chr2:220354450:A:G 9804_8710_2904_T->A 0.000599042 282 chr2:220354600:G:A 9804_8860_2954_G->S 0.000199681 282 chr2:220355154:C:A 9804_8945_2982_A->E 0.000199681 282 chr2:220355186:G:A 9804_8977_2993_V->M 0.000599042 282 chr2:220355190:C:T 9804_8981_2994_A->V 0.000399361 282 chr2:220355255:A:T 9804_9046_3016_T->S 0.000199681 282 chr2:220355307:G:A 9804_9098_3033_R->Q 0.000199681 282 chr2:220355343:G:A 9804_9134_3045_R->Q 0.000199681 282 chr2:220355529:A:G 9804_9236_3079_H->R 0.400958 282 chr2:220356545:G:A 9804_9415_3139_G->S 0.000199681 282 chr2:220356877:C:T 9804_9506_3169_T->M 0.00838658 282 chr2:220356901:G:A 9804_9530_3177_R->H 0.000199681 282 chr2:220356946:C:T 9804_9575_3192_T->I 0.000199681 282 chr2:220357350:C:T 9804_9646_3216_P->S 0.000199681 282 chr2:220357365:G:A 9804_9661_3221_A->T 0.000599042 282 chr2:220357414:G:A 9804_9710_3237_R->Q 0.000199681 282 chr2:220357441:G:A 9804_9737_3246_R->Q 0.00119808 282 chr2:220357443:C:T 9804_9739_3247_R->W 0.000199681 282 chr2:220357468:G:A 9804_9764_3255_R->H 0.000798722 282 na12878 Variants: 282 chr2:220353532:C:A 9804_8059_2687_P->T 282 snyder Variants: 282 chr2:220354108:A:G 9804_8368_2790_R->G 282 chr2:220348751:C:T 9804_6566_2189_P->L 282 chr2:220355529:A:G 9804_9236_3079_H->R 283 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163359_ENST00000295550 gene_Name: CO6A3_HUMAN 283 list of pdbs: 283 2KNT pdb_description: 15-May-97 X-ray 1.200 The 1.2 angstrom structure of kunitz type domain c5 283 1KUN pdb_description: 12-Nov-97 NMR 20 Solution structure of the human alpha3-chain type vi collagen c-terminal kunitz domain, nmr, 20 structures 283 1KTH pdb_description: 06-Feb-02 X-ray 0.950 The anisotropic refinement of kunitz type domain c5 at 0.95 angstrom 283 1KNT pdb_description: 01-Nov-94 X-ray 1.600 The 1.6 angstroms structure of the kunitz-type domain from the alpha3 chain of the human type vi collagen 283 Zimmer Variants: 283 chr2:238243464:C:G 9534_9034_3012_A->P 283 chr2:238244963:A:G 9534_8780_2927_M->T 283 chr2:238243292:G:A 9534_9206_3069_T->I 283 HGMD Variants: 283 chr2:238255172:C:A 9534_7066_2356_G->* 283 chr2:238256455:G:A 9534_7024_2342_R->* 283 chr2:238269793:G:A 9534_6181_2061_R->* 283 chr2:238271967:G:A 9534_5992_1998_R->* 283 chr2:238290062:G:A 9534_1393_465_R->* 283 chr2:238305385:G:A 9534_76_26_Q->* 283 chr2:238305408:G:T 9534_53_18_S->* 283 chr2:238243292:G:A 9534_9206_3069_T->I 283 chr2:238243464:C:G 9534_9034_3012_A->P 283 chr2:238244921:G:A 9534_8822_2941_A->V 283 chr2:238244963:A:G 9534_8780_2927_M->T 283 chr2:238249323:C:T 9534_8236_2746_E->K 283 chr2:238249350:T:G 9534_8209_2737_K->Q 283 chr2:238249550:G:A 9534_8009_2670_A->V 283 chr2:238249686:C:A 9534_7873_2625_D->Y 283 chr2:238253214:T:C 9534_7447_2483_K->E 283 chr2:238257027:C:T 9534_6931_2311_G->R 283 chr2:238259777:C:T 9534_6812_2271_R->K 283 chr2:238262021:G:A 9534_6653_2218_P->L 283 chr2:238267721:C:A 9534_6365_2122_G->V 283 chr2:238268021:C:A 9534_6293_2098_G->V 283 chr2:238268030:C:A 9534_6284_2095_G->V 283 chr2:238268774:C:T 9534_6239_2080_G->D 283 chr2:238268775:C:A 9534_6238_2080_G->C 283 chr2:238268783:C:T 9534_6230_2077_G->D 283 chr2:238268784:C:G 9534_6229_2077_G->R 283 chr2:238268789:G:A 9534_6224_2075_P->L 283 chr2:238268792:C:T 9534_6221_2074_G->D 283 chr2:238268793:C:A 9534_6220_2074_G->C 283 chr2:238269775:C:T 9534_6199_2067_E->K 283 chr2:238269780:C:T 9534_6194_2065_G->D 283 chr2:238269799:C:A 9534_6175_2059_G->C 283 chr2:238269808:C:T 9534_6166_2056_G->R 283 chr2:238269816:C:A 9534_6158_2053_G->V 283 chr2:238269817:C:A 9534_6157_2053_G->C 283 chr2:238270398:C:T 9534_6140_2047_G->D 283 chr2:238270399:C:A 9534_6139_2047_G->C 283 chr2:238270408:C:T 9534_6130_2044_G->R 283 chr2:238272006:C:T 9534_5953_1985_V->M 283 chr2:238273002:G:A 9534_5908_1970_R->C 283 chr2:238274654:C:T 9534_5525_1842_G->E 283 chr2:238274655:C:T 9534_5524_1842_G->R 283 chr2:238275569:T:C 9534_5261_1754_K->R 283 chr2:238275653:A:C 9534_5177_1726_L->R 283 chr2:238275794:C:T 9534_5036_1679_G->E 283 chr2:238275795:C:A 9534_5035_1679_G->W 283 chr2:238275810:C:T 9534_5020_1674_D->N 283 chr2:238275902:A:C 9534_4928_1643_L->R 283 chr2:238275918:C:T 9534_4912_1638_A->T 283 chr2:238277293:T:C 9534_4813_1605_I->V 283 chr2:238277670:T:A 9534_4436_1479_Q->L 283 chr2:238277707:T:C 9534_4399_1467_N->D 283 chr2:238280476:C:T 9534_4184_1395_R->Q 283 chr2:238280504:C:T 9534_4156_1386_E->K 283 chr2:238280543:C:T 9534_4117_1373_A->T 283 chr2:238283289:G:A 9534_3445_1149_R->W 283 chr2:238283543:C:T 9534_3191_1064_R->Q 283 chr2:238285445:T:C 9534_3040_1014_K->E 283 chr2:238285621:C:T 9534_2864_955_R->H 283 chr2:238287746:C:T 9534_2030_677_R->H 283 chr2:238289767:T:C 9534_1688_563_D->G 283 chr2:238296321:G:A 9534_1216_406_R->C 283 chr2:238303763:C:T 9534_176_59_R->Q 283 oneKG Variants: 283 chr2:238296445:G:C 9534_1092_364_Y->* 0.000199681 283 chr2:238296699:G:A 9534_838_280_R->* 0.000199681 283 chr2:238303567:G:T 9534_372_124_Y->* 0.000199681 283 chr2:238233427:A:G 9534_9524_3175_M->T 0.000399361 283 chr2:238233443:C:T 9534_9508_3170_G->R 0.000199681 283 chr2:238233452:C:T 9534_9499_3167_A->T 0.000199681 283 chr2:238234209:C:T 9534_9487_3163_A->T 0.000199681 283 chr2:238234302:G:A 9534_9394_3132_P->S 0.000199681 283 chr2:238234352:G:A 9534_9344_3115_P->L 0.000199681 283 chr2:238242129:T:C 9534_9292_3098_M->V 0.000199681 283 chr2:238242176:G:C 9534_9245_3082_P->R 0.000399361 283 chr2:238243289:T:C 9534_9209_3070_Y->C 0.000998403 283 chr2:238243292:G:A 9534_9206_3069_T->I 0.346246 283 chr2:238243350:C:T 9534_9148_3050_A->T 0.00179712 283 chr2:238243370:C:T 9534_9128_3043_R->H 0.00219649 283 chr2:238243371:G:T 9534_9127_3043_R->S 0.000199681 283 chr2:238243382:G:A 9534_9116_3039_T->M 0.000199681 283 chr2:238243391:T:C 9534_9107_3036_Q->R 0.000199681 283 chr2:238243455:G:A 9534_9043_3015_P->S 0.000199681 283 chr2:238243464:C:G 9534_9034_3012_A->P 0.207668 283 chr2:238243467:T:C 9534_9031_3011_R->G 0.000798722 283 chr2:238243481:T:C 9534_9017_3006_K->R 0.00379393 283 chr2:238243485:C:T 9534_9013_3005_A->T 0.000199681 283 chr2:238243502:T:C 9534_8996_2999_E->G 0.000199681 283 chr2:238243520:C:T 9534_8978_2993_R->H 0.000798722 283 chr2:238244781:T:C 9534_8962_2988_M->V 0.0473243 283 chr2:238244819:G:A 9534_8924_2975_A->V 0.000599042 283 chr2:238244889:C:T 9534_8854_2952_V->I 0.000199681 283 chr2:238244921:G:A 9534_8822_2941_A->V 0.0161741 283 chr2:238244924:G:A 9534_8819_2940_T->M 0.000399361 283 chr2:238244939:G:A 9534_8804_2935_A->V 0.000399361 283 chr2:238244945:G:A 9534_8798_2933_P->L 0.000199681 283 chr2:238244963:A:G 9534_8780_2927_M->T 0.363419 283 chr2:238245008:G:A 9534_8735_2912_P->L 0.00678914 283 chr2:238245018:C:T 9534_8725_2909_A->T 0.000199681 283 chr2:238245048:T:C 9534_8695_2899_I->V 0.000199681 283 chr2:238245074:A:G 9534_8669_2890_V->A 0.000199681 283 chr2:238245107:G:A 9534_8636_2879_T->M 0.000798722 283 chr2:238245116:G:A 9534_8627_2876_P->L 0.000199681 283 chr2:238245159:C:T 9534_8584_2862_V->I 0.000399361 283 chr2:238245171:C:T 9534_8572_2858_V->I 0.00319489 283 chr2:238247684:G:C 9534_8541_2847_N->K 0.000199681 283 chr2:238247734:C:G 9534_8491_2831_D->H 0.0325479 283 chr2:238249101:C:T 9534_8458_2820_V->I 0.00399361 283 chr2:238249145:T:C 9534_8414_2805_N->S 0.000199681 283 chr2:238249182:C:T 9534_8377_2793_V->I 0.000199681 283 chr2:238249316:G:A 9534_8243_2748_P->L 0.000399361 283 chr2:238249370:G:T 9534_8189_2730_A->D 0.000199681 283 chr2:238249391:A:G 9534_8168_2723_I->T 0.000199681 283 chr2:238249550:G:A 9534_8009_2670_A->V 0.000199681 283 chr2:238249595:G:A 9534_7964_2655_P->L 0.000199681 283 chr2:238249606:C:T 9534_7953_2651_M->I 0.000798722 283 chr2:238249631:G:A 9534_7928_2643_A->V 0.00439297 283 chr2:238249710:C:T 9534_7849_2617_D->N 0.00199681 283 chr2:238249727:G:A 9534_7832_2611_A->V 0.000199681 283 chr2:238250788:A:G 9534_7685_2562_V->A 0.000199681 283 chr2:238250803:A:T 9534_7670_2557_I->N 0.000199681 283 chr2:238253015:C:T 9534_7646_2549_R->Q 0.000199681 283 chr2:238253016:G:A 9534_7645_2549_R->W 0.00199681 283 chr2:238253072:A:G 9534_7589_2530_V->A 0.000199681 283 chr2:238253123:A:C 9534_7538_2513_V->G 0.028754 283 chr2:238253148:C:T 9534_7513_2505_G->R 0.000199681 283 chr2:238253159:C:T 9534_7502_2501_R->H 0.000199681 283 chr2:238253220:T:C 9534_7441_2481_T->A 0.000399361 283 chr2:238253259:C:T 9534_7402_2468_V->I 0.000199681 283 chr2:238253261:G:A 9534_7400_2467_S->L 0.00179712 283 chr2:238253280:C:G 9534_7381_2461_A->P 0.000199681 283 chr2:238253301:C:T 9534_7360_2454_V->M 0.000199681 283 chr2:238253333:G:A 9534_7328_2443_A->V 0.000199681 283 chr2:238253403:G:A 9534_7258_2420_R->W 0.000599042 283 chr2:238253437:G:C 9534_7224_2408_D->E 0.000199681 283 chr2:238255187:T:G 9534_7051_2351_I->L 0.000599042 283 chr2:238256450:C:A 9534_7029_2343_R->S 0.000199681 283 chr2:238256472:G:A 9534_7007_2336_P->L 0.000399361 283 chr2:238257284:A:G 9534_6902_2301_V->A 0.000199681 283 chr2:238258792:T:C 9534_6877_2293_T->A 0.000199681 283 chr2:238258800:C:T 9534_6869_2290_R->H 0.000199681 283 chr2:238258801:G:A 9534_6868_2290_R->C 0.000199681 283 chr2:238259829:C:T 9534_6760_2254_G->R 0.000199681 283 chr2:238259835:C:T 9534_6754_2252_G->R 0.000199681 283 chr2:238261167:G:A 9534_6751_2251_R->W 0.000599042 283 chr2:238262021:G:A 9534_6653_2218_P->L 0.0740815 283 chr2:238266491:G:C 9534_6506_2169_P->R 0.000399361 283 chr2:238267208:C:T 9534_6427_2143_G->R 0.000199681 283 chr2:238268795:C:T 9534_6218_2073_R->H 0.000199681 283 chr2:238271906:G:A 9534_6053_2018_A->V 0.000998403 283 chr2:238271984:A:G 9534_5975_1992_M->T 0.000599042 283 chr2:238271991:G:A 9534_5968_1990_R->W 0.00199681 283 chr2:238272002:A:C 9534_5957_1986_V->G 0.000199681 283 chr2:238272035:C:T 9534_5924_1975_R->H 0.000798722 283 chr2:238273014:A:C 9534_5896_1966_S->A 0.000199681 283 chr2:238273031:G:A 9534_5879_1960_A->V 0.000199681 283 chr2:238274346:C:T 9534_5833_1945_V->M 0.000399361 283 chr2:238274534:G:A 9534_5645_1882_S->L 0.000199681 283 chr2:238274569:G:T 9534_5610_1870_S->R 0.000599042 283 chr2:238274570:C:T 9534_5609_1870_S->N 0.00119808 283 chr2:238274624:A:G 9534_5555_1852_F->S 0.000199681 283 chr2:238274632:C:G 9534_5547_1849_Q->H 0.000199681 283 chr2:238274637:C:T 9534_5542_1848_D->N 0.000199681 283 chr2:238275360:G:A 9534_5470_1824_L->F 0.00139776 283 chr2:238275368:T:C 9534_5462_1821_H->R 0.000199681 283 chr2:238275513:C:T 9534_5317_1773_V->M 0.000199681 283 chr2:238275558:C:T 9534_5272_1758_D->N 0.000199681 283 chr2:238275569:T:C 9534_5261_1754_K->R 0.00199681 283 chr2:238275578:G:A 9534_5252_1751_T->M 0.000199681 283 chr2:238275600:G:A 9534_5230_1744_P->S 0.000199681 283 chr2:238275651:G:A 9534_5179_1727_R->W 0.000199681 283 chr2:238275674:G:A 9534_5156_1719_T->I 0.000199681 283 chr2:238275771:G:A 9534_5059_1687_P->S 0.00738818 283 chr2:238275918:C:T 9534_4912_1638_A->T 0.000798722 283 chr2:238277211:C:T 9534_4895_1632_R->Q 0.0169728 283 chr2:238277218:G:A 9534_4888_1630_P->S 0.000599042 283 chr2:238277226:G:T 9534_4880_1627_T->N 0.000199681 283 chr2:238277233:C:A 9534_4873_1625_V->L 0.000199681 283 chr2:238277257:C:T 9534_4849_1617_A->T 0.000199681 283 chr2:238277271:G:A 9534_4835_1612_S->L 0.000798722 283 chr2:238277379:C:T 9534_4727_1576_R->Q 0.00379393 283 chr2:238277416:G:T 9534_4690_1564_R->S 0.000199681 283 chr2:238277464:G:C 9534_4642_1548_L->V 0.000199681 283 chr2:238277502:C:T 9534_4604_1535_R->H 0.000199681 283 chr2:238277658:T:A 9534_4448_1483_D->V 0.000199681 283 chr2:238277797:T:C 9534_4309_1437_I->V 0.000199681 283 chr2:238280443:G:A 9534_4217_1406_T->M 0.00179712 283 chr2:238280476:C:T 9534_4184_1395_R->Q 0.0181709 283 chr2:238280477:G:A 9534_4183_1395_R->W 0.00479233 283 chr2:238280491:G:A 9534_4169_1390_S->L 0.00199681 283 chr2:238280504:C:T 9534_4156_1386_E->K 0.00179712 283 chr2:238280543:C:T 9534_4117_1373_A->T 0.000998403 283 chr2:238280570:C:T 9534_4090_1364_V->M 0.000998403 283 chr2:238280654:C:T 9534_4006_1336_V->I 0.000998403 283 chr2:238280758:C:T 9534_3902_1301_R->Q 0.000798722 283 chr2:238280764:A:G 9534_3896_1299_V->A 0.000199681 283 chr2:238280767:G:A 9534_3893_1298_A->V 0.000399361 283 chr2:238280781:A:C 9534_3879_1293_D->E 0.00439297 283 chr2:238280816:C:T 9534_3844_1282_V->M 0.000199681 283 chr2:238280840:T:C 9534_3820_1274_I->V 0.000199681 283 chr2:238280870:C:T 9534_3790_1264_V->M 0.000199681 283 chr2:238280905:C:T 9534_3755_1252_R->H 0.000199681 283 chr2:238280919:C:G 9534_3741_1247_E->D 0.000199681 283 chr2:238280945:C:T 9534_3715_1239_D->N 0.000199681 283 chr2:238283083:C:A 9534_3651_1217_Q->H 0.000399361 283 chr2:238283249:G:A 9534_3485_1162_P->L 0.000199681 283 chr2:238283288:C:T 9534_3446_1149_R->Q 0.00179712 283 chr2:238283289:G:A 9534_3445_1149_R->W 0.000399361 283 chr2:238283305:C:A 9534_3429_1143_R->S 0.000199681 283 chr2:238283315:G:A 9534_3419_1140_T->M 0.000399361 283 chr2:238283322:C:T 9534_3412_1138_V->I 0.000199681 283 chr2:238283363:G:A 9534_3371_1124_A->V 0.000199681 283 chr2:238283403:C:T 9534_3331_1111_A->T 0.000199681 283 chr2:238283448:G:A 9534_3286_1096_R->C 0.000798722 283 chr2:238283460:C:T 9534_3274_1092_V->I 0.000199681 283 chr2:238283472:T:G 9534_3262_1088_K->Q 0.0748802 283 chr2:238283511:G:A 9534_3223_1075_R->W 0.000199681 283 chr2:238283529:C:T 9534_3205_1069_V->M 0.00119808 283 chr2:238283535:C:T 9534_3199_1067_V->M 0.000199681 283 chr2:238283543:C:T 9534_3191_1064_R->Q 0.00479233 283 chr2:238283570:A:T 9534_3164_1055_V->E 0.000199681 283 chr2:238283616:C:T 9534_3118_1040_V->I 0.000199681 283 chr2:238283646:C:T 9534_3088_1030_V->M 0.00159744 283 chr2:238285418:G:A 9534_3067_1023_P->S 0.000399361 283 chr2:238285445:T:C 9534_3040_1014_K->E 0.000199681 283 chr2:238285567:A:T 9534_2918_973_F->Y 0.000199681 283 chr2:238285583:C:T 9534_2902_968_V->I 0.000399361 283 chr2:238285606:G:C 9534_2879_960_A->G 0.000399361 283 chr2:238285615:T:C 9534_2870_957_D->G 0.000199681 283 chr2:238285691:C:G 9534_2794_932_A->P 0.000199681 283 chr2:238285729:G:A 9534_2756_919_A->V 0.000199681 283 chr2:238285756:G:A 9534_2729_910_T->M 0.000199681 283 chr2:238285796:G:C 9534_2689_897_P->A 0.000199681 283 chr2:238285820:G:A 9534_2665_889_R->C 0.000199681 283 chr2:238285910:G:A 9534_2575_859_L->F 0.000199681 283 chr2:238285958:C:G 9534_2527_843_D->H 0.000199681 283 chr2:238287281:G:A 9534_2495_832_P->L 0.000199681 283 chr2:238287288:C:A 9534_2488_830_A->S 0.0265575 283 chr2:238287357:C:T 9534_2419_807_A->T 0.0265575 283 chr2:238287434:G:A 9534_2342_781_A->V 0.000399361 283 chr2:238287456:A:G 9534_2320_774_F->L 0.000798722 283 chr2:238287471:C:T 9534_2305_769_A->T 0.000199681 283 chr2:238287474:G:A 9534_2302_768_R->C 0.000199681 283 chr2:238287507:C:T 9534_2269_757_D->N 0.000399361 283 chr2:238287545:G:A 9534_2231_744_P->L 0.000199681 283 chr2:238287557:C:T 9534_2219_740_R->H 0.000199681 283 chr2:238287558:G:A 9534_2218_740_R->C 0.000399361 283 chr2:238287629:C:T 9534_2147_716_G->D 0.000399361 283 chr2:238287639:C:T 9534_2137_713_G->R 0.000199681 283 chr2:238287741:C:A 9534_2035_679_G->C 0.000199681 283 chr2:238287746:C:T 9534_2030_677_R->H 0.00379393 283 chr2:238287791:A:G 9534_1985_662_V->A 0.000199681 283 chr2:238287800:C:T 9534_1976_659_R->H 0.023762 283 chr2:238287801:G:A 9534_1975_659_R->C 0.000199681 283 chr2:238289569:C:T 9534_1886_629_G->E 0.000199681 283 chr2:238289629:C:T 9534_1826_609_R->Q 0.000599042 283 chr2:238289669:C:A 9534_1786_596_A->S 0.01877 283 chr2:238289767:T:C 9534_1688_563_D->G 0.000399361 283 chr2:238289828:A:G 9534_1627_543_Y->H 0.000199681 283 chr2:238289842:G:A 9534_1613_538_T->M 0.00878594 283 chr2:238289893:G:A 9534_1562_521_S->L 0.000998403 283 chr2:238289956:T:C 9534_1499_500_N->S 0.000199681 283 chr2:238289977:A:G 9534_1478_493_V->A 0.00199681 283 chr2:238289980:G:C 9534_1475_492_T->S 0.00359425 283 chr2:238289984:C:G 9534_1471_491_D->H 0.00359425 283 chr2:238290082:A:T 9534_1373_458_L->Q 0.000199681 283 chr2:238296269:G:A 9534_1268_423_A->V 0.000199681 283 chr2:238296273:C:T 9534_1264_422_V->M 0.00199681 283 chr2:238296305:A:G 9534_1232_411_L->P 0.000199681 283 chr2:238296306:G:C 9534_1231_411_L->V 0.00179712 283 chr2:238296309:C:T 9534_1228_410_D->N 0.000399361 283 chr2:238296321:G:A 9534_1216_406_R->C 0.000199681 283 chr2:238296323:A:G 9534_1214_405_F->S 0.000798722 283 chr2:238296329:G:A 9534_1208_403_P->L 0.000599042 283 chr2:238296330:G:A 9534_1207_403_P->S 0.000199681 283 chr2:238296389:G:A 9534_1148_383_A->V 0.000199681 283 chr2:238296456:C:T 9534_1081_361_E->K 0.000199681 283 chr2:238296462:T:C 9534_1075_359_S->G 0.000399361 283 chr2:238296471:C:T 9534_1066_356_G->R 0.000199681 283 chr2:238296474:C:T 9534_1063_355_A->T 0.000399361 283 chr2:238296513:C:T 9534_1024_342_V->M 0.000798722 283 chr2:238296552:C:T 9534_985_329_V->M 0.000199681 283 chr2:238296579:C:T 9534_958_320_A->T 0.000798722 283 chr2:238296587:C:T 9534_950_317_G->E 0.000199681 283 chr2:238296624:C:T 9534_913_305_V->I 0.000199681 283 chr2:238296641:T:C 9534_896_299_Y->C 0.000199681 283 chr2:238296675:C:T 9534_862_288_D->N 0.000998403 283 chr2:238296698:C:A 9534_839_280_R->L 0.000199681 283 chr2:238296761:G:A 9534_776_259_A->V 0.000199681 283 chr2:238296762:C:T 9534_775_259_A->T 0.000199681 283 chr2:238296777:C:T 9534_760_254_G->R 0.000199681 283 chr2:238296779:G:T 9534_758_253_T->N 0.000199681 283 chr2:238296807:T:C 9534_730_244_I->V 0.00279553 283 chr2:238296822:C:T 9534_715_239_D->N 0.000199681 283 chr2:238303336:C:A 9534_603_201_E->D 0.000199681 283 chr2:238303364:G:C 9534_575_192_P->R 0.000199681 283 chr2:238303451:G:A 9534_488_163_A->V 0.000599042 283 chr2:238303472:T:G 9534_467_156_D->A 0.000399361 283 chr2:238303473:C:A 9534_466_156_D->Y 0.000199681 283 chr2:238303530:G:A 9534_409_137_R->W 0.000199681 283 chr2:238303647:T:A 9534_292_98_T->S 0.00179712 283 chr2:238303649:C:T 9534_290_97_R->H 0.000199681 283 chr2:238303785:C:T 9534_154_52_E->K 0.000399361 283 chr2:238303793:G:A 9534_146_49_T->I 0.000199681 283 chr2:238303832:G:A 9534_107_36_A->V 0.000199681 283 chr2:238305427:C:T 9534_34_12_V->I 0.00339457 283 na12878 Variants: 283 chr2:238243464:C:G 9534_9034_3012_A->P 283 chr2:238244963:A:G 9534_8780_2927_M->T 283 chr2:238243292:G:A 9534_9206_3069_T->I 283 chr2:238244781:T:C 9534_8962_2988_M->V 283 snyder Variants: 283 chr2:238243464:C:G 9534_9034_3012_A->P 283 chr2:238244963:A:G 9534_8780_2927_M->T 283 chr2:238243292:G:A 9534_9206_3069_T->I 284 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163359_ENST00000353578 gene_Name: CO6A3_HUMAN 284 list of pdbs: 284 2KNT pdb_description: 15-May-97 X-ray 1.200 The 1.2 angstrom structure of kunitz type domain c5 284 1KUN pdb_description: 12-Nov-97 NMR 20 Solution structure of the human alpha3-chain type vi collagen c-terminal kunitz domain, nmr, 20 structures 284 1KTH pdb_description: 06-Feb-02 X-ray 0.950 The anisotropic refinement of kunitz type domain c5 at 0.95 angstrom 284 1KNT pdb_description: 01-Nov-94 X-ray 1.600 The 1.6 angstroms structure of the kunitz-type domain from the alpha3 chain of the human type vi collagen 284 Zimmer Variants: 284 chr2:238243464:C:G 8916_8416_2806_A->P 284 chr2:238244963:A:G 8916_8162_2721_M->T 284 chr2:238243292:G:A 8916_8588_2863_T->I 284 HGMD Variants: 284 chr2:238255172:C:A 8916_6448_2150_G->* 284 chr2:238256455:G:A 8916_6406_2136_R->* 284 chr2:238269793:G:A 8916_5563_1855_R->* 284 chr2:238271967:G:A 8916_5374_1792_R->* 284 chr2:238290062:G:A 8916_775_259_R->* 284 chr2:238305385:G:A 8916_76_26_Q->* 284 chr2:238305408:G:T 8916_53_18_S->* 284 chr2:238243292:G:A 8916_8588_2863_T->I 284 chr2:238243464:C:G 8916_8416_2806_A->P 284 chr2:238244921:G:A 8916_8204_2735_A->V 284 chr2:238244963:A:G 8916_8162_2721_M->T 284 chr2:238249323:C:T 8916_7618_2540_E->K 284 chr2:238249350:T:G 8916_7591_2531_K->Q 284 chr2:238249550:G:A 8916_7391_2464_A->V 284 chr2:238249686:C:A 8916_7255_2419_D->Y 284 chr2:238253214:T:C 8916_6829_2277_K->E 284 chr2:238257027:C:T 8916_6313_2105_G->R 284 chr2:238259777:C:T 8916_6194_2065_R->K 284 chr2:238262021:G:A 8916_6035_2012_P->L 284 chr2:238267721:C:A 8916_5747_1916_G->V 284 chr2:238268021:C:A 8916_5675_1892_G->V 284 chr2:238268030:C:A 8916_5666_1889_G->V 284 chr2:238268774:C:T 8916_5621_1874_G->D 284 chr2:238268775:C:A 8916_5620_1874_G->C 284 chr2:238268783:C:T 8916_5612_1871_G->D 284 chr2:238268784:C:G 8916_5611_1871_G->R 284 chr2:238268789:G:A 8916_5606_1869_P->L 284 chr2:238268792:C:T 8916_5603_1868_G->D 284 chr2:238268793:C:A 8916_5602_1868_G->C 284 chr2:238269775:C:T 8916_5581_1861_E->K 284 chr2:238269780:C:T 8916_5576_1859_G->D 284 chr2:238269799:C:A 8916_5557_1853_G->C 284 chr2:238269808:C:T 8916_5548_1850_G->R 284 chr2:238269816:C:A 8916_5540_1847_G->V 284 chr2:238269817:C:A 8916_5539_1847_G->C 284 chr2:238270398:C:T 8916_5522_1841_G->D 284 chr2:238270399:C:A 8916_5521_1841_G->C 284 chr2:238270408:C:T 8916_5512_1838_G->R 284 chr2:238272006:C:T 8916_5335_1779_V->M 284 chr2:238273002:G:A 8916_5290_1764_R->C 284 chr2:238274654:C:T 8916_4907_1636_G->E 284 chr2:238274655:C:T 8916_4906_1636_G->R 284 chr2:238275569:T:C 8916_4643_1548_K->R 284 chr2:238275653:A:C 8916_4559_1520_L->R 284 chr2:238275794:C:T 8916_4418_1473_G->E 284 chr2:238275795:C:A 8916_4417_1473_G->W 284 chr2:238275810:C:T 8916_4402_1468_D->N 284 chr2:238275902:A:C 8916_4310_1437_L->R 284 chr2:238275918:C:T 8916_4294_1432_A->T 284 chr2:238277293:T:C 8916_4195_1399_I->V 284 chr2:238277670:T:A 8916_3818_1273_Q->L 284 chr2:238277707:T:C 8916_3781_1261_N->D 284 chr2:238280476:C:T 8916_3566_1189_R->Q 284 chr2:238280504:C:T 8916_3538_1180_E->K 284 chr2:238280543:C:T 8916_3499_1167_A->T 284 chr2:238283289:G:A 8916_2827_943_R->W 284 chr2:238283543:C:T 8916_2573_858_R->Q 284 chr2:238285445:T:C 8916_2422_808_K->E 284 chr2:238285621:C:T 8916_2246_749_R->H 284 chr2:238287746:C:T 8916_1412_471_R->H 284 chr2:238289767:T:C 8916_1070_357_D->G 284 chr2:238296321:G:A 8916_598_200_R->C 284 oneKG Variants: 284 chr2:238296445:G:C 8916_474_158_Y->* 0.000199681 284 chr2:238296699:G:A 8916_220_74_R->* 0.000199681 284 chr2:238233427:A:G 8916_8906_2969_M->T 0.000399361 284 chr2:238233443:C:T 8916_8890_2964_G->R 0.000199681 284 chr2:238233452:C:T 8916_8881_2961_A->T 0.000199681 284 chr2:238234209:C:T 8916_8869_2957_A->T 0.000199681 284 chr2:238234302:G:A 8916_8776_2926_P->S 0.000199681 284 chr2:238234352:G:A 8916_8726_2909_P->L 0.000199681 284 chr2:238242129:T:C 8916_8674_2892_M->V 0.000199681 284 chr2:238242176:G:C 8916_8627_2876_P->R 0.000399361 284 chr2:238243289:T:C 8916_8591_2864_Y->C 0.000998403 284 chr2:238243292:G:A 8916_8588_2863_T->I 0.346246 284 chr2:238243350:C:T 8916_8530_2844_A->T 0.00179712 284 chr2:238243370:C:T 8916_8510_2837_R->H 0.00219649 284 chr2:238243371:G:T 8916_8509_2837_R->S 0.000199681 284 chr2:238243382:G:A 8916_8498_2833_T->M 0.000199681 284 chr2:238243391:T:C 8916_8489_2830_Q->R 0.000199681 284 chr2:238243455:G:A 8916_8425_2809_P->S 0.000199681 284 chr2:238243464:C:G 8916_8416_2806_A->P 0.207668 284 chr2:238243467:T:C 8916_8413_2805_R->G 0.000798722 284 chr2:238243481:T:C 8916_8399_2800_K->R 0.00379393 284 chr2:238243485:C:T 8916_8395_2799_A->T 0.000199681 284 chr2:238243502:T:C 8916_8378_2793_E->G 0.000199681 284 chr2:238243520:C:T 8916_8360_2787_R->H 0.000798722 284 chr2:238244781:T:C 8916_8344_2782_M->V 0.0473243 284 chr2:238244819:G:A 8916_8306_2769_A->V 0.000599042 284 chr2:238244889:C:T 8916_8236_2746_V->I 0.000199681 284 chr2:238244921:G:A 8916_8204_2735_A->V 0.0161741 284 chr2:238244924:G:A 8916_8201_2734_T->M 0.000399361 284 chr2:238244939:G:A 8916_8186_2729_A->V 0.000399361 284 chr2:238244945:G:A 8916_8180_2727_P->L 0.000199681 284 chr2:238244963:A:G 8916_8162_2721_M->T 0.363419 284 chr2:238245008:G:A 8916_8117_2706_P->L 0.00678914 284 chr2:238245018:C:T 8916_8107_2703_A->T 0.000199681 284 chr2:238245048:T:C 8916_8077_2693_I->V 0.000199681 284 chr2:238245074:A:G 8916_8051_2684_V->A 0.000199681 284 chr2:238245107:G:A 8916_8018_2673_T->M 0.000798722 284 chr2:238245116:G:A 8916_8009_2670_P->L 0.000199681 284 chr2:238245159:C:T 8916_7966_2656_V->I 0.000399361 284 chr2:238245171:C:T 8916_7954_2652_V->I 0.00319489 284 chr2:238247684:G:C 8916_7923_2641_N->K 0.000199681 284 chr2:238247734:C:G 8916_7873_2625_D->H 0.0325479 284 chr2:238249101:C:T 8916_7840_2614_V->I 0.00399361 284 chr2:238249145:T:C 8916_7796_2599_N->S 0.000199681 284 chr2:238249182:C:T 8916_7759_2587_V->I 0.000199681 284 chr2:238249316:G:A 8916_7625_2542_P->L 0.000399361 284 chr2:238249370:G:T 8916_7571_2524_A->D 0.000199681 284 chr2:238249391:A:G 8916_7550_2517_I->T 0.000199681 284 chr2:238249550:G:A 8916_7391_2464_A->V 0.000199681 284 chr2:238249595:G:A 8916_7346_2449_P->L 0.000199681 284 chr2:238249606:C:T 8916_7335_2445_M->I 0.000798722 284 chr2:238249631:G:A 8916_7310_2437_A->V 0.00439297 284 chr2:238249710:C:T 8916_7231_2411_D->N 0.00199681 284 chr2:238249727:G:A 8916_7214_2405_A->V 0.000199681 284 chr2:238250788:A:G 8916_7067_2356_V->A 0.000199681 284 chr2:238250803:A:T 8916_7052_2351_I->N 0.000199681 284 chr2:238253015:C:T 8916_7028_2343_R->Q 0.000199681 284 chr2:238253016:G:A 8916_7027_2343_R->W 0.00199681 284 chr2:238253072:A:G 8916_6971_2324_V->A 0.000199681 284 chr2:238253123:A:C 8916_6920_2307_V->G 0.028754 284 chr2:238253148:C:T 8916_6895_2299_G->R 0.000199681 284 chr2:238253159:C:T 8916_6884_2295_R->H 0.000199681 284 chr2:238253220:T:C 8916_6823_2275_T->A 0.000399361 284 chr2:238253259:C:T 8916_6784_2262_V->I 0.000199681 284 chr2:238253261:G:A 8916_6782_2261_S->L 0.00179712 284 chr2:238253280:C:G 8916_6763_2255_A->P 0.000199681 284 chr2:238253301:C:T 8916_6742_2248_V->M 0.000199681 284 chr2:238253333:G:A 8916_6710_2237_A->V 0.000199681 284 chr2:238253403:G:A 8916_6640_2214_R->W 0.000599042 284 chr2:238253437:G:C 8916_6606_2202_D->E 0.000199681 284 chr2:238255187:T:G 8916_6433_2145_I->L 0.000599042 284 chr2:238256450:C:A 8916_6411_2137_R->S 0.000199681 284 chr2:238256472:G:A 8916_6389_2130_P->L 0.000399361 284 chr2:238257284:A:G 8916_6284_2095_V->A 0.000199681 284 chr2:238258792:T:C 8916_6259_2087_T->A 0.000199681 284 chr2:238258800:C:T 8916_6251_2084_R->H 0.000199681 284 chr2:238258801:G:A 8916_6250_2084_R->C 0.000199681 284 chr2:238259829:C:T 8916_6142_2048_G->R 0.000199681 284 chr2:238259835:C:T 8916_6136_2046_G->R 0.000199681 284 chr2:238261167:G:A 8916_6133_2045_R->W 0.000599042 284 chr2:238262021:G:A 8916_6035_2012_P->L 0.0740815 284 chr2:238266491:G:C 8916_5888_1963_P->R 0.000399361 284 chr2:238267208:C:T 8916_5809_1937_G->R 0.000199681 284 chr2:238268795:C:T 8916_5600_1867_R->H 0.000199681 284 chr2:238271906:G:A 8916_5435_1812_A->V 0.000998403 284 chr2:238271984:A:G 8916_5357_1786_M->T 0.000599042 284 chr2:238271991:G:A 8916_5350_1784_R->W 0.00199681 284 chr2:238272002:A:C 8916_5339_1780_V->G 0.000199681 284 chr2:238272035:C:T 8916_5306_1769_R->H 0.000798722 284 chr2:238273014:A:C 8916_5278_1760_S->A 0.000199681 284 chr2:238273031:G:A 8916_5261_1754_A->V 0.000199681 284 chr2:238274346:C:T 8916_5215_1739_V->M 0.000399361 284 chr2:238274534:G:A 8916_5027_1676_S->L 0.000199681 284 chr2:238274569:G:T 8916_4992_1664_S->R 0.000599042 284 chr2:238274570:C:T 8916_4991_1664_S->N 0.00119808 284 chr2:238274624:A:G 8916_4937_1646_F->S 0.000199681 284 chr2:238274632:C:G 8916_4929_1643_Q->H 0.000199681 284 chr2:238274637:C:T 8916_4924_1642_D->N 0.000199681 284 chr2:238275360:G:A 8916_4852_1618_L->F 0.00139776 284 chr2:238275368:T:C 8916_4844_1615_H->R 0.000199681 284 chr2:238275513:C:T 8916_4699_1567_V->M 0.000199681 284 chr2:238275558:C:T 8916_4654_1552_D->N 0.000199681 284 chr2:238275569:T:C 8916_4643_1548_K->R 0.00199681 284 chr2:238275578:G:A 8916_4634_1545_T->M 0.000199681 284 chr2:238275600:G:A 8916_4612_1538_P->S 0.000199681 284 chr2:238275651:G:A 8916_4561_1521_R->W 0.000199681 284 chr2:238275674:G:A 8916_4538_1513_T->I 0.000199681 284 chr2:238275771:G:A 8916_4441_1481_P->S 0.00738818 284 chr2:238275918:C:T 8916_4294_1432_A->T 0.000798722 284 chr2:238277211:C:T 8916_4277_1426_R->Q 0.0169728 284 chr2:238277218:G:A 8916_4270_1424_P->S 0.000599042 284 chr2:238277226:G:T 8916_4262_1421_T->N 0.000199681 284 chr2:238277233:C:A 8916_4255_1419_V->L 0.000199681 284 chr2:238277257:C:T 8916_4231_1411_A->T 0.000199681 284 chr2:238277271:G:A 8916_4217_1406_S->L 0.000798722 284 chr2:238277379:C:T 8916_4109_1370_R->Q 0.00379393 284 chr2:238277416:G:T 8916_4072_1358_R->S 0.000199681 284 chr2:238277464:G:C 8916_4024_1342_L->V 0.000199681 284 chr2:238277502:C:T 8916_3986_1329_R->H 0.000199681 284 chr2:238277658:T:A 8916_3830_1277_D->V 0.000199681 284 chr2:238277797:T:C 8916_3691_1231_I->V 0.000199681 284 chr2:238280443:G:A 8916_3599_1200_T->M 0.00179712 284 chr2:238280476:C:T 8916_3566_1189_R->Q 0.0181709 284 chr2:238280477:G:A 8916_3565_1189_R->W 0.00479233 284 chr2:238280491:G:A 8916_3551_1184_S->L 0.00199681 284 chr2:238280504:C:T 8916_3538_1180_E->K 0.00179712 284 chr2:238280543:C:T 8916_3499_1167_A->T 0.000998403 284 chr2:238280570:C:T 8916_3472_1158_V->M 0.000998403 284 chr2:238280654:C:T 8916_3388_1130_V->I 0.000998403 284 chr2:238280758:C:T 8916_3284_1095_R->Q 0.000798722 284 chr2:238280764:A:G 8916_3278_1093_V->A 0.000199681 284 chr2:238280767:G:A 8916_3275_1092_A->V 0.000399361 284 chr2:238280781:A:C 8916_3261_1087_D->E 0.00439297 284 chr2:238280816:C:T 8916_3226_1076_V->M 0.000199681 284 chr2:238280840:T:C 8916_3202_1068_I->V 0.000199681 284 chr2:238280870:C:T 8916_3172_1058_V->M 0.000199681 284 chr2:238280905:C:T 8916_3137_1046_R->H 0.000199681 284 chr2:238280919:C:G 8916_3123_1041_E->D 0.000199681 284 chr2:238280945:C:T 8916_3097_1033_D->N 0.000199681 284 chr2:238283083:C:A 8916_3033_1011_Q->H 0.000399361 284 chr2:238283249:G:A 8916_2867_956_P->L 0.000199681 284 chr2:238283288:C:T 8916_2828_943_R->Q 0.00179712 284 chr2:238283289:G:A 8916_2827_943_R->W 0.000399361 284 chr2:238283305:C:A 8916_2811_937_R->S 0.000199681 284 chr2:238283315:G:A 8916_2801_934_T->M 0.000399361 284 chr2:238283322:C:T 8916_2794_932_V->I 0.000199681 284 chr2:238283363:G:A 8916_2753_918_A->V 0.000199681 284 chr2:238283403:C:T 8916_2713_905_A->T 0.000199681 284 chr2:238283448:G:A 8916_2668_890_R->C 0.000798722 284 chr2:238283460:C:T 8916_2656_886_V->I 0.000199681 284 chr2:238283472:T:G 8916_2644_882_K->Q 0.0748802 284 chr2:238283511:G:A 8916_2605_869_R->W 0.000199681 284 chr2:238283529:C:T 8916_2587_863_V->M 0.00119808 284 chr2:238283535:C:T 8916_2581_861_V->M 0.000199681 284 chr2:238283543:C:T 8916_2573_858_R->Q 0.00479233 284 chr2:238283570:A:T 8916_2546_849_V->E 0.000199681 284 chr2:238283616:C:T 8916_2500_834_V->I 0.000199681 284 chr2:238283646:C:T 8916_2470_824_V->M 0.00159744 284 chr2:238285418:G:A 8916_2449_817_P->S 0.000399361 284 chr2:238285445:T:C 8916_2422_808_K->E 0.000199681 284 chr2:238285567:A:T 8916_2300_767_F->Y 0.000199681 284 chr2:238285583:C:T 8916_2284_762_V->I 0.000399361 284 chr2:238285606:G:C 8916_2261_754_A->G 0.000399361 284 chr2:238285615:T:C 8916_2252_751_D->G 0.000199681 284 chr2:238285691:C:G 8916_2176_726_A->P 0.000199681 284 chr2:238285729:G:A 8916_2138_713_A->V 0.000199681 284 chr2:238285756:G:A 8916_2111_704_T->M 0.000199681 284 chr2:238285796:G:C 8916_2071_691_P->A 0.000199681 284 chr2:238285820:G:A 8916_2047_683_R->C 0.000199681 284 chr2:238285910:G:A 8916_1957_653_L->F 0.000199681 284 chr2:238285958:C:G 8916_1909_637_D->H 0.000199681 284 chr2:238287281:G:A 8916_1877_626_P->L 0.000199681 284 chr2:238287288:C:A 8916_1870_624_A->S 0.0265575 284 chr2:238287357:C:T 8916_1801_601_A->T 0.0265575 284 chr2:238287434:G:A 8916_1724_575_A->V 0.000399361 284 chr2:238287456:A:G 8916_1702_568_F->L 0.000798722 284 chr2:238287471:C:T 8916_1687_563_A->T 0.000199681 284 chr2:238287474:G:A 8916_1684_562_R->C 0.000199681 284 chr2:238287507:C:T 8916_1651_551_D->N 0.000399361 284 chr2:238287545:G:A 8916_1613_538_P->L 0.000199681 284 chr2:238287557:C:T 8916_1601_534_R->H 0.000199681 284 chr2:238287558:G:A 8916_1600_534_R->C 0.000399361 284 chr2:238287629:C:T 8916_1529_510_G->D 0.000399361 284 chr2:238287639:C:T 8916_1519_507_G->R 0.000199681 284 chr2:238287741:C:A 8916_1417_473_G->C 0.000199681 284 chr2:238287746:C:T 8916_1412_471_R->H 0.00379393 284 chr2:238287791:A:G 8916_1367_456_V->A 0.000199681 284 chr2:238287800:C:T 8916_1358_453_R->H 0.023762 284 chr2:238287801:G:A 8916_1357_453_R->C 0.000199681 284 chr2:238289569:C:T 8916_1268_423_G->E 0.000199681 284 chr2:238289629:C:T 8916_1208_403_R->Q 0.000599042 284 chr2:238289669:C:A 8916_1168_390_A->S 0.01877 284 chr2:238289767:T:C 8916_1070_357_D->G 0.000399361 284 chr2:238289828:A:G 8916_1009_337_Y->H 0.000199681 284 chr2:238289842:G:A 8916_995_332_T->M 0.00878594 284 chr2:238289893:G:A 8916_944_315_S->L 0.000998403 284 chr2:238289956:T:C 8916_881_294_N->S 0.000199681 284 chr2:238289977:A:G 8916_860_287_V->A 0.00199681 284 chr2:238289980:G:C 8916_857_286_T->S 0.00359425 284 chr2:238289984:C:G 8916_853_285_D->H 0.00359425 284 chr2:238290082:A:T 8916_755_252_L->Q 0.000199681 284 chr2:238296269:G:A 8916_650_217_A->V 0.000199681 284 chr2:238296273:C:T 8916_646_216_V->M 0.00199681 284 chr2:238296305:A:G 8916_614_205_L->P 0.000199681 284 chr2:238296306:G:C 8916_613_205_L->V 0.00179712 284 chr2:238296309:C:T 8916_610_204_D->N 0.000399361 284 chr2:238296321:G:A 8916_598_200_R->C 0.000199681 284 chr2:238296323:A:G 8916_596_199_F->S 0.000798722 284 chr2:238296329:G:A 8916_590_197_P->L 0.000599042 284 chr2:238296330:G:A 8916_589_197_P->S 0.000199681 284 chr2:238296389:G:A 8916_530_177_A->V 0.000199681 284 chr2:238296456:C:T 8916_463_155_E->K 0.000199681 284 chr2:238296462:T:C 8916_457_153_S->G 0.000399361 284 chr2:238296471:C:T 8916_448_150_G->R 0.000199681 284 chr2:238296474:C:T 8916_445_149_A->T 0.000399361 284 chr2:238296513:C:T 8916_406_136_V->M 0.000798722 284 chr2:238296552:C:T 8916_367_123_V->M 0.000199681 284 chr2:238296579:C:T 8916_340_114_A->T 0.000798722 284 chr2:238296587:C:T 8916_332_111_G->E 0.000199681 284 chr2:238296624:C:T 8916_295_99_V->I 0.000199681 284 chr2:238296641:T:C 8916_278_93_Y->C 0.000199681 284 chr2:238296675:C:T 8916_244_82_D->N 0.000998403 284 chr2:238296698:C:A 8916_221_74_R->L 0.000199681 284 chr2:238296761:G:A 8916_158_53_A->V 0.000199681 284 chr2:238296762:C:T 8916_157_53_A->T 0.000199681 284 chr2:238296777:C:T 8916_142_48_G->R 0.000199681 284 chr2:238296779:G:T 8916_140_47_T->N 0.000199681 284 chr2:238296807:T:C 8916_112_38_I->V 0.00279553 284 chr2:238296822:C:T 8916_97_33_D->N 0.000199681 284 chr2:238305427:C:T 8916_34_12_V->I 0.00339457 284 na12878 Variants: 284 chr2:238243464:C:G 8916_8416_2806_A->P 284 chr2:238244963:A:G 8916_8162_2721_M->T 284 chr2:238243292:G:A 8916_8588_2863_T->I 284 chr2:238244781:T:C 8916_8344_2782_M->V 284 snyder Variants: 284 chr2:238243464:C:G 8916_8416_2806_A->P 284 chr2:238244963:A:G 8916_8162_2721_M->T 284 chr2:238243292:G:A 8916_8588_2863_T->I 285 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163359_ENST00000472056 gene_Name: CO6A3_HUMAN 285 list of pdbs: 285 2KNT pdb_description: 15-May-97 X-ray 1.200 The 1.2 angstrom structure of kunitz type domain c5 285 1KUN pdb_description: 12-Nov-97 NMR 20 Solution structure of the human alpha3-chain type vi collagen c-terminal kunitz domain, nmr, 20 structures 285 1KTH pdb_description: 06-Feb-02 X-ray 0.950 The anisotropic refinement of kunitz type domain c5 at 0.95 angstrom 285 1KNT pdb_description: 01-Nov-94 X-ray 1.600 The 1.6 angstroms structure of the kunitz-type domain from the alpha3 chain of the human type vi collagen 285 Zimmer Variants: 285 chr2:238243464:C:G 7713_7213_2405_A->P;GNEG=Yes;GENE=COL6A3;CDSS=3;DBRECUR=COL6A3 285 chr2:238244963:A:G 7713_6959_2320_M->T;GNEG=Yes;GENE=COL6A3;CDSS=3;DBRECUR=COL6A3 285 chr2:238243292:G:A 7713_7385_2462_T->I;GNEG=Yes;GENE=COL6A3;CDSS=2;DBRECUR=COL6A3 285 HGMD Variants: 285 chr2:238255172:C:A 7713_5245_1749_G->* 285 chr2:238256455:G:A 7713_5203_1735_R->* 285 chr2:238269793:G:A 7713_4360_1454_R->* 285 chr2:238271967:G:A 7713_4171_1391_R->* 285 chr2:238290062:G:A 7713_172_58_R->* 285 chr2:238305385:G:A 7713_76_26_Q->* 285 chr2:238305408:G:T 7713_53_18_S->* 285 chr2:238243292:G:A 7713_7385_2462_T->I 285 chr2:238243464:C:G 7713_7213_2405_A->P 285 chr2:238244921:G:A 7713_7001_2334_A->V 285 chr2:238244963:A:G 7713_6959_2320_M->T 285 chr2:238249323:C:T 7713_6415_2139_E->K 285 chr2:238249350:T:G 7713_6388_2130_K->Q 285 chr2:238249550:G:A 7713_6188_2063_A->V 285 chr2:238249686:C:A 7713_6052_2018_D->Y 285 chr2:238253214:T:C 7713_5626_1876_K->E 285 chr2:238257027:C:T 7713_5110_1704_G->R 285 chr2:238259777:C:T 7713_4991_1664_R->K 285 chr2:238262021:G:A 7713_4832_1611_P->L 285 chr2:238267721:C:A 7713_4544_1515_G->V 285 chr2:238268021:C:A 7713_4472_1491_G->V 285 chr2:238268030:C:A 7713_4463_1488_G->V 285 chr2:238268774:C:T 7713_4418_1473_G->D 285 chr2:238268775:C:A 7713_4417_1473_G->C 285 chr2:238268783:C:T 7713_4409_1470_G->D 285 chr2:238268784:C:G 7713_4408_1470_G->R 285 chr2:238268789:G:A 7713_4403_1468_P->L 285 chr2:238268792:C:T 7713_4400_1467_G->D 285 chr2:238268793:C:A 7713_4399_1467_G->C 285 chr2:238269775:C:T 7713_4378_1460_E->K 285 chr2:238269780:C:T 7713_4373_1458_G->D 285 chr2:238269799:C:A 7713_4354_1452_G->C 285 chr2:238269808:C:T 7713_4345_1449_G->R 285 chr2:238269816:C:A 7713_4337_1446_G->V 285 chr2:238269817:C:A 7713_4336_1446_G->C 285 chr2:238270398:C:T 7713_4319_1440_G->D 285 chr2:238270399:C:A 7713_4318_1440_G->C 285 chr2:238270408:C:T 7713_4309_1437_G->R 285 chr2:238272006:C:T 7713_4132_1378_V->M 285 chr2:238273002:G:A 7713_4087_1363_R->C 285 chr2:238274654:C:T 7713_3704_1235_G->E 285 chr2:238274655:C:T 7713_3703_1235_G->R 285 chr2:238275569:T:C 7713_3440_1147_K->R 285 chr2:238275653:A:C 7713_3356_1119_L->R 285 chr2:238275794:C:T 7713_3215_1072_G->E 285 chr2:238275795:C:A 7713_3214_1072_G->W 285 chr2:238275810:C:T 7713_3199_1067_D->N 285 chr2:238275902:A:C 7713_3107_1036_L->R 285 chr2:238275918:C:T 7713_3091_1031_A->T 285 chr2:238277293:T:C 7713_2992_998_I->V 285 chr2:238277670:T:A 7713_2615_872_Q->L 285 chr2:238277707:T:C 7713_2578_860_N->D 285 chr2:238280476:C:T 7713_2363_788_R->Q 285 chr2:238280504:C:T 7713_2335_779_E->K 285 chr2:238280543:C:T 7713_2296_766_A->T 285 chr2:238283289:G:A 7713_1624_542_R->W 285 chr2:238283543:C:T 7713_1370_457_R->Q 285 chr2:238285445:T:C 7713_1219_407_K->E 285 chr2:238285621:C:T 7713_1043_348_R->H 285 chr2:238289767:T:C 7713_467_156_D->G 285 oneKG Variants: 285 chr2:238233427:A:G 7713_7703_2568_M->T 0.000399361 285 chr2:238233443:C:T 7713_7687_2563_G->R 0.000199681 285 chr2:238233452:C:T 7713_7678_2560_A->T 0.000199681 285 chr2:238234209:C:T 7713_7666_2556_A->T 0.000199681 285 chr2:238234302:G:A 7713_7573_2525_P->S 0.000199681 285 chr2:238234352:G:A 7713_7523_2508_P->L 0.000199681 285 chr2:238242129:T:C 7713_7471_2491_M->V 0.000199681 285 chr2:238242176:G:C 7713_7424_2475_P->R 0.000399361 285 chr2:238243289:T:C 7713_7388_2463_Y->C 0.000998403 285 chr2:238243292:G:A 7713_7385_2462_T->I 0.346246 285 chr2:238243350:C:T 7713_7327_2443_A->T 0.00179712 285 chr2:238243370:C:T 7713_7307_2436_R->H 0.00219649 285 chr2:238243371:G:T 7713_7306_2436_R->S 0.000199681 285 chr2:238243382:G:A 7713_7295_2432_T->M 0.000199681 285 chr2:238243391:T:C 7713_7286_2429_Q->R 0.000199681 285 chr2:238243455:G:A 7713_7222_2408_P->S 0.000199681 285 chr2:238243464:C:G 7713_7213_2405_A->P 0.207668 285 chr2:238243467:T:C 7713_7210_2404_R->G 0.000798722 285 chr2:238243481:T:C 7713_7196_2399_K->R 0.00379393 285 chr2:238243485:C:T 7713_7192_2398_A->T 0.000199681 285 chr2:238243502:T:C 7713_7175_2392_E->G 0.000199681 285 chr2:238243520:C:T 7713_7157_2386_R->H 0.000798722 285 chr2:238244781:T:C 7713_7141_2381_M->V 0.0473243 285 chr2:238244819:G:A 7713_7103_2368_A->V 0.000599042 285 chr2:238244889:C:T 7713_7033_2345_V->I 0.000199681 285 chr2:238244921:G:A 7713_7001_2334_A->V 0.0161741 285 chr2:238244924:G:A 7713_6998_2333_T->M 0.000399361 285 chr2:238244939:G:A 7713_6983_2328_A->V 0.000399361 285 chr2:238244945:G:A 7713_6977_2326_P->L 0.000199681 285 chr2:238244963:A:G 7713_6959_2320_M->T 0.363419 285 chr2:238245008:G:A 7713_6914_2305_P->L 0.00678914 285 chr2:238245018:C:T 7713_6904_2302_A->T 0.000199681 285 chr2:238245048:T:C 7713_6874_2292_I->V 0.000199681 285 chr2:238245074:A:G 7713_6848_2283_V->A 0.000199681 285 chr2:238245107:G:A 7713_6815_2272_T->M 0.000798722 285 chr2:238245116:G:A 7713_6806_2269_P->L 0.000199681 285 chr2:238245159:C:T 7713_6763_2255_V->I 0.000399361 285 chr2:238245171:C:T 7713_6751_2251_V->I 0.00319489 285 chr2:238247684:G:C 7713_6720_2240_N->K 0.000199681 285 chr2:238247734:C:G 7713_6670_2224_D->H 0.0325479 285 chr2:238249101:C:T 7713_6637_2213_V->I 0.00399361 285 chr2:238249145:T:C 7713_6593_2198_N->S 0.000199681 285 chr2:238249182:C:T 7713_6556_2186_V->I 0.000199681 285 chr2:238249316:G:A 7713_6422_2141_P->L 0.000399361 285 chr2:238249370:G:T 7713_6368_2123_A->D 0.000199681 285 chr2:238249391:A:G 7713_6347_2116_I->T 0.000199681 285 chr2:238249550:G:A 7713_6188_2063_A->V 0.000199681 285 chr2:238249595:G:A 7713_6143_2048_P->L 0.000199681 285 chr2:238249606:C:T 7713_6132_2044_M->I 0.000798722 285 chr2:238249631:G:A 7713_6107_2036_A->V 0.00439297 285 chr2:238249710:C:T 7713_6028_2010_D->N 0.00199681 285 chr2:238249727:G:A 7713_6011_2004_A->V 0.000199681 285 chr2:238250788:A:G 7713_5864_1955_V->A 0.000199681 285 chr2:238250803:A:T 7713_5849_1950_I->N 0.000199681 285 chr2:238253015:C:T 7713_5825_1942_R->Q 0.000199681 285 chr2:238253016:G:A 7713_5824_1942_R->W 0.00199681 285 chr2:238253072:A:G 7713_5768_1923_V->A 0.000199681 285 chr2:238253123:A:C 7713_5717_1906_V->G 0.028754 285 chr2:238253148:C:T 7713_5692_1898_G->R 0.000199681 285 chr2:238253159:C:T 7713_5681_1894_R->H 0.000199681 285 chr2:238253220:T:C 7713_5620_1874_T->A 0.000399361 285 chr2:238253259:C:T 7713_5581_1861_V->I 0.000199681 285 chr2:238253261:G:A 7713_5579_1860_S->L 0.00179712 285 chr2:238253280:C:G 7713_5560_1854_A->P 0.000199681 285 chr2:238253301:C:T 7713_5539_1847_V->M 0.000199681 285 chr2:238253333:G:A 7713_5507_1836_A->V 0.000199681 285 chr2:238253403:G:A 7713_5437_1813_R->W 0.000599042 285 chr2:238253437:G:C 7713_5403_1801_D->E 0.000199681 285 chr2:238255187:T:G 7713_5230_1744_I->L 0.000599042 285 chr2:238256450:C:A 7713_5208_1736_R->S 0.000199681 285 chr2:238256472:G:A 7713_5186_1729_P->L 0.000399361 285 chr2:238257284:A:G 7713_5081_1694_V->A 0.000199681 285 chr2:238258792:T:C 7713_5056_1686_T->A 0.000199681 285 chr2:238258800:C:T 7713_5048_1683_R->H 0.000199681 285 chr2:238258801:G:A 7713_5047_1683_R->C 0.000199681 285 chr2:238259829:C:T 7713_4939_1647_G->R 0.000199681 285 chr2:238259835:C:T 7713_4933_1645_G->R 0.000199681 285 chr2:238261167:G:A 7713_4930_1644_R->W 0.000599042 285 chr2:238262021:G:A 7713_4832_1611_P->L 0.0740815 285 chr2:238266491:G:C 7713_4685_1562_P->R 0.000399361 285 chr2:238267208:C:T 7713_4606_1536_G->R 0.000199681 285 chr2:238268795:C:T 7713_4397_1466_R->H 0.000199681 285 chr2:238271906:G:A 7713_4232_1411_A->V 0.000998403 285 chr2:238271984:A:G 7713_4154_1385_M->T 0.000599042 285 chr2:238271991:G:A 7713_4147_1383_R->W 0.00199681 285 chr2:238272002:A:C 7713_4136_1379_V->G 0.000199681 285 chr2:238272035:C:T 7713_4103_1368_R->H 0.000798722 285 chr2:238273014:A:C 7713_4075_1359_S->A 0.000199681 285 chr2:238273031:G:A 7713_4058_1353_A->V 0.000199681 285 chr2:238274346:C:T 7713_4012_1338_V->M 0.000399361 285 chr2:238274534:G:A 7713_3824_1275_S->L 0.000199681 285 chr2:238274569:G:T 7713_3789_1263_S->R 0.000599042 285 chr2:238274570:C:T 7713_3788_1263_S->N 0.00119808 285 chr2:238274624:A:G 7713_3734_1245_F->S 0.000199681 285 chr2:238274632:C:G 7713_3726_1242_Q->H 0.000199681 285 chr2:238274637:C:T 7713_3721_1241_D->N 0.000199681 285 chr2:238275360:G:A 7713_3649_1217_L->F 0.00139776 285 chr2:238275368:T:C 7713_3641_1214_H->R 0.000199681 285 chr2:238275513:C:T 7713_3496_1166_V->M 0.000199681 285 chr2:238275558:C:T 7713_3451_1151_D->N 0.000199681 285 chr2:238275569:T:C 7713_3440_1147_K->R 0.00199681 285 chr2:238275578:G:A 7713_3431_1144_T->M 0.000199681 285 chr2:238275600:G:A 7713_3409_1137_P->S 0.000199681 285 chr2:238275651:G:A 7713_3358_1120_R->W 0.000199681 285 chr2:238275674:G:A 7713_3335_1112_T->I 0.000199681 285 chr2:238275771:G:A 7713_3238_1080_P->S 0.00738818 285 chr2:238275918:C:T 7713_3091_1031_A->T 0.000798722 285 chr2:238277211:C:T 7713_3074_1025_R->Q 0.0169728 285 chr2:238277218:G:A 7713_3067_1023_P->S 0.000599042 285 chr2:238277226:G:T 7713_3059_1020_T->N 0.000199681 285 chr2:238277233:C:A 7713_3052_1018_V->L 0.000199681 285 chr2:238277257:C:T 7713_3028_1010_A->T 0.000199681 285 chr2:238277271:G:A 7713_3014_1005_S->L 0.000798722 285 chr2:238277379:C:T 7713_2906_969_R->Q 0.00379393 285 chr2:238277416:G:T 7713_2869_957_R->S 0.000199681 285 chr2:238277464:G:C 7713_2821_941_L->V 0.000199681 285 chr2:238277502:C:T 7713_2783_928_R->H 0.000199681 285 chr2:238277658:T:A 7713_2627_876_D->V 0.000199681 285 chr2:238277797:T:C 7713_2488_830_I->V 0.000199681 285 chr2:238280443:G:A 7713_2396_799_T->M 0.00179712 285 chr2:238280476:C:T 7713_2363_788_R->Q 0.0181709 285 chr2:238280477:G:A 7713_2362_788_R->W 0.00479233 285 chr2:238280491:G:A 7713_2348_783_S->L 0.00199681 285 chr2:238280504:C:T 7713_2335_779_E->K 0.00179712 285 chr2:238280543:C:T 7713_2296_766_A->T 0.000998403 285 chr2:238280570:C:T 7713_2269_757_V->M 0.000998403 285 chr2:238280654:C:T 7713_2185_729_V->I 0.000998403 285 chr2:238280758:C:T 7713_2081_694_R->Q 0.000798722 285 chr2:238280764:A:G 7713_2075_692_V->A 0.000199681 285 chr2:238280767:G:A 7713_2072_691_A->V 0.000399361 285 chr2:238280781:A:C 7713_2058_686_D->E 0.00439297 285 chr2:238280816:C:T 7713_2023_675_V->M 0.000199681 285 chr2:238280840:T:C 7713_1999_667_I->V 0.000199681 285 chr2:238280870:C:T 7713_1969_657_V->M 0.000199681 285 chr2:238280905:C:T 7713_1934_645_R->H 0.000199681 285 chr2:238280919:C:G 7713_1920_640_E->D 0.000199681 285 chr2:238280945:C:T 7713_1894_632_D->N 0.000199681 285 chr2:238283083:C:A 7713_1830_610_Q->H 0.000399361 285 chr2:238283249:G:A 7713_1664_555_P->L 0.000199681 285 chr2:238283288:C:T 7713_1625_542_R->Q 0.00179712 285 chr2:238283289:G:A 7713_1624_542_R->W 0.000399361 285 chr2:238283305:C:A 7713_1608_536_R->S 0.000199681 285 chr2:238283315:G:A 7713_1598_533_T->M 0.000399361 285 chr2:238283322:C:T 7713_1591_531_V->I 0.000199681 285 chr2:238283363:G:A 7713_1550_517_A->V 0.000199681 285 chr2:238283403:C:T 7713_1510_504_A->T 0.000199681 285 chr2:238283448:G:A 7713_1465_489_R->C 0.000798722 285 chr2:238283460:C:T 7713_1453_485_V->I 0.000199681 285 chr2:238283472:T:G 7713_1441_481_K->Q 0.0748802 285 chr2:238283511:G:A 7713_1402_468_R->W 0.000199681 285 chr2:238283529:C:T 7713_1384_462_V->M 0.00119808 285 chr2:238283535:C:T 7713_1378_460_V->M 0.000199681 285 chr2:238283543:C:T 7713_1370_457_R->Q 0.00479233 285 chr2:238283570:A:T 7713_1343_448_V->E 0.000199681 285 chr2:238283616:C:T 7713_1297_433_V->I 0.000199681 285 chr2:238283646:C:T 7713_1267_423_V->M 0.00159744 285 chr2:238285418:G:A 7713_1246_416_P->S 0.000399361 285 chr2:238285445:T:C 7713_1219_407_K->E 0.000199681 285 chr2:238285567:A:T 7713_1097_366_F->Y 0.000199681 285 chr2:238285583:C:T 7713_1081_361_V->I 0.000399361 285 chr2:238285606:G:C 7713_1058_353_A->G 0.000399361 285 chr2:238285615:T:C 7713_1049_350_D->G 0.000199681 285 chr2:238285691:C:G 7713_973_325_A->P 0.000199681 285 chr2:238285729:G:A 7713_935_312_A->V 0.000199681 285 chr2:238285756:G:A 7713_908_303_T->M 0.000199681 285 chr2:238285796:G:C 7713_868_290_P->A 0.000199681 285 chr2:238285820:G:A 7713_844_282_R->C 0.000199681 285 chr2:238285910:G:A 7713_754_252_L->F 0.000199681 285 chr2:238285958:C:G 7713_706_236_D->H 0.000199681 285 chr2:238289569:C:T 7713_665_222_G->E 0.000199681 285 chr2:238289629:C:T 7713_605_202_R->Q 0.000599042 285 chr2:238289669:C:A 7713_565_189_A->S 0.01877 285 chr2:238289767:T:C 7713_467_156_D->G 0.000399361 285 chr2:238289828:A:G 7713_406_136_Y->H 0.000199681 285 chr2:238289842:G:A 7713_392_131_T->M 0.00878594 285 chr2:238289893:G:A 7713_341_114_S->L 0.000998403 285 chr2:238289956:T:C 7713_278_93_N->S 0.000199681 285 chr2:238289977:A:G 7713_257_86_V->A 0.00199681 285 chr2:238289980:G:C 7713_254_85_T->S 0.00359425 285 chr2:238289984:C:G 7713_250_84_D->H 0.00359425 285 chr2:238290082:A:T 7713_152_51_L->Q 0.000199681 285 chr2:238305427:C:T 7713_34_12_V->I 0.00339457 285 na12878 Variants: 285 chr2:238243464:C:G 7713_7213_2405_A->P 285 chr2:238244963:A:G 7713_6959_2320_M->T 285 chr2:238243292:G:A 7713_7385_2462_T->I 285 chr2:238244781:T:C 7713_7141_2381_M->V 285 snyder Variants: 285 chr2:238243464:C:G 7713_7213_2405_A->P 285 chr2:238244963:A:G 7713_6959_2320_M->T 285 chr2:238243292:G:A 7713_7385_2462_T->I 286 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163359_ENST00000409809 gene_Name: CO6A3_HUMAN 286 list of pdbs: 286 2KNT pdb_description: 15-May-97 X-ray 1.200 The 1.2 angstrom structure of kunitz type domain c5 286 1KUN pdb_description: 12-Nov-97 NMR 20 Solution structure of the human alpha3-chain type vi collagen c-terminal kunitz domain, nmr, 20 structures 286 1KTH pdb_description: 06-Feb-02 X-ray 0.950 The anisotropic refinement of kunitz type domain c5 at 0.95 angstrom 286 1KNT pdb_description: 01-Nov-94 X-ray 1.600 The 1.6 angstroms structure of the kunitz-type domain from the alpha3 chain of the human type vi collagen 286 Zimmer Variants: 286 chr2:238243464:C:G 8916_8416_2806_A->P 286 chr2:238244963:A:G 8916_8162_2721_M->T 286 chr2:238243292:G:A 8916_8588_2863_T->I 286 HGMD Variants: 286 chr2:238255172:C:A 8916_6448_2150_G->* 286 chr2:238256455:G:A 8916_6406_2136_R->* 286 chr2:238269793:G:A 8916_5563_1855_R->* 286 chr2:238271967:G:A 8916_5374_1792_R->* 286 chr2:238290062:G:A 8916_775_259_R->* 286 chr2:238305385:G:A 8916_76_26_Q->* 286 chr2:238305408:G:T 8916_53_18_S->* 286 chr2:238243292:G:A 8916_8588_2863_T->I 286 chr2:238243464:C:G 8916_8416_2806_A->P 286 chr2:238244921:G:A 8916_8204_2735_A->V 286 chr2:238244963:A:G 8916_8162_2721_M->T 286 chr2:238249323:C:T 8916_7618_2540_E->K 286 chr2:238249350:T:G 8916_7591_2531_K->Q 286 chr2:238249550:G:A 8916_7391_2464_A->V 286 chr2:238249686:C:A 8916_7255_2419_D->Y 286 chr2:238253214:T:C 8916_6829_2277_K->E 286 chr2:238257027:C:T 8916_6313_2105_G->R 286 chr2:238259777:C:T 8916_6194_2065_R->K 286 chr2:238262021:G:A 8916_6035_2012_P->L 286 chr2:238267721:C:A 8916_5747_1916_G->V 286 chr2:238268021:C:A 8916_5675_1892_G->V 286 chr2:238268030:C:A 8916_5666_1889_G->V 286 chr2:238268774:C:T 8916_5621_1874_G->D 286 chr2:238268775:C:A 8916_5620_1874_G->C 286 chr2:238268783:C:T 8916_5612_1871_G->D 286 chr2:238268784:C:G 8916_5611_1871_G->R 286 chr2:238268789:G:A 8916_5606_1869_P->L 286 chr2:238268792:C:T 8916_5603_1868_G->D 286 chr2:238268793:C:A 8916_5602_1868_G->C 286 chr2:238269775:C:T 8916_5581_1861_E->K 286 chr2:238269780:C:T 8916_5576_1859_G->D 286 chr2:238269799:C:A 8916_5557_1853_G->C 286 chr2:238269808:C:T 8916_5548_1850_G->R 286 chr2:238269816:C:A 8916_5540_1847_G->V 286 chr2:238269817:C:A 8916_5539_1847_G->C 286 chr2:238270398:C:T 8916_5522_1841_G->D 286 chr2:238270399:C:A 8916_5521_1841_G->C 286 chr2:238270408:C:T 8916_5512_1838_G->R 286 chr2:238272006:C:T 8916_5335_1779_V->M 286 chr2:238273002:G:A 8916_5290_1764_R->C 286 chr2:238274654:C:T 8916_4907_1636_G->E 286 chr2:238274655:C:T 8916_4906_1636_G->R 286 chr2:238275569:T:C 8916_4643_1548_K->R 286 chr2:238275653:A:C 8916_4559_1520_L->R 286 chr2:238275794:C:T 8916_4418_1473_G->E 286 chr2:238275795:C:A 8916_4417_1473_G->W 286 chr2:238275810:C:T 8916_4402_1468_D->N 286 chr2:238275902:A:C 8916_4310_1437_L->R 286 chr2:238275918:C:T 8916_4294_1432_A->T 286 chr2:238277293:T:C 8916_4195_1399_I->V 286 chr2:238277670:T:A 8916_3818_1273_Q->L 286 chr2:238277707:T:C 8916_3781_1261_N->D 286 chr2:238280476:C:T 8916_3566_1189_R->Q 286 chr2:238280504:C:T 8916_3538_1180_E->K 286 chr2:238280543:C:T 8916_3499_1167_A->T 286 chr2:238283289:G:A 8916_2827_943_R->W 286 chr2:238283543:C:T 8916_2573_858_R->Q 286 chr2:238285445:T:C 8916_2422_808_K->E 286 chr2:238285621:C:T 8916_2246_749_R->H 286 chr2:238287746:C:T 8916_1412_471_R->H 286 chr2:238289767:T:C 8916_1070_357_D->G 286 chr2:238296321:G:A 8916_598_200_R->C 286 oneKG Variants: 286 chr2:238296445:G:C 8916_474_158_Y->* 0.000199681 286 chr2:238296699:G:A 8916_220_74_R->* 0.000199681 286 chr2:238233427:A:G 8916_8906_2969_M->T 0.000399361 286 chr2:238233443:C:T 8916_8890_2964_G->R 0.000199681 286 chr2:238233452:C:T 8916_8881_2961_A->T 0.000199681 286 chr2:238234209:C:T 8916_8869_2957_A->T 0.000199681 286 chr2:238234302:G:A 8916_8776_2926_P->S 0.000199681 286 chr2:238234352:G:A 8916_8726_2909_P->L 0.000199681 286 chr2:238242129:T:C 8916_8674_2892_M->V 0.000199681 286 chr2:238242176:G:C 8916_8627_2876_P->R 0.000399361 286 chr2:238243289:T:C 8916_8591_2864_Y->C 0.000998403 286 chr2:238243292:G:A 8916_8588_2863_T->I 0.346246 286 chr2:238243350:C:T 8916_8530_2844_A->T 0.00179712 286 chr2:238243370:C:T 8916_8510_2837_R->H 0.00219649 286 chr2:238243371:G:T 8916_8509_2837_R->S 0.000199681 286 chr2:238243382:G:A 8916_8498_2833_T->M 0.000199681 286 chr2:238243391:T:C 8916_8489_2830_Q->R 0.000199681 286 chr2:238243455:G:A 8916_8425_2809_P->S 0.000199681 286 chr2:238243464:C:G 8916_8416_2806_A->P 0.207668 286 chr2:238243467:T:C 8916_8413_2805_R->G 0.000798722 286 chr2:238243481:T:C 8916_8399_2800_K->R 0.00379393 286 chr2:238243485:C:T 8916_8395_2799_A->T 0.000199681 286 chr2:238243502:T:C 8916_8378_2793_E->G 0.000199681 286 chr2:238243520:C:T 8916_8360_2787_R->H 0.000798722 286 chr2:238244781:T:C 8916_8344_2782_M->V 0.0473243 286 chr2:238244819:G:A 8916_8306_2769_A->V 0.000599042 286 chr2:238244889:C:T 8916_8236_2746_V->I 0.000199681 286 chr2:238244921:G:A 8916_8204_2735_A->V 0.0161741 286 chr2:238244924:G:A 8916_8201_2734_T->M 0.000399361 286 chr2:238244939:G:A 8916_8186_2729_A->V 0.000399361 286 chr2:238244945:G:A 8916_8180_2727_P->L 0.000199681 286 chr2:238244963:A:G 8916_8162_2721_M->T 0.363419 286 chr2:238245008:G:A 8916_8117_2706_P->L 0.00678914 286 chr2:238245018:C:T 8916_8107_2703_A->T 0.000199681 286 chr2:238245048:T:C 8916_8077_2693_I->V 0.000199681 286 chr2:238245074:A:G 8916_8051_2684_V->A 0.000199681 286 chr2:238245107:G:A 8916_8018_2673_T->M 0.000798722 286 chr2:238245116:G:A 8916_8009_2670_P->L 0.000199681 286 chr2:238245159:C:T 8916_7966_2656_V->I 0.000399361 286 chr2:238245171:C:T 8916_7954_2652_V->I 0.00319489 286 chr2:238247684:G:C 8916_7923_2641_N->K 0.000199681 286 chr2:238247734:C:G 8916_7873_2625_D->H 0.0325479 286 chr2:238249101:C:T 8916_7840_2614_V->I 0.00399361 286 chr2:238249145:T:C 8916_7796_2599_N->S 0.000199681 286 chr2:238249182:C:T 8916_7759_2587_V->I 0.000199681 286 chr2:238249316:G:A 8916_7625_2542_P->L 0.000399361 286 chr2:238249370:G:T 8916_7571_2524_A->D 0.000199681 286 chr2:238249391:A:G 8916_7550_2517_I->T 0.000199681 286 chr2:238249550:G:A 8916_7391_2464_A->V 0.000199681 286 chr2:238249595:G:A 8916_7346_2449_P->L 0.000199681 286 chr2:238249606:C:T 8916_7335_2445_M->I 0.000798722 286 chr2:238249631:G:A 8916_7310_2437_A->V 0.00439297 286 chr2:238249710:C:T 8916_7231_2411_D->N 0.00199681 286 chr2:238249727:G:A 8916_7214_2405_A->V 0.000199681 286 chr2:238250788:A:G 8916_7067_2356_V->A 0.000199681 286 chr2:238250803:A:T 8916_7052_2351_I->N 0.000199681 286 chr2:238253015:C:T 8916_7028_2343_R->Q 0.000199681 286 chr2:238253016:G:A 8916_7027_2343_R->W 0.00199681 286 chr2:238253072:A:G 8916_6971_2324_V->A 0.000199681 286 chr2:238253123:A:C 8916_6920_2307_V->G 0.028754 286 chr2:238253148:C:T 8916_6895_2299_G->R 0.000199681 286 chr2:238253159:C:T 8916_6884_2295_R->H 0.000199681 286 chr2:238253220:T:C 8916_6823_2275_T->A 0.000399361 286 chr2:238253259:C:T 8916_6784_2262_V->I 0.000199681 286 chr2:238253261:G:A 8916_6782_2261_S->L 0.00179712 286 chr2:238253280:C:G 8916_6763_2255_A->P 0.000199681 286 chr2:238253301:C:T 8916_6742_2248_V->M 0.000199681 286 chr2:238253333:G:A 8916_6710_2237_A->V 0.000199681 286 chr2:238253403:G:A 8916_6640_2214_R->W 0.000599042 286 chr2:238253437:G:C 8916_6606_2202_D->E 0.000199681 286 chr2:238255187:T:G 8916_6433_2145_I->L 0.000599042 286 chr2:238256450:C:A 8916_6411_2137_R->S 0.000199681 286 chr2:238256472:G:A 8916_6389_2130_P->L 0.000399361 286 chr2:238257284:A:G 8916_6284_2095_V->A 0.000199681 286 chr2:238258792:T:C 8916_6259_2087_T->A 0.000199681 286 chr2:238258800:C:T 8916_6251_2084_R->H 0.000199681 286 chr2:238258801:G:A 8916_6250_2084_R->C 0.000199681 286 chr2:238259829:C:T 8916_6142_2048_G->R 0.000199681 286 chr2:238259835:C:T 8916_6136_2046_G->R 0.000199681 286 chr2:238261167:G:A 8916_6133_2045_R->W 0.000599042 286 chr2:238262021:G:A 8916_6035_2012_P->L 0.0740815 286 chr2:238266491:G:C 8916_5888_1963_P->R 0.000399361 286 chr2:238267208:C:T 8916_5809_1937_G->R 0.000199681 286 chr2:238268795:C:T 8916_5600_1867_R->H 0.000199681 286 chr2:238271906:G:A 8916_5435_1812_A->V 0.000998403 286 chr2:238271984:A:G 8916_5357_1786_M->T 0.000599042 286 chr2:238271991:G:A 8916_5350_1784_R->W 0.00199681 286 chr2:238272002:A:C 8916_5339_1780_V->G 0.000199681 286 chr2:238272035:C:T 8916_5306_1769_R->H 0.000798722 286 chr2:238273014:A:C 8916_5278_1760_S->A 0.000199681 286 chr2:238273031:G:A 8916_5261_1754_A->V 0.000199681 286 chr2:238274346:C:T 8916_5215_1739_V->M 0.000399361 286 chr2:238274534:G:A 8916_5027_1676_S->L 0.000199681 286 chr2:238274569:G:T 8916_4992_1664_S->R 0.000599042 286 chr2:238274570:C:T 8916_4991_1664_S->N 0.00119808 286 chr2:238274624:A:G 8916_4937_1646_F->S 0.000199681 286 chr2:238274632:C:G 8916_4929_1643_Q->H 0.000199681 286 chr2:238274637:C:T 8916_4924_1642_D->N 0.000199681 286 chr2:238275360:G:A 8916_4852_1618_L->F 0.00139776 286 chr2:238275368:T:C 8916_4844_1615_H->R 0.000199681 286 chr2:238275513:C:T 8916_4699_1567_V->M 0.000199681 286 chr2:238275558:C:T 8916_4654_1552_D->N 0.000199681 286 chr2:238275569:T:C 8916_4643_1548_K->R 0.00199681 286 chr2:238275578:G:A 8916_4634_1545_T->M 0.000199681 286 chr2:238275600:G:A 8916_4612_1538_P->S 0.000199681 286 chr2:238275651:G:A 8916_4561_1521_R->W 0.000199681 286 chr2:238275674:G:A 8916_4538_1513_T->I 0.000199681 286 chr2:238275771:G:A 8916_4441_1481_P->S 0.00738818 286 chr2:238275918:C:T 8916_4294_1432_A->T 0.000798722 286 chr2:238277211:C:T 8916_4277_1426_R->Q 0.0169728 286 chr2:238277218:G:A 8916_4270_1424_P->S 0.000599042 286 chr2:238277226:G:T 8916_4262_1421_T->N 0.000199681 286 chr2:238277233:C:A 8916_4255_1419_V->L 0.000199681 286 chr2:238277257:C:T 8916_4231_1411_A->T 0.000199681 286 chr2:238277271:G:A 8916_4217_1406_S->L 0.000798722 286 chr2:238277379:C:T 8916_4109_1370_R->Q 0.00379393 286 chr2:238277416:G:T 8916_4072_1358_R->S 0.000199681 286 chr2:238277464:G:C 8916_4024_1342_L->V 0.000199681 286 chr2:238277502:C:T 8916_3986_1329_R->H 0.000199681 286 chr2:238277658:T:A 8916_3830_1277_D->V 0.000199681 286 chr2:238277797:T:C 8916_3691_1231_I->V 0.000199681 286 chr2:238280443:G:A 8916_3599_1200_T->M 0.00179712 286 chr2:238280476:C:T 8916_3566_1189_R->Q 0.0181709 286 chr2:238280477:G:A 8916_3565_1189_R->W 0.00479233 286 chr2:238280491:G:A 8916_3551_1184_S->L 0.00199681 286 chr2:238280504:C:T 8916_3538_1180_E->K 0.00179712 286 chr2:238280543:C:T 8916_3499_1167_A->T 0.000998403 286 chr2:238280570:C:T 8916_3472_1158_V->M 0.000998403 286 chr2:238280654:C:T 8916_3388_1130_V->I 0.000998403 286 chr2:238280758:C:T 8916_3284_1095_R->Q 0.000798722 286 chr2:238280764:A:G 8916_3278_1093_V->A 0.000199681 286 chr2:238280767:G:A 8916_3275_1092_A->V 0.000399361 286 chr2:238280781:A:C 8916_3261_1087_D->E 0.00439297 286 chr2:238280816:C:T 8916_3226_1076_V->M 0.000199681 286 chr2:238280840:T:C 8916_3202_1068_I->V 0.000199681 286 chr2:238280870:C:T 8916_3172_1058_V->M 0.000199681 286 chr2:238280905:C:T 8916_3137_1046_R->H 0.000199681 286 chr2:238280919:C:G 8916_3123_1041_E->D 0.000199681 286 chr2:238280945:C:T 8916_3097_1033_D->N 0.000199681 286 chr2:238283083:C:A 8916_3033_1011_Q->H 0.000399361 286 chr2:238283249:G:A 8916_2867_956_P->L 0.000199681 286 chr2:238283288:C:T 8916_2828_943_R->Q 0.00179712 286 chr2:238283289:G:A 8916_2827_943_R->W 0.000399361 286 chr2:238283305:C:A 8916_2811_937_R->S 0.000199681 286 chr2:238283315:G:A 8916_2801_934_T->M 0.000399361 286 chr2:238283322:C:T 8916_2794_932_V->I 0.000199681 286 chr2:238283363:G:A 8916_2753_918_A->V 0.000199681 286 chr2:238283403:C:T 8916_2713_905_A->T 0.000199681 286 chr2:238283448:G:A 8916_2668_890_R->C 0.000798722 286 chr2:238283460:C:T 8916_2656_886_V->I 0.000199681 286 chr2:238283472:T:G 8916_2644_882_K->Q 0.0748802 286 chr2:238283511:G:A 8916_2605_869_R->W 0.000199681 286 chr2:238283529:C:T 8916_2587_863_V->M 0.00119808 286 chr2:238283535:C:T 8916_2581_861_V->M 0.000199681 286 chr2:238283543:C:T 8916_2573_858_R->Q 0.00479233 286 chr2:238283570:A:T 8916_2546_849_V->E 0.000199681 286 chr2:238283616:C:T 8916_2500_834_V->I 0.000199681 286 chr2:238283646:C:T 8916_2470_824_V->M 0.00159744 286 chr2:238285418:G:A 8916_2449_817_P->S 0.000399361 286 chr2:238285445:T:C 8916_2422_808_K->E 0.000199681 286 chr2:238285567:A:T 8916_2300_767_F->Y 0.000199681 286 chr2:238285583:C:T 8916_2284_762_V->I 0.000399361 286 chr2:238285606:G:C 8916_2261_754_A->G 0.000399361 286 chr2:238285615:T:C 8916_2252_751_D->G 0.000199681 286 chr2:238285691:C:G 8916_2176_726_A->P 0.000199681 286 chr2:238285729:G:A 8916_2138_713_A->V 0.000199681 286 chr2:238285756:G:A 8916_2111_704_T->M 0.000199681 286 chr2:238285796:G:C 8916_2071_691_P->A 0.000199681 286 chr2:238285820:G:A 8916_2047_683_R->C 0.000199681 286 chr2:238285910:G:A 8916_1957_653_L->F 0.000199681 286 chr2:238285958:C:G 8916_1909_637_D->H 0.000199681 286 chr2:238287281:G:A 8916_1877_626_P->L 0.000199681 286 chr2:238287288:C:A 8916_1870_624_A->S 0.0265575 286 chr2:238287357:C:T 8916_1801_601_A->T 0.0265575 286 chr2:238287434:G:A 8916_1724_575_A->V 0.000399361 286 chr2:238287456:A:G 8916_1702_568_F->L 0.000798722 286 chr2:238287471:C:T 8916_1687_563_A->T 0.000199681 286 chr2:238287474:G:A 8916_1684_562_R->C 0.000199681 286 chr2:238287507:C:T 8916_1651_551_D->N 0.000399361 286 chr2:238287545:G:A 8916_1613_538_P->L 0.000199681 286 chr2:238287557:C:T 8916_1601_534_R->H 0.000199681 286 chr2:238287558:G:A 8916_1600_534_R->C 0.000399361 286 chr2:238287629:C:T 8916_1529_510_G->D 0.000399361 286 chr2:238287639:C:T 8916_1519_507_G->R 0.000199681 286 chr2:238287741:C:A 8916_1417_473_G->C 0.000199681 286 chr2:238287746:C:T 8916_1412_471_R->H 0.00379393 286 chr2:238287791:A:G 8916_1367_456_V->A 0.000199681 286 chr2:238287800:C:T 8916_1358_453_R->H 0.023762 286 chr2:238287801:G:A 8916_1357_453_R->C 0.000199681 286 chr2:238289569:C:T 8916_1268_423_G->E 0.000199681 286 chr2:238289629:C:T 8916_1208_403_R->Q 0.000599042 286 chr2:238289669:C:A 8916_1168_390_A->S 0.01877 286 chr2:238289767:T:C 8916_1070_357_D->G 0.000399361 286 chr2:238289828:A:G 8916_1009_337_Y->H 0.000199681 286 chr2:238289842:G:A 8916_995_332_T->M 0.00878594 286 chr2:238289893:G:A 8916_944_315_S->L 0.000998403 286 chr2:238289956:T:C 8916_881_294_N->S 0.000199681 286 chr2:238289977:A:G 8916_860_287_V->A 0.00199681 286 chr2:238289980:G:C 8916_857_286_T->S 0.00359425 286 chr2:238289984:C:G 8916_853_285_D->H 0.00359425 286 chr2:238290082:A:T 8916_755_252_L->Q 0.000199681 286 chr2:238296269:G:A 8916_650_217_A->V 0.000199681 286 chr2:238296273:C:T 8916_646_216_V->M 0.00199681 286 chr2:238296305:A:G 8916_614_205_L->P 0.000199681 286 chr2:238296306:G:C 8916_613_205_L->V 0.00179712 286 chr2:238296309:C:T 8916_610_204_D->N 0.000399361 286 chr2:238296321:G:A 8916_598_200_R->C 0.000199681 286 chr2:238296323:A:G 8916_596_199_F->S 0.000798722 286 chr2:238296329:G:A 8916_590_197_P->L 0.000599042 286 chr2:238296330:G:A 8916_589_197_P->S 0.000199681 286 chr2:238296389:G:A 8916_530_177_A->V 0.000199681 286 chr2:238296456:C:T 8916_463_155_E->K 0.000199681 286 chr2:238296462:T:C 8916_457_153_S->G 0.000399361 286 chr2:238296471:C:T 8916_448_150_G->R 0.000199681 286 chr2:238296474:C:T 8916_445_149_A->T 0.000399361 286 chr2:238296513:C:T 8916_406_136_V->M 0.000798722 286 chr2:238296552:C:T 8916_367_123_V->M 0.000199681 286 chr2:238296579:C:T 8916_340_114_A->T 0.000798722 286 chr2:238296587:C:T 8916_332_111_G->E 0.000199681 286 chr2:238296624:C:T 8916_295_99_V->I 0.000199681 286 chr2:238296641:T:C 8916_278_93_Y->C 0.000199681 286 chr2:238296675:C:T 8916_244_82_D->N 0.000998403 286 chr2:238296698:C:A 8916_221_74_R->L 0.000199681 286 chr2:238296761:G:A 8916_158_53_A->V 0.000199681 286 chr2:238296762:C:T 8916_157_53_A->T 0.000199681 286 chr2:238296777:C:T 8916_142_48_G->R 0.000199681 286 chr2:238296779:G:T 8916_140_47_T->N 0.000199681 286 chr2:238296807:T:C 8916_112_38_I->V 0.00279553 286 chr2:238296822:C:T 8916_97_33_D->N 0.000199681 286 chr2:238305427:C:T 8916_34_12_V->I 0.00339457 286 na12878 Variants: 286 chr2:238243464:C:G 8916_8416_2806_A->P 286 chr2:238244963:A:G 8916_8162_2721_M->T 286 chr2:238243292:G:A 8916_8588_2863_T->I 286 chr2:238244781:T:C 8916_8344_2782_M->V 286 snyder Variants: 286 chr2:238243464:C:G 8916_8416_2806_A->P 286 chr2:238244963:A:G 8916_8162_2721_M->T 286 chr2:238243292:G:A 8916_8588_2863_T->I 287 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124831_ENST00000289175 gene_Name: LRRF1_HUMAN 287 list of pdbs: 287 4H22 pdb_description: 07-Nov-12 X-ray 2.890 Crystal structure of the dimeric coiled-coil domain of thE C nucleic acid sensor lrrfip1 287 Zimmer Variants: 287 chr2:238672703:C:G 2259_2179_727_H->D 287 HGMD Variants: 287 chr2:238672425:G:C 2259_1901_634_R->T 287 oneKG Variants: 287 chr2:238671386:G:T 2259_862_288_E->* 0.000199681 287 chr2:238601134:C:G 2259_36_12_I->M 0.000399361 287 chr2:238617202:G:A 2259_82_28_A->T 0.000199681 287 chr2:238617212:G:A 2259_92_31_R->Q 0.000399361 287 chr2:238617223:G:A 2259_103_35_A->T 0.000199681 287 chr2:238657848:C:T 2259_196_66_R->C 0.000199681 287 chr2:238657858:C:T 2259_206_69_P->L 0.00159744 287 chr2:238657869:G:A 2259_217_73_A->T 0.000199681 287 chr2:238657906:G:A 2259_254_85_R->Q 0.000199681 287 chr2:238657944:G:A 2259_292_98_E->K 0.000199681 287 chr2:238661983:A:G 2259_347_116_K->R 0.000399361 287 chr2:238662106:A:G 2259_470_157_Y->C 0.000199681 287 chr2:238664762:C:A 2259_511_171_H->N 0.000199681 287 chr2:238664765:A:C 2259_514_172_S->R 0.000599042 287 chr2:238668716:A:G 2259_589_197_I->V 0.000199681 287 chr2:238668732:A:G 2259_605_202_E->G 0.000199681 287 chr2:238668737:G:A 2259_610_204_A->T 0.000199681 287 chr2:238668783:A:G 2259_656_219_Q->R 0.034345 287 chr2:238668848:G:C 2259_721_241_G->R 0.000199681 287 chr2:238671285:C:T 2259_761_254_A->V 0.000199681 287 chr2:238671294:G:A 2259_770_257_G->E 0.000199681 287 chr2:238671371:G:T 2259_847_283_V->L 0.000199681 287 chr2:238671387:A:G 2259_863_288_E->G 0.000199681 287 chr2:238671446:G:C 2259_922_308_G->R 0.000199681 287 chr2:238671516:A:C 2259_992_331_Q->P 0.000199681 287 chr2:238671525:C:T 2259_1001_334_S->L 0.000199681 287 chr2:238671536:A:G 2259_1012_338_M->V 0.0421326 287 chr2:238671543:C:T 2259_1019_340_A->V 0.000199681 287 chr2:238671552:A:T 2259_1028_343_D->V 0.000399361 287 chr2:238671609:A:G 2259_1085_362_N->S 0.147963 287 chr2:238671615:C:T 2259_1091_364_T->I 0.000199681 287 chr2:238671636:C:A 2259_1112_371_A->E 0.000199681 287 chr2:238671755:A:G 2259_1231_411_S->G 0.000199681 287 chr2:238671853:C:G 2259_1329_443_N->K 0.00119808 287 chr2:238671923:G:A 2259_1399_467_A->T 0.000199681 287 chr2:238671992:G:C 2259_1468_490_D->H 0.000199681 287 chr2:238672007:G:A 2259_1483_495_D->N 0.000199681 287 chr2:238672142:A:G 2259_1618_540_T->A 0.000199681 287 chr2:238672157:G:A 2259_1633_545_D->N 0.000399361 287 chr2:238672253:A:G 2259_1729_577_K->E 0.107029 287 chr2:238672290:C:T 2259_1766_589_P->L 0.107029 287 chr2:238672335:G:A 2259_1811_604_G->D 0.000199681 287 chr2:238672422:C:T 2259_1898_633_P->L 0.000199681 287 chr2:238672425:G:C 2259_1901_634_R->T 0.0339457 287 chr2:238672517:G:A 2259_1993_665_E->K 0.000399361 287 chr2:238672523:G:A 2259_1999_667_A->T 0.000599042 287 chr2:238672544:G:A 2259_2020_674_E->K 0.000199681 287 chr2:238672556:C:T 2259_2032_678_P->S 0.000199681 287 chr2:238672568:A:G 2259_2044_682_I->V 0.000199681 287 chr2:238672691:A:G 2259_2167_723_R->G 0.0585064 287 chr2:238672703:C:G 2259_2179_727_H->D 0.360024 287 chr2:238672764:A:G 2259_2240_747_E->G 0.000199681 287 na12878 Variants: 287 chr2:238672703:C:G 2259_2179_727_H->D 287 snyder Variants: 287 chr2:238672703:C:G 2259_2179_727_H->D 288 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124831_ENST00000244815 gene_Name: LRRF1_HUMAN 288 list of pdbs: 288 4H22 pdb_description: 07-Nov-12 X-ray 2.890 Crystal structure of the dimeric coiled-coil domain of thE C nucleic acid sensor lrrfip1 288 Zimmer Variants: 288 chr2:238672703:C:G 2355_2275_759_H->D 288 HGMD Variants: 288 chr2:238672425:G:C 2355_1997_666_R->T 288 oneKG Variants: 288 chr2:238671386:G:T 2355_958_320_E->* 0.000199681 288 chr2:238601134:C:G 2355_36_12_I->M 0.000399361 288 chr2:238617202:G:A 2355_82_28_A->T 0.000199681 288 chr2:238617212:G:A 2355_92_31_R->Q 0.000399361 288 chr2:238617223:G:A 2355_103_35_A->T 0.000199681 288 chr2:238628187:C:G 2355_175_59_R->G 0.000199681 288 chr2:238628188:G:A 2355_176_59_R->H 0.000399361 288 chr2:238657848:C:T 2355_292_98_R->C 0.000199681 288 chr2:238657858:C:T 2355_302_101_P->L 0.00159744 288 chr2:238657869:G:A 2355_313_105_A->T 0.000199681 288 chr2:238657906:G:A 2355_350_117_R->Q 0.000199681 288 chr2:238657944:G:A 2355_388_130_E->K 0.000199681 288 chr2:238661983:A:G 2355_443_148_K->R 0.000399361 288 chr2:238662106:A:G 2355_566_189_Y->C 0.000199681 288 chr2:238664762:C:A 2355_607_203_H->N 0.000199681 288 chr2:238664765:A:C 2355_610_204_S->R 0.000599042 288 chr2:238668716:A:G 2355_685_229_I->V 0.000199681 288 chr2:238668732:A:G 2355_701_234_E->G 0.000199681 288 chr2:238668737:G:A 2355_706_236_A->T 0.000199681 288 chr2:238668783:A:G 2355_752_251_Q->R 0.034345 288 chr2:238668848:G:C 2355_817_273_G->R 0.000199681 288 chr2:238671285:C:T 2355_857_286_A->V 0.000199681 288 chr2:238671294:G:A 2355_866_289_G->E 0.000199681 288 chr2:238671371:G:T 2355_943_315_V->L 0.000199681 288 chr2:238671387:A:G 2355_959_320_E->G 0.000199681 288 chr2:238671446:G:C 2355_1018_340_G->R 0.000199681 288 chr2:238671516:A:C 2355_1088_363_Q->P 0.000199681 288 chr2:238671525:C:T 2355_1097_366_S->L 0.000199681 288 chr2:238671536:A:G 2355_1108_370_M->V 0.0421326 288 chr2:238671543:C:T 2355_1115_372_A->V 0.000199681 288 chr2:238671552:A:T 2355_1124_375_D->V 0.000399361 288 chr2:238671609:A:G 2355_1181_394_N->S 0.147963 288 chr2:238671615:C:T 2355_1187_396_T->I 0.000199681 288 chr2:238671636:C:A 2355_1208_403_A->E 0.000199681 288 chr2:238671755:A:G 2355_1327_443_S->G 0.000199681 288 chr2:238671853:C:G 2355_1425_475_N->K 0.00119808 288 chr2:238671923:G:A 2355_1495_499_A->T 0.000199681 288 chr2:238671992:G:C 2355_1564_522_D->H 0.000199681 288 chr2:238672007:G:A 2355_1579_527_D->N 0.000199681 288 chr2:238672142:A:G 2355_1714_572_T->A 0.000199681 288 chr2:238672157:G:A 2355_1729_577_D->N 0.000399361 288 chr2:238672253:A:G 2355_1825_609_K->E 0.107029 288 chr2:238672290:C:T 2355_1862_621_P->L 0.107029 288 chr2:238672335:G:A 2355_1907_636_G->D 0.000199681 288 chr2:238672422:C:T 2355_1994_665_P->L 0.000199681 288 chr2:238672425:G:C 2355_1997_666_R->T 0.0339457 288 chr2:238672517:G:A 2355_2089_697_E->K 0.000399361 288 chr2:238672523:G:A 2355_2095_699_A->T 0.000599042 288 chr2:238672544:G:A 2355_2116_706_E->K 0.000199681 288 chr2:238672556:C:T 2355_2128_710_P->S 0.000199681 288 chr2:238672568:A:G 2355_2140_714_I->V 0.000199681 288 chr2:238672691:A:G 2355_2263_755_R->G 0.0585064 288 chr2:238672703:C:G 2355_2275_759_H->D 0.360024 288 chr2:238672764:A:G 2355_2336_779_E->G 0.000199681 288 na12878 Variants: 288 chr2:238672703:C:G 2355_2275_759_H->D 288 snyder Variants: 288 chr2:238672703:C:G 2355_2275_759_H->D 289 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124831_ENST00000392000 gene_Name: LRRF1_HUMAN 289 list of pdbs: 289 4H22 pdb_description: 07-Nov-12 X-ray 2.890 Crystal structure of the dimeric coiled-coil domain of thE C nucleic acid sensor lrrfip1 289 Zimmer Variants: 289 chr2:238672703:C:G 2427_2347_783_H->D;HUB=PHOS;GNEG=Yes;GENE=LRRFIP1;CDSS=3;DBRECUR=LRRFIP1 289 HGMD Variants: 289 chr2:238672425:G:C 2427_2069_690_R->T 289 oneKG Variants: 289 chr2:238671386:G:T 2427_1030_344_E->* 0.000199681 289 chr2:238601134:C:G 2427_36_12_I->M 0.000399361 289 chr2:238617202:G:A 2427_82_28_A->T 0.000199681 289 chr2:238617212:G:A 2427_92_31_R->Q 0.000399361 289 chr2:238617223:G:A 2427_103_35_A->T 0.000199681 289 chr2:238628187:C:G 2427_175_59_R->G 0.000199681 289 chr2:238628188:G:A 2427_176_59_R->H 0.000399361 289 chr2:238657848:C:T 2427_292_98_R->C 0.000199681 289 chr2:238657858:C:T 2427_302_101_P->L 0.00159744 289 chr2:238657869:G:A 2427_313_105_A->T 0.000199681 289 chr2:238657906:G:A 2427_350_117_R->Q 0.000199681 289 chr2:238657944:G:A 2427_388_130_E->K 0.000199681 289 chr2:238661983:A:G 2427_515_172_K->R 0.000399361 289 chr2:238662106:A:G 2427_638_213_Y->C 0.000199681 289 chr2:238664762:C:A 2427_679_227_H->N 0.000199681 289 chr2:238664765:A:C 2427_682_228_S->R 0.000599042 289 chr2:238668716:A:G 2427_757_253_I->V 0.000199681 289 chr2:238668732:A:G 2427_773_258_E->G 0.000199681 289 chr2:238668737:G:A 2427_778_260_A->T 0.000199681 289 chr2:238668783:A:G 2427_824_275_Q->R 0.034345 289 chr2:238668848:G:C 2427_889_297_G->R 0.000199681 289 chr2:238671285:C:T 2427_929_310_A->V 0.000199681 289 chr2:238671294:G:A 2427_938_313_G->E 0.000199681 289 chr2:238671371:G:T 2427_1015_339_V->L 0.000199681 289 chr2:238671387:A:G 2427_1031_344_E->G 0.000199681 289 chr2:238671446:G:C 2427_1090_364_G->R 0.000199681 289 chr2:238671516:A:C 2427_1160_387_Q->P 0.000199681 289 chr2:238671525:C:T 2427_1169_390_S->L 0.000199681 289 chr2:238671536:A:G 2427_1180_394_M->V 0.0421326 289 chr2:238671543:C:T 2427_1187_396_A->V 0.000199681 289 chr2:238671552:A:T 2427_1196_399_D->V 0.000399361 289 chr2:238671609:A:G 2427_1253_418_N->S 0.147963 289 chr2:238671615:C:T 2427_1259_420_T->I 0.000199681 289 chr2:238671636:C:A 2427_1280_427_A->E 0.000199681 289 chr2:238671755:A:G 2427_1399_467_S->G 0.000199681 289 chr2:238671853:C:G 2427_1497_499_N->K 0.00119808 289 chr2:238671923:G:A 2427_1567_523_A->T 0.000199681 289 chr2:238671992:G:C 2427_1636_546_D->H 0.000199681 289 chr2:238672007:G:A 2427_1651_551_D->N 0.000199681 289 chr2:238672142:A:G 2427_1786_596_T->A 0.000199681 289 chr2:238672157:G:A 2427_1801_601_D->N 0.000399361 289 chr2:238672253:A:G 2427_1897_633_K->E 0.107029 289 chr2:238672290:C:T 2427_1934_645_P->L 0.107029 289 chr2:238672335:G:A 2427_1979_660_G->D 0.000199681 289 chr2:238672422:C:T 2427_2066_689_P->L 0.000199681 289 chr2:238672425:G:C 2427_2069_690_R->T 0.0339457 289 chr2:238672517:G:A 2427_2161_721_E->K 0.000399361 289 chr2:238672523:G:A 2427_2167_723_A->T 0.000599042 289 chr2:238672544:G:A 2427_2188_730_E->K 0.000199681 289 chr2:238672556:C:T 2427_2200_734_P->S 0.000199681 289 chr2:238672568:A:G 2427_2212_738_I->V 0.000199681 289 chr2:238672691:A:G 2427_2335_779_R->G 0.0585064 289 chr2:238672703:C:G 2427_2347_783_H->D 0.360024 289 chr2:238672764:A:G 2427_2408_803_E->G 0.000199681 289 na12878 Variants: 289 chr2:238672703:C:G 2427_2347_783_H->D 289 snyder Variants: 289 chr2:238672703:C:G 2427_2347_783_H->D 290 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115760_ENST00000421745 gene_Name: BIRC6_HUMAN 290 list of pdbs: 290 3CEG pdb_description: 01-Apr-08 X-ray 2.010 Crystal structure of the ubc domain of baculoviral iap repea containing protein 6 290 Zimmer Variants: 290 chr2:32667182:G:C 14574_3994_1332_V->L;GNEG=Yes;GENE=BIRC6;CDSS=3;DBRECUR=BIRC6 290 chr2:32713706:A:T 14574_8020_2674_T->S;GNEG=Yes;GENE=BIRC6;CDSS=3;DBRECUR=BIRC6 290 HGMD Variants: 290 chr2:32660650:C:T 14574_3496_1166_Q->* 290 oneKG Variants: 290 chr2:32582276:C:G 14574_47_16_P->R 0.000199681 290 chr2:32582422:T:A 14574_193_65_C->S 0.000199681 290 chr2:32602829:G:A 14574_499_167_V->I 0.000399361 290 chr2:32605264:C:G 14574_551_184_S->C 0.000199681 290 chr2:32613831:C:A 14574_659_220_T->K 0.000399361 290 chr2:32626374:C:T 14574_1178_393_S->L 0.000199681 290 chr2:32631592:A:G 14574_1444_482_S->G 0.000199681 290 chr2:32631593:G:A 14574_1445_482_S->N 0.000199681 290 chr2:32639993:C:G 14574_1634_545_T->R 0.000199681 290 chr2:32640038:A:C 14574_1679_560_H->P 0.00119808 290 chr2:32640097:A:G 14574_1738_580_T->A 0.000199681 290 chr2:32640163:A:G 14574_1804_602_I->V 0.000199681 290 chr2:32640173:A:G 14574_1814_605_Q->R 0.000199681 290 chr2:32640188:A:G 14574_1829_610_N->S 0.000199681 290 chr2:32640240:A:C 14574_1881_627_L->F 0.000399361 290 chr2:32640403:G:A 14574_2044_682_D->N 0.000199681 290 chr2:32640450:C:A 14574_2091_697_N->K 0.000199681 290 chr2:32640461:C:T 14574_2102_701_P->L 0.000599042 290 chr2:32640481:T:C 14574_2122_708_S->P 0.000199681 290 chr2:32640689:G:A 14574_2330_777_C->Y 0.000199681 290 chr2:32640782:A:G 14574_2423_808_Q->R 0.000399361 290 chr2:32641040:C:T 14574_2681_894_T->M 0.0103834 290 chr2:32641135:G:C 14574_2776_926_V->L 0.000199681 290 chr2:32654247:C:A 14574_2906_969_T->N 0.000399361 290 chr2:32654266:A:C 14574_2925_975_E->D 0.000599042 290 chr2:32655986:G:T 14574_3076_1026_V->L 0.000599042 290 chr2:32656154:G:A 14574_3244_1082_D->N 0.000199681 290 chr2:32658788:G:C 14574_3325_1109_V->L 0.000199681 290 chr2:32660600:C:T 14574_3446_1149_S->F 0.000399361 290 chr2:32661234:A:G 14574_3613_1205_S->G 0.000199681 290 chr2:32664594:A:G 14574_3650_1217_Y->C 0.000199681 290 chr2:32664636:G:A 14574_3692_1231_G->E 0.000199681 290 chr2:32664660:G:T 14574_3716_1239_G->V 0.000599042 290 chr2:32667182:G:C 14574_3994_1332_V->L 0.0 290 chr2:32667216:A:T 14574_4028_1343_Q->L 0.0101837 290 chr2:32667290:G:A 14574_4102_1368_G->R 0.000199681 290 chr2:32667393:T:C 14574_4108_1370_S->P 0.000798722 290 chr2:32667437:T:A 14574_4152_1384_F->L 0.000199681 290 chr2:32668567:A:C 14574_4247_1416_K->T 0.000199681 290 chr2:32670711:C:G 14574_4459_1487_P->A 0.000199681 290 chr2:32673973:T:C 14574_4595_1532_I->T 0.000199681 290 chr2:32678878:A:T 14574_4621_1541_N->Y 0.000798722 290 chr2:32678891:G:C 14574_4634_1545_S->T 0.000199681 290 chr2:32678962:A:T 14574_4705_1569_T->S 0.000199681 290 chr2:32688279:A:G 14574_4771_1591_T->A 0.000798722 290 chr2:32688351:G:A 14574_4843_1615_V->I 0.000199681 290 chr2:32688390:G:A 14574_4882_1628_E->K 0.000199681 290 chr2:32689656:A:G 14574_5021_1674_N->S 0.000199681 290 chr2:32689742:C:G 14574_5107_1703_L->V 0.000199681 290 chr2:32689829:G:A 14574_5194_1732_V->I 0.00419329 290 chr2:32689838:C:G 14574_5203_1735_P->A 0.00479233 290 chr2:32689842:C:T 14574_5207_1736_P->L 0.00359425 290 chr2:32689878:A:G 14574_5243_1748_N->S 0.000199681 290 chr2:32690161:C:A 14574_5285_1762_A->E 0.000199681 290 chr2:32690219:G:C 14574_5343_1781_E->D 0.000199681 290 chr2:32692685:A:G 14574_5449_1817_I->V 0.000399361 290 chr2:32692778:A:G 14574_5542_1848_I->V 0.000199681 290 chr2:32692971:A:G 14574_5572_1858_I->V 0.000199681 290 chr2:32693059:G:C 14574_5660_1887_W->S 0.000199681 290 chr2:32693146:T:C 14574_5747_1916_M->T 0.000199681 290 chr2:32693533:A:G 14574_5809_1937_T->A 0.000399361 290 chr2:32693629:A:G 14574_5905_1969_R->G 0.000199681 290 chr2:32693708:A:C 14574_5984_1995_K->T 0.000199681 290 chr2:32693765:T:C 14574_6041_2014_L->S 0.000199681 290 chr2:32695243:A:G 14574_6355_2119_M->V 0.000199681 290 chr2:32695295:A:G 14574_6407_2136_E->G 0.000199681 290 chr2:32696112:T:C 14574_6512_2171_V->A 0.000199681 290 chr2:32696150:A:G 14574_6550_2184_T->A 0.000399361 290 chr2:32696169:C:T 14574_6569_2190_A->V 0.000199681 290 chr2:32698183:A:G 14574_6596_2199_N->S 0.000399361 290 chr2:32702455:G:A 14574_6872_2291_R->H 0.000399361 290 chr2:32702481:C:T 14574_6898_2300_R->C 0.000199681 290 chr2:32703771:G:T 14574_7137_2379_Q->H 0.000199681 290 chr2:32704553:G:C 14574_7276_2426_A->P 0.000399361 290 chr2:32706427:T:C 14574_7448_2483_I->T 0.000199681 290 chr2:32706507:G:A 14574_7528_2510_A->T 0.000199681 290 chr2:32706513:G:T 14574_7534_2512_V->F 0.000199681 290 chr2:32707617:G:A 14574_7663_2555_G->R 0.000199681 290 chr2:32707650:G:A 14574_7696_2566_A->T 0.000399361 290 chr2:32710787:G:T 14574_7774_2592_D->Y 0.000199681 290 chr2:32713706:A:T 14574_8020_2674_T->S 0.439097 290 chr2:32715119:A:G 14574_8107_2703_S->G 0.0 290 chr2:32716563:C:T 14574_8278_2760_H->Y 0.000199681 290 chr2:32718727:A:T 14574_8461_2821_T->S 0.000199681 290 chr2:32724715:C:G 14574_8570_2857_S->C 0.00159744 290 chr2:32724717:G:A 14574_8572_2858_A->T 0.000199681 290 chr2:32724720:G:A 14574_8575_2859_V->M 0.000199681 290 chr2:32724770:C:G 14574_8625_2875_D->E 0.000199681 290 chr2:32724799:G:A 14574_8654_2885_S->N 0.000399361 290 chr2:32724847:T:C 14574_8702_2901_I->T 0.000199681 290 chr2:32724853:C:A 14574_8708_2903_P->Q 0.000199681 290 chr2:32724888:A:G 14574_8743_2915_R->G 0.000199681 290 chr2:32724981:G:C 14574_8836_2946_V->L 0.000199681 290 chr2:32725045:A:G 14574_8900_2967_N->S 0.000199681 290 chr2:32725048:G:A 14574_8903_2968_G->E 0.000199681 290 chr2:32725054:G:C 14574_8909_2970_S->T 0.000199681 290 chr2:32725060:G:C 14574_8915_2972_S->T 0.000199681 290 chr2:32726913:G:C 14574_9165_3055_Q->H 0.000199681 290 chr2:32726954:A:G 14574_9206_3069_Q->R 0.000798722 290 chr2:32730219:C:T 14574_9647_3216_A->V 0.000199681 290 chr2:32733184:C:G 14574_9838_3280_L->V 0.000199681 290 chr2:32734847:A:G 14574_10023_3341_I->M 0.000199681 290 chr2:32734912:C:T 14574_10088_3363_A->V 0.000199681 290 chr2:32734963:T:C 14574_10139_3380_V->A 0.000998403 290 chr2:32735632:T:A 14574_10277_3426_L->H 0.000199681 290 chr2:32738094:A:G 14574_10441_3481_T->A 0.000199681 290 chr2:32740244:C:G 14574_10756_3586_Q->E 0.000199681 290 chr2:32740254:G:A 14574_10766_3589_S->N 0.000199681 290 chr2:32740295:C:G 14574_10807_3603_L->V 0.000998403 290 chr2:32740353:C:T 14574_10865_3622_A->V 0.000798722 290 chr2:32740446:T:A 14574_10958_3653_I->N 0.000199681 290 chr2:32740454:T:G 14574_10966_3656_S->A 0.000199681 290 chr2:32740492:T:A 14574_11004_3668_H->Q 0.000199681 290 chr2:32740520:A:G 14574_11032_3678_I->V 0.000599042 290 chr2:32740614:A:G 14574_11126_3709_N->S 0.000199681 290 chr2:32740695:C:A 14574_11207_3736_T->N 0.00519169 290 chr2:32740754:C:T 14574_11266_3756_R->C 0.000199681 290 chr2:32740755:G:A 14574_11267_3756_R->H 0.000798722 290 chr2:32743370:C:T 14574_11399_3800_T->I 0.000199681 290 chr2:32750042:C:T 14574_11711_3904_A->V 0.000399361 290 chr2:32750591:G:T 14574_11816_3939_R->M 0.000199681 290 chr2:32754795:C:T 14574_11998_4000_R->C 0.000399361 290 chr2:32754838:C:T 14574_12041_4014_T->I 0.000199681 290 chr2:32756598:T:C 14574_12271_4091_Y->H 0.000199681 290 chr2:32768314:G:A 14574_12298_4100_A->T 0.000199681 290 chr2:32768467:T:A 14574_12451_4151_S->T 0.000199681 290 chr2:32770737:A:G 14574_12620_4207_N->S 0.000798722 290 chr2:32770913:G:A 14574_12796_4266_V->M 0.000399361 290 chr2:32772930:G:C 14574_12824_4275_S->T 0.0 290 chr2:32774497:A:C 14574_13093_4365_S->R 0.000199681 290 chr2:32800327:A:G 14574_13249_4417_T->A 0.000199681 290 chr2:32800362:A:T 14574_13284_4428_E->D 0.00599042 290 chr2:32819010:G:A 14574_13384_4462_V->I 0.00459265 290 chr2:32819071:A:G 14574_13445_4482_Q->R 0.000199681 290 chr2:32820154:T:C 14574_13555_4519_S->P 0.000199681 290 chr2:32822842:A:G 14574_13637_4546_D->G 0.000199681 290 chr2:32822848:A:G 14574_13643_4548_D->G 0.000199681 290 chr2:32822885:G:A 14574_13680_4560_M->I 0.000998403 290 chr2:32822899:A:T 14574_13694_4565_N->I 0.000199681 290 chr2:32824932:G:A 14574_13957_4653_V->M 0.000199681 290 chr2:32836549:A:G 14574_14294_4765_E->G 0.000599042 290 chr2:32842799:C:G 14574_14402_4801_T->S 0.000199681 290 chr2:32842834:T:A 14574_14437_4813_C->S 0.000399361 290 chr2:32842844:G:C 14574_14447_4816_G->A 0.000199681 290 chr2:32842850:A:G 14574_14453_4818_D->G 0.000199681 290 chr2:32842895:G:A 14574_14498_4833_G->D 0.000399361 290 na12878 Variants: 290 chr2:32667182:G:C 14574_3994_1332_V->L 290 chr2:32713706:A:T 14574_8020_2674_T->S 290 snyder Variants: 290 chr2:32667182:G:C 14574_3994_1332_V->L 290 chr2:32713706:A:T 14574_8020_2674_T->S 291 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138039_ENST00000294954 gene_Name: LSHR_HUMAN 291 list of pdbs: 291 1LUT pdb_description: 21-Apr-97 Theoret model Theoretical model of glycoprotein hormone receptor 291 1XUL pdb_description: 15-May-97 Theoret model Theoretical model of the ligand-binding region of lutropin receptor complexed with human chorionic gonadotropin 291 Zimmer Variants: 291 chr2:48921375:T:C 2100_935_312_N->S 291 HGMD Variants: 291 chr2:48915100:A:C 2100_1836_612_Y->* 291 chr2:48915276:G:A 2100_1660_554_R->* 291 chr2:48915301:G:T 2100_1635_545_C->* 291 chr2:48915463:C:T 2100_1473_491_W->* 291 chr2:48915541:C:T 2100_1395_465_W->* 291 chr2:48921403:G:A 2100_907_303_Q->* 291 chr2:48941168:C:A 2100_562_188_E->* 291 chr2:48915062:A:T 2100_1874_625_I->K 291 chr2:48915068:T:G 2100_1868_623_Y->S 291 chr2:48915086:C:T 2100_1850_617_C->Y 291 chr2:48915089:G:T 2100_1847_616_S->Y 291 chr2:48915159:C:G 2100_1777_593_A->P 291 chr2:48915195:A:G 2100_1741_581_C->R 291 chr2:48915202:A:T 2100_1734_578_D->E 291 chr2:48915203:T:C 2100_1733_578_D->G 291 chr2:48915204:C:A 2100_1732_578_D->Y 291 chr2:48915206:G:A 2100_1730_577_T->I 291 chr2:48915213:T:G 2100_1723_575_I->L 291 chr2:48915221:G:A 2100_1715_572_A->V 291 chr2:48915223:C:T 2100_1713_571_M->I 291 chr2:48915233:G:A 2100_1703_568_A->V 291 chr2:48915245:T:A 2100_1691_564_D->V 291 chr2:48915245:T:C 2100_1691_564_D->G 291 chr2:48915309:A:G 2100_1627_543_C->R 291 chr2:48915312:T:G 2100_1624_542_I->L 291 chr2:48915431:A:G 2100_1505_502_L->P 291 chr2:48915554:G:A 2100_1382_461_T->I 291 chr2:48915566:A:C 2100_1370_457_L->R 291 chr2:48915692:A:G 2100_1244_415_I->T 291 chr2:48915737:T:C 2100_1199_400_N->S 291 chr2:48915743:A:G 2100_1193_398_M->T 291 chr2:48915761:G:A 2100_1175_392_T->I 291 chr2:48915815:A:G 2100_1121_374_I->T 291 chr2:48915818:G:A 2100_1118_373_A->V 291 chr2:48915833:A:G 2100_1103_368_L->P 291 chr2:48915876:C:T 2100_1060_354_E->K 291 chr2:48915909:A:T 2100_1027_343_C->S 291 chr2:48921375:T:C 2100_935_312_N->S 291 chr2:48921438:T:C 2100_872_291_N->S 291 chr2:48941150:A:C 2100_580_194_F->V 291 chr2:48950764:A:G 2100_455_152_I->T 291 chr2:48950789:C:T 2100_430_144_V->I 291 chr2:48950789:C:A 2100_430_144_V->F 291 chr2:48950821:G:C 2100_398_133_T->R 291 chr2:48950828:A:G 2100_391_131_C->R 291 chr2:48952858:T:A 2100_340_114_I->F 291 oneKG Variants: 291 chr2:48914871:C:T 2100_2065_689_A->T 0.000199681 291 chr2:48914934:T:G 2100_2002_668_T->P 0.000199681 291 chr2:48914996:C:T 2100_1940_647_R->Q 0.000399361 291 chr2:48914999:C:T 2100_1937_646_R->H 0.000199681 291 chr2:48915000:G:A 2100_1936_646_R->C 0.000199681 291 chr2:48915020:C:T 2100_1916_639_S->N 0.000599042 291 chr2:48915074:A:G 2100_1862_621_F->S 0.000199681 291 chr2:48915089:G:T 2100_1847_616_S->Y 0.000199681 291 chr2:48915105:A:C 2100_1831_611_F->V 0.000399361 291 chr2:48915108:G:C 2100_1828_610_L->V 0.000199681 291 chr2:48915267:C:T 2100_1669_557_E->K 0.00399361 291 chr2:48915308:C:T 2100_1628_543_C->Y 0.000199681 291 chr2:48915410:A:G 2100_1526_509_M->T 0.000199681 291 chr2:48915426:C:T 2100_1510_504_G->S 0.000199681 291 chr2:48915576:C:T 2100_1360_454_V->I 0.00119808 291 chr2:48915673:T:A 2100_1263_421_Q->H 0.000599042 291 chr2:48915677:G:A 2100_1259_420_S->F 0.000599042 291 chr2:48915759:C:T 2100_1177_393_V->M 0.000199681 291 chr2:48915773:C:T 2100_1163_388_R->H 0.000199681 291 chr2:48915926:A:G 2100_1010_337_L->S 0.00459265 291 chr2:48915935:C:T 2100_1001_334_G->D 0.000199681 291 chr2:48921375:T:C 2100_935_312_N->S 0.408946 291 chr2:48921381:T:G 2100_929_310_K->T 0.000199681 291 chr2:48921438:T:C 2100_872_291_N->S 0.0119808 291 chr2:48925790:C:G 2100_830_277_S->T 0.000199681 291 chr2:48925820:T:C 2100_800_267_N->S 0.000599042 291 chr2:48925921:T:A 2100_699_233_K->N 0.000199681 291 chr2:48925935:T:G 2100_685_229_I->L 0.000199681 291 chr2:48936111:C:T 2100_656_219_R->H 0.000199681 291 chr2:48936122:A:T 2100_645_215_N->K 0.000199681 291 chr2:48936145:C:T 2100_622_208_V->I 0.00439297 291 chr2:48941162:G:T 2100_568_190_Q->K 0.00239617 291 chr2:48950789:C:T 2100_430_144_V->I 0.000199681 291 chr2:48950808:C:G 2100_411_137_K->N 0.000599042 291 chr2:48952820:T:G 2100_378_126_K->N 0.00119808 291 chr2:48952845:G:T 2100_353_118_A->E 0.000199681 291 chr2:48956292:A:T 2100_308_103_I->K 0.000199681 291 chr2:48956308:G:A 2100_292_98_L->F 0.000199681 291 chr2:48956341:C:T 2100_259_87_E->K 0.000199681 291 chr2:48958430:C:T 2100_169_57_A->T 0.000199681 291 chr2:48982737:A:C 2100_74_25_L->R 0.000199681 291 na12878 Variants: 291 chr2:48921375:T:C 2100_935_312_N->S 291 snyder Variants: 291 chr2:48921375:T:C 2100_935_312_N->S 292 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100985_ENST00000372330 gene_Name: MMP9_HUMAN 292 list of pdbs: 292 4HMA pdb_description: 24-Apr-13 X-ray 1.940 Crystal structure of an mmp twin carboxylate based inhibitor complex with the mmp-9 catalytic domain 292 4H82 pdb_description: 01-May-13 X-ray 1.900 Crystal structure of mutant mmp-9 catalytic domain in comple twin inhibitor. 292 4H3X pdb_description: 24-Apr-13 X-ray 1.760 Crystal structure of an mmp broad spectrum hydroxamate based cc27 in complex with the mmp-9 catalytic domain 292 4H2E pdb_description: 24-Apr-13 X-ray 2.900 Crystal structure of an mmp twin inhibitor complexing two mm catalytic domains 292 4H1Q pdb_description: 24-Apr-13 X-ray 1.590 Crystal structure of mutant mmp-9 catalytic domain in comple twin inhibitor. 292 2OW2 pdb_description: 19-Jun-07 X-ray 2.900 Mmp-9 active site mutant with difluoro butanoic acid inhibit 292 2OW1 pdb_description: 19-Jun-07 X-ray 2.200 Mmp-9 active site mutant with trifluoromethyl hydroxamate in 292 2OW0 pdb_description: 19-Jun-07 X-ray 2.000 Mmp-9 active site mutant with iodine-labeled carboxylate inhibitor 292 2OVZ pdb_description: 19-Jun-07 X-ray 2.000 Mmp-9 active site mutant with phosphinate inhibitor 292 2OVX pdb_description: 19-Jun-07 X-ray 2.000 Mmp-9 active site mutant with barbiturate inhibitor 292 1LKG pdb_description: 15-May-02 Theoret model Theoretical model of human type iv collagenase precursor 292 1L6J pdb_description: 03-Jul-02 X-ray 2.500 Crystal structure of human matrix metalloproteinase mmp9 (gelatinase b). 292 1ITV pdb_description: 04-Sep-02 X-ray 1.950 Dimeric form of the haemopexin domain of mmp9 292 1GKD pdb_description: 16-May-02 X-ray 2.100 Mmp9 active site mutant-inhibitor complex 292 1GKC pdb_description: 16-May-02 X-ray 2.300 Mmp9-inhibitor complex 292 Zimmer Variants: 292 chr20:44642406:G:C 2124_1721_574_R->P;HUB=PPI;GENE=MMP9;CDSS=3 292 HGMD Variants: 292 chr20:44637567:T:A 2124_2_1_M->K 292 chr20:44640225:A:G 2124_836_279_Q->R 292 chr20:44642406:G:C 2124_1721_574_R->P 292 chr20:44643111:G:A 2124_2003_668_R->Q 292 oneKG Variants: 292 chr20:44642831:G:T 2124_1819_607_G->* 0.000199681 292 chr20:44637567:T:A 2124_2_1_M->K 0.000798722 292 chr20:44637624:C:T 2124_59_20_A->V 0.0327476 292 chr20:44637635:C:T 2124_70_24_R->C 0.000998403 292 chr20:44637645:C:T 2124_80_27_T->I 0.000199681 292 chr20:44637678:A:G 2124_113_38_N->S 0.00798722 292 chr20:44637686:G:A 2124_121_41_D->N 0.000199681 292 chr20:44638616:G:A 2124_250_84_G->S 0.000199681 292 chr20:44638653:C:G 2124_287_96_T->S 0.000199681 292 chr20:44639147:C:T 2124_397_133_P->S 0.000199681 292 chr20:44639214:C:T 2124_464_155_T->I 0.000399361 292 chr20:44639588:G:C 2124_548_183_G->A 0.000199681 292 chr20:44639599:C:T 2124_559_187_L->F 0.00199681 292 chr20:44639678:G:A 2124_638_213_G->D 0.000199681 292 chr20:44639848:G:A 2124_716_239_R->H 0.00978435 292 chr20:44639905:C:T 2124_773_258_T->I 0.000998403 292 chr20:44639954:G:C 2124_822_274_E->D 0.000998403 292 chr20:44640225:A:G 2124_836_279_Q->R 0.455471 292 chr20:44640228:A:G 2124_839_280_D->G 0.000199681 292 chr20:44640275:G:A 2124_886_296_G->S 0.000998403 292 chr20:44640347:T:A 2124_958_320_Y->N 0.000199681 292 chr20:44640788:T:C 2124_1010_337_V->A 0.000199681 292 chr20:44640944:C:T 2124_1166_389_P->L 0.000399361 292 chr20:44641099:T:A 2124_1208_403_F->Y 0.000199681 292 chr20:44641186:A:G 2124_1295_432_H->R 0.000199681 292 chr20:44641938:C:T 2124_1375_459_P->S 0.000199681 292 chr20:44641977:C:T 2124_1414_472_P->S 0.000399361 292 chr20:44642020:C:T 2124_1457_486_T->I 0.000199681 292 chr20:44642031:T:A 2124_1468_490_S->T 0.000199681 292 chr20:44642121:A:C 2124_1558_520_I->L 0.000199681 292 chr20:44642379:G:T 2124_1694_565_R->L 0.000199681 292 chr20:44642406:G:C 2124_1721_574_R->P 0.169728 292 chr20:44642813:C:G 2124_1801_601_L->V 0.000399361 292 chr20:44642816:G:C 2124_1804_602_D->H 0.000199681 292 chr20:44642855:G:T 2124_1843_615_G->W 0.000199681 292 chr20:44642862:T:C 2124_1850_617_L->P 0.000199681 292 chr20:44642897:G:A 2124_1885_629_G->R 0.000199681 292 chr20:44642903:C:A 2124_1891_631_R->S 0.000798722 292 chr20:44643072:C:T 2124_1964_655_P->L 0.000199681 292 chr20:44643111:G:A 2124_2003_668_R->Q 0.190895 292 chr20:44644898:A:T 2124_2015_672_Y->F 0.000199681 292 chr20:44644927:G:A 2124_2044_682_V->M 0.000599042 292 na12878 Variants: 292 chr20:44642406:G:C 2124_1721_574_R->P 292 snyder Variants: 292 chr20:44640225:A:G 2124_836_279_Q->R 292 chr20:44642406:G:C 2124_1721_574_R->P 293 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159110_ENST00000382264 gene_Name: INAR2_HUMAN 293 list of pdbs: 293 3S8W pdb_description: 31-Aug-11 X-ray 2.600 D2 domain of human ifnar2 293 1N6V pdb_description: 15-Jul-03 NMR 1 Average structure of the interferon-binding ectodomain of the human type i interferon receptor 293 1N6U pdb_description: 15-Jul-03 NMR 22 Nmr structure of the interferon-binding ectodomain of the human interferon receptor 293 3SE4 pdb_description: 31-Aug-11 X-ray 3.500 Human ifnw-ifnar ternary complex 293 3SE3 pdb_description: 31-Aug-11 X-ray 4.000 Human ifna2-ifnar ternary complex 293 3S9D pdb_description: 31-Aug-11 X-ray 2.000 Binary complex between ifna2 and ifnar2 293 2LAG pdb_description: 17-Aug-11 NMR 10 Structure of the 44 kda complex of interferon-alpha2 with th extracellular part of ifnar2 obtained by 2d-double differen 293 2KZ1 pdb_description: 23-Jun-10 NMR 10 Inter-molecular interactions in a 44 kda interferon-receptor detected by asymmetric back-protonation and 2d noesy 293 2HYM pdb_description: 10-Oct-06 NMR 10 Nmr based docking model of the complex between the human type i interferon receptor and human interferon alpha-2 293 Zimmer Variants: 293 chr21:34614250:T:C 996_23_8_F->S 293 chr21:34614255:T:G 996_28_10_F->V 293 chr21:34634878:G:A 996_853_285_A->T 293 HGMD Variants: 293 chr21:34614250:T:C 996_23_8_F->S 293 chr21:34614255:T:G 996_28_10_F->V 293 chr21:34625012:A:C 996_586_196_I->L 293 oneKG Variants: 293 chr21:34634991:C:A 996_966_322_Y->* 0.00698882 293 chr21:34614250:T:C 996_23_8_F->S 0.11861 293 chr21:34614255:T:G 996_28_10_F->V 0.391773 293 chr21:34614259:G:C 996_32_11_R->T 0.000199681 293 chr21:34615987:G:T 996_65_22_S->I 0.000399361 293 chr21:34615992:G:A 996_70_24_V->M 0.000199681 293 chr21:34617267:G:C 996_109_37_E->Q 0.000199681 293 chr21:34617280:T:C 996_122_41_F->S 0.000199681 293 chr21:34619126:G:A 996_325_109_V->I 0.000199681 293 chr21:34621047:G:A 996_428_143_G->D 0.000199681 293 chr21:34621122:T:G 996_503_168_L->R 0.000199681 293 chr21:34621124:G:A 996_505_169_V->I 0.000798722 293 chr21:34621138:G:T 996_519_173_Q->H 0.000599042 293 chr21:34624976:G:A 996_550_184_E->K 0.000199681 293 chr21:34625012:A:G 996_586_196_I->V 0.000599042 293 chr21:34625019:A:G 996_593_198_D->G 0.000199681 293 chr21:34625021:A:G 996_595_199_K->E 0.000199681 293 chr21:34625037:C:G 996_611_204_T->R 0.00479233 293 chr21:34625114:C:T 996_688_230_L->F 0.000199681 293 chr21:34632925:G:C 996_733_245_G->R 0.000199681 293 chr21:34632998:A:G 996_806_269_Y->C 0.000199681 293 chr21:34633004:G:A 996_812_271_C->Y 0.00599042 293 chr21:34634878:G:A 996_853_285_A->T 0.435304 293 chr21:34634887:T:C 996_862_288_W->R 0.000199681 293 chr21:34634909:G:A 996_884_295_R->K 0.000199681 293 chr21:34634995:C:T 996_970_324_R->C 0.000199681 293 na12878 Variants: 293 chr21:34614250:T:C 996_23_8_F->S 293 chr21:34614255:T:G 996_28_10_F->V 293 chr21:34634878:G:A 996_853_285_A->T 293 snyder Variants: 293 chr21:34614255:T:G 996_28_10_F->V 293 chr21:34634878:G:A 996_853_285_A->T 294 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159110_ENST00000382241 gene_Name: INAR2_HUMAN 294 list of pdbs: 294 3S8W pdb_description: 31-Aug-11 X-ray 2.600 D2 domain of human ifnar2 294 1N6V pdb_description: 15-Jul-03 NMR 1 Average structure of the interferon-binding ectodomain of the human type i interferon receptor 294 1N6U pdb_description: 15-Jul-03 NMR 22 Nmr structure of the interferon-binding ectodomain of the human interferon receptor 294 3SE4 pdb_description: 31-Aug-11 X-ray 3.500 Human ifnw-ifnar ternary complex 294 3SE3 pdb_description: 31-Aug-11 X-ray 4.000 Human ifna2-ifnar ternary complex 294 3S9D pdb_description: 31-Aug-11 X-ray 2.000 Binary complex between ifna2 and ifnar2 294 2LAG pdb_description: 17-Aug-11 NMR 10 Structure of the 44 kda complex of interferon-alpha2 with th extracellular part of ifnar2 obtained by 2d-double differen 294 2KZ1 pdb_description: 23-Jun-10 NMR 10 Inter-molecular interactions in a 44 kda interferon-receptor detected by asymmetric back-protonation and 2d noesy 294 2HYM pdb_description: 10-Oct-06 NMR 10 Nmr based docking model of the complex between the human type i interferon receptor and human interferon alpha-2 294 Zimmer Variants: 294 chr21:34614250:T:C 1548_23_8_F->S 294 chr21:34614255:T:G 1548_28_10_F->V 294 HGMD Variants: 294 chr21:34614250:T:C 1548_23_8_F->S 294 chr21:34614255:T:G 1548_28_10_F->V 294 chr21:34625012:A:C 1548_586_196_I->L 294 oneKG Variants: 294 chr21:34614250:T:C 1548_23_8_F->S 0.11861 294 chr21:34614255:T:G 1548_28_10_F->V 0.391773 294 chr21:34614259:G:C 1548_32_11_R->T 0.000199681 294 chr21:34615987:G:T 1548_65_22_S->I 0.000399361 294 chr21:34615992:G:A 1548_70_24_V->M 0.000199681 294 chr21:34617267:G:C 1548_109_37_E->Q 0.000199681 294 chr21:34617280:T:C 1548_122_41_F->S 0.000199681 294 chr21:34619126:G:A 1548_325_109_V->I 0.000199681 294 chr21:34621047:G:A 1548_428_143_G->D 0.000199681 294 chr21:34621122:T:G 1548_503_168_L->R 0.000199681 294 chr21:34621124:G:A 1548_505_169_V->I 0.000798722 294 chr21:34621138:G:T 1548_519_173_Q->H 0.000599042 294 chr21:34624976:G:A 1548_550_184_E->K 0.000199681 294 chr21:34625012:A:G 1548_586_196_I->V 0.000599042 294 chr21:34625019:A:G 1548_593_198_D->G 0.000199681 294 chr21:34625021:A:G 1548_595_199_K->E 0.000199681 294 chr21:34625037:C:G 1548_611_204_T->R 0.00479233 294 chr21:34625114:C:T 1548_688_230_L->F 0.000199681 294 chr21:34632925:G:C 1548_733_245_G->R 0.000199681 294 chr21:34632998:A:G 1548_806_269_Y->C 0.000199681 294 chr21:34633004:G:A 1548_812_271_C->Y 0.00599042 294 chr21:34635116:G:A 1548_859_287_A->T 0.000199681 294 chr21:34635183:G:A 1548_926_309_R->K 0.000399361 294 chr21:34635273:T:C 1548_1016_339_M->T 0.000199681 294 chr21:34635275:C:G 1548_1018_340_H->D 0.000199681 294 chr21:34635318:C:G 1548_1061_354_S->C 0.000199681 294 chr21:34635363:A:T 1548_1106_369_D->V 0.000199681 294 chr21:34635364:C:A 1548_1107_369_D->E 0.000199681 294 chr21:34635380:G:A 1548_1123_375_V->M 0.000199681 294 chr21:34635390:C:T 1548_1133_378_P->L 0.000199681 294 chr21:34635433:T:A 1548_1176_392_S->R 0.00119808 294 chr21:34635589:A:T 1548_1332_444_E->D 0.000199681 294 chr21:34635611:C:T 1548_1354_452_H->Y 0.000599042 294 chr21:34635750:A:G 1548_1493_498_Q->R 0.000199681 294 na12878 Variants: 294 chr21:34614250:T:C 1548_23_8_F->S 294 chr21:34614255:T:G 1548_28_10_F->V 294 snyder Variants: 294 chr21:34614255:T:G 1548_28_10_F->V 295 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159110_ENST00000404220 gene_Name: INAR2_HUMAN 295 list of pdbs: 295 3S8W pdb_description: 31-Aug-11 X-ray 2.600 D2 domain of human ifnar2 295 1N6V pdb_description: 15-Jul-03 NMR 1 Average structure of the interferon-binding ectodomain of the human type i interferon receptor 295 1N6U pdb_description: 15-Jul-03 NMR 22 Nmr structure of the interferon-binding ectodomain of the human interferon receptor 295 3SE4 pdb_description: 31-Aug-11 X-ray 3.500 Human ifnw-ifnar ternary complex 295 3SE3 pdb_description: 31-Aug-11 X-ray 4.000 Human ifna2-ifnar ternary complex 295 3S9D pdb_description: 31-Aug-11 X-ray 2.000 Binary complex between ifna2 and ifnar2 295 2LAG pdb_description: 17-Aug-11 NMR 10 Structure of the 44 kda complex of interferon-alpha2 with th extracellular part of ifnar2 obtained by 2d-double differen 295 2KZ1 pdb_description: 23-Jun-10 NMR 10 Inter-molecular interactions in a 44 kda interferon-receptor detected by asymmetric back-protonation and 2d noesy 295 2HYM pdb_description: 10-Oct-06 NMR 10 Nmr based docking model of the complex between the human type i interferon receptor and human interferon alpha-2 295 Zimmer Variants: 295 chr21:34614250:T:C 996_23_8_F->S 295 chr21:34614255:T:G 996_28_10_F->V 295 chr21:34634878:G:A 996_853_285_A->T;HUB=PPI;GNEG=Yes;GENE=IFNAR2;CDSS=3 295 HGMD Variants: 295 chr21:34614250:T:C 996_23_8_F->S 295 chr21:34614255:T:G 996_28_10_F->V 295 chr21:34625012:A:C 996_586_196_I->L 295 oneKG Variants: 295 chr21:34634991:C:A 996_966_322_Y->* 0.00698882 295 chr21:34614250:T:C 996_23_8_F->S 0.11861 295 chr21:34614255:T:G 996_28_10_F->V 0.391773 295 chr21:34614259:G:C 996_32_11_R->T 0.000199681 295 chr21:34615987:G:T 996_65_22_S->I 0.000399361 295 chr21:34615992:G:A 996_70_24_V->M 0.000199681 295 chr21:34617267:G:C 996_109_37_E->Q 0.000199681 295 chr21:34617280:T:C 996_122_41_F->S 0.000199681 295 chr21:34619126:G:A 996_325_109_V->I 0.000199681 295 chr21:34621047:G:A 996_428_143_G->D 0.000199681 295 chr21:34621122:T:G 996_503_168_L->R 0.000199681 295 chr21:34621124:G:A 996_505_169_V->I 0.000798722 295 chr21:34621138:G:T 996_519_173_Q->H 0.000599042 295 chr21:34624976:G:A 996_550_184_E->K 0.000199681 295 chr21:34625012:A:G 996_586_196_I->V 0.000599042 295 chr21:34625019:A:G 996_593_198_D->G 0.000199681 295 chr21:34625021:A:G 996_595_199_K->E 0.000199681 295 chr21:34625037:C:G 996_611_204_T->R 0.00479233 295 chr21:34625114:C:T 996_688_230_L->F 0.000199681 295 chr21:34632925:G:C 996_733_245_G->R 0.000199681 295 chr21:34632998:A:G 996_806_269_Y->C 0.000199681 295 chr21:34633004:G:A 996_812_271_C->Y 0.00599042 295 chr21:34634878:G:A 996_853_285_A->T 0.435304 295 chr21:34634887:T:C 996_862_288_W->R 0.000199681 295 chr21:34634909:G:A 996_884_295_R->K 0.000199681 295 chr21:34634995:C:T 996_970_324_R->C 0.000199681 295 na12878 Variants: 295 chr21:34614250:T:C 996_23_8_F->S 295 chr21:34614255:T:G 996_28_10_F->V 295 chr21:34634878:G:A 996_853_285_A->T 295 snyder Variants: 295 chr21:34614255:T:G 996_28_10_F->V 295 chr21:34634878:G:A 996_853_285_A->T 296 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159110_ENST00000342136 gene_Name: INAR2_HUMAN 296 list of pdbs: 296 3S8W pdb_description: 31-Aug-11 X-ray 2.600 D2 domain of human ifnar2 296 1N6V pdb_description: 15-Jul-03 NMR 1 Average structure of the interferon-binding ectodomain of the human type i interferon receptor 296 1N6U pdb_description: 15-Jul-03 NMR 22 Nmr structure of the interferon-binding ectodomain of the human interferon receptor 296 3SE4 pdb_description: 31-Aug-11 X-ray 3.500 Human ifnw-ifnar ternary complex 296 3SE3 pdb_description: 31-Aug-11 X-ray 4.000 Human ifna2-ifnar ternary complex 296 3S9D pdb_description: 31-Aug-11 X-ray 2.000 Binary complex between ifna2 and ifnar2 296 2LAG pdb_description: 17-Aug-11 NMR 10 Structure of the 44 kda complex of interferon-alpha2 with th extracellular part of ifnar2 obtained by 2d-double differen 296 2KZ1 pdb_description: 23-Jun-10 NMR 10 Inter-molecular interactions in a 44 kda interferon-receptor detected by asymmetric back-protonation and 2d noesy 296 2HYM pdb_description: 10-Oct-06 NMR 10 Nmr based docking model of the complex between the human type i interferon receptor and human interferon alpha-2 296 Zimmer Variants: 296 chr21:34614250:T:C 1548_23_8_F->S 296 chr21:34614255:T:G 1548_28_10_F->V 296 HGMD Variants: 296 chr21:34614250:T:C 1548_23_8_F->S 296 chr21:34614255:T:G 1548_28_10_F->V 296 chr21:34625012:A:C 1548_586_196_I->L 296 oneKG Variants: 296 chr21:34614250:T:C 1548_23_8_F->S 0.11861 296 chr21:34614255:T:G 1548_28_10_F->V 0.391773 296 chr21:34614259:G:C 1548_32_11_R->T 0.000199681 296 chr21:34615987:G:T 1548_65_22_S->I 0.000399361 296 chr21:34615992:G:A 1548_70_24_V->M 0.000199681 296 chr21:34617267:G:C 1548_109_37_E->Q 0.000199681 296 chr21:34617280:T:C 1548_122_41_F->S 0.000199681 296 chr21:34619126:G:A 1548_325_109_V->I 0.000199681 296 chr21:34621047:G:A 1548_428_143_G->D 0.000199681 296 chr21:34621122:T:G 1548_503_168_L->R 0.000199681 296 chr21:34621124:G:A 1548_505_169_V->I 0.000798722 296 chr21:34621138:G:T 1548_519_173_Q->H 0.000599042 296 chr21:34624976:G:A 1548_550_184_E->K 0.000199681 296 chr21:34625012:A:G 1548_586_196_I->V 0.000599042 296 chr21:34625019:A:G 1548_593_198_D->G 0.000199681 296 chr21:34625021:A:G 1548_595_199_K->E 0.000199681 296 chr21:34625037:C:G 1548_611_204_T->R 0.00479233 296 chr21:34625114:C:T 1548_688_230_L->F 0.000199681 296 chr21:34632925:G:C 1548_733_245_G->R 0.000199681 296 chr21:34632998:A:G 1548_806_269_Y->C 0.000199681 296 chr21:34633004:G:A 1548_812_271_C->Y 0.00599042 296 chr21:34635116:G:A 1548_859_287_A->T 0.000199681 296 chr21:34635183:G:A 1548_926_309_R->K 0.000399361 296 chr21:34635273:T:C 1548_1016_339_M->T 0.000199681 296 chr21:34635275:C:G 1548_1018_340_H->D 0.000199681 296 chr21:34635318:C:G 1548_1061_354_S->C 0.000199681 296 chr21:34635363:A:T 1548_1106_369_D->V 0.000199681 296 chr21:34635364:C:A 1548_1107_369_D->E 0.000199681 296 chr21:34635380:G:A 1548_1123_375_V->M 0.000199681 296 chr21:34635390:C:T 1548_1133_378_P->L 0.000199681 296 chr21:34635433:T:A 1548_1176_392_S->R 0.00119808 296 chr21:34635589:A:T 1548_1332_444_E->D 0.000199681 296 chr21:34635611:C:T 1548_1354_452_H->Y 0.000599042 296 chr21:34635750:A:G 1548_1493_498_Q->R 0.000199681 296 na12878 Variants: 296 chr21:34614250:T:C 1548_23_8_F->S 296 chr21:34614255:T:G 1548_28_10_F->V 296 snyder Variants: 296 chr21:34614255:T:G 1548_28_10_F->V 297 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159110_ENST00000342101 gene_Name: INAR2_HUMAN 297 list of pdbs: 297 3S8W pdb_description: 31-Aug-11 X-ray 2.600 D2 domain of human ifnar2 297 1N6V pdb_description: 15-Jul-03 NMR 1 Average structure of the interferon-binding ectodomain of the human type i interferon receptor 297 1N6U pdb_description: 15-Jul-03 NMR 22 Nmr structure of the interferon-binding ectodomain of the human interferon receptor 297 3SE4 pdb_description: 31-Aug-11 X-ray 3.500 Human ifnw-ifnar ternary complex 297 3SE3 pdb_description: 31-Aug-11 X-ray 4.000 Human ifna2-ifnar ternary complex 297 3S9D pdb_description: 31-Aug-11 X-ray 2.000 Binary complex between ifna2 and ifnar2 297 2LAG pdb_description: 17-Aug-11 NMR 10 Structure of the 44 kda complex of interferon-alpha2 with th extracellular part of ifnar2 obtained by 2d-double differen 297 2KZ1 pdb_description: 23-Jun-10 NMR 10 Inter-molecular interactions in a 44 kda interferon-receptor detected by asymmetric back-protonation and 2d noesy 297 2HYM pdb_description: 10-Oct-06 NMR 10 Nmr based docking model of the complex between the human type i interferon receptor and human interferon alpha-2 297 Zimmer Variants: 297 chr21:34614250:T:C 720_23_8_F->S 297 chr21:34614255:T:G 720_28_10_F->V 297 HGMD Variants: 297 chr21:34614250:T:C 720_23_8_F->S 297 chr21:34614255:T:G 720_28_10_F->V 297 chr21:34625012:A:C 720_586_196_I->L 297 oneKG Variants: 297 chr21:34614250:T:C 720_23_8_F->S 0.11861 297 chr21:34614255:T:G 720_28_10_F->V 0.391773 297 chr21:34614259:G:C 720_32_11_R->T 0.000199681 297 chr21:34615987:G:T 720_65_22_S->I 0.000399361 297 chr21:34615992:G:A 720_70_24_V->M 0.000199681 297 chr21:34617267:G:C 720_109_37_E->Q 0.000199681 297 chr21:34617280:T:C 720_122_41_F->S 0.000199681 297 chr21:34619126:G:A 720_325_109_V->I 0.000199681 297 chr21:34621047:G:A 720_428_143_G->D 0.000199681 297 chr21:34621122:T:G 720_503_168_L->R 0.000199681 297 chr21:34621124:G:A 720_505_169_V->I 0.000798722 297 chr21:34621138:G:T 720_519_173_Q->H 0.000599042 297 chr21:34624976:G:A 720_550_184_E->K 0.000199681 297 chr21:34625012:A:G 720_586_196_I->V 0.000599042 297 chr21:34625019:A:G 720_593_198_D->G 0.000199681 297 chr21:34625021:A:G 720_595_199_K->E 0.000199681 297 chr21:34625037:C:G 720_611_204_T->R 0.00479233 297 chr21:34625114:C:T 720_688_230_L->F 0.000199681 297 na12878 Variants: 297 chr21:34614250:T:C 720_23_8_F->S 297 chr21:34614255:T:G 720_28_10_F->V 297 snyder Variants: 297 chr21:34614255:T:G 720_28_10_F->V 298 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160255_ENST00000397852 gene_Name: ITB2_HUMAN 298 list of pdbs: 298 2V7D pdb_description: 24-Jun-08 X-ray 2.500 14-3-3 protein zeta in complex with thr758 phosphorylated integrin beta2 peptide 298 2P28 pdb_description: 14-Aug-07 X-ray 2.200 Structure of the phe2 and phe3 fragments of the integrin bet 298 2P26 pdb_description: 14-Aug-07 X-ray 1.750 Structure of the phe2 and phe3 fragments of the integrin bet 298 1YUK pdb_description: 19-Jul-05 X-ray 1.800 The crystal structure of the psi/hybrid domain/ i-egf1 segment from the human integrin beta2 at 1.8 resolution 298 1L3Y pdb_description: 01-Apr-02 NMR 15 Integrin egf-like module 3 from the beta-2 subunit 298 1JX3 pdb_description: 19-Sep-01 Theoret model Theoretical model of the integrin beta2 i-like domain 298 3K72 pdb_description: 12-Jan-10 X-ray 3.700 Structure of integrin alphax beta2 298 3K71 pdb_description: 12-Jan-10 X-ray 3.950 Structure of integrin alphax beta2 ectodomain 298 3K6S pdb_description: 12-Jan-10 X-ray 3.500 Structure of integrin alphaxbeta2 ectodomain 298 2JF1 pdb_description: 05-Feb-08 X-ray 2.200 Crystal structure of the filamin a repeat 21 complexed with the integrin beta2 cytoplasmic tail peptide 298 Zimmer Variants: 298 chr21:46314907:T:A 2310_1062_354_Q->H 298 HGMD Variants: 298 chr21:46306698:C:A 2310_2200_734_E->* 298 chr21:46308611:G:A 2310_2077_693_R->* 298 chr21:46308800:C:A 2310_1888_630_E->* 298 chr21:46309918:G:C 2310_1632_544_Y->* 298 chr21:46309948:G:T 2310_1602_534_C->* 298 chr21:46309960:G:C 2310_1590_530_Y->* 298 chr21:46311872:G:A 2310_1264_422_Q->* 298 chr21:46320377:C:T 2310_755_252_W->* 298 chr21:46321490:C:A 2310_658_220_E->* 298 chr21:46321586:G:A 2310_562_188_R->* 298 chr21:46326836:G:A 2310_322_108_R->* 298 chr21:46326959:G:A 2310_199_67_Q->* 298 chr21:46326972:G:T 2310_186_62_C->* 298 chr21:46330267:T:A 2310_79_27_K->* 298 chr21:46306751:C:G 2310_2147_716_G->A 298 chr21:46306752:C:G 2310_2146_716_G->R 298 chr21:46308745:G:A 2310_1943_648_P->L 298 chr21:46309234:A:G 2310_1834_612_C->R 298 chr21:46309291:G:A 2310_1777_593_R->C 298 chr21:46309300:A:G 2310_1768_590_C->R 298 chr21:46309312:G:A 2310_1756_586_R->W 298 chr21:46309398:C:G 2310_1670_557_C->S 298 chr21:46311778:C:T 2310_1358_453_S->N 298 chr21:46314917:T:C 2310_1052_351_N->S 298 chr21:46314948:C:G 2310_1021_341_A->P 298 chr21:46319013:G:T 2310_962_321_A->E 298 chr21:46319070:G:A 2310_905_302_P->L 298 chr21:46319076:T:A 2310_899_300_D->V 298 chr21:46320282:C:T 2310_850_284_G->S 298 chr21:46320286:G:T 2310_846_282_N->K 298 chr21:46320315:C:T 2310_817_273_G->R 298 chr21:46320323:G:A 2310_809_270_A->V 298 chr21:46320363:G:A 2310_769_257_R->W 298 chr21:46320378:A:G 2310_754_252_W->R 298 chr21:46321433:C:T 2310_715_239_A->T 298 chr21:46321436:C:T 2310_712_238_D->N 298 chr21:46321457:C:G 2310_691_231_D->H 298 chr21:46321561:T:G 2310_587_196_K->T 298 chr21:46321615:G:A 2310_533_178_P->L 298 chr21:46321628:T:C 2310_520_174_K->E 298 chr21:46321643:C:T 2310_505_169_G->R 298 chr21:46323330:C:T 2310_449_150_G->D 298 chr21:46323333:A:G 2310_446_149_L->P 298 chr21:46323367:A:G 2310_412_138_S->P 298 chr21:46323379:C:T 2310_400_134_D->N 298 chr21:46323387:T:G 2310_392_131_Y->S 298 chr21:46323397:C:T 2310_382_128_D->N 298 chr21:46323397:C:A 2310_382_128_D->Y 298 chr21:46326844:A:G 2310_314_105_L->P 298 chr21:46326929:C:T 2310_229_77_D->N 298 chr21:46326974:A:G 2310_184_62_C->R 298 chr21:46330216:T:G 2310_130_44_T->P 298 chr21:46330240:A:T 2310_106_36_C->S 298 chr21:46330696:A:T 2310_2_1_M->K 298 oneKG Variants: 298 chr21:46330267:T:A 2310_79_27_K->* 0.000199681 298 chr21:46306314:G:A 2310_2279_760_T->M 0.000199681 298 chr21:46306329:T:C 2310_2264_755_K->R 0.000199681 298 chr21:46306689:G:A 2310_2209_737_R->C 0.000399361 298 chr21:46306709:C:T 2310_2189_730_S->N 0.00179712 298 chr21:46306715:T:C 2310_2183_728_H->R 0.000199681 298 chr21:46306794:C:T 2310_2104_702_A->T 0.000399361 298 chr21:46308610:C:T 2310_2078_693_R->Q 0.000199681 298 chr21:46308638:G:A 2310_2050_684_R->C 0.000599042 298 chr21:46308684:C:G 2310_2004_668_E->D 0.000199681 298 chr21:46308719:C:T 2310_1969_657_V->M 0.000199681 298 chr21:46308751:G:A 2310_1937_646_A->V 0.000199681 298 chr21:46308754:G:A 2310_1934_645_A->V 0.000599042 298 chr21:46308755:C:A 2310_1933_645_A->S 0.000399361 298 chr21:46308800:C:T 2310_1888_630_E->K 0.000798722 298 chr21:46308803:C:T 2310_1885_629_A->T 0.000399361 298 chr21:46309309:G:A 2310_1759_587_R->C 0.000399361 298 chr21:46309312:G:A 2310_1756_586_R->W 0.00239617 298 chr21:46309342:C:T 2310_1726_576_E->K 0.000199681 298 chr21:46309371:G:A 2310_1697_566_P->L 0.000399361 298 chr21:46309380:C:T 2310_1688_563_R->H 0.000399361 298 chr21:46309920:A:G 2310_1630_544_Y->H 0.000399361 298 chr21:46309931:T:C 2310_1619_540_N->S 0.000199681 298 chr21:46309983:C:T 2310_1567_523_D->N 0.000399361 298 chr21:46310007:C:T 2310_1543_515_G->R 0.000199681 298 chr21:46310057:C:T 2310_1493_498_R->Q 0.000199681 298 chr21:46311816:C:G 2310_1320_440_Q->H 0.000399361 298 chr21:46311821:C:T 2310_1315_439_V->M 0.000199681 298 chr21:46313371:G:A 2310_1172_391_T->M 0.00179712 298 chr21:46314907:T:A 2310_1062_354_Q->H 0.0 298 chr21:46319005:T:G 2310_970_324_S->R 0.000199681 298 chr21:46319014:C:T 2310_961_321_A->T 0.000199681 298 chr21:46319020:T:C 2310_955_319_I->V 0.000199681 298 chr21:46319057:C:G 2310_918_306_Q->H 0.000199681 298 chr21:46320279:G:A 2310_853_285_R->C 0.000199681 298 chr21:46320324:C:T 2310_808_270_A->T 0.000798722 298 chr21:46320327:A:G 2310_805_269_F->L 0.000599042 298 chr21:46320374:C:T 2310_758_253_R->H 0.000399361 298 chr21:46321415:C:T 2310_733_245_A->T 0.000199681 298 chr21:46321598:G:A 2310_550_184_P->S 0.000199681 298 chr21:46321603:G:A 2310_545_182_T->M 0.000199681 298 chr21:46321610:C:T 2310_538_180_V->M 0.000199681 298 chr21:46323295:C:T 2310_484_162_E->K 0.000199681 298 chr21:46323421:G:A 2310_358_120_R->W 0.00119808 298 chr21:46323442:C:T 2310_337_113_A->T 0.000199681 298 chr21:46326835:C:T 2310_323_108_R->Q 0.000199681 298 chr21:46326844:A:G 2310_314_105_L->P 0.000199681 298 chr21:46326847:G:A 2310_311_104_T->M 0.00119808 298 chr21:46326905:C:T 2310_253_85_A->T 0.000199681 298 chr21:46326929:C:T 2310_229_77_D->N 0.00299521 298 chr21:46326932:C:T 2310_226_76_D->N 0.000199681 298 chr21:46326937:G:A 2310_221_74_A->V 0.000199681 298 chr21:46326998:G:T 2310_160_54_P->T 0.000199681 298 chr21:46327010:T:A 2310_148_50_N->Y 0.000199681 298 chr21:46330222:C:A 2310_124_42_G->C 0.000199681 298 chr21:46330254:C:T 2310_92_31_S->N 0.000399361 298 chr21:46330266:T:C 2310_80_27_K->R 0.000199681 298 chr21:46330269:G:C 2310_77_26_T->R 0.000199681 298 chr21:46330281:G:C 2310_65_22_S->C 0.000199681 298 chr21:46330670:C:T 2310_28_10_A->T 0.0147764 298 chr21:46330685:G:A 2310_13_5_R->C 0.000998403 298 na12878 Variants: 298 chr21:46314907:T:A 2310_1062_354_Q->H 298 snyder Variants: 298 chr21:46314907:T:A 2310_1062_354_Q->H 299 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160255_ENST00000397857 gene_Name: ITB2_HUMAN 299 list of pdbs: 299 2V7D pdb_description: 24-Jun-08 X-ray 2.500 14-3-3 protein zeta in complex with thr758 phosphorylated integrin beta2 peptide 299 2P28 pdb_description: 14-Aug-07 X-ray 2.200 Structure of the phe2 and phe3 fragments of the integrin bet 299 2P26 pdb_description: 14-Aug-07 X-ray 1.750 Structure of the phe2 and phe3 fragments of the integrin bet 299 1YUK pdb_description: 19-Jul-05 X-ray 1.800 The crystal structure of the psi/hybrid domain/ i-egf1 segment from the human integrin beta2 at 1.8 resolution 299 1L3Y pdb_description: 01-Apr-02 NMR 15 Integrin egf-like module 3 from the beta-2 subunit 299 1JX3 pdb_description: 19-Sep-01 Theoret model Theoretical model of the integrin beta2 i-like domain 299 3K72 pdb_description: 12-Jan-10 X-ray 3.700 Structure of integrin alphax beta2 299 3K71 pdb_description: 12-Jan-10 X-ray 3.950 Structure of integrin alphax beta2 ectodomain 299 3K6S pdb_description: 12-Jan-10 X-ray 3.500 Structure of integrin alphaxbeta2 ectodomain 299 2JF1 pdb_description: 05-Feb-08 X-ray 2.200 Crystal structure of the filamin a repeat 21 complexed with the integrin beta2 cytoplasmic tail peptide 299 Zimmer Variants: 299 chr21:46314907:T:A 2310_1062_354_Q->H;HUB=PPI;GNEG=Yes;GENE=ITGB2;CDSS=3 299 HGMD Variants: 299 chr21:46306698:C:A 2310_2200_734_E->* 299 chr21:46308611:G:A 2310_2077_693_R->* 299 chr21:46308800:C:A 2310_1888_630_E->* 299 chr21:46309918:G:C 2310_1632_544_Y->* 299 chr21:46309948:G:T 2310_1602_534_C->* 299 chr21:46309960:G:C 2310_1590_530_Y->* 299 chr21:46311872:G:A 2310_1264_422_Q->* 299 chr21:46320377:C:T 2310_755_252_W->* 299 chr21:46321490:C:A 2310_658_220_E->* 299 chr21:46321586:G:A 2310_562_188_R->* 299 chr21:46326836:G:A 2310_322_108_R->* 299 chr21:46326959:G:A 2310_199_67_Q->* 299 chr21:46326972:G:T 2310_186_62_C->* 299 chr21:46330267:T:A 2310_79_27_K->* 299 chr21:46306751:C:G 2310_2147_716_G->A 299 chr21:46306752:C:G 2310_2146_716_G->R 299 chr21:46308745:G:A 2310_1943_648_P->L 299 chr21:46309234:A:G 2310_1834_612_C->R 299 chr21:46309291:G:A 2310_1777_593_R->C 299 chr21:46309300:A:G 2310_1768_590_C->R 299 chr21:46309312:G:A 2310_1756_586_R->W 299 chr21:46309398:C:G 2310_1670_557_C->S 299 chr21:46311778:C:T 2310_1358_453_S->N 299 chr21:46314917:T:C 2310_1052_351_N->S 299 chr21:46314948:C:G 2310_1021_341_A->P 299 chr21:46319013:G:T 2310_962_321_A->E 299 chr21:46319070:G:A 2310_905_302_P->L 299 chr21:46319076:T:A 2310_899_300_D->V 299 chr21:46320282:C:T 2310_850_284_G->S 299 chr21:46320286:G:T 2310_846_282_N->K 299 chr21:46320315:C:T 2310_817_273_G->R 299 chr21:46320323:G:A 2310_809_270_A->V 299 chr21:46320363:G:A 2310_769_257_R->W 299 chr21:46320378:A:G 2310_754_252_W->R 299 chr21:46321433:C:T 2310_715_239_A->T 299 chr21:46321436:C:T 2310_712_238_D->N 299 chr21:46321457:C:G 2310_691_231_D->H 299 chr21:46321561:T:G 2310_587_196_K->T 299 chr21:46321615:G:A 2310_533_178_P->L 299 chr21:46321628:T:C 2310_520_174_K->E 299 chr21:46321643:C:T 2310_505_169_G->R 299 chr21:46323330:C:T 2310_449_150_G->D 299 chr21:46323333:A:G 2310_446_149_L->P 299 chr21:46323367:A:G 2310_412_138_S->P 299 chr21:46323379:C:T 2310_400_134_D->N 299 chr21:46323387:T:G 2310_392_131_Y->S 299 chr21:46323397:C:T 2310_382_128_D->N 299 chr21:46323397:C:A 2310_382_128_D->Y 299 chr21:46326844:A:G 2310_314_105_L->P 299 chr21:46326929:C:T 2310_229_77_D->N 299 chr21:46326974:A:G 2310_184_62_C->R 299 chr21:46330216:T:G 2310_130_44_T->P 299 chr21:46330240:A:T 2310_106_36_C->S 299 chr21:46330696:A:T 2310_2_1_M->K 299 oneKG Variants: 299 chr21:46330267:T:A 2310_79_27_K->* 0.000199681 299 chr21:46306314:G:A 2310_2279_760_T->M 0.000199681 299 chr21:46306329:T:C 2310_2264_755_K->R 0.000199681 299 chr21:46306689:G:A 2310_2209_737_R->C 0.000399361 299 chr21:46306709:C:T 2310_2189_730_S->N 0.00179712 299 chr21:46306715:T:C 2310_2183_728_H->R 0.000199681 299 chr21:46306794:C:T 2310_2104_702_A->T 0.000399361 299 chr21:46308610:C:T 2310_2078_693_R->Q 0.000199681 299 chr21:46308638:G:A 2310_2050_684_R->C 0.000599042 299 chr21:46308684:C:G 2310_2004_668_E->D 0.000199681 299 chr21:46308719:C:T 2310_1969_657_V->M 0.000199681 299 chr21:46308751:G:A 2310_1937_646_A->V 0.000199681 299 chr21:46308754:G:A 2310_1934_645_A->V 0.000599042 299 chr21:46308755:C:A 2310_1933_645_A->S 0.000399361 299 chr21:46308800:C:T 2310_1888_630_E->K 0.000798722 299 chr21:46308803:C:T 2310_1885_629_A->T 0.000399361 299 chr21:46309309:G:A 2310_1759_587_R->C 0.000399361 299 chr21:46309312:G:A 2310_1756_586_R->W 0.00239617 299 chr21:46309342:C:T 2310_1726_576_E->K 0.000199681 299 chr21:46309371:G:A 2310_1697_566_P->L 0.000399361 299 chr21:46309380:C:T 2310_1688_563_R->H 0.000399361 299 chr21:46309920:A:G 2310_1630_544_Y->H 0.000399361 299 chr21:46309931:T:C 2310_1619_540_N->S 0.000199681 299 chr21:46309983:C:T 2310_1567_523_D->N 0.000399361 299 chr21:46310007:C:T 2310_1543_515_G->R 0.000199681 299 chr21:46310057:C:T 2310_1493_498_R->Q 0.000199681 299 chr21:46311816:C:G 2310_1320_440_Q->H 0.000399361 299 chr21:46311821:C:T 2310_1315_439_V->M 0.000199681 299 chr21:46313371:G:A 2310_1172_391_T->M 0.00179712 299 chr21:46314907:T:A 2310_1062_354_Q->H 0.0 299 chr21:46319005:T:G 2310_970_324_S->R 0.000199681 299 chr21:46319014:C:T 2310_961_321_A->T 0.000199681 299 chr21:46319020:T:C 2310_955_319_I->V 0.000199681 299 chr21:46319057:C:G 2310_918_306_Q->H 0.000199681 299 chr21:46320279:G:A 2310_853_285_R->C 0.000199681 299 chr21:46320324:C:T 2310_808_270_A->T 0.000798722 299 chr21:46320327:A:G 2310_805_269_F->L 0.000599042 299 chr21:46320374:C:T 2310_758_253_R->H 0.000399361 299 chr21:46321415:C:T 2310_733_245_A->T 0.000199681 299 chr21:46321598:G:A 2310_550_184_P->S 0.000199681 299 chr21:46321603:G:A 2310_545_182_T->M 0.000199681 299 chr21:46321610:C:T 2310_538_180_V->M 0.000199681 299 chr21:46323295:C:T 2310_484_162_E->K 0.000199681 299 chr21:46323421:G:A 2310_358_120_R->W 0.00119808 299 chr21:46323442:C:T 2310_337_113_A->T 0.000199681 299 chr21:46326835:C:T 2310_323_108_R->Q 0.000199681 299 chr21:46326844:A:G 2310_314_105_L->P 0.000199681 299 chr21:46326847:G:A 2310_311_104_T->M 0.00119808 299 chr21:46326905:C:T 2310_253_85_A->T 0.000199681 299 chr21:46326929:C:T 2310_229_77_D->N 0.00299521 299 chr21:46326932:C:T 2310_226_76_D->N 0.000199681 299 chr21:46326937:G:A 2310_221_74_A->V 0.000199681 299 chr21:46326998:G:T 2310_160_54_P->T 0.000199681 299 chr21:46327010:T:A 2310_148_50_N->Y 0.000199681 299 chr21:46330222:C:A 2310_124_42_G->C 0.000199681 299 chr21:46330254:C:T 2310_92_31_S->N 0.000399361 299 chr21:46330266:T:C 2310_80_27_K->R 0.000199681 299 chr21:46330269:G:C 2310_77_26_T->R 0.000199681 299 chr21:46330281:G:C 2310_65_22_S->C 0.000199681 299 chr21:46330670:C:T 2310_28_10_A->T 0.0147764 299 chr21:46330685:G:A 2310_13_5_R->C 0.000998403 299 na12878 Variants: 299 chr21:46314907:T:A 2310_1062_354_Q->H 299 snyder Variants: 299 chr21:46314907:T:A 2310_1062_354_Q->H 300 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160255_ENST00000355153 gene_Name: ITB2_HUMAN 300 list of pdbs: 300 2V7D pdb_description: 24-Jun-08 X-ray 2.500 14-3-3 protein zeta in complex with thr758 phosphorylated integrin beta2 peptide 300 2P28 pdb_description: 14-Aug-07 X-ray 2.200 Structure of the phe2 and phe3 fragments of the integrin bet 300 2P26 pdb_description: 14-Aug-07 X-ray 1.750 Structure of the phe2 and phe3 fragments of the integrin bet 300 1YUK pdb_description: 19-Jul-05 X-ray 1.800 The crystal structure of the psi/hybrid domain/ i-egf1 segment from the human integrin beta2 at 1.8 resolution 300 1L3Y pdb_description: 01-Apr-02 NMR 15 Integrin egf-like module 3 from the beta-2 subunit 300 1JX3 pdb_description: 19-Sep-01 Theoret model Theoretical model of the integrin beta2 i-like domain 300 3K72 pdb_description: 12-Jan-10 X-ray 3.700 Structure of integrin alphax beta2 300 3K71 pdb_description: 12-Jan-10 X-ray 3.950 Structure of integrin alphax beta2 ectodomain 300 3K6S pdb_description: 12-Jan-10 X-ray 3.500 Structure of integrin alphaxbeta2 ectodomain 300 2JF1 pdb_description: 05-Feb-08 X-ray 2.200 Crystal structure of the filamin a repeat 21 complexed with the integrin beta2 cytoplasmic tail peptide 300 Zimmer Variants: 300 chr21:46314907:T:A 2310_1062_354_Q->H 300 HGMD Variants: 300 chr21:46306698:C:A 2310_2200_734_E->* 300 chr21:46308611:G:A 2310_2077_693_R->* 300 chr21:46308800:C:A 2310_1888_630_E->* 300 chr21:46309918:G:C 2310_1632_544_Y->* 300 chr21:46309948:G:T 2310_1602_534_C->* 300 chr21:46309960:G:C 2310_1590_530_Y->* 300 chr21:46311872:G:A 2310_1264_422_Q->* 300 chr21:46320377:C:T 2310_755_252_W->* 300 chr21:46321490:C:A 2310_658_220_E->* 300 chr21:46321586:G:A 2310_562_188_R->* 300 chr21:46326836:G:A 2310_322_108_R->* 300 chr21:46326959:G:A 2310_199_67_Q->* 300 chr21:46326972:G:T 2310_186_62_C->* 300 chr21:46330267:T:A 2310_79_27_K->* 300 chr21:46306751:C:G 2310_2147_716_G->A 300 chr21:46306752:C:G 2310_2146_716_G->R 300 chr21:46308745:G:A 2310_1943_648_P->L 300 chr21:46309234:A:G 2310_1834_612_C->R 300 chr21:46309291:G:A 2310_1777_593_R->C 300 chr21:46309300:A:G 2310_1768_590_C->R 300 chr21:46309312:G:A 2310_1756_586_R->W 300 chr21:46309398:C:G 2310_1670_557_C->S 300 chr21:46311778:C:T 2310_1358_453_S->N 300 chr21:46314917:T:C 2310_1052_351_N->S 300 chr21:46314948:C:G 2310_1021_341_A->P 300 chr21:46319013:G:T 2310_962_321_A->E 300 chr21:46319070:G:A 2310_905_302_P->L 300 chr21:46319076:T:A 2310_899_300_D->V 300 chr21:46320282:C:T 2310_850_284_G->S 300 chr21:46320286:G:T 2310_846_282_N->K 300 chr21:46320315:C:T 2310_817_273_G->R 300 chr21:46320323:G:A 2310_809_270_A->V 300 chr21:46320363:G:A 2310_769_257_R->W 300 chr21:46320378:A:G 2310_754_252_W->R 300 chr21:46321433:C:T 2310_715_239_A->T 300 chr21:46321436:C:T 2310_712_238_D->N 300 chr21:46321457:C:G 2310_691_231_D->H 300 chr21:46321561:T:G 2310_587_196_K->T 300 chr21:46321615:G:A 2310_533_178_P->L 300 chr21:46321628:T:C 2310_520_174_K->E 300 chr21:46321643:C:T 2310_505_169_G->R 300 chr21:46323330:C:T 2310_449_150_G->D 300 chr21:46323333:A:G 2310_446_149_L->P 300 chr21:46323367:A:G 2310_412_138_S->P 300 chr21:46323379:C:T 2310_400_134_D->N 300 chr21:46323387:T:G 2310_392_131_Y->S 300 chr21:46323397:C:T 2310_382_128_D->N 300 chr21:46323397:C:A 2310_382_128_D->Y 300 chr21:46326844:A:G 2310_314_105_L->P 300 chr21:46326929:C:T 2310_229_77_D->N 300 chr21:46326974:A:G 2310_184_62_C->R 300 chr21:46330216:T:G 2310_130_44_T->P 300 chr21:46330240:A:T 2310_106_36_C->S 300 chr21:46330696:A:T 2310_2_1_M->K 300 oneKG Variants: 300 chr21:46330267:T:A 2310_79_27_K->* 0.000199681 300 chr21:46306314:G:A 2310_2279_760_T->M 0.000199681 300 chr21:46306329:T:C 2310_2264_755_K->R 0.000199681 300 chr21:46306689:G:A 2310_2209_737_R->C 0.000399361 300 chr21:46306709:C:T 2310_2189_730_S->N 0.00179712 300 chr21:46306715:T:C 2310_2183_728_H->R 0.000199681 300 chr21:46306794:C:T 2310_2104_702_A->T 0.000399361 300 chr21:46308610:C:T 2310_2078_693_R->Q 0.000199681 300 chr21:46308638:G:A 2310_2050_684_R->C 0.000599042 300 chr21:46308684:C:G 2310_2004_668_E->D 0.000199681 300 chr21:46308719:C:T 2310_1969_657_V->M 0.000199681 300 chr21:46308751:G:A 2310_1937_646_A->V 0.000199681 300 chr21:46308754:G:A 2310_1934_645_A->V 0.000599042 300 chr21:46308755:C:A 2310_1933_645_A->S 0.000399361 300 chr21:46308800:C:T 2310_1888_630_E->K 0.000798722 300 chr21:46308803:C:T 2310_1885_629_A->T 0.000399361 300 chr21:46309309:G:A 2310_1759_587_R->C 0.000399361 300 chr21:46309312:G:A 2310_1756_586_R->W 0.00239617 300 chr21:46309342:C:T 2310_1726_576_E->K 0.000199681 300 chr21:46309371:G:A 2310_1697_566_P->L 0.000399361 300 chr21:46309380:C:T 2310_1688_563_R->H 0.000399361 300 chr21:46309920:A:G 2310_1630_544_Y->H 0.000399361 300 chr21:46309931:T:C 2310_1619_540_N->S 0.000199681 300 chr21:46309983:C:T 2310_1567_523_D->N 0.000399361 300 chr21:46310007:C:T 2310_1543_515_G->R 0.000199681 300 chr21:46310057:C:T 2310_1493_498_R->Q 0.000199681 300 chr21:46311816:C:G 2310_1320_440_Q->H 0.000399361 300 chr21:46311821:C:T 2310_1315_439_V->M 0.000199681 300 chr21:46313371:G:A 2310_1172_391_T->M 0.00179712 300 chr21:46314907:T:A 2310_1062_354_Q->H 0.0 300 chr21:46319005:T:G 2310_970_324_S->R 0.000199681 300 chr21:46319014:C:T 2310_961_321_A->T 0.000199681 300 chr21:46319020:T:C 2310_955_319_I->V 0.000199681 300 chr21:46319057:C:G 2310_918_306_Q->H 0.000199681 300 chr21:46320279:G:A 2310_853_285_R->C 0.000199681 300 chr21:46320324:C:T 2310_808_270_A->T 0.000798722 300 chr21:46320327:A:G 2310_805_269_F->L 0.000599042 300 chr21:46320374:C:T 2310_758_253_R->H 0.000399361 300 chr21:46321415:C:T 2310_733_245_A->T 0.000199681 300 chr21:46321598:G:A 2310_550_184_P->S 0.000199681 300 chr21:46321603:G:A 2310_545_182_T->M 0.000199681 300 chr21:46321610:C:T 2310_538_180_V->M 0.000199681 300 chr21:46323295:C:T 2310_484_162_E->K 0.000199681 300 chr21:46323421:G:A 2310_358_120_R->W 0.00119808 300 chr21:46323442:C:T 2310_337_113_A->T 0.000199681 300 chr21:46326835:C:T 2310_323_108_R->Q 0.000199681 300 chr21:46326844:A:G 2310_314_105_L->P 0.000199681 300 chr21:46326847:G:A 2310_311_104_T->M 0.00119808 300 chr21:46326905:C:T 2310_253_85_A->T 0.000199681 300 chr21:46326929:C:T 2310_229_77_D->N 0.00299521 300 chr21:46326932:C:T 2310_226_76_D->N 0.000199681 300 chr21:46326937:G:A 2310_221_74_A->V 0.000199681 300 chr21:46326998:G:T 2310_160_54_P->T 0.000199681 300 chr21:46327010:T:A 2310_148_50_N->Y 0.000199681 300 chr21:46330222:C:A 2310_124_42_G->C 0.000199681 300 chr21:46330254:C:T 2310_92_31_S->N 0.000399361 300 chr21:46330266:T:C 2310_80_27_K->R 0.000199681 300 chr21:46330269:G:C 2310_77_26_T->R 0.000199681 300 chr21:46330281:G:C 2310_65_22_S->C 0.000199681 300 chr21:46330670:C:T 2310_28_10_A->T 0.0147764 300 chr21:46330685:G:A 2310_13_5_R->C 0.000998403 300 na12878 Variants: 300 chr21:46314907:T:A 2310_1062_354_Q->H 300 snyder Variants: 300 chr21:46314907:T:A 2310_1062_354_Q->H 301 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160255_ENST00000397850 gene_Name: ITB2_HUMAN 301 list of pdbs: 301 2V7D pdb_description: 24-Jun-08 X-ray 2.500 14-3-3 protein zeta in complex with thr758 phosphorylated integrin beta2 peptide 301 2P28 pdb_description: 14-Aug-07 X-ray 2.200 Structure of the phe2 and phe3 fragments of the integrin bet 301 2P26 pdb_description: 14-Aug-07 X-ray 1.750 Structure of the phe2 and phe3 fragments of the integrin bet 301 1YUK pdb_description: 19-Jul-05 X-ray 1.800 The crystal structure of the psi/hybrid domain/ i-egf1 segment from the human integrin beta2 at 1.8 resolution 301 1L3Y pdb_description: 01-Apr-02 NMR 15 Integrin egf-like module 3 from the beta-2 subunit 301 1JX3 pdb_description: 19-Sep-01 Theoret model Theoretical model of the integrin beta2 i-like domain 301 3K72 pdb_description: 12-Jan-10 X-ray 3.700 Structure of integrin alphax beta2 301 3K71 pdb_description: 12-Jan-10 X-ray 3.950 Structure of integrin alphax beta2 ectodomain 301 3K6S pdb_description: 12-Jan-10 X-ray 3.500 Structure of integrin alphaxbeta2 ectodomain 301 2JF1 pdb_description: 05-Feb-08 X-ray 2.200 Crystal structure of the filamin a repeat 21 complexed with the integrin beta2 cytoplasmic tail peptide 301 Zimmer Variants: 301 chr21:46314907:T:A 2310_1062_354_Q->H 301 HGMD Variants: 301 chr21:46306698:C:A 2310_2200_734_E->* 301 chr21:46308611:G:A 2310_2077_693_R->* 301 chr21:46308800:C:A 2310_1888_630_E->* 301 chr21:46309918:G:C 2310_1632_544_Y->* 301 chr21:46309948:G:T 2310_1602_534_C->* 301 chr21:46309960:G:C 2310_1590_530_Y->* 301 chr21:46311872:G:A 2310_1264_422_Q->* 301 chr21:46320377:C:T 2310_755_252_W->* 301 chr21:46321490:C:A 2310_658_220_E->* 301 chr21:46321586:G:A 2310_562_188_R->* 301 chr21:46326836:G:A 2310_322_108_R->* 301 chr21:46326959:G:A 2310_199_67_Q->* 301 chr21:46326972:G:T 2310_186_62_C->* 301 chr21:46330267:T:A 2310_79_27_K->* 301 chr21:46306751:C:G 2310_2147_716_G->A 301 chr21:46306752:C:G 2310_2146_716_G->R 301 chr21:46308745:G:A 2310_1943_648_P->L 301 chr21:46309234:A:G 2310_1834_612_C->R 301 chr21:46309291:G:A 2310_1777_593_R->C 301 chr21:46309300:A:G 2310_1768_590_C->R 301 chr21:46309312:G:A 2310_1756_586_R->W 301 chr21:46309398:C:G 2310_1670_557_C->S 301 chr21:46311778:C:T 2310_1358_453_S->N 301 chr21:46314917:T:C 2310_1052_351_N->S 301 chr21:46314948:C:G 2310_1021_341_A->P 301 chr21:46319013:G:T 2310_962_321_A->E 301 chr21:46319070:G:A 2310_905_302_P->L 301 chr21:46319076:T:A 2310_899_300_D->V 301 chr21:46320282:C:T 2310_850_284_G->S 301 chr21:46320286:G:T 2310_846_282_N->K 301 chr21:46320315:C:T 2310_817_273_G->R 301 chr21:46320323:G:A 2310_809_270_A->V 301 chr21:46320363:G:A 2310_769_257_R->W 301 chr21:46320378:A:G 2310_754_252_W->R 301 chr21:46321433:C:T 2310_715_239_A->T 301 chr21:46321436:C:T 2310_712_238_D->N 301 chr21:46321457:C:G 2310_691_231_D->H 301 chr21:46321561:T:G 2310_587_196_K->T 301 chr21:46321615:G:A 2310_533_178_P->L 301 chr21:46321628:T:C 2310_520_174_K->E 301 chr21:46321643:C:T 2310_505_169_G->R 301 chr21:46323330:C:T 2310_449_150_G->D 301 chr21:46323333:A:G 2310_446_149_L->P 301 chr21:46323367:A:G 2310_412_138_S->P 301 chr21:46323379:C:T 2310_400_134_D->N 301 chr21:46323387:T:G 2310_392_131_Y->S 301 chr21:46323397:C:T 2310_382_128_D->N 301 chr21:46323397:C:A 2310_382_128_D->Y 301 chr21:46326844:A:G 2310_314_105_L->P 301 chr21:46326929:C:T 2310_229_77_D->N 301 chr21:46326974:A:G 2310_184_62_C->R 301 chr21:46330216:T:G 2310_130_44_T->P 301 chr21:46330240:A:T 2310_106_36_C->S 301 chr21:46330696:A:T 2310_2_1_M->K 301 oneKG Variants: 301 chr21:46330267:T:A 2310_79_27_K->* 0.000199681 301 chr21:46306314:G:A 2310_2279_760_T->M 0.000199681 301 chr21:46306329:T:C 2310_2264_755_K->R 0.000199681 301 chr21:46306689:G:A 2310_2209_737_R->C 0.000399361 301 chr21:46306709:C:T 2310_2189_730_S->N 0.00179712 301 chr21:46306715:T:C 2310_2183_728_H->R 0.000199681 301 chr21:46306794:C:T 2310_2104_702_A->T 0.000399361 301 chr21:46308610:C:T 2310_2078_693_R->Q 0.000199681 301 chr21:46308638:G:A 2310_2050_684_R->C 0.000599042 301 chr21:46308684:C:G 2310_2004_668_E->D 0.000199681 301 chr21:46308719:C:T 2310_1969_657_V->M 0.000199681 301 chr21:46308751:G:A 2310_1937_646_A->V 0.000199681 301 chr21:46308754:G:A 2310_1934_645_A->V 0.000599042 301 chr21:46308755:C:A 2310_1933_645_A->S 0.000399361 301 chr21:46308800:C:T 2310_1888_630_E->K 0.000798722 301 chr21:46308803:C:T 2310_1885_629_A->T 0.000399361 301 chr21:46309309:G:A 2310_1759_587_R->C 0.000399361 301 chr21:46309312:G:A 2310_1756_586_R->W 0.00239617 301 chr21:46309342:C:T 2310_1726_576_E->K 0.000199681 301 chr21:46309371:G:A 2310_1697_566_P->L 0.000399361 301 chr21:46309380:C:T 2310_1688_563_R->H 0.000399361 301 chr21:46309920:A:G 2310_1630_544_Y->H 0.000399361 301 chr21:46309931:T:C 2310_1619_540_N->S 0.000199681 301 chr21:46309983:C:T 2310_1567_523_D->N 0.000399361 301 chr21:46310007:C:T 2310_1543_515_G->R 0.000199681 301 chr21:46310057:C:T 2310_1493_498_R->Q 0.000199681 301 chr21:46311816:C:G 2310_1320_440_Q->H 0.000399361 301 chr21:46311821:C:T 2310_1315_439_V->M 0.000199681 301 chr21:46313371:G:A 2310_1172_391_T->M 0.00179712 301 chr21:46314907:T:A 2310_1062_354_Q->H 0.0 301 chr21:46319005:T:G 2310_970_324_S->R 0.000199681 301 chr21:46319014:C:T 2310_961_321_A->T 0.000199681 301 chr21:46319020:T:C 2310_955_319_I->V 0.000199681 301 chr21:46319057:C:G 2310_918_306_Q->H 0.000199681 301 chr21:46320279:G:A 2310_853_285_R->C 0.000199681 301 chr21:46320324:C:T 2310_808_270_A->T 0.000798722 301 chr21:46320327:A:G 2310_805_269_F->L 0.000599042 301 chr21:46320374:C:T 2310_758_253_R->H 0.000399361 301 chr21:46321415:C:T 2310_733_245_A->T 0.000199681 301 chr21:46321598:G:A 2310_550_184_P->S 0.000199681 301 chr21:46321603:G:A 2310_545_182_T->M 0.000199681 301 chr21:46321610:C:T 2310_538_180_V->M 0.000199681 301 chr21:46323295:C:T 2310_484_162_E->K 0.000199681 301 chr21:46323421:G:A 2310_358_120_R->W 0.00119808 301 chr21:46323442:C:T 2310_337_113_A->T 0.000199681 301 chr21:46326835:C:T 2310_323_108_R->Q 0.000199681 301 chr21:46326844:A:G 2310_314_105_L->P 0.000199681 301 chr21:46326847:G:A 2310_311_104_T->M 0.00119808 301 chr21:46326905:C:T 2310_253_85_A->T 0.000199681 301 chr21:46326929:C:T 2310_229_77_D->N 0.00299521 301 chr21:46326932:C:T 2310_226_76_D->N 0.000199681 301 chr21:46326937:G:A 2310_221_74_A->V 0.000199681 301 chr21:46326998:G:T 2310_160_54_P->T 0.000199681 301 chr21:46327010:T:A 2310_148_50_N->Y 0.000199681 301 chr21:46330222:C:A 2310_124_42_G->C 0.000199681 301 chr21:46330254:C:T 2310_92_31_S->N 0.000399361 301 chr21:46330266:T:C 2310_80_27_K->R 0.000199681 301 chr21:46330269:G:C 2310_77_26_T->R 0.000199681 301 chr21:46330281:G:C 2310_65_22_S->C 0.000199681 301 chr21:46330670:C:T 2310_28_10_A->T 0.0147764 301 chr21:46330685:G:A 2310_13_5_R->C 0.000998403 301 na12878 Variants: 301 chr21:46314907:T:A 2310_1062_354_Q->H 301 snyder Variants: 301 chr21:46314907:T:A 2310_1062_354_Q->H 302 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160255_ENST00000302347 gene_Name: ITB2_HUMAN 302 list of pdbs: 302 2V7D pdb_description: 24-Jun-08 X-ray 2.500 14-3-3 protein zeta in complex with thr758 phosphorylated integrin beta2 peptide 302 2P28 pdb_description: 14-Aug-07 X-ray 2.200 Structure of the phe2 and phe3 fragments of the integrin bet 302 2P26 pdb_description: 14-Aug-07 X-ray 1.750 Structure of the phe2 and phe3 fragments of the integrin bet 302 1YUK pdb_description: 19-Jul-05 X-ray 1.800 The crystal structure of the psi/hybrid domain/ i-egf1 segment from the human integrin beta2 at 1.8 resolution 302 1L3Y pdb_description: 01-Apr-02 NMR 15 Integrin egf-like module 3 from the beta-2 subunit 302 1JX3 pdb_description: 19-Sep-01 Theoret model Theoretical model of the integrin beta2 i-like domain 302 3K72 pdb_description: 12-Jan-10 X-ray 3.700 Structure of integrin alphax beta2 302 3K71 pdb_description: 12-Jan-10 X-ray 3.950 Structure of integrin alphax beta2 ectodomain 302 3K6S pdb_description: 12-Jan-10 X-ray 3.500 Structure of integrin alphaxbeta2 ectodomain 302 2JF1 pdb_description: 05-Feb-08 X-ray 2.200 Crystal structure of the filamin a repeat 21 complexed with the integrin beta2 cytoplasmic tail peptide 302 Zimmer Variants: 302 chr21:46314907:T:A 2310_1062_354_Q->H 302 HGMD Variants: 302 chr21:46306698:C:A 2310_2200_734_E->* 302 chr21:46308611:G:A 2310_2077_693_R->* 302 chr21:46308800:C:A 2310_1888_630_E->* 302 chr21:46309918:G:C 2310_1632_544_Y->* 302 chr21:46309948:G:T 2310_1602_534_C->* 302 chr21:46309960:G:C 2310_1590_530_Y->* 302 chr21:46311872:G:A 2310_1264_422_Q->* 302 chr21:46320377:C:T 2310_755_252_W->* 302 chr21:46321490:C:A 2310_658_220_E->* 302 chr21:46321586:G:A 2310_562_188_R->* 302 chr21:46326836:G:A 2310_322_108_R->* 302 chr21:46326959:G:A 2310_199_67_Q->* 302 chr21:46326972:G:T 2310_186_62_C->* 302 chr21:46330267:T:A 2310_79_27_K->* 302 chr21:46306751:C:G 2310_2147_716_G->A 302 chr21:46306752:C:G 2310_2146_716_G->R 302 chr21:46308745:G:A 2310_1943_648_P->L 302 chr21:46309234:A:G 2310_1834_612_C->R 302 chr21:46309291:G:A 2310_1777_593_R->C 302 chr21:46309300:A:G 2310_1768_590_C->R 302 chr21:46309312:G:A 2310_1756_586_R->W 302 chr21:46309398:C:G 2310_1670_557_C->S 302 chr21:46311778:C:T 2310_1358_453_S->N 302 chr21:46314917:T:C 2310_1052_351_N->S 302 chr21:46314948:C:G 2310_1021_341_A->P 302 chr21:46319013:G:T 2310_962_321_A->E 302 chr21:46319070:G:A 2310_905_302_P->L 302 chr21:46319076:T:A 2310_899_300_D->V 302 chr21:46320282:C:T 2310_850_284_G->S 302 chr21:46320286:G:T 2310_846_282_N->K 302 chr21:46320315:C:T 2310_817_273_G->R 302 chr21:46320323:G:A 2310_809_270_A->V 302 chr21:46320363:G:A 2310_769_257_R->W 302 chr21:46320378:A:G 2310_754_252_W->R 302 chr21:46321433:C:T 2310_715_239_A->T 302 chr21:46321436:C:T 2310_712_238_D->N 302 chr21:46321457:C:G 2310_691_231_D->H 302 chr21:46321561:T:G 2310_587_196_K->T 302 chr21:46321615:G:A 2310_533_178_P->L 302 chr21:46321628:T:C 2310_520_174_K->E 302 chr21:46321643:C:T 2310_505_169_G->R 302 chr21:46323330:C:T 2310_449_150_G->D 302 chr21:46323333:A:G 2310_446_149_L->P 302 chr21:46323367:A:G 2310_412_138_S->P 302 chr21:46323379:C:T 2310_400_134_D->N 302 chr21:46323387:T:G 2310_392_131_Y->S 302 chr21:46323397:C:T 2310_382_128_D->N 302 chr21:46323397:C:A 2310_382_128_D->Y 302 chr21:46326844:A:G 2310_314_105_L->P 302 chr21:46326929:C:T 2310_229_77_D->N 302 chr21:46326974:A:G 2310_184_62_C->R 302 chr21:46330216:T:G 2310_130_44_T->P 302 chr21:46330240:A:T 2310_106_36_C->S 302 chr21:46330696:A:T 2310_2_1_M->K 302 oneKG Variants: 302 chr21:46330267:T:A 2310_79_27_K->* 0.000199681 302 chr21:46306314:G:A 2310_2279_760_T->M 0.000199681 302 chr21:46306329:T:C 2310_2264_755_K->R 0.000199681 302 chr21:46306689:G:A 2310_2209_737_R->C 0.000399361 302 chr21:46306709:C:T 2310_2189_730_S->N 0.00179712 302 chr21:46306715:T:C 2310_2183_728_H->R 0.000199681 302 chr21:46306794:C:T 2310_2104_702_A->T 0.000399361 302 chr21:46308610:C:T 2310_2078_693_R->Q 0.000199681 302 chr21:46308638:G:A 2310_2050_684_R->C 0.000599042 302 chr21:46308684:C:G 2310_2004_668_E->D 0.000199681 302 chr21:46308719:C:T 2310_1969_657_V->M 0.000199681 302 chr21:46308751:G:A 2310_1937_646_A->V 0.000199681 302 chr21:46308754:G:A 2310_1934_645_A->V 0.000599042 302 chr21:46308755:C:A 2310_1933_645_A->S 0.000399361 302 chr21:46308800:C:T 2310_1888_630_E->K 0.000798722 302 chr21:46308803:C:T 2310_1885_629_A->T 0.000399361 302 chr21:46309309:G:A 2310_1759_587_R->C 0.000399361 302 chr21:46309312:G:A 2310_1756_586_R->W 0.00239617 302 chr21:46309342:C:T 2310_1726_576_E->K 0.000199681 302 chr21:46309371:G:A 2310_1697_566_P->L 0.000399361 302 chr21:46309380:C:T 2310_1688_563_R->H 0.000399361 302 chr21:46309920:A:G 2310_1630_544_Y->H 0.000399361 302 chr21:46309931:T:C 2310_1619_540_N->S 0.000199681 302 chr21:46309983:C:T 2310_1567_523_D->N 0.000399361 302 chr21:46310007:C:T 2310_1543_515_G->R 0.000199681 302 chr21:46310057:C:T 2310_1493_498_R->Q 0.000199681 302 chr21:46311816:C:G 2310_1320_440_Q->H 0.000399361 302 chr21:46311821:C:T 2310_1315_439_V->M 0.000199681 302 chr21:46313371:G:A 2310_1172_391_T->M 0.00179712 302 chr21:46314907:T:A 2310_1062_354_Q->H 0.0 302 chr21:46319005:T:G 2310_970_324_S->R 0.000199681 302 chr21:46319014:C:T 2310_961_321_A->T 0.000199681 302 chr21:46319020:T:C 2310_955_319_I->V 0.000199681 302 chr21:46319057:C:G 2310_918_306_Q->H 0.000199681 302 chr21:46320279:G:A 2310_853_285_R->C 0.000199681 302 chr21:46320324:C:T 2310_808_270_A->T 0.000798722 302 chr21:46320327:A:G 2310_805_269_F->L 0.000599042 302 chr21:46320374:C:T 2310_758_253_R->H 0.000399361 302 chr21:46321415:C:T 2310_733_245_A->T 0.000199681 302 chr21:46321598:G:A 2310_550_184_P->S 0.000199681 302 chr21:46321603:G:A 2310_545_182_T->M 0.000199681 302 chr21:46321610:C:T 2310_538_180_V->M 0.000199681 302 chr21:46323295:C:T 2310_484_162_E->K 0.000199681 302 chr21:46323421:G:A 2310_358_120_R->W 0.00119808 302 chr21:46323442:C:T 2310_337_113_A->T 0.000199681 302 chr21:46326835:C:T 2310_323_108_R->Q 0.000199681 302 chr21:46326844:A:G 2310_314_105_L->P 0.000199681 302 chr21:46326847:G:A 2310_311_104_T->M 0.00119808 302 chr21:46326905:C:T 2310_253_85_A->T 0.000199681 302 chr21:46326929:C:T 2310_229_77_D->N 0.00299521 302 chr21:46326932:C:T 2310_226_76_D->N 0.000199681 302 chr21:46326937:G:A 2310_221_74_A->V 0.000199681 302 chr21:46326998:G:T 2310_160_54_P->T 0.000199681 302 chr21:46327010:T:A 2310_148_50_N->Y 0.000199681 302 chr21:46330222:C:A 2310_124_42_G->C 0.000199681 302 chr21:46330254:C:T 2310_92_31_S->N 0.000399361 302 chr21:46330266:T:C 2310_80_27_K->R 0.000199681 302 chr21:46330269:G:C 2310_77_26_T->R 0.000199681 302 chr21:46330281:G:C 2310_65_22_S->C 0.000199681 302 chr21:46330670:C:T 2310_28_10_A->T 0.0147764 302 chr21:46330685:G:A 2310_13_5_R->C 0.000998403 302 na12878 Variants: 302 chr21:46314907:T:A 2310_1062_354_Q->H 302 snyder Variants: 302 chr21:46314907:T:A 2310_1062_354_Q->H 303 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100365_ENST00000397147 gene_Name: NCF4_HUMAN 303 list of pdbs: 303 2DYB pdb_description: 23-Jan-07 X-ray 3.150 The crystal structure of human p40(phox) 303 1Z9Q pdb_description: 21-Mar-06 NMR 20 Solution structure of sh3 domain of p40phox 303 1W6X pdb_description: 18-Jan-05 X-ray 2.000 Sh3 domain of p40phox, component of the NADPH oxidase 303 1H6H pdb_description: 01-Nov-01 X-ray 1.700 Structure of the px domain from p40phox bound to phosphatidylinositol 3-phosphate 303 1OEY pdb_description: 29-Jul-03 X-ray 2.000 Heterodimer of p40phox and p67phox pb1 domains from human NADPH oxidase 303 1W70 pdb_description: 18-Jan-05 X-ray 1.460 Sh3 domain of p40phox complexed with c-terminal polyproline region of p47phox 303 Zimmer Variants: 303 chr22:37271882:T:C 1047_815_272_L->P;HUB=REG;GNEG=Yes;GENE=NCF4;CDSS=3 303 HGMD Variants: 303 chr22:37263476:G:A 1047_314_105_R->Q 303 oneKG Variants: 303 chr22:37260112:G:A 1047_58_20_V->I 0.000199681 303 chr22:37260128:A:G 1047_74_25_N->S 0.000199681 303 chr22:37260130:A:G 1047_76_26_I->V 0.000199681 303 chr22:37260140:T:A 1047_86_29_I->N 0.000199681 303 chr22:37260988:G:A 1047_145_49_G->R 0.000199681 303 chr22:37261015:C:T 1047_172_58_R->C 0.00119808 303 chr22:37261021:C:T 1047_178_60_R->C 0.000199681 303 chr22:37261081:A:G 1047_238_80_S->G 0.000199681 303 chr22:37261097:C:A 1047_254_85_T->N 0.00279553 303 chr22:37263500:T:G 1047_338_113_M->R 0.000199681 303 chr22:37266565:C:T 1047_451_151_R->C 0.000199681 303 chr22:37266571:C:T 1047_457_153_R->C 0.000199681 303 chr22:37266572:G:A 1047_458_153_R->H 0.000998403 303 chr22:37267701:G:A 1047_478_160_V->M 0.00139776 303 chr22:37268438:C:T 1047_598_200_L->F 0.000199681 303 chr22:37271714:C:T 1047_647_216_T->M 0.000599042 303 chr22:37271737:G:A 1047_670_224_V->M 0.000199681 303 chr22:37271789:G:A 1047_722_241_R->H 0.000199681 303 chr22:37271803:G:A 1047_736_246_E->K 0.000199681 303 chr22:37271816:G:A 1047_749_250_S->N 0.000199681 303 chr22:37271864:T:C 1047_797_266_L->P 0.000399361 303 chr22:37271882:T:C 1047_815_272_L->P 0.171925 303 chr22:37271906:G:C 1047_839_280_G->A 0.000199681 303 chr22:37272023:C:T 1047_956_319_P->L 0.000199681 303 chr22:37272064:C:A 1047_997_333_P->T 0.000599042 303 na12878 Variants: 303 chr22:37271882:T:C 1047_815_272_L->P 303 snyder Variants: 303 chr22:37271882:T:C 1047_815_272_L->P 304 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114013_ENST00000469710 gene_Name: CD86_HUMAN 304 list of pdbs: 304 1NCN pdb_description: 11-Mar-03 X-ray 2.700 The receptor-binding domain of human b7-2 304 1I85 pdb_description: 04-Apr-01 X-ray 3.200 Crystal structure of the ctla-4/b7-2 complex 304 Zimmer Variants: 304 chr3:121838319:G:A 744_682_228_A->T;HUB=REG;GENE=CD86;CDSS=3;DBRECUR=CD86 304 chr3:121825197:G:A 744_307_103_V->I;HUB=REG;GENE=CD86;CDSS=2;DBRECUR=CD86 304 HGMD Variants: 304 chr3:121825197:G:A 744_307_103_V->I 304 chr3:121838319:G:A 744_682_228_A->T 304 oneKG Variants: 304 chr3:121822615:G:T 744_75_25_L->F 0.000199681 304 chr3:121825153:G:A 744_263_88_S->N 0.000599042 304 chr3:121825197:G:A 744_307_103_V->I 0.131989 304 chr3:121825320:C:T 744_430_144_R->W 0.000199681 304 chr3:121825338:T:C 744_448_150_F->L 0.000199681 304 chr3:121828181:T:C 744_527_176_I->T 0.000798722 304 chr3:121828223:A:G 744_569_190_K->R 0.000199681 304 chr3:121828231:C:T 744_577_193_R->W 0.000199681 304 chr3:121828232:G:A 744_578_193_R->Q 0.000199681 304 chr3:121836910:A:G 744_617_206_E->G 0.000199681 304 chr3:121838296:A:G 744_659_220_H->R 0.000199681 304 chr3:121838319:G:A 744_682_228_A->T 0.342652 304 chr3:121838358:G:A 744_721_241_D->N 0.0061901 304 na12878 Variants: 304 chr3:121825197:G:A 744_307_103_V->I 304 snyder Variants: 304 chr3:121825197:G:A 744_307_103_V->I 305 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114013_ENST00000493101 gene_Name: CD86_HUMAN 305 list of pdbs: 305 1NCN pdb_description: 11-Mar-03 X-ray 2.700 The receptor-binding domain of human b7-2 305 1I85 pdb_description: 04-Apr-01 X-ray 3.200 Crystal structure of the ctla-4/b7-2 complex 305 Zimmer Variants: 305 chr3:121838319:G:A 654_592_198_A->T 305 chr3:121825197:G:A 654_217_73_V->I 305 HGMD Variants: 305 chr3:121825197:G:A 654_217_73_V->I 305 chr3:121838319:G:A 654_592_198_A->T 305 oneKG Variants: 305 chr3:121774344:C:A 654_8_3_P->H 0.000399361 305 chr3:121825153:G:A 654_173_58_S->N 0.000599042 305 chr3:121825197:G:A 654_217_73_V->I 0.131989 305 chr3:121825320:C:T 654_340_114_R->W 0.000199681 305 chr3:121825338:T:C 654_358_120_F->L 0.000199681 305 chr3:121828181:T:C 654_437_146_I->T 0.000798722 305 chr3:121828223:A:G 654_479_160_K->R 0.000199681 305 chr3:121828231:C:T 654_487_163_R->W 0.000199681 305 chr3:121828232:G:A 654_488_163_R->Q 0.000199681 305 chr3:121836910:A:G 654_527_176_E->G 0.000199681 305 chr3:121838296:A:G 654_569_190_H->R 0.000199681 305 chr3:121838319:G:A 654_592_198_A->T 0.342652 305 chr3:121838358:G:A 654_631_211_D->N 0.0061901 305 na12878 Variants: 305 chr3:121825197:G:A 654_217_73_V->I 305 snyder Variants: 305 chr3:121825197:G:A 654_217_73_V->I 306 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114013_ENST00000330540 gene_Name: CD86_HUMAN 306 list of pdbs: 306 1NCN pdb_description: 11-Mar-03 X-ray 2.700 The receptor-binding domain of human b7-2 306 1I85 pdb_description: 04-Apr-01 X-ray 3.200 Crystal structure of the ctla-4/b7-2 complex 306 Zimmer Variants: 306 chr3:121838319:G:A 990_928_310_A->T 306 chr3:121825197:G:A 990_553_185_V->I 306 HGMD Variants: 306 chr3:121825197:G:A 990_553_185_V->I 306 chr3:121838319:G:A 990_928_310_A->T 306 oneKG Variants: 306 chr3:121774344:C:A 990_8_3_P->H 0.000399361 306 chr3:121822365:C:T 990_71_24_A->V 0.000199681 306 chr3:121822377:T:G 990_83_28_I->S 0.00179712 306 chr3:121822512:A:G 990_218_73_E->G 0.000199681 306 chr3:121822615:G:T 990_321_107_L->F 0.000199681 306 chr3:121825153:G:A 990_509_170_S->N 0.000599042 306 chr3:121825197:G:A 990_553_185_V->I 0.131989 306 chr3:121825320:C:T 990_676_226_R->W 0.000199681 306 chr3:121825338:T:C 990_694_232_F->L 0.000199681 306 chr3:121828181:T:C 990_773_258_I->T 0.000798722 306 chr3:121828223:A:G 990_815_272_K->R 0.000199681 306 chr3:121828231:C:T 990_823_275_R->W 0.000199681 306 chr3:121828232:G:A 990_824_275_R->Q 0.000199681 306 chr3:121836910:A:G 990_863_288_E->G 0.000199681 306 chr3:121838296:A:G 990_905_302_H->R 0.000199681 306 chr3:121838319:G:A 990_928_310_A->T 0.342652 306 chr3:121838358:G:A 990_967_323_D->N 0.0061901 306 na12878 Variants: 306 chr3:121825197:G:A 990_553_185_V->I 306 snyder Variants: 306 chr3:121825197:G:A 990_553_185_V->I 307 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114013_ENST00000393627 gene_Name: CD86_HUMAN 307 list of pdbs: 307 1NCN pdb_description: 11-Mar-03 X-ray 2.700 The receptor-binding domain of human b7-2 307 1I85 pdb_description: 04-Apr-01 X-ray 3.200 Crystal structure of the ctla-4/b7-2 complex 307 Zimmer Variants: 307 chr3:121838319:G:A 972_910_304_A->T 307 chr3:121825197:G:A 972_535_179_V->I 307 HGMD Variants: 307 chr3:121825197:G:A 972_535_179_V->I 307 chr3:121838319:G:A 972_910_304_A->T 307 oneKG Variants: 307 chr3:121822365:C:T 972_53_18_A->V 0.000199681 307 chr3:121822377:T:G 972_65_22_I->S 0.00179712 307 chr3:121822512:A:G 972_200_67_E->G 0.000199681 307 chr3:121822615:G:T 972_303_101_L->F 0.000199681 307 chr3:121825153:G:A 972_491_164_S->N 0.000599042 307 chr3:121825197:G:A 972_535_179_V->I 0.131989 307 chr3:121825320:C:T 972_658_220_R->W 0.000199681 307 chr3:121825338:T:C 972_676_226_F->L 0.000199681 307 chr3:121828181:T:C 972_755_252_I->T 0.000798722 307 chr3:121828223:A:G 972_797_266_K->R 0.000199681 307 chr3:121828231:C:T 972_805_269_R->W 0.000199681 307 chr3:121828232:G:A 972_806_269_R->Q 0.000199681 307 chr3:121836910:A:G 972_845_282_E->G 0.000199681 307 chr3:121838296:A:G 972_887_296_H->R 0.000199681 307 chr3:121838319:G:A 972_910_304_A->T 0.342652 307 chr3:121838358:G:A 972_949_317_D->N 0.0061901 307 na12878 Variants: 307 chr3:121825197:G:A 972_535_179_V->I 307 snyder Variants: 307 chr3:121825197:G:A 972_535_179_V->I 308 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000065534_ENST00000346322 gene_Name: MYLK_HUMAN 308 list of pdbs: 308 2YR3 pdb_description: 02-Oct-07 NMR 20 Solution structure of the fourth ig-like domain from myosin light chain kinase, smooth muscle 308 2CQV pdb_description: 20-Nov-05 NMR 20 Solution structure of the eighth ig-like domain of human myosin light chain kinase 308 2K0F pdb_description: 10-Jun-08 NMR 160 Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase 308 Zimmer Variants: 308 chr3:123457893:G:A 5538_439_147_P->S 308 HGMD Variants: 308 chr3:123366252:G:A 5538_4231_1411_R->* 308 chr3:123339147:A:G 5538_5068_1690_S->P 308 chr3:123339162:C:T 5538_5053_1685_A->T 308 chr3:123376066:C:T 5538_3988_1330_E->K 308 chr3:123401086:C:T 5538_3430_1144_V->M 308 chr3:123457893:G:A 5538_439_147_P->S 308 chr3:123512627:G:T 5538_62_21_P->H 308 oneKG Variants: 308 chr3:123452942:G:A 5538_901_301_Q->* 0.000199681 308 chr3:123332995:G:A 5538_5495_1832_T->M 0.000199681 308 chr3:123333077:C:T 5538_5413_1805_G->R 0.000199681 308 chr3:123333092:T:C 5538_5398_1800_I->V 0.000199681 308 chr3:123333111:G:C 5538_5379_1793_D->E 0.000399361 308 chr3:123337545:G:A 5538_5234_1745_T->I 0.00259585 308 chr3:123339054:C:T 5538_5161_1721_E->K 0.000399361 308 chr3:123339083:G:A 5538_5132_1711_P->L 0.000199681 308 chr3:123339117:C:T 5538_5098_1700_G->S 0.000199681 308 chr3:123345771:G:A 5538_4925_1642_T->M 0.000199681 308 chr3:123348322:T:G 5538_4906_1636_K->Q 0.000199681 308 chr3:123348367:C:T 5538_4861_1621_D->N 0.000399361 308 chr3:123348420:T:C 5538_4808_1603_N->S 0.000199681 308 chr3:123356964:C:T 5538_4708_1570_G->S 0.000599042 308 chr3:123356997:C:T 5538_4675_1559_V->M 0.000998403 308 chr3:123357035:G:A 5538_4637_1546_A->V 0.000199681 308 chr3:123366097:C:G 5538_4386_1462_K->N 0.000998403 308 chr3:123366170:C:T 5538_4313_1438_R->Q 0.000199681 308 chr3:123366171:G:A 5538_4312_1438_R->W 0.000199681 308 chr3:123366233:G:A 5538_4250_1417_T->I 0.000199681 308 chr3:123367884:C:T 5538_4142_1381_R->Q 0.00519169 308 chr3:123367885:G:A 5538_4141_1381_R->W 0.000199681 308 chr3:123375991:C:T 5538_4063_1355_V->I 0.000199681 308 chr3:123375994:T:C 5538_4060_1354_T->A 0.000199681 308 chr3:123376066:C:T 5538_3988_1330_E->K 0.000798722 308 chr3:123376108:G:A 5538_3946_1316_R->C 0.000199681 308 chr3:123376251:G:T 5538_3803_1268_T->K 0.000199681 308 chr3:123376274:A:C 5538_3780_1260_D->E 0.00499201 308 chr3:123383039:C:T 5538_3691_1231_A->T 0.00139776 308 chr3:123383069:C:T 5538_3661_1221_E->K 0.000798722 308 chr3:123383082:C:A 5538_3648_1216_K->N 0.000199681 308 chr3:123385073:C:T 5538_3617_1206_R->Q 0.000199681 308 chr3:123385146:C:T 5538_3544_1182_A->T 0.000199681 308 chr3:123385191:T:C 5538_3499_1167_M->V 0.000798722 308 chr3:123411611:G:A 5538_3329_1110_A->V 0.000199681 308 chr3:123418893:G:C 5538_3215_1072_T->S 0.000199681 308 chr3:123419005:G:C 5538_3103_1035_L->V 0.000199681 308 chr3:123419029:T:A 5538_3079_1027_T->S 0.000199681 308 chr3:123419034:T:A 5538_3074_1025_Q->L 0.000199681 308 chr3:123419062:T:C 5538_3046_1016_T->A 0.063099 308 chr3:123419073:T:C 5538_3035_1012_H->R 0.00299521 308 chr3:123419094:T:A 5538_3014_1005_D->V 0.000199681 308 chr3:123419118:T:C 5538_2990_997_E->G 0.000199681 308 chr3:123419283:G:A 5538_2825_942_S->F 0.000199681 308 chr3:123419359:C:G 5538_2749_917_G->R 0.000199681 308 chr3:123419416:C:T 5538_2692_898_V->M 0.000399361 308 chr3:123419454:C:T 5538_2654_885_R->H 0.000399361 308 chr3:123419466:T:C 5538_2642_881_Q->R 0.000199681 308 chr3:123419554:C:T 5538_2554_852_E->K 0.000199681 308 chr3:123419573:G:T 5538_2535_845_D->E 0.226038 308 chr3:123419574:T:C 5538_2534_845_D->G 0.000199681 308 chr3:123419575:C:T 5538_2533_845_D->N 0.000199681 308 chr3:123419622:C:T 5538_2486_829_R->Q 0.000199681 308 chr3:123419652:C:T 5538_2456_819_R->H 0.000199681 308 chr3:123419660:C:G 5538_2448_816_E->D 0.000199681 308 chr3:123419688:C:T 5538_2420_807_R->H 0.000599042 308 chr3:123419733:A:G 5538_2375_792_L->P 0.278954 308 chr3:123419782:G:A 5538_2326_776_R->C 0.0451278 308 chr3:123419830:C:T 5538_2278_760_E->K 0.000599042 308 chr3:123420322:G:T 5538_2218_740_L->M 0.000199681 308 chr3:123426623:C:T 5538_2161_721_G->S 0.000399361 308 chr3:123426686:C:T 5538_2098_700_E->K 0.000199681 308 chr3:123426757:G:A 5538_2027_676_A->V 0.000199681 308 chr3:123426764:C:T 5538_2020_674_A->T 0.000399361 308 chr3:123426842:C:A 5538_1942_648_D->Y 0.00239617 308 chr3:123427553:G:A 5538_1925_642_T->M 0.000199681 308 chr3:123427571:C:T 5538_1907_636_R->H 0.000199681 308 chr3:123427572:G:A 5538_1906_636_R->C 0.00119808 308 chr3:123427584:C:T 5538_1894_632_A->T 0.00499201 308 chr3:123427662:C:T 5538_1816_606_G->R 0.000599042 308 chr3:123427694:T:C 5538_1784_595_Q->R 0.000199681 308 chr3:123427717:C:A 5538_1761_587_W->C 0.000399361 308 chr3:123427733:G:A 5538_1745_582_P->L 0.000199681 308 chr3:123441086:C:T 5538_1486_496_V->M 0.000399361 308 chr3:123444811:C:T 5538_1424_475_R->Q 0.000399361 308 chr3:123444812:G:A 5538_1423_475_R->W 0.000399361 308 chr3:123444917:C:T 5538_1318_440_V->M 0.000399361 308 chr3:123452630:T:C 5538_1213_405_M->V 0.000199681 308 chr3:123452711:G:C 5538_1132_378_R->G 0.000798722 308 chr3:123452795:C:T 5538_1048_350_A->T 0.000199681 308 chr3:123452836:G:A 5538_1007_336_P->L 0.00139776 308 chr3:123452845:G:A 5538_998_333_P->L 0.000199681 308 chr3:123452860:G:A 5538_983_328_S->L 0.000399361 308 chr3:123452960:T:C 5538_883_295_K->E 0.000199681 308 chr3:123453061:A:G 5538_782_261_V->A 0.301917 308 chr3:123456251:G:C 5538_728_243_S->W 0.000199681 308 chr3:123456263:G:A 5538_716_239_S->L 0.000399361 308 chr3:123456339:C:T 5538_640_214_G->S 0.000199681 308 chr3:123456344:T:C 5538_635_212_K->R 0.000199681 308 chr3:123456362:C:A 5538_617_206_R->L 0.000199681 308 chr3:123456363:G:A 5538_616_206_R->C 0.000599042 308 chr3:123457853:G:C 5538_479_160_P->R 0.00459265 308 chr3:123457878:G:A 5538_454_152_R->C 0.000199681 308 chr3:123457893:G:A 5538_439_147_P->S 0.14377 308 chr3:123457908:C:G 5538_424_142_D->H 0.000199681 308 chr3:123458803:A:G 5538_419_140_L->S 0.000199681 308 chr3:123458823:C:A 5538_399_133_Q->H 0.000599042 308 chr3:123458839:G:A 5538_383_128_A->V 0.0101837 308 chr3:123458840:C:T 5538_382_128_A->T 0.00359425 308 chr3:123471183:A:G 5538_368_123_V->A 0.000199681 308 chr3:123471207:C:T 5538_344_115_R->H 0.000199681 308 chr3:123471211:C:T 5538_340_114_A->T 0.000199681 308 chr3:123471291:C:T 5538_260_87_G->E 0.000998403 308 chr3:123471301:C:T 5538_250_84_G->S 0.000199681 308 chr3:123471318:C:T 5538_233_78_R->H 0.000399361 308 chr3:123471319:G:A 5538_232_78_R->C 0.000199681 308 chr3:123471381:C:T 5538_170_57_R->Q 0.000199681 308 chr3:123512620:T:A 5538_69_23_R->S 0.000399361 308 chr3:123512627:G:T 5538_62_21_P->H 0.197284 308 na12878 Variants: 308 chr3:123457893:G:A 5538_439_147_P->S 308 snyder Variants: 308 chr3:123457893:G:A 5538_439_147_P->S 309 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000004399_ENST00000324093 gene_Name: PLXD1_HUMAN 309 list of pdbs: 309 3H6N pdb_description: 19-May-09 X-ray 2.000 Crystal structure of the ubiquitin-like domain of plexin d1 309 Zimmer Variants: 309 chr3:129281980:C:T 5778_4625_1542_S->N 309 chr3:129284818:A:C 5778_4234_1412_L->V 309 chr3:129293183:T:C 5778_2681_894_H->R 309 chr3:129293256:T:C 5778_2608_870_M->V 309 HGMD Variants: 309 chr3:129286619:G:A 5778_3895_1299_R->C 309 chr3:129304797:G:A 5778_1849_617_P->S 309 chr3:129305460:C:T 5778_1591_531_G->S 309 oneKG Variants: 309 chr3:129275243:G:A 5778_5690_1897_T->M 0.000199681 309 chr3:129275262:C:T 5778_5671_1891_A->T 0.000399361 309 chr3:129275480:C:T 5778_5641_1881_A->T 0.000199681 309 chr3:129275962:C:A 5778_5550_1850_E->D 0.000399361 309 chr3:129275975:G:A 5778_5537_1846_T->M 0.000399361 309 chr3:129276002:C:T 5778_5510_1837_R->H 0.000599042 309 chr3:129277372:C:T 5778_5344_1782_V->I 0.000199681 309 chr3:129278574:C:T 5778_5186_1729_R->H 0.000399361 309 chr3:129279222:C:G 5778_5084_1695_R->P 0.000199681 309 chr3:129279234:C:G 5778_5072_1691_R->P 0.000199681 309 chr3:129279235:G:A 5778_5071_1691_R->W 0.000199681 309 chr3:129279255:G:A 5778_5051_1684_A->V 0.000399361 309 chr3:129279268:T:C 5778_5038_1680_T->A 0.000199681 309 chr3:129279274:G:T 5778_5032_1678_L->M 0.00199681 309 chr3:129280528:T:C 5778_4954_1652_M->V 0.000599042 309 chr3:129280714:G:C 5778_4858_1620_L->V 0.000199681 309 chr3:129280738:C:T 5778_4834_1612_A->T 0.000199681 309 chr3:129281653:G:A 5778_4802_1601_P->L 0.000199681 309 chr3:129281758:C:A 5778_4697_1566_G->V 0.000199681 309 chr3:129281980:C:T 5778_4625_1542_S->N 0.0002 309 chr3:129281993:G:A 5778_4612_1538_R->C 0.000199681 309 chr3:129284278:C:T 5778_4426_1476_A->T 0.000199681 309 chr3:129284736:C:T 5778_4316_1439_R->H 0.000199681 309 chr3:129284818:A:C 5778_4234_1412_L->V 0.176717 309 chr3:129284836:T:G 5778_4216_1406_M->L 0.000399361 309 chr3:129286364:G:A 5778_4057_1353_H->Y 0.000199681 309 chr3:129286408:T:A 5778_4013_1338_K->M 0.000199681 309 chr3:129288725:T:C 5778_3826_1276_I->V 0.000199681 309 chr3:129288770:C:T 5778_3781_1261_A->T 0.000399361 309 chr3:129289655:C:T 5778_3724_1242_A->T 0.000199681 309 chr3:129289736:C:G 5778_3643_1215_V->L 0.000199681 309 chr3:129289738:C:T 5778_3641_1214_R->Q 0.000199681 309 chr3:129289944:G:A 5778_3539_1180_T->M 0.000199681 309 chr3:129289977:C:T 5778_3506_1169_R->H 0.000199681 309 chr3:129289978:G:A,T 5778_3505_1169_R->C 0.0061901 309 chr3:129289978:G:A,T 5778_3505_1169_R->S 0.0061901 309 chr3:129289992:C:T 5778_3491_1164_R->Q 0.000199681 309 chr3:129289993:G:A 5778_3490_1164_R->W 0.000199681 309 chr3:129290035:C:A 5778_3448_1150_V->L 0.00119808 309 chr3:129290356:G:A 5778_3332_1111_P->L 0.000199681 309 chr3:129290378:C:T 5778_3310_1104_V->I 0.000399361 309 chr3:129290398:A:G 5778_3290_1097_V->A 0.000199681 309 chr3:129290568:A:G 5778_3197_1066_M->T 0.00139776 309 chr3:129290590:C:T 5778_3175_1059_G->S 0.000399361 309 chr3:129290601:C:G 5778_3164_1055_G->A 0.000199681 309 chr3:129290640:G:A 5778_3125_1042_P->L 0.000399361 309 chr3:129290686:G:A 5778_3079_1027_R->C 0.000199681 309 chr3:129291561:T:C 5778_2968_990_M->V 0.000199681 309 chr3:129291704:C:T 5778_2918_973_R->Q 0.00179712 309 chr3:129291715:C:A 5778_2907_969_E->D 0.000599042 309 chr3:129291732:C:T 5778_2890_964_V->M 0.000399361 309 chr3:129291734:G:A 5778_2888_963_T->I 0.000199681 309 chr3:129292495:C:A 5778_2779_927_V->L 0.000199681 309 chr3:129293180:G:A 5778_2684_895_A->V 0.000399361 309 chr3:129293183:T:C 5778_2681_894_H->R 0.011781 309 chr3:129293184:G:A 5778_2680_894_H->Y 0.000199681 309 chr3:129293212:C:T 5778_2652_884_M->I 0.000599042 309 chr3:129293237:C:T 5778_2627_876_R->H 0.000399361 309 chr3:129293254:C:T 5778_2610_870_M->I 0.00299521 309 chr3:129293256:T:C 5778_2608_870_M->V 0.488019 309 chr3:129293274:C:T 5778_2590_864_D->N 0.000199681 309 chr3:129293277:C:T 5778_2587_863_E->K 0.000199681 309 chr3:129293316:C:T 5778_2548_850_A->T 0.000998403 309 chr3:129294341:C:T 5778_2501_834_R->Q 0.000199681 309 chr3:129294351:G:A 5778_2491_831_R->W 0.000199681 309 chr3:129294392:C:T 5778_2450_817_R->Q 0.000798722 309 chr3:129294393:G:A 5778_2449_817_R->W 0.000599042 309 chr3:129294626:G:A 5778_2419_807_R->C 0.000199681 309 chr3:129294656:C:T 5778_2389_797_E->K 0.000599042 309 chr3:129297243:G:A 5778_2275_759_P->S 0.000798722 309 chr3:129297257:C:T 5778_2261_754_R->Q 0.000399361 309 chr3:129302444:T:C 5778_2207_736_N->S 0.000399361 309 chr3:129302489:T:C 5778_2162_721_Q->R 0.00339457 309 chr3:129302495:G:A 5778_2156_719_S->L 0.000199681 309 chr3:129303236:G:C 5778_2021_674_P->R 0.000399361 309 chr3:129303260:C:T 5778_1997_666_R->K 0.000399361 309 chr3:129303326:C:T 5778_1931_644_R->H 0.000798722 309 chr3:129303386:G:A 5778_1871_624_S->L 0.00159744 309 chr3:129304797:G:A 5778_1849_617_P->S 0.0726837 309 chr3:129304821:C:T 5778_1825_609_E->K 0.000199681 309 chr3:129304850:C:T 5778_1796_599_R->H 0.000199681 309 chr3:129304851:G:A 5778_1795_599_R->C 0.000998403 309 chr3:129304853:C:G 5778_1793_598_S->T 0.000399361 309 chr3:129305094:C:T 5778_1642_548_A->T 0.000199681 309 chr3:129305107:C:A 5778_1629_543_R->S 0.000798722 309 chr3:129305459:C:A 5778_1592_531_G->V 0.00339457 309 chr3:129305460:C:T 5778_1591_531_G->S 0.0872604 309 chr3:129305473:G:C 5778_1578_526_D->E 0.000399361 309 chr3:129305507:T:C 5778_1544_515_Y->C 0.00219649 309 chr3:129305523:C:T 5778_1528_510_V->M 0.000199681 309 chr3:129305526:G:A 5778_1525_509_R->W 0.000199681 309 chr3:129305538:C:G 5778_1513_505_V->L 0.00638978 309 chr3:129305540:T:C 5778_1511_504_Q->R 0.00139776 309 chr3:129305549:T:C 5778_1502_501_E->G 0.000199681 309 chr3:129305550:C:T 5778_1501_501_E->K 0.00459265 309 chr3:129308294:G:T 5778_1388_463_T->K 0.000399361 309 chr3:129308307:G:A 5778_1375_459_P->S 0.000199681 309 chr3:129324608:C:G 5778_875_292_G->A 0.0109824 309 chr3:129324630:G:A 5778_853_285_H->Y 0.000199681 309 chr3:129324636:A:G 5778_847_283_F->L 0.000199681 309 chr3:129324746:C:G 5778_737_246_R->P 0.000199681 309 chr3:129324879:C:T 5778_604_202_A->T 0.000199681 309 chr3:129325028:C:T 5778_455_152_R->H 0.000199681 309 chr3:129325112:T:C 5778_371_124_Y->C 0.000199681 309 chr3:129325154:G:A 5778_329_110_P->L 0.000199681 309 chr3:129325244:T:C 5778_239_80_Y->C 0.000199681 309 na12878 Variants: 309 chr3:129281980:C:T 5778_4625_1542_S->N 309 chr3:129284818:A:C 5778_4234_1412_L->V 309 chr3:129293183:T:C 5778_2681_894_H->R 309 chr3:129293256:T:C 5778_2608_870_M->V 309 snyder Variants: 309 chr3:129281980:C:T 5778_4625_1542_S->N 309 chr3:129293183:T:C 5778_2681_894_H->R 309 chr3:129290035:C:A 5778_3448_1150_V->L 310 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000004399_ENST00000393239 gene_Name: PLXD1_HUMAN 310 list of pdbs: 310 3H6N pdb_description: 19-May-09 X-ray 2.000 Crystal structure of the ubiquitin-like domain of plexin d1 310 Zimmer Variants: 310 chr3:129281980:C:T 5358_4625_1542_S->N;GNEG=Yes;GENE=PLXND1;CDSS=3 310 chr3:129284818:A:C 5358_4234_1412_L->V;GNEG=Yes;GENE=PLXND1;CDSS=3 310 chr3:129293183:T:C 5358_2681_894_H->R;GNEG=Yes;GENE=PLXND1;CDSS=3 310 chr3:129293256:T:C 5358_2608_870_M->V;GNEG=Yes;GENE=PLXND1;CDSS=2 310 HGMD Variants: 310 chr3:129286619:G:A 5358_3895_1299_R->C 310 chr3:129304797:G:A 5358_1849_617_P->S 310 chr3:129305460:C:T 5358_1591_531_G->S 310 oneKG Variants: 310 chr3:129277372:C:T 5358_5351_1784_C->Y 0.000199681 310 chr3:129277382:G:A 5358_5341_1781_P->S,1 0.000199681 310 chr3:129278574:C:T 5358_5186_1729_R->H 0.000399361 310 chr3:129279222:C:G 5358_5084_1695_R->P 0.000199681 310 chr3:129279234:C:G 5358_5072_1691_R->P 0.000199681 310 chr3:129279235:G:A 5358_5071_1691_R->W 0.000199681 310 chr3:129279255:G:A 5358_5051_1684_A->V 0.000399361 310 chr3:129279268:T:C 5358_5038_1680_T->A 0.000199681 310 chr3:129279274:G:T 5358_5032_1678_L->M 0.00199681 310 chr3:129280528:T:C 5358_4954_1652_M->V 0.000599042 310 chr3:129280714:G:C 5358_4858_1620_L->V 0.000199681 310 chr3:129280738:C:T 5358_4834_1612_A->T 0.000199681 310 chr3:129281653:G:A 5358_4802_1601_P->L 0.000199681 310 chr3:129281758:C:A 5358_4697_1566_G->V 0.000199681 310 chr3:129281980:C:T 5358_4625_1542_S->N 0.0002 310 chr3:129281993:G:A 5358_4612_1538_R->C 0.000199681 310 chr3:129284278:C:T 5358_4426_1476_A->T 0.000199681 310 chr3:129284736:C:T 5358_4316_1439_R->H 0.000199681 310 chr3:129284818:A:C 5358_4234_1412_L->V 0.176717 310 chr3:129284836:T:G 5358_4216_1406_M->L 0.000399361 310 chr3:129286364:G:A 5358_4057_1353_H->Y 0.000199681 310 chr3:129286408:T:A 5358_4013_1338_K->M 0.000199681 310 chr3:129288725:T:C 5358_3826_1276_I->V 0.000199681 310 chr3:129288770:C:T 5358_3781_1261_A->T 0.000399361 310 chr3:129289655:C:T 5358_3724_1242_A->T 0.000199681 310 chr3:129289736:C:G 5358_3643_1215_V->L 0.000199681 310 chr3:129289738:C:T 5358_3641_1214_R->Q 0.000199681 310 chr3:129289944:G:A 5358_3539_1180_T->M 0.000199681 310 chr3:129289977:C:T 5358_3506_1169_R->H 0.000199681 310 chr3:129289978:G:A,T 5358_3505_1169_R->C,2 0.0061901 310 chr3:129289978:G:A,T 5358_3505_1169_R->S 0.0061901 310 chr3:129289992:C:T 5358_3491_1164_R->Q 0.000199681 310 chr3:129289993:G:A 5358_3490_1164_R->W 0.000199681 310 chr3:129290035:C:A 5358_3448_1150_V->L 0.00119808 310 chr3:129290356:G:A 5358_3332_1111_P->L 0.000199681 310 chr3:129290378:C:T 5358_3310_1104_V->I 0.000399361 310 chr3:129290398:A:G 5358_3290_1097_V->A 0.000199681 310 chr3:129290568:A:G 5358_3197_1066_M->T 0.00139776 310 chr3:129290590:C:T 5358_3175_1059_G->S 0.000399361 310 chr3:129290601:C:G 5358_3164_1055_G->A 0.000199681 310 chr3:129290640:G:A 5358_3125_1042_P->L 0.000399361 310 chr3:129290686:G:A 5358_3079_1027_R->C 0.000199681 310 chr3:129291561:T:C 5358_2968_990_M->V 0.000199681 310 chr3:129291704:C:T 5358_2918_973_R->Q 0.00179712 310 chr3:129291715:C:A 5358_2907_969_E->D 0.000599042 310 chr3:129291732:C:T 5358_2890_964_V->M 0.000399361 310 chr3:129291734:G:A 5358_2888_963_T->I 0.000199681 310 chr3:129292495:C:A 5358_2779_927_V->L 0.000199681 310 chr3:129293180:G:A 5358_2684_895_A->V 0.000399361 310 chr3:129293183:T:C 5358_2681_894_H->R 0.011781 310 chr3:129293184:G:A 5358_2680_894_H->Y 0.000199681 310 chr3:129293212:C:T 5358_2652_884_M->I 0.000599042 310 chr3:129293237:C:T 5358_2627_876_R->H 0.000399361 310 chr3:129293254:C:T 5358_2610_870_M->I 0.00299521 310 chr3:129293256:T:C 5358_2608_870_M->V 0.488019 310 chr3:129293274:C:T 5358_2590_864_D->N 0.000199681 310 chr3:129293277:C:T 5358_2587_863_E->K 0.000199681 310 chr3:129293316:C:T 5358_2548_850_A->T 0.000998403 310 chr3:129294341:C:T 5358_2501_834_R->Q 0.000199681 310 chr3:129294351:G:A 5358_2491_831_R->W 0.000199681 310 chr3:129294392:C:T 5358_2450_817_R->Q 0.000798722 310 chr3:129294393:G:A 5358_2449_817_R->W 0.000599042 310 chr3:129294626:G:A 5358_2419_807_R->C 0.000199681 310 chr3:129294656:C:T 5358_2389_797_E->K 0.000599042 310 chr3:129297243:G:A 5358_2275_759_P->S 0.000798722 310 chr3:129297257:C:T 5358_2261_754_R->Q 0.000399361 310 chr3:129302444:T:C 5358_2207_736_N->S 0.000399361 310 chr3:129302489:T:C 5358_2162_721_Q->R 0.00339457 310 chr3:129302495:G:A 5358_2156_719_S->L 0.000199681 310 chr3:129303236:G:C 5358_2021_674_P->R 0.000399361 310 chr3:129303260:C:T 5358_1997_666_R->K 0.000399361 310 chr3:129303326:C:T 5358_1931_644_R->H 0.000798722 310 chr3:129303386:G:A 5358_1871_624_S->L 0.00159744 310 chr3:129304797:G:A 5358_1849_617_P->S 0.0726837 310 chr3:129304821:C:T 5358_1825_609_E->K 0.000199681 310 chr3:129304850:C:T 5358_1796_599_R->H 0.000199681 310 chr3:129304851:G:A 5358_1795_599_R->C 0.000998403 310 chr3:129304853:C:G 5358_1793_598_S->T 0.000399361 310 chr3:129305094:C:T 5358_1642_548_A->T 0.000199681 310 chr3:129305107:C:A 5358_1629_543_R->S 0.000798722 310 chr3:129305459:C:A 5358_1592_531_G->V 0.00339457 310 chr3:129305460:C:T 5358_1591_531_G->S 0.0872604 310 chr3:129305473:G:C 5358_1578_526_D->E 0.000399361 310 chr3:129305507:T:C 5358_1544_515_Y->C 0.00219649 310 chr3:129305523:C:T 5358_1528_510_V->M 0.000199681 310 chr3:129305526:G:A 5358_1525_509_R->W 0.000199681 310 chr3:129305538:C:G 5358_1513_505_V->L 0.00638978 310 chr3:129305540:T:C 5358_1511_504_Q->R 0.00139776 310 chr3:129305549:T:C 5358_1502_501_E->G 0.000199681 310 chr3:129305550:C:T 5358_1501_501_E->K 0.00459265 310 chr3:129308294:G:T 5358_1388_463_T->K 0.000399361 310 chr3:129308307:G:A 5358_1375_459_P->S 0.000199681 310 chr3:129324608:C:G 5358_875_292_G->A 0.0109824 310 chr3:129324630:G:A 5358_853_285_H->Y 0.000199681 310 chr3:129324636:A:G 5358_847_283_F->L 0.000199681 310 chr3:129324746:C:G 5358_737_246_R->P 0.000199681 310 chr3:129324879:C:T 5358_604_202_A->T 0.000199681 310 chr3:129325028:C:T 5358_455_152_R->H 0.000199681 310 chr3:129325112:T:C 5358_371_124_Y->C 0.000199681 310 chr3:129325154:G:A 5358_329_110_P->L 0.000199681 310 chr3:129325244:T:C 5358_239_80_Y->C 0.000199681 310 na12878 Variants: 310 chr3:129281980:C:T 5358_4625_1542_S->N 310 chr3:129284818:A:C 5358_4234_1412_L->V 310 chr3:129293183:T:C 5358_2681_894_H->R 310 chr3:129293256:T:C 5358_2608_870_M->V 310 snyder Variants: 310 chr3:129281980:C:T 5358_4625_1542_S->N 310 chr3:129293183:T:C 5358_2681_894_H->R 310 chr3:129290035:C:A 5358_3448_1150_V->L 311 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000091513_ENST00000402696 gene_Name: TRFE_HUMAN 311 list of pdbs: 311 4H0W pdb_description: 26-Dec-12 X-ray 2.400 Bismuth bound human serum transferrin 311 3VE1 pdb_description: 22-Feb-12 X-ray 2.960 The 2.9 angstrom crystal structure of transferrin binding pr (tbpb) from serogroup b m982 neisseria meningitidis in comp human transferrin 311 3V8X pdb_description: 29-Feb-12 X-ray 2.600 The crystal structure of transferrin binding protein a (tbpa neisserial meningitidis serogroup b in complex with full le transferrin 311 3V89 pdb_description: 15-Feb-12 X-ray 3.100 The crystal structure of transferrin binding protein a (tbpa neisseria meningitidis serogroup b in complex with thE C-lo human transferrin 311 3V83 pdb_description: 15-Feb-12 X-ray 2.100 The 2.1 angstrom crystal structure of diferric human transfe 311 3SKP pdb_description: 15-Feb-12 X-ray 1.700 The structure of apo-human transferrin c-lobe with bound sul 311 3QYT pdb_description: 14-Mar-12 X-ray 2.800 Diferric bound human serum transferrin 311 3FGS pdb_description: 19-May-09 X-ray 1.800 Crystal structure of g65r/k206e double mutant of the n-lobe human transferrin 311 2O84 pdb_description: 23-Jan-07 X-ray 2.600 Crystal structure of k206e mutant of n-lobe human transferrin 311 2O7U pdb_description: 23-Jan-07 X-ray 2.800 Crystal structure of k206e/k296e mutant of the n-terminal ha molecule of human transferrin 311 2HAV pdb_description: 27-Jun-06 X-ray 2.700 Apo-human serum transferrin (glycosylated) 311 2HAU pdb_description: 27-Jun-06 X-ray 2.700 Apo-human serum transferrin (non-glycosylated) 311 1RYO pdb_description: 11-May-04 X-ray 1.200 Human serum transferrin, n-lobe bound with oxalate 311 1OQH pdb_description: 18-Mar-03 X-ray 2.400 Crystal structure of the r124a mutant of the n-lobe human transferrin 311 1OQG pdb_description: 18-Mar-03 X-ray 1.900 Crystal structure of the d63e mutant of the n-lobe human transferrin 311 1N84 pdb_description: 18-Mar-03 X-ray 2.050 Human serum transferrin, n-lobe 311 1N7X pdb_description: 18-Mar-03 X-ray 2.100 Human serum transferrin, n-lobe y45e mutant 311 1N7W pdb_description: 18-Mar-03 X-ray 2.200 Crystal structure of human serum transferrin, n-lobe l66w mu 311 1JQF pdb_description: 17-Oct-01 X-ray 1.850 Human transferrin n-lobe mutant h249q 311 1FQF pdb_description: 16-May-01 X-ray 2.100 Crystal structures of mutant (k296a) that abolish the dilysine interaction in the n-lobe of human transferrin 311 1FQE pdb_description: 16-May-01 X-ray 1.800 Crystal structures of mutant (k206a) that abolish the dilysine interaction in the n-lobe of human transferrin 311 1DTG pdb_description: 21-Jan-00 X-ray 2.400 Human transferrin n-lobe mutant h249e 311 1D4N pdb_description: 01-Mar-00 X-ray 2.000 Human serum transferrin 311 1D3K pdb_description: 01-Mar-00 X-ray 1.800 Human serum transferrin 311 1BTJ pdb_description: 13-Jan-99 X-ray 3.200 Human serum transferrin, recombinant n-terminal lobe, apo form, crystal form 2 311 1BP5 pdb_description: 13-Jan-99 X-ray 2.200 Human serum transferrin, recombinant n-terminal lobe, apo form 311 1B3E pdb_description: 26-Mar-99 X-ray 2.500 Human serum transferrin, n-terminal lobe, expressed in pichia pastoris 311 1A8F pdb_description: 17-Jun-98 X-ray 1.800 Human serum transferrin, recombinant n-terminal lobe 311 1A8E pdb_description: 17-Jun-98 X-ray 1.600 Human serum transferrin, recombinant n-terminal lobe 311 3S9N pdb_description: 10-Aug-11 X-ray 3.250 Complex between transferrin receptor 1 and transferrin with the n-lobe, room temperature 311 3S9M pdb_description: 10-Aug-11 X-ray 3.320 Complex between transferrin receptor 1 and transferrin with the n-lobe, cryocooled 1 311 3S9L pdb_description: 10-Aug-11 X-ray 3.220 Complex between transferrin receptor 1 and transferrin with the n-lobe, cryocooled 2 311 1SUV pdb_description: 13-Apr-04 - - Structure of human transferrin receptor-transferrin complex 311 Zimmer Variants: 311 chr3:133485133:A:G 2097_1342_448_I->V 311 HGMD Variants: 311 chr3:133472451:G:A 2097_229_77_D->N 311 chr3:133473480:G:A 2097_467_156_C->Y 311 chr3:133475152:T:G 2097_662_221_V->G 311 chr3:133475812:G:A 2097_829_277_G->S 311 chr3:133476629:A:G 2097_887_296_D->G 311 chr3:133476769:C:T 2097_1027_343_R->W 311 chr3:133478078:G:A 2097_1108_370_E->K 311 chr3:133478150:G:A 2097_1180_394_E->K 311 chr3:133483083:T:C 2097_1261_421_C->R 311 chr3:133483116:A:C 2097_1294_432_N->H 311 chr3:133485220:G:C 2097_1429_477_A->P 311 chr3:133486947:G:T 2097_1561_521_G->C 311 chr3:133494354:C:T 2097_1765_589_P->S 311 chr3:133494364:A:C 2097_1775_592_E->A 311 chr3:133494414:C:T 2097_1825_609_R->W 311 chr3:133495909:A:C 2097_1889_630_N->T 311 chr3:133495960:A:T 2097_1940_647_D->V 311 chr3:133496032:G:A 2097_2012_671_G->E 311 oneKG Variants: 311 chr3:133465300:G:A 2097_16_6_G->R 0.000798722 311 chr3:133467331:G:A 2097_119_40_S->N 0.000199681 311 chr3:133467337:G:A,T 2097_125_42_R->H 0.000399361 311 chr3:133467337:G:A,T 2097_125_42_R->L 0.000399361 311 chr3:133467346:T:C 2097_134_45_M->T 0.000199681 311 chr3:133467354:G:A 2097_142_48_V->I 0.000199681 311 chr3:133467370:G:T 2097_158_53_G->V 0.000199681 311 chr3:133467377:T:A 2097_165_55_S->R 0.000399361 311 chr3:133467387:G:A 2097_175_59_V->M 0.000199681 311 chr3:133467427:C:T 2097_215_72_A->V 0.00139776 311 chr3:133472449:C:T 2097_227_76_A->V 0.00179712 311 chr3:133472503:A:G 2097_281_94_N->S 0.000199681 311 chr3:133473342:C:T 2097_329_110_P->L 0.000399361 311 chr3:133473365:G:A 2097_352_118_A->T 0.000199681 311 chr3:133474225:C:T 2097_521_174_S->L 0.00159744 311 chr3:133474336:T:C 2097_632_211_F->S 0.000199681 311 chr3:133475740:C:T 2097_757_253_P->S 0.000199681 311 chr3:133475794:G:A 2097_811_271_V->M 0.000199681 311 chr3:133475812:G:A 2097_829_277_G->S 0.0305511 311 chr3:133476629:A:G 2097_887_296_D->G 0.0139776 311 chr3:133476694:G:T 2097_952_318_A->S 0.000199681 311 chr3:133476698:A:G 2097_956_319_H->R 0.00599042 311 chr3:133476719:C:G 2097_977_326_P->R 0.000199681 311 chr3:133476769:C:T 2097_1027_343_R->W 0.000599042 311 chr3:133476770:G:A 2097_1028_343_R->Q 0.000199681 311 chr3:133476778:C:T 2097_1036_346_R->W 0.00119808 311 chr3:133478128:G:C 2097_1158_386_E->D 0.000199681 311 chr3:133478173:G:C 2097_1203_401_M->I 0.000199681 311 chr3:133483057:G:C 2097_1235_412_G->A 0.000199681 311 chr3:133483724:G:A 2097_1303_435_D->N 0.000199681 311 chr3:133483743:C:G 2097_1322_441_P->R 0.000199681 311 chr3:133485133:A:G 2097_1342_448_I->V 0.006789 311 chr3:133485239:T:C 2097_1448_483_M->T 0.000199681 311 chr3:133486944:T:G 2097_1558_520_S->A 0.000199681 311 chr3:133487001:G:A 2097_1615_539_A->T 0.000199681 311 chr3:133489395:A:T 2097_1666_556_T->S 0.000199681 311 chr3:133494354:C:T 2097_1765_589_P->S 0.15635 311 chr3:133494363:G:A 2097_1774_592_E->K 0.000199681 311 chr3:133494394:C:T 2097_1805_602_P->L 0.000199681 311 chr3:133495911:G:A 2097_1891_631_V->I 0.000199681 311 chr3:133495914:A:G 2097_1894_632_T->A 0.000199681 311 chr3:133495924:C:T 2097_1904_635_S->L 0.000798722 311 chr3:133496007:A:G 2097_1987_663_R->G 0.000199681 311 chr3:133496032:G:A 2097_2012_671_G->E 0.00179712 311 chr3:133496065:G:C 2097_2045_682_R->T 0.000399361 311 chr3:133496082:T:A 2097_2062_688_S->T 0.000199681 311 na12878 Variants: 311 chr3:133485133:A:G 2097_1342_448_I->V 311 chr3:133494354:C:T 2097_1765_589_P->S 311 snyder Variants: 311 chr3:133485133:A:G 2097_1342_448_I->V 312 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000047457_ENST00000264613 gene_Name: CERU_HUMAN 312 list of pdbs: 312 4ENZ pdb_description: 17-Apr-13 X-ray 2.600 Structure of human ceruloplasmin at 2.6 a resolution 312 4EJX pdb_description: 10-Apr-13 X-ray 4.690 Structure of ceruloplasmin-myeloperoxidase complex 312 2J5W pdb_description: 06-Feb-07 X-ray 2.800 Ceruloplasmin revisited: structural and functional roles of various metal cation binding sites 312 1KCW pdb_description: 12-Feb-97 X-ray 3.000 X-ray crystal structure of human ceruloplasmin at 3.0 angstr 312 Zimmer Variants: 312 chr3:148916235:T:A 3198_1632_544_E->D;HUB=REG;GNEG=Yes;GENE=CP;CDSS=3 312 HGMD Variants: 312 chr3:148894111:C:T 3198_3107_1036_W->* 312 chr3:148896379:G:A 3198_2701_901_R->* 312 chr3:148897374:C:T 3198_2630_877_W->* 312 chr3:148903172:A:T 3198_2139_713_Y->* 312 chr3:148919931:G:A 3198_1306_436_R->* 312 chr3:148927136:G:A 3198_643_215_R->* 312 chr3:148895654:A:C 3198_2991_997_H->Q 312 chr3:148895683:C:T 3198_2962_988_G->S 312 chr3:148895692:T:C 3198_2953_985_M->V 312 chr3:148896396:C:G 3198_2684_895_G->A 312 chr3:148901300:C:T 3198_2378_793_R->H 312 chr3:148903153:G:A 3198_2158_720_R->W 312 chr3:148903180:G:T 3198_2131_711_Q->K 312 chr3:148903189:C:T 3198_2122_708_G->S 312 chr3:148904436:C:T 3198_1948_650_G->R 312 chr3:148904510:C:T 3198_1874_625_G->E 312 chr3:148916235:T:A 3198_1632_544_E->D 312 chr3:148924040:A:G 3198_1123_375_Y->H 312 chr3:148924114:G:T 3198_1049_350_A->D 312 chr3:148925338:C:G 3198_848_283_W->S 312 chr3:148927129:A:G 3198_650_217_F->S 312 chr3:148927974:G:C 3198_587_196_P->R 312 chr3:148927978:C:T 3198_583_195_G->R 312 chr3:148928068:G:C 3198_493_165_Q->E 312 chr3:148930403:C:G 3198_229_77_D->H 312 chr3:148930444:A:G 3198_188_63_I->T 312 chr3:148939498:T:A 3198_82_28_I->F 312 oneKG Variants: 312 chr3:148928039:A:T 3198_522_174_C->* 0.000199681 312 chr3:148894040:C:T 3198_3178_1060_E->K 0.000399361 312 chr3:148894088:C:T 3198_3130_1044_D->N 0.000199681 312 chr3:148894176:A:C 3198_3042_1014_D->E 0.000199681 312 chr3:148895647:C:T 3198_2998_1000_G->S 0.000599042 312 chr3:148895685:A:G 3198_2960_987_M->T 0.000199681 312 chr3:148895719:C:T 3198_2926_976_V->M 0.000399361 312 chr3:148896253:C:T 3198_2827_943_E->K 0.000199681 312 chr3:148896396:C:G 3198_2684_895_G->A 0.000798722 312 chr3:148896399:A:G 3198_2681_894_I->T 0.000199681 312 chr3:148896411:T:C 3198_2669_890_Y->C 0.000199681 312 chr3:148897383:C:T 3198_2621_874_C->Y 0.000199681 312 chr3:148897393:C:T 3198_2611_871_D->N 0.00119808 312 chr3:148897394:C:A 3198_2610_870_E->D 0.000199681 312 chr3:148897432:C:T 3198_2572_858_V->I 0.000199681 312 chr3:148899821:T:C 3198_2525_842_E->G 0.00479233 312 chr3:148899824:G:C 3198_2522_841_T->R 0.00239617 312 chr3:148899828:G:C 3198_2518_840_Q->E 0.000599042 312 chr3:148899900:C:T 3198_2446_816_V->I 0.000399361 312 chr3:148901300:C:T 3198_2378_793_R->H 0.0121805 312 chr3:148901345:T:C 3198_2333_778_K->R 0.000199681 312 chr3:148901391:C:T 3198_2287_763_V->I 0.000199681 312 chr3:148903087:C:G 3198_2224_742_E->Q 0.000399361 312 chr3:148903141:C:A 3198_2170_724_D->Y 0.000399361 312 chr3:148904333:G:A 3198_2051_684_T->M 0.000199681 312 chr3:148904379:C:G 3198_2005_669_G->R 0.000199681 312 chr3:148904439:C:T 3198_1945_649_A->T 0.00139776 312 chr3:148904481:T:C 3198_1903_635_T->A 0.000199681 312 chr3:148904484:G:T 3198_1900_634_L->I 0.000199681 312 chr3:148904489:G:A 3198_1895_632_P->L 0.000199681 312 chr3:148905892:G:T 3198_1811_604_P->H 0.000599042 312 chr3:148905928:A:G 3198_1775_592_L->P 0.000199681 312 chr3:148905929:G:A 3198_1774_592_L->F 0.000199681 312 chr3:148916210:G:A 3198_1657_553_L->F 0.000199681 312 chr3:148916215:G:A 3198_1652_551_T->I 0.0211661 312 chr3:148916235:T:A 3198_1632_544_E->D 0.13778 312 chr3:148917499:T:G 3198_1501_501_S->R 0.000599042 312 chr3:148917507:T:C 3198_1493_498_Q->R 0.000599042 312 chr3:148917513:T:C 3198_1487_496_N->S 0.000998403 312 chr3:148917551:A:T 3198_1449_483_N->K 0.000199681 312 chr3:148917570:G:A 3198_1430_477_P->L 0.000998403 312 chr3:148917603:T:A 3198_1397_466_H->L 0.000199681 312 chr3:148919930:C:A 3198_1307_436_R->L 0.000399361 312 chr3:148919960:C:T 3198_1277_426_R->H 0.000199681 312 chr3:148919966:A:G 3198_1271_424_V->A 0.000199681 312 chr3:148919972:T:C 3198_1265_422_K->R 0.000199681 312 chr3:148923972:G:C 3198_1191_397_N->K 0.000199681 312 chr3:148924031:C:T 3198_1132_378_A->T 0.000399361 312 chr3:148924064:G:A 3198_1099_367_R->C 0.0151757 312 chr3:148925195:G:A 3198_991_331_P->S 0.000199681 312 chr3:148925254:A:C 3198_932_311_I->S 0.000199681 312 chr3:148925257:C:T 3198_929_310_R->H 0.000199681 312 chr3:148925265:C:A 3198_921_307_K->N 0.000199681 312 chr3:148925393:A:T 3198_793_265_Y->N 0.000199681 312 chr3:148925398:T:C 3198_788_263_N->S 0.000399361 312 chr3:148927063:T:A 3198_716_239_Y->F 0.000399361 312 chr3:148927156:T:C 3198_623_208_E->G 0.000199681 312 chr3:148928104:C:T 3198_457_153_E->K 0.00179712 312 chr3:148928163:G:A 3198_398_133_A->V 0.000199681 312 chr3:148930242:A:T 3198_390_130_H->Q 0.000399361 312 chr3:148930285:G:T 3198_347_116_P->H 0.0071885 312 chr3:148930310:G:A 3198_322_108_H->Y 0.00279553 312 chr3:148930357:A:G 3198_275_92_F->S 0.000199681 312 chr3:148930372:G:A 3198_260_87_P->L 0.000399361 312 chr3:148930396:G:A 3198_236_79_T->I 0.000199681 312 chr3:148939524:G:A 3198_56_19_A->V 0.000199681 312 na12878 Variants: 312 chr3:148916235:T:A 3198_1632_544_E->D 312 snyder Variants: 312 chr3:148916235:T:A 3198_1632_544_E->D 313 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000072756_ENST00000251607 gene_Name: TRNT1_HUMAN 313 list of pdbs: 313 1OU5 pdb_description: 06-May-03 X-ray 3.400 Crystal structure of human cca-adding enzyme 313 Zimmer Variants: 313 chr3:3170792:C:T 1305_68_23_P->L 313 HGMD Variants: 313 chr3:3182312:C:T 1305_461_154_T->I 313 chr3:3182323:A:G 1305_472_158_M->V 313 chr3:3186283:T:C 1305_497_166_L->S 313 chr3:3186355:G:T 1305_569_190_R->I 313 chr3:3188173:T:C 1305_668_223_I->T 313 chr3:3189308:T:C 1305_977_326_I->T 313 chr3:3189779:A:G 1305_1246_416_K->E 313 oneKG Variants: 313 chr3:3189637:C:G 1305_1104_368_Y->* 0.000199681 313 chr3:3170744:A:G 1305_20_7_H->R 0.000199681 313 chr3:3170789:T:G 1305_65_22_L->R 0.000199681 313 chr3:3170791:C:G 1305_67_23_P->A 0.00279553 313 chr3:3170792:C:T 1305_68_23_P->L 0.095447 313 chr3:3170831:A:T 1305_107_36_E->V 0.000199681 313 chr3:3179126:A:G 1305_331_111_I->V 0.00159744 313 chr3:3179136:G:A 1305_341_114_R->K 0.000199681 313 chr3:3182230:A:T 1305_379_127_I->F 0.000199681 313 chr3:3188254:A:T 1305_749_250_H->L 0.000199681 313 chr3:3188292:G:A 1305_787_263_V->M 0.000199681 313 chr3:3189140:C:CTAAACT,G 1305_809_270_P->R 0.00519169 313 chr3:3189179:A:G 1305_848_283_K->R 0.000199681 313 chr3:3189193:T:A 1305_862_288_F->I 0.00119808 313 chr3:3189615:G:A 1305_1082_361_R->H 0.000199681 313 chr3:3189738:A:G 1305_1205_402_K->R 0.000199681 313 chr3:3189770:G:A 1305_1237_413_E->K 0.000199681 313 na12878 Variants: 313 chr3:3170792:C:T 1305_68_23_P->L 313 snyder Variants: 313 chr3:3170792:C:T 1305_68_23_P->L 314 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000072756_ENST00000280591 gene_Name: TRNT1_HUMAN 314 list of pdbs: 314 1OU5 pdb_description: 06-May-03 X-ray 3.400 Crystal structure of human cca-adding enzyme 314 Zimmer Variants: 314 chr3:3170792:C:T 1245_68_23_P->L 314 HGMD Variants: 314 chr3:3182312:C:T 1245_461_154_T->I 314 chr3:3182323:A:G 1245_472_158_M->V 314 chr3:3186283:T:C 1245_497_166_L->S 314 chr3:3186355:G:T 1245_569_190_R->I 314 chr3:3188173:T:C 1245_668_223_I->T 314 chr3:3189308:T:C 1245_917_306_I->T 314 chr3:3189779:A:G 1245_1186_396_K->E 314 oneKG Variants: 314 chr3:3189637:C:G 1245_1044_348_Y->* 0.000199681 314 chr3:3170744:A:G 1245_20_7_H->R 0.000199681 314 chr3:3170789:T:G 1245_65_22_L->R 0.000199681 314 chr3:3170791:C:G 1245_67_23_P->A 0.00279553 314 chr3:3170792:C:T 1245_68_23_P->L 0.095447 314 chr3:3170831:A:T 1245_107_36_E->V 0.000199681 314 chr3:3179126:A:G 1245_331_111_I->V 0.00159744 314 chr3:3179136:G:A 1245_341_114_R->K 0.000199681 314 chr3:3182230:A:T 1245_379_127_I->F 0.000199681 314 chr3:3189140:C:CTAAACT,G 1245_749_250_P->R 0.00519169 314 chr3:3189179:A:G 1245_788_263_K->R 0.000199681 314 chr3:3189193:T:A 1245_802_268_F->I 0.00119808 314 chr3:3189615:G:A 1245_1022_341_R->H 0.000199681 314 chr3:3189738:A:G 1245_1145_382_K->R 0.000199681 314 chr3:3189770:G:A 1245_1177_393_E->K 0.000199681 314 na12878 Variants: 314 chr3:3170792:C:T 1245_68_23_P->L 314 snyder Variants: 314 chr3:3170792:C:T 1245_68_23_P->L 315 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000072756_ENST00000434583 gene_Name: TRNT1_HUMAN 315 list of pdbs: 315 1OU5 pdb_description: 06-May-03 X-ray 3.400 Crystal structure of human cca-adding enzyme 315 Zimmer Variants: 315 chr3:3170792:C:T 1305_68_23_P->L 315 HGMD Variants: 315 chr3:3182312:C:T 1305_461_154_T->I 315 chr3:3182323:A:G 1305_472_158_M->V 315 chr3:3186283:T:C 1305_497_166_L->S 315 chr3:3186355:G:T 1305_569_190_R->I 315 chr3:3188173:T:C 1305_668_223_I->T 315 chr3:3189308:T:C 1305_977_326_I->T 315 chr3:3189779:A:G 1305_1246_416_K->E 315 oneKG Variants: 315 chr3:3189637:C:G 1305_1104_368_Y->* 0.000199681 315 chr3:3170744:A:G 1305_20_7_H->R 0.000199681 315 chr3:3170789:T:G 1305_65_22_L->R 0.000199681 315 chr3:3170791:C:G 1305_67_23_P->A 0.00279553 315 chr3:3170792:C:T 1305_68_23_P->L 0.095447 315 chr3:3170831:A:T 1305_107_36_E->V 0.000199681 315 chr3:3179126:A:G 1305_331_111_I->V 0.00159744 315 chr3:3179136:G:A 1305_341_114_R->K 0.000199681 315 chr3:3182230:A:T 1305_379_127_I->F 0.000199681 315 chr3:3188254:A:T 1305_749_250_H->L 0.000199681 315 chr3:3188292:G:A 1305_787_263_V->M 0.000199681 315 chr3:3189140:C:CTAAACT,G 1305_809_270_P->R 0.00519169 315 chr3:3189179:A:G 1305_848_283_K->R 0.000199681 315 chr3:3189193:T:A 1305_862_288_F->I 0.00119808 315 chr3:3189615:G:A 1305_1082_361_R->H 0.000199681 315 chr3:3189738:A:G 1305_1205_402_K->R 0.000199681 315 chr3:3189770:G:A 1305_1237_413_E->K 0.000199681 315 na12878 Variants: 315 chr3:3170792:C:T 1305_68_23_P->L 315 snyder Variants: 315 chr3:3170792:C:T 1305_68_23_P->L 316 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164078_ENST00000296474 gene_Name: RON_HUMAN 316 list of pdbs: 316 4FWW pdb_description: 08-Aug-12 X-ray 1.850 Crystal structure of the sema-psi extracellular domains of h receptor tyrosine kinase 316 3PLS pdb_description: 24-Nov-10 X-ray 2.240 Ron in complex with ligand amp-pnp 316 Zimmer Variants: 316 chr3:49928691:T:C 4203_3583_1195_S->G 316 chr3:49924940:T:C 4203_4003_1335_R->G 316 chr3:49936102:T:C 4203_1568_523_Q->R 316 HGMD Variants: 316 chr3:49940112:C:T 4203_931_311_A->T 316 chr3:49940517:C:T 4203_526_176_D->N 316 oneKG Variants: 316 chr3:49928978:G:A 4203_3388_1130_R->* 0.000399361 316 chr3:49929221:G:A 4203_3322_1108_R->* 0.000199681 316 chr3:49933783:G:A 4203_2494_832_R->* 0.000199681 316 chr3:49934828:G:A 4203_2068_690_Q->* 0.00299521 316 chr3:49935503:T:A 4203_1861_621_K->* 0.00399361 316 chr3:49924751:G:A 4203_4192_1398_R->W 0.000199681 316 chr3:49924771:C:T 4203_4172_1391_R->Q 0.000199681 316 chr3:49924777:C:T 4203_4166_1389_R->Q 0.000199681 316 chr3:49924895:C:T 4203_4048_1350_G->R 0.000199681 316 chr3:49924922:C:T 4203_4021_1341_V->M 0.000199681 316 chr3:49924940:T:C 4203_4003_1335_R->G 0.419129 316 chr3:49924946:T:C 4203_3997_1333_T->A 0.000199681 316 chr3:49927376:C:T 4203_3928_1310_E->K 0.000199681 316 chr3:49927394:G:A 4203_3910_1304_R->W 0.000399361 316 chr3:49927957:C:G 4203_3771_1257_E->D 0.000199681 316 chr3:49927964:G:A 4203_3764_1255_A->V 0.000199681 316 chr3:49927979:G:A 4203_3749_1250_P->L 0.000199681 316 chr3:49927997:T:C 4203_3731_1244_H->R 0.000199681 316 chr3:49928012:T:C 4203_3716_1239_Y->C 0.000399361 316 chr3:49928036:C:T 4203_3692_1231_R->H 0.000199681 316 chr3:49928691:T:C 4203_3583_1195_S->G 0.0 316 chr3:49928693:C:T 4203_3581_1194_R->H 0.00299521 316 chr3:49928694:G:A 4203_3580_1194_R->C 0.000199681 316 chr3:49928851:A:G 4203_3515_1172_F->S 0.000199681 316 chr3:49928881:G:T 4203_3485_1162_P->H 0.000199681 316 chr3:49928938:A:G 4203_3428_1143_V->A 0.000599042 316 chr3:49928951:T:C 4203_3415_1139_N->D 0.000199681 316 chr3:49928977:C:T 4203_3389_1130_R->Q 0.000199681 316 chr3:49929220:C:A 4203_3323_1108_R->L 0.000199681 316 chr3:49932612:C:G 4203_3259_1087_V->L 0.000199681 316 chr3:49932641:T:G 4203_3230_1077_H->P 0.000199681 316 chr3:49932702:T:C 4203_3169_1057_I->V 0.000199681 316 chr3:49932719:A:G 4203_3152_1051_L->P 0.000199681 316 chr3:49932740:T:C 4203_3131_1044_E->G 0.000199681 316 chr3:49932768:C:T 4203_3103_1035_V->I 0.000199681 316 chr3:49932894:T:C 4203_3050_1017_Y->C 0.000199681 316 chr3:49933240:G:A 4203_2870_957_T->M 0.0131789 316 chr3:49933461:C:T 4203_2729_910_R->Q 0.00958466 316 chr3:49933468:C:G 4203_2722_908_E->Q 0.000199681 316 chr3:49933516:C:G 4203_2674_892_D->H 0.000199681 316 chr3:49933690:G:A 4203_2587_863_P->S 0.000199681 316 chr3:49933813:G:C 4203_2464_822_Q->E 0.000199681 316 chr3:49933834:C:G 4203_2443_815_E->Q 0.000599042 316 chr3:49933996:C:T 4203_2416_806_G->R 0.000199681 316 chr3:49934174:T:G 4203_2333_778_N->T 0.000399361 316 chr3:49934213:T:C 4203_2294_765_Q->R 0.000199681 316 chr3:49934313:C:A 4203_2194_732_G->W 0.000399361 316 chr3:49934714:G:A 4203_2182_728_R->W 0.000199681 316 chr3:49934810:G:A 4203_2086_696_R->W 0.000199681 316 chr3:49934990:A:C 4203_2009_670_V->G 0.000798722 316 chr3:49935008:G:A 4203_1991_664_P->L 0.000199681 316 chr3:49935039:T:C 4203_1960_654_N->D 0.000199681 316 chr3:49935495:G:C 4203_1869_623_S->R 0.000399361 316 chr3:49935514:C:T 4203_1850_617_R->Q 0.000199681 316 chr3:49935526:T:G 4203_1838_613_Q->P 0.00898562 316 chr3:49935641:G:A 4203_1723_575_H->Y 0.000199681 316 chr3:49936102:T:C 4203_1568_523_Q->R 0.416534 316 chr3:49936103:G:C 4203_1567_523_Q->E 0.000199681 316 chr3:49936337:C:G 4203_1511_504_R->P 0.000199681 316 chr3:49936608:T:C 4203_1319_440_N->S 0.0327476 316 chr3:49936626:G:A 4203_1301_434_S->L 0.00139776 316 chr3:49939814:G:A 4203_1229_410_P->L 0.00379393 316 chr3:49939830:T:C 4203_1213_405_S->G 0.000199681 316 chr3:49939993:A:T 4203_1050_350_F->L 0.000199681 316 chr3:49940025:C:T 4203_1018_340_A->T 0.000199681 316 chr3:49940064:C:T 4203_979_327_A->T 0.000998403 316 chr3:49940078:C:T 4203_965_322_R->Q 0.0203674 316 chr3:49940081:A:G 4203_962_321_L->P 0.000199681 316 chr3:49940112:C:T 4203_931_311_A->T 0.000199681 316 chr3:49940121:G:A 4203_922_308_R->C 0.000199681 316 chr3:49940127:G:A 4203_916_306_R->C 0.000199681 316 chr3:49940156:A:G 4203_887_296_L->P 0.000199681 316 chr3:49940190:C:T 4203_853_285_A->T 0.000199681 316 chr3:49940199:G:A 4203_844_282_R->W 0.000199681 316 chr3:49940274:C:T 4203_769_257_A->T 0.000199681 316 chr3:49940490:G:A 4203_553_185_R->C 0.000199681 316 chr3:49940607:G:A 4203_436_146_H->Y 0.000199681 316 chr3:49940660:G:A 4203_383_128_A->V 0.000399361 316 chr3:49940730:C:T 4203_313_105_A->T 0.000798722 316 chr3:49940742:A:C 4203_301_101_C->G 0.000199681 316 chr3:49940765:G:A 4203_278_93_T->M 0.000199681 316 chr3:49940807:T:C 4203_236_79_H->R 0.000399361 316 chr3:49940820:G:T 4203_223_75_R->S 0.000998403 316 chr3:49940858:T:C 4203_185_62_E->G 0.000199681 316 chr3:49941017:T:G 4203_26_9_Q->P 0.000199681 316 na12878 Variants: 316 chr3:49928691:T:C 4203_3583_1195_S->G 316 snyder Variants: 316 chr3:49928691:T:C 4203_3583_1195_S->G 316 chr3:49924940:T:C 4203_4003_1335_R->G 316 chr3:49936102:T:C 4203_1568_523_Q->R 317 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164078_ENST00000344206 gene_Name: RON_HUMAN 317 list of pdbs: 317 4FWW pdb_description: 08-Aug-12 X-ray 1.850 Crystal structure of the sema-psi extracellular domains of h receptor tyrosine kinase 317 3PLS pdb_description: 24-Nov-10 X-ray 2.240 Ron in complex with ligand amp-pnp 317 Zimmer Variants: 317 chr3:49928691:T:C 4056_3436_1146_S->G;GNEG=Yes;GENE=MST1R;CDSS=3 317 chr3:49924940:T:C 4056_3856_1286_R->G;GNEG=Yes;GENE=MST1R;CDSS=2 317 chr3:49936102:T:C 4056_1568_523_Q->R 317 HGMD Variants: 317 chr3:49940112:C:T 4056_931_311_A->T 317 chr3:49940517:C:T 4056_526_176_D->N 317 oneKG Variants: 317 chr3:49928978:G:A 4056_3241_1081_R->* 0.000399361 317 chr3:49929221:G:A 4056_3175_1059_R->* 0.000199681 317 chr3:49933783:G:A 4056_2494_832_R->* 0.000199681 317 chr3:49934828:G:A 4056_2068_690_Q->* 0.00299521 317 chr3:49935503:T:A 4056_1861_621_K->* 0.00399361 317 chr3:49924751:G:A 4056_4045_1349_R->W 0.000199681 317 chr3:49924771:C:T 4056_4025_1342_R->Q 0.000199681 317 chr3:49924777:C:T 4056_4019_1340_R->Q 0.000199681 317 chr3:49924895:C:T 4056_3901_1301_G->R 0.000199681 317 chr3:49924922:C:T 4056_3874_1292_V->M 0.000199681 317 chr3:49924940:T:C 4056_3856_1286_R->G 0.419129 317 chr3:49924946:T:C 4056_3850_1284_T->A 0.000199681 317 chr3:49927376:C:T 4056_3781_1261_E->K 0.000199681 317 chr3:49927394:G:A 4056_3763_1255_R->W 0.000399361 317 chr3:49927957:C:G 4056_3624_1208_E->D 0.000199681 317 chr3:49927964:G:A 4056_3617_1206_A->V 0.000199681 317 chr3:49927979:G:A 4056_3602_1201_P->L 0.000199681 317 chr3:49927997:T:C 4056_3584_1195_H->R 0.000199681 317 chr3:49928012:T:C 4056_3569_1190_Y->C 0.000399361 317 chr3:49928036:C:T 4056_3545_1182_R->H 0.000199681 317 chr3:49928691:T:C 4056_3436_1146_S->G 0.0 317 chr3:49928693:C:T 4056_3434_1145_R->H 0.00299521 317 chr3:49928694:G:A 4056_3433_1145_R->C 0.000199681 317 chr3:49928851:A:G 4056_3368_1123_F->S 0.000199681 317 chr3:49928881:G:T 4056_3338_1113_P->H 0.000199681 317 chr3:49928938:A:G 4056_3281_1094_V->A 0.000599042 317 chr3:49928951:T:C 4056_3268_1090_N->D 0.000199681 317 chr3:49928977:C:T 4056_3242_1081_R->Q 0.000199681 317 chr3:49929220:C:A 4056_3176_1059_R->L 0.000199681 317 chr3:49932612:C:G 4056_3112_1038_V->L 0.000199681 317 chr3:49932641:T:G 4056_3083_1028_H->P 0.000199681 317 chr3:49932702:T:C 4056_3022_1008_I->V,1 0.000199681 317 chr3:49932719:A:G 4056_3005_1002_L->P 0.000199681 317 chr3:49932740:T:C 4056_2984_995_E->G 0.000199681 317 chr3:49932768:C:T 4056_2956_986_V->I,1 0.000199681 317 chr3:49932894:T:C 4056_2903_968_Y->C 0.000199681 317 chr3:49933240:G:A 4056_2723_908_T->M 0.0131789 317 chr3:49933690:G:A 4056_2587_863_P->S 0.000199681 317 chr3:49933813:G:C 4056_2464_822_Q->E 0.000199681 317 chr3:49933834:C:G 4056_2443_815_E->Q 0.000599042 317 chr3:49933996:C:T 4056_2416_806_G->R 0.000199681 317 chr3:49934174:T:G 4056_2333_778_N->T 0.000399361 317 chr3:49934213:T:C 4056_2294_765_Q->R 0.000199681 317 chr3:49934313:C:A 4056_2194_732_G->W 0.000399361 317 chr3:49934714:G:A 4056_2182_728_R->W 0.000199681 317 chr3:49934810:G:A 4056_2086_696_R->W 0.000199681 317 chr3:49934990:A:C 4056_2009_670_V->G 0.000798722 317 chr3:49935008:G:A 4056_1991_664_P->L 0.000199681 317 chr3:49935039:T:C 4056_1960_654_N->D 0.000199681 317 chr3:49935495:G:C 4056_1869_623_S->R 0.000399361 317 chr3:49935514:C:T 4056_1850_617_R->Q 0.000199681 317 chr3:49935526:T:G 4056_1838_613_Q->P 0.00898562 317 chr3:49935641:G:A 4056_1723_575_H->Y 0.000199681 317 chr3:49936102:T:C 4056_1568_523_Q->R 0.416534 317 chr3:49936103:G:C 4056_1567_523_Q->E 0.000199681 317 chr3:49936337:C:G 4056_1511_504_R->P 0.000199681 317 chr3:49936608:T:C 4056_1319_440_N->S 0.0327476 317 chr3:49936626:G:A 4056_1301_434_S->L 0.00139776 317 chr3:49939814:G:A 4056_1229_410_P->L 0.00379393 317 chr3:49939830:T:C 4056_1213_405_S->G 0.000199681 317 chr3:49939993:A:T 4056_1050_350_F->L 0.000199681 317 chr3:49940025:C:T 4056_1018_340_A->T 0.000199681 317 chr3:49940064:C:T 4056_979_327_A->T 0.000998403 317 chr3:49940078:C:T 4056_965_322_R->Q 0.0203674 317 chr3:49940081:A:G 4056_962_321_L->P 0.000199681 317 chr3:49940112:C:T 4056_931_311_A->T 0.000199681 317 chr3:49940121:G:A 4056_922_308_R->C 0.000199681 317 chr3:49940127:G:A 4056_916_306_R->C 0.000199681 317 chr3:49940156:A:G 4056_887_296_L->P 0.000199681 317 chr3:49940190:C:T 4056_853_285_A->T 0.000199681 317 chr3:49940199:G:A 4056_844_282_R->W 0.000199681 317 chr3:49940274:C:T 4056_769_257_A->T 0.000199681 317 chr3:49940490:G:A 4056_553_185_R->C 0.000199681 317 chr3:49940607:G:A 4056_436_146_H->Y 0.000199681 317 chr3:49940660:G:A 4056_383_128_A->V 0.000399361 317 chr3:49940730:C:T 4056_313_105_A->T 0.000798722 317 chr3:49940742:A:C 4056_301_101_C->G 0.000199681 317 chr3:49940765:G:A 4056_278_93_T->M 0.000199681 317 chr3:49940807:T:C 4056_236_79_H->R 0.000399361 317 chr3:49940820:G:T 4056_223_75_R->S 0.000998403 317 chr3:49940858:T:C 4056_185_62_E->G 0.000199681 317 chr3:49941017:T:G 4056_26_9_Q->P 0.000199681 317 na12878 Variants: 317 chr3:49928691:T:C 4056_3436_1146_S->G 317 snyder Variants: 317 chr3:49928691:T:C 4056_3436_1146_S->G 317 chr3:49924940:T:C 4056_3856_1286_R->G 317 chr3:49936102:T:C 4056_1568_523_Q->R 318 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163635_ENST00000398590 gene_Name: ATX7_HUMAN 318 list of pdbs: 318 2KKR pdb_description: 09-Jun-10 NMR 20 Solution structure of sca7 zinc finger domain from human ata protein 318 Zimmer Variants: 318 chr3:63967900:A:G 2838_791_264_K->R 318 chr3:63982082:G:A 2838_2584_862_V->M 318 HGMD Variants: 318 chr3:63967900:A:G 2838_791_264_K->R 318 oneKG Variants: 318 chr3:63898288:C:A 2838_14_5_A->D 0.000199681 318 chr3:63898311:C:G 2838_37_13_P->A 0.000399361 318 chr3:63898372:A:C 2838_98_33_Q->P 0.000998403 318 chr3:63898497:A:G 2838_223_75_M->V 0.00459265 318 chr3:63898527:C:T 2838_253_85_P->S 0.000199681 318 chr3:63898564:T:A 2838_290_97_L->Q 0.000199681 318 chr3:63898596:G:T 2838_322_108_D->Y 0.000399361 318 chr3:63965605:T:C 2838_514_172_S->P 0.000199681 318 chr3:63965629:G:A 2838_538_180_V->I 0.000399361 318 chr3:63965675:G:A 2838_584_195_S->N 0.000399361 318 chr3:63965704:C:A 2838_613_205_R->S 0.000199681 318 chr3:63965786:G:A 2838_695_232_R->K 0.000199681 318 chr3:63965805:G:A 2838_714_238_M->I 0.000199681 318 chr3:63967900:A:G 2838_791_264_K->R 0.114617 318 chr3:63968025:A:T 2838_916_306_I->F 0.000599042 318 chr3:63968059:C:T 2838_950_317_T->I 0.00119808 318 chr3:63968083:A:G 2838_974_325_N->S 0.0201677 318 chr3:63968089:A:G 2838_980_327_N->S 0.00219649 318 chr3:63973848:C:G 2838_1209_403_D->E 0.000798722 318 chr3:63973888:G:A 2838_1249_417_A->T 0.000998403 318 chr3:63975863:G:A 2838_1373_458_C->Y 0.000199681 318 chr3:63976451:A:G 2838_1598_533_Y->C 0.000798722 318 chr3:63976484:G:A 2838_1631_544_R->H 0.000199681 318 chr3:63976489:G:A 2838_1636_546_A->T 0.019369 318 chr3:63981215:A:G 2838_1717_573_I->V 0.00998403 318 chr3:63981224:C:T 2838_1726_576_R->C 0.000199681 318 chr3:63981225:G:A 2838_1727_576_R->H 0.00119808 318 chr3:63981237:G:A 2838_1739_580_R->Q 0.000599042 318 chr3:63981248:G:A 2838_1750_584_V->M 0.000199681 318 chr3:63981386:G:A 2838_1888_630_A->T 0.000199681 318 chr3:63981398:G:A 2838_1900_634_A->T 0.000199681 318 chr3:63981399:C:T 2838_1901_634_A->V 0.000399361 318 chr3:63981401:A:T 2838_1903_635_M->L 0.000399361 318 chr3:63981444:C:T 2838_1946_649_S->L 0.0107827 318 chr3:63981624:A:G 2838_2126_709_N->S 0.000199681 318 chr3:63981738:C:G 2838_2240_747_P->R 0.000199681 318 chr3:63981756:C:G 2838_2258_753_S->C 0.000199681 318 chr3:63981933:A:C 2838_2435_812_N->T 0.000399361 318 chr3:63981949:C:A 2838_2451_817_N->K 0.000998403 318 chr3:63981977:A:G 2838_2479_827_T->A 0.00139776 318 chr3:63982017:C:T 2838_2519_840_S->L 0.000199681 318 chr3:63982037:A:C 2838_2539_847_N->H 0.000199681 318 chr3:63982059:C:T 2838_2561_854_T->I 0.000199681 318 chr3:63982082:G:A 2838_2584_862_V->M 0.4377 318 chr3:63983298:A:G 2838_2663_888_D->G 0.00119808 318 chr3:63983336:A:G 2838_2701_901_T->A 0.000199681 318 chr3:63985157:C:A 2838_2760_920_S->R 0.00159744 318 na12878 Variants: 318 chr3:63967900:A:G 2838_791_264_K->R 318 chr3:63982082:G:A 2838_2584_862_V->M 318 snyder Variants: 318 chr3:63967900:A:G 2838_791_264_K->R 319 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163635_ENST00000295900 gene_Name: ATX7_HUMAN 319 list of pdbs: 319 2KKR pdb_description: 09-Jun-10 NMR 20 Solution structure of sca7 zinc finger domain from human ata protein 319 Zimmer Variants: 319 chr3:63967900:A:G 2679_791_264_K->R 319 chr3:63982082:G:A 2679_2584_862_V->M 319 HGMD Variants: 319 chr3:63967900:A:G 2679_791_264_K->R 319 oneKG Variants: 319 chr3:63898288:C:A 2679_14_5_A->D 0.000199681 319 chr3:63898311:C:G 2679_37_13_P->A 0.000399361 319 chr3:63898372:A:C 2679_98_33_Q->P 0.000998403 319 chr3:63898497:A:G 2679_223_75_M->V 0.00459265 319 chr3:63898527:C:T 2679_253_85_P->S 0.000199681 319 chr3:63898564:T:A 2679_290_97_L->Q 0.000199681 319 chr3:63898596:G:T 2679_322_108_D->Y 0.000399361 319 chr3:63965605:T:C 2679_514_172_S->P 0.000199681 319 chr3:63965629:G:A 2679_538_180_V->I 0.000399361 319 chr3:63965675:G:A 2679_584_195_S->N 0.000399361 319 chr3:63965704:C:A 2679_613_205_R->S 0.000199681 319 chr3:63965786:G:A 2679_695_232_R->K 0.000199681 319 chr3:63965805:G:A 2679_714_238_M->I 0.000199681 319 chr3:63967900:A:G 2679_791_264_K->R 0.114617 319 chr3:63968025:A:T 2679_916_306_I->F 0.000599042 319 chr3:63968059:C:T 2679_950_317_T->I 0.00119808 319 chr3:63968083:A:G 2679_974_325_N->S 0.0201677 319 chr3:63968089:A:G 2679_980_327_N->S 0.00219649 319 chr3:63973848:C:G 2679_1209_403_D->E 0.000798722 319 chr3:63973888:G:A 2679_1249_417_A->T 0.000998403 319 chr3:63975863:G:A 2679_1373_458_C->Y 0.000199681 319 chr3:63976451:A:G 2679_1598_533_Y->C 0.000798722 319 chr3:63976484:G:A 2679_1631_544_R->H 0.000199681 319 chr3:63976489:G:A 2679_1636_546_A->T 0.019369 319 chr3:63981215:A:G 2679_1717_573_I->V 0.00998403 319 chr3:63981224:C:T 2679_1726_576_R->C 0.000199681 319 chr3:63981225:G:A 2679_1727_576_R->H 0.00119808 319 chr3:63981237:G:A 2679_1739_580_R->Q 0.000599042 319 chr3:63981248:G:A 2679_1750_584_V->M 0.000199681 319 chr3:63981386:G:A 2679_1888_630_A->T 0.000199681 319 chr3:63981398:G:A 2679_1900_634_A->T 0.000199681 319 chr3:63981399:C:T 2679_1901_634_A->V 0.000399361 319 chr3:63981401:A:T 2679_1903_635_M->L 0.000399361 319 chr3:63981444:C:T 2679_1946_649_S->L 0.0107827 319 chr3:63981624:A:G 2679_2126_709_N->S 0.000199681 319 chr3:63981738:C:G 2679_2240_747_P->R 0.000199681 319 chr3:63981756:C:G 2679_2258_753_S->C 0.000199681 319 chr3:63981933:A:C 2679_2435_812_N->T 0.000399361 319 chr3:63981949:C:A 2679_2451_817_N->K 0.000998403 319 chr3:63981977:A:G 2679_2479_827_T->A 0.00139776 319 chr3:63982017:C:T 2679_2519_840_S->L 0.000199681 319 chr3:63982037:A:C 2679_2539_847_N->H 0.000199681 319 chr3:63982059:C:T 2679_2561_854_T->I 0.000199681 319 chr3:63982082:G:A 2679_2584_862_V->M 0.4377 319 na12878 Variants: 319 chr3:63967900:A:G 2679_791_264_K->R 319 chr3:63982082:G:A 2679_2584_862_V->M 319 snyder Variants: 319 chr3:63967900:A:G 2679_791_264_K->R 320 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163635_ENST00000487717 gene_Name: ATX7_HUMAN 320 list of pdbs: 320 2KKR pdb_description: 09-Jun-10 NMR 20 Solution structure of sca7 zinc finger domain from human ata protein 320 Zimmer Variants: 320 chr3:63967900:A:G 2679_791_264_K->R 320 chr3:63982082:G:A 2679_2584_862_V->M 320 HGMD Variants: 320 chr3:63967900:A:G 2679_791_264_K->R 320 oneKG Variants: 320 chr3:63898288:C:A 2679_14_5_A->D 0.000199681 320 chr3:63898311:C:G 2679_37_13_P->A 0.000399361 320 chr3:63898372:A:C 2679_98_33_Q->P 0.000998403 320 chr3:63898497:A:G 2679_223_75_M->V 0.00459265 320 chr3:63898527:C:T 2679_253_85_P->S 0.000199681 320 chr3:63898564:T:A 2679_290_97_L->Q 0.000199681 320 chr3:63898596:G:T 2679_322_108_D->Y 0.000399361 320 chr3:63965605:T:C 2679_514_172_S->P 0.000199681 320 chr3:63965629:G:A 2679_538_180_V->I 0.000399361 320 chr3:63965675:G:A 2679_584_195_S->N 0.000399361 320 chr3:63965704:C:A 2679_613_205_R->S 0.000199681 320 chr3:63965786:G:A 2679_695_232_R->K 0.000199681 320 chr3:63965805:G:A 2679_714_238_M->I 0.000199681 320 chr3:63967900:A:G 2679_791_264_K->R 0.114617 320 chr3:63968025:A:T 2679_916_306_I->F 0.000599042 320 chr3:63968059:C:T 2679_950_317_T->I 0.00119808 320 chr3:63968083:A:G 2679_974_325_N->S 0.0201677 320 chr3:63968089:A:G 2679_980_327_N->S 0.00219649 320 chr3:63973848:C:G 2679_1209_403_D->E 0.000798722 320 chr3:63973888:G:A 2679_1249_417_A->T 0.000998403 320 chr3:63975863:G:A 2679_1373_458_C->Y 0.000199681 320 chr3:63976451:A:G 2679_1598_533_Y->C 0.000798722 320 chr3:63976484:G:A 2679_1631_544_R->H 0.000199681 320 chr3:63976489:G:A 2679_1636_546_A->T 0.019369 320 chr3:63981215:A:G 2679_1717_573_I->V 0.00998403 320 chr3:63981224:C:T 2679_1726_576_R->C 0.000199681 320 chr3:63981225:G:A 2679_1727_576_R->H 0.00119808 320 chr3:63981237:G:A 2679_1739_580_R->Q 0.000599042 320 chr3:63981248:G:A 2679_1750_584_V->M 0.000199681 320 chr3:63981386:G:A 2679_1888_630_A->T 0.000199681 320 chr3:63981398:G:A 2679_1900_634_A->T 0.000199681 320 chr3:63981399:C:T 2679_1901_634_A->V 0.000399361 320 chr3:63981401:A:T 2679_1903_635_M->L 0.000399361 320 chr3:63981444:C:T 2679_1946_649_S->L 0.0107827 320 chr3:63981624:A:G 2679_2126_709_N->S 0.000199681 320 chr3:63981738:C:G 2679_2240_747_P->R 0.000199681 320 chr3:63981756:C:G 2679_2258_753_S->C 0.000199681 320 chr3:63981933:A:C 2679_2435_812_N->T 0.000399361 320 chr3:63981949:C:A 2679_2451_817_N->K 0.000998403 320 chr3:63981977:A:G 2679_2479_827_T->A 0.00139776 320 chr3:63982017:C:T 2679_2519_840_S->L 0.000199681 320 chr3:63982037:A:C 2679_2539_847_N->H 0.000199681 320 chr3:63982059:C:T 2679_2561_854_T->I 0.000199681 320 chr3:63982082:G:A 2679_2584_862_V->M 0.4377 320 na12878 Variants: 320 chr3:63967900:A:G 2679_791_264_K->R 320 chr3:63982082:G:A 2679_2584_862_V->M 320 snyder Variants: 320 chr3:63967900:A:G 2679_791_264_K->R 321 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163635_ENST00000538065 gene_Name: ATX7_HUMAN 321 list of pdbs: 321 2KKR pdb_description: 09-Jun-10 NMR 20 Solution structure of sca7 zinc finger domain from human ata protein 321 Zimmer Variants: 321 chr3:63967900:A:G 2838_791_264_K->R 321 chr3:63982082:G:A 2838_2584_862_V->M 321 HGMD Variants: 321 chr3:63967900:A:G 2838_791_264_K->R 321 oneKG Variants: 321 chr3:63898288:C:A 2838_14_5_A->D 0.000199681 321 chr3:63898311:C:G 2838_37_13_P->A 0.000399361 321 chr3:63898372:A:C 2838_98_33_Q->P 0.000998403 321 chr3:63898497:A:G 2838_223_75_M->V 0.00459265 321 chr3:63898527:C:T 2838_253_85_P->S 0.000199681 321 chr3:63898564:T:A 2838_290_97_L->Q 0.000199681 321 chr3:63898596:G:T 2838_322_108_D->Y 0.000399361 321 chr3:63965605:T:C 2838_514_172_S->P 0.000199681 321 chr3:63965629:G:A 2838_538_180_V->I 0.000399361 321 chr3:63965675:G:A 2838_584_195_S->N 0.000399361 321 chr3:63965704:C:A 2838_613_205_R->S 0.000199681 321 chr3:63965786:G:A 2838_695_232_R->K 0.000199681 321 chr3:63965805:G:A 2838_714_238_M->I 0.000199681 321 chr3:63967900:A:G 2838_791_264_K->R 0.114617 321 chr3:63968025:A:T 2838_916_306_I->F 0.000599042 321 chr3:63968059:C:T 2838_950_317_T->I 0.00119808 321 chr3:63968083:A:G 2838_974_325_N->S 0.0201677 321 chr3:63968089:A:G 2838_980_327_N->S 0.00219649 321 chr3:63973848:C:G 2838_1209_403_D->E 0.000798722 321 chr3:63973888:G:A 2838_1249_417_A->T 0.000998403 321 chr3:63975863:G:A 2838_1373_458_C->Y 0.000199681 321 chr3:63976451:A:G 2838_1598_533_Y->C 0.000798722 321 chr3:63976484:G:A 2838_1631_544_R->H 0.000199681 321 chr3:63976489:G:A 2838_1636_546_A->T 0.019369 321 chr3:63981215:A:G 2838_1717_573_I->V 0.00998403 321 chr3:63981224:C:T 2838_1726_576_R->C 0.000199681 321 chr3:63981225:G:A 2838_1727_576_R->H 0.00119808 321 chr3:63981237:G:A 2838_1739_580_R->Q 0.000599042 321 chr3:63981248:G:A 2838_1750_584_V->M 0.000199681 321 chr3:63981386:G:A 2838_1888_630_A->T 0.000199681 321 chr3:63981398:G:A 2838_1900_634_A->T 0.000199681 321 chr3:63981399:C:T 2838_1901_634_A->V 0.000399361 321 chr3:63981401:A:T 2838_1903_635_M->L 0.000399361 321 chr3:63981444:C:T 2838_1946_649_S->L 0.0107827 321 chr3:63981624:A:G 2838_2126_709_N->S 0.000199681 321 chr3:63981738:C:G 2838_2240_747_P->R 0.000199681 321 chr3:63981756:C:G 2838_2258_753_S->C 0.000199681 321 chr3:63981933:A:C 2838_2435_812_N->T 0.000399361 321 chr3:63981949:C:A 2838_2451_817_N->K 0.000998403 321 chr3:63981977:A:G 2838_2479_827_T->A 0.00139776 321 chr3:63982017:C:T 2838_2519_840_S->L 0.000199681 321 chr3:63982037:A:C 2838_2539_847_N->H 0.000199681 321 chr3:63982059:C:T 2838_2561_854_T->I 0.000199681 321 chr3:63982082:G:A 2838_2584_862_V->M 0.4377 321 chr3:63983298:A:G 2838_2663_888_D->G 0.00119808 321 chr3:63983336:A:G 2838_2701_901_T->A 0.000199681 321 chr3:63985157:C:A 2838_2760_920_S->R 0.00159744 321 na12878 Variants: 321 chr3:63967900:A:G 2838_791_264_K->R 321 chr3:63982082:G:A 2838_2584_862_V->M 321 snyder Variants: 321 chr3:63967900:A:G 2838_791_264_K->R 322 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163635_ENST00000484332 gene_Name: ATX7_HUMAN 322 list of pdbs: 322 2KKR pdb_description: 09-Jun-10 NMR 20 Solution structure of sca7 zinc finger domain from human ata protein 322 Zimmer Variants: 322 chr3:63967900:A:G 2244_356_119_K->R;HUB=PPI;GENE=ATXN7;CDSS=3 322 chr3:63982082:G:A 2244_2149_717_V->M;HUB=PPI;GENE=ATXN7;CDSS=2 322 HGMD Variants: 322 chr3:63967900:A:G 2244_356_119_K->R 322 oneKG Variants: 322 chr3:63965605:T:C 2244_79_27_S->P 0.000199681 322 chr3:63965629:G:A 2244_103_35_V->I 0.000399361 322 chr3:63965675:G:A 2244_149_50_S->N 0.000399361 322 chr3:63965704:C:A 2244_178_60_R->S 0.000199681 322 chr3:63965786:G:A 2244_260_87_R->K 0.000199681 322 chr3:63965805:G:A 2244_279_93_M->I 0.000199681 322 chr3:63967900:A:G 2244_356_119_K->R 0.114617 322 chr3:63968025:A:T 2244_481_161_I->F 0.000599042 322 chr3:63968059:C:T 2244_515_172_T->I 0.00119808 322 chr3:63968083:A:G 2244_539_180_N->S 0.0201677 322 chr3:63968089:A:G 2244_545_182_N->S 0.00219649 322 chr3:63973848:C:G 2244_774_258_D->E 0.000798722 322 chr3:63973888:G:A 2244_814_272_A->T 0.000998403 322 chr3:63975863:G:A 2244_938_313_C->Y 0.000199681 322 chr3:63976451:A:G 2244_1163_388_Y->C 0.000798722 322 chr3:63976484:G:A 2244_1196_399_R->H 0.000199681 322 chr3:63976489:G:A 2244_1201_401_A->T 0.019369 322 chr3:63981215:A:G 2244_1282_428_I->V 0.00998403 322 chr3:63981224:C:T 2244_1291_431_R->C 0.000199681 322 chr3:63981225:G:A 2244_1292_431_R->H 0.00119808 322 chr3:63981237:G:A 2244_1304_435_R->Q 0.000599042 322 chr3:63981248:G:A 2244_1315_439_V->M 0.000199681 322 chr3:63981386:G:A 2244_1453_485_A->T 0.000199681 322 chr3:63981398:G:A 2244_1465_489_A->T 0.000199681 322 chr3:63981399:C:T 2244_1466_489_A->V 0.000399361 322 chr3:63981401:A:T 2244_1468_490_M->L 0.000399361 322 chr3:63981444:C:T 2244_1511_504_S->L 0.0107827 322 chr3:63981624:A:G 2244_1691_564_N->S 0.000199681 322 chr3:63981738:C:G 2244_1805_602_P->R 0.000199681 322 chr3:63981756:C:G 2244_1823_608_S->C 0.000199681 322 chr3:63981933:A:C 2244_2000_667_N->T 0.000399361 322 chr3:63981949:C:A 2244_2016_672_N->K 0.000998403 322 chr3:63981977:A:G 2244_2044_682_T->A 0.00139776 322 chr3:63982017:C:T 2244_2084_695_S->L 0.000199681 322 chr3:63982037:A:C 2244_2104_702_N->H 0.000199681 322 chr3:63982059:C:T 2244_2126_709_T->I 0.000199681 322 chr3:63982082:G:A 2244_2149_717_V->M 0.4377 322 na12878 Variants: 322 chr3:63967900:A:G 2244_356_119_K->R 322 chr3:63982082:G:A 2244_2149_717_V->M 322 snyder Variants: 322 chr3:63967900:A:G 2244_356_119_K->R 323 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138796_ENST00000603302 gene_Name: HCDH_HUMAN 323 list of pdbs: 323 3RQS pdb_description: 25-May-11 X-ray 2.000 Crystal structure of human l-3- hydroxyacyl-coa dehydrogenas (ec1.1.1.35) from mitochondria at the resolution 2.0 a, nor structural genomics consortium target hr487, mitochondrial partnership 323 3HAD pdb_description: 12-Jan-00 X-ray 2.000 Biochemical characterization and structure determination of heart short chain l-3-hydroxyacyl coa dehydrogenase provide into catalytic mechanism 323 2HDH pdb_description: 12-May-99 X-ray 2.200 Biochemical characterization and structure determination of heart short chain l-3-hydroxyacyl coa dehydrogenase provide into catalytic mechanism 323 1M76 pdb_description: 03-Feb-04 X-ray 2.150 Crystal structure of the s137c mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD and acetoacetyl-coa 323 1M75 pdb_description: 03-Feb-04 X-ray 2.300 Crystal structure of the n208s mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD and acetoacetyl-coa 323 1LSO pdb_description: 03-Feb-04 X-ray 2.600 Crystal structure of the s137a mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD 323 1LSJ pdb_description: 03-Feb-04 X-ray 2.500 Crystal structure of the e110q mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD 323 1IL0 pdb_description: 07-Nov-01 X-ray 2.200 X-ray crystal structure of the e170q mutant of human l-3- hydroxyacyl-coa dehydrogenase 323 1F17 pdb_description: 27-Sep-00 X-ray 2.300 L-3-hydroxyacyl-coa dehydrogenase complexed with nadh 323 1F14 pdb_description: 27-Sep-00 X-ray 2.300 L-3-hydroxyacyl-coa dehydrogenase (apo) 323 1F12 pdb_description: 27-Sep-00 X-ray 2.400 L-3-hydroxyacyl-coa dehydrogenase complexed with 3- hydroxybutyryl-coa 323 1F0Y pdb_description: 01-Sep-00 X-ray 1.800 L-3-hydroxyacyl-coa dehydrogenase complexed with acetoacetyl-coa and NAD+ 323 Zimmer Variants: 323 chr4:108931039:T:C 996_257_86_L->P 323 HGMD Variants: 323 chr4:108940763:C:T 996_487_163_Q->* 323 chr4:108948913:C:T 996_706_236_R->* 323 chr4:108911189:G:C 996_101_34_G->A 323 chr4:108911206:G:A 996_118_40_A->T 323 chr4:108930952:A:G 996_170_57_D->G 323 chr4:108930953:C:A 996_171_57_D->E 323 chr4:108935731:A:G 996_406_136_K->E 323 chr4:108944645:A:G 996_562_188_M->V 323 chr4:108948883:T:C 996_676_226_Y->H 323 chr4:108954395:C:T 996_824_275_P->L 323 chr4:108955475:G:A 996_958_320_G->S 323 oneKG Variants: 323 chr4:108953510:C:A,T 996_737_246_S->*,2 0.000399361 323 chr4:108911140:G:T 996_52_18_A->S 0.000199681 323 chr4:108911187:C:G 996_99_33_I->M 0.00119808 323 chr4:108931039:T:C 996_257_86_L->P 0.13099 323 chr4:108935599:T:A 996_274_92_F->I 0.000199681 323 chr4:108935600:T:G 996_275_92_F->C 0.00259585 323 chr4:108935618:G:T 996_293_98_S->I 0.000199681 323 chr4:108935650:G:A 996_325_109_V->I 0.000199681 323 chr4:108940732:G:T 996_456_152_Q->H 0.000599042 323 chr4:108940802:C:T 996_526_176_P->S 0.000199681 323 chr4:108944697:G:C 996_614_205_G->A 0.00139776 323 chr4:108948850:C:A 996_643_215_P->T 0.00159744 323 chr4:108948869:G:A 996_662_221_R->H 0.00339457 323 chr4:108953486:T:G 996_713_238_F->C 0.000199681 323 chr4:108953487:C:G 996_714_238_F->L 0.000199681 323 chr4:108953492:C:T 996_719_240_T->M 0.00419329 323 chr4:108953510:C:A,T 996_737_246_S->L 0.000399361 323 chr4:108954431:C:T 996_860_287_T->M 0.000199681 323 chr4:108954442:G:A 996_871_291_V->M 0.000199681 323 chr4:108955437:G:C 996_920_307_S->T 0.000199681 323 chr4:108955449:A:G 996_932_311_N->S 0.00658946 323 chr4:108955475:G:A 996_958_320_G->S 0.000199681 323 chr4:108955476:G:T 996_959_320_G->V 0.000199681 323 na12878 Variants: 323 chr4:108931039:T:C 996_257_86_L->P 323 snyder Variants: 323 chr4:108931039:T:C 996_257_86_L->P 324 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138796_ENST00000309522 gene_Name: HCDH_HUMAN 324 list of pdbs: 324 3RQS pdb_description: 25-May-11 X-ray 2.000 Crystal structure of human l-3- hydroxyacyl-coa dehydrogenas (ec1.1.1.35) from mitochondria at the resolution 2.0 a, nor structural genomics consortium target hr487, mitochondrial partnership 324 3HAD pdb_description: 12-Jan-00 X-ray 2.000 Biochemical characterization and structure determination of heart short chain l-3-hydroxyacyl coa dehydrogenase provide into catalytic mechanism 324 2HDH pdb_description: 12-May-99 X-ray 2.200 Biochemical characterization and structure determination of heart short chain l-3-hydroxyacyl coa dehydrogenase provide into catalytic mechanism 324 1M76 pdb_description: 03-Feb-04 X-ray 2.150 Crystal structure of the s137c mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD and acetoacetyl-coa 324 1M75 pdb_description: 03-Feb-04 X-ray 2.300 Crystal structure of the n208s mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD and acetoacetyl-coa 324 1LSO pdb_description: 03-Feb-04 X-ray 2.600 Crystal structure of the s137a mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD 324 1LSJ pdb_description: 03-Feb-04 X-ray 2.500 Crystal structure of the e110q mutant of l-3-hydroxyacyl- coa dehydrogenase in complex with NAD 324 1IL0 pdb_description: 07-Nov-01 X-ray 2.200 X-ray crystal structure of the e170q mutant of human l-3- hydroxyacyl-coa dehydrogenase 324 1F17 pdb_description: 27-Sep-00 X-ray 2.300 L-3-hydroxyacyl-coa dehydrogenase complexed with nadh 324 1F14 pdb_description: 27-Sep-00 X-ray 2.300 L-3-hydroxyacyl-coa dehydrogenase (apo) 324 1F12 pdb_description: 27-Sep-00 X-ray 2.400 L-3-hydroxyacyl-coa dehydrogenase complexed with 3- hydroxybutyryl-coa 324 1F0Y pdb_description: 01-Sep-00 X-ray 1.800 L-3-hydroxyacyl-coa dehydrogenase complexed with acetoacetyl-coa and NAD+ 324 Zimmer Variants: 324 chr4:108931039:T:C 945_257_86_L->P 324 HGMD Variants: 324 chr4:108940763:C:T 945_487_163_Q->* 324 chr4:108948913:C:T 945_706_236_R->* 324 chr4:108911189:G:C 945_101_34_G->A 324 chr4:108911206:G:A 945_118_40_A->T 324 chr4:108930952:A:G 945_170_57_D->G 324 chr4:108930953:C:A 945_171_57_D->E 324 chr4:108935731:A:G 945_406_136_K->E 324 chr4:108944645:A:G 945_562_188_M->V 324 chr4:108948883:T:C 945_676_226_Y->H 324 chr4:108954395:C:T 945_773_258_P->L 324 chr4:108955475:G:A 945_907_303_G->S 324 oneKG Variants: 324 chr4:108911140:G:T 945_52_18_A->S 0.000199681 324 chr4:108911187:C:G 945_99_33_I->M 0.00119808 324 chr4:108931039:T:C 945_257_86_L->P 0.13099 324 chr4:108935599:T:A 945_274_92_F->I 0.000199681 324 chr4:108935600:T:G 945_275_92_F->C 0.00259585 324 chr4:108935618:G:T 945_293_98_S->I 0.000199681 324 chr4:108935650:G:A 945_325_109_V->I 0.000199681 324 chr4:108940732:G:T 945_456_152_Q->H 0.000599042 324 chr4:108940802:C:T 945_526_176_P->S 0.000199681 324 chr4:108944697:G:C 945_614_205_G->A 0.00139776 324 chr4:108948850:C:A 945_643_215_P->T 0.00159744 324 chr4:108948869:G:A 945_662_221_R->H 0.00339457 324 chr4:108954431:C:T 945_809_270_T->M 0.000199681 324 chr4:108954442:G:A 945_820_274_V->M 0.000199681 324 chr4:108955437:G:C 945_869_290_S->T 0.000199681 324 chr4:108955449:A:G 945_881_294_N->S 0.00658946 324 chr4:108955475:G:A 945_907_303_G->S 0.000199681 324 chr4:108955476:G:T 945_908_303_G->V 0.000199681 324 na12878 Variants: 324 chr4:108931039:T:C 945_257_86_L->P 324 snyder Variants: 324 chr4:108931039:T:C 945_257_86_L->P 325 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138735_ENST00000264805 gene_Name: PDE5A_HUMAN 325 list of pdbs: 325 4G2Y pdb_description: 26-Jun-13 X-ray 2.400 Crystal structure of pde5a complexed with its inhibitor 325 4G2W pdb_description: 26-Jun-13 X-ray 2.280 Crystal structure of pde5a in complex with its inhibitor 325 3TSF pdb_description: 19-Sep-12 X-ray 2.440 Crystal structure of the pde5a1 catalytic domain in complex inhibitors 325 3TSE pdb_description: 19-Sep-12 X-ray 2.140 Crystal structure of the pde5a1 catalytic domain in complex inhibitors 325 3TGG pdb_description: 25-Jan-12 X-ray 1.910 A novel series of potent and selective pde5 inhibitor2 325 3TGE pdb_description: 09-Nov-11 X-ray 1.960 A novel series of potent and selective pde5 inhibitor1 325 3SIE pdb_description: 24-Aug-11 X-ray 1.930 Crystal structure of the pde5a1 catalytic domain in complex inhibitors 325 3SHZ pdb_description: 24-Aug-11 X-ray 2.450 Crystal structure of the pde5a1 catalytic domain in complex inhibitors 325 3SHY pdb_description: 24-Aug-11 X-ray 2.650 Crystal structure of the pde5a1 catalytic domain in complex inhibitors 325 3MF0 pdb_description: 22-Sep-10 X-ray 3.100 Crystal structure of pde5a gaf domain (89-518) 325 3LFV pdb_description: 22-Sep-10 X-ray 2.800 Crystal structure of unliganded pde5a gaf domain 325 3JWQ pdb_description: 13-Oct-09 X-ray 2.870 Crystal structure of chimeric pde5/pde6 catalytic domain com with sildenafil 325 3BJC pdb_description: 29-Apr-08 X-ray 2.000 Crystal structure of the pde5a catalytic domain in complex with a novel inhibitor 325 3B2R pdb_description: 20-May-08 X-ray 2.070 Crystal structure of pde5a1 catalytic domain in complex with vardenafil 325 2XSS pdb_description: 18-May-11 X-ray 2.500 Crystal structure of gafb from the human phosphodiesterase 5 325 2H44 pdb_description: 06-Jun-06 X-ray 1.800 Crystal structure of pde5a1 in complex with icarisid ii 325 2H42 pdb_description: 06-Jun-06 X-ray 2.300 Crystal structure of pde5 in complex with sildenafil 325 2H40 pdb_description: 06-Jun-06 X-ray 1.850 Crystal structure of the catalytic domain of unliganded pde5 325 1XP0 pdb_description: 14-Dec-04 X-ray 1.790 Catalytic domain of human phosphodiesterase 5a in complex wi vardenafil 325 1XOZ pdb_description: 14-Dec-04 X-ray 1.370 Catalytic domain of human phosphodiesterase 5a in complex with tadalafil 325 1UHO pdb_description: 09-Jul-04 X-ray 2.500 Crystal structure of human phosphodiesterase 5 complexed with vardenafil(levitra) 325 1UDU pdb_description: 11-May-04 X-ray 2.830 Crystal structure of human phosphodiesterase 5 complexed with tadalafil(cialis) 325 1UDT pdb_description: 11-May-04 X-ray 2.300 Crystal structure of human phosphodiesterase 5 complexed with sildenafil(viagra) 325 1TBF pdb_description: 03-Aug-04 X-ray 1.300 Catalytic domain of human phosphodiesterase 5a in complex wi sildenafil 325 1T9S pdb_description: 03-Aug-04 X-ray 2.000 Catalytic domain of human phosphodiesterase 5a in complex wi 325 1T9R pdb_description: 03-Aug-04 X-ray 2.100 Catalytic domain of human phosphodiesterase 5a 325 1RKP pdb_description: 30-Mar-04 X-ray 2.050 Crystal structure of pde5a1-ibmx 325 3HDZ pdb_description: 07-Jul-09 X-ray 1.800 Identification, synthesis, and sar of amino substituted pyrido[3,2b]pryaziones as potent and selective pde5 inhibitors 325 3HC8 pdb_description: 07-Jul-09 X-ray 1.790 Investigation of aminopyridiopyrazinones as pde5 inhibitors: evaluation of modifications to the central ring system. 325 2CHM pdb_description: 08-Jun-06 X-ray 1.600 Crystal structure of n2 substituted pyrazolo pyrimidinones- a flipped binding mode in pde5 325 3JWR pdb_description: 13-Oct-09 X-ray 2.990 Crystal structure of chimeric pde5/pde6 catalytic domain complexed with 3-isobutyl-1-methylxanthine (ibmx) and pde6 gamma-subunit inhibitory peptide 70-87. 325 Zimmer Variants: 325 chr4:120528327:G:A 2502_152_51_A->V 325 HGMD Variants: 325 chr4:120548312:T:A 2502_19_7_K->* 325 oneKG Variants: 325 chr4:120419806:G:A 2502_2452_818_Q->* 0.000599042 325 chr4:120419763:C:T 2502_2495_832_R->Q 0.000199681 325 chr4:120419775:C:T 2502_2483_828_G->D 0.000199681 325 chr4:120419776:C:T 2502_2482_828_G->S 0.00439297 325 chr4:120422327:C:G 2502_2362_788_E->Q 0.000199681 325 chr4:120422360:C:G 2502_2329_777_G->R 0.000199681 325 chr4:120422374:G:T 2502_2315_772_P->Q 0.000199681 325 chr4:120423738:T:A 2502_2278_760_T->S 0.000199681 325 chr4:120423809:A:G 2502_2207_736_I->T 0.000399361 325 chr4:120425748:C:G 2502_2148_716_M->I 0.000199681 325 chr4:120427049:T:A 2502_2102_701_Q->L 0.000199681 325 chr4:120427050:G:T 2502_2101_701_Q->K 0.000199681 325 chr4:120427058:C:T 2502_2093_698_R->K 0.00219649 325 chr4:120428811:A:C 2502_2011_671_L->V 0.000199681 325 chr4:120440240:C:T 2502_1834_612_D->N 0.000199681 325 chr4:120440278:A:G 2502_1796_599_L->P 0.00519169 325 chr4:120442131:C:A 2502_1738_580_A->S 0.000199681 325 chr4:120446753:C:T 2502_1604_535_R->Q 0.000199681 325 chr4:120446754:G:A 2502_1603_535_R->W 0.000399361 325 chr4:120446811:C:A 2502_1546_516_D->Y 0.000199681 325 chr4:120446849:G:A 2502_1508_503_A->V 0.000199681 325 chr4:120463748:T:G 2502_1312_438_K->Q 0.00798722 325 chr4:120473707:A:G 2502_1268_423_I->T 0.000399361 325 chr4:120474891:C:T 2502_1084_362_A->T 0.000199681 325 chr4:120481454:G:A 2502_1070_357_T->I 0.000199681 325 chr4:120484001:T:G 2502_992_331_D->A 0.000199681 325 chr4:120484034:A:C 2502_959_320_M->R 0.000199681 325 chr4:120484109:G:C 2502_884_295_A->G 0.000199681 325 chr4:120488257:C:G 2502_748_250_G->R 0.000399361 325 chr4:120517766:T:A 2502_617_206_D->V 0.000199681 325 chr4:120528064:A:C 2502_415_139_S->A 0.0345447 325 chr4:120528115:C:T 2502_364_122_D->N 0.000199681 325 chr4:120528126:G:C 2502_353_118_S->C 0.000399361 325 chr4:120528178:G:C 2502_301_101_H->D 0.000199681 325 chr4:120528223:A:G 2502_256_86_S->P 0.000399361 325 chr4:120528249:T:A 2502_230_77_E->V 0.00938498 325 chr4:120528256:C:T 2502_223_75_D->N 0.000399361 325 chr4:120528265:C:G 2502_214_72_V->L 0.000199681 325 chr4:120528327:G:A 2502_152_51_A->V 0.189896 325 chr4:120528342:C:T 2502_137_46_R->H 0.000399361 325 chr4:120528347:A:T 2502_132_44_S->R 0.000199681 325 chr4:120528397:C:T 2502_82_28_E->K 0.000199681 325 chr4:120548323:G:T 2502_8_3_P->H 0.000199681 325 na12878 Variants: 325 chr4:120528327:G:A 2502_152_51_A->V 325 snyder Variants: 325 chr4:120528327:G:A 2502_152_51_A->V 326 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198589_ENST00000510413 gene_Name: LRBA_HUMAN 326 list of pdbs: 326 1T77 pdb_description: 21-Dec-04 X-ray 2.400 Crystal structure of the ph-beach domains of human lrba/bgl 326 Zimmer Variants: 326 chr4:151199080:G:A 8556_8390_2797_S->L 326 chr4:151207127:C:T 8556_8074_2692_A->T 326 HGMD Variants: 326 chr4:151749456:G:A 8556_5047_1683_R->* 326 chr4:151817581:G:A 8556_2032_678_Q->* 326 chr4:151935620:C:A 8556_175_59_E->* 326 chr4:151223857:A:C 8556_7937_2646_I->S 326 oneKG Variants: 326 chr4:151818932:G:A 8556_1963_655_R->* 0.000199681 326 chr4:151186885:T:G 8556_8545_2849_T->P 0.00658946 326 chr4:151186906:G:A 8556_8524_2842_R->W 0.000199681 326 chr4:151186918:T:C 8556_8512_2838_N->D 0.000199681 326 chr4:151199009:G:C 8556_8461_2821_Q->E 0.000199681 326 chr4:151199012:C:T 8556_8458_2820_D->N 0.000399361 326 chr4:151199033:G:A 8556_8437_2813_R->W 0.000199681 326 chr4:151199070:C:G 8556_8400_2800_K->N 0.00159744 326 chr4:151199080:G:A 8556_8390_2797_S->L 0.142173 326 chr4:151199155:G:A 8556_8315_2772_A->V 0.000199681 326 chr4:151203684:A:G 8556_8231_2744_I->T 0.000199681 326 chr4:151203694:G:A 8556_8221_2741_H->Y 0.000199681 326 chr4:151203718:G:A 8556_8197_2733_L->F 0.000199681 326 chr4:151207098:C:G 8556_8103_2701_L->F 0.0121805 326 chr4:151207117:G:A 8556_8084_2695_A->V 0.000199681 326 chr4:151207126:G:A 8556_8075_2692_A->V 0.000199681 326 chr4:151207127:C:T 8556_8074_2692_A->T 0.162141 326 chr4:151223833:G:C 8556_7961_2654_T->S 0.000199681 326 chr4:151223842:C:T 8556_7952_2651_R->H 0.000199681 326 chr4:151231387:C:G 8556_7843_2615_D->H 0.000199681 326 chr4:151231395:T:C 8556_7835_2612_Y->C 0.000199681 326 chr4:151231411:T:G 8556_7819_2607_K->Q 0.000199681 326 chr4:151231464:C:T 8556_7766_2589_C->Y 0.000199681 326 chr4:151236719:G:A 8556_7687_2563_L->F 0.000199681 326 chr4:151242402:G:C 8556_7571_2524_A->G 0.000199681 326 chr4:151242403:C:T 8556_7570_2524_A->T 0.000399361 326 chr4:151242409:T:G 8556_7564_2522_T->P 0.00199681 326 chr4:151247049:G:C 8556_7364_2455_A->G 0.000798722 326 chr4:151336607:C:T 8556_7177_2393_V->I 0.000199681 326 chr4:151336669:T:C 8556_7115_2372_D->G 0.000199681 326 chr4:151336707:C:T 8556_7077_2359_M->I 0.000199681 326 chr4:151356746:T:C 8556_7036_2346_I->V 0.000199681 326 chr4:151356766:C:A 8556_7016_2339_S->I 0.00239617 326 chr4:151357910:G:T 8556_6887_2296_T->N 0.000599042 326 chr4:151357970:C:T 8556_6827_2276_R->H 0.000199681 326 chr4:151392781:A:G 8556_6662_2221_I->T 0.00139776 326 chr4:151408908:G:C 8556_6527_2176_T->R 0.000599042 326 chr4:151408924:G:A 8556_6511_2171_R->C 0.000199681 326 chr4:151408963:C:T 8556_6472_2158_D->N 0.000399361 326 chr4:151509208:C:T 8556_6322_2108_D->N 0.000199681 326 chr4:151509297:G:A 8556_6233_2078_P->L 0.000199681 326 chr4:151511895:C:T 8556_6163_2055_V->M 0.00119808 326 chr4:151512002:T:C 8556_6056_2019_E->G 0.000399361 326 chr4:151520204:C:T 8556_6001_2001_G->R 0.000199681 326 chr4:151520216:G:A 8556_5989_1997_R->C 0.0133786 326 chr4:151520234:G:A 8556_5971_1991_R->C 0.000199681 326 chr4:151520264:G:A 8556_5941_1981_R->C 0.000199681 326 chr4:151520282:G:A 8556_5923_1975_R->C 0.000199681 326 chr4:151604790:C:T 8556_5834_1945_R->H 0.000199681 326 chr4:151604832:T:A 8556_5792_1931_D->V 0.000399361 326 chr4:151656447:T:C 8556_5717_1906_Q->R 0.000199681 326 chr4:151656501:A:G 8556_5663_1888_M->T 0.000199681 326 chr4:151729532:G:C 8556_5324_1775_A->G 0.000199681 326 chr4:151729542:A:G 8556_5314_1772_S->P 0.000399361 326 chr4:151749354:C:T 8556_5149_1717_V->M 0.00119808 326 chr4:151749419:A:G 8556_5084_1695_V->A 0.000199681 326 chr4:151749428:C:T 8556_5075_1692_G->E 0.000199681 326 chr4:151749473:T:C 8556_5030_1677_N->S 0.00459265 326 chr4:151749483:T:C 8556_5020_1674_K->E 0.000199681 326 chr4:151749548:G:A 8556_4955_1652_P->L 0.000599042 326 chr4:151749554:T:C 8556_4949_1650_K->R 0.000199681 326 chr4:151749561:C:A 8556_4942_1648_V->F 0.000199681 326 chr4:151749585:C:T 8556_4918_1640_V->M 0.000199681 326 chr4:151749738:C:G 8556_4765_1589_A->P 0.000199681 326 chr4:151749744:T:C 8556_4759_1587_T->A 0.000199681 326 chr4:151752978:A:G 8556_4720_1574_S->P 0.000199681 326 chr4:151753024:C:A 8556_4674_1558_R->S 0.000199681 326 chr4:151753107:A:C 8556_4591_1531_F->V 0.00179712 326 chr4:151765287:T:C 8556_4534_1512_I->V 0.000199681 326 chr4:151765814:G:A 8556_4457_1486_A->V 0.000399361 326 chr4:151770104:G:T 8556_4205_1402_A->D 0.000199681 326 chr4:151770138:T:A 8556_4171_1391_N->Y 0.000199681 326 chr4:151770581:G:A 8556_4151_1384_S->L 0.000199681 326 chr4:151770638:A:G 8556_4094_1365_M->T 0.000199681 326 chr4:151771885:A:G 8556_3995_1332_M->T 0.000199681 326 chr4:151771919:C:T 8556_3961_1321_D->N 0.000399361 326 chr4:151771925:G:C 8556_3955_1319_L->V 0.000199681 326 chr4:151771951:T:C 8556_3929_1310_N->S 0.000399361 326 chr4:151771956:C:A 8556_3924_1308_E->D 0.000199681 326 chr4:151771978:G:C 8556_3902_1301_S->C 0.000199681 326 chr4:151771981:C:A 8556_3899_1300_R->I 0.000599042 326 chr4:151772006:C:T 8556_3874_1292_V->I 0.00978435 326 chr4:151772021:T:C 8556_3859_1287_I->V 0.00159744 326 chr4:151773057:G:C 8556_3805_1269_P->A 0.000199681 326 chr4:151773098:C:G 8556_3764_1255_R->T 0.000199681 326 chr4:151773111:T:C 8556_3751_1251_T->A 0.000199681 326 chr4:151773119:T:C 8556_3743_1248_N->S 0.000599042 326 chr4:151773173:C:T 8556_3689_1230_G->D 0.00738818 326 chr4:151773270:G:T 8556_3592_1198_Q->K 0.000199681 326 chr4:151773294:T:C 8556_3568_1190_M->V 0.00299521 326 chr4:151773360:C:G 8556_3502_1168_D->H 0.000199681 326 chr4:151773455:G:A 8556_3407_1136_P->L 0.000399361 326 chr4:151773470:T:C 8556_3392_1131_D->G 0.00119808 326 chr4:151773489:G:C 8556_3373_1125_L->V 0.000199681 326 chr4:151773512:C:A 8556_3350_1117_G->V 0.00439297 326 chr4:151773531:C:A 8556_3331_1111_V->L 0.00419329 326 chr4:151773593:G:C 8556_3269_1090_A->G 0.203075 326 chr4:151773677:G:A 8556_3185_1062_S->F 0.000399361 326 chr4:151773700:T:C 8556_3162_1054_I->M 0.000199681 326 chr4:151773798:C:T 8556_3064_1022_E->K 0.000798722 326 chr4:151773921:C:T 8556_2941_981_V->I 0.000199681 326 chr4:151773935:G:A 8556_2927_976_T->M 0.000199681 326 chr4:151773951:A:G 8556_2911_971_S->P 0.000199681 326 chr4:151773983:C:G 8556_2879_960_G->A 0.000199681 326 chr4:151774022:A:G 8556_2840_947_I->T 0.000199681 326 chr4:151788915:C:T 8556_2674_892_A->T 0.00459265 326 chr4:151789392:G:A 8556_2515_839_R->C 0.000199681 326 chr4:151789404:T:C 8556_2503_835_S->G 0.000399361 326 chr4:151789431:G:T 8556_2476_826_L->I 0.000199681 326 chr4:151789441:A:C 8556_2466_822_I->M 0.000998403 326 chr4:151791682:T:C 8556_2444_815_N->S 0.000998403 326 chr4:151791710:C:A 8556_2416_806_D->Y 0.000199681 326 chr4:151792516:G:C 8556_2348_783_T->R 0.000199681 326 chr4:151792545:C:T 8556_2319_773_M->I 0.000399361 326 chr4:151792589:T:G 8556_2275_759_M->L 0.00179712 326 chr4:151793864:C:T 8556_2209_737_V->I 0.000798722 326 chr4:151793903:T:C 8556_2170_724_I->V 0.00958466 326 chr4:151814205:G:A 8556_2164_722_R->C 0.000399361 326 chr4:151814257:C:T 8556_2112_704_M->I 0.000998403 326 chr4:151817590:C:T 8556_2023_675_D->N 0.000199681 326 chr4:151818931:C:T 8556_1964_655_R->Q 0.000199681 326 chr4:151821240:T:C 8556_1885_629_N->D 0.000199681 326 chr4:151821269:T:C 8556_1856_619_H->R 0.000199681 326 chr4:151821300:G:A 8556_1825_609_R->W 0.000199681 326 chr4:151827510:G:A 8556_1541_514_A->V 0.000998403 326 chr4:151827538:T:C 8556_1513_505_I->V 0.00499201 326 chr4:151829571:T:C 8556_1408_470_I->V 0.000199681 326 chr4:151829580:T:C 8556_1399_467_M->V 0.000599042 326 chr4:151829921:A:G 8556_1250_417_I->T 0.000199681 326 chr4:151829982:C:T 8556_1189_397_D->N 0.000199681 326 chr4:151835354:C:A 8556_1154_385_G->V 0.000399361 326 chr4:151836779:C:G 8556_995_332_W->S 0.000199681 326 chr4:151837660:G:C 8556_787_263_L->V 0.000199681 326 chr4:151837778:T:C 8556_758_253_Y->C 0.000199681 326 chr4:151837787:T:A 8556_749_250_D->V 0.000199681 326 chr4:151837815:G:C 8556_721_241_P->A 0.000199681 326 chr4:151837844:A:C 8556_692_231_F->C 0.000199681 326 chr4:151842372:T:C 8556_623_208_N->S 0.000199681 326 chr4:151849744:A:G 8556_473_158_V->A 0.000199681 326 chr4:151935598:A:C 8556_197_66_V->G 0.000399361 326 chr4:151935601:A:G 8556_194_65_I->T 0.00219649 326 chr4:151935622:C:G 8556_173_58_G->A 0.000798722 326 chr4:151935743:C:T 8556_52_18_G->R 0.000599042 326 na12878 Variants: 326 chr4:151199080:G:A 8556_8390_2797_S->L 326 chr4:151207127:C:T 8556_8074_2692_A->T 326 snyder Variants: 326 chr4:151199080:G:A 8556_8390_2797_S->L 326 chr4:151207127:C:T 8556_8074_2692_A->T 327 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198589_ENST00000357115 gene_Name: LRBA_HUMAN 327 list of pdbs: 327 1T77 pdb_description: 21-Dec-04 X-ray 2.400 Crystal structure of the ph-beach domains of human lrba/bgl 327 Zimmer Variants: 327 chr4:151199080:G:A 8592_8426_2809_S->L 327 chr4:151207127:C:T 8592_8110_2704_A->T 327 HGMD Variants: 327 chr4:151749456:G:A 8592_5047_1683_R->* 327 chr4:151817581:G:A 8592_2032_678_Q->* 327 chr4:151935620:C:A 8592_175_59_E->* 327 chr4:151223857:A:C 8592_7970_2657_I->S 327 oneKG Variants: 327 chr4:151818932:G:A 8592_1963_655_R->* 0.000199681 327 chr4:151186885:T:G 8592_8581_2861_T->P 0.00658946 327 chr4:151186906:G:A 8592_8560_2854_R->W 0.000199681 327 chr4:151186918:T:C 8592_8548_2850_N->D 0.000199681 327 chr4:151199009:G:C 8592_8497_2833_Q->E 0.000199681 327 chr4:151199012:C:T 8592_8494_2832_D->N 0.000399361 327 chr4:151199033:G:A 8592_8473_2825_R->W 0.000199681 327 chr4:151199070:C:G 8592_8436_2812_K->N 0.00159744 327 chr4:151199080:G:A 8592_8426_2809_S->L 0.142173 327 chr4:151199155:G:A 8592_8351_2784_A->V 0.000199681 327 chr4:151203684:A:G 8592_8267_2756_I->T 0.000199681 327 chr4:151203694:G:A 8592_8257_2753_H->Y 0.000199681 327 chr4:151203718:G:A 8592_8233_2745_L->F 0.000199681 327 chr4:151207098:C:G 8592_8139_2713_L->F 0.0121805 327 chr4:151207117:G:A 8592_8120_2707_A->V 0.000199681 327 chr4:151207126:G:A 8592_8111_2704_A->V 0.000199681 327 chr4:151207127:C:T 8592_8110_2704_A->T 0.162141 327 chr4:151223833:G:C 8592_7994_2665_T->S 0.000199681 327 chr4:151223842:C:T 8592_7985_2662_R->H 0.000199681 327 chr4:151231387:C:G 8592_7876_2626_D->H 0.000199681 327 chr4:151231395:T:C 8592_7868_2623_Y->C 0.000199681 327 chr4:151231411:T:G 8592_7852_2618_K->Q 0.000199681 327 chr4:151231464:C:T 8592_7799_2600_C->Y 0.000199681 327 chr4:151236719:G:A 8592_7720_2574_L->F 0.000199681 327 chr4:151242402:G:C 8592_7604_2535_A->G 0.000199681 327 chr4:151242403:C:T 8592_7603_2535_A->T 0.000399361 327 chr4:151242409:T:G 8592_7597_2533_T->P 0.00199681 327 chr4:151247049:G:C 8592_7397_2466_A->G 0.000798722 327 chr4:151336607:C:T 8592_7210_2404_V->I 0.000199681 327 chr4:151336669:T:C 8592_7148_2383_D->G 0.000199681 327 chr4:151336707:C:T 8592_7110_2370_M->I 0.000199681 327 chr4:151356746:T:C 8592_7069_2357_I->V 0.000199681 327 chr4:151356766:C:A 8592_7049_2350_S->I 0.00239617 327 chr4:151357910:G:T 8592_6920_2307_T->N 0.000599042 327 chr4:151357970:C:T 8592_6860_2287_R->H 0.000199681 327 chr4:151392781:A:G 8592_6695_2232_I->T 0.00139776 327 chr4:151408908:G:C 8592_6560_2187_T->R 0.000599042 327 chr4:151408924:G:A 8592_6544_2182_R->C 0.000199681 327 chr4:151408963:C:T 8592_6505_2169_D->N 0.000399361 327 chr4:151509208:C:T 8592_6355_2119_D->N 0.000199681 327 chr4:151509297:G:A 8592_6266_2089_P->L 0.000199681 327 chr4:151511895:C:T 8592_6196_2066_V->M 0.00119808 327 chr4:151512002:T:C 8592_6089_2030_E->G 0.000399361 327 chr4:151518249:C:G 8592_6065_2022_R->T 0.000199681 327 chr4:151520204:C:T 8592_6001_2001_G->R 0.000199681 327 chr4:151520216:G:A 8592_5989_1997_R->C 0.0133786 327 chr4:151520234:G:A 8592_5971_1991_R->C 0.000199681 327 chr4:151520264:G:A 8592_5941_1981_R->C 0.000199681 327 chr4:151520282:G:A 8592_5923_1975_R->C 0.000199681 327 chr4:151604790:C:T 8592_5834_1945_R->H 0.000199681 327 chr4:151604832:T:A 8592_5792_1931_D->V 0.000399361 327 chr4:151656447:T:C 8592_5717_1906_Q->R 0.000199681 327 chr4:151656501:A:G 8592_5663_1888_M->T 0.000199681 327 chr4:151729532:G:C 8592_5324_1775_A->G 0.000199681 327 chr4:151729542:A:G 8592_5314_1772_S->P 0.000399361 327 chr4:151749354:C:T 8592_5149_1717_V->M 0.00119808 327 chr4:151749419:A:G 8592_5084_1695_V->A 0.000199681 327 chr4:151749428:C:T 8592_5075_1692_G->E 0.000199681 327 chr4:151749473:T:C 8592_5030_1677_N->S 0.00459265 327 chr4:151749483:T:C 8592_5020_1674_K->E 0.000199681 327 chr4:151749548:G:A 8592_4955_1652_P->L 0.000599042 327 chr4:151749554:T:C 8592_4949_1650_K->R 0.000199681 327 chr4:151749561:C:A 8592_4942_1648_V->F 0.000199681 327 chr4:151749585:C:T 8592_4918_1640_V->M 0.000199681 327 chr4:151749738:C:G 8592_4765_1589_A->P 0.000199681 327 chr4:151749744:T:C 8592_4759_1587_T->A 0.000199681 327 chr4:151752978:A:G 8592_4720_1574_S->P 0.000199681 327 chr4:151753024:C:A 8592_4674_1558_R->S 0.000199681 327 chr4:151753107:A:C 8592_4591_1531_F->V 0.00179712 327 chr4:151765287:T:C 8592_4534_1512_I->V 0.000199681 327 chr4:151765814:G:A 8592_4457_1486_A->V 0.000399361 327 chr4:151770104:G:T 8592_4205_1402_A->D 0.000199681 327 chr4:151770138:T:A 8592_4171_1391_N->Y 0.000199681 327 chr4:151770581:G:A 8592_4151_1384_S->L 0.000199681 327 chr4:151770638:A:G 8592_4094_1365_M->T 0.000199681 327 chr4:151771885:A:G 8592_3995_1332_M->T 0.000199681 327 chr4:151771919:C:T 8592_3961_1321_D->N 0.000399361 327 chr4:151771925:G:C 8592_3955_1319_L->V 0.000199681 327 chr4:151771951:T:C 8592_3929_1310_N->S 0.000399361 327 chr4:151771956:C:A 8592_3924_1308_E->D 0.000199681 327 chr4:151771978:G:C 8592_3902_1301_S->C 0.000199681 327 chr4:151771981:C:A 8592_3899_1300_R->I 0.000599042 327 chr4:151772006:C:T 8592_3874_1292_V->I 0.00978435 327 chr4:151772021:T:C 8592_3859_1287_I->V 0.00159744 327 chr4:151773057:G:C 8592_3805_1269_P->A 0.000199681 327 chr4:151773098:C:G 8592_3764_1255_R->T 0.000199681 327 chr4:151773111:T:C 8592_3751_1251_T->A 0.000199681 327 chr4:151773119:T:C 8592_3743_1248_N->S 0.000599042 327 chr4:151773173:C:T 8592_3689_1230_G->D 0.00738818 327 chr4:151773270:G:T 8592_3592_1198_Q->K 0.000199681 327 chr4:151773294:T:C 8592_3568_1190_M->V 0.00299521 327 chr4:151773360:C:G 8592_3502_1168_D->H 0.000199681 327 chr4:151773455:G:A 8592_3407_1136_P->L 0.000399361 327 chr4:151773470:T:C 8592_3392_1131_D->G 0.00119808 327 chr4:151773489:G:C 8592_3373_1125_L->V 0.000199681 327 chr4:151773512:C:A 8592_3350_1117_G->V 0.00439297 327 chr4:151773531:C:A 8592_3331_1111_V->L 0.00419329 327 chr4:151773593:G:C 8592_3269_1090_A->G 0.203075 327 chr4:151773677:G:A 8592_3185_1062_S->F 0.000399361 327 chr4:151773700:T:C 8592_3162_1054_I->M 0.000199681 327 chr4:151773798:C:T 8592_3064_1022_E->K 0.000798722 327 chr4:151773921:C:T 8592_2941_981_V->I 0.000199681 327 chr4:151773935:G:A 8592_2927_976_T->M 0.000199681 327 chr4:151773951:A:G 8592_2911_971_S->P 0.000199681 327 chr4:151773983:C:G 8592_2879_960_G->A 0.000199681 327 chr4:151774022:A:G 8592_2840_947_I->T 0.000199681 327 chr4:151788915:C:T 8592_2674_892_A->T 0.00459265 327 chr4:151789392:G:A 8592_2515_839_R->C 0.000199681 327 chr4:151789404:T:C 8592_2503_835_S->G 0.000399361 327 chr4:151789431:G:T 8592_2476_826_L->I 0.000199681 327 chr4:151789441:A:C 8592_2466_822_I->M 0.000998403 327 chr4:151791682:T:C 8592_2444_815_N->S 0.000998403 327 chr4:151791710:C:A 8592_2416_806_D->Y 0.000199681 327 chr4:151792516:G:C 8592_2348_783_T->R 0.000199681 327 chr4:151792545:C:T 8592_2319_773_M->I 0.000399361 327 chr4:151792589:T:G 8592_2275_759_M->L 0.00179712 327 chr4:151793864:C:T 8592_2209_737_V->I 0.000798722 327 chr4:151793903:T:C 8592_2170_724_I->V 0.00958466 327 chr4:151814205:G:A 8592_2164_722_R->C 0.000399361 327 chr4:151814257:C:T 8592_2112_704_M->I 0.000998403 327 chr4:151817590:C:T 8592_2023_675_D->N 0.000199681 327 chr4:151818931:C:T 8592_1964_655_R->Q 0.000199681 327 chr4:151821240:T:C 8592_1885_629_N->D 0.000199681 327 chr4:151821269:T:C 8592_1856_619_H->R 0.000199681 327 chr4:151821300:G:A 8592_1825_609_R->W 0.000199681 327 chr4:151827510:G:A 8592_1541_514_A->V 0.000998403 327 chr4:151827538:T:C 8592_1513_505_I->V 0.00499201 327 chr4:151829571:T:C 8592_1408_470_I->V 0.000199681 327 chr4:151829580:T:C 8592_1399_467_M->V 0.000599042 327 chr4:151829921:A:G 8592_1250_417_I->T 0.000199681 327 chr4:151829982:C:T 8592_1189_397_D->N 0.000199681 327 chr4:151835354:C:A 8592_1154_385_G->V 0.000399361 327 chr4:151836779:C:G 8592_995_332_W->S 0.000199681 327 chr4:151837660:G:C 8592_787_263_L->V 0.000199681 327 chr4:151837778:T:C 8592_758_253_Y->C 0.000199681 327 chr4:151837787:T:A 8592_749_250_D->V 0.000199681 327 chr4:151837815:G:C 8592_721_241_P->A 0.000199681 327 chr4:151837844:A:C 8592_692_231_F->C 0.000199681 327 chr4:151842372:T:C 8592_623_208_N->S 0.000199681 327 chr4:151849744:A:G 8592_473_158_V->A 0.000199681 327 chr4:151935598:A:C 8592_197_66_V->G 0.000399361 327 chr4:151935601:A:G 8592_194_65_I->T 0.00219649 327 chr4:151935622:C:G 8592_173_58_G->A 0.000798722 327 chr4:151935743:C:T 8592_52_18_G->R 0.000599042 327 na12878 Variants: 327 chr4:151199080:G:A 8592_8426_2809_S->L 327 chr4:151207127:C:T 8592_8110_2704_A->T 327 snyder Variants: 327 chr4:151199080:G:A 8592_8426_2809_S->L 327 chr4:151207127:C:T 8592_8110_2704_A->T 328 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163110_ENST00000437932 gene_Name: PDLI5_HUMAN 328 list of pdbs: 328 2UZC pdb_description: 08-May-07 X-ray 1.500 Structure of human pdlim5 in complex with thE C-terminal peptide of human alpha-actinin-1 328 2DAR pdb_description: 12-Dec-06 NMR 20 Solution structure of first lim domain of enigma-like pdz and lim domains protein 328 Zimmer Variants: 328 chr4:95578588:G:A 1464_1148_383_S->N 328 chr4:95539267:G:A 1464_706_236_A->T 328 chr4:95561459:A:G 1464_814_272_T->A 328 HGMD Variants: 328 chr4:95561459:A:G 1464_814_272_T->A 328 oneKG Variants: 328 chr4:95376504:A:G 1464_65_22_K->R 0.00778754 328 chr4:95444885:G:T 1464_107_36_G->V 0.000599042 328 chr4:95444908:G:A 1464_130_44_V->I 0.000199681 328 chr4:95507586:A:G 1464_584_195_K->R 0.000199681 328 chr4:95539190:C:T 1464_629_210_S->L 0.000199681 328 chr4:95539204:C:T 1464_643_215_R->W 0.00139776 328 chr4:95539267:G:A 1464_706_236_A->T 0.006589 328 chr4:95561450:A:T 1464_805_269_N->Y 0.000199681 328 chr4:95561459:A:G 1464_814_272_T->A 0.38758 328 chr4:95561480:C:T 1464_835_279_P->S 0.00439297 328 chr4:95561487:A:C 1464_842_281_N->T 0.000199681 328 chr4:95561502:A:G 1464_857_286_Q->R 0.000199681 328 chr4:95575666:G:A 1464_1012_338_A->T 0.00379393 328 chr4:95575702:G:A 1464_1048_350_V->I 0.000199681 328 chr4:95578584:A:G 1464_1144_382_I->V 0.000599042 328 chr4:95578588:G:A 1464_1148_383_S->N 0.020367 328 chr4:95578650:C:T 1464_1210_404_R->W 0.000599042 328 chr4:95583584:C:G 1464_1270_424_L->V 0.000199681 328 chr4:95583657:A:G 1464_1343_448_Y->C 0.00139776 328 chr4:95585154:A:G 1464_1400_467_Q->R 0.000998403 328 chr4:95585190:A:C 1464_1436_479_K->T 0.000199681 328 chr4:95585202:A:G 1464_1448_483_H->R 0.00399361 328 na12878 Variants: 328 chr4:95578588:G:A 1464_1148_383_S->N 328 chr4:95539267:G:A 1464_706_236_A->T 328 snyder Variants: 328 chr4:95578588:G:A 1464_1148_383_S->N 328 chr4:95539267:G:A 1464_706_236_A->T 328 chr4:95561459:A:G 1464_814_272_T->A 329 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163110_ENST00000317968 gene_Name: PDLI5_HUMAN 329 list of pdbs: 329 2UZC pdb_description: 08-May-07 X-ray 1.500 Structure of human pdlim5 in complex with thE C-terminal peptide of human alpha-actinin-1 329 2DAR pdb_description: 12-Dec-06 NMR 20 Solution structure of first lim domain of enigma-like pdz and lim domains protein 329 Zimmer Variants: 329 chr4:95578588:G:A 1791_1475_492_S->N 329 chr4:95539267:G:A 1791_1033_345_A->T 329 chr4:95561459:A:G 1791_1141_381_T->A 329 HGMD Variants: 329 chr4:95561459:A:G 1791_1141_381_T->A 329 oneKG Variants: 329 chr4:95376504:A:G 1791_65_22_K->R 0.00778754 329 chr4:95444885:G:T 1791_107_36_G->V 0.000599042 329 chr4:95444908:G:A 1791_130_44_V->I 0.000199681 329 chr4:95496831:C:G 1791_356_119_S->C 0.00279553 329 chr4:95496882:C:T 1791_407_136_S->F 0.224641 329 chr4:95496971:G:A 1791_496_166_V->M 0.000199681 329 chr4:95507586:A:G 1791_911_304_K->R 0.000199681 329 chr4:95539190:C:T 1791_956_319_S->L 0.000199681 329 chr4:95539204:C:T 1791_970_324_R->W 0.00139776 329 chr4:95539267:G:A 1791_1033_345_A->T 0.006589 329 chr4:95561450:A:T 1791_1132_378_N->Y 0.000199681 329 chr4:95561459:A:G 1791_1141_381_T->A 0.38758 329 chr4:95561480:C:T 1791_1162_388_P->S 0.00439297 329 chr4:95561487:A:C 1791_1169_390_N->T 0.000199681 329 chr4:95561502:A:G 1791_1184_395_Q->R 0.000199681 329 chr4:95575666:G:A 1791_1339_447_A->T 0.00379393 329 chr4:95575702:G:A 1791_1375_459_V->I 0.000199681 329 chr4:95578584:A:G 1791_1471_491_I->V 0.000599042 329 chr4:95578588:G:A 1791_1475_492_S->N 0.020367 329 chr4:95578650:C:T 1791_1537_513_R->W 0.000599042 329 chr4:95583584:C:G 1791_1597_533_L->V 0.000199681 329 chr4:95583657:A:G 1791_1670_557_Y->C 0.00139776 329 chr4:95585154:A:G 1791_1727_576_Q->R 0.000998403 329 chr4:95585190:A:C 1791_1763_588_K->T 0.000199681 329 chr4:95585202:A:G 1791_1775_592_H->R 0.00399361 329 na12878 Variants: 329 chr4:95496882:C:T 1791_407_136_S->F 329 chr4:95578588:G:A 1791_1475_492_S->N 329 chr4:95539267:G:A 1791_1033_345_A->T 329 snyder Variants: 329 chr4:95578588:G:A 1791_1475_492_S->N 329 chr4:95539267:G:A 1791_1033_345_A->T 329 chr4:95561459:A:G 1791_1141_381_T->A 330 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169194_ENST00000304506 gene_Name: IL13_HUMAN 330 list of pdbs: 330 4I77 pdb_description: 06-Feb-13 X-ray 1.900 Lebrikizumab fab bound to il-13 330 3L5Y pdb_description: 14-Apr-10 X-ray 2.800 Crystal structure of the complex between il-13 and m1295 fab 330 3L5X pdb_description: 14-Apr-10 X-ray 1.900 Crystal structure of the complex between il-13 and h2l6 fab 330 3L5W pdb_description: 14-Apr-10 X-ray 2.000 Crystal structure of the complex between il-13 and c836 fab 330 3ITS pdb_description: 26-Jan-95 Theoret model Interleukin-13 model 2 (theoretical model, 1 structure) 330 3ITR pdb_description: 20-Dec-94 Theoret model Interleukin-13 model 1 (theoretical model) 330 3G6D pdb_description: 07-Apr-09 X-ray 3.200 Crystal structure of the complex between cnto607 fab and il- 330 1J9U pdb_description: 13-Jun-01 Theoret model Theoretical structure of human interleukin-13 330 1IK0 pdb_description: 01-May-02 NMR 30 Solution structure of human il-13 330 1IJZ pdb_description: 01-May-02 NMR 1 Solution structure of human il-13 330 1GA3 pdb_description: 04-Jul-01 NMR 20 Nmr structure of interleukin-13 330 3LB6 pdb_description: 16-Mar-10 X-ray 3.050 The structure of il-13 in complex with il-13ralpha2 330 3BPO pdb_description: 05-Feb-08 X-ray 3.000 Crystal structure of the il13-il4r-il13ra ternary complex 330 Zimmer Variants: 330 chr5:131995964:A:G 441_431_144_Q->R;HUB=PPI®GNEG=Yes;GENE=IL13;CDSS=3 330 HGMD Variants: 330 chr5:131995964:A:G 441_431_144_Q->R 330 oneKG Variants: 330 chr5:131993916:G:A 441_38_13_G->D 0.000199681 330 chr5:131993925:C:T 441_47_16_A->V 0.000199681 330 chr5:131993940:C:T 441_62_21_T->M 0.000199681 330 chr5:131995114:C:T 441_179_60_P->L 0.000998403 330 chr5:131995423:C:A 441_236_79_A->E 0.000998403 330 chr5:131995426:C:T 441_239_80_A->V 0.000199681 330 chr5:131995501:C:T 441_314_105_P->L 0.000199681 330 chr5:131995883:A:G 441_350_117_H->R 0.000199681 330 chr5:131995889:G:A 441_356_119_R->Q 0.00239617 330 chr5:131995964:A:G 441_431_144_Q->R 0.269968 330 na12878 Variants: 330 chr5:131995964:A:G 441_431_144_Q->R 330 snyder Variants: 330 chr5:131995964:A:G 441_431_144_Q->R 331 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120729_ENST00000239926 gene_Name: MYOTI_HUMAN 331 list of pdbs: 331 2KKQ pdb_description: 07-Jul-09 NMR 20 Solution nmr structure of the ig-like c2-type 2 domain of human myotilin. Northeast structural genomics target hr3158. 331 2KDG pdb_description: 21-Jul-09 NMR 25 Solution structure of the 1st ig domain of myotilin 331 Zimmer Variants: 331 chr5:137206560:A:C 1497_220_74_K->Q;GNEG=Yes;GENE=MYOT;CDSS=3 331 HGMD Variants: 331 chr5:137206356:C:G 1497_16_6_R->G 331 chr5:137206357:G:A 1497_17_6_R->H 331 chr5:137206446:A:G 1497_106_36_K->E 331 chr5:137206456:C:T 1497_116_39_S->F 331 chr5:137206504:C:T 1497_164_55_S->F 331 chr5:137206510:C:T 1497_170_57_T->I 331 chr5:137206519:C:T 1497_179_60_S->F 331 chr5:137206519:C:G 1497_179_60_S->C 331 chr5:137206560:A:C 1497_220_74_K->Q 331 chr5:137206624:G:T 1497_284_95_S->I 331 chr5:137222576:G:A 1497_1214_405_R->K 331 oneKG Variants: 331 chr5:137222934:C:T 1497_1357_453_Q->* 0.000199681 331 chr5:137206485:G:C 1497_145_49_E->Q 0.000199681 331 chr5:137206489:A:G 1497_149_50_Q->R 0.0277556 331 chr5:137206681:C:A 1497_341_114_S->Y 0.000199681 331 chr5:137206683:G:A 1497_343_115_A->T 0.000599042 331 chr5:137211606:G:C 1497_445_149_E->Q 0.000199681 331 chr5:137213210:G:A 1497_533_178_R->H 0.000199681 331 chr5:137213227:A:C 1497_550_184_K->Q 0.000199681 331 chr5:137213237:G:A 1497_560_187_R->H 0.000199681 331 chr5:137213248:G:C 1497_571_191_G->R 0.00139776 331 chr5:137213294:G:A 1497_617_206_G->D 0.00319489 331 chr5:137216524:C:T 1497_653_218_A->V 0.000399361 331 chr5:137217712:A:G 1497_734_245_E->G 0.000199681 331 chr5:137219115:G:A 1497_859_287_G->R 0.000199681 331 chr5:137219199:G:A 1497_943_315_A->T 0.000599042 331 chr5:137219271:G:C 1497_1015_339_D->H 0.000199681 331 chr5:137219275:T:C 1497_1019_340_V->A 0.000199681 331 chr5:137221797:A:G 1497_1085_362_E->G 0.000199681 331 chr5:137222620:T:C 1497_1258_420_W->R 0.000199681 331 chr5:137222648:C:G 1497_1286_429_A->G 0.000399361 331 chr5:137222677:G:C 1497_1315_439_D->H 0.000199681 331 chr5:137222904:C:T 1497_1327_443_R->C 0.000199681 331 chr5:137222990:G:T 1497_1413_471_L->F 0.000199681 331 chr5:137223061:G:A 1497_1484_495_S->N 0.000798722 331 na12878 Variants: 331 chr5:137206560:A:C 1497_220_74_K->Q 331 snyder Variants: 331 chr5:137206560:A:C 1497_220_74_K->Q 332 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169252_ENST00000305988 gene_Name: ADRB2_HUMAN 332 list of pdbs: 332 4LDO pdb_description: 25-Sep-13 X-ray 3.200 Structure of beta2 adrenoceptor bound to adrenaline and an e nanobody 332 4LDL pdb_description: 25-Sep-13 X-ray 3.100 Structure of beta2 adrenoceptor bound to hydroxybenzylisopro and an engineered nanobody 332 4LDE pdb_description: 25-Sep-13 X-ray 2.790 Structure of beta2 adrenoceptor bound to bi167107 and an eng nanobody 332 4GBR pdb_description: 24-Oct-12 X-ray 3.990 N-terminal t4 lysozyme fusion facilitates crystallization of protein coupled receptor 332 3SN6 pdb_description: 20-Jul-11 X-ray 3.200 Crystal structure of the beta2 adrenergic receptor-gs protei 332 3PDS pdb_description: 12-Jan-11 X-ray 3.500 Irreversible agonist-beta2 adrenoceptor complex 332 3P0G pdb_description: 19-Jan-11 X-ray 3.500 Structure of a nanobody-stabilized active state of the beta2 adrenoceptor 332 3NYA pdb_description: 11-Aug-10 X-ray 3.160 Crystal structure of the human beta2 adrenergic receptor in with the neutral antagonist alprenolol 332 3NY9 pdb_description: 11-Aug-10 X-ray 2.840 Crystal structure of the human beta2 adrenergic receptor in with a novel inverse agonist 332 3NY8 pdb_description: 11-Aug-10 X-ray 2.840 Crystal structure of the human beta2 adrenergic receptor in with the inverse agonist ici 118,551 332 3KJ6 pdb_description: 16-Feb-10 X-ray 3.400 Crystal structure of a methylated beta2 adrenergic receptor- fab complex 332 3D4S pdb_description: 17-Jun-08 X-ray 2.800 Cholesterol bound form of human beta2 adrenergic receptor. 332 2RH1 pdb_description: 30-Oct-07 X-ray 2.400 High resolution crystal structure of human b2-adrenergic g p coupled receptor. 332 2R4S pdb_description: 06-Nov-07 X-ray 3.400 Crystal structure of the human beta2 adrenoceptor 332 2R4R pdb_description: 06-Nov-07 X-ray 3.400 Crystal structure of the human beta2 adrenoceptor 332 1GQ4 pdb_description: 21-May-02 X-ray 1.900 Structural determinants of the nherf interaction with beta2ar and pdgfr 332 Zimmer Variants: 332 chr5:148206473:G:C 1242_79_27_E->Q;HUB=PPI;GENE=ADRB2;CDSS=3 332 HGMD Variants: 332 chr5:148206440:G:A 1242_46_16_G->R 332 chr5:148206473:G:C 1242_79_27_E->Q 332 chr5:148206750:C:A 1242_356_119_A->D 332 chr5:148206885:C:T 1242_491_164_T->I 332 oneKG Variants: 332 chr5:148206438:A:G 1242_44_15_N->S 0.000599042 332 chr5:148206440:G:A 1242_46_16_G->R 0.475639 332 chr5:148206473:G:C 1242_79_27_E->Q 0.204273 332 chr5:148206600:A:G 1242_206_69_N->S 0.000399361 332 chr5:148206612:C:G 1242_218_73_T->S 0.000199681 332 chr5:148206642:G:A 1242_248_83_G->D 0.000199681 332 chr5:148206885:C:T 1242_491_164_T->I 0.00399361 332 chr5:148206928:C:A 1242_534_178_H->Q 0.000798722 332 chr5:148206954:A:G 1242_560_187_N->S 0.000998403 332 chr5:148207040:G:A 1242_646_216_V->I 0.000199681 332 chr5:148207053:C:G 1242_659_220_S->C 0.00978435 332 chr5:148207170:G:A 1242_776_259_R->H 0.000399361 332 chr5:148207334:A:G 1242_940_314_I->V 0.000199681 332 chr5:148207613:A:G 1242_1219_407_S->G 0.000199681 332 na12878 Variants: 332 chr5:148206440:G:A 1242_46_16_G->R 332 chr5:148206473:G:C 1242_79_27_E->Q 332 snyder Variants: 332 chr5:148206440:G:A 1242_46_16_G->R 332 chr5:148206473:G:C 1242_79_27_E->Q 333 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049860_ENST00000261416 gene_Name: HEXB_HUMAN 333 list of pdbs: 333 3LMY pdb_description: 16-Feb-11 X-ray 2.800 The crystal structure of beta-hexosaminidase b in complex wi pyrimethamine 333 1QBD pdb_description: 11-Jan-97 Theoret model Hexosaminidase beta chain, glycosyl hydrolase family 20, theoretical model 333 1O7A pdb_description: 23-Oct-03 X-ray 2.250 Human beta-hexosaminidase b 333 1NP0 pdb_description: 29-Apr-03 X-ray 2.500 Human lysosomal beta-hexosaminidase isoform b in complex wit intermediate analogue NAG-thiazoline 333 1NOW pdb_description: 29-Apr-03 X-ray 2.200 Human lysosomal beta-hexosaminidase isoform b in complex wit 4s,5r)-2-acetamido-3,4-dihydroxy-5-hydroxymethyl-piperidini chloride (galnac-isofagomine) 333 1NOU pdb_description: 08-Apr-03 X-ray 2.400 Native human lysosomal beta-hexosaminidase isoform b 333 2GK1 pdb_description: 30-May-06 X-ray 3.250 X-ray crystal structure of ngt-bound hexa 333 2GJX pdb_description: 20-Jun-06 X-ray 2.800 Crystallographic structure of human beta-hexosaminidase a 333 Zimmer Variants: 333 chr5:73981270:T:C 1671_185_62_L->S;GNEG=Yes;GENE=HEXB;CDSS=3 333 chr5:73985215:A:G 1671_362_121_K->R;GNEG=Yes;GENE=HEXB;CDSS=2 333 HGMD Variants: 333 chr5:73981179:C:T 1671_94_32_Q->* 333 chr5:73981231:C:A 1671_146_49_S->* 333 chr5:73989526:C:T 1671_508_170_R->* 333 chr5:73992558:T:G 1671_552_184_Y->* 333 chr5:74009409:C:T 1671_850_284_R->* 333 chr5:74014751:C:T 1671_1372_458_Q->* 333 chr5:74016500:G:A 1671_1541_514_W->* 333 chr5:73981256:G:C 1671_171_57_W->C 333 chr5:73981270:T:C 1671_185_62_L->S 333 chr5:73981374:G:C 1671_289_97_A->P 333 chr5:73981384:G:T 1671_299_100_R->L 333 chr5:73985263:G:A 1671_410_137_C->Y 333 chr5:73989466:A:C 1671_448_150_T->P 333 chr5:73992881:A:G 1671_619_207_I->V 333 chr5:73992888:C:T 1671_626_209_T->I 333 chr5:73992896:C:A 1671_634_212_H->N 333 chr5:74001077:C:T 1671_703_235_H->Y 333 chr5:74001139:C:G 1671_765_255_S->R 333 chr5:74009355:T:G 1671_796_266_Y->D 333 chr5:74009404:G:A 1671_845_282_G->E 333 chr5:74009410:G:A 1671_851_284_R->Q 333 chr5:74009443:C:G 1671_884_295_T->R 333 chr5:74011359:G:T 1671_926_309_C->F 333 chr5:74011359:G:A 1671_926_309_C->Y 333 chr5:74011511:T:C 1671_1078_360_C->R 333 chr5:74014629:C:T 1671_1250_417_P->L 333 chr5:74014629:C:T 1671_1250_417_P->L 333 chr5:74014688:A:C 1671_1309_437_T->P 333 chr5:74014746:A:C 1671_1367_456_Y->S 333 chr5:74014755:A:C 1671_1376_459_D->A 333 chr5:74016286:G:A 1671_1451_484_G->E 333 chr5:74016316:A:G 1671_1481_494_D->G 333 chr5:74016342:T:C 1671_1507_503_W->R 333 chr5:74016469:C:T 1671_1510_504_P->S 333 chr5:74016473:G:A 1671_1514_505_R->Q 333 chr5:74016497:T:C 1671_1538_513_L->P 333 chr5:74016556:C:T 1671_1597_533_R->C 333 chr5:74016557:G:A 1671_1598_533_R->H 333 chr5:74016560:G:T 1671_1601_534_C->F 333 chr5:74016560:G:A 1671_1601_534_C->Y 333 chr5:74016944:C:T 1671_1615_539_R->C 333 chr5:74016956:G:A 1671_1627_543_A->T 333 chr5:74016981:G:A 1671_1652_551_C->Y 333 oneKG Variants: 333 chr5:73981089:G:A 1671_4_2_E->K 0.000199681 333 chr5:73981090:A:T 1671_5_2_E->V 0.000199681 333 chr5:73981270:T:C 1671_185_62_L->S 0.01857 333 chr5:73981299:C:T 1671_214_72_L->F 0.00419329 333 chr5:73981336:A:G 1671_251_84_N->S 0.000199681 333 chr5:73985215:A:G 1671_362_121_K->R 0.222644 333 chr5:73985236:T:G 1671_383_128_L->R 0.000399361 333 chr5:73989467:C:A 1671_449_150_T->N 0.0107827 333 chr5:73992881:A:G 1671_619_207_I->V 0.128395 333 chr5:74001089:G:A 1671_715_239_V->I 0.000399361 333 chr5:74009383:T:C 1671_824_275_I->T 0.000399361 333 chr5:74009455:G:T 1671_896_299_G->V 0.000199681 333 chr5:74011355:C:G 1671_922_308_P->A 0.000199681 333 chr5:74011356:C:T 1671_923_308_P->L 0.000199681 333 chr5:74011499:G:A 1671_1066_356_V->M 0.000199681 333 chr5:74014629:C:T 1671_1250_417_P->L 0.000599042 333 chr5:74014637:A:G 1671_1258_420_I->V 0.0111821 333 chr5:74014746:A:C 1671_1367_456_Y->S 0.000199681 333 chr5:74016272:A:C 1671_1437_479_Q->H 0.000199681 333 chr5:74016548:C:G 1671_1589_530_T->R 0.000399361 333 chr5:74016956:G:A 1671_1627_543_A->T 0.000599042 333 na12878 Variants: 333 chr5:73981270:T:C 1671_185_62_L->S 333 snyder Variants: 333 chr5:73981270:T:C 1671_185_62_L->S 333 chr5:73992881:A:G 1671_619_207_I->V 334 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000039319_ENST00000338008 gene_Name: ZFY16_HUMAN 334 list of pdbs: 334 3T7L pdb_description: 31-Aug-11 X-ray 1.090 Crystal structure of the fyve domain of endofin (zfyve16) at resolution 334 Zimmer Variants: 334 chr5:79734297:T:C 4620_1793_598_I->T 334 chr5:79745469:A:G 4620_3163_1055_S->G 334 chr5:79733079:T:C 4620_575_192_I->T 334 HGMD Variants: 334 chr5:79745469:A:G 4620_3163_1055_S->G 334 oneKG Variants: 334 chr5:79732577:G:A 4620_73_25_E->K 0.000199681 334 chr5:79732581:A:C 4620_77_26_Q->P 0.000599042 334 chr5:79732604:A:T 4620_100_34_N->Y 0.000599042 334 chr5:79732626:G:A 4620_122_41_C->Y 0.000199681 334 chr5:79732631:G:A 4620_127_43_V->I 0.00479233 334 chr5:79732668:T:C 4620_164_55_L->S 0.000199681 334 chr5:79732671:T:G 4620_167_56_L->R 0.000199681 334 chr5:79732691:G:A 4620_187_63_V->I 0.000199681 334 chr5:79732730:A:C 4620_226_76_N->H 0.000199681 334 chr5:79732880:A:G 4620_376_126_I->V 0.000199681 334 chr5:79732908:A:G 4620_404_135_N->S 0.00399361 334 chr5:79732913:G:C 4620_409_137_V->L 0.00399361 334 chr5:79732919:G:A 4620_415_139_A->T 0.000199681 334 chr5:79732920:C:T 4620_416_139_A->V 0.000199681 334 chr5:79733002:A:C 4620_498_166_L->F 0.000199681 334 chr5:79733026:T:G 4620_522_174_C->W 0.000199681 334 chr5:79733069:C:G 4620_565_189_Q->E 0.000998403 334 chr5:79733079:T:C 4620_575_192_I->T 0.239018 334 chr5:79733129:A:G 4620_625_209_I->V 0.000199681 334 chr5:79733144:A:G 4620_640_214_T->A 0.000199681 334 chr5:79733253:G:A 4620_749_250_R->Q 0.0151757 334 chr5:79733277:C:A 4620_773_258_A->D 0.000399361 334 chr5:79733423:C:G 4620_919_307_P->A 0.000199681 334 chr5:79733424:C:T 4620_920_307_P->L 0.000199681 334 chr5:79733476:C:A 4620_972_324_F->L 0.000199681 334 chr5:79733568:A:T 4620_1064_355_D->V 0.000199681 334 chr5:79733592:C:T 4620_1088_363_A->V 0.000199681 334 chr5:79733619:C:T 4620_1115_372_P->L 0.000199681 334 chr5:79733634:G:A 4620_1130_377_C->Y 0.000199681 334 chr5:79733654:A:G 4620_1150_384_M->V 0.000199681 334 chr5:79733685:G:A 4620_1181_394_R->Q 0.0111821 334 chr5:79733753:A:G 4620_1249_417_I->V 0.000199681 334 chr5:79733763:G:A 4620_1259_420_S->N 0.000798722 334 chr5:79733789:A:G 4620_1285_429_K->E 0.000199681 334 chr5:79733864:A:G 4620_1360_454_R->G 0.000199681 334 chr5:79733886:C:G 4620_1382_461_T->R 0.000199681 334 chr5:79733934:T:C 4620_1430_477_V->A 0.000199681 334 chr5:79734150:C:A 4620_1646_549_S->Y 0.000199681 334 chr5:79734201:T:C 4620_1697_566_M->T 0.000998403 334 chr5:79734206:G:A 4620_1702_568_G->S 0.00399361 334 chr5:79734297:T:C 4620_1793_598_I->T 0.146366 334 chr5:79734317:A:G 4620_1813_605_I->V 0.000599042 334 chr5:79734329:C:G 4620_1825_609_L->V 0.00139776 334 chr5:79734387:C:G 4620_1883_628_S->C 0.000199681 334 chr5:79734395:A:G 4620_1891_631_T->A 0.00119808 334 chr5:79734491:A:G 4620_1987_663_K->E 0.000199681 334 chr5:79734563:A:G 4620_2059_687_I->V 0.00139776 334 chr5:79734577:A:G 4620_2073_691_I->M 0.00658946 334 chr5:79734593:C:T 4620_2089_697_P->S 0.000199681 334 chr5:79734658:C:G 4620_2154_718_F->L 0.000199681 334 chr5:79734693:C:T 4620_2189_730_T->I 0.000199681 334 chr5:79734726:A:G 4620_2222_741_Q->R 0.000599042 334 chr5:79735768:T:C 4620_2336_779_V->A 0.000199681 334 chr5:79738989:T:G 4620_2467_823_S->A 0.000199681 334 chr5:79739007:T:G 4620_2485_829_C->G 0.00159744 334 chr5:79739016:G:C 4620_2494_832_V->L 0.000199681 334 chr5:79739056:C:T 4620_2534_845_S->L 0.000199681 334 chr5:79741133:C:T 4620_2633_878_P->L 0.000998403 334 chr5:79741204:C:T 4620_2704_902_L->F 0.000199681 334 chr5:79741222:A:G 4620_2722_908_M->V 0.000599042 334 chr5:79744001:A:G 4620_2881_961_T->A 0.000199681 334 chr5:79744170:A:G 4620_3050_1017_N->S 0.000399361 334 chr5:79745469:A:G 4620_3163_1055_S->G 0.146565 334 chr5:79746349:C:T 4620_3326_1109_T->I 0.00319489 334 chr5:79747384:A:G 4620_3463_1155_I->V 0.000199681 334 chr5:79747390:C:T 4620_3469_1157_P->S 0.000199681 334 chr5:79752295:C:A 4620_3706_1236_Q->K 0.000599042 334 chr5:79752368:G:A 4620_3779_1260_R->Q 0.000199681 334 chr5:79752773:G:A 4620_3805_1269_V->I 0.000399361 334 chr5:79752885:A:G 4620_3917_1306_N->S 0.000199681 334 chr5:79752909:A:G 4620_3941_1314_K->R 0.000199681 334 chr5:79755260:A:G 4620_3971_1324_N->S 0.000998403 334 chr5:79755278:C:G 4620_3989_1330_S->C 0.000199681 334 chr5:79768604:C:G 4620_4049_1350_P->R 0.000599042 334 chr5:79768610:C:T 4620_4055_1352_T->I 0.000199681 334 chr5:79768625:G:A 4620_4070_1357_R->Q 0.00239617 334 chr5:79768699:G:A 4620_4144_1382_V->M 0.000199681 334 chr5:79769638:C:T 4620_4253_1418_A->V 0.000199681 334 chr5:79769662:T:C 4620_4277_1426_I->T 0.000199681 334 chr5:79770488:T:A 4620_4300_1434_Y->N 0.000199681 334 chr5:79770561:G:A 4620_4373_1458_C->Y 0.000199681 334 chr5:79770566:G:A 4620_4378_1460_A->T 0.000199681 334 chr5:79773048:A:G 4620_4472_1491_Q->R 0.000399361 334 chr5:79773051:C:T 4620_4475_1492_A->V 0.000199681 334 chr5:79773132:C:A 4620_4556_1519_T->N 0.00399361 334 na12878 Variants: 334 chr5:79734297:T:C 4620_1793_598_I->T 334 chr5:79745469:A:G 4620_3163_1055_S->G 334 chr5:79733079:T:C 4620_575_192_I->T 334 snyder Variants: 334 chr5:79734297:T:C 4620_1793_598_I->T 334 chr5:79745469:A:G 4620_3163_1055_S->G 334 chr5:79733079:T:C 4620_575_192_I->T 335 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000039319_ENST00000510158 gene_Name: ZFY16_HUMAN 335 list of pdbs: 335 3T7L pdb_description: 31-Aug-11 X-ray 1.090 Crystal structure of the fyve domain of endofin (zfyve16) at resolution 335 Zimmer Variants: 335 chr5:79734297:T:C 4620_1793_598_I->T;GNEG=Yes;GENE=ZFYVE16;CDSS=3 335 chr5:79745469:A:G 4620_3163_1055_S->G;GNEG=Yes;GENE=ZFYVE16;CDSS=3 335 chr5:79733079:T:C 4620_575_192_I->T;GNEG=Yes;GENE=ZFYVE16;CDSS=2 335 HGMD Variants: 335 chr5:79745469:A:G 4620_3163_1055_S->G 335 oneKG Variants: 335 chr5:79732577:G:A 4620_73_25_E->K 0.000199681 335 chr5:79732581:A:C 4620_77_26_Q->P 0.000599042 335 chr5:79732604:A:T 4620_100_34_N->Y 0.000599042 335 chr5:79732626:G:A 4620_122_41_C->Y 0.000199681 335 chr5:79732631:G:A 4620_127_43_V->I 0.00479233 335 chr5:79732668:T:C 4620_164_55_L->S 0.000199681 335 chr5:79732671:T:G 4620_167_56_L->R 0.000199681 335 chr5:79732691:G:A 4620_187_63_V->I 0.000199681 335 chr5:79732730:A:C 4620_226_76_N->H 0.000199681 335 chr5:79732880:A:G 4620_376_126_I->V 0.000199681 335 chr5:79732908:A:G 4620_404_135_N->S 0.00399361 335 chr5:79732913:G:C 4620_409_137_V->L 0.00399361 335 chr5:79732919:G:A 4620_415_139_A->T 0.000199681 335 chr5:79732920:C:T 4620_416_139_A->V 0.000199681 335 chr5:79733002:A:C 4620_498_166_L->F 0.000199681 335 chr5:79733026:T:G 4620_522_174_C->W 0.000199681 335 chr5:79733069:C:G 4620_565_189_Q->E 0.000998403 335 chr5:79733079:T:C 4620_575_192_I->T 0.239018 335 chr5:79733129:A:G 4620_625_209_I->V 0.000199681 335 chr5:79733144:A:G 4620_640_214_T->A 0.000199681 335 chr5:79733253:G:A 4620_749_250_R->Q 0.0151757 335 chr5:79733277:C:A 4620_773_258_A->D 0.000399361 335 chr5:79733423:C:G 4620_919_307_P->A 0.000199681 335 chr5:79733424:C:T 4620_920_307_P->L 0.000199681 335 chr5:79733476:C:A 4620_972_324_F->L 0.000199681 335 chr5:79733568:A:T 4620_1064_355_D->V 0.000199681 335 chr5:79733592:C:T 4620_1088_363_A->V 0.000199681 335 chr5:79733619:C:T 4620_1115_372_P->L 0.000199681 335 chr5:79733634:G:A 4620_1130_377_C->Y 0.000199681 335 chr5:79733654:A:G 4620_1150_384_M->V 0.000199681 335 chr5:79733685:G:A 4620_1181_394_R->Q 0.0111821 335 chr5:79733753:A:G 4620_1249_417_I->V 0.000199681 335 chr5:79733763:G:A 4620_1259_420_S->N 0.000798722 335 chr5:79733789:A:G 4620_1285_429_K->E 0.000199681 335 chr5:79733864:A:G 4620_1360_454_R->G 0.000199681 335 chr5:79733886:C:G 4620_1382_461_T->R 0.000199681 335 chr5:79733934:T:C 4620_1430_477_V->A 0.000199681 335 chr5:79734150:C:A 4620_1646_549_S->Y 0.000199681 335 chr5:79734201:T:C 4620_1697_566_M->T 0.000998403 335 chr5:79734206:G:A 4620_1702_568_G->S 0.00399361 335 chr5:79734297:T:C 4620_1793_598_I->T 0.146366 335 chr5:79734317:A:G 4620_1813_605_I->V 0.000599042 335 chr5:79734329:C:G 4620_1825_609_L->V 0.00139776 335 chr5:79734387:C:G 4620_1883_628_S->C 0.000199681 335 chr5:79734395:A:G 4620_1891_631_T->A 0.00119808 335 chr5:79734491:A:G 4620_1987_663_K->E 0.000199681 335 chr5:79734563:A:G 4620_2059_687_I->V 0.00139776 335 chr5:79734577:A:G 4620_2073_691_I->M 0.00658946 335 chr5:79734593:C:T 4620_2089_697_P->S 0.000199681 335 chr5:79734658:C:G 4620_2154_718_F->L 0.000199681 335 chr5:79734693:C:T 4620_2189_730_T->I 0.000199681 335 chr5:79734726:A:G 4620_2222_741_Q->R 0.000599042 335 chr5:79735768:T:C 4620_2336_779_V->A 0.000199681 335 chr5:79738989:T:G 4620_2467_823_S->A 0.000199681 335 chr5:79739007:T:G 4620_2485_829_C->G 0.00159744 335 chr5:79739016:G:C 4620_2494_832_V->L 0.000199681 335 chr5:79739056:C:T 4620_2534_845_S->L 0.000199681 335 chr5:79741133:C:T 4620_2633_878_P->L 0.000998403 335 chr5:79741204:C:T 4620_2704_902_L->F 0.000199681 335 chr5:79741222:A:G 4620_2722_908_M->V 0.000599042 335 chr5:79744001:A:G 4620_2881_961_T->A 0.000199681 335 chr5:79744170:A:G 4620_3050_1017_N->S 0.000399361 335 chr5:79745469:A:G 4620_3163_1055_S->G 0.146565 335 chr5:79746349:C:T 4620_3326_1109_T->I 0.00319489 335 chr5:79747384:A:G 4620_3463_1155_I->V 0.000199681 335 chr5:79747390:C:T 4620_3469_1157_P->S 0.000199681 335 chr5:79752295:C:A 4620_3706_1236_Q->K 0.000599042 335 chr5:79752368:G:A 4620_3779_1260_R->Q 0.000199681 335 chr5:79752773:G:A 4620_3805_1269_V->I 0.000399361 335 chr5:79752885:A:G 4620_3917_1306_N->S 0.000199681 335 chr5:79752909:A:G 4620_3941_1314_K->R 0.000199681 335 chr5:79755260:A:G 4620_3971_1324_N->S 0.000998403 335 chr5:79755278:C:G 4620_3989_1330_S->C 0.000199681 335 chr5:79768604:C:G 4620_4049_1350_P->R 0.000599042 335 chr5:79768610:C:T 4620_4055_1352_T->I 0.000199681 335 chr5:79768625:G:A 4620_4070_1357_R->Q 0.00239617 335 chr5:79768699:G:A 4620_4144_1382_V->M 0.000199681 335 chr5:79769638:C:T 4620_4253_1418_A->V 0.000199681 335 chr5:79769662:T:C 4620_4277_1426_I->T 0.000199681 335 chr5:79770488:T:A 4620_4300_1434_Y->N 0.000199681 335 chr5:79770561:G:A 4620_4373_1458_C->Y 0.000199681 335 chr5:79770566:G:A 4620_4378_1460_A->T 0.000199681 335 chr5:79773048:A:G 4620_4472_1491_Q->R 0.000399361 335 chr5:79773051:C:T 4620_4475_1492_A->V 0.000199681 335 chr5:79773132:C:A 4620_4556_1519_T->N 0.00399361 335 na12878 Variants: 335 chr5:79734297:T:C 4620_1793_598_I->T 335 chr5:79745469:A:G 4620_3163_1055_S->G 335 chr5:79733079:T:C 4620_575_192_I->T 335 snyder Variants: 335 chr5:79734297:T:C 4620_1793_598_I->T 335 chr5:79745469:A:G 4620_3163_1055_S->G 335 chr5:79733079:T:C 4620_575_192_I->T 336 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000039319_ENST00000505560 gene_Name: ZFY16_HUMAN 336 list of pdbs: 336 3T7L pdb_description: 31-Aug-11 X-ray 1.090 Crystal structure of the fyve domain of endofin (zfyve16) at resolution 336 Zimmer Variants: 336 chr5:79734297:T:C 4620_1793_598_I->T 336 chr5:79745469:A:G 4620_3163_1055_S->G 336 chr5:79733079:T:C 4620_575_192_I->T 336 HGMD Variants: 336 chr5:79745469:A:G 4620_3163_1055_S->G 336 oneKG Variants: 336 chr5:79732577:G:A 4620_73_25_E->K 0.000199681 336 chr5:79732581:A:C 4620_77_26_Q->P 0.000599042 336 chr5:79732604:A:T 4620_100_34_N->Y 0.000599042 336 chr5:79732626:G:A 4620_122_41_C->Y 0.000199681 336 chr5:79732631:G:A 4620_127_43_V->I 0.00479233 336 chr5:79732668:T:C 4620_164_55_L->S 0.000199681 336 chr5:79732671:T:G 4620_167_56_L->R 0.000199681 336 chr5:79732691:G:A 4620_187_63_V->I 0.000199681 336 chr5:79732730:A:C 4620_226_76_N->H 0.000199681 336 chr5:79732880:A:G 4620_376_126_I->V 0.000199681 336 chr5:79732908:A:G 4620_404_135_N->S 0.00399361 336 chr5:79732913:G:C 4620_409_137_V->L 0.00399361 336 chr5:79732919:G:A 4620_415_139_A->T 0.000199681 336 chr5:79732920:C:T 4620_416_139_A->V 0.000199681 336 chr5:79733002:A:C 4620_498_166_L->F 0.000199681 336 chr5:79733026:T:G 4620_522_174_C->W 0.000199681 336 chr5:79733069:C:G 4620_565_189_Q->E 0.000998403 336 chr5:79733079:T:C 4620_575_192_I->T 0.239018 336 chr5:79733129:A:G 4620_625_209_I->V 0.000199681 336 chr5:79733144:A:G 4620_640_214_T->A 0.000199681 336 chr5:79733253:G:A 4620_749_250_R->Q 0.0151757 336 chr5:79733277:C:A 4620_773_258_A->D 0.000399361 336 chr5:79733423:C:G 4620_919_307_P->A 0.000199681 336 chr5:79733424:C:T 4620_920_307_P->L 0.000199681 336 chr5:79733476:C:A 4620_972_324_F->L 0.000199681 336 chr5:79733568:A:T 4620_1064_355_D->V 0.000199681 336 chr5:79733592:C:T 4620_1088_363_A->V 0.000199681 336 chr5:79733619:C:T 4620_1115_372_P->L 0.000199681 336 chr5:79733634:G:A 4620_1130_377_C->Y 0.000199681 336 chr5:79733654:A:G 4620_1150_384_M->V 0.000199681 336 chr5:79733685:G:A 4620_1181_394_R->Q 0.0111821 336 chr5:79733753:A:G 4620_1249_417_I->V 0.000199681 336 chr5:79733763:G:A 4620_1259_420_S->N 0.000798722 336 chr5:79733789:A:G 4620_1285_429_K->E 0.000199681 336 chr5:79733864:A:G 4620_1360_454_R->G 0.000199681 336 chr5:79733886:C:G 4620_1382_461_T->R 0.000199681 336 chr5:79733934:T:C 4620_1430_477_V->A 0.000199681 336 chr5:79734150:C:A 4620_1646_549_S->Y 0.000199681 336 chr5:79734201:T:C 4620_1697_566_M->T 0.000998403 336 chr5:79734206:G:A 4620_1702_568_G->S 0.00399361 336 chr5:79734297:T:C 4620_1793_598_I->T 0.146366 336 chr5:79734317:A:G 4620_1813_605_I->V 0.000599042 336 chr5:79734329:C:G 4620_1825_609_L->V 0.00139776 336 chr5:79734387:C:G 4620_1883_628_S->C 0.000199681 336 chr5:79734395:A:G 4620_1891_631_T->A 0.00119808 336 chr5:79734491:A:G 4620_1987_663_K->E 0.000199681 336 chr5:79734563:A:G 4620_2059_687_I->V 0.00139776 336 chr5:79734577:A:G 4620_2073_691_I->M 0.00658946 336 chr5:79734593:C:T 4620_2089_697_P->S 0.000199681 336 chr5:79734658:C:G 4620_2154_718_F->L 0.000199681 336 chr5:79734693:C:T 4620_2189_730_T->I 0.000199681 336 chr5:79734726:A:G 4620_2222_741_Q->R 0.000599042 336 chr5:79735768:T:C 4620_2336_779_V->A 0.000199681 336 chr5:79738989:T:G 4620_2467_823_S->A 0.000199681 336 chr5:79739007:T:G 4620_2485_829_C->G 0.00159744 336 chr5:79739016:G:C 4620_2494_832_V->L 0.000199681 336 chr5:79739056:C:T 4620_2534_845_S->L 0.000199681 336 chr5:79741133:C:T 4620_2633_878_P->L 0.000998403 336 chr5:79741204:C:T 4620_2704_902_L->F 0.000199681 336 chr5:79741222:A:G 4620_2722_908_M->V 0.000599042 336 chr5:79744001:A:G 4620_2881_961_T->A 0.000199681 336 chr5:79744170:A:G 4620_3050_1017_N->S 0.000399361 336 chr5:79745469:A:G 4620_3163_1055_S->G 0.146565 336 chr5:79746349:C:T 4620_3326_1109_T->I 0.00319489 336 chr5:79747384:A:G 4620_3463_1155_I->V 0.000199681 336 chr5:79747390:C:T 4620_3469_1157_P->S 0.000199681 336 chr5:79752295:C:A 4620_3706_1236_Q->K 0.000599042 336 chr5:79752368:G:A 4620_3779_1260_R->Q 0.000199681 336 chr5:79752773:G:A 4620_3805_1269_V->I 0.000399361 336 chr5:79752885:A:G 4620_3917_1306_N->S 0.000199681 336 chr5:79752909:A:G 4620_3941_1314_K->R 0.000199681 336 chr5:79755260:A:G 4620_3971_1324_N->S 0.000998403 336 chr5:79755278:C:G 4620_3989_1330_S->C 0.000199681 336 chr5:79768604:C:G 4620_4049_1350_P->R 0.000599042 336 chr5:79768610:C:T 4620_4055_1352_T->I 0.000199681 336 chr5:79768625:G:A 4620_4070_1357_R->Q 0.00239617 336 chr5:79768699:G:A 4620_4144_1382_V->M 0.000199681 336 chr5:79769638:C:T 4620_4253_1418_A->V 0.000199681 336 chr5:79769662:T:C 4620_4277_1426_I->T 0.000199681 336 chr5:79770488:T:A 4620_4300_1434_Y->N 0.000199681 336 chr5:79770561:G:A 4620_4373_1458_C->Y 0.000199681 336 chr5:79770566:G:A 4620_4378_1460_A->T 0.000199681 336 chr5:79773048:A:G 4620_4472_1491_Q->R 0.000399361 336 chr5:79773051:C:T 4620_4475_1492_A->V 0.000199681 336 chr5:79773132:C:A 4620_4556_1519_T->N 0.00399361 336 na12878 Variants: 336 chr5:79734297:T:C 4620_1793_598_I->T 336 chr5:79745469:A:G 4620_3163_1055_S->G 336 chr5:79733079:T:C 4620_575_192_I->T 336 snyder Variants: 336 chr5:79734297:T:C 4620_1793_598_I->T 336 chr5:79745469:A:G 4620_3163_1055_S->G 336 chr5:79733079:T:C 4620_575_192_I->T 337 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164307_ENST00000296754 gene_Name: ERAP1_HUMAN 337 list of pdbs: 337 3RJO pdb_description: 21-Dec-11 X-ray 2.300 Crystal structure of erap1 peptide binding domain 337 3QNF pdb_description: 23-Feb-11 X-ray 3.000 Crystal structure of the open state of human endoplasmic ret aminopeptidase 1 erap1 337 3MDJ pdb_description: 30-Mar-11 X-ray 2.950 Er aminopeptidase, erap1, bound to the zinc aminopeptidase i bestatin 337 2YD0 pdb_description: 13-Apr-11 X-ray 2.700 Crystal structure of the soluble domain of human endoplasmic reticulum aminopeptidase 1 erap1 337 Zimmer Variants: 337 chr5:96118852:G:C 2847_2188_730_Q->E 337 chr5:96118866:C:T 2847_2174_725_R->Q 337 chr5:96122210:C:T 2847_1723_575_D->N 337 chr5:96124330:T:C 2847_1583_528_K->R 337 chr5:96129535:T:C 2847_1045_349_M->V 337 chr5:96139250:C:G 2847_380_127_R->P 337 chr5:96130836:T:C 2847_828_276_I->M 337 HGMD Variants: 337 chr5:96118834:A:G 2847_2206_736_C->R 337 chr5:96118852:G:C 2847_2188_730_Q->E 337 chr5:96118866:C:T 2847_2174_725_R->Q 337 chr5:96121496:C:T 2847_1939_647_V->I 337 chr5:96122210:C:T 2847_1723_575_D->N 337 chr5:96124330:T:C 2847_1583_528_K->R 337 chr5:96129535:T:C 2847_1045_349_M->V 337 chr5:96130836:T:C 2847_828_276_I->M 337 chr5:96139250:C:G 2847_380_127_R->P 337 chr5:96139464:C:T 2847_166_56_E->K 337 oneKG Variants: 337 chr5:96118811:G:A,T 2847_2229_743_C->* 0.00339457 337 chr5:96119739:G:C 2847_1989_663_Y->* 0.000399361 337 chr5:96121502:G:A 2847_1933_645_Q->* 0.000199681 337 chr5:96126019:G:A 2847_1504_502_Q->* 0.000199681 337 chr5:96129214:C:T 2847_1077_359_W->* 0.000199681 337 chr5:96112108:G:T 2847_2818_940_H->N 0.000199681 337 chr5:96112114:G:A 2847_2812_938_L->F 0.00199681 337 chr5:96112182:A:G 2847_2744_915_I->T 0.00219649 337 chr5:96116137:C:T 2847_2660_887_R->Q 0.000399361 337 chr5:96116140:G:A 2847_2657_886_T->I 0.000199681 337 chr5:96116897:A:C 2847_2453_818_L->R 0.000199681 337 chr5:96117485:T:C 2847_2359_787_S->G 0.000199681 337 chr5:96117548:C:T 2847_2296_766_D->N 0.000199681 337 chr5:96118775:C:G 2847_2265_755_K->N 0.000199681 337 chr5:96118795:C:T 2847_2245_749_G->S 0.000199681 337 chr5:96118832:A:C 2847_2208_736_C->W 0.000199681 337 chr5:96118852:G:C 2847_2188_730_Q->E 0.320687 337 chr5:96118866:C:T 2847_2174_725_R->Q 0.100639 337 chr5:96118903:T:G 2847_2137_713_K->Q 0.000199681 337 chr5:96118908:A:G 2847_2132_711_I->T 0.000399361 337 chr5:96121496:C:T 2847_1939_647_V->I 0.00159744 337 chr5:96121526:C:T 2847_1909_637_A->T 0.000199681 337 chr5:96121596:C:A 2847_1839_613_E->D 0.000199681 337 chr5:96121672:A:C 2847_1763_588_V->G 0.0091853 337 chr5:96122209:T:C 2847_1724_575_D->G 0.00599042 337 chr5:96122210:C:T 2847_1723_575_D->N 0.10623 337 chr5:96124243:G:A 2847_1670_557_P->L 0.000199681 337 chr5:96124247:C:T 2847_1666_556_A->T 0.000399361 337 chr5:96124330:T:C 2847_1583_528_K->R 0.403754 337 chr5:96124373:C:T 2847_1540_514_G->R 0.00479233 337 chr5:96126001:A:T 2847_1522_508_S->T 0.000199681 337 chr5:96126037:C:T 2847_1486_496_G->S 0.000399361 337 chr5:96126070:T:C 2847_1453_485_I->V 0.000199681 337 chr5:96126294:T:A 2847_1373_458_K->I 0.000199681 337 chr5:96126328:T:C 2847_1339_447_M->V 0.000199681 337 chr5:96127855:A:T 2847_1229_410_V->E 0.000199681 337 chr5:96127868:C:T 2847_1216_406_D->N 0.000399361 337 chr5:96129535:T:C 2847_1045_349_M->V 0.105032 337 chr5:96129543:C:T 2847_1037_346_G->D 0.103634 337 chr5:96129598:T:C 2847_982_328_R->G 0.000199681 337 chr5:96129607:T:A 2847_973_325_T->S 0.000199681 337 chr5:96129625:T:C 2847_955_319_M->V 0.000199681 337 chr5:96129631:C:T 2847_949_317_G->S 0.000199681 337 chr5:96130765:G:A 2847_899_300_P->L 0.000199681 337 chr5:96130769:T:G 2847_895_299_I->L 0.00139776 337 chr5:96130836:T:C 2847_828_276_I->M 0.226637 337 chr5:96130859:C:T 2847_805_269_V->I 0.000199681 337 chr5:96132883:C:A 2847_793_265_V->F 0.000399361 337 chr5:96136623:C:T 2847_605_202_S->N 0.000199681 337 chr5:96136674:G:A 2847_554_185_T->I 0.000199681 337 chr5:96136677:G:C 2847_551_184_P->R 0.00658946 337 chr5:96139107:T:A 2847_523_175_R->W 0.000199681 337 chr5:96139149:C:T 2847_481_161_G->R 0.000399361 337 chr5:96139163:G:A 2847_467_156_S->L 0.000199681 337 chr5:96139205:C:A 2847_425_142_G->V 0.000199681 337 chr5:96139206:C:T 2847_424_142_G->R 0.000199681 337 chr5:96139247:T:C 2847_383_128_Q->R 0.000199681 337 chr5:96139250:C:G 2847_380_127_R->P 0.4375 337 chr5:96139251:G:C 2847_379_127_R->G 0.000199681 337 chr5:96139428:G:A 2847_202_68_H->Y 0.000599042 337 chr5:96139464:C:T 2847_166_56_E->K 0.0858626 337 chr5:96139472:C:T 2847_158_53_R->Q 0.000199681 337 chr5:96139562:A:G 2847_68_23_L->P 0.000199681 337 chr5:96139595:G:A 2847_35_12_T->I 0.0714856 337 na12878 Variants: 337 chr5:96118852:G:C 2847_2188_730_Q->E 337 chr5:96124330:T:C 2847_1583_528_K->R 337 chr5:96139250:C:G 2847_380_127_R->P 337 chr5:96139595:G:A 2847_35_12_T->I 337 chr5:96130836:T:C 2847_828_276_I->M 337 snyder Variants: 337 chr5:96118852:G:C 2847_2188_730_Q->E 337 chr5:96118866:C:T 2847_2174_725_R->Q 337 chr5:96122210:C:T 2847_1723_575_D->N 337 chr5:96124330:T:C 2847_1583_528_K->R 337 chr5:96129535:T:C 2847_1045_349_M->V 337 chr5:96139250:C:G 2847_380_127_R->P 338 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164307_ENST00000443439 gene_Name: ERAP1_HUMAN 338 list of pdbs: 338 3RJO pdb_description: 21-Dec-11 X-ray 2.300 Crystal structure of erap1 peptide binding domain 338 3QNF pdb_description: 23-Feb-11 X-ray 3.000 Crystal structure of the open state of human endoplasmic ret aminopeptidase 1 erap1 338 3MDJ pdb_description: 30-Mar-11 X-ray 2.950 Er aminopeptidase, erap1, bound to the zinc aminopeptidase i bestatin 338 2YD0 pdb_description: 13-Apr-11 X-ray 2.700 Crystal structure of the soluble domain of human endoplasmic reticulum aminopeptidase 1 erap1 338 Zimmer Variants: 338 chr5:96118852:G:C 2826_2188_730_Q->E;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96118866:C:T 2826_2174_725_R->Q;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96122210:C:T 2826_1723_575_D->N;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96124330:T:C 2826_1583_528_K->R;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96129535:T:C 2826_1045_349_M->V;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96139250:C:G 2826_380_127_R->P;HUB=REG;GENE=ERAP1;CDSS=3;DBRECUR=ERAP1 338 chr5:96130836:T:C 2826_828_276_I->M;HUB=REG;GENE=ERAP1;CDSS=2;DBRECUR=ERAP1 338 HGMD Variants: 338 chr5:96118834:A:G 2826_2206_736_C->R 338 chr5:96118852:G:C 2826_2188_730_Q->E 338 chr5:96118866:C:T 2826_2174_725_R->Q 338 chr5:96121496:C:T 2826_1939_647_V->I 338 chr5:96122210:C:T 2826_1723_575_D->N 338 chr5:96124330:T:C 2826_1583_528_K->R 338 chr5:96129535:T:C 2826_1045_349_M->V 338 chr5:96130836:T:C 2826_828_276_I->M 338 chr5:96139250:C:G 2826_380_127_R->P 338 chr5:96139464:C:T 2826_166_56_E->K 338 oneKG Variants: 338 chr5:96118811:G:A,T 2826_2229_743_C->* 0.00339457 338 chr5:96119739:G:C 2826_1989_663_Y->* 0.000399361 338 chr5:96121502:G:A 2826_1933_645_Q->* 0.000199681 338 chr5:96126019:G:A 2826_1504_502_Q->* 0.000199681 338 chr5:96129214:C:T 2826_1077_359_W->* 0.000199681 338 chr5:96112108:G:T 2826_2818_940_R->S 0.000199681 338 chr5:96112114:G:A 2826_2812_938_L->F 0.00199681 338 chr5:96112182:A:G 2826_2744_915_I->T 0.00219649 338 chr5:96116137:C:T 2826_2660_887_R->Q 0.000399361 338 chr5:96116140:G:A 2826_2657_886_T->I 0.000199681 338 chr5:96116897:A:C 2826_2453_818_L->R 0.000199681 338 chr5:96117485:T:C 2826_2359_787_S->G 0.000199681 338 chr5:96117548:C:T 2826_2296_766_D->N 0.000199681 338 chr5:96118775:C:G 2826_2265_755_K->N 0.000199681 338 chr5:96118795:C:T 2826_2245_749_G->S 0.000199681 338 chr5:96118832:A:C 2826_2208_736_C->W 0.000199681 338 chr5:96118852:G:C 2826_2188_730_Q->E 0.320687 338 chr5:96118866:C:T 2826_2174_725_R->Q 0.100639 338 chr5:96118903:T:G 2826_2137_713_K->Q 0.000199681 338 chr5:96118908:A:G 2826_2132_711_I->T 0.000399361 338 chr5:96121496:C:T 2826_1939_647_V->I 0.00159744 338 chr5:96121526:C:T 2826_1909_637_A->T 0.000199681 338 chr5:96121596:C:A 2826_1839_613_E->D 0.000199681 338 chr5:96121672:A:C 2826_1763_588_V->G 0.0091853 338 chr5:96122209:T:C 2826_1724_575_D->G 0.00599042 338 chr5:96122210:C:T 2826_1723_575_D->N 0.10623 338 chr5:96124243:G:A 2826_1670_557_P->L 0.000199681 338 chr5:96124247:C:T 2826_1666_556_A->T 0.000399361 338 chr5:96124330:T:C 2826_1583_528_K->R 0.403754 338 chr5:96124373:C:T 2826_1540_514_G->R 0.00479233 338 chr5:96126001:A:T 2826_1522_508_S->T 0.000199681 338 chr5:96126037:C:T 2826_1486_496_G->S 0.000399361 338 chr5:96126070:T:C 2826_1453_485_I->V 0.000199681 338 chr5:96126294:T:A 2826_1373_458_K->I 0.000199681 338 chr5:96126328:T:C 2826_1339_447_M->V 0.000199681 338 chr5:96127855:A:T 2826_1229_410_V->E 0.000199681 338 chr5:96127868:C:T 2826_1216_406_D->N 0.000399361 338 chr5:96129535:T:C 2826_1045_349_M->V 0.105032 338 chr5:96129543:C:T 2826_1037_346_G->D 0.103634 338 chr5:96129598:T:C 2826_982_328_R->G 0.000199681 338 chr5:96129607:T:A 2826_973_325_T->S 0.000199681 338 chr5:96129625:T:C 2826_955_319_M->V 0.000199681 338 chr5:96129631:C:T 2826_949_317_G->S 0.000199681 338 chr5:96130765:G:A 2826_899_300_P->L 0.000199681 338 chr5:96130769:T:G 2826_895_299_I->L 0.00139776 338 chr5:96130836:T:C 2826_828_276_I->M 0.226637 338 chr5:96130859:C:T 2826_805_269_V->I 0.000199681 338 chr5:96132883:C:A 2826_793_265_V->F 0.000399361 338 chr5:96136623:C:T 2826_605_202_S->N 0.000199681 338 chr5:96136674:G:A 2826_554_185_T->I 0.000199681 338 chr5:96136677:G:C 2826_551_184_P->R 0.00658946 338 chr5:96139107:T:A 2826_523_175_R->W 0.000199681 338 chr5:96139149:C:T 2826_481_161_G->R 0.000399361 338 chr5:96139163:G:A 2826_467_156_S->L 0.000199681 338 chr5:96139205:C:A 2826_425_142_G->V 0.000199681 338 chr5:96139206:C:T 2826_424_142_G->R 0.000199681 338 chr5:96139247:T:C 2826_383_128_Q->R 0.000199681 338 chr5:96139250:C:G 2826_380_127_R->P 0.4375 338 chr5:96139251:G:C 2826_379_127_R->G 0.000199681 338 chr5:96139428:G:A 2826_202_68_H->Y 0.000599042 338 chr5:96139464:C:T 2826_166_56_E->K 0.0858626 338 chr5:96139472:C:T 2826_158_53_R->Q 0.000199681 338 chr5:96139562:A:G 2826_68_23_L->P 0.000199681 338 chr5:96139595:G:A 2826_35_12_T->I 0.0714856 338 na12878 Variants: 338 chr5:96118852:G:C 2826_2188_730_Q->E 338 chr5:96124330:T:C 2826_1583_528_K->R 338 chr5:96139250:C:G 2826_380_127_R->P 338 chr5:96139595:G:A 2826_35_12_T->I 338 chr5:96130836:T:C 2826_828_276_I->M 338 snyder Variants: 338 chr5:96118852:G:C 2826_2188_730_Q->E 338 chr5:96118866:C:T 2826_2174_725_R->Q 338 chr5:96122210:C:T 2826_1723_575_D->N 338 chr5:96124330:T:C 2826_1583_528_K->R 338 chr5:96129535:T:C 2826_1045_349_M->V 338 chr5:96139250:C:G 2826_380_127_R->P 339 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000009413_ENST00000368802 gene_Name: DPOLZ_HUMAN 339 list of pdbs: 339 4GK5 pdb_description: 13-Mar-13 X-ray 3.210 Crystal structure of human rev3-rev7-rev1-polkappa complex 339 4GK0 pdb_description: 13-Mar-13 X-ray 2.700 Crystal structure of human rev3-rev7-rev1 complex 339 4EXT pdb_description: 08-May-13 X-ray 1.900 Structure of polymerase-interacting domain of human rev1 in with translesional synthesis polymerase zeta 339 3VU7 pdb_description: 08-Aug-12 X-ray 2.800 Crystal structure of rev1-rev7-rev3 ternary complex 339 3ABE pdb_description: 16-Feb-10 X-ray 2.600 Structure of human rev7 in complex with a human rev3 fragmen tetragonal crystal 339 3ABD pdb_description: 16-Feb-10 X-ray 1.900 Structure of human rev7 in complex with a human rev3 fragmen monoclinic crystal 339 Zimmer Variants: 339 chr6:111695887:G:A 9393_3671_1224_T->I 339 HGMD Variants: 339 chr6:111694124:C:G 9393_5434_1812_D->H 339 chr6:111696091:T:C 9393_3467_1156_Y->C 339 oneKG Variants: 339 chr6:111621295:A:G 9393_9317_3106_V->A 0.000199681 339 chr6:111621328:C:T 9393_9284_3095_R->Q 0.000199681 339 chr6:111628626:C:T 9393_9190_3064_V->I 0.057508 339 chr6:111628716:A:C 9393_9100_3034_S->A 0.000399361 339 chr6:111628730:C:T 9393_9086_3029_R->Q 0.00199681 339 chr6:111631189:A:G 9393_8909_2970_V->A 0.000199681 339 chr6:111631219:A:G 9393_8879_2960_V->A 0.000199681 339 chr6:111631282:C:T 9393_8816_2939_R->Q 0.000399361 339 chr6:111632402:A:G 9393_8665_2889_Y->H 0.000199681 339 chr6:111634568:G:A 9393_8591_2864_P->L 0.000199681 339 chr6:111643782:C:T 9393_8341_2781_D->N 0.000199681 339 chr6:111643838:C:T 9393_8285_2762_R->Q 0.00259585 339 chr6:111650832:C:T 9393_8144_2715_R->Q 0.000199681 339 chr6:111652898:T:C 9393_8015_2672_N->S 0.000199681 339 chr6:111652912:G:C 9393_8001_2667_I->M 0.000399361 339 chr6:111652949:A:G 9393_7964_2655_V->A 0.000199681 339 chr6:111654345:G:C 9393_7906_2636_H->D 0.000199681 339 chr6:111654440:C:A 9393_7811_2604_R->L 0.000199681 339 chr6:111654567:G:A 9393_7684_2562_R->C 0.000199681 339 chr6:111656778:C:T 9393_7574_2525_R->H 0.000199681 339 chr6:111665191:C:T 9393_7475_2492_R->H 0.000399361 339 chr6:111670468:T:C 9393_7372_2458_I->V 0.000199681 339 chr6:111672933:G:T 9393_7246_2416_Q->K 0.000199681 339 chr6:111685180:T:C 9393_6755_2252_N->S 0.000199681 339 chr6:111688511:G:T 9393_6480_2160_F->L 0.000199681 339 chr6:111688600:G:T 9393_6391_2131_P->T 0.000798722 339 chr6:111688647:A:C 9393_6344_2115_I->S 0.000599042 339 chr6:111688653:T:C 9393_6338_2113_Y->C 0.000798722 339 chr6:111688681:C:T 9393_6310_2104_E->K 0.000798722 339 chr6:111688746:G:A 9393_6245_2082_T->M 0.000199681 339 chr6:111688766:A:C 9393_6225_2075_I->M 0.000199681 339 chr6:111688938:C:T 9393_6053_2018_R->H 0.000798722 339 chr6:111688944:T:C 9393_6047_2016_Y->C 0.000199681 339 chr6:111688947:T:A 9393_6044_2015_E->V 0.000399361 339 chr6:111688969:C:T 9393_6022_2008_V->M 0.000199681 339 chr6:111689034:A:G 9393_5957_1986_M->T 0.000399361 339 chr6:111689050:T:G 9393_5941_1981_S->R 0.000199681 339 chr6:111689062:T:G 9393_5929_1977_N->H 0.000199681 339 chr6:111689082:C:T 9393_5909_1970_R->H 0.0267572 339 chr6:111689083:G:A 9393_5908_1970_R->C 0.000199681 339 chr6:111689089:G:A 9393_5902_1968_P->S 0.000199681 339 chr6:111689143:G:A 9393_5848_1950_R->C 0.000199681 339 chr6:111689196:C:T 9393_5795_1932_R->Q 0.000199681 339 chr6:111693952:C:A 9393_5606_1869_S->I 0.000599042 339 chr6:111694063:A:G 9393_5495_1832_V->A 0.000199681 339 chr6:111694097:T:C 9393_5461_1821_I->V 0.000199681 339 chr6:111694114:T:C 9393_5444_1815_N->S 0.000199681 339 chr6:111694124:C:G 9393_5434_1812_D->H 0.0091853 339 chr6:111694187:G:A 9393_5371_1791_P->S 0.0407348 339 chr6:111694221:C:A 9393_5337_1779_R->S 0.000199681 339 chr6:111694295:A:C 9393_5263_1755_S->A 0.000199681 339 chr6:111694340:G:A 9393_5218_1740_R->C 0.000199681 339 chr6:111694343:G:A 9393_5215_1739_R->C 0.000199681 339 chr6:111694363:G:C 9393_5195_1732_T->S 0.000399361 339 chr6:111694478:T:C 9393_5080_1694_N->D 0.000199681 339 chr6:111694693:A:G 9393_4865_1622_I->T 0.000199681 339 chr6:111694799:T:C 9393_4759_1587_R->G 0.000199681 339 chr6:111694841:G:A 9393_4717_1573_R->W 0.000199681 339 chr6:111694916:G:C 9393_4642_1548_Q->E 0.000199681 339 chr6:111695035:T:C 9393_4523_1508_Q->R 0.000199681 339 chr6:111695069:A:T 9393_4489_1497_S->T 0.000199681 339 chr6:111695110:A:T 9393_4448_1483_M->K 0.000199681 339 chr6:111695236:G:A 9393_4322_1441_T->I 0.000199681 339 chr6:111695270:C:T 9393_4288_1430_V->M 0.000798722 339 chr6:111695281:T:C 9393_4277_1426_Q->R 0.000599042 339 chr6:111695344:T:C 9393_4214_1405_N->S 0.000199681 339 chr6:111695444:T:C 9393_4114_1372_T->A 0.00119808 339 chr6:111695463:T:A 9393_4095_1365_L->F 0.000199681 339 chr6:111695479:T:G 9393_4079_1360_D->A 0.000199681 339 chr6:111695524:A:T 9393_4034_1345_M->K 0.000199681 339 chr6:111695525:T:C 9393_4033_1345_M->V 0.000998403 339 chr6:111695554:T:C 9393_4004_1335_N->S 0.000199681 339 chr6:111695579:T:C 9393_3979_1327_I->V 0.00299521 339 chr6:111695624:G:A 9393_3934_1312_P->S 0.000199681 339 chr6:111695631:C:A 9393_3927_1309_Q->H 0.0225639 339 chr6:111695653:C:G 9393_3905_1302_S->T 0.00199681 339 chr6:111695816:C:T 9393_3742_1248_V->M 0.000199681 339 chr6:111695863:T:A 9393_3695_1232_K->I 0.000798722 339 chr6:111695887:G:A 9393_3671_1224_T->I 0.413538 339 chr6:111695899:G:A 9393_3659_1220_S->L 0.0353435 339 chr6:111695954:C:T 9393_3604_1202_D->N 0.000399361 339 chr6:111695999:C:T 9393_3559_1187_V->I 0.000798722 339 chr6:111696070:C:T 9393_3488_1163_R->H 0.000599042 339 chr6:111696084:C:G 9393_3474_1158_K->N 0.000599042 339 chr6:111696091:T:C 9393_3467_1156_Y->C 0.0403355 339 chr6:111696095:C:T 9393_3463_1155_V->I 0.000199681 339 chr6:111696116:T:C 9393_3442_1148_M->V 0.000199681 339 chr6:111696118:G:C 9393_3440_1147_A->G 0.000199681 339 chr6:111696119:C:T 9393_3439_1147_A->T 0.000199681 339 chr6:111696131:C:T 9393_3427_1143_A->T 0.000199681 339 chr6:111696203:T:C 9393_3355_1119_S->G 0.000399361 339 chr6:111696224:A:G 9393_3334_1112_F->L 0.000399361 339 chr6:111696237:C:T 9393_3321_1107_M->I 0.000199681 339 chr6:111696280:T:C 9393_3278_1093_N->S 0.000199681 339 chr6:111696473:C:T 9393_3085_1029_D->N 0.000199681 339 chr6:111696550:T:C 9393_3008_1003_Q->R 0.000399361 339 chr6:111696640:G:A 9393_2918_973_P->L 0.000199681 339 chr6:111696913:C:T 9393_2645_882_R->H 0.000199681 339 chr6:111697072:C:T 9393_2486_829_R->Q 0.000199681 339 chr6:111697073:G:A 9393_2485_829_R->W 0.000199681 339 chr6:111697090:G:A 9393_2468_823_P->L 0.000798722 339 chr6:111697106:T:C 9393_2452_818_T->A 0.000798722 339 chr6:111697421:T:A 9393_2137_713_N->Y 0.000199681 339 chr6:111697471:T:A 9393_2087_696_H->L 0.00559105 339 chr6:111697474:C:T 9393_2084_695_R->H 0.000199681 339 chr6:111697480:A:G 9393_2078_693_M->T 0.000199681 339 chr6:111697525:T:C 9393_2033_678_Y->C 0.000199681 339 chr6:111697661:T:C 9393_1897_633_S->G 0.00758786 339 chr6:111697675:G:C 9393_1883_628_P->R 0.000199681 339 chr6:111697685:T:C 9393_1873_625_M->V 0.000199681 339 chr6:111697688:A:C 9393_1870_624_S->A 0.000998403 339 chr6:111697741:G:A 9393_1817_606_T->I 0.0 339 chr6:111698921:G:T 9393_1580_527_T->N 0.000199681 339 chr6:111699015:T:C 9393_1486_496_T->A 0.000599042 339 chr6:111701252:T:C 9393_1387_463_M->V 0.000199681 339 chr6:111701310:A:C 9393_1329_443_N->K 0.000199681 339 chr6:111701360:G:A 9393_1279_427_R->W 0.000199681 339 chr6:111702530:A:T 9393_1214_405_F->Y 0.000399361 339 chr6:111702533:A:C 9393_1211_404_V->G 0.000199681 339 chr6:111702543:C:T 9393_1201_401_E->K 0.000199681 339 chr6:111702554:T:G 9393_1190_397_Q->P 0.00199681 339 chr6:111709004:T:C 9393_1060_354_M->V 0.000199681 339 chr6:111710311:T:G 9393_860_287_Q->P 0.000599042 339 chr6:111710402:C:T 9393_769_257_G->R 0.000199681 339 chr6:111714175:C:T 9393_566_189_S->N 0.000199681 339 chr6:111726735:T:C 9393_503_168_N->S 0.000199681 339 chr6:111737655:G:C 9393_160_54_L->V 0.000199681 339 chr6:111804022:G:C 9393_70_24_Q->E 0.000199681 339 na12878 Variants: 339 chr6:111695887:G:A 9393_3671_1224_T->I 339 snyder Variants: 339 chr6:111695887:G:A 9393_3671_1224_T->I 340 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000009413_ENST00000368805 gene_Name: DPOLZ_HUMAN 340 list of pdbs: 340 4GK5 pdb_description: 13-Mar-13 X-ray 3.210 Crystal structure of human rev3-rev7-rev1-polkappa complex 340 4GK0 pdb_description: 13-Mar-13 X-ray 2.700 Crystal structure of human rev3-rev7-rev1 complex 340 4EXT pdb_description: 08-May-13 X-ray 1.900 Structure of polymerase-interacting domain of human rev1 in with translesional synthesis polymerase zeta 340 3VU7 pdb_description: 08-Aug-12 X-ray 2.800 Crystal structure of rev1-rev7-rev3 ternary complex 340 3ABE pdb_description: 16-Feb-10 X-ray 2.600 Structure of human rev7 in complex with a human rev3 fragmen tetragonal crystal 340 3ABD pdb_description: 16-Feb-10 X-ray 1.900 Structure of human rev7 in complex with a human rev3 fragmen monoclinic crystal 340 Zimmer Variants: 340 chr6:111695887:G:A 9393_3671_1224_T->I 340 HGMD Variants: 340 chr6:111694124:C:G 9393_5434_1812_D->H 340 chr6:111696091:T:C 9393_3467_1156_Y->C 340 oneKG Variants: 340 chr6:111621295:A:G 9393_9317_3106_V->A 0.000199681 340 chr6:111621328:C:T 9393_9284_3095_R->Q 0.000199681 340 chr6:111628626:C:T 9393_9190_3064_V->I 0.057508 340 chr6:111628716:A:C 9393_9100_3034_S->A 0.000399361 340 chr6:111628730:C:T 9393_9086_3029_R->Q 0.00199681 340 chr6:111631189:A:G 9393_8909_2970_V->A 0.000199681 340 chr6:111631219:A:G 9393_8879_2960_V->A 0.000199681 340 chr6:111631282:C:T 9393_8816_2939_R->Q 0.000399361 340 chr6:111632402:A:G 9393_8665_2889_Y->H 0.000199681 340 chr6:111634568:G:A 9393_8591_2864_P->L 0.000199681 340 chr6:111643782:C:T 9393_8341_2781_D->N 0.000199681 340 chr6:111643838:C:T 9393_8285_2762_R->Q 0.00259585 340 chr6:111650832:C:T 9393_8144_2715_R->Q 0.000199681 340 chr6:111652898:T:C 9393_8015_2672_N->S 0.000199681 340 chr6:111652912:G:C 9393_8001_2667_I->M 0.000399361 340 chr6:111652949:A:G 9393_7964_2655_V->A 0.000199681 340 chr6:111654345:G:C 9393_7906_2636_H->D 0.000199681 340 chr6:111654440:C:A 9393_7811_2604_R->L 0.000199681 340 chr6:111654567:G:A 9393_7684_2562_R->C 0.000199681 340 chr6:111656778:C:T 9393_7574_2525_R->H 0.000199681 340 chr6:111665191:C:T 9393_7475_2492_R->H 0.000399361 340 chr6:111670468:T:C 9393_7372_2458_I->V 0.000199681 340 chr6:111672933:G:T 9393_7246_2416_Q->K 0.000199681 340 chr6:111685180:T:C 9393_6755_2252_N->S 0.000199681 340 chr6:111688511:G:T 9393_6480_2160_F->L 0.000199681 340 chr6:111688600:G:T 9393_6391_2131_P->T 0.000798722 340 chr6:111688647:A:C 9393_6344_2115_I->S 0.000599042 340 chr6:111688653:T:C 9393_6338_2113_Y->C 0.000798722 340 chr6:111688681:C:T 9393_6310_2104_E->K 0.000798722 340 chr6:111688746:G:A 9393_6245_2082_T->M 0.000199681 340 chr6:111688766:A:C 9393_6225_2075_I->M 0.000199681 340 chr6:111688938:C:T 9393_6053_2018_R->H 0.000798722 340 chr6:111688944:T:C 9393_6047_2016_Y->C 0.000199681 340 chr6:111688947:T:A 9393_6044_2015_E->V 0.000399361 340 chr6:111688969:C:T 9393_6022_2008_V->M 0.000199681 340 chr6:111689034:A:G 9393_5957_1986_M->T 0.000399361 340 chr6:111689050:T:G 9393_5941_1981_S->R 0.000199681 340 chr6:111689062:T:G 9393_5929_1977_N->H 0.000199681 340 chr6:111689082:C:T 9393_5909_1970_R->H 0.0267572 340 chr6:111689083:G:A 9393_5908_1970_R->C 0.000199681 340 chr6:111689089:G:A 9393_5902_1968_P->S 0.000199681 340 chr6:111689143:G:A 9393_5848_1950_R->C 0.000199681 340 chr6:111689196:C:T 9393_5795_1932_R->Q 0.000199681 340 chr6:111693952:C:A 9393_5606_1869_S->I 0.000599042 340 chr6:111694063:A:G 9393_5495_1832_V->A 0.000199681 340 chr6:111694097:T:C 9393_5461_1821_I->V 0.000199681 340 chr6:111694114:T:C 9393_5444_1815_N->S 0.000199681 340 chr6:111694124:C:G 9393_5434_1812_D->H 0.0091853 340 chr6:111694187:G:A 9393_5371_1791_P->S 0.0407348 340 chr6:111694221:C:A 9393_5337_1779_R->S 0.000199681 340 chr6:111694295:A:C 9393_5263_1755_S->A 0.000199681 340 chr6:111694340:G:A 9393_5218_1740_R->C 0.000199681 340 chr6:111694343:G:A 9393_5215_1739_R->C 0.000199681 340 chr6:111694363:G:C 9393_5195_1732_T->S 0.000399361 340 chr6:111694478:T:C 9393_5080_1694_N->D 0.000199681 340 chr6:111694693:A:G 9393_4865_1622_I->T 0.000199681 340 chr6:111694799:T:C 9393_4759_1587_R->G 0.000199681 340 chr6:111694841:G:A 9393_4717_1573_R->W 0.000199681 340 chr6:111694916:G:C 9393_4642_1548_Q->E 0.000199681 340 chr6:111695035:T:C 9393_4523_1508_Q->R 0.000199681 340 chr6:111695069:A:T 9393_4489_1497_S->T 0.000199681 340 chr6:111695110:A:T 9393_4448_1483_M->K 0.000199681 340 chr6:111695236:G:A 9393_4322_1441_T->I 0.000199681 340 chr6:111695270:C:T 9393_4288_1430_V->M 0.000798722 340 chr6:111695281:T:C 9393_4277_1426_Q->R 0.000599042 340 chr6:111695344:T:C 9393_4214_1405_N->S 0.000199681 340 chr6:111695444:T:C 9393_4114_1372_T->A 0.00119808 340 chr6:111695463:T:A 9393_4095_1365_L->F 0.000199681 340 chr6:111695479:T:G 9393_4079_1360_D->A 0.000199681 340 chr6:111695524:A:T 9393_4034_1345_M->K 0.000199681 340 chr6:111695525:T:C 9393_4033_1345_M->V 0.000998403 340 chr6:111695554:T:C 9393_4004_1335_N->S 0.000199681 340 chr6:111695579:T:C 9393_3979_1327_I->V 0.00299521 340 chr6:111695624:G:A 9393_3934_1312_P->S 0.000199681 340 chr6:111695631:C:A 9393_3927_1309_Q->H 0.0225639 340 chr6:111695653:C:G 9393_3905_1302_S->T 0.00199681 340 chr6:111695816:C:T 9393_3742_1248_V->M 0.000199681 340 chr6:111695863:T:A 9393_3695_1232_K->I 0.000798722 340 chr6:111695887:G:A 9393_3671_1224_T->I 0.413538 340 chr6:111695899:G:A 9393_3659_1220_S->L 0.0353435 340 chr6:111695954:C:T 9393_3604_1202_D->N 0.000399361 340 chr6:111695999:C:T 9393_3559_1187_V->I 0.000798722 340 chr6:111696070:C:T 9393_3488_1163_R->H 0.000599042 340 chr6:111696084:C:G 9393_3474_1158_K->N 0.000599042 340 chr6:111696091:T:C 9393_3467_1156_Y->C 0.0403355 340 chr6:111696095:C:T 9393_3463_1155_V->I 0.000199681 340 chr6:111696116:T:C 9393_3442_1148_M->V 0.000199681 340 chr6:111696118:G:C 9393_3440_1147_A->G 0.000199681 340 chr6:111696119:C:T 9393_3439_1147_A->T 0.000199681 340 chr6:111696131:C:T 9393_3427_1143_A->T 0.000199681 340 chr6:111696203:T:C 9393_3355_1119_S->G 0.000399361 340 chr6:111696224:A:G 9393_3334_1112_F->L 0.000399361 340 chr6:111696237:C:T 9393_3321_1107_M->I 0.000199681 340 chr6:111696280:T:C 9393_3278_1093_N->S 0.000199681 340 chr6:111696473:C:T 9393_3085_1029_D->N 0.000199681 340 chr6:111696550:T:C 9393_3008_1003_Q->R 0.000399361 340 chr6:111696640:G:A 9393_2918_973_P->L 0.000199681 340 chr6:111696913:C:T 9393_2645_882_R->H 0.000199681 340 chr6:111697072:C:T 9393_2486_829_R->Q 0.000199681 340 chr6:111697073:G:A 9393_2485_829_R->W 0.000199681 340 chr6:111697090:G:A 9393_2468_823_P->L 0.000798722 340 chr6:111697106:T:C 9393_2452_818_T->A 0.000798722 340 chr6:111697421:T:A 9393_2137_713_N->Y 0.000199681 340 chr6:111697471:T:A 9393_2087_696_H->L 0.00559105 340 chr6:111697474:C:T 9393_2084_695_R->H 0.000199681 340 chr6:111697480:A:G 9393_2078_693_M->T 0.000199681 340 chr6:111697525:T:C 9393_2033_678_Y->C 0.000199681 340 chr6:111697661:T:C 9393_1897_633_S->G 0.00758786 340 chr6:111697675:G:C 9393_1883_628_P->R 0.000199681 340 chr6:111697685:T:C 9393_1873_625_M->V 0.000199681 340 chr6:111697688:A:C 9393_1870_624_S->A 0.000998403 340 chr6:111697741:G:A 9393_1817_606_T->I 0.0 340 chr6:111698921:G:T 9393_1580_527_T->N 0.000199681 340 chr6:111699015:T:C 9393_1486_496_T->A 0.000599042 340 chr6:111701252:T:C 9393_1387_463_M->V 0.000199681 340 chr6:111701310:A:C 9393_1329_443_N->K 0.000199681 340 chr6:111701360:G:A 9393_1279_427_R->W 0.000199681 340 chr6:111702530:A:T 9393_1214_405_F->Y 0.000399361 340 chr6:111702533:A:C 9393_1211_404_V->G 0.000199681 340 chr6:111702543:C:T 9393_1201_401_E->K 0.000199681 340 chr6:111702554:T:G 9393_1190_397_Q->P 0.00199681 340 chr6:111709004:T:C 9393_1060_354_M->V 0.000199681 340 chr6:111710311:T:G 9393_860_287_Q->P 0.000599042 340 chr6:111710402:C:T 9393_769_257_G->R 0.000199681 340 chr6:111714175:C:T 9393_566_189_S->N 0.000199681 340 chr6:111726735:T:C 9393_503_168_N->S 0.000199681 340 chr6:111737655:G:C 9393_160_54_L->V 0.000199681 340 chr6:111804022:G:C 9393_70_24_Q->E 0.000199681 340 na12878 Variants: 340 chr6:111695887:G:A 9393_3671_1224_T->I 340 snyder Variants: 340 chr6:111695887:G:A 9393_3671_1224_T->I 341 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000009413_ENST00000358835 gene_Name: DPOLZ_HUMAN 341 list of pdbs: 341 4GK5 pdb_description: 13-Mar-13 X-ray 3.210 Crystal structure of human rev3-rev7-rev1-polkappa complex 341 4GK0 pdb_description: 13-Mar-13 X-ray 2.700 Crystal structure of human rev3-rev7-rev1 complex 341 4EXT pdb_description: 08-May-13 X-ray 1.900 Structure of polymerase-interacting domain of human rev1 in with translesional synthesis polymerase zeta 341 3VU7 pdb_description: 08-Aug-12 X-ray 2.800 Crystal structure of rev1-rev7-rev3 ternary complex 341 3ABE pdb_description: 16-Feb-10 X-ray 2.600 Structure of human rev7 in complex with a human rev3 fragmen tetragonal crystal 341 3ABD pdb_description: 16-Feb-10 X-ray 1.900 Structure of human rev7 in complex with a human rev3 fragmen monoclinic crystal 341 Zimmer Variants: 341 chr6:111695887:G:A 9393_3671_1224_T->I 341 HGMD Variants: 341 chr6:111694124:C:G 9393_5434_1812_D->H 341 chr6:111696091:T:C 9393_3467_1156_Y->C 341 oneKG Variants: 341 chr6:111621295:A:G 9393_9317_3106_V->A 0.000199681 341 chr6:111621328:C:T 9393_9284_3095_R->Q 0.000199681 341 chr6:111628626:C:T 9393_9190_3064_V->I 0.057508 341 chr6:111628716:A:C 9393_9100_3034_S->A 0.000399361 341 chr6:111628730:C:T 9393_9086_3029_R->Q 0.00199681 341 chr6:111631189:A:G 9393_8909_2970_V->A 0.000199681 341 chr6:111631219:A:G 9393_8879_2960_V->A 0.000199681 341 chr6:111631282:C:T 9393_8816_2939_R->Q 0.000399361 341 chr6:111632402:A:G 9393_8665_2889_Y->H 0.000199681 341 chr6:111634568:G:A 9393_8591_2864_P->L 0.000199681 341 chr6:111643782:C:T 9393_8341_2781_D->N 0.000199681 341 chr6:111643838:C:T 9393_8285_2762_R->Q 0.00259585 341 chr6:111650832:C:T 9393_8144_2715_R->Q 0.000199681 341 chr6:111652898:T:C 9393_8015_2672_N->S 0.000199681 341 chr6:111652912:G:C 9393_8001_2667_I->M 0.000399361 341 chr6:111652949:A:G 9393_7964_2655_V->A 0.000199681 341 chr6:111654345:G:C 9393_7906_2636_H->D 0.000199681 341 chr6:111654440:C:A 9393_7811_2604_R->L 0.000199681 341 chr6:111654567:G:A 9393_7684_2562_R->C 0.000199681 341 chr6:111656778:C:T 9393_7574_2525_R->H 0.000199681 341 chr6:111665191:C:T 9393_7475_2492_R->H 0.000399361 341 chr6:111670468:T:C 9393_7372_2458_I->V 0.000199681 341 chr6:111672933:G:T 9393_7246_2416_Q->K 0.000199681 341 chr6:111685180:T:C 9393_6755_2252_N->S 0.000199681 341 chr6:111688511:G:T 9393_6480_2160_F->L 0.000199681 341 chr6:111688600:G:T 9393_6391_2131_P->T 0.000798722 341 chr6:111688647:A:C 9393_6344_2115_I->S 0.000599042 341 chr6:111688653:T:C 9393_6338_2113_Y->C 0.000798722 341 chr6:111688681:C:T 9393_6310_2104_E->K 0.000798722 341 chr6:111688746:G:A 9393_6245_2082_T->M 0.000199681 341 chr6:111688766:A:C 9393_6225_2075_I->M 0.000199681 341 chr6:111688938:C:T 9393_6053_2018_R->H 0.000798722 341 chr6:111688944:T:C 9393_6047_2016_Y->C 0.000199681 341 chr6:111688947:T:A 9393_6044_2015_E->V 0.000399361 341 chr6:111688969:C:T 9393_6022_2008_V->M 0.000199681 341 chr6:111689034:A:G 9393_5957_1986_M->T 0.000399361 341 chr6:111689050:T:G 9393_5941_1981_S->R 0.000199681 341 chr6:111689062:T:G 9393_5929_1977_N->H 0.000199681 341 chr6:111689082:C:T 9393_5909_1970_R->H 0.0267572 341 chr6:111689083:G:A 9393_5908_1970_R->C 0.000199681 341 chr6:111689089:G:A 9393_5902_1968_P->S 0.000199681 341 chr6:111689143:G:A 9393_5848_1950_R->C 0.000199681 341 chr6:111689196:C:T 9393_5795_1932_R->Q 0.000199681 341 chr6:111693952:C:A 9393_5606_1869_S->I 0.000599042 341 chr6:111694063:A:G 9393_5495_1832_V->A 0.000199681 341 chr6:111694097:T:C 9393_5461_1821_I->V 0.000199681 341 chr6:111694114:T:C 9393_5444_1815_N->S 0.000199681 341 chr6:111694124:C:G 9393_5434_1812_D->H 0.0091853 341 chr6:111694187:G:A 9393_5371_1791_P->S 0.0407348 341 chr6:111694221:C:A 9393_5337_1779_R->S 0.000199681 341 chr6:111694295:A:C 9393_5263_1755_S->A 0.000199681 341 chr6:111694340:G:A 9393_5218_1740_R->C 0.000199681 341 chr6:111694343:G:A 9393_5215_1739_R->C 0.000199681 341 chr6:111694363:G:C 9393_5195_1732_T->S 0.000399361 341 chr6:111694478:T:C 9393_5080_1694_N->D 0.000199681 341 chr6:111694693:A:G 9393_4865_1622_I->T 0.000199681 341 chr6:111694799:T:C 9393_4759_1587_R->G 0.000199681 341 chr6:111694841:G:A 9393_4717_1573_R->W 0.000199681 341 chr6:111694916:G:C 9393_4642_1548_Q->E 0.000199681 341 chr6:111695035:T:C 9393_4523_1508_Q->R 0.000199681 341 chr6:111695069:A:T 9393_4489_1497_S->T 0.000199681 341 chr6:111695110:A:T 9393_4448_1483_M->K 0.000199681 341 chr6:111695236:G:A 9393_4322_1441_T->I 0.000199681 341 chr6:111695270:C:T 9393_4288_1430_V->M 0.000798722 341 chr6:111695281:T:C 9393_4277_1426_Q->R 0.000599042 341 chr6:111695344:T:C 9393_4214_1405_N->S 0.000199681 341 chr6:111695444:T:C 9393_4114_1372_T->A 0.00119808 341 chr6:111695463:T:A 9393_4095_1365_L->F 0.000199681 341 chr6:111695479:T:G 9393_4079_1360_D->A 0.000199681 341 chr6:111695524:A:T 9393_4034_1345_M->K 0.000199681 341 chr6:111695525:T:C 9393_4033_1345_M->V 0.000998403 341 chr6:111695554:T:C 9393_4004_1335_N->S 0.000199681 341 chr6:111695579:T:C 9393_3979_1327_I->V 0.00299521 341 chr6:111695624:G:A 9393_3934_1312_P->S 0.000199681 341 chr6:111695631:C:A 9393_3927_1309_Q->H 0.0225639 341 chr6:111695653:C:G 9393_3905_1302_S->T 0.00199681 341 chr6:111695816:C:T 9393_3742_1248_V->M 0.000199681 341 chr6:111695863:T:A 9393_3695_1232_K->I 0.000798722 341 chr6:111695887:G:A 9393_3671_1224_T->I 0.413538 341 chr6:111695899:G:A 9393_3659_1220_S->L 0.0353435 341 chr6:111695954:C:T 9393_3604_1202_D->N 0.000399361 341 chr6:111695999:C:T 9393_3559_1187_V->I 0.000798722 341 chr6:111696070:C:T 9393_3488_1163_R->H 0.000599042 341 chr6:111696084:C:G 9393_3474_1158_K->N 0.000599042 341 chr6:111696091:T:C 9393_3467_1156_Y->C 0.0403355 341 chr6:111696095:C:T 9393_3463_1155_V->I 0.000199681 341 chr6:111696116:T:C 9393_3442_1148_M->V 0.000199681 341 chr6:111696118:G:C 9393_3440_1147_A->G 0.000199681 341 chr6:111696119:C:T 9393_3439_1147_A->T 0.000199681 341 chr6:111696131:C:T 9393_3427_1143_A->T 0.000199681 341 chr6:111696203:T:C 9393_3355_1119_S->G 0.000399361 341 chr6:111696224:A:G 9393_3334_1112_F->L 0.000399361 341 chr6:111696237:C:T 9393_3321_1107_M->I 0.000199681 341 chr6:111696280:T:C 9393_3278_1093_N->S 0.000199681 341 chr6:111696473:C:T 9393_3085_1029_D->N 0.000199681 341 chr6:111696550:T:C 9393_3008_1003_Q->R 0.000399361 341 chr6:111696640:G:A 9393_2918_973_P->L 0.000199681 341 chr6:111696913:C:T 9393_2645_882_R->H 0.000199681 341 chr6:111697072:C:T 9393_2486_829_R->Q 0.000199681 341 chr6:111697073:G:A 9393_2485_829_R->W 0.000199681 341 chr6:111697090:G:A 9393_2468_823_P->L 0.000798722 341 chr6:111697106:T:C 9393_2452_818_T->A 0.000798722 341 chr6:111697421:T:A 9393_2137_713_N->Y 0.000199681 341 chr6:111697471:T:A 9393_2087_696_H->L 0.00559105 341 chr6:111697474:C:T 9393_2084_695_R->H 0.000199681 341 chr6:111697480:A:G 9393_2078_693_M->T 0.000199681 341 chr6:111697525:T:C 9393_2033_678_Y->C 0.000199681 341 chr6:111697661:T:C 9393_1897_633_S->G 0.00758786 341 chr6:111697675:G:C 9393_1883_628_P->R 0.000199681 341 chr6:111697685:T:C 9393_1873_625_M->V 0.000199681 341 chr6:111697688:A:C 9393_1870_624_S->A 0.000998403 341 chr6:111697741:G:A 9393_1817_606_T->I 0.0 341 chr6:111698921:G:T 9393_1580_527_T->N 0.000199681 341 chr6:111699015:T:C 9393_1486_496_T->A 0.000599042 341 chr6:111701252:T:C 9393_1387_463_M->V 0.000199681 341 chr6:111701310:A:C 9393_1329_443_N->K 0.000199681 341 chr6:111701360:G:A 9393_1279_427_R->W 0.000199681 341 chr6:111702530:A:T 9393_1214_405_F->Y 0.000399361 341 chr6:111702533:A:C 9393_1211_404_V->G 0.000199681 341 chr6:111702543:C:T 9393_1201_401_E->K 0.000199681 341 chr6:111702554:T:G 9393_1190_397_Q->P 0.00199681 341 chr6:111709004:T:C 9393_1060_354_M->V 0.000199681 341 chr6:111710311:T:G 9393_860_287_Q->P 0.000599042 341 chr6:111710402:C:T 9393_769_257_G->R 0.000199681 341 chr6:111714175:C:T 9393_566_189_S->N 0.000199681 341 chr6:111726735:T:C 9393_503_168_N->S 0.000199681 341 chr6:111737655:G:C 9393_160_54_L->V 0.000199681 341 chr6:111804022:G:C 9393_70_24_Q->E 0.000199681 341 na12878 Variants: 341 chr6:111695887:G:A 9393_3671_1224_T->I 341 snyder Variants: 341 chr6:111695887:G:A 9393_3671_1224_T->I 342 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000009413_ENST00000435970 gene_Name: DPOLZ_HUMAN 342 list of pdbs: 342 4GK5 pdb_description: 13-Mar-13 X-ray 3.210 Crystal structure of human rev3-rev7-rev1-polkappa complex 342 4GK0 pdb_description: 13-Mar-13 X-ray 2.700 Crystal structure of human rev3-rev7-rev1 complex 342 4EXT pdb_description: 08-May-13 X-ray 1.900 Structure of polymerase-interacting domain of human rev1 in with translesional synthesis polymerase zeta 342 3VU7 pdb_description: 08-Aug-12 X-ray 2.800 Crystal structure of rev1-rev7-rev3 ternary complex 342 3ABE pdb_description: 16-Feb-10 X-ray 2.600 Structure of human rev7 in complex with a human rev3 fragmen tetragonal crystal 342 3ABD pdb_description: 16-Feb-10 X-ray 1.900 Structure of human rev7 in complex with a human rev3 fragmen monoclinic crystal 342 Zimmer Variants: 342 chr6:111695887:G:A 9159_3437_1146_T->I;HUB=PPI;GNEG=Yes;GENE=REV3L;CANG=[DNA_repair];CDSS=3;DBRECUR=REV3L 342 HGMD Variants: 342 chr6:111694124:C:G 9159_5200_1734_D->H 342 chr6:111696091:T:C 9159_3233_1078_Y->C 342 oneKG Variants: 342 chr6:111621295:A:G 9159_9083_3028_V->A 0.000199681 342 chr6:111621328:C:T 9159_9050_3017_R->Q 0.000199681 342 chr6:111628626:C:T 9159_8956_2986_V->I 0.057508 342 chr6:111628716:A:C 9159_8866_2956_S->A 0.000399361 342 chr6:111628730:C:T 9159_8852_2951_R->Q 0.00199681 342 chr6:111631189:A:G 9159_8675_2892_V->A 0.000199681 342 chr6:111631219:A:G 9159_8645_2882_V->A 0.000199681 342 chr6:111631282:C:T 9159_8582_2861_R->Q 0.000399361 342 chr6:111632402:A:G 9159_8431_2811_Y->H 0.000199681 342 chr6:111634568:G:A 9159_8357_2786_P->L 0.000199681 342 chr6:111643782:C:T 9159_8107_2703_D->N 0.000199681 342 chr6:111643838:C:T 9159_8051_2684_R->Q 0.00259585 342 chr6:111650832:C:T 9159_7910_2637_R->Q 0.000199681 342 chr6:111652898:T:C 9159_7781_2594_N->S 0.000199681 342 chr6:111652912:G:C 9159_7767_2589_I->M 0.000399361 342 chr6:111652949:A:G 9159_7730_2577_V->A 0.000199681 342 chr6:111654345:G:C 9159_7672_2558_H->D 0.000199681 342 chr6:111654440:C:A 9159_7577_2526_R->L 0.000199681 342 chr6:111654567:G:A 9159_7450_2484_R->C 0.000199681 342 chr6:111656778:C:T 9159_7340_2447_R->H 0.000199681 342 chr6:111665191:C:T 9159_7241_2414_R->H 0.000399361 342 chr6:111670468:T:C 9159_7138_2380_I->V 0.000199681 342 chr6:111672933:G:T 9159_7012_2338_Q->K 0.000199681 342 chr6:111685180:T:C 9159_6521_2174_N->S 0.000199681 342 chr6:111688511:G:T 9159_6246_2082_F->L 0.000199681 342 chr6:111688600:G:T 9159_6157_2053_P->T 0.000798722 342 chr6:111688647:A:C 9159_6110_2037_I->S 0.000599042 342 chr6:111688653:T:C 9159_6104_2035_Y->C 0.000798722 342 chr6:111688681:C:T 9159_6076_2026_E->K 0.000798722 342 chr6:111688746:G:A 9159_6011_2004_T->M 0.000199681 342 chr6:111688766:A:C 9159_5991_1997_I->M 0.000199681 342 chr6:111688938:C:T 9159_5819_1940_R->H 0.000798722 342 chr6:111688944:T:C 9159_5813_1938_Y->C 0.000199681 342 chr6:111688947:T:A 9159_5810_1937_E->V 0.000399361 342 chr6:111688969:C:T 9159_5788_1930_V->M 0.000199681 342 chr6:111689034:A:G 9159_5723_1908_M->T 0.000399361 342 chr6:111689050:T:G 9159_5707_1903_S->R 0.000199681 342 chr6:111689062:T:G 9159_5695_1899_N->H 0.000199681 342 chr6:111689082:C:T 9159_5675_1892_R->H 0.0267572 342 chr6:111689083:G:A 9159_5674_1892_R->C 0.000199681 342 chr6:111689089:G:A 9159_5668_1890_P->S 0.000199681 342 chr6:111689143:G:A 9159_5614_1872_R->C 0.000199681 342 chr6:111689196:C:T 9159_5561_1854_R->Q 0.000199681 342 chr6:111693952:C:A 9159_5372_1791_S->I 0.000599042 342 chr6:111694063:A:G 9159_5261_1754_V->A 0.000199681 342 chr6:111694097:T:C 9159_5227_1743_I->V 0.000199681 342 chr6:111694114:T:C 9159_5210_1737_N->S 0.000199681 342 chr6:111694124:C:G 9159_5200_1734_D->H 0.0091853 342 chr6:111694187:G:A 9159_5137_1713_P->S 0.0407348 342 chr6:111694221:C:A 9159_5103_1701_R->S 0.000199681 342 chr6:111694295:A:C 9159_5029_1677_S->A 0.000199681 342 chr6:111694340:G:A 9159_4984_1662_R->C 0.000199681 342 chr6:111694343:G:A 9159_4981_1661_R->C 0.000199681 342 chr6:111694363:G:C 9159_4961_1654_T->S 0.000399361 342 chr6:111694478:T:C 9159_4846_1616_N->D 0.000199681 342 chr6:111694693:A:G 9159_4631_1544_I->T 0.000199681 342 chr6:111694799:T:C 9159_4525_1509_R->G 0.000199681 342 chr6:111694841:G:A 9159_4483_1495_R->W 0.000199681 342 chr6:111694916:G:C 9159_4408_1470_Q->E 0.000199681 342 chr6:111695035:T:C 9159_4289_1430_Q->R 0.000199681 342 chr6:111695069:A:T 9159_4255_1419_S->T 0.000199681 342 chr6:111695110:A:T 9159_4214_1405_M->K 0.000199681 342 chr6:111695236:G:A 9159_4088_1363_T->I 0.000199681 342 chr6:111695270:C:T 9159_4054_1352_V->M 0.000798722 342 chr6:111695281:T:C 9159_4043_1348_Q->R 0.000599042 342 chr6:111695344:T:C 9159_3980_1327_N->S 0.000199681 342 chr6:111695444:T:C 9159_3880_1294_T->A 0.00119808 342 chr6:111695463:T:A 9159_3861_1287_L->F 0.000199681 342 chr6:111695479:T:G 9159_3845_1282_D->A 0.000199681 342 chr6:111695524:A:T 9159_3800_1267_M->K 0.000199681 342 chr6:111695525:T:C 9159_3799_1267_M->V 0.000998403 342 chr6:111695554:T:C 9159_3770_1257_N->S 0.000199681 342 chr6:111695579:T:C 9159_3745_1249_I->V 0.00299521 342 chr6:111695624:G:A 9159_3700_1234_P->S 0.000199681 342 chr6:111695631:C:A 9159_3693_1231_Q->H 0.0225639 342 chr6:111695653:C:G 9159_3671_1224_S->T 0.00199681 342 chr6:111695816:C:T 9159_3508_1170_V->M 0.000199681 342 chr6:111695863:T:A 9159_3461_1154_K->I 0.000798722 342 chr6:111695887:G:A 9159_3437_1146_T->I 0.413538 342 chr6:111695899:G:A 9159_3425_1142_S->L 0.0353435 342 chr6:111695954:C:T 9159_3370_1124_D->N 0.000399361 342 chr6:111695999:C:T 9159_3325_1109_V->I 0.000798722 342 chr6:111696070:C:T 9159_3254_1085_R->H 0.000599042 342 chr6:111696084:C:G 9159_3240_1080_K->N 0.000599042 342 chr6:111696091:T:C 9159_3233_1078_Y->C 0.0403355 342 chr6:111696095:C:T 9159_3229_1077_V->I 0.000199681 342 chr6:111696116:T:C 9159_3208_1070_M->V 0.000199681 342 chr6:111696118:G:C 9159_3206_1069_A->G 0.000199681 342 chr6:111696119:C:T 9159_3205_1069_A->T 0.000199681 342 chr6:111696131:C:T 9159_3193_1065_A->T 0.000199681 342 chr6:111696203:T:C 9159_3121_1041_S->G 0.000399361 342 chr6:111696224:A:G 9159_3100_1034_F->L 0.000399361 342 chr6:111696237:C:T 9159_3087_1029_M->I 0.000199681 342 chr6:111696280:T:C 9159_3044_1015_N->S 0.000199681 342 chr6:111696473:C:T 9159_2851_951_D->N 0.000199681 342 chr6:111696550:T:C 9159_2774_925_Q->R 0.000399361 342 chr6:111696640:G:A 9159_2684_895_P->L 0.000199681 342 chr6:111696913:C:T 9159_2411_804_R->H 0.000199681 342 chr6:111697072:C:T 9159_2252_751_R->Q 0.000199681 342 chr6:111697073:G:A 9159_2251_751_R->W 0.000199681 342 chr6:111697090:G:A 9159_2234_745_P->L 0.000798722 342 chr6:111697106:T:C 9159_2218_740_T->A 0.000798722 342 chr6:111697421:T:A 9159_1903_635_N->Y 0.000199681 342 chr6:111697471:T:A 9159_1853_618_H->L 0.00559105 342 chr6:111697474:C:T 9159_1850_617_R->H 0.000199681 342 chr6:111697480:A:G 9159_1844_615_M->T 0.000199681 342 chr6:111697525:T:C 9159_1799_600_Y->C 0.000199681 342 chr6:111697661:T:C 9159_1663_555_S->G 0.00758786 342 chr6:111697675:G:C 9159_1649_550_P->R 0.000199681 342 chr6:111697685:T:C 9159_1639_547_M->V 0.000199681 342 chr6:111697688:A:C 9159_1636_546_S->A 0.000998403 342 chr6:111697741:G:A 9159_1583_528_T->I 0.0 342 chr6:111698921:G:T 9159_1346_449_T->N 0.000199681 342 chr6:111699015:T:C 9159_1252_418_T->A 0.000599042 342 chr6:111701252:T:C 9159_1153_385_M->V 0.000199681 342 chr6:111701310:A:C 9159_1095_365_N->K 0.000199681 342 chr6:111701360:G:A 9159_1045_349_R->W 0.000199681 342 chr6:111702530:A:T 9159_980_327_F->Y 0.000399361 342 chr6:111702533:A:C 9159_977_326_V->G 0.000199681 342 chr6:111702543:C:T 9159_967_323_E->K 0.000199681 342 chr6:111702554:T:G 9159_956_319_Q->P 0.00199681 342 chr6:111709004:T:C 9159_826_276_M->V 0.000199681 342 chr6:111710311:T:G 9159_626_209_Q->P 0.000599042 342 chr6:111710402:C:T 9159_535_179_G->R 0.000199681 342 chr6:111714175:C:T 9159_332_111_S->N 0.000199681 342 chr6:111726735:T:C 9159_269_90_N->S 0.000199681 342 na12878 Variants: 342 chr6:111695887:G:A 9159_3437_1146_T->I 342 snyder Variants: 342 chr6:111695887:G:A 9159_3437_1146_T->I 343 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112041_ENST00000322263 gene_Name: TULP1_HUMAN 343 list of pdbs: 343 3C5N pdb_description: 01-Apr-08 X-ray 1.800 Structure of human tulp1 in complex with ip3 343 2FIM pdb_description: 07-Feb-06 X-ray 1.900 Structure of thE C-terminal domain of human tubby-like prote 343 Zimmer Variants: 343 chr6:35477025:C:G 1470_624_208_K->N;GNEG=Yes;GENE=TULP1;CDSS=3 343 chr6:35477032:A:G 1470_617_206_I->T;GNEG=Yes;GENE=TULP1;CDSS=3 343 HGMD Variants: 343 chr6:35467904:C:T 1470_1190_397_W->* 343 chr6:35471534:C:A 1470_1045_349_E->* 343 chr6:35473549:G:A 1470_922_308_R->* 343 chr6:35473878:G:A 1470_742_248_Q->* 343 chr6:35477500:G:C 1470_470_157_S->* 343 chr6:35466129:A:G 1470_1445_482_F->S 343 chr6:35466215:G:T 1470_1359_453_F->L 343 chr6:35467767:C:T 1470_1327_443_A->T 343 chr6:35467782:A:G 1470_1312_438_F->L 343 chr6:35467787:T:C 1470_1307_436_K->R 343 chr6:35467808:C:T 1470_1286_429_R->Q 343 chr6:35467809:G:A 1470_1285_429_R->W 343 chr6:35467872:G:C 1470_1222_408_L->V 343 chr6:35467877:A:G 1470_1217_406_I->T 343 chr6:35467877:A:T 1470_1217_406_I->K 343 chr6:35471382:G:A 1470_1118_373_P->L 343 chr6:35471400:C:G 1470_1100_367_R->P 343 chr6:35471401:G:T 1470_1099_367_R->S 343 chr6:35471404:G:A 1470_1096_366_R->W 343 chr6:35471413:G:A 1470_1087_363_R->C 343 chr6:35471539:C:T 1470_1040_347_R->Q 343 chr6:35471540:G:A 1470_1039_347_R->W 343 chr6:35471593:A:G 1470_986_329_F->S 343 chr6:35471600:T:C 1470_979_327_T->A 343 chr6:35473528:C:A 1470_943_315_G->W 343 chr6:35473566:T:A 1470_905_302_D->V 343 chr6:35473583:A:C 1470_888_296_N->K 343 chr6:35473605:C:T 1470_866_289_R->Q 343 chr6:35473818:A:C 1470_802_268_Y->D 343 chr6:35473847:C:T 1470_773_258_R->Q 343 chr6:35477666:C:T 1470_380_127_R->H 343 chr6:35480633:C:T 1470_3_1_M->I 343 oneKG Variants: 343 chr6:35466208:C:G 1470_1366_456_V->L 0.000199681 343 chr6:35467758:G:A 1470_1336_446_P->S 0.000199681 343 chr6:35467767:C:T 1470_1327_443_A->T 0.00139776 343 chr6:35467808:C:T 1470_1286_429_R->Q 0.000199681 343 chr6:35467877:A:G 1470_1217_406_I->T 0.00219649 343 chr6:35467892:G:A 1470_1202_401_T->M 0.000399361 343 chr6:35467895:T:C 1470_1199_400_K->R 0.000199681 343 chr6:35467920:C:T 1470_1174_392_G->S 0.000199681 343 chr6:35467923:C:T 1470_1171_391_D->N 0.000199681 343 chr6:35471362:C:T 1470_1138_380_E->K 0.000798722 343 chr6:35471413:G:A 1470_1087_363_R->C 0.000199681 343 chr6:35471572:T:C 1470_1007_336_Q->R 0.000199681 343 chr6:35473794:C:T 1470_826_276_D->N 0.000199681 343 chr6:35473806:A:G 1470_814_272_F->L 0.000199681 343 chr6:35473841:T:C 1470_779_260_K->R 0.000199681 343 chr6:35473856:C:T 1470_764_255_R->Q 0.000199681 343 chr6:35473878:G:C 1470_742_248_Q->E 0.000199681 343 chr6:35473904:C:T 1470_716_239_R->Q 0.000199681 343 chr6:35473923:C:T 1470_697_233_V->M 0.000599042 343 chr6:35477011:C:A 1470_638_213_G->V 0.000199681 343 chr6:35477025:C:G 1470_624_208_K->N 0.161542 343 chr6:35477032:A:G 1470_617_206_I->T 0.39397 343 chr6:35477033:T:G 1470_616_206_I->L 0.000199681 343 chr6:35477056:T:A 1470_593_198_E->V 0.000199681 343 chr6:35477415:C:G 1470_555_185_K->N 0.000798722 343 chr6:35477630:G:A 1470_416_139_T->I 0.000199681 343 chr6:35477664:C:G 1470_382_128_V->L 0.000399361 343 chr6:35477666:C:T 1470_380_127_R->H 0.000199681 343 chr6:35478680:C:T 1470_298_100_A->T 0.000199681 343 chr6:35478710:G:C 1470_268_90_P->A 0.000599042 343 chr6:35478740:C:G 1470_238_80_E->Q 0.000199681 343 chr6:35478742:G:T 1470_236_79_A->E 0.000199681 343 chr6:35478764:C:G 1470_214_72_E->Q 0.000199681 343 chr6:35478765:G:T 1470_213_71_D->E 0.00139776 343 chr6:35478766:T:G 1470_212_71_D->A 0.00219649 343 chr6:35478767:C:T 1470_211_71_D->N 0.000199681 343 chr6:35478771:C:A 1470_207_69_E->D 0.000599042 343 chr6:35479992:G:A 1470_155_52_P->L 0.000199681 343 chr6:35480417:T:A 1470_98_33_Q->L 0.000199681 343 chr6:35480598:G:T 1470_38_13_A->D 0.000199681 343 na12878 Variants: 343 chr6:35477025:C:G 1470_624_208_K->N 343 snyder Variants: 343 chr6:35477025:C:G 1470_624_208_K->N 343 chr6:35477032:A:G 1470_617_206_I->T 344 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112041_ENST00000229771 gene_Name: TULP1_HUMAN 344 list of pdbs: 344 3C5N pdb_description: 01-Apr-08 X-ray 1.800 Structure of human tulp1 in complex with ip3 344 2FIM pdb_description: 07-Feb-06 X-ray 1.900 Structure of thE C-terminal domain of human tubby-like prote 344 Zimmer Variants: 344 chr6:35477025:C:G 1629_783_261_K->N 344 chr6:35477032:A:G 1629_776_259_I->T 344 HGMD Variants: 344 chr6:35467904:C:T 1629_1349_450_W->* 344 chr6:35471534:C:A 1629_1204_402_E->* 344 chr6:35473549:G:A 1629_1081_361_R->* 344 chr6:35473878:G:A 1629_901_301_Q->* 344 chr6:35477500:G:C 1629_629_210_S->* 344 chr6:35466129:A:G 1629_1604_535_F->S 344 chr6:35466215:G:T 1629_1518_506_F->L 344 chr6:35467767:C:T 1629_1486_496_A->T 344 chr6:35467782:A:G 1629_1471_491_F->L 344 chr6:35467787:T:C 1629_1466_489_K->R 344 chr6:35467808:C:T 1629_1445_482_R->Q 344 chr6:35467809:G:A 1629_1444_482_R->W 344 chr6:35467872:G:C 1629_1381_461_L->V 344 chr6:35467877:A:G 1629_1376_459_I->T 344 chr6:35467877:A:T 1629_1376_459_I->K 344 chr6:35471382:G:A 1629_1277_426_P->L 344 chr6:35471400:C:G 1629_1259_420_R->P 344 chr6:35471401:G:T 1629_1258_420_R->S 344 chr6:35471404:G:A 1629_1255_419_R->W 344 chr6:35471413:G:A 1629_1246_416_R->C 344 chr6:35471539:C:T 1629_1199_400_R->Q 344 chr6:35471540:G:A 1629_1198_400_R->W 344 chr6:35471593:A:G 1629_1145_382_F->S 344 chr6:35471600:T:C 1629_1138_380_T->A 344 chr6:35473528:C:A 1629_1102_368_G->W 344 chr6:35473566:T:A 1629_1064_355_D->V 344 chr6:35473583:A:C 1629_1047_349_N->K 344 chr6:35473605:C:T 1629_1025_342_R->Q 344 chr6:35473818:A:C 1629_961_321_Y->D 344 chr6:35473847:C:T 1629_932_311_R->Q 344 chr6:35477666:C:T 1629_539_180_R->H 344 chr6:35479494:C:A 1629_280_94_D->Y 344 chr6:35480633:C:T 1629_3_1_M->I 344 oneKG Variants: 344 chr6:35466208:C:G 1629_1525_509_V->L 0.000199681 344 chr6:35467758:G:A 1629_1495_499_P->S 0.000199681 344 chr6:35467767:C:T 1629_1486_496_A->T 0.00139776 344 chr6:35467808:C:T 1629_1445_482_R->Q 0.000199681 344 chr6:35467877:A:G 1629_1376_459_I->T 0.00219649 344 chr6:35467892:G:A 1629_1361_454_T->M 0.000399361 344 chr6:35467895:T:C 1629_1358_453_K->R 0.000199681 344 chr6:35467920:C:T 1629_1333_445_G->S 0.000199681 344 chr6:35467923:C:T 1629_1330_444_D->N 0.000199681 344 chr6:35471362:C:T 1629_1297_433_E->K 0.000798722 344 chr6:35471413:G:A 1629_1246_416_R->C 0.000199681 344 chr6:35471572:T:C 1629_1166_389_Q->R 0.000199681 344 chr6:35473794:C:T 1629_985_329_D->N 0.000199681 344 chr6:35473806:A:G 1629_973_325_F->L 0.000199681 344 chr6:35473841:T:C 1629_938_313_K->R 0.000199681 344 chr6:35473856:C:T 1629_923_308_R->Q 0.000199681 344 chr6:35473878:G:C 1629_901_301_Q->E 0.000199681 344 chr6:35473904:C:T 1629_875_292_R->Q 0.000199681 344 chr6:35473923:C:T 1629_856_286_V->M 0.000599042 344 chr6:35477011:C:A 1629_797_266_G->V 0.000199681 344 chr6:35477025:C:G 1629_783_261_K->N 0.161542 344 chr6:35477032:A:G 1629_776_259_I->T 0.39397 344 chr6:35477033:T:G 1629_775_259_I->L 0.000199681 344 chr6:35477056:T:A 1629_752_251_E->V 0.000199681 344 chr6:35477415:C:G 1629_714_238_K->N 0.000798722 344 chr6:35477630:G:A 1629_575_192_T->I 0.000199681 344 chr6:35477664:C:G 1629_541_181_V->L 0.000399361 344 chr6:35477666:C:T 1629_539_180_R->H 0.000199681 344 chr6:35478680:C:T 1629_457_153_A->T 0.000199681 344 chr6:35478710:G:C 1629_427_143_P->A 0.000599042 344 chr6:35478740:C:G 1629_397_133_E->Q 0.000199681 344 chr6:35478742:G:T 1629_395_132_A->E 0.000199681 344 chr6:35478764:C:G 1629_373_125_E->Q 0.000199681 344 chr6:35478765:G:T 1629_372_124_D->E 0.00139776 344 chr6:35478766:T:G 1629_371_124_D->A 0.00219649 344 chr6:35478767:C:T 1629_370_124_D->N 0.000199681 344 chr6:35478771:C:A 1629_366_122_E->D 0.000599042 344 chr6:35479443:C:T 1629_331_111_A->T 0.000199681 344 chr6:35479554:G:C 1629_220_74_P->A 0.000199681 344 chr6:35479574:G:C 1629_200_67_T->R 0.125599 344 chr6:35479992:G:A 1629_155_52_P->L 0.000199681 344 chr6:35480417:T:A 1629_98_33_Q->L 0.000199681 344 chr6:35480598:G:T 1629_38_13_A->D 0.000199681 344 na12878 Variants: 344 chr6:35477025:C:G 1629_783_261_K->N 344 snyder Variants: 344 chr6:35477025:C:G 1629_783_261_K->N 344 chr6:35477032:A:G 1629_776_259_I->T 345 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112280_ENST00000357250 gene_Name: CO9A1_HUMAN 345 list of pdbs: 345 2UUR pdb_description: 05-Jun-07 X-ray 1.800 N-terminal nc4 domain of collagen ix 345 Zimmer Variants: 345 chr6:70961833:T:C 2766_1862_621_Q->R 345 chr6:70984436:A:G 2766_1015_339_S->P 345 HGMD Variants: 345 chr6:70965078:G:A 2766_1519_507_R->* 345 chr6:70990736:G:A 2766_883_295_R->* 345 chr6:70942394:C:G 2766_2395_799_G->R 345 oneKG Variants: 345 chr6:70926748:C:T 2766_2618_873_R->Q 0.000199681 345 chr6:70926781:T:G 2766_2585_862_D->A 0.000199681 345 chr6:70935679:G:C 2766_2537_846_P->R 0.000199681 345 chr6:70942294:C:T 2766_2495_832_G->E 0.000199681 345 chr6:70942319:G:T 2766_2470_824_P->T 0.0169728 345 chr6:70942333:G:A 2766_2456_819_P->L 0.000199681 345 chr6:70942353:C:A 2766_2436_812_Q->H 0.000199681 345 chr6:70942391:G:A 2766_2398_800_P->S 0.000199681 345 chr6:70944257:T:C 2766_2299_767_M->V 0.0734824 345 chr6:70944516:G:C 2766_2240_747_P->R 0.000599042 345 chr6:70944529:C:T 2766_2227_743_A->T 0.000199681 345 chr6:70944553:G:A 2766_2203_735_R->W 0.000199681 345 chr6:70944597:C:T 2766_2159_720_R->Q 0.000399361 345 chr6:70951719:C:G 2766_1946_649_G->A 0.000199681 345 chr6:70951726:T:G 2766_1939_647_S->R 0.000199681 345 chr6:70961833:T:C 2766_1862_621_Q->R 0.326677 345 chr6:70961966:G:A 2766_1817_606_P->L 0.000199681 345 chr6:70961979:T:G 2766_1804_602_N->H 0.000199681 345 chr6:70963120:T:A 2766_1732_578_I->F 0.000199681 345 chr6:70963125:G:A 2766_1727_576_P->L 0.000199681 345 chr6:70964697:C:T 2766_1634_545_R->H 0.000798722 345 chr6:70964861:C:T 2766_1603_535_G->R 0.000199681 345 chr6:70965063:C:T 2766_1534_512_E->K 0.000199681 345 chr6:70965092:C:T 2766_1505_502_G->D 0.000199681 345 chr6:70966509:C:G 2766_1465_489_D->H 0.000998403 345 chr6:70970383:T:C 2766_1426_476_I->V 0.000399361 345 chr6:70970386:C:T 2766_1423_475_G->S 0.000399361 345 chr6:70972993:T:C 2766_1349_450_E->G 0.00239617 345 chr6:70976457:T:C 2766_1304_435_K->R 0.000199681 345 chr6:70980022:G:C 2766_1192_398_P->A 0.000399361 345 chr6:70981371:C:T 2766_1130_377_R->H 0.000399361 345 chr6:70981405:G:C 2766_1096_366_P->A 0.000199681 345 chr6:70981787:C:T 2766_1070_357_R->H 0.000199681 345 chr6:70984436:A:G 2766_1015_339_S->P 0.482428 345 chr6:70990531:C:T 2766_959_320_G->D 0.000399361 345 chr6:70990715:C:T 2766_904_302_G->S 0.00159744 345 chr6:70990717:G:A 2766_902_301_P->L 0.000599042 345 chr6:70991142:G:A 2766_827_276_P->L 0.000199681 345 chr6:71003892:T:A 2766_674_225_D->V 0.000399361 345 chr6:71003925:A:G 2766_641_214_I->T 0.000199681 345 chr6:71003940:C:T 2766_626_209_R->K 0.000199681 345 chr6:71003965:T:A 2766_601_201_I->F 0.000199681 345 chr6:71004087:A:T 2766_479_160_L->Q 0.000199681 345 chr6:71004195:A:G 2766_371_124_L->P 0.000199681 345 chr6:71004213:C:T 2766_353_118_R->Q 0.000599042 345 chr6:71004222:G:A 2766_344_115_T->M 0.000399361 345 chr6:71009773:T:C 2766_272_91_N->S 0.000199681 345 chr6:71009809:C:T 2766_236_79_G->E 0.000599042 345 chr6:71010020:T:C 2766_158_53_D->G 0.000399361 345 chr6:71011704:T:C 2766_88_30_R->G 0.000399361 345 chr6:71011712:C:T 2766_80_27_R->H 0.000199681 345 chr6:71011736:G:A 2766_56_19_P->L 0.000998403 345 chr6:71011754:A:G 2766_38_13_V->A 0.000399361 345 na12878 Variants: 345 chr6:70944257:T:C 2766_2299_767_M->V 345 chr6:70961833:T:C 2766_1862_621_Q->R 345 chr6:70984436:A:G 2766_1015_339_S->P 345 snyder Variants: 345 chr6:70984436:A:G 2766_1015_339_S->P 346 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112280_ENST00000320755 gene_Name: CO9A1_HUMAN 346 list of pdbs: 346 2UUR pdb_description: 05-Jun-07 X-ray 1.800 N-terminal nc4 domain of collagen ix 346 Zimmer Variants: 346 chr6:70961833:T:C 2037_1133_378_Q->R 346 chr6:70984436:A:G 2037_286_96_S->P 346 HGMD Variants: 346 chr6:70965078:G:A 2037_790_264_R->* 346 chr6:70990736:G:A 2037_154_52_R->* 346 chr6:70942394:C:G 2037_1666_556_G->R 346 oneKG Variants: 346 chr6:70926748:C:T 2037_1889_630_R->Q 0.000199681 346 chr6:70926781:T:G 2037_1856_619_D->A 0.000199681 346 chr6:70935679:G:C 2037_1808_603_P->R 0.000199681 346 chr6:70942294:C:T 2037_1766_589_G->E 0.000199681 346 chr6:70942319:G:T 2037_1741_581_P->T 0.0169728 346 chr6:70942333:G:A 2037_1727_576_P->L 0.000199681 346 chr6:70942353:C:A 2037_1707_569_Q->H 0.000199681 346 chr6:70942391:G:A 2037_1669_557_P->S 0.000199681 346 chr6:70944257:T:C 2037_1570_524_M->V 0.0734824 346 chr6:70944516:G:C 2037_1511_504_P->R 0.000599042 346 chr6:70944529:C:T 2037_1498_500_A->T 0.000199681 346 chr6:70944553:G:A 2037_1474_492_R->W 0.000199681 346 chr6:70944597:C:T 2037_1430_477_R->Q 0.000399361 346 chr6:70951719:C:G 2037_1217_406_G->A 0.000199681 346 chr6:70951726:T:G 2037_1210_404_S->R 0.000199681 346 chr6:70961833:T:C 2037_1133_378_Q->R 0.326677 346 chr6:70961966:G:A 2037_1088_363_P->L 0.000199681 346 chr6:70961979:T:G 2037_1075_359_N->H 0.000199681 346 chr6:70963120:T:A 2037_1003_335_I->F 0.000199681 346 chr6:70963125:G:A 2037_998_333_P->L 0.000199681 346 chr6:70964697:C:T 2037_905_302_R->H 0.000798722 346 chr6:70964861:C:T 2037_874_292_G->R 0.000199681 346 chr6:70965063:C:T 2037_805_269_E->K 0.000199681 346 chr6:70965092:C:T 2037_776_259_G->D 0.000199681 346 chr6:70966509:C:G 2037_736_246_D->H 0.000998403 346 chr6:70970383:T:C 2037_697_233_I->V 0.000399361 346 chr6:70970386:C:T 2037_694_232_G->S 0.000399361 346 chr6:70972993:T:C 2037_620_207_E->G 0.00239617 346 chr6:70976457:T:C 2037_575_192_K->R 0.000199681 346 chr6:70980022:G:C 2037_463_155_P->A 0.000399361 346 chr6:70981371:C:T 2037_401_134_R->H 0.000399361 346 chr6:70981405:G:C 2037_367_123_P->A 0.000199681 346 chr6:70981787:C:T 2037_341_114_R->H 0.000199681 346 chr6:70984436:A:G 2037_286_96_S->P 0.482428 346 chr6:70990531:C:T 2037_230_77_G->D 0.000399361 346 chr6:70990715:C:T 2037_175_59_G->S 0.00159744 346 chr6:70990717:G:A 2037_173_58_P->L 0.000599042 346 chr6:70991142:G:A 2037_98_33_P->L 0.000199681 346 chr6:70992736:T:C 2037_20_7_D->G 0.00219649 346 na12878 Variants: 346 chr6:70944257:T:C 2037_1570_524_M->V 346 chr6:70961833:T:C 2037_1133_378_Q->R 346 chr6:70984436:A:G 2037_286_96_S->P 346 snyder Variants: 346 chr6:70984436:A:G 2037_286_96_S->P 347 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000105939_ENST00000242351 gene_Name: ZCCHV_HUMAN 347 list of pdbs: 347 2X5Y pdb_description: 02-Mar-10 X-ray 1.050 Human zc3hav1 (artd13), c-terminal domain 347 Zimmer Variants: 347 chr7:138732497:G:A 2709_2552_851_T->I 347 chr7:138740037:G:C 2709_2101_701_Q->E 347 chr7:138761034:G:C 2709_1695_565_H->Q 347 chr7:138764233:C:T 2709_1454_485_R->K 347 HGMD Variants: 347 chr7:138732497:G:A 2709_2552_851_T->I 347 oneKG Variants: 347 chr7:138732396:C:A 2709_2653_885_V->F 0.000199681 347 chr7:138732441:T:C 2709_2608_870_T->A 0.000199681 347 chr7:138732497:G:A 2709_2552_851_T->I 0.46865 347 chr7:138732518:T:A 2709_2531_844_Q->L 0.000199681 347 chr7:138738274:C:T 2709_2372_791_R->H 0.000199681 347 chr7:138738287:A:G 2709_2359_787_Y->H 0.000199681 347 chr7:138738761:A:C 2709_2268_756_I->M 0.000199681 347 chr7:138739995:G:A 2709_2143_715_R->C 0.000199681 347 chr7:138740004:C:A 2709_2134_712_A->S 0.000798722 347 chr7:138740026:C:G 2709_2112_704_K->N 0.000998403 347 chr7:138740037:G:C 2709_2101_701_Q->E 0.434904 347 chr7:138745801:G:C 2709_2077_693_Q->E 0.000199681 347 chr7:138749736:G:A 2709_1882_628_R->W 0.000199681 347 chr7:138749745:T:C 2709_1873_625_K->E 0.000199681 347 chr7:138758679:C:T 2709_1795_599_A->T 0.000998403 347 chr7:138758705:G:C 2709_1769_590_S->C 0.000199681 347 chr7:138758724:A:G 2709_1750_584_F->L 0.000199681 347 chr7:138758744:C:T 2709_1730_577_R->Q 0.000199681 347 chr7:138758745:G:A 2709_1729_577_R->W 0.00139776 347 chr7:138758754:T:C 2709_1720_574_I->V 0.00199681 347 chr7:138761034:G:C 2709_1695_565_H->Q 0.241014 347 chr7:138761035:T:C 2709_1694_565_H->R 0.000199681 347 chr7:138761107:A:T 2709_1622_541_L->H 0.000199681 347 chr7:138761110:A:G 2709_1619_540_M->T 0.000399361 347 chr7:138763306:G:A 2709_1565_522_P->L 0.000199681 347 chr7:138763313:C:T 2709_1558_520_G->S 0.000199681 347 chr7:138763358:C:T 2709_1513_505_D->N 0.000599042 347 chr7:138764233:C:T 2709_1454_485_R->K 0.232228 347 chr7:138764245:T:G 2709_1442_481_D->A 0.0121805 347 chr7:138764267:C:T 2709_1420_474_A->T 0.000199681 347 chr7:138764274:A:C 2709_1413_471_D->E 0.000199681 347 chr7:138764275:T:C 2709_1412_471_D->G 0.000199681 347 chr7:138764533:C:T 2709_1154_385_R->H 0.000399361 347 chr7:138764534:G:A 2709_1153_385_R->C 0.00559105 347 chr7:138764576:C:T 2709_1111_371_A->T 0.000199681 347 chr7:138764659:T:A 2709_1028_343_N->I 0.0 347 chr7:138764741:T:G 2709_946_316_T->P 0.000399361 347 chr7:138764803:C:T 2709_884_295_R->H 0.00179712 347 chr7:138764804:G:A 2709_883_295_R->C 0.000798722 347 chr7:138764824:G:A 2709_863_288_A->V 0.00399361 347 chr7:138764825:C:T 2709_862_288_A->T 0.00139776 347 chr7:138764860:G:C 2709_827_276_P->R 0.000199681 347 chr7:138764878:C:G 2709_809_270_R->T 0.00119808 347 chr7:138764957:T:C 2709_730_244_R->G 0.000199681 347 chr7:138768592:C:T 2709_631_211_V->M 0.000199681 347 chr7:138768636:C:T 2709_587_196_R->K 0.000199681 347 chr7:138768676:G:A 2709_547_183_R->C 0.000199681 347 chr7:138768744:T:C 2709_479_160_Q->R 0.000199681 347 chr7:138774480:C:A 2709_334_112_V->F 0.000199681 347 chr7:138793969:G:T 2709_109_37_L->I 0.000199681 347 na12878 Variants: 347 chr7:138732497:G:A 2709_2552_851_T->I 347 chr7:138740037:G:C 2709_2101_701_Q->E 347 snyder Variants: 347 chr7:138732497:G:A 2709_2552_851_T->I 347 chr7:138740037:G:C 2709_2101_701_Q->E 348 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164761_ENST00000297350 gene_Name: TR11B_HUMAN 348 list of pdbs: 348 3URF pdb_description: 11-Jul-12 X-ray 2.700 Human rankl/opg complex 348 Zimmer Variants: 348 chr8:119964052:G:C 1206_9_3_N->K 348 HGMD Variants: 348 chr8:119941108:G:A 1206_461_154_T->M 348 chr8:119945221:A:G 1206_349_117_F->L 348 chr8:119945310:C:T 1206_260_87_C->Y 348 chr8:119945344:T:G 1206_226_76_T->P 348 chr8:119945377:A:G 1206_193_65_C->R 348 chr8:119945440:A:G 1206_130_44_C->R 348 chr8:119964052:G:C 1206_9_3_N->K 348 chr8:119964059:A:C 1206_2_1_M->R 348 oneKG Variants: 348 chr8:119936671:T:G 1206_1148_383_K->T 0.000199681 348 chr8:119936714:T:G 1206_1105_369_I->L 0.000199681 348 chr8:119936717:T:A 1206_1102_368_T->S 0.000199681 348 chr8:119936807:C:T 1206_1012_338_D->N 0.000199681 348 chr8:119936819:T:C 1206_1000_334_I->V 0.000199681 348 chr8:119936978:C:T 1206_841_281_V->M 0.00559105 348 chr8:119936980:C:T 1206_839_280_S->N 0.000199681 348 chr8:119938738:A:G 1206_812_271_I->T 0.000199681 348 chr8:119938767:G:C 1206_783_261_N->K 0.000199681 348 chr8:119938801:G:A 1206_749_250_T->I 0.000199681 348 chr8:119938850:C:T 1206_700_234_A->T 0.000199681 348 chr8:119938888:C:G 1206_662_221_S->T 0.000199681 348 chr8:119938952:T:C 1206_598_200_T->A 0.000199681 348 chr8:119941027:T:A 1206_542_181_H->L 0.000199681 348 chr8:119941108:G:A 1206_461_154_T->M 0.000798722 348 chr8:119945239:G:T 1206_331_111_R->S 0.000199681 348 chr8:119945260:C:T 1206_310_104_V->M 0.00199681 348 chr8:119945274:C:T 1206_296_99_R->H 0.000199681 348 chr8:119945383:C:T 1206_187_63_A->T 0.000798722 348 chr8:119945473:C:T 1206_97_33_E->K 0.000399361 348 chr8:119945511:G:A 1206_59_20_T->I 0.000199681 348 chr8:119964052:G:C 1206_9_3_N->K 0.333267 348 na12878 Variants: 348 chr8:119964052:G:C 1206_9_3_N->K 348 snyder Variants: 348 chr8:119964052:G:C 1206_9_3_N->K 349 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000345136 gene_Name: PLEC_HUMAN 349 list of pdbs: 349 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 349 3PE0 pdb_description: - - 349 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 349 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 349 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 349 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 349 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 349 Zimmer Variants: 349 chr8:144995494:C:T 13644_8495_2832_R->H;HUB=REG;GENE=PLEC;CDSS=3;DBRECUR=PLEC 349 chr8:145001031:T:C 13644_3965_1322_H->R;HUB=REG;GENE=PLEC;CDSS=3;DBRECUR=PLEC 349 chr8:145007187:G:A 13644_1511_504_A->V;HUB=REG;GENE=PLEC;CDSS=3;DBRECUR=PLEC 349 chr8:144996029:A:G 13644_7960_2654_S->P;HUB=REG;GENE=PLEC;CDSS=2;DBRECUR=PLEC 349 chr8:145001588:C:T 13644_3746_1249_R->Q;HUB=REG;GENE=PLEC;CDSS=2;DBRECUR=PLEC 349 HGMD Variants: 349 chr8:144990692:T:A 13644_13297_4433_K->* 349 chr8:144991571:G:A 13644_12418_4140_R->* 349 chr8:144993086:G:A 13644_10903_3635_Q->* 349 chr8:144993614:G:A 13644_10375_3459_Q->* 349 chr8:144994985:G:A 13644_9004_3002_R->* 349 chr8:144996266:G:A 13644_7723_2575_Q->* 349 chr8:144996281:G:A 13644_7708_2570_Q->* 349 chr8:144996437:G:A 13644_7552_2518_Q->* 349 chr8:144996458:G:A 13644_7531_2511_Q->* 349 chr8:144996782:G:A 13644_7315_2439_Q->* 349 chr8:144996785:G:A 13644_7312_2438_R->* 349 chr8:144996917:G:A 13644_7180_2394_R->* 349 chr8:144997058:G:A 13644_7039_2347_Q->* 349 chr8:144997127:G:A 13644_6970_2324_R->* 349 chr8:144997223:G:A 13644_6874_2292_R->* 349 chr8:144997496:G:A 13644_6601_2201_Q->* 349 chr8:144997886:G:A 13644_6211_2071_Q->* 349 chr8:144998009:G:A 13644_6088_2030_Q->* 349 chr8:144998165:C:A 13644_5932_1978_E->* 349 chr8:144998372:G:A 13644_5725_1909_Q->* 349 chr8:144998408:G:A 13644_5689_1897_Q->* 349 chr8:144998450:G:A 13644_5647_1883_Q->* 349 chr8:144998768:C:A 13644_5329_1777_E->* 349 chr8:144999041:G:A 13644_5056_1686_Q->* 349 chr8:144999248:G:A 13644_4849_1617_Q->* 349 chr8:144999254:G:A 13644_4843_1615_Q->* 349 chr8:144999338:C:A 13644_4759_1587_E->* 349 chr8:144999626:G:A 13644_4471_1491_Q->* 349 chr8:144999830:G:A 13644_4267_1423_Q->* 349 chr8:144999917:G:A 13644_4180_1394_Q->* 349 chr8:144999956:G:A 13644_4141_1381_Q->* 349 chr8:145001850:G:A 13644_3484_1162_R->* 349 chr8:145003587:G:A 13644_3076_1026_Q->* 349 chr8:145003680:G:A 13644_2983_995_Q->* 349 chr8:145009091:G:A 13644_832_278_Q->* 349 chr8:145013584:G:A 13644_46_16_R->* 349 chr8:144992567:C:T 13644_11422_3808_G->S 349 chr8:144993491:G:A 13644_10498_3500_R->C 349 chr8:144995402:T:A 13644_8587_2863_T->S 349 chr8:144998180:G:A 13644_5917_1973_R->W 349 chr8:145009036:C:T 13644_887_296_R->Q 349 oneKG Variants: 349 chr8:145001174:G:A 13644_3916_1306_Q->* 0.000199681 349 chr8:144990353:C:T 13644_13636_4546_V->M 0.000599042 349 chr8:144990356:C:T 13644_13633_4545_A->T 0.000199681 349 chr8:144990365:G:A 13644_13624_4542_P->S 0.000199681 349 chr8:144990391:G:A 13644_13598_4533_S->L 0.000399361 349 chr8:144990400:C:T 13644_13589_4530_R->H 0.000199681 349 chr8:144990446:T:C 13644_13543_4515_M->V 0.000199681 349 chr8:144990461:C:T 13644_13528_4510_G->S 0.000199681 349 chr8:144990479:C:T 13644_13510_4504_G->S 0.000399361 349 chr8:144990482:G:A 13644_13507_4503_R->C 0.000199681 349 chr8:144990491:C:T 13644_13498_4500_G->S 0.000199681 349 chr8:144990587:C:T 13644_13402_4468_A->T 0.00399361 349 chr8:144990742:G:A 13644_13247_4416_T->M 0.000798722 349 chr8:144990746:C:T 13644_13243_4415_G->S 0.000199681 349 chr8:144990748:C:T 13644_13241_4414_R->H 0.000199681 349 chr8:144990749:G:A 13644_13240_4414_R->C 0.000399361 349 chr8:144990784:G:A 13644_13205_4402_T->M 0.0081869 349 chr8:144990795:G:C 13644_13194_4398_I->M 0.000199681 349 chr8:144990934:G:A 13644_13055_4352_A->V 0.000199681 349 chr8:144990989:C:T 13644_13000_4334_D->N 0.000199681 349 chr8:144991004:G:A 13644_12985_4329_R->C 0.000599042 349 chr8:144991082:C:T 13644_12907_4303_V->M 0.000199681 349 chr8:144991172:G:A 13644_12817_4273_P->S 0.00159744 349 chr8:144991205:C:T 13644_12784_4262_V->I 0.0115815 349 chr8:144991208:C:T 13644_12781_4261_A->T 0.000199681 349 chr8:144991271:C:T 13644_12718_4240_A->T 0.000399361 349 chr8:144991312:G:A 13644_12677_4226_T->M 0.000199681 349 chr8:144991318:G:C 13644_12671_4224_A->G 0.000199681 349 chr8:144991342:C:T 13644_12647_4216_R->H 0.000399361 349 chr8:144991361:C:T 13644_12628_4210_A->T 0.00199681 349 chr8:144991534:A:G 13644_12455_4152_M->T 0.000199681 349 chr8:144991559:C:T 13644_12430_4144_V->M 0.000199681 349 chr8:144991612:C:T 13644_12377_4126_R->Q 0.000798722 349 chr8:144991637:G:A 13644_12352_4118_L->F 0.000599042 349 chr8:144991648:G:A 13644_12341_4114_T->M 0.000199681 349 chr8:144991826:G:T 13644_12163_4055_P->T 0.000798722 349 chr8:144991925:G:A 13644_12064_4022_L->F 0.00279553 349 chr8:144991967:C:T 13644_12022_4008_E->K 0.000199681 349 chr8:144992004:A:C 13644_11985_3995_I->M 0.000199681 349 chr8:144992032:G:A 13644_11957_3986_T->M 0.000399361 349 chr8:144992104:G:A 13644_11885_3962_T->I 0.000199681 349 chr8:144992146:G:A 13644_11843_3948_S->L 0.000199681 349 chr8:144992161:G:T 13644_11828_3943_T->N 0.000599042 349 chr8:144992171:C:T 13644_11818_3940_V->M 0.000199681 349 chr8:144992237:T:C 13644_11752_3918_I->V 0.000199681 349 chr8:144992269:G:A 13644_11720_3907_T->M 0.0061901 349 chr8:144992276:C:T 13644_11713_3905_E->K 0.000199681 349 chr8:144992347:C:T 13644_11642_3881_R->H 0.000199681 349 chr8:144992348:G:A 13644_11641_3881_R->C 0.000199681 349 chr8:144992351:C:T 13644_11638_3880_A->T 0.000399361 349 chr8:144992378:C:T 13644_11611_3871_G->S 0.00199681 349 chr8:144992390:C:G 13644_11599_3867_D->H 0.0377396 349 chr8:144992395:C:T 13644_11594_3865_R->H 0.000199681 349 chr8:144992402:G:A 13644_11587_3863_R->W 0.000199681 349 chr8:144992432:C:T 13644_11557_3853_E->K 0.000199681 349 chr8:144992450:C:T 13644_11539_3847_V->M 0.000798722 349 chr8:144992465:C:T 13644_11524_3842_E->K 0.00139776 349 chr8:144992491:G:A 13644_11498_3833_T->M 0.000199681 349 chr8:144992546:C:G 13644_11443_3815_G->R 0.000798722 349 chr8:144992552:G:A 13644_11437_3813_R->C 0.000199681 349 chr8:144992723:C:T 13644_11266_3756_E->K 0.000199681 349 chr8:144992759:C:T 13644_11230_3744_V->M 0.000199681 349 chr8:144992774:C:G 13644_11215_3739_G->R 0.000599042 349 chr8:144992782:G:A 13644_11207_3736_P->L 0.000998403 349 chr8:144992852:C:T 13644_11137_3713_G->R 0.000399361 349 chr8:144992912:C:T 13644_11077_3693_A->T 0.000599042 349 chr8:144992953:G:A 13644_11036_3679_A->V 0.000998403 349 chr8:144992969:G:A 13644_11020_3674_R->C 0.000399361 349 chr8:144992989:C:A 13644_11000_3667_R->L 0.000399361 349 chr8:144992990:G:C 13644_10999_3667_R->G 0.000199681 349 chr8:144993029:C:T 13644_10960_3654_E->K 0.000599042 349 chr8:144993046:G:A 13644_10943_3648_T->M 0.000399361 349 chr8:144993052:C:T 13644_10937_3646_R->H 0.000399361 349 chr8:144993068:C:T 13644_10921_3641_D->N 0.000399361 349 chr8:144993119:C:T 13644_10870_3624_E->K 0.000399361 349 chr8:144993137:T:C 13644_10852_3618_M->V 0.000199681 349 chr8:144993155:G:A 13644_10834_3612_R->W 0.000199681 349 chr8:144993187:C:T 13644_10802_3601_R->Q 0.000199681 349 chr8:144993189:C:A 13644_10800_3600_Q->H 0.000199681 349 chr8:144993201:G:C 13644_10788_3596_I->M 0.000199681 349 chr8:144993325:G:A 13644_10664_3555_T->M 0.000199681 349 chr8:144993338:C:T 13644_10651_3551_V->M 0.000199681 349 chr8:144993352:G:A 13644_10637_3546_A->V 0.000199681 349 chr8:144993374:G:A 13644_10615_3539_R->C 0.000798722 349 chr8:144993382:G:A 13644_10607_3536_T->M 0.000199681 349 chr8:144993383:T:A 13644_10606_3536_T->S 0.000199681 349 chr8:144993424:G:A 13644_10565_3522_T->M 0.00139776 349 chr8:144993453:G:T 13644_10536_3512_F->L 0.000199681 349 chr8:144993491:G:A 13644_10498_3500_R->C 0.000399361 349 chr8:144993515:C:T 13644_10474_3492_G->S 0.000199681 349 chr8:144993517:C:T 13644_10472_3491_R->H 0.00139776 349 chr8:144993527:C:T 13644_10462_3488_A->T 0.000599042 349 chr8:144993530:C:T 13644_10459_3487_V->M 0.000599042 349 chr8:144993544:C:T 13644_10445_3482_R->H 0.000199681 349 chr8:144993601:C:T 13644_10388_3463_R->H 0.000199681 349 chr8:144993617:G:A 13644_10372_3458_R->W 0.000399361 349 chr8:144993686:C:T 13644_10303_3435_G->S 0.000199681 349 chr8:144993745:G:A 13644_10244_3415_A->V 0.000199681 349 chr8:144993782:G:A 13644_10207_3403_R->W 0.000199681 349 chr8:144993785:C:T 13644_10204_3402_V->M 0.000199681 349 chr8:144993830:G:A 13644_10159_3387_L->F 0.000199681 349 chr8:144993832:G:A 13644_10157_3386_A->V 0.000199681 349 chr8:144993859:C:T 13644_10130_3377_R->Q 0.000798722 349 chr8:144993917:C:T 13644_10072_3358_A->T 0.000199681 349 chr8:144993931:C:G 13644_10058_3353_G->A 0.00599042 349 chr8:144993940:A:G 13644_10049_3350_L->P 0.000599042 349 chr8:144993943:G:A 13644_10046_3349_T->M 0.0285543 349 chr8:144993946:C:T 13644_10043_3348_R->Q 0.000399361 349 chr8:144993964:G:A 13644_10025_3342_S->L 0.000199681 349 chr8:144994028:C:T 13644_9961_3321_G->R 0.00339457 349 chr8:144994060:G:A 13644_9929_3310_A->V 0.000199681 349 chr8:144994063:C:T 13644_9926_3309_R->H 0.00139776 349 chr8:144994064:G:A 13644_9925_3309_R->C 0.00219649 349 chr8:144994093:C:T 13644_9896_3299_R->Q 0.000199681 349 chr8:144994094:G:A 13644_9895_3299_R->W 0.00199681 349 chr8:144994148:C:T 13644_9841_3281_V->M 0.000399361 349 chr8:144994174:C:T 13644_9815_3272_R->H 0.000399361 349 chr8:144994189:C:T 13644_9800_3267_R->Q 0.000199681 349 chr8:144994271:C:T 13644_9718_3240_E->K 0.00259585 349 chr8:144994283:T:C 13644_9706_3236_K->E 0.000199681 349 chr8:144994286:C:T 13644_9703_3235_E->K 0.000199681 349 chr8:144994331:G:A 13644_9658_3220_R->W 0.000199681 349 chr8:144994396:C:T 13644_9593_3198_R->Q 0.000199681 349 chr8:144994409:C:T 13644_9580_3194_E->K 0.000199681 349 chr8:144994412:C:T 13644_9577_3193_G->S 0.000199681 349 chr8:144994460:C:T 13644_9529_3177_D->N 0.000399361 349 chr8:144994514:C:T 13644_9475_3159_A->T 0.000399361 349 chr8:144994520:C:A 13644_9469_3157_A->S 0.000199681 349 chr8:144994537:C:T 13644_9452_3151_R->H 0.000199681 349 chr8:144994609:C:T 13644_9380_3127_R->Q 0.000199681 349 chr8:144994681:G:A 13644_9308_3103_T->I 0.000199681 349 chr8:144994721:C:T 13644_9268_3090_E->K 0.000199681 349 chr8:144994741:C:A 13644_9248_3083_R->L 0.000199681 349 chr8:144994742:G:A 13644_9247_3083_R->C 0.000199681 349 chr8:144994769:C:T 13644_9220_3074_A->T 0.000199681 349 chr8:144994798:G:A 13644_9191_3064_T->I 0.000199681 349 chr8:144994822:G:T 13644_9167_3056_A->D 0.000199681 349 chr8:144994841:G:A 13644_9148_3050_P->S 0.000199681 349 chr8:144994873:C:T 13644_9116_3039_S->N 0.000199681 349 chr8:144994888:G:A 13644_9101_3034_A->V 0.0275559 349 chr8:144994916:C:T 13644_9073_3025_V->I 0.0836661 349 chr8:144994918:T:C 13644_9071_3024_N->S 0.000199681 349 chr8:144994936:C:T 13644_9053_3018_R->Q 0.000199681 349 chr8:144994940:G:A 13644_9049_3017_R->W 0.000599042 349 chr8:144994955:C:T 13644_9034_3012_E->K 0.000599042 349 chr8:144994966:C:T 13644_9023_3008_R->Q 0.000199681 349 chr8:144994975:C:T 13644_9014_3005_R->H 0.000399361 349 chr8:144995056:C:T 13644_8933_2978_R->H 0.000399361 349 chr8:144995077:C:T 13644_8912_2971_R->Q 0.000199681 349 chr8:144995144:G:A 13644_8845_2949_R->W 0.000199681 349 chr8:144995153:G:A 13644_8836_2946_R->C 0.000199681 349 chr8:144995169:G:C 13644_8820_2940_D->E 0.0648962 349 chr8:144995227:G:A 13644_8762_2921_T->M 0.000599042 349 chr8:144995323:G:A 13644_8666_2889_A->V 0.000199681 349 chr8:144995329:T:C 13644_8660_2887_K->R 0.00119808 349 chr8:144995375:C:T 13644_8614_2872_V->M 0.000199681 349 chr8:144995401:G:A 13644_8588_2863_T->M 0.000199681 349 chr8:144995458:G:A 13644_8531_2844_A->V 0.000798722 349 chr8:144995467:C:T 13644_8522_2841_R->H 0.000199681 349 chr8:144995468:G:A 13644_8521_2841_R->C 0.000199681 349 chr8:144995477:C:T 13644_8512_2838_E->K 0.000199681 349 chr8:144995480:C:T 13644_8509_2837_E->K 0.000199681 349 chr8:144995483:C:T 13644_8506_2836_D->N 0.000399361 349 chr8:144995494:C:T 13644_8495_2832_R->H 0.230631 349 chr8:144995500:T:C 13644_8489_2830_Y->C 0.00319489 349 chr8:144995521:C:T 13644_8468_2823_R->H 0.000199681 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0.000199681 349 chr8:145013604:G:A 13644_26_9_P->L 0.000599042 349 na12878 Variants: 349 chr8:144995494:C:T 13644_8495_2832_R->H 349 chr8:145001031:T:C 13644_3965_1322_H->R 349 chr8:145007187:G:A 13644_1511_504_A->V 349 chr8:144996029:A:G 13644_7960_2654_S->P 349 chr8:145001588:C:T 13644_3746_1249_R->Q 349 snyder Variants: 349 chr8:144994888:G:A 13644_9101_3034_A->V 349 chr8:144995494:C:T 13644_8495_2832_R->H 349 chr8:145001031:T:C 13644_3965_1322_H->R 349 chr8:145007187:G:A 13644_1511_504_A->V 349 chr8:144996029:A:G 13644_7960_2654_S->P 349 chr8:145001588:C:T 13644_3746_1249_R->Q 350 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000357649 gene_Name: PLEC_HUMAN 350 list of pdbs: 350 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 350 3PE0 pdb_description: - - 350 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 350 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 350 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 350 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 350 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 350 Zimmer Variants: 350 chr8:144995494:C:T 13656_8507_2836_R->H 350 chr8:145001031:T:C 13656_3977_1326_H->R 350 chr8:145007187:G:A 13656_1523_508_A->V 350 chr8:144996029:A:G 13656_7972_2658_S->P 350 chr8:145001588:C:T 13656_3758_1253_R->Q 350 HGMD Variants: 350 chr8:144990692:T:A 13656_13309_4437_K->* 350 chr8:144991571:G:A 13656_12430_4144_R->* 350 chr8:144993086:G:A 13656_10915_3639_Q->* 350 chr8:144993614:G:A 13656_10387_3463_Q->* 350 chr8:144994985:G:A 13656_9016_3006_R->* 350 chr8:144996266:G:A 13656_7735_2579_Q->* 350 chr8:144996281:G:A 13656_7720_2574_Q->* 350 chr8:144996437:G:A 13656_7564_2522_Q->* 350 chr8:144996458:G:A 13656_7543_2515_Q->* 350 chr8:144996782:G:A 13656_7327_2443_Q->* 350 chr8:144996785:G:A 13656_7324_2442_R->* 350 chr8:144996917:G:A 13656_7192_2398_R->* 350 chr8:144997058:G:A 13656_7051_2351_Q->* 350 chr8:144997127:G:A 13656_6982_2328_R->* 350 chr8:144997223:G:A 13656_6886_2296_R->* 350 chr8:144997496:G:A 13656_6613_2205_Q->* 350 chr8:144997886:G:A 13656_6223_2075_Q->* 350 chr8:144998009:G:A 13656_6100_2034_Q->* 350 chr8:144998165:C:A 13656_5944_1982_E->* 350 chr8:144998372:G:A 13656_5737_1913_Q->* 350 chr8:144998408:G:A 13656_5701_1901_Q->* 350 chr8:144998450:G:A 13656_5659_1887_Q->* 350 chr8:144998768:C:A 13656_5341_1781_E->* 350 chr8:144999041:G:A 13656_5068_1690_Q->* 350 chr8:144999248:G:A 13656_4861_1621_Q->* 350 chr8:144999254:G:A 13656_4855_1619_Q->* 350 chr8:144999338:C:A 13656_4771_1591_E->* 350 chr8:144999626:G:A 13656_4483_1495_Q->* 350 chr8:144999830:G:A 13656_4279_1427_Q->* 350 chr8:144999917:G:A 13656_4192_1398_Q->* 350 chr8:144999956:G:A 13656_4153_1385_Q->* 350 chr8:145001850:G:A 13656_3496_1166_R->* 350 chr8:145003587:G:A 13656_3088_1030_Q->* 350 chr8:145003680:G:A 13656_2995_999_Q->* 350 chr8:145009091:G:A 13656_844_282_Q->* 350 chr8:144992567:C:T 13656_11434_3812_G->S 350 chr8:144993491:G:A 13656_10510_3504_R->C 350 chr8:144995402:T:A 13656_8599_2867_T->S 350 chr8:144998180:G:A 13656_5929_1977_R->W 350 chr8:145009036:C:T 13656_899_300_R->Q 350 oneKG Variants: 350 chr8:145001174:G:A 13656_3928_1310_Q->* 0.000199681 350 chr8:144990353:C:T 13656_13648_4550_V->M 0.000599042 350 chr8:144990356:C:T 13656_13645_4549_A->T 0.000199681 350 chr8:144990365:G:A 13656_13636_4546_P->S 0.000199681 350 chr8:144990391:G:A 13656_13610_4537_S->L 0.000399361 350 chr8:144990400:C:T 13656_13601_4534_R->H 0.000199681 350 chr8:144990446:T:C 13656_13555_4519_M->V 0.000199681 350 chr8:144990461:C:T 13656_13540_4514_G->S 0.000199681 350 chr8:144990479:C:T 13656_13522_4508_G->S 0.000399361 350 chr8:144990482:G:A 13656_13519_4507_R->C 0.000199681 350 chr8:144990491:C:T 13656_13510_4504_G->S 0.000199681 350 chr8:144990587:C:T 13656_13414_4472_A->T 0.00399361 350 chr8:144990742:G:A 13656_13259_4420_T->M 0.000798722 350 chr8:144990746:C:T 13656_13255_4419_G->S 0.000199681 350 chr8:144990748:C:T 13656_13253_4418_R->H 0.000199681 350 chr8:144990749:G:A 13656_13252_4418_R->C 0.000399361 350 chr8:144990784:G:A 13656_13217_4406_T->M 0.0081869 350 chr8:144990795:G:C 13656_13206_4402_I->M 0.000199681 350 chr8:144990934:G:A 13656_13067_4356_A->V 0.000199681 350 chr8:144990989:C:T 13656_13012_4338_D->N 0.000199681 350 chr8:144991004:G:A 13656_12997_4333_R->C 0.000599042 350 chr8:144991082:C:T 13656_12919_4307_V->M 0.000199681 350 chr8:144991172:G:A 13656_12829_4277_P->S 0.00159744 350 chr8:144991205:C:T 13656_12796_4266_V->I 0.0115815 350 chr8:144991208:C:T 13656_12793_4265_A->T 0.000199681 350 chr8:144991271:C:T 13656_12730_4244_A->T 0.000399361 350 chr8:144991312:G:A 13656_12689_4230_T->M 0.000199681 350 chr8:144991318:G:C 13656_12683_4228_A->G 0.000199681 350 chr8:144991342:C:T 13656_12659_4220_R->H 0.000399361 350 chr8:144991361:C:T 13656_12640_4214_A->T 0.00199681 350 chr8:144991534:A:G 13656_12467_4156_M->T 0.000199681 350 chr8:144991559:C:T 13656_12442_4148_V->M 0.000199681 350 chr8:144991612:C:T 13656_12389_4130_R->Q 0.000798722 350 chr8:144991637:G:A 13656_12364_4122_L->F 0.000599042 350 chr8:144991648:G:A 13656_12353_4118_T->M 0.000199681 350 chr8:144991826:G:T 13656_12175_4059_P->T 0.000798722 350 chr8:144991925:G:A 13656_12076_4026_L->F 0.00279553 350 chr8:144991967:C:T 13656_12034_4012_E->K 0.000199681 350 chr8:144992004:A:C 13656_11997_3999_I->M 0.000199681 350 chr8:144992032:G:A 13656_11969_3990_T->M 0.000399361 350 chr8:144992104:G:A 13656_11897_3966_T->I 0.000199681 350 chr8:144992146:G:A 13656_11855_3952_S->L 0.000199681 350 chr8:144992161:G:T 13656_11840_3947_T->N 0.000599042 350 chr8:144992171:C:T 13656_11830_3944_V->M 0.000199681 350 chr8:144992237:T:C 13656_11764_3922_I->V 0.000199681 350 chr8:144992269:G:A 13656_11732_3911_T->M 0.0061901 350 chr8:144992276:C:T 13656_11725_3909_E->K 0.000199681 350 chr8:144992347:C:T 13656_11654_3885_R->H 0.000199681 350 chr8:144992348:G:A 13656_11653_3885_R->C 0.000199681 350 chr8:144992351:C:T 13656_11650_3884_A->T 0.000399361 350 chr8:144992378:C:T 13656_11623_3875_G->S 0.00199681 350 chr8:144992390:C:G 13656_11611_3871_D->H 0.0377396 350 chr8:144992395:C:T 13656_11606_3869_R->H 0.000199681 350 chr8:144992402:G:A 13656_11599_3867_R->W 0.000199681 350 chr8:144992432:C:T 13656_11569_3857_E->K 0.000199681 350 chr8:144992450:C:T 13656_11551_3851_V->M 0.000798722 350 chr8:144992465:C:T 13656_11536_3846_E->K 0.00139776 350 chr8:144992491:G:A 13656_11510_3837_T->M 0.000199681 350 chr8:144992546:C:G 13656_11455_3819_G->R 0.000798722 350 chr8:144992552:G:A 13656_11449_3817_R->C 0.000199681 350 chr8:144992723:C:T 13656_11278_3760_E->K 0.000199681 350 chr8:144992759:C:T 13656_11242_3748_V->M 0.000199681 350 chr8:144992774:C:G 13656_11227_3743_G->R 0.000599042 350 chr8:144992782:G:A 13656_11219_3740_P->L 0.000998403 350 chr8:144992852:C:T 13656_11149_3717_G->R 0.000399361 350 chr8:144992912:C:T 13656_11089_3697_A->T 0.000599042 350 chr8:144992953:G:A 13656_11048_3683_A->V 0.000998403 350 chr8:144992969:G:A 13656_11032_3678_R->C 0.000399361 350 chr8:144992989:C:A 13656_11012_3671_R->L 0.000399361 350 chr8:144992990:G:C 13656_11011_3671_R->G 0.000199681 350 chr8:144993029:C:T 13656_10972_3658_E->K 0.000599042 350 chr8:144993046:G:A 13656_10955_3652_T->M 0.000399361 350 chr8:144993052:C:T 13656_10949_3650_R->H 0.000399361 350 chr8:144993068:C:T 13656_10933_3645_D->N 0.000399361 350 chr8:144993119:C:T 13656_10882_3628_E->K 0.000399361 350 chr8:144993137:T:C 13656_10864_3622_M->V 0.000199681 350 chr8:144993155:G:A 13656_10846_3616_R->W 0.000199681 350 chr8:144993187:C:T 13656_10814_3605_R->Q 0.000199681 350 chr8:144993189:C:A 13656_10812_3604_Q->H 0.000199681 350 chr8:144993201:G:C 13656_10800_3600_I->M 0.000199681 350 chr8:144993325:G:A 13656_10676_3559_T->M 0.000199681 350 chr8:144993338:C:T 13656_10663_3555_V->M 0.000199681 350 chr8:144993352:G:A 13656_10649_3550_A->V 0.000199681 350 chr8:144993374:G:A 13656_10627_3543_R->C 0.000798722 350 chr8:144993382:G:A 13656_10619_3540_T->M 0.000199681 350 chr8:144993383:T:A 13656_10618_3540_T->S 0.000199681 350 chr8:144993424:G:A 13656_10577_3526_T->M 0.00139776 350 chr8:144993453:G:T 13656_10548_3516_F->L 0.000199681 350 chr8:144993491:G:A 13656_10510_3504_R->C 0.000399361 350 chr8:144993515:C:T 13656_10486_3496_G->S 0.000199681 350 chr8:144993517:C:T 13656_10484_3495_R->H 0.00139776 350 chr8:144993527:C:T 13656_10474_3492_A->T 0.000599042 350 chr8:144993530:C:T 13656_10471_3491_V->M 0.000599042 350 chr8:144993544:C:T 13656_10457_3486_R->H 0.000199681 350 chr8:144993601:C:T 13656_10400_3467_R->H 0.000199681 350 chr8:144993617:G:A 13656_10384_3462_R->W 0.000399361 350 chr8:144993686:C:T 13656_10315_3439_G->S 0.000199681 350 chr8:144993745:G:A 13656_10256_3419_A->V 0.000199681 350 chr8:144993782:G:A 13656_10219_3407_R->W 0.000199681 350 chr8:144993785:C:T 13656_10216_3406_V->M 0.000199681 350 chr8:144993830:G:A 13656_10171_3391_L->F 0.000199681 350 chr8:144993832:G:A 13656_10169_3390_A->V 0.000199681 350 chr8:144993859:C:T 13656_10142_3381_R->Q 0.000798722 350 chr8:144993917:C:T 13656_10084_3362_A->T 0.000199681 350 chr8:144993931:C:G 13656_10070_3357_G->A 0.00599042 350 chr8:144993940:A:G 13656_10061_3354_L->P 0.000599042 350 chr8:144993943:G:A 13656_10058_3353_T->M 0.0285543 350 chr8:144993946:C:T 13656_10055_3352_R->Q 0.000399361 350 chr8:144993964:G:A 13656_10037_3346_S->L 0.000199681 350 chr8:144994028:C:T 13656_9973_3325_G->R 0.00339457 350 chr8:144994060:G:A 13656_9941_3314_A->V 0.000199681 350 chr8:144994063:C:T 13656_9938_3313_R->H 0.00139776 350 chr8:144994064:G:A 13656_9937_3313_R->C 0.00219649 350 chr8:144994093:C:T 13656_9908_3303_R->Q 0.000199681 350 chr8:144994094:G:A 13656_9907_3303_R->W 0.00199681 350 chr8:144994148:C:T 13656_9853_3285_V->M 0.000399361 350 chr8:144994174:C:T 13656_9827_3276_R->H 0.000399361 350 chr8:144994189:C:T 13656_9812_3271_R->Q 0.000199681 350 chr8:144994271:C:T 13656_9730_3244_E->K 0.00259585 350 chr8:144994283:T:C 13656_9718_3240_K->E 0.000199681 350 chr8:144994286:C:T 13656_9715_3239_E->K 0.000199681 350 chr8:144994331:G:A 13656_9670_3224_R->W 0.000199681 350 chr8:144994396:C:T 13656_9605_3202_R->Q 0.000199681 350 chr8:144994409:C:T 13656_9592_3198_E->K 0.000199681 350 chr8:144994412:C:T 13656_9589_3197_G->S 0.000199681 350 chr8:144994460:C:T 13656_9541_3181_D->N 0.000399361 350 chr8:144994514:C:T 13656_9487_3163_A->T 0.000399361 350 chr8:144994520:C:A 13656_9481_3161_A->S 0.000199681 350 chr8:144994537:C:T 13656_9464_3155_R->H 0.000199681 350 chr8:144994609:C:T 13656_9392_3131_R->Q 0.000199681 350 chr8:144994681:G:A 13656_9320_3107_T->I 0.000199681 350 chr8:144994721:C:T 13656_9280_3094_E->K 0.000199681 350 chr8:144994741:C:A 13656_9260_3087_R->L 0.000199681 350 chr8:144994742:G:A 13656_9259_3087_R->C 0.000199681 350 chr8:144994769:C:T 13656_9232_3078_A->T 0.000199681 350 chr8:144994798:G:A 13656_9203_3068_T->I 0.000199681 350 chr8:144994822:G:T 13656_9179_3060_A->D 0.000199681 350 chr8:144994841:G:A 13656_9160_3054_P->S 0.000199681 350 chr8:144994873:C:T 13656_9128_3043_S->N 0.000199681 350 chr8:144994888:G:A 13656_9113_3038_A->V 0.0275559 350 chr8:144994916:C:T 13656_9085_3029_V->I 0.0836661 350 chr8:144994918:T:C 13656_9083_3028_N->S 0.000199681 350 chr8:144994936:C:T 13656_9065_3022_R->Q 0.000199681 350 chr8:144994940:G:A 13656_9061_3021_R->W 0.000599042 350 chr8:144994955:C:T 13656_9046_3016_E->K 0.000599042 350 chr8:144994966:C:T 13656_9035_3012_R->Q 0.000199681 350 chr8:144994975:C:T 13656_9026_3009_R->H 0.000399361 350 chr8:144995056:C:T 13656_8945_2982_R->H 0.000399361 350 chr8:144995077:C:T 13656_8924_2975_R->Q 0.000199681 350 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chr8:145008989:C:T 13656_946_316_E->K 0.000199681 350 chr8:145009022:C:T 13656_913_305_A->T 0.000399361 350 chr8:145009036:C:T 13656_899_300_R->Q 0.00399361 350 chr8:145009038:C:T 13656_897_299_M->I 0.000199681 350 chr8:145009069:C:T 13656_866_289_R->Q 0.00399361 350 chr8:145009070:G:A 13656_865_289_R->W 0.000199681 350 chr8:145009402:G:A 13656_694_232_R->W 0.000998403 350 chr8:145009424:G:C 13656_672_224_D->E 0.000399361 350 chr8:145009426:C:A 13656_670_224_D->Y 0.000199681 350 chr8:145009449:C:T 13656_647_216_R->Q 0.000199681 350 chr8:145009450:G:A 13656_646_216_R->W 0.000599042 350 chr8:145010067:G:A 13656_563_188_T->I 0.000199681 350 chr8:145012407:G:A 13656_188_63_A->V 0.000199681 350 chr8:145012801:T:C 13656_184_62_K->E 0.000399361 350 chr8:145016601:G:A 13656_83_28_P->L 0.000199681 350 chr8:145016644:C:T 13656_40_14_V->I 0.000998403 350 chr8:145016673:G:T 13656_11_4_A->E 0.000199681 350 na12878 Variants: 350 chr8:144995494:C:T 13656_8507_2836_R->H 350 chr8:145001031:T:C 13656_3977_1326_H->R 350 chr8:145007187:G:A 13656_1523_508_A->V 350 chr8:144996029:A:G 13656_7972_2658_S->P 350 chr8:145001588:C:T 13656_3758_1253_R->Q 350 snyder Variants: 350 chr8:144994888:G:A 13656_9113_3038_A->V 350 chr8:144995494:C:T 13656_8507_2836_R->H 350 chr8:145001031:T:C 13656_3977_1326_H->R 350 chr8:145007187:G:A 13656_1523_508_A->V 350 chr8:144996029:A:G 13656_7972_2658_S->P 350 chr8:145001588:C:T 13656_3758_1253_R->Q 351 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000354589 gene_Name: PLEC_HUMAN 351 list of pdbs: 351 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 351 3PE0 pdb_description: - - 351 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 351 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 351 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 351 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 351 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 351 Zimmer Variants: 351 chr8:144995494:C:T 13644_8495_2832_R->H 351 chr8:145001031:T:C 13644_3965_1322_H->R 351 chr8:145007187:G:A 13644_1511_504_A->V 351 chr8:144996029:A:G 13644_7960_2654_S->P 351 chr8:145001588:C:T 13644_3746_1249_R->Q 351 HGMD Variants: 351 chr8:144990692:T:A 13644_13297_4433_K->* 351 chr8:144991571:G:A 13644_12418_4140_R->* 351 chr8:144993086:G:A 13644_10903_3635_Q->* 351 chr8:144993614:G:A 13644_10375_3459_Q->* 351 chr8:144994985:G:A 13644_9004_3002_R->* 351 chr8:144996266:G:A 13644_7723_2575_Q->* 351 chr8:144996281:G:A 13644_7708_2570_Q->* 351 chr8:144996437:G:A 13644_7552_2518_Q->* 351 chr8:144996458:G:A 13644_7531_2511_Q->* 351 chr8:144996782:G:A 13644_7315_2439_Q->* 351 chr8:144996785:G:A 13644_7312_2438_R->* 351 chr8:144996917:G:A 13644_7180_2394_R->* 351 chr8:144997058:G:A 13644_7039_2347_Q->* 351 chr8:144997127:G:A 13644_6970_2324_R->* 351 chr8:144997223:G:A 13644_6874_2292_R->* 351 chr8:144997496:G:A 13644_6601_2201_Q->* 351 chr8:144997886:G:A 13644_6211_2071_Q->* 351 chr8:144998009:G:A 13644_6088_2030_Q->* 351 chr8:144998165:C:A 13644_5932_1978_E->* 351 chr8:144998372:G:A 13644_5725_1909_Q->* 351 chr8:144998408:G:A 13644_5689_1897_Q->* 351 chr8:144998450:G:A 13644_5647_1883_Q->* 351 chr8:144998768:C:A 13644_5329_1777_E->* 351 chr8:144999041:G:A 13644_5056_1686_Q->* 351 chr8:144999248:G:A 13644_4849_1617_Q->* 351 chr8:144999254:G:A 13644_4843_1615_Q->* 351 chr8:144999338:C:A 13644_4759_1587_E->* 351 chr8:144999626:G:A 13644_4471_1491_Q->* 351 chr8:144999830:G:A 13644_4267_1423_Q->* 351 chr8:144999917:G:A 13644_4180_1394_Q->* 351 chr8:144999956:G:A 13644_4141_1381_Q->* 351 chr8:145001850:G:A 13644_3484_1162_R->* 351 chr8:145003587:G:A 13644_3076_1026_Q->* 351 chr8:145003680:G:A 13644_2983_995_Q->* 351 chr8:145009091:G:A 13644_832_278_Q->* 351 chr8:144992567:C:T 13644_11422_3808_G->S 351 chr8:144993491:G:A 13644_10498_3500_R->C 351 chr8:144995402:T:A 13644_8587_2863_T->S 351 chr8:144998180:G:A 13644_5917_1973_R->W 351 chr8:145009036:C:T 13644_887_296_R->Q 351 oneKG Variants: 351 chr8:145001174:G:A 13644_3916_1306_Q->* 0.000199681 351 chr8:144990353:C:T 13644_13636_4546_V->M 0.000599042 351 chr8:144990356:C:T 13644_13633_4545_A->T 0.000199681 351 chr8:144990365:G:A 13644_13624_4542_P->S 0.000199681 351 chr8:144990391:G:A 13644_13598_4533_S->L 0.000399361 351 chr8:144990400:C:T 13644_13589_4530_R->H 0.000199681 351 chr8:144990446:T:C 13644_13543_4515_M->V 0.000199681 351 chr8:144990461:C:T 13644_13528_4510_G->S 0.000199681 351 chr8:144990479:C:T 13644_13510_4504_G->S 0.000399361 351 chr8:144990482:G:A 13644_13507_4503_R->C 0.000199681 351 chr8:144990491:C:T 13644_13498_4500_G->S 0.000199681 351 chr8:144990587:C:T 13644_13402_4468_A->T 0.00399361 351 chr8:144990742:G:A 13644_13247_4416_T->M 0.000798722 351 chr8:144990746:C:T 13644_13243_4415_G->S 0.000199681 351 chr8:144990748:C:T 13644_13241_4414_R->H 0.000199681 351 chr8:144990749:G:A 13644_13240_4414_R->C 0.000399361 351 chr8:144990784:G:A 13644_13205_4402_T->M 0.0081869 351 chr8:144990795:G:C 13644_13194_4398_I->M 0.000199681 351 chr8:144990934:G:A 13644_13055_4352_A->V 0.000199681 351 chr8:144990989:C:T 13644_13000_4334_D->N 0.000199681 351 chr8:144991004:G:A 13644_12985_4329_R->C 0.000599042 351 chr8:144991082:C:T 13644_12907_4303_V->M 0.000199681 351 chr8:144991172:G:A 13644_12817_4273_P->S 0.00159744 351 chr8:144991205:C:T 13644_12784_4262_V->I 0.0115815 351 chr8:144991208:C:T 13644_12781_4261_A->T 0.000199681 351 chr8:144991271:C:T 13644_12718_4240_A->T 0.000399361 351 chr8:144991312:G:A 13644_12677_4226_T->M 0.000199681 351 chr8:144991318:G:C 13644_12671_4224_A->G 0.000199681 351 chr8:144991342:C:T 13644_12647_4216_R->H 0.000399361 351 chr8:144991361:C:T 13644_12628_4210_A->T 0.00199681 351 chr8:144991534:A:G 13644_12455_4152_M->T 0.000199681 351 chr8:144991559:C:T 13644_12430_4144_V->M 0.000199681 351 chr8:144991612:C:T 13644_12377_4126_R->Q 0.000798722 351 chr8:144991637:G:A 13644_12352_4118_L->F 0.000599042 351 chr8:144991648:G:A 13644_12341_4114_T->M 0.000199681 351 chr8:144991826:G:T 13644_12163_4055_P->T 0.000798722 351 chr8:144991925:G:A 13644_12064_4022_L->F 0.00279553 351 chr8:144991967:C:T 13644_12022_4008_E->K 0.000199681 351 chr8:144992004:A:C 13644_11985_3995_I->M 0.000199681 351 chr8:144992032:G:A 13644_11957_3986_T->M 0.000399361 351 chr8:144992104:G:A 13644_11885_3962_T->I 0.000199681 351 chr8:144992146:G:A 13644_11843_3948_S->L 0.000199681 351 chr8:144992161:G:T 13644_11828_3943_T->N 0.000599042 351 chr8:144992171:C:T 13644_11818_3940_V->M 0.000199681 351 chr8:144992237:T:C 13644_11752_3918_I->V 0.000199681 351 chr8:144992269:G:A 13644_11720_3907_T->M 0.0061901 351 chr8:144992276:C:T 13644_11713_3905_E->K 0.000199681 351 chr8:144992347:C:T 13644_11642_3881_R->H 0.000199681 351 chr8:144992348:G:A 13644_11641_3881_R->C 0.000199681 351 chr8:144992351:C:T 13644_11638_3880_A->T 0.000399361 351 chr8:144992378:C:T 13644_11611_3871_G->S 0.00199681 351 chr8:144992390:C:G 13644_11599_3867_D->H 0.0377396 351 chr8:144992395:C:T 13644_11594_3865_R->H 0.000199681 351 chr8:144992402:G:A 13644_11587_3863_R->W 0.000199681 351 chr8:144992432:C:T 13644_11557_3853_E->K 0.000199681 351 chr8:144992450:C:T 13644_11539_3847_V->M 0.000798722 351 chr8:144992465:C:T 13644_11524_3842_E->K 0.00139776 351 chr8:144992491:G:A 13644_11498_3833_T->M 0.000199681 351 chr8:144992546:C:G 13644_11443_3815_G->R 0.000798722 351 chr8:144992552:G:A 13644_11437_3813_R->C 0.000199681 351 chr8:144992723:C:T 13644_11266_3756_E->K 0.000199681 351 chr8:144992759:C:T 13644_11230_3744_V->M 0.000199681 351 chr8:144992774:C:G 13644_11215_3739_G->R 0.000599042 351 chr8:144992782:G:A 13644_11207_3736_P->L 0.000998403 351 chr8:144992852:C:T 13644_11137_3713_G->R 0.000399361 351 chr8:144992912:C:T 13644_11077_3693_A->T 0.000599042 351 chr8:144992953:G:A 13644_11036_3679_A->V 0.000998403 351 chr8:144992969:G:A 13644_11020_3674_R->C 0.000399361 351 chr8:144992989:C:A 13644_11000_3667_R->L 0.000399361 351 chr8:144992990:G:C 13644_10999_3667_R->G 0.000199681 351 chr8:144993029:C:T 13644_10960_3654_E->K 0.000599042 351 chr8:144993046:G:A 13644_10943_3648_T->M 0.000399361 351 chr8:144993052:C:T 13644_10937_3646_R->H 0.000399361 351 chr8:144993068:C:T 13644_10921_3641_D->N 0.000399361 351 chr8:144993119:C:T 13644_10870_3624_E->K 0.000399361 351 chr8:144993137:T:C 13644_10852_3618_M->V 0.000199681 351 chr8:144993155:G:A 13644_10834_3612_R->W 0.000199681 351 chr8:144993187:C:T 13644_10802_3601_R->Q 0.000199681 351 chr8:144993189:C:A 13644_10800_3600_Q->H 0.000199681 351 chr8:144993201:G:C 13644_10788_3596_I->M 0.000199681 351 chr8:144993325:G:A 13644_10664_3555_T->M 0.000199681 351 chr8:144993338:C:T 13644_10651_3551_V->M 0.000199681 351 chr8:144993352:G:A 13644_10637_3546_A->V 0.000199681 351 chr8:144993374:G:A 13644_10615_3539_R->C 0.000798722 351 chr8:144993382:G:A 13644_10607_3536_T->M 0.000199681 351 chr8:144993383:T:A 13644_10606_3536_T->S 0.000199681 351 chr8:144993424:G:A 13644_10565_3522_T->M 0.00139776 351 chr8:144993453:G:T 13644_10536_3512_F->L 0.000199681 351 chr8:144993491:G:A 13644_10498_3500_R->C 0.000399361 351 chr8:144993515:C:T 13644_10474_3492_G->S 0.000199681 351 chr8:144993517:C:T 13644_10472_3491_R->H 0.00139776 351 chr8:144993527:C:T 13644_10462_3488_A->T 0.000599042 351 chr8:144993530:C:T 13644_10459_3487_V->M 0.000599042 351 chr8:144993544:C:T 13644_10445_3482_R->H 0.000199681 351 chr8:144993601:C:T 13644_10388_3463_R->H 0.000199681 351 chr8:144993617:G:A 13644_10372_3458_R->W 0.000399361 351 chr8:144993686:C:T 13644_10303_3435_G->S 0.000199681 351 chr8:144993745:G:A 13644_10244_3415_A->V 0.000199681 351 chr8:144993782:G:A 13644_10207_3403_R->W 0.000199681 351 chr8:144993785:C:T 13644_10204_3402_V->M 0.000199681 351 chr8:144993830:G:A 13644_10159_3387_L->F 0.000199681 351 chr8:144993832:G:A 13644_10157_3386_A->V 0.000199681 351 chr8:144993859:C:T 13644_10130_3377_R->Q 0.000798722 351 chr8:144993917:C:T 13644_10072_3358_A->T 0.000199681 351 chr8:144993931:C:G 13644_10058_3353_G->A 0.00599042 351 chr8:144993940:A:G 13644_10049_3350_L->P 0.000599042 351 chr8:144993943:G:A 13644_10046_3349_T->M 0.0285543 351 chr8:144993946:C:T 13644_10043_3348_R->Q 0.000399361 351 chr8:144993964:G:A 13644_10025_3342_S->L 0.000199681 351 chr8:144994028:C:T 13644_9961_3321_G->R 0.00339457 351 chr8:144994060:G:A 13644_9929_3310_A->V 0.000199681 351 chr8:144994063:C:T 13644_9926_3309_R->H 0.00139776 351 chr8:144994064:G:A 13644_9925_3309_R->C 0.00219649 351 chr8:144994093:C:T 13644_9896_3299_R->Q 0.000199681 351 chr8:144994094:G:A 13644_9895_3299_R->W 0.00199681 351 chr8:144994148:C:T 13644_9841_3281_V->M 0.000399361 351 chr8:144994174:C:T 13644_9815_3272_R->H 0.000399361 351 chr8:144994189:C:T 13644_9800_3267_R->Q 0.000199681 351 chr8:144994271:C:T 13644_9718_3240_E->K 0.00259585 351 chr8:144994283:T:C 13644_9706_3236_K->E 0.000199681 351 chr8:144994286:C:T 13644_9703_3235_E->K 0.000199681 351 chr8:144994331:G:A 13644_9658_3220_R->W 0.000199681 351 chr8:144994396:C:T 13644_9593_3198_R->Q 0.000199681 351 chr8:144994409:C:T 13644_9580_3194_E->K 0.000199681 351 chr8:144994412:C:T 13644_9577_3193_G->S 0.000199681 351 chr8:144994460:C:T 13644_9529_3177_D->N 0.000399361 351 chr8:144994514:C:T 13644_9475_3159_A->T 0.000399361 351 chr8:144994520:C:A 13644_9469_3157_A->S 0.000199681 351 chr8:144994537:C:T 13644_9452_3151_R->H 0.000199681 351 chr8:144994609:C:T 13644_9380_3127_R->Q 0.000199681 351 chr8:144994681:G:A 13644_9308_3103_T->I 0.000199681 351 chr8:144994721:C:T 13644_9268_3090_E->K 0.000199681 351 chr8:144994741:C:A 13644_9248_3083_R->L 0.000199681 351 chr8:144994742:G:A 13644_9247_3083_R->C 0.000199681 351 chr8:144994769:C:T 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chr8:145007158:G:A 13644_1540_514_R->C 0.000199681 351 chr8:145007187:G:A 13644_1511_504_A->V 0.23143 351 chr8:145007212:C:T 13644_1486_496_V->M 0.000199681 351 chr8:145007244:C:A 13644_1454_485_R->L 0.000798722 351 chr8:145007260:G:A 13644_1438_480_R->C 0.000798722 351 chr8:145007368:C:T 13644_1415_472_R->H 0.000199681 351 chr8:145007369:G:A 13644_1414_472_R->C 0.000199681 351 chr8:145007396:G:A 13644_1387_463_R->W 0.000399361 351 chr8:145007464:C:T 13644_1319_440_R->Q 0.000199681 351 chr8:145007500:G:A 13644_1283_428_A->V 0.000798722 351 chr8:145007512:C:T 13644_1271_424_R->Q 0.000199681 351 chr8:145008202:C:G 13644_1227_409_E->D 0.000199681 351 chr8:145008497:G:C 13644_1158_386_S->R 0.000998403 351 chr8:145008532:C:T 13644_1123_375_V->M 0.000399361 351 chr8:145008592:G:A 13644_1063_355_L->F 0.000199681 351 chr8:145008989:C:T 13644_934_312_E->K 0.000199681 351 chr8:145009022:C:T 13644_901_301_A->T 0.000399361 351 chr8:145009036:C:T 13644_887_296_R->Q 0.00399361 351 chr8:145009038:C:T 13644_885_295_M->I 0.000199681 351 chr8:145009069:C:T 13644_854_285_R->Q 0.00399361 351 chr8:145009070:G:A 13644_853_285_R->W 0.000199681 351 chr8:145009402:G:A 13644_682_228_R->W 0.000998403 351 chr8:145009424:G:C 13644_660_220_D->E 0.000399361 351 chr8:145009426:C:A 13644_658_220_D->Y 0.000199681 351 chr8:145009449:C:T 13644_635_212_R->Q 0.000199681 351 chr8:145009450:G:A 13644_634_212_R->W 0.000599042 351 chr8:145010067:G:A 13644_551_184_T->I 0.000199681 351 chr8:145012407:G:A 13644_176_59_A->V 0.000199681 351 chr8:145012801:T:C 13644_172_58_K->E 0.000399361 351 chr8:145017953:C:T 13644_106_36_E->K 0.000399361 351 chr8:145017970:C:A 13644_89_30_R->L 0.00159744 351 chr8:145017979:C:T 13644_80_27_R->H 0.000399361 351 chr8:145018003:G:C 13644_56_19_T->S 0.000199681 351 na12878 Variants: 351 chr8:144995494:C:T 13644_8495_2832_R->H 351 chr8:145001031:T:C 13644_3965_1322_H->R 351 chr8:145007187:G:A 13644_1511_504_A->V 351 chr8:144996029:A:G 13644_7960_2654_S->P 351 chr8:145001588:C:T 13644_3746_1249_R->Q 351 snyder Variants: 351 chr8:144994888:G:A 13644_9101_3034_A->V 351 chr8:144995494:C:T 13644_8495_2832_R->H 351 chr8:145001031:T:C 13644_3965_1322_H->R 351 chr8:145007187:G:A 13644_1511_504_A->V 351 chr8:144996029:A:G 13644_7960_2654_S->P 351 chr8:145001588:C:T 13644_3746_1249_R->Q 352 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000398774 gene_Name: PLEC_HUMAN 352 list of pdbs: 352 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 352 3PE0 pdb_description: - - 352 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 352 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 352 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 352 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 352 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 352 Zimmer Variants: 352 chr8:144995494:C:T 13548_8399_2800_R->H 352 chr8:145001031:T:C 13548_3869_1290_H->R 352 chr8:145007187:G:A 13548_1415_472_A->V 352 chr8:144996029:A:G 13548_7864_2622_S->P 352 chr8:145001588:C:T 13548_3650_1217_R->Q 352 HGMD Variants: 352 chr8:144990692:T:A 13548_13201_4401_K->* 352 chr8:144991571:G:A 13548_12322_4108_R->* 352 chr8:144993086:G:A 13548_10807_3603_Q->* 352 chr8:144993614:G:A 13548_10279_3427_Q->* 352 chr8:144994985:G:A 13548_8908_2970_R->* 352 chr8:144996266:G:A 13548_7627_2543_Q->* 352 chr8:144996281:G:A 13548_7612_2538_Q->* 352 chr8:144996437:G:A 13548_7456_2486_Q->* 352 chr8:144996458:G:A 13548_7435_2479_Q->* 352 chr8:144996782:G:A 13548_7219_2407_Q->* 352 chr8:144996785:G:A 13548_7216_2406_R->* 352 chr8:144996917:G:A 13548_7084_2362_R->* 352 chr8:144997058:G:A 13548_6943_2315_Q->* 352 chr8:144997127:G:A 13548_6874_2292_R->* 352 chr8:144997223:G:A 13548_6778_2260_R->* 352 chr8:144997496:G:A 13548_6505_2169_Q->* 352 chr8:144997886:G:A 13548_6115_2039_Q->* 352 chr8:144998009:G:A 13548_5992_1998_Q->* 352 chr8:144998165:C:A 13548_5836_1946_E->* 352 chr8:144998372:G:A 13548_5629_1877_Q->* 352 chr8:144998408:G:A 13548_5593_1865_Q->* 352 chr8:144998450:G:A 13548_5551_1851_Q->* 352 chr8:144998768:C:A 13548_5233_1745_E->* 352 chr8:144999041:G:A 13548_4960_1654_Q->* 352 chr8:144999248:G:A 13548_4753_1585_Q->* 352 chr8:144999254:G:A 13548_4747_1583_Q->* 352 chr8:144999338:C:A 13548_4663_1555_E->* 352 chr8:144999626:G:A 13548_4375_1459_Q->* 352 chr8:144999830:G:A 13548_4171_1391_Q->* 352 chr8:144999917:G:A 13548_4084_1362_Q->* 352 chr8:144999956:G:A 13548_4045_1349_Q->* 352 chr8:145001850:G:A 13548_3388_1130_R->* 352 chr8:145003587:G:A 13548_2980_994_Q->* 352 chr8:145003680:G:A 13548_2887_963_Q->* 352 chr8:145009091:G:A 13548_736_246_Q->* 352 chr8:144992567:C:T 13548_11326_3776_G->S 352 chr8:144993491:G:A 13548_10402_3468_R->C 352 chr8:144995402:T:A 13548_8491_2831_T->S 352 chr8:144998180:G:A 13548_5821_1941_R->W 352 chr8:145009036:C:T 13548_791_264_R->Q 352 oneKG Variants: 352 chr8:145001174:G:A 13548_3820_1274_Q->* 0.000199681 352 chr8:144990353:C:T 13548_13540_4514_V->M 0.000599042 352 chr8:144990356:C:T 13548_13537_4513_A->T 0.000199681 352 chr8:144990365:G:A 13548_13528_4510_P->S 0.000199681 352 chr8:144990391:G:A 13548_13502_4501_S->L 0.000399361 352 chr8:144990400:C:T 13548_13493_4498_R->H 0.000199681 352 chr8:144990446:T:C 13548_13447_4483_M->V 0.000199681 352 chr8:144990461:C:T 13548_13432_4478_G->S 0.000199681 352 chr8:144990479:C:T 13548_13414_4472_G->S 0.000399361 352 chr8:144990482:G:A 13548_13411_4471_R->C 0.000199681 352 chr8:144990491:C:T 13548_13402_4468_G->S 0.000199681 352 chr8:144990587:C:T 13548_13306_4436_A->T 0.00399361 352 chr8:144990742:G:A 13548_13151_4384_T->M 0.000798722 352 chr8:144990746:C:T 13548_13147_4383_G->S 0.000199681 352 chr8:144990748:C:T 13548_13145_4382_R->H 0.000199681 352 chr8:144990749:G:A 13548_13144_4382_R->C 0.000399361 352 chr8:144990784:G:A 13548_13109_4370_T->M 0.0081869 352 chr8:144990795:G:C 13548_13098_4366_I->M 0.000199681 352 chr8:144990934:G:A 13548_12959_4320_A->V 0.000199681 352 chr8:144990989:C:T 13548_12904_4302_D->N 0.000199681 352 chr8:144991004:G:A 13548_12889_4297_R->C 0.000599042 352 chr8:144991082:C:T 13548_12811_4271_V->M 0.000199681 352 chr8:144991172:G:A 13548_12721_4241_P->S 0.00159744 352 chr8:144991205:C:T 13548_12688_4230_V->I 0.0115815 352 chr8:144991208:C:T 13548_12685_4229_A->T 0.000199681 352 chr8:144991271:C:T 13548_12622_4208_A->T 0.000399361 352 chr8:144991312:G:A 13548_12581_4194_T->M 0.000199681 352 chr8:144991318:G:C 13548_12575_4192_A->G 0.000199681 352 chr8:144991342:C:T 13548_12551_4184_R->H 0.000399361 352 chr8:144991361:C:T 13548_12532_4178_A->T 0.00199681 352 chr8:144991534:A:G 13548_12359_4120_M->T 0.000199681 352 chr8:144991559:C:T 13548_12334_4112_V->M 0.000199681 352 chr8:144991612:C:T 13548_12281_4094_R->Q 0.000798722 352 chr8:144991637:G:A 13548_12256_4086_L->F 0.000599042 352 chr8:144991648:G:A 13548_12245_4082_T->M 0.000199681 352 chr8:144991826:G:T 13548_12067_4023_P->T 0.000798722 352 chr8:144991925:G:A 13548_11968_3990_L->F 0.00279553 352 chr8:144991967:C:T 13548_11926_3976_E->K 0.000199681 352 chr8:144992004:A:C 13548_11889_3963_I->M 0.000199681 352 chr8:144992032:G:A 13548_11861_3954_T->M 0.000399361 352 chr8:144992104:G:A 13548_11789_3930_T->I 0.000199681 352 chr8:144992146:G:A 13548_11747_3916_S->L 0.000199681 352 chr8:144992161:G:T 13548_11732_3911_T->N 0.000599042 352 chr8:144992171:C:T 13548_11722_3908_V->M 0.000199681 352 chr8:144992237:T:C 13548_11656_3886_I->V 0.000199681 352 chr8:144992269:G:A 13548_11624_3875_T->M 0.0061901 352 chr8:144992276:C:T 13548_11617_3873_E->K 0.000199681 352 chr8:144992347:C:T 13548_11546_3849_R->H 0.000199681 352 chr8:144992348:G:A 13548_11545_3849_R->C 0.000199681 352 chr8:144992351:C:T 13548_11542_3848_A->T 0.000399361 352 chr8:144992378:C:T 13548_11515_3839_G->S 0.00199681 352 chr8:144992390:C:G 13548_11503_3835_D->H 0.0377396 352 chr8:144992395:C:T 13548_11498_3833_R->H 0.000199681 352 chr8:144992402:G:A 13548_11491_3831_R->W 0.000199681 352 chr8:144992432:C:T 13548_11461_3821_E->K 0.000199681 352 chr8:144992450:C:T 13548_11443_3815_V->M 0.000798722 352 chr8:144992465:C:T 13548_11428_3810_E->K 0.00139776 352 chr8:144992491:G:A 13548_11402_3801_T->M 0.000199681 352 chr8:144992546:C:G 13548_11347_3783_G->R 0.000798722 352 chr8:144992552:G:A 13548_11341_3781_R->C 0.000199681 352 chr8:144992723:C:T 13548_11170_3724_E->K 0.000199681 352 chr8:144992759:C:T 13548_11134_3712_V->M 0.000199681 352 chr8:144992774:C:G 13548_11119_3707_G->R 0.000599042 352 chr8:144992782:G:A 13548_11111_3704_P->L 0.000998403 352 chr8:144992852:C:T 13548_11041_3681_G->R 0.000399361 352 chr8:144992912:C:T 13548_10981_3661_A->T 0.000599042 352 chr8:144992953:G:A 13548_10940_3647_A->V 0.000998403 352 chr8:144992969:G:A 13548_10924_3642_R->C 0.000399361 352 chr8:144992989:C:A 13548_10904_3635_R->L 0.000399361 352 chr8:144992990:G:C 13548_10903_3635_R->G 0.000199681 352 chr8:144993029:C:T 13548_10864_3622_E->K 0.000599042 352 chr8:144993046:G:A 13548_10847_3616_T->M 0.000399361 352 chr8:144993052:C:T 13548_10841_3614_R->H 0.000399361 352 chr8:144993068:C:T 13548_10825_3609_D->N 0.000399361 352 chr8:144993119:C:T 13548_10774_3592_E->K 0.000399361 352 chr8:144993137:T:C 13548_10756_3586_M->V 0.000199681 352 chr8:144993155:G:A 13548_10738_3580_R->W 0.000199681 352 chr8:144993187:C:T 13548_10706_3569_R->Q 0.000199681 352 chr8:144993189:C:A 13548_10704_3568_Q->H 0.000199681 352 chr8:144993201:G:C 13548_10692_3564_I->M 0.000199681 352 chr8:144993325:G:A 13548_10568_3523_T->M 0.000199681 352 chr8:144993338:C:T 13548_10555_3519_V->M 0.000199681 352 chr8:144993352:G:A 13548_10541_3514_A->V 0.000199681 352 chr8:144993374:G:A 13548_10519_3507_R->C 0.000798722 352 chr8:144993382:G:A 13548_10511_3504_T->M 0.000199681 352 chr8:144993383:T:A 13548_10510_3504_T->S 0.000199681 352 chr8:144993424:G:A 13548_10469_3490_T->M 0.00139776 352 chr8:144993453:G:T 13548_10440_3480_F->L 0.000199681 352 chr8:144993491:G:A 13548_10402_3468_R->C 0.000399361 352 chr8:144993515:C:T 13548_10378_3460_G->S 0.000199681 352 chr8:144993517:C:T 13548_10376_3459_R->H 0.00139776 352 chr8:144993527:C:T 13548_10366_3456_A->T 0.000599042 352 chr8:144993530:C:T 13548_10363_3455_V->M 0.000599042 352 chr8:144993544:C:T 13548_10349_3450_R->H 0.000199681 352 chr8:144993601:C:T 13548_10292_3431_R->H 0.000199681 352 chr8:144993617:G:A 13548_10276_3426_R->W 0.000399361 352 chr8:144993686:C:T 13548_10207_3403_G->S 0.000199681 352 chr8:144993745:G:A 13548_10148_3383_A->V 0.000199681 352 chr8:144993782:G:A 13548_10111_3371_R->W 0.000199681 352 chr8:144993785:C:T 13548_10108_3370_V->M 0.000199681 352 chr8:144993830:G:A 13548_10063_3355_L->F 0.000199681 352 chr8:144993832:G:A 13548_10061_3354_A->V 0.000199681 352 chr8:144993859:C:T 13548_10034_3345_R->Q 0.000798722 352 chr8:144993917:C:T 13548_9976_3326_A->T 0.000199681 352 chr8:144993931:C:G 13548_9962_3321_G->A 0.00599042 352 chr8:144993940:A:G 13548_9953_3318_L->P 0.000599042 352 chr8:144993943:G:A 13548_9950_3317_T->M 0.0285543 352 chr8:144993946:C:T 13548_9947_3316_R->Q 0.000399361 352 chr8:144993964:G:A 13548_9929_3310_S->L 0.000199681 352 chr8:144994028:C:T 13548_9865_3289_G->R 0.00339457 352 chr8:144994060:G:A 13548_9833_3278_A->V 0.000199681 352 chr8:144994063:C:T 13548_9830_3277_R->H 0.00139776 352 chr8:144994064:G:A 13548_9829_3277_R->C 0.00219649 352 chr8:144994093:C:T 13548_9800_3267_R->Q 0.000199681 352 chr8:144994094:G:A 13548_9799_3267_R->W 0.00199681 352 chr8:144994148:C:T 13548_9745_3249_V->M 0.000399361 352 chr8:144994174:C:T 13548_9719_3240_R->H 0.000399361 352 chr8:144994189:C:T 13548_9704_3235_R->Q 0.000199681 352 chr8:144994271:C:T 13548_9622_3208_E->K 0.00259585 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chr8:145006590:G:A 13548_1859_620_T->I 0.00159744 352 chr8:145006606:G:A 13548_1843_615_R->C 0.000199681 352 chr8:145006644:T:C 13548_1805_602_E->G 0.000199681 352 chr8:145006832:G:C 13548_1690_564_R->G 0.000199681 352 chr8:145006847:G:A 13548_1675_559_R->C 0.000199681 352 chr8:145006858:C:T 13548_1664_555_R->Q 0.000199681 352 chr8:145006859:G:A 13548_1663_555_R->W 0.000199681 352 chr8:145006971:C:T 13548_1631_544_R->Q 0.000599042 352 chr8:145006972:G:A 13548_1630_544_R->W 0.000199681 352 chr8:145006992:C:T 13548_1610_537_R->Q 0.00658946 352 chr8:145006993:G:A 13548_1609_537_R->W 0.000399361 352 chr8:145007069:C:A 13548_1533_511_E->D 0.00459265 352 chr8:145007085:C:T 13548_1517_506_R->H 0.000199681 352 chr8:145007109:G:A 13548_1493_498_A->V 0.000399361 352 chr8:145007139:G:A 13548_1463_488_S->F 0.000199681 352 chr8:145007152:C:T 13548_1450_484_E->K 0.000199681 352 chr8:145007158:G:A 13548_1444_482_R->C 0.000199681 352 chr8:145007187:G:A 13548_1415_472_A->V 0.23143 352 chr8:145007212:C:T 13548_1390_464_V->M 0.000199681 352 chr8:145007244:C:A 13548_1358_453_R->L 0.000798722 352 chr8:145007260:G:A 13548_1342_448_R->C 0.000798722 352 chr8:145007368:C:T 13548_1319_440_R->H 0.000199681 352 chr8:145007369:G:A 13548_1318_440_R->C 0.000199681 352 chr8:145007396:G:A 13548_1291_431_R->W 0.000399361 352 chr8:145007464:C:T 13548_1223_408_R->Q 0.000199681 352 chr8:145007500:G:A 13548_1187_396_A->V 0.000798722 352 chr8:145007512:C:T 13548_1175_392_R->Q 0.000199681 352 chr8:145008202:C:G 13548_1131_377_E->D 0.000199681 352 chr8:145008497:G:C 13548_1062_354_S->R 0.000998403 352 chr8:145008532:C:T 13548_1027_343_V->M 0.000399361 352 chr8:145008592:G:A 13548_967_323_L->F 0.000199681 352 chr8:145008989:C:T 13548_838_280_E->K 0.000199681 352 chr8:145009022:C:T 13548_805_269_A->T 0.000399361 352 chr8:145009036:C:T 13548_791_264_R->Q 0.00399361 352 chr8:145009038:C:T 13548_789_263_M->I 0.000199681 352 chr8:145009069:C:T 13548_758_253_R->Q 0.00399361 352 chr8:145009070:G:A 13548_757_253_R->W 0.000199681 352 chr8:145009402:G:A 13548_586_196_R->W 0.000998403 352 chr8:145009424:G:C 13548_564_188_D->E 0.000399361 352 chr8:145009426:C:A 13548_562_188_D->Y 0.000199681 352 chr8:145009449:C:T 13548_539_180_R->Q 0.000199681 352 chr8:145009450:G:A 13548_538_180_R->W 0.000599042 352 chr8:145010067:G:A 13548_455_152_T->I 0.000199681 352 chr8:145012407:G:A 13548_80_27_A->V 0.000199681 352 chr8:145012801:T:C 13548_76_26_K->E 0.000399361 352 chr8:145018819:G:A 13548_13_5_P->S 0.000199681 352 na12878 Variants: 352 chr8:144995494:C:T 13548_8399_2800_R->H 352 chr8:145001031:T:C 13548_3869_1290_H->R 352 chr8:145007187:G:A 13548_1415_472_A->V 352 chr8:144996029:A:G 13548_7864_2622_S->P 352 chr8:145001588:C:T 13548_3650_1217_R->Q 352 snyder Variants: 352 chr8:144994888:G:A 13548_9005_3002_A->V 352 chr8:144995494:C:T 13548_8399_2800_R->H 352 chr8:145001031:T:C 13548_3869_1290_H->R 352 chr8:145007187:G:A 13548_1415_472_A->V 352 chr8:144996029:A:G 13548_7864_2622_S->P 352 chr8:145001588:C:T 13548_3650_1217_R->Q 353 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000322810 gene_Name: PLEC_HUMAN 353 list of pdbs: 353 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 353 3PE0 pdb_description: - - 353 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 353 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 353 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 353 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 353 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 353 Zimmer Variants: 353 chr8:144995494:C:T 14055_8906_2969_R->H 353 chr8:145001031:T:C 14055_4376_1459_H->R 353 chr8:145007187:G:A 14055_1922_641_A->V 353 chr8:144996029:A:G 14055_8371_2791_S->P 353 chr8:145001588:C:T 14055_4157_1386_R->Q 353 HGMD Variants: 353 chr8:144990692:T:A 14055_13708_4570_K->* 353 chr8:144991571:G:A 14055_12829_4277_R->* 353 chr8:144993086:G:A 14055_11314_3772_Q->* 353 chr8:144993614:G:A 14055_10786_3596_Q->* 353 chr8:144994985:G:A 14055_9415_3139_R->* 353 chr8:144996266:G:A 14055_8134_2712_Q->* 353 chr8:144996281:G:A 14055_8119_2707_Q->* 353 chr8:144996437:G:A 14055_7963_2655_Q->* 353 chr8:144996458:G:A 14055_7942_2648_Q->* 353 chr8:144996782:G:A 14055_7726_2576_Q->* 353 chr8:144996785:G:A 14055_7723_2575_R->* 353 chr8:144996917:G:A 14055_7591_2531_R->* 353 chr8:144997058:G:A 14055_7450_2484_Q->* 353 chr8:144997127:G:A 14055_7381_2461_R->* 353 chr8:144997223:G:A 14055_7285_2429_R->* 353 chr8:144997496:G:A 14055_7012_2338_Q->* 353 chr8:144997886:G:A 14055_6622_2208_Q->* 353 chr8:144998009:G:A 14055_6499_2167_Q->* 353 chr8:144998165:C:A 14055_6343_2115_E->* 353 chr8:144998372:G:A 14055_6136_2046_Q->* 353 chr8:144998408:G:A 14055_6100_2034_Q->* 353 chr8:144998450:G:A 14055_6058_2020_Q->* 353 chr8:144998768:C:A 14055_5740_1914_E->* 353 chr8:144999041:G:A 14055_5467_1823_Q->* 353 chr8:144999248:G:A 14055_5260_1754_Q->* 353 chr8:144999254:G:A 14055_5254_1752_Q->* 353 chr8:144999338:C:A 14055_5170_1724_E->* 353 chr8:144999626:G:A 14055_4882_1628_Q->* 353 chr8:144999830:G:A 14055_4678_1560_Q->* 353 chr8:144999917:G:A 14055_4591_1531_Q->* 353 chr8:144999956:G:A 14055_4552_1518_Q->* 353 chr8:145001850:G:A 14055_3895_1299_R->* 353 chr8:145003587:G:A 14055_3487_1163_Q->* 353 chr8:145003680:G:A 14055_3394_1132_Q->* 353 chr8:145009091:G:A 14055_1243_415_Q->* 353 chr8:144992567:C:T 14055_11833_3945_G->S 353 chr8:144993491:G:A 14055_10909_3637_R->C 353 chr8:144995402:T:A 14055_8998_3000_T->S 353 chr8:144998180:G:A 14055_6328_2110_R->W 353 chr8:145009036:C:T 14055_1298_433_R->Q 353 oneKG Variants: 353 chr8:145001174:G:A 14055_4327_1443_Q->* 0.000199681 353 chr8:144990353:C:T 14055_14047_4683_V->M 0.000599042 353 chr8:144990356:C:T 14055_14044_4682_A->T 0.000199681 353 chr8:144990365:G:A 14055_14035_4679_P->S 0.000199681 353 chr8:144990391:G:A 14055_14009_4670_S->L 0.000399361 353 chr8:144990400:C:T 14055_14000_4667_R->H 0.000199681 353 chr8:144990446:T:C 14055_13954_4652_M->V 0.000199681 353 chr8:144990461:C:T 14055_13939_4647_G->S 0.000199681 353 chr8:144990479:C:T 14055_13921_4641_G->S 0.000399361 353 chr8:144990482:G:A 14055_13918_4640_R->C 0.000199681 353 chr8:144990491:C:T 14055_13909_4637_G->S 0.000199681 353 chr8:144990587:C:T 14055_13813_4605_A->T 0.00399361 353 chr8:144990742:G:A 14055_13658_4553_T->M 0.000798722 353 chr8:144990746:C:T 14055_13654_4552_G->S 0.000199681 353 chr8:144990748:C:T 14055_13652_4551_R->H 0.000199681 353 chr8:144990749:G:A 14055_13651_4551_R->C 0.000399361 353 chr8:144990784:G:A 14055_13616_4539_T->M 0.0081869 353 chr8:144990795:G:C 14055_13605_4535_I->M 0.000199681 353 chr8:144990934:G:A 14055_13466_4489_A->V 0.000199681 353 chr8:144990989:C:T 14055_13411_4471_D->N 0.000199681 353 chr8:144991004:G:A 14055_13396_4466_R->C 0.000599042 353 chr8:144991082:C:T 14055_13318_4440_V->M 0.000199681 353 chr8:144991172:G:A 14055_13228_4410_P->S 0.00159744 353 chr8:144991205:C:T 14055_13195_4399_V->I 0.0115815 353 chr8:144991208:C:T 14055_13192_4398_A->T 0.000199681 353 chr8:144991271:C:T 14055_13129_4377_A->T 0.000399361 353 chr8:144991312:G:A 14055_13088_4363_T->M 0.000199681 353 chr8:144991318:G:C 14055_13082_4361_A->G 0.000199681 353 chr8:144991342:C:T 14055_13058_4353_R->H 0.000399361 353 chr8:144991361:C:T 14055_13039_4347_A->T 0.00199681 353 chr8:144991534:A:G 14055_12866_4289_M->T 0.000199681 353 chr8:144991559:C:T 14055_12841_4281_V->M 0.000199681 353 chr8:144991612:C:T 14055_12788_4263_R->Q 0.000798722 353 chr8:144991637:G:A 14055_12763_4255_L->F 0.000599042 353 chr8:144991648:G:A 14055_12752_4251_T->M 0.000199681 353 chr8:144991826:G:T 14055_12574_4192_P->T 0.000798722 353 chr8:144991925:G:A 14055_12475_4159_L->F 0.00279553 353 chr8:144991967:C:T 14055_12433_4145_E->K 0.000199681 353 chr8:144992004:A:C 14055_12396_4132_I->M 0.000199681 353 chr8:144992032:G:A 14055_12368_4123_T->M 0.000399361 353 chr8:144992104:G:A 14055_12296_4099_T->I 0.000199681 353 chr8:144992146:G:A 14055_12254_4085_S->L 0.000199681 353 chr8:144992161:G:T 14055_12239_4080_T->N 0.000599042 353 chr8:144992171:C:T 14055_12229_4077_V->M 0.000199681 353 chr8:144992237:T:C 14055_12163_4055_I->V 0.000199681 353 chr8:144992269:G:A 14055_12131_4044_T->M 0.0061901 353 chr8:144992276:C:T 14055_12124_4042_E->K 0.000199681 353 chr8:144992347:C:T 14055_12053_4018_R->H 0.000199681 353 chr8:144992348:G:A 14055_12052_4018_R->C 0.000199681 353 chr8:144992351:C:T 14055_12049_4017_A->T 0.000399361 353 chr8:144992378:C:T 14055_12022_4008_G->S 0.00199681 353 chr8:144992390:C:G 14055_12010_4004_D->H 0.0377396 353 chr8:144992395:C:T 14055_12005_4002_R->H 0.000199681 353 chr8:144992402:G:A 14055_11998_4000_R->W 0.000199681 353 chr8:144992432:C:T 14055_11968_3990_E->K 0.000199681 353 chr8:144992450:C:T 14055_11950_3984_V->M 0.000798722 353 chr8:144992465:C:T 14055_11935_3979_E->K 0.00139776 353 chr8:144992491:G:A 14055_11909_3970_T->M 0.000199681 353 chr8:144992546:C:G 14055_11854_3952_G->R 0.000798722 353 chr8:144992552:G:A 14055_11848_3950_R->C 0.000199681 353 chr8:144992723:C:T 14055_11677_3893_E->K 0.000199681 353 chr8:144992759:C:T 14055_11641_3881_V->M 0.000199681 353 chr8:144992774:C:G 14055_11626_3876_G->R 0.000599042 353 chr8:144992782:G:A 14055_11618_3873_P->L 0.000998403 353 chr8:144992852:C:T 14055_11548_3850_G->R 0.000399361 353 chr8:144992912:C:T 14055_11488_3830_A->T 0.000599042 353 chr8:144992953:G:A 14055_11447_3816_A->V 0.000998403 353 chr8:144992969:G:A 14055_11431_3811_R->C 0.000399361 353 chr8:144992989:C:A 14055_11411_3804_R->L 0.000399361 353 chr8:144992990:G:C 14055_11410_3804_R->G 0.000199681 353 chr8:144993029:C:T 14055_11371_3791_E->K 0.000599042 353 chr8:144993046:G:A 14055_11354_3785_T->M 0.000399361 353 chr8:144993052:C:T 14055_11348_3783_R->H 0.000399361 353 chr8:144993068:C:T 14055_11332_3778_D->N 0.000399361 353 chr8:144993119:C:T 14055_11281_3761_E->K 0.000399361 353 chr8:144993137:T:C 14055_11263_3755_M->V 0.000199681 353 chr8:144993155:G:A 14055_11245_3749_R->W 0.000199681 353 chr8:144993187:C:T 14055_11213_3738_R->Q 0.000199681 353 chr8:144993189:C:A 14055_11211_3737_Q->H 0.000199681 353 chr8:144993201:G:C 14055_11199_3733_I->M 0.000199681 353 chr8:144993325:G:A 14055_11075_3692_T->M 0.000199681 353 chr8:144993338:C:T 14055_11062_3688_V->M 0.000199681 353 chr8:144993352:G:A 14055_11048_3683_A->V 0.000199681 353 chr8:144993374:G:A 14055_11026_3676_R->C 0.000798722 353 chr8:144993382:G:A 14055_11018_3673_T->M 0.000199681 353 chr8:144993383:T:A 14055_11017_3673_T->S 0.000199681 353 chr8:144993424:G:A 14055_10976_3659_T->M 0.00139776 353 chr8:144993453:G:T 14055_10947_3649_F->L 0.000199681 353 chr8:144993491:G:A 14055_10909_3637_R->C 0.000399361 353 chr8:144993515:C:T 14055_10885_3629_G->S 0.000199681 353 chr8:144993517:C:T 14055_10883_3628_R->H 0.00139776 353 chr8:144993527:C:T 14055_10873_3625_A->T 0.000599042 353 chr8:144993530:C:T 14055_10870_3624_V->M 0.000599042 353 chr8:144993544:C:T 14055_10856_3619_R->H 0.000199681 353 chr8:144993601:C:T 14055_10799_3600_R->H 0.000199681 353 chr8:144993617:G:A 14055_10783_3595_R->W 0.000399361 353 chr8:144993686:C:T 14055_10714_3572_G->S 0.000199681 353 chr8:144993745:G:A 14055_10655_3552_A->V 0.000199681 353 chr8:144993782:G:A 14055_10618_3540_R->W 0.000199681 353 chr8:144993785:C:T 14055_10615_3539_V->M 0.000199681 353 chr8:144993830:G:A 14055_10570_3524_L->F 0.000199681 353 chr8:144993832:G:A 14055_10568_3523_A->V 0.000199681 353 chr8:144993859:C:T 14055_10541_3514_R->Q 0.000798722 353 chr8:144993917:C:T 14055_10483_3495_A->T 0.000199681 353 chr8:144993931:C:G 14055_10469_3490_G->A 0.00599042 353 chr8:144993940:A:G 14055_10460_3487_L->P 0.000599042 353 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14055_2821_941_R->W 0.000599042 353 chr8:145004638:C:T 14055_2782_928_V->I 0.000199681 353 chr8:145004701:C:T 14055_2719_907_E->K 0.000599042 353 chr8:145005743:C:T 14055_2674_892_A->T 0.000399361 353 chr8:145005769:C:T 14055_2648_883_R->H 0.000599042 353 chr8:145005792:C:A 14055_2625_875_L->F 0.000199681 353 chr8:145005811:C:T 14055_2606_869_R->Q 0.000199681 353 chr8:145006143:T:C 14055_2551_851_I->V 0.00139776 353 chr8:145006145:C:G 14055_2549_850_C->S 0.000399361 353 chr8:145006187:G:A 14055_2507_836_A->V 0.000199681 353 chr8:145006317:G:A 14055_2474_825_P->L 0.000599042 353 chr8:145006338:C:T 14055_2453_818_R->Q 0.000199681 353 chr8:145006569:G:A 14055_2387_796_S->L 0.000199681 353 chr8:145006576:T:A 14055_2380_794_S->C 0.00119808 353 chr8:145006590:G:A 14055_2366_789_T->I 0.00159744 353 chr8:145006606:G:A 14055_2350_784_R->C 0.000199681 353 chr8:145006644:T:C 14055_2312_771_E->G 0.000199681 353 chr8:145006832:G:C 14055_2197_733_R->G 0.000199681 353 chr8:145006847:G:A 14055_2182_728_R->C 0.000199681 353 chr8:145006858:C:T 14055_2171_724_R->Q 0.000199681 353 chr8:145006859:G:A 14055_2170_724_R->W 0.000199681 353 chr8:145006971:C:T 14055_2138_713_R->Q 0.000599042 353 chr8:145006972:G:A 14055_2137_713_R->W 0.000199681 353 chr8:145006992:C:T 14055_2117_706_R->Q 0.00658946 353 chr8:145006993:G:A 14055_2116_706_R->W 0.000399361 353 chr8:145007069:C:A 14055_2040_680_E->D 0.00459265 353 chr8:145007085:C:T 14055_2024_675_R->H 0.000199681 353 chr8:145007109:G:A 14055_2000_667_A->V 0.000399361 353 chr8:145007139:G:A 14055_1970_657_S->F 0.000199681 353 chr8:145007152:C:T 14055_1957_653_E->K 0.000199681 353 chr8:145007158:G:A 14055_1951_651_R->C 0.000199681 353 chr8:145007187:G:A 14055_1922_641_A->V 0.23143 353 chr8:145007212:C:T 14055_1897_633_V->M 0.000199681 353 chr8:145007244:C:A 14055_1865_622_R->L 0.000798722 353 chr8:145007260:G:A 14055_1849_617_R->C 0.000798722 353 chr8:145007368:C:T 14055_1826_609_R->H 0.000199681 353 chr8:145007369:G:A 14055_1825_609_R->C 0.000199681 353 chr8:145007396:G:A 14055_1798_600_R->W 0.000399361 353 chr8:145007464:C:T 14055_1730_577_R->Q 0.000199681 353 chr8:145007500:G:A 14055_1694_565_A->V 0.000798722 353 chr8:145007512:C:T 14055_1682_561_R->Q 0.000199681 353 chr8:145008202:C:G 14055_1638_546_E->D 0.000199681 353 chr8:145008497:G:C 14055_1569_523_S->R 0.000998403 353 chr8:145008532:C:T 14055_1534_512_V->M 0.000399361 353 chr8:145008592:G:A 14055_1474_492_L->F 0.000199681 353 chr8:145008989:C:T 14055_1345_449_E->K 0.000199681 353 chr8:145009022:C:T 14055_1312_438_A->T 0.000399361 353 chr8:145009036:C:T 14055_1298_433_R->Q 0.00399361 353 chr8:145009038:C:T 14055_1296_432_M->I 0.000199681 353 chr8:145009069:C:T 14055_1265_422_R->Q 0.00399361 353 chr8:145009070:G:A 14055_1264_422_R->W 0.000199681 353 chr8:145009402:G:A 14055_1093_365_R->W 0.000998403 353 chr8:145009424:G:C 14055_1071_357_D->E 0.000399361 353 chr8:145009426:C:A 14055_1069_357_D->Y 0.000199681 353 chr8:145009449:C:T 14055_1046_349_R->Q 0.000199681 353 chr8:145009450:G:A 14055_1045_349_R->W 0.000599042 353 chr8:145010067:G:A 14055_962_321_T->I 0.000199681 353 chr8:145012407:G:A 14055_587_196_A->V 0.000199681 353 chr8:145012801:T:C 14055_583_195_K->E 0.000399361 353 chr8:145024367:G:C 14055_508_170_P->A 0.000199681 353 chr8:145024372:G:A 14055_503_168_P->L 0.0081869 353 chr8:145024432:A:T 14055_443_148_V->E 0.000399361 353 chr8:145024459:A:G 14055_416_139_V->A 0.000798722 353 chr8:145024477:G:A 14055_398_133_P->L 0.000199681 353 chr8:145024483:G:A 14055_392_131_P->L 0.000199681 353 chr8:145024520:C:G 14055_355_119_V->L 0.000399361 353 chr8:145024571:G:A 14055_304_102_R->C 0.000599042 353 chr8:145024591:G:A 14055_284_95_A->V 0.000199681 353 chr8:145024628:G:A 14055_247_83_R->C 0.000199681 353 chr8:145024631:G:A 14055_244_82_L->F 0.0 353 chr8:145024709:G:C 14055_166_56_R->G 0.000399361 353 chr8:145024726:C:T 14055_149_50_R->H 0.000798722 353 chr8:145024756:A:G 14055_119_40_V->A 0.000199681 353 chr8:145024783:C:T 14055_92_31_R->Q 0.000199681 353 chr8:145024784:G:A 14055_91_31_R->W 0.000798722 353 chr8:145024786:T:A 14055_89_30_D->V 0.000199681 353 chr8:145024793:T:G 14055_82_28_K->Q 0.000199681 353 chr8:145024808:C:T 14055_67_23_G->S 0.000199681 353 chr8:145024838:G:A 14055_37_13_R->W 0.000399361 353 chr8:145024845:G:C 14055_30_10_D->E 0.000399361 353 chr8:145024850:G:A 14055_25_9_R->W 0.000399361 353 na12878 Variants: 353 chr8:144995494:C:T 14055_8906_2969_R->H 353 chr8:145001031:T:C 14055_4376_1459_H->R 353 chr8:145007187:G:A 14055_1922_641_A->V 353 chr8:144996029:A:G 14055_8371_2791_S->P 353 chr8:145001588:C:T 14055_4157_1386_R->Q 353 snyder Variants: 353 chr8:144994888:G:A 14055_9512_3171_A->V 353 chr8:144995494:C:T 14055_8906_2969_R->H 353 chr8:145001031:T:C 14055_4376_1459_H->R 353 chr8:145007187:G:A 14055_1922_641_A->V 353 chr8:144996029:A:G 14055_8371_2791_S->P 353 chr8:145001588:C:T 14055_4157_1386_R->Q 354 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000354958 gene_Name: PLEC_HUMAN 354 list of pdbs: 354 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 354 3PE0 pdb_description: - - 354 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 354 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 354 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 354 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 354 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 354 Zimmer Variants: 354 chr8:144995494:C:T 13578_8429_2810_R->H 354 chr8:145001031:T:C 13578_3899_1300_H->R 354 chr8:145007187:G:A 13578_1445_482_A->V 354 chr8:144996029:A:G 13578_7894_2632_S->P 354 chr8:145001588:C:T 13578_3680_1227_R->Q 354 HGMD Variants: 354 chr8:144990692:T:A 13578_13231_4411_K->* 354 chr8:144991571:G:A 13578_12352_4118_R->* 354 chr8:144993086:G:A 13578_10837_3613_Q->* 354 chr8:144993614:G:A 13578_10309_3437_Q->* 354 chr8:144994985:G:A 13578_8938_2980_R->* 354 chr8:144996266:G:A 13578_7657_2553_Q->* 354 chr8:144996281:G:A 13578_7642_2548_Q->* 354 chr8:144996437:G:A 13578_7486_2496_Q->* 354 chr8:144996458:G:A 13578_7465_2489_Q->* 354 chr8:144996782:G:A 13578_7249_2417_Q->* 354 chr8:144996785:G:A 13578_7246_2416_R->* 354 chr8:144996917:G:A 13578_7114_2372_R->* 354 chr8:144997058:G:A 13578_6973_2325_Q->* 354 chr8:144997127:G:A 13578_6904_2302_R->* 354 chr8:144997223:G:A 13578_6808_2270_R->* 354 chr8:144997496:G:A 13578_6535_2179_Q->* 354 chr8:144997886:G:A 13578_6145_2049_Q->* 354 chr8:144998009:G:A 13578_6022_2008_Q->* 354 chr8:144998165:C:A 13578_5866_1956_E->* 354 chr8:144998372:G:A 13578_5659_1887_Q->* 354 chr8:144998408:G:A 13578_5623_1875_Q->* 354 chr8:144998450:G:A 13578_5581_1861_Q->* 354 chr8:144998768:C:A 13578_5263_1755_E->* 354 chr8:144999041:G:A 13578_4990_1664_Q->* 354 chr8:144999248:G:A 13578_4783_1595_Q->* 354 chr8:144999254:G:A 13578_4777_1593_Q->* 354 chr8:144999338:C:A 13578_4693_1565_E->* 354 chr8:144999626:G:A 13578_4405_1469_Q->* 354 chr8:144999830:G:A 13578_4201_1401_Q->* 354 chr8:144999917:G:A 13578_4114_1372_Q->* 354 chr8:144999956:G:A 13578_4075_1359_Q->* 354 chr8:145001850:G:A 13578_3418_1140_R->* 354 chr8:145003587:G:A 13578_3010_1004_Q->* 354 chr8:145003680:G:A 13578_2917_973_Q->* 354 chr8:145009091:G:A 13578_766_256_Q->* 354 chr8:144992567:C:T 13578_11356_3786_G->S 354 chr8:144993491:G:A 13578_10432_3478_R->C 354 chr8:144995402:T:A 13578_8521_2841_T->S 354 chr8:144998180:G:A 13578_5851_1951_R->W 354 chr8:145009036:C:T 13578_821_274_R->Q 354 oneKG Variants: 354 chr8:145001174:G:A 13578_3850_1284_Q->* 0.000199681 354 chr8:144990353:C:T 13578_13570_4524_V->M 0.000599042 354 chr8:144990356:C:T 13578_13567_4523_A->T 0.000199681 354 chr8:144990365:G:A 13578_13558_4520_P->S 0.000199681 354 chr8:144990391:G:A 13578_13532_4511_S->L 0.000399361 354 chr8:144990400:C:T 13578_13523_4508_R->H 0.000199681 354 chr8:144990446:T:C 13578_13477_4493_M->V 0.000199681 354 chr8:144990461:C:T 13578_13462_4488_G->S 0.000199681 354 chr8:144990479:C:T 13578_13444_4482_G->S 0.000399361 354 chr8:144990482:G:A 13578_13441_4481_R->C 0.000199681 354 chr8:144990491:C:T 13578_13432_4478_G->S 0.000199681 354 chr8:144990587:C:T 13578_13336_4446_A->T 0.00399361 354 chr8:144990742:G:A 13578_13181_4394_T->M 0.000798722 354 chr8:144990746:C:T 13578_13177_4393_G->S 0.000199681 354 chr8:144990748:C:T 13578_13175_4392_R->H 0.000199681 354 chr8:144990749:G:A 13578_13174_4392_R->C 0.000399361 354 chr8:144990784:G:A 13578_13139_4380_T->M 0.0081869 354 chr8:144990795:G:C 13578_13128_4376_I->M 0.000199681 354 chr8:144990934:G:A 13578_12989_4330_A->V 0.000199681 354 chr8:144990989:C:T 13578_12934_4312_D->N 0.000199681 354 chr8:144991004:G:A 13578_12919_4307_R->C 0.000599042 354 chr8:144991082:C:T 13578_12841_4281_V->M 0.000199681 354 chr8:144991172:G:A 13578_12751_4251_P->S 0.00159744 354 chr8:144991205:C:T 13578_12718_4240_V->I 0.0115815 354 chr8:144991208:C:T 13578_12715_4239_A->T 0.000199681 354 chr8:144991271:C:T 13578_12652_4218_A->T 0.000399361 354 chr8:144991312:G:A 13578_12611_4204_T->M 0.000199681 354 chr8:144991318:G:C 13578_12605_4202_A->G 0.000199681 354 chr8:144991342:C:T 13578_12581_4194_R->H 0.000399361 354 chr8:144991361:C:T 13578_12562_4188_A->T 0.00199681 354 chr8:144991534:A:G 13578_12389_4130_M->T 0.000199681 354 chr8:144991559:C:T 13578_12364_4122_V->M 0.000199681 354 chr8:144991612:C:T 13578_12311_4104_R->Q 0.000798722 354 chr8:144991637:G:A 13578_12286_4096_L->F 0.000599042 354 chr8:144991648:G:A 13578_12275_4092_T->M 0.000199681 354 chr8:144991826:G:T 13578_12097_4033_P->T 0.000798722 354 chr8:144991925:G:A 13578_11998_4000_L->F 0.00279553 354 chr8:144991967:C:T 13578_11956_3986_E->K 0.000199681 354 chr8:144992004:A:C 13578_11919_3973_I->M 0.000199681 354 chr8:144992032:G:A 13578_11891_3964_T->M 0.000399361 354 chr8:144992104:G:A 13578_11819_3940_T->I 0.000199681 354 chr8:144992146:G:A 13578_11777_3926_S->L 0.000199681 354 chr8:144992161:G:T 13578_11762_3921_T->N 0.000599042 354 chr8:144992171:C:T 13578_11752_3918_V->M 0.000199681 354 chr8:144992237:T:C 13578_11686_3896_I->V 0.000199681 354 chr8:144992269:G:A 13578_11654_3885_T->M 0.0061901 354 chr8:144992276:C:T 13578_11647_3883_E->K 0.000199681 354 chr8:144992347:C:T 13578_11576_3859_R->H 0.000199681 354 chr8:144992348:G:A 13578_11575_3859_R->C 0.000199681 354 chr8:144992351:C:T 13578_11572_3858_A->T 0.000399361 354 chr8:144992378:C:T 13578_11545_3849_G->S 0.00199681 354 chr8:144992390:C:G 13578_11533_3845_D->H 0.0377396 354 chr8:144992395:C:T 13578_11528_3843_R->H 0.000199681 354 chr8:144992402:G:A 13578_11521_3841_R->W 0.000199681 354 chr8:144992432:C:T 13578_11491_3831_E->K 0.000199681 354 chr8:144992450:C:T 13578_11473_3825_V->M 0.000798722 354 chr8:144992465:C:T 13578_11458_3820_E->K 0.00139776 354 chr8:144992491:G:A 13578_11432_3811_T->M 0.000199681 354 chr8:144992546:C:G 13578_11377_3793_G->R 0.000798722 354 chr8:144992552:G:A 13578_11371_3791_R->C 0.000199681 354 chr8:144992723:C:T 13578_11200_3734_E->K 0.000199681 354 chr8:144992759:C:T 13578_11164_3722_V->M 0.000199681 354 chr8:144992774:C:G 13578_11149_3717_G->R 0.000599042 354 chr8:144992782:G:A 13578_11141_3714_P->L 0.000998403 354 chr8:144992852:C:T 13578_11071_3691_G->R 0.000399361 354 chr8:144992912:C:T 13578_11011_3671_A->T 0.000599042 354 chr8:144992953:G:A 13578_10970_3657_A->V 0.000998403 354 chr8:144992969:G:A 13578_10954_3652_R->C 0.000399361 354 chr8:144992989:C:A 13578_10934_3645_R->L 0.000399361 354 chr8:144992990:G:C 13578_10933_3645_R->G 0.000199681 354 chr8:144993029:C:T 13578_10894_3632_E->K 0.000599042 354 chr8:144993046:G:A 13578_10877_3626_T->M 0.000399361 354 chr8:144993052:C:T 13578_10871_3624_R->H 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0.000399361 354 chr8:145002132:C:T 13578_3223_1075_G->S 0.000399361 354 chr8:145002135:G:A 13578_3220_1074_R->C 0.000599042 354 chr8:145003295:C:T 13578_3170_1057_S->N 0.000199681 354 chr8:145003304:T:C 13578_3161_1054_Q->R 0.000599042 354 chr8:145003308:C:T 13578_3157_1053_E->K 0.000199681 354 chr8:145003323:T:C 13578_3142_1048_T->A 0.000599042 354 chr8:145003340:C:T 13578_3125_1042_R->H 0.00159744 354 chr8:145003355:G:A 13578_3110_1037_A->V 0.000199681 354 chr8:145003359:G:A 13578_3106_1036_P->S 0.000199681 354 chr8:145003406:C:T 13578_3059_1020_R->Q 0.000399361 354 chr8:145003590:C:T 13578_3007_1003_E->K 0.00119808 354 chr8:145003593:C:T 13578_3004_1002_A->T 0.000199681 354 chr8:145003646:C:T 13578_2951_984_R->H 0.000199681 354 chr8:145003647:G:A 13578_2950_984_R->C 0.000199681 354 chr8:145003655:G:C 13578_2942_981_T->S 0.000199681 354 chr8:145003667:C:T 13578_2930_977_C->Y 0.000199681 354 chr8:145003671:C:T 13578_2926_976_A->T 0.000199681 354 chr8:145003685:C:T 13578_2912_971_R->Q 0.00139776 354 chr8:145003701:C:G 13578_2896_966_E->Q 0.000399361 354 chr8:145003894:G:C 13578_2777_926_P->R 0.000199681 354 chr8:145003909:G:A 13578_2762_921_A->V 0.000199681 354 chr8:145003924:C:T 13578_2747_916_R->Q 0.000199681 354 chr8:145004124:G:A 13578_2653_885_R->C 0.000199681 354 chr8:145004139:C:T 13578_2638_880_D->N 0.000998403 354 chr8:145004144:C:T 13578_2633_878_R->H 0.000399361 354 chr8:145004201:G:A 13578_2576_859_T->M 0.000998403 354 chr8:145004373:C:T 13578_2485_829_V->M 0.00179712 354 chr8:145004376:C:T 13578_2482_828_A->T 0.0357428 354 chr8:145004388:C:T 13578_2470_824_G->S 0.00139776 354 chr8:145004447:T:C 13578_2411_804_D->G 0.000399361 354 chr8:145004574:A:G 13578_2369_790_V->A 0.000199681 354 chr8:145004575:C:G 13578_2368_790_V->L 0.000399361 354 chr8:145004586:G:A 13578_2357_786_P->L 0.000199681 354 chr8:145004599:G:A,T 13578_2344_782_R->W 0.000599042 354 chr8:145004638:C:T 13578_2305_769_V->I 0.000199681 354 chr8:145004701:C:T 13578_2242_748_E->K 0.000599042 354 chr8:145005743:C:T 13578_2197_733_A->T 0.000399361 354 chr8:145005769:C:T 13578_2171_724_R->H 0.000599042 354 chr8:145005792:C:A 13578_2148_716_L->F 0.000199681 354 chr8:145005811:C:T 13578_2129_710_R->Q 0.000199681 354 chr8:145006143:T:C 13578_2074_692_I->V 0.00139776 354 chr8:145006145:C:G 13578_2072_691_C->S 0.000399361 354 chr8:145006187:G:A 13578_2030_677_A->V 0.000199681 354 chr8:145006317:G:A 13578_1997_666_P->L 0.000599042 354 chr8:145006338:C:T 13578_1976_659_R->Q 0.000199681 354 chr8:145006569:G:A 13578_1910_637_S->L 0.000199681 354 chr8:145006576:T:A 13578_1903_635_S->C 0.00119808 354 chr8:145006590:G:A 13578_1889_630_T->I 0.00159744 354 chr8:145006606:G:A 13578_1873_625_R->C 0.000199681 354 chr8:145006644:T:C 13578_1835_612_E->G 0.000199681 354 chr8:145006832:G:C 13578_1720_574_R->G 0.000199681 354 chr8:145006847:G:A 13578_1705_569_R->C 0.000199681 354 chr8:145006858:C:T 13578_1694_565_R->Q 0.000199681 354 chr8:145006859:G:A 13578_1693_565_R->W 0.000199681 354 chr8:145006971:C:T 13578_1661_554_R->Q 0.000599042 354 chr8:145006972:G:A 13578_1660_554_R->W 0.000199681 354 chr8:145006992:C:T 13578_1640_547_R->Q 0.00658946 354 chr8:145006993:G:A 13578_1639_547_R->W 0.000399361 354 chr8:145007069:C:A 13578_1563_521_E->D 0.00459265 354 chr8:145007085:C:T 13578_1547_516_R->H 0.000199681 354 chr8:145007109:G:A 13578_1523_508_A->V 0.000399361 354 chr8:145007139:G:A 13578_1493_498_S->F 0.000199681 354 chr8:145007152:C:T 13578_1480_494_E->K 0.000199681 354 chr8:145007158:G:A 13578_1474_492_R->C 0.000199681 354 chr8:145007187:G:A 13578_1445_482_A->V 0.23143 354 chr8:145007212:C:T 13578_1420_474_V->M 0.000199681 354 chr8:145007244:C:A 13578_1388_463_R->L 0.000798722 354 chr8:145007260:G:A 13578_1372_458_R->C 0.000798722 354 chr8:145007368:C:T 13578_1349_450_R->H 0.000199681 354 chr8:145007369:G:A 13578_1348_450_R->C 0.000199681 354 chr8:145007396:G:A 13578_1321_441_R->W 0.000399361 354 chr8:145007464:C:T 13578_1253_418_R->Q 0.000199681 354 chr8:145007500:G:A 13578_1217_406_A->V 0.000798722 354 chr8:145007512:C:T 13578_1205_402_R->Q 0.000199681 354 chr8:145008202:C:G 13578_1161_387_E->D 0.000199681 354 chr8:145008497:G:C 13578_1092_364_S->R 0.000998403 354 chr8:145008532:C:T 13578_1057_353_V->M 0.000399361 354 chr8:145008592:G:A 13578_997_333_L->F 0.000199681 354 chr8:145008989:C:T 13578_868_290_E->K 0.000199681 354 chr8:145009022:C:T 13578_835_279_A->T 0.000399361 354 chr8:145009036:C:T 13578_821_274_R->Q 0.00399361 354 chr8:145009038:C:T 13578_819_273_M->I 0.000199681 354 chr8:145009069:C:T 13578_788_263_R->Q 0.00399361 354 chr8:145009070:G:A 13578_787_263_R->W 0.000199681 354 chr8:145009402:G:A 13578_616_206_R->W 0.000998403 354 chr8:145009424:G:C 13578_594_198_D->E 0.000399361 354 chr8:145009426:C:A 13578_592_198_D->Y 0.000199681 354 chr8:145009449:C:T 13578_569_190_R->Q 0.000199681 354 chr8:145009450:G:A 13578_568_190_R->W 0.000599042 354 chr8:145010067:G:A 13578_485_162_T->I 0.000199681 354 chr8:145012407:G:A 13578_110_37_A->V 0.000199681 354 chr8:145012801:T:C 13578_106_36_K->E 0.000399361 354 chr8:145027894:C:A 13578_46_16_D->Y 0.000199681 354 na12878 Variants: 354 chr8:144995494:C:T 13578_8429_2810_R->H 354 chr8:145001031:T:C 13578_3899_1300_H->R 354 chr8:145007187:G:A 13578_1445_482_A->V 354 chr8:144996029:A:G 13578_7894_2632_S->P 354 chr8:145001588:C:T 13578_3680_1227_R->Q 354 snyder Variants: 354 chr8:144994888:G:A 13578_9035_3012_A->V 354 chr8:144995494:C:T 13578_8429_2810_R->H 354 chr8:145001031:T:C 13578_3899_1300_H->R 354 chr8:145007187:G:A 13578_1445_482_A->V 354 chr8:144996029:A:G 13578_7894_2632_S->P 354 chr8:145001588:C:T 13578_3680_1227_R->Q 355 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000356346 gene_Name: PLEC_HUMAN 355 list of pdbs: 355 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 355 3PE0 pdb_description: - - 355 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 355 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 355 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 355 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 355 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 355 Zimmer Variants: 355 chr8:144995494:C:T 13602_8453_2818_R->H 355 chr8:145001031:T:C 13602_3923_1308_H->R 355 chr8:145007187:G:A 13602_1469_490_A->V 355 chr8:144996029:A:G 13602_7918_2640_S->P 355 chr8:145001588:C:T 13602_3704_1235_R->Q 355 HGMD Variants: 355 chr8:144990692:T:A 13602_13255_4419_K->* 355 chr8:144991571:G:A 13602_12376_4126_R->* 355 chr8:144993086:G:A 13602_10861_3621_Q->* 355 chr8:144993614:G:A 13602_10333_3445_Q->* 355 chr8:144994985:G:A 13602_8962_2988_R->* 355 chr8:144996266:G:A 13602_7681_2561_Q->* 355 chr8:144996281:G:A 13602_7666_2556_Q->* 355 chr8:144996437:G:A 13602_7510_2504_Q->* 355 chr8:144996458:G:A 13602_7489_2497_Q->* 355 chr8:144996782:G:A 13602_7273_2425_Q->* 355 chr8:144996785:G:A 13602_7270_2424_R->* 355 chr8:144996917:G:A 13602_7138_2380_R->* 355 chr8:144997058:G:A 13602_6997_2333_Q->* 355 chr8:144997127:G:A 13602_6928_2310_R->* 355 chr8:144997223:G:A 13602_6832_2278_R->* 355 chr8:144997496:G:A 13602_6559_2187_Q->* 355 chr8:144997886:G:A 13602_6169_2057_Q->* 355 chr8:144998009:G:A 13602_6046_2016_Q->* 355 chr8:144998165:C:A 13602_5890_1964_E->* 355 chr8:144998372:G:A 13602_5683_1895_Q->* 355 chr8:144998408:G:A 13602_5647_1883_Q->* 355 chr8:144998450:G:A 13602_5605_1869_Q->* 355 chr8:144998768:C:A 13602_5287_1763_E->* 355 chr8:144999041:G:A 13602_5014_1672_Q->* 355 chr8:144999248:G:A 13602_4807_1603_Q->* 355 chr8:144999254:G:A 13602_4801_1601_Q->* 355 chr8:144999338:C:A 13602_4717_1573_E->* 355 chr8:144999626:G:A 13602_4429_1477_Q->* 355 chr8:144999830:G:A 13602_4225_1409_Q->* 355 chr8:144999917:G:A 13602_4138_1380_Q->* 355 chr8:144999956:G:A 13602_4099_1367_Q->* 355 chr8:145001850:G:A 13602_3442_1148_R->* 355 chr8:145003587:G:A 13602_3034_1012_Q->* 355 chr8:145003680:G:A 13602_2941_981_Q->* 355 chr8:145009091:G:A 13602_790_264_Q->* 355 chr8:144992567:C:T 13602_11380_3794_G->S 355 chr8:144993491:G:A 13602_10456_3486_R->C 355 chr8:144995402:T:A 13602_8545_2849_T->S 355 chr8:144998180:G:A 13602_5875_1959_R->W 355 chr8:145009036:C:T 13602_845_282_R->Q 355 oneKG Variants: 355 chr8:145001174:G:A 13602_3874_1292_Q->* 0.000199681 355 chr8:144990353:C:T 13602_13594_4532_V->M 0.000599042 355 chr8:144990356:C:T 13602_13591_4531_A->T 0.000199681 355 chr8:144990365:G:A 13602_13582_4528_P->S 0.000199681 355 chr8:144990391:G:A 13602_13556_4519_S->L 0.000399361 355 chr8:144990400:C:T 13602_13547_4516_R->H 0.000199681 355 chr8:144990446:T:C 13602_13501_4501_M->V 0.000199681 355 chr8:144990461:C:T 13602_13486_4496_G->S 0.000199681 355 chr8:144990479:C:T 13602_13468_4490_G->S 0.000399361 355 chr8:144990482:G:A 13602_13465_4489_R->C 0.000199681 355 chr8:144990491:C:T 13602_13456_4486_G->S 0.000199681 355 chr8:144990587:C:T 13602_13360_4454_A->T 0.00399361 355 chr8:144990742:G:A 13602_13205_4402_T->M 0.000798722 355 chr8:144990746:C:T 13602_13201_4401_G->S 0.000199681 355 chr8:144990748:C:T 13602_13199_4400_R->H 0.000199681 355 chr8:144990749:G:A 13602_13198_4400_R->C 0.000399361 355 chr8:144990784:G:A 13602_13163_4388_T->M 0.0081869 355 chr8:144990795:G:C 13602_13152_4384_I->M 0.000199681 355 chr8:144990934:G:A 13602_13013_4338_A->V 0.000199681 355 chr8:144990989:C:T 13602_12958_4320_D->N 0.000199681 355 chr8:144991004:G:A 13602_12943_4315_R->C 0.000599042 355 chr8:144991082:C:T 13602_12865_4289_V->M 0.000199681 355 chr8:144991172:G:A 13602_12775_4259_P->S 0.00159744 355 chr8:144991205:C:T 13602_12742_4248_V->I 0.0115815 355 chr8:144991208:C:T 13602_12739_4247_A->T 0.000199681 355 chr8:144991271:C:T 13602_12676_4226_A->T 0.000399361 355 chr8:144991312:G:A 13602_12635_4212_T->M 0.000199681 355 chr8:144991318:G:C 13602_12629_4210_A->G 0.000199681 355 chr8:144991342:C:T 13602_12605_4202_R->H 0.000399361 355 chr8:144991361:C:T 13602_12586_4196_A->T 0.00199681 355 chr8:144991534:A:G 13602_12413_4138_M->T 0.000199681 355 chr8:144991559:C:T 13602_12388_4130_V->M 0.000199681 355 chr8:144991612:C:T 13602_12335_4112_R->Q 0.000798722 355 chr8:144991637:G:A 13602_12310_4104_L->F 0.000599042 355 chr8:144991648:G:A 13602_12299_4100_T->M 0.000199681 355 chr8:144991826:G:T 13602_12121_4041_P->T 0.000798722 355 chr8:144991925:G:A 13602_12022_4008_L->F 0.00279553 355 chr8:144991967:C:T 13602_11980_3994_E->K 0.000199681 355 chr8:144992004:A:C 13602_11943_3981_I->M 0.000199681 355 chr8:144992032:G:A 13602_11915_3972_T->M 0.000399361 355 chr8:144992104:G:A 13602_11843_3948_T->I 0.000199681 355 chr8:144992146:G:A 13602_11801_3934_S->L 0.000199681 355 chr8:144992161:G:T 13602_11786_3929_T->N 0.000599042 355 chr8:144992171:C:T 13602_11776_3926_V->M 0.000199681 355 chr8:144992237:T:C 13602_11710_3904_I->V 0.000199681 355 chr8:144992269:G:A 13602_11678_3893_T->M 0.0061901 355 chr8:144992276:C:T 13602_11671_3891_E->K 0.000199681 355 chr8:144992347:C:T 13602_11600_3867_R->H 0.000199681 355 chr8:144992348:G:A 13602_11599_3867_R->C 0.000199681 355 chr8:144992351:C:T 13602_11596_3866_A->T 0.000399361 355 chr8:144992378:C:T 13602_11569_3857_G->S 0.00199681 355 chr8:144992390:C:G 13602_11557_3853_D->H 0.0377396 355 chr8:144992395:C:T 13602_11552_3851_R->H 0.000199681 355 chr8:144992402:G:A 13602_11545_3849_R->W 0.000199681 355 chr8:144992432:C:T 13602_11515_3839_E->K 0.000199681 355 chr8:144992450:C:T 13602_11497_3833_V->M 0.000798722 355 chr8:144992465:C:T 13602_11482_3828_E->K 0.00139776 355 chr8:144992491:G:A 13602_11456_3819_T->M 0.000199681 355 chr8:144992546:C:G 13602_11401_3801_G->R 0.000798722 355 chr8:144992552:G:A 13602_11395_3799_R->C 0.000199681 355 chr8:144992723:C:T 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355 chr8:145001588:C:T 13602_3704_1235_R->Q 0.230831 355 chr8:145001600:C:T 13602_3692_1231_R->Q 0.000599042 355 chr8:145001603:A:C 13602_3689_1230_V->G 0.000399361 355 chr8:145001648:C:T 13602_3644_1215_R->Q 0.000199681 355 chr8:145001652:G:A 13602_3640_1214_R->W 0.00199681 355 chr8:145001714:C:A 13602_3578_1193_R->L 0.000798722 355 chr8:145001735:C:A 13602_3557_1186_R->L 0.000199681 355 chr8:145001736:G:A 13602_3556_1186_R->C 0.000199681 355 chr8:145001765:G:A 13602_3527_1176_A->V 0.000199681 355 chr8:145001808:G:A 13602_3484_1162_R->C 0.000399361 355 chr8:145001892:C:T 13602_3400_1134_A->T 0.000399361 355 chr8:145001900:G:A 13602_3392_1131_T->M 0.00159744 355 chr8:145002128:G:A 13602_3251_1084_T->M 0.000399361 355 chr8:145002132:C:T 13602_3247_1083_G->S 0.000399361 355 chr8:145002135:G:A 13602_3244_1082_R->C 0.000599042 355 chr8:145003295:C:T 13602_3194_1065_S->N 0.000199681 355 chr8:145003304:T:C 13602_3185_1062_Q->R 0.000599042 355 chr8:145003308:C:T 13602_3181_1061_E->K 0.000199681 355 chr8:145003323:T:C 13602_3166_1056_T->A 0.000599042 355 chr8:145003340:C:T 13602_3149_1050_R->H 0.00159744 355 chr8:145003355:G:A 13602_3134_1045_A->V 0.000199681 355 chr8:145003359:G:A 13602_3130_1044_P->S 0.000199681 355 chr8:145003406:C:T 13602_3083_1028_R->Q 0.000399361 355 chr8:145003590:C:T 13602_3031_1011_E->K 0.00119808 355 chr8:145003593:C:T 13602_3028_1010_A->T 0.000199681 355 chr8:145003646:C:T 13602_2975_992_R->H 0.000199681 355 chr8:145003647:G:A 13602_2974_992_R->C 0.000199681 355 chr8:145003655:G:C 13602_2966_989_T->S 0.000199681 355 chr8:145003667:C:T 13602_2954_985_C->Y 0.000199681 355 chr8:145003671:C:T 13602_2950_984_A->T 0.000199681 355 chr8:145003685:C:T 13602_2936_979_R->Q 0.00139776 355 chr8:145003701:C:G 13602_2920_974_E->Q 0.000399361 355 chr8:145003894:G:C 13602_2801_934_P->R 0.000199681 355 chr8:145003909:G:A 13602_2786_929_A->V 0.000199681 355 chr8:145003924:C:T 13602_2771_924_R->Q 0.000199681 355 chr8:145004124:G:A 13602_2677_893_R->C 0.000199681 355 chr8:145004139:C:T 13602_2662_888_D->N 0.000998403 355 chr8:145004144:C:T 13602_2657_886_R->H 0.000399361 355 chr8:145004201:G:A 13602_2600_867_T->M 0.000998403 355 chr8:145004373:C:T 13602_2509_837_V->M 0.00179712 355 chr8:145004376:C:T 13602_2506_836_A->T 0.0357428 355 chr8:145004388:C:T 13602_2494_832_G->S 0.00139776 355 chr8:145004447:T:C 13602_2435_812_D->G 0.000399361 355 chr8:145004574:A:G 13602_2393_798_V->A 0.000199681 355 chr8:145004575:C:G 13602_2392_798_V->L 0.000399361 355 chr8:145004586:G:A 13602_2381_794_P->L 0.000199681 355 chr8:145004599:G:A,T 13602_2368_790_R->W 0.000599042 355 chr8:145004638:C:T 13602_2329_777_V->I 0.000199681 355 chr8:145004701:C:T 13602_2266_756_E->K 0.000599042 355 chr8:145005743:C:T 13602_2221_741_A->T 0.000399361 355 chr8:145005769:C:T 13602_2195_732_R->H 0.000599042 355 chr8:145005792:C:A 13602_2172_724_L->F 0.000199681 355 chr8:145005811:C:T 13602_2153_718_R->Q 0.000199681 355 chr8:145006143:T:C 13602_2098_700_I->V 0.00139776 355 chr8:145006145:C:G 13602_2096_699_C->S 0.000399361 355 chr8:145006187:G:A 13602_2054_685_A->V 0.000199681 355 chr8:145006317:G:A 13602_2021_674_P->L 0.000599042 355 chr8:145006338:C:T 13602_2000_667_R->Q 0.000199681 355 chr8:145006569:G:A 13602_1934_645_S->L 0.000199681 355 chr8:145006576:T:A 13602_1927_643_S->C 0.00119808 355 chr8:145006590:G:A 13602_1913_638_T->I 0.00159744 355 chr8:145006606:G:A 13602_1897_633_R->C 0.000199681 355 chr8:145006644:T:C 13602_1859_620_E->G 0.000199681 355 chr8:145006832:G:C 13602_1744_582_R->G 0.000199681 355 chr8:145006847:G:A 13602_1729_577_R->C 0.000199681 355 chr8:145006858:C:T 13602_1718_573_R->Q 0.000199681 355 chr8:145006859:G:A 13602_1717_573_R->W 0.000199681 355 chr8:145006971:C:T 13602_1685_562_R->Q 0.000599042 355 chr8:145006972:G:A 13602_1684_562_R->W 0.000199681 355 chr8:145006992:C:T 13602_1664_555_R->Q 0.00658946 355 chr8:145006993:G:A 13602_1663_555_R->W 0.000399361 355 chr8:145007069:C:A 13602_1587_529_E->D 0.00459265 355 chr8:145007085:C:T 13602_1571_524_R->H 0.000199681 355 chr8:145007109:G:A 13602_1547_516_A->V 0.000399361 355 chr8:145007139:G:A 13602_1517_506_S->F 0.000199681 355 chr8:145007152:C:T 13602_1504_502_E->K 0.000199681 355 chr8:145007158:G:A 13602_1498_500_R->C 0.000199681 355 chr8:145007187:G:A 13602_1469_490_A->V 0.23143 355 chr8:145007212:C:T 13602_1444_482_V->M 0.000199681 355 chr8:145007244:C:A 13602_1412_471_R->L 0.000798722 355 chr8:145007260:G:A 13602_1396_466_R->C 0.000798722 355 chr8:145007368:C:T 13602_1373_458_R->H 0.000199681 355 chr8:145007369:G:A 13602_1372_458_R->C 0.000199681 355 chr8:145007396:G:A 13602_1345_449_R->W 0.000399361 355 chr8:145007464:C:T 13602_1277_426_R->Q 0.000199681 355 chr8:145007500:G:A 13602_1241_414_A->V 0.000798722 355 chr8:145007512:C:T 13602_1229_410_R->Q 0.000199681 355 chr8:145008202:C:G 13602_1185_395_E->D 0.000199681 355 chr8:145008497:G:C 13602_1116_372_S->R 0.000998403 355 chr8:145008532:C:T 13602_1081_361_V->M 0.000399361 355 chr8:145008592:G:A 13602_1021_341_L->F 0.000199681 355 chr8:145008989:C:T 13602_892_298_E->K 0.000199681 355 chr8:145009022:C:T 13602_859_287_A->T 0.000399361 355 chr8:145009036:C:T 13602_845_282_R->Q 0.00399361 355 chr8:145009038:C:T 13602_843_281_M->I 0.000199681 355 chr8:145009069:C:T 13602_812_271_R->Q 0.00399361 355 chr8:145009070:G:A 13602_811_271_R->W 0.000199681 355 chr8:145009402:G:A 13602_640_214_R->W 0.000998403 355 chr8:145009424:G:C 13602_618_206_D->E 0.000399361 355 chr8:145009426:C:A 13602_616_206_D->Y 0.000199681 355 chr8:145009449:C:T 13602_593_198_R->Q 0.000199681 355 chr8:145009450:G:A 13602_592_198_R->W 0.000599042 355 chr8:145010067:G:A 13602_509_170_T->I 0.000199681 355 chr8:145012407:G:A 13602_134_45_A->V 0.000199681 355 chr8:145012801:T:C 13602_130_44_K->E 0.000399361 355 na12878 Variants: 355 chr8:144995494:C:T 13602_8453_2818_R->H 355 chr8:145001031:T:C 13602_3923_1308_H->R 355 chr8:145007187:G:A 13602_1469_490_A->V 355 chr8:144996029:A:G 13602_7918_2640_S->P 355 chr8:145001588:C:T 13602_3704_1235_R->Q 355 snyder Variants: 355 chr8:144994888:G:A 13602_9059_3020_A->V 355 chr8:144995494:C:T 13602_8453_2818_R->H 355 chr8:145001031:T:C 13602_3923_1308_H->R 355 chr8:145007187:G:A 13602_1469_490_A->V 355 chr8:144996029:A:G 13602_7918_2640_S->P 355 chr8:145001588:C:T 13602_3704_1235_R->Q 356 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000436759 gene_Name: PLEC_HUMAN 356 list of pdbs: 356 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 356 3PE0 pdb_description: - - 356 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 356 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 356 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 356 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 356 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 356 Zimmer Variants: 356 chr8:144995494:C:T 13725_8576_2859_R->H 356 chr8:145001031:T:C 13725_4046_1349_H->R 356 chr8:145007187:G:A 13725_1592_531_A->V 356 chr8:144996029:A:G 13725_8041_2681_S->P 356 chr8:145001588:C:T 13725_3827_1276_R->Q 356 HGMD Variants: 356 chr8:144990692:T:A 13725_13378_4460_K->* 356 chr8:144991571:G:A 13725_12499_4167_R->* 356 chr8:144993086:G:A 13725_10984_3662_Q->* 356 chr8:144993614:G:A 13725_10456_3486_Q->* 356 chr8:144994985:G:A 13725_9085_3029_R->* 356 chr8:144996266:G:A 13725_7804_2602_Q->* 356 chr8:144996281:G:A 13725_7789_2597_Q->* 356 chr8:144996437:G:A 13725_7633_2545_Q->* 356 chr8:144996458:G:A 13725_7612_2538_Q->* 356 chr8:144996782:G:A 13725_7396_2466_Q->* 356 chr8:144996785:G:A 13725_7393_2465_R->* 356 chr8:144996917:G:A 13725_7261_2421_R->* 356 chr8:144997058:G:A 13725_7120_2374_Q->* 356 chr8:144997127:G:A 13725_7051_2351_R->* 356 chr8:144997223:G:A 13725_6955_2319_R->* 356 chr8:144997496:G:A 13725_6682_2228_Q->* 356 chr8:144997886:G:A 13725_6292_2098_Q->* 356 chr8:144998009:G:A 13725_6169_2057_Q->* 356 chr8:144998165:C:A 13725_6013_2005_E->* 356 chr8:144998372:G:A 13725_5806_1936_Q->* 356 chr8:144998408:G:A 13725_5770_1924_Q->* 356 chr8:144998450:G:A 13725_5728_1910_Q->* 356 chr8:144998768:C:A 13725_5410_1804_E->* 356 chr8:144999041:G:A 13725_5137_1713_Q->* 356 chr8:144999248:G:A 13725_4930_1644_Q->* 356 chr8:144999254:G:A 13725_4924_1642_Q->* 356 chr8:144999338:C:A 13725_4840_1614_E->* 356 chr8:144999626:G:A 13725_4552_1518_Q->* 356 chr8:144999830:G:A 13725_4348_1450_Q->* 356 chr8:144999917:G:A 13725_4261_1421_Q->* 356 chr8:144999956:G:A 13725_4222_1408_Q->* 356 chr8:145001850:G:A 13725_3565_1189_R->* 356 chr8:145003587:G:A 13725_3157_1053_Q->* 356 chr8:145003680:G:A 13725_3064_1022_Q->* 356 chr8:145009091:G:A 13725_913_305_Q->* 356 chr8:144992567:C:T 13725_11503_3835_G->S 356 chr8:144993491:G:A 13725_10579_3527_R->C 356 chr8:144995402:T:A 13725_8668_2890_T->S 356 chr8:144998180:G:A 13725_5998_2000_R->W 356 chr8:145009036:C:T 13725_968_323_R->Q 356 oneKG Variants: 356 chr8:145001174:G:A 13725_3997_1333_Q->* 0.000199681 356 chr8:144990353:C:T 13725_13717_4573_V->M 0.000599042 356 chr8:144990356:C:T 13725_13714_4572_A->T 0.000199681 356 chr8:144990365:G:A 13725_13705_4569_P->S 0.000199681 356 chr8:144990391:G:A 13725_13679_4560_S->L 0.000399361 356 chr8:144990400:C:T 13725_13670_4557_R->H 0.000199681 356 chr8:144990446:T:C 13725_13624_4542_M->V 0.000199681 356 chr8:144990461:C:T 13725_13609_4537_G->S 0.000199681 356 chr8:144990479:C:T 13725_13591_4531_G->S 0.000399361 356 chr8:144990482:G:A 13725_13588_4530_R->C 0.000199681 356 chr8:144990491:C:T 13725_13579_4527_G->S 0.000199681 356 chr8:144990587:C:T 13725_13483_4495_A->T 0.00399361 356 chr8:144990742:G:A 13725_13328_4443_T->M 0.000798722 356 chr8:144990746:C:T 13725_13324_4442_G->S 0.000199681 356 chr8:144990748:C:T 13725_13322_4441_R->H 0.000199681 356 chr8:144990749:G:A 13725_13321_4441_R->C 0.000399361 356 chr8:144990784:G:A 13725_13286_4429_T->M 0.0081869 356 chr8:144990795:G:C 13725_13275_4425_I->M 0.000199681 356 chr8:144990934:G:A 13725_13136_4379_A->V 0.000199681 356 chr8:144990989:C:T 13725_13081_4361_D->N 0.000199681 356 chr8:144991004:G:A 13725_13066_4356_R->C 0.000599042 356 chr8:144991082:C:T 13725_12988_4330_V->M 0.000199681 356 chr8:144991172:G:A 13725_12898_4300_P->S 0.00159744 356 chr8:144991205:C:T 13725_12865_4289_V->I 0.0115815 356 chr8:144991208:C:T 13725_12862_4288_A->T 0.000199681 356 chr8:144991271:C:T 13725_12799_4267_A->T 0.000399361 356 chr8:144991312:G:A 13725_12758_4253_T->M 0.000199681 356 chr8:144991318:G:C 13725_12752_4251_A->G 0.000199681 356 chr8:144991342:C:T 13725_12728_4243_R->H 0.000399361 356 chr8:144991361:C:T 13725_12709_4237_A->T 0.00199681 356 chr8:144991534:A:G 13725_12536_4179_M->T 0.000199681 356 chr8:144991559:C:T 13725_12511_4171_V->M 0.000199681 356 chr8:144991612:C:T 13725_12458_4153_R->Q 0.000798722 356 chr8:144991637:G:A 13725_12433_4145_L->F 0.000599042 356 chr8:144991648:G:A 13725_12422_4141_T->M 0.000199681 356 chr8:144991826:G:T 13725_12244_4082_P->T 0.000798722 356 chr8:144991925:G:A 13725_12145_4049_L->F 0.00279553 356 chr8:144991967:C:T 13725_12103_4035_E->K 0.000199681 356 chr8:144992004:A:C 13725_12066_4022_I->M 0.000199681 356 chr8:144992032:G:A 13725_12038_4013_T->M 0.000399361 356 chr8:144992104:G:A 13725_11966_3989_T->I 0.000199681 356 chr8:144992146:G:A 13725_11924_3975_S->L 0.000199681 356 chr8:144992161:G:T 13725_11909_3970_T->N 0.000599042 356 chr8:144992171:C:T 13725_11899_3967_V->M 0.000199681 356 chr8:144992237:T:C 13725_11833_3945_I->V 0.000199681 356 chr8:144992269:G:A 13725_11801_3934_T->M 0.0061901 356 chr8:144992276:C:T 13725_11794_3932_E->K 0.000199681 356 chr8:144992347:C:T 13725_11723_3908_R->H 0.000199681 356 chr8:144992348:G:A 13725_11722_3908_R->C 0.000199681 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356 chr8:145000972:G:A 13725_4105_1369_R->W 0.000199681 356 chr8:145000977:G:A 13725_4100_1367_T->I 0.000199681 356 chr8:145001028:T:C 13725_4049_1350_Y->C 0.000199681 356 chr8:145001031:T:C 13725_4046_1349_H->R 0.466653 356 chr8:145001032:G:A 13725_4045_1349_H->Y 0.000199681 356 chr8:145001038:G:A 13725_4039_1347_R->C 0.00259585 356 chr8:145001167:C:G 13725_4004_1335_G->A 0.000199681 356 chr8:145001194:G:A 13725_3977_1326_P->L 0.000199681 356 chr8:145001221:T:C 13725_3950_1317_K->R 0.00239617 356 chr8:145001464:C:T 13725_3877_1293_E->K 0.000199681 356 chr8:145001473:C:T 13725_3868_1290_E->K 0.000798722 356 chr8:145001482:G:C 13725_3859_1287_R->G 0.00319489 356 chr8:145001588:C:T 13725_3827_1276_R->Q 0.230831 356 chr8:145001600:C:T 13725_3815_1272_R->Q 0.000599042 356 chr8:145001603:A:C 13725_3812_1271_V->G 0.000399361 356 chr8:145001648:C:T 13725_3767_1256_R->Q 0.000199681 356 chr8:145001652:G:A 13725_3763_1255_R->W 0.00199681 356 chr8:145001714:C:A 13725_3701_1234_R->L 0.000798722 356 chr8:145001735:C:A 13725_3680_1227_R->L 0.000199681 356 chr8:145001736:G:A 13725_3679_1227_R->C 0.000199681 356 chr8:145001765:G:A 13725_3650_1217_A->V 0.000199681 356 chr8:145001808:G:A 13725_3607_1203_R->C 0.000399361 356 chr8:145001892:C:T 13725_3523_1175_A->T 0.000399361 356 chr8:145001900:G:A 13725_3515_1172_T->M 0.00159744 356 chr8:145002128:G:A 13725_3374_1125_T->M 0.000399361 356 chr8:145002132:C:T 13725_3370_1124_G->S 0.000399361 356 chr8:145002135:G:A 13725_3367_1123_R->C 0.000599042 356 chr8:145003295:C:T 13725_3317_1106_S->N 0.000199681 356 chr8:145003304:T:C 13725_3308_1103_Q->R 0.000599042 356 chr8:145003308:C:T 13725_3304_1102_E->K 0.000199681 356 chr8:145003323:T:C 13725_3289_1097_T->A 0.000599042 356 chr8:145003340:C:T 13725_3272_1091_R->H 0.00159744 356 chr8:145003355:G:A 13725_3257_1086_A->V 0.000199681 356 chr8:145003359:G:A 13725_3253_1085_P->S 0.000199681 356 chr8:145003406:C:T 13725_3206_1069_R->Q 0.000399361 356 chr8:145003590:C:T 13725_3154_1052_E->K 0.00119808 356 chr8:145003593:C:T 13725_3151_1051_A->T 0.000199681 356 chr8:145003646:C:T 13725_3098_1033_R->H 0.000199681 356 chr8:145003647:G:A 13725_3097_1033_R->C 0.000199681 356 chr8:145003655:G:C 13725_3089_1030_T->S 0.000199681 356 chr8:145003667:C:T 13725_3077_1026_C->Y 0.000199681 356 chr8:145003671:C:T 13725_3073_1025_A->T 0.000199681 356 chr8:145003685:C:T 13725_3059_1020_R->Q 0.00139776 356 chr8:145003701:C:G 13725_3043_1015_E->Q 0.000399361 356 chr8:145003894:G:C 13725_2924_975_P->R 0.000199681 356 chr8:145003909:G:A 13725_2909_970_A->V 0.000199681 356 chr8:145003924:C:T 13725_2894_965_R->Q 0.000199681 356 chr8:145004124:G:A 13725_2800_934_R->C 0.000199681 356 chr8:145004139:C:T 13725_2785_929_D->N 0.000998403 356 chr8:145004144:C:T 13725_2780_927_R->H 0.000399361 356 chr8:145004201:G:A 13725_2723_908_T->M 0.000998403 356 chr8:145004373:C:T 13725_2632_878_V->M 0.00179712 356 chr8:145004376:C:T 13725_2629_877_A->T 0.0357428 356 chr8:145004388:C:T 13725_2617_873_G->S 0.00139776 356 chr8:145004447:T:C 13725_2558_853_D->G 0.000399361 356 chr8:145004574:A:G 13725_2516_839_V->A 0.000199681 356 chr8:145004575:C:G 13725_2515_839_V->L 0.000399361 356 chr8:145004586:G:A 13725_2504_835_P->L 0.000199681 356 chr8:145004599:G:A,T 13725_2491_831_R->W 0.000599042 356 chr8:145004638:C:T 13725_2452_818_V->I 0.000199681 356 chr8:145004701:C:T 13725_2389_797_E->K 0.000599042 356 chr8:145005743:C:T 13725_2344_782_A->T 0.000399361 356 chr8:145005769:C:T 13725_2318_773_R->H 0.000599042 356 chr8:145005792:C:A 13725_2295_765_L->F 0.000199681 356 chr8:145005811:C:T 13725_2276_759_R->Q 0.000199681 356 chr8:145006143:T:C 13725_2221_741_I->V 0.00139776 356 chr8:145006145:C:G 13725_2219_740_C->S 0.000399361 356 chr8:145006187:G:A 13725_2177_726_A->V 0.000199681 356 chr8:145006317:G:A 13725_2144_715_P->L 0.000599042 356 chr8:145006338:C:T 13725_2123_708_R->Q 0.000199681 356 chr8:145006569:G:A 13725_2057_686_S->L 0.000199681 356 chr8:145006576:T:A 13725_2050_684_S->C 0.00119808 356 chr8:145006590:G:A 13725_2036_679_T->I 0.00159744 356 chr8:145006606:G:A 13725_2020_674_R->C 0.000199681 356 chr8:145006644:T:C 13725_1982_661_E->G 0.000199681 356 chr8:145006832:G:C 13725_1867_623_R->G 0.000199681 356 chr8:145006847:G:A 13725_1852_618_R->C 0.000199681 356 chr8:145006858:C:T 13725_1841_614_R->Q 0.000199681 356 chr8:145006859:G:A 13725_1840_614_R->W 0.000199681 356 chr8:145006971:C:T 13725_1808_603_R->Q 0.000599042 356 chr8:145006972:G:A 13725_1807_603_R->W 0.000199681 356 chr8:145006992:C:T 13725_1787_596_R->Q 0.00658946 356 chr8:145006993:G:A 13725_1786_596_R->W 0.000399361 356 chr8:145007069:C:A 13725_1710_570_E->D 0.00459265 356 chr8:145007085:C:T 13725_1694_565_R->H 0.000199681 356 chr8:145007109:G:A 13725_1670_557_A->V 0.000399361 356 chr8:145007139:G:A 13725_1640_547_S->F 0.000199681 356 chr8:145007152:C:T 13725_1627_543_E->K 0.000199681 356 chr8:145007158:G:A 13725_1621_541_R->C 0.000199681 356 chr8:145007187:G:A 13725_1592_531_A->V 0.23143 356 chr8:145007212:C:T 13725_1567_523_V->M 0.000199681 356 chr8:145007244:C:A 13725_1535_512_R->L 0.000798722 356 chr8:145007260:G:A 13725_1519_507_R->C 0.000798722 356 chr8:145007368:C:T 13725_1496_499_R->H 0.000199681 356 chr8:145007369:G:A 13725_1495_499_R->C 0.000199681 356 chr8:145007396:G:A 13725_1468_490_R->W 0.000399361 356 chr8:145007464:C:T 13725_1400_467_R->Q 0.000199681 356 chr8:145007500:G:A 13725_1364_455_A->V 0.000798722 356 chr8:145007512:C:T 13725_1352_451_R->Q 0.000199681 356 chr8:145008202:C:G 13725_1308_436_E->D 0.000199681 356 chr8:145008497:G:C 13725_1239_413_S->R 0.000998403 356 chr8:145008532:C:T 13725_1204_402_V->M 0.000399361 356 chr8:145008592:G:A 13725_1144_382_L->F 0.000199681 356 chr8:145008989:C:T 13725_1015_339_E->K 0.000199681 356 chr8:145009022:C:T 13725_982_328_A->T 0.000399361 356 chr8:145009036:C:T 13725_968_323_R->Q 0.00399361 356 chr8:145009038:C:T 13725_966_322_M->I 0.000199681 356 chr8:145009069:C:T 13725_935_312_R->Q 0.00399361 356 chr8:145009070:G:A 13725_934_312_R->W 0.000199681 356 chr8:145009402:G:A 13725_763_255_R->W 0.000998403 356 chr8:145009424:G:C 13725_741_247_D->E 0.000399361 356 chr8:145009426:C:A 13725_739_247_D->Y 0.000199681 356 chr8:145009449:C:T 13725_716_239_R->Q 0.000199681 356 chr8:145009450:G:A 13725_715_239_R->W 0.000599042 356 chr8:145010067:G:A 13725_632_211_T->I 0.000199681 356 chr8:145012407:G:A 13725_257_86_A->V 0.000199681 356 chr8:145012801:T:C 13725_253_85_K->E 0.000399361 356 chr8:145049405:C:T 13725_133_45_G->S 0.000998403 356 chr8:145049512:C:T 13725_26_9_R->Q 0.00559105 356 na12878 Variants: 356 chr8:144995494:C:T 13725_8576_2859_R->H 356 chr8:145001031:T:C 13725_4046_1349_H->R 356 chr8:145007187:G:A 13725_1592_531_A->V 356 chr8:144996029:A:G 13725_8041_2681_S->P 356 chr8:145001588:C:T 13725_3827_1276_R->Q 356 snyder Variants: 356 chr8:144994888:G:A 13725_9182_3061_A->V 356 chr8:144995494:C:T 13725_8576_2859_R->H 356 chr8:145001031:T:C 13725_4046_1349_H->R 356 chr8:145007187:G:A 13725_1592_531_A->V 356 chr8:144996029:A:G 13725_8041_2681_S->P 356 chr8:145001588:C:T 13725_3827_1276_R->Q 357 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000178209_ENST00000527096 gene_Name: PLEC_HUMAN 357 list of pdbs: 357 4GDO pdb_description: 11-Sep-13 X-ray 1.700 Structure of a fragment of the rod domain of plectin 357 3PE0 pdb_description: - - 357 3PDY pdb_description: 02-Feb-11 X-ray 2.220 Structure of the third and fourth spectrin repeats of the pl domain of plectin 357 2ODV pdb_description: 13-Mar-07 X-ray 2.050 Crystal structure of a fragment of the plakin domain of plec to ala mutant. 357 2ODU pdb_description: 13-Mar-07 X-ray 2.300 Crystal structure of a fragment of the plakin domain of plec 357 1MB8 pdb_description: 10-Jun-03 X-ray 2.150 Crystal structure of the actin binding domain of plectin 357 3F7P pdb_description: 10-Mar-09 X-ray 2.750 Crystal structure of a complex between integrin beta4 and plectin 357 Zimmer Variants: 357 chr8:144995494:C:T 13713_8564_2855_R->H 357 chr8:145001031:T:C 13713_4034_1345_H->R 357 chr8:145007187:G:A 13713_1580_527_A->V 357 chr8:144996029:A:G 13713_8029_2677_S->P 357 chr8:145001588:C:T 13713_3815_1272_R->Q 357 HGMD Variants: 357 chr8:144990692:T:A 13713_13366_4456_K->* 357 chr8:144991571:G:A 13713_12487_4163_R->* 357 chr8:144993086:G:A 13713_10972_3658_Q->* 357 chr8:144993614:G:A 13713_10444_3482_Q->* 357 chr8:144994985:G:A 13713_9073_3025_R->* 357 chr8:144996266:G:A 13713_7792_2598_Q->* 357 chr8:144996281:G:A 13713_7777_2593_Q->* 357 chr8:144996437:G:A 13713_7621_2541_Q->* 357 chr8:144996458:G:A 13713_7600_2534_Q->* 357 chr8:144996782:G:A 13713_7384_2462_Q->* 357 chr8:144996785:G:A 13713_7381_2461_R->* 357 chr8:144996917:G:A 13713_7249_2417_R->* 357 chr8:144997058:G:A 13713_7108_2370_Q->* 357 chr8:144997127:G:A 13713_7039_2347_R->* 357 chr8:144997223:G:A 13713_6943_2315_R->* 357 chr8:144997496:G:A 13713_6670_2224_Q->* 357 chr8:144997886:G:A 13713_6280_2094_Q->* 357 chr8:144998009:G:A 13713_6157_2053_Q->* 357 chr8:144998165:C:A 13713_6001_2001_E->* 357 chr8:144998372:G:A 13713_5794_1932_Q->* 357 chr8:144998408:G:A 13713_5758_1920_Q->* 357 chr8:144998450:G:A 13713_5716_1906_Q->* 357 chr8:144998768:C:A 13713_5398_1800_E->* 357 chr8:144999041:G:A 13713_5125_1709_Q->* 357 chr8:144999248:G:A 13713_4918_1640_Q->* 357 chr8:144999254:G:A 13713_4912_1638_Q->* 357 chr8:144999338:C:A 13713_4828_1610_E->* 357 chr8:144999626:G:A 13713_4540_1514_Q->* 357 chr8:144999830:G:A 13713_4336_1446_Q->* 357 chr8:144999917:G:A 13713_4249_1417_Q->* 357 chr8:144999956:G:A 13713_4210_1404_Q->* 357 chr8:145001850:G:A 13713_3553_1185_R->* 357 chr8:145003587:G:A 13713_3145_1049_Q->* 357 chr8:145003680:G:A 13713_3052_1018_Q->* 357 chr8:145009091:G:A 13713_901_301_Q->* 357 chr8:144992567:C:T 13713_11491_3831_G->S 357 chr8:144993491:G:A 13713_10567_3523_R->C 357 chr8:144995402:T:A 13713_8656_2886_T->S 357 chr8:144998180:G:A 13713_5986_1996_R->W 357 chr8:145009036:C:T 13713_956_319_R->Q 357 oneKG Variants: 357 chr8:145001174:G:A 13713_3985_1329_Q->* 0.000199681 357 chr8:144990353:C:T 13713_13705_4569_V->M 0.000599042 357 chr8:144990356:C:T 13713_13702_4568_A->T 0.000199681 357 chr8:144990365:G:A 13713_13693_4565_P->S 0.000199681 357 chr8:144990391:G:A 13713_13667_4556_S->L 0.000399361 357 chr8:144990400:C:T 13713_13658_4553_R->H 0.000199681 357 chr8:144990446:T:C 13713_13612_4538_M->V 0.000199681 357 chr8:144990461:C:T 13713_13597_4533_G->S 0.000199681 357 chr8:144990479:C:T 13713_13579_4527_G->S 0.000399361 357 chr8:144990482:G:A 13713_13576_4526_R->C 0.000199681 357 chr8:144990491:C:T 13713_13567_4523_G->S 0.000199681 357 chr8:144990587:C:T 13713_13471_4491_A->T 0.00399361 357 chr8:144990742:G:A 13713_13316_4439_T->M 0.000798722 357 chr8:144990746:C:T 13713_13312_4438_G->S 0.000199681 357 chr8:144990748:C:T 13713_13310_4437_R->H 0.000199681 357 chr8:144990749:G:A 13713_13309_4437_R->C 0.000399361 357 chr8:144990784:G:A 13713_13274_4425_T->M 0.0081869 357 chr8:144990795:G:C 13713_13263_4421_I->M 0.000199681 357 chr8:144990934:G:A 13713_13124_4375_A->V 0.000199681 357 chr8:144990989:C:T 13713_13069_4357_D->N 0.000199681 357 chr8:144991004:G:A 13713_13054_4352_R->C 0.000599042 357 chr8:144991082:C:T 13713_12976_4326_V->M 0.000199681 357 chr8:144991172:G:A 13713_12886_4296_P->S 0.00159744 357 chr8:144991205:C:T 13713_12853_4285_V->I 0.0115815 357 chr8:144991208:C:T 13713_12850_4284_A->T 0.000199681 357 chr8:144991271:C:T 13713_12787_4263_A->T 0.000399361 357 chr8:144991312:G:A 13713_12746_4249_T->M 0.000199681 357 chr8:144991318:G:C 13713_12740_4247_A->G 0.000199681 357 chr8:144991342:C:T 13713_12716_4239_R->H 0.000399361 357 chr8:144991361:C:T 13713_12697_4233_A->T 0.00199681 357 chr8:144991534:A:G 13713_12524_4175_M->T 0.000199681 357 chr8:144991559:C:T 13713_12499_4167_V->M 0.000199681 357 chr8:144991612:C:T 13713_12446_4149_R->Q 0.000798722 357 chr8:144991637:G:A 13713_12421_4141_L->F 0.000599042 357 chr8:144991648:G:A 13713_12410_4137_T->M 0.000199681 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chr8:144999523:G:A 13713_4643_1548_A->V 0.000399361 357 chr8:144999541:G:A 13713_4625_1542_S->L 0.000199681 357 chr8:144999565:C:T 13713_4601_1534_R->Q 0.000199681 357 chr8:144999608:C:T 13713_4558_1520_E->K 0.000199681 357 chr8:144999652:G:A 13713_4514_1505_A->V 0.000399361 357 chr8:144999731:C:T 13713_4435_1479_V->M 0.00159744 357 chr8:144999733:C:T 13713_4433_1478_R->H 0.000199681 357 chr8:144999751:C:T 13713_4415_1472_R->H 0.000199681 357 chr8:144999785:G:A 13713_4381_1461_R->W 0.000199681 357 chr8:144999850:C:T 13713_4316_1439_R->H 0.000199681 357 chr8:144999874:G:A 13713_4292_1431_A->V 0.00898562 357 chr8:144999877:G:A 13713_4289_1430_A->V 0.000199681 357 chr8:144999910:C:T 13713_4256_1419_R->H 0.000199681 357 chr8:144999935:G:A 13713_4231_1411_R->W 0.00519169 357 chr8:145000021:C:T 13713_4145_1382_R->H 0.000798722 357 chr8:145000972:G:A 13713_4093_1365_R->W 0.000199681 357 chr8:145000977:G:A 13713_4088_1363_T->I 0.000199681 357 chr8:145001028:T:C 13713_4037_1346_Y->C 0.000199681 357 chr8:145001031:T:C 13713_4034_1345_H->R 0.466653 357 chr8:145001032:G:A 13713_4033_1345_H->Y 0.000199681 357 chr8:145001038:G:A 13713_4027_1343_R->C 0.00259585 357 chr8:145001167:C:G 13713_3992_1331_G->A 0.000199681 357 chr8:145001194:G:A 13713_3965_1322_P->L 0.000199681 357 chr8:145001221:T:C 13713_3938_1313_K->R 0.00239617 357 chr8:145001464:C:T 13713_3865_1289_E->K 0.000199681 357 chr8:145001473:C:T 13713_3856_1286_E->K 0.000798722 357 chr8:145001482:G:C 13713_3847_1283_R->G 0.00319489 357 chr8:145001588:C:T 13713_3815_1272_R->Q 0.230831 357 chr8:145001600:C:T 13713_3803_1268_R->Q 0.000599042 357 chr8:145001603:A:C 13713_3800_1267_V->G 0.000399361 357 chr8:145001648:C:T 13713_3755_1252_R->Q 0.000199681 357 chr8:145001652:G:A 13713_3751_1251_R->W 0.00199681 357 chr8:145001714:C:A 13713_3689_1230_R->L 0.000798722 357 chr8:145001735:C:A 13713_3668_1223_R->L 0.000199681 357 chr8:145001736:G:A 13713_3667_1223_R->C 0.000199681 357 chr8:145001765:G:A 13713_3638_1213_A->V 0.000199681 357 chr8:145001808:G:A 13713_3595_1199_R->C 0.000399361 357 chr8:145001892:C:T 13713_3511_1171_A->T 0.000399361 357 chr8:145001900:G:A 13713_3503_1168_T->M 0.00159744 357 chr8:145002128:G:A 13713_3362_1121_T->M 0.000399361 357 chr8:145002132:C:T 13713_3358_1120_G->S 0.000399361 357 chr8:145002135:G:A 13713_3355_1119_R->C 0.000599042 357 chr8:145003295:C:T 13713_3305_1102_S->N 0.000199681 357 chr8:145003304:T:C 13713_3296_1099_Q->R 0.000599042 357 chr8:145003308:C:T 13713_3292_1098_E->K 0.000199681 357 chr8:145003323:T:C 13713_3277_1093_T->A 0.000599042 357 chr8:145003340:C:T 13713_3260_1087_R->H 0.00159744 357 chr8:145003355:G:A 13713_3245_1082_A->V 0.000199681 357 chr8:145003359:G:A 13713_3241_1081_P->S 0.000199681 357 chr8:145003406:C:T 13713_3194_1065_R->Q 0.000399361 357 chr8:145003590:C:T 13713_3142_1048_E->K 0.00119808 357 chr8:145003593:C:T 13713_3139_1047_A->T 0.000199681 357 chr8:145003646:C:T 13713_3086_1029_R->H 0.000199681 357 chr8:145003647:G:A 13713_3085_1029_R->C 0.000199681 357 chr8:145003655:G:C 13713_3077_1026_T->S 0.000199681 357 chr8:145003667:C:T 13713_3065_1022_C->Y 0.000199681 357 chr8:145003671:C:T 13713_3061_1021_A->T 0.000199681 357 chr8:145003685:C:T 13713_3047_1016_R->Q 0.00139776 357 chr8:145003701:C:G 13713_3031_1011_E->Q 0.000399361 357 chr8:145003894:G:C 13713_2912_971_P->R 0.000199681 357 chr8:145003909:G:A 13713_2897_966_A->V 0.000199681 357 chr8:145003924:C:T 13713_2882_961_R->Q 0.000199681 357 chr8:145004124:G:A 13713_2788_930_R->C 0.000199681 357 chr8:145004139:C:T 13713_2773_925_D->N 0.000998403 357 chr8:145004144:C:T 13713_2768_923_R->H 0.000399361 357 chr8:145004201:G:A 13713_2711_904_T->M 0.000998403 357 chr8:145004373:C:T 13713_2620_874_V->M 0.00179712 357 chr8:145004376:C:T 13713_2617_873_A->T 0.0357428 357 chr8:145004388:C:T 13713_2605_869_G->S 0.00139776 357 chr8:145004447:T:C 13713_2546_849_D->G 0.000399361 357 chr8:145004574:A:G 13713_2504_835_V->A 0.000199681 357 chr8:145004575:C:G 13713_2503_835_V->L 0.000399361 357 chr8:145004586:G:A 13713_2492_831_P->L 0.000199681 357 chr8:145004599:G:A,T 13713_2479_827_R->W 0.000599042 357 chr8:145004638:C:T 13713_2440_814_V->I 0.000199681 357 chr8:145004701:C:T 13713_2377_793_E->K 0.000599042 357 chr8:145005743:C:T 13713_2332_778_A->T 0.000399361 357 chr8:145005769:C:T 13713_2306_769_R->H 0.000599042 357 chr8:145005792:C:A 13713_2283_761_L->F 0.000199681 357 chr8:145005811:C:T 13713_2264_755_R->Q 0.000199681 357 chr8:145006143:T:C 13713_2209_737_I->V 0.00139776 357 chr8:145006145:C:G 13713_2207_736_C->S 0.000399361 357 chr8:145006187:G:A 13713_2165_722_A->V 0.000199681 357 chr8:145006317:G:A 13713_2132_711_P->L 0.000599042 357 chr8:145006338:C:T 13713_2111_704_R->Q 0.000199681 357 chr8:145006569:G:A 13713_2045_682_S->L 0.000199681 357 chr8:145006576:T:A 13713_2038_680_S->C 0.00119808 357 chr8:145006590:G:A 13713_2024_675_T->I 0.00159744 357 chr8:145006606:G:A 13713_2008_670_R->C 0.000199681 357 chr8:145006644:T:C 13713_1970_657_E->G 0.000199681 357 chr8:145006832:G:C 13713_1855_619_R->G 0.000199681 357 chr8:145006847:G:A 13713_1840_614_R->C 0.000199681 357 chr8:145006858:C:T 13713_1829_610_R->Q 0.000199681 357 chr8:145006859:G:A 13713_1828_610_R->W 0.000199681 357 chr8:145006971:C:T 13713_1796_599_R->Q 0.000599042 357 chr8:145006972:G:A 13713_1795_599_R->W 0.000199681 357 chr8:145006992:C:T 13713_1775_592_R->Q 0.00658946 357 chr8:145006993:G:A 13713_1774_592_R->W 0.000399361 357 chr8:145007069:C:A 13713_1698_566_E->D 0.00459265 357 chr8:145007085:C:T 13713_1682_561_R->H 0.000199681 357 chr8:145007109:G:A 13713_1658_553_A->V 0.000399361 357 chr8:145007139:G:A 13713_1628_543_S->F 0.000199681 357 chr8:145007152:C:T 13713_1615_539_E->K 0.000199681 357 chr8:145007158:G:A 13713_1609_537_R->C 0.000199681 357 chr8:145007187:G:A 13713_1580_527_A->V 0.23143 357 chr8:145007212:C:T 13713_1555_519_V->M 0.000199681 357 chr8:145007244:C:A 13713_1523_508_R->L 0.000798722 357 chr8:145007260:G:A 13713_1507_503_R->C 0.000798722 357 chr8:145007368:C:T 13713_1484_495_R->H 0.000199681 357 chr8:145007369:G:A 13713_1483_495_R->C 0.000199681 357 chr8:145007396:G:A 13713_1456_486_R->W 0.000399361 357 chr8:145007464:C:T 13713_1388_463_R->Q 0.000199681 357 chr8:145007500:G:A 13713_1352_451_A->V 0.000798722 357 chr8:145007512:C:T 13713_1340_447_R->Q 0.000199681 357 chr8:145008202:C:G 13713_1296_432_E->D 0.000199681 357 chr8:145008497:G:C 13713_1227_409_S->R 0.000998403 357 chr8:145008532:C:T 13713_1192_398_V->M 0.000399361 357 chr8:145008592:G:A 13713_1132_378_L->F 0.000199681 357 chr8:145008989:C:T 13713_1003_335_E->K 0.000199681 357 chr8:145009022:C:T 13713_970_324_A->T 0.000399361 357 chr8:145009036:C:T 13713_956_319_R->Q 0.00399361 357 chr8:145009038:C:T 13713_954_318_M->I 0.000199681 357 chr8:145009069:C:T 13713_923_308_R->Q 0.00399361 357 chr8:145009070:G:A 13713_922_308_R->W 0.000199681 357 chr8:145009402:G:A 13713_763_255_R->W 0.000998403 357 chr8:145009424:G:C 13713_741_247_D->E 0.000399361 357 chr8:145009426:C:A 13713_739_247_D->Y 0.000199681 357 chr8:145009449:C:T 13713_716_239_R->Q 0.000199681 357 chr8:145009450:G:A 13713_715_239_R->W 0.000599042 357 chr8:145010067:G:A 13713_632_211_T->I 0.000199681 357 chr8:145012407:G:A 13713_257_86_A->V 0.000199681 357 chr8:145012801:T:C 13713_253_85_K->E 0.000399361 357 chr8:145049405:C:T 13713_133_45_G->S 0.000998403 357 chr8:145049512:C:T 13713_26_9_R->Q 0.00559105 357 na12878 Variants: 357 chr8:144995494:C:T 13713_8564_2855_R->H 357 chr8:145001031:T:C 13713_4034_1345_H->R 357 chr8:145007187:G:A 13713_1580_527_A->V 357 chr8:144996029:A:G 13713_8029_2677_S->P 357 chr8:145001588:C:T 13713_3815_1272_R->Q 357 snyder Variants: 357 chr8:144994888:G:A 13713_9170_3057_A->V 357 chr8:144995494:C:T 13713_8564_2855_R->H 357 chr8:145001031:T:C 13713_4034_1345_H->R 357 chr8:145007187:G:A 13713_1580_527_A->V 357 chr8:144996029:A:G 13713_8029_2677_S->P 357 chr8:145001588:C:T 13713_3815_1272_R->Q 358 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000165392_ENST00000298139 gene_Name: WRN_HUMAN 358 list of pdbs: 358 3AAF pdb_description: 16-Feb-10 X-ray 1.900 Structure of wrn rqc domain bound to double-stranded DNA 358 2FC0 pdb_description: 25-Apr-06 X-ray 2.000 Wrn exonuclease, mn dgmp complex 358 2FBY pdb_description: 25-Apr-06 X-ray 2.000 Wrn exonuclease, eu complex 358 2FBX pdb_description: 25-Apr-06 X-ray 2.200 Wrn exonuclease, mg complex 358 2FBV pdb_description: 25-Apr-06 X-ray 2.400 Wrn exonuclease, mn complex 358 2FBT pdb_description: 25-Apr-06 X-ray 2.050 Wrn exonuclease 358 2E1F pdb_description: 12-Dec-06 X-ray 2.000 Crystal structure of the hrdc domain of human werner syndrom wrn 358 2E1E pdb_description: 12-Dec-06 X-ray 2.300 Crystal structure of the hrdc domain of human werner syndrom wrn 358 2DGZ pdb_description: 16-Sep-06 NMR 20 Solution structure of the helicase and rnase d c-terminal domain in werner syndrome atp-dependent helicase 358 2AXL pdb_description: 13-Dec-05 NMR 10 Solution structure of a multifunctional DNA- and protein- binding domain of human werner syndrome protein 358 Zimmer Variants: 358 chr8:30999280:G:T 4299_3222_1074_L->F;HUB=PPI;GNEG=Yes;GENE=WRN;CANG=[DNA_repair][cancer];CDSS=3 358 HGMD Variants: 358 chr8:30916743:C:G 4299_171_57_Y->* 358 chr8:30938648:C:T 4299_1105_369_R->* 358 chr8:30942720:T:A 4299_1389_463_Y->* 358 chr8:30945322:G:T 4299_1462_488_E->* 358 chr8:30945346:A:T 4299_1486_496_K->* 358 chr8:30946415:G:A 4299_1586_529_W->* 358 chr8:30969236:C:T 4299_2194_732_R->* 358 chr8:30969263:C:T 4299_2221_741_R->* 358 chr8:30969284:C:T 4299_2242_748_Q->* 358 chr8:30973879:G:A 4299_2283_761_W->* 358 chr8:30977891:C:T 4299_2581_861_Q->* 358 chr8:30982072:C:T 4299_2665_889_R->* 358 chr8:30989910:C:A 4299_2855_952_S->* 358 chr8:30989939:C:T 4299_2884_962_Q->* 358 chr8:30990014:C:T 4299_2959_987_R->* 358 chr8:31001075:G:T 4299_3319_1107_E->* 358 chr8:31004913:C:T 4299_3493_1165_Q->* 358 chr8:31004916:A:T 4299_3496_1166_K->* 358 chr8:31012221:C:T 4299_3769_1257_Q->* 358 chr8:31012241:C:G 4299_3789_1263_Y->* 358 chr8:31014977:C:T 4299_3913_1305_R->* 358 chr8:31015025:C:T 4299_3961_1321_R->* 358 chr8:31030535:C:T 4299_4216_1406_R->* 358 chr8:30921935:G:A 4299_340_114_V->I 358 chr8:30922450:A:T 4299_375_125_K->N 358 chr8:30922478:A:G 4299_403_135_K->E 358 chr8:30922502:G:C 4299_427_143_D->H 358 chr8:30924558:A:C 4299_514_172_T->P 358 chr8:30948048:G:A 4299_1720_574_G->R 358 chr8:30954294:C:T 4299_1909_637_R->W 358 chr8:30977810:C:T 4299_2500_834_R->C 358 chr8:30999280:G:T 4299_3222_1074_L->F 358 chr8:31004622:C:T 4299_3437_1146_S->L 358 chr8:31024604:T:G 4299_4049_1350_M->R 358 chr8:31024654:T:C 4299_4099_1367_C->R 358 oneKG Variants: 358 chr8:31014977:C:T 4299_3913_1305_R->* 0.000199681 358 chr8:31030535:C:T 4299_4216_1406_R->* 0.00539137 358 chr8:30916040:G:A 4299_77_26_C->Y 0.000199681 358 chr8:30916058:A:G 4299_95_32_K->R 0.00119808 358 chr8:30916676:T:C 4299_104_35_V->A 0.000199681 358 chr8:30916679:G:A 4299_107_36_R->Q 0.000798722 358 chr8:30916702:C:G 4299_130_44_L->V 0.000199681 358 chr8:30921824:G:C 4299_229_77_D->H 0.000199681 358 chr8:30921921:G:A 4299_326_109_C->Y 0.000399361 358 chr8:30921935:G:A 4299_340_114_V->I 0.0742812 358 chr8:30924654:C:T 4299_610_204_P->S 0.000199681 358 chr8:30925839:T:G 4299_720_240_N->K 0.000798722 358 chr8:30933799:C:T 4299_835_279_R->W 0.000399361 358 chr8:30938513:A:G 4299_970_324_T->A 0.00299521 358 chr8:30938520:G:A 4299_977_326_G->E 0.000199681 358 chr8:30938568:T:C 4299_1025_342_V->A 0.000199681 358 chr8:30938570:G:A 4299_1027_343_E->K 0.000798722 358 chr8:30938610:A:G 4299_1067_356_K->R 0.000399361 358 chr8:30938643:T:C 4299_1100_367_V->A 0.000199681 358 chr8:30938688:A:G 4299_1145_382_K->R 0.000199681 358 chr8:30938692:G:T 4299_1149_383_L->F 0.000399361 358 chr8:30938704:G:A 4299_1161_387_M->I 0.0469249 358 chr8:30938735:A:G 4299_1192_398_T->A 0.000199681 358 chr8:30938790:A:G 4299_1247_416_D->G 0.000199681 358 chr8:30941233:A:G 4299_1288_430_N->D 0.000199681 358 chr8:30941254:G:A 4299_1309_437_V->I 0.000399361 358 chr8:30942709:G:A 4299_1378_460_D->N 0.000798722 358 chr8:30942713:C:T 4299_1382_461_T->M 0.00139776 358 chr8:30945390:A:T 4299_1530_510_E->D 0.00379393 358 chr8:30945393:T:A 4299_1533_511_D->E 0.000199681 358 chr8:30948045:A:G 4299_1717_573_T->A 0.000399361 358 chr8:30948389:A:T 4299_1760_587_Y->F 0.000199681 358 chr8:30949351:C:G 4299_1835_612_S->C 0.00119808 358 chr8:30949356:A:G 4299_1840_614_I->V 0.000199681 358 chr8:30949398:C:G 4299_1882_628_L->V 0.00319489 358 chr8:30954292:A:G 4299_1907_636_Y->C 0.000199681 358 chr8:30954294:C:T 4299_1909_637_R->W 0.000599042 358 chr8:30954306:G:A 4299_1921_641_V->I 0.000199681 358 chr8:30958413:G:A 4299_2030_677_G->E 0.000199681 358 chr8:30958442:T:G 4299_2059_687_L->V 0.000798722 358 chr8:30969156:C:T 4299_2114_705_T->I 0.000199681 358 chr8:30969170:A:G 4299_2128_710_I->V 0.000599042 358 chr8:30969188:C:T 4299_2146_716_R->C 0.000199681 358 chr8:30969207:A:G 4299_2165_722_N->S 0.000199681 358 chr8:30969273:G:A 4299_2231_744_G->E 0.000199681 358 chr8:30973924:G:T 4299_2328_776_M->I 0.000199681 358 chr8:30973934:G:A 4299_2338_780_V->I 0.000998403 358 chr8:30973938:C:T 4299_2342_781_T->I 0.000599042 358 chr8:30974035:T:A 4299_2439_813_D->E 0.000199681 358 chr8:30977810:C:T 4299_2500_834_R->C 0.00179712 358 chr8:30977811:G:A 4299_2501_834_R->H 0.000199681 358 chr8:30977852:T:C 4299_2542_848_Y->H 0.000199681 358 chr8:30977879:C:T 4299_2569_857_R->C 0.000199681 358 chr8:30977919:C:T 4299_2609_870_P->L 0.000199681 358 chr8:30982048:A:C 4299_2641_881_T->P 0.000199681 358 chr8:30982426:T:G 4299_2735_912_I->S 0.000599042 358 chr8:30982442:T:A 4299_2751_917_F->L 0.000199681 358 chr8:30989992:T:G 4299_2937_979_I->M 0.00279553 358 chr8:30990002:A:G 4299_2947_983_I->V 0.000199681 358 chr8:30990005:T:A 4299_2950_984_L->I 0.00119808 358 chr8:30990015:G:A 4299_2960_987_R->Q 0.000399361 358 chr8:30998961:G:A 4299_2983_995_A->T 0.000798722 358 chr8:30999036:C:T 4299_3058_1020_R->C 0.000199681 358 chr8:30999037:G:A 4299_3059_1020_R->H 0.000399361 358 chr8:30999079:A:T 4299_3101_1034_Y->F 0.000599042 358 chr8:30999280:G:T 4299_3222_1074_L->F 0.496006 358 chr8:30999290:A:G 4299_3232_1078_S->G 0.000199681 358 chr8:31000144:C:T 4299_3236_1079_S->L 0.0203674 358 chr8:31004573:A:T 4299_3388_1130_M->L 0.000199681 358 chr8:31004594:G:A 4299_3409_1137_A->T 0.000199681 358 chr8:31004640:C:A 4299_3455_1152_T->N 0.000199681 358 chr8:31004941:C:T 4299_3521_1174_P->L 0.000199681 358 chr8:31007868:T:C 4299_3584_1195_V->A 0.000199681 358 chr8:31007876:G:A 4299_3592_1198_V->I 0.000199681 358 chr8:31007907:A:G 4299_3623_1208_K->R 0.000199681 358 chr8:31007960:A:G 4299_3676_1226_N->D 0.000199681 358 chr8:31012230:G:A 4299_3778_1260_A->T 0.000199681 358 chr8:31012233:A:G 4299_3781_1261_I->V 0.000199681 358 chr8:31012237:C:G 4299_3785_1262_T->R 0.000798722 358 chr8:31014894:C:G 4299_3830_1277_A->G 0.000199681 358 chr8:31014939:C:A 4299_3875_1292_S->Y 0.000798722 358 chr8:31014945:C:T 4299_3881_1294_A->V 0.000599042 358 chr8:31014957:G:T 4299_3893_1298_G->V 0.000199681 358 chr8:31014963:C:T 4299_3899_1300_P->L 0.000199681 358 chr8:31024556:T:G 4299_4001_1334_L->R 0.000199681 358 chr8:31024566:G:A 4299_4011_1337_M->I 0.000199681 358 chr8:31024570:G:A 4299_4015_1339_V->I 0.00479233 358 chr8:31024654:T:C 4299_4099_1367_C->R 0.192692 358 chr8:31024733:G:T 4299_4178_1393_G->V 0.000599042 358 chr8:31024735:A:G 4299_4180_1394_I->V 0.000199681 358 chr8:31030593:C:T 4299_4274_1425_T->M 0.000199681 358 na12878 Variants: 358 chr8:30921935:G:A 4299_340_114_V->I 358 snyder Variants: 358 chr8:31024654:T:C 4299_4099_1367_C->R 358 chr8:30999280:G:T 4299_3222_1074_L->F 359 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160339_ENST00000350339 gene_Name: FCN2_HUMAN 359 list of pdbs: 359 2J61 pdb_description: 23-Jan-07 X-ray 2.700 L-ficolin complexed to n-acetylglucosamine (formE C) 359 2J3U pdb_description: 23-Jan-07 X-ray 2.150 L-ficolin complexed to galactose 359 2J3O pdb_description: 23-Jan-07 X-ray 2.650 L-ficolin complexed to n-acetyl-d-glucosamine 359 2J3G pdb_description: 23-Jan-07 X-ray 2.500 L-ficolin 359 2J3F pdb_description: 23-Jan-07 X-ray 2.800 L-ficolin complexed to n-acetyl-d-galactosamine 359 2J2P pdb_description: 23-Jan-07 X-ray 2.800 L-ficolin complexed to n-acetyl-cystein (150mm) 359 2J1G pdb_description: 23-Jan-07 X-ray 1.950 L-ficolin complexed to n-acetyl-cystein 359 2J0Y pdb_description: 23-Jan-07 X-ray 2.350 L-ficolin complexed to b-1,3-d-glucan 359 2J0H pdb_description: 23-Jan-07 X-ray 2.850 L-ficolin complexed to acetyl-choline 359 2J0G pdb_description: 23-Jan-07 X-ray 2.850 L-ficolin complexed to n-acetyl-mannosamine 359 Zimmer Variants: 359 chr9:137779026:C:T 828_593_198_T->M;GNEG=Yes;GENE=FCN2;CDSS=3 359 HGMD Variants: 359 chr9:137779026:C:T 828_593_198_T->M 359 chr9:137779091:G:T 828_658_220_A->S 359 oneKG Variants: 359 chr9:137772678:A:T 828_11_4_D->V 0.00479233 359 chr9:137772679:C:A 828_12_4_D->E 0.000798722 359 chr9:137772716:C:T 828_49_17_L->F 0.000199681 359 chr9:137772750:C:T 828_83_28_A->V 0.000399361 359 chr9:137775199:A:G 828_152_51_N->S 0.000199681 359 chr9:137776597:G:C 828_166_56_E->Q 0.000199681 359 chr9:137777085:G:A 828_188_63_G->D 0.000599042 359 chr9:137777090:C:T 828_193_65_R->C 0.00479233 359 chr9:137777094:C:A 828_197_66_T->N 0.000199681 359 chr9:137777100:A:G 828_203_68_K->R 0.00179712 359 chr9:137777120:C:T 828_223_75_H->Y 0.00119808 359 chr9:137777132:G:A 828_235_79_G->S 0.00299521 359 chr9:137777163:G:A 828_266_89_R->Q 0.000199681 359 chr9:137777177:C:T 828_280_94_L->F 0.000199681 359 chr9:137777180:T:C 828_283_95_C->R 0.000199681 359 chr9:137777193:C:T 828_296_99_T->M 0.00139776 359 chr9:137777198:G:A 828_301_101_G->R 0.000399361 359 chr9:137777624:G:A 828_326_109_R->Q 0.00319489 359 chr9:137777627:G:A 828_329_110_R->K 0.000199681 359 chr9:137777666:C:T 828_368_123_T->M 0.000798722 359 chr9:137777668:T:C 828_370_124_Y->H 0.000199681 359 chr9:137778281:A:G 828_451_151_S->G 0.000399361 359 chr9:137778291:G:A 828_461_154_R->H 0.000399361 359 chr9:137778297:A:G 828_467_156_D->G 0.000199681 359 chr9:137778369:A:G 828_539_180_K->R 0.000199681 359 chr9:137778370:G:T 828_540_180_K->N 0.000399361 359 chr9:137778410:G:A 828_580_194_G->R 0.000199681 359 chr9:137779020:C:T 828_587_196_S->F 0.000199681 359 chr9:137779026:C:T 828_593_198_T->M 0.248802 359 chr9:137779091:G:T 828_658_220_A->S 0.155751 359 chr9:137779151:C:T 828_718_240_R->C 0.000199681 359 chr9:137779152:G:A 828_719_240_R->H 0.000399361 359 chr9:137779203:C:T 828_770_257_S->L 0.000399361 359 chr9:137779245:A:G 828_812_271_K->R 0.000199681 359 chr9:137779251:G:A 828_818_273_R->Q 0.00399361 359 na12878 Variants: 359 chr9:137779026:C:T 828_593_198_T->M 359 snyder Variants: 359 chr9:137779091:G:T 828_658_220_A->S 360 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000160339_ENST00000291744 gene_Name: FCN2_HUMAN 360 list of pdbs: 360 2J61 pdb_description: 23-Jan-07 X-ray 2.700 L-ficolin complexed to n-acetylglucosamine (formE C) 360 2J3U pdb_description: 23-Jan-07 X-ray 2.150 L-ficolin complexed to galactose 360 2J3O pdb_description: 23-Jan-07 X-ray 2.650 L-ficolin complexed to n-acetyl-d-glucosamine 360 2J3G pdb_description: 23-Jan-07 X-ray 2.500 L-ficolin 360 2J3F pdb_description: 23-Jan-07 X-ray 2.800 L-ficolin complexed to n-acetyl-d-galactosamine 360 2J2P pdb_description: 23-Jan-07 X-ray 2.800 L-ficolin complexed to n-acetyl-cystein (150mm) 360 2J1G pdb_description: 23-Jan-07 X-ray 1.950 L-ficolin complexed to n-acetyl-cystein 360 2J0Y pdb_description: 23-Jan-07 X-ray 2.350 L-ficolin complexed to b-1,3-d-glucan 360 2J0H pdb_description: 23-Jan-07 X-ray 2.850 L-ficolin complexed to acetyl-choline 360 2J0G pdb_description: 23-Jan-07 X-ray 2.850 L-ficolin complexed to n-acetyl-mannosamine 360 Zimmer Variants: 360 chr9:137779026:C:T 942_707_236_T->M 360 HGMD Variants: 360 chr9:137779026:C:T 942_707_236_T->M 360 chr9:137779091:G:T 942_772_258_A->S 360 oneKG Variants: 360 chr9:137774419:C:T 942_148_50_R->* 0.000399361 360 chr9:137772678:A:T 942_11_4_D->V 0.00479233 360 chr9:137772679:C:A 942_12_4_D->E 0.000798722 360 chr9:137772716:C:T 942_49_17_L->F 0.000199681 360 chr9:137772750:C:T 942_83_28_A->V 0.000399361 360 chr9:137774390:T:C 942_119_40_L->P 0.000199681 360 chr9:137774411:C:T 942_140_47_T->I 0.000798722 360 chr9:137774444:C:T 942_173_58_A->V 0.000199681 360 chr9:137775199:A:G 942_266_89_N->S 0.000199681 360 chr9:137776597:G:C 942_280_94_E->Q 0.000199681 360 chr9:137777085:G:A 942_302_101_G->D 0.000599042 360 chr9:137777090:C:T 942_307_103_R->C 0.00479233 360 chr9:137777094:C:A 942_311_104_T->N 0.000199681 360 chr9:137777100:A:G 942_317_106_K->R 0.00179712 360 chr9:137777120:C:T 942_337_113_H->Y 0.00119808 360 chr9:137777132:G:A 942_349_117_G->S 0.00299521 360 chr9:137777163:G:A 942_380_127_R->Q 0.000199681 360 chr9:137777177:C:T 942_394_132_L->F 0.000199681 360 chr9:137777180:T:C 942_397_133_C->R 0.000199681 360 chr9:137777193:C:T 942_410_137_T->M 0.00139776 360 chr9:137777198:G:A 942_415_139_G->R 0.000399361 360 chr9:137777624:G:A 942_440_147_R->Q 0.00319489 360 chr9:137777627:G:A 942_443_148_R->K 0.000199681 360 chr9:137777666:C:T 942_482_161_T->M 0.000798722 360 chr9:137777668:T:C 942_484_162_Y->H 0.000199681 360 chr9:137778281:A:G 942_565_189_S->G 0.000399361 360 chr9:137778291:G:A 942_575_192_R->H 0.000399361 360 chr9:137778297:A:G 942_581_194_D->G 0.000199681 360 chr9:137778369:A:G 942_653_218_K->R 0.000199681 360 chr9:137778370:G:T 942_654_218_K->N 0.000399361 360 chr9:137778410:G:A 942_694_232_G->R 0.000199681 360 chr9:137779020:C:T 942_701_234_S->F 0.000199681 360 chr9:137779026:C:T 942_707_236_T->M 0.248802 360 chr9:137779091:G:T 942_772_258_A->S 0.155751 360 chr9:137779151:C:T 942_832_278_R->C 0.000199681 360 chr9:137779152:G:A 942_833_278_R->H 0.000399361 360 chr9:137779203:C:T 942_884_295_S->L 0.000399361 360 chr9:137779245:A:G 942_926_309_K->R 0.000199681 360 chr9:137779251:G:A 942_932_311_R->Q 0.00399361 360 na12878 Variants: 360 chr9:137779026:C:T 942_707_236_T->M 360 snyder Variants: 360 chr9:137779091:G:T 942_772_258_A->S 361 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120156_ENST00000519097 gene_Name: TIE2_HUMAN 361 list of pdbs: 361 3L8P pdb_description: 06-Oct-10 X-ray 2.400 Crystal structure of cytoplasmic kinase domain of tie2 compl inhibitor cep11207 361 2WQB pdb_description: 03-Nov-09 X-ray 2.950 Structure of the tie2 kinase domain in complex with a thiazolopyrimidine inhibitor 361 2P4I pdb_description: 20-Mar-07 X-ray 2.500 Evolution of a highly selective and potent 2-(pyridin-2-yl)- 1,3,5-triazine tie-2 kinase inhibitor 361 2OSC pdb_description: 20-Mar-07 X-ray 2.800 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 361 2OO8 pdb_description: 20-Mar-07 X-ray 2.200 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 361 2GY5 pdb_description: 06-Jun-06 X-ray 2.900 Tie2 ligand-binding domain crystal structure 361 1FVR pdb_description: 20-Sep-01 X-ray 2.200 Tie2 kinase domain 361 3BEA pdb_description: 15-Jul-08 X-ray 2.020 Cfms tyrosine kinase (tie2 kid) in complex with a pyrimidinopyridone inhibitor 361 2GY7 pdb_description: 06-Jun-06 X-ray 3.700 Angiopoietin-2/tie2 complex crystal structure 361 4K0V pdb_description: 08-May-13 X-ray 4.510 Structural basis for angiopoietin-1 mediated signaling initi 361 Zimmer Variants: 361 chr9:27183463:A:C 2931_596_199_Q->P;HUB=PPI;GENE=TEK;CDSS=3 361 chr9:27197486:G:T 2931_1357_453_V->L;HUB=PPI;GENE=TEK;CDSS=3 361 HGMD Variants: 361 chr9:27206760:C:T 2931_2101_701_R->W 361 chr9:27212708:A:G 2931_2246_749_Y->C 361 chr9:27212708:A:C 2931_2246_749_Y->S 361 chr9:27212762:G:A 2931_2300_767_R->H 361 chr9:27212770:C:T 2931_2308_770_R->C 361 chr9:27212773:G:T 2931_2311_771_V->L 361 chr9:27212791:G:T 2931_2329_777_A->S 361 chr9:27228303:G:C 2931_2856_952_K->N 361 oneKG Variants: 361 chr9:27109638:C:G 2931_50_17_S->C 0.000199681 361 chr9:27168507:G:T 2931_67_23_A->S 0.000199681 361 chr9:27168517:C:G 2931_77_26_T->S 0.000199681 361 chr9:27168571:T:C 2931_131_44_I->T 0.0351438 361 chr9:27169499:G:A 2931_188_63_R->Q 0.000199681 361 chr9:27169601:C:T 2931_290_97_S->L 0.000199681 361 chr9:27172662:C:T 2931_365_122_A->V 0.000199681 361 chr9:27173235:C:T 2931_464_155_T->M 0.000199681 361 chr9:27173294:T:C 2931_523_175_F->L 0.000199681 361 chr9:27183463:A:C 2931_596_199_Q->P 0.010184 361 chr9:27183466:G:T 2931_599_200_R->M 0.000199681 361 chr9:27183514:G:A 2931_647_216_S->N 0.000199681 361 chr9:27183540:G:A 2931_673_225_A->T 0.000199681 361 chr9:27183598:C:T 2931_731_244_T->I 0.0129792 361 chr9:27185499:A:G 2931_758_253_H->R 0.000599042 361 chr9:27185537:C:T 2931_796_266_R->W 0.000199681 361 chr9:27185613:A:G 2931_872_291_N->S 0.00119808 361 chr9:27190545:A:G 2931_905_302_N->S 0.00559105 361 chr9:27190625:A:G 2931_985_329_I->V 0.000199681 361 chr9:27190635:A:G 2931_995_332_K->R 0.000199681 361 chr9:27190655:G:A 2931_1015_339_V->I 0.0786741 361 chr9:27192504:A:G 2931_1066_356_T->A 0.000798722 361 chr9:27192562:G:A 2931_1124_375_R->H 0.000599042 361 chr9:27192600:C:T 2931_1162_388_R->C 0.000199681 361 chr9:27192618:A:G 2931_1180_394_I->V 0.000399361 361 chr9:27197394:G:C 2931_1265_422_S->T 0.000199681 361 chr9:27197486:G:T 2931_1357_453_V->L 0.033746 361 chr9:27197588:C:T 2931_1459_487_L->F 0.000599042 361 chr9:27202886:A:G 2931_1537_513_T->A 0.000199681 361 chr9:27202954:C:A 2931_1605_535_D->E 0.000199681 361 chr9:27202986:C:T 2931_1637_546_T->I 0.000199681 361 chr9:27203078:G:A 2931_1729_577_A->T 0.0277556 361 chr9:27203115:A:G 2931_1766_589_Q->R 0.000199681 361 chr9:27204915:C:T 2931_1775_592_A->V 0.000199681 361 chr9:27204924:G:C 2931_1784_595_G->A 0.000199681 361 chr9:27204927:G:C 2931_1787_596_G->A 0.000599042 361 chr9:27204993:C:T 2931_1853_618_A->V 0.000199681 361 chr9:27205004:A:G 2931_1864_622_I->V 0.000199681 361 chr9:27205029:T:A 2931_1889_630_V->E 0.000199681 361 chr9:27206580:A:T 2931_1921_641_R->W 0.000199681 361 chr9:27206658:A:G 2931_1999_667_I->V 0.000199681 361 chr9:27206698:A:G 2931_2039_680_D->G 0.000199681 361 chr9:27206739:C:T 2931_2080_694_R->C 0.000199681 361 chr9:27206740:G:A 2931_2081_694_R->H 0.000199681 361 chr9:27209184:C:T 2931_2197_733_H->Y 0.000199681 361 chr9:27212861:T:G 2931_2399_800_V->G 0.000199681 361 chr9:27213536:G:T 2931_2488_830_A->S 0.000199681 361 chr9:27213593:A:G 2931_2545_849_M->V 0.000199681 361 chr9:27220102:G:C 2931_2715_905_Q->H 0.000199681 361 chr9:27228214:A:G 2931_2767_923_M->V 0.000199681 361 chr9:27228230:G:A 2931_2783_928_R->Q 0.000199681 361 chr9:27228267:A:G 2931_2820_940_I->M 0.000199681 361 chr9:27229223:C:T 2931_2924_975_A->V 0.000199681 361 na12878 Variants: 361 chr9:27183463:A:C 2931_596_199_Q->P 361 snyder Variants: 361 chr9:27183463:A:C 2931_596_199_Q->P 361 chr9:27197486:G:T 2931_1357_453_V->L 362 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120156_ENST00000380036 gene_Name: TIE2_HUMAN 362 list of pdbs: 362 3L8P pdb_description: 06-Oct-10 X-ray 2.400 Crystal structure of cytoplasmic kinase domain of tie2 compl inhibitor cep11207 362 2WQB pdb_description: 03-Nov-09 X-ray 2.950 Structure of the tie2 kinase domain in complex with a thiazolopyrimidine inhibitor 362 2P4I pdb_description: 20-Mar-07 X-ray 2.500 Evolution of a highly selective and potent 2-(pyridin-2-yl)- 1,3,5-triazine tie-2 kinase inhibitor 362 2OSC pdb_description: 20-Mar-07 X-ray 2.800 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 362 2OO8 pdb_description: 20-Mar-07 X-ray 2.200 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 362 2GY5 pdb_description: 06-Jun-06 X-ray 2.900 Tie2 ligand-binding domain crystal structure 362 1FVR pdb_description: 20-Sep-01 X-ray 2.200 Tie2 kinase domain 362 3BEA pdb_description: 15-Jul-08 X-ray 2.020 Cfms tyrosine kinase (tie2 kid) in complex with a pyrimidinopyridone inhibitor 362 2GY7 pdb_description: 06-Jun-06 X-ray 3.700 Angiopoietin-2/tie2 complex crystal structure 362 4K0V pdb_description: 08-May-13 X-ray 4.510 Structural basis for angiopoietin-1 mediated signaling initi 362 Zimmer Variants: 362 chr9:27183463:A:C 3375_1037_346_Q->P 362 chr9:27197486:G:T 3375_1798_600_V->L 362 HGMD Variants: 362 chr9:27206760:C:T 3375_2545_849_R->W 362 chr9:27212708:A:G 3375_2690_897_Y->C 362 chr9:27212708:A:C 3375_2690_897_Y->S 362 chr9:27212762:G:A 3375_2744_915_R->H 362 chr9:27212770:C:T 3375_2752_918_R->C 362 chr9:27212773:G:T 3375_2755_919_V->L 362 chr9:27212791:G:T 3375_2773_925_A->S 362 chr9:27228303:G:C 3375_3300_1100_K->N 362 oneKG Variants: 362 chr9:27109638:C:G 3375_50_17_S->C 0.000199681 362 chr9:27157913:C:T 3375_137_46_A->V 0.000199681 362 chr9:27157969:A:G 3375_193_65_M->V 0.000199681 362 chr9:27157988:C:T 3375_212_71_P->L 0.000199681 362 chr9:27158008:G:A 3375_232_78_V->M 0.000199681 362 chr9:27158009:T:C 3375_233_78_V->A 0.000998403 362 chr9:27158085:A:C 3375_309_103_E->D 0.000599042 362 chr9:27168507:G:T 3375_379_127_A->S 0.000199681 362 chr9:27168517:C:G 3375_389_130_T->S 0.000199681 362 chr9:27168571:T:C 3375_443_148_I->T 0.0351438 362 chr9:27169499:G:A 3375_500_167_R->Q 0.000199681 362 chr9:27169601:C:T 3375_602_201_S->L 0.000199681 362 chr9:27172662:C:T 3375_677_226_A->V 0.000199681 362 chr9:27173235:C:T 3375_776_259_T->M 0.000199681 362 chr9:27173294:T:C 3375_835_279_F->L 0.000199681 362 chr9:27180247:C:T 3375_911_304_P->L 0.000399361 362 chr9:27183463:A:C 3375_1037_346_Q->P 0.010184 362 chr9:27183466:G:T 3375_1040_347_R->M 0.000199681 362 chr9:27183514:G:A 3375_1088_363_S->N 0.000199681 362 chr9:27183540:G:A 3375_1114_372_A->T 0.000199681 362 chr9:27183598:C:T 3375_1172_391_T->I 0.0129792 362 chr9:27185499:A:G 3375_1199_400_H->R 0.000599042 362 chr9:27185537:C:T 3375_1237_413_R->W 0.000199681 362 chr9:27185613:A:G 3375_1313_438_N->S 0.00119808 362 chr9:27190545:A:G 3375_1346_449_N->S 0.00559105 362 chr9:27190625:A:G 3375_1426_476_I->V 0.000199681 362 chr9:27190635:A:G 3375_1436_479_K->R 0.000199681 362 chr9:27190655:G:A 3375_1456_486_V->I 0.0786741 362 chr9:27192504:A:G 3375_1507_503_T->A 0.000798722 362 chr9:27192562:G:A 3375_1565_522_R->H 0.000599042 362 chr9:27192600:C:T 3375_1603_535_R->C 0.000199681 362 chr9:27192618:A:G 3375_1621_541_I->V 0.000399361 362 chr9:27197394:G:C 3375_1706_569_S->T 0.000199681 362 chr9:27197486:G:T 3375_1798_600_V->L 0.033746 362 chr9:27197588:C:T 3375_1900_634_L->F 0.000599042 362 chr9:27202886:A:G 3375_1978_660_T->A 0.000199681 362 chr9:27202954:C:A 3375_2046_682_D->E 0.000199681 362 chr9:27202986:C:T 3375_2078_693_T->I 0.000199681 362 chr9:27203078:G:A 3375_2170_724_A->T 0.0277556 362 chr9:27203115:A:G 3375_2207_736_Q->R 0.000199681 362 chr9:27204915:C:T 3375_2216_739_A->V 0.000199681 362 chr9:27204924:G:C 3375_2225_742_G->A 0.000199681 362 chr9:27204927:G:C 3375_2228_743_G->A 0.000599042 362 chr9:27204993:C:T 3375_2294_765_A->V 0.000199681 362 chr9:27205004:A:G 3375_2305_769_I->V 0.000199681 362 chr9:27205029:T:A 3375_2330_777_V->E 0.000199681 362 chr9:27206580:A:T 3375_2365_789_R->W 0.000199681 362 chr9:27206658:A:G 3375_2443_815_I->V 0.000199681 362 chr9:27206698:A:G 3375_2483_828_D->G 0.000199681 362 chr9:27206739:C:T 3375_2524_842_R->C 0.000199681 362 chr9:27206740:G:A 3375_2525_842_R->H 0.000199681 362 chr9:27209184:C:T 3375_2641_881_H->Y 0.000199681 362 chr9:27212861:T:G 3375_2843_948_V->G 0.000199681 362 chr9:27213536:G:T 3375_2932_978_A->S 0.000199681 362 chr9:27213593:A:G 3375_2989_997_M->V 0.000199681 362 chr9:27220102:G:C 3375_3159_1053_Q->H 0.000199681 362 chr9:27228214:A:G 3375_3211_1071_M->V 0.000199681 362 chr9:27228230:G:A 3375_3227_1076_R->Q 0.000199681 362 chr9:27228267:A:G 3375_3264_1088_I->M 0.000199681 362 chr9:27229223:C:T 3375_3368_1123_A->V 0.000199681 362 na12878 Variants: 362 chr9:27183463:A:C 3375_1037_346_Q->P 362 snyder Variants: 362 chr9:27183463:A:C 3375_1037_346_Q->P 362 chr9:27197486:G:T 3375_1798_600_V->L 363 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120156_ENST00000406359 gene_Name: TIE2_HUMAN 363 list of pdbs: 363 3L8P pdb_description: 06-Oct-10 X-ray 2.400 Crystal structure of cytoplasmic kinase domain of tie2 compl inhibitor cep11207 363 2WQB pdb_description: 03-Nov-09 X-ray 2.950 Structure of the tie2 kinase domain in complex with a thiazolopyrimidine inhibitor 363 2P4I pdb_description: 20-Mar-07 X-ray 2.500 Evolution of a highly selective and potent 2-(pyridin-2-yl)- 1,3,5-triazine tie-2 kinase inhibitor 363 2OSC pdb_description: 20-Mar-07 X-ray 2.800 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 363 2OO8 pdb_description: 20-Mar-07 X-ray 2.200 Synthesis, structural analysis, and sar studies of triazine derivatives as potent, selective tie-2 inhibitors 363 2GY5 pdb_description: 06-Jun-06 X-ray 2.900 Tie2 ligand-binding domain crystal structure 363 1FVR pdb_description: 20-Sep-01 X-ray 2.200 Tie2 kinase domain 363 3BEA pdb_description: 15-Jul-08 X-ray 2.020 Cfms tyrosine kinase (tie2 kid) in complex with a pyrimidinopyridone inhibitor 363 2GY7 pdb_description: 06-Jun-06 X-ray 3.700 Angiopoietin-2/tie2 complex crystal structure 363 4K0V pdb_description: 08-May-13 X-ray 4.510 Structural basis for angiopoietin-1 mediated signaling initi 363 Zimmer Variants: 363 chr9:27183463:A:C 3246_908_303_Q->P 363 chr9:27197486:G:T 3246_1669_557_V->L 363 HGMD Variants: 363 chr9:27206760:C:T 3246_2416_806_R->W 363 chr9:27212708:A:G 3246_2561_854_Y->C 363 chr9:27212708:A:C 3246_2561_854_Y->S 363 chr9:27212762:G:A 3246_2615_872_R->H 363 chr9:27212770:C:T 3246_2623_875_R->C 363 chr9:27212773:G:T 3246_2626_876_V->L 363 chr9:27212791:G:T 3246_2644_882_A->S 363 chr9:27228303:G:C 3246_3171_1057_K->N 363 oneKG Variants: 363 chr9:27109638:C:G 3246_50_17_S->C 0.000199681 363 chr9:27157913:C:T 3246_137_46_A->V 0.000199681 363 chr9:27157969:A:G 3246_193_65_M->V 0.000199681 363 chr9:27157988:C:T 3246_212_71_P->L 0.000199681 363 chr9:27158008:G:A 3246_232_78_V->M 0.000199681 363 chr9:27158009:T:C 3246_233_78_V->A 0.000998403 363 chr9:27158085:A:C 3246_309_103_E->D 0.000599042 363 chr9:27168507:G:T 3246_379_127_A->S 0.000199681 363 chr9:27168517:C:G 3246_389_130_T->S 0.000199681 363 chr9:27168571:T:C 3246_443_148_I->T 0.0351438 363 chr9:27169499:G:A 3246_500_167_R->Q 0.000199681 363 chr9:27169601:C:T 3246_602_201_S->L 0.000199681 363 chr9:27172662:C:T 3246_677_226_A->V 0.000199681 363 chr9:27173235:C:T 3246_776_259_T->M 0.000199681 363 chr9:27173294:T:C 3246_835_279_F->L 0.000199681 363 chr9:27183463:A:C 3246_908_303_Q->P 0.010184 363 chr9:27183466:G:T 3246_911_304_R->M 0.000199681 363 chr9:27183514:G:A 3246_959_320_S->N 0.000199681 363 chr9:27183540:G:A 3246_985_329_A->T 0.000199681 363 chr9:27183598:C:T 3246_1043_348_T->I 0.0129792 363 chr9:27185499:A:G 3246_1070_357_H->R 0.000599042 363 chr9:27185537:C:T 3246_1108_370_R->W 0.000199681 363 chr9:27185613:A:G 3246_1184_395_N->S 0.00119808 363 chr9:27190545:A:G 3246_1217_406_N->S 0.00559105 363 chr9:27190625:A:G 3246_1297_433_I->V 0.000199681 363 chr9:27190635:A:G 3246_1307_436_K->R 0.000199681 363 chr9:27190655:G:A 3246_1327_443_V->I 0.0786741 363 chr9:27192504:A:G 3246_1378_460_T->A 0.000798722 363 chr9:27192562:G:A 3246_1436_479_R->H 0.000599042 363 chr9:27192600:C:T 3246_1474_492_R->C 0.000199681 363 chr9:27192618:A:G 3246_1492_498_I->V 0.000399361 363 chr9:27197394:G:C 3246_1577_526_S->T 0.000199681 363 chr9:27197486:G:T 3246_1669_557_V->L 0.033746 363 chr9:27197588:C:T 3246_1771_591_L->F 0.000599042 363 chr9:27202886:A:G 3246_1849_617_T->A 0.000199681 363 chr9:27202954:C:A 3246_1917_639_D->E 0.000199681 363 chr9:27202986:C:T 3246_1949_650_T->I 0.000199681 363 chr9:27203078:G:A 3246_2041_681_A->T 0.0277556 363 chr9:27203115:A:G 3246_2078_693_Q->R 0.000199681 363 chr9:27204915:C:T 3246_2087_696_A->V 0.000199681 363 chr9:27204924:G:C 3246_2096_699_G->A 0.000199681 363 chr9:27204927:G:C 3246_2099_700_G->A 0.000599042 363 chr9:27204993:C:T 3246_2165_722_A->V 0.000199681 363 chr9:27205004:A:G 3246_2176_726_I->V 0.000199681 363 chr9:27205029:T:A 3246_2201_734_V->E 0.000199681 363 chr9:27206580:A:T 3246_2236_746_R->W 0.000199681 363 chr9:27206658:A:G 3246_2314_772_I->V 0.000199681 363 chr9:27206698:A:G 3246_2354_785_D->G 0.000199681 363 chr9:27206739:C:T 3246_2395_799_R->C 0.000199681 363 chr9:27206740:G:A 3246_2396_799_R->H 0.000199681 363 chr9:27209184:C:T 3246_2512_838_H->Y 0.000199681 363 chr9:27212861:T:G 3246_2714_905_V->G 0.000199681 363 chr9:27213536:G:T 3246_2803_935_A->S 0.000199681 363 chr9:27213593:A:G 3246_2860_954_M->V 0.000199681 363 chr9:27220102:G:C 3246_3030_1010_Q->H 0.000199681 363 chr9:27228214:A:G 3246_3082_1028_M->V 0.000199681 363 chr9:27228230:G:A 3246_3098_1033_R->Q 0.000199681 363 chr9:27228267:A:G 3246_3135_1045_I->M 0.000199681 363 chr9:27229223:C:T 3246_3239_1080_A->V 0.000199681 363 na12878 Variants: 363 chr9:27183463:A:C 3246_908_303_Q->P 363 snyder Variants: 363 chr9:27183463:A:C 3246_908_303_Q->P 363 chr9:27197486:G:T 3246_1669_557_V->L 364 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169071_ENST00000375708 gene_Name: ROR2_HUMAN 364 list of pdbs: 364 4GT4 pdb_description: 26-Sep-12 X-ray 2.410 Structure of unliganded, inactive ror2 kinase domain 364 3ZZW pdb_description: 14-Sep-11 X-ray 2.900 Crystal structure of the kinase domain of ror2 364 Zimmer Variants: 364 chr9:94486321:C:T 2832_2455_819_V->I;GNEG=Yes;GENE=ROR2;CDSS=3 364 HGMD Variants: 364 chr9:94486498:G:A 2832_2278_760_Q->* 364 chr9:94486503:G:T 2832_2273_758_S->* 364 chr9:94486511:G:T 2832_2265_755_Y->* 364 chr9:94486529:C:T 2832_2247_749_W->* 364 chr9:94486530:C:T 2832_2246_749_W->* 364 chr9:94486616:C:T 2832_2160_720_W->* 364 chr9:94487272:G:A 2832_1504_502_Q->* 364 chr9:94488885:G:A 2832_1324_442_R->* 364 chr9:94489020:G:A 2832_1189_397_R->* 364 chr9:94499682:G:A 2832_613_205_R->* 364 chr9:94519662:G:A 2832_355_119_R->* 364 chr9:94486916:A:T 2832_1860_620_N->K 364 chr9:94493279:G:A 2832_1096_366_R->W 364 chr9:94495527:G:A 2832_814_272_R->C 364 chr9:94495611:G:A 2832_730_244_R->W 364 chr9:94495673:C:T 2832_668_223_C->Y 364 chr9:94499721:A:C 2832_574_192_Y->D 364 chr9:94499730:G:A 2832_565_189_R->W 364 chr9:94499745:G:A 2832_550_184_R->C 364 chr9:94499750:C:T 2832_545_182_C->Y 364 chr9:94519790:C:T 2832_227_76_G->D 364 oneKG Variants: 364 chr9:94485971:G:C 2832_2805_935_D->E 0.00199681 364 chr9:94485985:T:C 2832_2791_931_T->A 0.000199681 364 chr9:94485994:C:G 2832_2782_928_D->H 0.000199681 364 chr9:94486078:C:T 2832_2698_900_A->T 0.000399361 364 chr9:94486092:T:C 2832_2684_895_D->G 0.000199681 364 chr9:94486156:C:T 2832_2620_874_V->I 0.000599042 364 chr9:94486184:A:C 2832_2592_864_S->R 0.000199681 364 chr9:94486258:C:T 2832_2518_840_V->M 0.000199681 364 chr9:94486315:C:T 2832_2461_821_V->I 0.000599042 364 chr9:94486321:C:T 2832_2455_819_V->I 0.251997 364 chr9:94486381:G:A 2832_2395_799_P->S 0.000399361 364 chr9:94486423:G:A 2832_2353_785_R->C 0.000199681 364 chr9:94486491:G:A 2832_2285_762_S->L 0.000998403 364 chr9:94486525:T:C 2832_2251_751_N->D 0.000199681 364 chr9:94486527:C:T 2832_2249_750_G->D 0.000199681 364 chr9:94486549:G:A 2832_2227_743_H->Y 0.000199681 364 chr9:94486564:G:A 2832_2212_738_R->C 0.000998403 364 chr9:94486633:C:T 2832_2143_715_D->N 0.000199681 364 chr9:94486667:C:A 2832_2109_703_E->D 0.000998403 364 chr9:94486693:C:T 2832_2083_695_G->R 0.0101837 364 chr9:94486714:A:C 2832_2062_688_Y->D 0.000399361 364 chr9:94486718:G:C 2832_2058_686_F->L 0.000599042 364 chr9:94486770:A:G 2832_2006_669_F->S 0.000199681 364 chr9:94486806:C:T 2832_1970_657_R->H 0.000199681 364 chr9:94486821:G:A 2832_1955_652_S->L 0.000199681 364 chr9:94486942:C:G 2832_1834_612_V->L 0.00119808 364 chr9:94487012:C:G 2832_1764_588_E->D 0.000199681 364 chr9:94487020:C:T 2832_1756_586_A->T 0.00139776 364 chr9:94487034:C:T 2832_1742_581_R->H 0.000399361 364 chr9:94487040:T:A 2832_1736_579_D->V 0.000798722 364 chr9:94487056:C:A 2832_1720_574_V->L 0.000199681 364 chr9:94487064:T:C 2832_1712_571_H->R 0.00199681 364 chr9:94487074:G:A 2832_1702_568_R->C 0.000199681 364 chr9:94487077:T:A 2832_1699_567_M->L 0.000599042 364 chr9:94487089:C:T 2832_1687_563_E->K 0.000199681 364 chr9:94487101:C:T 2832_1675_559_G->S 0.000399361 364 chr9:94487106:G:A 2832_1670_557_S->L 0.000798722 364 chr9:94487109:C:G 2832_1667_556_C->S 0.000199681 364 chr9:94487134:G:A 2832_1642_548_P->S 0.014377 364 chr9:94487187:C:T 2832_1589_530_R->Q 0.00139776 364 chr9:94487193:C:T 2832_1583_528_R->Q 0.000798722 364 chr9:94487211:C:T 2832_1565_522_R->Q 0.000199681 364 chr9:94487224:G:A 2832_1552_518_R->W 0.000199681 364 chr9:94487281:C:G 2832_1495_499_E->Q 0.000399361 364 chr9:94487296:C:T 2832_1480_494_G->S 0.000399361 364 chr9:94488948:G:C 2832_1261_421_L->V 0.000199681 364 chr9:94488972:C:T 2832_1237_413_A->T 0.000199681 364 chr9:94493201:G:A 2832_1174_392_P->S 0.000199681 364 chr9:94493204:C:T 2832_1171_391_V->I 0.000199681 364 chr9:94493245:C:A 2832_1130_377_C->F 0.000399361 364 chr9:94493293:C:T 2832_1082_361_G->E 0.000199681 364 chr9:94493296:C:T 2832_1079_360_G->E 0.000199681 364 chr9:94493297:C:G 2832_1078_360_G->R 0.000199681 364 chr9:94493321:T:C 2832_1054_352_S->G 0.000599042 364 chr9:94493330:G:C 2832_1045_349_H->D 0.0181709 364 chr9:94493389:C:T 2832_986_329_S->N 0.000998403 364 chr9:94495406:C:T 2832_935_312_R->H 0.00179712 364 chr9:94495572:C:T 2832_769_257_E->K 0.000199681 364 chr9:94495608:T:C 2832_733_245_T->A 0.355032 364 chr9:94495610:C:T 2832_731_244_R->Q 0.000599042 364 chr9:94495611:G:A 2832_730_244_R->W 0.000998403 364 chr9:94495620:C:T 2832_721_241_A->T 0.000199681 364 chr9:94495667:T:A 2832_674_225_Q->L 0.000199681 364 chr9:94495688:T:C 2832_653_218_H->R 0.000199681 364 chr9:94495691:G:A 2832_650_217_T->M 0.000199681 364 chr9:94499757:T:C 2832_538_180_I->V 0.000399361 364 chr9:94518362:T:C 2832_485_162_H->R 0.000798722 364 chr9:94518380:G:A 2832_467_156_P->L 0.000199681 364 chr9:94519643:A:G 2832_374_125_L->P 0.000199681 364 chr9:94519700:G:A 2832_317_106_P->L 0.00179712 364 chr9:94519719:C:T 2832_298_100_A->T 0.000199681 364 chr9:94538052:C:A 2832_146_49_G->V 0.000199681 364 chr9:94712230:C:A 2832_16_6_A->S 0.000199681 364 chr9:94712239:G:A 2832_7_3_R->W 0.00319489 364 na12878 Variants: 364 chr9:94486321:C:T 2832_2455_819_V->I 364 chr9:94495608:T:C 2832_733_245_T->A 364 snyder Variants: 364 chr9:94486321:C:T 2832_2455_819_V->I 364 chr9:94495608:T:C 2832_733_245_T->A 365 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134216_ENST00000369740 gene_Name: CHIA_HUMAN 365 list of pdbs: 365 3RME pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 5 365 3RM9 pdb_description: 24-Aug-11 X-ray 2.100 Amcase in complex with compound 3 365 3RM8 pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 2 365 3RM4 pdb_description: 24-Aug-11 X-ray 1.900 Amcase in complex with compound 1 365 3FY1 pdb_description: 10-Mar-09 X-ray 1.700 The acidic mammalian chitinase catalytic domain in complex with methylallosamidin 365 3FXY pdb_description: 10-Mar-09 X-ray 2.000 Acidic mammalian chinase, catalytic domain 365 2YBU pdb_description: 08-Jun-11 X-ray 2.250 Crystal structure of human acidic chitinase in complex with bisdionin f 365 2YBT pdb_description: 08-Jun-11 X-ray 2.220 Crystal structure of human acidic chitinase in complex with bisdionin c 365 Zimmer Variants: 365 chr1:111854895:G:A 1431_139_47_D->N;GENE=CHIA;CDSS=2 365 chr1:111854938:G:T 1431_182_61_R->M;GENE=CHIA;CDSS=2 365 chr1:111861974:T:C 1431_1061_354_F->S 365 chr1:111862042:T:C 1431_1129_377_F->L 365 chr1:111854889:A:G 1431_133_45_N->D;GENE=CHIA;CDSS=1 365 chr1:111857951:A:G 1431_374_125_K->R 365 chr1:111861841:A:G 1431_1015_339_I->V 365 chr1:111862952:T:G 1431_1295_432_V->G 365 HGMD Variants: 365 chr1:111854889:A:G 1431_133_45_N->D 365 chr1:111854895:G:A 1431_139_47_D->N 365 chr1:111854938:G:T 1431_182_61_R->M 365 chr1:111857208:G:A 1431_304_102_G->R 365 chr1:111857951:A:G 1431_374_125_K->R 365 oneKG Variants: 365 chr1:111857201:G:A 1431_297_99_W->* 0.000599042 365 chr1:111860327:G:T 1431_505_169_E->* 0.0061901 365 chr1:111862029:C:A 1431_1116_372_C->* 0.000199681 365 chr1:111854859:C:T 1431_103_35_R->W 0.0115815 365 chr1:111854875:G:A 1431_119_40_R->H 0.000199681 365 chr1:111854889:A:G 1431_133_45_N->D 0.108626 365 chr1:111854895:G:A 1431_139_47_D->N 0.107827 365 chr1:111854925:G:A 1431_169_57_A->T 0.00159744 365 chr1:111854938:G:T 1431_182_61_R->M 0.107827 365 chr1:111854955:A:T 1431_199_67_T->S 0.000199681 365 chr1:111857175:A:C 1431_271_91_K->Q 0.000199681 365 chr1:111857208:G:A 1431_304_102_G->R 0.129593 365 chr1:111857923:C:T 1431_346_116_R->C 0.000199681 365 chr1:111857924:G:A 1431_347_116_R->H 0.00399361 365 chr1:111857951:A:G 1431_374_125_K->R 0.0660942 365 chr1:111857964:G:T 1431_387_129_Q->H 0.000399361 365 chr1:111857977:G:A 1431_400_134_G->R 0.000199681 365 chr1:111858010:C:T 1431_433_145_R->C 0.000199681 365 chr1:111858014:G:C 1431_437_146_G->A 0.000199681 365 chr1:111858017:G:C 1431_440_147_S->T 0.000199681 365 chr1:111858020:C:T 1431_443_148_P->L 0.000199681 365 chr1:111860309:C:T 1431_487_163_R->C 0.000199681 365 chr1:111860338:G:C 1431_516_172_Q->H 0.000199681 365 chr1:111860339:A:T 1431_517_173_I->F 0.000599042 365 chr1:111860352:G:C 1431_530_177_R->T 0.000199681 365 chr1:111860402:G:A 1431_580_194_G->S 0.000199681 365 chr1:111860639:G:A 1431_637_213_D->N 0.000199681 365 chr1:111860717:G:A 1431_715_239_A->T 0.000399361 365 chr1:111860723:C:G 1431_721_241_L->V 0.000199681 365 chr1:111860726:A:C 1431_724_242_N->H 0.000199681 365 chr1:111861142:A:T 1431_757_253_N->Y 0.000199681 365 chr1:111861196:T:G 1431_811_271_F->V 0.000798722 365 chr1:111861217:A:G 1431_832_278_N->D 0.000399361 365 chr1:111861221:C:T 1431_836_279_T->I 0.000199681 365 chr1:111861233:C:T 1431_848_283_A->V 0.000199681 365 chr1:111861235:C:T 1431_850_284_P->S 0.000199681 365 chr1:111861248:C:T 1431_863_288_A->V 0.000399361 365 chr1:111861256:G:T 1431_871_291_A->S 0.000199681 365 chr1:111861268:G:A 1431_883_295_A->T 0.0061901 365 chr1:111861274:G:A 1431_889_297_E->K 0.000199681 365 chr1:111861286:T:C 1431_901_301_W->R 0.000199681 365 chr1:111861776:G:A 1431_950_317_G->E 0.0061901 365 chr1:111861821:T:C 1431_995_332_V->A 0.000199681 365 chr1:111861841:A:G 1431_1015_339_I->V 0.340855 365 chr1:111861848:G:C 1431_1022_341_S->T 0.000199681 365 chr1:111861974:T:C 1431_1061_354_F->S 0.442292 365 chr1:111862042:T:C 1431_1129_377_F->L 0.0123802 365 chr1:111862055:C:T 1431_1142_381_S->F 0.000199681 365 chr1:111862064:A:G 1431_1151_384_K->R 0.00139776 365 chr1:111862903:G:A 1431_1246_416_G->R 0.000599042 365 chr1:111862952:T:G 1431_1295_432_V->G 0.342652 365 chr1:111862963:G:A 1431_1306_436_G->S 0.000199681 365 chr1:111862972:C:A 1431_1315_439_P->T 0.000998403 365 chr1:111862973:C:G 1431_1316_439_P->R 0.000399361 365 chr1:111863008:G:A 1431_1351_451_V->M 0.000199681 365 chr1:111863044:G:A 1431_1387_463_G->R 0.000599042 365 chr1:111863055:C:G 1431_1398_466_F->L 0.000199681 365 chr1:111863074:T:G 1431_1417_473_C->G 0.000998403 365 chr1:111863083:G:A 1431_1426_476_A->T 0.000199681 365 na12878 Variants: 365 chr1:111861974:T:C 1431_1061_354_F->S 365 chr1:111861841:A:G 1431_1015_339_I->V 365 chr1:111862952:T:G 1431_1295_432_V->G 365 snyder Variants: 365 chr1:111861974:T:C 1431_1061_354_F->S 365 chr1:111857951:A:G 1431_374_125_K->R 365 chr1:111861841:A:G 1431_1015_339_I->V 365 chr1:111862952:T:G 1431_1295_432_V->G 366 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134216_ENST00000343320 gene_Name: CHIA_HUMAN 366 list of pdbs: 366 3RME pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 5 366 3RM9 pdb_description: 24-Aug-11 X-ray 2.100 Amcase in complex with compound 3 366 3RM8 pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 2 366 3RM4 pdb_description: 24-Aug-11 X-ray 1.900 Amcase in complex with compound 1 366 3FY1 pdb_description: 10-Mar-09 X-ray 1.700 The acidic mammalian chitinase catalytic domain in complex with methylallosamidin 366 3FXY pdb_description: 10-Mar-09 X-ray 2.000 Acidic mammalian chinase, catalytic domain 366 2YBU pdb_description: 08-Jun-11 X-ray 2.250 Crystal structure of human acidic chitinase in complex with bisdionin f 366 2YBT pdb_description: 08-Jun-11 X-ray 2.220 Crystal structure of human acidic chitinase in complex with bisdionin c 366 Zimmer Variants: 366 chr1:111854895:G:A 1431_139_47_D->N 366 chr1:111854938:G:T 1431_182_61_R->M 366 chr1:111861974:T:C 1431_1061_354_F->S 366 chr1:111862042:T:C 1431_1129_377_F->L 366 chr1:111854889:A:G 1431_133_45_N->D 366 chr1:111857951:A:G 1431_374_125_K->R 366 chr1:111861841:A:G 1431_1015_339_I->V 366 chr1:111862952:T:G 1431_1295_432_V->G 366 HGMD Variants: 366 chr1:111854889:A:G 1431_133_45_N->D 366 chr1:111854895:G:A 1431_139_47_D->N 366 chr1:111854938:G:T 1431_182_61_R->M 366 chr1:111857208:G:A 1431_304_102_G->R 366 chr1:111857951:A:G 1431_374_125_K->R 366 oneKG Variants: 366 chr1:111857201:G:A 1431_297_99_W->* 0.000599042 366 chr1:111860327:G:T 1431_505_169_E->* 0.0061901 366 chr1:111862029:C:A 1431_1116_372_C->* 0.000199681 366 chr1:111854859:C:T 1431_103_35_R->W 0.0115815 366 chr1:111854875:G:A 1431_119_40_R->H 0.000199681 366 chr1:111854889:A:G 1431_133_45_N->D 0.108626 366 chr1:111854895:G:A 1431_139_47_D->N 0.107827 366 chr1:111854925:G:A 1431_169_57_A->T 0.00159744 366 chr1:111854938:G:T 1431_182_61_R->M 0.107827 366 chr1:111854955:A:T 1431_199_67_T->S 0.000199681 366 chr1:111857175:A:C 1431_271_91_K->Q 0.000199681 366 chr1:111857208:G:A 1431_304_102_G->R 0.129593 366 chr1:111857923:C:T 1431_346_116_R->C 0.000199681 366 chr1:111857924:G:A 1431_347_116_R->H 0.00399361 366 chr1:111857951:A:G 1431_374_125_K->R 0.0660942 366 chr1:111857964:G:T 1431_387_129_Q->H 0.000399361 366 chr1:111857977:G:A 1431_400_134_G->R 0.000199681 366 chr1:111858010:C:T 1431_433_145_R->C 0.000199681 366 chr1:111858014:G:C 1431_437_146_G->A 0.000199681 366 chr1:111858017:G:C 1431_440_147_S->T 0.000199681 366 chr1:111858020:C:T 1431_443_148_P->L 0.000199681 366 chr1:111860309:C:T 1431_487_163_R->C 0.000199681 366 chr1:111860338:G:C 1431_516_172_Q->H 0.000199681 366 chr1:111860339:A:T 1431_517_173_I->F 0.000599042 366 chr1:111860352:G:C 1431_530_177_R->T 0.000199681 366 chr1:111860402:G:A 1431_580_194_G->S 0.000199681 366 chr1:111860639:G:A 1431_637_213_D->N 0.000199681 366 chr1:111860717:G:A 1431_715_239_A->T 0.000399361 366 chr1:111860723:C:G 1431_721_241_L->V 0.000199681 366 chr1:111860726:A:C 1431_724_242_N->H 0.000199681 366 chr1:111861142:A:T 1431_757_253_N->Y 0.000199681 366 chr1:111861196:T:G 1431_811_271_F->V 0.000798722 366 chr1:111861217:A:G 1431_832_278_N->D 0.000399361 366 chr1:111861221:C:T 1431_836_279_T->I 0.000199681 366 chr1:111861233:C:T 1431_848_283_A->V 0.000199681 366 chr1:111861235:C:T 1431_850_284_P->S 0.000199681 366 chr1:111861248:C:T 1431_863_288_A->V 0.000399361 366 chr1:111861256:G:T 1431_871_291_A->S 0.000199681 366 chr1:111861268:G:A 1431_883_295_A->T 0.0061901 366 chr1:111861274:G:A 1431_889_297_E->K 0.000199681 366 chr1:111861286:T:C 1431_901_301_W->R 0.000199681 366 chr1:111861776:G:A 1431_950_317_G->E 0.0061901 366 chr1:111861821:T:C 1431_995_332_V->A 0.000199681 366 chr1:111861841:A:G 1431_1015_339_I->V 0.340855 366 chr1:111861848:G:C 1431_1022_341_S->T 0.000199681 366 chr1:111861974:T:C 1431_1061_354_F->S 0.442292 366 chr1:111862042:T:C 1431_1129_377_F->L 0.0123802 366 chr1:111862055:C:T 1431_1142_381_S->F 0.000199681 366 chr1:111862064:A:G 1431_1151_384_K->R 0.00139776 366 chr1:111862903:G:A 1431_1246_416_G->R 0.000599042 366 chr1:111862952:T:G 1431_1295_432_V->G 0.342652 366 chr1:111862963:G:A 1431_1306_436_G->S 0.000199681 366 chr1:111862972:C:A 1431_1315_439_P->T 0.000998403 366 chr1:111862973:C:G 1431_1316_439_P->R 0.000399361 366 chr1:111863008:G:A 1431_1351_451_V->M 0.000199681 366 chr1:111863044:G:A 1431_1387_463_G->R 0.000599042 366 chr1:111863055:C:G 1431_1398_466_F->L 0.000199681 366 chr1:111863074:T:G 1431_1417_473_C->G 0.000998403 366 chr1:111863083:G:A 1431_1426_476_A->T 0.000199681 366 na12878 Variants: 366 chr1:111861974:T:C 1431_1061_354_F->S 366 chr1:111861841:A:G 1431_1015_339_I->V 366 chr1:111862952:T:G 1431_1295_432_V->G 366 snyder Variants: 366 chr1:111861974:T:C 1431_1061_354_F->S 366 chr1:111857951:A:G 1431_374_125_K->R 366 chr1:111861841:A:G 1431_1015_339_I->V 366 chr1:111862952:T:G 1431_1295_432_V->G 367 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134216_ENST00000430615 gene_Name: CHIA_HUMAN 367 list of pdbs: 367 3RME pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 5 367 3RM9 pdb_description: 24-Aug-11 X-ray 2.100 Amcase in complex with compound 3 367 3RM8 pdb_description: 24-Aug-11 X-ray 1.800 Amcase in complex with compound 2 367 3RM4 pdb_description: 24-Aug-11 X-ray 1.900 Amcase in complex with compound 1 367 3FY1 pdb_description: 10-Mar-09 X-ray 1.700 The acidic mammalian chitinase catalytic domain in complex with methylallosamidin 367 3FXY pdb_description: 10-Mar-09 X-ray 2.000 Acidic mammalian chinase, catalytic domain 367 2YBU pdb_description: 08-Jun-11 X-ray 2.250 Crystal structure of human acidic chitinase in complex with bisdionin f 367 2YBT pdb_description: 08-Jun-11 X-ray 2.220 Crystal structure of human acidic chitinase in complex with bisdionin c 367 Zimmer Variants: 367 chr1:111861974:T:C 1107_737_246_F->S 367 chr1:111862042:T:C 1107_805_269_F->L 367 chr1:111857951:A:G 1107_50_17_K->R 367 chr1:111861841:A:G 1107_691_231_I->V 367 chr1:111862952:T:G 1107_971_324_V->G 367 HGMD Variants: 367 chr1:111857951:A:G 1107_50_17_K->R 367 oneKG Variants: 367 chr1:111860327:G:T 1107_181_61_E->* 0.0061901 367 chr1:111862029:C:A 1107_792_264_C->* 0.000199681 367 chr1:111857923:C:T 1107_22_8_R->C 0.000199681 367 chr1:111857924:G:A 1107_23_8_R->H 0.00399361 367 chr1:111857951:A:G 1107_50_17_K->R 0.0660942 367 chr1:111857964:G:T 1107_63_21_Q->H 0.000399361 367 chr1:111857977:G:A 1107_76_26_G->R 0.000199681 367 chr1:111858010:C:T 1107_109_37_R->C 0.000199681 367 chr1:111858014:G:C 1107_113_38_G->A 0.000199681 367 chr1:111858017:G:C 1107_116_39_S->T 0.000199681 367 chr1:111858020:C:T 1107_119_40_P->L 0.000199681 367 chr1:111860309:C:T 1107_163_55_R->C 0.000199681 367 chr1:111860338:G:C 1107_192_64_Q->H 0.000199681 367 chr1:111860339:A:T 1107_193_65_I->F 0.000599042 367 chr1:111860352:G:C 1107_206_69_R->T 0.000199681 367 chr1:111860402:G:A 1107_256_86_G->S 0.000199681 367 chr1:111860639:G:A 1107_313_105_D->N 0.000199681 367 chr1:111860717:G:A 1107_391_131_A->T 0.000399361 367 chr1:111860723:C:G 1107_397_133_L->V 0.000199681 367 chr1:111860726:A:C 1107_400_134_N->H 0.000199681 367 chr1:111861142:A:T 1107_433_145_N->Y 0.000199681 367 chr1:111861196:T:G 1107_487_163_F->V 0.000798722 367 chr1:111861217:A:G 1107_508_170_N->D 0.000399361 367 chr1:111861221:C:T 1107_512_171_T->I 0.000199681 367 chr1:111861233:C:T 1107_524_175_A->V 0.000199681 367 chr1:111861235:C:T 1107_526_176_P->S 0.000199681 367 chr1:111861248:C:T 1107_539_180_A->V 0.000399361 367 chr1:111861256:G:T 1107_547_183_A->S 0.000199681 367 chr1:111861268:G:A 1107_559_187_A->T 0.0061901 367 chr1:111861274:G:A 1107_565_189_E->K 0.000199681 367 chr1:111861286:T:C 1107_577_193_W->R 0.000199681 367 chr1:111861776:G:A 1107_626_209_G->E 0.0061901 367 chr1:111861821:T:C 1107_671_224_V->A 0.000199681 367 chr1:111861841:A:G 1107_691_231_I->V 0.340855 367 chr1:111861848:G:C 1107_698_233_S->T 0.000199681 367 chr1:111861974:T:C 1107_737_246_F->S 0.442292 367 chr1:111862042:T:C 1107_805_269_F->L 0.0123802 367 chr1:111862055:C:T 1107_818_273_S->F 0.000199681 367 chr1:111862064:A:G 1107_827_276_K->R 0.00139776 367 chr1:111862903:G:A 1107_922_308_G->R 0.000599042 367 chr1:111862952:T:G 1107_971_324_V->G 0.342652 367 chr1:111862963:G:A 1107_982_328_G->S 0.000199681 367 chr1:111862972:C:A 1107_991_331_P->T 0.000998403 367 chr1:111862973:C:G 1107_992_331_P->R 0.000399361 367 chr1:111863008:G:A 1107_1027_343_V->M 0.000199681 367 chr1:111863044:G:A 1107_1063_355_G->R 0.000599042 367 chr1:111863055:C:G 1107_1074_358_F->L 0.000199681 367 chr1:111863074:T:G 1107_1093_365_C->G 0.000998403 367 chr1:111863083:G:A 1107_1102_368_A->T 0.000199681 367 na12878 Variants: 367 chr1:111861974:T:C 1107_737_246_F->S 367 chr1:111861841:A:G 1107_691_231_I->V 367 chr1:111862952:T:G 1107_971_324_V->G 367 snyder Variants: 367 chr1:111861974:T:C 1107_737_246_F->S 367 chr1:111857951:A:G 1107_50_17_K->R 367 chr1:111861841:A:G 1107_691_231_I->V 367 chr1:111862952:T:G 1107_971_324_V->G 368 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134259_ENST00000369512 gene_Name: NGF_HUMAN 368 list of pdbs: 368 2IFG pdb_description: 13-Feb-07 X-ray 3.400 Structure of the extracellular segment of human trka in comp nerve growth factor 368 1WWW pdb_description: 15-Sep-99 X-ray 2.200 Ngf in complex with domain 5 of the trka receptor 368 1SG1 pdb_description: 01-Jun-04 X-ray 2.400 Crystal structure of the receptor-ligand complex between nerve growth factor and the common neurotrophin receptor p75 368 Zimmer Variants: 368 chr1:115829313:G:A 726_104_35_A->V;GENE=NGF;CDSS=2 368 HGMD Variants: 368 chr1:115828756:G:A 726_661_221_R->W 368 chr1:115828857:C:T 726_560_187_S->N 368 chr1:115829313:G:A 726_104_35_A->V 368 oneKG Variants: 368 chr1:115828711:T:G 726_706_236_K->Q 0.000399361 368 chr1:115828861:C:T 726_556_186_D->N 0.000199681 368 chr1:115828864:C:T 726_553_185_V->I 0.000199681 368 chr1:115828998:C:T 726_419_140_S->N 0.000399361 368 chr1:115829074:T:C 726_343_115_R->G 0.000199681 368 chr1:115829082:G:C 726_335_112_P->R 0.000399361 368 chr1:115829095:C:T 726_322_108_G->S 0.000199681 368 chr1:115829125:C:T 726_292_98_A->T 0.000199681 368 chr1:115829133:C:T 726_284_95_R->H 0.000199681 368 chr1:115829178:C:T 726_239_80_R->Q 0.00459265 368 chr1:115829203:C:T 726_214_72_V->M 0.00678914 368 chr1:115829215:G:A 726_202_68_R->C 0.0 368 chr1:115829232:C:T 726_185_62_R->H 0.000199681 368 chr1:115829244:G:A 726_173_58_A->V 0.00319489 368 chr1:115829257:C:T 726_160_54_A->T 0.000399361 368 chr1:115829262:C:A 726_155_52_R->L 0.000199681 368 chr1:115829277:G:A 726_140_47_A->V 0.000199681 368 chr1:115829278:C:A 726_139_47_A->S 0.000199681 368 chr1:115829289:G:A 726_128_43_S->F 0.000199681 368 chr1:115829313:G:A 726_104_35_A->V 0.247404 368 chr1:115829374:C:G 726_43_15_G->R 0.000399361 368 na12878 Variants: 368 chr1:115829313:G:A 726_104_35_A->V 368 snyder Variants: 368 chr1:115829313:G:A 726_104_35_A->V 369 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159527_ENST00000290722 gene_Name: PGRP3_HUMAN 369 list of pdbs: 369 2APH pdb_description: 27-Jun-06 X-ray 2.100 Crystal structure of human pgrp-ialphac in complex with mura pentapeptide 369 1TWQ pdb_description: 14-Dec-04 X-ray 2.300 Crystal structure of thE C-terminal pgn-binding domain of hu ialpha in complex with pgn analog muramyl tripeptide 369 1SK4 pdb_description: 13-Jul-04 X-ray 1.650 Crystal structure of thE C-terminal peptidoglycan-binding do human peptidoglycan recognition protein ialpha 369 1SK3 pdb_description: 13-Jul-04 X-ray 2.800 Crystal structure of thE C-terminal peptidoglycan-binding domain of human peptidoglycan recognition protein ialpha 369 Zimmer Variants: 369 chr1:153277423:C:T 1026_376_126_G->S;GENE=PGLYRP3;CDSS=2 369 HGMD Variants: 369 chr1:153274910:G:A 1026_703_235_R->W 369 chr1:153276449:T:C 1026_413_138_E->G 369 chr1:153279702:G:A 1026_97_33_P->S 369 oneKG Variants: 369 chr1:153274940:G:A 1026_673_225_R->* 0.000199681 369 chr1:153270461:T:G 1026_997_333_I->L 0.000199681 369 chr1:153270535:G:A 1026_923_308_T->I 0.000199681 369 chr1:153270554:C:T 1026_904_302_V->M 0.000399361 369 chr1:153270580:G:A 1026_878_293_A->V 0.0071885 369 chr1:153270589:G:A 1026_869_290_A->V 0.000199681 369 chr1:153271621:G:A 1026_815_272_A->V 0.00778754 369 chr1:153271628:C:T 1026_808_270_D->N 0.000199681 369 chr1:153271682:C:T 1026_754_252_V->M 0.00179712 369 chr1:153271685:C:T 1026_751_251_G->S 0.00898562 369 chr1:153274935:G:T 1026_678_226_N->K 0.000199681 369 chr1:153274972:C:A 1026_641_214_C->F 0.000199681 369 chr1:153276333:C:G 1026_529_177_V->L 0.000599042 369 chr1:153276425:T:G 1026_437_146_Q->P 0.000199681 369 chr1:153276449:T:C 1026_413_138_E->G 0.0405351 369 chr1:153277423:C:T 1026_376_126_G->S 0.469848 369 chr1:153277443:G:T 1026_356_119_A->D 0.000199681 369 chr1:153277491:A:G 1026_308_103_I->T 0.000399361 369 chr1:153279548:G:A 1026_251_84_A->V 0.000199681 369 chr1:153279549:C:G 1026_250_84_A->P 0.000199681 369 chr1:153279572:T:C 1026_227_76_Y->C 0.000199681 369 chr1:153279576:C:T 1026_223_75_V->I 0.00119808 369 chr1:153279594:C:T 1026_205_69_G->R 0.000199681 369 chr1:153279596:C:T 1026_203_68_R->Q 0.00179712 369 chr1:153279597:G:A 1026_202_68_R->W 0.0159744 369 chr1:153279608:C:T 1026_191_64_S->N 0.000199681 369 chr1:153279615:C:T 1026_184_62_V->I 0.000399361 369 chr1:153279696:C:T 1026_103_35_A->T 0.0185703 369 chr1:153279702:G:A 1026_97_33_P->S 0.000199681 369 chr1:153279713:C:G 1026_86_29_W->S 0.000199681 369 chr1:153283092:G:A 1026_50_17_A->V 0.000199681 369 chr1:153283134:G:A 1026_8_3_T->M 0.000798722 369 na12878 Variants: 369 chr1:153277423:C:T 1026_376_126_G->S 369 chr1:153279696:C:T 1026_103_35_A->T 369 snyder Variants: 369 chr1:153279696:C:T 1026_103_35_A->T 370 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162458_ENST00000375771 gene_Name: FBLI1_HUMAN 370 list of pdbs: 370 2W0P pdb_description: 30-Sep-08 X-ray 1.900 Crystal structure of the filamin a repeat 21 complexed with the migfilin peptide 370 2K9U pdb_description: 23-Dec-08 NMR 20 Solution nmr structure of the filamin-migfilin complex 370 Zimmer Variants: 370 chr1:16096934:C:T 1122_572_191_S->F 370 HGMD Variants: 370 chr1:16096934:C:T 1122_572_191_S->F 370 oneKG Variants: 370 chr1:16091542:C:A 1122_64_22_R->S 0.000199681 370 chr1:16091543:G:A 1122_65_22_R->H 0.000199681 370 chr1:16091554:G:A 1122_76_26_V->M 0.000199681 370 chr1:16091591:G:A 1122_113_38_R->Q 0.00399361 370 chr1:16091593:C:T 1122_115_39_R->C 0.00778754 370 chr1:16091614:C:T 1122_136_46_P->S 0.000199681 370 chr1:16091648:C:T 1122_170_57_A->V 0.000199681 370 chr1:16091655:G:T 1122_177_59_R->S 0.000199681 370 chr1:16093946:C:T 1122_326_109_P->L 0.000199681 370 chr1:16094000:C:T 1122_380_127_A->V 0.000199681 370 chr1:16095038:C:A 1122_454_152_P->T 0.000199681 370 chr1:16095054:G:C 1122_470_157_G->A 0.000199681 370 chr1:16095104:G:A 1122_520_174_V->I 0.0111821 370 chr1:16096934:C:T 1122_572_191_S->F 0.357628 370 chr1:16097040:G:C 1122_678_226_K->N 0.000199681 370 chr1:16097048:G:A 1122_686_229_R->Q 0.000199681 370 chr1:16101153:G:A 1122_752_251_R->Q 0.000399361 370 chr1:16101228:T:C 1122_827_276_I->T 0.000599042 370 chr1:16103678:G:A 1122_904_302_V->I 0.000199681 370 na12878 Variants: 370 chr1:16096934:C:T 1122_572_191_S->F 370 snyder Variants: 370 chr1:16096934:C:T 1122_572_191_S->F 371 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162458_ENST00000375766 gene_Name: FBLI1_HUMAN 371 list of pdbs: 371 2W0P pdb_description: 30-Sep-08 X-ray 1.900 Crystal structure of the filamin a repeat 21 complexed with the migfilin peptide 371 2K9U pdb_description: 23-Dec-08 NMR 20 Solution nmr structure of the filamin-migfilin complex 371 Zimmer Variants: 371 chr1:16096934:C:T 1122_572_191_S->F 371 HGMD Variants: 371 chr1:16096934:C:T 1122_572_191_S->F 371 oneKG Variants: 371 chr1:16091542:C:A 1122_64_22_R->S 0.000199681 371 chr1:16091543:G:A 1122_65_22_R->H 0.000199681 371 chr1:16091554:G:A 1122_76_26_V->M 0.000199681 371 chr1:16091591:G:A 1122_113_38_R->Q 0.00399361 371 chr1:16091593:C:T 1122_115_39_R->C 0.00778754 371 chr1:16091614:C:T 1122_136_46_P->S 0.000199681 371 chr1:16091648:C:T 1122_170_57_A->V 0.000199681 371 chr1:16091655:G:T 1122_177_59_R->S 0.000199681 371 chr1:16093946:C:T 1122_326_109_P->L 0.000199681 371 chr1:16094000:C:T 1122_380_127_A->V 0.000199681 371 chr1:16095038:C:A 1122_454_152_P->T 0.000199681 371 chr1:16095054:G:C 1122_470_157_G->A 0.000199681 371 chr1:16095104:G:A 1122_520_174_V->I 0.0111821 371 chr1:16096934:C:T 1122_572_191_S->F 0.357628 371 chr1:16097040:G:C 1122_678_226_K->N 0.000199681 371 chr1:16097048:G:A 1122_686_229_R->Q 0.000199681 371 chr1:16101153:G:A 1122_752_251_R->Q 0.000399361 371 chr1:16101228:T:C 1122_827_276_I->T 0.000599042 371 chr1:16103678:G:A 1122_904_302_V->I 0.000199681 371 na12878 Variants: 371 chr1:16096934:C:T 1122_572_191_S->F 371 snyder Variants: 371 chr1:16096934:C:T 1122_572_191_S->F 372 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162458_ENST00000400773 gene_Name: FBLI1_HUMAN 372 list of pdbs: 372 2W0P pdb_description: 30-Sep-08 X-ray 1.900 Crystal structure of the filamin a repeat 21 complexed with the migfilin peptide 372 2K9U pdb_description: 23-Dec-08 NMR 20 Solution nmr structure of the filamin-migfilin complex 372 Zimmer Variants: 372 chr1:16096934:C:T 831_281_94_S->F 372 HGMD Variants: 372 chr1:16096934:C:T 831_281_94_S->F 372 oneKG Variants: 372 chr1:16091542:C:A 831_64_22_R->S 0.000199681 372 chr1:16091543:G:A 831_65_22_R->H 0.000199681 372 chr1:16091554:G:A 831_76_26_V->M 0.000199681 372 chr1:16091591:G:A 831_113_38_R->Q 0.00399361 372 chr1:16091593:C:T 831_115_39_R->C 0.00778754 372 chr1:16091614:C:T 831_136_46_P->S 0.000199681 372 chr1:16091648:C:T 831_170_57_A->V 0.000199681 372 chr1:16091655:G:T 831_177_59_R->S 0.000199681 372 chr1:16096934:C:T 831_281_94_S->F 0.357628 372 chr1:16097040:G:C 831_387_129_K->N 0.000199681 372 chr1:16097048:G:A 831_395_132_R->Q 0.000199681 372 chr1:16101153:G:A 831_461_154_R->Q 0.000399361 372 chr1:16101228:T:C 831_536_179_I->T 0.000599042 372 chr1:16103678:G:A 831_613_205_V->I 0.000199681 372 na12878 Variants: 372 chr1:16096934:C:T 831_281_94_S->F 372 snyder Variants: 372 chr1:16096934:C:T 831_281_94_S->F 373 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162458_ENST00000441801 gene_Name: FBLI1_HUMAN 373 list of pdbs: 373 2W0P pdb_description: 30-Sep-08 X-ray 1.900 Crystal structure of the filamin a repeat 21 complexed with the migfilin peptide 373 2K9U pdb_description: 23-Dec-08 NMR 20 Solution nmr structure of the filamin-migfilin complex 373 Zimmer Variants: 373 chr1:16096934:C:T 1125_572_191_S->F;GENE=FBLIM1;CDSS=2 373 HGMD Variants: 373 chr1:16096934:C:T 1125_572_191_S->F 373 oneKG Variants: 373 chr1:16101479:C:T 1125_1078_360_R->* 0.000199681 373 chr1:16091542:C:A 1125_64_22_R->S 0.000199681 373 chr1:16091543:G:A 1125_65_22_R->H 0.000199681 373 chr1:16091554:G:A 1125_76_26_V->M 0.000199681 373 chr1:16091591:G:A 1125_113_38_R->Q 0.00399361 373 chr1:16091593:C:T 1125_115_39_R->C 0.00778754 373 chr1:16091614:C:T 1125_136_46_P->S 0.000199681 373 chr1:16091648:C:T 1125_170_57_A->V 0.000199681 373 chr1:16091655:G:T 1125_177_59_R->S 0.000199681 373 chr1:16093946:C:T 1125_326_109_P->L 0.000199681 373 chr1:16094000:C:T 1125_380_127_A->V 0.000199681 373 chr1:16095038:C:A 1125_454_152_P->T 0.000199681 373 chr1:16095054:G:C 1125_470_157_G->A 0.000199681 373 chr1:16095104:G:A 1125_520_174_V->I 0.0111821 373 chr1:16096934:C:T 1125_572_191_S->F 0.357628 373 chr1:16097040:G:C 1125_678_226_K->N 0.000199681 373 chr1:16097048:G:A 1125_686_229_R->Q 0.000199681 373 chr1:16101153:G:A 1125_752_251_R->Q 0.000399361 373 chr1:16101228:T:C 1125_827_276_I->T 0.000599042 373 chr1:16101302:G:C 1125_901_301_G->R 0.000399361 373 chr1:16101323:G:T 1125_922_308_A->S 0.00559105 373 chr1:16101327:G:T 1125_926_309_G->V 0.000199681 373 chr1:16101332:G:A 1125_931_311_G->R 0.0117812 373 chr1:16101438:G:C 1125_1037_346_G->A 0.000199681 373 chr1:16101441:C:T 1125_1040_347_A->V 0.000399361 373 chr1:16101451:C:A 1125_1050_350_H->Q 0.000399361 373 chr1:16101468:C:G 1125_1067_356_T->S 0.000199681 373 chr1:16101477:G:T 1125_1076_359_G->V 0.000399361 373 chr1:16101510:G:A 1125_1109_370_R->Q 0.000199681 373 na12878 Variants: 373 chr1:16096934:C:T 1125_572_191_S->F 373 snyder Variants: 373 chr1:16096934:C:T 1125_572_191_S->F 374 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162458_ENST00000332305 gene_Name: FBLI1_HUMAN 374 list of pdbs: 374 2W0P pdb_description: 30-Sep-08 X-ray 1.900 Crystal structure of the filamin a repeat 21 complexed with the migfilin peptide 374 2K9U pdb_description: 23-Dec-08 NMR 20 Solution nmr structure of the filamin-migfilin complex 374 Zimmer Variants: 374 chr1:16096934:C:T 831_281_94_S->F 374 HGMD Variants: 374 chr1:16096934:C:T 831_281_94_S->F 374 oneKG Variants: 374 chr1:16091542:C:A 831_64_22_R->S 0.000199681 374 chr1:16091543:G:A 831_65_22_R->H 0.000199681 374 chr1:16091554:G:A 831_76_26_V->M 0.000199681 374 chr1:16091591:G:A 831_113_38_R->Q 0.00399361 374 chr1:16091593:C:T 831_115_39_R->C 0.00778754 374 chr1:16091614:C:T 831_136_46_P->S 0.000199681 374 chr1:16091648:C:T 831_170_57_A->V 0.000199681 374 chr1:16091655:G:T 831_177_59_R->S 0.000199681 374 chr1:16096934:C:T 831_281_94_S->F 0.357628 374 chr1:16097040:G:C 831_387_129_K->N 0.000199681 374 chr1:16097048:G:A 831_395_132_R->Q 0.000199681 374 chr1:16101153:G:A 831_461_154_R->Q 0.000399361 374 chr1:16101228:T:C 831_536_179_I->T 0.000599042 374 chr1:16103678:G:A 831_613_205_V->I 0.000199681 374 na12878 Variants: 374 chr1:16096934:C:T 831_281_94_S->F 374 snyder Variants: 374 chr1:16096934:C:T 831_281_94_S->F 375 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143226_ENST00000367972 gene_Name: FCG2A_HUMAN 375 list of pdbs: 375 3RY6 pdb_description: 31-Aug-11 X-ray 3.800 Complex of fcgammariia (cd32) and the fc of human igg1 375 3RY5 pdb_description: 31-Aug-11 X-ray 2.300 Three-dimensional structure of glycosylated fcgammariia (hig responder polymorphism) 375 3RY4 pdb_description: 31-Aug-11 X-ray 1.500 1.5 angstrom resolution structure of glycosylated fcgammarii responder polymorphism) 375 3D5O pdb_description: 11-Nov-08 X-ray 2.800 Structural recognition and functional activation of fcrr by pentraxins 375 1H9V pdb_description: 21-Jun-01 X-ray 3.000 Human fc-gamma-receptor iia (fcgriia), monoclinic 375 1FCG pdb_description: 12-Apr-00 X-ray 2.000 Ectodomain of human fc gamma receptor, fcgriia 375 Zimmer Variants: 375 chr1:161479745:A:G 951_497_166_H->R;GNEG=Yes;GENE=FCGR2A;CDSS=2 375 HGMD Variants: 375 chr1:161479732:C:A 951_484_162_Q->K 375 chr1:161479745:A:G 951_497_166_H->R 375 chr1:161487805:T:C 951_818_273_L->P 375 oneKG Variants: 375 chr1:161476204:C:T 951_184_62_Q->* 0.0561102 375 chr1:161475287:T:G 951_30_10_N->K 0.000199681 375 chr1:161475297:A:G 951_40_14_R->G 0.000599042 375 chr1:161475327:G:A 951_70_24_V->I 0.000199681 375 chr1:161476160:C:T 951_140_47_P->L 0.000199681 375 chr1:161476205:A:G 951_185_62_Q->R 0.0664936 375 chr1:161476250:A:G 951_230_77_N->S 0.000399361 375 chr1:161476274:C:T 951_254_85_T->M 0.000399361 375 chr1:161479663:A:G 951_415_139_M->V 0.00139776 375 chr1:161479708:A:G 951_460_154_T->A 0.000998403 375 chr1:161479732:C:A 951_484_162_Q->K 0.000199681 375 chr1:161479745:A:G 951_497_166_H->R 0.441693 375 chr1:161479832:T:A 951_584_195_F->Y 0.00319489 375 chr1:161479859:T:C 951_611_204_V->A 0.000199681 375 chr1:161480626:C:T 951_619_207_P->S 0.000199681 375 chr1:161480675:T:C 951_668_223_I->T 0.000199681 375 chr1:161480678:C:T 951_671_224_A->V 0.000399361 375 chr1:161480737:C:T 951_730_244_R->W 0.00259585 375 chr1:161487775:G:A 951_788_263_R->H 0.000199681 375 chr1:161487823:A:C 951_836_279_D->A 0.000399361 375 chr1:161487853:C:G 951_866_289_T->S 0.000199681 375 chr1:161487927:A:G 951_940_314_S->G 0.000599042 375 na12878 Variants: 375 chr1:161476204:C:T 951_184_62_Q->* 375 chr1:161476205:A:G 951_185_62_Q->R 375 chr1:161479745:A:G 951_497_166_H->R 375 snyder Variants: 375 chr1:161479745:A:G 951_497_166_H->R 376 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143226_ENST00000271450 gene_Name: FCG2A_HUMAN 376 list of pdbs: 376 3RY6 pdb_description: 31-Aug-11 X-ray 3.800 Complex of fcgammariia (cd32) and the fc of human igg1 376 3RY5 pdb_description: 31-Aug-11 X-ray 2.300 Three-dimensional structure of glycosylated fcgammariia (hig responder polymorphism) 376 3RY4 pdb_description: 31-Aug-11 X-ray 1.500 1.5 angstrom resolution structure of glycosylated fcgammarii responder polymorphism) 376 3D5O pdb_description: 11-Nov-08 X-ray 2.800 Structural recognition and functional activation of fcrr by pentraxins 376 1H9V pdb_description: 21-Jun-01 X-ray 3.000 Human fc-gamma-receptor iia (fcgriia), monoclinic 376 1FCG pdb_description: 12-Apr-00 X-ray 2.000 Ectodomain of human fc gamma receptor, fcgriia 376 Zimmer Variants: 376 chr1:161479745:A:G 954_500_167_H->R 376 HGMD Variants: 376 chr1:161479732:C:A 954_487_163_Q->K 376 chr1:161479745:A:G 954_500_167_H->R 376 chr1:161487805:T:C 954_821_274_L->P 376 oneKG Variants: 376 chr1:161476204:C:T 954_187_63_Q->* 0.0561102 376 chr1:161475287:T:G 954_30_10_N->K 0.000199681 376 chr1:161475297:A:G 954_40_14_R->G 0.000599042 376 chr1:161475327:G:A 954_70_24_V->I 0.000199681 376 chr1:161476160:C:T 954_143_48_P->L 0.000199681 376 chr1:161476205:A:G 954_188_63_Q->R 0.0664936 376 chr1:161476250:A:G 954_233_78_N->S 0.000399361 376 chr1:161476274:C:T 954_257_86_T->M 0.000399361 376 chr1:161479663:A:G 954_418_140_M->V 0.00139776 376 chr1:161479708:A:G 954_463_155_T->A 0.000998403 376 chr1:161479732:C:A 954_487_163_Q->K 0.000199681 376 chr1:161479745:A:G 954_500_167_H->R 0.441693 376 chr1:161479832:T:A 954_587_196_F->Y 0.00319489 376 chr1:161479859:T:C 954_614_205_V->A 0.000199681 376 chr1:161480626:C:T 954_622_208_P->S 0.000199681 376 chr1:161480675:T:C 954_671_224_I->T 0.000199681 376 chr1:161480678:C:T 954_674_225_A->V 0.000399361 376 chr1:161480737:C:T 954_733_245_R->W 0.00259585 376 chr1:161487775:G:A 954_791_264_R->H 0.000199681 376 chr1:161487823:A:C 954_839_280_D->A 0.000399361 376 chr1:161487853:C:G 954_869_290_T->S 0.000199681 376 chr1:161487927:A:G 954_943_315_S->G 0.000599042 376 na12878 Variants: 376 chr1:161476204:C:T 954_187_63_Q->* 376 chr1:161476205:A:G 954_188_63_Q->R 376 chr1:161479745:A:G 954_500_167_H->R 376 snyder Variants: 376 chr1:161479745:A:G 954_500_167_H->R 377 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186510_ENST00000375692 gene_Name: CLCKA_HUMAN 377 list of pdbs: 377 2PFI pdb_description: 19-Jun-07 X-ray 1.600 Crystal structure of the cytoplasmic domain of the human chloride channel clc-ka 377 Zimmer Variants: 377 chr1:16354590:A:T 2061_944_315_Y->F 377 chr1:16351275:A:G 2061_247_83_R->G 377 chr1:16356501:G:A 2061_1339_447_A->T 377 HGMD Variants: 377 chr1:16353927:C:T 2061_778_260_Q->* 377 chr1:16351268:G:C 2061_240_80_W->C 377 chr1:16351275:A:G 2061_247_83_R->G 377 chr1:16356501:G:A 2061_1339_447_A->T 377 oneKG Variants: 377 chr1:16349169:C:T 2061_55_19_Q->* 0.000199681 377 chr1:16354543:C:G 2061_897_299_Y->* 0.000199681 377 chr1:16354556:C:T 2061_910_304_R->* 0.000199681 377 chr1:16349136:C:T 2061_22_8_R->C 0.000199681 377 chr1:16349137:G:A 2061_23_8_R->H 0.0121805 377 chr1:16349185:C:A 2061_71_24_P->H 0.000199681 377 chr1:16349203:G:A 2061_89_30_R->Q 0.000199681 377 chr1:16350328:G:A 2061_134_45_R->H 0.00319489 377 chr1:16350334:G:A 2061_140_47_G->E 0.000199681 377 chr1:16350366:G:T 2061_172_58_V->L 0.000599042 377 chr1:16350393:A:G 2061_199_67_M->V 0.000199681 377 chr1:16350417:G:T 2061_223_75_V->F 0.00379393 377 chr1:16350421:G:A 2061_227_76_R->Q 0.000199681 377 chr1:16351266:T:G 2061_238_80_W->G 0.00159744 377 chr1:16351275:A:G 2061_247_83_R->G 0.357029 377 chr1:16351338:G:A 2061_310_104_V->I 0.00399361 377 chr1:16352680:G:A 2061_436_146_A->T 0.000199681 377 chr1:16353038:T:C 2061_506_169_F->S 0.000199681 377 chr1:16353828:A:G 2061_679_227_M->V 0.000199681 377 chr1:16353896:A:G 2061_747_249_I->M 0.000399361 377 chr1:16353903:C:T 2061_754_252_L->F 0.000199681 377 chr1:16354325:C:A 2061_791_264_T->N 0.00179712 377 chr1:16354354:G:A 2061_820_274_D->N 0.000199681 377 chr1:16354369:C:A 2061_835_279_L->M 0.000199681 377 chr1:16354394:C:T 2061_860_287_A->V 0.0173722 377 chr1:16354581:C:T 2061_935_312_T->I 0.00239617 377 chr1:16354590:A:T 2061_944_315_Y->F 0.154553 377 chr1:16355287:C:G 2061_1000_334_L->V 0.0101837 377 chr1:16355314:G:A 2061_1027_343_G->S 0.000798722 377 chr1:16355318:T:C 2061_1031_344_V->A 0.000798722 377 chr1:16355324:A:G 2061_1037_346_H->R 0.000798722 377 chr1:16355638:T:A 2061_1071_357_H->Q 0.0858626 377 chr1:16355714:G:T 2061_1147_383_D->Y 0.000798722 377 chr1:16355737:A:T 2061_1170_390_E->D 0.000199681 377 chr1:16355750:C:T 2061_1183_395_R->W 0.000199681 377 chr1:16355763:T:A 2061_1196_399_F->Y 0.000599042 377 chr1:16356498:G:A 2061_1336_446_V->I 0.000399361 377 chr1:16356501:G:A 2061_1339_447_A->T 0.351438 377 chr1:16356522:A:G 2061_1360_454_T->A 0.0533147 377 chr1:16356531:G:A 2061_1369_457_V->I 0.0533147 377 chr1:16356971:C:T 2061_1424_475_S->L 0.00119808 377 chr1:16357061:T:C 2061_1514_505_V->A 0.000199681 377 chr1:16357097:C:T 2061_1550_517_P->L 0.000199681 377 chr1:16357117:A:G 2061_1570_524_I->V 0.000399361 377 chr1:16357147:C:T 2061_1600_534_R->W 0.0535144 377 chr1:16357159:C:T 2061_1612_538_R->C 0.00239617 377 chr1:16358248:A:G 2061_1666_556_T->A 0.00359425 377 chr1:16358251:A:G 2061_1669_557_T->A 0.000199681 377 chr1:16358993:C:T 2061_1898_633_T->M 0.000199681 377 chr1:16359016:C:T 2061_1921_641_H->Y 0.000199681 377 chr1:16359674:C:T 2061_1936_646_L->F 0.00279553 377 chr1:16359717:G:A 2061_1979_660_R->Q 0.00439297 377 chr1:16360137:C:T 2061_2045_682_P->L 0.0605032 377 na12878 Variants: 377 chr1:16354590:A:T 2061_944_315_Y->F 377 chr1:16360137:C:T 2061_2045_682_P->L 377 chr1:16351275:A:G 2061_247_83_R->G 377 chr1:16356501:G:A 2061_1339_447_A->T 377 chr1:16357147:C:T 2061_1600_534_R->W 377 snyder Variants: 377 chr1:16354590:A:T 2061_944_315_Y->F 377 chr1:16351275:A:G 2061_247_83_R->G 377 chr1:16356501:G:A 2061_1339_447_A->T 378 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186510_ENST00000420078 gene_Name: CLCKA_HUMAN 378 list of pdbs: 378 2PFI pdb_description: 19-Jun-07 X-ray 1.600 Crystal structure of the cytoplasmic domain of the human chloride channel clc-ka 378 Zimmer Variants: 378 chr1:16354590:A:T 2061_944_315_Y->F 378 chr1:16351275:A:G 2061_247_83_R->G;GENE=CLCNKA;CDSS=1 378 chr1:16356501:G:A 2061_1339_447_A->T 378 HGMD Variants: 378 chr1:16353927:C:T 2061_778_260_Q->* 378 chr1:16351268:G:C 2061_240_80_W->C 378 chr1:16351275:A:G 2061_247_83_R->G 378 chr1:16356501:G:A 2061_1339_447_A->T 378 oneKG Variants: 378 chr1:16349169:C:T 2061_55_19_Q->* 0.000199681 378 chr1:16354543:C:G 2061_897_299_Y->* 0.000199681 378 chr1:16354556:C:T 2061_910_304_R->* 0.000199681 378 chr1:16349136:C:T 2061_22_8_R->C 0.000199681 378 chr1:16349137:G:A 2061_23_8_R->H 0.0121805 378 chr1:16349185:C:A 2061_71_24_P->H 0.000199681 378 chr1:16349203:G:A 2061_89_30_R->Q 0.000199681 378 chr1:16350328:G:A 2061_134_45_R->H 0.00319489 378 chr1:16350334:G:A 2061_140_47_G->E 0.000199681 378 chr1:16350366:G:T 2061_172_58_V->L 0.000599042 378 chr1:16350393:A:G 2061_199_67_M->V 0.000199681 378 chr1:16350417:G:T 2061_223_75_V->F 0.00379393 378 chr1:16350421:G:A 2061_227_76_R->Q 0.000199681 378 chr1:16351266:T:G 2061_238_80_W->G 0.00159744 378 chr1:16351275:A:G 2061_247_83_R->G 0.357029 378 chr1:16351338:G:A 2061_310_104_V->I 0.00399361 378 chr1:16352680:G:A 2061_436_146_A->T 0.000199681 378 chr1:16353038:T:C 2061_506_169_F->S 0.000199681 378 chr1:16353828:A:G 2061_679_227_M->V 0.000199681 378 chr1:16353896:A:G 2061_747_249_I->M 0.000399361 378 chr1:16353903:C:T 2061_754_252_L->F 0.000199681 378 chr1:16354325:C:A 2061_791_264_T->N 0.00179712 378 chr1:16354354:G:A 2061_820_274_D->N 0.000199681 378 chr1:16354369:C:A 2061_835_279_L->M 0.000199681 378 chr1:16354394:C:T 2061_860_287_A->V 0.0173722 378 chr1:16354581:C:T 2061_935_312_T->I 0.00239617 378 chr1:16354590:A:T 2061_944_315_Y->F 0.154553 378 chr1:16355287:C:G 2061_1000_334_L->V 0.0101837 378 chr1:16355314:G:A 2061_1027_343_G->S 0.000798722 378 chr1:16355318:T:C 2061_1031_344_V->A 0.000798722 378 chr1:16355324:A:G 2061_1037_346_H->R 0.000798722 378 chr1:16355638:T:A 2061_1071_357_H->Q 0.0858626 378 chr1:16355714:G:T 2061_1147_383_D->Y 0.000798722 378 chr1:16355737:A:T 2061_1170_390_E->D 0.000199681 378 chr1:16355750:C:T 2061_1183_395_R->W 0.000199681 378 chr1:16355763:T:A 2061_1196_399_F->Y 0.000599042 378 chr1:16356498:G:A 2061_1336_446_V->I 0.000399361 378 chr1:16356501:G:A 2061_1339_447_A->T 0.351438 378 chr1:16356522:A:G 2061_1360_454_T->A 0.0533147 378 chr1:16356531:G:A 2061_1369_457_V->I 0.0533147 378 chr1:16356971:C:T 2061_1424_475_S->L 0.00119808 378 chr1:16357061:T:C 2061_1514_505_V->A 0.000199681 378 chr1:16357097:C:T 2061_1550_517_P->L 0.000199681 378 chr1:16357117:A:G 2061_1570_524_I->V 0.000399361 378 chr1:16357147:C:T 2061_1600_534_R->W 0.0535144 378 chr1:16357159:C:T 2061_1612_538_R->C 0.00239617 378 chr1:16358248:A:G 2061_1666_556_T->A 0.00359425 378 chr1:16358251:A:G 2061_1669_557_T->A 0.000199681 378 chr1:16358993:C:T 2061_1898_633_T->M 0.000199681 378 chr1:16359016:C:T 2061_1921_641_H->Y 0.000199681 378 chr1:16359674:C:T 2061_1936_646_L->F 0.00279553 378 chr1:16359717:G:A 2061_1979_660_R->Q 0.00439297 378 chr1:16360137:C:T 2061_2045_682_P->L 0.0605032 378 na12878 Variants: 378 chr1:16354590:A:T 2061_944_315_Y->F 378 chr1:16360137:C:T 2061_2045_682_P->L 378 chr1:16351275:A:G 2061_247_83_R->G 378 chr1:16356501:G:A 2061_1339_447_A->T 378 chr1:16357147:C:T 2061_1600_534_R->W 378 snyder Variants: 378 chr1:16354590:A:T 2061_944_315_Y->F 378 chr1:16351275:A:G 2061_247_83_R->G 378 chr1:16356501:G:A 2061_1339_447_A->T 379 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186510_ENST00000439316 gene_Name: CLCKA_HUMAN 379 list of pdbs: 379 2PFI pdb_description: 19-Jun-07 X-ray 1.600 Crystal structure of the cytoplasmic domain of the human chloride channel clc-ka 379 Zimmer Variants: 379 chr1:16354590:A:T 1935_815_272_Y->F;GENE=CLCNKA;CDSS=2 379 chr1:16356501:G:A 1935_1210_404_A->T;GENE=CLCNKA;CDSS=1 379 HGMD Variants: 379 chr1:16353927:C:T 1935_649_217_Q->* 379 chr1:16356501:G:A 1935_1210_404_A->T 379 oneKG Variants: 379 chr1:16349169:C:T 1935_55_19_Q->* 0.000199681 379 chr1:16354543:C:G 1935_768_256_Y->* 0.000199681 379 chr1:16354556:C:T 1935_781_261_R->* 0.000199681 379 chr1:16349136:C:T 1935_22_8_R->C 0.000199681 379 chr1:16349137:G:A 1935_23_8_R->H 0.0121805 379 chr1:16349185:C:A 1935_71_24_P->H 0.000199681 379 chr1:16349203:G:A 1935_89_30_R->Q 0.000199681 379 chr1:16350328:G:A 1935_134_45_R->H 0.00319489 379 chr1:16350334:G:A 1935_140_47_G->E 0.000199681 379 chr1:16350366:G:T 1935_172_58_V->L 0.000599042 379 chr1:16350393:A:G 1935_199_67_M->V 0.000199681 379 chr1:16350417:G:T 1935_223_75_V->F 0.00379393 379 chr1:16350421:G:A 1935_227_76_R->Q 0.000199681 379 chr1:16352680:G:A 1935_307_103_A->T 0.000199681 379 chr1:16353038:T:C 1935_377_126_F->S 0.000199681 379 chr1:16353828:A:G 1935_550_184_M->V 0.000199681 379 chr1:16353896:A:G 1935_618_206_I->M 0.000399361 379 chr1:16353903:C:T 1935_625_209_L->F 0.000199681 379 chr1:16354325:C:A 1935_662_221_T->N 0.00179712 379 chr1:16354354:G:A 1935_691_231_D->N 0.000199681 379 chr1:16354369:C:A 1935_706_236_L->M 0.000199681 379 chr1:16354394:C:T 1935_731_244_A->V 0.0173722 379 chr1:16354581:C:T 1935_806_269_T->I 0.00239617 379 chr1:16354590:A:T 1935_815_272_Y->F 0.154553 379 chr1:16355287:C:G 1935_871_291_L->V 0.0101837 379 chr1:16355314:G:A 1935_898_300_G->S 0.000798722 379 chr1:16355318:T:C 1935_902_301_V->A 0.000798722 379 chr1:16355324:A:G 1935_908_303_H->R 0.000798722 379 chr1:16355638:T:A 1935_942_314_H->Q 0.0858626 379 chr1:16355714:G:T 1935_1018_340_D->Y 0.000798722 379 chr1:16355737:A:T 1935_1041_347_E->D 0.000199681 379 chr1:16355750:C:T 1935_1054_352_R->W 0.000199681 379 chr1:16355763:T:A 1935_1067_356_F->Y 0.000599042 379 chr1:16356498:G:A 1935_1207_403_V->I 0.000399361 379 chr1:16356501:G:A 1935_1210_404_A->T 0.351438 379 chr1:16356522:A:G 1935_1231_411_T->A 0.0533147 379 chr1:16356531:G:A 1935_1240_414_V->I 0.0533147 379 chr1:16356971:C:T 1935_1295_432_S->L 0.00119808 379 chr1:16357061:T:C 1935_1385_462_V->A 0.000199681 379 chr1:16357097:C:T 1935_1421_474_P->L 0.000199681 379 chr1:16357117:A:G 1935_1441_481_I->V 0.000399361 379 chr1:16357147:C:T 1935_1471_491_R->W 0.0535144 379 chr1:16357159:C:T 1935_1483_495_R->C 0.00239617 379 chr1:16358248:A:G 1935_1537_513_T->A 0.00359425 379 chr1:16358251:A:G 1935_1540_514_T->A 0.000199681 379 chr1:16358993:C:T 1935_1772_591_T->M 0.000199681 379 chr1:16359016:C:T 1935_1795_599_H->Y 0.000199681 379 chr1:16359674:C:T 1935_1810_604_L->F 0.00279553 379 chr1:16359717:G:A 1935_1853_618_R->Q 0.00439297 379 chr1:16360137:C:T 1935_1919_640_P->L 0.0605032 379 na12878 Variants: 379 chr1:16354590:A:T 1935_815_272_Y->F 379 chr1:16360137:C:T 1935_1919_640_P->L 379 chr1:16356501:G:A 1935_1210_404_A->T 379 chr1:16357147:C:T 1935_1471_491_R->W 379 snyder Variants: 379 chr1:16354590:A:T 1935_815_272_Y->F 379 chr1:16356501:G:A 1935_1210_404_A->T 380 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186510_ENST00000331433 gene_Name: CLCKA_HUMAN 380 list of pdbs: 380 2PFI pdb_description: 19-Jun-07 X-ray 1.600 Crystal structure of the cytoplasmic domain of the human chloride channel clc-ka 380 Zimmer Variants: 380 chr1:16354590:A:T 2064_944_315_Y->F 380 chr1:16351275:A:G 2064_247_83_R->G 380 chr1:16356501:G:A 2064_1339_447_A->T 380 HGMD Variants: 380 chr1:16353927:C:T 2064_778_260_Q->* 380 chr1:16351268:G:C 2064_240_80_W->C 380 chr1:16351275:A:G 2064_247_83_R->G 380 chr1:16356501:G:A 2064_1339_447_A->T 380 oneKG Variants: 380 chr1:16349169:C:T 2064_55_19_Q->* 0.000199681 380 chr1:16354543:C:G 2064_897_299_Y->* 0.000199681 380 chr1:16354556:C:T 2064_910_304_R->* 0.000199681 380 chr1:16349136:C:T 2064_22_8_R->C 0.000199681 380 chr1:16349137:G:A 2064_23_8_R->H 0.0121805 380 chr1:16349185:C:A 2064_71_24_P->H 0.000199681 380 chr1:16349203:G:A 2064_89_30_R->Q 0.000199681 380 chr1:16350328:G:A 2064_134_45_R->H 0.00319489 380 chr1:16350334:G:A 2064_140_47_G->E 0.000199681 380 chr1:16350366:G:T 2064_172_58_V->L 0.000599042 380 chr1:16350393:A:G 2064_199_67_M->V 0.000199681 380 chr1:16350417:G:T 2064_223_75_V->F 0.00379393 380 chr1:16350421:G:A 2064_227_76_R->Q 0.000199681 380 chr1:16351266:T:G 2064_238_80_W->G 0.00159744 380 chr1:16351275:A:G 2064_247_83_R->G 0.357029 380 chr1:16351338:G:A 2064_310_104_V->I 0.00399361 380 chr1:16352680:G:A 2064_436_146_A->T 0.000199681 380 chr1:16353038:T:C 2064_506_169_F->S 0.000199681 380 chr1:16353828:A:G 2064_679_227_M->V 0.000199681 380 chr1:16353896:A:G 2064_747_249_I->M 0.000399361 380 chr1:16353903:C:T 2064_754_252_L->F 0.000199681 380 chr1:16354325:C:A 2064_791_264_T->N 0.00179712 380 chr1:16354354:G:A 2064_820_274_D->N 0.000199681 380 chr1:16354369:C:A 2064_835_279_L->M 0.000199681 380 chr1:16354394:C:T 2064_860_287_A->V 0.0173722 380 chr1:16354581:C:T 2064_935_312_T->I 0.00239617 380 chr1:16354590:A:T 2064_944_315_Y->F 0.154553 380 chr1:16355287:C:G 2064_1000_334_L->V 0.0101837 380 chr1:16355314:G:A 2064_1027_343_G->S 0.000798722 380 chr1:16355318:T:C 2064_1031_344_V->A 0.000798722 380 chr1:16355324:A:G 2064_1037_346_H->R 0.000798722 380 chr1:16355638:T:A 2064_1071_357_H->Q 0.0858626 380 chr1:16355714:G:T 2064_1147_383_D->Y 0.000798722 380 chr1:16355737:A:T 2064_1170_390_E->D 0.000199681 380 chr1:16355750:C:T 2064_1183_395_R->W 0.000199681 380 chr1:16355763:T:A 2064_1196_399_F->Y 0.000599042 380 chr1:16356498:G:A 2064_1336_446_V->I 0.000399361 380 chr1:16356501:G:A 2064_1339_447_A->T 0.351438 380 chr1:16356522:A:G 2064_1360_454_T->A 0.0533147 380 chr1:16356531:G:A 2064_1369_457_V->I 0.0533147 380 chr1:16356971:C:T 2064_1424_475_S->L 0.00119808 380 chr1:16357061:T:C 2064_1514_505_V->A 0.000199681 380 chr1:16357097:C:T 2064_1550_517_P->L 0.000199681 380 chr1:16357117:A:G 2064_1570_524_I->V 0.000399361 380 chr1:16357147:C:T 2064_1600_534_R->W 0.0535144 380 chr1:16357159:C:T 2064_1612_538_R->C 0.00239617 380 chr1:16358248:A:G 2064_1666_556_T->A 0.00359425 380 chr1:16358251:A:G 2064_1669_557_T->A 0.000199681 380 chr1:16358993:C:T 2064_1901_634_T->M 0.000199681 380 chr1:16359016:C:T 2064_1924_642_H->Y 0.000199681 380 chr1:16359674:C:T 2064_1939_647_L->F 0.00279553 380 chr1:16359717:G:A 2064_1982_661_R->Q 0.00439297 380 chr1:16360137:C:T 2064_2048_683_P->L 0.0605032 380 na12878 Variants: 380 chr1:16354590:A:T 2064_944_315_Y->F 380 chr1:16360137:C:T 2064_2048_683_P->L 380 chr1:16351275:A:G 2064_247_83_R->G 380 chr1:16356501:G:A 2064_1339_447_A->T 380 chr1:16357147:C:T 2064_1600_534_R->W 380 snyder Variants: 380 chr1:16354590:A:T 2064_944_315_Y->F 380 chr1:16351275:A:G 2064_247_83_R->G 380 chr1:16356501:G:A 2064_1339_447_A->T 381 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198734_ENST00000367797 gene_Name: FA5_HUMAN 381 list of pdbs: 381 3S9C pdb_description: 07-Sep-11 X-ray 1.800 Russell's viper venom serine proteinase, rvv-v in complex wi fragment (residues 1533-1546) of human factor v 381 3P70 pdb_description: 28-Sep-11 X-ray 2.550 Structural basis of thrombin-mediated factor v activation: e role of the hirudin-like sequence glu666-glu672 for process heavy chain-b domain junction 381 3P6Z pdb_description: 15-Jun-11 X-ray 1.700 Structural basis of thrombin mediated factor v activation: e role of the hirudin-like sequence glu666-glu672 for process heavy chain-b domain junction 381 1Y61 pdb_description: 20-Sep-05 Theoret model Coagulation factor va model 381 1FV4 pdb_description: 27-Sep-00 Theoret model Three dimensional model of coagulation factor va 381 1CZV pdb_description: 26-Nov-99 X-ray 2.400 Crystal structure of the c2 domain of human coagulation factor v: dimeric crystal form 381 1CZT pdb_description: 26-Nov-99 X-ray 1.870 Crystal structure of the c2 domain of human coagulation factor v 381 1CZS pdb_description: 26-Nov-99 X-ray 1.900 Crystal structure of the c2 domain of human coagulation factor v: complex with phenylmercury 381 Zimmer Variants: 381 chr1:169519049:T:C 6675_1601_534_Q->R;GENE=F5;CDSS=2;DBRECUR=F5 381 chr1:169510475:G:T 6675_3853_1285_L->I;GENE=F5;CDSS=1;DBRECUR=F5 381 HGMD Variants: 381 chr1:169487738:G:T 6675_6257_2086_S->* 381 chr1:169489812:G:A 6675_6139_2047_R->* 381 chr1:169495209:C:T 6675_5646_1882_W->* 381 chr1:169505815:G:A 6675_4900_1634_R->* 381 chr1:169509971:G:A 6675_4357_1453_Q->* 381 chr1:169510847:G:A 6675_3481_1161_R->* 381 chr1:169510919:G:A 6675_3409_1137_Q->* 381 chr1:169511240:G:A 6675_3088_1030_R->* 381 chr1:169511291:G:A 6675_3037_1013_Q->* 381 chr1:169511556:C:T 6675_2772_924_W->* 381 chr1:169511927:G:A 6675_2401_801_Q->* 381 chr1:169512110:G:A 6675_2218_740_R->* 381 chr1:169515809:G:A 6675_1633_545_Q->* 381 chr1:169519224:G:A 6675_1426_476_Q->* 381 chr1:169524526:T:A 6675_1012_338_K->* 381 chr1:169528415:C:A 6675_706_236_G->* 381 chr1:169529939:C:A 6675_439_147_E->* 381 chr1:169483561:T:C 6675_6665_2222_D->G 381 chr1:169483568:C:A 6675_6658_2220_G->C 381 chr1:169483573:A:G 6675_6653_2218_L->P 381 chr1:169483621:C:A 6675_6605_2202_R->L 381 chr1:169483622:G:A 6675_6604_2202_R->C 381 chr1:169483642:G:A 6675_6584_2195_P->L 381 chr1:169484791:C:T 6675_6419_2140_G->D 381 chr1:169484834:C:A 6675_6376_2126_D->Y 381 chr1:169487675:C:A 6675_6320_2107_G->V 381 chr1:169487690:C:T 6675_6305_2102_R->H 381 chr1:169487691:G:A 6675_6304_2102_R->C 381 chr1:169487702:G:A 6675_6293_2098_P->L 381 chr1:169487783:C:A 6675_6212_2071_G->V 381 chr1:169489772:C:T 6675_6179_2060_G->D 381 chr1:169489851:G:C 6675_6100_2034_P->A 381 chr1:169492458:C:T 6675_6025_2009_G->R 381 chr1:169492583:A:T 6675_5900_1967_M->K 381 chr1:169493089:A:G 6675_5842_1948_W->R 381 chr1:169493142:C:T 6675_5789_1930_G->D 381 chr1:169495162:G:A 6675_5693_1898_T->M 381 chr1:169495216:C:A 6675_5639_1880_G->V 381 chr1:169497206:A:G 6675_5546_1849_L->S 381 chr1:169497231:C:T 6675_5521_1841_V->M 381 chr1:169497306:G:A 6675_5446_1816_P->S 381 chr1:169498846:C:T 6675_5419_1807_A->T 381 chr1:169498846:C:T 6675_5419_1807_A->T 381 chr1:169498857:T:C 6675_5408_1803_H->R 381 chr1:169498947:A:T 6675_5318_1773_F->Y 381 chr1:169498975:T:C 6675_5290_1764_M->V 381 chr1:169499029:C:T 6675_5236_1746_G->S 381 chr1:169500043:T:C 6675_5189_1730_Y->C 381 chr1:169500056:G:A 6675_5176_1726_R->W 381 chr1:169500223:A:C 6675_5009_1670_L->R 381 chr1:169500256:C:G 6675_4976_1659_R->P 381 chr1:169505778:G:C 6675_4937_1646_P->R 381 chr1:169505809:C:T 6675_4906_1636_E->K 381 chr1:169505848:A:C 6675_4867_1623_Y->D 381 chr1:169510118:G:A 6675_4210_1404_P->S 381 chr1:169510348:T:C 6675_3980_1327_H->R 381 chr1:169510483:T:C 6675_3845_1282_H->R 381 chr1:169510729:C:A 6675_3599_1200_S->I 381 chr1:169511390:G:A 6675_2938_980_R->C 381 chr1:169511585:T:A 6675_2743_915_T->S 381 chr1:169511740:G:C 6675_2588_863_A->G 381 chr1:169511755:T:C 6675_2573_858_K->R 381 chr1:169511978:T:C 6675_2350_784_S->G 381 chr1:169512246:C:G 6675_2082_694_E->D 381 chr1:169512277:C:T 6675_2051_684_C->Y 381 chr1:169512296:T:C 6675_2032_678_K->E 381 chr1:169512352:C:T 6675_1976_659_G->E 381 chr1:169513672:A:G 6675_1837_613_C->R 381 chr1:169515769:T:G 6675_1673_558_Y->S 381 chr1:169515788:C:G 6675_1654_552_D->H 381 chr1:169519039:C:A 6675_1611_537_Q->H 381 chr1:169519049:T:C 6675_1601_534_Q->R 381 chr1:169519088:C:T 6675_1562_521_G->E 381 chr1:169519089:C:T 6675_1561_521_G->R 381 chr1:169519112:C:T 6675_1538_513_R->K 381 chr1:169519152:A:C 6675_1498_500_C->G 381 chr1:169519239:T:A 6675_1411_471_M->L,1 381 chr1:169519940:A:G 6675_1334_445_I->T 381 chr1:169519953:G:A 6675_1321_441_R->C 381 chr1:169521833:C:A 6675_1258_420_G->C 381 chr1:169521853:A:G 6675_1238_413_M->T 381 chr1:169521931:A:G 6675_1160_387_I->T 381 chr1:169521963:C:A 6675_1128_376_R->S 381 chr1:169524474:G:A 6675_1064_355_A->V 381 chr1:169524479:G:C 6675_1059_353_F->L 381 chr1:169524537:C:G 6675_1001_334_R->T 381 chr1:169524538:T:C 6675_1000_334_R->G 381 chr1:169525925:C:T 6675_911_304_G->E 381 chr1:169526003:T:C 6675_833_278_Q->R 381 chr1:169526051:G:C 6675_785_262_S->W 381 chr1:169526051:G:A 6675_785_262_S->L 381 chr1:169526060:C:T 6675_776_259_G->E 381 chr1:169526073:A:G 6675_763_255_W->R 381 chr1:169526090:G:A 6675_746_249_A->V 381 chr1:169528423:G:C 6675_698_233_T->R 381 chr1:169528429:A:C 6675_692_231_M->R 381 chr1:169528468:A:G 6675_653_218_F->S 381 chr1:169528474:G:A 6675_647_216_A->V 381 chr1:169529800:C:G 6675_578_193_C->S 381 chr1:169529854:T:C 6675_524_175_H->R 381 chr1:169529899:G:C 6675_479_160_P->R 381 chr1:169529975:C:T 6675_403_135_A->T 381 chr1:169541477:A:T 6675_355_119_Y->N 381 chr1:169541513:C:G 6675_319_107_D->H 381 chr1:169541546:C:G 6675_286_96_D->H 381 chr1:169541549:C:T 6675_283_95_G->R 381 chr1:169541563:A:G 6675_269_90_L->S 381 oneKG Variants: 381 chr1:169498890:C:T 6675_5375_1792_W->* 0.000199681 381 chr1:169483561:T:C 6675_6665_2222_D->G 0.0453275 381 chr1:169483588:G:A 6675_6638_2213_A->V 0.000199681 381 chr1:169483672:T:C 6675_6554_2185_K->R 0.00279553 381 chr1:169484726:C:T 6675_6484_2162_V->M 0.000199681 381 chr1:169484758:T:C 6675_6452_2151_K->R 0.000199681 381 chr1:169484767:A:G 6675_6443_2148_M->T 0.0113818 381 chr1:169487673:G:A 6675_6322_2108_R->C 0.000199681 381 chr1:169487736:A:G 6675_6259_2087_F->L 0.000199681 381 chr1:169489864:C:A 6675_6087_2029_E->D 0.000199681 381 chr1:169492453:G:C 6675_6030_2010_N->K 0.000199681 381 chr1:169494140:C:T 6675_5723_1908_R->K 0.000199681 381 chr1:169497194:C:A 6675_5558_1853_G->V 0.00299521 381 chr1:169497292:C:T 6675_5460_1820_M->I 0.00758786 381 chr1:169497314:T:C 6675_5438_1813_Y->C 0.000199681 381 chr1:169497321:T:A 6675_5431_1811_M->L 0.000599042 381 chr1:169498882:T:G 6675_5383_1795_T->P 0.000199681 381 chr1:169498939:A:T 6675_5326_1776_F->I 0.000199681 381 chr1:169498975:T:C 6675_5290_1764_M->V 0.308706 381 chr1:169498980:A:T 6675_5285_1762_M->K 0.000199681 381 chr1:169499020:G:C 6675_5245_1749_L->V 0.00239617 381 chr1:169499034:A:G 6675_5231_1744_L->S 0.000199681 381 chr1:169500056:G:A 6675_5176_1726_R->W 0.000199681 381 chr1:169500067:C:T 6675_5165_1722_G->D 0.000199681 381 chr1:169500173:C:T 6675_5059_1687_E->K 0.000199681 381 chr1:169500178:G:C 6675_5054_1685_T->S 0.00239617 381 chr1:169500232:G:A 6675_5000_1667_P->L 0.000199681 381 chr1:169505872:A:G 6675_4843_1615_Y->H 0.000199681 381 chr1:169505880:T:A 6675_4835_1612_D->V 0.000798722 381 chr1:169505902:C:G 6675_4813_1605_D->H 0.000199681 381 chr1:169509604:T:C 6675_4724_1575_N->S 0.000199681 381 chr1:169509652:T:C 6675_4676_1559_N->S 0.000199681 381 chr1:169509691:T:C 6675_4637_1546_Y->C 0.000199681 381 chr1:169509698:C:A 6675_4630_1544_V->L 0.000199681 381 chr1:169509739:T:G 6675_4589_1530_E->A 0.00139776 381 chr1:169509760:A:G 6675_4568_1523_I->T 0.000199681 381 chr1:169509781:C:A 6675_4547_1516_S->I 0.000199681 381 chr1:169509832:T:C 6675_4496_1499_N->S 0.000199681 381 chr1:169509923:A:G 6675_4405_1469_S->P 0.000199681 381 chr1:169509931:G:T 6675_4397_1466_P->H 0.000998403 381 chr1:169509968:T:G 6675_4360_1454_I->L 0.000199681 381 chr1:169510019:T:A 6675_4309_1437_T->S 0.000399361 381 chr1:169510024:T:C 6675_4304_1435_Q->R 0.000199681 381 chr1:169510109:C:T 6675_4219_1407_D->N 0.000199681 381 chr1:169510118:G:A 6675_4210_1404_P->S 0.0940495 381 chr1:169510139:G:A 6675_4189_1397_L->F 0.172324 381 chr1:169510202:A:G 6675_4126_1376_S->P 0.000199681 381 chr1:169510206:G:C 6675_4122_1374_N->K 0.000199681 381 chr1:169510221:G:T 6675_4107_1369_D->E 0.000199681 381 chr1:169510264:A:G 6675_4064_1355_M->T 0.000199681 381 chr1:169510314:G:C 6675_4014_1338_N->K 0.000199681 381 chr1:169510328:A:G 6675_4000_1334_F->L 0.000599042 381 chr1:169510348:T:C 6675_3980_1327_H->R 0.0455272 381 chr1:169510360:G:A 6675_3968_1323_P->L 0.0 381 chr1:169510376:G:T 6675_3952_1318_Q->K 0.00319489 381 chr1:169510379:C:T 6675_3949_1317_G->S 0.000199681 381 chr1:169510475:G:T 6675_3853_1285_L->I 0.164736 381 chr1:169510477:G:A 6675_3851_1284_T->I 0.00119808 381 chr1:169510483:T:C 6675_3845_1282_H->R 0.00419329 381 chr1:169510484:G:T 6675_3844_1282_H->N 0.000199681 381 chr1:169510502:G:T 6675_3826_1276_L->I 0.000199681 381 chr1:169510552:G:T 6675_3776_1259_S->Y 0.00259585 381 chr1:169510589:T:C 6675_3739_1247_T->A 0.000199681 381 chr1:169510592:G:A 6675_3736_1246_H->Y 0.000199681 381 chr1:169510627:T:A 6675_3701_1234_D->V 0.000199681 381 chr1:169510649:C:G 6675_3679_1227_G->R 0.000399361 381 chr1:169510698:G:T 6675_3630_1210_H->Q 0.000399361 381 chr1:169510706:G:A 6675_3622_1208_L->F 0.000199681 381 chr1:169510774:A:T 6675_3554_1185_V->D 0.000199681 381 chr1:169510784:A:T 6675_3544_1182_W->R 0.000199681 381 chr1:169510792:T:C 6675_3536_1179_H->R 0.000199681 381 chr1:169510873:T:G 6675_3455_1152_E->A 0.000599042 381 chr1:169510882:G:A 6675_3446_1149_S->F 0.000599042 381 chr1:169510890:G:C 6675_3438_1146_H->Q 0.0223642 381 chr1:169510964:G:A 6675_3364_1122_P->S 0.000199681 381 chr1:169511017:G:T 6675_3311_1104_S->Y 0.000798722 381 chr1:169511071:A:G 6675_3257_1086_L->S 0.000399361 381 chr1:169511117:G:A 6675_3211_1071_H->Y 0.000199681 381 chr1:169511166:T:G 6675_3162_1054_E->D 0.00199681 381 chr1:169511281:C:T 6675_3047_1016_G->E 0.000199681 381 chr1:169511389:C:A 6675_2939_980_R->L 0.00319489 381 chr1:169511390:G:A 6675_2938_980_R->C 0.000199681 381 chr1:169511422:T:C 6675_2906_969_N->S 0.00299521 381 chr1:169511429:C:T 6675_2899_967_A->T 0.000399361 381 chr1:169511555:T:C 6675_2773_925_K->E 0.26278 381 chr1:169511576:G:A 6675_2752_918_P->S 0.000599042 381 chr1:169511584:G:A 6675_2744_915_T->I 0.000199681 381 chr1:169511585:T:A 6675_2743_915_T->S 0.00579073 381 chr1:169511593:C:A 6675_2735_912_S->I 0.000199681 381 chr1:169511627:G:T 6675_2701_901_P->T 0.000199681 381 chr1:169511660:C:A 6675_2668_890_V->F 0.000199681 381 chr1:169511734:T:C 6675_2594_865_H->R 0.26278 381 chr1:169511755:T:C 6675_2573_858_K->R 0.266773 381 chr1:169511878:T:G 6675_2450_817_N->T 0.0455272 381 chr1:169511903:G:A 6675_2425_809_P->S 0.029353 381 chr1:169511989:G:A 6675_2339_780_P->L 0.000199681 381 chr1:169512007:C:G 6675_2321_774_G->A 0.000199681 381 chr1:169512036:G:T 6675_2292_764_F->L 0.000199681 381 chr1:169512106:T:C 6675_2222_741_N->S 0.000199681 381 chr1:169512193:C:T 6675_2135_712_R->H 0.000199681 381 chr1:169512199:T:C 6675_2129_710_H->R 0.00339457 381 chr1:169512209:G:A 6675_2119_707_R->W 0.000199681 381 chr1:169512223:G:A 6675_2105_702_T->I 0.0103834 381 chr1:169512296:T:C 6675_2032_678_K->E 0.000798722 381 chr1:169512306:C:A 6675_2022_674_K->N 0.000199681 381 chr1:169512313:C:G 6675_2015_672_S->T 0.000199681 381 chr1:169512319:G:C 6675_2009_670_P->R 0.000399361 381 chr1:169512332:T:C 6675_1996_666_M->V 0.000199681 381 chr1:169513569:C:T 6675_1940_647_R->H 0.000199681 381 chr1:169513570:G:A 6675_1939_647_R->C 0.000199681 381 chr1:169513638:A:G 6675_1871_624_I->T 0.000199681 381 chr1:169513656:T:G 6675_1853_618_Q->P 0.000399361 381 chr1:169515807:C:G 6675_1635_545_Q->H 0.000399361 381 chr1:169519049:T:C 6675_1601_534_Q->R 0.00599 381 chr1:169519112:C:T 6675_1538_513_R->K 0.263578 381 chr1:169519883:G:A 6675_1391_464_T->I 0.000399361 381 chr1:169519974:C:T 6675_1300_434_V->M 0.000199681 381 chr1:169521853:A:G 6675_1238_413_M->T 0.0501198 381 chr1:169524479:G:C 6675_1059_353_F->L 0.000399361 381 chr1:169524504:C:T 6675_1034_345_R->Q 0.000199681 381 chr1:169524517:G:A 6675_1021_341_R->C 0.000399361 381 chr1:169524537:C:G 6675_1001_334_R->T 0.000199681 381 chr1:169524538:T:C 6675_1000_334_R->G 0.00199681 381 chr1:169524552:C:A 6675_986_329_C->F 0.000199681 381 chr1:169525898:G:A 6675_938_313_P->L 0.000199681 381 chr1:169525976:G:T 6675_860_287_T->N 0.000199681 381 chr1:169528493:G:T 6675_628_210_Q->K 0.000798722 381 chr1:169529812:G:A 6675_566_189_P->L 0.000199681 381 chr1:169529840:C:T 6675_538_180_E->K 0.000199681 381 chr1:169529854:T:C 6675_524_175_H->R 0.00199681 381 chr1:169529956:G:A 6675_422_141_A->V 0.000199681 381 chr1:169529965:A:G 6675_413_138_M->T 0.000199681 381 chr1:169529974:G:A 6675_404_135_A->V 0.000199681 381 chr1:169541488:T:C 6675_344_115_Q->R 0.000199681 381 chr1:169541504:A:C 6675_328_110_L->V 0.000199681 381 chr1:169541513:C:G 6675_319_107_D->H 0.127396 381 chr1:169555489:G:C 6675_136_46_R->G 0.0 381 chr1:169555513:C:A 6675_112_38_A->S 0.000399361 381 chr1:169555519:C:T 6675_106_36_V->M 0.000599042 381 chr1:169555543:C:T 6675_82_28_A->T 0.000199681 381 chr1:169555582:C:T 6675_43_15_G->S 0.0189696 381 na12878 Variants: 381 chr1:169483561:T:C 6675_6665_2222_D->G 381 chr1:169510348:T:C 6675_3980_1327_H->R 381 chr1:169511878:T:G 6675_2450_817_N->T 381 chr1:169519049:T:C 6675_1601_534_Q->R 381 chr1:169498975:T:C 6675_5290_1764_M->V 381 chr1:169511555:T:C 6675_2773_925_K->E 381 chr1:169511734:T:C 6675_2594_865_H->R 381 chr1:169511755:T:C 6675_2573_858_K->R 381 snyder Variants: 381 chr1:169519049:T:C 6675_1601_534_Q->R 381 chr1:169541513:C:G 6675_319_107_D->H 381 chr1:169510475:G:T 6675_3853_1285_L->I 382 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198734_ENST00000367796 gene_Name: FA5_HUMAN 382 list of pdbs: 382 3S9C pdb_description: 07-Sep-11 X-ray 1.800 Russell's viper venom serine proteinase, rvv-v in complex wi fragment (residues 1533-1546) of human factor v 382 3P70 pdb_description: 28-Sep-11 X-ray 2.550 Structural basis of thrombin-mediated factor v activation: e role of the hirudin-like sequence glu666-glu672 for process heavy chain-b domain junction 382 3P6Z pdb_description: 15-Jun-11 X-ray 1.700 Structural basis of thrombin mediated factor v activation: e role of the hirudin-like sequence glu666-glu672 for process heavy chain-b domain junction 382 1Y61 pdb_description: 20-Sep-05 Theoret model Coagulation factor va model 382 1FV4 pdb_description: 27-Sep-00 Theoret model Three dimensional model of coagulation factor va 382 1CZV pdb_description: 26-Nov-99 X-ray 2.400 Crystal structure of the c2 domain of human coagulation factor v: dimeric crystal form 382 1CZT pdb_description: 26-Nov-99 X-ray 1.870 Crystal structure of the c2 domain of human coagulation factor v 382 1CZS pdb_description: 26-Nov-99 X-ray 1.900 Crystal structure of the c2 domain of human coagulation factor v: complex with phenylmercury 382 Zimmer Variants: 382 chr1:169519049:T:C 6690_1601_534_Q->R 382 chr1:169510475:G:T 6690_3868_1290_L->I 382 HGMD Variants: 382 chr1:169487738:G:T 6690_6272_2091_S->* 382 chr1:169489812:G:A 6690_6154_2052_R->* 382 chr1:169495209:C:T 6690_5661_1887_W->* 382 chr1:169505815:G:A 6690_4915_1639_R->* 382 chr1:169509971:G:A 6690_4372_1458_Q->* 382 chr1:169510847:G:A 6690_3496_1166_R->* 382 chr1:169510919:G:A 6690_3424_1142_Q->* 382 chr1:169511240:G:A 6690_3103_1035_R->* 382 chr1:169511291:G:A 6690_3052_1018_Q->* 382 chr1:169511556:C:T 6690_2787_929_W->* 382 chr1:169511927:G:A 6690_2416_806_Q->* 382 chr1:169512110:G:A 6690_2233_745_R->* 382 chr1:169515809:G:A 6690_1633_545_Q->* 382 chr1:169519224:G:A 6690_1426_476_Q->* 382 chr1:169524526:T:A 6690_1012_338_K->* 382 chr1:169528415:C:A 6690_706_236_G->* 382 chr1:169529939:C:A 6690_439_147_E->* 382 chr1:169483561:T:C 6690_6680_2227_D->G 382 chr1:169483568:C:A 6690_6673_2225_G->C 382 chr1:169483573:A:G 6690_6668_2223_L->P 382 chr1:169483621:C:A 6690_6620_2207_R->L 382 chr1:169483622:G:A 6690_6619_2207_R->C 382 chr1:169483642:G:A 6690_6599_2200_P->L 382 chr1:169484791:C:T 6690_6434_2145_G->D 382 chr1:169484834:C:A 6690_6391_2131_D->Y 382 chr1:169487675:C:A 6690_6335_2112_G->V 382 chr1:169487690:C:T 6690_6320_2107_R->H 382 chr1:169487691:G:A 6690_6319_2107_R->C 382 chr1:169487702:G:A 6690_6308_2103_P->L 382 chr1:169487783:C:A 6690_6227_2076_G->V 382 chr1:169489772:C:T 6690_6194_2065_G->D 382 chr1:169489851:G:C 6690_6115_2039_P->A 382 chr1:169492458:C:T 6690_6040_2014_G->R 382 chr1:169492583:A:T 6690_5915_1972_M->K 382 chr1:169493089:A:G 6690_5857_1953_W->R 382 chr1:169493142:C:T 6690_5804_1935_G->D 382 chr1:169495162:G:A 6690_5708_1903_T->M 382 chr1:169495216:C:A 6690_5654_1885_G->V 382 chr1:169497206:A:G 6690_5561_1854_L->S 382 chr1:169497231:C:T 6690_5536_1846_V->M 382 chr1:169497306:G:A 6690_5461_1821_P->S 382 chr1:169498846:C:T 6690_5434_1812_A->T 382 chr1:169498846:C:T 6690_5434_1812_A->T 382 chr1:169498857:T:C 6690_5423_1808_H->R 382 chr1:169498947:A:T 6690_5333_1778_F->Y 382 chr1:169498975:T:C 6690_5305_1769_M->V 382 chr1:169499029:C:T 6690_5251_1751_G->S 382 chr1:169500043:T:C 6690_5204_1735_Y->C 382 chr1:169500056:G:A 6690_5191_1731_R->W 382 chr1:169500223:A:C 6690_5024_1675_L->R 382 chr1:169500256:C:G 6690_4991_1664_R->P 382 chr1:169505778:G:C 6690_4952_1651_P->R 382 chr1:169505809:C:T 6690_4921_1641_E->K 382 chr1:169505848:A:C 6690_4882_1628_Y->D 382 chr1:169510118:G:A 6690_4225_1409_P->S 382 chr1:169510348:T:C 6690_3995_1332_H->R 382 chr1:169510483:T:C 6690_3860_1287_H->R 382 chr1:169510729:C:A 6690_3614_1205_S->I 382 chr1:169511390:G:A 6690_2953_985_R->C 382 chr1:169511585:T:A 6690_2758_920_T->S 382 chr1:169511740:G:C 6690_2603_868_A->G 382 chr1:169511755:T:C 6690_2588_863_K->R 382 chr1:169511978:T:C 6690_2365_789_S->G 382 chr1:169512246:C:G 6690_2097_699_E->D 382 chr1:169512277:C:T 6690_2066_689_C->Y 382 chr1:169512296:T:C 6690_2047_683_K->E 382 chr1:169512352:C:T 6690_1991_664_G->E 382 chr1:169513672:A:G 6690_1852_618_C->R 382 chr1:169515769:T:G 6690_1673_558_Y->S 382 chr1:169515788:C:G 6690_1654_552_D->H 382 chr1:169519039:C:A 6690_1611_537_Q->H 382 chr1:169519049:T:C 6690_1601_534_Q->R 382 chr1:169519088:C:T 6690_1562_521_G->E 382 chr1:169519089:C:T 6690_1561_521_G->R 382 chr1:169519112:C:T 6690_1538_513_R->K 382 chr1:169519152:A:C 6690_1498_500_C->G 382 chr1:169519239:T:A 6690_1411_471_M->L 382 chr1:169519940:A:G 6690_1334_445_I->T 382 chr1:169519953:G:A 6690_1321_441_R->C 382 chr1:169521833:C:A 6690_1258_420_G->C 382 chr1:169521853:A:G 6690_1238_413_M->T 382 chr1:169521931:A:G 6690_1160_387_I->T 382 chr1:169521963:C:A 6690_1128_376_R->S 382 chr1:169524474:G:A 6690_1064_355_A->V 382 chr1:169524479:G:C 6690_1059_353_F->L 382 chr1:169524537:C:G 6690_1001_334_R->T 382 chr1:169524538:T:C 6690_1000_334_R->G 382 chr1:169525925:C:T 6690_911_304_G->E 382 chr1:169526003:T:C 6690_833_278_Q->R 382 chr1:169526051:G:C 6690_785_262_S->W 382 chr1:169526051:G:A 6690_785_262_S->L 382 chr1:169526060:C:T 6690_776_259_G->E 382 chr1:169526073:A:G 6690_763_255_W->R 382 chr1:169526090:G:A 6690_746_249_A->V 382 chr1:169528423:G:C 6690_698_233_T->R 382 chr1:169528429:A:C 6690_692_231_M->R 382 chr1:169528468:A:G 6690_653_218_F->S 382 chr1:169528474:G:A 6690_647_216_A->V 382 chr1:169529800:C:G 6690_578_193_C->S 382 chr1:169529854:T:C 6690_524_175_H->R 382 chr1:169529899:G:C 6690_479_160_P->R 382 chr1:169529975:C:T 6690_403_135_A->T 382 chr1:169541477:A:T 6690_355_119_Y->N 382 chr1:169541513:C:G 6690_319_107_D->H 382 chr1:169541546:C:G 6690_286_96_D->H 382 chr1:169541549:C:T 6690_283_95_G->R 382 chr1:169541563:A:G 6690_269_90_L->S 382 oneKG Variants: 382 chr1:169498890:C:T 6690_5390_1797_W->* 0.000199681 382 chr1:169483561:T:C 6690_6680_2227_D->G 0.0453275 382 chr1:169483588:G:A 6690_6653_2218_A->V 0.000199681 382 chr1:169483672:T:C 6690_6569_2190_K->R 0.00279553 382 chr1:169484726:C:T 6690_6499_2167_V->M 0.000199681 382 chr1:169484758:T:C 6690_6467_2156_K->R 0.000199681 382 chr1:169484767:A:G 6690_6458_2153_M->T 0.0113818 382 chr1:169487673:G:A 6690_6337_2113_R->C 0.000199681 382 chr1:169487736:A:G 6690_6274_2092_F->L 0.000199681 382 chr1:169489864:C:A 6690_6102_2034_E->D 0.000199681 382 chr1:169492453:G:C 6690_6045_2015_N->K 0.000199681 382 chr1:169494140:C:T 6690_5738_1913_R->K 0.000199681 382 chr1:169497194:C:A 6690_5573_1858_G->V 0.00299521 382 chr1:169497292:C:T 6690_5475_1825_M->I 0.00758786 382 chr1:169497314:T:C 6690_5453_1818_Y->C 0.000199681 382 chr1:169497321:T:A 6690_5446_1816_M->L 0.000599042 382 chr1:169498882:T:G 6690_5398_1800_T->P 0.000199681 382 chr1:169498939:A:T 6690_5341_1781_F->I 0.000199681 382 chr1:169498975:T:C 6690_5305_1769_M->V 0.308706 382 chr1:169498980:A:T 6690_5300_1767_M->K 0.000199681 382 chr1:169499020:G:C 6690_5260_1754_L->V 0.00239617 382 chr1:169499034:A:G 6690_5246_1749_L->S 0.000199681 382 chr1:169500056:G:A 6690_5191_1731_R->W 0.000199681 382 chr1:169500067:C:T 6690_5180_1727_G->D 0.000199681 382 chr1:169500173:C:T 6690_5074_1692_E->K 0.000199681 382 chr1:169500178:G:C 6690_5069_1690_T->S 0.00239617 382 chr1:169500232:G:A 6690_5015_1672_P->L 0.000199681 382 chr1:169505872:A:G 6690_4858_1620_Y->H 0.000199681 382 chr1:169505880:T:A 6690_4850_1617_D->V 0.000798722 382 chr1:169505902:C:G 6690_4828_1610_D->H 0.000199681 382 chr1:169509604:T:C 6690_4739_1580_N->S 0.000199681 382 chr1:169509652:T:C 6690_4691_1564_N->S 0.000199681 382 chr1:169509691:T:C 6690_4652_1551_Y->C 0.000199681 382 chr1:169509698:C:A 6690_4645_1549_V->L 0.000199681 382 chr1:169509739:T:G 6690_4604_1535_E->A 0.00139776 382 chr1:169509760:A:G 6690_4583_1528_I->T 0.000199681 382 chr1:169509781:C:A 6690_4562_1521_S->I 0.000199681 382 chr1:169509832:T:C 6690_4511_1504_N->S 0.000199681 382 chr1:169509923:A:G 6690_4420_1474_S->P 0.000199681 382 chr1:169509931:G:T 6690_4412_1471_P->H 0.000998403 382 chr1:169509968:T:G 6690_4375_1459_I->L 0.000199681 382 chr1:169510019:T:A 6690_4324_1442_T->S 0.000399361 382 chr1:169510024:T:C 6690_4319_1440_Q->R 0.000199681 382 chr1:169510109:C:T 6690_4234_1412_D->N 0.000199681 382 chr1:169510118:G:A 6690_4225_1409_P->S 0.0940495 382 chr1:169510139:G:A 6690_4204_1402_L->F 0.172324 382 chr1:169510202:A:G 6690_4141_1381_S->P 0.000199681 382 chr1:169510206:G:C 6690_4137_1379_N->K 0.000199681 382 chr1:169510221:G:T 6690_4122_1374_D->E 0.000199681 382 chr1:169510264:A:G 6690_4079_1360_M->T 0.000199681 382 chr1:169510314:G:C 6690_4029_1343_N->K 0.000199681 382 chr1:169510328:A:G 6690_4015_1339_F->L 0.000599042 382 chr1:169510348:T:C 6690_3995_1332_H->R 0.0455272 382 chr1:169510360:G:A 6690_3983_1328_P->L 0.0 382 chr1:169510376:G:T 6690_3967_1323_Q->K 0.00319489 382 chr1:169510379:C:T 6690_3964_1322_G->S 0.000199681 382 chr1:169510475:G:T 6690_3868_1290_L->I 0.164736 382 chr1:169510477:G:A 6690_3866_1289_T->I 0.00119808 382 chr1:169510483:T:C 6690_3860_1287_H->R 0.00419329 382 chr1:169510484:G:T 6690_3859_1287_H->N 0.000199681 382 chr1:169510502:G:T 6690_3841_1281_L->I 0.000199681 382 chr1:169510552:G:T 6690_3791_1264_S->Y 0.00259585 382 chr1:169510589:T:C 6690_3754_1252_T->A 0.000199681 382 chr1:169510592:G:A 6690_3751_1251_H->Y 0.000199681 382 chr1:169510627:T:A 6690_3716_1239_D->V 0.000199681 382 chr1:169510649:C:G 6690_3694_1232_G->R 0.000399361 382 chr1:169510698:G:T 6690_3645_1215_H->Q 0.000399361 382 chr1:169510706:G:A 6690_3637_1213_L->F 0.000199681 382 chr1:169510774:A:T 6690_3569_1190_V->D 0.000199681 382 chr1:169510784:A:T 6690_3559_1187_W->R 0.000199681 382 chr1:169510792:T:C 6690_3551_1184_H->R 0.000199681 382 chr1:169510873:T:G 6690_3470_1157_E->A 0.000599042 382 chr1:169510882:G:A 6690_3461_1154_S->F 0.000599042 382 chr1:169510890:G:C 6690_3453_1151_H->Q 0.0223642 382 chr1:169510964:G:A 6690_3379_1127_P->S 0.000199681 382 chr1:169511017:G:T 6690_3326_1109_S->Y 0.000798722 382 chr1:169511071:A:G 6690_3272_1091_L->S 0.000399361 382 chr1:169511117:G:A 6690_3226_1076_H->Y 0.000199681 382 chr1:169511166:T:G 6690_3177_1059_E->D 0.00199681 382 chr1:169511281:C:T 6690_3062_1021_G->E 0.000199681 382 chr1:169511389:C:A 6690_2954_985_R->L 0.00319489 382 chr1:169511390:G:A 6690_2953_985_R->C 0.000199681 382 chr1:169511422:T:C 6690_2921_974_N->S 0.00299521 382 chr1:169511429:C:T 6690_2914_972_A->T 0.000399361 382 chr1:169511555:T:C 6690_2788_930_K->E 0.26278 382 chr1:169511576:G:A 6690_2767_923_P->S 0.000599042 382 chr1:169511584:G:A 6690_2759_920_T->I 0.000199681 382 chr1:169511585:T:A 6690_2758_920_T->S 0.00579073 382 chr1:169511593:C:A 6690_2750_917_S->I 0.000199681 382 chr1:169511627:G:T 6690_2716_906_P->T 0.000199681 382 chr1:169511660:C:A 6690_2683_895_V->F 0.000199681 382 chr1:169511734:T:C 6690_2609_870_H->R 0.26278 382 chr1:169511755:T:C 6690_2588_863_K->R 0.266773 382 chr1:169511878:T:G 6690_2465_822_N->T 0.0455272 382 chr1:169511903:G:A 6690_2440_814_P->S 0.029353 382 chr1:169511989:G:A 6690_2354_785_P->L 0.000199681 382 chr1:169512007:C:G 6690_2336_779_G->A 0.000199681 382 chr1:169512036:G:T 6690_2307_769_F->L 0.000199681 382 chr1:169512106:T:C 6690_2237_746_N->S 0.000199681 382 chr1:169512193:C:T 6690_2150_717_R->H 0.000199681 382 chr1:169512199:T:C 6690_2144_715_H->R 0.00339457 382 chr1:169512209:G:A 6690_2134_712_R->W 0.000199681 382 chr1:169512223:G:A 6690_2120_707_T->I 0.0103834 382 chr1:169512296:T:C 6690_2047_683_K->E 0.000798722 382 chr1:169512306:C:A 6690_2037_679_K->N 0.000199681 382 chr1:169512313:C:G 6690_2030_677_S->T 0.000199681 382 chr1:169512319:G:C 6690_2024_675_P->R 0.000399361 382 chr1:169512332:T:C 6690_2011_671_M->V 0.000199681 382 chr1:169513569:C:T 6690_1955_652_R->H 0.000199681 382 chr1:169513570:G:A 6690_1954_652_R->C 0.000199681 382 chr1:169513638:A:G 6690_1886_629_I->T 0.000199681 382 chr1:169513656:T:G 6690_1868_623_Q->P 0.000399361 382 chr1:169513755:G:A 6690_1769_590_T->I 0.000199681 382 chr1:169515807:C:G 6690_1635_545_Q->H 0.000399361 382 chr1:169519049:T:C 6690_1601_534_Q->R 0.00599 382 chr1:169519112:C:T 6690_1538_513_R->K 0.263578 382 chr1:169519883:G:A 6690_1391_464_T->I 0.000399361 382 chr1:169519974:C:T 6690_1300_434_V->M 0.000199681 382 chr1:169521853:A:G 6690_1238_413_M->T 0.0501198 382 chr1:169524479:G:C 6690_1059_353_F->L 0.000399361 382 chr1:169524504:C:T 6690_1034_345_R->Q 0.000199681 382 chr1:169524517:G:A 6690_1021_341_R->C 0.000399361 382 chr1:169524537:C:G 6690_1001_334_R->T 0.000199681 382 chr1:169524538:T:C 6690_1000_334_R->G 0.00199681 382 chr1:169524552:C:A 6690_986_329_C->F 0.000199681 382 chr1:169525898:G:A 6690_938_313_P->L 0.000199681 382 chr1:169525976:G:T 6690_860_287_T->N 0.000199681 382 chr1:169528493:G:T 6690_628_210_Q->K 0.000798722 382 chr1:169529812:G:A 6690_566_189_P->L 0.000199681 382 chr1:169529840:C:T 6690_538_180_E->K 0.000199681 382 chr1:169529854:T:C 6690_524_175_H->R 0.00199681 382 chr1:169529956:G:A 6690_422_141_A->V 0.000199681 382 chr1:169529965:A:G 6690_413_138_M->T 0.000199681 382 chr1:169529974:G:A 6690_404_135_A->V 0.000199681 382 chr1:169541488:T:C 6690_344_115_Q->R 0.000199681 382 chr1:169541504:A:C 6690_328_110_L->V 0.000199681 382 chr1:169541513:C:G 6690_319_107_D->H 0.127396 382 chr1:169555489:G:C 6690_136_46_R->G 0.0 382 chr1:169555513:C:A 6690_112_38_A->S 0.000399361 382 chr1:169555519:C:T 6690_106_36_V->M 0.000599042 382 chr1:169555543:C:T 6690_82_28_A->T 0.000199681 382 chr1:169555582:C:T 6690_43_15_G->S 0.0189696 382 na12878 Variants: 382 chr1:169483561:T:C 6690_6680_2227_D->G 382 chr1:169510348:T:C 6690_3995_1332_H->R 382 chr1:169511878:T:G 6690_2465_822_N->T 382 chr1:169519049:T:C 6690_1601_534_Q->R 382 chr1:169498975:T:C 6690_5305_1769_M->V 382 chr1:169511555:T:C 6690_2788_930_K->E 382 chr1:169511734:T:C 6690_2609_870_H->R 382 chr1:169511755:T:C 6690_2588_863_K->R 382 snyder Variants: 382 chr1:169519049:T:C 6690_1601_534_Q->R 382 chr1:169541513:C:G 6690_319_107_D->H 382 chr1:169510475:G:T 6690_3868_1290_L->I 383 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000135828_ENST00000367559 gene_Name: RN5A_HUMAN 383 list of pdbs: 383 4G8L pdb_description: 31-Oct-12 X-ray 2.800 Active state of intact sensor domain of human rnase l with 2 383 4G8K pdb_description: 31-Oct-12 X-ray 2.400 Intact sensor domain of human rnase l in the inactive signal 383 1WDY pdb_description: 05-Oct-04 X-ray 1.800 Crystal structure of ribonuclease 383 Zimmer Variants: 383 chr1:182551337:A:C 2226_1623_541_D->E 383 HGMD Variants: 383 chr1:182555149:C:A 2226_793_265_E->* 383 chr1:182551337:A:C 2226_1623_541_D->E 383 chr1:182554557:C:T 2226_1385_462_R->Q 383 chr1:182554743:C:G 2226_1199_400_R->P 383 chr1:182555203:C:T 2226_739_247_V->M 383 chr1:182555407:C:T 2226_535_179_G->R 383 chr1:182555653:T:G 2226_289_97_I->L 383 chr1:182555767:C:T 2226_175_59_G->S 383 chr1:182555939:C:T 2226_3_1_M->I 383 oneKG Variants: 383 chr1:182555149:C:A 2226_793_265_E->* 0.00179712 383 chr1:182544565:C:T 2226_2188_730_A->T 0.000199681 383 chr1:182544573:C:T 2226_2180_727_C->Y 0.000199681 383 chr1:182544601:G:T 2226_2152_718_Q->K 0.000399361 383 chr1:182544618:T:C 2226_2135_712_Y->C 0.000199681 383 chr1:182544687:G:A 2226_2066_689_S->F 0.000798722 383 chr1:182545431:G:A 2226_1999_667_R->W 0.000199681 383 chr1:182545436:A:C 2226_1994_665_F->C 0.000199681 383 chr1:182545455:C:G 2226_1975_659_V->L 0.000199681 383 chr1:182550385:T:C 2226_1880_627_K->R 0.000199681 383 chr1:182550463:T:C 2226_1802_601_N->S 0.000199681 383 chr1:182550490:C:T 2226_1775_592_R->H 0.000199681 383 chr1:182551188:C:T 2226_1772_591_S->N 0.000199681 383 chr1:182551192:C:T 2226_1768_590_E->K 0.000199681 383 chr1:182551266:C:T 2226_1694_565_R->H 0.000599042 383 chr1:182551267:G:A 2226_1693_565_R->C 0.000199681 383 chr1:182551337:A:C 2226_1623_541_D->E 0.479832 383 chr1:182551366:C:T 2226_1594_532_V->I 0.000199681 383 chr1:182551383:C:T 2226_1577_526_R->Q 0.000199681 383 chr1:182553266:T:C 2226_1516_506_K->E 0.000199681 383 chr1:182553284:G:T 2226_1498_500_H->N 0.000199681 383 chr1:182553289:G:A 2226_1493_498_A->V 0.000399361 383 chr1:182553299:A:G 2226_1483_495_S->P 0.000199681 383 chr1:182554473:T:C 2226_1469_490_N->S 0.000599042 383 chr1:182554493:G:T 2226_1449_483_H->Q 0.000199681 383 chr1:182554557:C:T 2226_1385_462_R->Q 0.230631 383 chr1:182554585:C:T 2226_1357_453_V->M 0.000199681 383 chr1:182554708:G:C 2226_1234_412_R->G 0.000798722 383 chr1:182554711:T:C 2226_1231_411_S->G 0.000199681 383 chr1:182554717:G:T 2226_1225_409_Q->K 0.000199681 383 chr1:182554725:G:A 2226_1217_406_S->F 0.000399361 383 chr1:182554743:C:G 2226_1199_400_R->P 0.000599042 383 chr1:182554744:G:A 2226_1198_400_R->C 0.000199681 383 chr1:182554797:C:T 2226_1145_382_G->E 0.000199681 383 chr1:182554879:G:A 2226_1063_355_R->C 0.000199681 383 chr1:182554883:T:C 2226_1059_353_I->M 0.000199681 383 chr1:182555019:G:A 2226_923_308_A->V 0.000199681 383 chr1:182555062:T:C 2226_880_294_K->E 0.00159744 383 chr1:182555169:A:T 2226_773_258_L->H 0.000399361 383 chr1:182555391:A:G 2226_551_184_L->S 0.000599042 383 chr1:182555506:T:G 2226_436_146_K->Q 0.000199681 383 chr1:182555531:C:G 2226_411_137_K->N 0.000199681 383 chr1:182555577:T:C 2226_365_122_D->G 0.000199681 383 chr1:182555640:A:G 2226_302_101_I->T 0.000199681 383 chr1:182555650:G:A 2226_292_98_L->F 0.000199681 383 chr1:182555653:T:C,G 2226_289_97_I->V 0.000399361 383 chr1:182555653:T:C,G 2226_289_97_I->L 0.000399361 383 chr1:182555709:A:G 2226_233_78_L->P 0.000199681 383 chr1:182555758:G:A 2226_184_62_P->S 0.000199681 383 chr1:182555767:C:T 2226_175_59_G->S 0.00179712 383 chr1:182555810:C:G 2226_132_44_L->F 0.0 383 chr1:182555940:A:C 2226_2_1_M->R 0.000199681 383 na12878 Variants: 383 chr1:182551337:A:C 2226_1623_541_D->E 383 chr1:182554557:C:T 2226_1385_462_R->Q 383 snyder Variants: 383 chr1:182551337:A:C 2226_1623_541_D->E 383 chr1:182554557:C:T 2226_1385_462_R->Q 384 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000135828_ENST00000444138 gene_Name: RN5A_HUMAN 384 list of pdbs: 384 4G8L pdb_description: 31-Oct-12 X-ray 2.800 Active state of intact sensor domain of human rnase l with 2 384 4G8K pdb_description: 31-Oct-12 X-ray 2.400 Intact sensor domain of human rnase l in the inactive signal 384 1WDY pdb_description: 05-Oct-04 X-ray 1.800 Crystal structure of ribonuclease 384 Zimmer Variants: 384 chr1:182551337:A:C 2226_1623_541_D->E 384 HGMD Variants: 384 chr1:182555149:C:A 2226_793_265_E->* 384 chr1:182551337:A:C 2226_1623_541_D->E 384 chr1:182554557:C:T 2226_1385_462_R->Q 384 chr1:182554743:C:G 2226_1199_400_R->P 384 chr1:182555203:C:T 2226_739_247_V->M 384 chr1:182555407:C:T 2226_535_179_G->R 384 chr1:182555653:T:G 2226_289_97_I->L 384 chr1:182555767:C:T 2226_175_59_G->S 384 chr1:182555939:C:T 2226_3_1_M->I 384 oneKG Variants: 384 chr1:182555149:C:A 2226_793_265_E->* 0.00179712 384 chr1:182544565:C:T 2226_2188_730_A->T 0.000199681 384 chr1:182544573:C:T 2226_2180_727_C->Y 0.000199681 384 chr1:182544601:G:T 2226_2152_718_Q->K 0.000399361 384 chr1:182544618:T:C 2226_2135_712_Y->C 0.000199681 384 chr1:182544687:G:A 2226_2066_689_S->F 0.000798722 384 chr1:182545431:G:A 2226_1999_667_R->W 0.000199681 384 chr1:182545436:A:C 2226_1994_665_F->C 0.000199681 384 chr1:182545455:C:G 2226_1975_659_V->L 0.000199681 384 chr1:182550385:T:C 2226_1880_627_K->R 0.000199681 384 chr1:182550463:T:C 2226_1802_601_N->S 0.000199681 384 chr1:182550490:C:T 2226_1775_592_R->H 0.000199681 384 chr1:182551188:C:T 2226_1772_591_S->N 0.000199681 384 chr1:182551192:C:T 2226_1768_590_E->K 0.000199681 384 chr1:182551266:C:T 2226_1694_565_R->H 0.000599042 384 chr1:182551267:G:A 2226_1693_565_R->C 0.000199681 384 chr1:182551337:A:C 2226_1623_541_D->E 0.479832 384 chr1:182551366:C:T 2226_1594_532_V->I 0.000199681 384 chr1:182551383:C:T 2226_1577_526_R->Q 0.000199681 384 chr1:182553266:T:C 2226_1516_506_K->E 0.000199681 384 chr1:182553284:G:T 2226_1498_500_H->N 0.000199681 384 chr1:182553289:G:A 2226_1493_498_A->V 0.000399361 384 chr1:182553299:A:G 2226_1483_495_S->P 0.000199681 384 chr1:182554473:T:C 2226_1469_490_N->S 0.000599042 384 chr1:182554493:G:T 2226_1449_483_H->Q 0.000199681 384 chr1:182554557:C:T 2226_1385_462_R->Q 0.230631 384 chr1:182554585:C:T 2226_1357_453_V->M 0.000199681 384 chr1:182554708:G:C 2226_1234_412_R->G 0.000798722 384 chr1:182554711:T:C 2226_1231_411_S->G 0.000199681 384 chr1:182554717:G:T 2226_1225_409_Q->K 0.000199681 384 chr1:182554725:G:A 2226_1217_406_S->F 0.000399361 384 chr1:182554743:C:G 2226_1199_400_R->P 0.000599042 384 chr1:182554744:G:A 2226_1198_400_R->C 0.000199681 384 chr1:182554797:C:T 2226_1145_382_G->E 0.000199681 384 chr1:182554879:G:A 2226_1063_355_R->C 0.000199681 384 chr1:182554883:T:C 2226_1059_353_I->M 0.000199681 384 chr1:182555019:G:A 2226_923_308_A->V 0.000199681 384 chr1:182555062:T:C 2226_880_294_K->E 0.00159744 384 chr1:182555169:A:T 2226_773_258_L->H 0.000399361 384 chr1:182555391:A:G 2226_551_184_L->S 0.000599042 384 chr1:182555506:T:G 2226_436_146_K->Q 0.000199681 384 chr1:182555531:C:G 2226_411_137_K->N 0.000199681 384 chr1:182555577:T:C 2226_365_122_D->G 0.000199681 384 chr1:182555640:A:G 2226_302_101_I->T 0.000199681 384 chr1:182555650:G:A 2226_292_98_L->F 0.000199681 384 chr1:182555653:T:C,G 2226_289_97_I->V 0.000399361 384 chr1:182555653:T:C,G 2226_289_97_I->L 0.000399361 384 chr1:182555709:A:G 2226_233_78_L->P 0.000199681 384 chr1:182555758:G:A 2226_184_62_P->S 0.000199681 384 chr1:182555767:C:T 2226_175_59_G->S 0.00179712 384 chr1:182555810:C:G 2226_132_44_L->F 0.0 384 chr1:182555940:A:C 2226_2_1_M->R 0.000199681 384 na12878 Variants: 384 chr1:182551337:A:C 2226_1623_541_D->E 384 chr1:182554557:C:T 2226_1385_462_R->Q 384 snyder Variants: 384 chr1:182551337:A:C 2226_1623_541_D->E 384 chr1:182554557:C:T 2226_1385_462_R->Q 385 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000000971_ENST00000367429 gene_Name: CFAH_HUMAN 385 list of pdbs: 385 4J38 pdb_description: 15-May-13 X-ray 2.830 Structure of borrelia burgdorferi outer surface protein e in with factor h domains 19-20 385 4B2S pdb_description: 17-Oct-12 NMR 20 Solution structure of ccp modules 11-12 of complement factor 385 4B2R pdb_description: 10-Oct-12 NMR 20 Solution structure of ccp modules 10-11 of complement factor 385 4AYM pdb_description: 07-Nov-12 X-ray 3.000 Structure of a complex between ccps 6 and 7 of human complem factor h and neisseria meningitidis fhbp variant 3 p106a mu 385 4AYI pdb_description: 07-Nov-12 X-ray 2.310 Structure of a complex between ccps 6 and 7 of human complem factor h and neisseria meningitidis fhbp variant 3 wild typ 385 4AYE pdb_description: 07-Nov-12 X-ray 2.800 Structure of a complex between ccps 6 and 7 of human complem factor h and neisseria meningitidis fhbp variant 1 e283ae30 mutant 385 4AYD pdb_description: 07-Nov-12 X-ray 2.400 Structure of a complex between ccps 6 and 7 of human complement factor h and neisseria meningitidis fhbp variant 1 r106a mutant 385 3SW0 pdb_description: 14-Mar-12 X-ray 1.800 Structure of thE C-terminal region (modules 18-20) of comple regulator factor h 385 3RJ3 pdb_description: 14-Mar-12 X-ray 2.350 Complement components factor h ccp19-20 (s1191l mutant) and complex 385 3R62 pdb_description: 29-Jun-11 X-ray 1.520 Structure of complement regulator factor h mutant, t1184r. 385 3OXU pdb_description: 16-Feb-11 X-ray 2.100 Complement components factor h ccp19-20 and c3d in complex 385 3KZJ pdb_description: 19-May-10 X-ray 1.650 Structure of complement factor h variant r1203a 385 3KXV pdb_description: 19-May-10 X-ray 2.000 Structure of complement factor h variant q1139a 385 3GAW pdb_description: 09-Jun-09 - - Solution structure of human complement factor h in 250 mm na 385 3GAV pdb_description: 09-Jun-09 - - Solution structure of human complement factor h in 137 mm na 385 3GAU pdb_description: 09-Jun-09 - - Solution structure of human complement factor h in 50 mm nac 385 2XQW pdb_description: 02-Feb-11 X-ray 2.300 Structure of factor h domains 19-20 in complex with compleme 385 2WII pdb_description: 09-Jun-09 X-ray 2.700 Complement c3b in complex with factor h domains 1-4 385 2W81 pdb_description: 03-Mar-09 X-ray 2.350 Structure of a complex between neisseria meningitidis factor h binding protein and ccps 6-7 of human complement factor h 385 2W80 pdb_description: 03-Mar-09 X-ray 2.350 Structure of a complex between neisseria meningitidis factor h binding protein and ccps 6-7 of human complement factor h 385 2V8E pdb_description: 02-Oct-07 X-ray 2.500 Crystal structure of human complement factor h, scr domains 6-8 (h402 risk variant), in complex with ligand. 385 2UWN pdb_description: 02-Oct-07 X-ray 2.350 Crystal structure of human complement factor h, scr domains 6-8 (h402 risk variant), in complex with ligand. 385 2RLQ pdb_description: 19-Feb-08 NMR 29 Nmr structure of ccp modules 2-3 of complement factor h 385 2RLP pdb_description: 19-Feb-08 NMR 30 Nmr structure of ccp modules 1-2 of complement factor h 385 2QFH pdb_description: 25-Sep-07 - - Solution structure of thE C-terminal scr-16/20 fragment of complement factor h. 385 2QFG pdb_description: 25-Sep-07 - - Solution structure of the n-terminal scr-1/5 fragment of complement factor h. 385 2KMS pdb_description: 03-Nov-09 NMR 20 Combined high- and low-resolution techniques reveal compact structure in central portion of factor h despite long inter-modular linkers 385 2JGX pdb_description: 20-Mar-07 NMR 20 Structure of ccp module 7 of complement factor h - the amd not at risk varient (402y) 385 2JGW pdb_description: 20-Mar-07 NMR 20 Structure of ccp module 7 of complement factor h - the amd at risk varient (402h) 385 2IC4 pdb_description: 10-Apr-07 - - Solution structure of the his402 allotype of the factor h scr6-scr7-scr8 fragment 385 2G7I pdb_description: 23-May-06 X-ray 1.750 Structure of human complement factor h carboxyl terminal dom 20: a basis for atypical hemolytic uremic syndrome 385 2BZM pdb_description: 22-Mar-06 NMR 26 Solution structure of the primary host recognition region of complement factor h 385 1KOV pdb_description: 23-Jan-02 Theoret model Homology model of human factor h scrs 6 and 7 385 1HFI pdb_description: 15-Jul-93 NMR 1 Solution structure of a pair of complement modules by nuclear magnetic resonance 385 1HFH pdb_description: 15-Jul-93 NMR 1 Solution structure of a pair of complement modules by nuclear magnetic resonance 385 1HCC pdb_description: 15-Apr-92 NMR 1 Three-dimensional structure of a complement control protein module in solution 385 1HAQ pdb_description: 05-Apr-02 - - Four models of human factor h determined by solution scattering curve-fitting and homology modelling 385 1FHC pdb_description: 18-Mar-03 Theoret model C3d and heparin binding complement factor h domains scr19-20 385 Zimmer Variants: 385 chr1:196642233:G:A 3696_184_62_V->I 385 chr1:196659237:C:T 3696_1204_402_H->Y 385 HGMD Variants: 385 chr1:196646743:G:T 3696_565_189_E->* 385 chr1:196648827:C:T 3696_694_232_R->* 385 chr1:196658692:G:A 3696_1107_369_W->* 385 chr1:196659255:C:T 3696_1222_408_Q->* 385 chr1:196694261:C:A 3696_1707_569_C->* 385 chr1:196694304:A:T 3696_1750_584_K->* 385 chr1:196694427:G:T 3696_1873_625_E->* 385 chr1:196695975:C:G 3696_2141_714_S->* 385 chr1:196695999:C:A 3696_2165_722_S->* 385 chr1:196697523:G:T 3696_2284_762_E->* 385 chr1:196706705:T:A 3696_2697_899_Y->* 385 chr1:196706753:C:A 3696_2745_915_C->* 385 chr1:196706781:C:T 3696_2773_925_Q->* 385 chr1:196715051:C:T 3696_3415_1139_Q->* 385 chr1:196715081:C:T 3696_3445_1149_R->* 385 chr1:196716261:G:T 3696_3514_1172_E->* 385 chr1:196716296:G:A 3696_3549_1183_W->* 385 chr1:196716330:G:T 3696_3583_1195_E->* 385 chr1:196716339:G:T 3696_3592_1198_E->* 385 chr1:196716390:C:T 3696_3643_1215_R->* 385 chr1:196621254:C:G 3696_7_3_L->V 385 chr1:196642150:C:G 3696_101_34_T->R 385 chr1:196642191:G:T 3696_142_48_A->S 385 chr1:196642206:C:T 3696_157_53_R->C 385 chr1:196642207:G:A 3696_158_53_R->H 385 chr1:196642233:G:A 3696_184_62_V->I 385 chr1:196642281:A:G 3696_232_78_R->G 385 chr1:196642291:A:C 3696_242_81_Q->P 385 chr1:196642991:G:T 3696_249_83_R->S 385 chr1:196643011:A:G 3696_269_90_D->G 385 chr1:196643074:T:A 3696_332_111_V->E 385 chr1:196645148:G:A 3696_380_127_R->H 385 chr1:196645148:G:T 3696_380_127_R->L 385 chr1:196645156:G:A 3696_388_130_D->N 385 chr1:196645168:T:C 3696_400_134_W->R 385 chr1:196645183:C:T 3696_415_139_P->S 385 chr1:196645195:G:A 3696_427_143_V->I 385 chr1:196646659:G:T 3696_481_161_A->S 385 chr1:196646662:A:G 3696_484_162_M->V 385 chr1:196646675:G:T 3696_497_166_R->L 385 chr1:196646696:C:G 3696_518_173_A->G 385 chr1:196646702:G:A 3696_524_175_R->Q 385 chr1:196646756:C:T 3696_578_193_S->L 385 chr1:196646773:A:G 3696_595_199_S->G 385 chr1:196648780:T:C 3696_647_216_I->T 385 chr1:196648786:G:A 3696_653_218_G->E 385 chr1:196648906:C:T 3696_773_258_P->L 385 chr1:196654311:G:A 3696_908_303_R->Q 385 chr1:196658559:G:A 3696_974_325_C->Y 385 chr1:196658607:G:A 3696_1022_341_R->H 385 chr1:196658649:A:C 3696_1064_355_Y->S 385 chr1:196658720:T:C 3696_1135_379_W->R 385 chr1:196659231:C:A 3696_1198_400_Q->K 385 chr1:196659237:C:T 3696_1204_402_H->Y 385 chr1:196659264:T:A 3696_1231_411_S->T 385 chr1:196659324:T:A 3696_1291_431_C->S 385 chr1:196659325:G:A 3696_1292_431_C->Y 385 chr1:196682952:A:C 3696_1424_475_Y->S 385 chr1:196683035:C:G 3696_1507_503_P->A 385 chr1:196684751:T:A 3696_1548_516_N->K 385 chr1:196684809:T:C 3696_1606_536_C->R 385 chr1:196694253:A:G 3696_1699_567_R->G 385 chr1:196694299:G:A 3696_1745_582_R->H 385 chr1:196694343:T:C 3696_1789_597_C->R 385 chr1:196694379:G:A 3696_1825_609_V->I 385 chr1:196694386:G:A 3696_1832_611_C->Y 385 chr1:196694415:C:A 3696_1861_621_P->T 385 chr1:196694422:G:C 3696_1868_623_C->S 385 chr1:196695616:T:G 3696_1890_630_C->W 385 chr1:196695631:A:T 3696_1905_635_E->D 385 chr1:196695675:G:T 3696_1949_650_G->V 385 chr1:196695743:T:C 3696_2017_673_C->R 385 chr1:196695744:G:C 3696_2018_673_C->S 385 chr1:196695744:G:A 3696_2018_673_C->Y 385 chr1:196696029:C:T 3696_2195_732_T->M 385 chr1:196696032:G:A 3696_2198_733_C->Y 385 chr1:196706043:G:C 3696_2503_835_V->L 385 chr1:196706049:G:A 3696_2509_837_V->I 385 chr1:196706080:A:T 3696_2540_847_E->V 385 chr1:196706088:G:A 3696_2548_850_E->K 385 chr1:196706097:T:C 3696_2557_853_C->R 385 chr1:196706616:T:C 3696_2608_870_C->R 385 chr1:196706649:A:C 3696_2641_881_I->L 385 chr1:196706677:G:T 3696_2669_890_S->I 385 chr1:196706686:A:G 3696_2678_893_H->R 385 chr1:196706703:T:G 3696_2695_899_Y->D 385 chr1:196706751:T:A 3696_2743_915_C->S 385 chr1:196706766:T:C 3696_2758_920_W->R 385 chr1:196706785:G:T 3696_2777_926_C->F 385 chr1:196709774:G:T 3696_2808_936_E->D 385 chr1:196709816:G:T 3696_2850_950_Q->H 385 chr1:196709816:G:C 3696_2850_950_Q->H 385 chr1:196709817:T:C 3696_2851_951_Y->H 385 chr1:196709833:C:T 3696_2867_956_T->M 385 chr1:196709842:G:A 3696_2876_959_C->Y 385 chr1:196709842:G:C 3696_2876_959_C->S 385 chr1:196709874:A:G 3696_2908_970_I->V 385 chr1:196709884:G:A 3696_2918_973_C->Y 385 chr1:196709900:G:T 3696_2934_978_W->C 385 chr1:196711007:A:G 3696_2959_987_T->A 385 chr1:196711067:G:T 3696_3019_1007_V->L 385 chr1:196711110:A:T 3696_3062_1021_Y->F 385 chr1:196711175:T:C 3696_3127_1043_C->R 385 chr1:196712596:A:T 3696_3148_1050_N->Y 385 chr1:196712620:T:C 3696_3172_1058_Y->H 385 chr1:196712624:T:C 3696_3176_1059_I->T 385 chr1:196712626:G:C 3696_3178_1060_V->L 385 chr1:196712627:T:C 3696_3179_1060_V->A 385 chr1:196712629:T:C 3696_3181_1061_S->P 385 chr1:196712674:C:G 3696_3226_1076_Q->E 385 chr1:196712679:T:G 3696_3231_1077_C->W 385 chr1:196712682:G:T 3696_3234_1078_R->S 385 chr1:196714986:A:G 3696_3350_1117_N->S 385 chr1:196714991:G:A 3696_3355_1119_D->N 385 chr1:196714992:A:G 3696_3356_1119_D->G 385 chr1:196715025:C:T 3696_3389_1130_P->L 385 chr1:196715037:T:G 3696_3401_1134_V->G 385 chr1:196715041:G:C 3696_3405_1135_E->D 385 chr1:196715046:A:T 3696_3410_1137_Q->L 385 chr1:196715060:T:G 3696_3424_1142_Y->D 385 chr1:196715061:A:G 3696_3425_1142_Y->C 385 chr1:196715071:G:C 3696_3435_1145_E->D 385 chr1:196715090:T:A 3696_3454_1152_C->S 385 chr1:196715105:T:C 3696_3469_1157_W->R 385 chr1:196715118:C:A 3696_3482_1161_P->Q 385 chr1:196715125:C:G 3696_3489_1163_C->W 385 chr1:196716244:C:T 3696_3497_1166_P->L 385 chr1:196716250:T:A 3696_3503_1168_V->E 385 chr1:196716252:A:C 3696_3505_1169_I->L 385 chr1:196716277:A:G 3696_3530_1177_Y->C 385 chr1:196716293:G:C 3696_3546_1182_R->S 385 chr1:196716293:G:T 3696_3546_1182_R->S 385 chr1:196716294:T:C 3696_3547_1183_W->R 385 chr1:196716294:T:A 3696_3547_1183_W->R 385 chr1:196716295:G:T 3696_3548_1183_W->L 385 chr1:196716296:G:T 3696_3549_1183_W->C 385 chr1:196716297:A:G 3696_3550_1184_T->A 385 chr1:196716298:C:G 3696_3551_1184_T->R 385 chr1:196716304:A:C 3696_3557_1186_K->T 385 chr1:196716312:C:T 3696_3565_1189_L->F 385 chr1:196716313:T:G 3696_3566_1189_L->R 385 chr1:196716313:T:A 3696_3566_1189_L->H 385 chr1:196716319:C:G 3696_3572_1191_S->W 385 chr1:196716319:C:T 3696_3572_1191_S->L 385 chr1:196716328:G:A 3696_3581_1194_G->D 385 chr1:196716337:T:C 3696_3590_1197_V->A 385 chr1:196716339:G:A 3696_3592_1198_E->K 385 chr1:196716340:A:C 3696_3593_1198_E->A 385 chr1:196716343:T:C 3696_3596_1199_F->S 385 chr1:196716345:G:T 3696_3598_1200_V->L 385 chr1:196716354:C:T 3696_3607_1203_R->W 385 chr1:196716358:G:A 3696_3611_1204_G->E 385 chr1:196716363:C:T 3696_3616_1206_R->C 385 chr1:196716375:C:T 3696_3628_1210_R->C 385 chr1:196716390:C:G 3696_3643_1215_R->G 385 chr1:196716391:G:A 3696_3644_1215_R->Q 385 chr1:196716399:T:C 3696_3652_1218_C->R 385 chr1:196716423:C:T 3696_3676_1226_P->S 385 oneKG Variants: 385 chr1:196716261:G:T 3696_3514_1172_E->* 0.000199681 385 chr1:196621254:C:T 3696_7_3_L->F 0.000199681 385 chr1:196642174:A:T 3696_125_42_Y->F 0.000199681 385 chr1:196642221:T:G 3696_172_58_S->A 0.000199681 385 chr1:196642233:G:A 3696_184_62_V->I 0.468051 385 chr1:196643074:T:A 3696_332_111_V->E 0.000399361 385 chr1:196646650:G:A 3696_472_158_V->I 0.000399361 385 chr1:196646698:G:A 3696_520_174_V->I 0.000199681 385 chr1:196646707:G:A 3696_529_177_V->I 0.000199681 385 chr1:196646708:T:C 3696_530_177_V->A 0.000199681 385 chr1:196648773:G:A 3696_640_214_D->N 0.000199681 385 chr1:196648780:T:C 3696_647_216_I->T 0.000599042 385 chr1:196648903:G:A 3696_770_257_R->H 0.000399361 385 chr1:196658595:A:G 3696_1010_337_H->R 0.000199681 385 chr1:196658724:C:T 3696_1139_380_S->L 0.000199681 385 chr1:196659213:T:A 3696_1180_394_L->M 0.000199681 385 chr1:196659237:C:T 3696_1204_402_H->Y 0.266573 385 chr1:196659285:C:T 3696_1252_418_P->S 0.000199681 385 chr1:196659291:T:C 3696_1258_420_Y->H 0.000199681 385 chr1:196659342:T:G 3696_1309_437_S->A 0.158147 385 chr1:196659343:C:A 3696_1310_437_S->Y 0.000199681 385 chr1:196682946:C:T 3696_1418_473_A->V 0.000199681 385 chr1:196682982:A:G 3696_1454_485_D->G 0.000199681 385 chr1:196683035:C:T 3696_1507_503_P->S 0.000199681 385 chr1:196684751:T:A 3696_1548_516_N->K 0.000199681 385 chr1:196684855:T:C 3696_1652_551_I->T 0.0191693 385 chr1:196694289:G:A 3696_1735_579_V->I 0.000199681 385 chr1:196694290:T:C 3696_1736_579_V->A 0.000399361 385 chr1:196695669:A:G 3696_1943_648_E->G 0.000199681 385 chr1:196695675:G:T 3696_1949_650_G->V 0.000399361 385 chr1:196695773:G:A 3696_2047_683_V->M 0.000199681 385 chr1:196695911:G:A 3696_2077_693_D->N 0.000798722 385 chr1:196695923:C:T 3696_2089_697_L->F 0.000399361 385 chr1:196695948:C:T 3696_2114_705_S->F 0.000199681 385 chr1:196696005:C:A 3696_2171_724_T->K 0.000199681 385 chr1:196697534:A:T 3696_2295_765_L->F 0.000199681 385 chr1:196697652:A:G 3696_2413_805_M->V 0.000199681 385 chr1:196706009:G:A 3696_2469_823_M->I 0.000199681 385 chr1:196706046:T:A 3696_2506_836_S->T 0.000199681 385 chr1:196706049:G:A 3696_2509_837_V->I 0.00339457 385 chr1:196706611:T:A 3696_2603_868_I->N 0.000199681 385 chr1:196706647:C:T 3696_2639_880_T->I 0.000199681 385 chr1:196706659:C:A 3696_2651_884_S->Y 0.000798722 385 chr1:196706677:G:T 3696_2669_890_S->I 0.0623003 385 chr1:196706713:A:C 3696_2705_902_E->A 0.000199681 385 chr1:196709774:G:T 3696_2808_936_E->D 0.203275 385 chr1:196709787:G:T 3696_2821_941_V->F 0.000599042 385 chr1:196709816:G:T 3696_2850_950_Q->H 0.00159744 385 chr1:196709833:C:T 3696_2867_956_T->M 0.00119808 385 chr1:196709845:T:C 3696_2879_960_F->S 0.000199681 385 chr1:196711067:G:T 3696_3019_1007_V->L 0.0870607 385 chr1:196711098:C:T 3696_3050_1017_T->I 0.00299521 385 chr1:196711166:A:G 3696_3118_1040_R->G 0.000399361 385 chr1:196712596:A:T 3696_3148_1050_N->Y 0.0141773 385 chr1:196712616:T:G 3696_3168_1056_N->K 0.000199681 385 chr1:196712620:T:C 3696_3172_1058_Y->H 0.00139776 385 chr1:196712624:T:C 3696_3176_1059_I->T 0.0245607 385 chr1:196712740:G:A 3696_3292_1098_E->K 0.000399361 385 chr1:196714965:G:C 3696_3329_1110_G->A 0.000199681 385 chr1:196714992:A:G 3696_3356_1119_D->G 0.000199681 385 chr1:196715063:C:G 3696_3427_1143_Q->E 0.0329473 385 chr1:196716282:A:T 3696_3535_1179_I->L 0.000199681 385 chr1:196716354:C:T 3696_3607_1203_R->W 0.000199681 385 chr1:196716372:T:A 3696_3625_1209_S->T 0.000199681 385 na12878 Variants: 385 chr1:196642233:G:A 3696_184_62_V->I 385 chr1:196659237:C:T 3696_1204_402_H->Y 385 snyder Variants: 385 chr1:196642233:G:A 3696_184_62_V->I 385 chr1:196659237:C:T 3696_1204_402_H->Y 386 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162896_ENST00000356495 gene_Name: PIGR_HUMAN 386 list of pdbs: 386 2OCW pdb_description: 10-Apr-07 - - Solution structure of human secretory component 386 1XED pdb_description: 23-Nov-04 X-ray 1.900 Crystal structure of a ligand-binding domain of the human polymeric ig receptor, pigr 386 3CM9 pdb_description: 30-Dec-08 - - Solution structure of human siga2 386 3CHN pdb_description: 30-Dec-08 - - Solution structure of human secretory iga1 386 Zimmer Variants: 386 chr1:207109116:C:T 2295_1093_365_G->S;GENE=PIGR;CDSS=2 386 chr1:207106478:G:A 2295_1739_580_A->V;GENE=PIGR;CDSS=1 386 HGMD Variants: 386 chr1:207106478:G:A 2295_1739_580_A->V 386 oneKG Variants: 386 chr1:207103680:C:T 2295_2278_760_G->S 0.000199681 386 chr1:207105078:C:T 2295_2078_693_G->E 0.000199681 386 chr1:207105843:C:G,T 2295_1966_656_V->L,2 0.000599042 386 chr1:207105843:C:G,T 2295_1966_656_V->M 0.000599042 386 chr1:207105908:C:T 2295_1901_634_G->D 0.000199681 386 chr1:207106388:G:A 2295_1829_610_A->V 0.000798722 386 chr1:207106442:C:T 2295_1775_592_R->Q 0.000199681 386 chr1:207106478:G:A 2295_1739_580_A->V 0.266773 386 chr1:207106479:C:T 2295_1738_580_A->T 0.000399361 386 chr1:207106503:C:T 2295_1714_572_D->N 0.000199681 386 chr1:207107798:C:T 2295_1672_558_V->I 0.000998403 386 chr1:207107806:G:A 2295_1664_555_T->I 0.0728834 386 chr1:207107996:C:T 2295_1474_492_E->K 0.000199681 386 chr1:207108004:G:A 2295_1466_489_S->F 0.000199681 386 chr1:207108056:C:T 2295_1414_472_A->T 0.000599042 386 chr1:207108091:C:T 2295_1379_460_G->E 0.000199681 386 chr1:207108873:C:T 2295_1336_446_D->N 0.000199681 386 chr1:207108876:C:T 2295_1333_445_G->S 0.000199681 386 chr1:207108908:C:T 2295_1301_434_R->Q 0.000199681 386 chr1:207109029:G:A 2295_1180_394_R->C 0.000399361 386 chr1:207109041:C:A 2295_1168_390_A->S 0.000199681 386 chr1:207109071:T:C 2295_1138_380_S->G 0.000199681 386 chr1:207109104:C:T 2295_1105_369_V->M 0.00399361 386 chr1:207109116:C:T 2295_1093_365_G->S 0.296326 386 chr1:207109128:C:G 2295_1081_361_G->R 0.000199681 386 chr1:207109157:G:A 2295_1052_351_T->M 0.000199681 386 chr1:207110449:C:T 2295_1036_346_V->I 0.00279553 386 chr1:207110496:T:C 2295_989_330_D->G 0.000199681 386 chr1:207110499:G:A 2295_986_329_S->L 0.000199681 386 chr1:207110638:C:T 2295_847_283_V->I 0.000998403 386 chr1:207110690:G:C 2295_795_265_N->K 0.000199681 386 chr1:207110923:T:A 2295_562_188_T->S 0.000199681 386 chr1:207110938:C:G 2295_547_183_V->L 0.000199681 386 chr1:207110988:T:C 2295_497_166_Y->C 0.000199681 386 chr1:207112532:C:T 2295_320_107_R->H 0.000199681 386 chr1:207112626:T:C 2295_226_76_S->G 0.000199681 386 chr1:207112712:A:G 2295_140_47_V->A 0.000199681 386 chr1:207112776:C:T 2295_76_26_E->K 0.000399361 386 chr1:207112799:G:A 2295_53_18_T->M 0.000199681 386 na12878 Variants: 386 chr1:207109116:C:T 2295_1093_365_G->S 386 snyder Variants: 386 chr1:207109116:C:T 2295_1093_365_G->S 387 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000117322_ENST00000367058 gene_Name: CR2_HUMAN 387 list of pdbs: 387 2GSX pdb_description: 26-Sep-06 - - Complement receptor type 2 387 1W2R pdb_description: 29-Sep-05 - - Solution structure of cr2 scr 1-2 by x-ray scattering 387 1LY2 pdb_description: 05-Jul-02 X-ray 1.800 Crystal structure of unliganded human cd21 scr1-scr2 (comple receptor type 2) 387 3OED pdb_description: 11-May-11 X-ray 3.160 The structure of the complex between complement receptor cr2 ligand complement fragment c3d 387 1W2S pdb_description: 29-Sep-05 - - Solution structure of cr2 scr 1-2 in its complex with c3d by x-ray scattering 387 1GHQ pdb_description: 13-Jun-01 X-ray 2.040 Cr2-c3d complex structure 387 Zimmer Variants: 387 chr1:207653395:C:A 3102_3008_1003_A->E 387 HGMD Variants: 387 chr1:207647643:G:A 3102_2121_707_W->* 387 chr1:207641950:C:T 3102_524_175_P->L 387 oneKG Variants: 387 chr1:207647643:G:A 3102_2121_707_W->* 0.000399361 387 chr1:207658858:C:T 3102_3061_1021_R->* 0.000599042 387 chr1:207639909:C:T 3102_97_33_R->W 0.000199681 387 chr1:207640012:C:G 3102_200_67_T->S 0.00259585 387 chr1:207640188:G:A 3102_376_126_G->R 0.000199681 387 chr1:207640201:T:C 3102_389_130_V->A 0.000399361 387 chr1:207640231:C:T 3102_419_140_P->L 0.000199681 387 chr1:207641911:A:G 3102_485_162_N->S 0.000399361 387 chr1:207641950:C:T 3102_524_175_P->L 0.00319489 387 chr1:207641953:G:T 3102_527_176_G->V 0.000199681 387 chr1:207642025:C:T 3102_599_200_S->L 0.000199681 387 chr1:207642150:C:T 3102_640_214_R->C 0.000199681 387 chr1:207642151:G:A 3102_641_214_R->H 0.000798722 387 chr1:207642157:A:G 3102_647_216_K->R 0.000199681 387 chr1:207642500:G:A 3102_740_247_R->Q 0.000199681 387 chr1:207643052:C:T 3102_830_277_P->L 0.000199681 387 chr1:207643120:A:G 3102_898_300_I->V 0.000199681 387 chr1:207643129:T:C 3102_907_303_Y->H 0.000199681 387 chr1:207643192:C:T 3102_970_324_R->C 0.00159744 387 chr1:207643243:C:A 3102_1021_341_R->S 0.000199681 387 chr1:207643295:G:A 3102_1073_358_R->K 0.000199681 387 chr1:207643301:G:A 3102_1079_360_R->Q 0.000998403 387 chr1:207643334:A:G 3102_1112_371_Y->C 0.000399361 387 chr1:207643362:G:A 3102_1140_380_M->I 0.00199681 387 chr1:207644133:A:T 3102_1274_425_H->L 0.00239617 387 chr1:207644142:G:A 3102_1283_428_R->H 0.000798722 387 chr1:207644241:C:A 3102_1382_461_P->H 0.000199681 387 chr1:207644348:C:T 3102_1409_470_A->V 0.000199681 387 chr1:207644414:A:G 3102_1475_492_N->S 0.000798722 387 chr1:207646168:G:T 3102_1622_541_S->I 0.00539137 387 chr1:207646222:G:A 3102_1676_559_G->E 0.000599042 387 chr1:207646231:G:A 3102_1685_562_R->K 0.000199681 387 chr1:207646234:G:A 3102_1688_563_G->E 0.000199681 387 chr1:207646461:A:C 3102_1915_639_S->R 0.000199681 387 chr1:207646462:G:A 3102_1916_639_S->N 0.258387 387 chr1:207646477:G:A 3102_1931_644_C->Y 0.000199681 387 chr1:207646512:G:A 3102_1966_656_V->I 0.000199681 387 chr1:207647208:G:A 3102_2041_681_V->I 0.000599042 387 chr1:207648456:G:T 3102_2434_812_V->L 0.00199681 387 chr1:207648473:T:G 3102_2451_817_N->K 0.00159744 387 chr1:207648488:G:C 3102_2466_822_M->I 0.000599042 387 chr1:207648498:C:T 3102_2476_826_R->C 0.000199681 387 chr1:207648555:A:G 3102_2533_845_K->E 0.000199681 387 chr1:207648556:A:G 3102_2534_845_K->R 0.000199681 387 chr1:207649605:A:G 3102_2566_856_K->E 0.000199681 387 chr1:207649609:C:T 3102_2570_857_T->I 0.000998403 387 chr1:207649698:G:A 3102_2659_887_V->M 0.00179712 387 chr1:207649744:A:T 3102_2705_902_Q->L 0.000399361 387 chr1:207651294:G:A 3102_2790_930_M->I 0.000599042 387 chr1:207651359:A:G 3102_2855_952_Q->R 0.000199681 387 chr1:207651360:G:C 3102_2856_952_Q->H 0.000399361 387 chr1:207651374:C:T 3102_2870_957_S->L 0.000998403 387 chr1:207653332:C:T 3102_2945_982_A->V 0.000399361 387 chr1:207653364:A:G 3102_2977_993_I->V 0.0491214 387 chr1:207653386:A:G 3102_2999_1000_K->R 0.000199681 387 chr1:207653395:C:A 3102_3008_1003_A->E 0.057109 387 chr1:207653397:C:T 3102_3010_1004_R->C 0.000399361 387 na12878 Variants: 387 chr1:207653364:A:G 3102_2977_993_I->V 387 chr1:207653395:C:A 3102_3008_1003_A->E 387 snyder Variants: 387 chr1:207653395:C:A 3102_3008_1003_A->E 388 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000117322_ENST00000367057 gene_Name: CR2_HUMAN 388 list of pdbs: 388 2GSX pdb_description: 26-Sep-06 - - Complement receptor type 2 388 1W2R pdb_description: 29-Sep-05 - - Solution structure of cr2 scr 1-2 by x-ray scattering 388 1LY2 pdb_description: 05-Jul-02 X-ray 1.800 Crystal structure of unliganded human cd21 scr1-scr2 (comple receptor type 2) 388 3OED pdb_description: 11-May-11 X-ray 3.160 The structure of the complex between complement receptor cr2 ligand complement fragment c3d 388 1W2S pdb_description: 29-Sep-05 - - Solution structure of cr2 scr 1-2 in its complex with c3d by x-ray scattering 388 1GHQ pdb_description: 13-Jun-01 X-ray 2.040 Cr2-c3d complex structure 388 Zimmer Variants: 388 chr1:207653395:C:A 3279_3185_1062_A->E 388 HGMD Variants: 388 chr1:207647643:G:A 3279_2298_766_W->* 388 chr1:207641950:C:T 3279_524_175_P->L 388 oneKG Variants: 388 chr1:207647643:G:A 3279_2298_766_W->* 0.000399361 388 chr1:207658858:C:T 3279_3238_1080_R->* 0.000599042 388 chr1:207639909:C:T 3279_97_33_R->W 0.000199681 388 chr1:207640012:C:G 3279_200_67_T->S 0.00259585 388 chr1:207640188:G:A 3279_376_126_G->R 0.000199681 388 chr1:207640201:T:C 3279_389_130_V->A 0.000399361 388 chr1:207640231:C:T 3279_419_140_P->L 0.000199681 388 chr1:207641911:A:G 3279_485_162_N->S 0.000399361 388 chr1:207641950:C:T 3279_524_175_P->L 0.00319489 388 chr1:207641953:G:T 3279_527_176_G->V 0.000199681 388 chr1:207642025:C:T 3279_599_200_S->L 0.000199681 388 chr1:207642150:C:T 3279_640_214_R->C 0.000199681 388 chr1:207642151:G:A 3279_641_214_R->H 0.000798722 388 chr1:207642157:A:G 3279_647_216_K->R 0.000199681 388 chr1:207642500:G:A 3279_740_247_R->Q 0.000199681 388 chr1:207643052:C:T 3279_830_277_P->L 0.000199681 388 chr1:207643120:A:G 3279_898_300_I->V 0.000199681 388 chr1:207643129:T:C 3279_907_303_Y->H 0.000199681 388 chr1:207643192:C:T 3279_970_324_R->C 0.00159744 388 chr1:207643243:C:A 3279_1021_341_R->S 0.000199681 388 chr1:207643295:G:A 3279_1073_358_R->K 0.000199681 388 chr1:207643301:G:A 3279_1079_360_R->Q 0.000998403 388 chr1:207643334:A:G 3279_1112_371_Y->C 0.000399361 388 chr1:207643362:G:A 3279_1140_380_M->I 0.00199681 388 chr1:207644133:A:T 3279_1274_425_H->L 0.00239617 388 chr1:207644142:G:A 3279_1283_428_R->H 0.000798722 388 chr1:207644241:C:A 3279_1382_461_P->H 0.000199681 388 chr1:207644348:C:T 3279_1409_470_A->V 0.000199681 388 chr1:207644414:A:G 3279_1475_492_N->S 0.000798722 388 chr1:207646168:G:T 3279_1622_541_S->I 0.00539137 388 chr1:207646222:G:A 3279_1676_559_G->E 0.000599042 388 chr1:207646231:G:A 3279_1685_562_R->K 0.000199681 388 chr1:207646234:G:A 3279_1688_563_G->E 0.000199681 388 chr1:207646461:A:C 3279_1915_639_S->R 0.000199681 388 chr1:207646462:G:A 3279_1916_639_S->N 0.258387 388 chr1:207646477:G:A 3279_1931_644_C->Y 0.000199681 388 chr1:207646512:G:A 3279_1966_656_V->I 0.000199681 388 chr1:207646896:A:G 3279_1985_662_Q->R 0.000199681 388 chr1:207646898:T:C 3279_1987_663_S->P 0.289537 388 chr1:207646923:G:A 3279_2012_671_R->H 0.257588 388 chr1:207646941:C:T 3279_2030_677_T->M 0.000399361 388 chr1:207646947:T:G 3279_2036_679_F->C 0.000199681 388 chr1:207647051:G:T 3279_2140_714_A->S 0.000199681 388 chr1:207647057:C:T 3279_2146_716_R->W 0.000399361 388 chr1:207647208:G:A 3279_2218_740_V->I 0.000599042 388 chr1:207648456:G:T 3279_2611_871_V->L 0.00199681 388 chr1:207648473:T:G 3279_2628_876_N->K 0.00159744 388 chr1:207648488:G:C 3279_2643_881_M->I 0.000599042 388 chr1:207648498:C:T 3279_2653_885_R->C 0.000199681 388 chr1:207648555:A:G 3279_2710_904_K->E 0.000199681 388 chr1:207648556:A:G 3279_2711_904_K->R 0.000199681 388 chr1:207649605:A:G 3279_2743_915_K->E 0.000199681 388 chr1:207649609:C:T 3279_2747_916_T->I 0.000998403 388 chr1:207649698:G:A 3279_2836_946_V->M 0.00179712 388 chr1:207649744:A:T 3279_2882_961_Q->L 0.000399361 388 chr1:207651294:G:A 3279_2967_989_M->I 0.000599042 388 chr1:207651359:A:G 3279_3032_1011_Q->R 0.000199681 388 chr1:207651360:G:C 3279_3033_1011_Q->H 0.000399361 388 chr1:207651374:C:T 3279_3047_1016_S->L 0.000998403 388 chr1:207653332:C:T 3279_3122_1041_A->V 0.000399361 388 chr1:207653364:A:G 3279_3154_1052_I->V 0.0491214 388 chr1:207653386:A:G 3279_3176_1059_K->R 0.000199681 388 chr1:207653395:C:A 3279_3185_1062_A->E 0.057109 388 chr1:207653397:C:T 3279_3187_1063_R->C 0.000399361 388 na12878 Variants: 388 chr1:207653364:A:G 3279_3154_1052_I->V 388 chr1:207653395:C:A 3279_3185_1062_A->E 388 snyder Variants: 388 chr1:207653395:C:A 3279_3185_1062_A->E 389 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143353_ENST00000366928 gene_Name: LYPL1_HUMAN 389 list of pdbs: 389 3U0V pdb_description: 16-Nov-11 X-ray 1.720 Crystal structure analysis of human lyplal1 389 Zimmer Variants: 389 chr1:219383905:A:G 714_393_131_I->M;GENE=LYPLAL1;CDSS=2 389 HGMD Variants: 389 chr1:219383943:T:G 714_431_144_V->G 389 oneKG Variants: 389 chr1:219366463:G:A 714_231_77_W->* 0.000199681 389 chr1:219385024:T:G 714_668_223_L->* 0.000199681 389 chr1:219347249:G:C 714_17_6_G->A 0.000199681 389 chr1:219347252:C:G 714_20_7_S->W 0.000199681 389 chr1:219347282:C:T 714_50_17_A->V 0.00259585 389 chr1:219347295:C:G 714_63_21_S->R 0.000199681 389 chr1:219352559:A:G 714_162_54_I->M 0.000199681 389 chr1:219366441:A:G 714_209_70_K->R 0.000199681 389 chr1:219366546:T:C 714_314_105_I->T 0.000199681 389 chr1:219383905:A:G 714_393_131_I->M 0.036741 389 chr1:219383919:G:T 714_407_136_R->I 0.000199681 389 chr1:219383933:G:A 714_421_141_V->M 0.000199681 389 chr1:219383940:G:A 714_428_143_G->E 0.000199681 389 chr1:219383972:G:A 714_460_154_A->T 0.000399361 389 chr1:219384879:C:T 714_523_175_H->Y 0.000199681 389 chr1:219384886:C:G 714_530_177_T->S 0.000199681 389 chr1:219384945:C:G 714_589_197_L->V 0.0183706 389 chr1:219385003:C:G 714_647_216_T->S 0.00119808 389 chr1:219385045:C:T 714_689_230_P->L 0.000399361 389 na12878 Variants: 389 chr1:219383905:A:G 714_393_131_I->M 389 snyder Variants: 389 chr1:219383905:A:G 714_393_131_I->M 390 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000143353_ENST00000366927 gene_Name: LYPL1_HUMAN 390 list of pdbs: 390 3U0V pdb_description: 16-Nov-11 X-ray 1.720 Crystal structure analysis of human lyplal1 390 Zimmer Variants: 390 chr1:219383905:A:G 666_345_115_I->M 390 HGMD Variants: 390 chr1:219383943:T:G 666_383_128_V->G 390 oneKG Variants: 390 chr1:219385024:T:G 666_620_207_L->* 0.000199681 390 chr1:219347249:G:C 666_17_6_G->A 0.000199681 390 chr1:219347252:C:G 666_20_7_S->W 0.000199681 390 chr1:219347282:C:T 666_50_17_A->V 0.00259585 390 chr1:219347295:C:G 666_63_21_S->R 0.000199681 390 chr1:219352559:A:G 666_162_54_I->M 0.000199681 390 chr1:219366546:T:C 666_266_89_I->T 0.000199681 390 chr1:219383905:A:G 666_345_115_I->M 0.036741 390 chr1:219383919:G:T 666_359_120_R->I 0.000199681 390 chr1:219383933:G:A 666_373_125_V->M 0.000199681 390 chr1:219383940:G:A 666_380_127_G->E 0.000199681 390 chr1:219383972:G:A 666_412_138_A->T 0.000399361 390 chr1:219384879:C:T 666_475_159_H->Y 0.000199681 390 chr1:219384886:C:G 666_482_161_T->S 0.000199681 390 chr1:219384945:C:G 666_541_181_L->V 0.0183706 390 chr1:219385003:C:G 666_599_200_T->S 0.00119808 390 chr1:219385045:C:T 666_641_214_P->L 0.000399361 390 na12878 Variants: 390 chr1:219383905:A:G 666_345_115_I->M 390 snyder Variants: 390 chr1:219383905:A:G 666_345_115_I->M 391 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000187554_ENST00000540964 gene_Name: TLR5_HUMAN 391 list of pdbs: 391 3J0A pdb_description: 28-Dec-11 - - Homology model of human toll-like receptor 5 fitted into an microscopy single particle reconstruction 391 1P95 pdb_description: 29-Jul-03 Theoret model A structural study of the binding of flagellin by toll-like receptor 5 391 Zimmer Variants: 391 chr1:223283910:A:G 2577_2464_822_F->L;GENE=TLR5;CDSS=2 391 chr1:223284528:A:G 2577_1846_616_F->L;GENE=TLR5;CDSS=1 391 HGMD Variants: 391 chr1:223285200:G:A 2577_1174_392_R->* 391 chr1:223283825:G:A 2577_2549_850_P->L 391 chr1:223283837:T:C 2577_2537_846_D->G 391 chr1:223283910:A:G 2577_2464_822_F->L 391 chr1:223284293:T:C 2577_2081_694_D->G 391 chr1:223284444:T:A 2577_1930_644_I->F 391 chr1:223284528:A:G 2577_1846_616_F->L 391 chr1:223284599:T:C 2577_1775_592_N->S 391 oneKG Variants: 391 chr1:223285200:G:A 2577_1174_392_R->* 0.0503195 391 chr1:223285215:G:A 2577_1159_387_Q->* 0.000798722 391 chr1:223285458:G:A 2577_916_306_R->* 0.000599042 391 chr1:223286289:G:A 2577_85_29_R->* 0.000199681 391 chr1:223283807:G:A 2577_2567_856_T->I 0.000798722 391 chr1:223283837:T:C 2577_2537_846_D->G 0.00399361 391 chr1:223283910:A:G 2577_2464_822_F->L 0.0 391 chr1:223284047:T:C 2577_2327_776_Q->R 0.000199681 391 chr1:223284056:C:T 2577_2318_773_S->N 0.000399361 391 chr1:223284069:G:A 2577_2305_769_L->F 0.00179712 391 chr1:223284091:G:T 2577_2283_761_H->Q 0.00219649 391 chr1:223284120:T:C 2577_2254_752_R->G 0.00279553 391 chr1:223284214:A:T 2577_2160_720_S->R 0.000599042 391 chr1:223284228:C:T 2577_2146_716_D->N 0.000199681 391 chr1:223284250:C:G 2577_2124_708_Q->H 0.00199681 391 chr1:223284293:T:C 2577_2081_694_D->G 0.000599042 391 chr1:223284414:G:A 2577_1960_654_L->F 0.000199681 391 chr1:223284444:T:A 2577_1930_644_I->F 0.00399361 391 chr1:223284504:G:C 2577_1870_624_L->V 0.000199681 391 chr1:223284528:A:G 2577_1846_616_F->L 0.290335 391 chr1:223284599:T:C 2577_1775_592_N->S 0.140176 391 chr1:223284677:T:C 2577_1697_566_D->G 0.000199681 391 chr1:223284713:T:C 2577_1661_554_D->G 0.00139776 391 chr1:223284723:C:G 2577_1651_551_E->Q 0.000199681 391 chr1:223284731:G:A 2577_1643_548_A->V 0.00159744 391 chr1:223284810:A:G 2577_1564_522_F->L 0.000199681 391 chr1:223284875:C:T 2577_1499_500_G->E 0.000199681 391 chr1:223284915:G:T 2577_1459_487_L->I 0.00379393 391 chr1:223284965:G:A 2577_1409_470_S->L 0.000199681 391 chr1:223284992:G:A 2577_1382_461_S->F 0.000199681 391 chr1:223285089:G:A 2577_1285_429_H->Y 0.000199681 391 chr1:223285199:C:T 2577_1175_392_R->Q 0.000798722 391 chr1:223285203:G:C 2577_1171_391_L->V 0.000199681 391 chr1:223285304:T:C 2577_1070_357_Y->C 0.000399361 391 chr1:223285313:G:A 2577_1061_354_S->L 0.000199681 391 chr1:223285435:A:C 2577_939_313_D->E 0.000798722 391 chr1:223285469:G:A 2577_905_302_S->F 0.000199681 391 chr1:223285578:C:A 2577_796_266_G->C 0.000199681 391 chr1:223285582:G:C 2577_792_264_I->M 0.000199681 391 chr1:223285640:T:C 2577_734_245_N->S 0.000199681 391 chr1:223285697:A:T 2577_677_226_M->K 0.000399361 391 chr1:223285728:A:G 2577_646_216_W->R 0.000199681 391 chr1:223285833:G:T 2577_541_181_Q->K 0.0503195 391 chr1:223285901:C:T 2577_473_158_R->H 0.00179712 391 chr1:223285902:G:A 2577_472_158_R->C 0.000199681 391 chr1:223285910:T:G 2577_464_155_N->T 0.000599042 391 chr1:223285928:C:T 2577_446_149_R->H 0.000199681 391 chr1:223285946:T:G 2577_428_143_N->T 0.0203674 391 chr1:223286040:G:C 2577_334_112_P->A 0.00878594 391 chr1:223286052:A:G 2577_322_108_Y->H 0.000199681 391 chr1:223286129:G:A 2577_245_82_T->I 0.00359425 391 chr1:223286184:A:G 2577_190_64_S->P 0.000199681 391 chr1:223286207:T:C 2577_167_56_N->S 0.000399361 391 chr1:223286273:C:T 2577_101_34_R->H 0.000399361 391 chr1:223286276:T:C 2577_98_33_Y->C 0.000199681 391 na12878 Variants: 391 chr1:223283910:A:G 2577_2464_822_F->L 391 chr1:223284528:A:G 2577_1846_616_F->L 391 snyder Variants: 391 chr1:223283910:A:G 2577_2464_822_F->L 391 chr1:223284528:A:G 2577_1846_616_F->L 392 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000187554_ENST00000342210 gene_Name: TLR5_HUMAN 392 list of pdbs: 392 3J0A pdb_description: 28-Dec-11 - - Homology model of human toll-like receptor 5 fitted into an microscopy single particle reconstruction 392 1P95 pdb_description: 29-Jul-03 Theoret model A structural study of the binding of flagellin by toll-like receptor 5 392 Zimmer Variants: 392 chr1:223283910:A:G 2577_2464_822_F->L 392 chr1:223284528:A:G 2577_1846_616_F->L 392 HGMD Variants: 392 chr1:223285200:G:A 2577_1174_392_R->* 392 chr1:223283825:G:A 2577_2549_850_P->L 392 chr1:223283837:T:C 2577_2537_846_D->G 392 chr1:223283910:A:G 2577_2464_822_F->L 392 chr1:223284293:T:C 2577_2081_694_D->G 392 chr1:223284444:T:A 2577_1930_644_I->F 392 chr1:223284528:A:G 2577_1846_616_F->L 392 chr1:223284599:T:C 2577_1775_592_N->S 392 oneKG Variants: 392 chr1:223285200:G:A 2577_1174_392_R->* 0.0503195 392 chr1:223285215:G:A 2577_1159_387_Q->* 0.000798722 392 chr1:223285458:G:A 2577_916_306_R->* 0.000599042 392 chr1:223286289:G:A 2577_85_29_R->* 0.000199681 392 chr1:223283807:G:A 2577_2567_856_T->I 0.000798722 392 chr1:223283837:T:C 2577_2537_846_D->G 0.00399361 392 chr1:223283910:A:G 2577_2464_822_F->L 0.0 392 chr1:223284047:T:C 2577_2327_776_Q->R 0.000199681 392 chr1:223284056:C:T 2577_2318_773_S->N 0.000399361 392 chr1:223284069:G:A 2577_2305_769_L->F 0.00179712 392 chr1:223284091:G:T 2577_2283_761_H->Q 0.00219649 392 chr1:223284120:T:C 2577_2254_752_R->G 0.00279553 392 chr1:223284214:A:T 2577_2160_720_S->R 0.000599042 392 chr1:223284228:C:T 2577_2146_716_D->N 0.000199681 392 chr1:223284250:C:G 2577_2124_708_Q->H 0.00199681 392 chr1:223284293:T:C 2577_2081_694_D->G 0.000599042 392 chr1:223284414:G:A 2577_1960_654_L->F 0.000199681 392 chr1:223284444:T:A 2577_1930_644_I->F 0.00399361 392 chr1:223284504:G:C 2577_1870_624_L->V 0.000199681 392 chr1:223284528:A:G 2577_1846_616_F->L 0.290335 392 chr1:223284599:T:C 2577_1775_592_N->S 0.140176 392 chr1:223284677:T:C 2577_1697_566_D->G 0.000199681 392 chr1:223284713:T:C 2577_1661_554_D->G 0.00139776 392 chr1:223284723:C:G 2577_1651_551_E->Q 0.000199681 392 chr1:223284731:G:A 2577_1643_548_A->V 0.00159744 392 chr1:223284810:A:G 2577_1564_522_F->L 0.000199681 392 chr1:223284875:C:T 2577_1499_500_G->E 0.000199681 392 chr1:223284915:G:T 2577_1459_487_L->I 0.00379393 392 chr1:223284965:G:A 2577_1409_470_S->L 0.000199681 392 chr1:223284992:G:A 2577_1382_461_S->F 0.000199681 392 chr1:223285089:G:A 2577_1285_429_H->Y 0.000199681 392 chr1:223285199:C:T 2577_1175_392_R->Q 0.000798722 392 chr1:223285203:G:C 2577_1171_391_L->V 0.000199681 392 chr1:223285304:T:C 2577_1070_357_Y->C 0.000399361 392 chr1:223285313:G:A 2577_1061_354_S->L 0.000199681 392 chr1:223285435:A:C 2577_939_313_D->E 0.000798722 392 chr1:223285469:G:A 2577_905_302_S->F 0.000199681 392 chr1:223285578:C:A 2577_796_266_G->C 0.000199681 392 chr1:223285582:G:C 2577_792_264_I->M 0.000199681 392 chr1:223285640:T:C 2577_734_245_N->S 0.000199681 392 chr1:223285697:A:T 2577_677_226_M->K 0.000399361 392 chr1:223285728:A:G 2577_646_216_W->R 0.000199681 392 chr1:223285833:G:T 2577_541_181_Q->K 0.0503195 392 chr1:223285901:C:T 2577_473_158_R->H 0.00179712 392 chr1:223285902:G:A 2577_472_158_R->C 0.000199681 392 chr1:223285910:T:G 2577_464_155_N->T 0.000599042 392 chr1:223285928:C:T 2577_446_149_R->H 0.000199681 392 chr1:223285946:T:G 2577_428_143_N->T 0.0203674 392 chr1:223286040:G:C 2577_334_112_P->A 0.00878594 392 chr1:223286052:A:G 2577_322_108_Y->H 0.000199681 392 chr1:223286129:G:A 2577_245_82_T->I 0.00359425 392 chr1:223286184:A:G 2577_190_64_S->P 0.000199681 392 chr1:223286207:T:C 2577_167_56_N->S 0.000399361 392 chr1:223286273:C:T 2577_101_34_R->H 0.000399361 392 chr1:223286276:T:C 2577_98_33_Y->C 0.000199681 392 na12878 Variants: 392 chr1:223283910:A:G 2577_2464_822_F->L 392 chr1:223284528:A:G 2577_1846_616_F->L 392 snyder Variants: 392 chr1:223283910:A:G 2577_2464_822_F->L 392 chr1:223284528:A:G 2577_1846_616_F->L 393 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154358_ENST00000284548 gene_Name: OBSCN_HUMAN 393 list of pdbs: 393 2YZ8 pdb_description: 06-May-08 X-ray 2.000 Crystal structure of the 32th ig-like domain of human obscur (kiaa1556) 393 2GQH pdb_description: 21-Oct-06 NMR 20 Solution structure of the 15th ig-like domain of human kiaa1556 protein 393 2EO1 pdb_description: 02-Oct-07 NMR 20 Solution structure of the ig domain of human obscn protein 393 2ENY pdb_description: 02-Oct-07 NMR 20 Solution structure of the ig-like domain (2735-2825) of human obscurin 393 2EDW pdb_description: 21-Aug-07 NMR 20 Solution structure of the i-set domain (3537-3630) of human obscurin 393 2EDT pdb_description: 21-Aug-07 NMR 20 Solution structure of the ig-like domain (3449-3537) from human obscurin 393 2EDR pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3361-3449) of human obscurin 393 2EDQ pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3713-3806) of human obscurin 393 2EDL pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3801-3897) of human obscurin 393 2EDH pdb_description: 14-Aug-07 NMR 20 Solution structure of the pdz domain (3614- 3713 ) from huma 393 2EDF pdb_description: 14-Aug-07 NMR 20 Solution structure of the second ig-like domain(2826-2915) from human obscurin 393 2E7B pdb_description: 10-Jul-07 NMR 20 Solution structure of the 6th ig-like domain from human kiaa1556 393 2DM7 pdb_description: 20-Oct-06 NMR 20 Solution structure of the 14th ig-like domain of human kiaa1556 protein 393 2DKU pdb_description: 14-Oct-06 NMR 20 Solution structure of the third ig-like domain of human kiaa1556 protein 393 2CR6 pdb_description: 20-Nov-05 NMR 20 Solution structure of the ig domain (2998-3100) of human obscurin 393 1V1C pdb_description: 14-Apr-05 NMR 20 Solution structure of the sh3 domain of obscurin 393 Zimmer Variants: 393 chr1:228444565:T:A 19863_4523_1508_V->D 393 chr1:228464276:T:C 19863_6346_2116_F->L 393 chr1:228473998:C:T 19863_9224_3075_T->I 393 chr1:228505668:C:G 19863_13925_4642_S->C 393 chr1:228520973:C:G 19863_15805_5269_L->V 393 chr1:228528563:C:G 19863_17671_5891_Q->E 393 chr1:228538568:C:G 19863_18343_6115_R->G 393 chr1:228451826:C:T 19863_4595_1532_A->V 393 chr1:228464248:T:G 19863_6318_2106_D->E 393 chr1:228468458:G:A 19863_8158_2720_V->M 393 chr1:228494790:G:A 19863_12115_4039_G->R 393 chr1:228503677:A:G 19863_13142_4381_H->R 393 chr1:228504472:T:C 19863_13348_4450_C->R 393 chr1:228504670:C:T 19863_13546_4516_R->W 393 chr1:228509427:A:G 19863_14885_4962_D->G 393 HGMD Variants: 393 chr1:228465539:G:A 19863_6839_2280_R->Q 393 chr1:228503566:G:A 19863_13031_4344_R->Q 393 chr1:228505276:G:A 19863_13673_4558_R->H 393 oneKG Variants: 393 chr1:228430931:C:T 19863_2977_993_Q->* 0.000199681 393 chr1:228433293:C:T 19863_3661_1221_R->* 0.000199681 393 chr1:228465550:C:T 19863_6850_2284_R->* 0.000199681 393 chr1:228469903:A:T 19863_8467_2823_R->* 0.0766773 393 chr1:228496931:C:T 19863_12871_4291_Q->* 0.000199681 393 chr1:228525799:C:A 19863_16955_5652_S->* 0.000199681 393 chr1:228527710:C:T 19863_17323_5775_Q->* 0.000199681 393 chr1:228547341:C:T 19863_18748_6250_R->* 0.00179712 393 chr1:228547869:G:T 19863_19276_6426_E->* 0.000199681 393 chr1:228399519:T:A 19863_35_12_F->Y 0.00179712 393 chr1:228399671:G:A 19863_187_63_D->N 0.0245607 393 chr1:228399684:T:C 19863_200_67_L->P 0.000199681 393 chr1:228399695:G:T 19863_211_71_D->Y 0.000199681 393 chr1:228399710:G:T 19863_226_76_D->Y 0.000199681 393 chr1:228399851:G:A 19863_367_123_E->K 0.00399361 393 chr1:228399980:G:A 19863_496_166_A->T 0.000399361 393 chr1:228400076:G:A 19863_592_198_A->T 0.000199681 393 chr1:228400179:C:T 19863_695_232_A->V 0.000399361 393 chr1:228400190:C:T 19863_706_236_P->S 0.000599042 393 chr1:228400211:G:C 19863_727_243_G->R 0.000399361 393 chr1:228400215:C:T 19863_731_244_T->M 0.000399361 393 chr1:228400400:C:T 19863_916_306_R->C,1 0.000399361 393 chr1:228400443:C:T 19863_959_320_T->I,1 0.000199681 393 chr1:228401183:G:C 19863_1030_344_V->L,1 0.000998403 393 chr1:228401265:G:T 19863_1112_371_R->L,1 0.000798722 393 chr1:228401292:T:A 19863_1139_380_I->N,1 0.000199681 393 chr1:228401328:G:A 19863_1175_392_R->H,1 0.000199681 393 chr1:228401352:C:T 19863_1199_400_A->V,1 0.000399361 393 chr1:228401899:G:A 19863_1283_428_R->Q 0.000199681 393 chr1:228401940:G:C 19863_1324_442_V->L 0.000199681 393 chr1:228401967:G:A 19863_1351_451_V->I 0.000199681 393 chr1:228402097:C:G 19863_1481_494_A->G 0.000199681 393 chr1:228402121:A:G 19863_1505_502_Q->R 0.280351 393 chr1:228402133:C:T 19863_1517_506_S->L 0.000399361 393 chr1:228402506:C:T 19863_1535_512_P->L 0.000199681 393 chr1:228402710:C:T 19863_1739_580_A->V 0.000199681 393 chr1:228402745:C:T 19863_1774_592_L->F 0.000399361 393 chr1:228402755:T:A 19863_1784_595_F->Y 0.000199681 393 chr1:228402782:C:T 19863_1811_604_P->L 0.000199681 393 chr1:228403278:G:A 19863_1843_615_V->M 0.000199681 393 chr1:228403360:G:T 19863_1925_642_G->V 0.000998403 393 chr1:228403428:C:T 19863_1993_665_R->W 0.000199681 393 chr1:228403429:G:A 19863_1994_665_R->Q 0.000199681 393 chr1:228403435:C:T 19863_2000_667_T->M 0.000199681 393 chr1:228403476:C:G 19863_2041_681_Q->E 0.000199681 393 chr1:228403488:G:C 19863_2053_685_V->L 0.000199681 393 chr1:228403500:A:C 19863_2065_689_I->L 0.000199681 393 chr1:228404157:G:A 19863_2131_711_A->T 0.000399361 393 chr1:228404229:G:A 19863_2203_735_A->T 0.000199681 393 chr1:228404274:C:A 19863_2248_750_P->T 0.000199681 393 chr1:228404278:A:G 19863_2252_751_K->R 0.000199681 393 chr1:228404292:G:A 19863_2266_756_A->T 0.000399361 393 chr1:228404305:G:A 19863_2279_760_R->Q 0.00279553 393 chr1:228404334:C:T 19863_2308_770_R->W 0.000599042 393 chr1:228404335:G:A 19863_2309_770_R->Q 0.000998403 393 chr1:228404349:C:T 19863_2323_775_L->F 0.000199681 393 chr1:228404368:G:A 19863_2342_781_R->H 0.000998403 393 chr1:228404377:G:A 19863_2351_784_R->H 0.000998403 393 chr1:228404386:A:C 19863_2360_787_Y->S 0.000199681 393 chr1:228404401:A:G 19863_2375_792_Q->R 0.000199681 393 chr1:228404719:G:A 19863_2383_795_A->T 0.000199681 393 chr1:228404762:C:T 19863_2426_809_A->V 0.000399361 393 chr1:228404780:C:T 19863_2444_815_A->V 0.000199681 393 chr1:228404803:G:A 19863_2467_823_E->K 0.000199681 393 chr1:228404804:A:C 19863_2468_823_E->A 0.000199681 393 chr1:228404818:G:T 19863_2482_828_V->L 0.000599042 393 chr1:228404857:G:A 19863_2521_841_G->S 0.000199681 393 chr1:228404864:G:A 19863_2528_843_R->H 0.0071885 393 chr1:228404888:C:T 19863_2552_851_T->M 0.000399361 393 chr1:228404911:A:G 19863_2575_859_T->A 0.000399361 393 chr1:228404948:G:A 19863_2612_871_R->H 0.000199681 393 chr1:228404975:G:A 19863_2639_880_R->Q 0.000199681 393 chr1:228412195:C:T 19863_2689_897_R->C 0.00359425 393 chr1:228412228:G:A 19863_2722_908_A->T 0.284145 393 chr1:228412307:C:T 19863_2801_934_S->L 0.000199681 393 chr1:228412339:C:T 19863_2833_945_R->C 0.000399361 393 chr1:228412370:C:T 19863_2864_955_A->V 0.00179712 393 chr1:228412378:G:A 19863_2872_958_G->R 0.000199681 393 chr1:228412393:G:A 19863_2887_963_E->K 0.000599042 393 chr1:228412415:C:T 19863_2909_970_S->F 0.000399361 393 chr1:228430956:C:T 19863_3002_1001_T->M 0.0 393 chr1:228430962:G:C 19863_3008_1003_S->T 0.000399361 393 chr1:228430963:C:G 19863_3009_1003_S->R 0.000399361 393 chr1:228430967:G:A 19863_3013_1005_E->K 0.000199681 393 chr1:228430986:C:T 19863_3032_1011_T->M 0.000399361 393 chr1:228430992:T:A 19863_3038_1013_V->E 0.000199681 393 chr1:228431034:A:G 19863_3080_1027_K->R 0.0115815 393 chr1:228431094:C:T 19863_3140_1047_T->I 0.000199681 393 chr1:228431102:G:A 19863_3148_1050_G->R 0.000199681 393 chr1:228431127:G:T 19863_3173_1058_G->V 0.000199681 393 chr1:228431145:G:T 19863_3191_1064_R->L 0.000199681 393 chr1:228432047:G:T 19863_3256_1086_A->S 0.0103834 393 chr1:228432080:G:A 19863_3289_1097_E->K 0.000199681 393 chr1:228432108:C:T 19863_3317_1106_T->M 0.000399361 393 chr1:228432113:T:A 19863_3322_1108_Y->N 0.000599042 393 chr1:228432176:C:T 19863_3385_1129_R->W 0.000399361 393 chr1:228432206:G:A 19863_3415_1139_A->T 0.000399361 393 chr1:228432264:A:T 19863_3473_1158_H->L 0.0171725 393 chr1:228433126:T:C 19863_3494_1165_V->A 0.000199681 393 chr1:228433171:C:T 19863_3539_1180_A->V 0.000798722 393 chr1:228433216:C:T 19863_3584_1195_T->I 0.000199681 393 chr1:228433225:C:T 19863_3593_1198_T->M 0.000199681 393 chr1:228433269:C:T 19863_3637_1213_R->C 0.000399361 393 chr1:228433366:T:A 19863_3734_1245_V->D 0.000199681 393 chr1:228433368:T:C 19863_3736_1246_S->P 0.000199681 393 chr1:228433376:A:C 19863_3744_1248_Q->H 0.00559105 393 chr1:228434237:G:A 19863_3766_1256_A->T 0.000199681 393 chr1:228434277:G:A 19863_3806_1269_R->Q 0.000199681 393 chr1:228434381:G:A 19863_3910_1304_V->M 0.000599042 393 chr1:228434384:C:T 19863_3913_1305_R->C 0.000199681 393 chr1:228434409:G:A 19863_3938_1313_R->Q 0.00139776 393 chr1:228434477:C:T 19863_4006_1336_R->W 0.000798722 393 chr1:228434478:G:A 19863_4007_1336_R->Q 0.000199681 393 chr1:228437699:C:A 19863_4067_1356_A->E 0.000199681 393 chr1:228437749:G:A 19863_4117_1373_E->K 0.000199681 393 chr1:228437777:C:T 19863_4145_1382_T->M 0.000399361 393 chr1:228437818:G:A 19863_4186_1396_V->I 0.000199681 393 chr1:228437846:G:A 19863_4214_1405_R->Q 0.00319489 393 chr1:228437876:C:T 19863_4244_1415_A->V 0.000199681 393 chr1:228444385:T:C 19863_4343_1448_V->A 0.0157748 393 chr1:228444439:T:G 19863_4397_1466_V->G 0.000798722 393 chr1:228444562:C:T 19863_4520_1507_A->V 0.000599042 393 chr1:228444565:T:A 19863_4523_1508_V->D 0.0 393 chr1:228444589:C:T 19863_4547_1516_A->V 0.000199681 393 chr1:228444600:C:T 19863_4558_1520_R->W 0.000199681 393 chr1:228451826:C:T 19863_4595_1532_A->V 0.30631 393 chr1:228451993:A:C 19863_4762_1588_T->P 0.000199681 393 chr1:228452016:G:C 19863_4785_1595_E->D 0.00399361 393 chr1:228452032:G:A 19863_4801_1601_A->T 0.0571086 393 chr1:228452035:G:A 19863_4804_1602_G->R 0.000199681 393 chr1:228456233:C:T 19863_4864_1622_P->S 0.000199681 393 chr1:228456245:T:G 19863_4876_1626_F->V 0.000199681 393 chr1:228456270:G:A 19863_4901_1634_R->K 0.000199681 393 chr1:228456276:T:C 19863_4907_1636_V->A 0.000199681 393 chr1:228456294:C:G 19863_4925_1642_A->G 0.000399361 393 chr1:228456296:A:G 19863_4927_1643_S->G 0.000399361 393 chr1:228456382:A:C 19863_5013_1671_K->N 0.000599042 393 chr1:228456389:G:A 19863_5020_1674_V->M 0.000199681 393 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393 chr1:228496075:A:C 19863_12730_4244_T->P 0.000998403 393 chr1:228496831:G:T 19863_12771_4257_Q->H 0.000199681 393 chr1:228496832:G:T 19863_12772_4258_D->Y 0.000199681 393 chr1:228496914:T:C 19863_12854_4285_L->S 0.000199681 393 chr1:228496958:G:A 19863_12898_4300_V->M 0.000199681 393 chr1:228497189:C:T 19863_12941_4314_T->I 0.00119808 393 chr1:228503565:C:T 19863_13030_4344_R->W 0.000399361 393 chr1:228503566:G:A 19863_13031_4344_R->Q 0.033746 393 chr1:228503592:G:A 19863_13057_4353_E->K 0.00219649 393 chr1:228503599:G:T 19863_13064_4355_G->V 0.000199681 393 chr1:228503673:G:C 19863_13138_4380_V->L 0.000399361 393 chr1:228503676:C:T 19863_13141_4381_H->Y 0.000798722 393 chr1:228503677:A:G 19863_13142_4381_H->R 0.299121 393 chr1:228503679:A:G 19863_13144_4382_T->A 0.00339457 393 chr1:228503766:C:T 19863_13231_4411_R->W 0.000199681 393 chr1:228503767:G:A 19863_13232_4411_R->Q 0.000199681 393 chr1:228504416:G:A 19863_13292_4431_R->H 0.000199681 393 chr1:228504455:G:A 19863_13331_4444_R->Q 0.000199681 393 chr1:228504460:G:A 19863_13336_4446_G->S 0.000399361 393 chr1:228504472:T:C 19863_13348_4450_C->R 0.300719 393 chr1:228504493:G:A 19863_13369_4457_E->K 0.000798722 393 chr1:228504535:G:A 19863_13411_4471_A->T 0.000199681 393 chr1:228504536:C:T 19863_13412_4471_A->V 0.000199681 393 chr1:228504574:G:A 19863_13450_4484_A->T 0.00519169 393 chr1:228504577:G:A 19863_13453_4485_D->N 0.000998403 393 chr1:228504586:C:G 19863_13462_4488_H->D 0.0061901 393 chr1:228504591:C:A 19863_13467_4489_H->Q 0.145367 393 chr1:228504592:G:A 19863_13468_4490_A->T 0.000399361 393 chr1:228504614:A:T 19863_13490_4497_Q->L 0.0061901 393 chr1:228504643:G:A 19863_13519_4507_A->T 0.000399361 393 chr1:228504650:G:A 19863_13526_4509_R->H 0.00978435 393 chr1:228504655:G:A 19863_13531_4511_A->T 0.00119808 393 chr1:228504670:C:T 19863_13546_4516_R->W 0.330272 393 chr1:228504676:A:G 19863_13552_4518_T->A 0.000199681 393 chr1:228504685:G:T 19863_13561_4521_G->C 0.000199681 393 chr1:228505204:G:A 19863_13601_4534_R->H 0.315296 393 chr1:228505257:G:A 19863_13654_4552_G->S 0.000399361 393 chr1:228505275:C:T 19863_13672_4558_R->C 0.0135783 393 chr1:228505312:G:A 19863_13709_4570_R->Q 0.000199681 393 chr1:228505368:G:A 19863_13765_4589_G->R 0.000199681 393 chr1:228505423:C:T 19863_13820_4607_P->L 0.000399361 393 chr1:228505446:C:T 19863_13843_4615_R->W 0.000199681 393 chr1:228505659:A:G 19863_13916_4639_E->G 0.000199681 393 chr1:228505668:C:G 19863_13925_4642_S->C 0.300719 393 chr1:228505725:A:C 19863_13982_4661_E->A 0.000399361 393 chr1:228505727:C:T 19863_13984_4662_R->C 0.086262 393 chr1:228505739:G:A 19863_13996_4666_G->S 0.173123 393 chr1:228505788:T:C 19863_14045_4682_I->T 0.000199681 393 chr1:228505857:C:T 19863_14114_4705_A->V 0.000199681 393 chr1:228506687:G:A 19863_14234_4745_R->Q 0.00139776 393 chr1:228506756:C:T 19863_14303_4768_S->L 0.00439297 393 chr1:228506761:C:T 19863_14308_4770_R->C 0.00299521 393 chr1:228506768:C:T 19863_14315_4772_P->L 0.000199681 393 chr1:228506833:C:T 19863_14380_4794_R->C 0.000399361 393 chr1:228506881:C:T 19863_14428_4810_R->W 0.000399361 393 chr1:228506882:G:A 19863_14429_4810_R->Q 0.000199681 393 chr1:228506884:G:A 19863_14431_4811_A->T 0.000199681 393 chr1:228506912:T:C 19863_14459_4820_L->P 0.00419329 393 chr1:228506936:C:T 19863_14483_4828_T->I 0.000199681 393 chr1:228509093:C:A 19863_14551_4851_P->T 0.000599042 393 chr1:228509175:A:C 19863_14633_4878_K->T 0.000199681 393 chr1:228509279:G:T 19863_14737_4913_D->Y 0.00219649 393 chr1:228509288:C:G 19863_14746_4916_R->G 0.000599042 393 chr1:228509321:G:A 19863_14779_4927_V->M 0.000399361 393 chr1:228509367:G:A 19863_14825_4942_R->Q 0.000199681 393 chr1:228509373:A:G 19863_14831_4944_H->R 0.000199681 393 chr1:228509427:A:G 19863_14885_4962_D->G 0.315296 393 chr1:228509430:G:A 19863_14888_4963_R->H 0.000998403 393 chr1:228509544:G:A 19863_15002_5001_G->D 0.000199681 393 chr1:228509555:G:A 19863_15013_5005_D->N 0.00179712 393 chr1:228509567:C:T 19863_15025_5009_R->W 0.000199681 393 chr1:228509588:C:T 19863_15046_5016_R->W 0.000399361 393 chr1:228509589:G:A 19863_15047_5016_R->Q 0.0197684 393 chr1:228509598:G:A 19863_15056_5019_R->H 0.000798722 393 chr1:228509610:C:T 19863_15068_5023_P->L 0.00339457 393 chr1:228509679:C:T 19863_15137_5046_A->V 0.000199681 393 chr1:228509681:G:T 19863_15139_5047_D->Y 0.000599042 393 chr1:228509697:G:A 19863_15155_5052_R->H 0.000199681 393 chr1:228509709:A:G 19863_15167_5056_H->R 0.0 393 chr1:228509733:C:T 19863_15191_5064_A->V 0.00359425 393 chr1:228509763:G:A 19863_15221_5074_R->H 0.000199681 393 chr1:228509850:G:A 19863_15308_5103_S->N 0.000199681 393 chr1:228509861:C:T 19863_15319_5107_P->S 0.000199681 393 chr1:228511034:G:T 19863_15379_5127_V->L 0.000199681 393 chr1:228511128:G:A 19863_15473_5158_R->H 0.000199681 393 chr1:228511157:G:A 19863_15502_5168_E->K 0.000199681 393 chr1:228511197:G:A 19863_15542_5181_G->D 0.000199681 393 chr1:228511200:A:G 19863_15545_5182_H->R 0.000199681 393 chr1:228511220:G:A 19863_15565_5189_V->M 0.000599042 393 chr1:228511221:T:G 19863_15566_5189_V->G 0.000199681 393 chr1:228511264:C:G 19863_15609_5203_N->K 0.000199681 393 chr1:228511284:C:A 19863_15629_5210_T->N 0.000199681 393 chr1:228520630:A:G 19863_15722_5241_Y->C 0.000199681 393 chr1:228520901:C:T 19863_15733_5245_R->W 0.000199681 393 chr1:228520929:C:T 19863_15761_5254_T->I 0.000199681 393 chr1:228520973:C:G 19863_15805_5269_L->V 0.335064 393 chr1:228520994:C:T 19863_15826_5276_R->C 0.000199681 393 chr1:228520995:G:A 19863_15827_5276_R->H 0.00419329 393 chr1:228521334:G:A 19863_15907_5303_A->T 0.000199681 393 chr1:228521366:G:T 19863_15939_5313_K->N 0.000199681 393 chr1:228521394:G:A 19863_15967_5323_V->I 0.00199681 393 chr1:228521410:C:G 19863_15983_5328_S->C 0.000199681 393 chr1:228521458:C:T 19863_16031_5344_S->L 0.000199681 393 chr1:228522531:T:C 19863_16103_5368_L->P 0.000199681 393 chr1:228522537:C:T 19863_16109_5370_P->L 0.00119808 393 chr1:228522555:G:A 19863_16127_5376_R->K 0.000199681 393 chr1:228522561:C:A 19863_16133_5378_T->N 0.000199681 393 chr1:228522587:A:G 19863_16159_5387_S->G 0.000399361 393 chr1:228522798:G:A 19863_16204_5402_V->M 0.000599042 393 chr1:228522816:G:C 19863_16222_5408_E->Q 0.000399361 393 chr1:228522856:C:T 19863_16262_5421_P->L 0.000399361 393 chr1:228522931:C:T 19863_16337_5446_T->I 0.000199681 393 chr1:228522990:G:A 19863_16396_5466_V->I 0.000599042 393 chr1:228522994:C:T 19863_16400_5467_S->L 0.000199681 393 chr1:228523528:C:T 19863_16442_5481_A->V 0.000199681 393 chr1:228524734:G:A 19863_16567_5523_G->S 0.000399361 393 chr1:228524738:A:G 19863_16571_5524_H->R 0.000199681 393 chr1:228524756:T:C 19863_16589_5530_V->A 0.000399361 393 chr1:228524786:C:T 19863_16619_5540_T->I 0.000399361 393 chr1:228525008:G:A 19863_16724_5575_R->H 0.0766773 393 chr1:228525772:G:A 19863_16928_5643_R->H 0.000199681 393 chr1:228525795:C:G 19863_16951_5651_P->A 0.000399361 393 chr1:228525802:G:A 19863_16958_5653_R->Q 0.000199681 393 chr1:228525823:C:T 19863_16979_5660_A->V 0.000998403 393 chr1:228526067:G:T 19863_17078_5693_R->M 0.00139776 393 chr1:228526578:T:A 19863_17109_5703_S->R 0.00439297 393 chr1:228526619:G:A 19863_17150_5717_S->N 0.000399361 393 chr1:228526653:C:A 19863_17184_5728_H->Q 0.00119808 393 chr1:228526694:G:A 19863_17225_5742_R->H 0.000199681 393 chr1:228526703:G:A 19863_17234_5745_R->Q 0.000199681 393 chr1:228526715:G:T 19863_17246_5749_R->L 0.000399361 393 chr1:228527671:G:A 19863_17284_5762_D->N 0.000399361 393 chr1:228527716:G:A 19863_17329_5777_A->T 0.000199681 393 chr1:228527749:C:T 19863_17362_5788_R->C 0.00858626 393 chr1:228527750:G:A 19863_17363_5788_R->H 0.000199681 393 chr1:228527752:G:T 19863_17365_5789_V->L 0.000199681 393 chr1:228527758:G:C 19863_17371_5791_A->P 0.000399361 393 chr1:228527765:C:T 19863_17378_5793_S->L 0.000798722 393 chr1:228528214:C:T 19863_17423_5808_A->V 0.000399361 393 chr1:228528268:A:C 19863_17477_5826_Q->P 0.000599042 393 chr1:228528298:T:C 19863_17507_5836_V->A 0.00279553 393 chr1:228528304:G:A 19863_17513_5838_R->H 0.000199681 393 chr1:228528447:G:A 19863_17555_5852_R->Q 0.000199681 393 chr1:228528464:G:A 19863_17572_5858_A->T 0.000199681 393 chr1:228528465:C:A 19863_17573_5858_A->E 0.000199681 393 chr1:228528530:G:A 19863_17638_5880_V->M 0.000199681 393 chr1:228528549:A:G 19863_17657_5886_Y->C 0.00339457 393 chr1:228528555:G:A 19863_17663_5888_G->D 0.000199681 393 chr1:228528563:C:G 19863_17671_5891_Q->E 0.461262 393 chr1:228528830:C:T 19863_17732_5911_A->V 0.000199681 393 chr1:228528874:C:T 19863_17776_5926_R->C 0.000199681 393 chr1:228528875:G:C 19863_17777_5926_R->P 0.000199681 393 chr1:228528932:A:T 19863_17834_5945_Y->F 0.000199681 393 chr1:228529159:G:A 19863_17878_5960_D->N 0.000199681 393 chr1:228529181:G:T 19863_17900_5967_R->L 0.000199681 393 chr1:228529183:G:A 19863_17902_5968_A->T 0.000399361 393 chr1:228529216:G:C 19863_17935_5979_V->L 0.000199681 393 chr1:228529219:C:G 19863_17938_5980_R->G 0.000399361 393 chr1:228529295:G:C 19863_18014_6005_R->P 0.000199681 393 chr1:228529892:G:A 19863_18107_6036_R->H 0.000199681 393 chr1:228529898:C:T 19863_18113_6038_T->M 0.000199681 393 chr1:228529913:C:G 19863_18128_6043_P->R 0.000199681 393 chr1:228537677:G:A 19863_18235_6079_G->S 0.000199681 393 chr1:228537707:G:A 19863_18265_6089_A->T 0.000199681 393 chr1:228538550:C:T 19863_18325_6109_R->W 0.000399361 393 chr1:228538568:C:G,T 19863_18343_6115_R->G 0.00119808 393 chr1:228538568:C:G,T 19863_18343_6115_R->W 0.00119808 393 chr1:228538569:G:A 19863_18344_6115_R->Q 0.000199681 393 chr1:228538598:G:A 19863_18373_6125_A->T 0.000199681 393 chr1:228538629:C:T 19863_18404_6135_P->L 0.000399361 393 chr1:228538635:C:T 19863_18410_6137_P->L 0.000798722 393 chr1:228539048:C:A 19863_18446_6149_T->N 0.000199681 393 chr1:228539084:G:A 19863_18482_6161_R->H 0.000199681 393 chr1:228539089:G:A 19863_18487_6163_G->S 0.000199681 393 chr1:228540673:G:T 19863_18571_6191_A->S 0.000199681 393 chr1:228540674:C:T 19863_18572_6191_A->V 0.000199681 393 chr1:228540713:T:C 19863_18611_6204_L->P 0.000399361 393 chr1:228540739:G:A 19863_18637_6213_E->K 0.0 393 chr1:228547494:C:G 19863_18901_6301_P->A 0.000399361 393 chr1:228547531:C:G 19863_18938_6313_P->R 0.000199681 393 chr1:228547564:A:C 19863_18971_6324_K->T 0.000399361 393 chr1:228547657:C:T 19863_19064_6355_S->L 0.000399361 393 chr1:228547797:G:A 19863_19204_6402_V->M 0.000199681 393 chr1:228547827:G:C 19863_19234_6412_A->P 0.00898562 393 chr1:228547873:C:T 19863_19280_6427_A->V 0.000399361 393 chr1:228547912:C:T 19863_19319_6440_T->M 0.000199681 393 chr1:228548029:C:A 19863_19436_6479_T->N 0.000399361 393 chr1:228548058:G:A 19863_19465_6489_A->T 0.000399361 393 chr1:228548079:G:A 19863_19486_6496_E->K 0.000199681 393 chr1:228548094:C:G 19863_19501_6501_Q->E 0.000199681 393 chr1:228548106:G:A 19863_19513_6505_G->R 0.000199681 393 chr1:228548112:C:T 19863_19519_6507_P->S 0.00798722 393 chr1:228548116:C:A 19863_19523_6508_T->K 0.0357428 393 chr1:228548197:G:A 19863_19604_6535_R->H 0.147764 393 chr1:228548203:C:T 19863_19610_6537_A->V 0.000199681 393 chr1:228548218:C:A 19863_19625_6542_P->H 0.000199681 393 chr1:228548227:G:A 19863_19634_6545_R->H 0.000199681 393 chr1:228548255:G:C 19863_19662_6554_L->F 0.00239617 393 chr1:228548256:C:T 19863_19663_6555_R->W 0.000199681 393 chr1:228548257:G:C 19863_19664_6555_R->P 0.000199681 393 chr1:228548290:C:T 19863_19697_6566_P->L 0.0081869 393 chr1:228548355:A:G 19863_19762_6588_T->A 0.000599042 393 chr1:228548401:C:T 19863_19808_6603_T->M 0.000199681 393 chr1:228548433:G:T 19863_19840_6614_G->W 0.000399361 393 na12878 Variants: 393 chr1:228412228:G:A 19863_2722_908_A->T 393 chr1:228444565:T:A 19863_4523_1508_V->D 393 chr1:228464276:T:C 19863_6346_2116_F->L 393 chr1:228505668:C:G 19863_13925_4642_S->C 393 chr1:228520973:C:G 19863_15805_5269_L->V 393 chr1:228528563:C:G 19863_17671_5891_Q->E 393 chr1:228464248:T:G 19863_6318_2106_D->E 393 chr1:228494790:G:A 19863_12115_4039_G->R 393 chr1:228503677:A:G 19863_13142_4381_H->R 393 chr1:228504472:T:C 19863_13348_4450_C->R 393 chr1:228504670:C:T 19863_13546_4516_R->W 393 chr1:228509427:A:G 19863_14885_4962_D->G 393 snyder Variants: 393 chr1:228444565:T:A 19863_4523_1508_V->D 393 chr1:228464276:T:C 19863_6346_2116_F->L 393 chr1:228469801:G:C 19863_8365_2789_G->R 393 chr1:228505668:C:G 19863_13925_4642_S->C 393 chr1:228520973:C:G 19863_15805_5269_L->V 393 chr1:228525008:G:A 19863_16724_5575_R->H 393 chr1:228528563:C:G 19863_17671_5891_Q->E 393 chr1:228451826:C:T 19863_4595_1532_A->V 393 chr1:228464248:T:G 19863_6318_2106_D->E 393 chr1:228468458:G:A 19863_8158_2720_V->M 393 chr1:228494790:G:A 19863_12115_4039_G->R 393 chr1:228503677:A:G 19863_13142_4381_H->R 393 chr1:228504472:T:C 19863_13348_4450_C->R 393 chr1:228504591:C:A 19863_13467_4489_H->Q 393 chr1:228504670:C:T 19863_13546_4516_R->W 393 chr1:228505739:G:A 19863_13996_4666_G->S 393 chr1:228509427:A:G 19863_14885_4962_D->G 394 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154358_ENST00000422127 gene_Name: OBSCN_HUMAN 394 list of pdbs: 394 2YZ8 pdb_description: 06-May-08 X-ray 2.000 Crystal structure of the 32th ig-like domain of human obscur (kiaa1556) 394 2GQH pdb_description: 21-Oct-06 NMR 20 Solution structure of the 15th ig-like domain of human kiaa1556 protein 394 2EO1 pdb_description: 02-Oct-07 NMR 20 Solution structure of the ig domain of human obscn protein 394 2ENY pdb_description: 02-Oct-07 NMR 20 Solution structure of the ig-like domain (2735-2825) of human obscurin 394 2EDW pdb_description: 21-Aug-07 NMR 20 Solution structure of the i-set domain (3537-3630) of human obscurin 394 2EDT pdb_description: 21-Aug-07 NMR 20 Solution structure of the ig-like domain (3449-3537) from human obscurin 394 2EDR pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3361-3449) of human obscurin 394 2EDQ pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3713-3806) of human obscurin 394 2EDL pdb_description: 14-Aug-07 NMR 20 Solution structure of the ig-like domain (3801-3897) of human obscurin 394 2EDH pdb_description: 14-Aug-07 NMR 20 Solution structure of the pdz domain (3614- 3713 ) from huma 394 2EDF pdb_description: 14-Aug-07 NMR 20 Solution structure of the second ig-like domain(2826-2915) from human obscurin 394 2E7B pdb_description: 10-Jul-07 NMR 20 Solution structure of the 6th ig-like domain from human kiaa1556 394 2DM7 pdb_description: 20-Oct-06 NMR 20 Solution structure of the 14th ig-like domain of human kiaa1556 protein 394 2DKU pdb_description: 14-Oct-06 NMR 20 Solution structure of the third ig-like domain of human kiaa1556 protein 394 2CR6 pdb_description: 20-Nov-05 NMR 20 Solution structure of the ig domain (2998-3100) of human obscurin 394 1V1C pdb_description: 14-Apr-05 NMR 20 Solution structure of the sh3 domain of obscurin 394 Zimmer Variants: 394 chr1:228444565:T:A 23907_4523_1508_V->D 394 chr1:228464276:T:C 23907_6346_2116_F->L 394 chr1:228473998:C:T 23907_9224_3075_T->I 394 chr1:228505668:C:G 23907_13925_4642_S->C 394 chr1:228520973:C:G 23907_15805_5269_L->V 394 chr1:228528563:C:G 23907_17671_5891_Q->E 394 chr1:228538568:C:G 23907_18343_6115_R->G 394 chr1:228451826:C:T 23907_4595_1532_A->V 394 chr1:228464248:T:G 23907_6318_2106_D->E 394 chr1:228468458:G:A 23907_8158_2720_V->M 394 chr1:228494790:G:A 23907_12115_4039_G->R 394 chr1:228503677:A:G 23907_13142_4381_H->R 394 chr1:228504472:T:C 23907_13348_4450_C->R 394 chr1:228504670:C:T 23907_13546_4516_R->W 394 chr1:228509427:A:G 23907_14885_4962_D->G 394 HGMD Variants: 394 chr1:228465539:G:A 23907_6839_2280_R->Q 394 chr1:228503566:G:A 23907_13031_4344_R->Q 394 chr1:228505276:G:A 23907_13673_4558_R->H 394 oneKG Variants: 394 chr1:228430931:C:T 23907_2977_993_Q->* 0.000199681 394 chr1:228433293:C:T 23907_3661_1221_R->* 0.000199681 394 chr1:228465550:C:T 23907_6850_2284_R->* 0.000199681 394 chr1:228469903:A:T 23907_8467_2823_R->* 0.0766773 394 chr1:228496931:C:T 23907_12871_4291_Q->* 0.000199681 394 chr1:228525799:C:A 23907_16955_5652_S->* 0.000199681 394 chr1:228527710:C:T 23907_17323_5775_Q->* 0.000199681 394 chr1:228559439:C:A 23907_20960_6987_S->* 0.000199681 394 chr1:228559858:C:T 23907_21379_7127_Q->* 0.000199681 394 chr1:228565263:C:T 23907_23353_7785_Q->* 0.000399361 394 chr1:228399519:T:A 23907_35_12_F->Y 0.00179712 394 chr1:228399671:G:A 23907_187_63_D->N 0.0245607 394 chr1:228399684:T:C 23907_200_67_L->P 0.000199681 394 chr1:228399695:G:T 23907_211_71_D->Y 0.000199681 394 chr1:228399710:G:T 23907_226_76_D->Y 0.000199681 394 chr1:228399851:G:A 23907_367_123_E->K 0.00399361 394 chr1:228399980:G:A 23907_496_166_A->T 0.000399361 394 chr1:228400076:G:A 23907_592_198_A->T 0.000199681 394 chr1:228400179:C:T 23907_695_232_A->V 0.000399361 394 chr1:228400190:C:T 23907_706_236_P->S 0.000599042 394 chr1:228400211:G:C 23907_727_243_G->R 0.000399361 394 chr1:228400215:C:T 23907_731_244_T->M 0.000399361 394 chr1:228400400:C:T 23907_916_306_R->C 0.000399361 394 chr1:228400443:C:T 23907_959_320_T->I 0.000199681 394 chr1:228401183:G:C 23907_1030_344_V->L 0.000998403 394 chr1:228401265:G:T 23907_1112_371_R->L 0.000798722 394 chr1:228401292:T:A 23907_1139_380_I->N 0.000199681 394 chr1:228401328:G:A 23907_1175_392_R->H 0.000199681 394 chr1:228401352:C:T 23907_1199_400_A->V 0.000399361 394 chr1:228401899:G:A 23907_1283_428_R->Q 0.000199681 394 chr1:228401940:G:C 23907_1324_442_V->L 0.000199681 394 chr1:228401967:G:A 23907_1351_451_V->I 0.000199681 394 chr1:228402097:C:G 23907_1481_494_A->G 0.000199681 394 chr1:228402121:A:G 23907_1505_502_Q->R 0.280351 394 chr1:228402133:C:T 23907_1517_506_S->L 0.000399361 394 chr1:228402506:C:T 23907_1535_512_P->L 0.000199681 394 chr1:228402710:C:T 23907_1739_580_A->V 0.000199681 394 chr1:228402745:C:T 23907_1774_592_L->F 0.000399361 394 chr1:228402755:T:A 23907_1784_595_F->Y 0.000199681 394 chr1:228402782:C:T 23907_1811_604_P->L 0.000199681 394 chr1:228403278:G:A 23907_1843_615_V->M 0.000199681 394 chr1:228403360:G:T 23907_1925_642_G->V 0.000998403 394 chr1:228403428:C:T 23907_1993_665_R->W 0.000199681 394 chr1:228403429:G:A 23907_1994_665_R->Q 0.000199681 394 chr1:228403435:C:T 23907_2000_667_T->M 0.000199681 394 chr1:228403476:C:G 23907_2041_681_Q->E 0.000199681 394 chr1:228403488:G:C 23907_2053_685_V->L 0.000199681 394 chr1:228403500:A:C 23907_2065_689_I->L 0.000199681 394 chr1:228404157:G:A 23907_2131_711_A->T 0.000399361 394 chr1:228404229:G:A 23907_2203_735_A->T 0.000199681 394 chr1:228404274:C:A 23907_2248_750_P->T 0.000199681 394 chr1:228404278:A:G 23907_2252_751_K->R 0.000199681 394 chr1:228404292:G:A 23907_2266_756_A->T 0.000399361 394 chr1:228404305:G:A 23907_2279_760_R->Q 0.00279553 394 chr1:228404334:C:T 23907_2308_770_R->W 0.000599042 394 chr1:228404335:G:A 23907_2309_770_R->Q 0.000998403 394 chr1:228404349:C:T 23907_2323_775_L->F 0.000199681 394 chr1:228404368:G:A 23907_2342_781_R->H 0.000998403 394 chr1:228404377:G:A 23907_2351_784_R->H 0.000998403 394 chr1:228404386:A:C 23907_2360_787_Y->S 0.000199681 394 chr1:228404401:A:G 23907_2375_792_Q->R 0.000199681 394 chr1:228404719:G:A 23907_2383_795_A->T 0.000199681 394 chr1:228404762:C:T 23907_2426_809_A->V 0.000399361 394 chr1:228404780:C:T 23907_2444_815_A->V 0.000199681 394 chr1:228404803:G:A 23907_2467_823_E->K 0.000199681 394 chr1:228404804:A:C 23907_2468_823_E->A 0.000199681 394 chr1:228404818:G:T 23907_2482_828_V->L 0.000599042 394 chr1:228404857:G:A 23907_2521_841_G->S 0.000199681 394 chr1:228404864:G:A 23907_2528_843_R->H 0.0071885 394 chr1:228404888:C:T 23907_2552_851_T->M 0.000399361 394 chr1:228404911:A:G 23907_2575_859_T->A 0.000399361 394 chr1:228404948:G:A 23907_2612_871_R->H 0.000199681 394 chr1:228404975:G:A 23907_2639_880_R->Q 0.000199681 394 chr1:228412195:C:T 23907_2689_897_R->C 0.00359425 394 chr1:228412228:G:A 23907_2722_908_A->T 0.284145 394 chr1:228412307:C:T 23907_2801_934_S->L 0.000199681 394 chr1:228412339:C:T 23907_2833_945_R->C 0.000399361 394 chr1:228412370:C:T 23907_2864_955_A->V 0.00179712 394 chr1:228412378:G:A 23907_2872_958_G->R 0.000199681 394 chr1:228412393:G:A 23907_2887_963_E->K 0.000599042 394 chr1:228412415:C:T 23907_2909_970_S->F 0.000399361 394 chr1:228430956:C:T 23907_3002_1001_T->M 0.0 394 chr1:228430962:G:C 23907_3008_1003_S->T 0.000399361 394 chr1:228430963:C:G 23907_3009_1003_S->R 0.000399361 394 chr1:228430967:G:A 23907_3013_1005_E->K 0.000199681 394 chr1:228430986:C:T 23907_3032_1011_T->M 0.000399361 394 chr1:228430992:T:A 23907_3038_1013_V->E 0.000199681 394 chr1:228431034:A:G 23907_3080_1027_K->R 0.0115815 394 chr1:228431094:C:T 23907_3140_1047_T->I 0.000199681 394 chr1:228431102:G:A 23907_3148_1050_G->R 0.000199681 394 chr1:228431127:G:T 23907_3173_1058_G->V 0.000199681 394 chr1:228431145:G:T 23907_3191_1064_R->L 0.000199681 394 chr1:228432047:G:T 23907_3256_1086_A->S 0.0103834 394 chr1:228432080:G:A 23907_3289_1097_E->K 0.000199681 394 chr1:228432108:C:T 23907_3317_1106_T->M 0.000399361 394 chr1:228432113:T:A 23907_3322_1108_Y->N 0.000599042 394 chr1:228432176:C:T 23907_3385_1129_R->W 0.000399361 394 chr1:228432206:G:A 23907_3415_1139_A->T 0.000399361 394 chr1:228432264:A:T 23907_3473_1158_H->L 0.0171725 394 chr1:228433126:T:C 23907_3494_1165_V->A 0.000199681 394 chr1:228433171:C:T 23907_3539_1180_A->V 0.000798722 394 chr1:228433216:C:T 23907_3584_1195_T->I 0.000199681 394 chr1:228433225:C:T 23907_3593_1198_T->M 0.000199681 394 chr1:228433269:C:T 23907_3637_1213_R->C 0.000399361 394 chr1:228433366:T:A 23907_3734_1245_V->D 0.000199681 394 chr1:228433368:T:C 23907_3736_1246_S->P 0.000199681 394 chr1:228433376:A:C 23907_3744_1248_Q->H 0.00559105 394 chr1:228434237:G:A 23907_3766_1256_A->T 0.000199681 394 chr1:228434277:G:A 23907_3806_1269_R->Q 0.000199681 394 chr1:228434381:G:A 23907_3910_1304_V->M 0.000599042 394 chr1:228434384:C:T 23907_3913_1305_R->C 0.000199681 394 chr1:228434409:G:A 23907_3938_1313_R->Q 0.00139776 394 chr1:228434477:C:T 23907_4006_1336_R->W 0.000798722 394 chr1:228434478:G:A 23907_4007_1336_R->Q 0.000199681 394 chr1:228437699:C:A 23907_4067_1356_A->E 0.000199681 394 chr1:228437749:G:A 23907_4117_1373_E->K 0.000199681 394 chr1:228437777:C:T 23907_4145_1382_T->M 0.000399361 394 chr1:228437818:G:A 23907_4186_1396_V->I 0.000199681 394 chr1:228437846:G:A 23907_4214_1405_R->Q 0.00319489 394 chr1:228437876:C:T 23907_4244_1415_A->V 0.000199681 394 chr1:228444385:T:C 23907_4343_1448_V->A 0.0157748 394 chr1:228444439:T:G 23907_4397_1466_V->G 0.000798722 394 chr1:228444562:C:T 23907_4520_1507_A->V 0.000599042 394 chr1:228444565:T:A 23907_4523_1508_V->D 0.0 394 chr1:228444589:C:T 23907_4547_1516_A->V 0.000199681 394 chr1:228444600:C:T 23907_4558_1520_R->W 0.000199681 394 chr1:228451826:C:T 23907_4595_1532_A->V 0.30631 394 chr1:228451993:A:C 23907_4762_1588_T->P 0.000199681 394 chr1:228452016:G:C 23907_4785_1595_E->D 0.00399361 394 chr1:228452032:G:A 23907_4801_1601_A->T 0.0571086 394 chr1:228452035:G:A 23907_4804_1602_G->R 0.000199681 394 chr1:228456233:C:T 23907_4864_1622_P->S 0.000199681 394 chr1:228456245:T:G 23907_4876_1626_F->V 0.000199681 394 chr1:228456270:G:A 23907_4901_1634_R->K 0.000199681 394 chr1:228456276:T:C 23907_4907_1636_V->A 0.000199681 394 chr1:228456294:C:G 23907_4925_1642_A->G 0.000399361 394 chr1:228456296:A:G 23907_4927_1643_S->G 0.000399361 394 chr1:228456382:A:C 23907_5013_1671_K->N 0.000599042 394 chr1:228456389:G:A 23907_5020_1674_V->M 0.000199681 394 chr1:228456449:G:A 23907_5080_1694_G->R 0.000199681 394 chr1:228456474:G:T 23907_5105_1702_G->V 0.000199681 394 chr1:228456491:C:T 23907_5122_1708_R->C 0.000199681 394 chr1:228461492:A:G 23907_5159_1720_E->G 0.000399361 394 chr1:228461504:G:A 23907_5171_1724_R->H 0.00139776 394 chr1:228461527:G:C 23907_5194_1732_E->Q 0.000199681 394 chr1:228461552:C:A 23907_5219_1740_A->D 0.00119808 394 chr1:228461579:C:T 23907_5246_1749_T->M 0.000199681 394 chr1:228461599:G:T 23907_5266_1756_G->C 0.000599042 394 chr1:228461605:G:C 23907_5272_1758_E->Q 0.000798722 394 chr1:228461611:C:T 23907_5278_1760_R->C 0.0061901 394 chr1:228461615:G:A 23907_5282_1761_R->H 0.00938498 394 chr1:228461668:C:A 23907_5335_1779_H->N 0.000199681 394 chr1:228461741:A:C 23907_5408_1803_Q->P 0.000399361 394 chr1:228461887:G:A 23907_5425_1809_A->T 0.000199681 394 chr1:228461899:C:T 23907_5437_1813_R->W 0.000399361 394 chr1:228461900:G:A 23907_5438_1813_R->Q 0.000399361 394 chr1:228461936:C:T 23907_5474_1825_T->M 0.00119808 394 chr1:228461966:C:T 23907_5504_1835_A->V 0.000199681 394 chr1:228461986:C:T 23907_5524_1842_R->C 0.000599042 394 chr1:228461999:C:T 23907_5537_1846_T->M 0.000399361 394 chr1:228462003:G:C 23907_5541_1847_Q->H 0.000399361 394 chr1:228462019:C:T 23907_5557_1853_R->C 0.000199681 394 chr1:228462076:G:A 23907_5614_1872_A->T 0.000199681 394 chr1:228462131:A:C 23907_5669_1890_Q->P 0.000399361 394 chr1:228462139:G:A 23907_5677_1893_V->I 0.000199681 394 chr1:228462317:G:A 23907_5728_1910_A->T 0.000199681 394 chr1:228462332:G:A 23907_5743_1915_E->K 0.0129792 394 chr1:228462377:G:A 23907_5788_1930_V->M 0.00139776 394 chr1:228462420:T:C 23907_5831_1944_F->S 0.000199681 394 chr1:228462456:C:G 23907_5867_1956_T->S 0.000199681 394 chr1:228462510:G:A 23907_5921_1974_G->D 0.00119808 394 chr1:228463464:C:T 23907_5957_1986_A->V 0.000199681 394 chr1:228463493:C:T 23907_5986_1996_P->S 0.000199681 394 chr1:228463508:G:A 23907_6001_2001_E->K 0.000199681 394 chr1:228463548:C:A 23907_6041_2014_P->Q 0.000998403 394 chr1:228463592:C:T 23907_6085_2029_P->S 0.000199681 394 chr1:228463667:C:T 23907_6160_2054_R->C 0.000199681 394 chr1:228464171:C:T 23907_6241_2081_R->W 0.000399361 394 chr1:228464248:T:G 23907_6318_2106_D->E 0.304513 394 chr1:228464255:T:C 23907_6325_2109_W->R 0.00259585 394 chr1:228464261:C:T 23907_6331_2111_R->C 0.000199681 394 chr1:228464267:G:T 23907_6337_2113_G->C 0.00499201 394 chr1:228464276:T:C 23907_6346_2116_F->L 0.336462 394 chr1:228464303:G:T 23907_6373_2125_A->S 0.00459265 394 chr1:228464316:C:G 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23907_23687_7896_G->D 0.000199681 394 chr1:228566102:A:T 23907_23710_7904_T->S 0.000199681 394 chr1:228566330:G:A 23907_23741_7914_C->Y 0.000199681 394 chr1:228566354:C:G 23907_23765_7922_P->R 0.000199681 394 chr1:228566378:C:G 23907_23789_7930_A->G 0.000199681 394 chr1:228566380:T:C 23907_23791_7931_C->R 0.00379393 394 chr1:228566387:G:A 23907_23798_7933_R->Q 0.00339457 394 chr1:228566398:G:A 23907_23809_7937_V->M 0.000599042 394 chr1:228566473:C:T 23907_23884_7962_H->Y 0.000798722 394 na12878 Variants: 394 chr1:228412228:G:A 23907_2722_908_A->T 394 chr1:228444565:T:A 23907_4523_1508_V->D 394 chr1:228464276:T:C 23907_6346_2116_F->L 394 chr1:228505668:C:G 23907_13925_4642_S->C 394 chr1:228520973:C:G 23907_15805_5269_L->V 394 chr1:228528563:C:G 23907_17671_5891_Q->E 394 chr1:228559967:C:T 23907_21488_7163_P->L 394 chr1:228559994:C:T 23907_21515_7172_A->V 394 chr1:228464248:T:G 23907_6318_2106_D->E 394 chr1:228494790:G:A 23907_12115_4039_G->R 394 chr1:228503677:A:G 23907_13142_4381_H->R 394 chr1:228504472:T:C 23907_13348_4450_C->R 394 chr1:228504670:C:T 23907_13546_4516_R->W 394 chr1:228509427:A:G 23907_14885_4962_D->G 394 snyder Variants: 394 chr1:228444565:T:A 23907_4523_1508_V->D 394 chr1:228464276:T:C 23907_6346_2116_F->L 394 chr1:228469801:G:C 23907_8365_2789_G->R 394 chr1:228505668:C:G 23907_13925_4642_S->C 394 chr1:228520973:C:G 23907_15805_5269_L->V 394 chr1:228525008:G:A 23907_16724_5575_R->H 394 chr1:228528563:C:G 23907_17671_5891_Q->E 394 chr1:228451826:C:T 23907_4595_1532_A->V 394 chr1:228464248:T:G 23907_6318_2106_D->E 394 chr1:228468458:G:A 23907_8158_2720_V->M 394 chr1:228494790:G:A 23907_12115_4039_G->R 394 chr1:228503677:A:G 23907_13142_4381_H->R 394 chr1:228504472:T:C 23907_13348_4450_C->R 394 chr1:228504591:C:A 23907_13467_4489_H->Q 394 chr1:228504670:C:T 23907_13546_4516_R->W 394 chr1:228505739:G:A 23907_13996_4666_G->S 394 chr1:228509427:A:G 23907_14885_4962_D->G 395 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000527974 gene_Name: LEG8_HUMAN 395 list of pdbs: 395 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 395 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 395 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 395 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 395 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 395 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 395 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 395 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 395 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 395 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 395 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 395 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 395 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 395 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 395 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 395 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 395 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 395 Zimmer Variants: 395 chr1:236700807:T:A 1080_56_19_F->Y 395 chr1:236700857:C:T 1080_106_36_R->C 395 chr1:236706862:G:C 1080_678_226_R->S;GENE=LGALS8;CDSS=1 395 HGMD Variants: 395 chr1:236700807:T:A 1080_56_19_F->Y 395 oneKG Variants: 395 chr1:236702219:C:T 1080_175_59_R->* 0.000399361 395 chr1:236706300:T:A 1080_635_212_L->* 0.13119 395 chr1:236706905:C:T 1080_721_241_R->* 0.000199681 395 chr1:236700807:T:A 1080_56_19_F->Y 0.4998 395 chr1:236700809:G:C 1080_58_20_V->L 0.00139776 395 chr1:236700857:C:T 1080_106_36_R->C 0.5 395 chr1:236700878:G:A 1080_127_43_A->T 0.000199681 395 chr1:236702210:A:G 1080_166_56_M->V 0.369609 395 chr1:236702246:C:T 1080_202_68_P->S 0.000199681 395 chr1:236702249:C:T 1080_205_69_R->C 0.000199681 395 chr1:236702360:G:T 1080_316_106_V->L 0.000199681 395 chr1:236703922:T:C 1080_404_135_I->T 0.000199681 395 chr1:236703982:C:T 1080_464_155_S->L 0.000199681 395 chr1:236704978:A:G 1080_490_164_S->G 0.000199681 395 chr1:236704987:C:G 1080_499_167_L->V 0.000199681 395 chr1:236706086:T:C 1080_548_183_L->P 0.000199681 395 chr1:236706234:A:G 1080_569_190_D->G 0.0273562 395 chr1:236706272:A:G 1080_607_203_S->G 0.000399361 395 chr1:236706278:G:T 1080_613_205_D->Y 0.13119 395 chr1:236706862:G:C 1080_678_226_R->S 0.322284 395 chr1:236706917:G:A 1080_733_245_V->I 0.000199681 395 chr1:236706923:G:A 1080_739_247_G->R 0.000199681 395 chr1:236706948:G:C 1080_764_255_S->T 0.000199681 395 chr1:236708088:T:C 1080_803_268_I->T 0.000399361 395 chr1:236708121:A:C 1080_836_279_K->T 0.000199681 395 chr1:236708172:G:A 1080_887_296_R->K 0.000199681 395 chr1:236711344:G:T 1080_963_321_K->N 0.000599042 395 chr1:236711372:G:C 1080_991_331_E->Q 0.000199681 395 na12878 Variants: 395 chr1:236700807:T:A 1080_56_19_F->Y 395 chr1:236700857:C:T 1080_106_36_R->C 395 chr1:236706862:G:C 1080_678_226_R->S 395 snyder Variants: 395 chr1:236700807:T:A 1080_56_19_F->Y 395 chr1:236700857:C:T 1080_106_36_R->C 395 chr1:236706862:G:C 1080_678_226_R->S 396 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000352231 gene_Name: LEG8_HUMAN 396 list of pdbs: 396 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 396 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 396 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 396 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 396 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 396 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 396 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 396 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 396 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 396 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 396 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 396 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 396 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 396 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 396 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 396 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 396 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 396 Zimmer Variants: 396 chr1:236700807:T:A 1080_56_19_F->Y 396 chr1:236700857:C:T 1080_106_36_R->C 396 chr1:236706862:G:C 1080_678_226_R->S 396 HGMD Variants: 396 chr1:236700807:T:A 1080_56_19_F->Y 396 oneKG Variants: 396 chr1:236702219:C:T 1080_175_59_R->* 0.000399361 396 chr1:236706300:T:A 1080_635_212_L->* 0.13119 396 chr1:236706905:C:T 1080_721_241_R->* 0.000199681 396 chr1:236700807:T:A 1080_56_19_F->Y 0.4998 396 chr1:236700809:G:C 1080_58_20_V->L 0.00139776 396 chr1:236700857:C:T 1080_106_36_R->C 0.5 396 chr1:236700878:G:A 1080_127_43_A->T 0.000199681 396 chr1:236702210:A:G 1080_166_56_M->V 0.369609 396 chr1:236702246:C:T 1080_202_68_P->S 0.000199681 396 chr1:236702249:C:T 1080_205_69_R->C 0.000199681 396 chr1:236702360:G:T 1080_316_106_V->L 0.000199681 396 chr1:236703922:T:C 1080_404_135_I->T 0.000199681 396 chr1:236703982:C:T 1080_464_155_S->L 0.000199681 396 chr1:236704978:A:G 1080_490_164_S->G 0.000199681 396 chr1:236704987:C:G 1080_499_167_L->V 0.000199681 396 chr1:236706086:T:C 1080_548_183_L->P 0.000199681 396 chr1:236706234:A:G 1080_569_190_D->G 0.0273562 396 chr1:236706272:A:G 1080_607_203_S->G 0.000399361 396 chr1:236706278:G:T 1080_613_205_D->Y 0.13119 396 chr1:236706862:G:C 1080_678_226_R->S 0.322284 396 chr1:236706917:G:A 1080_733_245_V->I 0.000199681 396 chr1:236706923:G:A 1080_739_247_G->R 0.000199681 396 chr1:236706948:G:C 1080_764_255_S->T 0.000199681 396 chr1:236708088:T:C 1080_803_268_I->T 0.000399361 396 chr1:236708121:A:C 1080_836_279_K->T 0.000199681 396 chr1:236708172:G:A 1080_887_296_R->K 0.000199681 396 chr1:236711344:G:T 1080_963_321_K->N 0.000599042 396 chr1:236711372:G:C 1080_991_331_E->Q 0.000199681 396 na12878 Variants: 396 chr1:236700807:T:A 1080_56_19_F->Y 396 chr1:236700857:C:T 1080_106_36_R->C 396 chr1:236706862:G:C 1080_678_226_R->S 396 snyder Variants: 396 chr1:236700807:T:A 1080_56_19_F->Y 396 chr1:236700857:C:T 1080_106_36_R->C 396 chr1:236706862:G:C 1080_678_226_R->S 397 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000526589 gene_Name: LEG8_HUMAN 397 list of pdbs: 397 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 397 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 397 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 397 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 397 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 397 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 397 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 397 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 397 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 397 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 397 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 397 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 397 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 397 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 397 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 397 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 397 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 397 Zimmer Variants: 397 chr1:236700807:T:A 1080_56_19_F->Y 397 chr1:236700857:C:T 1080_106_36_R->C 397 chr1:236706862:G:C 1080_678_226_R->S 397 HGMD Variants: 397 chr1:236700807:T:A 1080_56_19_F->Y 397 oneKG Variants: 397 chr1:236702219:C:T 1080_175_59_R->* 0.000399361 397 chr1:236706300:T:A 1080_635_212_L->* 0.13119 397 chr1:236706905:C:T 1080_721_241_R->* 0.000199681 397 chr1:236700807:T:A 1080_56_19_F->Y 0.4998 397 chr1:236700809:G:C 1080_58_20_V->L 0.00139776 397 chr1:236700857:C:T 1080_106_36_R->C 0.5 397 chr1:236700878:G:A 1080_127_43_A->T 0.000199681 397 chr1:236702210:A:G 1080_166_56_M->V 0.369609 397 chr1:236702246:C:T 1080_202_68_P->S 0.000199681 397 chr1:236702249:C:T 1080_205_69_R->C 0.000199681 397 chr1:236702360:G:T 1080_316_106_V->L 0.000199681 397 chr1:236703922:T:C 1080_404_135_I->T 0.000199681 397 chr1:236703982:C:T 1080_464_155_S->L 0.000199681 397 chr1:236704978:A:G 1080_490_164_S->G 0.000199681 397 chr1:236704987:C:G 1080_499_167_L->V 0.000199681 397 chr1:236706086:T:C 1080_548_183_L->P 0.000199681 397 chr1:236706234:A:G 1080_569_190_D->G 0.0273562 397 chr1:236706272:A:G 1080_607_203_S->G 0.000399361 397 chr1:236706278:G:T 1080_613_205_D->Y 0.13119 397 chr1:236706862:G:C 1080_678_226_R->S 0.322284 397 chr1:236706917:G:A 1080_733_245_V->I 0.000199681 397 chr1:236706923:G:A 1080_739_247_G->R 0.000199681 397 chr1:236706948:G:C 1080_764_255_S->T 0.000199681 397 chr1:236708088:T:C 1080_803_268_I->T 0.000399361 397 chr1:236708121:A:C 1080_836_279_K->T 0.000199681 397 chr1:236708172:G:A 1080_887_296_R->K 0.000199681 397 chr1:236711344:G:T 1080_963_321_K->N 0.000599042 397 chr1:236711372:G:C 1080_991_331_E->Q 0.000199681 397 na12878 Variants: 397 chr1:236700807:T:A 1080_56_19_F->Y 397 chr1:236700857:C:T 1080_106_36_R->C 397 chr1:236706862:G:C 1080_678_226_R->S 397 snyder Variants: 397 chr1:236700807:T:A 1080_56_19_F->Y 397 chr1:236700857:C:T 1080_106_36_R->C 397 chr1:236706862:G:C 1080_678_226_R->S 398 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000341872 gene_Name: LEG8_HUMAN 398 list of pdbs: 398 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 398 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 398 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 398 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 398 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 398 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 398 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 398 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 398 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 398 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 398 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 398 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 398 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 398 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 398 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 398 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 398 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 398 Zimmer Variants: 398 chr1:236700807:T:A 954_56_19_F->Y 398 chr1:236700857:C:T 954_106_36_R->C 398 chr1:236706862:G:C 954_552_184_R->S 398 HGMD Variants: 398 chr1:236700807:T:A 954_56_19_F->Y 398 oneKG Variants: 398 chr1:236702219:C:T 954_175_59_R->* 0.000399361 398 chr1:236706905:C:T 954_595_199_R->* 0.000199681 398 chr1:236700807:T:A 954_56_19_F->Y 0.4998 398 chr1:236700809:G:C 954_58_20_V->L 0.00139776 398 chr1:236700857:C:T 954_106_36_R->C 0.5 398 chr1:236700878:G:A 954_127_43_A->T 0.000199681 398 chr1:236702210:A:G 954_166_56_M->V 0.369609 398 chr1:236702246:C:T 954_202_68_P->S 0.000199681 398 chr1:236702249:C:T 954_205_69_R->C 0.000199681 398 chr1:236702360:G:T 954_316_106_V->L 0.000199681 398 chr1:236703922:T:C 954_404_135_I->T 0.000199681 398 chr1:236703982:C:T 954_464_155_S->L 0.000199681 398 chr1:236704978:A:G 954_490_164_S->G 0.000199681 398 chr1:236704987:C:G 954_499_167_L->V 0.000199681 398 chr1:236706086:T:C 954_548_183_L->P 0.000199681 398 chr1:236706862:G:C 954_552_184_R->S 0.322284 398 chr1:236706917:G:A 954_607_203_V->I 0.000199681 398 chr1:236706923:G:A 954_613_205_G->R 0.000199681 398 chr1:236706948:G:C 954_638_213_S->T 0.000199681 398 chr1:236708088:T:C 954_677_226_I->T 0.000399361 398 chr1:236708121:A:C 954_710_237_K->T 0.000199681 398 chr1:236708172:G:A 954_761_254_R->K 0.000199681 398 chr1:236711344:G:T 954_837_279_K->N 0.000599042 398 chr1:236711372:G:C 954_865_289_E->Q 0.000199681 398 na12878 Variants: 398 chr1:236700807:T:A 954_56_19_F->Y 398 chr1:236700857:C:T 954_106_36_R->C 398 chr1:236706862:G:C 954_552_184_R->S 398 snyder Variants: 398 chr1:236700807:T:A 954_56_19_F->Y 398 chr1:236700857:C:T 954_106_36_R->C 398 chr1:236706862:G:C 954_552_184_R->S 399 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000450372 gene_Name: LEG8_HUMAN 399 list of pdbs: 399 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 399 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 399 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 399 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 399 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 399 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 399 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 399 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 399 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 399 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 399 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 399 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 399 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 399 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 399 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 399 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 399 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 399 Zimmer Variants: 399 chr1:236700807:T:A 1080_56_19_F->Y 399 chr1:236700857:C:T 1080_106_36_R->C 399 chr1:236706862:G:C 1080_678_226_R->S 399 HGMD Variants: 399 chr1:236700807:T:A 1080_56_19_F->Y 399 oneKG Variants: 399 chr1:236702219:C:T 1080_175_59_R->* 0.000399361 399 chr1:236706300:T:A 1080_635_212_L->* 0.13119 399 chr1:236706905:C:T 1080_721_241_R->* 0.000199681 399 chr1:236700807:T:A 1080_56_19_F->Y 0.4998 399 chr1:236700809:G:C 1080_58_20_V->L 0.00139776 399 chr1:236700857:C:T 1080_106_36_R->C 0.5 399 chr1:236700878:G:A 1080_127_43_A->T 0.000199681 399 chr1:236702210:A:G 1080_166_56_M->V 0.369609 399 chr1:236702246:C:T 1080_202_68_P->S 0.000199681 399 chr1:236702249:C:T 1080_205_69_R->C 0.000199681 399 chr1:236702360:G:T 1080_316_106_V->L 0.000199681 399 chr1:236703922:T:C 1080_404_135_I->T 0.000199681 399 chr1:236703982:C:T 1080_464_155_S->L 0.000199681 399 chr1:236704978:A:G 1080_490_164_S->G 0.000199681 399 chr1:236704987:C:G 1080_499_167_L->V 0.000199681 399 chr1:236706086:T:C 1080_548_183_L->P 0.000199681 399 chr1:236706234:A:G 1080_569_190_D->G 0.0273562 399 chr1:236706272:A:G 1080_607_203_S->G 0.000399361 399 chr1:236706278:G:T 1080_613_205_D->Y 0.13119 399 chr1:236706862:G:C 1080_678_226_R->S 0.322284 399 chr1:236706917:G:A 1080_733_245_V->I 0.000199681 399 chr1:236706923:G:A 1080_739_247_G->R 0.000199681 399 chr1:236706948:G:C 1080_764_255_S->T 0.000199681 399 chr1:236708088:T:C 1080_803_268_I->T 0.000399361 399 chr1:236708121:A:C 1080_836_279_K->T 0.000199681 399 chr1:236708172:G:A 1080_887_296_R->K 0.000199681 399 chr1:236711344:G:T 1080_963_321_K->N 0.000599042 399 chr1:236711372:G:C 1080_991_331_E->Q 0.000199681 399 na12878 Variants: 399 chr1:236700807:T:A 1080_56_19_F->Y 399 chr1:236700857:C:T 1080_106_36_R->C 399 chr1:236706862:G:C 1080_678_226_R->S 399 snyder Variants: 399 chr1:236700807:T:A 1080_56_19_F->Y 399 chr1:236700857:C:T 1080_106_36_R->C 399 chr1:236706862:G:C 1080_678_226_R->S 400 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000366584 gene_Name: LEG8_HUMAN 400 list of pdbs: 400 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 400 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 400 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 400 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 400 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 400 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 400 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 400 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 400 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 400 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 400 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 400 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 400 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 400 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 400 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 400 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 400 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 400 Zimmer Variants: 400 chr1:236700807:T:A 954_56_19_F->Y 400 chr1:236700857:C:T 954_106_36_R->C 400 chr1:236706862:G:C 954_552_184_R->S 400 HGMD Variants: 400 chr1:236700807:T:A 954_56_19_F->Y 400 oneKG Variants: 400 chr1:236702219:C:T 954_175_59_R->* 0.000399361 400 chr1:236706905:C:T 954_595_199_R->* 0.000199681 400 chr1:236700807:T:A 954_56_19_F->Y 0.4998 400 chr1:236700809:G:C 954_58_20_V->L 0.00139776 400 chr1:236700857:C:T 954_106_36_R->C 0.5 400 chr1:236700878:G:A 954_127_43_A->T 0.000199681 400 chr1:236702210:A:G 954_166_56_M->V 0.369609 400 chr1:236702246:C:T 954_202_68_P->S 0.000199681 400 chr1:236702249:C:T 954_205_69_R->C 0.000199681 400 chr1:236702360:G:T 954_316_106_V->L 0.000199681 400 chr1:236703922:T:C 954_404_135_I->T 0.000199681 400 chr1:236703982:C:T 954_464_155_S->L 0.000199681 400 chr1:236704978:A:G 954_490_164_S->G 0.000199681 400 chr1:236704987:C:G 954_499_167_L->V 0.000199681 400 chr1:236706086:T:C 954_548_183_L->P 0.000199681 400 chr1:236706862:G:C 954_552_184_R->S 0.322284 400 chr1:236706917:G:A 954_607_203_V->I 0.000199681 400 chr1:236706923:G:A 954_613_205_G->R 0.000199681 400 chr1:236706948:G:C 954_638_213_S->T 0.000199681 400 chr1:236708088:T:C 954_677_226_I->T 0.000399361 400 chr1:236708121:A:C 954_710_237_K->T 0.000199681 400 chr1:236708172:G:A 954_761_254_R->K 0.000199681 400 chr1:236711344:G:T 954_837_279_K->N 0.000599042 400 chr1:236711372:G:C 954_865_289_E->Q 0.000199681 400 na12878 Variants: 400 chr1:236700807:T:A 954_56_19_F->Y 400 chr1:236700857:C:T 954_106_36_R->C 400 chr1:236706862:G:C 954_552_184_R->S 400 snyder Variants: 400 chr1:236700807:T:A 954_56_19_F->Y 400 chr1:236700857:C:T 954_106_36_R->C 400 chr1:236706862:G:C 954_552_184_R->S 401 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116977_ENST00000526634 gene_Name: LEG8_HUMAN 401 list of pdbs: 401 4FQZ pdb_description: 11-Jul-12 X-ray 2.800 Crystal structure of a protease-resistant mutant form of hum galectin-8 401 3VKO pdb_description: 12-Sep-12 X-ray 2.080 Galectin-8 n-terminal domain in complex with sialyllactosami 401 3VKN pdb_description: 12-Sep-12 X-ray 1.980 Galectin-8 n-terminal domain in free form 401 3VKM pdb_description: 12-Sep-12 X-ray 2.980 Protease-resistant mutant form of human galectin-8 in comple sialyllactose and lactose 401 3VKL pdb_description: 12-Sep-12 X-ray 2.550 Protease-resistant mutant form of human galectin-8 in comple lactose molecules 401 3OJB pdb_description: 07-Sep-11 X-ray 3.010 Crystal structure of c-terminal domain of human galectin-8 401 3APB pdb_description: 26-Jan-11 X-ray 1.950 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with iodide 401 3AP9 pdb_description: 02-Feb-11 X-ray 1.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lacto-n-fucopentaose iii 401 3AP7 pdb_description: 26-Jan-11 X-ray 1.530 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose sialic acid 401 3AP6 pdb_description: 26-Jan-11 X-ray 1.580 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 3'-sulfate 401 3AP5 pdb_description: 26-Jan-11 X-ray 1.920 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain 401 3AP4 pdb_description: 26-Jan-11 X-ray 2.330 Crystal structure of the galectin-8 n-terminal carbohydrate recognition domain in complex with lactose 401 2YXS pdb_description: 06-May-08 X-ray 2.130 Crystal sturcture of n-terminal domain of human galectin-8 w lactose 401 2YV8 pdb_description: 15-Apr-08 X-ray 1.920 Crystal structure of n-terminal domain of human galectin-8 401 2YRO pdb_description: 12-Feb-08 NMR 20 Solution structure of thE C-terminal gal-bind lectin protein from human galectin-8 401 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 401 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 401 Zimmer Variants: 401 chr1:236700807:T:A 954_56_19_F->Y 401 chr1:236700857:C:T 954_106_36_R->C 401 chr1:236706862:G:C 954_552_184_R->S 401 HGMD Variants: 401 chr1:236700807:T:A 954_56_19_F->Y 401 oneKG Variants: 401 chr1:236702219:C:T 954_175_59_R->* 0.000399361 401 chr1:236706905:C:T 954_595_199_R->* 0.000199681 401 chr1:236700807:T:A 954_56_19_F->Y 0.4998 401 chr1:236700809:G:C 954_58_20_V->L 0.00139776 401 chr1:236700857:C:T 954_106_36_R->C 0.5 401 chr1:236700878:G:A 954_127_43_A->T 0.000199681 401 chr1:236702210:A:G 954_166_56_M->V 0.369609 401 chr1:236702246:C:T 954_202_68_P->S 0.000199681 401 chr1:236702249:C:T 954_205_69_R->C 0.000199681 401 chr1:236702360:G:T 954_316_106_V->L 0.000199681 401 chr1:236703922:T:C 954_404_135_I->T 0.000199681 401 chr1:236703982:C:T 954_464_155_S->L 0.000199681 401 chr1:236704978:A:G 954_490_164_S->G 0.000199681 401 chr1:236704987:C:G 954_499_167_L->V 0.000199681 401 chr1:236706086:T:C 954_548_183_L->P 0.000199681 401 chr1:236706862:G:C 954_552_184_R->S 0.322284 401 chr1:236706917:G:A 954_607_203_V->I 0.000199681 401 chr1:236706923:G:A 954_613_205_G->R 0.000199681 401 chr1:236706948:G:C 954_638_213_S->T 0.000199681 401 chr1:236708088:T:C 954_677_226_I->T 0.000399361 401 chr1:236708121:A:C 954_710_237_K->T 0.000199681 401 chr1:236708172:G:A 954_761_254_R->K 0.000199681 401 chr1:236711344:G:T 954_837_279_K->N 0.000599042 401 chr1:236711372:G:C 954_865_289_E->Q 0.000199681 401 na12878 Variants: 401 chr1:236700807:T:A 954_56_19_F->Y 401 chr1:236700857:C:T 954_106_36_R->C 401 chr1:236706862:G:C 954_552_184_R->S 401 snyder Variants: 401 chr1:236700807:T:A 954_56_19_F->Y 401 chr1:236700857:C:T 954_106_36_R->C 401 chr1:236706862:G:C 954_552_184_R->S 402 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000117318_ENST00000374561 gene_Name: ID3_HUMAN 402 list of pdbs: 402 2LFH pdb_description: 27-Jul-11 NMR 20 Solution nmr structure of the helix-loop-helix domain of hum protein, northeast structural genomics consortium target hr 402 Zimmer Variants: 402 chr1:23885498:T:C 360_313_105_T->A;HUB=PPI®GENE=ID3;CDSS=2;DBRECUR=ID3 402 HGMD Variants: 402 chr1:23885498:T:C 360_313_105_T->A 402 oneKG Variants: 402 chr1:23885480:A:C 360_331_111_S->A 0.0483227 402 chr1:23885485:A:G 360_326_109_V->A 0.000199681 402 chr1:23885489:G:A 360_322_108_L->F 0.000199681 402 chr1:23885498:T:C 360_313_105_T->A 0.109625 402 chr1:23885626:G:A 360_292_98_P->S 0.000199681 402 chr1:23885662:C:G 360_256_86_E->Q 0.00998403 402 chr1:23885674:C:T 360_244_82_V->I 0.000199681 402 chr1:23885773:A:T 360_145_49_S->T 0.000199681 402 chr1:23885835:C:T 360_83_28_R->Q 0.00459265 402 chr1:23885845:C:A 360_73_25_A->S 0.000199681 402 chr1:23885853:A:G 360_65_22_L->P 0.000199681 402 chr1:23885859:C:T 360_59_20_R->H 0.000199681 402 chr1:23885893:C:T 360_25_9_G->S 0.000199681 402 chr1:23885908:G:C 360_10_4_L->V 0.000599042 402 na12878 Variants: 402 chr1:23885498:T:C 360_313_105_T->A 402 snyder Variants: 402 chr1:23885498:T:C 360_313_105_T->A 403 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000188822_ENST00000374472 gene_Name: CNR2_HUMAN 403 list of pdbs: 403 2KI9 pdb_description: 12-May-09 NMR 15 Human cannabinoid receptor-2 helix 6 403 Zimmer Variants: 403 chr1:24201920:T:C 1083_188_63_Q->R 403 HGMD Variants: 403 chr1:24201162:G:A 1083_946_316_H->Y 403 chr1:24201711:G:T 1083_397_133_L->I 403 chr1:24201920:T:C 1083_188_63_Q->R 403 oneKG Variants: 403 chr1:24201717:G:A 1083_391_131_R->* 0.000199681 403 chr1:24201053:G:C 1083_1055_352_S->C 0.000199681 403 chr1:24201065:G:A 1083_1043_348_P->L 0.000199681 403 chr1:24201075:T:C 1083_1033_345_K->E 0.000199681 403 chr1:24201093:C:T 1083_1015_339_E->K 0.000199681 403 chr1:24201126:C:T 1083_982_328_A->T 0.000199681 403 chr1:24201162:G:A 1083_946_316_H->Y 0.107428 403 chr1:24201170:C:T 1083_938_313_C->Y 0.000199681 403 chr1:24201188:C:T 1083_920_307_R->H 0.000399361 403 chr1:24201293:G:A 1083_815_272_T->M 0.000599042 403 chr1:24201516:T:C 1083_592_198_I->V 0.000199681 403 chr1:24201668:C:T 1083_440_147_R->H 0.000199681 403 chr1:24201711:G:T 1083_397_133_L->I 0.00259585 403 chr1:24201779:A:G 1083_329_110_I->T 0.000599042 403 chr1:24201839:C:T 1083_269_90_S->N 0.000199681 403 chr1:24201858:T:A 1083_250_84_S->C 0.000399361 403 chr1:24201911:C:T 1083_197_66_R->Q 0.0109824 403 chr1:24201914:C:T 1083_194_65_R->H 0.000199681 403 chr1:24201915:G:A 1083_193_65_R->C 0.000199681 403 chr1:24201920:T:C 1083_188_63_Q->R 0.346645 403 chr1:24202065:C:A 1083_43_15_D->Y 0.000199681 403 na12878 Variants: 403 chr1:24201920:T:C 1083_188_63_Q->R 403 snyder Variants: 403 chr1:24201920:T:C 1083_188_63_Q->R 404 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000188822_ENST00000536471 gene_Name: CNR2_HUMAN 404 list of pdbs: 404 2KI9 pdb_description: 12-May-09 NMR 15 Human cannabinoid receptor-2 helix 6 404 Zimmer Variants: 404 chr1:24201920:T:C 1083_188_63_Q->R;GENE=CNR2;CDSS=2 404 HGMD Variants: 404 chr1:24201162:G:A 1083_946_316_H->Y 404 chr1:24201711:G:T 1083_397_133_L->I 404 chr1:24201920:T:C 1083_188_63_Q->R 404 oneKG Variants: 404 chr1:24201717:G:A 1083_391_131_R->* 0.000199681 404 chr1:24201053:G:C 1083_1055_352_S->C 0.000199681 404 chr1:24201065:G:A 1083_1043_348_P->L 0.000199681 404 chr1:24201075:T:C 1083_1033_345_K->E 0.000199681 404 chr1:24201093:C:T 1083_1015_339_E->K 0.000199681 404 chr1:24201126:C:T 1083_982_328_A->T 0.000199681 404 chr1:24201162:G:A 1083_946_316_H->Y 0.107428 404 chr1:24201170:C:T 1083_938_313_C->Y 0.000199681 404 chr1:24201188:C:T 1083_920_307_R->H 0.000399361 404 chr1:24201293:G:A 1083_815_272_T->M 0.000599042 404 chr1:24201516:T:C 1083_592_198_I->V 0.000199681 404 chr1:24201668:C:T 1083_440_147_R->H 0.000199681 404 chr1:24201711:G:T 1083_397_133_L->I 0.00259585 404 chr1:24201779:A:G 1083_329_110_I->T 0.000599042 404 chr1:24201839:C:T 1083_269_90_S->N 0.000199681 404 chr1:24201858:T:A 1083_250_84_S->C 0.000399361 404 chr1:24201911:C:T 1083_197_66_R->Q 0.0109824 404 chr1:24201914:C:T 1083_194_65_R->H 0.000199681 404 chr1:24201915:G:A 1083_193_65_R->C 0.000199681 404 chr1:24201920:T:C 1083_188_63_Q->R 0.346645 404 chr1:24202065:C:A 1083_43_15_D->Y 0.000199681 404 na12878 Variants: 404 chr1:24201920:T:C 1083_188_63_Q->R 404 snyder Variants: 404 chr1:24201920:T:C 1083_188_63_Q->R 405 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000372104 gene_Name: MUTYH_HUMAN 405 list of pdbs: 405 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 405 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 405 Zimmer Variants: 405 chr1:45800156:C:T 1566_22_8_V->M 405 HGMD Variants: 405 chr1:45796892:C:A 1566_1354_452_E->* 405 chr1:45796895:C:A 1566_1351_451_E->* 405 chr1:45797169:G:A 1566_1162_388_Q->* 405 chr1:45797348:G:A 1566_1087_363_Q->* 405 chr1:45797507:G:A 1566_928_310_Q->* 405 chr1:45797752:G:A 1566_856_286_Q->* 405 chr1:45797972:G:A 1566_715_239_Q->* 405 chr1:45798112:G:A 1566_655_219_R->* 405 chr1:45798308:G:A 1566_544_182_Q->* 405 chr1:45798350:C:A 1566_502_168_E->* 405 chr1:45798490:C:T 1566_437_146_W->* 405 chr1:45798627:C:T 1566_383_128_W->* 405 chr1:45798838:C:T 1566_309_103_W->* 405 chr1:45798961:A:T 1566_300_100_Y->* 405 chr1:45799121:G:T 1566_228_76_Y->* 405 chr1:45799124:C:T 1566_225_75_W->* 405 chr1:45799144:G:A 1566_205_69_R->* 405 chr1:45800165:G:A 1566_13_5_R->* 405 chr1:45796212:C:G 1566_1410_470_Q->H 405 chr1:45796229:C:A 1566_1393_465_V->F 405 chr1:45796865:C:T 1566_1381_461_A->T 405 chr1:45796912:G:T 1566_1334_445_A->D 405 chr1:45796913:C:T 1566_1333_445_A->T 405 chr1:45796969:T:G 1566_1277_426_Q->P 405 chr1:45796988:G:C 1566_1258_420_H->D 405 chr1:45797139:G:A 1566_1192_398_R->C 405 chr1:45797157:G:T 1566_1174_392_L->M 405 chr1:45797201:G:A 1566_1130_377_P->L 405 chr1:45797210:C:A 1566_1121_374_W->L 405 chr1:45797228:C:T 1566_1103_368_G->D 405 chr1:45797356:A:G 1566_1079_360_L->P 405 chr1:45797381:G:T 1566_1054_352_P->T 405 chr1:45797401:G:A 1566_1034_345_A->V 405 chr1:45797505:C:G 1566_930_310_Q->H 405 chr1:45797506:T:C 1566_929_310_Q->R 405 chr1:45797519:G:C 1566_916_306_P->A 405 chr1:45797846:G:A 1566_841_281_R->C 405 chr1:45797887:G:A 1566_800_267_P->L 405 chr1:45797914:C:T 1566_773_258_G->E 405 chr1:45797924:T:C 1566_763_255_M->V 405 chr1:45797950:C:T 1566_737_246_R->Q 405 chr1:45797951:G:A 1566_736_246_R->W 405 chr1:45798102:C:T 1566_665_222_G->D 405 chr1:45798111:C:T 1566_656_219_R->Q 405 chr1:45798115:C:A 1566_652_218_V->F 405 chr1:45798117:C:T 1566_650_217_R->H 405 chr1:45798117:C:A 1566_650_217_R->L 405 chr1:45798118:G:A 1566_649_217_R->C 405 chr1:45798120:C:T 1566_647_216_C->Y 405 chr1:45798123:A:G 1566_644_215_L->P 405 chr1:45798129:C:T 1566_638_213_R->Q 405 chr1:45798130:G:A 1566_637_213_R->W 405 chr1:45798138:T:C 1566_629_210_N->S 405 chr1:45798151:C:T 1566_616_206_V->M 405 chr1:45798269:T:C 1566_583_195_I->V 405 chr1:45798281:T:C 1566_571_191_T->A 405 chr1:45798289:C:T 1566_563_188_G->E 405 chr1:45798293:C:T 1566_559_187_V->M 405 chr1:45798445:C:T 1566_482_161_G->E 405 chr1:45798457:C:T 1566_470_157_R->Q 405 chr1:45798458:G:A 1566_469_157_R->W 405 chr1:45798460:C:T 1566_467_156_R->Q 405 chr1:45798466:C:T 1566_461_154_R->H 405 chr1:45798467:G:C 1566_460_154_R->G 405 chr1:45798467:G:A 1566_460_154_R->C 405 chr1:45798472:T:G 1566_455_152_Y->S 405 chr1:45798475:T:C 1566_452_151_Y->C 405 chr1:45798624:G:A 1566_386_129_P->L 405 chr1:45798840:A:T 1566_307_103_W->R 405 chr1:45798963:A:G 1566_298_100_Y->H 405 chr1:45799102:G:C 1566_247_83_L->V 405 chr1:45799107:C:T 1566_242_81_R->Q 405 chr1:45799108:G:A 1566_241_81_R->W 405 chr1:45799120:C:T 1566_229_77_D->N 405 chr1:45799192:C:A 1566_157_53_V->F 405 chr1:45800146:C:T 1566_32_11_G->D 405 chr1:45800165:G:C 1566_13_5_R->G 405 chr1:45800167:G:A 1566_11_4_P->L 405 chr1:45800177:T:C 1566_1_1_M->V 405 oneKG Variants: 405 chr1:45795049:G:A 1566_1495_499_Q->* 0.000199681 405 chr1:45796892:C:A 1566_1354_452_E->* 0.00179712 405 chr1:45795013:T:C 1566_1531_511_T->A 0.000199681 405 chr1:45795027:C:T 1566_1517_506_R->Q 0.0133786 405 chr1:45795040:C:A 1566_1504_502_D->Y 0.000199681 405 chr1:45795043:G:T 1566_1501_501_L->M 0.00199681 405 chr1:45795072:C:T 1566_1472_491_R->Q 0.000199681 405 chr1:45795084:G:A 1566_1460_487_S->F 0.00459265 405 chr1:45795103:T:G 1566_1441_481_K->Q 0.000199681 405 chr1:45796198:C:T 1566_1424_475_G->E 0.000599042 405 chr1:45796226:A:G 1566_1396_466_F->L 0.000199681 405 chr1:45796913:C:T 1566_1333_445_A->T 0.000399361 405 chr1:45797157:G:T 1566_1174_392_L->M 0.000199681 405 chr1:45797198:G:T 1566_1133_378_S->Y 0.000199681 405 chr1:45797201:G:A 1566_1130_377_P->L 0.000199681 405 chr1:45797228:C:T 1566_1103_368_G->D 0.00239617 405 chr1:45797401:G:A 1566_1034_345_A->V 0.00139776 405 chr1:45797505:C:G 1566_930_310_Q->H 0.313498 405 chr1:45797707:C:T 1566_901_301_V->M 0.000599042 405 chr1:45797721:G:A 1566_887_296_S->L 0.000199681 405 chr1:45797839:C:T 1566_848_283_R->K 0.000199681 405 chr1:45797851:C:T 1566_836_279_R->Q 0.000199681 405 chr1:45798093:G:C 1566_674_225_P->R 0.000199681 405 chr1:45798118:G:A 1566_649_217_R->C 0.000199681 405 chr1:45798153:C:A 1566_614_205_G->V 0.000199681 405 chr1:45798260:T:C 1566_592_198_I->V 0.000199681 405 chr1:45798328:C:G 1566_524_175_R->P 0.000199681 405 chr1:45798457:C:T 1566_470_157_R->Q 0.000199681 405 chr1:45798475:T:C 1566_452_151_Y->C 0.000199681 405 chr1:45798601:C:T 1566_409_137_A->T 0.000199681 405 chr1:45798613:C:G 1566_397_133_D->H 0.000399361 405 chr1:45799179:T:C 1566_170_57_H->R 0.000199681 405 chr1:45800095:T:C 1566_83_28_N->S 0.000399361 405 chr1:45800146:C:T 1566_32_11_G->D 0.00179712 405 chr1:45800156:C:T 1566_22_8_V->M 0.0203674 405 chr1:45800167:G:A 1566_11_4_P->L 0.00179712 405 chr1:45800176:A:G 1566_2_1_M->T 0.000199681 405 na12878 Variants: 405 chr1:45797505:C:G 1566_930_310_Q->H 405 snyder Variants: 405 chr1:45797505:C:G 1566_930_310_Q->H 406 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000448481 gene_Name: MUTYH_HUMAN 406 list of pdbs: 406 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 406 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 406 Zimmer Variants: 406 chr1:45800156:C:T 1599_22_8_V->M 406 HGMD Variants: 406 chr1:45796892:C:A 1599_1387_463_E->* 406 chr1:45796895:C:A 1599_1384_462_E->* 406 chr1:45797169:G:A 1599_1195_399_Q->* 406 chr1:45797348:G:A 1599_1120_374_Q->* 406 chr1:45797507:G:A 1599_961_321_Q->* 406 chr1:45797752:G:A 1599_889_297_Q->* 406 chr1:45797972:G:A 1599_748_250_Q->* 406 chr1:45798112:G:A 1599_688_230_R->* 406 chr1:45798308:G:A 1599_577_193_Q->* 406 chr1:45798350:C:A 1599_535_179_E->* 406 chr1:45798490:C:T 1599_470_157_W->* 406 chr1:45798627:C:T 1599_416_139_W->* 406 chr1:45798838:C:T 1599_342_114_W->* 406 chr1:45798961:A:T 1599_333_111_Y->* 406 chr1:45799121:G:T 1599_261_87_Y->* 406 chr1:45799124:C:T 1599_258_86_W->* 406 chr1:45799144:G:A 1599_238_80_R->* 406 chr1:45800165:G:A 1599_13_5_R->* 406 chr1:45796212:C:G 1599_1443_481_Q->H 406 chr1:45796229:C:A 1599_1426_476_V->F 406 chr1:45796865:C:T 1599_1414_472_A->T 406 chr1:45796912:G:T 1599_1367_456_A->D 406 chr1:45796913:C:T 1599_1366_456_A->T 406 chr1:45796969:T:G 1599_1310_437_Q->P 406 chr1:45796988:G:C 1599_1291_431_H->D 406 chr1:45797139:G:A 1599_1225_409_R->C 406 chr1:45797157:G:T 1599_1207_403_L->M 406 chr1:45797201:G:A 1599_1163_388_P->L 406 chr1:45797210:C:A 1599_1154_385_W->L 406 chr1:45797228:C:T 1599_1136_379_G->D 406 chr1:45797356:A:G 1599_1112_371_L->P 406 chr1:45797381:G:T 1599_1087_363_P->T 406 chr1:45797401:G:A 1599_1067_356_A->V 406 chr1:45797505:C:G 1599_963_321_Q->H 406 chr1:45797506:T:C 1599_962_321_Q->R 406 chr1:45797519:G:C 1599_949_317_P->A 406 chr1:45797846:G:A 1599_874_292_R->C 406 chr1:45797887:G:A 1599_833_278_P->L 406 chr1:45797914:C:T 1599_806_269_G->E 406 chr1:45797924:T:C 1599_796_266_M->V 406 chr1:45797950:C:T 1599_770_257_R->Q 406 chr1:45797951:G:A 1599_769_257_R->W 406 chr1:45798102:C:T 1599_698_233_G->D 406 chr1:45798111:C:T 1599_689_230_R->Q 406 chr1:45798115:C:A 1599_685_229_V->F 406 chr1:45798117:C:T 1599_683_228_R->H 406 chr1:45798117:C:A 1599_683_228_R->L 406 chr1:45798118:G:A 1599_682_228_R->C 406 chr1:45798120:C:T 1599_680_227_C->Y 406 chr1:45798123:A:G 1599_677_226_L->P 406 chr1:45798129:C:T 1599_671_224_R->Q 406 chr1:45798130:G:A 1599_670_224_R->W 406 chr1:45798138:T:C 1599_662_221_N->S 406 chr1:45798151:C:T 1599_649_217_V->M 406 chr1:45798269:T:C 1599_616_206_I->V 406 chr1:45798281:T:C 1599_604_202_T->A 406 chr1:45798289:C:T 1599_596_199_G->E 406 chr1:45798293:C:T 1599_592_198_V->M 406 chr1:45798445:C:T 1599_515_172_G->E 406 chr1:45798457:C:T 1599_503_168_R->Q 406 chr1:45798458:G:A 1599_502_168_R->W 406 chr1:45798460:C:T 1599_500_167_R->Q 406 chr1:45798466:C:T 1599_494_165_R->H 406 chr1:45798467:G:C 1599_493_165_R->G 406 chr1:45798467:G:A 1599_493_165_R->C 406 chr1:45798472:T:G 1599_488_163_Y->S 406 chr1:45798475:T:C 1599_485_162_Y->C 406 chr1:45798624:G:A 1599_419_140_P->L 406 chr1:45798840:A:T 1599_340_114_W->R 406 chr1:45798963:A:G 1599_331_111_Y->H 406 chr1:45799102:G:C 1599_280_94_L->V 406 chr1:45799107:C:T 1599_275_92_R->Q 406 chr1:45799108:G:A 1599_274_92_R->W 406 chr1:45799120:C:T 1599_262_88_D->N 406 chr1:45799192:C:A 1599_190_64_V->F 406 chr1:45800146:C:T 1599_32_11_G->D 406 chr1:45800165:G:C 1599_13_5_R->G 406 chr1:45800167:G:A 1599_11_4_P->L 406 chr1:45800177:T:C 1599_1_1_M->V 406 oneKG Variants: 406 chr1:45795049:G:A 1599_1528_510_Q->* 0.000199681 406 chr1:45796892:C:A 1599_1387_463_E->* 0.00179712 406 chr1:45795013:T:C 1599_1564_522_T->A 0.000199681 406 chr1:45795027:C:T 1599_1550_517_R->Q 0.0133786 406 chr1:45795040:C:A 1599_1537_513_D->Y 0.000199681 406 chr1:45795043:G:T 1599_1534_512_L->M 0.00199681 406 chr1:45795072:C:T 1599_1505_502_R->Q 0.000199681 406 chr1:45795084:G:A 1599_1493_498_S->F 0.00459265 406 chr1:45795103:T:G 1599_1474_492_K->Q 0.000199681 406 chr1:45796198:C:T 1599_1457_486_G->E 0.000599042 406 chr1:45796226:A:G 1599_1429_477_F->L 0.000199681 406 chr1:45796913:C:T 1599_1366_456_A->T 0.000399361 406 chr1:45797157:G:T 1599_1207_403_L->M 0.000199681 406 chr1:45797198:G:T 1599_1166_389_S->Y 0.000199681 406 chr1:45797201:G:A 1599_1163_388_P->L 0.000199681 406 chr1:45797228:C:T 1599_1136_379_G->D 0.00239617 406 chr1:45797401:G:A 1599_1067_356_A->V 0.00139776 406 chr1:45797505:C:G 1599_963_321_Q->H 0.313498 406 chr1:45797707:C:T 1599_934_312_V->M 0.000599042 406 chr1:45797721:G:A 1599_920_307_S->L 0.000199681 406 chr1:45797839:C:T 1599_881_294_R->K 0.000199681 406 chr1:45797851:C:T 1599_869_290_R->Q 0.000199681 406 chr1:45798093:G:C 1599_707_236_P->R 0.000199681 406 chr1:45798118:G:A 1599_682_228_R->C 0.000199681 406 chr1:45798153:C:A 1599_647_216_G->V 0.000199681 406 chr1:45798260:T:C 1599_625_209_I->V 0.000199681 406 chr1:45798328:C:G 1599_557_186_R->P 0.000199681 406 chr1:45798457:C:T 1599_503_168_R->Q 0.000199681 406 chr1:45798475:T:C 1599_485_162_Y->C 0.000199681 406 chr1:45798601:C:T 1599_442_148_A->T 0.000199681 406 chr1:45798613:C:G 1599_430_144_D->H 0.000399361 406 chr1:45799179:T:C 1599_203_68_H->R 0.000199681 406 chr1:45799246:C:T 1599_136_46_G->R 0.000199681 406 chr1:45800095:T:C 1599_83_28_N->S 0.000399361 406 chr1:45800146:C:T 1599_32_11_G->D 0.00179712 406 chr1:45800156:C:T 1599_22_8_V->M 0.0203674 406 chr1:45800167:G:A 1599_11_4_P->L 0.00179712 406 chr1:45800176:A:G 1599_2_1_M->T 0.000199681 406 na12878 Variants: 406 chr1:45797505:C:G 1599_963_321_Q->H 406 snyder Variants: 406 chr1:45797505:C:G 1599_963_321_Q->H 407 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000456914 gene_Name: MUTYH_HUMAN 407 list of pdbs: 407 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 407 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 407 Zimmer Variants: 407 chr1:45800156:C:T 1566_22_8_V->M 407 HGMD Variants: 407 chr1:45796892:C:A 1566_1354_452_E->* 407 chr1:45796895:C:A 1566_1351_451_E->* 407 chr1:45797169:G:A 1566_1162_388_Q->* 407 chr1:45797348:G:A 1566_1087_363_Q->* 407 chr1:45797507:G:A 1566_928_310_Q->* 407 chr1:45797752:G:A 1566_856_286_Q->* 407 chr1:45797972:G:A 1566_715_239_Q->* 407 chr1:45798112:G:A 1566_655_219_R->* 407 chr1:45798308:G:A 1566_544_182_Q->* 407 chr1:45798350:C:A 1566_502_168_E->* 407 chr1:45798490:C:T 1566_437_146_W->* 407 chr1:45798627:C:T 1566_383_128_W->* 407 chr1:45798838:C:T 1566_309_103_W->* 407 chr1:45798961:A:T 1566_300_100_Y->* 407 chr1:45799121:G:T 1566_228_76_Y->* 407 chr1:45799124:C:T 1566_225_75_W->* 407 chr1:45799144:G:A 1566_205_69_R->* 407 chr1:45800165:G:A 1566_13_5_R->* 407 chr1:45796212:C:G 1566_1410_470_Q->H 407 chr1:45796229:C:A 1566_1393_465_V->F 407 chr1:45796865:C:T 1566_1381_461_A->T 407 chr1:45796912:G:T 1566_1334_445_A->D 407 chr1:45796913:C:T 1566_1333_445_A->T 407 chr1:45796969:T:G 1566_1277_426_Q->P 407 chr1:45796988:G:C 1566_1258_420_H->D 407 chr1:45797139:G:A 1566_1192_398_R->C 407 chr1:45797157:G:T 1566_1174_392_L->M 407 chr1:45797201:G:A 1566_1130_377_P->L 407 chr1:45797210:C:A 1566_1121_374_W->L 407 chr1:45797228:C:T 1566_1103_368_G->D 407 chr1:45797356:A:G 1566_1079_360_L->P 407 chr1:45797381:G:T 1566_1054_352_P->T 407 chr1:45797401:G:A 1566_1034_345_A->V 407 chr1:45797505:C:G 1566_930_310_Q->H 407 chr1:45797506:T:C 1566_929_310_Q->R 407 chr1:45797519:G:C 1566_916_306_P->A 407 chr1:45797846:G:A 1566_841_281_R->C 407 chr1:45797887:G:A 1566_800_267_P->L 407 chr1:45797914:C:T 1566_773_258_G->E 407 chr1:45797924:T:C 1566_763_255_M->V 407 chr1:45797950:C:T 1566_737_246_R->Q 407 chr1:45797951:G:A 1566_736_246_R->W 407 chr1:45798102:C:T 1566_665_222_G->D 407 chr1:45798111:C:T 1566_656_219_R->Q 407 chr1:45798115:C:A 1566_652_218_V->F 407 chr1:45798117:C:T 1566_650_217_R->H 407 chr1:45798117:C:A 1566_650_217_R->L 407 chr1:45798118:G:A 1566_649_217_R->C 407 chr1:45798120:C:T 1566_647_216_C->Y 407 chr1:45798123:A:G 1566_644_215_L->P 407 chr1:45798129:C:T 1566_638_213_R->Q 407 chr1:45798130:G:A 1566_637_213_R->W 407 chr1:45798138:T:C 1566_629_210_N->S 407 chr1:45798151:C:T 1566_616_206_V->M 407 chr1:45798269:T:C 1566_583_195_I->V 407 chr1:45798281:T:C 1566_571_191_T->A 407 chr1:45798289:C:T 1566_563_188_G->E 407 chr1:45798293:C:T 1566_559_187_V->M 407 chr1:45798445:C:T 1566_482_161_G->E 407 chr1:45798457:C:T 1566_470_157_R->Q 407 chr1:45798458:G:A 1566_469_157_R->W 407 chr1:45798460:C:T 1566_467_156_R->Q 407 chr1:45798466:C:T 1566_461_154_R->H 407 chr1:45798467:G:C 1566_460_154_R->G 407 chr1:45798467:G:A 1566_460_154_R->C 407 chr1:45798472:T:G 1566_455_152_Y->S 407 chr1:45798475:T:C 1566_452_151_Y->C 407 chr1:45798624:G:A 1566_386_129_P->L 407 chr1:45798840:A:T 1566_307_103_W->R 407 chr1:45798963:A:G 1566_298_100_Y->H 407 chr1:45799102:G:C 1566_247_83_L->V 407 chr1:45799107:C:T 1566_242_81_R->Q 407 chr1:45799108:G:A 1566_241_81_R->W 407 chr1:45799120:C:T 1566_229_77_D->N 407 chr1:45799192:C:A 1566_157_53_V->F 407 chr1:45800146:C:T 1566_32_11_G->D 407 chr1:45800165:G:C 1566_13_5_R->G 407 chr1:45800167:G:A 1566_11_4_P->L 407 chr1:45800177:T:C 1566_1_1_M->V 407 oneKG Variants: 407 chr1:45795049:G:A 1566_1495_499_Q->* 0.000199681 407 chr1:45796892:C:A 1566_1354_452_E->* 0.00179712 407 chr1:45795013:T:C 1566_1531_511_T->A 0.000199681 407 chr1:45795027:C:T 1566_1517_506_R->Q 0.0133786 407 chr1:45795040:C:A 1566_1504_502_D->Y 0.000199681 407 chr1:45795043:G:T 1566_1501_501_L->M 0.00199681 407 chr1:45795072:C:T 1566_1472_491_R->Q 0.000199681 407 chr1:45795084:G:A 1566_1460_487_S->F 0.00459265 407 chr1:45795103:T:G 1566_1441_481_K->Q 0.000199681 407 chr1:45796198:C:T 1566_1424_475_G->E 0.000599042 407 chr1:45796226:A:G 1566_1396_466_F->L 0.000199681 407 chr1:45796913:C:T 1566_1333_445_A->T 0.000399361 407 chr1:45797157:G:T 1566_1174_392_L->M 0.000199681 407 chr1:45797198:G:T 1566_1133_378_S->Y 0.000199681 407 chr1:45797201:G:A 1566_1130_377_P->L 0.000199681 407 chr1:45797228:C:T 1566_1103_368_G->D 0.00239617 407 chr1:45797401:G:A 1566_1034_345_A->V 0.00139776 407 chr1:45797505:C:G 1566_930_310_Q->H 0.313498 407 chr1:45797707:C:T 1566_901_301_V->M 0.000599042 407 chr1:45797721:G:A 1566_887_296_S->L 0.000199681 407 chr1:45797839:C:T 1566_848_283_R->K 0.000199681 407 chr1:45797851:C:T 1566_836_279_R->Q 0.000199681 407 chr1:45798093:G:C 1566_674_225_P->R 0.000199681 407 chr1:45798118:G:A 1566_649_217_R->C 0.000199681 407 chr1:45798153:C:A 1566_614_205_G->V 0.000199681 407 chr1:45798260:T:C 1566_592_198_I->V 0.000199681 407 chr1:45798328:C:G 1566_524_175_R->P 0.000199681 407 chr1:45798457:C:T 1566_470_157_R->Q 0.000199681 407 chr1:45798475:T:C 1566_452_151_Y->C 0.000199681 407 chr1:45798601:C:T 1566_409_137_A->T 0.000199681 407 chr1:45798613:C:G 1566_397_133_D->H 0.000399361 407 chr1:45799179:T:C 1566_170_57_H->R 0.000199681 407 chr1:45800095:T:C 1566_83_28_N->S 0.000399361 407 chr1:45800146:C:T 1566_32_11_G->D 0.00179712 407 chr1:45800156:C:T 1566_22_8_V->M 0.0203674 407 chr1:45800167:G:A 1566_11_4_P->L 0.00179712 407 chr1:45800176:A:G 1566_2_1_M->T 0.000199681 407 na12878 Variants: 407 chr1:45797505:C:G 1566_930_310_Q->H 407 snyder Variants: 407 chr1:45797505:C:G 1566_930_310_Q->H 408 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000354383 gene_Name: MUTYH_HUMAN 408 list of pdbs: 408 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 408 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 408 Zimmer Variants: 408 chr1:45800156:C:T 1569_22_8_V->M 408 HGMD Variants: 408 chr1:45796892:C:A 1569_1357_453_E->* 408 chr1:45796895:C:A 1569_1354_452_E->* 408 chr1:45797169:G:A 1569_1165_389_Q->* 408 chr1:45797348:G:A 1569_1090_364_Q->* 408 chr1:45797507:G:A 1569_931_311_Q->* 408 chr1:45797752:G:A 1569_859_287_Q->* 408 chr1:45797972:G:A 1569_718_240_Q->* 408 chr1:45798112:G:A 1569_658_220_R->* 408 chr1:45798308:G:A 1569_547_183_Q->* 408 chr1:45798350:C:A 1569_505_169_E->* 408 chr1:45798490:C:T 1569_440_147_W->* 408 chr1:45798627:C:T 1569_386_129_W->* 408 chr1:45798838:C:T 1569_312_104_W->* 408 chr1:45798961:A:T 1569_303_101_Y->* 408 chr1:45799121:G:T 1569_231_77_Y->* 408 chr1:45799124:C:T 1569_228_76_W->* 408 chr1:45799144:G:A 1569_208_70_R->* 408 chr1:45800165:G:A 1569_13_5_R->* 408 chr1:45796212:C:G 1569_1413_471_Q->H 408 chr1:45796229:C:A 1569_1396_466_V->F 408 chr1:45796865:C:T 1569_1384_462_A->T 408 chr1:45796912:G:T 1569_1337_446_A->D 408 chr1:45796913:C:T 1569_1336_446_A->T 408 chr1:45796969:T:G 1569_1280_427_Q->P 408 chr1:45796988:G:C 1569_1261_421_H->D 408 chr1:45797139:G:A 1569_1195_399_R->C 408 chr1:45797157:G:T 1569_1177_393_L->M 408 chr1:45797201:G:A 1569_1133_378_P->L 408 chr1:45797210:C:A 1569_1124_375_W->L 408 chr1:45797228:C:T 1569_1106_369_G->D 408 chr1:45797356:A:G 1569_1082_361_L->P 408 chr1:45797381:G:T 1569_1057_353_P->T 408 chr1:45797401:G:A 1569_1037_346_A->V 408 chr1:45797505:C:G 1569_933_311_Q->H 408 chr1:45797506:T:C 1569_932_311_Q->R 408 chr1:45797519:G:C 1569_919_307_P->A 408 chr1:45797846:G:A 1569_844_282_R->C 408 chr1:45797887:G:A 1569_803_268_P->L 408 chr1:45797914:C:T 1569_776_259_G->E 408 chr1:45797924:T:C 1569_766_256_M->V 408 chr1:45797950:C:T 1569_740_247_R->Q 408 chr1:45797951:G:A 1569_739_247_R->W 408 chr1:45798102:C:T 1569_668_223_G->D 408 chr1:45798111:C:T 1569_659_220_R->Q 408 chr1:45798115:C:A 1569_655_219_V->F 408 chr1:45798117:C:T 1569_653_218_R->H 408 chr1:45798117:C:A 1569_653_218_R->L 408 chr1:45798118:G:A 1569_652_218_R->C 408 chr1:45798120:C:T 1569_650_217_C->Y 408 chr1:45798123:A:G 1569_647_216_L->P 408 chr1:45798129:C:T 1569_641_214_R->Q 408 chr1:45798130:G:A 1569_640_214_R->W 408 chr1:45798138:T:C 1569_632_211_N->S 408 chr1:45798151:C:T 1569_619_207_V->M 408 chr1:45798269:T:C 1569_586_196_I->V 408 chr1:45798281:T:C 1569_574_192_T->A 408 chr1:45798289:C:T 1569_566_189_G->E 408 chr1:45798293:C:T 1569_562_188_V->M 408 chr1:45798445:C:T 1569_485_162_G->E 408 chr1:45798457:C:T 1569_473_158_R->Q 408 chr1:45798458:G:A 1569_472_158_R->W 408 chr1:45798460:C:T 1569_470_157_R->Q 408 chr1:45798466:C:T 1569_464_155_R->H 408 chr1:45798467:G:C 1569_463_155_R->G 408 chr1:45798467:G:A 1569_463_155_R->C 408 chr1:45798472:T:G 1569_458_153_Y->S 408 chr1:45798475:T:C 1569_455_152_Y->C 408 chr1:45798624:G:A 1569_389_130_P->L 408 chr1:45798840:A:T 1569_310_104_W->R 408 chr1:45798963:A:G 1569_301_101_Y->H 408 chr1:45799102:G:C 1569_250_84_L->V 408 chr1:45799107:C:T 1569_245_82_R->Q 408 chr1:45799108:G:A 1569_244_82_R->W 408 chr1:45799120:C:T 1569_232_78_D->N 408 chr1:45799192:C:A 1569_160_54_V->F 408 chr1:45800146:C:T 1569_32_11_G->D 408 chr1:45800165:G:C 1569_13_5_R->G 408 chr1:45800167:G:A 1569_11_4_P->L 408 chr1:45800177:T:C 1569_1_1_M->V 408 oneKG Variants: 408 chr1:45795049:G:A 1569_1498_500_Q->* 0.000199681 408 chr1:45796892:C:A 1569_1357_453_E->* 0.00179712 408 chr1:45795013:T:C 1569_1534_512_T->A 0.000199681 408 chr1:45795027:C:T 1569_1520_507_R->Q 0.0133786 408 chr1:45795040:C:A 1569_1507_503_D->Y 0.000199681 408 chr1:45795043:G:T 1569_1504_502_L->M 0.00199681 408 chr1:45795072:C:T 1569_1475_492_R->Q 0.000199681 408 chr1:45795084:G:A 1569_1463_488_S->F 0.00459265 408 chr1:45795103:T:G 1569_1444_482_K->Q 0.000199681 408 chr1:45796198:C:T 1569_1427_476_G->E 0.000599042 408 chr1:45796226:A:G 1569_1399_467_F->L 0.000199681 408 chr1:45796913:C:T 1569_1336_446_A->T 0.000399361 408 chr1:45797157:G:T 1569_1177_393_L->M 0.000199681 408 chr1:45797198:G:T 1569_1136_379_S->Y 0.000199681 408 chr1:45797201:G:A 1569_1133_378_P->L 0.000199681 408 chr1:45797228:C:T 1569_1106_369_G->D 0.00239617 408 chr1:45797401:G:A 1569_1037_346_A->V 0.00139776 408 chr1:45797505:C:G 1569_933_311_Q->H 0.313498 408 chr1:45797707:C:T 1569_904_302_V->M 0.000599042 408 chr1:45797721:G:A 1569_890_297_S->L 0.000199681 408 chr1:45797839:C:T 1569_851_284_R->K 0.000199681 408 chr1:45797851:C:T 1569_839_280_R->Q 0.000199681 408 chr1:45798093:G:C 1569_677_226_P->R 0.000199681 408 chr1:45798118:G:A 1569_652_218_R->C 0.000199681 408 chr1:45798153:C:A 1569_617_206_G->V 0.000199681 408 chr1:45798260:T:C 1569_595_199_I->V 0.000199681 408 chr1:45798328:C:G 1569_527_176_R->P 0.000199681 408 chr1:45798457:C:T 1569_473_158_R->Q 0.000199681 408 chr1:45798475:T:C 1569_455_152_Y->C 0.000199681 408 chr1:45798601:C:T 1569_412_138_A->T 0.000199681 408 chr1:45798613:C:G 1569_400_134_D->H 0.000399361 408 chr1:45799179:T:C 1569_173_58_H->R 0.000199681 408 chr1:45800095:T:C 1569_83_28_N->S 0.000399361 408 chr1:45800146:C:T 1569_32_11_G->D 0.00179712 408 chr1:45800156:C:T 1569_22_8_V->M 0.0203674 408 chr1:45800167:G:A 1569_11_4_P->L 0.00179712 408 chr1:45800176:A:G 1569_2_1_M->T 0.000199681 408 na12878 Variants: 408 chr1:45797505:C:G 1569_933_311_Q->H 408 snyder Variants: 408 chr1:45797505:C:G 1569_933_311_Q->H 409 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000355498 gene_Name: MUTYH_HUMAN 409 list of pdbs: 409 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 409 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 409 Zimmer Variants: 409 chr1:45800156:C:T 1566_22_8_V->M 409 HGMD Variants: 409 chr1:45796892:C:A 1566_1354_452_E->* 409 chr1:45796895:C:A 1566_1351_451_E->* 409 chr1:45797169:G:A 1566_1162_388_Q->* 409 chr1:45797348:G:A 1566_1087_363_Q->* 409 chr1:45797507:G:A 1566_928_310_Q->* 409 chr1:45797752:G:A 1566_856_286_Q->* 409 chr1:45797972:G:A 1566_715_239_Q->* 409 chr1:45798112:G:A 1566_655_219_R->* 409 chr1:45798308:G:A 1566_544_182_Q->* 409 chr1:45798350:C:A 1566_502_168_E->* 409 chr1:45798490:C:T 1566_437_146_W->* 409 chr1:45798627:C:T 1566_383_128_W->* 409 chr1:45798838:C:T 1566_309_103_W->* 409 chr1:45798961:A:T 1566_300_100_Y->* 409 chr1:45799121:G:T 1566_228_76_Y->* 409 chr1:45799124:C:T 1566_225_75_W->* 409 chr1:45799144:G:A 1566_205_69_R->* 409 chr1:45800165:G:A 1566_13_5_R->* 409 chr1:45796212:C:G 1566_1410_470_Q->H 409 chr1:45796229:C:A 1566_1393_465_V->F 409 chr1:45796865:C:T 1566_1381_461_A->T 409 chr1:45796912:G:T 1566_1334_445_A->D 409 chr1:45796913:C:T 1566_1333_445_A->T 409 chr1:45796969:T:G 1566_1277_426_Q->P 409 chr1:45796988:G:C 1566_1258_420_H->D 409 chr1:45797139:G:A 1566_1192_398_R->C 409 chr1:45797157:G:T 1566_1174_392_L->M 409 chr1:45797201:G:A 1566_1130_377_P->L 409 chr1:45797210:C:A 1566_1121_374_W->L 409 chr1:45797228:C:T 1566_1103_368_G->D 409 chr1:45797356:A:G 1566_1079_360_L->P 409 chr1:45797381:G:T 1566_1054_352_P->T 409 chr1:45797401:G:A 1566_1034_345_A->V 409 chr1:45797505:C:G 1566_930_310_Q->H 409 chr1:45797506:T:C 1566_929_310_Q->R 409 chr1:45797519:G:C 1566_916_306_P->A 409 chr1:45797846:G:A 1566_841_281_R->C 409 chr1:45797887:G:A 1566_800_267_P->L 409 chr1:45797914:C:T 1566_773_258_G->E 409 chr1:45797924:T:C 1566_763_255_M->V 409 chr1:45797950:C:T 1566_737_246_R->Q 409 chr1:45797951:G:A 1566_736_246_R->W 409 chr1:45798102:C:T 1566_665_222_G->D 409 chr1:45798111:C:T 1566_656_219_R->Q 409 chr1:45798115:C:A 1566_652_218_V->F 409 chr1:45798117:C:T 1566_650_217_R->H 409 chr1:45798117:C:A 1566_650_217_R->L 409 chr1:45798118:G:A 1566_649_217_R->C 409 chr1:45798120:C:T 1566_647_216_C->Y 409 chr1:45798123:A:G 1566_644_215_L->P 409 chr1:45798129:C:T 1566_638_213_R->Q 409 chr1:45798130:G:A 1566_637_213_R->W 409 chr1:45798138:T:C 1566_629_210_N->S 409 chr1:45798151:C:T 1566_616_206_V->M 409 chr1:45798269:T:C 1566_583_195_I->V 409 chr1:45798281:T:C 1566_571_191_T->A 409 chr1:45798289:C:T 1566_563_188_G->E 409 chr1:45798293:C:T 1566_559_187_V->M 409 chr1:45798445:C:T 1566_482_161_G->E 409 chr1:45798457:C:T 1566_470_157_R->Q 409 chr1:45798458:G:A 1566_469_157_R->W 409 chr1:45798460:C:T 1566_467_156_R->Q 409 chr1:45798466:C:T 1566_461_154_R->H 409 chr1:45798467:G:C 1566_460_154_R->G 409 chr1:45798467:G:A 1566_460_154_R->C 409 chr1:45798472:T:G 1566_455_152_Y->S 409 chr1:45798475:T:C 1566_452_151_Y->C 409 chr1:45798624:G:A 1566_386_129_P->L 409 chr1:45798840:A:T 1566_307_103_W->R 409 chr1:45798963:A:G 1566_298_100_Y->H 409 chr1:45799102:G:C 1566_247_83_L->V 409 chr1:45799107:C:T 1566_242_81_R->Q 409 chr1:45799108:G:A 1566_241_81_R->W 409 chr1:45799120:C:T 1566_229_77_D->N 409 chr1:45799192:C:A 1566_157_53_V->F 409 chr1:45800146:C:T 1566_32_11_G->D 409 chr1:45800165:G:C 1566_13_5_R->G 409 chr1:45800167:G:A 1566_11_4_P->L 409 chr1:45800177:T:C 1566_1_1_M->V 409 oneKG Variants: 409 chr1:45795049:G:A 1566_1495_499_Q->* 0.000199681 409 chr1:45796892:C:A 1566_1354_452_E->* 0.00179712 409 chr1:45795013:T:C 1566_1531_511_T->A 0.000199681 409 chr1:45795027:C:T 1566_1517_506_R->Q 0.0133786 409 chr1:45795040:C:A 1566_1504_502_D->Y 0.000199681 409 chr1:45795043:G:T 1566_1501_501_L->M 0.00199681 409 chr1:45795072:C:T 1566_1472_491_R->Q 0.000199681 409 chr1:45795084:G:A 1566_1460_487_S->F 0.00459265 409 chr1:45795103:T:G 1566_1441_481_K->Q 0.000199681 409 chr1:45796198:C:T 1566_1424_475_G->E 0.000599042 409 chr1:45796226:A:G 1566_1396_466_F->L 0.000199681 409 chr1:45796913:C:T 1566_1333_445_A->T 0.000399361 409 chr1:45797157:G:T 1566_1174_392_L->M 0.000199681 409 chr1:45797198:G:T 1566_1133_378_S->Y 0.000199681 409 chr1:45797201:G:A 1566_1130_377_P->L 0.000199681 409 chr1:45797228:C:T 1566_1103_368_G->D 0.00239617 409 chr1:45797401:G:A 1566_1034_345_A->V 0.00139776 409 chr1:45797505:C:G 1566_930_310_Q->H 0.313498 409 chr1:45797707:C:T 1566_901_301_V->M 0.000599042 409 chr1:45797721:G:A 1566_887_296_S->L 0.000199681 409 chr1:45797839:C:T 1566_848_283_R->K 0.000199681 409 chr1:45797851:C:T 1566_836_279_R->Q 0.000199681 409 chr1:45798093:G:C 1566_674_225_P->R 0.000199681 409 chr1:45798118:G:A 1566_649_217_R->C 0.000199681 409 chr1:45798153:C:A 1566_614_205_G->V 0.000199681 409 chr1:45798260:T:C 1566_592_198_I->V 0.000199681 409 chr1:45798328:C:G 1566_524_175_R->P 0.000199681 409 chr1:45798457:C:T 1566_470_157_R->Q 0.000199681 409 chr1:45798475:T:C 1566_452_151_Y->C 0.000199681 409 chr1:45798601:C:T 1566_409_137_A->T 0.000199681 409 chr1:45798613:C:G 1566_397_133_D->H 0.000399361 409 chr1:45799179:T:C 1566_170_57_H->R 0.000199681 409 chr1:45800095:T:C 1566_83_28_N->S 0.000399361 409 chr1:45800146:C:T 1566_32_11_G->D 0.00179712 409 chr1:45800156:C:T 1566_22_8_V->M 0.0203674 409 chr1:45800167:G:A 1566_11_4_P->L 0.00179712 409 chr1:45800176:A:G 1566_2_1_M->T 0.000199681 409 na12878 Variants: 409 chr1:45797505:C:G 1566_930_310_Q->H 409 snyder Variants: 409 chr1:45797505:C:G 1566_930_310_Q->H 410 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000372098 gene_Name: MUTYH_HUMAN 410 list of pdbs: 410 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 410 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 410 Zimmer Variants: 410 chr1:45800156:C:T 1641_64_22_V->M 410 HGMD Variants: 410 chr1:45796892:C:A 1641_1429_477_E->* 410 chr1:45796895:C:A 1641_1426_476_E->* 410 chr1:45797169:G:A 1641_1237_413_Q->* 410 chr1:45797348:G:A 1641_1162_388_Q->* 410 chr1:45797507:G:A 1641_1003_335_Q->* 410 chr1:45797752:G:A 1641_931_311_Q->* 410 chr1:45797972:G:A 1641_790_264_Q->* 410 chr1:45798112:G:A 1641_730_244_R->* 410 chr1:45798308:G:A 1641_619_207_Q->* 410 chr1:45798350:C:A 1641_577_193_E->* 410 chr1:45798490:C:T 1641_512_171_W->* 410 chr1:45798627:C:T 1641_458_153_W->* 410 chr1:45798838:C:T 1641_384_128_W->* 410 chr1:45798961:A:T 1641_375_125_Y->* 410 chr1:45799121:G:T 1641_303_101_Y->* 410 chr1:45799124:C:T 1641_300_100_W->* 410 chr1:45799144:G:A 1641_280_94_R->* 410 chr1:45800165:G:A 1641_55_19_R->* 410 chr1:45796212:C:G 1641_1485_495_Q->H 410 chr1:45796229:C:A 1641_1468_490_V->F 410 chr1:45796865:C:T 1641_1456_486_A->T 410 chr1:45796912:G:T 1641_1409_470_A->D 410 chr1:45796913:C:T 1641_1408_470_A->T 410 chr1:45796969:T:G 1641_1352_451_Q->P 410 chr1:45796988:G:C 1641_1333_445_H->D 410 chr1:45797139:G:A 1641_1267_423_R->C 410 chr1:45797157:G:T 1641_1249_417_L->M 410 chr1:45797201:G:A 1641_1205_402_P->L 410 chr1:45797210:C:A 1641_1196_399_W->L 410 chr1:45797228:C:T 1641_1178_393_G->D 410 chr1:45797356:A:G 1641_1154_385_L->P 410 chr1:45797381:G:T 1641_1129_377_P->T 410 chr1:45797401:G:A 1641_1109_370_A->V 410 chr1:45797505:C:G 1641_1005_335_Q->H 410 chr1:45797506:T:C 1641_1004_335_Q->R 410 chr1:45797519:G:C 1641_991_331_P->A 410 chr1:45797846:G:A 1641_916_306_R->C 410 chr1:45797887:G:A 1641_875_292_P->L 410 chr1:45797914:C:T 1641_848_283_G->E 410 chr1:45797924:T:C 1641_838_280_M->V 410 chr1:45797950:C:T 1641_812_271_R->Q 410 chr1:45797951:G:A 1641_811_271_R->W 410 chr1:45798102:C:T 1641_740_247_G->D 410 chr1:45798111:C:T 1641_731_244_R->Q 410 chr1:45798115:C:A 1641_727_243_V->F 410 chr1:45798117:C:T 1641_725_242_R->H 410 chr1:45798117:C:A 1641_725_242_R->L 410 chr1:45798118:G:A 1641_724_242_R->C 410 chr1:45798120:C:T 1641_722_241_C->Y 410 chr1:45798123:A:G 1641_719_240_L->P 410 chr1:45798129:C:T 1641_713_238_R->Q 410 chr1:45798130:G:A 1641_712_238_R->W 410 chr1:45798138:T:C 1641_704_235_N->S 410 chr1:45798151:C:T 1641_691_231_V->M 410 chr1:45798269:T:C 1641_658_220_I->V 410 chr1:45798281:T:C 1641_646_216_T->A 410 chr1:45798289:C:T 1641_638_213_G->E 410 chr1:45798293:C:T 1641_634_212_V->M 410 chr1:45798445:C:T 1641_557_186_G->E 410 chr1:45798457:C:T 1641_545_182_R->Q 410 chr1:45798458:G:A 1641_544_182_R->W 410 chr1:45798460:C:T 1641_542_181_R->Q 410 chr1:45798466:C:T 1641_536_179_R->H 410 chr1:45798467:G:C 1641_535_179_R->G 410 chr1:45798467:G:A 1641_535_179_R->C 410 chr1:45798472:T:G 1641_530_177_Y->S 410 chr1:45798475:T:C 1641_527_176_Y->C 410 chr1:45798624:G:A 1641_461_154_P->L 410 chr1:45798840:A:T 1641_382_128_W->R 410 chr1:45798963:A:G 1641_373_125_Y->H 410 chr1:45799102:G:C 1641_322_108_L->V 410 chr1:45799107:C:T 1641_317_106_R->Q 410 chr1:45799108:G:A 1641_316_106_R->W 410 chr1:45799120:C:T 1641_304_102_D->N 410 chr1:45799192:C:A 1641_232_78_V->F 410 chr1:45800146:C:T 1641_74_25_G->D 410 chr1:45800165:G:C 1641_55_19_R->G 410 chr1:45800167:G:A 1641_53_18_P->L 410 chr1:45800177:T:C 1641_43_15_M->V 410 oneKG Variants: 410 chr1:45795049:G:A 1641_1570_524_Q->* 0.000199681 410 chr1:45796892:C:A 1641_1429_477_E->* 0.00179712 410 chr1:45795013:T:C 1641_1606_536_T->A 0.000199681 410 chr1:45795027:C:T 1641_1592_531_R->Q 0.0133786 410 chr1:45795040:C:A 1641_1579_527_D->Y 0.000199681 410 chr1:45795043:G:T 1641_1576_526_L->M 0.00199681 410 chr1:45795072:C:T 1641_1547_516_R->Q 0.000199681 410 chr1:45795084:G:A 1641_1535_512_S->F 0.00459265 410 chr1:45795103:T:G 1641_1516_506_K->Q 0.000199681 410 chr1:45796198:C:T 1641_1499_500_G->E 0.000599042 410 chr1:45796226:A:G 1641_1471_491_F->L 0.000199681 410 chr1:45796913:C:T 1641_1408_470_A->T 0.000399361 410 chr1:45797157:G:T 1641_1249_417_L->M 0.000199681 410 chr1:45797198:G:T 1641_1208_403_S->Y 0.000199681 410 chr1:45797201:G:A 1641_1205_402_P->L 0.000199681 410 chr1:45797228:C:T 1641_1178_393_G->D 0.00239617 410 chr1:45797401:G:A 1641_1109_370_A->V 0.00139776 410 chr1:45797505:C:G 1641_1005_335_Q->H 0.313498 410 chr1:45797707:C:T 1641_976_326_V->M 0.000599042 410 chr1:45797721:G:A 1641_962_321_S->L 0.000199681 410 chr1:45797839:C:T 1641_923_308_R->K 0.000199681 410 chr1:45797851:C:T 1641_911_304_R->Q 0.000199681 410 chr1:45798093:G:C 1641_749_250_P->R 0.000199681 410 chr1:45798118:G:A 1641_724_242_R->C 0.000199681 410 chr1:45798153:C:A 1641_689_230_G->V 0.000199681 410 chr1:45798260:T:C 1641_667_223_I->V 0.000199681 410 chr1:45798328:C:G 1641_599_200_R->P 0.000199681 410 chr1:45798457:C:T 1641_545_182_R->Q 0.000199681 410 chr1:45798475:T:C 1641_527_176_Y->C 0.000199681 410 chr1:45798601:C:T 1641_484_162_A->T 0.000199681 410 chr1:45798613:C:G 1641_472_158_D->H 0.000399361 410 chr1:45799179:T:C 1641_245_82_H->R 0.000199681 410 chr1:45799246:C:T 1641_178_60_G->R 0.000199681 410 chr1:45800095:T:C 1641_125_42_N->S 0.000399361 410 chr1:45800146:C:T 1641_74_25_G->D 0.00179712 410 chr1:45800156:C:T 1641_64_22_V->M 0.0203674 410 chr1:45800167:G:A 1641_53_18_P->L 0.00179712 410 chr1:45800176:A:G 1641_44_15_M->T 0.000199681 410 na12878 Variants: 410 chr1:45797505:C:G 1641_1005_335_Q->H 410 snyder Variants: 410 chr1:45797505:C:G 1641_1005_335_Q->H 411 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000372110 gene_Name: MUTYH_HUMAN 411 list of pdbs: 411 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 411 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 411 Zimmer Variants: 411 chr1:45800156:C:T 1611_64_22_V->M 411 HGMD Variants: 411 chr1:45796892:C:A 1611_1399_467_E->* 411 chr1:45796895:C:A 1611_1396_466_E->* 411 chr1:45797169:G:A 1611_1207_403_Q->* 411 chr1:45797348:G:A 1611_1132_378_Q->* 411 chr1:45797507:G:A 1611_973_325_Q->* 411 chr1:45797752:G:A 1611_901_301_Q->* 411 chr1:45797972:G:A 1611_760_254_Q->* 411 chr1:45798112:G:A 1611_700_234_R->* 411 chr1:45798308:G:A 1611_589_197_Q->* 411 chr1:45798350:C:A 1611_547_183_E->* 411 chr1:45798490:C:T 1611_482_161_W->* 411 chr1:45798627:C:T 1611_428_143_W->* 411 chr1:45798838:C:T 1611_354_118_W->* 411 chr1:45798961:A:T 1611_345_115_Y->* 411 chr1:45799121:G:T 1611_273_91_Y->* 411 chr1:45799124:C:T 1611_270_90_W->* 411 chr1:45799144:G:A 1611_250_84_R->* 411 chr1:45800165:G:A 1611_55_19_R->* 411 chr1:45796212:C:G 1611_1455_485_Q->H 411 chr1:45796229:C:A 1611_1438_480_V->F 411 chr1:45796865:C:T 1611_1426_476_A->T 411 chr1:45796912:G:T 1611_1379_460_A->D 411 chr1:45796913:C:T 1611_1378_460_A->T 411 chr1:45796969:T:G 1611_1322_441_Q->P 411 chr1:45796988:G:C 1611_1303_435_H->D 411 chr1:45797139:G:A 1611_1237_413_R->C 411 chr1:45797157:G:T 1611_1219_407_L->M 411 chr1:45797201:G:A 1611_1175_392_P->L 411 chr1:45797210:C:A 1611_1166_389_W->L 411 chr1:45797228:C:T 1611_1148_383_G->D 411 chr1:45797356:A:G 1611_1124_375_L->P 411 chr1:45797381:G:T 1611_1099_367_P->T 411 chr1:45797401:G:A 1611_1079_360_A->V 411 chr1:45797505:C:G 1611_975_325_Q->H 411 chr1:45797506:T:C 1611_974_325_Q->R 411 chr1:45797519:G:C 1611_961_321_P->A 411 chr1:45797846:G:A 1611_886_296_R->C 411 chr1:45797887:G:A 1611_845_282_P->L 411 chr1:45797914:C:T 1611_818_273_G->E 411 chr1:45797924:T:C 1611_808_270_M->V 411 chr1:45797950:C:T 1611_782_261_R->Q 411 chr1:45797951:G:A 1611_781_261_R->W 411 chr1:45798102:C:T 1611_710_237_G->D 411 chr1:45798111:C:T 1611_701_234_R->Q 411 chr1:45798115:C:A 1611_697_233_V->F 411 chr1:45798117:C:T 1611_695_232_R->H 411 chr1:45798117:C:A 1611_695_232_R->L 411 chr1:45798118:G:A 1611_694_232_R->C 411 chr1:45798120:C:T 1611_692_231_C->Y 411 chr1:45798123:A:G 1611_689_230_L->P 411 chr1:45798129:C:T 1611_683_228_R->Q 411 chr1:45798130:G:A 1611_682_228_R->W 411 chr1:45798138:T:C 1611_674_225_N->S 411 chr1:45798151:C:T 1611_661_221_V->M 411 chr1:45798269:T:C 1611_628_210_I->V 411 chr1:45798281:T:C 1611_616_206_T->A 411 chr1:45798289:C:T 1611_608_203_G->E 411 chr1:45798293:C:T 1611_604_202_V->M 411 chr1:45798445:C:T 1611_527_176_G->E 411 chr1:45798457:C:T 1611_515_172_R->Q 411 chr1:45798458:G:A 1611_514_172_R->W 411 chr1:45798460:C:T 1611_512_171_R->Q 411 chr1:45798466:C:T 1611_506_169_R->H 411 chr1:45798467:G:C 1611_505_169_R->G 411 chr1:45798467:G:A 1611_505_169_R->C 411 chr1:45798472:T:G 1611_500_167_Y->S 411 chr1:45798475:T:C 1611_497_166_Y->C 411 chr1:45798624:G:A 1611_431_144_P->L 411 chr1:45798840:A:T 1611_352_118_W->R 411 chr1:45798963:A:G 1611_343_115_Y->H 411 chr1:45799102:G:C 1611_292_98_L->V 411 chr1:45799107:C:T 1611_287_96_R->Q 411 chr1:45799108:G:A 1611_286_96_R->W 411 chr1:45799120:C:T 1611_274_92_D->N 411 chr1:45799192:C:A 1611_202_68_V->F 411 chr1:45800146:C:T 1611_74_25_G->D 411 chr1:45800165:G:C 1611_55_19_R->G 411 chr1:45800167:G:A 1611_53_18_P->L 411 chr1:45800177:T:C 1611_43_15_M->V 411 oneKG Variants: 411 chr1:45795049:G:A 1611_1540_514_Q->* 0.000199681 411 chr1:45796892:C:A 1611_1399_467_E->* 0.00179712 411 chr1:45795013:T:C 1611_1576_526_T->A 0.000199681 411 chr1:45795027:C:T 1611_1562_521_R->Q 0.0133786 411 chr1:45795040:C:A 1611_1549_517_D->Y 0.000199681 411 chr1:45795043:G:T 1611_1546_516_L->M 0.00199681 411 chr1:45795072:C:T 1611_1517_506_R->Q 0.000199681 411 chr1:45795084:G:A 1611_1505_502_S->F 0.00459265 411 chr1:45795103:T:G 1611_1486_496_K->Q 0.000199681 411 chr1:45796198:C:T 1611_1469_490_G->E 0.000599042 411 chr1:45796226:A:G 1611_1441_481_F->L 0.000199681 411 chr1:45796913:C:T 1611_1378_460_A->T 0.000399361 411 chr1:45797157:G:T 1611_1219_407_L->M 0.000199681 411 chr1:45797198:G:T 1611_1178_393_S->Y 0.000199681 411 chr1:45797201:G:A 1611_1175_392_P->L 0.000199681 411 chr1:45797228:C:T 1611_1148_383_G->D 0.00239617 411 chr1:45797401:G:A 1611_1079_360_A->V 0.00139776 411 chr1:45797505:C:G 1611_975_325_Q->H 0.313498 411 chr1:45797707:C:T 1611_946_316_V->M 0.000599042 411 chr1:45797721:G:A 1611_932_311_S->L 0.000199681 411 chr1:45797839:C:T 1611_893_298_R->K 0.000199681 411 chr1:45797851:C:T 1611_881_294_R->Q 0.000199681 411 chr1:45798093:G:C 1611_719_240_P->R 0.000199681 411 chr1:45798118:G:A 1611_694_232_R->C 0.000199681 411 chr1:45798153:C:A 1611_659_220_G->V 0.000199681 411 chr1:45798260:T:C 1611_637_213_I->V 0.000199681 411 chr1:45798328:C:G 1611_569_190_R->P 0.000199681 411 chr1:45798457:C:T 1611_515_172_R->Q 0.000199681 411 chr1:45798475:T:C 1611_497_166_Y->C 0.000199681 411 chr1:45798601:C:T 1611_454_152_A->T 0.000199681 411 chr1:45798613:C:G 1611_442_148_D->H 0.000399361 411 chr1:45799179:T:C 1611_215_72_H->R 0.000199681 411 chr1:45800095:T:C 1611_125_42_N->S 0.000399361 411 chr1:45800146:C:T 1611_74_25_G->D 0.00179712 411 chr1:45800156:C:T 1611_64_22_V->M 0.0203674 411 chr1:45800167:G:A 1611_53_18_P->L 0.00179712 411 chr1:45800176:A:G 1611_44_15_M->T 0.000199681 411 na12878 Variants: 411 chr1:45797505:C:G 1611_975_325_Q->H 411 snyder Variants: 411 chr1:45797505:C:G 1611_975_325_Q->H 412 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000372115 gene_Name: MUTYH_HUMAN 412 list of pdbs: 412 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 412 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 412 Zimmer Variants: 412 chr1:45800156:C:T 1608_64_22_V->M 412 HGMD Variants: 412 chr1:45796892:C:A 1608_1396_466_E->* 412 chr1:45796895:C:A 1608_1393_465_E->* 412 chr1:45797169:G:A 1608_1204_402_Q->* 412 chr1:45797348:G:A 1608_1129_377_Q->* 412 chr1:45797507:G:A 1608_970_324_Q->* 412 chr1:45797752:G:A 1608_898_300_Q->* 412 chr1:45797972:G:A 1608_757_253_Q->* 412 chr1:45798112:G:A 1608_697_233_R->* 412 chr1:45798308:G:A 1608_586_196_Q->* 412 chr1:45798350:C:A 1608_544_182_E->* 412 chr1:45798490:C:T 1608_479_160_W->* 412 chr1:45798627:C:T 1608_425_142_W->* 412 chr1:45798838:C:T 1608_351_117_W->* 412 chr1:45798961:A:T 1608_342_114_Y->* 412 chr1:45799121:G:T 1608_270_90_Y->* 412 chr1:45799124:C:T 1608_267_89_W->* 412 chr1:45799144:G:A 1608_247_83_R->* 412 chr1:45800165:G:A 1608_55_19_R->* 412 chr1:45796212:C:G 1608_1452_484_Q->H 412 chr1:45796229:C:A 1608_1435_479_V->F 412 chr1:45796865:C:T 1608_1423_475_A->T 412 chr1:45796912:G:T 1608_1376_459_A->D 412 chr1:45796913:C:T 1608_1375_459_A->T 412 chr1:45796969:T:G 1608_1319_440_Q->P 412 chr1:45796988:G:C 1608_1300_434_H->D 412 chr1:45797139:G:A 1608_1234_412_R->C 412 chr1:45797157:G:T 1608_1216_406_L->M 412 chr1:45797201:G:A 1608_1172_391_P->L 412 chr1:45797210:C:A 1608_1163_388_W->L 412 chr1:45797228:C:T 1608_1145_382_G->D 412 chr1:45797356:A:G 1608_1121_374_L->P 412 chr1:45797381:G:T 1608_1096_366_P->T 412 chr1:45797401:G:A 1608_1076_359_A->V 412 chr1:45797505:C:G 1608_972_324_Q->H 412 chr1:45797506:T:C 1608_971_324_Q->R 412 chr1:45797519:G:C 1608_958_320_P->A 412 chr1:45797846:G:A 1608_883_295_R->C 412 chr1:45797887:G:A 1608_842_281_P->L 412 chr1:45797914:C:T 1608_815_272_G->E 412 chr1:45797924:T:C 1608_805_269_M->V 412 chr1:45797950:C:T 1608_779_260_R->Q 412 chr1:45797951:G:A 1608_778_260_R->W 412 chr1:45798102:C:T 1608_707_236_G->D 412 chr1:45798111:C:T 1608_698_233_R->Q 412 chr1:45798115:C:A 1608_694_232_V->F 412 chr1:45798117:C:T 1608_692_231_R->H 412 chr1:45798117:C:A 1608_692_231_R->L 412 chr1:45798118:G:A 1608_691_231_R->C 412 chr1:45798120:C:T 1608_689_230_C->Y 412 chr1:45798123:A:G 1608_686_229_L->P 412 chr1:45798129:C:T 1608_680_227_R->Q 412 chr1:45798130:G:A 1608_679_227_R->W 412 chr1:45798138:T:C 1608_671_224_N->S 412 chr1:45798151:C:T 1608_658_220_V->M 412 chr1:45798269:T:C 1608_625_209_I->V 412 chr1:45798281:T:C 1608_613_205_T->A 412 chr1:45798289:C:T 1608_605_202_G->E 412 chr1:45798293:C:T 1608_601_201_V->M 412 chr1:45798445:C:T 1608_524_175_G->E 412 chr1:45798457:C:T 1608_512_171_R->Q 412 chr1:45798458:G:A 1608_511_171_R->W 412 chr1:45798460:C:T 1608_509_170_R->Q 412 chr1:45798466:C:T 1608_503_168_R->H 412 chr1:45798467:G:C 1608_502_168_R->G 412 chr1:45798467:G:A 1608_502_168_R->C 412 chr1:45798472:T:G 1608_497_166_Y->S 412 chr1:45798475:T:C 1608_494_165_Y->C 412 chr1:45798624:G:A 1608_428_143_P->L 412 chr1:45798840:A:T 1608_349_117_W->R 412 chr1:45798963:A:G 1608_340_114_Y->H 412 chr1:45799102:G:C 1608_289_97_L->V 412 chr1:45799107:C:T 1608_284_95_R->Q 412 chr1:45799108:G:A 1608_283_95_R->W 412 chr1:45799120:C:T 1608_271_91_D->N 412 chr1:45799192:C:A 1608_199_67_V->F 412 chr1:45800146:C:T 1608_74_25_G->D 412 chr1:45800165:G:C 1608_55_19_R->G 412 chr1:45800167:G:A 1608_53_18_P->L 412 chr1:45800177:T:C 1608_43_15_M->V 412 oneKG Variants: 412 chr1:45795049:G:A 1608_1537_513_Q->* 0.000199681 412 chr1:45796892:C:A 1608_1396_466_E->* 0.00179712 412 chr1:45795013:T:C 1608_1573_525_T->A 0.000199681 412 chr1:45795027:C:T 1608_1559_520_R->Q 0.0133786 412 chr1:45795040:C:A 1608_1546_516_D->Y 0.000199681 412 chr1:45795043:G:T 1608_1543_515_L->M 0.00199681 412 chr1:45795072:C:T 1608_1514_505_R->Q 0.000199681 412 chr1:45795084:G:A 1608_1502_501_S->F 0.00459265 412 chr1:45795103:T:G 1608_1483_495_K->Q 0.000199681 412 chr1:45796198:C:T 1608_1466_489_G->E 0.000599042 412 chr1:45796226:A:G 1608_1438_480_F->L 0.000199681 412 chr1:45796913:C:T 1608_1375_459_A->T 0.000399361 412 chr1:45797157:G:T 1608_1216_406_L->M 0.000199681 412 chr1:45797198:G:T 1608_1175_392_S->Y 0.000199681 412 chr1:45797201:G:A 1608_1172_391_P->L 0.000199681 412 chr1:45797228:C:T 1608_1145_382_G->D 0.00239617 412 chr1:45797401:G:A 1608_1076_359_A->V 0.00139776 412 chr1:45797505:C:G 1608_972_324_Q->H 0.313498 412 chr1:45797707:C:T 1608_943_315_V->M 0.000599042 412 chr1:45797721:G:A 1608_929_310_S->L 0.000199681 412 chr1:45797839:C:T 1608_890_297_R->K 0.000199681 412 chr1:45797851:C:T 1608_878_293_R->Q 0.000199681 412 chr1:45798093:G:C 1608_716_239_P->R 0.000199681 412 chr1:45798118:G:A 1608_691_231_R->C 0.000199681 412 chr1:45798153:C:A 1608_656_219_G->V 0.000199681 412 chr1:45798260:T:C 1608_634_212_I->V 0.000199681 412 chr1:45798328:C:G 1608_566_189_R->P 0.000199681 412 chr1:45798457:C:T 1608_512_171_R->Q 0.000199681 412 chr1:45798475:T:C 1608_494_165_Y->C 0.000199681 412 chr1:45798601:C:T 1608_451_151_A->T 0.000199681 412 chr1:45798613:C:G 1608_439_147_D->H 0.000399361 412 chr1:45799179:T:C 1608_212_71_H->R 0.000199681 412 chr1:45800095:T:C 1608_125_42_N->S 0.000399361 412 chr1:45800146:C:T 1608_74_25_G->D 0.00179712 412 chr1:45800156:C:T 1608_64_22_V->M 0.0203674 412 chr1:45800167:G:A 1608_53_18_P->L 0.00179712 412 chr1:45800176:A:G 1608_44_15_M->T 0.000199681 412 na12878 Variants: 412 chr1:45797505:C:G 1608_972_324_Q->H 412 snyder Variants: 412 chr1:45797505:C:G 1608_972_324_Q->H 413 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132781_ENST00000372100 gene_Name: MUTYH_HUMAN 413 list of pdbs: 413 3N5N pdb_description: 10-Nov-10 X-ray 2.300 Crystal structure analysis of the catalytic domain and inter connector of human muty homologue 413 1X51 pdb_description: 15-Nov-05 NMR 20 Solution structure of the nudix domain from human a/g- specific adenine DNA glycosylase alpha-3 splice isoform 413 Zimmer Variants: 413 chr1:45800156:C:T 1599_22_8_V->M 413 HGMD Variants: 413 chr1:45796892:C:A 1599_1387_463_E->* 413 chr1:45796895:C:A 1599_1384_462_E->* 413 chr1:45797169:G:A 1599_1195_399_Q->* 413 chr1:45797348:G:A 1599_1120_374_Q->* 413 chr1:45797507:G:A 1599_961_321_Q->* 413 chr1:45797752:G:A 1599_889_297_Q->* 413 chr1:45797972:G:A 1599_748_250_Q->* 413 chr1:45798112:G:A 1599_688_230_R->* 413 chr1:45798308:G:A 1599_577_193_Q->* 413 chr1:45798350:C:A 1599_535_179_E->* 413 chr1:45798490:C:T 1599_470_157_W->* 413 chr1:45798627:C:T 1599_416_139_W->* 413 chr1:45798838:C:T 1599_342_114_W->* 413 chr1:45798961:A:T 1599_333_111_Y->* 413 chr1:45799121:G:T 1599_261_87_Y->* 413 chr1:45799124:C:T 1599_258_86_W->* 413 chr1:45799144:G:A 1599_238_80_R->* 413 chr1:45800165:G:A 1599_13_5_R->* 413 chr1:45796212:C:G 1599_1443_481_Q->H 413 chr1:45796229:C:A 1599_1426_476_V->F 413 chr1:45796865:C:T 1599_1414_472_A->T 413 chr1:45796912:G:T 1599_1367_456_A->D 413 chr1:45796913:C:T 1599_1366_456_A->T 413 chr1:45796969:T:G 1599_1310_437_Q->P 413 chr1:45796988:G:C 1599_1291_431_H->D 413 chr1:45797139:G:A 1599_1225_409_R->C 413 chr1:45797157:G:T 1599_1207_403_L->M 413 chr1:45797201:G:A 1599_1163_388_P->L 413 chr1:45797210:C:A 1599_1154_385_W->L 413 chr1:45797228:C:T 1599_1136_379_G->D 413 chr1:45797356:A:G 1599_1112_371_L->P 413 chr1:45797381:G:T 1599_1087_363_P->T 413 chr1:45797401:G:A 1599_1067_356_A->V 413 chr1:45797505:C:G 1599_963_321_Q->H 413 chr1:45797506:T:C 1599_962_321_Q->R 413 chr1:45797519:G:C 1599_949_317_P->A 413 chr1:45797846:G:A 1599_874_292_R->C 413 chr1:45797887:G:A 1599_833_278_P->L 413 chr1:45797914:C:T 1599_806_269_G->E 413 chr1:45797924:T:C 1599_796_266_M->V 413 chr1:45797950:C:T 1599_770_257_R->Q 413 chr1:45797951:G:A 1599_769_257_R->W 413 chr1:45798102:C:T 1599_698_233_G->D 413 chr1:45798111:C:T 1599_689_230_R->Q 413 chr1:45798115:C:A 1599_685_229_V->F 413 chr1:45798117:C:T 1599_683_228_R->H 413 chr1:45798117:C:A 1599_683_228_R->L 413 chr1:45798118:G:A 1599_682_228_R->C 413 chr1:45798120:C:T 1599_680_227_C->Y 413 chr1:45798123:A:G 1599_677_226_L->P 413 chr1:45798129:C:T 1599_671_224_R->Q 413 chr1:45798130:G:A 1599_670_224_R->W 413 chr1:45798138:T:C 1599_662_221_N->S 413 chr1:45798151:C:T 1599_649_217_V->M 413 chr1:45798269:T:C 1599_616_206_I->V 413 chr1:45798281:T:C 1599_604_202_T->A 413 chr1:45798289:C:T 1599_596_199_G->E 413 chr1:45798293:C:T 1599_592_198_V->M 413 chr1:45798445:C:T 1599_515_172_G->E 413 chr1:45798457:C:T 1599_503_168_R->Q 413 chr1:45798458:G:A 1599_502_168_R->W 413 chr1:45798460:C:T 1599_500_167_R->Q 413 chr1:45798466:C:T 1599_494_165_R->H 413 chr1:45798467:G:C 1599_493_165_R->G 413 chr1:45798467:G:A 1599_493_165_R->C 413 chr1:45798472:T:G 1599_488_163_Y->S 413 chr1:45798475:T:C 1599_485_162_Y->C 413 chr1:45798624:G:A 1599_419_140_P->L 413 chr1:45798840:A:T 1599_340_114_W->R 413 chr1:45798963:A:G 1599_331_111_Y->H 413 chr1:45799102:G:C 1599_280_94_L->V 413 chr1:45799107:C:T 1599_275_92_R->Q 413 chr1:45799108:G:A 1599_274_92_R->W 413 chr1:45799120:C:T 1599_262_88_D->N 413 chr1:45799192:C:A 1599_190_64_V->F 413 chr1:45800146:C:T 1599_32_11_G->D 413 chr1:45800165:G:C 1599_13_5_R->G 413 chr1:45800167:G:A 1599_11_4_P->L 413 chr1:45800177:T:C 1599_1_1_M->V 413 oneKG Variants: 413 chr1:45795049:G:A 1599_1528_510_Q->* 0.000199681 413 chr1:45796892:C:A 1599_1387_463_E->* 0.00179712 413 chr1:45795013:T:C 1599_1564_522_T->A 0.000199681 413 chr1:45795027:C:T 1599_1550_517_R->Q 0.0133786 413 chr1:45795040:C:A 1599_1537_513_D->Y 0.000199681 413 chr1:45795043:G:T 1599_1534_512_L->M 0.00199681 413 chr1:45795072:C:T 1599_1505_502_R->Q 0.000199681 413 chr1:45795084:G:A 1599_1493_498_S->F 0.00459265 413 chr1:45795103:T:G 1599_1474_492_K->Q 0.000199681 413 chr1:45796198:C:T 1599_1457_486_G->E 0.000599042 413 chr1:45796226:A:G 1599_1429_477_F->L 0.000199681 413 chr1:45796913:C:T 1599_1366_456_A->T 0.000399361 413 chr1:45797157:G:T 1599_1207_403_L->M 0.000199681 413 chr1:45797198:G:T 1599_1166_389_S->Y 0.000199681 413 chr1:45797201:G:A 1599_1163_388_P->L 0.000199681 413 chr1:45797228:C:T 1599_1136_379_G->D 0.00239617 413 chr1:45797401:G:A 1599_1067_356_A->V 0.00139776 413 chr1:45797505:C:G 1599_963_321_Q->H 0.313498 413 chr1:45797707:C:T 1599_934_312_V->M 0.000599042 413 chr1:45797721:G:A 1599_920_307_S->L 0.000199681 413 chr1:45797839:C:T 1599_881_294_R->K 0.000199681 413 chr1:45797851:C:T 1599_869_290_R->Q 0.000199681 413 chr1:45798093:G:C 1599_707_236_P->R 0.000199681 413 chr1:45798118:G:A 1599_682_228_R->C 0.000199681 413 chr1:45798153:C:A 1599_647_216_G->V 0.000199681 413 chr1:45798260:T:C 1599_625_209_I->V 0.000199681 413 chr1:45798328:C:G 1599_557_186_R->P 0.000199681 413 chr1:45798457:C:T 1599_503_168_R->Q 0.000199681 413 chr1:45798475:T:C 1599_485_162_Y->C 0.000199681 413 chr1:45798601:C:T 1599_442_148_A->T 0.000199681 413 chr1:45798613:C:G 1599_430_144_D->H 0.000399361 413 chr1:45799179:T:C 1599_203_68_H->R 0.000199681 413 chr1:45799246:C:T 1599_136_46_G->R 0.000199681 413 chr1:45800095:T:C 1599_83_28_N->S 0.000399361 413 chr1:45800146:C:T 1599_32_11_G->D 0.00179712 413 chr1:45800156:C:T 1599_22_8_V->M 0.0203674 413 chr1:45800167:G:A 1599_11_4_P->L 0.00179712 413 chr1:45800176:A:G 1599_2_1_M->T 0.000199681 413 na12878 Variants: 413 chr1:45797505:C:G 1599_963_321_Q->H 413 snyder Variants: 413 chr1:45797505:C:G 1599_963_321_Q->H 414 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000021852_ENST00000371237 gene_Name: CO8B_HUMAN 414 list of pdbs: 414 3OJY pdb_description: 13-Apr-11 X-ray 2.510 Crystal structure of human complement component c8 414 Zimmer Variants: 414 chr1:57422484:C:T 1776_349_117_G->R 414 HGMD Variants: 414 chr1:57406638:G:A 1776_1282_428_R->* 414 chr1:57415272:G:A 1776_820_274_R->* 414 chr1:57422472:G:A 1776_361_121_R->* 414 chr1:57422562:G:A 1776_271_91_Q->* 414 oneKG Variants: 414 chr1:57399158:C:A 1776_1402_468_E->* 0.000199681 414 chr1:57406638:G:A 1776_1282_428_R->* 0.00119808 414 chr1:57415272:G:A 1776_820_274_R->* 0.000199681 414 chr1:57415353:T:A 1776_739_247_K->* 0.000199681 414 chr1:57395093:G:A 1776_1760_587_T->I 0.000199681 414 chr1:57395117:G:A 1776_1736_579_P->L 0.000199681 414 chr1:57395130:T:C 1776_1723_575_N->D 0.000399361 414 chr1:57395172:G:A 1776_1681_561_R->C 0.000599042 414 chr1:57395228:G:A 1776_1625_542_T->I 0.00259585 414 chr1:57397497:A:T 1776_1607_536_V->D 0.000199681 414 chr1:57397506:G:C 1776_1598_533_A->G 0.000199681 414 chr1:57399123:A:T 1776_1437_479_F->L 0.000399361 414 chr1:57399155:G:A 1776_1405_469_P->S 0.000199681 414 chr1:57406565:C:G 1776_1355_452_W->S 0.00419329 414 chr1:57406566:A:G 1776_1354_452_W->R 0.000199681 414 chr1:57406637:C:T 1776_1283_428_R->Q 0.000399361 414 chr1:57406652:A:G 1776_1268_423_L->S 0.000199681 414 chr1:57409423:C:T 1776_1180_394_V->I 0.000199681 414 chr1:57409444:C:T 1776_1159_387_G->S 0.000199681 414 chr1:57409459:C:A 1776_1144_382_D->Y 0.00279553 414 chr1:57409469:A:C 1776_1134_378_C->W 0.000199681 414 chr1:57411524:C:T 1776_1075_359_V->I 0.000399361 414 chr1:57411544:C:T 1776_1055_352_G->D 0.000199681 414 chr1:57411587:G:A 1776_1012_338_R->C 0.00119808 414 chr1:57411632:G:A 1776_967_323_R->W 0.000399361 414 chr1:57411642:C:G 1776_957_319_Q->H 0.00159744 414 chr1:57411665:T:C 1776_934_312_M->V 0.000199681 414 chr1:57411691:T:C 1776_908_303_H->R 0.000599042 414 chr1:57411728:C:T 1776_871_291_V->I 0.000199681 414 chr1:57411730:C:T 1776_869_290_S->N 0.000199681 414 chr1:57415257:T:C 1776_835_279_I->V 0.000199681 414 chr1:57415259:T:C 1776_833_278_Y->C 0.000199681 414 chr1:57415263:G:C 1776_829_277_H->D 0.000599042 414 chr1:57415310:G:A 1776_782_261_P->L 0.0421326 414 chr1:57415338:A:T 1776_754_252_S->T 0.000199681 414 chr1:57415368:G:A 1776_724_242_R->C 0.000998403 414 chr1:57417728:G:T 1776_659_220_T->K 0.000199681 414 chr1:57417767:T:C 1776_620_207_N->S 0.000199681 414 chr1:57417782:G:A 1776_605_202_P->L 0.000199681 414 chr1:57417824:C:T 1776_563_188_G->D 0.000199681 414 chr1:57417833:C:G 1776_554_185_S->T 0.000199681 414 chr1:57417851:A:G 1776_536_179_I->T 0.000399361 414 chr1:57420377:A:G 1776_515_172_I->T 0.000199681 414 chr1:57420486:G:A 1776_406_136_R->C 0.000199681 414 chr1:57422481:T:A 1776_352_118_S->C 0.00379393 414 chr1:57422484:C:T 1776_349_117_G->R 0.013578 414 chr1:57422511:C:T 1776_322_108_E->K 0.0415335 414 chr1:57425693:C:A 1776_249_83_R->S 0.000199681 414 chr1:57425730:G:C 1776_212_71_S->C 0.000199681 414 chr1:57425792:G:C 1776_150_50_S->R 0.000599042 414 chr1:57425810:G:C 1776_132_44_N->K 0.00199681 414 chr1:57431590:G:A 1776_32_11_A->V 0.000199681 414 chr1:57431601:C:A 1776_21_7_W->C 0.000399361 414 na12878 Variants: 414 chr1:57422484:C:T 1776_349_117_G->R 414 snyder Variants: 414 chr1:57422484:C:T 1776_349_117_G->R 415 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131686_ENST00000377443 gene_Name: CAH6_HUMAN 415 list of pdbs: 415 3FE4 pdb_description: 16-Dec-08 X-ray 1.900 Crystal structure of human carbonic anhydrase vi 415 Zimmer Variants: 415 chr1:9009444:A:C 927_202_68_M->L 415 chr1:9009406:C:T 927_164_55_T->M 415 HGMD Variants: 415 chr1:9017204:A:G 927_268_90_S->G 415 oneKG Variants: 415 chr1:9006015:A:G 927_70_24_T->A 0.000199681 415 chr1:9009352:A:T 927_110_37_Q->L 0.0541134 415 chr1:9009377:G:C 927_135_45_Q->H 0.000599042 415 chr1:9009406:C:T 927_164_55_T->M 0.270168 415 chr1:9009411:G:T 927_169_57_V->L 0.000399361 415 chr1:9009414:C:T 927_172_58_R->W 0.0491214 415 chr1:9009438:C:T 927_196_66_L->F 0.000199681 415 chr1:9009444:A:C 927_202_68_M->L 0.498602 415 chr1:9009451:G:C 927_209_70_G->A 0.0946486 415 chr1:9009501:G:A 927_259_87_V->M 0.000399361 415 chr1:9017204:A:G 927_268_90_S->G 0.34385 415 chr1:9017223:G:C 927_287_96_R->P 0.000199681 415 chr1:9017240:G:A 927_304_102_G->S 0.000199681 415 chr1:9017273:C:T 927_337_113_H->Y 0.000199681 415 chr1:9017324:G:A 927_388_130_G->R 0.000199681 415 chr1:9019026:C:T 927_466_156_P->S 0.000199681 415 chr1:9019027:C:T 927_467_156_P->L 0.000199681 415 chr1:9022682:T:G 927_538_180_F->V 0.000199681 415 chr1:9027747:G:T 927_601_201_V->F 0.000199681 415 chr1:9027758:G:T 927_612_204_M->I 0.0 415 chr1:9027819:A:G 927_673_225_T->A 0.000199681 415 chr1:9027859:A:G 927_713_238_K->R 0.000199681 415 chr1:9031032:C:T 927_836_279_P->L 0.000199681 415 chr1:9034717:A:G 927_881_294_H->R 0.000399361 415 na12878 Variants: 415 chr1:9009444:A:C 927_202_68_M->L 415 chr1:9009406:C:T 927_164_55_T->M 415 snyder Variants: 415 chr1:9009444:A:C 927_202_68_M->L 415 chr1:9009406:C:T 927_164_55_T->M 415 chr1:9017204:A:G 927_268_90_S->G 416 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131686_ENST00000377436 gene_Name: CAH6_HUMAN 416 list of pdbs: 416 3FE4 pdb_description: 16-Dec-08 X-ray 1.900 Crystal structure of human carbonic anhydrase vi 416 Zimmer Variants: 416 chr1:9009444:A:C 942_202_68_M->L 416 chr1:9009406:C:T 942_164_55_T->M 416 chr1:9034421:G:A 942_860_287_G->E;GENE=CA6;CDSS=1 416 HGMD Variants: 416 chr1:9017204:A:G 942_268_90_S->G 416 oneKG Variants: 416 chr1:9006015:A:G 942_70_24_T->A 0.000199681 416 chr1:9009352:A:T 942_110_37_Q->L 0.0541134 416 chr1:9009377:G:C 942_135_45_Q->H 0.000599042 416 chr1:9009406:C:T 942_164_55_T->M 0.270168 416 chr1:9009411:G:T 942_169_57_V->L 0.000399361 416 chr1:9009414:C:T 942_172_58_R->W 0.0491214 416 chr1:9009438:C:T 942_196_66_L->F 0.000199681 416 chr1:9009444:A:C 942_202_68_M->L 0.498602 416 chr1:9009451:G:C 942_209_70_G->A 0.0946486 416 chr1:9009501:G:A 942_259_87_V->M 0.000399361 416 chr1:9017204:A:G 942_268_90_S->G 0.34385 416 chr1:9017223:G:C 942_287_96_R->P 0.000199681 416 chr1:9017240:G:A 942_304_102_G->S 0.000199681 416 chr1:9017273:C:T 942_337_113_H->Y 0.000199681 416 chr1:9017324:G:A 942_388_130_G->R 0.000199681 416 chr1:9019026:C:T 942_466_156_P->S 0.000199681 416 chr1:9019027:C:T 942_467_156_P->L 0.000199681 416 chr1:9022682:T:G 942_538_180_F->V 0.000199681 416 chr1:9027747:G:T 942_601_201_V->F 0.000199681 416 chr1:9027758:G:T 942_612_204_M->I 0.0 416 chr1:9027819:A:G 942_673_225_T->A 0.000199681 416 chr1:9027859:A:G 942_713_238_K->R 0.000199681 416 chr1:9031032:C:T 942_836_279_P->L 0.000199681 416 chr1:9034421:G:A 942_860_287_G->E 0.460064 416 chr1:9034437:C:A 942_876_292_S->R 0.000199681 416 chr1:9034468:C:T 942_907_303_R->C 0.000199681 416 na12878 Variants: 416 chr1:9009444:A:C 942_202_68_M->L 416 chr1:9009406:C:T 942_164_55_T->M 416 snyder Variants: 416 chr1:9009444:A:C 942_202_68_M->L 416 chr1:9009406:C:T 942_164_55_T->M 416 chr1:9017204:A:G 942_268_90_S->G 416 chr1:9034421:G:A 942_860_287_G->E 417 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148773_ENST00000368653 gene_Name: KI67_HUMAN 417 list of pdbs: 417 2AFF pdb_description: 25-Oct-05 NMR 100 The solution structure of the ki67fha/hnifk(226-269)3p compl 417 1R21 pdb_description: 30-Dec-03 NMR 23 Solution structure of human ki67 fha domain 417 Zimmer Variants: 417 chr10:129917560:T:C 8691_311_104_N->S 417 chr10:129899578:T:C 8691_8569_2857_K->E 417 chr10:129899778:G:C 8691_8369_2790_T->S 417 chr10:129901726:C:T 8691_7298_2433_S->N 417 chr10:129901946:T:G 8691_7078_2360_T->P 417 chr10:129902158:C:T 8691_6866_2289_R->H 417 chr10:129902281:G:A 8691_6743_2248_P->L 417 chr10:129903016:T:C 8691_6008_2003_N->S 417 chr10:129904474:G:A 8691_4550_1517_P->L 417 chr10:129904477:C:T 8691_4547_1516_R->Q 417 chr10:129904654:C:G 8691_4370_1457_R->T 417 chr10:129905429:C:T 8691_3595_1199_V->M 417 chr10:129906364:G:A 8691_2660_887_T->I 417 chr10:129907544:G:C 8691_1480_494_L->V 417 chr10:129910475:T:G 8691_811_271_I->L 417 chr10:129911856:C:G 8691_411_137_E->D 417 HGMD Variants: 417 chr10:129907535:T:A 8691_1489_497_K->* 417 chr10:129909975:G:A 8691_1114_372_R->* 417 oneKG Variants: 417 chr10:129899523:T:C 8691_8624_2875_K->R 0.0135783 417 chr10:129899578:T:C 8691_8569_2857_K->E 0.463658 417 chr10:129899634:A:T 8691_8513_2838_M->K 0.000199681 417 chr10:129899778:G:C 8691_8369_2790_T->S 0.423922 417 chr10:129899835:A:C 8691_8312_2771_M->R 0.000199681 417 chr10:129899836:T:A 8691_8311_2771_M->L 0.000199681 417 chr10:129899910:G:T 8691_8237_2746_T->N 0.000199681 417 chr10:129899922:T:C 8691_8225_2742_E->G 0.0870607 417 chr10:129899943:C:T 8691_8204_2735_R->H 0.000199681 417 chr10:129899952:C:T 8691_8195_2732_R->H 0.000998403 417 chr10:129900859:G:A 8691_8165_2722_S->L 0.00219649 417 chr10:129900862:T:C 8691_8162_2721_D->G 0.000199681 417 chr10:129900883:T:C 8691_8141_2714_K->R 0.000199681 417 chr10:129900889:G:C 8691_8135_2712_T->S 0.000199681 417 chr10:129900917:C:G 8691_8107_2703_E->Q 0.000199681 417 chr10:129900971:C:T 8691_8053_2685_V->M 0.000199681 417 chr10:129900986:T:C 8691_8038_2680_K->E 0.000399361 417 chr10:129901014:C:G 8691_8010_2670_K->N 0.000199681 417 chr10:129901066:C:A 8691_7958_2653_R->L 0.0317492 417 chr10:129901084:G:A 8691_7940_2647_T->M 0.00339457 417 chr10:129901124:G:C 8691_7900_2634_L->V 0.000199681 417 chr10:129901148:T:C 8691_7876_2626_K->E 0.000399361 417 chr10:129901214:G:A 8691_7810_2604_R->W 0.000399361 417 chr10:129901271:C:T 8691_7753_2585_A->T 0.000199681 417 chr10:129901285:T:A 8691_7739_2580_D->V 0.000199681 417 chr10:129901328:G:T 8691_7696_2566_Q->K 0.0135783 417 chr10:129901393:T:C 8691_7631_2544_Q->R 0.233427 417 chr10:129901432:C:T 8691_7592_2531_R->Q 0.000199681 417 chr10:129901481:G:A 8691_7543_2515_P->S 0.000199681 417 chr10:129901501:G:C 8691_7523_2508_T->S 0.180312 417 chr10:129901570:C:T 8691_7454_2485_R->H 0.0784744 417 chr10:129901571:G:A 8691_7453_2485_R->C 0.000199681 417 chr10:129901580:G:A 8691_7444_2482_P->S 0.000599042 417 chr10:129901583:G:A 8691_7441_2481_R->W 0.000199681 417 chr10:129901601:C:T 8691_7423_2475_A->T 0.000199681 417 chr10:129901654:T:C 8691_7370_2457_D->G 0.000199681 417 chr10:129901717:G:A 8691_7307_2436_A->V 0.00319489 417 chr10:129901726:C:T 8691_7298_2433_S->N 0.232228 417 chr10:129901747:C:T 8691_7277_2426_R->Q 0.179712 417 chr10:129901762:G:A 8691_7262_2421_T->I 0.00539137 417 chr10:129901802:C:T 8691_7222_2408_E->K 0.000199681 417 chr10:129901825:T:C 8691_7199_2400_D->G 0.232029 417 chr10:129901853:C:T 8691_7171_2391_D->N 0.000998403 417 chr10:129901877:T:G 8691_7147_2383_T->P 0.000599042 417 chr10:129901942:T:C 8691_7082_2361_K->R 0.000199681 417 chr10:129901946:T:G 8691_7078_2360_T->P 0.222244 417 chr10:129901975:G:C 8691_7049_2350_P->R 0.000199681 417 chr10:129901986:G:C 8691_7038_2346_C->W 0.000199681 417 chr10:129902099:G:A 8691_6925_2309_P->S 0.0105831 417 chr10:129902113:C:T 8691_6911_2304_R->K 0.00159744 417 chr10:129902131:T:C 8691_6893_2298_E->G 0.000199681 417 chr10:129902158:C:T 8691_6866_2289_R->H 0.222244 417 chr10:129902180:C:T 8691_6844_2282_G->S 0.000199681 417 chr10:129902189:C:T 8691_6835_2279_G->S 0.00279553 417 chr10:129902209:G:A 8691_6815_2272_T->I 0.000199681 417 chr10:129902281:G:A 8691_6743_2248_P->L 0.46266 417 chr10:129902284:C:T 8691_6740_2247_R->H 0.00199681 417 chr10:129902368:T:A 8691_6656_2219_D->V 0.0407348 417 chr10:129902411:G:A 8691_6613_2205_L->F 0.0105831 417 chr10:129902444:G:A 8691_6580_2194_R->C 0.00159744 417 chr10:129902515:T:G 8691_6509_2170_K->T 0.000199681 417 chr10:129902533:G:A 8691_6491_2164_A->V 0.000199681 417 chr10:129902572:G:C 8691_6452_2151_T->R 0.000199681 417 chr10:129902573:T:C 8691_6451_2151_T->A 0.000199681 417 chr10:129902597:G:A 8691_6427_2143_R->W 0.000199681 417 chr10:129902647:A:G 8691_6377_2126_L->P 0.000399361 417 chr10:129902750:C:T 8691_6274_2092_E->K 0.000199681 417 chr10:129902795:G:C 8691_6229_2077_L->V 0.000199681 417 chr10:129902852:G:A 8691_6172_2058_P->S 0.000199681 417 chr10:129902938:G:C 8691_6086_2029_T->R 0.0105831 417 chr10:129902953:C:T 8691_6071_2024_G->D 0.000199681 417 chr10:129902968:C:T 8691_6056_2019_R->Q 0.000599042 417 chr10:129903016:T:C 8691_6008_2003_N->S 0.463658 417 chr10:129903094:G:T 8691_5930_1977_T->N 0.0786741 417 chr10:129903109:G:A 8691_5915_1972_T->M 0.0 417 chr10:129903128:G:T 8691_5896_1966_P->T 0.000199681 417 chr10:129903152:C:T 8691_5872_1958_G->S 0.000199681 417 chr10:129903167:G:C 8691_5857_1953_L->V 0.000199681 417 chr10:129903181:T:C 8691_5843_1948_E->G 0.000199681 417 chr10:129903193:T:C 8691_5831_1944_Q->R 0.00119808 417 chr10:129903235:A:G 8691_5789_1930_L->S 0.00159744 417 chr10:129903298:G:A 8691_5726_1909_P->L 0.000199681 417 chr10:129903320:C:A 8691_5704_1902_V->L 0.000798722 417 chr10:129903331:C:G 8691_5693_1898_R->P 0.000199681 417 chr10:129903362:C:T 8691_5662_1888_V->I 0.000399361 417 chr10:129903472:G:T 8691_5552_1851_T->K 0.000199681 417 chr10:129903494:G:C 8691_5530_1844_P->A 0.0105831 417 chr10:129903506:G:A 8691_5518_1840_L->F 0.000599042 417 chr10:129903518:C:A 8691_5506_1836_G->C 0.000599042 417 chr10:129903541:G:C 8691_5483_1828_A->G 0.00299521 417 chr10:129903592:G:A 8691_5432_1811_A->V 0.0728834 417 chr10:129903710:C:T 8691_5314_1772_E->K 0.000199681 417 chr10:129903720:C:G 8691_5304_1768_R->S 0.000399361 417 chr10:129903778:T:A 8691_5246_1749_E->V 0.000399361 417 chr10:129903784:G:A 8691_5240_1747_P->L 0.000199681 417 chr10:129903802:A:G 8691_5222_1741_I->T 0.152955 417 chr10:129903814:T:C 8691_5210_1737_K->R 0.000199681 417 chr10:129903823:G:A 8691_5201_1734_T->I 0.000199681 417 chr10:129903833:C:T 8691_5191_1731_E->K 0.000599042 417 chr10:129903853:T:G 8691_5171_1724_Q->P 0.000998403 417 chr10:129903880:T:C 8691_5144_1715_D->G 0.000199681 417 chr10:129903887:G:T 8691_5137_1713_L->I 0.000998403 417 chr10:129903904:T:G 8691_5120_1707_K->T 0.000199681 417 chr10:129903922:C:T 8691_5102_1701_R->K 0.000399361 417 chr10:129904024:T:C 8691_5000_1667_Q->R 0.000199681 417 chr10:129904036:C:T 8691_4988_1663_G->E 0.00139776 417 chr10:129904071:C:A 8691_4953_1651_E->D 0.000399361 417 chr10:129904084:C:T 8691_4940_1647_G->D 0.000199681 417 chr10:129904087:A:G 8691_4937_1646_V->A 0.00179712 417 chr10:129904090:T:G 8691_4934_1645_K->T 0.000199681 417 chr10:129904094:C:T 8691_4930_1644_G->R 0.00139776 417 chr10:129904142:G:C 8691_4882_1628_P->A 0.000798722 417 chr10:129904200:C:G 8691_4824_1608_E->D 0.0105831 417 chr10:129904253:G:T 8691_4771_1591_L->I 0.00678914 417 chr10:129904273:G:T 8691_4751_1584_P->H 0.000798722 417 chr10:129904285:C:T 8691_4739_1580_R->Q 0.000199681 417 chr10:129904286:G:A 8691_4738_1580_R->W 0.00299521 417 chr10:129904288:C:T 8691_4736_1579_R->K 0.000199681 417 chr10:129904351:T:C 8691_4673_1558_N->S 0.000199681 417 chr10:129904394:T:C 8691_4630_1544_M->V 0.000199681 417 chr10:129904417:A:C 8691_4607_1536_L->R 0.000399361 417 chr10:129904427:A:G 8691_4597_1533_F->L 0.000199681 417 chr10:129904432:A:G 8691_4592_1531_L->S 0.000199681 417 chr10:129904448:C:T 8691_4576_1526_V->I 0.000199681 417 chr10:129904454:C:T 8691_4570_1524_A->T 0.000199681 417 chr10:129904474:G:A 8691_4550_1517_P->L 0.102835 417 chr10:129904477:C:T 8691_4547_1516_R->Q 0.222444 417 chr10:129904478:G:A 8691_4546_1516_R->W 0.000199681 417 chr10:129904480:T:C 8691_4544_1515_Q->R 0.000199681 417 chr10:129904516:T:A 8691_4508_1503_Q->L 0.013778 417 chr10:129904519:G:A 8691_4505_1502_P->L 0.000199681 417 chr10:129904544:T:C 8691_4480_1494_T->A 0.000199681 417 chr10:129904622:C:A 8691_4402_1468_A->S 0.000199681 417 chr10:129904637:T:C 8691_4387_1463_K->E 0.000199681 417 chr10:129904652:G:A 8691_4372_1458_R->W 0.000199681 417 chr10:129904654:C:G 8691_4370_1457_R->T 0.00459265 417 chr10:129904666:G:C 8691_4358_1453_P->R 0.000199681 417 chr10:129904688:G:C 8691_4336_1446_L->V 0.0105831 417 chr10:129904744:G:A 8691_4280_1427_P->L 0.000199681 417 chr10:129904838:T:C 8691_4186_1396_K->E 0.000199681 417 chr10:129904916:C:T 8691_4108_1370_E->K 0.000199681 417 chr10:129905041:G:A 8691_3983_1328_A->V 0.000199681 417 chr10:129905180:C:T 8691_3844_1282_V->M 0.000199681 417 chr10:129905239:G:A 8691_3785_1262_P->L 0.000798722 417 chr10:129905429:C:T 8691_3595_1199_V->M 0.102835 417 chr10:129905447:C:T 8691_3577_1193_A->T 0.000199681 417 chr10:129905482:G:T 8691_3542_1181_P->H 0.000199681 417 chr10:129905515:C:T 8691_3509_1170_R->Q 0.000399361 417 chr10:129905519:T:C 8691_3505_1169_K->E 0.000199681 417 chr10:129905575:T:C 8691_3449_1150_Q->R 0.000199681 417 chr10:129905605:G:T 8691_3419_1140_P->Q 0.000199681 417 chr10:129905612:G:A 8691_3412_1138_P->S 0.000399361 417 chr10:129905615:G:T 8691_3409_1137_Q->K 0.000199681 417 chr10:129905626:G:T 8691_3398_1133_A->D 0.0105831 417 chr10:129905640:T:G 8691_3384_1128_K->N 0.000199681 417 chr10:129905653:G:A 8691_3371_1124_T->M 0.000199681 417 chr10:129905657:G:T 8691_3367_1123_P->T 0.000199681 417 chr10:129905674:G:A 8691_3350_1117_P->L 0.000199681 417 chr10:129905759:T:C 8691_3265_1089_T->A 0.000199681 417 chr10:129905774:G:A 8691_3250_1084_P->S 0.00638978 417 chr10:129905807:C:T 8691_3217_1073_A->T 0.000199681 417 chr10:129905896:T:A 8691_3128_1043_E->V 0.139976 417 chr10:129905906:C:A 8691_3118_1040_V->L 0.00159744 417 chr10:129905950:G:T 8691_3074_1025_T->K 0.000199681 417 chr10:129906007:C:G 8691_3017_1006_G->A 0.000199681 417 chr10:129906056:T:C 8691_2968_990_K->E 0.000199681 417 chr10:129906097:G:A 8691_2927_976_P->L 0.000199681 417 chr10:129906109:C:T 8691_2915_972_R->Q 0.000199681 417 chr10:129906110:G:A 8691_2914_972_R->W 0.000399361 417 chr10:129906122:C:T 8691_2902_968_G->S 0.000199681 417 chr10:129906196:A:G 8691_2828_943_V->A 0.000199681 417 chr10:129906217:A:G 8691_2807_936_M->T 0.000199681 417 chr10:129906357:T:C 8691_2667_889_I->M 0.000199681 417 chr10:129906364:G:A 8691_2660_887_T->I 0.102835 417 chr10:129906427:C:A 8691_2597_866_G->V 0.0397364 417 chr10:129906443:G:C 8691_2581_861_L->V 0.000599042 417 chr10:129906461:T:C 8691_2563_855_K->E 0.000199681 417 chr10:129906463:G:T 8691_2561_854_P->H 0.000199681 417 chr10:129906545:T:A 8691_2479_827_I->F 0.000199681 417 chr10:129906577:G:A 8691_2447_816_T->M 0.000199681 417 chr10:129906607:A:G 8691_2417_806_L->P 0.00579073 417 chr10:129906674:T:C 8691_2350_784_K->E 0.0397364 417 chr10:129906769:G:C 8691_2255_752_P->R 0.000199681 417 chr10:129906783:C:G 8691_2241_747_E->D 0.000399361 417 chr10:129906797:C:T 8691_2227_743_A->T 0.000199681 417 chr10:129906801:G:T 8691_2223_741_D->E 0.000199681 417 chr10:129906814:T:C 8691_2210_737_Q->R 0.000199681 417 chr10:129906832:G:A 8691_2192_731_T->M 0.00199681 417 chr10:129906835:C:G 8691_2189_730_R->T 0.000199681 417 chr10:129906850:A:T 8691_2174_725_M->K 0.000199681 417 chr10:129906869:C:A 8691_2155_719_A->S 0.000199681 417 chr10:129906893:A:G 8691_2131_711_S->P 0.000199681 417 chr10:129906904:G:A 8691_2120_707_T->M 0.000199681 417 chr10:129906916:T:C 8691_2108_703_K->R 0.000199681 417 chr10:129906922:T:A 8691_2102_701_D->V 0.000199681 417 chr10:129906928:G:A 8691_2096_699_A->V 0.0131789 417 chr10:129906935:C:T 8691_2089_697_E->K 0.000199681 417 chr10:129906949:G:A 8691_2075_692_T->M 0.000199681 417 chr10:129906980:C:T 8691_2044_682_G->S 0.190495 417 chr10:129907012:T:C 8691_2012_671_K->R 0.000199681 417 chr10:129907099:A:G 8691_1925_642_I->T 0.000199681 417 chr10:129907168:G:A 8691_1856_619_T->M 0.000399361 417 chr10:129907173:T:G 8691_1851_617_K->N 0.00179712 417 chr10:129907262:T:A 8691_1762_588_M->L 0.000199681 417 chr10:129907280:C:T 8691_1744_582_D->N 0.000199681 417 chr10:129907286:C:T 8691_1738_580_E->K 0.000199681 417 chr10:129907303:T:C 8691_1721_574_E->G 0.000399361 417 chr10:129907384:C:T 8691_1640_547_R->K 0.000199681 417 chr10:129907469:T:C 8691_1555_519_T->A 0.000199681 417 chr10:129907489:G:A 8691_1535_512_A->V 0.038139 417 chr10:129907544:G:C 8691_1480_494_L->V 0.232827 417 chr10:129907610:G:A 8691_1414_472_R->W 0.0139776 417 chr10:129907631:A:T 8691_1393_465_S->T 0.000199681 417 chr10:129908770:A:T 8691_1208_403_V->E 0.000199681 417 chr10:129909971:G:A 8691_1118_373_P->L 0.000199681 417 chr10:129910001:T:C 8691_1088_363_H->R 0.000199681 417 chr10:129910047:T:C 8691_1042_348_T->A 0.000798722 417 chr10:129910064:A:G 8691_1025_342_V->A 0.000399361 417 chr10:129910068:C:T 8691_1021_341_E->K 0.000199681 417 chr10:129910248:T:C 8691_951_317_I->M 0.0 417 chr10:129910249:A:G 8691_950_317_I->T 0.000399361 417 chr10:129910252:A:C 8691_947_316_V->G 0.00259585 417 chr10:129910258:G:C 8691_941_314_T->S 0.000199681 417 chr10:129910276:C:A 8691_923_308_G->V 0.000199681 417 chr10:129910291:T:C 8691_908_303_D->G 0.000199681 417 chr10:129910423:C:T 8691_863_288_S->N 0.000199681 417 chr10:129910428:T:A 8691_858_286_R->S 0.000199681 417 chr10:129910468:C:T 8691_818_273_R->Q 0.000599042 417 chr10:129910475:T:G 8691_811_271_I->L 0.110423 417 chr10:129910511:T:C 8691_775_259_R->G 0.000199681 417 chr10:129910535:T:C 8691_751_251_T->A 0.000199681 417 chr10:129911771:G:C 8691_496_166_P->A 0.000399361 417 chr10:129911784:C:G 8691_483_161_L->F 0.000199681 417 chr10:129911818:C:T 8691_449_150_G->E 0.000399361 417 chr10:129914787:C:T 8691_368_123_R->H 0.00279553 417 chr10:129917560:T:C 8691_311_104_N->S 0.366014 417 chr10:129917563:T:C 8691_308_103_Q->R 0.000199681 417 chr10:129917575:T:C 8691_296_99_N->S 0.000199681 417 chr10:129921179:C:T 8691_253_85_G->R 0.000199681 417 chr10:129921205:A:G 8691_227_76_I->T 0.00479233 417 chr10:129921250:T:C 8691_182_61_H->R 0.000199681 417 chr10:129921357:C:T 8691_169_57_E->K 0.000199681 417 chr10:129923847:A:G 8691_85_29_F->L 0.000599042 417 chr10:129923928:A:G 8691_4_2_W->R 0.000199681 417 na12878 Variants: 417 chr10:129905896:T:A 8691_3128_1043_E->V 417 chr10:129917560:T:C 8691_311_104_N->S 417 chr10:129899578:T:C 8691_8569_2857_K->E 417 chr10:129899778:G:C 8691_8369_2790_T->S 417 chr10:129901501:G:C 8691_7523_2508_T->S 417 chr10:129901747:C:T 8691_7277_2426_R->Q 417 chr10:129902281:G:A 8691_6743_2248_P->L 417 chr10:129903016:T:C 8691_6008_2003_N->S 417 chr10:129906980:C:T 8691_2044_682_G->S 417 chr10:129907610:G:A 8691_1414_472_R->W 417 snyder Variants: 417 chr10:129899578:T:C 8691_8569_2857_K->E 417 chr10:129902281:G:A 8691_6743_2248_P->L 417 chr10:129903016:T:C 8691_6008_2003_N->S 417 chr10:129904286:G:A 8691_4738_1580_R->W 417 chr10:129907489:G:A 8691_1535_512_A->V 418 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148773_ENST00000368654 gene_Name: KI67_HUMAN 418 list of pdbs: 418 2AFF pdb_description: 25-Oct-05 NMR 100 The solution structure of the ki67fha/hnifk(226-269)3p compl 418 1R21 pdb_description: 30-Dec-03 NMR 23 Solution structure of human ki67 fha domain 418 Zimmer Variants: 418 chr10:129917560:T:C 9771_311_104_N->S;GENE=MKI67;CDSS=2;DBRECUR=MKI67 418 chr10:129899578:T:C 9771_9649_3217_K->E;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129899778:G:C 9771_9449_3150_T->S;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129901726:C:T 9771_8378_2793_S->N;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129901946:T:G 9771_8158_2720_T->P;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129902158:C:T 9771_7946_2649_R->H;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129902281:G:A 9771_7823_2608_P->L;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129903016:T:C 9771_7088_2363_N->S;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129904474:G:A 9771_5630_1877_P->L;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129904477:C:T 9771_5627_1876_R->Q;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129904654:C:G 9771_5450_1817_R->T;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129905429:C:T 9771_4675_1559_V->M;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129906364:G:A 9771_3740_1247_T->I;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129907544:G:C 9771_2560_854_L->V;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129910475:T:G 9771_1891_631_I->L;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 chr10:129911856:C:G 9771_1491_497_E->D;GENE=MKI67;CDSS=1;DBRECUR=MKI67 418 HGMD Variants: 418 chr10:129907535:T:A 9771_2569_857_K->* 418 chr10:129909975:G:A 9771_2194_732_R->* 418 oneKG Variants: 418 chr10:129913897:G:A 9771_775_259_Q->* 0.000199681 418 chr10:129899523:T:C 9771_9704_3235_K->R 0.0135783 418 chr10:129899578:T:C 9771_9649_3217_K->E 0.463658 418 chr10:129899634:A:T 9771_9593_3198_M->K 0.000199681 418 chr10:129899778:G:C 9771_9449_3150_T->S 0.423922 418 chr10:129899835:A:C 9771_9392_3131_M->R 0.000199681 418 chr10:129899836:T:A 9771_9391_3131_M->L 0.000199681 418 chr10:129899910:G:T 9771_9317_3106_T->N 0.000199681 418 chr10:129899922:T:C 9771_9305_3102_E->G 0.0870607 418 chr10:129899943:C:T 9771_9284_3095_R->H 0.000199681 418 chr10:129899952:C:T 9771_9275_3092_R->H 0.000998403 418 chr10:129900859:G:A 9771_9245_3082_S->L 0.00219649 418 chr10:129900862:T:C 9771_9242_3081_D->G 0.000199681 418 chr10:129900883:T:C 9771_9221_3074_K->R 0.000199681 418 chr10:129900889:G:C 9771_9215_3072_T->S 0.000199681 418 chr10:129900917:C:G 9771_9187_3063_E->Q 0.000199681 418 chr10:129900971:C:T 9771_9133_3045_V->M 0.000199681 418 chr10:129900986:T:C 9771_9118_3040_K->E 0.000399361 418 chr10:129901014:C:G 9771_9090_3030_K->N 0.000199681 418 chr10:129901066:C:A 9771_9038_3013_R->L 0.0317492 418 chr10:129901084:G:A 9771_9020_3007_T->M 0.00339457 418 chr10:129901124:G:C 9771_8980_2994_L->V 0.000199681 418 chr10:129901148:T:C 9771_8956_2986_K->E 0.000399361 418 chr10:129901214:G:A 9771_8890_2964_R->W 0.000399361 418 chr10:129901271:C:T 9771_8833_2945_A->T 0.000199681 418 chr10:129901285:T:A 9771_8819_2940_D->V 0.000199681 418 chr10:129901328:G:T 9771_8776_2926_Q->K 0.0135783 418 chr10:129901393:T:C 9771_8711_2904_Q->R 0.233427 418 chr10:129901432:C:T 9771_8672_2891_R->Q 0.000199681 418 chr10:129901481:G:A 9771_8623_2875_P->S 0.000199681 418 chr10:129901501:G:C 9771_8603_2868_T->S 0.180312 418 chr10:129901570:C:T 9771_8534_2845_R->H 0.0784744 418 chr10:129901571:G:A 9771_8533_2845_R->C 0.000199681 418 chr10:129901580:G:A 9771_8524_2842_P->S 0.000599042 418 chr10:129901583:G:A 9771_8521_2841_R->W 0.000199681 418 chr10:129901601:C:T 9771_8503_2835_A->T 0.000199681 418 chr10:129901654:T:C 9771_8450_2817_D->G 0.000199681 418 chr10:129901717:G:A 9771_8387_2796_A->V 0.00319489 418 chr10:129901726:C:T 9771_8378_2793_S->N 0.232228 418 chr10:129901747:C:T 9771_8357_2786_R->Q 0.179712 418 chr10:129901762:G:A 9771_8342_2781_T->I 0.00539137 418 chr10:129901802:C:T 9771_8302_2768_E->K 0.000199681 418 chr10:129901825:T:C 9771_8279_2760_D->G 0.232029 418 chr10:129901853:C:T 9771_8251_2751_D->N 0.000998403 418 chr10:129901877:T:G 9771_8227_2743_T->P 0.000599042 418 chr10:129901942:T:C 9771_8162_2721_K->R 0.000199681 418 chr10:129901946:T:G 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chr10:129905626:G:T 9771_4478_1493_A->D 0.0105831 418 chr10:129905640:T:G 9771_4464_1488_K->N 0.000199681 418 chr10:129905653:G:A 9771_4451_1484_T->M 0.000199681 418 chr10:129905657:G:T 9771_4447_1483_P->T 0.000199681 418 chr10:129905674:G:A 9771_4430_1477_P->L 0.000199681 418 chr10:129905759:T:C 9771_4345_1449_T->A 0.000199681 418 chr10:129905774:G:A 9771_4330_1444_P->S 0.00638978 418 chr10:129905807:C:T 9771_4297_1433_A->T 0.000199681 418 chr10:129905896:T:A 9771_4208_1403_E->V 0.139976 418 chr10:129905906:C:A 9771_4198_1400_V->L 0.00159744 418 chr10:129905950:G:T 9771_4154_1385_T->K 0.000199681 418 chr10:129906007:C:G 9771_4097_1366_G->A 0.000199681 418 chr10:129906056:T:C 9771_4048_1350_K->E 0.000199681 418 chr10:129906097:G:A 9771_4007_1336_P->L 0.000199681 418 chr10:129906109:C:T 9771_3995_1332_R->Q 0.000199681 418 chr10:129906110:G:A 9771_3994_1332_R->W 0.000399361 418 chr10:129906122:C:T 9771_3982_1328_G->S 0.000199681 418 chr10:129906196:A:G 9771_3908_1303_V->A 0.000199681 418 chr10:129906217:A:G 9771_3887_1296_M->T 0.000199681 418 chr10:129906357:T:C 9771_3747_1249_I->M 0.000199681 418 chr10:129906364:G:A 9771_3740_1247_T->I 0.102835 418 chr10:129906427:C:A 9771_3677_1226_G->V 0.0397364 418 chr10:129906443:G:C 9771_3661_1221_L->V 0.000599042 418 chr10:129906461:T:C 9771_3643_1215_K->E 0.000199681 418 chr10:129906463:G:T 9771_3641_1214_P->H 0.000199681 418 chr10:129906545:T:A 9771_3559_1187_I->F 0.000199681 418 chr10:129906577:G:A 9771_3527_1176_T->M 0.000199681 418 chr10:129906607:A:G 9771_3497_1166_L->P 0.00579073 418 chr10:129906674:T:C 9771_3430_1144_K->E 0.0397364 418 chr10:129906769:G:C 9771_3335_1112_P->R 0.000199681 418 chr10:129906783:C:G 9771_3321_1107_E->D 0.000399361 418 chr10:129906797:C:T 9771_3307_1103_A->T 0.000199681 418 chr10:129906801:G:T 9771_3303_1101_D->E 0.000199681 418 chr10:129906814:T:C 9771_3290_1097_Q->R 0.000199681 418 chr10:129906832:G:A 9771_3272_1091_T->M 0.00199681 418 chr10:129906835:C:G 9771_3269_1090_R->T 0.000199681 418 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chr10:129907384:C:T 9771_2720_907_R->K 0.000199681 418 chr10:129907469:T:C 9771_2635_879_T->A 0.000199681 418 chr10:129907489:G:A 9771_2615_872_A->V 0.038139 418 chr10:129907544:G:C 9771_2560_854_L->V 0.232827 418 chr10:129907610:G:A 9771_2494_832_R->W 0.0139776 418 chr10:129907631:A:T 9771_2473_825_S->T 0.000199681 418 chr10:129908770:A:T 9771_2288_763_V->E 0.000199681 418 chr10:129909971:G:A 9771_2198_733_P->L 0.000199681 418 chr10:129910001:T:C 9771_2168_723_H->R 0.000199681 418 chr10:129910047:T:C 9771_2122_708_T->A 0.000798722 418 chr10:129910064:A:G 9771_2105_702_V->A 0.000399361 418 chr10:129910068:C:T 9771_2101_701_E->K 0.000199681 418 chr10:129910248:T:C 9771_2031_677_I->M 0.0 418 chr10:129910249:A:G 9771_2030_677_I->T 0.000399361 418 chr10:129910252:A:C 9771_2027_676_V->G 0.00259585 418 chr10:129910258:G:C 9771_2021_674_T->S 0.000199681 418 chr10:129910276:C:A 9771_2003_668_G->V 0.000199681 418 chr10:129910291:T:C 9771_1988_663_D->G 0.000199681 418 chr10:129910423:C:T 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9771_945_315_Q->H 0.000399361 418 chr10:129913762:C:T 9771_910_304_A->T 0.000199681 418 chr10:129913803:C:T 9771_869_290_R->H 0.00239617 418 chr10:129913806:G:A 9771_866_289_S->L 0.000199681 418 chr10:129913837:C:G 9771_835_279_G->R 0.000199681 418 chr10:129913870:T:A 9771_802_268_T->S 0.000199681 418 chr10:129913888:T:C 9771_784_262_R->G 0.000199681 418 chr10:129913960:A:T 9771_712_238_W->R 0.253395 418 chr10:129913986:T:G 9771_686_229_N->T 0.000199681 418 chr10:129914001:G:A 9771_671_224_T->I 0.000199681 418 chr10:129914017:T:G 9771_655_219_K->Q 0.00119808 418 chr10:129914025:C:T 9771_647_216_G->E 0.00499201 418 chr10:129914162:G:C 9771_510_170_D->E 0.000798722 418 chr10:129914199:T:C 9771_473_158_H->R 0.000399361 418 chr10:129914787:C:T 9771_368_123_R->H 0.00279553 418 chr10:129917560:T:C 9771_311_104_N->S 0.366014 418 chr10:129917563:T:C 9771_308_103_Q->R 0.000199681 418 chr10:129917575:T:C 9771_296_99_N->S 0.000199681 418 chr10:129921179:C:T 9771_253_85_G->R 0.000199681 418 chr10:129921205:A:G 9771_227_76_I->T 0.00479233 418 chr10:129921250:T:C 9771_182_61_H->R 0.000199681 418 chr10:129921357:C:T 9771_169_57_E->K 0.000199681 418 chr10:129923847:A:G 9771_85_29_F->L 0.000599042 418 chr10:129923928:A:G 9771_4_2_W->R 0.000199681 418 na12878 Variants: 418 chr10:129905896:T:A 9771_4208_1403_E->V 418 chr10:129917560:T:C 9771_311_104_N->S 418 chr10:129899578:T:C 9771_9649_3217_K->E 418 chr10:129899778:G:C 9771_9449_3150_T->S 418 chr10:129901501:G:C 9771_8603_2868_T->S 418 chr10:129901747:C:T 9771_8357_2786_R->Q 418 chr10:129902281:G:A 9771_7823_2608_P->L 418 chr10:129903016:T:C 9771_7088_2363_N->S 418 chr10:129906980:C:T 9771_3124_1042_G->S 418 chr10:129907610:G:A 9771_2494_832_R->W 418 snyder Variants: 418 chr10:129914162:G:C 9771_510_170_D->E 418 chr10:129899578:T:C 9771_9649_3217_K->E 418 chr10:129902281:G:A 9771_7823_2608_P->L 418 chr10:129903016:T:C 9771_7088_2363_N->S 418 chr10:129904286:G:A 9771_5818_1940_R->W 418 chr10:129907489:G:A 9771_2615_872_A->V 419 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000263036 gene_Name: OPTN_HUMAN 419 list of pdbs: 419 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 419 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 419 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 419 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 419 Zimmer Variants: 419 chr10:13166076:A:G 1734_964_322_K->E 419 HGMD Variants: 419 chr10:13151189:G:T 1734_67_23_G->* 419 chr10:13154576:C:T 1734_493_165_Q->* 419 chr10:13167989:C:T 1734_1192_398_Q->* 419 chr10:13151129:C:T 1734_7_3_H->Y 419 chr10:13151168:C:G 1734_46_16_P->A 419 chr10:13151198:C:G 1734_76_26_H->D 419 chr10:13151270:G:A 1734_148_50_E->K 419 chr10:13151282:C:G 1734_160_54_L->V 419 chr10:13152325:C:T 1734_218_73_S->L 419 chr10:13152384:G:C 1734_277_93_A->P 419 chr10:13152394:G:T 1734_287_96_R->L 419 chr10:13152400:T:A 1734_293_98_M->K 419 chr10:13152416:G:C 1734_309_103_E->D 419 chr10:13154564:G:A 1734_481_161_V->M 419 chr10:13158319:C:G 1734_605_202_T->R 419 chr10:13164449:A:C 1734_844_282_T->P 419 chr10:13166053:A:T 1734_941_314_Q->L 419 chr10:13166076:A:G 1734_964_322_K->E 419 chr10:13167426:C:G 1734_1007_336_A->G 419 chr10:13167548:G:A 1734_1129_377_A->T 419 chr10:13167989:C:G 1734_1192_398_Q->E 419 chr10:13169806:A:G 1734_1304_435_K->R 419 chr10:13169842:T:G 1734_1340_447_M->R 419 chr10:13169862:C:G 1734_1360_454_Q->E 419 chr10:13174098:A:G 1734_1433_478_E->G 419 chr10:13174107:C:T 1734_1442_481_A->V 419 chr10:13174122:A:G 1734_1457_486_H->R 419 chr10:13174146:T:G 1734_1481_494_L->W 419 chr10:13174164:T:C 1734_1499_500_L->P 419 chr10:13178766:G:A 1734_1634_545_R->Q 419 chr10:13178802:A:C 1734_1670_557_K->T 419 chr10:13178835:T:C 1734_1703_568_L->S 419 oneKG Variants: 419 chr10:13151153:G:A 1734_31_11_E->K 0.000798722 419 chr10:13151232:C:T 1734_110_37_P->L 0.000199681 419 chr10:13152338:G:C 1734_231_77_E->D 0.000199681 419 chr10:13152393:C:T 1734_286_96_R->C 0.000199681 419 chr10:13152394:G:A 1734_287_96_R->H 0.000199681 419 chr10:13152400:T:A 1734_293_98_M->K 0.0786741 419 chr10:13152474:G:A 1734_367_123_E->K 0.000199681 419 chr10:13154487:A:C 1734_404_135_E->A 0.000199681 419 chr10:13154523:T:C 1734_440_147_V->A 0.000399361 419 chr10:13160939:C:G 1734_678_226_F->L 0.000199681 419 chr10:13160940:G:A 1734_679_227_E->K 0.000599042 419 chr10:13161038:A:T 1734_777_259_E->D 0.000798722 419 chr10:13164462:A:G 1734_857_286_N->S 0.000199681 419 chr10:13166021:C:A 1734_909_303_N->K 0.000599042 419 chr10:13166076:A:G 1734_964_322_K->E 0.006589 419 chr10:13168017:T:C 1734_1220_407_I->T 0.000199681 419 chr10:13169762:G:C 1734_1260_420_R->S 0.000199681 419 chr10:13169821:A:G 1734_1319_440_K->R 0.000199681 419 chr10:13169898:G:T 1734_1396_466_A->S 0.000199681 419 chr10:13174184:G:A 1734_1519_507_E->K 0.000199681 419 chr10:13174190:G:A 1734_1525_509_G->R 0.000199681 419 chr10:13175528:G:A 1734_1559_520_R->H 0.000199681 419 chr10:13178766:G:A 1734_1634_545_R->Q 0.00758786 419 chr10:13178775:G:A 1734_1643_548_R->Q 0.000199681 419 chr10:13178862:T:C 1734_1730_577_I->T 0.000199681 419 na12878 Variants: 419 chr10:13166076:A:G 1734_964_322_K->E 419 snyder Variants: 419 chr10:13166076:A:G 1734_964_322_K->E 420 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000378764 gene_Name: OPTN_HUMAN 420 list of pdbs: 420 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 420 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 420 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 420 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 420 Zimmer Variants: 420 chr10:13166076:A:G 1716_946_316_K->E;GENE=OPTN;CDSS=2 420 HGMD Variants: 420 chr10:13151189:G:T 1716_67_23_G->* 420 chr10:13154576:C:T 1716_493_165_Q->* 420 chr10:13167989:C:T 1716_1174_392_Q->* 420 chr10:13151129:C:T 1716_7_3_H->Y 420 chr10:13151168:C:G 1716_46_16_P->A 420 chr10:13151198:C:G 1716_76_26_H->D 420 chr10:13151270:G:A 1716_148_50_E->K 420 chr10:13151282:C:G 1716_160_54_L->V 420 chr10:13152325:C:T 1716_218_73_S->L 420 chr10:13152384:G:C 1716_277_93_A->P 420 chr10:13152394:G:T 1716_287_96_R->L 420 chr10:13152400:T:A 1716_293_98_M->K 420 chr10:13152416:G:C 1716_309_103_E->D 420 chr10:13154564:G:A 1716_481_161_V->M 420 chr10:13158319:C:G 1716_605_202_T->R 420 chr10:13164449:A:C 1716_826_276_T->P 420 chr10:13166053:A:T 1716_923_308_Q->L 420 chr10:13166076:A:G 1716_946_316_K->E 420 chr10:13167426:C:G 1716_989_330_A->G 420 chr10:13167548:G:A 1716_1111_371_A->T 420 chr10:13167989:C:G 1716_1174_392_Q->E 420 chr10:13169806:A:G 1716_1286_429_K->R 420 chr10:13169842:T:G 1716_1322_441_M->R 420 chr10:13169862:C:G 1716_1342_448_Q->E 420 chr10:13174098:A:G 1716_1415_472_E->G 420 chr10:13174107:C:T 1716_1424_475_A->V 420 chr10:13174122:A:G 1716_1439_480_H->R 420 chr10:13174146:T:G 1716_1463_488_L->W 420 chr10:13174164:T:C 1716_1481_494_L->P 420 chr10:13178766:G:A 1716_1616_539_R->Q 420 chr10:13178802:A:C 1716_1652_551_K->T 420 chr10:13178835:T:C 1716_1685_562_L->S 420 oneKG Variants: 420 chr10:13151153:G:A 1716_31_11_E->K 0.000798722 420 chr10:13151232:C:T 1716_110_37_P->L 0.000199681 420 chr10:13152338:G:C 1716_231_77_E->D 0.000199681 420 chr10:13152393:C:T 1716_286_96_R->C 0.000199681 420 chr10:13152394:G:A 1716_287_96_R->H 0.000199681 420 chr10:13152400:T:A 1716_293_98_M->K 0.0786741 420 chr10:13152474:G:A 1716_367_123_E->K 0.000199681 420 chr10:13154487:A:C 1716_404_135_E->A 0.000199681 420 chr10:13154523:T:C 1716_440_147_V->A 0.000399361 420 chr10:13160939:C:G 1716_660_220_F->L 0.000199681 420 chr10:13160940:G:A 1716_661_221_E->K 0.000599042 420 chr10:13161038:A:T 1716_759_253_E->D 0.000798722 420 chr10:13164462:A:G 1716_839_280_N->S 0.000199681 420 chr10:13166021:C:A 1716_891_297_N->K 0.000599042 420 chr10:13166076:A:G 1716_946_316_K->E 0.006589 420 chr10:13168017:T:C 1716_1202_401_I->T 0.000199681 420 chr10:13169762:G:C 1716_1242_414_R->S 0.000199681 420 chr10:13169821:A:G 1716_1301_434_K->R 0.000199681 420 chr10:13169898:G:T 1716_1378_460_A->S 0.000199681 420 chr10:13174184:G:A 1716_1501_501_E->K 0.000199681 420 chr10:13174190:G:A 1716_1507_503_G->R 0.000199681 420 chr10:13175528:G:A 1716_1541_514_R->H 0.000199681 420 chr10:13178766:G:A 1716_1616_539_R->Q 0.00758786 420 chr10:13178775:G:A 1716_1625_542_R->Q 0.000199681 420 chr10:13178862:T:C 1716_1712_571_I->T 0.000199681 420 na12878 Variants: 420 chr10:13166076:A:G 1716_946_316_K->E 420 snyder Variants: 420 chr10:13166076:A:G 1716_946_316_K->E 421 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000378757 gene_Name: OPTN_HUMAN 421 list of pdbs: 421 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 421 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 421 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 421 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 421 Zimmer Variants: 421 chr10:13166076:A:G 1734_964_322_K->E 421 HGMD Variants: 421 chr10:13151189:G:T 1734_67_23_G->* 421 chr10:13154576:C:T 1734_493_165_Q->* 421 chr10:13167989:C:T 1734_1192_398_Q->* 421 chr10:13151129:C:T 1734_7_3_H->Y 421 chr10:13151168:C:G 1734_46_16_P->A 421 chr10:13151198:C:G 1734_76_26_H->D 421 chr10:13151270:G:A 1734_148_50_E->K 421 chr10:13151282:C:G 1734_160_54_L->V 421 chr10:13152325:C:T 1734_218_73_S->L 421 chr10:13152384:G:C 1734_277_93_A->P 421 chr10:13152394:G:T 1734_287_96_R->L 421 chr10:13152400:T:A 1734_293_98_M->K 421 chr10:13152416:G:C 1734_309_103_E->D 421 chr10:13154564:G:A 1734_481_161_V->M 421 chr10:13158319:C:G 1734_605_202_T->R 421 chr10:13164449:A:C 1734_844_282_T->P 421 chr10:13166053:A:T 1734_941_314_Q->L 421 chr10:13166076:A:G 1734_964_322_K->E 421 chr10:13167426:C:G 1734_1007_336_A->G 421 chr10:13167548:G:A 1734_1129_377_A->T 421 chr10:13167989:C:G 1734_1192_398_Q->E 421 chr10:13169806:A:G 1734_1304_435_K->R 421 chr10:13169842:T:G 1734_1340_447_M->R 421 chr10:13169862:C:G 1734_1360_454_Q->E 421 chr10:13174098:A:G 1734_1433_478_E->G 421 chr10:13174107:C:T 1734_1442_481_A->V 421 chr10:13174122:A:G 1734_1457_486_H->R 421 chr10:13174146:T:G 1734_1481_494_L->W 421 chr10:13174164:T:C 1734_1499_500_L->P 421 chr10:13178766:G:A 1734_1634_545_R->Q 421 chr10:13178802:A:C 1734_1670_557_K->T 421 chr10:13178835:T:C 1734_1703_568_L->S 421 oneKG Variants: 421 chr10:13151153:G:A 1734_31_11_E->K 0.000798722 421 chr10:13151232:C:T 1734_110_37_P->L 0.000199681 421 chr10:13152338:G:C 1734_231_77_E->D 0.000199681 421 chr10:13152393:C:T 1734_286_96_R->C 0.000199681 421 chr10:13152394:G:A 1734_287_96_R->H 0.000199681 421 chr10:13152400:T:A 1734_293_98_M->K 0.0786741 421 chr10:13152474:G:A 1734_367_123_E->K 0.000199681 421 chr10:13154487:A:C 1734_404_135_E->A 0.000199681 421 chr10:13154523:T:C 1734_440_147_V->A 0.000399361 421 chr10:13160939:C:G 1734_678_226_F->L 0.000199681 421 chr10:13160940:G:A 1734_679_227_E->K 0.000599042 421 chr10:13161038:A:T 1734_777_259_E->D 0.000798722 421 chr10:13164462:A:G 1734_857_286_N->S 0.000199681 421 chr10:13166021:C:A 1734_909_303_N->K 0.000599042 421 chr10:13166076:A:G 1734_964_322_K->E 0.006589 421 chr10:13168017:T:C 1734_1220_407_I->T 0.000199681 421 chr10:13169762:G:C 1734_1260_420_R->S 0.000199681 421 chr10:13169821:A:G 1734_1319_440_K->R 0.000199681 421 chr10:13169898:G:T 1734_1396_466_A->S 0.000199681 421 chr10:13174184:G:A 1734_1519_507_E->K 0.000199681 421 chr10:13174190:G:A 1734_1525_509_G->R 0.000199681 421 chr10:13175528:G:A 1734_1559_520_R->H 0.000199681 421 chr10:13178766:G:A 1734_1634_545_R->Q 0.00758786 421 chr10:13178775:G:A 1734_1643_548_R->Q 0.000199681 421 chr10:13178862:T:C 1734_1730_577_I->T 0.000199681 421 na12878 Variants: 421 chr10:13166076:A:G 1734_964_322_K->E 421 snyder Variants: 421 chr10:13166076:A:G 1734_964_322_K->E 422 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000378752 gene_Name: OPTN_HUMAN 422 list of pdbs: 422 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 422 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 422 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 422 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 422 Zimmer Variants: 422 chr10:13166076:A:G 1716_946_316_K->E 422 HGMD Variants: 422 chr10:13151189:G:T 1716_67_23_G->* 422 chr10:13154576:C:T 1716_493_165_Q->* 422 chr10:13167989:C:T 1716_1174_392_Q->* 422 chr10:13151129:C:T 1716_7_3_H->Y 422 chr10:13151168:C:G 1716_46_16_P->A 422 chr10:13151198:C:G 1716_76_26_H->D 422 chr10:13151270:G:A 1716_148_50_E->K 422 chr10:13151282:C:G 1716_160_54_L->V 422 chr10:13152325:C:T 1716_218_73_S->L 422 chr10:13152384:G:C 1716_277_93_A->P 422 chr10:13152394:G:T 1716_287_96_R->L 422 chr10:13152400:T:A 1716_293_98_M->K 422 chr10:13152416:G:C 1716_309_103_E->D 422 chr10:13154564:G:A 1716_481_161_V->M 422 chr10:13158319:C:G 1716_605_202_T->R 422 chr10:13164449:A:C 1716_826_276_T->P 422 chr10:13166053:A:T 1716_923_308_Q->L 422 chr10:13166076:A:G 1716_946_316_K->E 422 chr10:13167426:C:G 1716_989_330_A->G 422 chr10:13167548:G:A 1716_1111_371_A->T 422 chr10:13167989:C:G 1716_1174_392_Q->E 422 chr10:13169806:A:G 1716_1286_429_K->R 422 chr10:13169842:T:G 1716_1322_441_M->R 422 chr10:13169862:C:G 1716_1342_448_Q->E 422 chr10:13174098:A:G 1716_1415_472_E->G 422 chr10:13174107:C:T 1716_1424_475_A->V 422 chr10:13174122:A:G 1716_1439_480_H->R 422 chr10:13174146:T:G 1716_1463_488_L->W 422 chr10:13174164:T:C 1716_1481_494_L->P 422 chr10:13178766:G:A 1716_1616_539_R->Q 422 chr10:13178802:A:C 1716_1652_551_K->T 422 chr10:13178835:T:C 1716_1685_562_L->S 422 oneKG Variants: 422 chr10:13151153:G:A 1716_31_11_E->K 0.000798722 422 chr10:13151232:C:T 1716_110_37_P->L 0.000199681 422 chr10:13152338:G:C 1716_231_77_E->D 0.000199681 422 chr10:13152393:C:T 1716_286_96_R->C 0.000199681 422 chr10:13152394:G:A 1716_287_96_R->H 0.000199681 422 chr10:13152400:T:A 1716_293_98_M->K 0.0786741 422 chr10:13152474:G:A 1716_367_123_E->K 0.000199681 422 chr10:13154487:A:C 1716_404_135_E->A 0.000199681 422 chr10:13154523:T:C 1716_440_147_V->A 0.000399361 422 chr10:13160939:C:G 1716_660_220_F->L 0.000199681 422 chr10:13160940:G:A 1716_661_221_E->K 0.000599042 422 chr10:13161038:A:T 1716_759_253_E->D 0.000798722 422 chr10:13164462:A:G 1716_839_280_N->S 0.000199681 422 chr10:13166021:C:A 1716_891_297_N->K 0.000599042 422 chr10:13166076:A:G 1716_946_316_K->E 0.006589 422 chr10:13168017:T:C 1716_1202_401_I->T 0.000199681 422 chr10:13169762:G:C 1716_1242_414_R->S 0.000199681 422 chr10:13169821:A:G 1716_1301_434_K->R 0.000199681 422 chr10:13169898:G:T 1716_1378_460_A->S 0.000199681 422 chr10:13174184:G:A 1716_1501_501_E->K 0.000199681 422 chr10:13174190:G:A 1716_1507_503_G->R 0.000199681 422 chr10:13175528:G:A 1716_1541_514_R->H 0.000199681 422 chr10:13178766:G:A 1716_1616_539_R->Q 0.00758786 422 chr10:13178775:G:A 1716_1625_542_R->Q 0.000199681 422 chr10:13178862:T:C 1716_1712_571_I->T 0.000199681 422 na12878 Variants: 422 chr10:13166076:A:G 1716_946_316_K->E 422 snyder Variants: 422 chr10:13166076:A:G 1716_946_316_K->E 423 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000378748 gene_Name: OPTN_HUMAN 423 list of pdbs: 423 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 423 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 423 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 423 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 423 Zimmer Variants: 423 chr10:13166076:A:G 1734_964_322_K->E 423 HGMD Variants: 423 chr10:13151189:G:T 1734_67_23_G->* 423 chr10:13154576:C:T 1734_493_165_Q->* 423 chr10:13167989:C:T 1734_1192_398_Q->* 423 chr10:13151129:C:T 1734_7_3_H->Y 423 chr10:13151168:C:G 1734_46_16_P->A 423 chr10:13151198:C:G 1734_76_26_H->D 423 chr10:13151270:G:A 1734_148_50_E->K 423 chr10:13151282:C:G 1734_160_54_L->V 423 chr10:13152325:C:T 1734_218_73_S->L 423 chr10:13152384:G:C 1734_277_93_A->P 423 chr10:13152394:G:T 1734_287_96_R->L 423 chr10:13152400:T:A 1734_293_98_M->K 423 chr10:13152416:G:C 1734_309_103_E->D 423 chr10:13154564:G:A 1734_481_161_V->M 423 chr10:13158319:C:G 1734_605_202_T->R 423 chr10:13164449:A:C 1734_844_282_T->P 423 chr10:13166053:A:T 1734_941_314_Q->L 423 chr10:13166076:A:G 1734_964_322_K->E 423 chr10:13167426:C:G 1734_1007_336_A->G 423 chr10:13167548:G:A 1734_1129_377_A->T 423 chr10:13167989:C:G 1734_1192_398_Q->E 423 chr10:13169806:A:G 1734_1304_435_K->R 423 chr10:13169842:T:G 1734_1340_447_M->R 423 chr10:13169862:C:G 1734_1360_454_Q->E 423 chr10:13174098:A:G 1734_1433_478_E->G 423 chr10:13174107:C:T 1734_1442_481_A->V 423 chr10:13174122:A:G 1734_1457_486_H->R 423 chr10:13174146:T:G 1734_1481_494_L->W 423 chr10:13174164:T:C 1734_1499_500_L->P 423 chr10:13178766:G:A 1734_1634_545_R->Q 423 chr10:13178802:A:C 1734_1670_557_K->T 423 chr10:13178835:T:C 1734_1703_568_L->S 423 oneKG Variants: 423 chr10:13151153:G:A 1734_31_11_E->K 0.000798722 423 chr10:13151232:C:T 1734_110_37_P->L 0.000199681 423 chr10:13152338:G:C 1734_231_77_E->D 0.000199681 423 chr10:13152393:C:T 1734_286_96_R->C 0.000199681 423 chr10:13152394:G:A 1734_287_96_R->H 0.000199681 423 chr10:13152400:T:A 1734_293_98_M->K 0.0786741 423 chr10:13152474:G:A 1734_367_123_E->K 0.000199681 423 chr10:13154487:A:C 1734_404_135_E->A 0.000199681 423 chr10:13154523:T:C 1734_440_147_V->A 0.000399361 423 chr10:13160939:C:G 1734_678_226_F->L 0.000199681 423 chr10:13160940:G:A 1734_679_227_E->K 0.000599042 423 chr10:13161038:A:T 1734_777_259_E->D 0.000798722 423 chr10:13164462:A:G 1734_857_286_N->S 0.000199681 423 chr10:13166021:C:A 1734_909_303_N->K 0.000599042 423 chr10:13166076:A:G 1734_964_322_K->E 0.006589 423 chr10:13168017:T:C 1734_1220_407_I->T 0.000199681 423 chr10:13169762:G:C 1734_1260_420_R->S 0.000199681 423 chr10:13169821:A:G 1734_1319_440_K->R 0.000199681 423 chr10:13169898:G:T 1734_1396_466_A->S 0.000199681 423 chr10:13174184:G:A 1734_1519_507_E->K 0.000199681 423 chr10:13174190:G:A 1734_1525_509_G->R 0.000199681 423 chr10:13175528:G:A 1734_1559_520_R->H 0.000199681 423 chr10:13178766:G:A 1734_1634_545_R->Q 0.00758786 423 chr10:13178775:G:A 1734_1643_548_R->Q 0.000199681 423 chr10:13178862:T:C 1734_1730_577_I->T 0.000199681 423 na12878 Variants: 423 chr10:13166076:A:G 1734_964_322_K->E 423 snyder Variants: 423 chr10:13166076:A:G 1734_964_322_K->E 424 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123240_ENST00000378747 gene_Name: OPTN_HUMAN 424 list of pdbs: 424 2LO4 pdb_description: 23-Jan-13 NMR 10 Nmr solution structure of optineurin zinc-finger domain 424 3VTW pdb_description: 26-Jun-13 X-ray 2.520 Crystal structure of t7-tagged optineurin lir-fused human lc 424 3VTV pdb_description: 26-Jun-13 X-ray 1.700 Crystal structure of optineurin lir-fused human lc3b_2-119 424 2LUE pdb_description: 17-Jul-13 NMR 20 Lc3b optn-lir ptot complex structure 424 Zimmer Variants: 424 chr10:13166076:A:G 1734_964_322_K->E 424 HGMD Variants: 424 chr10:13151189:G:T 1734_67_23_G->* 424 chr10:13154576:C:T 1734_493_165_Q->* 424 chr10:13167989:C:T 1734_1192_398_Q->* 424 chr10:13151129:C:T 1734_7_3_H->Y 424 chr10:13151168:C:G 1734_46_16_P->A 424 chr10:13151198:C:G 1734_76_26_H->D 424 chr10:13151270:G:A 1734_148_50_E->K 424 chr10:13151282:C:G 1734_160_54_L->V 424 chr10:13152325:C:T 1734_218_73_S->L 424 chr10:13152384:G:C 1734_277_93_A->P 424 chr10:13152394:G:T 1734_287_96_R->L 424 chr10:13152400:T:A 1734_293_98_M->K 424 chr10:13152416:G:C 1734_309_103_E->D 424 chr10:13154564:G:A 1734_481_161_V->M 424 chr10:13158319:C:G 1734_605_202_T->R 424 chr10:13164449:A:C 1734_844_282_T->P 424 chr10:13166053:A:T 1734_941_314_Q->L 424 chr10:13166076:A:G 1734_964_322_K->E 424 chr10:13167426:C:G 1734_1007_336_A->G 424 chr10:13167548:G:A 1734_1129_377_A->T 424 chr10:13167989:C:G 1734_1192_398_Q->E 424 chr10:13169806:A:G 1734_1304_435_K->R 424 chr10:13169842:T:G 1734_1340_447_M->R 424 chr10:13169862:C:G 1734_1360_454_Q->E 424 chr10:13174098:A:G 1734_1433_478_E->G 424 chr10:13174107:C:T 1734_1442_481_A->V 424 chr10:13174122:A:G 1734_1457_486_H->R 424 chr10:13174146:T:G 1734_1481_494_L->W 424 chr10:13174164:T:C 1734_1499_500_L->P 424 chr10:13178766:G:A 1734_1634_545_R->Q 424 chr10:13178802:A:C 1734_1670_557_K->T 424 chr10:13178835:T:C 1734_1703_568_L->S 424 oneKG Variants: 424 chr10:13151153:G:A 1734_31_11_E->K 0.000798722 424 chr10:13151232:C:T 1734_110_37_P->L 0.000199681 424 chr10:13152338:G:C 1734_231_77_E->D 0.000199681 424 chr10:13152393:C:T 1734_286_96_R->C 0.000199681 424 chr10:13152394:G:A 1734_287_96_R->H 0.000199681 424 chr10:13152400:T:A 1734_293_98_M->K 0.0786741 424 chr10:13152474:G:A 1734_367_123_E->K 0.000199681 424 chr10:13154487:A:C 1734_404_135_E->A 0.000199681 424 chr10:13154523:T:C 1734_440_147_V->A 0.000399361 424 chr10:13160939:C:G 1734_678_226_F->L 0.000199681 424 chr10:13160940:G:A 1734_679_227_E->K 0.000599042 424 chr10:13161038:A:T 1734_777_259_E->D 0.000798722 424 chr10:13164462:A:G 1734_857_286_N->S 0.000199681 424 chr10:13166021:C:A 1734_909_303_N->K 0.000599042 424 chr10:13166076:A:G 1734_964_322_K->E 0.006589 424 chr10:13168017:T:C 1734_1220_407_I->T 0.000199681 424 chr10:13169762:G:C 1734_1260_420_R->S 0.000199681 424 chr10:13169821:A:G 1734_1319_440_K->R 0.000199681 424 chr10:13169898:G:T 1734_1396_466_A->S 0.000199681 424 chr10:13174184:G:A 1734_1519_507_E->K 0.000199681 424 chr10:13174190:G:A 1734_1525_509_G->R 0.000199681 424 chr10:13175528:G:A 1734_1559_520_R->H 0.000199681 424 chr10:13178766:G:A 1734_1634_545_R->Q 0.00758786 424 chr10:13178775:G:A 1734_1643_548_R->Q 0.000199681 424 chr10:13178862:T:C 1734_1730_577_I->T 0.000199681 424 na12878 Variants: 424 chr10:13166076:A:G 1734_964_322_K->E 424 snyder Variants: 424 chr10:13166076:A:G 1734_964_322_K->E 425 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000107611_ENST00000377833 gene_Name: CUBN_HUMAN 425 list of pdbs: 425 3KQ4 pdb_description: 09-Mar-10 X-ray 3.300 Structure of intrinsic factor-cobalamin bound to its recepto 425 Zimmer Variants: 425 chr10:17156151:A:G 10872_758_253_F->S;GENE=CUBN;CDSS=2;DBRECUR=CUBN 425 chr10:16979714:T:C 10872_5803_1935_S->G;GENE=CUBN;CDSS=1;DBRECUR=CUBN 425 chr10:17024503:G:A 10872_4675_1559_P->S;GENE=CUBN;CDSS=1;DBRECUR=CUBN 425 chr10:17147521:G:T 10872_1165_389_P->T;GENE=CUBN;CDSS=1;DBRECUR=CUBN 425 HGMD Variants: 425 chr10:17083050:G:T 10872_3999_1333_C->* 425 chr10:17107590:G:C 10872_3056_1019_S->* 425 chr10:17110122:G:T 10872_2949_983_Y->* 425 chr10:17110722:G:T 10872_2673_891_C->* 425 chr10:17127755:G:A 10872_1951_651_R->* 425 chr10:17145218:G:C 10872_1436_479_S->* 425 chr10:17153044:G:A 10872_889_297_Q->* 425 chr10:17171122:G:A 10872_250_84_Q->* 425 chr10:16919052:T:C 10872_8950_2984_I->V 425 chr10:17061832:C:T 10872_4168_1390_G->S 425 chr10:17061885:G:C 10872_4115_1372_T->R 425 chr10:17083159:G:A 10872_3890_1297_P->L 425 chr10:17085906:G:A 10872_3749_1250_S->F 425 chr10:17087101:A:C 10872_3577_1193_W->G 425 chr10:17088088:C:T 10872_3335_1112_G->E 425 chr10:17113456:C:T 10872_2594_865_S->N 425 chr10:17113564:G:A 10872_2486_829_S->L 425 chr10:17127638:T:C 10872_2068_690_I->V 425 chr10:17127755:G:C 10872_1951_651_R->G 425 chr10:17152923:G:A 10872_1010_337_P->L 425 chr10:17157517:A:T 10872_673_225_C->S 425 chr10:17165642:C:T 10872_434_145_G->E 425 oneKG Variants: 425 chr10:16873317:G:A 10872_10462_3488_R->* 0.000199681 425 chr10:16893373:G:T 10872_9524_3175_S->* 0.000199681 425 chr10:16916444:G:T 10872_9165_3055_Y->* 0.000199681 425 chr10:16948208:G:A 10872_7906_2636_R->* 0.000199681 425 chr10:16957052:G:A 10872_7330_2444_R->* 0.000199681 425 chr10:16967686:C:T 10872_6359_2120_W->* 0.000199681 425 chr10:17024489:A:T 10872_4689_1563_C->* 0.000998403 425 chr10:16867000:C:T 10872_10846_3616_A->T 0.000199681 425 chr10:16870809:C:T 10872_10759_3587_G->R 0.000998403 425 chr10:16870839:C:T 10872_10729_3577_A->T 0.000798722 425 chr10:16870902:T:C 10872_10666_3556_I->V 0.000199681 425 chr10:16870912:G:A,T 10872_10656_3552_N->K 0.00599042 425 chr10:16873287:G:A 10872_10492_3498_R->C 0.000199681 425 chr10:16877024:C:T 10872_10351_3451_D->N 0.000199681 425 chr10:16877080:G:C 10872_10295_3432_T->S 0.0794728 425 chr10:16877093:G:A 10872_10282_3428_P->S 0.000399361 425 chr10:16877108:C:T 10872_10267_3423_V->I 0.00239617 425 chr10:16877110:G:A 10872_10265_3422_T->I 0.0081869 425 chr10:16877140:G:A 10872_10235_3412_P->L 0.000199681 425 chr10:16877179:T:C 10872_10196_3399_Y->C 0.000199681 425 chr10:16878242:T:C 10872_10172_3391_Q->R 0.000199681 425 chr10:16878309:T:C 10872_10105_3369_S->G 0.000798722 425 chr10:16878332:A:T 10872_10082_3361_V->E 0.000199681 425 chr10:16878338:G:A 10872_10076_3359_S->L 0.000399361 425 chr10:16878375:C:T 10872_10039_3347_G->R 0.0153754 425 chr10:16882333:G:A 10872_10028_3343_P->L 0.000998403 425 chr10:16882359:C:G 10872_10002_3334_Q->H 0.00199681 425 chr10:16882375:G:A 10872_9986_3329_S->L 0.00379393 425 chr10:16882420:G:A 10872_9941_3314_P->L 0.000199681 425 chr10:16882483:G:A 10872_9878_3293_S->L 0.000199681 425 chr10:16882520:T:A 10872_9841_3281_T->S 0.000199681 425 chr10:16882917:C:T 10872_9793_3265_E->K 0.000199681 425 chr10:16882952:G:A 10872_9758_3253_T->M 0.000399361 425 chr10:16893332:T:C 10872_9565_3189_I->V 0.0139776 425 chr10:16893406:G:C 10872_9491_3164_S->W 0.00778754 425 chr10:16911719:T:C 10872_9370_3124_S->G 0.000399361 425 chr10:16911739:C:T 10872_9350_3117_R->H 0.000399361 425 chr10:16911749:C:T 10872_9340_3114_G->S 0.00199681 425 chr10:16911754:A:G 10872_9335_3112_F->S 0.00119808 425 chr10:16911802:A:G 10872_9287_3096_L->P 0.000199681 425 chr10:16911824:T:C 10872_9265_3089_T->A 0.000599042 425 chr10:16916383:T:A 10872_9226_3076_I->F 0.000199681 425 chr10:16916403:G:A 10872_9206_3069_T->I 0.00459265 425 chr10:16916443:C:T 10872_9166_3056_A->T 0.000199681 425 chr10:16916484:T:C 10872_9125_3042_N->S 0.00299521 425 chr10:16918923:C:T 10872_9079_3027_G->R 0.000199681 425 chr10:16918932:T:C 10872_9070_3024_T->A 0.000399361 425 chr10:16918967:G:A 10872_9035_3012_P->L 0.000199681 425 chr10:16918997:T:C 10872_9005_3002_E->G 0.117013 425 chr10:16919034:C:T 10872_8968_2990_V->I 0.00139776 425 chr10:16919052:T:C 10872_8950_2984_I->V 0.0628994 425 chr10:16919081:G:A 10872_8921_2974_T->M 0.000998403 425 chr10:16919090:G:C 10872_8912_2971_S->C 0.000199681 425 chr10:16919094:G:A 10872_8908_2970_R->C 0.000599042 425 chr10:16930419:C:G 10872_8902_2968_E->Q 0.00599042 425 chr10:16930427:A:G 10872_8894_2965_F->S 0.000199681 425 chr10:16930430:G:C 10872_8891_2964_S->C 0.000199681 425 chr10:16930446:G:A 10872_8875_2959_L->F 0.000199681 425 chr10:16932384:G:A 10872_8741_2914_A->V 0.00638978 425 chr10:16932424:C:T 10872_8701_2901_V->I 0.000199681 425 chr10:16932441:C:T 10872_8684_2895_S->N 0.000199681 425 chr10:16932445:G:C 10872_8680_2894_P->A 0.000199681 425 chr10:16932454:C:T 10872_8671_2891_V->I 0.00319489 425 chr10:16932457:G:A 10872_8668_2890_P->S 0.000199681 425 chr10:16932469:C:T 10872_8656_2886_V->M 0.000199681 425 chr10:16932490:G:T 10872_8635_2879_L->I 0.0139776 425 chr10:16941000:C:T 10872_8593_2865_V->M 0.000199681 425 chr10:16941067:G:C 10872_8526_2842_H->Q 0.000199681 425 chr10:16941110:T:C 10872_8483_2828_N->S 0.000199681 425 chr10:16941114:C:T 10872_8479_2827_E->K 0.000798722 425 chr10:16941164:T:C 10872_8429_2810_H->R 0.000199681 425 chr10:16942635:G:A 10872_8399_2800_T->I 0.000798722 425 chr10:16942677:T:C 10872_8357_2786_D->G 0.000399361 425 chr10:16942755:A:G 10872_8279_2760_I->T 0.000599042 425 chr10:16943371:G:C 10872_8150_2717_S->W 0.0 425 chr10:16943426:C:T 10872_8095_2699_V->M 0.000199681 425 chr10:16943437:C:T 10872_8084_2695_G->D 0.000199681 425 chr10:16945976:T:C 10872_8051_2684_Y->C 0.000199681 425 chr10:16946006:C:T 10872_8021_2674_R->H 0.000199681 425 chr10:16946037:G:C 10872_7990_2664_Q->E 0.000199681 425 chr10:16948246:T:G 10872_7868_2623_E->A 0.00299521 425 chr10:16948277:T:G 10872_7837_2613_I->L 0.000399361 425 chr10:16948326:G:T 10872_7788_2596_N->K 0.000199681 425 chr10:16948381:G:A 10872_7733_2578_P->L 0.000199681 425 chr10:16948390:G:C 10872_7724_2575_P->R 0.067492 425 chr10:16949543:C:T 10872_7669_2557_G->S 0.000399361 425 chr10:16949566:G:A 10872_7646_2549_T->M 0.000199681 425 chr10:16949619:A:T 10872_7593_2531_N->K 0.000199681 425 chr10:16949663:T:C 10872_7549_2517_R->G 0.000199681 425 chr10:16949664:A:C 10872_7548_2516_I->M 0.000199681 425 chr10:16955841:G:A 10872_7502_2501_T->M 0.000199681 425 chr10:16955889:G:A 10872_7454_2485_P->L 0.000798722 425 chr10:16955908:C:T 10872_7435_2479_E->K 0.000199681 425 chr10:16955965:T:C 10872_7378_2460_I->V 0.000399361 425 chr10:16955978:A:T 10872_7365_2455_D->E 0.00259585 425 chr10:16955991:T:G 10872_7352_2451_E->A 0.000199681 425 chr10:16957036:A:C,G 10872_7346_2449_M->R,2 0.000798722 425 chr10:16957036:A:C,G 10872_7346_2449_M->T 0.000798722 425 chr10:16957037:T:C 10872_7345_2449_M->V 0.000199681 425 chr10:16957082:C:T 10872_7300_2434_G->S 0.000798722 425 chr10:16957083:G:C 10872_7299_2433_D->E 0.000199681 425 chr10:16957126:A:G 10872_7256_2419_I->T 0.000199681 425 chr10:16957820:C:T 10872_7210_2404_G->R 0.000199681 425 chr10:16957924:C:A 10872_7106_2369_G->V 0.000199681 425 chr10:16957981:A:G 10872_7049_2350_I->T 0.000199681 425 chr10:16960624:T:C 10872_6997_2333_I->V 0.00279553 425 chr10:16960659:C:A 10872_6962_2321_S->I 0.000798722 425 chr10:16960662:T:C 10872_6959_2320_N->S 0.000199681 425 chr10:16960683:T:A 10872_6938_2313_Y->F 0.00978435 425 chr10:16960774:G:A 10872_6847_2283_R->W 0.000199681 425 chr10:16961983:A:G 10872_6800_2267_F->S 0.000199681 425 chr10:16961995:A:C 10872_6788_2263_F->C 0.033746 425 chr10:16962019:G:A 10872_6764_2255_P->L 0.000199681 425 chr10:16962055:G:A 10872_6728_2243_P->L 0.000199681 425 chr10:16962110:C:G 10872_6673_2225_D->H 0.000998403 425 chr10:16967396:G:A 10872_6490_2164_P->S 0.000998403 425 chr10:16967401:C:T 10872_6485_2162_C->Y 0.006589 425 chr10:16967417:T:C 10872_6469_2157_N->D 0.00319489 425 chr10:16967586:C:G 10872_6459_2153_L->F 0.134585 425 chr10:16967636:G:C 10872_6409_2137_P->A 0.000199681 425 chr10:16967665:C:A 10872_6380_2127_G->V 0.000199681 425 chr10:16967701:T:C 10872_6344_2115_N->S 0.000399361 425 chr10:16967736:G:C 10872_6309_2103_I->M 0.000199681 425 chr10:16970156:T:A 10872_6271_2091_S->C 0.000199681 425 chr10:16970164:A:G 10872_6263_2088_F->S 0.000199681 425 chr10:16970167:G:C 10872_6260_2087_S->C 0.000199681 425 chr10:16970173:T:C 10872_6254_2085_N->S 0.000199681 425 chr10:16970212:C:T 10872_6215_2072_R->H 0.000199681 425 chr10:16970216:T:C 10872_6211_2071_I->V 0.000199681 425 chr10:16970257:T:C 10872_6170_2057_E->G 0.000199681 425 chr10:16970285:G:C 10872_6142_2048_Q->E 0.00119808 425 chr10:16970294:T:G 10872_6133_2045_N->H 0.000199681 425 chr10:16975121:C:T 10872_6089_2030_R->Q 0.000998403 425 chr10:16975163:G:C 10872_6047_2016_T->S 0.000199681 425 chr10:16975229:G:T 10872_5981_1994_P->Q 0.000199681 425 chr10:16975251:C:T 10872_5959_1987_A->T 0.000199681 425 chr10:16979593:G:A 10872_5924_1975_P->L 0.00479233 425 chr10:16979600:T:C 10872_5917_1973_I->V 0.000199681 425 chr10:16979606:G:T 10872_5911_1971_P->T 0.0794728 425 chr10:16979659:C:T 10872_5858_1953_G->E 0.000199681 425 chr10:16979660:C:G 10872_5857_1953_G->R 0.000599042 425 chr10:16979677:G:T 10872_5840_1947_S->Y 0.000399361 425 chr10:16979698:G:C 10872_5819_1940_S->C 0.000199681 425 chr10:16979710:G:T 10872_5807_1936_S->Y 0.000199681 425 chr10:16979711:A:T 10872_5806_1936_S->T 0.000199681 425 chr10:16979714:T:C 10872_5803_1935_S->G 0.0878594 425 chr10:16979755:C:T 10872_5762_1921_R->H 0.000199681 425 chr10:16979756:G:A 10872_5761_1921_R->C 0.000199681 425 chr10:16980979:A:G 10872_5716_1906_Y->H 0.000199681 425 chr10:16981015:T:C 10872_5680_1894_I->V 0.00499201 425 chr10:16981030:C:T 10872_5665_1889_V->I 0.000199681 425 chr10:16981069:A:C 10872_5626_1876_S->A 0.000399361 425 chr10:16981140:C:T 10872_5555_1852_G->D 0.000199681 425 chr10:16982061:C:T 10872_5518_1840_G->S 0.117612 425 chr10:16982099:G:T 10872_5480_1827_T->N 0.000199681 425 chr10:16982120:T:C 10872_5459_1820_Y->C 0.000998403 425 chr10:16982163:G:T 10872_5416_1806_H->N 0.000199681 425 chr10:16982168:G:A 10872_5411_1804_T->M 0.000199681 425 chr10:16989271:C:T 10872_5305_1769_V->I 0.0609026 425 chr10:16989291:A:C,G 10872_5285_1762_V->G,2 0.000399361 425 chr10:16989291:A:C,G 10872_5285_1762_V->A 0.000399361 425 chr10:16990479:G:A 10872_5207_1736_S->L 0.00179712 425 chr10:16990585:T:C 10872_5101_1701_M->V 0.000399361 425 chr10:16990588:C:T 10872_5098_1700_D->N 0.00499201 425 chr10:16990594:C:T 10872_5092_1698_G->S 0.000399361 425 chr10:16992011:G:A 10872_5069_1690_A->V 0.000798722 425 chr10:16992031:C:G 10872_5049_1683_L->F 0.000599042 425 chr10:16992075:G:T 10872_5005_1669_L->I 0.000199681 425 chr10:16994280:G:C 10872_4964_1655_P->R 0.000399361 425 chr10:16994337:C:A 10872_4907_1636_R->L 0.000199681 425 chr10:16996405:C:A 10872_4838_1613_R->L 0.000199681 425 chr10:16996472:C:T 10872_4771_1591_V->I 0.000199681 425 chr10:16996473:G:C 10872_4770_1590_I->M 0.000399361 425 chr10:16996504:G:A 10872_4739_1580_T->M 0.000399361 425 chr10:16996541:C:T 10872_4702_1568_D->N 0.000399361 425 chr10:17024488:T:A 10872_4690_1564_I->F 0.000998403 425 chr10:17024503:G:A 10872_4675_1559_P->S 0.386581 425 chr10:17024643:C:T 10872_4535_1512_G->E 0.000199681 425 chr10:17026209:G:A 10872_4420_1474_P->S 0.000399361 425 chr10:17026253:G:C 10872_4376_1459_S->C 0.000599042 425 chr10:17026263:C:T 10872_4366_1456_D->N 0.000599042 425 chr10:17032415:G:A 10872_4268_1423_T->M 0.000199681 425 chr10:17032433:C:A 10872_4250_1417_C->F 0.000199681 425 chr10:17061865:C:T 10872_4135_1379_E->K 0.000199681 425 chr10:17061870:C:T 10872_4130_1377_R->H 0.000399361 425 chr10:17061942:A:T 10872_4058_1353_V->E 0.000199681 425 chr10:17083061:G:A 10872_3988_1330_H->Y 0.000599042 425 chr10:17083087:G:T 10872_3962_1321_T->K 0.000199681 425 chr10:17085903:C:G 10872_3752_1251_S->T 0.00638978 425 chr10:17087032:G:C 10872_3646_1216_P->A 0.000199681 425 chr10:17088032:T:C 10872_3391_1131_T->A 0.000199681 425 chr10:17088067:A:G 10872_3356_1119_L->S 0.000599042 425 chr10:17089450:C:A 10872_3292_1098_A->S 0.00499201 425 chr10:17089512:C:T 10872_3230_1077_R->Q 0.000599042 425 chr10:17089531:T:C 10872_3211_1071_N->D 0.000199681 425 chr10:17089567:A:C 10872_3175_1059_F->V 0.000199681 425 chr10:17089593:T:C 10872_3149_1050_Q->R 0.000199681 425 chr10:17110120:T:C 10872_2951_984_N->S 0.000199681 425 chr10:17110139:G:T 10872_2932_978_H->N 0.000199681 425 chr10:17110142:A:G 10872_2929_977_F->L 0.000798722 425 chr10:17110148:C:T 10872_2923_975_E->K 0.000199681 425 chr10:17110185:T:C 10872_2886_962_I->M 0.000199681 425 chr10:17110205:T:C 10872_2866_956_I->V 0.000199681 425 chr10:17110276:C:T 10872_2795_932_C->Y 0.000199681 425 chr10:17110639:T:C 10872_2756_919_H->R 0.00299521 425 chr10:17110657:C:G 10872_2738_913_S->T 0.000798722 425 chr10:17110687:T:C 10872_2708_903_Y->C 0.000199681 425 chr10:17110718:T:C 10872_2677_893_T->A 0.000399361 425 chr10:17110721:C:T 10872_2674_892_G->S 0.000399361 425 chr10:17110732:T:C 10872_2663_888_K->R 0.000199681 425 chr10:17110739:C:T 10872_2656_886_E->K 0.000399361 425 chr10:17110759:C:T 10872_2636_879_S->N 0.000199681 425 chr10:17110763:T:C 10872_2632_878_S->G 0.000998403 425 chr10:17113456:C:T 10872_2594_865_S->N 0.00319489 425 chr10:17113567:C:T 10872_2483_828_R->H 0.000399361 425 chr10:17113574:C:T 10872_2476_826_V->I 0.000798722 425 chr10:17126314:C:T 10872_2257_753_V->M 0.000599042 425 chr10:17126315:G:T 10872_2256_752_H->Q 0.000199681 425 chr10:17126325:T:G 10872_2246_749_N->T 0.000199681 425 chr10:17126368:C:A 10872_2203_735_V->F 0.000199681 425 chr10:17126383:G:A 10872_2188_730_H->Y 0.0822684 425 chr10:17126389:A:G 10872_2182_728_F->L 0.00479233 425 chr10:17126433:G:A 10872_2138_713_T->M 0.000399361 425 chr10:17127707:T:C 10872_1999_667_T->A 0.000199681 425 chr10:17127727:A:C 10872_1979_660_L->R 0.000199681 425 chr10:17127732:G:T 10872_1974_658_D->E 0.000199681 425 chr10:17127755:G:C 10872_1951_651_R->G 0.00259585 425 chr10:17130163:C:A 10872_1947_649_E->D 0.000199681 425 chr10:17130228:C:T 10872_1882_628_V->I 0.000199681 425 chr10:17130299:G:A 10872_1811_604_P->L 0.000399361 425 chr10:17130339:C:T 10872_1771_591_G->R 0.000199681 425 chr10:17142084:T:C 10872_1685_562_N->S 0.000199681 425 chr10:17142088:C:T 10872_1681_561_D->N 0.000998403 425 chr10:17142211:G:A 10872_1558_520_R->W 0.000199681 425 chr10:17142231:C:T 10872_1538_513_R->H 0.000199681 425 chr10:17145192:T:A 10872_1462_488_R->W 0.000199681 425 chr10:17146486:C:T 10872_1349_450_G->D 0.000998403 425 chr10:17146499:T:G 10872_1336_446_T->P 0.000199681 425 chr10:17146537:A:G 10872_1298_433_I->T 0.000199681 425 chr10:17146563:C:A 10872_1272_424_W->C 0.000199681 425 chr10:17147521:G:T 10872_1165_389_P->T 0.465655 425 chr10:17151662:T:C,G 10872_1088_363_D->G,2 0.00219649 425 chr10:17151662:T:C,G 10872_1088_363_D->A 0.00219649 425 chr10:17151681:T:A 10872_1069_357_N->Y 0.000199681 425 chr10:17151695:A:T 10872_1055_352_I->N 0.000199681 425 chr10:17151728:T:C 10872_1022_341_Q->R 0.000199681 425 chr10:17152930:C:T 10872_1003_335_A->T 0.00499201 425 chr10:17152969:C:T 10872_964_322_V->I 0.000199681 425 chr10:17152972:G:A 10872_961_321_P->S 0.000399361 425 chr10:17153019:T:C 10872_914_305_D->G 0.000199681 425 chr10:17153023:C:T 10872_910_304_E->K 0.0091853 425 chr10:17156095:C:T 10872_814_272_G->R 0.000798722 425 chr10:17156118:C:G 10872_791_264_R->T 0.000199681 425 chr10:17156151:A:G 10872_758_253_F->S 0.200679 425 chr10:17157519:C:T 10872_671_224_R->H 0.000199681 425 chr10:17157571:C:T 10872_619_207_G->R 0.000199681 425 chr10:17164891:G:A 10872_496_166_L->F 0.000199681 425 chr10:17165600:G:A 10872_476_159_P->L 0.000199681 425 chr10:17165659:A:T 10872_417_139_N->K 0.000199681 425 chr10:17165680:G:C 10872_396_132_D->E 0.000199681 425 chr10:17171176:C:T 10872_196_66_G->R 0.0215655 425 chr10:17171196:T:C 10872_176_59_Q->R 0.000399361 425 chr10:17171197:G:C 10872_175_59_Q->E 0.000199681 425 chr10:17171244:C:T 10872_128_43_R->Q 0.000798722 425 chr10:17171656:T:G 10872_109_37_I->L 0.038738 425 chr10:17171671:T:C 10872_94_32_R->G 0.000199681 425 chr10:17171747:T:A 10872_18_6_L->F 0.000199681 425 chr10:17171761:T:C 10872_4_2_M->V 0.000199681 425 chr10:17171762:C:A 10872_3_1_M->I 0.000199681 425 na12878 Variants: 425 chr10:17156151:A:G 10872_758_253_F->S 425 chr10:17024503:G:A 10872_4675_1559_P->S 425 chr10:17147521:G:T 10872_1165_389_P->T 425 snyder Variants: 425 chr10:17156151:A:G 10872_758_253_F->S 425 chr10:17024503:G:A 10872_4675_1559_P->S 425 chr10:17126383:G:A 10872_2188_730_H->Y 425 chr10:17147521:G:T 10872_1165_389_P->T 426 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000171988_ENST00000399262 gene_Name: JHD2C_HUMAN 426 list of pdbs: 426 2YPD pdb_description: 12-Dec-12 X-ray 2.100 Crystal structure of the jumonji domain of human jumonji dom containing 1c protein 426 Zimmer Variants: 426 chr10:64927823:C:G 7623_7605_2535_E->D 426 chr10:64974380:G:C 7623_1547_516_T->S 426 chr10:64974537:A:T 7623_1390_464_S->T 426 HGMD Variants: 426 chr10:64949066:T:C 7623_6432_2144_I->M 426 chr10:64966648:A:G 7623_4781_1594_I->T 426 chr10:64967043:C:G 7623_4386_1462_K->N 426 chr10:64967942:T:C 7623_3487_1163_I->V 426 chr10:64968251:T:C 7623_3178_1060_K->E 426 chr10:64979680:C:T 7623_511_171_V->I 426 oneKG Variants: 426 chr10:64927823:C:G 7623_7605_2535_E->D 0.392173 426 chr10:64927837:C:T 7623_7591_2531_E->K 0.00199681 426 chr10:64928253:T:C 7623_7475_2492_H->R 0.000199681 426 chr10:64936073:G:A 7623_7385_2462_A->V 0.000199681 426 chr10:64936086:T:C 7623_7372_2458_I->V 0.000599042 426 chr10:64936110:G:C 7623_7348_2450_L->V 0.000199681 426 chr10:64937501:G:C 7623_7200_2400_D->E 0.0225639 426 chr10:64944407:C:G 7623_6922_2308_V->L 0.000199681 426 chr10:64946032:T:C 7623_6682_2228_S->G 0.000199681 426 chr10:64949007:T:C 7623_6491_2164_E->G 0.000199681 426 chr10:64949072:G:T 7623_6426_2142_S->R 0.000199681 426 chr10:64949103:T:A 7623_6395_2132_K->I 0.000199681 426 chr10:64950745:C:T 7623_6200_2067_R->Q 0.000199681 426 chr10:64950758:C:T 7623_6187_2063_G->S 0.000199681 426 chr10:64950833:C:G 7623_6112_2038_E->Q 0.000199681 426 chr10:64950840:T:A 7623_6105_2035_Q->H 0.000199681 426 chr10:64950841:T:G 7623_6104_2035_Q->P 0.000798722 426 chr10:64950853:G:C 7623_6092_2031_T->S 0.000199681 426 chr10:64952781:T:G 7623_5993_1998_N->T 0.000199681 426 chr10:64952784:T:C 7623_5990_1997_D->G 0.000199681 426 chr10:64952808:C:G 7623_5966_1989_S->T 0.000199681 426 chr10:64952814:C:G 7623_5960_1987_G->A 0.000199681 426 chr10:64952835:G:A 7623_5939_1980_P->L 0.0105831 426 chr10:64953125:T:C 7623_5842_1948_T->A 0.000199681 426 chr10:64957318:T:C 7623_5497_1833_I->V 0.000399361 426 chr10:64960413:T:C 7623_5099_1700_K->R 0.000199681 426 chr10:64966379:G:C 7623_5050_1684_L->V 0.000199681 426 chr10:64966411:A:G 7623_5018_1673_V->A 0.000199681 426 chr10:64966604:T:C 7623_4825_1609_K->E 0.000199681 426 chr10:64966621:A:G 7623_4808_1603_I->T 0.000199681 426 chr10:64966705:A:G 7623_4724_1575_V->A 0.000998403 426 chr10:64966843:T:C 7623_4586_1529_K->R 0.000199681 426 chr10:64966862:T:A 7623_4567_1523_I->F 0.000798722 426 chr10:64966903:T:A 7623_4526_1509_N->I 0.000199681 426 chr10:64966946:T:C 7623_4483_1495_K->E 0.000798722 426 chr10:64966991:T:G 7623_4438_1480_I->L 0.000199681 426 chr10:64967043:C:G 7623_4386_1462_K->N 0.000599042 426 chr10:64967093:G:T 7623_4336_1446_Q->K 0.000199681 426 chr10:64967117:C:A 7623_4312_1438_V->F 0.000199681 426 chr10:64967249:T:A 7623_4180_1394_T->S 0.000599042 426 chr10:64967402:G:C 7623_4027_1343_L->V 0.000199681 426 chr10:64967452:T:C 7623_3977_1326_K->R 0.000199681 426 chr10:64967455:G:A 7623_3974_1325_S->F 0.000199681 426 chr10:64967543:C:T 7623_3886_1296_G->R 0.000199681 426 chr10:64967596:G:A 7623_3833_1278_P->L 0.000199681 426 chr10:64967606:T:A 7623_3823_1275_M->L 0.000599042 426 chr10:64967956:C:T 7623_3473_1158_G->D 0.000199681 426 chr10:64968215:G:A 7623_3214_1072_R->C 0.000798722 426 chr10:64968251:T:C 7623_3178_1060_K->E 0.00339457 426 chr10:64968272:C:G 7623_3157_1053_A->P 0.000399361 426 chr10:64968361:C:T 7623_3068_1023_R->H 0.000199681 426 chr10:64968403:T:C 7623_3026_1009_Q->R 0.000199681 426 chr10:64968469:C:A 7623_2960_987_G->V 0.000199681 426 chr10:64968534:T:A 7623_2895_965_E->D 0.000599042 426 chr10:64973237:C:G 7623_2690_897_R->T 0.000199681 426 chr10:64973250:C:T 7623_2677_893_E->K 0.000199681 426 chr10:64973286:A:T 7623_2641_881_S->T 0.000199681 426 chr10:64973447:G:A 7623_2480_827_A->V 0.000199681 426 chr10:64973448:C:T 7623_2479_827_A->T 0.000199681 426 chr10:64973732:A:G 7623_2195_732_F->S 0.000199681 426 chr10:64973804:T:C 7623_2123_708_N->S 0.000199681 426 chr10:64973848:G:C 7623_2079_693_S->R 0.000199681 426 chr10:64973978:G:A 7623_1949_650_T->I 0.00419329 426 chr10:64973997:C:T 7623_1930_644_V->I 0.000199681 426 chr10:64974017:T:C 7623_1910_637_K->R 0.00738818 426 chr10:64974059:A:G 7623_1868_623_I->T 0.000998403 426 chr10:64974080:C:T 7623_1847_616_R->Q 0.000199681 426 chr10:64974113:G:A 7623_1814_605_A->V 0.000199681 426 chr10:64974123:G:C 7623_1804_602_P->A 0.000798722 426 chr10:64974131:T:C 7623_1796_599_Y->C 0.000199681 426 chr10:64974156:T:C 7623_1771_591_M->V 0.0457268 426 chr10:64974189:T:C 7623_1738_580_T->A 0.000199681 426 chr10:64974224:T:A 7623_1703_568_D->V 0.000199681 426 chr10:64974245:G:C 7623_1682_561_S->C 0.00379393 426 chr10:64974354:T:C 7623_1573_525_N->D 0.000199681 426 chr10:64974369:T:G 7623_1558_520_K->Q 0.000399361 426 chr10:64974380:G:C 7623_1547_516_T->S 0.071885 426 chr10:64974383:T:C 7623_1544_515_D->G 0.000998403 426 chr10:64974389:G:T 7623_1538_513_T->K 0.000199681 426 chr10:64974489:G:T 7623_1438_480_P->T 0.000199681 426 chr10:64974495:A:T 7623_1432_478_L->I 0.000199681 426 chr10:64974536:G:A 7623_1391_464_S->L 0.000199681 426 chr10:64974537:A:T 7623_1390_464_S->T 0.488618 426 chr10:64974548:A:G 7623_1379_460_M->T 0.00878594 426 chr10:64974567:T:C 7623_1360_454_T->A 0.000399361 426 chr10:64974581:C:T 7623_1346_449_R->Q 0.000199681 426 chr10:64974612:C:T 7623_1315_439_E->K 0.000199681 426 chr10:64974630:G:T 7623_1297_433_P->T 0.000199681 426 chr10:64974634:C:G 7623_1293_431_Q->H 0.000199681 426 chr10:64974807:C:G 7623_1120_374_D->H 0.000199681 426 chr10:64974815:T:C 7623_1112_371_N->S 0.000399361 426 chr10:64974824:C:T 7623_1103_368_R->Q 0.000599042 426 chr10:64975079:C:T 7623_959_320_S->N 0.000399361 426 chr10:64975093:C:A 7623_945_315_K->N 0.000199681 426 chr10:64975106:G:C 7623_932_311_P->R 0.000199681 426 chr10:64975321:C:T 7623_814_272_A->T 0.0177716 426 chr10:64977045:G:C 7623_600_200_D->E 0.000199681 426 chr10:64979723:G:C 7623_468_156_N->K 0.000599042 426 chr10:64979734:C:T 7623_457_153_D->N 0.000199681 426 chr10:65024447:A:C 7623_411_137_D->E 0.000199681 426 chr10:65140173:T:C 7623_238_80_T->A 0.000399361 426 chr10:65140188:A:G 7623_223_75_Y->H 0.000199681 426 chr10:65225271:C:A 7623_152_51_R->L 0.000199681 426 chr10:65225334:C:T 7623_89_30_S->N 0.000199681 426 chr10:65225367:A:T 7623_56_19_V->D 0.00399361 426 chr10:65225418:G:A 7623_5_2_A->V 0.000199681 426 na12878 Variants: 426 chr10:64927823:C:G 7623_7605_2535_E->D 426 chr10:64974537:A:T 7623_1390_464_S->T 426 snyder Variants: 426 chr10:64974537:A:T 7623_1390_464_S->T 427 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000171988_ENST00000542921 gene_Name: JHD2C_HUMAN 427 list of pdbs: 427 2YPD pdb_description: 12-Dec-12 X-ray 2.100 Crystal structure of the jumonji domain of human jumonji dom containing 1c protein 427 Zimmer Variants: 427 chr10:64927823:C:G 7077_7059_2353_E->D 427 chr10:64974380:G:C 7077_1001_334_T->S 427 chr10:64974537:A:T 7077_844_282_S->T 427 HGMD Variants: 427 chr10:64949066:T:C 7077_5886_1962_I->M 427 chr10:64966648:A:G 7077_4235_1412_I->T 427 chr10:64967043:C:G 7077_3840_1280_K->N 427 chr10:64967942:T:C 7077_2941_981_I->V 427 chr10:64968251:T:C 7077_2632_878_K->E 427 oneKG Variants: 427 chr10:64927823:C:G 7077_7059_2353_E->D 0.392173 427 chr10:64927837:C:T 7077_7045_2349_E->K 0.00199681 427 chr10:64928253:T:C 7077_6929_2310_H->R 0.000199681 427 chr10:64936073:G:A 7077_6839_2280_A->V 0.000199681 427 chr10:64936086:T:C 7077_6826_2276_I->V 0.000599042 427 chr10:64936110:G:C 7077_6802_2268_L->V 0.000199681 427 chr10:64937501:G:C 7077_6654_2218_D->E 0.0225639 427 chr10:64944407:C:G 7077_6376_2126_V->L 0.000199681 427 chr10:64946032:T:C 7077_6136_2046_S->G 0.000199681 427 chr10:64949007:T:C 7077_5945_1982_E->G 0.000199681 427 chr10:64949072:G:T 7077_5880_1960_S->R 0.000199681 427 chr10:64949103:T:A 7077_5849_1950_K->I 0.000199681 427 chr10:64950745:C:T 7077_5654_1885_R->Q 0.000199681 427 chr10:64950758:C:T 7077_5641_1881_G->S 0.000199681 427 chr10:64950833:C:G 7077_5566_1856_E->Q 0.000199681 427 chr10:64950840:T:A 7077_5559_1853_Q->H 0.000199681 427 chr10:64950841:T:G 7077_5558_1853_Q->P 0.000798722 427 chr10:64950853:G:C 7077_5546_1849_T->S 0.000199681 427 chr10:64952781:T:G 7077_5447_1816_N->T 0.000199681 427 chr10:64952784:T:C 7077_5444_1815_D->G 0.000199681 427 chr10:64952808:C:G 7077_5420_1807_S->T 0.000199681 427 chr10:64952814:C:G 7077_5414_1805_G->A 0.000199681 427 chr10:64952835:G:A 7077_5393_1798_P->L 0.0105831 427 chr10:64953125:T:C 7077_5296_1766_T->A 0.000199681 427 chr10:64957318:T:C 7077_4951_1651_I->V 0.000399361 427 chr10:64960413:T:C 7077_4553_1518_K->R 0.000199681 427 chr10:64966379:G:C 7077_4504_1502_L->V 0.000199681 427 chr10:64966411:A:G 7077_4472_1491_V->A 0.000199681 427 chr10:64966604:T:C 7077_4279_1427_K->E 0.000199681 427 chr10:64966621:A:G 7077_4262_1421_I->T 0.000199681 427 chr10:64966705:A:G 7077_4178_1393_V->A 0.000998403 427 chr10:64966843:T:C 7077_4040_1347_K->R 0.000199681 427 chr10:64966862:T:A 7077_4021_1341_I->F 0.000798722 427 chr10:64966903:T:A 7077_3980_1327_N->I 0.000199681 427 chr10:64966946:T:C 7077_3937_1313_K->E 0.000798722 427 chr10:64966991:T:G 7077_3892_1298_I->L 0.000199681 427 chr10:64967043:C:G 7077_3840_1280_K->N 0.000599042 427 chr10:64967093:G:T 7077_3790_1264_Q->K 0.000199681 427 chr10:64967117:C:A 7077_3766_1256_V->F 0.000199681 427 chr10:64967249:T:A 7077_3634_1212_T->S 0.000599042 427 chr10:64967402:G:C 7077_3481_1161_L->V 0.000199681 427 chr10:64967452:T:C 7077_3431_1144_K->R 0.000199681 427 chr10:64967455:G:A 7077_3428_1143_S->F 0.000199681 427 chr10:64967543:C:T 7077_3340_1114_G->R 0.000199681 427 chr10:64967596:G:A 7077_3287_1096_P->L 0.000199681 427 chr10:64967606:T:A 7077_3277_1093_M->L 0.000599042 427 chr10:64967956:C:T 7077_2927_976_G->D 0.000199681 427 chr10:64968215:G:A 7077_2668_890_R->C 0.000798722 427 chr10:64968251:T:C 7077_2632_878_K->E 0.00339457 427 chr10:64968272:C:G 7077_2611_871_A->P 0.000399361 427 chr10:64968361:C:T 7077_2522_841_R->H 0.000199681 427 chr10:64968403:T:C 7077_2480_827_Q->R 0.000199681 427 chr10:64968469:C:A 7077_2414_805_G->V 0.000199681 427 chr10:64968534:T:A 7077_2349_783_E->D 0.000599042 427 chr10:64973237:C:G 7077_2144_715_R->T 0.000199681 427 chr10:64973250:C:T 7077_2131_711_E->K 0.000199681 427 chr10:64973286:A:T 7077_2095_699_S->T 0.000199681 427 chr10:64973447:G:A 7077_1934_645_A->V 0.000199681 427 chr10:64973448:C:T 7077_1933_645_A->T 0.000199681 427 chr10:64973732:A:G 7077_1649_550_F->S 0.000199681 427 chr10:64973804:T:C 7077_1577_526_N->S 0.000199681 427 chr10:64973848:G:C 7077_1533_511_S->R 0.000199681 427 chr10:64973978:G:A 7077_1403_468_T->I 0.00419329 427 chr10:64973997:C:T 7077_1384_462_V->I 0.000199681 427 chr10:64974017:T:C 7077_1364_455_K->R 0.00738818 427 chr10:64974059:A:G 7077_1322_441_I->T 0.000998403 427 chr10:64974080:C:T 7077_1301_434_R->Q 0.000199681 427 chr10:64974113:G:A 7077_1268_423_A->V 0.000199681 427 chr10:64974123:G:C 7077_1258_420_P->A 0.000798722 427 chr10:64974131:T:C 7077_1250_417_Y->C 0.000199681 427 chr10:64974156:T:C 7077_1225_409_M->V 0.0457268 427 chr10:64974189:T:C 7077_1192_398_T->A 0.000199681 427 chr10:64974224:T:A 7077_1157_386_D->V 0.000199681 427 chr10:64974245:G:C 7077_1136_379_S->C 0.00379393 427 chr10:64974354:T:C 7077_1027_343_N->D 0.000199681 427 chr10:64974369:T:G 7077_1012_338_K->Q 0.000399361 427 chr10:64974380:G:C 7077_1001_334_T->S 0.071885 427 chr10:64974383:T:C 7077_998_333_D->G 0.000998403 427 chr10:64974389:G:T 7077_992_331_T->K 0.000199681 427 chr10:64974489:G:T 7077_892_298_P->T 0.000199681 427 chr10:64974495:A:T 7077_886_296_L->I 0.000199681 427 chr10:64974536:G:A 7077_845_282_S->L 0.000199681 427 chr10:64974537:A:T 7077_844_282_S->T 0.488618 427 chr10:64974548:A:G 7077_833_278_M->T 0.00878594 427 chr10:64974567:T:C 7077_814_272_T->A 0.000399361 427 chr10:64974581:C:T 7077_800_267_R->Q 0.000199681 427 chr10:64974612:C:T 7077_769_257_E->K 0.000199681 427 chr10:64974630:G:T 7077_751_251_P->T 0.000199681 427 chr10:64974634:C:G 7077_747_249_Q->H 0.000199681 427 chr10:64974807:C:G 7077_574_192_D->H 0.000199681 427 chr10:64974815:T:C 7077_566_189_N->S 0.000399361 427 chr10:64974824:C:T 7077_557_186_R->Q 0.000599042 427 chr10:64975079:C:T 7077_413_138_S->N 0.000399361 427 chr10:64975093:C:A 7077_399_133_K->N 0.000199681 427 chr10:64975106:G:C 7077_386_129_P->R 0.000199681 427 chr10:64975321:C:T 7077_268_90_A->T 0.0177716 427 chr10:64977045:G:C 7077_54_18_D->E 0.000199681 427 na12878 Variants: 427 chr10:64927823:C:G 7077_7059_2353_E->D 427 chr10:64974537:A:T 7077_844_282_S->T 427 snyder Variants: 427 chr10:64974537:A:T 7077_844_282_S->T 428 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000171988_ENST00000399251 gene_Name: JHD2C_HUMAN 428 list of pdbs: 428 2YPD pdb_description: 12-Dec-12 X-ray 2.100 Crystal structure of the jumonji domain of human jumonji dom containing 1c protein 428 Zimmer Variants: 428 chr10:64974380:G:C 4443_890_297_T->S;GENE=JMJD1C;CDSS=2;DBRECUR=JMJD1C 428 chr10:64974537:A:T 4443_733_245_S->T;GENE=JMJD1C;CDSS=2;DBRECUR=JMJD1C 428 HGMD Variants: 428 chr10:64966648:A:G 4443_4124_1375_I->T 428 chr10:64967043:C:G 4443_3729_1243_K->N 428 chr10:64967942:T:C 4443_2830_944_I->V 428 chr10:64968251:T:C 4443_2521_841_K->E 428 oneKG Variants: 428 chr10:64966379:G:C 4443_4393_1465_L->V 0.000199681 428 chr10:64966411:A:G 4443_4361_1454_V->A 0.000199681 428 chr10:64966604:T:C 4443_4168_1390_K->E 0.000199681 428 chr10:64966621:A:G 4443_4151_1384_I->T 0.000199681 428 chr10:64966705:A:G 4443_4067_1356_V->A 0.000998403 428 chr10:64966843:T:C 4443_3929_1310_K->R 0.000199681 428 chr10:64966862:T:A 4443_3910_1304_I->F 0.000798722 428 chr10:64966903:T:A 4443_3869_1290_N->I 0.000199681 428 chr10:64966946:T:C 4443_3826_1276_K->E 0.000798722 428 chr10:64966991:T:G 4443_3781_1261_I->L 0.000199681 428 chr10:64967043:C:G 4443_3729_1243_K->N 0.000599042 428 chr10:64967093:G:T 4443_3679_1227_Q->K 0.000199681 428 chr10:64967117:C:A 4443_3655_1219_V->F 0.000199681 428 chr10:64967249:T:A 4443_3523_1175_T->S 0.000599042 428 chr10:64967402:G:C 4443_3370_1124_L->V 0.000199681 428 chr10:64967452:T:C 4443_3320_1107_K->R 0.000199681 428 chr10:64967455:G:A 4443_3317_1106_S->F 0.000199681 428 chr10:64967543:C:T 4443_3229_1077_G->R 0.000199681 428 chr10:64967596:G:A 4443_3176_1059_P->L 0.000199681 428 chr10:64967606:T:A 4443_3166_1056_M->L 0.000599042 428 chr10:64967956:C:T 4443_2816_939_G->D 0.000199681 428 chr10:64968215:G:A 4443_2557_853_R->C 0.000798722 428 chr10:64968251:T:C 4443_2521_841_K->E 0.00339457 428 chr10:64968272:C:G 4443_2500_834_A->P 0.000399361 428 chr10:64968361:C:T 4443_2411_804_R->H 0.000199681 428 chr10:64968403:T:C 4443_2369_790_Q->R 0.000199681 428 chr10:64968469:C:A 4443_2303_768_G->V 0.000199681 428 chr10:64968534:T:A 4443_2238_746_E->D 0.000599042 428 chr10:64973237:C:G 4443_2033_678_R->T 0.000199681 428 chr10:64973250:C:T 4443_2020_674_E->K 0.000199681 428 chr10:64973286:A:T 4443_1984_662_S->T 0.000199681 428 chr10:64973447:G:A 4443_1823_608_A->V 0.000199681 428 chr10:64973448:C:T 4443_1822_608_A->T 0.000199681 428 chr10:64973732:A:G 4443_1538_513_F->S 0.000199681 428 chr10:64973804:T:C 4443_1466_489_N->S 0.000199681 428 chr10:64973848:G:C 4443_1422_474_S->R 0.000199681 428 chr10:64973978:G:A 4443_1292_431_T->I 0.00419329 428 chr10:64973997:C:T 4443_1273_425_V->I 0.000199681 428 chr10:64974017:T:C 4443_1253_418_K->R 0.00738818 428 chr10:64974059:A:G 4443_1211_404_I->T 0.000998403 428 chr10:64974080:C:T 4443_1190_397_R->Q 0.000199681 428 chr10:64974113:G:A 4443_1157_386_A->V 0.000199681 428 chr10:64974123:G:C 4443_1147_383_P->A 0.000798722 428 chr10:64974131:T:C 4443_1139_380_Y->C 0.000199681 428 chr10:64974156:T:C 4443_1114_372_M->V 0.0457268 428 chr10:64974189:T:C 4443_1081_361_T->A 0.000199681 428 chr10:64974224:T:A 4443_1046_349_D->V 0.000199681 428 chr10:64974245:G:C 4443_1025_342_S->C 0.00379393 428 chr10:64974354:T:C 4443_916_306_N->D 0.000199681 428 chr10:64974369:T:G 4443_901_301_K->Q 0.000399361 428 chr10:64974380:G:C 4443_890_297_T->S 0.071885 428 chr10:64974383:T:C 4443_887_296_D->G 0.000998403 428 chr10:64974389:G:T 4443_881_294_T->K 0.000199681 428 chr10:64974489:G:T 4443_781_261_P->T 0.000199681 428 chr10:64974495:A:T 4443_775_259_L->I 0.000199681 428 chr10:64974536:G:A 4443_734_245_S->L 0.000199681 428 chr10:64974537:A:T 4443_733_245_S->T 0.488618 428 chr10:64974548:A:G 4443_722_241_M->T 0.00878594 428 chr10:64974567:T:C 4443_703_235_T->A 0.000399361 428 chr10:64974581:C:T 4443_689_230_R->Q 0.000199681 428 chr10:64974612:C:T 4443_658_220_E->K 0.000199681 428 chr10:64974630:G:T 4443_640_214_P->T 0.000199681 428 chr10:64974634:C:G 4443_636_212_Q->H 0.000199681 428 chr10:64974807:C:G 4443_463_155_D->H 0.000199681 428 chr10:64974815:T:C 4443_455_152_N->S 0.000399361 428 chr10:64974824:C:T 4443_446_149_R->Q 0.000599042 428 chr10:64975079:C:T 4443_302_101_S->N 0.000399361 428 chr10:64975093:C:A 4443_288_96_K->N 0.000199681 428 chr10:64975106:G:C 4443_275_92_P->R 0.000199681 428 chr10:64975321:C:T 4443_157_53_A->T 0.0177716 428 na12878 Variants: 428 chr10:64974537:A:T 4443_733_245_S->T 428 snyder Variants: 428 chr10:64974537:A:T 4443_733_245_S->T 429 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000107736_ENST00000224721 gene_Name: 429 list of pdbs: 429 2LSR pdb_description: 15-Aug-12 NMR 20 Solution structure of harmonin n terminal domain in complex exon68 encoded peptide of cadherin23 429 2KBS pdb_description: 31-Mar-09 NMR 20 Solution structure of harmonin pdz2 in complex with the carboxyl tail peptide of cadherin23 429 2KBR pdb_description: 31-Mar-09 NMR 20 Solution structure of harmonin n terminal domain in complex with a internal peptide of cadherin23 429 Zimmer Variants: 429 chr10:73492079:A:G 10080_4066_1356_N->D;GENE=CDH23;CDSS=2;DBRECUR=CDH23 429 chr10:73501556:G:A 10080_4738_1580_A->T;GENE=CDH23;CDSS=2;DBRECUR=CDH23 429 chr10:73550117:C:G 10080_6011_2004_T->S;GENE=CDH23;CDSS=2;DBRECUR=CDH23 429 chr10:73270982:G:A 10080_442_148_G->R;GENE=CDH23;CDSS=1;DBRECUR=CDH23 429 chr10:73434906:G:A 10080_1502_501_S->N 429 HGMD Variants: 429 chr10:73199653:G:A 10080_65_22_W->* 429 chr10:73269865:C:T 10080_172_58_Q->* 429 chr10:73377130:C:T 10080_1129_377_Q->* 429 chr10:73453933:C:T 10080_2221_741_R->* 429 chr10:73461806:G:T 10080_2440_814_E->* 429 chr10:73472442:C:T 10080_3256_1086_R->* 429 chr10:73472568:C:T 10080_3382_1128_Q->* 429 chr10:73485179:C:T 10080_3496_1166_R->* 429 chr10:73490301:C:T 10080_3670_1224_R->* 429 chr10:73491908:C:T 10080_3895_1299_Q->* 429 chr10:73492097:C:T 10080_4084_1362_Q->* 429 chr10:73498354:C:T 10080_4324_1442_R->* 429 chr10:73500594:C:T 10080_4519_1507_R->* 429 chr10:73550106:C:A 10080_6000_2000_Y->* 429 chr10:73552992:G:T 10080_6322_2108_E->* 429 chr10:73553004:C:T 10080_6334_2112_R->* 429 chr10:73553022:C:T 10080_6352_2118_Q->* 429 chr10:73559034:C:A 10080_7236_2412_Y->* 429 chr10:73562832:G:T 10080_7675_2559_E->* 429 chr10:73569657:C:T 10080_8818_2940_R->* 429 chr10:73569771:G:T 10080_8932_2978_E->* 429 chr10:73572345:G:A 10080_9504_3168_W->* 429 chr10:73270911:A:G 10080_371_124_D->G 429 chr10:73270955:G:A 10080_415_139_V->I 429 chr10:73270959:G:A 10080_419_140_R->H 429 chr10:73270967:G:C 10080_427_143_E->Q 429 chr10:73270973:G:A 10080_433_145_G->R 429 chr10:73326553:G:A 10080_499_167_G->R 429 chr10:73330641:C:T 10080_734_245_P->L 429 chr10:73330661:G:A 10080_754_252_E->K 429 chr10:73337695:G:A 10080_793_265_A->T 429 chr10:73337707:G:T 10080_805_269_D->Y 429 chr10:73375299:G:A 10080_886_296_G->R 429 chr10:73375330:G:A 10080_917_306_R->Q 429 chr10:73377041:A:G 10080_1040_347_N->S 429 chr10:73377052:C:T 10080_1051_351_P->S 429 chr10:73377053:C:T 10080_1052_351_P->L 429 chr10:73377112:G:A 10080_1111_371_A->T 429 chr10:73405729:G:A 10080_1297_433_D->N 429 chr10:73406280:A:G 10080_1370_457_N->S 429 chr10:73406348:G:A 10080_1438_480_V->M 429 chr10:73406364:T:A 10080_1454_485_L->Q 429 chr10:73434869:G:C 10080_1465_489_A->P 429 chr10:73437314:G:A 10080_1631_544_G->D 429 chr10:73437373:C:T 10080_1690_564_P->S 429 chr10:73437443:G:A 10080_1760_587_R->Q 429 chr10:73442277:A:G 10080_1949_650_D->G 429 chr10:73453990:C:T 10080_2278_760_H->Y 429 chr10:73461788:G:A 10080_2422_808_V->I 429 chr10:73461949:C:G 10080_2583_861_I->M 429 chr10:73464686:G:A 10080_2767_923_D->N 429 chr10:73464686:G:C 10080_2767_923_D->H 429 chr10:73464788:G:A 10080_2869_957_E->K 429 chr10:73464800:G:A 10080_2881_961_E->K 429 chr10:73466668:G:A 10080_2983_995_D->N 429 chr10:73466716:G:A 10080_3031_1011_E->K 429 chr10:73468926:C:T 10080_3193_1065_R->W 429 chr10:73468929:G:A 10080_3196_1066_E->K 429 chr10:73468963:C:A 10080_3230_1077_A->D 429 chr10:73472469:G:A 10080_3283_1095_V->I 429 chr10:73472494:A:G 10080_3308_1103_N->S 429 chr10:73483820:G:T 10080_3403_1135_D->Y 429 chr10:73483839:G:A 10080_3422_1141_R->H 429 chr10:73485255:G:A 10080_3572_1191_G->D 429 chr10:73485263:C:T 10080_3580_1194_R->W 429 chr10:73490263:C:G 10080_3632_1211_P->R 429 chr10:73490271:A:G 10080_3640_1214_T->A 429 chr10:73492023:T:G 10080_4010_1337_I->S 429 chr10:73492049:G:A 10080_4036_1346_D->N 429 chr10:73492131:C:T 10080_4118_1373_T->M 429 chr10:73494028:G:C 10080_4151_1384_R->P 429 chr10:73494072:G:A 10080_4195_1399_G->S 429 chr10:73498289:G:T 10080_4259_1420_S->I 429 chr10:73498294:C:T 10080_4264_1422_R->W 429 chr10:73498312:G:A 10080_4282_1428_D->N 429 chr10:73498373:C:G 10080_4343_1448_A->G 429 chr10:73498391:G:A 10080_4361_1454_G->D 429 chr10:73499529:G:C 10080_4503_1501_Q->H 429 chr10:73500610:G:A 10080_4535_1512_R->Q 429 chr10:73501495:C:A 10080_4677_1559_D->E 429 chr10:73501521:T:C 10080_4703_1568_L->P 429 chr10:73501589:G:C 10080_4771_1591_A->P 429 chr10:73501595:C:T 10080_4777_1593_R->W 429 chr10:73501616:G:A 10080_4798_1600_E->K 429 chr10:73501662:G:T 10080_4844_1615_G->V 429 chr10:73537444:C:A 10080_4868_1623_T->K 429 chr10:73537449:G:A 10080_4873_1625_V->M 429 chr10:73537468:A:C 10080_4892_1631_D->A 429 chr10:73537579:A:T 10080_5003_1668_D->V 429 chr10:73537979:G:A 10080_5116_1706_E->K 429 chr10:73538009:G:A 10080_5146_1716_V->I 429 chr10:73538025:A:C 10080_5162_1721_Q->P 429 chr10:73539073:G:A 10080_5252_1751_R->Q 429 chr10:73539199:C:T 10080_5378_1793_P->L 429 chr10:73544093:C:G 10080_5433_1811_D->E 429 chr10:73544672:G:T 10080_5542_1848_D->Y 429 chr10:73544681:G:A 10080_5551_1851_D->N 429 chr10:73544772:G:A 10080_5642_1881_S->N 429 chr10:73544805:C:T 10080_5675_1892_T->I 429 chr10:73544808:T:C 10080_5678_1893_F->S 429 chr10:73545409:C:T 10080_5749_1917_R->W 429 chr10:73545422:G:A 10080_5762_1921_R->H 429 chr10:73545463:G:A 10080_5803_1935_D->N 429 chr10:73550170:G:A 10080_6064_2022_G->S 429 chr10:73550170:G:A 10080_6064_2022_G->S 429 chr10:73550924:C:T 10080_6100_2034_R->W 429 chr10:73550972:G:A 10080_6148_2050_D->N 429 chr10:73553074:C:T 10080_6404_2135_A->V 429 chr10:73553127:G:A 10080_6457_2153_D->N 429 chr10:73553196:C:T 10080_6526_2176_R->C 429 chr10:73553289:G:A 10080_6619_2207_D->N 429 chr10:73553291:C:A 10080_6621_2207_D->E 429 chr10:73553365:A:C 10080_6695_2232_Q->P 429 chr10:73558128:G:A 10080_6862_2288_V->I 429 chr10:73558142:T:G 10080_6876_2292_N->K 429 chr10:73558940:A:T 10080_7142_2381_D->V 429 chr10:73558958:G:A 10080_7160_2387_R->Q 429 chr10:73559011:C:T 10080_7213_2405_P->S 429 chr10:73559336:G:A 10080_7327_2443_E->K 429 chr10:73560423:C:T 10080_7408_2470_R->W 429 chr10:73560448:T:C 10080_7433_2478_L->P 429 chr10:73560496:G:A 10080_7481_2494_R->H 429 chr10:73562721:A:G 10080_7564_2522_S->G 429 chr10:73562752:C:T 10080_7595_2532_S->L 429 chr10:73562761:C:T 10080_7604_2535_T->I 429 chr10:73562802:T:G 10080_7645_2549_L->V 429 chr10:73563128:G:A 10080_7838_2613_R->H 429 chr10:73565593:G:T 10080_7918_2640_V->F 429 chr10:73565606:A:G 10080_7931_2644_D->G 429 chr10:73565695:A:G 10080_8020_2674_I->V 429 chr10:73565973:A:G 10080_8128_2710_M->V 429 chr10:73566010:A:G 10080_8165_2722_D->G 429 chr10:73567085:G:A 10080_8245_2749_G->S 429 chr10:73567112:G:A 10080_8272_2758_A->T 429 chr10:73567275:G:A 10080_8326_2776_G->S 429 chr10:73567365:T:G 10080_8416_2806_F->V 429 chr10:73567461:C:G 10080_8512_2838_R->G 429 chr10:73567494:C:T 10080_8545_2849_P->S 429 chr10:73567495:C:T 10080_8546_2849_P->L 429 chr10:73569588:G:A 10080_8749_2917_G->S 429 chr10:73569703:T:A 10080_8864_2955_I->N 429 chr10:73569720:C:T 10080_8881_2961_R->C 429 chr10:73569732:G:A 10080_8893_2965_V->I 429 chr10:73569757:T:C 10080_8918_2973_V->A 429 chr10:73571116:T:C 10080_9137_3046_L->P 429 chr10:73571121:C:T 10080_9142_3048_R->W 429 chr10:73571169:C:A 10080_9190_3064_P->T 429 chr10:73572537:C:T 10080_9538_3180_R->C 429 chr10:73572538:G:A 10080_9539_3180_R->H 429 chr10:73572579:C:T 10080_9580_3194_R->W 429 chr10:73572583:C:T 10080_9584_3195_A->V 429 chr10:73573087:C:G 10080_9735_3245_C->W 429 chr10:73573101:C:T 10080_9749_3250_S->F 429 chr10:73574874:G:A 10080_9919_3307_E->K 429 oneKG Variants: 429 chr10:73553105:C:G 10080_6435_2145_Y->* 0.000199681 429 chr10:73199595:C:T 10080_7_3_R->C 0.136981 429 chr10:73199650:G:T 10080_62_21_C->F 0.000199681 429 chr10:73269866:A:G 10080_173_58_Q->R 0.0135783 429 chr10:73269914:C:A 10080_221_74_A->D 0.000199681 429 chr10:73269927:T:G 10080_234_78_F->L 0.000199681 429 chr10:73269949:G:A 10080_256_86_V->M 0.000199681 429 chr10:73269962:G:A 10080_269_90_R->Q 0.000199681 429 chr10:73270925:G:A 10080_385_129_A->T 0.000399361 429 chr10:73270926:C:T 10080_386_129_A->V 0.000399361 429 chr10:73270973:G:A 10080_433_145_G->R 0.00359425 429 chr10:73270982:G:A 10080_442_148_G->R 0.27476 429 chr10:73326529:G:A 10080_475_159_V->M 0.000199681 429 chr10:73326593:C:T 10080_539_180_S->F 0.000199681 429 chr10:73326604:G:A 10080_550_184_A->T 0.000199681 429 chr10:73326620:G:A 10080_566_189_R->H 0.000199681 429 chr10:73326643:G:C 10080_589_197_E->Q 0.000399361 429 chr10:73326686:A:C 10080_632_211_N->T 0.000998403 429 chr10:73330617:T:G 10080_710_237_M->R 0.000199681 429 chr10:73330641:C:T 10080_734_245_P->L 0.000199681 429 chr10:73337680:G:A 10080_778_260_V->M 0.000199681 429 chr10:73337684:G:A 10080_782_261_R->H 0.000399361 429 chr10:73337689:A:G 10080_787_263_I->V 0.000199681 429 chr10:73337695:G:A 10080_793_265_A->T 0.000199681 429 chr10:73337743:G:A 10080_841_281_V->I 0.000199681 429 chr10:73376998:G:A 10080_997_333_A->T 0.000399361 429 chr10:73377070:G:A 10080_1069_357_E->K 0.000599042 429 chr10:73377079:G:A 10080_1078_360_V->M 0.000199681 429 chr10:73377101:A:G 10080_1100_367_Q->R 0.000199681 429 chr10:73377112:G:A 10080_1111_371_A->T 0.00199681 429 chr10:73405598:G:A 10080_1166_389_S->N 0.000399361 429 chr10:73405642:A:T 10080_1210_404_I->F 0.000199681 429 chr10:73405688:G:A 10080_1256_419_R->Q 0.000199681 429 chr10:73405717:G:A 10080_1285_429_V->M 0.000599042 429 chr10:73405729:G:A 10080_1297_433_D->N 0.000998403 429 chr10:73406226:A:G 10080_1316_439_N->S 0.000998403 429 chr10:73406232:G:A 10080_1322_441_S->N 0.000998403 429 chr10:73406348:G:A 10080_1438_480_V->M 0.014377 429 chr10:73406349:T:C 10080_1439_480_V->A 0.000199681 429 chr10:73434873:C:T 10080_1469_490_T->I 0.000199681 429 chr10:73434888:G:C 10080_1484_495_G->A 0.185304 429 chr10:73434891:C:T 10080_1487_496_T->I 0.000199681 429 chr10:73434906:G:A 10080_1502_501_S->N 0.252396 429 chr10:73437279:G:T 10080_1596_532_Q->H 0.000199681 429 chr10:73437293:C:T 10080_1610_537_T->M 0.000599042 429 chr10:73437304:C:T 10080_1621_541_R->W 0.000199681 429 chr10:73437305:G:A 10080_1622_541_R->Q 0.000199681 429 chr10:73437319:G:A 10080_1636_546_E->K 0.000199681 429 chr10:73437326:C:A 10080_1643_548_T->N 0.000199681 429 chr10:73437335:G:A 10080_1652_551_R->Q 0.000199681 429 chr10:73437404:C:T 10080_1721_574_A->V 0.000199681 429 chr10:73439144:G:A 10080_1768_590_A->T 0.000199681 429 chr10:73439205:C:T 10080_1829_610_A->V 0.000199681 429 chr10:73439241:G:A 10080_1865_622_G->D 0.000399361 429 chr10:73442210:G:A 10080_1882_628_V->I 0.000199681 429 chr10:73442262:C:T 10080_1934_645_T->M 0.000399361 429 chr10:73447407:G:A 10080_2005_669_E->K 0.000199681 429 chr10:73447449:G:A 10080_2047_683_V->I 0.000199681 429 chr10:73450237:T:C 10080_2087_696_L->P 0.000199681 429 chr10:73450269:C:T 10080_2119_707_R->W 0.000199681 429 chr10:73450270:G:A 10080_2120_707_R->Q 0.000199681 429 chr10:73450336:G:A 10080_2186_729_R->H 0.000199681 429 chr10:73453937:A:G 10080_2225_742_E->G 0.000199681 429 chr10:73453963:G:A 10080_2251_751_V->I 0.000399361 429 chr10:73453966:C:T 10080_2254_752_R->C 0.000199681 429 chr10:73453978:G:A 10080_2266_756_G->R 0.000199681 429 chr10:73453990:C:T 10080_2278_760_H->Y 0.00139776 429 chr10:73455226:G:A 10080_2356_786_A->T 0.000399361 429 chr10:73455253:A:G 10080_2383_795_M->V 0.000199681 429 chr10:73461825:A:C 10080_2459_820_Y->S 0.000199681 429 chr10:73461927:A:G 10080_2561_854_E->G 0.000199681 429 chr10:73461949:C:G 10080_2583_861_I->M 0.00119808 429 chr10:73461953:G:A 10080_2587_863_V->I 0.000399361 429 chr10:73462447:A:G 10080_2744_915_Y->C 0.000199681 429 chr10:73464701:G:A 10080_2782_928_G->S 0.000599042 429 chr10:73464764:A:G 10080_2845_949_S->G 0.000599042 429 chr10:73464803:C:T 10080_2884_962_R->C 0.000199681 429 chr10:73464812:G:A 10080_2893_965_E->K 0.00199681 429 chr10:73464825:G:A 10080_2906_969_R->Q 0.000199681 429 chr10:73464873:C:T 10080_2954_985_T->M 0.000199681 429 chr10:73464885:A:G 10080_2966_989_H->R 0.000199681 429 chr10:73466671:G:A 10080_2986_996_E->K 0.000199681 429 chr10:73466710:G:A 10080_3025_1009_V->M 0.00199681 429 chr10:73466722:G:A 10080_3037_1013_V->M 0.000599042 429 chr10:73466729:G:A 10080_3044_1015_R->H 0.000399361 429 chr10:73466759:C:T 10080_3074_1025_T->M 0.000199681 429 chr10:73466774:G:A 10080_3089_1030_G->D 0.00279553 429 chr10:73468866:G:T 10080_3133_1045_D->Y 0.000199681 429 chr10:73468890:C:T 10080_3157_1053_R->C 0.000199681 429 chr10:73468927:G:A 10080_3194_1065_R->Q 0.000199681 429 chr10:73472431:C:T 10080_3245_1082_P->L 0.000199681 429 chr10:73472455:C:T 10080_3269_1090_T->I 0.000199681 429 chr10:73472494:A:G 10080_3308_1103_N->S 0.000998403 429 chr10:73472531:C:G 10080_3345_1115_S->R 0.000199681 429 chr10:73472553:G:A 10080_3367_1123_G->S 0.00179712 429 chr10:73472554:G:T 10080_3368_1123_G->V 0.000199681 429 chr10:73472562:A:T 10080_3376_1126_I->F 0.000599042 429 chr10:73472565:T:G 10080_3379_1127_L->V 0.00698882 429 chr10:73485150:G:A 10080_3467_1156_R->Q 0.000199681 429 chr10:73485178:G:T 10080_3495_1165_M->I 0.00219649 429 chr10:73485188:C:T 10080_3505_1169_R->W 0.000199681 429 chr10:73485206:C:T 10080_3523_1175_R->W 0.000399361 429 chr10:73485248:G:A 10080_3565_1189_D->N 0.000199681 429 chr10:73485272:G:A 10080_3589_1197_V->I 0.0081869 429 chr10:73490265:G:A 10080_3634_1212_V->M 0.014377 429 chr10:73490271:A:G 10080_3640_1214_T->A 0.0493211 429 chr10:73490310:G:A 10080_3679_1227_A->T 0.0107827 429 chr10:73490353:G:A 10080_3722_1241_R->Q 0.000199681 429 chr10:73491750:G:C 10080_3737_1246_G->A 0.000199681 429 chr10:73491792:A:T 10080_3779_1260_K->M 0.000399361 429 chr10:73491873:A:G 10080_3860_1287_N->S 0.00119808 429 chr10:73491923:G:A 10080_3910_1304_V->I 0.000199681 429 chr10:73491930:T:C 10080_3917_1306_I->T 0.000199681 429 chr10:73491999:A:G 10080_3986_1329_E->G 0.000199681 429 chr10:73492014:G:A 10080_4001_1334_G->D 0.000199681 429 chr10:73492028:C:T 10080_4015_1339_R->W 0.000599042 429 chr10:73492068:C:T 10080_4055_1352_T->M 0.000399361 429 chr10:73492073:C:T 10080_4060_1354_R->C 0.00179712 429 chr10:73492079:A:G 10080_4066_1356_N->D 0.217851 429 chr10:73498261:A:G 10080_4231_1411_I->V 0.000199681 429 chr10:73498295:G:A 10080_4265_1422_R->Q 0.000199681 429 chr10:73498330:C:T 10080_4300_1434_P->S 0.000199681 429 chr10:73498355:G:A 10080_4325_1442_R->Q 0.0521166 429 chr10:73498391:G:A 10080_4361_1454_G->D 0.000199681 429 chr10:73499432:C:T 10080_4406_1469_A->V 0.000199681 429 chr10:73499446:A:G 10080_4420_1474_I->V 0.000599042 429 chr10:73499473:G:A 10080_4447_1483_E->K 0.000199681 429 chr10:73499516:A:G 10080_4490_1497_H->R 0.000199681 429 chr10:73500588:T:A 10080_4513_1505_S->T 0.000399361 429 chr10:73500610:G:A 10080_4535_1512_R->Q 0.000199681 429 chr10:73500672:G:A 10080_4597_1533_E->K 0.000399361 429 chr10:73500679:C:T 10080_4604_1535_P->L 0.00159744 429 chr10:73501454:G:A 10080_4636_1546_V->M 0.000199681 429 chr10:73501470:C:T 10080_4652_1551_A->V 0.000199681 429 chr10:73501556:G:A 10080_4738_1580_A->T 0.271166 429 chr10:73501571:C:T 10080_4753_1585_R->C 0.000199681 429 chr10:73501589:G:A 10080_4771_1591_A->T 0.000199681 429 chr10:73501595:C:T 10080_4777_1593_R->W 0.000798722 429 chr10:73501620:G:A 10080_4802_1601_R->H 0.000199681 429 chr10:73501640:G:T 10080_4822_1608_V->L 0.000199681 429 chr10:73501646:A:G 10080_4828_1610_T->A 0.000199681 429 chr10:73501658:G:A 10080_4840_1614_E->K 0.000199681 429 chr10:73537449:G:A 10080_4873_1625_V->M 0.0123802 429 chr10:73537483:C:T 10080_4907_1636_A->V 0.000998403 429 chr10:73537609:C:T 10080_5033_1678_A->V 0.000199681 429 chr10:73537614:G:A 10080_5038_1680_V->I 0.132188 429 chr10:73537617:G:A 10080_5041_1681_A->T 0.00479233 429 chr10:73537641:C:T 10080_5065_1689_R->C 0.000199681 429 chr10:73537642:G:C 10080_5066_1689_R->P 0.000199681 429 chr10:73537657:T:C 10080_5081_1694_M->T 0.000798722 429 chr10:73537956:C:G 10080_5093_1698_T->S 0.000199681 429 chr10:73538009:G:A 10080_5146_1716_V->I 0.000399361 429 chr10:73538027:T:A 10080_5164_1722_C->S 0.000199681 429 chr10:73538046:G:A 10080_5183_1728_R->H 0.000199681 429 chr10:73538064:C:T 10080_5201_1734_T->M 0.000399361 429 chr10:73539064:C:A 10080_5243_1748_T->N 0.000199681 429 chr10:73539133:T:C 10080_5312_1771_F->S 0.00319489 429 chr10:73539148:G:A 10080_5327_1776_R->Q 0.00259585 429 chr10:73539170:G:C 10080_5349_1783_Q->H 0.000199681 429 chr10:73539199:C:T 10080_5378_1793_P->L 0.000199681 429 chr10:73544074:T:A 10080_5414_1805_V->E 0.000199681 429 chr10:73544085:C:T 10080_5425_1809_R->W 0.000599042 429 chr10:73544086:G:A 10080_5426_1809_R->Q 0.138978 429 chr10:73544093:C:G 10080_5433_1811_D->E 0.0239617 429 chr10:73544094:G:A 10080_5434_1812_V->M 0.00199681 429 chr10:73544122:T:C 10080_5462_1821_F->S 0.000199681 429 chr10:73544650:G:A 10080_5520_1840_M->I 0.000199681 429 chr10:73544663:C:T 10080_5533_1845_R->W 0.000199681 429 chr10:73544799:G:A 10080_5669_1890_R->H 0.000199681 429 chr10:73544805:C:T 10080_5675_1892_T->I 0.00359425 429 chr10:73544820:C:T 10080_5690_1897_A->V 0.000199681 429 chr10:73544835:G:A 10080_5705_1902_R->Q 0.000199681 429 chr10:73544837:G:A 10080_5707_1903_A->T 0.000199681 429 chr10:73545397:G:A 10080_5737_1913_V->I 0.000399361 429 chr10:73545410:G:A 10080_5750_1917_R->Q 0.000998403 429 chr10:73545428:G:A 10080_5768_1923_R->Q 0.00219649 429 chr10:73545470:C:T 10080_5810_1937_P->L 0.000199681 429 chr10:73545482:G:A 10080_5822_1941_R->H 0.000199681 429 chr10:73550066:A:G 10080_5960_1987_N->S 0.000199681 429 chr10:73550117:C:G 10080_6011_2004_T->S 0.345248 429 chr10:73550170:G:A 10080_6064_2022_G->S 0.000199681 429 chr10:73550919:T:C 10080_6095_2032_I->T 0.000199681 429 chr10:73550920:T:G 10080_6096_2032_I->M 0.000399361 429 chr10:73550925:G:A 10080_6101_2034_R->Q 0.000399361 429 chr10:73550937:C:T 10080_6113_2038_S->L 0.000399361 429 chr10:73550969:G:A 10080_6145_2049_E->K 0.332668 429 chr10:73551008:A:G 10080_6184_2062_I->V 0.00139776 429 chr10:73551009:T:C 10080_6185_2062_I->T 0.000199681 429 chr10:73551012:C:A 10080_6188_2063_T->N 0.000199681 429 chr10:73551036:G:A 10080_6212_2071_R->Q 0.0129792 429 chr10:73552960:C:T 10080_6290_2097_T->I 0.00179712 429 chr10:73553014:C:T 10080_6344_2115_A->V 0.00299521 429 chr10:73553197:G:A 10080_6527_2176_R->H 0.000199681 429 chr10:73553249:G:T 10080_6579_2193_E->D 0.000199681 429 chr10:73553254:G:A 10080_6584_2195_G->D 0.000199681 429 chr10:73553281:T:A 10080_6611_2204_I->N 0.00519169 429 chr10:73553331:G:A 10080_6661_2221_A->T 0.000199681 429 chr10:73553339:C:A 10080_6669_2223_D->E 0.000399361 429 chr10:73553340:G:A 10080_6670_2224_D->N 0.000199681 429 chr10:73553341:A:T 10080_6671_2224_D->V 0.000199681 429 chr10:73553350:G:A 10080_6680_2227_R->H 0.000199681 429 chr10:73553392:A:G 10080_6722_2241_N->S 0.000199681 429 chr10:73556890:C:T 10080_6757_2253_R->W 0.000399361 429 chr10:73556957:G:A 10080_6824_2275_R->H 0.000199681 429 chr10:73558128:G:A 10080_6862_2288_V->I 0.0367412 429 chr10:73558137:G:A 10080_6871_2291_V->I 0.000199681 429 chr10:73558192:G:A 10080_6926_2309_R->Q 0.000199681 429 chr10:73558330:C:T 10080_7064_2355_S->L 0.000199681 429 chr10:73558886:G:A 10080_7088_2363_R->Q 0.341254 429 chr10:73558945:G:A 10080_7147_2383_G->R 0.000798722 429 chr10:73558949:C:A 10080_7151_2384_S->Y 0.000199681 429 chr10:73558952:C:T 10080_7154_2385_P->L 0.328275 429 chr10:73559015:T:A 10080_7217_2406_I->N 0.000199681 429 chr10:73559022:C:A 10080_7224_2408_D->E 0.000199681 429 chr10:73560493:G:A 10080_7478_2493_R->H 0.000998403 429 chr10:73560496:G:A 10080_7481_2494_R->H 0.000199681 429 chr10:73560498:G:A 10080_7483_2495_E->K 0.000599042 429 chr10:73562724:G:A 10080_7567_2523_V->M 0.000399361 429 chr10:73562763:A:G 10080_7606_2536_M->V 0.000199681 429 chr10:73562823:C:G 10080_7666_2556_P->A 0.000199681 429 chr10:73562990:C:T 10080_7700_2567_S->L 0.000199681 429 chr10:73563067:G:C 10080_7777_2593_E->Q 0.00658946 429 chr10:73563115:G:A 10080_7825_2609_V->I 0.000199681 429 chr10:73563128:G:A 10080_7838_2613_R->H 0.000199681 429 chr10:73563149:C:G 10080_7859_2620_P->R 0.000199681 429 chr10:73563154:G:A 10080_7864_2622_G->S 0.000199681 429 chr10:73565581:A:C 10080_7906_2636_N->H 0.000399361 429 chr10:73565596:T:A 10080_7921_2641_Y->N 0.000199681 429 chr10:73565980:C:T 10080_8135_2712_P->L 0.00279553 429 chr10:73566027:G:C 10080_8182_2728_V->L 0.00199681 429 chr10:73567048:G:C 10080_8208_2736_Q->H 0.000199681 429 chr10:73567145:G:A 10080_8305_2769_V->M 0.000599042 429 chr10:73567323:G:C 10080_8374_2792_V->L 0.000199681 429 chr10:73567342:G:A 10080_8393_2798_R->Q 0.000199681 429 chr10:73567353:G:A 10080_8404_2802_A->T 0.000199681 429 chr10:73567365:T:C,G 10080_8416_2806_F->L 0.000399361 429 chr10:73567365:T:C,G 10080_8416_2806_F->V 0.000399361 429 chr10:73567371:G:A 10080_8422_2808_V->I 0.000399361 429 chr10:73567401:C:T 10080_8452_2818_P->S 0.000199681 429 chr10:73567408:G:A 10080_8459_2820_R->H 0.000199681 429 chr10:73567429:A:G 10080_8480_2827_D->G 0.000199681 429 chr10:73567462:G:A 10080_8513_2838_R->H 0.000199681 429 chr10:73567464:G:A 10080_8515_2839_V->I 0.000199681 429 chr10:73567717:G:A 10080_8690_2897_R->Q 0.000399361 429 chr10:73569597:C:T 10080_8758_2920_R->C 0.000399361 429 chr10:73569598:G:A 10080_8759_2920_R->H 0.000199681 429 chr10:73569731:C:G 10080_8892_2964_I->M 0.000199681 429 chr10:73570263:C:G 10080_9029_3010_A->G 0.00279553 429 chr10:73570307:C:T 10080_9073_3025_R->C 0.000199681 429 chr10:73571122:G:A 10080_9143_3048_R->Q 0.000399361 429 chr10:73571126:C:G 10080_9147_3049_N->K 0.000199681 429 chr10:73571133:G:A 10080_9154_3052_V->I 0.000199681 429 chr10:73571141:C:G 10080_9162_3054_D->E 0.000199681 429 chr10:73571142:G:T 10080_9163_3055_V->L 0.000199681 429 chr10:73571307:G:A 10080_9253_3085_A->T 0.00299521 429 chr10:73571482:G:T 10080_9306_3102_K->N 0.000199681 429 chr10:73571727:T:C 10080_9350_3117_I->T 0.000199681 429 chr10:73571765:T:C 10080_9388_3130_F->L 0.0954473 429 chr10:73572269:G:A 10080_9428_3143_R->Q 0.000599042 429 chr10:73572538:G:A 10080_9539_3180_R->H 0.000199681 429 chr10:73572631:G:A 10080_9632_3211_R->H 0.000199681 429 chr10:73572643:T:C 10080_9644_3215_I->T 0.000199681 429 chr10:73573038:G:A 10080_9686_3229_R->Q 0.000199681 429 chr10:73574728:A:C 10080_9773_3258_D->A 0.0071885 429 chr10:73574769:C:T 10080_9814_3272_R->C 0.000199681 429 chr10:73574775:C:T 10080_9820_3274_R->C 0.000199681 429 chr10:73574829:G:A 10080_9874_3292_G->S 0.000199681 429 chr10:73574830:G:A 10080_9875_3292_G->D 0.000199681 429 chr10:73574835:A:G 10080_9880_3294_T->A 0.000998403 429 chr10:73574898:C:T 10080_9943_3315_R->C 0.000199681 429 chr10:73574899:G:A 10080_9944_3315_R->H 0.000199681 429 chr10:73574919:G:A 10080_9964_3322_A->T 0.000199681 429 chr10:73574949:G:A 10080_9994_3332_A->T 0.000199681 429 chr10:73574953:G:A 10080_9998_3333_R->H 0.000798722 429 chr10:73574964:G:A 10080_10009_3337_A->T 0.000199681 429 chr10:73574994:G:A 10080_10039_3347_D->N 0.000399361 429 chr10:73575006:G:C 10080_10051_3351_E->Q 0.00139776 429 na12878 Variants: 429 chr10:73434888:G:C 10080_1484_495_G->A 429 chr10:73492079:A:G 10080_4066_1356_N->D 429 chr10:73501556:G:A 10080_4738_1580_A->T 429 chr10:73550969:G:A 10080_6145_2049_E->K 429 chr10:73558128:G:A 10080_6862_2288_V->I 429 chr10:73558886:G:A 10080_7088_2363_R->Q 429 chr10:73558952:C:T 10080_7154_2385_P->L 429 chr10:73270982:G:A 10080_442_148_G->R 429 snyder Variants: 429 chr10:73434888:G:C 10080_1484_495_G->A 429 chr10:73550117:C:G 10080_6011_2004_T->S 429 chr10:73199595:C:T 10080_7_3_R->C 429 chr10:73537614:G:A 10080_5038_1680_V->I 430 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000151208_ENST00000372391 gene_Name: DLG5_HUMAN 430 list of pdbs: 430 1UIT pdb_description: 22-Jan-04 NMR 20 Solution structure of rsgi ruh-006, the third pdz domain of hdlg5 (kiaa0583) protein [homo sapiens] 430 Zimmer Variants: 430 chr10:79616605:T:C 5760_419_140_Q->R;GNEG=Yes;GENE=DLG5;CDSS=2;DBRECUR=DLG5 430 HGMD Variants: 430 chr10:79570873:G:T 5760_4442_1481_P->Q 430 chr10:79616605:T:C 5760_419_140_Q->R 430 oneKG Variants: 430 chr10:79552206:G:A 5760_5752_1918_P->S 0.000798722 430 chr10:79552234:T:A 5760_5724_1908_Q->H 0.000199681 430 chr10:79552248:C:T 5760_5710_1904_V->I 0.00239617 430 chr10:79555913:C:T 5760_5342_1781_R->Q 0.000199681 430 chr10:79556301:A:G 5760_5216_1739_L->P 0.0135783 430 chr10:79556305:C:T 5760_5212_1738_A->T 0.0139776 430 chr10:79565468:G:C 5760_5119_1707_L->V 0.000199681 430 chr10:79565531:G:A 5760_5056_1686_R->W 0.000199681 430 chr10:79565561:C:T 5760_5026_1676_A->T 0.000199681 430 chr10:79565566:T:C 5760_5021_1674_N->S 0.000998403 430 chr10:79566540:C:T 5760_4943_1648_R->H 0.000199681 430 chr10:79566594:G:A 5760_4889_1630_T->M 0.000399361 430 chr10:79566664:C:T 5760_4819_1607_D->N 0.00179712 430 chr10:79566672:C:T 5760_4811_1604_R->Q 0.000199681 430 chr10:79566684:G:A 5760_4799_1600_A->V 0.0117812 430 chr10:79567588:C:A 5760_4762_1588_A->S 0.000998403 430 chr10:79567687:C:T 5760_4663_1555_V->M 0.000199681 430 chr10:79569346:T:C 5760_4606_1536_K->E 0.000199681 430 chr10:79569360:T:C 5760_4592_1531_D->G 0.000199681 430 chr10:79570873:G:T 5760_4442_1481_P->Q 0.067492 430 chr10:79570888:C:A 5760_4427_1476_G->V 0.000199681 430 chr10:79570926:A:T 5760_4389_1463_H->Q 0.000199681 430 chr10:79570934:G:A 5760_4381_1461_P->S 0.000199681 430 chr10:79570951:C:T 5760_4364_1455_G->D 0.000199681 430 chr10:79571689:G:A 5760_4315_1439_R->W 0.000199681 430 chr10:79571716:G:C 5760_4288_1430_H->D 0.000199681 430 chr10:79571761:C:T 5760_4243_1415_G->R 0.000199681 430 chr10:79572119:G:A 5760_4042_1348_P->S 0.000199681 430 chr10:79576322:G:A 5760_4012_1338_R->W 0.000199681 430 chr10:79576328:C:G 5760_4006_1336_G->R 0.000199681 430 chr10:79576454:C:A 5760_3880_1294_V->L 0.00139776 430 chr10:79577561:T:C 5760_3758_1253_N->S 0.000199681 430 chr10:79579104:C:T 5760_3646_1216_A->T 0.000399361 430 chr10:79579115:G:A 5760_3635_1212_A->V 0.000199681 430 chr10:79579211:C:T 5760_3539_1180_R->Q 0.000199681 430 chr10:79579212:G:A 5760_3538_1180_R->W 0.000399361 430 chr10:79579695:G:A 5760_3484_1162_R->W 0.000399361 430 chr10:79579740:G:A 5760_3439_1147_P->S 0.000199681 430 chr10:79579760:G:A 5760_3419_1140_P->L 0.000199681 430 chr10:79580856:G:A 5760_3386_1129_P->L 0.000199681 430 chr10:79580883:C:G 5760_3359_1120_R->P 0.000199681 430 chr10:79580907:C:T 5760_3335_1112_R->Q 0.000399361 430 chr10:79580908:G:A 5760_3334_1112_R->W 0.000199681 430 chr10:79580950:G:A 5760_3292_1098_L->F 0.000199681 430 chr10:79580969:C:A 5760_3273_1091_K->N 0.000199681 430 chr10:79580976:G:A 5760_3266_1089_P->L 0.00579073 430 chr10:79581027:C:T 5760_3215_1072_R->H 0.000199681 430 chr10:79581028:G:A 5760_3214_1072_R->C 0.000199681 430 chr10:79581049:G:C 5760_3193_1065_P->A 0.000199681 430 chr10:79581055:C:T 5760_3187_1063_A->T 0.000199681 430 chr10:79581094:C:T 5760_3148_1050_A->T 0.000199681 430 chr10:79581157:C:T 5760_3085_1029_E->K 0.000199681 430 chr10:79581223:C:T 5760_3019_1007_A->T 0.000199681 430 chr10:79581241:G:A 5760_3001_1001_P->S 0.000199681 430 chr10:79581247:G:A 5760_2995_999_H->Y 0.000199681 430 chr10:79581274:A:G 5760_2968_990_Y->H 0.000399361 430 chr10:79581282:T:C 5760_2960_987_K->R 0.00119808 430 chr10:79581285:G:C 5760_2957_986_P->R 0.000199681 430 chr10:79581409:C:T 5760_2833_945_G->R 0.000199681 430 chr10:79581412:C:T 5760_2830_944_G->S 0.000199681 430 chr10:79581414:C:G 5760_2828_943_S->T 0.000199681 430 chr10:79581447:G:C 5760_2795_932_S->C 0.000599042 430 chr10:79581510:C:T 5760_2732_911_R->H 0.000599042 430 chr10:79581511:G:A 5760_2731_911_R->C 0.000798722 430 chr10:79581514:C:T 5760_2728_910_V->M 0.000199681 430 chr10:79581535:G:A 5760_2707_903_R->C 0.000199681 430 chr10:79581555:C:T 5760_2687_896_R->H 0.000199681 430 chr10:79581561:G:C 5760_2681_894_S->C 0.000199681 430 chr10:79581573:C:T 5760_2669_890_R->H 0.000599042 430 chr10:79581574:G:A 5760_2668_890_R->C 0.000199681 430 chr10:79581596:C:G 5760_2646_882_Q->H 0.000199681 430 chr10:79581689:C:G 5760_2553_851_R->S 0.000399361 430 chr10:79581701:G:T 5760_2541_847_F->L 0.000199681 430 chr10:79581754:G:A 5760_2488_830_H->Y 0.000998403 430 chr10:79581768:G:A 5760_2474_825_P->L 0.000199681 430 chr10:79581823:T:C 5760_2419_807_I->V 0.000199681 430 chr10:79584179:C:T 5760_2345_782_R->H 0.00159744 430 chr10:79588645:C:T 5760_2284_762_V->I 0.000399361 430 chr10:79590056:A:G 5760_1928_643_V->A 0.000199681 430 chr10:79590510:C:G 5760_1870_624_E->Q 0.00579073 430 chr10:79590582:T:C 5760_1798_600_M->V 0.000199681 430 chr10:79590597:G:A 5760_1783_595_R->W 0.000199681 430 chr10:79590617:G:A 5760_1763_588_S->F 0.000199681 430 chr10:79593715:G:A 5760_1705_569_R->C 0.000399361 430 chr10:79593783:T:A 5760_1637_546_N->I 0.000599042 430 chr10:79595509:G:A 5760_1609_537_R->C 0.000199681 430 chr10:79595554:G:A 5760_1564_522_R->W 0.000199681 430 chr10:79595670:G:A 5760_1448_483_T->M 0.000199681 430 chr10:79601707:C:T 5760_1369_457_E->K 0.000199681 430 chr10:79601811:C:T 5760_1265_422_R->K 0.000199681 430 chr10:79601916:G:A 5760_1160_387_T->M 0.000399361 430 chr10:79601934:T:C 5760_1142_381_H->R 0.000199681 430 chr10:79603430:T:C 5760_899_300_N->S 0.000199681 430 chr10:79613133:G:T 5760_843_281_D->E 0.000199681 430 chr10:79613240:T:C 5760_736_246_M->V 0.000199681 430 chr10:79613285:T:C 5760_691_231_S->G 0.000199681 430 chr10:79614044:G:C 5760_621_207_N->K 0.000199681 430 chr10:79614079:C:T 5760_586_196_V->M 0.000798722 430 chr10:79614096:C:T 5760_569_190_R->K 0.000199681 430 chr10:79616500:G:A 5760_524_175_A->V 0.000199681 430 chr10:79616552:G:A 5760_472_158_R->W 0.000199681 430 chr10:79616605:T:C 5760_419_140_Q->R 0.034345 430 chr10:79686026:T:C 5760_253_85_I->V 0.000798722 430 na12878 Variants: 430 chr10:79616605:T:C 5760_419_140_Q->R 430 snyder Variants: 430 chr10:79616605:T:C 5760_419_140_Q->R 431 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000151208_ENST00000372388 gene_Name: DLG5_HUMAN 431 list of pdbs: 431 1UIT pdb_description: 22-Jan-04 NMR 20 Solution structure of rsgi ruh-006, the third pdz domain of hdlg5 (kiaa0583) protein [homo sapiens] 431 Zimmer Variants: 431 chr10:79616605:T:C 4740_419_140_Q->R 431 HGMD Variants: 431 chr10:79570873:G:T 4740_3422_1141_P->Q 431 chr10:79616605:T:C 4740_419_140_Q->R 431 oneKG Variants: 431 chr10:79552206:G:A 4740_4732_1578_P->S 0.000798722 431 chr10:79552234:T:A 4740_4704_1568_Q->H 0.000199681 431 chr10:79552248:C:T 4740_4690_1564_V->I 0.00239617 431 chr10:79555913:C:T 4740_4322_1441_R->Q 0.000199681 431 chr10:79556301:A:G 4740_4196_1399_L->P 0.0135783 431 chr10:79556305:C:T 4740_4192_1398_A->T 0.0139776 431 chr10:79565468:G:C 4740_4099_1367_L->V 0.000199681 431 chr10:79565531:G:A 4740_4036_1346_R->W 0.000199681 431 chr10:79565561:C:T 4740_4006_1336_A->T 0.000199681 431 chr10:79565566:T:C 4740_4001_1334_N->S 0.000998403 431 chr10:79566540:C:T 4740_3923_1308_R->H 0.000199681 431 chr10:79566594:G:A 4740_3869_1290_T->M 0.000399361 431 chr10:79566664:C:T 4740_3799_1267_D->N 0.00179712 431 chr10:79566672:C:T 4740_3791_1264_R->Q 0.000199681 431 chr10:79566684:G:A 4740_3779_1260_A->V 0.0117812 431 chr10:79567588:C:A 4740_3742_1248_A->S 0.000998403 431 chr10:79567687:C:T 4740_3643_1215_V->M 0.000199681 431 chr10:79569346:T:C 4740_3586_1196_K->E 0.000199681 431 chr10:79569360:T:C 4740_3572_1191_D->G 0.000199681 431 chr10:79570873:G:T 4740_3422_1141_P->Q 0.067492 431 chr10:79570888:C:A 4740_3407_1136_G->V 0.000199681 431 chr10:79570926:A:T 4740_3369_1123_H->Q 0.000199681 431 chr10:79570934:G:A 4740_3361_1121_P->S 0.000199681 431 chr10:79570951:C:T 4740_3344_1115_G->D 0.000199681 431 chr10:79571689:G:A 4740_3295_1099_R->W 0.000199681 431 chr10:79571716:G:C 4740_3268_1090_H->D 0.000199681 431 chr10:79571761:C:T 4740_3223_1075_G->R 0.000199681 431 chr10:79572119:G:A 4740_3022_1008_P->S 0.000199681 431 chr10:79576322:G:A 4740_2992_998_R->W 0.000199681 431 chr10:79576328:C:G 4740_2986_996_G->R 0.000199681 431 chr10:79576454:C:A 4740_2860_954_V->L 0.00139776 431 chr10:79577561:T:C 4740_2738_913_N->S 0.000199681 431 chr10:79579104:C:T 4740_2626_876_A->T 0.000399361 431 chr10:79579115:G:A 4740_2615_872_A->V 0.000199681 431 chr10:79579211:C:T 4740_2519_840_R->Q 0.000199681 431 chr10:79579212:G:A 4740_2518_840_R->W 0.000399361 431 chr10:79579695:G:A 4740_2464_822_R->W 0.000399361 431 chr10:79579740:G:A 4740_2419_807_P->S 0.000199681 431 chr10:79579760:G:A 4740_2399_800_P->L 0.000199681 431 chr10:79584179:C:T 4740_2345_782_R->H 0.00159744 431 chr10:79588645:C:T 4740_2284_762_V->I 0.000399361 431 chr10:79590056:A:G 4740_1928_643_V->A 0.000199681 431 chr10:79590510:C:G 4740_1870_624_E->Q 0.00579073 431 chr10:79590582:T:C 4740_1798_600_M->V 0.000199681 431 chr10:79590597:G:A 4740_1783_595_R->W 0.000199681 431 chr10:79590617:G:A 4740_1763_588_S->F 0.000199681 431 chr10:79593715:G:A 4740_1705_569_R->C 0.000399361 431 chr10:79593783:T:A 4740_1637_546_N->I 0.000599042 431 chr10:79595509:G:A 4740_1609_537_R->C 0.000199681 431 chr10:79595554:G:A 4740_1564_522_R->W 0.000199681 431 chr10:79595670:G:A 4740_1448_483_T->M 0.000199681 431 chr10:79601707:C:T 4740_1369_457_E->K 0.000199681 431 chr10:79601811:C:T 4740_1265_422_R->K 0.000199681 431 chr10:79601916:G:A 4740_1160_387_T->M 0.000399361 431 chr10:79601934:T:C 4740_1142_381_H->R 0.000199681 431 chr10:79603430:T:C 4740_899_300_N->S 0.000199681 431 chr10:79613133:G:T 4740_843_281_D->E 0.000199681 431 chr10:79613240:T:C 4740_736_246_M->V 0.000199681 431 chr10:79613285:T:C 4740_691_231_S->G 0.000199681 431 chr10:79614044:G:C 4740_621_207_N->K 0.000199681 431 chr10:79614079:C:T 4740_586_196_V->M 0.000798722 431 chr10:79614096:C:T 4740_569_190_R->K 0.000199681 431 chr10:79616500:G:A 4740_524_175_A->V 0.000199681 431 chr10:79616552:G:A 4740_472_158_R->W 0.000199681 431 chr10:79616605:T:C 4740_419_140_Q->R 0.034345 431 chr10:79686026:T:C 4740_253_85_I->V 0.000798722 431 na12878 Variants: 431 chr10:79616605:T:C 4740_419_140_Q->R 431 snyder Variants: 431 chr10:79616605:T:C 4740_419_140_Q->R 432 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155256_ENST00000337540 gene_Name: ZFY27_HUMAN 432 list of pdbs: 432 1X4U pdb_description: 15-Nov-05 NMR 20 Solution structure of the fyve domain from human fyve domain containing 27 isoform b protein 432 Zimmer Variants: 432 chr10:99504630:G:T 1119_317_106_G->V 432 HGMD Variants: 432 chr10:99509251:G:T 1119_476_159_G->V 432 oneKG Variants: 432 chr10:99498266:C:T 1119_32_11_P->L 0.0061901 432 chr10:99498296:C:T 1119_62_21_A->V 0.00239617 432 chr10:99498313:C:G 1119_79_27_P->A 0.00119808 432 chr10:99498329:C:T 1119_95_32_S->F 0.000199681 432 chr10:99498362:C:T 1119_128_43_S->F 0.000798722 432 chr10:99504507:C:T 1119_194_65_A->V 0.000199681 432 chr10:99504597:A:G 1119_284_95_Y->C 0.000399361 432 chr10:99504630:G:T 1119_317_106_G->V 0.303514 432 chr10:99504641:C:T 1119_328_110_R->C 0.000199681 432 chr10:99504647:G:A 1119_334_112_E->K 0.000199681 432 chr10:99508078:G:A 1119_412_138_A->T 0.000399361 432 chr10:99508111:G:A 1119_445_149_V->M 0.000399361 432 chr10:99509236:A:G 1119_461_154_Y->C 0.000199681 432 chr10:99509251:G:T 1119_476_159_G->V 0.0261581 432 chr10:99509323:G:T 1119_548_183_G->V 0.000199681 432 chr10:99509341:G:A 1119_566_189_R->Q 0.000199681 432 chr10:99510165:C:T 1119_646_216_P->S 0.000199681 432 chr10:99511212:C:T 1119_773_258_A->V 0.000199681 432 chr10:99512922:A:G 1119_908_303_Y->C 0.000199681 432 chr10:99517024:A:T 1119_928_310_N->Y 0.000199681 432 na12878 Variants: 432 chr10:99504630:G:T 1119_317_106_G->V 432 snyder Variants: 432 chr10:99504630:G:T 1119_317_106_G->V 433 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155256_ENST00000370610 gene_Name: ZFY27_HUMAN 433 list of pdbs: 433 1X4U pdb_description: 15-Nov-05 NMR 20 Solution structure of the fyve domain from human fyve domain containing 27 isoform b protein 433 Zimmer Variants: 433 chr10:99504630:G:T 936_119_40_G->V;GENE=ZFYVE27;CDSS=2 433 HGMD Variants: 433 chr10:99509251:G:T 936_278_93_G->V 433 oneKG Variants: 433 chr10:99504597:A:G 936_86_29_Y->C 0.000399361 433 chr10:99504630:G:T 936_119_40_G->V 0.303514 433 chr10:99504641:C:T 936_130_44_R->C 0.000199681 433 chr10:99504647:G:A 936_136_46_E->K 0.000199681 433 chr10:99508078:G:A 936_214_72_A->T 0.000399361 433 chr10:99508111:G:A 936_247_83_V->M 0.000399361 433 chr10:99509236:A:G 936_263_88_Y->C 0.000199681 433 chr10:99509251:G:T 936_278_93_G->V 0.0261581 433 chr10:99509323:G:T 936_350_117_G->V 0.000199681 433 chr10:99509341:G:A 936_368_123_R->Q 0.000199681 433 chr10:99510165:C:T 936_448_150_P->S 0.000199681 433 chr10:99511143:C:T 936_521_174_S->F 0.000199681 433 chr10:99511212:C:T 936_590_197_A->V 0.000199681 433 chr10:99512922:A:G 936_725_242_Y->C 0.000199681 433 chr10:99517024:A:T 936_745_249_N->Y 0.000199681 433 na12878 Variants: 433 chr10:99504630:G:T 936_119_40_G->V 433 snyder Variants: 433 chr10:99504630:G:T 936_119_40_G->V 434 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155256_ENST00000393677 gene_Name: ZFY27_HUMAN 434 list of pdbs: 434 1X4U pdb_description: 15-Nov-05 NMR 20 Solution structure of the fyve domain from human fyve domain containing 27 isoform b protein 434 Zimmer Variants: 434 chr10:99504630:G:T 1236_413_138_G->V 434 HGMD Variants: 434 chr10:99509251:G:T 1236_572_191_G->V 434 oneKG Variants: 434 chr10:99498266:C:T 1236_32_11_P->L 0.0061901 434 chr10:99498296:C:T 1236_62_21_A->V 0.00239617 434 chr10:99498313:C:G 1236_79_27_P->A 0.00119808 434 chr10:99498329:C:T 1236_95_32_S->F 0.000199681 434 chr10:99498362:C:T 1236_128_43_S->F 0.000798722 434 chr10:99498412:G:A 1236_178_60_G->S 0.000199681 434 chr10:99502891:C:T 1236_238_80_L->F 0.00119808 434 chr10:99502895:A:G 1236_242_81_N->S 0.000199681 434 chr10:99502897:G:A 1236_244_82_V->I 0.0367412 434 chr10:99504507:C:T 1236_290_97_A->V 0.000199681 434 chr10:99504597:A:G 1236_380_127_Y->C 0.000399361 434 chr10:99504630:G:T 1236_413_138_G->V 0.303514 434 chr10:99504641:C:T 1236_424_142_R->C 0.000199681 434 chr10:99504647:G:A 1236_430_144_E->K 0.000199681 434 chr10:99508078:G:A 1236_508_170_A->T 0.000399361 434 chr10:99508111:G:A 1236_541_181_V->M 0.000399361 434 chr10:99509236:A:G 1236_557_186_Y->C 0.000199681 434 chr10:99509251:G:T 1236_572_191_G->V 0.0261581 434 chr10:99509323:G:T 1236_644_215_G->V 0.000199681 434 chr10:99509341:G:A 1236_662_221_R->Q 0.000199681 434 chr10:99510165:C:T 1236_742_248_P->S 0.000199681 434 chr10:99511212:C:T 1236_869_290_A->V 0.000199681 434 chr10:99512922:A:G 1236_1025_342_Y->C 0.000199681 434 chr10:99517024:A:T 1236_1045_349_N->Y 0.000199681 434 na12878 Variants: 434 chr10:99504630:G:T 1236_413_138_G->V 434 snyder Variants: 434 chr10:99504630:G:T 1236_413_138_G->V 435 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155256_ENST00000359980 gene_Name: ZFY27_HUMAN 435 list of pdbs: 435 1X4U pdb_description: 15-Nov-05 NMR 20 Solution structure of the fyve domain from human fyve domain containing 27 isoform b protein 435 Zimmer Variants: 435 chr10:99504630:G:T 1215_413_138_G->V 435 HGMD Variants: 435 chr10:99509251:G:T 1215_572_191_G->V 435 oneKG Variants: 435 chr10:99498266:C:T 1215_32_11_P->L 0.0061901 435 chr10:99498296:C:T 1215_62_21_A->V 0.00239617 435 chr10:99498313:C:G 1215_79_27_P->A 0.00119808 435 chr10:99498329:C:T 1215_95_32_S->F 0.000199681 435 chr10:99498362:C:T 1215_128_43_S->F 0.000798722 435 chr10:99498412:G:A 1215_178_60_G->S 0.000199681 435 chr10:99502891:C:T 1215_238_80_L->F 0.00119808 435 chr10:99502895:A:G 1215_242_81_N->S 0.000199681 435 chr10:99502897:G:A 1215_244_82_V->I 0.0367412 435 chr10:99504507:C:T 1215_290_97_A->V 0.000199681 435 chr10:99504597:A:G 1215_380_127_Y->C 0.000399361 435 chr10:99504630:G:T 1215_413_138_G->V 0.303514 435 chr10:99504641:C:T 1215_424_142_R->C 0.000199681 435 chr10:99504647:G:A 1215_430_144_E->K 0.000199681 435 chr10:99508078:G:A 1215_508_170_A->T 0.000399361 435 chr10:99508111:G:A 1215_541_181_V->M 0.000399361 435 chr10:99509236:A:G 1215_557_186_Y->C 0.000199681 435 chr10:99509251:G:T 1215_572_191_G->V 0.0261581 435 chr10:99509323:G:T 1215_644_215_G->V 0.000199681 435 chr10:99509341:G:A 1215_662_221_R->Q 0.000199681 435 chr10:99510165:C:T 1215_742_248_P->S 0.000199681 435 chr10:99511212:C:T 1215_869_290_A->V 0.000199681 435 chr10:99512922:A:G 1215_1004_335_Y->C 0.000199681 435 chr10:99517024:A:T 1215_1024_342_N->Y 0.000199681 435 na12878 Variants: 435 chr10:99504630:G:T 1215_413_138_G->V 435 snyder Variants: 435 chr10:99504630:G:T 1215_413_138_G->V 436 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000155256_ENST00000356257 gene_Name: ZFY27_HUMAN 436 list of pdbs: 436 1X4U pdb_description: 15-Nov-05 NMR 20 Solution structure of the fyve domain from human fyve domain containing 27 isoform b protein 436 Zimmer Variants: 436 chr10:99504630:G:T 1251_413_138_G->V 436 HGMD Variants: 436 chr10:99509251:G:T 1251_572_191_G->V 436 oneKG Variants: 436 chr10:99498266:C:T 1251_32_11_P->L 0.0061901 436 chr10:99498296:C:T 1251_62_21_A->V 0.00239617 436 chr10:99498313:C:G 1251_79_27_P->A 0.00119808 436 chr10:99498329:C:T 1251_95_32_S->F 0.000199681 436 chr10:99498362:C:T 1251_128_43_S->F 0.000798722 436 chr10:99498412:G:A 1251_178_60_G->S 0.000199681 436 chr10:99502891:C:T 1251_238_80_L->F 0.00119808 436 chr10:99502895:A:G 1251_242_81_N->S 0.000199681 436 chr10:99502897:G:A 1251_244_82_V->I 0.0367412 436 chr10:99504507:C:T 1251_290_97_A->V 0.000199681 436 chr10:99504597:A:G 1251_380_127_Y->C 0.000399361 436 chr10:99504630:G:T 1251_413_138_G->V 0.303514 436 chr10:99504641:C:T 1251_424_142_R->C 0.000199681 436 chr10:99504647:G:A 1251_430_144_E->K 0.000199681 436 chr10:99508078:G:A 1251_508_170_A->T 0.000399361 436 chr10:99508111:G:A 1251_541_181_V->M 0.000399361 436 chr10:99509236:A:G 1251_557_186_Y->C 0.000199681 436 chr10:99509251:G:T 1251_572_191_G->V 0.0261581 436 chr10:99509323:G:T 1251_644_215_G->V 0.000199681 436 chr10:99509341:G:A 1251_662_221_R->Q 0.000199681 436 chr10:99510165:C:T 1251_742_248_P->S 0.000199681 436 chr10:99511143:C:T 1251_815_272_S->F 0.000199681 436 chr10:99511212:C:T 1251_884_295_A->V 0.000199681 436 chr10:99512922:A:G 1251_1040_347_Y->C 0.000199681 436 chr10:99517024:A:T 1251_1060_354_N->Y 0.000199681 436 na12878 Variants: 436 chr10:99504630:G:T 1251_413_138_G->V 436 snyder Variants: 436 chr10:99504630:G:T 1251_413_138_G->V 437 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000149968_ENST00000299855 gene_Name: MMP3_HUMAN 437 list of pdbs: 437 4JA1 pdb_description: 27-Feb-13 X-ray 1.960 Structure of mmp3 complexed with a platinum-based inhibitor 437 4G9L pdb_description: 29-May-13 X-ray 1.880 Structure of mmp3 complexed with nngh inhibitor. 437 4DPE pdb_description: 20-Feb-13 X-ray 1.960 Structure of mmp3 complexed with a platinum-based inhibitor. 437 3USN pdb_description: 20-Jan-99 NMR 1 Structure of the catalytic domain of human fibroblast stromelysin-1 inhibited with the thiadiazole inhibitor ipnu-107859, nmr, 1 structure 437 3OHO pdb_description: 29-Jun-11 X-ray 2.500 Catalytic domain of stromelysin-1 in complex with n-hydroxy- methylphenylsulfonamido)acetamide 437 3OHL pdb_description: 29-Jun-11 X-ray 2.360 Catalytic domain of stromelysin-1 in complex with n-hydroxy- methoxy-n-(pyridine-3-ylmethyl)phenylsulfonamido)acetamide 437 2USN pdb_description: 23-Dec-98 X-ray 2.200 Crystal structure of the catalytic domain of human fibroblast stromelysin-1 inhibited with thiadiazole inhibitor pnu-141803 437 2SRT pdb_description: 10-Jul-95 NMR 30 Catalytic domain of human stromelysin-1 at ph 5.5 and 40oc c with inhibitor 437 2JT6 pdb_description: 19-Feb-08 NMR 1 Solution structure of matrix metalloproteinase 3 (mmp-3) in the presence of 3-4'-cyanobyphenyl-4-yloxy)-n- hdydroxypropionamide (mmp-3 inhibitor vii) 437 2JT5 pdb_description: 19-Feb-08 NMR 1 Solution structure of matrix metalloproteinase 3 (mmp-3) in the presence of n-hydroxy-2-[n-(2-hydroxyethyl)biphenyl-4- sulfonamide] hydroxamic acid (mlc88) 437 2JNP pdb_description: 11-Dec-07 NMR 25 Solution structure of matrix metalloproteinase 3 (mmp-3) in the presence of n-isobutyl-n-[4- methoxyphenylsulfonyl]glycyl hydroxamic acid (nngh) 437 2D1O pdb_description: 27-Jun-06 X-ray 2.020 Stromelysin-1 (mmp-3) complexed to a hydroxamic acid inhibitor 437 1USN pdb_description: 23-Dec-98 X-ray 1.800 Crystal structure of the catalytic domain of human fibroblas stromelysin-1 inhibited with thiadiazole inhibitor pnu-1423 437 1UMT pdb_description: 08-Mar-96 NMR 1 Stromelysin-1 catalytic domain with hydrophobic inhibitor bo 7.0, 32oc, 20 mm cacl2, 15% acetonitrile; nmr average of 20 structures minimized with restraints 437 1UMS pdb_description: 08-Mar-96 NMR 20 Stromelysin-1 catalytic domain with hydrophobic inhibitor bound, ph 7.0, 32oc, 20 mm cacl2, 15% acetonitrile; nmr ensemble of 20 structures 437 1UEA pdb_description: 14-Oct-98 X-ray 2.800 Mmp-3/timp-1 complex 437 1SLN pdb_description: 17-Dec-96 X-ray 2.270 Crystal structure of the catalytic domain of human fibroblas stromelysin-1 inhibited with the n-carboxy-alkyl inhibitor 437 1SLM pdb_description: 17-Dec-96 X-ray 1.900 Crystal structure of fibroblast stromelysin-1: thE C-truncat proenzyme 437 1QIC pdb_description: 11-Feb-03 X-ray 2.000 Crystal structure of stromelysin catalytic domain 437 1QIA pdb_description: 11-Feb-03 X-ray 2.000 Crystal structure of stromelysin catalytic domain 437 1OO9 pdb_description: 29-Jul-03 NMR 1 Orientation in solution of mmp-3 catalytic domain and n- timp-1 from residual dipolar couplings 437 1M1W pdb_description: 05-Jul-02 Theoret model Molecular dynamics of mmp-3, adam-9 and adam-10: new implications on familiarity, structure, function and substrate affinity 437 1HY7 pdb_description: 18-Jan-02 X-ray 1.500 A carboxylic acid based inhibitor in complex with mmp3 437 1HFS pdb_description: 18-Feb-98 X-ray 1.700 Crystal structure of the catalytic domain of human fibroblas stromelysin-1 inhibited with the n-carboxy-alkyl inhibitor 437 1G4K pdb_description: 25-Apr-01 X-ray 2.000 X-ray structure of a novel matrix metalloproteinase inhibito complexed to stromelysin 437 1G49 pdb_description: 24-Oct-01 X-ray 1.900 A carboxylic acid based inhibitor in complex with mmp3 437 1G05 pdb_description: 05-Oct-01 X-ray 2.450 Heterocycle-based mmp inhibitor with p2'substituents 437 1D8M pdb_description: 25-Oct-00 X-ray 2.440 Crystal structure of mmp3 complexed with a heterocycle- based inhibitor 437 1D8F pdb_description: 23-Oct-00 X-ray 2.400 Crystal structure of mmp3 complexed with a piperazine based inhibitor. 437 1D7X pdb_description: 23-Oct-00 X-ray 2.000 Crystal structure of mmp3 complexed with a modified proline scaffold based inhibitor. 437 1D5J pdb_description: 09-Oct-00 X-ray 2.600 Crystal structure of mmp3 complexed with a thiazepine based inhibitor. 437 1CQR pdb_description: 20-Mar-00 X-ray 2.000 Crystal structure of the stromelysin catalytic domain at 2.0 resolution 437 1CIZ pdb_description: 01-Sep-99 X-ray 1.640 X-ray structure of human stromelysin catalytic domain comple non-peptide inhibitors: implication for inhibitor selectivi 437 1CAQ pdb_description: 07-Jul-99 X-ray 1.800 X-ray structure of human stromelysin catalytic domain comple non-peptide inhibitors: implication for inhibitor selectivi 437 1C8T pdb_description: 19-Jul-00 X-ray 2.600 Human stromelysin-1 (e202q) catalytic domain complexed with ro-26-2812 437 1C3I pdb_description: 26-Jul-00 X-ray 1.830 Human stromelysin-1 catalytic domain complexed with ro-26-28 437 1BQO pdb_description: 17-Aug-99 X-ray 2.300 Discovery of potent, achiral matrix metalloproteinase inhibi 437 1BM6 pdb_description: 29-Jul-99 NMR 20 Solution structure of the catalytic domain of human stromelysin-1 complexed to a potent non-peptidic inhibitor, nmr, 20 structures 437 1BIW pdb_description: 16-Jul-99 X-ray 2.500 Design and synthesis of conformationally-constrained mmp inhibitors 437 1B8Y pdb_description: 31-Aug-99 X-ray 2.000 X-ray structure of human stromelysin catalytic domain comple non-peptide inhibitors: implications for inhibitor selectiv 437 1B3D pdb_description: 10-Dec-99 X-ray 2.300 Stromelysin-1 437 Zimmer Variants: 437 chr11:102713620:T:C 1434_133_45_K->E 437 HGMD Variants: 437 chr11:102713620:T:C 1434_133_45_K->E 437 oneKG Variants: 437 chr11:102710864:C:A 1434_910_304_G->* 0.000199681 437 chr11:102713627:G:T 1434_126_42_Y->*,1 0.000399361 437 chr11:102706888:G:C 1434_1403_468_T->S 0.000199681 437 chr11:102706936:C:A 1434_1355_452_G->V 0.000199681 437 chr11:102709339:G:A 1434_1172_391_A->V 0.000199681 437 chr11:102709358:C:T 1434_1153_385_V->M 0.000798722 437 chr11:102709856:C:T 1434_1054_352_V->I 0.000199681 437 chr11:102709866:G:T 1434_1044_348_S->R 0.000199681 437 chr11:102709879:T:C 1434_1031_344_Y->C 0.000199681 437 chr11:102709892:C:T 1434_1018_340_V->M 0.000199681 437 chr11:102709897:G:A 1434_1013_338_S->L 0.000199681 437 chr11:102709964:G:A 1434_946_316_R->C 0.000199681 437 chr11:102710944:G:A 1434_830_277_T->M 0.000399361 437 chr11:102711201:C:T 1434_749_250_R->H 0.000399361 437 chr11:102711208:G:A 1434_742_248_R->W 0.000599042 437 chr11:102711234:A:G 1434_716_239_L->P 0.000199681 437 chr11:102711296:A:C 1434_654_218_H->Q 0.000199681 437 chr11:102712951:G:A 1434_559_187_P->S 0.000998403 437 chr11:102713181:C:A 1434_480_160_M->I 0.000199681 437 chr11:102713183:T:A,C 1434_478_160_M->L,2 0.00179712 437 chr11:102713183:T:A,C 1434_478_160_M->V 0.00179712 437 chr11:102713308:A:G 1434_353_118_I->T 0.000199681 437 chr11:102713406:T:C 1434_347_116_Y->C 0.000399361 437 chr11:102713412:A:C 1434_341_114_L->R 0.000199681 437 chr11:102713464:C:T 1434_289_97_V->I 0.000399361 437 chr11:102713509:C:T 1434_244_82_D->N 0.000199681 437 chr11:102713523:C:A 1434_230_77_G->V 0.000199681 437 chr11:102713526:G:A 1434_227_76_T->M 0.000199681 437 chr11:102713559:C:T 1434_194_65_R->Q 0.000199681 437 chr11:102713572:C:A 1434_181_61_V->F 0.000199681 437 chr11:102713620:T:C 1434_133_45_K->E 0.347843 437 chr11:102713644:A:G 1434_109_37_Y->H 0.000199681 437 chr11:102714193:T:C 1434_85_29_T->A 0.000599042 437 chr11:102714240:G:A 1434_38_13_A->V 0.000199681 437 chr11:102714244:C:T 1434_34_12_V->M 0.000199681 437 chr11:102714245:G:C 1434_33_11_C->W 0.000399361 437 na12878 Variants: 437 chr11:102713620:T:C 1434_133_45_K->E 437 snyder Variants: 437 chr11:102713620:T:C 1434_133_45_K->E 438 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000064309_ENST00000392693 gene_Name: CDON_HUMAN 438 list of pdbs: 438 3N1Q pdb_description: 02-Jun-10 X-ray 2.890 Crystal structure of dhhn bound to cdofn3 438 3N1F pdb_description: 02-Jun-10 X-ray 1.600 Crystal structure of ihhn bound to cdofn3 438 3D1M pdb_description: 23-Sep-08 X-ray 1.700 Crystal structure of sonic hedgehog bound to the third fniii cdo 438 Zimmer Variants: 438 chr11:125830970:A:T 3864_3731_1244_I->N 438 chr11:125891269:C:T 3864_223_75_V->I;GENE=CDON;CDSS=1;DBRECUR=CDON 438 HGMD Variants: 438 chr11:125853944:T:G 3864_2818_940_S->R 438 chr11:125864942:T:C 3864_2368_790_T->A 438 chr11:125867125:A:T 3864_2339_780_V->E 438 chr11:125871701:C:T 3864_2071_691_V->M 438 chr11:125871707:G:C 3864_2065_689_P->A 438 chr11:125871721:G:C 3864_2051_684_T->S 438 oneKG Variants: 438 chr11:125830848:G:A 3864_3853_1285_R->W 0.000399361 438 chr11:125830871:G:A 3864_3830_1277_P->L 0.000399361 438 chr11:125831610:C:T 3864_3640_1214_G->S 0.000199681 438 chr11:125831648:C:T 3864_3602_1201_G->D 0.000199681 438 chr11:125831676:C:T 3864_3574_1192_D->N 0.000998403 438 chr11:125831691:G:A 3864_3559_1187_R->C 0.0071885 438 chr11:125831699:G:A 3864_3551_1184_P->L 0.000199681 438 chr11:125831724:C:T 3864_3526_1176_V->I 0.0271565 438 chr11:125831813:C:T 3864_3437_1146_G->D 0.000199681 438 chr11:125831871:T:C 3864_3379_1127_T->A 0.000199681 438 chr11:125831888:A:G 3864_3362_1121_F->S 0.000199681 438 chr11:125848223:C:T 3864_3332_1111_C->Y 0.000399361 438 chr11:125848241:G:A 3864_3314_1105_P->L 0.000199681 438 chr11:125848269:T:C 3864_3286_1096_M->V 0.000199681 438 chr11:125850978:T:C 3864_3242_1081_H->R 0.000199681 438 chr11:125851029:C:T 3864_3191_1064_S->N 0.00139776 438 chr11:125851030:T:C 3864_3190_1064_S->G 0.000599042 438 chr11:125851056:T:C 3864_3164_1055_N->S 0.000798722 438 chr11:125851120:C:G 3864_3100_1034_G->R 0.000399361 438 chr11:125853839:C:T 3864_2923_975_V->I 0.00399361 438 chr11:125859568:T:C 3864_2737_913_S->G 0.000199681 438 chr11:125864206:T:C 3864_2623_875_S->G 0.0195687 438 chr11:125864848:C:T 3864_2462_821_R->H 0.00119808 438 chr11:125864858:A:G 3864_2452_818_F->L 0.000199681 438 chr11:125864868:T:G 3864_2442_814_Q->H 0.000199681 438 chr11:125864878:C:T 3864_2432_811_R->H 0.000798722 438 chr11:125864879:G:A 3864_2431_811_R->C 0.000199681 438 chr11:125864918:T:C 3864_2392_798_I->V 0.00519169 438 chr11:125867121:T:G 3864_2343_781_E->D 0.000199681 438 chr11:125867134:T:G 3864_2330_777_K->T 0.000199681 438 chr11:125867143:G:A 3864_2321_774_P->L 0.000199681 438 chr11:125867158:G:A 3864_2306_769_A->V 0.000798722 438 chr11:125867185:C:T 3864_2279_760_R->Q 0.00199681 438 chr11:125867186:G:A 3864_2278_760_R->W 0.000199681 438 chr11:125867251:T:C 3864_2213_738_Y->C 0.000199681 438 chr11:125871658:T:C 3864_2114_705_N->S 0.000199681 438 chr11:125871695:T:C 3864_2077_693_I->V 0.000199681 438 chr11:125871715:G:A 3864_2057_686_A->V 0.111222 438 chr11:125871716:C:T 3864_2056_686_A->T 0.000199681 438 chr11:125871721:G:C 3864_2051_684_T->S 0.00179712 438 chr11:125871736:G:T 3864_2036_679_A->E 0.000199681 438 chr11:125873877:C:T 3864_1946_649_S->N 0.000199681 438 chr11:125873934:G:A 3864_1889_630_T->M 0.000199681 438 chr11:125875697:T:A 3864_1808_603_D->V 0.000199681 438 chr11:125875823:C:G 3864_1682_561_S->T 0.000199681 438 chr11:125875839:C:G 3864_1666_556_V->L 0.000199681 438 chr11:125875894:A:T 3864_1611_537_N->K 0.000199681 438 chr11:125875902:C:T 3864_1603_535_A->T 0.0239617 438 chr11:125880401:A:G 3864_1387_463_S->P 0.000199681 438 chr11:125880424:G:A 3864_1364_455_S->L 0.000199681 438 chr11:125880478:C:T 3864_1310_437_R->H 0.00139776 438 chr11:125880505:G:A 3864_1283_428_A->V 0.000199681 438 chr11:125880542:C:G 3864_1246_416_V->L 0.000199681 438 chr11:125885146:T:G 3864_1188_396_E->D 0.000199681 438 chr11:125885167:C:T 3864_1167_389_M->I 0.000199681 438 chr11:125885262:G:A 3864_1072_358_H->Y 0.000199681 438 chr11:125885283:G:C 3864_1051_351_P->A 0.014976 438 chr11:125885334:C:T 3864_1000_334_D->N 0.000199681 438 chr11:125885339:G:A 3864_995_332_T->I 0.000199681 438 chr11:125887073:C:T 3864_838_280_V->I 0.000199681 438 chr11:125887102:C:A 3864_809_270_R->M 0.000199681 438 chr11:125887165:G:A 3864_746_249_P->L 0.000399361 438 chr11:125887267:G:C 3864_644_215_P->R 0.000199681 438 chr11:125889526:C:T 3864_484_162_E->K 0.112021 438 chr11:125889645:C:A 3864_365_122_G->V 0.000199681 438 chr11:125891253:C:A 3864_239_80_G->V 0.000199681 438 chr11:125891269:C:T 3864_223_75_V->I 0.427716 438 chr11:125891295:T:C 3864_197_66_K->R 0.0245607 438 chr11:125893352:G:A 3864_20_7_P->L 0.000199681 438 na12878 Variants: 438 chr11:125830970:A:T 3864_3731_1244_I->N 438 snyder Variants: 438 chr11:125830970:A:T 3864_3731_1244_I->N 439 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000064309_ENST00000263577 gene_Name: CDON_HUMAN 439 list of pdbs: 439 3N1Q pdb_description: 02-Jun-10 X-ray 2.890 Crystal structure of dhhn bound to cdofn3 439 3N1F pdb_description: 02-Jun-10 X-ray 1.600 Crystal structure of ihhn bound to cdofn3 439 3D1M pdb_description: 23-Sep-08 X-ray 1.700 Crystal structure of sonic hedgehog bound to the third fniii cdo 439 Zimmer Variants: 439 chr11:125830970:A:T 3795_3662_1221_I->N 439 chr11:125891269:C:T 3795_223_75_V->I 439 HGMD Variants: 439 chr11:125853944:T:G 3795_2818_940_S->R 439 chr11:125864942:T:C 3795_2368_790_T->A 439 chr11:125867125:A:T 3795_2339_780_V->E 439 chr11:125871701:C:T 3795_2071_691_V->M 439 chr11:125871707:G:C 3795_2065_689_P->A 439 chr11:125871721:G:C 3795_2051_684_T->S 439 oneKG Variants: 439 chr11:125830848:G:A 3795_3784_1262_R->W 0.000399361 439 chr11:125830871:G:A 3795_3761_1254_P->L 0.000399361 439 chr11:125831648:C:T 3795_3602_1201_G->D 0.000199681 439 chr11:125831676:C:T 3795_3574_1192_D->N 0.000998403 439 chr11:125831691:G:A 3795_3559_1187_R->C 0.0071885 439 chr11:125831699:G:A 3795_3551_1184_P->L 0.000199681 439 chr11:125831724:C:T 3795_3526_1176_V->I 0.0271565 439 chr11:125831813:C:T 3795_3437_1146_G->D 0.000199681 439 chr11:125831871:T:C 3795_3379_1127_T->A 0.000199681 439 chr11:125831888:A:G 3795_3362_1121_F->S 0.000199681 439 chr11:125848223:C:T 3795_3332_1111_C->Y 0.000399361 439 chr11:125848241:G:A 3795_3314_1105_P->L 0.000199681 439 chr11:125848269:T:C 3795_3286_1096_M->V 0.000199681 439 chr11:125850978:T:C 3795_3242_1081_H->R 0.000199681 439 chr11:125851029:C:T 3795_3191_1064_S->N 0.00139776 439 chr11:125851030:T:C 3795_3190_1064_S->G 0.000599042 439 chr11:125851056:T:C 3795_3164_1055_N->S 0.000798722 439 chr11:125851120:C:G 3795_3100_1034_G->R 0.000399361 439 chr11:125853839:C:T 3795_2923_975_V->I 0.00399361 439 chr11:125859568:T:C 3795_2737_913_S->G 0.000199681 439 chr11:125864206:T:C 3795_2623_875_S->G 0.0195687 439 chr11:125864848:C:T 3795_2462_821_R->H 0.00119808 439 chr11:125864858:A:G 3795_2452_818_F->L 0.000199681 439 chr11:125864868:T:G 3795_2442_814_Q->H 0.000199681 439 chr11:125864878:C:T 3795_2432_811_R->H 0.000798722 439 chr11:125864879:G:A 3795_2431_811_R->C 0.000199681 439 chr11:125864918:T:C 3795_2392_798_I->V 0.00519169 439 chr11:125867121:T:G 3795_2343_781_E->D 0.000199681 439 chr11:125867134:T:G 3795_2330_777_K->T 0.000199681 439 chr11:125867143:G:A 3795_2321_774_P->L 0.000199681 439 chr11:125867158:G:A 3795_2306_769_A->V 0.000798722 439 chr11:125867185:C:T 3795_2279_760_R->Q 0.00199681 439 chr11:125867186:G:A 3795_2278_760_R->W 0.000199681 439 chr11:125867251:T:C 3795_2213_738_Y->C 0.000199681 439 chr11:125871658:T:C 3795_2114_705_N->S 0.000199681 439 chr11:125871695:T:C 3795_2077_693_I->V 0.000199681 439 chr11:125871715:G:A 3795_2057_686_A->V 0.111222 439 chr11:125871716:C:T 3795_2056_686_A->T 0.000199681 439 chr11:125871721:G:C 3795_2051_684_T->S 0.00179712 439 chr11:125871736:G:T 3795_2036_679_A->E 0.000199681 439 chr11:125873877:C:T 3795_1946_649_S->N 0.000199681 439 chr11:125873934:G:A 3795_1889_630_T->M 0.000199681 439 chr11:125875697:T:A 3795_1808_603_D->V 0.000199681 439 chr11:125875823:C:G 3795_1682_561_S->T 0.000199681 439 chr11:125875839:C:G 3795_1666_556_V->L 0.000199681 439 chr11:125875894:A:T 3795_1611_537_N->K 0.000199681 439 chr11:125875902:C:T 3795_1603_535_A->T 0.0239617 439 chr11:125880401:A:G 3795_1387_463_S->P 0.000199681 439 chr11:125880424:G:A 3795_1364_455_S->L 0.000199681 439 chr11:125880478:C:T 3795_1310_437_R->H 0.00139776 439 chr11:125880505:G:A 3795_1283_428_A->V 0.000199681 439 chr11:125880542:C:G 3795_1246_416_V->L 0.000199681 439 chr11:125885146:T:G 3795_1188_396_E->D 0.000199681 439 chr11:125885167:C:T 3795_1167_389_M->I 0.000199681 439 chr11:125885262:G:A 3795_1072_358_H->Y 0.000199681 439 chr11:125885283:G:C 3795_1051_351_P->A 0.014976 439 chr11:125885334:C:T 3795_1000_334_D->N 0.000199681 439 chr11:125885339:G:A 3795_995_332_T->I 0.000199681 439 chr11:125887073:C:T 3795_838_280_V->I 0.000199681 439 chr11:125887102:C:A 3795_809_270_R->M 0.000199681 439 chr11:125887165:G:A 3795_746_249_P->L 0.000399361 439 chr11:125887267:G:C 3795_644_215_P->R 0.000199681 439 chr11:125889526:C:T 3795_484_162_E->K 0.112021 439 chr11:125889645:C:A 3795_365_122_G->V 0.000199681 439 chr11:125891253:C:A 3795_239_80_G->V 0.000199681 439 chr11:125891269:C:T 3795_223_75_V->I 0.427716 439 chr11:125891295:T:C 3795_197_66_K->R 0.0245607 439 chr11:125893352:G:A 3795_20_7_P->L 0.000199681 439 na12878 Variants: 439 chr11:125830970:A:T 3795_3662_1221_I->N 439 snyder Variants: 439 chr11:125830970:A:T 3795_3662_1221_I->N 440 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132740_ENST00000255078 gene_Name: SMBP2_HUMAN 440 list of pdbs: 440 4B3G pdb_description: 26-Sep-12 X-ray 2.850 Crystal structure of ighmbp2 helicase in complex with RNA 440 4B3F pdb_description: 26-Sep-12 X-ray 2.500 Crystal structure of 1ghmbp2 helicase 440 2LRR pdb_description: 24-Oct-12 NMR 20 Solution structure of the r3h domain from human smubp-2 in c with 2'-deoxyguanosine-5'-monophosphate 440 1MSZ pdb_description: 09-Oct-02 NMR 20 Solution structure of the r3h domain from human smubp-2 440 Zimmer Variants: 440 chr11:68704028:C:T 2982_2080_694_R->W;GENE=IGHMBP2;CANG=[DNA_repair];CDSS=2 440 chr11:68682402:A:G 2982_823_275_I->V;GENE=IGHMBP2;CANG=[DNA_repair];CDSS=1 440 chr11:68703959:A:G 2982_2011_671_T->A;GENE=IGHMBP2;CANG=[DNA_repair];CDSS=1 440 HGMD Variants: 440 chr11:68673544:C:T 2982_94_32_Q->* 440 chr11:68673571:C:T 2982_121_41_Q->* 440 chr11:68673577:C:T 2982_127_43_R->* 440 chr11:68673588:T:A 2982_138_46_C->* 440 chr11:68673613:C:T 2982_163_55_Q->* 440 chr11:68675744:C:T 2982_388_130_R->* 440 chr11:68675795:C:T 2982_439_147_R->* 440 chr11:68678976:C:T 2982_616_206_Q->* 440 chr11:68679036:G:T 2982_676_226_E->*,1 440 chr11:68679067:T:G 2982_707_236_L->* 440 chr11:68682483:C:T 2982_904_302_Q->* 440 chr11:68685249:C:T 2982_958_320_R->* 440 chr11:68700867:C:T 2982_1336_446_Q->* 440 chr11:68701332:C:A 2982_1488_496_C->* 440 chr11:68701363:C:T 2982_1519_507_Q->* 440 chr11:68702842:C:T 2982_1708_570_R->* 440 chr11:68703761:C:T 2982_1813_605_R->* 440 chr11:68703917:C:T 2982_1969_657_Q->* 440 chr11:68704031:A:T 2982_2083_695_K->* 440 chr11:68704310:C:T 2982_2362_788_R->* 440 chr11:68704316:C:T 2982_2368_790_R->* 440 chr11:68671470:T:C 2982_50_17_L->P 440 chr11:68673688:A:G 2982_238_80_S->G 440 chr11:68676016:T:A 2982_464_155_L->Q 440 chr11:68678935:T:C 2982_575_192_L->P,1 440 chr11:68678947:A:G 2982_587_196_Q->R,1 440 chr11:68678955:G:C 2982_595_199_A->P 440 chr11:68678964:T:G 2982_604_202_F->V 440 chr11:68678998:A:G 2982_638_213_H->R,1 440 chr11:68679007:C:T 2982_647_216_P->L,1 440 chr11:68679021:A:G 2982_661_221_T->A 440 chr11:68682300:T:C 2982_721_241_C->R 440 chr11:68682313:A:G 2982_734_245_N->S 440 chr11:68682331:T:C 2982_752_251_L->P 440 chr11:68685291:G:A 2982_1000_334_E->K 440 chr11:68685351:G:A 2982_1060_354_G->S 440 chr11:68696672:T:C 2982_1082_361_L->P 440 chr11:68696681:T:C 2982_1091_364_L->P 440 chr11:68696697:C:G 2982_1107_369_F->L 440 chr11:68696708:T:G 2982_1118_373_V->G 440 chr11:68696734:G:A 2982_1144_382_E->K 440 chr11:68696746:T:C 2982_1156_386_W->R 440 chr11:68696773:T:C 2982_1183_395_C->R 440 chr11:68700794:C:A 2982_1263_421_S->R 440 chr11:68700804:C:T 2982_1273_425_R->C 440 chr11:68700808:T:C 2982_1277_426_L->P 440 chr11:68700865:A:C 2982_1334_445_H->P 440 chr11:68700946:T:C 2982_1415_472_L->P 440 chr11:68701322:C:T 2982_1478_493_T->I 440 chr11:68701934:G:A 2982_1540_514_E->K 440 chr11:68701976:G:A 2982_1582_528_A->T 440 chr11:68701985:C:A 2982_1591_531_P->T 440 chr11:68702004:T:A 2982_1610_537_V->E 440 chr11:68702816:T:C 2982_1682_561_I->T 440 chr11:68702827:G:A 2982_1693_565_D->N 440 chr11:68702864:T:C 2982_1730_577_L->P 440 chr11:68702872:G:A 2982_1738_580_V->I 440 chr11:68702877:A:C 2982_1743_581_R->S 440 chr11:68702882:A:T 2982_1748_583_N->I 440 chr11:68702890:G:T 2982_1756_586_G->C 440 chr11:68703742:C:A 2982_1794_598_N->K 440 chr11:68703755:C:T 2982_1807_603_R->C 440 chr11:68703756:G:A 2982_1808_603_R->H 440 chr11:68703765:G:A 2982_1817_606_R->H 440 chr11:68703774:C:A 2982_1826_609_A->E 440 chr11:68703857:C:T 2982_1909_637_R->C 440 chr11:68705674:C:A 2982_2636_879_T->K 440 chr11:68705808:C:T 2982_2770_924_H->Y 440 chr11:68707139:T:G 2982_2922_974_D->E 440 oneKG Variants: 440 chr11:68678946:C:T 2982_586_196_Q->* 0.000199681 440 chr11:68701332:C:A 2982_1488_496_C->* 0.000199681 440 chr11:68671494:T:G 2982_74_25_V->G 0.00239617 440 chr11:68673593:T:A 2982_143_48_L->Q 0.000399361 440 chr11:68673601:C:G 2982_151_51_Q->E 0.00399361 440 chr11:68673658:A:G 2982_208_70_R->G 0.000599042 440 chr11:68673673:G:A 2982_223_75_A->T 0.00638978 440 chr11:68673701:C:T 2982_251_84_T->I 0.000199681 440 chr11:68675633:G:A 2982_277_93_D->N 0.000199681 440 chr11:68675660:G:T 2982_304_102_A->S 0.00179712 440 chr11:68675700:C:T 2982_344_115_T->M 0.00239617 440 chr11:68675702:G:A 2982_346_116_V->M 0.000199681 440 chr11:68675718:C:T 2982_362_121_S->F 0.00159744 440 chr11:68675763:T:A 2982_407_136_L->Q 0.000199681 440 chr11:68676003:G:A 2982_451_151_A->T 0.000399361 440 chr11:68676099:C:T 2982_547_183_H->Y 0.000199681 440 chr11:68678962:T:C 2982_602_201_L->S,1 0.319489 440 chr11:68682321:G:A 2982_742_248_V->M 0.000199681 440 chr11:68682324:G:C 2982_745_249_D->H 0.000199681 440 chr11:68682346:C:G 2982_767_256_A->G 0.000998403 440 chr11:68682369:C:T 2982_790_264_R->C 0.000798722 440 chr11:68682387:C:T 2982_808_270_R->C 0.000399361 440 chr11:68682402:A:G 2982_823_275_I->V 0.119808 440 chr11:68682409:A:G 2982_830_277_Q->R 0.000599042 440 chr11:68682436:G:A 2982_857_286_R->Q 0.000399361 440 chr11:68682440:C:G 2982_861_287_S->R 0.000399361 440 chr11:68682460:C:G 2982_881_294_A->G 0.000199681 440 chr11:68682473:G:C 2982_894_298_K->N 0.000399361 440 chr11:68682480:G:A 2982_901_301_D->N 0.000199681 440 chr11:68685216:A:G 2982_925_309_K->E 0.000199681 440 chr11:68685228:A:G 2982_937_313_K->E 0.000199681 440 chr11:68685306:C:T 2982_1015_339_L->F 0.000199681 440 chr11:68685315:C:G 2982_1024_342_L->V 0.000399361 440 chr11:68685322:C:T 2982_1031_344_S->L 0.000199681 440 chr11:68685327:A:G 2982_1036_346_N->D 0.000199681 440 chr11:68696654:C:T 2982_1064_355_A->V 0.00139776 440 chr11:68696672:T:C 2982_1082_361_L->P 0.000199681 440 chr11:68696698:G:A 2982_1108_370_D->N 0.000199681 440 chr11:68696710:A:G 2982_1120_374_I->V 0.000399361 440 chr11:68696783:C:T 2982_1193_398_A->V 0.000599042 440 chr11:68696823:C:G 2982_1233_411_H->Q 0.000199681 440 chr11:68700825:G:A 2982_1294_432_A->T 0.00359425 440 chr11:68700837:C:T 2982_1306_436_R->W 0.000399361 440 chr11:68700865:A:C 2982_1334_445_H->P 0.000399361 440 chr11:68701265:A:G 2982_1421_474_D->G 0.000199681 440 chr11:68701266:C:A 2982_1422_474_D->E 0.000199681 440 chr11:68701327:G:A 2982_1483_495_G->S 0.000199681 440 chr11:68701360:G:A 2982_1516_506_E->K 0.000199681 440 chr11:68701997:A:G 2982_1603_535_I->V 0.000998403 440 chr11:68702803:C:G 2982_1669_557_P->A 0.00139776 440 chr11:68703743:G:A 2982_1795_599_V->M 0.000199681 440 chr11:68703770:G:A 2982_1822_608_V->M 0.000199681 440 chr11:68703792:G:A 2982_1844_615_R->H 0.000199681 440 chr11:68703802:C:A 2982_1854_618_N->K 0.000199681 440 chr11:68703857:C:T 2982_1909_637_R->C 0.000199681 440 chr11:68703858:G:A 2982_1910_637_R->H 0.000199681 440 chr11:68703887:G:A 2982_1939_647_V->I 0.00399361 440 chr11:68703959:A:G 2982_2011_671_T->A 0.246206 440 chr11:68703974:G:A 2982_2026_676_G->R 0.000399361 440 chr11:68704028:C:T 2982_2080_694_R->W 0.132987 440 chr11:68704038:C:T 2982_2090_697_P->L 0.000199681 440 chr11:68704124:G:A 2982_2176_726_V->M 0.000199681 440 chr11:68704131:A:T 2982_2183_728_H->L 0.000199681 440 chr11:68704307:C:T 2982_2359_787_P->S 0.000399361 440 chr11:68704308:C:T 2982_2360_787_P->L 0.000399361 440 chr11:68704317:G:A 2982_2369_790_R->Q 0.000199681 440 chr11:68704404:C:T 2982_2456_819_P->L 0.000199681 440 chr11:68704415:C:T 2982_2467_823_R->C 0.000599042 440 chr11:68704479:C:T 2982_2531_844_A->V 0.000199681 440 chr11:68704484:G:A 2982_2536_846_G->R 0.000199681 440 chr11:68704493:G:A 2982_2545_849_A->T 0.00139776 440 chr11:68704502:G:C 2982_2554_852_E->Q 0.000199681 440 chr11:68704521:A:G 2982_2573_858_Q->R 0.000199681 440 chr11:68705656:C:T 2982_2618_873_P->L 0.000199681 440 chr11:68705674:C:A 2982_2636_879_T->K 0.197085 440 chr11:68705709:G:A 2982_2671_891_V->I 0.000199681 440 chr11:68705731:G:A 2982_2693_898_G->D 0.000199681 440 chr11:68705791:G:A 2982_2753_918_R->H 0.000199681 440 chr11:68705820:G:A 2982_2782_928_E->K 0.0235623 440 chr11:68707053:C:T 2982_2836_946_R->W 0.00199681 440 chr11:68707069:A:C 2982_2852_951_Y->S 0.000199681 440 chr11:68707086:A:G 2982_2869_957_K->E 0.000199681 440 chr11:68707087:A:G 2982_2870_957_K->R 0.000399361 440 chr11:68707139:T:G 2982_2922_974_D->E 0.000399361 440 chr11:68707177:G:A 2982_2960_987_R->Q 0.000199681 440 na12878 Variants: 440 chr11:68704028:C:T 2982_2080_694_R->W 440 chr11:68682402:A:G 2982_823_275_I->V 440 chr11:68705674:C:A 2982_2636_879_T->K 440 snyder Variants: 440 chr11:68704028:C:T 2982_2080_694_R->W 440 chr11:68682402:A:G 2982_823_275_I->V 440 chr11:68705674:C:A 2982_2636_879_T->K 441 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000213809_ENST00000240618 gene_Name: NKG2D_HUMAN 441 list of pdbs: 441 1MPU pdb_description: 15-Apr-03 X-ray 2.500 Crystal structure of the free human nkg2d immunoreceptor 441 1KCG pdb_description: 09-Jan-02 X-ray 2.600 Nkg2d in complex with ulbp3 441 1HYR pdb_description: 23-May-01 X-ray 2.700 Crystal structure of human mica in complex with natural killer cell receptor nkg2d 441 Zimmer Variants: 441 chr12:10532326:T:C 651_214_72_T->A 441 HGMD Variants: 441 chr12:10532326:T:C 651_214_72_T->A 441 oneKG Variants: 441 chr12:10539549:C:T 651_101_34_W->* 0.000399361 441 chr12:10525718:C:T 651_646_216_V->M 0.000199681 441 chr12:10530734:T:C 651_530_177_N->S 0.00119808 441 chr12:10530749:G:A 651_515_172_S->F 0.000199681 441 chr12:10531196:G:C 651_386_129_S->C 0.000199681 441 chr12:10531209:C:A 651_373_125_A->S 0.00119808 441 chr12:10532048:G:A 651_275_92_T->I 0.000199681 441 chr12:10532051:A:G 651_272_91_L->S 0.000199681 441 chr12:10532326:T:C 651_214_72_T->A 0.23762 441 chr12:10532344:G:A 651_196_66_R->C 0.000998403 441 chr12:10532362:C:T 651_178_60_A->T 0.000199681 441 chr12:10532380:A:C 651_160_54_F->V 0.000199681 441 chr12:10539540:T:C 651_110_37_Q->R 0.000199681 441 chr12:10539606:A:G 651_44_15_M->T 0.000199681 441 chr12:10541397:G:A 651_13_5_R->C 0.000399361 441 na12878 Variants: 441 chr12:10532326:T:C 651_214_72_T->A 441 snyder Variants: 441 chr12:10532326:T:C 651_214_72_T->A 442 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000213809_ENST00000540818 gene_Name: NKG2D_HUMAN 442 list of pdbs: 442 1MPU pdb_description: 15-Apr-03 X-ray 2.500 Crystal structure of the free human nkg2d immunoreceptor 442 1KCG pdb_description: 09-Jan-02 X-ray 2.600 Nkg2d in complex with ulbp3 442 1HYR pdb_description: 23-May-01 X-ray 2.700 Crystal structure of human mica in complex with natural killer cell receptor nkg2d 442 Zimmer Variants: 442 chr12:10532326:T:C 651_214_72_T->A 442 HGMD Variants: 442 chr12:10532326:T:C 651_214_72_T->A 442 oneKG Variants: 442 chr12:10539549:C:T 651_101_34_W->* 0.000399361 442 chr12:10525718:C:T 651_646_216_V->M 0.000199681 442 chr12:10530734:T:C 651_530_177_N->S 0.00119808 442 chr12:10530749:G:A 651_515_172_S->F 0.000199681 442 chr12:10531196:G:C 651_386_129_S->C 0.000199681 442 chr12:10531209:C:A 651_373_125_A->S 0.00119808 442 chr12:10532048:G:A 651_275_92_T->I 0.000199681 442 chr12:10532051:A:G 651_272_91_L->S 0.000199681 442 chr12:10532326:T:C 651_214_72_T->A 0.23762 442 chr12:10532344:G:A 651_196_66_R->C 0.000998403 442 chr12:10532362:C:T 651_178_60_A->T 0.000199681 442 chr12:10532380:A:C 651_160_54_F->V 0.000199681 442 chr12:10539540:T:C 651_110_37_Q->R 0.000199681 442 chr12:10539606:A:G 651_44_15_M->T 0.000199681 442 chr12:10541397:G:A 651_13_5_R->C 0.000399361 442 na12878 Variants: 442 chr12:10532326:T:C 651_214_72_T->A 442 snyder Variants: 442 chr12:10532326:T:C 651_214_72_T->A 443 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134545_ENST00000359151 gene_Name: NKG2A_HUMAN 443 list of pdbs: 443 2YU7 pdb_description: 15-Apr-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 443 2RMX pdb_description: 02-Dec-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 443 3BDW pdb_description: 01-Jan-08 X-ray 2.500 Human cd94/nkg2a 443 3CII pdb_description: 13-May-08 X-ray 4.410 Structure of nkg2a/cd94 bound to hla-e 443 3CDG pdb_description: 22-Apr-08 X-ray 3.400 Human cd94/nkg2a in complex with hla-e 443 Zimmer Variants: 443 chr12:10603670:T:C 702_86_29_N->S 443 HGMD Variants: 443 chr12:10603128:A:T 702_238_80_C->S 443 oneKG Variants: 443 chr12:10599160:T:C 702_692_231_H->R 0.00139776 443 chr12:10599177:T:C 702_675_225_I->M 0.000199681 443 chr12:10600137:T:C 702_584_195_K->R 0.000599042 443 chr12:10601847:C:T 702_478_160_E->K 0.000199681 443 chr12:10602534:G:C 702_316_106_L->V 0.000199681 443 chr12:10602566:G:C 702_284_95_S->C 0.000199681 443 chr12:10603092:C:G 702_274_92_V->L 0.000199681 443 chr12:10603106:A:G 702_260_87_V->A 0.000199681 443 chr12:10603145:C:T 702_221_74_G->E 0.000199681 443 chr12:10603634:G:A 702_122_41_A->V 0.000199681 443 chr12:10603670:T:C 702_86_29_N->S 0.012979 443 chr12:10603686:G:A 702_70_24_P->S 0.000199681 443 chr12:10603749:T:G 702_7_3_N->H 0.000399361 443 na12878 Variants: 443 chr12:10603670:T:C 702_86_29_N->S 443 snyder Variants: 443 chr12:10603670:T:C 702_86_29_N->S 444 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134545_ENST00000408006 gene_Name: NKG2A_HUMAN 444 list of pdbs: 444 2YU7 pdb_description: 15-Apr-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 444 2RMX pdb_description: 02-Dec-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 444 3BDW pdb_description: 01-Jan-08 X-ray 2.500 Human cd94/nkg2a 444 3CII pdb_description: 13-May-08 X-ray 4.410 Structure of nkg2a/cd94 bound to hla-e 444 3CDG pdb_description: 22-Apr-08 X-ray 3.400 Human cd94/nkg2a in complex with hla-e 444 Zimmer Variants: 444 chr12:10603670:T:C 648_86_29_N->S 444 HGMD Variants: 444 chr12:10603128:A:T 648_238_80_C->S 444 oneKG Variants: 444 chr12:10599160:T:C 648_638_213_H->R 0.00139776 444 chr12:10599177:T:C 648_621_207_I->M 0.000199681 444 chr12:10600137:T:C 648_530_177_K->R 0.000599042 444 chr12:10601847:C:T 648_424_142_E->K 0.000199681 444 chr12:10603092:C:G 648_274_92_V->L 0.000199681 444 chr12:10603106:A:G 648_260_87_V->A 0.000199681 444 chr12:10603145:C:T 648_221_74_G->E 0.000199681 444 chr12:10603634:G:A 648_122_41_A->V 0.000199681 444 chr12:10603670:T:C 648_86_29_N->S 0.012979 444 chr12:10603686:G:A 648_70_24_P->S 0.000199681 444 chr12:10603749:T:G 648_7_3_N->H 0.000399361 444 na12878 Variants: 444 chr12:10603670:T:C 648_86_29_N->S 444 snyder Variants: 444 chr12:10603670:T:C 648_86_29_N->S 445 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134545_ENST00000347831 gene_Name: NKG2A_HUMAN 445 list of pdbs: 445 2YU7 pdb_description: 15-Apr-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 445 2RMX pdb_description: 02-Dec-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 445 3BDW pdb_description: 01-Jan-08 X-ray 2.500 Human cd94/nkg2a 445 3CII pdb_description: 13-May-08 X-ray 4.410 Structure of nkg2a/cd94 bound to hla-e 445 3CDG pdb_description: 22-Apr-08 X-ray 3.400 Human cd94/nkg2a in complex with hla-e 445 Zimmer Variants: 445 chr12:10603670:T:C 648_86_29_N->S 445 HGMD Variants: 445 chr12:10603128:A:T 648_238_80_C->S 445 oneKG Variants: 445 chr12:10599160:T:C 648_638_213_H->R 0.00139776 445 chr12:10599177:T:C 648_621_207_I->M 0.000199681 445 chr12:10600137:T:C 648_530_177_K->R 0.000599042 445 chr12:10601847:C:T 648_424_142_E->K 0.000199681 445 chr12:10603092:C:G 648_274_92_V->L 0.000199681 445 chr12:10603106:A:G 648_260_87_V->A 0.000199681 445 chr12:10603145:C:T 648_221_74_G->E 0.000199681 445 chr12:10603634:G:A 648_122_41_A->V 0.000199681 445 chr12:10603670:T:C 648_86_29_N->S 0.012979 445 chr12:10603686:G:A 648_70_24_P->S 0.000199681 445 chr12:10603749:T:G 648_7_3_N->H 0.000399361 445 na12878 Variants: 445 chr12:10603670:T:C 648_86_29_N->S 445 snyder Variants: 445 chr12:10603670:T:C 648_86_29_N->S 446 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000134545_ENST00000544822 gene_Name: NKG2A_HUMAN 446 list of pdbs: 446 2YU7 pdb_description: 15-Apr-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 446 2RMX pdb_description: 02-Dec-08 NMR 20 Solution structure of the shp-1 c-terminal sh2 domain complexed with a tyrosine-phosphorylated peptide from nkg2a 446 3BDW pdb_description: 01-Jan-08 X-ray 2.500 Human cd94/nkg2a 446 3CII pdb_description: 13-May-08 X-ray 4.410 Structure of nkg2a/cd94 bound to hla-e 446 3CDG pdb_description: 22-Apr-08 X-ray 3.400 Human cd94/nkg2a in complex with hla-e 446 Zimmer Variants: 446 chr12:10603670:T:C 702_86_29_N->S 446 HGMD Variants: 446 chr12:10603128:A:T 702_238_80_C->S 446 oneKG Variants: 446 chr12:10599160:T:C 702_692_231_H->R 0.00139776 446 chr12:10599177:T:C 702_675_225_I->M 0.000199681 446 chr12:10600137:T:C 702_584_195_K->R 0.000599042 446 chr12:10601847:C:T 702_478_160_E->K 0.000199681 446 chr12:10602534:G:C 702_316_106_L->V 0.000199681 446 chr12:10602566:G:C 702_284_95_S->C 0.000199681 446 chr12:10603092:C:G 702_274_92_V->L 0.000199681 446 chr12:10603106:A:G 702_260_87_V->A 0.000199681 446 chr12:10603145:C:T 702_221_74_G->E 0.000199681 446 chr12:10603634:G:A 702_122_41_A->V 0.000199681 446 chr12:10603670:T:C 702_86_29_N->S 0.012979 446 chr12:10603686:G:A 702_70_24_P->S 0.000199681 446 chr12:10603749:T:G 702_7_3_N->H 0.000399361 446 na12878 Variants: 446 chr12:10603670:T:C 702_86_29_N->S 446 snyder Variants: 446 chr12:10603670:T:C 702_86_29_N->S 447 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000111249_ENST00000261726 gene_Name: CUX2_HUMAN 447 list of pdbs: 447 1X2L pdb_description: 26-Oct-05 NMR 20 Solution structure of the cut domain of human homeobox protein cux-2 (cut-like 2) 447 1WH8 pdb_description: 28-Nov-04 NMR 20 Solution structure of the third cut domain of human homeobox protein cux-2 447 1WH6 pdb_description: 28-Nov-04 NMR 20 Solution structure of the second cut domain of human homeobox protein cux-2 447 Zimmer Variants: 447 chr12:111786082:G:C 4461_4414_1472_V->L;GENE=CUX2;CDSS=2 447 HGMD Variants: 447 chr12:111748354:G:A 4461_1768_590_E->K 447 oneKG Variants: 447 chr12:111471994:G:A 4461_13_5_V->M 0.000199681 447 chr12:111472033:C:T 4461_52_18_R->W 0.000399361 447 chr12:111652019:G:T 4461_79_27_V->F 0.000199681 447 chr12:111652040:C:T 4461_100_34_R->W 0.000199681 447 chr12:111652085:C:T 4461_145_49_R->C 0.000599042 447 chr12:111701636:A:C 4461_294_98_E->D 0.000199681 447 chr12:111729299:C:G 4461_379_127_P->A 0.000199681 447 chr12:111729306:G:A 4461_386_129_R->Q 0.000199681 447 chr12:111729327:A:G 4461_407_136_K->R 0.000199681 447 chr12:111729338:G:A 4461_418_140_E->K 0.000199681 447 chr12:111729351:C:T 4461_431_144_P->L 0.000199681 447 chr12:111731276:G:A 4461_463_155_G->R 0.0179712 447 chr12:111731300:C:T 4461_487_163_R->C 0.00399361 447 chr12:111734326:C:G 4461_687_229_D->E 0.000199681 447 chr12:111742084:G:A 4461_824_275_R->H 0.000199681 447 chr12:111742111:C:T 4461_851_284_P->L 0.00119808 447 chr12:111744770:G:A 4461_904_302_A->T 0.000599042 447 chr12:111744821:C:A 4461_955_319_H->N 0.000399361 447 chr12:111744845:C:G 4461_979_327_L->V 0.000199681 447 chr12:111744872:G:A 4461_1006_336_A->T 0.000399361 447 chr12:111744875:G:A 4461_1009_337_D->N 0.000399361 447 chr12:111744894:C:T 4461_1028_343_T->M 0.000399361 447 chr12:111744896:G:A 4461_1030_344_A->T 0.000199681 447 chr12:111745029:G:C 4461_1077_359_Q->H 0.000199681 447 chr12:111747873:C:G 4461_1287_429_I->M 0.000399361 447 chr12:111747929:C:T 4461_1343_448_P->L 0.000199681 447 chr12:111747937:C:T 4461_1351_451_P->S 0.000199681 447 chr12:111748000:G:A 4461_1414_472_G->S 0.000199681 447 chr12:111748063:C:A 4461_1477_493_P->T 0.000399361 447 chr12:111748192:G:A 4461_1606_536_A->T 0.000199681 447 chr12:111748193:C:A 4461_1607_536_A->E 0.000199681 447 chr12:111748210:G:A 4461_1624_542_G->R 0.000199681 447 chr12:111748217:C:T 4461_1631_544_A->V 0.000399361 447 chr12:111749975:G:A 4461_1972_658_A->T 0.000199681 447 chr12:111757851:G:A 4461_2038_680_A->T 0.000399361 447 chr12:111758083:C:T 4461_2270_757_A->V 0.0133786 447 chr12:111758088:C:T 4461_2275_759_L->F 0.000199681 447 chr12:111758109:G:A 4461_2296_766_A->T 0.000199681 447 chr12:111758157:G:A 4461_2344_782_A->T 0.000599042 447 chr12:111758326:C:G 4461_2513_838_A->G 0.000199681 447 chr12:111758344:A:G 4461_2531_844_D->G 0.000199681 447 chr12:111758410:C:T 4461_2597_866_P->L 0.000399361 447 chr12:111758427:G:A 4461_2614_872_V->M 0.000399361 447 chr12:111758437:C:T 4461_2624_875_T->I 0.000199681 447 chr12:111772259:C:T 4461_2941_981_P->S 0.000199681 447 chr12:111776090:G:T 4461_3197_1066_G->V 0.000199681 447 chr12:111779748:C:T 4461_3550_1184_R->W 0.000199681 447 chr12:111785338:C:T 4461_3670_1224_R->C 0.000199681 447 chr12:111785363:C:T 4461_3695_1232_T->I 0.000199681 447 chr12:111785379:C:G 4461_3711_1237_D->E 0.000199681 447 chr12:111785401:G:C 4461_3733_1245_G->R 0.000399361 447 chr12:111785423:C:G 4461_3755_1252_S->C 0.000199681 447 chr12:111785441:C:T 4461_3773_1258_P->L 0.000399361 447 chr12:111785515:G:A 4461_3847_1283_E->K 0.0285543 447 chr12:111785597:A:G 4461_3929_1310_E->G 0.000199681 447 chr12:111785663:A:G 4461_3995_1332_H->R 0.000199681 447 chr12:111785665:C:T 4461_3997_1333_P->S 0.000199681 447 chr12:111785678:G:A 4461_4010_1337_G->D 0.000199681 447 chr12:111785764:G:A 4461_4096_1366_E->K 0.000199681 447 chr12:111785776:G:A 4461_4108_1370_G->R 0.000599042 447 chr12:111785801:T:C 4461_4133_1378_L->S 0.000199681 447 chr12:111785860:C:T 4461_4192_1398_P->S 0.000199681 447 chr12:111785915:C:A 4461_4247_1416_S->Y 0.000199681 447 chr12:111785966:C:T 4461_4298_1433_P->L 0.000199681 447 chr12:111786055:G:A 4461_4387_1463_A->T 0.000199681 447 chr12:111786082:G:C 4461_4414_1472_V->L 0.0 447 chr12:111786089:G:A 4461_4421_1474_R->Q 0.000199681 447 na12878 Variants: 447 chr12:111786082:G:C 4461_4414_1472_V->L 447 snyder Variants: 447 chr12:111786082:G:C 4461_4414_1472_V->L 448 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000130779_ENST00000302528 gene_Name: CLIP1_HUMAN 448 list of pdbs: 448 3RDV pdb_description: 29-Jun-11 X-ray 1.750 Structure of the slain2c-clipcg1 complex 448 3E2U pdb_description: 19-Aug-08 X-ray 2.600 Crystal structure of the zink-knuckle 2 domain of human clip complex with cap-gly domain of human dynactin-1 (p150-glued 448 2QK0 pdb_description: 02-Oct-07 X-ray 2.000 Structural basis of microtubule plus end tracking by xmap215, clip-170 and eb1 448 2HQH pdb_description: 21-Aug-07 X-ray 1.800 Crystal structure of p150glued and clip-170 448 2E4H pdb_description: 28-Aug-07 NMR 20 Solution structure of cytoskeletal protein in complex with tubulin tail 448 2E3I pdb_description: 28-Aug-07 X-ray 2.000 Crystal structure of the clip-170 cap-gly domain 1 448 2E3H pdb_description: 28-Aug-07 X-ray 1.450 Crystal structure of the clip-170 cap-gly domain 2 448 2CP6 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 2nd cap-gly domain in human clip- 170/restin 448 2CP5 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 1st cap-gly domain in human clip- 170/restin 448 Zimmer Variants: 448 chr12:122817580:A:G 4284_2788_930_S->P 448 chr12:122812503:G:C 4284_3207_1069_D->E 448 HGMD Variants: 448 chr12:122812682:G:A 4284_3028_1010_Q->* 448 oneKG Variants: 448 chr12:122757531:G:A 4284_4175_1392_P->L 0.000199681 448 chr12:122757621:T:C 4284_4085_1362_K->R 0.000199681 448 chr12:122758610:C:T 4284_4033_1345_G->R 0.000199681 448 chr12:122763670:C:A 4284_3637_1213_A->S 0.00359425 448 chr12:122803892:C:A 4284_3220_1074_A->S 0.000199681 448 chr12:122812503:G:C 4284_3207_1069_D->E 0.40655 448 chr12:122812660:C:T 4284_3050_1017_R->K 0.000199681 448 chr12:122812687:T:C 4284_3023_1008_H->R 0.000199681 448 chr12:122812693:G:T 4284_3017_1006_T->K 0.0974441 448 chr12:122812697:C:T 4284_3013_1005_E->K 0.0974441 448 chr12:122812699:A:C 4284_3011_1004_M->R 0.0425319 448 chr12:122812815:G:A 4284_2993_998_S->L 0.000199681 448 chr12:122812898:G:T 4284_2910_970_D->E 0.000199681 448 chr12:122817561:A:C 4284_2807_936_M->R 0.000199681 448 chr12:122817580:A:G 4284_2788_930_S->P 0.0313498 448 chr12:122817613:T:G 4284_2755_919_I->L 0.000199681 448 chr12:122817673:T:C 4284_2695_899_R->G 0.000199681 448 chr12:122817687:A:G 4284_2681_894_M->T 0.000599042 448 chr12:122821274:G:A 4284_2440_814_L->F 0.000199681 448 chr12:122825314:C:G 4284_2404_802_A->P 0.000199681 448 chr12:122825388:G:A 4284_2330_777_S->L 0.000399361 448 chr12:122825398:C:T 4284_2320_774_E->K 0.00658946 448 chr12:122825413:G:A 4284_2305_769_R->W 0.000798722 448 chr12:122825466:A:G 4284_2252_751_F->S 0.000399361 448 chr12:122825597:G:T 4284_2121_707_D->E 0.000199681 448 chr12:122825671:C:T 4284_2047_683_A->T 0.000798722 448 chr12:122825674:C:T 4284_2044_682_E->K 0.000399361 448 chr12:122825734:C:T 4284_1984_662_E->K 0.000199681 448 chr12:122825808:C:T 4284_1910_637_G->E 0.000199681 448 chr12:122825941:A:G 4284_1777_593_S->P 0.000199681 448 chr12:122825959:G:A 4284_1759_587_L->F 0.000199681 448 chr12:122826064:G:A 4284_1654_552_R->C 0.000199681 448 chr12:122826144:T:C 4284_1574_525_N->S 0.000199681 448 chr12:122826219:C:T 4284_1499_500_R->H 0.000199681 448 chr12:122826237:G:C 4284_1481_494_T->R 0.000199681 448 chr12:122837310:C:T 4284_1331_444_R->Q 0.000199681 448 chr12:122839835:C:T 4284_1030_344_A->T 0.000599042 448 chr12:122845529:T:C 4284_982_328_S->G 0.000199681 448 chr12:122845627:G:A 4284_884_295_A->V 0.000199681 448 chr12:122845667:C:T 4284_844_282_G->S 0.000199681 448 chr12:122845697:A:G 4284_814_272_F->L 0.000199681 448 chr12:122845698:C:A 4284_813_271_L->F 0.470847 448 chr12:122861989:C:G 4284_604_202_A->P 0.000599042 448 chr12:122862000:T:C 4284_593_198_N->S 0.000199681 448 chr12:122862048:G:A 4284_545_182_T->M 0.000399361 448 chr12:122862168:G:A 4284_425_142_A->V 0.000599042 448 chr12:122862183:A:C 4284_410_137_L->R 0.000199681 448 chr12:122862310:G:A 4284_283_95_P->S 0.000199681 448 chr12:122862331:C:T 4284_262_88_A->T 0.000199681 448 chr12:122864920:G:A 4284_80_27_T->M 0.00419329 448 chr12:122864993:T:C 4284_7_3_M->V 0.000798722 448 na12878 Variants: 448 chr12:122812503:G:C 4284_3207_1069_D->E 448 snyder Variants: 448 chr12:122864920:G:A 4284_80_27_T->M 448 chr12:122812503:G:C 4284_3207_1069_D->E 448 chr12:122864993:T:C 4284_7_3_M->V 449 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000130779_ENST00000358808 gene_Name: CLIP1_HUMAN 449 list of pdbs: 449 3RDV pdb_description: 29-Jun-11 X-ray 1.750 Structure of the slain2c-clipcg1 complex 449 3E2U pdb_description: 19-Aug-08 X-ray 2.600 Crystal structure of the zink-knuckle 2 domain of human clip complex with cap-gly domain of human dynactin-1 (p150-glued 449 2QK0 pdb_description: 02-Oct-07 X-ray 2.000 Structural basis of microtubule plus end tracking by xmap215, clip-170 and eb1 449 2HQH pdb_description: 21-Aug-07 X-ray 1.800 Crystal structure of p150glued and clip-170 449 2E4H pdb_description: 28-Aug-07 NMR 20 Solution structure of cytoskeletal protein in complex with tubulin tail 449 2E3I pdb_description: 28-Aug-07 X-ray 2.000 Crystal structure of the clip-170 cap-gly domain 1 449 2E3H pdb_description: 28-Aug-07 X-ray 1.450 Crystal structure of the clip-170 cap-gly domain 2 449 2CP6 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 2nd cap-gly domain in human clip- 170/restin 449 2CP5 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 1st cap-gly domain in human clip- 170/restin 449 Zimmer Variants: 449 chr12:122817580:A:G 4284_2788_930_S->P 449 chr12:122812503:G:C 4284_3207_1069_D->E 449 HGMD Variants: 449 chr12:122812682:G:A 4284_3028_1010_Q->* 449 oneKG Variants: 449 chr12:122757531:G:A 4284_4175_1392_P->L 0.000199681 449 chr12:122757621:T:C 4284_4085_1362_K->R 0.000199681 449 chr12:122758610:C:T 4284_4033_1345_G->R 0.000199681 449 chr12:122763670:C:A 4284_3637_1213_A->S 0.00359425 449 chr12:122803892:C:A 4284_3220_1074_A->S 0.000199681 449 chr12:122812503:G:C 4284_3207_1069_D->E 0.40655 449 chr12:122812660:C:T 4284_3050_1017_R->K 0.000199681 449 chr12:122812687:T:C 4284_3023_1008_H->R 0.000199681 449 chr12:122812693:G:T 4284_3017_1006_T->K 0.0974441 449 chr12:122812697:C:T 4284_3013_1005_E->K 0.0974441 449 chr12:122812699:A:C 4284_3011_1004_M->R 0.0425319 449 chr12:122812815:G:A 4284_2993_998_S->L 0.000199681 449 chr12:122812898:G:T 4284_2910_970_D->E 0.000199681 449 chr12:122817561:A:C 4284_2807_936_M->R 0.000199681 449 chr12:122817580:A:G 4284_2788_930_S->P 0.0313498 449 chr12:122817613:T:G 4284_2755_919_I->L 0.000199681 449 chr12:122817673:T:C 4284_2695_899_R->G 0.000199681 449 chr12:122817687:A:G 4284_2681_894_M->T 0.000599042 449 chr12:122821274:G:A 4284_2440_814_L->F 0.000199681 449 chr12:122825314:C:G 4284_2404_802_A->P 0.000199681 449 chr12:122825388:G:A 4284_2330_777_S->L 0.000399361 449 chr12:122825398:C:T 4284_2320_774_E->K 0.00658946 449 chr12:122825413:G:A 4284_2305_769_R->W 0.000798722 449 chr12:122825466:A:G 4284_2252_751_F->S 0.000399361 449 chr12:122825597:G:T 4284_2121_707_D->E 0.000199681 449 chr12:122825671:C:T 4284_2047_683_A->T 0.000798722 449 chr12:122825674:C:T 4284_2044_682_E->K 0.000399361 449 chr12:122825734:C:T 4284_1984_662_E->K 0.000199681 449 chr12:122825808:C:T 4284_1910_637_G->E 0.000199681 449 chr12:122825941:A:G 4284_1777_593_S->P 0.000199681 449 chr12:122825959:G:A 4284_1759_587_L->F 0.000199681 449 chr12:122826064:G:A 4284_1654_552_R->C 0.000199681 449 chr12:122826144:T:C 4284_1574_525_N->S 0.000199681 449 chr12:122826219:C:T 4284_1499_500_R->H 0.000199681 449 chr12:122826237:G:C 4284_1481_494_T->R 0.000199681 449 chr12:122837310:C:T 4284_1331_444_R->Q 0.000199681 449 chr12:122839835:C:T 4284_1030_344_A->T 0.000599042 449 chr12:122845529:T:C 4284_982_328_S->G 0.000199681 449 chr12:122845627:G:A 4284_884_295_A->V 0.000199681 449 chr12:122845667:C:T 4284_844_282_G->S 0.000199681 449 chr12:122845697:A:G 4284_814_272_F->L 0.000199681 449 chr12:122845698:C:A 4284_813_271_L->F 0.470847 449 chr12:122861989:C:G 4284_604_202_A->P 0.000599042 449 chr12:122862000:T:C 4284_593_198_N->S 0.000199681 449 chr12:122862048:G:A 4284_545_182_T->M 0.000399361 449 chr12:122862168:G:A 4284_425_142_A->V 0.000599042 449 chr12:122862183:A:C 4284_410_137_L->R 0.000199681 449 chr12:122862310:G:A 4284_283_95_P->S 0.000199681 449 chr12:122862331:C:T 4284_262_88_A->T 0.000199681 449 chr12:122864920:G:A 4284_80_27_T->M 0.00419329 449 chr12:122864993:T:C 4284_7_3_M->V 0.000798722 449 na12878 Variants: 449 chr12:122812503:G:C 4284_3207_1069_D->E 449 snyder Variants: 449 chr12:122864920:G:A 4284_80_27_T->M 449 chr12:122812503:G:C 4284_3207_1069_D->E 449 chr12:122864993:T:C 4284_7_3_M->V 450 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000130779_ENST00000537178 gene_Name: CLIP1_HUMAN 450 list of pdbs: 450 3RDV pdb_description: 29-Jun-11 X-ray 1.750 Structure of the slain2c-clipcg1 complex 450 3E2U pdb_description: 19-Aug-08 X-ray 2.600 Crystal structure of the zink-knuckle 2 domain of human clip complex with cap-gly domain of human dynactin-1 (p150-glued 450 2QK0 pdb_description: 02-Oct-07 X-ray 2.000 Structural basis of microtubule plus end tracking by xmap215, clip-170 and eb1 450 2HQH pdb_description: 21-Aug-07 X-ray 1.800 Crystal structure of p150glued and clip-170 450 2E4H pdb_description: 28-Aug-07 NMR 20 Solution structure of cytoskeletal protein in complex with tubulin tail 450 2E3I pdb_description: 28-Aug-07 X-ray 2.000 Crystal structure of the clip-170 cap-gly domain 1 450 2E3H pdb_description: 28-Aug-07 X-ray 1.450 Crystal structure of the clip-170 cap-gly domain 2 450 2CP6 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 2nd cap-gly domain in human clip- 170/restin 450 2CP5 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 1st cap-gly domain in human clip- 170/restin 450 Zimmer Variants: 450 chr12:122817580:A:G 4179_2683_895_S->P 450 chr12:122812503:G:C 4179_3102_1034_D->E 450 HGMD Variants: 450 chr12:122812682:G:A 4179_2923_975_Q->* 450 oneKG Variants: 450 chr12:122757531:G:A 4179_4070_1357_P->L 0.000199681 450 chr12:122757621:T:C 4179_3980_1327_K->R 0.000199681 450 chr12:122758610:C:T 4179_3928_1310_G->R 0.000199681 450 chr12:122763670:C:A 4179_3532_1178_A->S 0.00359425 450 chr12:122803892:C:A 4179_3115_1039_A->S 0.000199681 450 chr12:122812503:G:C 4179_3102_1034_D->E 0.40655 450 chr12:122812660:C:T 4179_2945_982_R->K 0.000199681 450 chr12:122812687:T:C 4179_2918_973_H->R 0.000199681 450 chr12:122812693:G:T 4179_2912_971_T->K 0.0974441 450 chr12:122812697:C:T 4179_2908_970_E->K 0.0974441 450 chr12:122812699:A:C 4179_2906_969_M->R 0.0425319 450 chr12:122812815:G:A 4179_2888_963_S->L 0.000199681 450 chr12:122812898:G:T 4179_2805_935_D->E 0.000199681 450 chr12:122817561:A:C 4179_2702_901_M->R 0.000199681 450 chr12:122817580:A:G 4179_2683_895_S->P 0.0313498 450 chr12:122817613:T:G 4179_2650_884_I->L 0.000199681 450 chr12:122817673:T:C 4179_2590_864_R->G 0.000199681 450 chr12:122817687:A:G 4179_2576_859_M->T 0.000599042 450 chr12:122821274:G:A 4179_2335_779_L->F 0.000199681 450 chr12:122825314:C:G 4179_2299_767_A->P 0.000199681 450 chr12:122825388:G:A 4179_2225_742_S->L 0.000399361 450 chr12:122825398:C:T 4179_2215_739_E->K 0.00658946 450 chr12:122825413:G:A 4179_2200_734_R->W 0.000798722 450 chr12:122825466:A:G 4179_2147_716_F->S 0.000399361 450 chr12:122825597:G:T 4179_2016_672_D->E 0.000199681 450 chr12:122825671:C:T 4179_1942_648_A->T 0.000798722 450 chr12:122825674:C:T 4179_1939_647_E->K 0.000399361 450 chr12:122825734:C:T 4179_1879_627_E->K 0.000199681 450 chr12:122825808:C:T 4179_1805_602_G->E 0.000199681 450 chr12:122825941:A:G 4179_1672_558_S->P 0.000199681 450 chr12:122825959:G:A 4179_1654_552_L->F 0.000199681 450 chr12:122826064:G:A 4179_1549_517_R->C 0.000199681 450 chr12:122826144:T:C 4179_1469_490_N->S 0.000199681 450 chr12:122826219:C:T 4179_1394_465_R->H 0.000199681 450 chr12:122826237:G:C 4179_1376_459_T->R 0.000199681 450 chr12:122837310:C:T 4179_1331_444_R->Q 0.000199681 450 chr12:122839835:C:T 4179_1030_344_A->T 0.000599042 450 chr12:122845529:T:C 4179_982_328_S->G 0.000199681 450 chr12:122845627:G:A 4179_884_295_A->V 0.000199681 450 chr12:122845667:C:T 4179_844_282_G->S 0.000199681 450 chr12:122845697:A:G 4179_814_272_F->L 0.000199681 450 chr12:122845698:C:A 4179_813_271_L->F 0.470847 450 chr12:122861989:C:G 4179_604_202_A->P 0.000599042 450 chr12:122862000:T:C 4179_593_198_N->S 0.000199681 450 chr12:122862048:G:A 4179_545_182_T->M 0.000399361 450 chr12:122862168:G:A 4179_425_142_A->V 0.000599042 450 chr12:122862183:A:C 4179_410_137_L->R 0.000199681 450 chr12:122862310:G:A 4179_283_95_P->S 0.000199681 450 chr12:122862331:C:T 4179_262_88_A->T 0.000199681 450 chr12:122864920:G:A 4179_80_27_T->M 0.00419329 450 chr12:122864993:T:C 4179_7_3_M->V 0.000798722 450 na12878 Variants: 450 chr12:122812503:G:C 4179_3102_1034_D->E 450 snyder Variants: 450 chr12:122864920:G:A 4179_80_27_T->M 450 chr12:122812503:G:C 4179_3102_1034_D->E 450 chr12:122864993:T:C 4179_7_3_M->V 451 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000130779_ENST00000540338 gene_Name: CLIP1_HUMAN 451 list of pdbs: 451 3RDV pdb_description: 29-Jun-11 X-ray 1.750 Structure of the slain2c-clipcg1 complex 451 3E2U pdb_description: 19-Aug-08 X-ray 2.600 Crystal structure of the zink-knuckle 2 domain of human clip complex with cap-gly domain of human dynactin-1 (p150-glued 451 2QK0 pdb_description: 02-Oct-07 X-ray 2.000 Structural basis of microtubule plus end tracking by xmap215, clip-170 and eb1 451 2HQH pdb_description: 21-Aug-07 X-ray 1.800 Crystal structure of p150glued and clip-170 451 2E4H pdb_description: 28-Aug-07 NMR 20 Solution structure of cytoskeletal protein in complex with tubulin tail 451 2E3I pdb_description: 28-Aug-07 X-ray 2.000 Crystal structure of the clip-170 cap-gly domain 1 451 2E3H pdb_description: 28-Aug-07 X-ray 1.450 Crystal structure of the clip-170 cap-gly domain 2 451 2CP6 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 2nd cap-gly domain in human clip- 170/restin 451 2CP5 pdb_description: 19-Nov-05 NMR 20 Solution structure of the 1st cap-gly domain in human clip- 170/restin 451 Zimmer Variants: 451 chr12:122817580:A:G 4317_2821_941_S->P 451 chr12:122812503:G:C 4317_3240_1080_D->E 451 HGMD Variants: 451 chr12:122812682:G:A 4317_3061_1021_Q->* 451 oneKG Variants: 451 chr12:122757531:G:A 4317_4208_1403_P->L 0.000199681 451 chr12:122757621:T:C 4317_4118_1373_K->R 0.000199681 451 chr12:122758610:C:T 4317_4066_1356_G->R 0.000199681 451 chr12:122763670:C:A 4317_3670_1224_A->S 0.00359425 451 chr12:122803892:C:A 4317_3253_1085_A->S 0.000199681 451 chr12:122812503:G:C 4317_3240_1080_D->E 0.40655 451 chr12:122812660:C:T 4317_3083_1028_R->K 0.000199681 451 chr12:122812687:T:C 4317_3056_1019_H->R 0.000199681 451 chr12:122812693:G:T 4317_3050_1017_T->K 0.0974441 451 chr12:122812697:C:T 4317_3046_1016_E->K 0.0974441 451 chr12:122812699:A:C 4317_3044_1015_M->R 0.0425319 451 chr12:122812815:G:A 4317_3026_1009_S->L 0.000199681 451 chr12:122812898:G:T 4317_2943_981_D->E 0.000199681 451 chr12:122817561:A:C 4317_2840_947_M->R 0.000199681 451 chr12:122817580:A:G 4317_2821_941_S->P 0.0313498 451 chr12:122817613:T:G 4317_2788_930_I->L 0.000199681 451 chr12:122817673:T:C 4317_2728_910_R->G 0.000199681 451 chr12:122817687:A:G 4317_2714_905_M->T 0.000599042 451 chr12:122821274:G:A 4317_2473_825_L->F 0.000199681 451 chr12:122825314:C:G 4317_2437_813_A->P 0.000199681 451 chr12:122825388:G:A 4317_2363_788_S->L 0.000399361 451 chr12:122825398:C:T 4317_2353_785_E->K 0.00658946 451 chr12:122825413:G:A 4317_2338_780_R->W 0.000798722 451 chr12:122825466:A:G 4317_2285_762_F->S 0.000399361 451 chr12:122825597:G:T 4317_2154_718_D->E 0.000199681 451 chr12:122825671:C:T 4317_2080_694_A->T 0.000798722 451 chr12:122825674:C:T 4317_2077_693_E->K 0.000399361 451 chr12:122825734:C:T 4317_2017_673_E->K 0.000199681 451 chr12:122825808:C:T 4317_1943_648_G->E 0.000199681 451 chr12:122825941:A:G 4317_1810_604_S->P 0.000199681 451 chr12:122825959:G:A 4317_1792_598_L->F 0.000199681 451 chr12:122826064:G:A 4317_1687_563_R->C 0.000199681 451 chr12:122826144:T:C 4317_1607_536_N->S 0.000199681 451 chr12:122826219:C:T 4317_1532_511_R->H 0.000199681 451 chr12:122826237:G:C 4317_1514_505_T->R 0.000199681 451 chr12:122835689:T:C 4317_1370_457_Q->R 0.000399361 451 chr12:122837310:C:T 4317_1331_444_R->Q 0.000199681 451 chr12:122839835:C:T 4317_1030_344_A->T 0.000599042 451 chr12:122845529:T:C 4317_982_328_S->G 0.000199681 451 chr12:122845627:G:A 4317_884_295_A->V 0.000199681 451 chr12:122845667:C:T 4317_844_282_G->S 0.000199681 451 chr12:122845697:A:G 4317_814_272_F->L 0.000199681 451 chr12:122845698:C:A 4317_813_271_L->F 0.470847 451 chr12:122861989:C:G 4317_604_202_A->P 0.000599042 451 chr12:122862000:T:C 4317_593_198_N->S 0.000199681 451 chr12:122862048:G:A 4317_545_182_T->M 0.000399361 451 chr12:122862168:G:A 4317_425_142_A->V 0.000599042 451 chr12:122862183:A:C 4317_410_137_L->R 0.000199681 451 chr12:122862310:G:A 4317_283_95_P->S 0.000199681 451 chr12:122862331:C:T 4317_262_88_A->T 0.000199681 451 chr12:122864920:G:A 4317_80_27_T->M 0.00419329 451 chr12:122864993:T:C 4317_7_3_M->V 0.000798722 451 na12878 Variants: 451 chr12:122812503:G:C 4317_3240_1080_D->E 451 snyder Variants: 451 chr12:122864920:G:A 4317_80_27_T->M 451 chr12:122812503:G:C 4317_3240_1080_D->E 451 chr12:122864993:T:C 4317_7_3_M->V 452 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000151067_ENST00000327702 gene_Name: CAC1C_HUMAN 452 list of pdbs: 452 3OXQ pdb_description: 03-Nov-10 X-ray 2.550 Crystal structure of ca2+/cam-cav1.2 pre-iq/iq domain comple 452 3G43 pdb_description: 03-Mar-09 X-ray 2.100 Crystal structure of the calmodulin-bound cav1.2 c-terminal regulatory domain dimer 452 2LQC pdb_description: 06-Jun-12 NMR 20 Nmr solution structure of a ca2+-calmodulin with a binding m (nscate) peptide from the n-terminal cytoplasmic domain of voltage-cated calcium channel alpha1c subunit 452 2F3Z pdb_description: 27-Dec-05 X-ray 1.600 Calmodulin/iq-aa domain complex 452 2F3Y pdb_description: 27-Dec-05 X-ray 1.450 Calmodulin/iq domain complex 452 2BE6 pdb_description: 15-Nov-05 X-ray 2.000 2.0 a crystal structure of the cav1.2 iq domain-ca/cam compl 452 1T0J pdb_description: 15-Jun-04 X-ray 2.000 Crystal structure of a complex between voltage-gated calcium beta2a subunit and a peptide of the alpha1c subunit 452 Zimmer Variants: 452 chr12:2791130:C:T 6522_5459_1820_P->L 452 chr12:2791132:A:G 6522_5461_1821_M->V 452 HGMD Variants: 452 chr12:2717843:C:T 6522_3523_1175_Q->* 452 chr12:2224422:G:A 6522_82_28_A->T 452 chr12:2224456:C:T 6522_116_39_A->V 452 chr12:2558176:C:T 6522_512_171_T->M 452 chr12:2595410:A:G 6522_898_300_N->D 452 chr12:2614098:G:A 6522_1204_402_G->S 452 chr12:2614110:G:A 6522_1216_406_G->R 452 chr12:2659186:G:A 6522_1468_490_G->R 452 chr12:2675719:A:G 6522_1640_547_N->S 452 chr12:2676810:C:A 6522_1745_582_A->D 452 chr12:2693756:A:G 6522_2312_771_E->G 452 chr12:2694651:C:T 6522_2449_817_P->S 452 chr12:2695040:A:G 6522_2500_834_K->E 452 chr12:2702418:C:T 6522_2570_857_P->L 452 chr12:2702418:C:G 6522_2570_857_P->R 452 chr12:2702421:G:A 6522_2573_858_R->H 452 chr12:2702426:C:G 6522_2578_860_R->G 452 chr12:2716283:G:A 6522_3343_1115_E->K 452 chr12:2717816:A:G 6522_3496_1166_I->V 452 chr12:2717817:T:C 6522_3497_1166_I->T 452 chr12:2774766:C:G 6522_4418_1473_A->G 452 chr12:2774773:C:G 6522_4425_1475_I->M 452 chr12:2774834:G:A 6522_4486_1496_E->K 452 chr12:2775890:G:A 6522_4565_1522_R->Q 452 chr12:2783799:C:T 6522_4819_1607_P->S 452 chr12:2788716:C:T 6522_5198_1733_A->V 452 chr12:2788857:G:A 6522_5339_1780_R->H 452 chr12:2794967:G:A 6522_5744_1915_R->Q 452 chr12:2794993:C:T 6522_5770_1924_R->C 452 chr12:2795368:G:A 6522_5822_1941_R->Q 452 chr12:2795382:G:C 6522_5836_1946_G->R 452 chr12:2797746:G:A 6522_6023_2008_R->Q 452 chr12:2797868:G:A 6522_6145_2049_V->I 452 chr12:2800336:G:A 6522_6493_2165_D->N 452 oneKG Variants: 452 chr12:2224411:G:A 6522_71_24_R->H 0.000199681 452 chr12:2224431:A:G 6522_91_31_N->D 0.000199681 452 chr12:2224441:C:T 6522_101_34_A->V 0.000399361 452 chr12:2224449:G:A 6522_109_37_G->R 0.000399361 452 chr12:2224570:G:T 6522_230_77_S->I 0.000199681 452 chr12:2558176:C:T 6522_512_171_T->M 0.000399361 452 chr12:2566866:G:A 6522_751_251_V->I 0.000199681 452 chr12:2595413:C:G 6522_901_301_Q->E 0.000599042 452 chr12:2595423:T:C 6522_911_304_I->T 0.000199681 452 chr12:2602389:C:A 6522_950_317_A->E 0.000199681 452 chr12:2614020:G:A 6522_1126_376_V->I 0.000199681 452 chr12:2622016:G:C 6522_1256_419_G->A 0.000199681 452 chr12:2659186:G:A 6522_1468_490_G->R 0.000399361 452 chr12:2676738:C:T 6522_1673_558_T->M 0.000599042 452 chr12:2676848:G:A 6522_1783_595_V->I 0.000399361 452 chr12:2676935:C:A 6522_1870_624_L->M 0.000199681 452 chr12:2694639:G:A 6522_2437_813_G->R 0.000199681 452 chr12:2694651:C:T 6522_2449_817_P->S 0.00159744 452 chr12:2702411:G:A 6522_2563_855_V->I 0.000199681 452 chr12:2702414:G:A 6522_2566_856_G->S 0.000399361 452 chr12:2714923:T:C 6522_3127_1043_F->L 0.000199681 452 chr12:2719762:A:G 6522_3614_1205_K->R 0.000399361 452 chr12:2788637:G:A 6522_5119_1707_V->I 0.000199681 452 chr12:2788638:T:C 6522_5120_1707_V->A 0.000998403 452 chr12:2788644:A:G 6522_5126_1709_Y->C 0.000199681 452 chr12:2788658:G:A 6522_5140_1714_G->S 0.000399361 452 chr12:2788667:G:A 6522_5149_1717_A->T 0.000599042 452 chr12:2788668:C:G 6522_5150_1717_A->G 0.000399361 452 chr12:2788680:C:G 6522_5162_1721_T->S 0.000199681 452 chr12:2788716:C:T 6522_5198_1733_A->V 0.000199681 452 chr12:2788811:G:A 6522_5293_1765_A->T 0.000399361 452 chr12:2788848:G:A 6522_5330_1777_R->H 0.000199681 452 chr12:2788878:C:T 6522_5360_1787_T->M 0.00678914 452 chr12:2788892:G:A 6522_5374_1792_E->K 0.000199681 452 chr12:2788901:G:A 6522_5383_1795_G->R 0.0159744 452 chr12:2791130:C:T 6522_5459_1820_P->L 0.330871 452 chr12:2791132:A:G 6522_5461_1821_M->V 0.229433 452 chr12:2791205:A:G 6522_5534_1845_K->R 0.0 452 chr12:2791217:C:T 6522_5546_1849_S->F 0.000199681 452 chr12:2791763:C:T 6522_5597_1866_T->M 0.000399361 452 chr12:2794904:T:C 6522_5681_1894_L->P 0.000399361 452 chr12:2794928:G:A 6522_5705_1902_R->Q 0.000199681 452 chr12:2794967:G:A 6522_5744_1915_R->Q 0.000399361 452 chr12:2794972:T:C 6522_5749_1917_S->P 0.000199681 452 chr12:2794976:C:T 6522_5753_1918_P->L 0.000199681 452 chr12:2794993:C:T 6522_5770_1924_R->C 0.00858626 452 chr12:2794994:G:A 6522_5771_1924_R->H 0.000199681 452 chr12:2794999:G:C 6522_5776_1926_A->P 0.000199681 452 chr12:2795380:G:A 6522_5834_1945_R->Q 0.000399361 452 chr12:2795388:G:A 6522_5842_1948_D->N 0.000399361 452 chr12:2795398:A:G 6522_5852_1951_Q->R 0.000798722 452 chr12:2797655:C:T 6522_5932_1978_H->Y 0.000199681 452 chr12:2797713:G:A 6522_5990_1997_R->Q 0.000599042 452 chr12:2797746:G:A 6522_6023_2008_R->Q 0.00319489 452 chr12:2797824:C:T 6522_6101_2034_T->I 0.000399361 452 chr12:2797829:G:A 6522_6106_2036_G->S 0.000399361 452 chr12:2797854:G:A 6522_6131_2044_R->Q 0.000199681 452 chr12:2797862:C:T 6522_6139_2047_R->W 0.000199681 452 chr12:2797868:G:A 6522_6145_2049_V->I 0.000199681 452 chr12:2800220:A:G 6522_6377_2126_N->S 0.000199681 452 chr12:2800268:G:C 6522_6425_2142_R->P 0.000199681 452 chr12:2800285:G:A 6522_6442_2148_D->N 0.000199681 452 na12878 Variants: 452 chr12:2791130:C:T 6522_5459_1820_P->L 452 chr12:2791132:A:G 6522_5461_1821_M->V 452 snyder Variants: 452 chr12:2791130:C:T 6522_5459_1820_P->L 452 chr12:2791132:A:G 6522_5461_1821_M->V 453 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000151067_ENST00000399617 gene_Name: CAC1C_HUMAN 453 list of pdbs: 453 3OXQ pdb_description: 03-Nov-10 X-ray 2.550 Crystal structure of ca2+/cam-cav1.2 pre-iq/iq domain comple 453 3G43 pdb_description: 03-Mar-09 X-ray 2.100 Crystal structure of the calmodulin-bound cav1.2 c-terminal regulatory domain dimer 453 2LQC pdb_description: 06-Jun-12 NMR 20 Nmr solution structure of a ca2+-calmodulin with a binding m (nscate) peptide from the n-terminal cytoplasmic domain of voltage-cated calcium channel alpha1c subunit 453 2F3Z pdb_description: 27-Dec-05 X-ray 1.600 Calmodulin/iq-aa domain complex 453 2F3Y pdb_description: 27-Dec-05 X-ray 1.450 Calmodulin/iq domain complex 453 2BE6 pdb_description: 15-Nov-05 X-ray 2.000 2.0 a crystal structure of the cav1.2 iq domain-ca/cam compl 453 1T0J pdb_description: 15-Jun-04 X-ray 2.000 Crystal structure of a complex between voltage-gated calcium beta2a subunit and a peptide of the alpha1c subunit 453 Zimmer Variants: 453 chr12:2791130:C:T 6522_5459_1820_P->L;HUB=PPI;GENE=CACNA1C;CDSS=2;DBRECUR=CACNA1C 453 chr12:2791132:A:G 6522_5461_1821_M->V;HUB=PPI;GENE=CACNA1C;CDSS=2;DBRECUR=CACNA1C 453 HGMD Variants: 453 chr12:2717843:C:T 6522_3523_1175_Q->* 453 chr12:2224422:G:A 6522_82_28_A->T 453 chr12:2224456:C:T 6522_116_39_A->V 453 chr12:2558176:C:T 6522_512_171_T->M 453 chr12:2595410:A:G 6522_898_300_N->D 453 chr12:2659186:G:A 6522_1468_490_G->R 453 chr12:2675719:A:G 6522_1640_547_N->S 453 chr12:2676810:C:A 6522_1745_582_A->D 453 chr12:2693756:A:G 6522_2312_771_E->G 453 chr12:2694651:C:T 6522_2449_817_P->S 453 chr12:2695040:A:G 6522_2500_834_K->E 453 chr12:2702418:C:T 6522_2570_857_P->L 453 chr12:2702418:C:G 6522_2570_857_P->R 453 chr12:2702421:G:A 6522_2573_858_R->H 453 chr12:2702426:C:G 6522_2578_860_R->G 453 chr12:2716283:G:A 6522_3343_1115_E->K 453 chr12:2717816:A:G 6522_3496_1166_I->V 453 chr12:2717817:T:C 6522_3497_1166_I->T 453 chr12:2774766:C:G 6522_4418_1473_A->G 453 chr12:2774773:C:G 6522_4425_1475_I->M 453 chr12:2774834:G:A 6522_4486_1496_E->K 453 chr12:2775890:G:A 6522_4565_1522_R->Q 453 chr12:2783799:C:T 6522_4819_1607_P->S 453 chr12:2788716:C:T 6522_5198_1733_A->V 453 chr12:2788857:G:A 6522_5339_1780_R->H 453 chr12:2794967:G:A 6522_5744_1915_R->Q 453 chr12:2794993:C:T 6522_5770_1924_R->C 453 chr12:2795368:G:A 6522_5822_1941_R->Q 453 chr12:2795382:G:C 6522_5836_1946_G->R 453 chr12:2797746:G:A 6522_6023_2008_R->Q 453 chr12:2797868:G:A 6522_6145_2049_V->I 453 chr12:2800336:G:A 6522_6493_2165_D->N 453 oneKG Variants: 453 chr12:2224411:G:A 6522_71_24_R->H 0.000199681 453 chr12:2224431:A:G 6522_91_31_N->D 0.000199681 453 chr12:2224441:C:T 6522_101_34_A->V 0.000399361 453 chr12:2224449:G:A 6522_109_37_G->R 0.000399361 453 chr12:2224570:G:T 6522_230_77_S->I 0.000199681 453 chr12:2558176:C:T 6522_512_171_T->M 0.000399361 453 chr12:2566866:G:A 6522_751_251_V->I 0.000199681 453 chr12:2595413:C:G 6522_901_301_Q->E 0.000599042 453 chr12:2595423:T:C 6522_911_304_I->T 0.000199681 453 chr12:2602389:C:A 6522_950_317_A->E 0.000199681 453 chr12:2622016:G:C 6522_1256_419_G->A 0.000199681 453 chr12:2659186:G:A 6522_1468_490_G->R 0.000399361 453 chr12:2676738:C:T 6522_1673_558_T->M 0.000599042 453 chr12:2676848:G:A 6522_1783_595_V->I 0.000399361 453 chr12:2676935:C:A 6522_1870_624_L->M 0.000199681 453 chr12:2694639:G:A 6522_2437_813_G->R 0.000199681 453 chr12:2694651:C:T 6522_2449_817_P->S 0.00159744 453 chr12:2702411:G:A 6522_2563_855_V->I 0.000199681 453 chr12:2702414:G:A 6522_2566_856_G->S 0.000399361 453 chr12:2714923:T:C 6522_3127_1043_F->L 0.000199681 453 chr12:2719762:A:G 6522_3614_1205_K->R 0.000399361 453 chr12:2742849:A:G 6522_3883_1295_I->V 0.00219649 453 chr12:2788637:G:A 6522_5119_1707_V->I 0.000199681 453 chr12:2788638:T:C 6522_5120_1707_V->A 0.000998403 453 chr12:2788644:A:G 6522_5126_1709_Y->C 0.000199681 453 chr12:2788658:G:A 6522_5140_1714_G->S 0.000399361 453 chr12:2788667:G:A 6522_5149_1717_A->T 0.000599042 453 chr12:2788668:C:G 6522_5150_1717_A->G 0.000399361 453 chr12:2788680:C:G 6522_5162_1721_T->S 0.000199681 453 chr12:2788716:C:T 6522_5198_1733_A->V 0.000199681 453 chr12:2788811:G:A 6522_5293_1765_A->T 0.000399361 453 chr12:2788848:G:A 6522_5330_1777_R->H 0.000199681 453 chr12:2788878:C:T 6522_5360_1787_T->M 0.00678914 453 chr12:2788892:G:A 6522_5374_1792_E->K 0.000199681 453 chr12:2788901:G:A 6522_5383_1795_G->R 0.0159744 453 chr12:2791130:C:T 6522_5459_1820_P->L 0.330871 453 chr12:2791132:A:G 6522_5461_1821_M->V 0.229433 453 chr12:2791205:A:G 6522_5534_1845_K->R 0.0 453 chr12:2791217:C:T 6522_5546_1849_S->F 0.000199681 453 chr12:2791763:C:T 6522_5597_1866_T->M 0.000399361 453 chr12:2794904:T:C 6522_5681_1894_L->P 0.000399361 453 chr12:2794928:G:A 6522_5705_1902_R->Q 0.000199681 453 chr12:2794967:G:A 6522_5744_1915_R->Q 0.000399361 453 chr12:2794972:T:C 6522_5749_1917_S->P 0.000199681 453 chr12:2794976:C:T 6522_5753_1918_P->L 0.000199681 453 chr12:2794993:C:T 6522_5770_1924_R->C 0.00858626 453 chr12:2794994:G:A 6522_5771_1924_R->H 0.000199681 453 chr12:2794999:G:C 6522_5776_1926_A->P 0.000199681 453 chr12:2795380:G:A 6522_5834_1945_R->Q 0.000399361 453 chr12:2795388:G:A 6522_5842_1948_D->N 0.000399361 453 chr12:2795398:A:G 6522_5852_1951_Q->R 0.000798722 453 chr12:2797655:C:T 6522_5932_1978_H->Y 0.000199681 453 chr12:2797713:G:A 6522_5990_1997_R->Q 0.000599042 453 chr12:2797746:G:A 6522_6023_2008_R->Q 0.00319489 453 chr12:2797824:C:T 6522_6101_2034_T->I 0.000399361 453 chr12:2797829:G:A 6522_6106_2036_G->S 0.000399361 453 chr12:2797854:G:A 6522_6131_2044_R->Q 0.000199681 453 chr12:2797862:C:T 6522_6139_2047_R->W 0.000199681 453 chr12:2797868:G:A 6522_6145_2049_V->I 0.000199681 453 chr12:2800220:A:G 6522_6377_2126_N->S 0.000199681 453 chr12:2800268:G:C 6522_6425_2142_R->P 0.000199681 453 chr12:2800285:G:A 6522_6442_2148_D->N 0.000199681 453 na12878 Variants: 453 chr12:2791130:C:T 6522_5459_1820_P->L 453 chr12:2791132:A:G 6522_5461_1821_M->V 453 snyder Variants: 453 chr12:2791130:C:T 6522_5459_1820_P->L 453 chr12:2791132:A:G 6522_5461_1821_M->V 454 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123329_ENST00000356411 gene_Name: RHG09_HUMAN 454 list of pdbs: 454 2P0H pdb_description: 27-Mar-07 X-ray 1.900 Arhgap9 ph domain in complex with ins(1,3,4)p3 454 2P0F pdb_description: 27-Mar-07 X-ray 1.910 Arhgap9 ph domain in complex with ins(1,3,5)p3 454 2P0D pdb_description: 27-Mar-07 X-ray 1.810 Arhgap9 ph domain in complex with ins(1,4,5)p3 454 Zimmer Variants: 454 chr12:57869582:T:C 2253_1345_449_T->A;GNEG=Yes;GENE=ARHGAP9;CDSS=2 454 chr12:57870155:A:C 2253_1108_370_S->A 454 HGMD Variants: 454 chr12:57870155:A:C 2253_1108_370_S->A 454 oneKG Variants: 454 chr12:57872944:A:T 2253_246_82_Y->* 0.000199681 454 chr12:57873135:G:A,C 2253_55_19_R->* 0.000399361 454 chr12:57866311:G:C 2253_2242_748_L->V 0.000199681 454 chr12:57866314:T:G 2253_2239_747_S->R 0.000199681 454 chr12:57866344:G:C 2253_2209_737_L->V 0.000798722 454 chr12:57866352:G:A 2253_2201_734_P->L 0.000199681 454 chr12:57867446:A:G 2253_2021_674_I->T 0.000399361 454 chr12:57867460:C:G 2253_2007_669_Q->H 0.000199681 454 chr12:57867885:G:A 2253_1915_639_R->W 0.00159744 454 chr12:57867953:C:T 2253_1847_616_R->Q 0.000199681 454 chr12:57868673:C:T 2253_1693_565_A->T 0.000199681 454 chr12:57868720:T:C 2253_1646_549_Q->R 0.000399361 454 chr12:57869153:G:T 2253_1530_510_N->K 0.000199681 454 chr12:57869304:G:A 2253_1463_488_S->F 0.000199681 454 chr12:57869373:C:A 2253_1394_465_R->L 0.000199681 454 chr12:57869582:T:C 2253_1345_449_T->A 0.409345 454 chr12:57869597:G:A 2253_1330_444_R->W 0.000199681 454 chr12:57869624:C:G 2253_1303_435_E->Q 0.000399361 454 chr12:57869885:C:A 2253_1181_394_R->L 0.000399361 454 chr12:57869924:C:A 2253_1142_381_S->I 0.000199681 454 chr12:57869928:C:T 2253_1138_380_E->K 0.000199681 454 chr12:57870155:A:C 2253_1108_370_S->A 0.370208 454 chr12:57870388:C:G 2253_1010_337_G->A 0.000399361 454 chr12:57870663:G:T 2253_954_318_D->E 0.00299521 454 chr12:57870664:T:C 2253_953_318_D->G 0.000199681 454 chr12:57870676:G:A 2253_941_314_P->L 0.000199681 454 chr12:57870707:G:C 2253_910_304_P->A 0.000199681 454 chr12:57870740:G:T 2253_877_293_L->I 0.00599042 454 chr12:57870968:T:G 2253_841_281_T->P 0.000199681 454 chr12:57871243:G:A 2253_755_252_T->M 0.000199681 454 chr12:57871247:C:T 2253_751_251_E->K 0.000399361 454 chr12:57871388:G:A 2253_610_204_P->S 0.000998403 454 chr12:57871402:C:T 2253_596_199_R->H 0.000199681 454 chr12:57871403:G:A 2253_595_199_R->C 0.000199681 454 chr12:57871433:G:T 2253_565_189_P->T 0.000199681 454 chr12:57872325:T:C 2253_532_178_T->A 0.000399361 454 chr12:57872345:G:A 2253_512_171_P->L 0.000199681 454 chr12:57872372:C:T 2253_485_162_G->E 0.000599042 454 chr12:57872374:G:A,C 2253_483_161_S->R 0.000998403 454 chr12:57872424:T:G 2253_433_145_T->P 0.000199681 454 chr12:57872447:C:T 2253_410_137_R->H 0.0061901 454 chr12:57872448:G:A 2253_409_137_R->C 0.00239617 454 chr12:57872537:G:A 2253_320_107_P->L 0.000399361 454 chr12:57872910:T:C 2253_280_94_T->A 0.000199681 454 chr12:57872939:A:G 2253_251_84_I->T 0.000199681 454 chr12:57872958:C:T 2253_232_78_V->I 0.000199681 454 chr12:57872966:G:T 2253_224_75_P->H 0.000199681 454 chr12:57873007:C:A 2253_183_61_W->C 0.000199681 454 chr12:57873012:C:T 2253_178_60_D->N 0.00119808 454 chr12:57873027:G:C 2253_163_55_R->G 0.000199681 454 chr12:57873042:T:C 2253_148_50_R->G 0.0626997 454 chr12:57873123:G:A 2253_67_23_R->W 0.000199681 454 chr12:57873128:G:T 2253_62_21_P->H 0.000199681 454 chr12:57873134:C:T 2253_56_19_R->Q 0.000199681 454 chr12:57873135:G:A,C 2253_55_19_R->G 0.000399361 454 chr12:57873176:C:T 2253_14_5_R->Q 0.00159744 454 chr12:57873177:G:A 2253_13_5_R->W 0.000399361 454 na12878 Variants: 454 chr12:57869582:T:C 2253_1345_449_T->A 454 snyder Variants: 454 chr12:57869582:T:C 2253_1345_449_T->A 454 chr12:57870155:A:C 2253_1108_370_S->A 455 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123329_ENST00000393797 gene_Name: 455 list of pdbs: 455 2P0H pdb_description: 27-Mar-07 X-ray 1.900 Arhgap9 ph domain in complex with ins(1,3,4)p3 455 2P0F pdb_description: 27-Mar-07 X-ray 1.910 Arhgap9 ph domain in complex with ins(1,3,5)p3 455 2P0D pdb_description: 27-Mar-07 X-ray 1.810 Arhgap9 ph domain in complex with ins(1,4,5)p3 455 Zimmer Variants: 455 chr12:57869582:T:C 2466_1558_520_T->A 455 chr12:57870155:A:C 2466_1321_441_S->A 455 HGMD Variants: 455 chr12:57870155:A:C 2466_1321_441_S->A 455 oneKG Variants: 455 chr12:57872944:A:T 2466_459_153_Y->* 0.000199681 455 chr12:57873135:G:A,C 2466_268_90_R->* 0.000399361 455 chr12:57866311:G:C 2466_2455_819_L->V 0.000199681 455 chr12:57866314:T:G 2466_2452_818_S->R 0.000199681 455 chr12:57866344:G:C 2466_2422_808_L->V 0.000798722 455 chr12:57866352:G:A 2466_2414_805_P->L 0.000199681 455 chr12:57867446:A:G 2466_2234_745_I->T 0.000399361 455 chr12:57867460:C:G 2466_2220_740_Q->H 0.000199681 455 chr12:57867885:G:A 2466_2128_710_R->W 0.00159744 455 chr12:57867953:C:T 2466_2060_687_R->Q 0.000199681 455 chr12:57868673:C:T 2466_1906_636_A->T 0.000199681 455 chr12:57868720:T:C 2466_1859_620_Q->R 0.000399361 455 chr12:57869153:G:T 2466_1743_581_N->K 0.000199681 455 chr12:57869304:G:A 2466_1676_559_S->F 0.000199681 455 chr12:57869373:C:A 2466_1607_536_R->L 0.000199681 455 chr12:57869582:T:C 2466_1558_520_T->A 0.409345 455 chr12:57869597:G:A 2466_1543_515_R->W 0.000199681 455 chr12:57869624:C:G 2466_1516_506_E->Q 0.000399361 455 chr12:57869885:C:A 2466_1394_465_R->L 0.000399361 455 chr12:57869924:C:A 2466_1355_452_S->I 0.000199681 455 chr12:57869928:C:T 2466_1351_451_E->K 0.000199681 455 chr12:57870155:A:C 2466_1321_441_S->A 0.370208 455 chr12:57870388:C:G 2466_1223_408_G->A 0.000399361 455 chr12:57870663:G:T 2466_1167_389_D->E 0.00299521 455 chr12:57870664:T:C 2466_1166_389_D->G 0.000199681 455 chr12:57870676:G:A 2466_1154_385_P->L 0.000199681 455 chr12:57870707:G:C 2466_1123_375_P->A 0.000199681 455 chr12:57870740:G:T 2466_1090_364_L->I 0.00599042 455 chr12:57870968:T:G 2466_1054_352_T->P 0.000199681 455 chr12:57871243:G:A 2466_968_323_T->M 0.000199681 455 chr12:57871247:C:T 2466_964_322_E->K 0.000399361 455 chr12:57871388:G:A 2466_823_275_P->S 0.000998403 455 chr12:57871402:C:T 2466_809_270_R->H 0.000199681 455 chr12:57871403:G:A 2466_808_270_R->C 0.000199681 455 chr12:57871433:G:T 2466_778_260_P->T 0.000199681 455 chr12:57872325:T:C 2466_745_249_T->A 0.000399361 455 chr12:57872345:G:A 2466_725_242_P->L 0.000199681 455 chr12:57872372:C:T 2466_698_233_G->E 0.000599042 455 chr12:57872374:G:A,C 2466_696_232_S->R 0.000998403 455 chr12:57872424:T:G 2466_646_216_T->P 0.000199681 455 chr12:57872447:C:T 2466_623_208_R->H 0.0061901 455 chr12:57872448:G:A 2466_622_208_R->C 0.00239617 455 chr12:57872537:G:A 2466_533_178_P->L 0.000399361 455 chr12:57872910:T:C 2466_493_165_T->A 0.000199681 455 chr12:57872939:A:G 2466_464_155_I->T 0.000199681 455 chr12:57872958:C:T 2466_445_149_V->I 0.000199681 455 chr12:57872966:G:T 2466_437_146_P->H 0.000199681 455 chr12:57873007:C:A 2466_396_132_W->C 0.000199681 455 chr12:57873012:C:T 2466_391_131_D->N 0.00119808 455 chr12:57873027:G:C 2466_376_126_R->G 0.000199681 455 chr12:57873042:T:C 2466_361_121_R->G 0.0626997 455 chr12:57873123:G:A 2466_280_94_R->W 0.000199681 455 chr12:57873128:G:T 2466_275_92_P->H 0.000199681 455 chr12:57873134:C:T 2466_269_90_R->Q 0.000199681 455 chr12:57873135:G:A,C 2466_268_90_R->G 0.000399361 455 chr12:57873176:C:T 2466_227_76_R->Q 0.00159744 455 chr12:57873177:G:A 2466_226_76_R->W 0.000399361 455 chr12:57874586:C:G 2466_111_37_E->D 0.000199681 455 chr12:57877681:G:T 2466_76_26_P->T 0.000199681 455 chr12:57877711:C:G 2466_46_16_A->P 0.0189696 455 na12878 Variants: 455 chr12:57869582:T:C 2466_1558_520_T->A 455 snyder Variants: 455 chr12:57869582:T:C 2466_1558_520_T->A 455 chr12:57870155:A:C 2466_1321_441_S->A 456 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000110799_ENST00000261405 gene_Name: VWF_HUMAN 456 list of pdbs: 456 4DMU pdb_description: 28-Mar-12 X-ray 2.800 Crystal structure of the von willebrand factor a3 domain in with a collagen iii derived triple-helical peptide 456 3ZQK pdb_description: 27-Jul-11 X-ray 1.700 Von willebrand factor a2 domain with calcium 456 3PPY pdb_description: 04-May-11 X-ray 2.000 Crystal structure of the d1596a/n1602a double mutant of an e vwf a2 domain (n1493c and c1670s) 456 3PPX pdb_description: 04-May-11 X-ray 1.910 Crystal structure of the n1602a mutant of an engineered vwf (n1493c and c1670s) 456 3PPW pdb_description: 04-May-11 X-ray 1.900 Crystal structure of the d1596a mutant of an engineered vwf (n1493c and c1670s) 456 3PPV pdb_description: 04-May-11 X-ray 1.900 Crystal structure of an engineered vwf a2 domain (n1493c and 456 3HXQ pdb_description: 17-Nov-09 X-ray 2.690 Crystal structure of von willebrand factor (vwf) a1 domain i with DNA aptamer arc1172, an inhibitor of vwf-platelet bind 456 3HXO pdb_description: 17-Nov-09 X-ray 2.400 Crystal structure of von willebrand factor (vwf) a1 domain i with DNA aptamer arc1172, an inhibitor of vwf-platelet bind 456 3GXB pdb_description: 05-May-09 X-ray 1.900 Crystal structure of vwf a2 domain 456 2ADF pdb_description: 06-Dec-05 X-ray 1.900 Crystal structure and paratope determination of 82d6a3, an antithrombotic antibody directed against the von willebrand a3-domain 456 1UEX pdb_description: 30-Sep-03 X-ray 2.850 Crystal structure of von willebrand factor a1 domain complexed with snake venom bitiscetin 456 1OAK pdb_description: 21-Oct-98 X-ray 2.200 Crystal structure of the von willebrand factor (vwf) a1 domain in complex with the function blocking nmc-4 fab 456 1IJK pdb_description: 10-Jul-02 X-ray 2.600 The von willebrand factor mutant (i546v) a1 domain- botrocetin complex 456 1IJB pdb_description: 10-Jul-02 X-ray 1.800 The von willebrand factor mutant (i546v) a1 domain 456 1FNS pdb_description: 18-Oct-00 X-ray 2.000 Crystal structure of the von willebrand factor (vwf) a1 doma mutant in complex with the function blocking fab nmc4 456 1FE8 pdb_description: 04-Apr-01 X-ray 2.030 Crystal structure of the von willebrand factor a3 domain in with a fab fragment of igg ru5 that inhibits collagen bindi 456 1AUQ pdb_description: 14-Oct-98 X-ray 2.300 A1 domain of von willebrand factor 456 1ATZ pdb_description: 25-Feb-98 X-ray 1.800 Human von willebrand factor a3 domain 456 1AO3 pdb_description: 22-Jul-98 X-ray 2.200 A3 domain of von willebrand factor 456 1U0N pdb_description: 19-Apr-05 X-ray 2.950 The ternary von willebrand factor a1-glycoprotein ibalpha- botrocetin complex 456 1SQ0 pdb_description: 13-Apr-04 X-ray 2.600 Crystal structure of the complex of the wild-type von willebrand factor a1 domain and glycoprotein ib alpha at 2.6 angstrom resolution 456 1M10 pdb_description: 28-Aug-02 X-ray 3.100 Crystal structure of the complex of glycoprotein ib alpha and the von willebrand factor a1 domain 456 Zimmer Variants: 456 chr12:6128443:T:C 8442_4141_1381_T->A;GNEG=Yes;GENE=VWF;CDSS=2;DBRECUR=VWF 456 chr12:6143984:T:C 8442_2555_852_Q->R;GNEG=Yes;GENE=VWF;CDSS=2;DBRECUR=VWF 456 chr12:6172202:T:C 8442_1451_484_H->R;GNEG=Yes;GENE=VWF;CDSS=2;DBRECUR=VWF 456 HGMD Variants: 456 chr12:6058276:G:A 8442_8347_2783_Q->* 456 chr12:6061020:G:T 8442_8145_2715_C->* 456 chr12:6078403:G:T 8442_7703_2568_S->* 456 chr12:6078455:G:A 8442_7651_2551_Q->* 456 chr12:6078476:G:A 8442_7630_2544_Q->* 456 chr12:6078503:G:A 8442_7603_2535_R->* 456 chr12:6078548:G:A 8442_7558_2520_Q->* 456 chr12:6080799:G:T 8442_7514_2505_S->* 456 chr12:6085306:G:A 8442_7408_2470_Q->* 456 chr12:6085315:G:A 8442_7399_2467_Q->* 456 chr12:6085370:G:T 8442_7344_2448_C->* 456 chr12:6085414:G:A 8442_7300_2434_R->* 456 chr12:6091063:A:C 8442_7176_2392_Y->* 456 chr12:6103136:G:A 8442_6490_2164_Q->* 456 chr12:6103241:C:A 8442_6385_2129_E->* 456 chr12:6105290:C:A 8442_5941_1981_E->* 456 chr12:6120834:G:A 8442_5791_1931_Q->* 456 chr12:6120933:G:A 8442_5692_1898_Q->* 456 chr12:6122710:G:A 8442_5557_1853_R->* 456 chr12:6125375:G:A 8442_5335_1779_R->* 456 chr12:6125793:G:A 8442_5200_1734_Q->* 456 chr12:6127609:G:A 8442_4975_1659_R->* 456 chr12:6127888:G:A 8442_4696_1566_R->* 456 chr12:6127939:C:A 8442_4645_1549_E->* 456 chr12:6127958:G:C 8442_4626_1542_Y->* 456 chr12:6128008:G:A 8442_4576_1526_Q->* 456 chr12:6128161:G:A 8442_4423_1475_Q->* 456 chr12:6128216:G:T 8442_4368_1456_Y->* 456 chr12:6128216:G:C 8442_4368_1456_Y->* 456 chr12:6128422:G:A 8442_4162_1388_Q->* 456 chr12:6128548:G:A 8442_4036_1346_Q->* 456 chr12:6128571:G:C 8442_4013_1338_S->* 456 chr12:6128578:G:A 8442_4006_1336_R->* 456 chr12:6128645:C:T 8442_3939_1313_W->* 456 chr12:6128653:G:A 8442_3931_1311_Q->* 456 chr12:6128784:A:T 8442_3800_1267_L->* 456 chr12:6128872:G:A 8442_3712_1238_Q->* 456 chr12:6131984:G:A 8442_3460_1154_Q->* 456 chr12:6132816:C:T 8442_3360_1120_W->* 456 chr12:6132873:G:T 8442_3303_1101_C->* 456 chr12:6140667:G:T 8442_2763_921_C->* 456 chr12:6143972:C:T 8442_2567_856_W->* 456 chr12:6153469:G:T 8442_2430_810_C->* 456 chr12:6153522:G:A 8442_2377_793_Q->* 456 chr12:6161779:G:A 8442_2116_706_Q->* 456 chr12:6166038:C:A 8442_1930_644_E->* 456 chr12:6166042:C:T 8442_1926_642_W->* 456 chr12:6166105:G:T 8442_1863_621_C->* 456 chr12:6166110:C:A 8442_1858_620_E->* 456 chr12:6166138:G:T 8442_1830_610_Y->* 456 chr12:6166156:G:C 8442_1812_604_Y->* 456 chr12:6167051:G:A 8442_1693_565_Q->* 456 chr12:6167085:C:T 8442_1659_553_W->* 456 chr12:6174341:G:A 8442_1255_419_Q->* 456 chr12:6180502:G:A 8442_1117_373_R->* 456 chr12:6181513:G:A 8442_1093_365_R->* 456 chr12:6181535:G:T 8442_1071_357_Y->* 456 chr12:6181556:G:T 8442_1050_350_C->* 456 chr12:6182812:G:A 8442_970_324_R->* 456 chr12:6182879:A:T 8442_903_301_Y->* 456 chr12:6184562:G:T 8442_813_271_Y->* 456 chr12:6184709:C:T 8442_666_222_W->* 456 chr12:6204631:G:A 8442_652_218_Q->* 456 chr12:6220045:G:A 8442_310_104_Q->* 456 chr12:6220126:G:A 8442_229_77_Q->* 456 chr12:6230348:G:T 8442_212_71_S->* 456 chr12:6230389:G:T 8442_171_57_C->* 456 chr12:6230460:G:A 8442_100_34_R->* 456 chr12:6058212:C:T 8442_8411_2804_C->Y 456 chr12:6058221:G:T 8442_8402_2801_A->D 456 chr12:6058282:G:A 8442_8341_2781_P->S 456 chr12:6058299:G:C 8442_8324_2775_S->C 456 chr12:6058305:C:G 8442_8318_2773_C->S 456 chr12:6058306:A:G 8442_8317_2773_C->R 456 chr12:6058311:C:T 8442_8312_2771_C->Y 456 chr12:6058312:A:G 8442_8311_2771_C->R 456 chr12:6058312:A:T 8442_8311_2771_C->S 456 chr12:6058361:A:C 8442_8262_2754_C->W 456 chr12:6058989:C:T 8442_8216_2739_C->Y 456 chr12:6059041:G:C 8442_8164_2722_P->A 456 chr12:6061594:C:T 8442_8078_2693_C->Y 456 chr12:6061645:C:A 8442_8027_2676_C->F 456 chr12:6061660:C:T 8442_8012_2671_C->Y 456 chr12:6061684:C:G 8442_7988_2663_R->P 456 chr12:6061685:G:A 8442_7987_2663_R->C 456 chr12:6062708:G:A 8442_7940_2647_T->M 456 chr12:6062742:T:A 8442_7906_2636_N->Y 456 chr12:6076683:C:T 8442_7856_2619_C->Y 456 chr12:6078470:T:A 8442_7636_2546_N->Y 456 chr12:6078502:C:T 8442_7604_2535_R->Q 456 chr12:6078547:T:G 8442_7559_2520_Q->P 456 chr12:6078554:C:T 8442_7552_2518_G->S 456 chr12:6080824:A:G 8442_7489_2497_S->P 456 chr12:6080842:A:G 8442_7471_2491_C->R 456 chr12:6085284:C:G 8442_7430_2477_C->S 456 chr12:6085284:C:T 8442_7430_2477_C->Y 456 chr12:6085309:A:G 8442_7405_2469_S->P 456 chr12:6085324:G:A 8442_7390_2464_R->C 456 chr12:6085371:C:T 8442_7343_2448_C->Y 456 chr12:6085393:C:A 8442_7321_2441_G->C 456 chr12:6091057:A:C 8442_7182_2394_C->W 456 chr12:6091089:G:A 8442_7150_2384_R->W 456 chr12:6091104:G:A 8442_7135_2379_R->C 456 chr12:6091154:C:A 8442_7085_2362_C->F 456 chr12:6092369:C:A 8442_7028_2343_G->V 456 chr12:6092379:A:G 8442_7018_2340_C->R 456 chr12:6092416:A:C 8442_6981_2327_C->W 456 chr12:6094214:A:T 8442_6973_2325_C->S 456 chr12:6094249:C:T 8442_6938_2313_R->H 456 chr12:6094255:C:T 8442_6932_2311_R->H 456 chr12:6094276:C:T 8442_6911_2304_C->Y 456 chr12:6094740:G:A 8442_6890_2297_P->L 456 chr12:6094762:T:A 8442_6868_2290_N->Y 456 chr12:6094770:C:T 8442_6860_2287_R->Q 456 chr12:6094771:G:A 8442_6859_2287_R->W 456 chr12:6094783:A:G 8442_6847_2283_C->R 456 chr12:6094819:A:C 8442_6811_2271_W->G 456 chr12:6101014:A:T 8442_6769_2257_C->S 456 chr12:6101073:C:A 8442_6710_2237_C->F 456 chr12:6101074:A:G 8442_6709_2237_C->R 456 chr12:6101085:T:C 8442_6698_2233_E->G 456 chr12:6101149:A:G 8442_6634_2212_C->R 456 chr12:6101163:A:G 8442_6620_2207_L->P 456 chr12:6103049:A:G 8442_6577_2193_W->R 456 chr12:6103057:C:T 8442_6569_2190_C->Y 456 chr12:6103072:C:T 8442_6554_2185_R->Q 456 chr12:6103075:C:G 8442_6551_2184_C->S 456 chr12:6103090:G:A 8442_6536_2179_S->F 456 chr12:6103106:A:C 8442_6520_2174_C->G 456 chr12:6103193:G:A 8442_6433_2145_P->S 456 chr12:6103315:G:A 8442_6311_2104_T->I 456 chr12:6103583:C:T 8442_6254_2085_C->Y 456 chr12:6103640:T:C 8442_6197_2066_N->S 456 chr12:6103650:G:A 8442_6187_2063_P->S 456 chr12:6103706:C:T 8442_6131_2044_G->D 456 chr12:6105380:T:C 8442_5851_1951_T->A 456 chr12:6120824:A:C 8442_5801_1934_V->G 456 chr12:6120827:G:A 8442_5798_1933_P->L 456 chr12:6120832:C:G 8442_5793_1931_Q->H 456 chr12:6120846:A:G 8442_5779_1927_C->R 456 chr12:6121256:C:A 8442_5661_1887_K->N 456 chr12:6121281:C:A 8442_5636_1879_C->F 456 chr12:6122718:T:A 8442_5549_1850_K->M 456 chr12:6122758:G:A 8442_5509_1837_R->W 456 chr12:6122796:G:T 8442_5471_1824_P->H 456 chr12:6122802:A:C 8442_5465_1822_V->G 456 chr12:6125257:T:C 8442_5453_1818_N->S 456 chr12:6125330:T:C 8442_5380_1794_K->E 456 chr12:6125354:G:C 8442_5356_1786_H->D 456 chr12:6125363:A:C 8442_5347_1783_S->A 456 chr12:6125389:A:G 8442_5321_1774_L->S 456 chr12:6125682:C:T 8442_5311_1771_G->R 456 chr12:6125711:A:T 8442_5282_1761_M->K 456 chr12:6125715:C:T 8442_5278_1760_V->I 456 chr12:6125758:C:A 8442_5235_1745_W->C 456 chr12:6125802:A:T 8442_5191_1731_S->T 456 chr12:6125944:C:G 8442_5146_1716_A->P 456 chr12:6126003:A:C 8442_5087_1696_L->R 456 chr12:6127565:C:G 8442_5019_1673_E->D 456 chr12:6127570:C:T 8442_5014_1672_G->R 456 chr12:6127580:C:A 8442_5004_1668_R->S 456 chr12:6127583:C:G 8442_5001_1667_Q->H 456 chr12:6127590:A:T 8442_4994_1665_V->E 456 chr12:6127614:A:T 8442_4970_1657_L->H 456 chr12:6127615:G:T 8442_4969_1657_L->I 456 chr12:6127638:A:T 8442_4946_1649_I->N 456 chr12:6127642:G:A 8442_4942_1648_P->S 456 chr12:6127644:G:T 8442_4940_1647_A->D 456 chr12:6127657:C:T 8442_4927_1643_G->S 456 chr12:6127668:A:G 8442_4916_1639_L->P 456 chr12:6127672:C:T 8442_4912_1638_E->K 456 chr12:6127680:T:G 8442_4904_1635_N->T 456 chr12:6127680:T:A 8442_4904_1635_N->I 456 chr12:6127692:C:T 8442_4892_1631_G->D 456 chr12:6127695:A:T 8442_4889_1630_V->E 456 chr12:6127698:C:T 8442_4886_1629_G->E 456 chr12:6127699:C:G 8442_4885_1629_G->R 456 chr12:6127699:C:T 8442_4885_1629_G->R 456 chr12:6127701:A:G 8442_4883_1628_I->T 456 chr12:6127704:G:T 8442_4880_1627_P->H 456 chr12:6127743:T:C 8442_4841_1614_D->G 456 chr12:6127747:A:G 8442_4837_1613_S->P 456 chr12:6127759:C:T 8442_4825_1609_G->R 456 chr12:6127764:A:T 8442_4820_1607_V->D 456 chr12:6127774:C:A 8442_4810_1604_V->F 456 chr12:6127783:G:T 8442_4801_1601_P->T 456 chr12:6127794:C:T 8442_4790_1597_R->Q 456 chr12:6127794:C:A 8442_4790_1597_R->L 456 chr12:6127795:G:C 8442_4789_1597_R->G 456 chr12:6127795:G:A 8442_4789_1597_R->W 456 chr12:6127833:T:C 8442_4751_1584_Y->C 456 chr12:6127836:C:T 8442_4748_1583_R->Q 456 chr12:6127837:G:A 8442_4747_1583_R->W 456 chr12:6127845:A:G 8442_4739_1580_L->P 456 chr12:6127846:G:C 8442_4738_1580_L->V 456 chr12:6127849:C:T 8442_4735_1579_G->R 456 chr12:6127871:C:G 8442_4713_1571_Q->H 456 chr12:6127881:A:T 8442_4703_1568_I->N 456 chr12:6127891:C:A 8442_4693_1565_V->L 456 chr12:6127899:A:G 8442_4685_1562_L->P 456 chr12:6127917:T:C 8442_4667_1556_Q->R 456 chr12:6127939:C:T 8442_4645_1549_E->K 456 chr12:6127956:G:A 8442_4628_1543_S->F 456 chr12:6127965:A:G 8442_4619_1540_L->P 456 chr12:6127968:A:T 8442_4616_1539_V->E 456 chr12:6128002:T:C 8442_4582_1528_M->V 456 chr12:6128004:C:T 8442_4580_1527_R->Q 456 chr12:6128006:C:A 8442_4578_1526_Q->H 456 chr12:6128013:A:C 8442_4571_1524_V->G 456 chr12:6128032:T:C 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chr12:6128247:A:G 8442_4337_1446_L->P 456 chr12:6128260:T:C 8442_4324_1442_S->G 456 chr12:6128269:C:T 8442_4315_1439_V->M 456 chr12:6128275:C:T 8442_4309_1437_A->T 456 chr12:6128280:T:C 8442_4304_1435_N->S 456 chr12:6128311:T:A 8442_4273_1425_I->F 456 chr12:6128321:G:C 8442_4263_1421_N->K 456 chr12:6128335:C:A 8442_4249_1417_G->W 456 chr12:6128337:A:T 8442_4247_1416_I->N 456 chr12:6128337:A:G 8442_4247_1416_I->T 456 chr12:6128340:C:T 8442_4244_1415_G->D 456 chr12:6128346:G:A 8442_4238_1413_P->L 456 chr12:6128359:C:A 8442_4225_1409_V->F 456 chr12:6128379:T:G 8442_4205_1402_Q->P 456 chr12:6128389:G:A 8442_4195_1399_R->C 456 chr12:6128403:G:A 8442_4181_1394_S->F 456 chr12:6128419:C:G 8442_4165_1389_E->Q 456 chr12:6128419:C:T 8442_4165_1389_E->K 456 chr12:6128424:C:A 8442_4160_1387_S->I 456 chr12:6128436:A:C 8442_4148_1383_L->R 456 chr12:6128436:A:G 8442_4148_1383_L->P 456 chr12:6128439:A:G 8442_4145_1382_L->P 456 chr12:6128443:T:C 8442_4141_1381_T->A 456 chr12:6128446:T:C 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chr12:6101106:G:T 8442_6677_2226_S->Y 0.000199681 456 chr12:6103043:T:C 8442_6583_2195_T->A 0.000199681 456 chr12:6103072:C:T 8442_6554_2185_R->Q 0.0682907 456 chr12:6103073:G:A 8442_6553_2185_R->W 0.000199681 456 chr12:6103094:C:A 8442_6532_2178_A->S 0.00579073 456 chr12:6103113:C:A 8442_6513_2171_E->D 0.000199681 456 chr12:6103151:A:G 8442_6475_2159_F->L 0.000199681 456 chr12:6103202:G:A 8442_6424_2142_L->F 0.00239617 456 chr12:6103587:G:C 8442_6250_2084_L->V 0.000199681 456 chr12:6103650:G:A 8442_6187_2063_P->S 0.0111821 456 chr12:6103674:G:A 8442_6163_2055_L->F 0.000199681 456 chr12:6103699:G:C 8442_6138_2046_I->M 0.000199681 456 chr12:6103715:T:C 8442_6122_2041_N->S 0.000399361 456 chr12:6103733:C:T 8442_6104_2035_G->D 0.00179712 456 chr12:6105179:T:C 8442_6052_2018_S->G 0.000199681 456 chr12:6105266:G:C 8442_5965_1989_H->D 0.000199681 456 chr12:6120809:G:T 8442_5816_1939_T->N 0.000199681 456 chr12:6120832:C:G 8442_5793_1931_Q->H 0.000399361 456 chr12:6120842:G:C 8442_5783_1928_P->R 0.000199681 456 chr12:6120864:G:A 8442_5761_1921_R->W 0.000199681 456 chr12:6120881:T:A 8442_5744_1915_H->L 0.000199681 456 chr12:6120904:A:T 8442_5721_1907_D->E 0.000199681 456 chr12:6120930:A:G 8442_5695_1899_C->R 0.000199681 456 chr12:6121277:C:T 8442_5640_1880_M->I 0.000199681 456 chr12:6122734:C:T 8442_5533_1845_D->N 0.000199681 456 chr12:6122754:A:G 8442_5513_1838_I->T 0.000199681 456 chr12:6122775:T:C 8442_5492_1831_Y->C 0.000199681 456 chr12:6125326:G:A 8442_5384_1795_A->V 0.000798722 456 chr12:6125363:A:C 8442_5347_1783_S->A 0.000998403 456 chr12:6125715:C:T 8442_5278_1760_V->I 0.000798722 456 chr12:6125802:A:T 8442_5191_1731_S->T 0.000199681 456 chr12:6125820:G:A 8442_5173_1725_P->S 0.0123802 456 chr12:6125947:T:C 8442_5143_1715_K->E 0.000199681 456 chr12:6125976:G:A 8442_5114_1705_S->F 0.000199681 456 chr12:6125980:C:T 8442_5110_1704_A->T 0.000199681 456 chr12:6125983:G:A 8442_5107_1703_P->S 0.000199681 456 chr12:6126016:C:T 8442_5074_1692_V->M 0.000199681 456 chr12:6127546:G:A 8442_5038_1680_L->F 0.000199681 456 chr12:6127570:C:T 8442_5014_1672_G->R 0.000998403 456 chr12:6127734:T:C 8442_4850_1617_K->R 0.000199681 456 chr12:6127768:T:C 8442_4816_1606_M->V 0.000199681 456 chr12:6127833:T:C 8442_4751_1584_Y->C 0.000798722 456 chr12:6127836:C:T 8442_4748_1583_R->Q 0.000199681 456 chr12:6127837:G:A 8442_4747_1583_R->W 0.000199681 456 chr12:6127891:C:A 8442_4693_1565_V->L 0.175719 456 chr12:6127923:T:C 8442_4661_1554_E->G 0.000199681 456 chr12:6127971:G:A 8442_4613_1538_T->M 0.000199681 456 chr12:6128000:C:A 8442_4584_1528_M->I 0.000199681 456 chr12:6128085:G:A 8442_4499_1500_A->V 0.000798722 456 chr12:6128127:G:A 8442_4457_1486_S->L 0.00259585 456 chr12:6128170:C:A,G 8442_4414_1472_D->Y,2 0.000998403 456 chr12:6128170:C:A,G 8442_4414_1472_D->H 0.000998403 456 chr12:6128224:C:T 8442_4360_1454_V->I 0.0 456 chr12:6128269:C:T 8442_4315_1439_V->M 0.00139776 456 chr12:6128280:T:C 8442_4304_1435_N->S 0.0299521 456 chr12:6128308:G:A 8442_4276_1426_R->C 0.000199681 456 chr12:6128327:A:C 8442_4257_1419_H->Q 0.000199681 456 chr12:6128383:C:T 8442_4201_1401_V->I 0.000599042 456 chr12:6128388:C:T 8442_4196_1399_R->H 0.00199681 456 chr12:6128443:T:C 8442_4141_1381_T->A 0.224441 456 chr12:6128446:T:C 8442_4138_1380_I->V 0.0319489 456 chr12:6128454:G:A 8442_4130_1377_A->V 0.00119808 456 chr12:6128559:C:T 8442_4025_1342_R->H 0.000199681 456 chr12:6128560:G:A 8442_4024_1342_R->C 0.000399361 456 chr12:6128596:C:T 8442_3988_1330_G->R 0.000199681 456 chr12:6128610:G:A 8442_3974_1325_S->F 0.000199681 456 chr12:6128691:G:A 8442_3893_1298_A->V 0.000199681 456 chr12:6128716:C:T 8442_3868_1290_E->K 0.00139776 456 chr12:6128749:C:T 8442_3835_1279_V->I 0.000199681 456 chr12:6128787:G:T 8442_3797_1266_P->Q 0.00179712 456 chr12:6128853:A:G 8442_3731_1244_V->A 0.000199681 456 chr12:6128865:G:A 8442_3719_1240_P->L 0.000399361 456 chr12:6128892:T:C,G 8442_3692_1231_N->S,2 0.00279553 456 chr12:6128892:T:C,G 8442_3692_1231_N->T 0.00279553 456 chr12:6128898:A:C 8442_3686_1229_V->G 0.00898562 456 chr12:6131959:G:A 8442_3485_1162_P->L 0.0766773 456 chr12:6132811:G:A 8442_3365_1122_T->M 0.00139776 456 chr12:6132837:C:G 8442_3339_1113_Q->H 0.000199681 456 chr12:6132895:A:G 8442_3281_1094_I->T 0.0 456 chr12:6132907:G:A 8442_3269_1090_S->F 0.000199681 456 chr12:6134843:G:A 8442_3125_1042_S->F 0.000199681 456 chr12:6135077:T:C 8442_3103_1035_R->G 0.000199681 456 chr12:6135085:G:A 8442_3095_1032_A->V 0.000199681 456 chr12:6135091:T:C 8442_3089_1030_Q->R 0.00179712 456 chr12:6135094:G:A 8442_3086_1029_S->L 0.000599042 456 chr12:6135127:G:C 8442_3053_1018_P->R 0.000199681 456 chr12:6138548:C:T 8442_2927_976_R->H 0.000199681 456 chr12:6138575:C:T 8442_2900_967_G->D 0.00938498 456 chr12:6138597:G:A 8442_2878_960_R->W 0.000599042 456 chr12:6138636:T:C 8442_2839_947_M->V 0.000199681 456 chr12:6140615:C:T 8442_2815_939_G->R 0.000399361 456 chr12:6140659:C:T 8442_2771_924_R->Q 0.00678914 456 chr12:6140660:G:A 8442_2770_924_R->W 0.000199681 456 chr12:6140713:C:A 8442_2717_906_R->L 0.000199681 456 chr12:6140735:C:T 8442_2695_899_G->S 0.000599042 456 chr12:6143865:C:T 8442_2674_892_V->I 0.000199681 456 chr12:6143965:G:C 8442_2574_858_C->W 0.000199681 456 chr12:6143978:C:T 8442_2561_854_R->Q 0.00179712 456 chr12:6143984:T:C 8442_2555_852_Q->R 0.103035 456 chr12:6145590:G:T 8442_2510_837_A->D 0.0113818 456 chr12:6145591:C:T 8442_2509_837_A->T 0.000199681 456 chr12:6145603:C:T 8442_2497_833_G->S 0.000199681 456 chr12:6145649:A:T 8442_2451_817_H->Q 0.0423323 456 chr12:6153464:G:A 8442_2435_812_P->L 0.000399361 456 chr12:6153534:T:C 8442_2365_789_T->A 0.336262 456 chr12:6153559:G:C 8442_2340_780_N->K 0.000599042 456 chr12:6153567:C:T 8442_2332_778_A->T 0.000199681 456 chr12:6153587:A:G 8442_2312_771_M->T 0.000199681 456 chr12:6153591:G:A 8442_2308_770_P->S 0.000399361 456 chr12:6153617:C:T 8442_2282_761_S->N 0.000199681 456 chr12:6155901:G:C 8442_2269_757_L->V 0.000199681 456 chr12:6155950:C:T 8442_2220_740_M->I 0.0595048 456 chr12:6161871:G:A 8442_2024_675_P->L 0.000199681 456 chr12:6161904:G:A 8442_1991_664_P->L 0.000399361 456 chr12:6161928:T:C 8442_1967_656_Q->R 0.000199681 456 chr12:6166076:G:A 8442_1892_631_A->V 0.00139776 456 chr12:6166098:C:T 8442_1870_624_G->S 0.00159744 456 chr12:6166134:C:A 8442_1834_612_V->L 0.000199681 456 chr12:6166151:C:T 8442_1817_606_R->Q 0.00199681 456 chr12:6166215:C:T 8442_1753_585_A->T 0.000798722 456 chr12:6167016:C:A 8442_1728_576_M->I 0.00299521 456 chr12:6167119:G:C 8442_1625_542_A->G 0.000399361 456 chr12:6167131:G:A 8442_1613_538_P->L 0.000599042 456 chr12:6167138:G:A 8442_1606_536_L->F 0.000399361 456 chr12:6167150:C:G 8442_1594_532_G->R 0.000199681 456 chr12:6167182:C:G 8442_1562_521_C->S 0.000798722 456 chr12:6172134:T:C 8442_1519_507_R->G 0.00179712 456 chr12:6172137:C:T 8442_1516_506_G->R 0.000199681 456 chr12:6172190:G:C 8442_1463_488_A->G 0.00179712 456 chr12:6172194:T:C 8442_1459_487_T->A 0.000199681 456 chr12:6172202:T:C 8442_1451_484_H->R 0.48123 456 chr12:6172207:G:C 8442_1446_482_I->M 0.000199681 456 chr12:6173433:C:T 8442_1411_471_V->I 0.135982 456 chr12:6173538:G:A 8442_1306_436_R->C 0.000199681 456 chr12:6174304:T:C 8442_1292_431_Q->R 0.000199681 456 chr12:6174350:G:A 8442_1246_416_R->W 0.000199681 456 chr12:6174374:C:T 8442_1222_408_G->R 0.000199681 456 chr12:6181569:G:A 8442_1037_346_T->I 0.00439297 456 chr12:6182808:C:A 8442_974_325_C->F 0.00179712 456 chr12:6182811:C:T 8442_971_324_R->Q 0.000199681 456 chr12:6182828:A:T 8442_954_318_N->K 0.155551 456 chr12:6182857:C:A 8442_925_309_A->S 0.000199681 456 chr12:6182858:G:C 8442_924_308_C->W 0.000199681 456 chr12:6182865:G:C 8442_917_306_S->C 0.000199681 456 chr12:6184558:G:A 8442_817_273_R->W 0.000199681 456 chr12:6184647:G:A 8442_728_243_P->L 0.000199681 456 chr12:6184648:G:A 8442_727_243_P->S 0.000199681 456 chr12:6219548:G:A 8442_524_175_T->I 0.000199681 456 chr12:6219557:T:C 8442_515_172_D->G 0.000199681 456 chr12:6219603:T:C 8442_469_157_K->E 0.000199681 456 chr12:6219605:T:C 8442_467_156_N->S 0.000199681 456 chr12:6219654:T:C 8442_418_140_I->V 0.000199681 456 chr12:6219657:T:C 8442_415_139_R->G 0.000199681 456 chr12:6219663:C:A 8442_409_137_V->L 0.000599042 456 chr12:6219681:C:T 8442_391_131_G->S 0.00858626 456 chr12:6219687:G:T 8442_385_129_L->M 0.00319489 456 chr12:6220051:C:T 8442_304_102_V->M 0.000798722 456 chr12:6230441:C:A 8442_119_40_S->I 0.000199681 456 chr12:6230463:C:G 8442_97_33_A->P 0.000199681 456 chr12:6230465:G:A 8442_95_32_T->M 0.000199681 456 chr12:6232308:C:T 8442_55_19_G->R 0.000199681 456 na12878 Variants: 456 chr12:6153534:T:C 8442_2365_789_T->A 456 chr12:6143984:T:C 8442_2555_852_Q->R 456 chr12:6172202:T:C 8442_1451_484_H->R 456 snyder Variants: 456 chr12:6153534:T:C 8442_2365_789_T->A 456 chr12:6128443:T:C 8442_4141_1381_T->A 456 chr12:6143984:T:C 8442_2555_852_Q->R 456 chr12:6172202:T:C 8442_1451_484_H->R 456 chr12:6182828:A:T 8442_954_318_N->K 457 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000175899_ENST00000318602 gene_Name: A2MG_HUMAN 457 list of pdbs: 457 4ACQ pdb_description: 22-Feb-12 X-ray 4.300 Alpha-2 macroglobulin 457 2P9R pdb_description: 21-Aug-07 X-ray 2.300 Human alpha2-macroglogulin is composed of multiple domains, as predicted by homology with complement component c3 457 1BV8 pdb_description: 05-Apr-00 NMR 1 Receptor domain from alpha-2-macroglobulin 457 Zimmer Variants: 457 chr12:9232268:T:C 4425_2998_1000_I->V;HUB=PPI®GENE=A2M;CDSS=2;DBRECUR=A2M 457 chr12:9248233:T:C 4425_1915_639_N->D;HUB=PPI®GENE=A2M;CDSS=2;DBRECUR=A2M 457 HGMD Variants: 457 chr12:9225335:G:A 4425_3889_1297_R->C 457 chr12:9232268:T:C 4425_2998_1000_I->V 457 chr12:9232351:C:T 4425_2915_972_C->Y 457 oneKG Variants: 457 chr12:9254235:G:T 4425_1302_434_Y->* 0.014377 457 chr12:9221353:T:C 4425_4349_1450_Y->C 0.000199681 457 chr12:9222385:G:A 4425_4219_1407_R->W 0.00259585 457 chr12:9224982:G:A 4425_4076_1359_T->I 0.000199681 457 chr12:9225283:A:G 4425_3941_1314_M->T 0.000199681 457 chr12:9225290:A:G 4425_3934_1312_Y->H 0.000199681 457 chr12:9225395:G:T 4425_3829_1277_Q->K 0.000199681 457 chr12:9227196:G:A 4425_3716_1239_T->M 0.000399361 457 chr12:9229385:G:A 4425_3499_1167_L->F 0.000199681 457 chr12:9229390:T:C 4425_3494_1165_E->G 0.000199681 457 chr12:9229399:T:C 4425_3485_1162_K->R 0.00119808 457 chr12:9229986:C:T 4425_3307_1103_A->T 0.000199681 457 chr12:9230013:C:T 4425_3280_1094_G->R 0.000998403 457 chr12:9231867:C:T 4425_3092_1031_R->Q 0.000199681 457 chr12:9231901:G:A 4425_3058_1020_H->Y 0.000199681 457 chr12:9232268:T:C 4425_2998_1000_I->V 0.254393 457 chr12:9232360:G:A 4425_2906_969_P->L 0.000199681 457 chr12:9232405:A:G 4425_2861_954_I->T 0.000199681 457 chr12:9232702:C:G 4425_2842_948_V->L 0.000199681 457 chr12:9232723:C:T 4425_2821_941_E->K 0.000199681 457 chr12:9232732:T:C 4425_2812_938_N->D 0.00159744 457 chr12:9232743:T:A 4425_2801_934_K->I 0.00119808 457 chr12:9241813:G:C 4425_2753_918_S->C 0.000199681 457 chr12:9242596:C:A 4425_2620_874_A->S 0.000199681 457 chr12:9243017:G:A 4425_2531_844_A->V 0.0123802 457 chr12:9243018:C:T 4425_2530_844_A->T 0.000199681 457 chr12:9243855:C:T 4425_2411_804_R->H 0.000199681 457 chr12:9243856:G:T 4425_2410_804_R->S 0.000199681 457 chr12:9243984:G:C 4425_2282_761_T->S 0.000199681 457 chr12:9246089:T:C 4425_2212_738_T->A 0.000199681 457 chr12:9246166:A:G 4425_2135_712_V->A 0.000199681 457 chr12:9247643:C:T 4425_2051_684_R->H 0.000199681 457 chr12:9248233:T:C 4425_1915_639_N->D 0.002196 457 chr12:9248289:T:C 4425_1859_620_N->S 0.000199681 457 chr12:9251234:A:G 4425_1820_607_M->T 0.000199681 457 chr12:9251294:A:G 4425_1760_587_V->A 0.000199681 457 chr12:9251297:C:T 4425_1757_586_R->Q 0.000399361 457 chr12:9252000:C:T 4425_1678_560_V->I 0.000199681 457 chr12:9252098:G:A 4425_1580_527_S->L 0.000199681 457 chr12:9254054:A:C 4425_1483_495_F->V 0.000199681 457 chr12:9254135:G:T 4425_1402_468_L->I 0.000399361 457 chr12:9254153:C:T 4425_1384_462_E->K 0.00139776 457 chr12:9254198:T:C 4425_1339_447_T->A 0.000199681 457 chr12:9254204:G:A 4425_1333_445_H->Y 0.000599042 457 chr12:9254254:C:T 4425_1283_428_R->H 0.00139776 457 chr12:9256843:T:A 4425_1258_420_T->S 0.000199681 457 chr12:9256992:C:T 4425_1109_370_R->H 0.000199681 457 chr12:9258834:G:C 4425_1102_368_Q->E 0.000599042 457 chr12:9258857:C:T 4425_1079_360_R->Q 0.0147764 457 chr12:9258863:T:C 4425_1073_358_H->R 0.000399361 457 chr12:9258879:C:G 4425_1057_353_V->L 0.000199681 457 chr12:9259159:C:T 4425_922_308_V->I 0.000199681 457 chr12:9260121:T:C 4425_878_293_Q->R 0.000599042 457 chr12:9260170:C:T 4425_829_277_D->N 0.00379393 457 chr12:9260217:G:A 4425_782_261_P->L 0.00379393 457 chr12:9262510:T:C 4425_626_209_K->R 0.000199681 457 chr12:9264759:T:A 4425_479_160_E->V 0.000199681 457 chr12:9264798:C:T 4425_440_147_R->H 0.000599042 457 chr12:9264799:G:A 4425_439_147_R->C 0.000199681 457 chr12:9265090:C:G 4425_313_105_V->L 0.000599042 457 chr12:9265099:A:G 4425_304_102_F->L 0.00359425 457 chr12:9265964:C:T 4425_262_88_A->T 0.000199681 457 chr12:9265979:C:T 4425_247_83_V->I 0.000199681 457 chr12:9266015:T:A 4425_211_71_R->W 0.000199681 457 chr12:9266056:G:A 4425_170_57_T->I 0.000599042 457 chr12:9266098:G:A 4425_128_43_T->I 0.000199681 457 chr12:9268393:A:C 4425_53_18_L->R 0.000199681 457 na12878 Variants: 457 chr12:9232268:T:C 4425_2998_1000_I->V 457 chr12:9248233:T:C 4425_1915_639_N->D 457 snyder Variants: 457 chr12:9232268:T:C 4425_2998_1000_I->V 457 chr12:9248233:T:C 4425_1915_639_N->D 458 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000102189_ENST00000322349 gene_Name: EEA1_HUMAN 458 list of pdbs: 458 3MJH pdb_description: 05-May-10 X-ray 2.030 Crystal structure of human rab5a in complex with the c2h2 zi of eea1 458 1JOC pdb_description: 28-Dec-01 X-ray 2.200 Eea1 homodimer of c-terminal fyve domain bound to inositol 1,3-diphosphate 458 1HYJ pdb_description: 14-Mar-01 NMR 20 Solution structure of the eea1 fyve domain 458 1HYI pdb_description: 14-Mar-01 NMR 20 Solution structure of the eea1 fyve domain complexed with inositol 1,3-bisphosphate 458 Zimmer Variants: 458 chr12:93196422:T:G 4236_2428_810_K->Q;GNEG=Yes;GENE=EEA1;CDSS=2 458 HGMD Variants: 458 chr12:93175846:A:T 4236_3216_1072_N->K 458 oneKG Variants: 458 chr12:93170622:G:C 4236_4111_1371_R->G 0.000199681 458 chr12:93171350:T:C 4236_3983_1328_Q->R 0.000199681 458 chr12:93171759:G:A 4236_3851_1284_T->M 0.000199681 458 chr12:93171786:C:T 4236_3824_1275_R->Q 0.000199681 458 chr12:93171826:G:A 4236_3784_1262_R->W 0.00698882 458 chr12:93175767:G:T 4236_3295_1099_Q->K 0.000199681 458 chr12:93175790:G:A 4236_3272_1091_S->L 0.000998403 458 chr12:93175846:A:T 4236_3216_1072_N->K 0.0105831 458 chr12:93181707:T:C 4236_3086_1029_K->R 0.000399361 458 chr12:93181731:T:C 4236_3062_1021_Y->C 0.000599042 458 chr12:93181764:T:C 4236_3029_1010_E->G 0.000599042 458 chr12:93181768:C:A 4236_3025_1009_A->S 0.0207668 458 chr12:93192813:A:G 4236_2822_941_I->T 0.000399361 458 chr12:93192834:T:C 4236_2801_934_N->S 0.000199681 458 chr12:93195435:T:A 4236_2713_905_M->L 0.0249601 458 chr12:93195442:T:A 4236_2706_902_Q->H 0.000399361 458 chr12:93196194:C:T 4236_2656_886_A->T 0.000798722 458 chr12:93196207:C:G 4236_2643_881_Q->H 0.000199681 458 chr12:93196233:T:C 4236_2617_873_K->E 0.000199681 458 chr12:93196292:G:A 4236_2558_853_T->I 0.000399361 458 chr12:93196332:C:T 4236_2518_840_E->K 0.00539137 458 chr12:93196422:T:G 4236_2428_810_K->Q 0.294529 458 chr12:93202913:A:C 4236_2219_740_L->R 0.000199681 458 chr12:93206776:C:T 4236_2023_675_A->T 0.000199681 458 chr12:93210040:C:T 4236_1865_622_S->N 0.000399361 458 chr12:93210073:G:A 4236_1832_611_A->V 0.000199681 458 chr12:93213265:C:T 4236_1547_516_R->H 0.000199681 458 chr12:93221691:C:G 4236_1401_467_E->D 0.000199681 458 chr12:93221765:G:C 4236_1327_443_L->V 0.000399361 458 chr12:93221768:G:C 4236_1324_442_Q->E 0.000199681 458 chr12:93221809:C:T 4236_1283_428_R->H 0.000399361 458 chr12:93226364:G:T 4236_1178_393_A->E 0.000199681 458 chr12:93226381:C:A 4236_1161_387_K->N 0.000199681 458 chr12:93226397:G:T 4236_1145_382_S->Y 0.000199681 458 chr12:93226515:C:T 4236_1027_343_D->N 0.000199681 458 chr12:93226533:C:A 4236_1009_337_A->S 0.000199681 458 chr12:93226565:T:A 4236_977_326_N->I 0.000199681 458 chr12:93236321:C:T 4236_835_279_G->S 0.000199681 458 chr12:93244928:C:A 4236_757_253_D->Y 0.000199681 458 chr12:93244948:C:T 4236_737_246_R->Q 0.000199681 458 chr12:93244954:C:T 4236_731_244_R->H 0.000199681 458 chr12:93244991:G:C 4236_694_232_Q->E 0.000199681 458 chr12:93245979:G:A 4236_614_205_T->I 0.000399361 458 chr12:93246010:G:A 4236_583_195_R->C 0.000599042 458 chr12:93246055:C:T 4236_538_180_D->N 0.000399361 458 chr12:93246726:A:T 4236_482_161_F->Y 0.000399361 458 chr12:93246739:T:G 4236_469_157_M->L 0.000199681 458 chr12:93246747:A:T 4236_461_154_I->N 0.000199681 458 chr12:93251098:C:G 4236_319_107_E->Q 0.00339457 458 chr12:93251209:T:C 4236_298_100_K->E 0.000199681 458 chr12:93258740:C:G 4236_141_47_M->I 0.000199681 458 na12878 Variants: 458 chr12:93196422:T:G 4236_2428_810_K->Q 458 snyder Variants: 458 chr12:93196422:T:G 4236_2428_810_K->Q 459 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132950_ENST00000337963 gene_Name: ZMYM5_HUMAN 459 list of pdbs: 459 2DAS pdb_description: 14-Jun-06 NMR 20 Solution structure of trash domain of zinc finger mym-type protein 5 459 Zimmer Variants: 459 chr13:20398669:T:C 2010_1958_653_H->R;HUB=REG;GENE=ZMYM5;CDSS=2 459 chr13:20398742:C:T 2010_1885_629_V->I;HUB=REG;GENE=ZMYM5;CDSS=2 459 chr13:20413021:T:C 2010_691_231_T->A 459 chr13:20425911:C:A 2010_410_137_C->F 459 chr13:20425948:T:C 2010_373_125_I->V 459 HGMD Variants: 459 chr13:20426175:G:C 2010_146_49_S->* 459 oneKG Variants: 459 chr13:20399048:G:A 2010_1579_527_R->* 0.000199681 459 chr13:20399359:G:T 2010_1268_423_S->* 0.000199681 459 chr13:20426175:G:C 2010_146_49_S->* 0.00119808 459 chr13:20398669:T:C 2010_1958_653_H->R 0.201478 459 chr13:20398730:C:T 2010_1897_633_V->I 0.000199681 459 chr13:20398738:T:C 2010_1889_630_N->S 0.000399361 459 chr13:20398742:C:T 2010_1885_629_V->I 0.202077 459 chr13:20398771:A:C 2010_1856_619_L->R 0.000199681 459 chr13:20398931:G:A 2010_1696_566_R->W 0.000199681 459 chr13:20398988:T:C 2010_1639_547_N->D 0.000199681 459 chr13:20399027:G:A 2010_1600_534_R->W 0.000199681 459 chr13:20399047:C:T 2010_1580_527_R->Q 0.000399361 459 chr13:20399069:C:T 2010_1558_520_A->T 0.000998403 459 chr13:20399090:T:C 2010_1537_513_I->V 0.000199681 459 chr13:20399255:C:T 2010_1372_458_G->R 0.000199681 459 chr13:20399260:A:G 2010_1367_456_I->T 0.000199681 459 chr13:20399263:T:A 2010_1364_455_K->I 0.000199681 459 chr13:20399284:G:A 2010_1343_448_S->L 0.000199681 459 chr13:20399310:T:G 2010_1317_439_E->D 0.000199681 459 chr13:20409628:C:T 2010_1240_414_E->K 0.000199681 459 chr13:20409804:T:A 2010_1064_355_N->I 0.000199681 459 chr13:20409811:C:T 2010_1057_353_V->I 0.000199681 459 chr13:20409825:C:T 2010_1043_348_R->H 0.000199681 459 chr13:20409826:G:A 2010_1042_348_R->C 0.000199681 459 chr13:20411939:T:G 2010_895_299_N->H 0.00399361 459 chr13:20411942:C:G 2010_892_298_A->P 0.000199681 459 chr13:20412858:C:T 2010_854_285_R->Q 0.000199681 459 chr13:20412895:G:A 2010_817_273_L->F 0.000199681 459 chr13:20412906:G:C 2010_806_269_S->C 0.000199681 459 chr13:20412933:C:T 2010_779_260_R->Q 0.000199681 459 chr13:20412963:G:C 2010_749_250_P->R 0.000199681 459 chr13:20413021:T:C 2010_691_231_T->A 0.0972444 459 chr13:20413035:T:C 2010_677_226_Q->R 0.000199681 459 chr13:20413054:C:A 2010_658_220_V->L 0.000199681 459 chr13:20413088:A:C 2010_624_208_N->K 0.000199681 459 chr13:20425539:C:T 2010_542_181_G->E 0.00638978 459 chr13:20425867:C:T 2010_454_152_D->N 0.000199681 459 chr13:20425870:T:C 2010_451_151_N->D 0.000199681 459 chr13:20425911:C:A,T 2010_410_137_C->F 0.096845 459 chr13:20425911:C:A,T 2010_410_137_C->Y 0.096845 459 chr13:20425942:T:C 2010_379_127_T->A 0.000199681 459 chr13:20425948:T:C 2010_373_125_I->V 0.0980431 459 chr13:20426116:G:A 2010_205_69_P->S 0.000199681 459 chr13:20426125:T:C 2010_196_66_I->V 0.000199681 459 chr13:20426142:A:ACAT,T 2010_179_60_V->D 0.000998403 459 chr13:20426178:T:C 2010_143_48_N->S 0.000199681 459 na12878 Variants: 459 chr13:20398669:T:C 2010_1958_653_H->R 459 chr13:20398742:C:T 2010_1885_629_V->I 459 chr13:20413021:T:C 2010_691_231_T->A 459 chr13:20425911:C:A 2010_410_137_C->F 459 chr13:20425948:T:C 2010_373_125_I->V 459 snyder Variants: 459 chr13:20398669:T:C 2010_1958_653_H->R 459 chr13:20398742:C:T 2010_1885_629_V->I 460 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000122025_ENST00000241453 gene_Name: FLT3_HUMAN 460 list of pdbs: 460 1RJB pdb_description: 03-Feb-04 X-ray 2.100 Crystal structure of flt3 460 3QS9 pdb_description: 16-Mar-11 X-ray 7.800 Crystal structure of a human flt3 ligand-receptor ternary co 460 3QS7 pdb_description: 16-Mar-11 X-ray 4.300 Crystal structure of a human flt3 ligand-receptor ternary co 460 Zimmer Variants: 460 chr13:28624294:G:A 2982_680_227_T->M 460 chr13:28674628:T:C 2982_20_7_D->G 460 HGMD Variants: 460 chr13:28623587:C:T 2982_970_324_D->N 460 oneKG Variants: 460 chr13:28578254:G:A 2982_2917_973_R->* 0.000199681 460 chr13:28578209:C:G 2982_2962_988_A->P 0.0113818 460 chr13:28578253:C:T 2982_2918_973_R->Q 0.00119808 460 chr13:28578272:G:A 2982_2899_967_H->Y 0.000399361 460 chr13:28578290:G:A 2982_2881_961_R->C 0.000199681 460 chr13:28578307:T:C 2982_2864_955_Y->C 0.000798722 460 chr13:28588590:G:A 2982_2858_953_A->V 0.000399361 460 chr13:28588626:G:A 2982_2822_941_S->L 0.000199681 460 chr13:28589325:T:C 2982_2722_908_M->V 0.000199681 460 chr13:28589367:C:T 2982_2680_894_V->I 0.000199681 460 chr13:28589834:C:T 2982_2546_849_R->H 0.000399361 460 chr13:28592606:T:C 2982_2539_847_N->D 0.000199681 460 chr13:28592686:G:T 2982_2459_820_T->N 0.000199681 460 chr13:28597522:C:T 2982_2383_795_V->I 0.000199681 460 chr13:28597569:T:A 2982_2336_779_D->V 0.000199681 460 chr13:28597593:T:G 2982_2312_771_Q->P 0.00119808 460 chr13:28599077:C:G 2982_2211_737_M->I 0.000399361 460 chr13:28601231:T:C 2982_2201_734_N->S 0.000199681 460 chr13:28608286:G:T 2982_1770_590_F->L 0.000199681 460 chr13:28608331:C:A 2982_1725_575_Q->H 0.000199681 460 chr13:28608473:C:T 2982_1669_557_V->I 0.0569089 460 chr13:28609652:G:A 2982_1577_526_T->M 0.000199681 460 chr13:28609690:C:A 2982_1539_513_K->N 0.000199681 460 chr13:28609744:C:G 2982_1485_495_W->C 0.000199681 460 chr13:28609806:T:G 2982_1423_475_T->P 0.00279553 460 chr13:28610093:T:C 2982_1397_466_K->R 0.000199681 460 chr13:28610141:G:A 2982_1349_450_A->V 0.000399361 460 chr13:28610153:G:A 2982_1337_446_S->L 0.00139776 460 chr13:28611336:G:A 2982_1295_432_T->M 0.000199681 460 chr13:28611358:C:T 2982_1273_425_A->T 0.000199681 460 chr13:28611382:T:G 2982_1249_417_I->L 0.0109824 460 chr13:28622530:G:C 2982_1087_363_Q->E 0.000199681 460 chr13:28622544:T:A 2982_1073_358_D->V 0.00499201 460 chr13:28622571:A:T 2982_1046_349_F->Y 0.00119808 460 chr13:28623529:G:A 2982_1028_343_T->I 0.000399361 460 chr13:28623587:C:T 2982_970_324_D->N 0.0071885 460 chr13:28623673:C:T 2982_884_295_G->D 0.000199681 460 chr13:28623777:C:T 2982_877_293_E->K 0.000199681 460 chr13:28623821:T:G 2982_833_278_N->T 0.000199681 460 chr13:28623831:C:T 2982_823_275_V->I 0.000199681 460 chr13:28623854:G:C 2982_800_267_P->R 0.000199681 460 chr13:28624245:C:G 2982_729_243_R->S 0.000199681 460 chr13:28624246:C:T 2982_728_243_R->K 0.00299521 460 chr13:28624249:G:C 2982_725_242_T->S 0.000199681 460 chr13:28624291:T:G 2982_683_228_D->A 0.000399361 460 chr13:28624294:G:A 2982_680_227_T->M 0.441294 460 chr13:28624298:C:G 2982_676_226_G->R 0.000199681 460 chr13:28624334:C:T 2982_640_214_V->I 0.000199681 460 chr13:28624348:T:C 2982_626_209_E->G 0.000199681 460 chr13:28626691:T:C 2982_605_202_Q->R 0.000199681 460 chr13:28626698:C:T 2982_598_200_D->N 0.000599042 460 chr13:28626716:C:T 2982_580_194_V->M 0.00199681 460 chr13:28626772:T:C 2982_524_175_K->R 0.000399361 460 chr13:28631516:T:C 2982_452_151_N->S 0.000199681 460 chr13:28631519:G:A 2982_449_150_T->I 0.00199681 460 chr13:28636025:G:C 2982_347_116_P->R 0.000798722 460 chr13:28636082:G:C 2982_290_97_A->G 0.000199681 460 chr13:28636143:C:T 2982_229_77_E->K 0.000199681 460 chr13:28644679:G:C 2982_114_38_I->M 0.000199681 460 chr13:28644747:C:G 2982_46_16_V->L 0.00119808 460 chr13:28674628:T:C 2982_20_7_D->G 0.373602 460 na12878 Variants: 460 chr13:28611382:T:G 2982_1249_417_I->L 460 chr13:28674628:T:C 2982_20_7_D->G 460 snyder Variants: 460 chr13:28624294:G:A 2982_680_227_T->M 460 chr13:28674628:T:C 2982_20_7_D->G 461 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000122025_ENST00000537084 gene_Name: FLT3_HUMAN 461 list of pdbs: 461 1RJB pdb_description: 03-Feb-04 X-ray 2.100 Crystal structure of flt3 461 3QS9 pdb_description: 16-Mar-11 X-ray 7.800 Crystal structure of a human flt3 ligand-receptor ternary co 461 3QS7 pdb_description: 16-Mar-11 X-ray 4.300 Crystal structure of a human flt3 ligand-receptor ternary co 461 Zimmer Variants: 461 chr13:28624294:G:A 2859_680_227_T->M 461 chr13:28674628:T:C 2859_20_7_D->G 461 HGMD Variants: 461 chr13:28623587:C:T 2859_970_324_D->N 461 oneKG Variants: 461 chr13:28578254:G:A 2859_2794_932_R->* 0.000199681 461 chr13:28578209:C:G 2859_2839_947_A->P 0.0113818 461 chr13:28578253:C:T 2859_2795_932_R->Q 0.00119808 461 chr13:28578272:G:A 2859_2776_926_H->Y 0.000399361 461 chr13:28578290:G:A 2859_2758_920_R->C 0.000199681 461 chr13:28578307:T:C 2859_2741_914_Y->C 0.000798722 461 chr13:28588590:G:A 2859_2735_912_A->V 0.000399361 461 chr13:28588626:G:A 2859_2699_900_S->L 0.000199681 461 chr13:28589325:T:C 2859_2599_867_M->V 0.000199681 461 chr13:28589367:C:T 2859_2557_853_V->I 0.000199681 461 chr13:28589834:C:T 2859_2423_808_R->H 0.000399361 461 chr13:28597522:C:T 2859_2383_795_V->I 0.000199681 461 chr13:28597569:T:A 2859_2336_779_D->V 0.000199681 461 chr13:28597593:T:G 2859_2312_771_Q->P 0.00119808 461 chr13:28599077:C:G 2859_2211_737_M->I 0.000399361 461 chr13:28601231:T:C 2859_2201_734_N->S 0.000199681 461 chr13:28608286:G:T 2859_1770_590_F->L 0.000199681 461 chr13:28608331:C:A 2859_1725_575_Q->H 0.000199681 461 chr13:28608473:C:T 2859_1669_557_V->I 0.0569089 461 chr13:28609652:G:A 2859_1577_526_T->M 0.000199681 461 chr13:28609690:C:A 2859_1539_513_K->N 0.000199681 461 chr13:28609744:C:G 2859_1485_495_W->C 0.000199681 461 chr13:28609806:T:G 2859_1423_475_T->P 0.00279553 461 chr13:28610093:T:C 2859_1397_466_K->R 0.000199681 461 chr13:28610141:G:A 2859_1349_450_A->V 0.000399361 461 chr13:28610153:G:A 2859_1337_446_S->L 0.00139776 461 chr13:28611336:G:A 2859_1295_432_T->M 0.000199681 461 chr13:28611358:C:T 2859_1273_425_A->T 0.000199681 461 chr13:28611382:T:G 2859_1249_417_I->L 0.0109824 461 chr13:28622530:G:C 2859_1087_363_Q->E 0.000199681 461 chr13:28622544:T:A 2859_1073_358_D->V 0.00499201 461 chr13:28622571:A:T 2859_1046_349_F->Y 0.00119808 461 chr13:28623529:G:A 2859_1028_343_T->I 0.000399361 461 chr13:28623587:C:T 2859_970_324_D->N 0.0071885 461 chr13:28623673:C:T 2859_884_295_G->D 0.000199681 461 chr13:28623777:C:T 2859_877_293_E->K 0.000199681 461 chr13:28623821:T:G 2859_833_278_N->T 0.000199681 461 chr13:28623831:C:T 2859_823_275_V->I 0.000199681 461 chr13:28623854:G:C 2859_800_267_P->R 0.000199681 461 chr13:28624245:C:G 2859_729_243_R->S 0.000199681 461 chr13:28624246:C:T 2859_728_243_R->K 0.00299521 461 chr13:28624249:G:C 2859_725_242_T->S 0.000199681 461 chr13:28624291:T:G 2859_683_228_D->A 0.000399361 461 chr13:28624294:G:A 2859_680_227_T->M 0.441294 461 chr13:28624298:C:G 2859_676_226_G->R 0.000199681 461 chr13:28624334:C:T 2859_640_214_V->I 0.000199681 461 chr13:28624348:T:C 2859_626_209_E->G 0.000199681 461 chr13:28626691:T:C 2859_605_202_Q->R 0.000199681 461 chr13:28626698:C:T 2859_598_200_D->N 0.000599042 461 chr13:28626716:C:T 2859_580_194_V->M 0.00199681 461 chr13:28626772:T:C 2859_524_175_K->R 0.000399361 461 chr13:28631516:T:C 2859_452_151_N->S 0.000199681 461 chr13:28631519:G:A 2859_449_150_T->I 0.00199681 461 chr13:28636025:G:C 2859_347_116_P->R 0.000798722 461 chr13:28636082:G:C 2859_290_97_A->G 0.000199681 461 chr13:28636143:C:T 2859_229_77_E->K 0.000199681 461 chr13:28644679:G:C 2859_114_38_I->M 0.000199681 461 chr13:28644747:C:G 2859_46_16_V->L 0.00119808 461 chr13:28674628:T:C 2859_20_7_D->G 0.373602 461 na12878 Variants: 461 chr13:28611382:T:G 2859_1249_417_I->L 461 chr13:28674628:T:C 2859_20_7_D->G 461 snyder Variants: 461 chr13:28624294:G:A 2859_680_227_T->M 461 chr13:28674628:T:C 2859_20_7_D->G 462 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123191_ENST00000242839 gene_Name: ATP7B_HUMAN 462 list of pdbs: 462 2ROP pdb_description: 21-Oct-08 NMR 20 Solution structure of domains 3 and 4 of human atp7b 462 2LQB pdb_description: 03-Jul-13 NMR 20 Metal binding repeat 2 of the wilson disease protein (atp7b) 462 2KOY pdb_description: 15-Dec-10 NMR 20 Structure of the e1064a mutant of the n-domain of wilson dis associated protein 462 2EW9 pdb_description: 16-May-06 NMR 31 Solution structure of apowln5-6 462 2ARF pdb_description: 28-Feb-06 NMR 10 Solution structure of the wilson atpase n-domain in the presence of atp 462 Zimmer Variants: 462 chr13:52523808:C:T 4398_2855_952_R->K 462 chr13:52524488:T:C 4398_2495_832_K->R 462 chr13:52515354:A:G 4398_3419_1140_V->A 462 chr13:52544805:C:G 4398_1366_456_V->L 462 chr13:52548140:A:C 4398_1216_406_S->A 462 HGMD Variants: 462 chr13:52509060:C:T 4398_4230_1410_W->* 462 chr13:52509739:G:A 4398_4114_1372_Q->* 462 chr13:52509795:C:T 4398_4058_1353_W->* 462 chr13:52509802:G:A 4398_4051_1351_Q->* 462 chr13:52511478:G:A 4398_3955_1319_R->* 462 chr13:52511686:G:A 4398_3829_1277_Q->* 462 chr13:52511743:T:A 4398_3772_1258_K->* 462 chr13:52513204:T:A 4398_3682_1228_R->* 462 chr13:52513288:G:A 4398_3598_1200_Q->* 462 chr13:52515315:C:T 4398_3458_1153_W->* 462 chr13:52515349:G:A 4398_3424_1142_Q->* 462 chr13:52516575:A:T 4398_3359_1120_L->* 462 chr13:52516671:A:T 4398_3263_1088_L->* 462 chr13:52516690:C:A 4398_3244_1082_E->* 462 chr13:52520593:G:A 4398_2887_963_Q->* 462 chr13:52523847:C:T 4398_2816_939_W->* 462 chr13:52523856:A:T 4398_2807_936_L->* 462 chr13:52523868:G:T 4398_2795_932_S->* 462 chr13:52523923:G:A 4398_2740_914_Q->* 462 chr13:52524145:T:A 4398_2728_910_K->* 462 chr13:52524474:C:A 4398_2509_837_G->* 462 chr13:52524528:G:A 4398_2455_819_Q->* 462 chr13:52531671:C:A 4398_2428_810_E->* 462 chr13:52531733:G:C 4398_2366_789_S->* 462 chr13:52532465:C:T 4398_2337_779_W->* 462 chr13:52532466:C:T 4398_2336_779_W->* 462 chr13:52532579:A:T 4398_2223_741_Y->* 462 chr13:52532653:G:A 4398_2149_717_Q->* 462 chr13:52532657:G:T 4398_2145_715_Y->* 462 chr13:52532666:C:T 4398_2136_712_W->* 462 chr13:52534367:G:A 4398_2038_680_Q->* 462 chr13:52534405:A:T 4398_2000_667_L->* 462 chr13:52534437:G:T 4398_1968_656_C->* 462 chr13:52534455:C:T 4398_1950_650_W->* 462 chr13:52542648:G:A 4398_1639_547_Q->* 462 chr13:52542657:G:A 4398_1630_544_Q->* 462 chr13:52542719:A:T 4398_1568_523_L->* 462 chr13:52544640:G:A 4398_1531_511_Q->* 462 chr13:52544701:G:T 4398_1470_490_C->* 462 chr13:52544802:G:A 4398_1369_457_Q->* 462 chr13:52548122:C:A 4398_1234_412_E->* 462 chr13:52548170:C:A 4398_1186_396_E->* 462 chr13:52548194:G:A 4398_1162_388_Q->* 462 chr13:52548224:C:A 4398_1132_378_E->* 462 chr13:52548293:G:A 4398_1063_355_Q->* 462 chr13:52548362:C:A 4398_994_332_E->* 462 chr13:52548441:A:T 4398_915_305_C->* 462 chr13:52548453:A:T 4398_903_301_Y->* 462 chr13:52548491:G:A 4398_865_289_Q->* 462 chr13:52548500:G:A 4398_856_286_Q->* 462 chr13:52548543:G:T 4398_813_271_C->* 462 chr13:52548706:A:C 4398_650_217_L->* 462 chr13:52548779:G:A 4398_577_193_Q->* 462 chr13:52548794:G:A 4398_562_188_Q->* 462 chr13:52548795:A:T 4398_561_187_Y->* 462 chr13:52548893:G:A 4398_463_155_Q->* 462 chr13:52549013:G:A 4398_343_115_Q->* 462 chr13:52549025:G:A 4398_331_111_Q->* 462 chr13:52549028:G:A 4398_328_110_Q->* 462 chr13:52549042:G:T 4398_314_105_S->* 462 chr13:52549073:G:A 4398_283_95_Q->* 462 chr13:52549140:A:T 4398_216_72_C->* 462 chr13:52508957:C:G 4398_4333_1445_A->P 462 chr13:52508989:G:A 4398_4301_1434_T->M 462 chr13:52508995:G:A 4398_4295_1432_S->F 462 chr13:52508998:G:T 4398_4292_1431_S->Y 462 chr13:52509013:C:A 4398_4277_1426_S->I 462 chr13:52509115:A:T 4398_4175_1392_M->K 462 chr13:52509155:G:A 4398_4135_1379_P->S 462 chr13:52509729:C:G 4398_4124_1375_C->S 462 chr13:52509735:A:C 4398_4118_1373_L->R 462 chr13:52509735:A:G 4398_4118_1373_L->P 462 chr13:52509741:A:G 4398_4112_1371_L->P 462 chr13:52509747:G:A 4398_4106_1369_S->L 462 chr13:52509750:A:G 4398_4103_1368_L->P 462 chr13:52509765:G:A 4398_4088_1363_S->F 462 chr13:52509769:A:C 4398_4084_1362_S->A 462 chr13:52509776:C:G 4398_4077_1359_M->I 462 chr13:52509778:T:C 4398_4075_1359_M->V 462 chr13:52509781:C:A 4398_4072_1358_A->S 462 chr13:52509783:G:A 4398_4070_1357_A->V 462 chr13:52509789:C:T 4398_4064_1355_G->D 462 chr13:52509790:C:A 4398_4063_1355_G->C 462 chr13:52509790:C:T 4398_4063_1355_G->S 462 chr13:52509796:A:T 4398_4057_1353_W->R 462 chr13:52509798:G:C 4398_4055_1352_P->R 462 chr13:52509798:G:A 4398_4055_1352_P->L 462 chr13:52509799:G:A 4398_4054_1352_P->S 462 chr13:52509810:A:T 4398_4043_1348_I->N 462 chr13:52509814:C:T 4398_4039_1347_G->S 462 chr13:52509831:C:A 4398_4022_1341_G->V 462 chr13:52509831:C:T 4398_4022_1341_G->D 462 chr13:52511412:C:T 4398_4021_1341_G->S 462 chr13:52511412:C:G 4398_4021_1341_G->R 462 chr13:52511426:A:G 4398_4007_1336_I->T 462 chr13:52511430:C:G 4398_4003_1335_G->R 462 chr13:52511432:A:T 4398_4001_1334_V->D 462 chr13:52511437:G:T 4398_3996_1332_N->K 462 chr13:52511439:T:C 4398_3994_1332_N->D 462 chr13:52511441:T:C 4398_3992_1331_Y->C 462 chr13:52511441:T:G 4398_3992_1331_Y->S 462 chr13:52511447:A:G 4398_3986_1329_L->P 462 chr13:52511451:C:T 4398_3982_1328_A->T 462 chr13:52511454:G:C 4398_3979_1327_L->V 462 chr13:52511462:T:C 4398_3971_1324_N->S 462 chr13:52511468:C:G 4398_3965_1322_R->P 462 chr13:52511471:A:T 4398_3962_1321_I->K 462 chr13:52511473:C:G 4398_3960_1320_R->S 462 chr13:52511492:G:C 4398_3941_1314_S->C 462 chr13:52511495:A:G 4398_3938_1313_L->P 462 chr13:52511505:T:G 4398_3928_1310_S->R 462 chr13:52511507:G:A 4398_3926_1309_A->V 462 chr13:52511508:C:G 4398_3925_1309_A->P 462 chr13:52511519:A:G 4398_3914_1305_L->P 462 chr13:52511521:C:A 4398_3912_1304_L->F 462 chr13:52511620:G:A 4398_3895_1299_L->F 462 chr13:52511623:C:G 4398_3892_1298_V->L 462 chr13:52511623:C:T 4398_3892_1298_V->I 462 chr13:52511625:A:T 4398_3890_1297_V->D 462 chr13:52511626:C:T 4398_3889_1297_V->I 462 chr13:52511629:C:T 4398_3886_1296_D->N 462 chr13:52511631:G:T 4398_3884_1295_A->D 462 chr13:52511631:G:A 4398_3884_1295_A->V 462 chr13:52511638:C:T 4398_3877_1293_E->K 462 chr13:52511652:G:A 4398_3863_1288_T->M 462 chr13:52511652:G:C 4398_3863_1288_T->R 462 chr13:52511656:C:G 4398_3859_1287_G->R 462 chr13:52511656:C:T 4398_3859_1287_G->S 462 chr13:52511673:C:T 4398_3842_1281_G->D 462 chr13:52511674:C:A 4398_3841_1281_G->C 462 chr13:52511679:T:C 4398_3836_1279_D->G 462 chr13:52511680:C:A 4398_3835_1279_D->Y 462 chr13:52511682:G:C 4398_3833_1278_A->G 462 chr13:52511682:G:A 4398_3833_1278_A->V 462 chr13:52511683:C:T 4398_3832_1278_A->T 462 chr13:52511694:G:A 4398_3821_1274_A->V 462 chr13:52511695:C:T 4398_3820_1274_A->T 462 chr13:52511697:G:A 4398_3818_1273_P->L 462 chr13:52511697:G:T 4398_3818_1273_P->Q 462 chr13:52511698:G:A 4398_3817_1273_P->S 462 chr13:52511704:C:T 4398_3811_1271_D->N 462 chr13:52511706:T:G 4398_3809_1270_N->T 462 chr13:52511706:T:C 4398_3809_1270_N->S 462 chr13:52511713:C:T 4398_3802_1268_G->R 462 chr13:52511715:T:G 4398_3800_1267_D->A 462 chr13:52511715:T:A 4398_3800_1267_D->V 462 chr13:52511716:C:T 4398_3799_1267_D->N 462 chr13:52511718:C:T 4398_3797_1266_G->E 462 chr13:52511718:C:A 4398_3797_1266_G->V 462 chr13:52511719:C:T 4398_3796_1266_G->R 462 chr13:52511719:C:A 4398_3796_1266_G->W 462 chr13:52511719:C:G 4398_3796_1266_G->R 462 chr13:52511731:C:A 4398_3784_1262_V->F 462 chr13:52511748:T:C 4398_3767_1256_Q->R 462 chr13:52511752:G:T 4398_3763_1255_L->I 462 chr13:52511761:C:T 4398_3754_1252_V->I 462 chr13:52511766:G:C 4398_3749_1250_A->G 462 chr13:52511771:C:G 4398_3744_1248_K->N 462 chr13:52511774:G:C 4398_3741_1247_H->Q 462 chr13:52511782:G:T 4398_3733_1245_P->T 462 chr13:52511793:G:A 4398_3722_1241_A->V 462 chr13:52511799:A:C 4398_3716_1239_V->G 462 chr13:52511808:A:G 4398_3707_1236_I->T 462 chr13:52511815:C:A 4398_3700_1234_V->F 462 chr13:52513188:T:G 4398_3698_1233_Q->P 462 chr13:52513192:T:G 4398_3694_1232_T->P 462 chr13:52513198:T:C 4398_3688_1230_I->V 462 chr13:52513203:C:G 4398_3683_1228_R->T 462 chr13:52513221:T:A 4398_3665_1222_D->V 462 chr13:52513222:C:T 4398_3664_1222_D->N 462 chr13:52513222:C:A 4398_3664_1222_D->Y 462 chr13:52513224:C:T 4398_3662_1221_G->E 462 chr13:52513227:G:A 4398_3659_1220_T->M 462 chr13:52513240:C:T 4398_3646_1216_V->M 462 chr13:52513242:T:C 4398_3644_1215_D->G 462 chr13:52513243:C:A 4398_3643_1215_D->Y 462 chr13:52513248:C:A 4398_3638_1213_G->V 462 chr13:52513266:T:C 4398_3620_1207_H->R 462 chr13:52513281:G:C 4398_3605_1202_A->G 462 chr13:52513287:T:G 4398_3599_1200_Q->P 462 chr13:52513297:C:T 4398_3589_1197_A->T 462 chr13:52513309:C:G 4398_3577_1193_A->P 462 chr13:52515217:C:A 4398_3556_1186_G->C 462 chr13:52515217:C:G 4398_3556_1186_G->R 462 chr13:52515217:C:T 4398_3556_1186_G->S 462 chr13:52515217:C:T 4398_3556_1186_G->S 462 chr13:52515222:A:G 4398_3551_1184_I->T 462 chr13:52515225:G:C 4398_3548_1183_A->G 462 chr13:52515226:C:T 4398_3547_1183_A->T 462 chr13:52515231:A:G 4398_3542_1181_L->P 462 chr13:52515241:T:C 4398_3532_1178_T->A 462 chr13:52515246:C:T 4398_3527_1176_G->E 462 chr13:52515247:C:T 4398_3526_1176_G->R 462 chr13:52515255:T:C 4398_3518_1173_E->G 462 chr13:52515256:C:T 4398_3517_1173_E->K 462 chr13:52515267:A:G 4398_3506_1169_M->T 462 chr13:52515268:T:C 4398_3505_1169_M->V 462 chr13:52515271:C:A 4398_3502_1168_A->S 462 chr13:52515271:C:G 4398_3502_1168_A->P 462 chr13:52515283:C:T 4398_3490_1164_D->N 462 chr13:52515300:C:A 4398_3473_1158_G->V 462 chr13:52515306:C:T 4398_3467_1156_R->H 462 chr13:52515312:A:G 4398_3461_1154_L->P 462 chr13:52515314:C:A 4398_3459_1153_W->C 462 chr13:52515316:A:G 4398_3457_1153_W->R 462 chr13:52515321:C:T 4398_3452_1151_R->H 462 chr13:52515322:G:A 4398_3451_1151_R->C 462 chr13:52515327:C:T 4398_3446_1149_G->E 462 chr13:52515327:C:G 4398_3446_1149_G->A 462 chr13:52515330:A:G 4398_3443_1148_I->T 462 chr13:52515337:C:T 4398_3436_1146_V->M 462 chr13:52515347:C:G 4398_3426_1142_Q->H 462 chr13:52515354:A:G 4398_3419_1140_V->A 462 chr13:52516528:C:T 4398_3406_1136_E->K 462 chr13:52516602:C:G 4398_3332_1111_G->A 462 chr13:52516602:C:T 4398_3332_1111_G->D 462 chr13:52516617:A:T 4398_3317_1106_V->D 462 chr13:52516618:C:T 4398_3316_1106_V->I 462 chr13:52516618:C:G 4398_3316_1106_V->L 462 chr13:52516623:C:A 4398_3311_1104_C->F 462 chr13:52516623:C:T 4398_3311_1104_C->Y 462 chr13:52516624:A:G 4398_3310_1104_C->R 462 chr13:52516629:A:G 4398_3305_1102_I->T 462 chr13:52516633:C:T 4398_3301_1101_G->R 462 chr13:52516639:C:T 4398_3295_1099_G->S 462 chr13:52516641:G:C 4398_3293_1098_P->R 462 chr13:52516650:T:G 4398_3284_1095_Q->P 462 chr13:52516652:G:C 4398_3282_1094_F->L 462 chr13:52516662:C:T 4398_3272_1091_C->Y 462 chr13:52516668:C:A 4398_3266_1089_G->V 462 chr13:52516668:C:T 4398_3266_1089_G->E 462 chr13:52516687:G:A 4398_3247_1083_L->F 462 chr13:52518252:C:A 4398_3236_1079_C->F 462 chr13:52518267:G:A 4398_3221_1074_A->V 462 chr13:52518280:G:A 4398_3208_1070_P->S 462 chr13:52518281:G:T 4398_3207_1069_H->Q 462 chr13:52518283:G:T 4398_3205_1069_H->N 462 chr13:52518283:G:A 4398_3205_1069_H->Y 462 chr13:52518285:T:C 4398_3203_1068_E->G 462 chr13:52518288:C:T 4398_3200_1067_S->N 462 chr13:52518295:C:G 4398_3193_1065_A->P 462 chr13:52518297:T:G 4398_3191_1064_E->A 462 chr13:52518298:C:T 4398_3190_1064_E->K 462 chr13:52518300:G:A 4398_3188_1063_A->V 462 chr13:52518306:C:T 4398_3182_1061_G->E 462 chr13:52518315:G:A 4398_3173_1058_A->V 462 chr13:52518318:A:G 4398_3170_1057_L->P 462 chr13:52518333:G:A 4398_3155_1052_P->L 462 chr13:52518348:T:A 4398_3140_1047_D->V 462 chr13:52518360:A:G 4398_3128_1043_L->P 462 chr13:52518366:C:G 4398_3122_1041_R->P 462 chr13:52518367:G:A 4398_3121_1041_R->W 462 chr13:52518375:C:T 4398_3113_1038_R->K 462 chr13:52518382:C:T 4398_3106_1036_V->I 462 chr13:52518384:C:A 4398_3104_1035_G->V 462 chr13:52518387:T:G 4398_3101_1034_H->P 462 chr13:52518390:G:C 4398_3098_1033_T->S 462 chr13:52518391:T:C 4398_3097_1033_T->A 462 chr13:52518397:T:C 4398_3091_1031_T->A 462 chr13:52518397:T:A 4398_3091_1031_T->S 462 chr13:52518399:C:T 4398_3089_1030_G->D 462 chr13:52518402:G:A 4398_3086_1029_T->I 462 chr13:52518414:A:T 4398_3074_1025_M->K 462 chr13:52518414:A:C 4398_3074_1025_M->R 462 chr13:52518417:A:G 4398_3071_1024_V->A 462 chr13:52518426:A:T 4398_3062_1021_I->K 462 chr13:52518427:T:C 4398_3061_1021_I->V 462 chr13:52520421:T:C 4398_3059_1020_K->R 462 chr13:52520427:G:A 4398_3053_1018_A->V 462 chr13:52520429:C:T 4398_3051_1017_M->I 462 chr13:52520439:G:A 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462 chr13:52549001:T:G 4398_355_119_M->L 0.000199681 462 chr13:52549119:C:A 4398_237_79_R->S 0.000199681 462 chr13:52549192:G:A 4398_164_55_S->F 0.000199681 462 chr13:52549235:T:C 4398_121_41_N->D 0.000199681 462 chr13:52549258:A:G 4398_98_33_M->T 0.000998403 462 na12878 Variants: 462 chr13:52523808:C:T 4398_2855_952_R->K 462 chr13:52524488:T:C 4398_2495_832_K->R 462 chr13:52515354:A:G 4398_3419_1140_V->A 462 chr13:52544805:C:G 4398_1366_456_V->L 462 chr13:52548140:A:C 4398_1216_406_S->A 462 snyder Variants: 462 chr13:52523808:C:T 4398_2855_952_R->K 462 chr13:52524488:T:C 4398_2495_832_K->R 462 chr13:52515354:A:G 4398_3419_1140_V->A 462 chr13:52544805:C:G 4398_1366_456_V->L 462 chr13:52548140:A:C 4398_1216_406_S->A 463 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123191_ENST00000400366 gene_Name: ATP7B_HUMAN 463 list of pdbs: 463 2ROP pdb_description: 21-Oct-08 NMR 20 Solution structure of domains 3 and 4 of human atp7b 463 2LQB pdb_description: 03-Jul-13 NMR 20 Metal binding repeat 2 of the wilson disease protein (atp7b) 463 2KOY pdb_description: 15-Dec-10 NMR 20 Structure of the e1064a mutant of the n-domain of wilson dis associated protein 463 2EW9 pdb_description: 16-May-06 NMR 31 Solution structure of apowln5-6 463 2ARF pdb_description: 28-Feb-06 NMR 10 Solution structure of the wilson atpase n-domain in the presence of atp 463 Zimmer Variants: 463 chr13:52523808:C:T 4065_2522_841_R->K 463 chr13:52524488:T:C 4065_2162_721_K->R 463 chr13:52515354:A:G 4065_3086_1029_V->A 463 chr13:52544805:C:G 4065_1033_345_V->L 463 chr13:52548140:A:C 4065_883_295_S->A 463 HGMD Variants: 463 chr13:52509060:C:T 4065_3897_1299_W->* 463 chr13:52509739:G:A 4065_3781_1261_Q->* 463 chr13:52509795:C:T 4065_3725_1242_W->* 463 chr13:52509802:G:A 4065_3718_1240_Q->* 463 chr13:52511478:G:A 4065_3622_1208_R->* 463 chr13:52511686:G:A 4065_3496_1166_Q->* 463 chr13:52511743:T:A 4065_3439_1147_K->* 463 chr13:52513204:T:A 4065_3349_1117_R->* 463 chr13:52513288:G:A 4065_3265_1089_Q->* 463 chr13:52515315:C:T 4065_3125_1042_W->* 463 chr13:52515349:G:A 4065_3091_1031_Q->* 463 chr13:52516575:A:T 4065_3026_1009_L->* 463 chr13:52516671:A:T 4065_2930_977_L->* 463 chr13:52516690:C:A 4065_2911_971_E->* 463 chr13:52520593:G:A 4065_2554_852_Q->* 463 chr13:52523847:C:T 4065_2483_828_W->* 463 chr13:52523856:A:T 4065_2474_825_L->* 463 chr13:52523868:G:T 4065_2462_821_S->* 463 chr13:52523923:G:A 4065_2407_803_Q->* 463 chr13:52524145:T:A 4065_2395_799_K->* 463 chr13:52524474:C:A 4065_2176_726_G->* 463 chr13:52524528:G:A 4065_2122_708_Q->* 463 chr13:52531671:C:A 4065_2095_699_E->* 463 chr13:52531733:G:C 4065_2033_678_S->* 463 chr13:52532465:C:T 4065_2004_668_W->* 463 chr13:52532466:C:T 4065_2003_668_W->* 463 chr13:52532579:A:T 4065_1890_630_Y->* 463 chr13:52532653:G:A 4065_1816_606_Q->* 463 chr13:52532657:G:T 4065_1812_604_Y->* 463 chr13:52532666:C:T 4065_1803_601_W->* 463 chr13:52534367:G:A 4065_1705_569_Q->* 463 chr13:52534405:A:T 4065_1667_556_L->* 463 chr13:52534437:G:T 4065_1635_545_C->* 463 chr13:52534455:C:T 4065_1617_539_W->* 463 chr13:52542648:G:A 4065_1306_436_Q->* 463 chr13:52542657:G:A 4065_1297_433_Q->* 463 chr13:52542719:A:T 4065_1235_412_L->* 463 chr13:52544640:G:A 4065_1198_400_Q->* 463 chr13:52544701:G:T 4065_1137_379_C->* 463 chr13:52544802:G:A 4065_1036_346_Q->* 463 chr13:52548122:C:A 4065_901_301_E->* 463 chr13:52548170:C:A 4065_853_285_E->* 463 chr13:52548194:G:A 4065_829_277_Q->* 463 chr13:52548706:A:C 4065_650_217_L->* 463 chr13:52548779:G:A 4065_577_193_Q->* 463 chr13:52548794:G:A 4065_562_188_Q->* 463 chr13:52548795:A:T 4065_561_187_Y->* 463 chr13:52548893:G:A 4065_463_155_Q->* 463 chr13:52549013:G:A 4065_343_115_Q->* 463 chr13:52549025:G:A 4065_331_111_Q->* 463 chr13:52549028:G:A 4065_328_110_Q->* 463 chr13:52549042:G:T 4065_314_105_S->* 463 chr13:52549073:G:A 4065_283_95_Q->* 463 chr13:52549140:A:T 4065_216_72_C->* 463 chr13:52508957:C:G 4065_4000_1334_A->P 463 chr13:52508989:G:A 4065_3968_1323_T->M 463 chr13:52508995:G:A 4065_3962_1321_S->F 463 chr13:52508998:G:T 4065_3959_1320_S->Y 463 chr13:52509013:C:A 4065_3944_1315_S->I 463 chr13:52509115:A:T 4065_3842_1281_M->K 463 chr13:52509155:G:A 4065_3802_1268_P->S 463 chr13:52509729:C:G 4065_3791_1264_C->S 463 chr13:52509735:A:C 4065_3785_1262_L->R 463 chr13:52509735:A:G 4065_3785_1262_L->P 463 chr13:52509741:A:G 4065_3779_1260_L->P 463 chr13:52509747:G:A 4065_3773_1258_S->L 463 chr13:52509750:A:G 4065_3770_1257_L->P 463 chr13:52509765:G:A 4065_3755_1252_S->F 463 chr13:52509769:A:C 4065_3751_1251_S->A 463 chr13:52509776:C:G 4065_3744_1248_M->I 463 chr13:52509778:T:C 4065_3742_1248_M->V 463 chr13:52509781:C:A 4065_3739_1247_A->S 463 chr13:52509783:G:A 4065_3737_1246_A->V 463 chr13:52509789:C:T 4065_3731_1244_G->D 463 chr13:52509790:C:A 4065_3730_1244_G->C 463 chr13:52509790:C:T 4065_3730_1244_G->S 463 chr13:52509796:A:T 4065_3724_1242_W->R 463 chr13:52509798:G:C 4065_3722_1241_P->R 463 chr13:52509798:G:A 4065_3722_1241_P->L 463 chr13:52509799:G:A 4065_3721_1241_P->S 463 chr13:52509810:A:T 4065_3710_1237_I->N 463 chr13:52509814:C:T 4065_3706_1236_G->S 463 chr13:52509831:C:A 4065_3689_1230_G->V 463 chr13:52509831:C:T 4065_3689_1230_G->D 463 chr13:52511412:C:T 4065_3688_1230_G->S 463 chr13:52511412:C:G 4065_3688_1230_G->R 463 chr13:52511426:A:G 4065_3674_1225_I->T 463 chr13:52511430:C:G 4065_3670_1224_G->R 463 chr13:52511432:A:T 4065_3668_1223_V->D 463 chr13:52511437:G:T 4065_3663_1221_N->K 463 chr13:52511439:T:C 4065_3661_1221_N->D 463 chr13:52511441:T:C 4065_3659_1220_Y->C 463 chr13:52511441:T:G 4065_3659_1220_Y->S 463 chr13:52511447:A:G 4065_3653_1218_L->P 463 chr13:52511451:C:T 4065_3649_1217_A->T 463 chr13:52511454:G:C 4065_3646_1216_L->V 463 chr13:52511462:T:C 4065_3638_1213_N->S 463 chr13:52511468:C:G 4065_3632_1211_R->P 463 chr13:52511471:A:T 4065_3629_1210_I->K 463 chr13:52511473:C:G 4065_3627_1209_R->S 463 chr13:52511492:G:C 4065_3608_1203_S->C 463 chr13:52511495:A:G 4065_3605_1202_L->P 463 chr13:52511505:T:G 4065_3595_1199_S->R 463 chr13:52511507:G:A 4065_3593_1198_A->V 463 chr13:52511508:C:G 4065_3592_1198_A->P 463 chr13:52511519:A:G 4065_3581_1194_L->P 463 chr13:52511521:C:A 4065_3579_1193_L->F 463 chr13:52511620:G:A 4065_3562_1188_L->F 463 chr13:52511623:C:G 4065_3559_1187_V->L 463 chr13:52511623:C:T 4065_3559_1187_V->I 463 chr13:52511625:A:T 4065_3557_1186_V->D 463 chr13:52511626:C:T 4065_3556_1186_V->I 463 chr13:52511629:C:T 4065_3553_1185_D->N 463 chr13:52511631:G:T 4065_3551_1184_A->D 463 chr13:52511631:G:A 4065_3551_1184_A->V 463 chr13:52511638:C:T 4065_3544_1182_E->K 463 chr13:52511652:G:A 4065_3530_1177_T->M 463 chr13:52511652:G:C 4065_3530_1177_T->R 463 chr13:52511656:C:G 4065_3526_1176_G->R 463 chr13:52511656:C:T 4065_3526_1176_G->S 463 chr13:52511673:C:T 4065_3509_1170_G->D 463 chr13:52511674:C:A 4065_3508_1170_G->C 463 chr13:52511679:T:C 4065_3503_1168_D->G 463 chr13:52511680:C:A 4065_3502_1168_D->Y 463 chr13:52511682:G:C 4065_3500_1167_A->G 463 chr13:52511682:G:A 4065_3500_1167_A->V 463 chr13:52511683:C:T 4065_3499_1167_A->T 463 chr13:52511694:G:A 4065_3488_1163_A->V 463 chr13:52511695:C:T 4065_3487_1163_A->T 463 chr13:52511697:G:A 4065_3485_1162_P->L 463 chr13:52511697:G:T 4065_3485_1162_P->Q 463 chr13:52511698:G:A 4065_3484_1162_P->S 463 chr13:52511704:C:T 4065_3478_1160_D->N 463 chr13:52511706:T:G 4065_3476_1159_N->T 463 chr13:52511706:T:C 4065_3476_1159_N->S 463 chr13:52511713:C:T 4065_3469_1157_G->R 463 chr13:52511715:T:G 4065_3467_1156_D->A 463 chr13:52511715:T:A 4065_3467_1156_D->V 463 chr13:52511716:C:T 4065_3466_1156_D->N 463 chr13:52511718:C:T 4065_3464_1155_G->E 463 chr13:52511718:C:A 4065_3464_1155_G->V 463 chr13:52511719:C:T 4065_3463_1155_G->R 463 chr13:52511719:C:A 4065_3463_1155_G->W 463 chr13:52511719:C:G 4065_3463_1155_G->R 463 chr13:52511731:C:A 4065_3451_1151_V->F 463 chr13:52511748:T:C 4065_3434_1145_Q->R 463 chr13:52511752:G:T 4065_3430_1144_L->I 463 chr13:52511761:C:T 4065_3421_1141_V->I 463 chr13:52511766:G:C 4065_3416_1139_A->G 463 chr13:52511771:C:G 4065_3411_1137_K->N 463 chr13:52511774:G:C 4065_3408_1136_H->Q 463 chr13:52511782:G:T 4065_3400_1134_P->T 463 chr13:52511793:G:A 4065_3389_1130_A->V 463 chr13:52511799:A:C 4065_3383_1128_V->G 463 chr13:52511808:A:G 4065_3374_1125_I->T 463 chr13:52511815:C:A 4065_3367_1123_V->F 463 chr13:52513188:T:G 4065_3365_1122_Q->P 463 chr13:52513192:T:G 4065_3361_1121_T->P 463 chr13:52513198:T:C 4065_3355_1119_I->V 463 chr13:52513203:C:G 4065_3350_1117_R->T 463 chr13:52513221:T:A 4065_3332_1111_D->V 463 chr13:52513222:C:T 4065_3331_1111_D->N 463 chr13:52513222:C:A 4065_3331_1111_D->Y 463 chr13:52513224:C:T 4065_3329_1110_G->E 463 chr13:52513227:G:A 4065_3326_1109_T->M 463 chr13:52513240:C:T 4065_3313_1105_V->M 463 chr13:52513242:T:C 4065_3311_1104_D->G 463 chr13:52513243:C:A 4065_3310_1104_D->Y 463 chr13:52513248:C:A 4065_3305_1102_G->V 463 chr13:52513266:T:C 4065_3287_1096_H->R 463 chr13:52513281:G:C 4065_3272_1091_A->G 463 chr13:52513287:T:G 4065_3266_1089_Q->P 463 chr13:52513297:C:T 4065_3256_1086_A->T 463 chr13:52513309:C:G 4065_3244_1082_A->P 463 chr13:52515217:C:A 4065_3223_1075_G->C 463 chr13:52515217:C:G 4065_3223_1075_G->R 463 chr13:52515217:C:T 4065_3223_1075_G->S 463 chr13:52515217:C:T 4065_3223_1075_G->S 463 chr13:52515222:A:G 4065_3218_1073_I->T 463 chr13:52515225:G:C 4065_3215_1072_A->G 463 chr13:52515226:C:T 4065_3214_1072_A->T 463 chr13:52515231:A:G 4065_3209_1070_L->P 463 chr13:52515241:T:C 4065_3199_1067_T->A 463 chr13:52515246:C:T 4065_3194_1065_G->E 463 chr13:52515247:C:T 4065_3193_1065_G->R 463 chr13:52515255:T:C 4065_3185_1062_E->G 463 chr13:52515256:C:T 4065_3184_1062_E->K 463 chr13:52515267:A:G 4065_3173_1058_M->T 463 chr13:52515268:T:C 4065_3172_1058_M->V 463 chr13:52515271:C:A 4065_3169_1057_A->S 463 chr13:52515271:C:G 4065_3169_1057_A->P 463 chr13:52515283:C:T 4065_3157_1053_D->N 463 chr13:52515300:C:A 4065_3140_1047_G->V 463 chr13:52515306:C:T 4065_3134_1045_R->H 463 chr13:52515312:A:G 4065_3128_1043_L->P 463 chr13:52515314:C:A 4065_3126_1042_W->C 463 chr13:52515316:A:G 4065_3124_1042_W->R 463 chr13:52515321:C:T 4065_3119_1040_R->H 463 chr13:52515322:G:A 4065_3118_1040_R->C 463 chr13:52515327:C:T 4065_3113_1038_G->E 463 chr13:52515327:C:G 4065_3113_1038_G->A 463 chr13:52515330:A:G 4065_3110_1037_I->T 463 chr13:52515337:C:T 4065_3103_1035_V->M 463 chr13:52515347:C:G 4065_3093_1031_Q->H 463 chr13:52515354:A:G 4065_3086_1029_V->A 463 chr13:52516528:C:T 4065_3073_1025_E->K 463 chr13:52516602:C:G 4065_2999_1000_G->A 463 chr13:52516602:C:T 4065_2999_1000_G->D 463 chr13:52516617:A:T 4065_2984_995_V->D 463 chr13:52516618:C:T 4065_2983_995_V->I 463 chr13:52516618:C:G 4065_2983_995_V->L 463 chr13:52516623:C:A 4065_2978_993_C->F 463 chr13:52516623:C:T 4065_2978_993_C->Y 463 chr13:52516624:A:G 4065_2977_993_C->R 463 chr13:52516629:A:G 4065_2972_991_I->T 463 chr13:52516633:C:T 4065_2968_990_G->R 463 chr13:52516639:C:T 4065_2962_988_G->S 463 chr13:52516641:G:C 4065_2960_987_P->R 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4065_1696_566_E->K 0.000199681 463 chr13:52534410:C:T 4065_1662_554_M->I 0.000399361 463 chr13:52534411:A:C 4065_1661_554_M->R 0.000199681 463 chr13:52534412:T:C 4065_1660_554_M->V 0.000399361 463 chr13:52535985:A:C 4065_1601_534_M->R 0.000199681 463 chr13:52535997:A:G 4065_1589_530_L->S 0.000399361 463 chr13:52536006:G:A 4065_1580_527_A->V 0.000199681 463 chr13:52536009:T:C 4065_1577_526_N->S 0.000199681 463 chr13:52536036:T:C 4065_1550_517_H->R 0.000599042 463 chr13:52539018:T:G 4065_1526_509_K->T 0.000199681 463 chr13:52539096:T:C 4065_1448_483_Y->C 0.000199681 463 chr13:52542621:T:C 4065_1333_445_M->V 0.000199681 463 chr13:52542666:C:T 4065_1288_430_E->K 0.000399361 463 chr13:52542671:G:A 4065_1283_428_P->L 0.000199681 463 chr13:52542680:A:G 4065_1274_425_V->A 0.00159744 463 chr13:52542732:C:T 4065_1222_408_V->M 0.000199681 463 chr13:52544648:C:G 4065_1190_397_R->T 0.000399361 463 chr13:52544745:C:T 4065_1093_365_A->T 0.000399361 463 chr13:52544796:C:A 4065_1042_348_V->L 0.000798722 463 chr13:52544805:C:G 4065_1033_345_V->L 0.376997 463 chr13:52544811:T:C 4065_1027_343_T->A 0.000199681 463 chr13:52544820:C:T 4065_1018_340_G->S 0.000399361 463 chr13:52544874:T:C 4065_964_322_T->A 0.000199681 463 chr13:52544880:A:G 4065_958_320_C->R 0.000599042 463 chr13:52548140:A:C 4065_883_295_S->A 0.376198 463 chr13:52548158:T:C 4065_865_289_T->A 0.000798722 463 chr13:52548200:C:T 4065_823_275_G->R 0.000199681 463 chr13:52548608:C:T 4065_748_250_G->R 0.000199681 463 chr13:52548662:G:A 4065_694_232_P->S 0.000199681 463 chr13:52548667:G:C 4065_689_230_T->S 0.000199681 463 chr13:52548692:T:C 4065_664_222_I->V 0.000199681 463 chr13:52548709:G:A 4065_647_216_P->L 0.000199681 463 chr13:52548728:T:C 4065_628_210_I->V 0.00239617 463 chr13:52548743:C:T 4065_613_205_G->R 0.000199681 463 chr13:52548859:C:T 4065_497_166_R->Q 0.000199681 463 chr13:52548874:A:G 4065_482_161_I->T 0.000199681 463 chr13:52548886:C:A 4065_470_157_C->F 0.000199681 463 chr13:52548913:C:T 4065_443_148_R->Q 0.000199681 463 chr13:52548914:G:A 4065_442_148_R->W 0.00219649 463 chr13:52548925:A:G 4065_431_144_V->A 0.000199681 463 chr13:52548950:T:C 4065_406_136_R->G 0.000599042 463 chr13:52549001:T:G 4065_355_119_M->L 0.000199681 463 chr13:52549119:C:A 4065_237_79_R->S 0.000199681 463 chr13:52549192:G:A 4065_164_55_S->F 0.000199681 463 chr13:52549235:T:C 4065_121_41_N->D 0.000199681 463 chr13:52549258:A:G 4065_98_33_M->T 0.000998403 463 na12878 Variants: 463 chr13:52523808:C:T 4065_2522_841_R->K 463 chr13:52524488:T:C 4065_2162_721_K->R 463 chr13:52515354:A:G 4065_3086_1029_V->A 463 chr13:52544805:C:G 4065_1033_345_V->L 463 chr13:52548140:A:C 4065_883_295_S->A 463 snyder Variants: 463 chr13:52523808:C:T 4065_2522_841_R->K 463 chr13:52524488:T:C 4065_2162_721_K->R 463 chr13:52515354:A:G 4065_3086_1029_V->A 463 chr13:52544805:C:G 4065_1033_345_V->L 463 chr13:52548140:A:C 4065_883_295_S->A 464 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000123191_ENST00000344297 gene_Name: ATP7B_HUMAN 464 list of pdbs: 464 2ROP pdb_description: 21-Oct-08 NMR 20 Solution structure of domains 3 and 4 of human atp7b 464 2LQB pdb_description: 03-Jul-13 NMR 20 Metal binding repeat 2 of the wilson disease protein (atp7b) 464 2KOY pdb_description: 15-Dec-10 NMR 20 Structure of the e1064a mutant of the n-domain of wilson dis associated protein 464 2EW9 pdb_description: 16-May-06 NMR 31 Solution structure of apowln5-6 464 2ARF pdb_description: 28-Feb-06 NMR 10 Solution structure of the wilson atpase n-domain in the presence of atp 464 Zimmer Variants: 464 chr13:52524488:T:C 3777_2009_670_K->R 464 chr13:52515354:A:G 3777_2798_933_V->A 464 chr13:52544805:C:G 3777_1366_456_V->L 464 chr13:52548140:A:C 3777_1216_406_S->A 464 HGMD Variants: 464 chr13:52509060:C:T 3777_3609_1203_W->* 464 chr13:52509739:G:A 3777_3493_1165_Q->* 464 chr13:52509795:C:T 3777_3437_1146_W->* 464 chr13:52509802:G:A 3777_3430_1144_Q->* 464 chr13:52511478:G:A 3777_3334_1112_R->* 464 chr13:52511686:G:A 3777_3208_1070_Q->* 464 chr13:52511743:T:A 3777_3151_1051_K->* 464 chr13:52513204:T:A 3777_3061_1021_R->* 464 chr13:52513288:G:A 3777_2977_993_Q->* 464 chr13:52515315:C:T 3777_2837_946_W->* 464 chr13:52515349:G:A 3777_2803_935_Q->* 464 chr13:52516575:A:T 3777_2738_913_L->* 464 chr13:52516671:A:T 3777_2642_881_L->* 464 chr13:52516690:C:A 3777_2623_875_E->* 464 chr13:52520593:G:A 3777_2266_756_Q->* 464 chr13:52524145:T:A 3777_2242_748_K->* 464 chr13:52524474:C:A 3777_2023_675_G->* 464 chr13:52524528:G:A 3777_1969_657_Q->* 464 chr13:52531671:C:A 3777_1942_648_E->* 464 chr13:52531733:G:C 3777_1880_627_S->* 464 chr13:52542648:G:A 3777_1639_547_Q->* 464 chr13:52542657:G:A 3777_1630_544_Q->* 464 chr13:52542719:A:T 3777_1568_523_L->* 464 chr13:52544640:G:A 3777_1531_511_Q->* 464 chr13:52544701:G:T 3777_1470_490_C->* 464 chr13:52544802:G:A 3777_1369_457_Q->* 464 chr13:52548122:C:A 3777_1234_412_E->* 464 chr13:52548170:C:A 3777_1186_396_E->* 464 chr13:52548194:G:A 3777_1162_388_Q->* 464 chr13:52548224:C:A 3777_1132_378_E->* 464 chr13:52548293:G:A 3777_1063_355_Q->* 464 chr13:52548362:C:A 3777_994_332_E->* 464 chr13:52548441:A:T 3777_915_305_C->* 464 chr13:52548453:A:T 3777_903_301_Y->* 464 chr13:52548491:G:A 3777_865_289_Q->* 464 chr13:52548500:G:A 3777_856_286_Q->* 464 chr13:52548543:G:T 3777_813_271_C->* 464 chr13:52548706:A:C 3777_650_217_L->* 464 chr13:52548779:G:A 3777_577_193_Q->* 464 chr13:52548794:G:A 3777_562_188_Q->* 464 chr13:52548795:A:T 3777_561_187_Y->* 464 chr13:52548893:G:A 3777_463_155_Q->* 464 chr13:52549013:G:A 3777_343_115_Q->* 464 chr13:52549025:G:A 3777_331_111_Q->* 464 chr13:52549028:G:A 3777_328_110_Q->* 464 chr13:52549042:G:T 3777_314_105_S->* 464 chr13:52549073:G:A 3777_283_95_Q->* 464 chr13:52549140:A:T 3777_216_72_C->* 464 chr13:52508957:C:G 3777_3712_1238_A->P 464 chr13:52508989:G:A 3777_3680_1227_T->M 464 chr13:52508995:G:A 3777_3674_1225_S->F 464 chr13:52508998:G:T 3777_3671_1224_S->Y 464 chr13:52509013:C:A 3777_3656_1219_S->I 464 chr13:52509115:A:T 3777_3554_1185_M->K 464 chr13:52509155:G:A 3777_3514_1172_P->S 464 chr13:52509729:C:G 3777_3503_1168_C->S 464 chr13:52509735:A:C 3777_3497_1166_L->R 464 chr13:52509735:A:G 3777_3497_1166_L->P 464 chr13:52509741:A:G 3777_3491_1164_L->P 464 chr13:52509747:G:A 3777_3485_1162_S->L 464 chr13:52509750:A:G 3777_3482_1161_L->P 464 chr13:52509765:G:A 3777_3467_1156_S->F 464 chr13:52509769:A:C 3777_3463_1155_S->A 464 chr13:52509776:C:G 3777_3456_1152_M->I 464 chr13:52509778:T:C 3777_3454_1152_M->V 464 chr13:52509781:C:A 3777_3451_1151_A->S 464 chr13:52509783:G:A 3777_3449_1150_A->V 464 chr13:52509789:C:T 3777_3443_1148_G->D 464 chr13:52509790:C:A 3777_3442_1148_G->C 464 chr13:52509790:C:T 3777_3442_1148_G->S 464 chr13:52509796:A:T 3777_3436_1146_W->R 464 chr13:52509798:G:C 3777_3434_1145_P->R 464 chr13:52509798:G:A 3777_3434_1145_P->L 464 chr13:52509799:G:A 3777_3433_1145_P->S 464 chr13:52509810:A:T 3777_3422_1141_I->N 464 chr13:52509814:C:T 3777_3418_1140_G->S 464 chr13:52509831:C:A 3777_3401_1134_G->V 464 chr13:52509831:C:T 3777_3401_1134_G->D 464 chr13:52511412:C:T 3777_3400_1134_G->S 464 chr13:52511412:C:G 3777_3400_1134_G->R 464 chr13:52511426:A:G 3777_3386_1129_I->T 464 chr13:52511430:C:G 3777_3382_1128_G->R 464 chr13:52511432:A:T 3777_3380_1127_V->D 464 chr13:52511437:G:T 3777_3375_1125_N->K 464 chr13:52511439:T:C 3777_3373_1125_N->D 464 chr13:52511441:T:C 3777_3371_1124_Y->C 464 chr13:52511441:T:G 3777_3371_1124_Y->S 464 chr13:52511447:A:G 3777_3365_1122_L->P 464 chr13:52511451:C:T 3777_3361_1121_A->T 464 chr13:52511454:G:C 3777_3358_1120_L->V 464 chr13:52511462:T:C 3777_3350_1117_N->S 464 chr13:52511468:C:G 3777_3344_1115_R->P 464 chr13:52511471:A:T 3777_3341_1114_I->K 464 chr13:52511473:C:G 3777_3339_1113_R->S 464 chr13:52511492:G:C 3777_3320_1107_S->C 464 chr13:52511495:A:G 3777_3317_1106_L->P 464 chr13:52511505:T:G 3777_3307_1103_S->R 464 chr13:52511507:G:A 3777_3305_1102_A->V 464 chr13:52511508:C:G 3777_3304_1102_A->P 464 chr13:52511519:A:G 3777_3293_1098_L->P 464 chr13:52511521:C:A 3777_3291_1097_L->F 464 chr13:52511620:G:A 3777_3274_1092_L->F 464 chr13:52511623:C:G 3777_3271_1091_V->L 464 chr13:52511623:C:T 3777_3271_1091_V->I 464 chr13:52511625:A:T 3777_3269_1090_V->D 464 chr13:52511626:C:T 3777_3268_1090_V->I 464 chr13:52511629:C:T 3777_3265_1089_D->N 464 chr13:52511631:G:T 3777_3263_1088_A->D 464 chr13:52511631:G:A 3777_3263_1088_A->V 464 chr13:52511638:C:T 3777_3256_1086_E->K 464 chr13:52511652:G:A 3777_3242_1081_T->M 464 chr13:52511652:G:C 3777_3242_1081_T->R 464 chr13:52511656:C:G 3777_3238_1080_G->R 464 chr13:52511656:C:T 3777_3238_1080_G->S 464 chr13:52511673:C:T 3777_3221_1074_G->D 464 chr13:52511674:C:A 3777_3220_1074_G->C 464 chr13:52511679:T:C 3777_3215_1072_D->G 464 chr13:52511680:C:A 3777_3214_1072_D->Y 464 chr13:52511682:G:C 3777_3212_1071_A->G 464 chr13:52511682:G:A 3777_3212_1071_A->V 464 chr13:52511683:C:T 3777_3211_1071_A->T 464 chr13:52511694:G:A 3777_3200_1067_A->V 464 chr13:52511695:C:T 3777_3199_1067_A->T 464 chr13:52511697:G:A 3777_3197_1066_P->L 464 chr13:52511697:G:T 3777_3197_1066_P->Q 464 chr13:52511698:G:A 3777_3196_1066_P->S 464 chr13:52511704:C:T 3777_3190_1064_D->N 464 chr13:52511706:T:G 3777_3188_1063_N->T 464 chr13:52511706:T:C 3777_3188_1063_N->S 464 chr13:52511713:C:T 3777_3181_1061_G->R 464 chr13:52511715:T:G 3777_3179_1060_D->A 464 chr13:52511715:T:A 3777_3179_1060_D->V 464 chr13:52511716:C:T 3777_3178_1060_D->N 464 chr13:52511718:C:T 3777_3176_1059_G->E 464 chr13:52511718:C:A 3777_3176_1059_G->V 464 chr13:52511719:C:T 3777_3175_1059_G->R 464 chr13:52511719:C:A 3777_3175_1059_G->W 464 chr13:52511719:C:G 3777_3175_1059_G->R 464 chr13:52511731:C:A 3777_3163_1055_V->F 464 chr13:52511748:T:C 3777_3146_1049_Q->R 464 chr13:52511752:G:T 3777_3142_1048_L->I 464 chr13:52511761:C:T 3777_3133_1045_V->I 464 chr13:52511766:G:C 3777_3128_1043_A->G 464 chr13:52511771:C:G 3777_3123_1041_K->N 464 chr13:52511774:G:C 3777_3120_1040_H->Q 464 chr13:52511782:G:T 3777_3112_1038_P->T 464 chr13:52511793:G:A 3777_3101_1034_A->V 464 chr13:52511799:A:C 3777_3095_1032_V->G 464 chr13:52511808:A:G 3777_3086_1029_I->T 464 chr13:52511815:C:A 3777_3079_1027_V->F 464 chr13:52513188:T:G 3777_3077_1026_Q->P 464 chr13:52513192:T:G 3777_3073_1025_T->P 464 chr13:52513198:T:C 3777_3067_1023_I->V 464 chr13:52513203:C:G 3777_3062_1021_R->T 464 chr13:52513221:T:A 3777_3044_1015_D->V 464 chr13:52513222:C:T 3777_3043_1015_D->N 464 chr13:52513222:C:A 3777_3043_1015_D->Y 464 chr13:52513224:C:T 3777_3041_1014_G->E 464 chr13:52513227:G:A 3777_3038_1013_T->M 464 chr13:52513240:C:T 3777_3025_1009_V->M 464 chr13:52513242:T:C 3777_3023_1008_D->G 464 chr13:52513243:C:A 3777_3022_1008_D->Y 464 chr13:52513248:C:A 3777_3017_1006_G->V 464 chr13:52513266:T:C 3777_2999_1000_H->R 464 chr13:52513281:G:C 3777_2984_995_A->G 464 chr13:52513287:T:G 3777_2978_993_Q->P 464 chr13:52513297:C:T 3777_2968_990_A->T 464 chr13:52513309:C:G 3777_2956_986_A->P 464 chr13:52515217:C:A 3777_2935_979_G->C 464 chr13:52515217:C:G 3777_2935_979_G->R 464 chr13:52515217:C:T 3777_2935_979_G->S 464 chr13:52515217:C:T 3777_2935_979_G->S 464 chr13:52515222:A:G 3777_2930_977_I->T 464 chr13:52515225:G:C 3777_2927_976_A->G 464 chr13:52515226:C:T 3777_2926_976_A->T 464 chr13:52515231:A:G 3777_2921_974_L->P 464 chr13:52515241:T:C 3777_2911_971_T->A 464 chr13:52515246:C:T 3777_2906_969_G->E 464 chr13:52515247:C:T 3777_2905_969_G->R 464 chr13:52515255:T:C 3777_2897_966_E->G 464 chr13:52515256:C:T 3777_2896_966_E->K 464 chr13:52515267:A:G 3777_2885_962_M->T 464 chr13:52515268:T:C 3777_2884_962_M->V 464 chr13:52515271:C:A 3777_2881_961_A->S 464 chr13:52515271:C:G 3777_2881_961_A->P 464 chr13:52515283:C:T 3777_2869_957_D->N 464 chr13:52515300:C:A 3777_2852_951_G->V 464 chr13:52515306:C:T 3777_2846_949_R->H 464 chr13:52515312:A:G 3777_2840_947_L->P 464 chr13:52515314:C:A 3777_2838_946_W->C 464 chr13:52515316:A:G 3777_2836_946_W->R 464 chr13:52515321:C:T 3777_2831_944_R->H 464 chr13:52515322:G:A 3777_2830_944_R->C 464 chr13:52515327:C:T 3777_2825_942_G->E 464 chr13:52515327:C:G 3777_2825_942_G->A 464 chr13:52515330:A:G 3777_2822_941_I->T 464 chr13:52515337:C:T 3777_2815_939_V->M 464 chr13:52515347:C:G 3777_2805_935_Q->H 464 chr13:52515354:A:G 3777_2798_933_V->A 464 chr13:52516528:C:T 3777_2785_929_E->K 464 chr13:52516602:C:G 3777_2711_904_G->A 464 chr13:52516602:C:T 3777_2711_904_G->D 464 chr13:52516617:A:T 3777_2696_899_V->D 464 chr13:52516618:C:T 3777_2695_899_V->I 464 chr13:52516618:C:G 3777_2695_899_V->L 464 chr13:52516623:C:A 3777_2690_897_C->F 464 chr13:52516623:C:T 3777_2690_897_C->Y 464 chr13:52516624:A:G 3777_2689_897_C->R 464 chr13:52516629:A:G 3777_2684_895_I->T 464 chr13:52516633:C:T 3777_2680_894_G->R 464 chr13:52516639:C:T 3777_2674_892_G->S 464 chr13:52516641:G:C 3777_2672_891_P->R 464 chr13:52516650:T:G 3777_2663_888_Q->P 464 chr13:52516652:G:C 3777_2661_887_F->L 464 chr13:52516662:C:T 3777_2651_884_C->Y 464 chr13:52516668:C:A 3777_2645_882_G->V 464 chr13:52516668:C:T 3777_2645_882_G->E 464 chr13:52516687:G:A 3777_2626_876_L->F 464 chr13:52518252:C:A 3777_2615_872_C->F 464 chr13:52518267:G:A 3777_2600_867_A->V 464 chr13:52518280:G:A 3777_2587_863_P->S 464 chr13:52518281:G:T 3777_2586_862_H->Q 464 chr13:52518283:G:T 3777_2584_862_H->N 464 chr13:52518283:G:A 3777_2584_862_H->Y 464 chr13:52518285:T:C 3777_2582_861_E->G 464 chr13:52518288:C:T 3777_2579_860_S->N 464 chr13:52518295:C:G 3777_2572_858_A->P 464 chr13:52518297:T:G 3777_2570_857_E->A 464 chr13:52518298:C:T 3777_2569_857_E->K 464 chr13:52518300:G:A 3777_2567_856_A->V 464 chr13:52518306:C:T 3777_2561_854_G->E 464 chr13:52518315:G:A 3777_2552_851_A->V 464 chr13:52518318:A:G 3777_2549_850_L->P 464 chr13:52518333:G:A 3777_2534_845_P->L 464 chr13:52518348:T:A 3777_2519_840_D->V 464 chr13:52518360:A:G 3777_2507_836_L->P 464 chr13:52518366:C:G 3777_2501_834_R->P 464 chr13:52518367:G:A 3777_2500_834_R->W 464 chr13:52518375:C:T 3777_2492_831_R->K 464 chr13:52518382:C:T 3777_2485_829_V->I 464 chr13:52518384:C:A 3777_2483_828_G->V 464 chr13:52518387:T:G 3777_2480_827_H->P 464 chr13:52518390:G:C 3777_2477_826_T->S 464 chr13:52518391:T:C 3777_2476_826_T->A 464 chr13:52518397:T:C 3777_2470_824_T->A 464 chr13:52518397:T:A 3777_2470_824_T->S 464 chr13:52518399:C:T 3777_2468_823_G->D 464 chr13:52518402:G:A 3777_2465_822_T->I 464 chr13:52518414:A:T 3777_2453_818_M->K 464 chr13:52518414:A:C 3777_2453_818_M->R 464 chr13:52518417:A:G 3777_2450_817_V->A 464 chr13:52518426:A:T 3777_2441_814_I->K 464 chr13:52518427:T:C 3777_2440_814_I->V 464 chr13:52520421:T:C 3777_2438_813_K->R 464 chr13:52520427:G:A 3777_2432_811_A->V 464 chr13:52520429:C:T 3777_2430_810_M->I 464 chr13:52520439:G:A 3777_2420_807_P->L 464 chr13:52520445:C:A 3777_2414_805_G->V 464 chr13:52520446:C:G 3777_2413_805_G->R 464 chr13:52520451:T:C 3777_2408_803_K->R 464 chr13:52520451:T:G 3777_2408_803_K->T 464 chr13:52520469:T:G 3777_2390_797_Q->P 464 chr13:52520472:G:A 3777_2387_796_A->V 464 chr13:52520473:C:T 3777_2386_796_A->T 464 chr13:52520482:C:T 3777_2377_793_G->R 464 chr13:52520487:C:T 3777_2372_791_G->D 464 chr13:52520493:A:G 3777_2366_789_M->T 464 chr13:52520496:A:G 3777_2363_788_V->A 464 chr13:52520500:C:A 3777_2359_787_A->S 464 chr13:52520502:G:A 3777_2357_786_T->M 464 chr13:52520505:G:A 3777_2354_785_P->L 464 chr13:52520505:G:T 3777_2354_785_P->H 464 chr13:52520508:G:A 3777_2351_784_T->M 464 chr13:52520512:C:G 3777_2347_783_A->P 464 chr13:52520517:C:A 3777_2342_781_G->V 464 chr13:52520517:C:T 3777_2342_781_G->E 464 chr13:52520518:C:T 3777_2341_781_G->R 464 chr13:52520518:C:G 3777_2341_781_G->R 464 chr13:52520520:A:G 3777_2339_780_L->P 464 chr13:52520523:G:A 3777_2336_779_S->F 464 chr13:52520526:C:T 3777_2333_778_C->Y 464 chr13:52520535:G:A 3777_2324_775_A->V 464 chr13:52520536:C:T 3777_2323_775_A->T 464 chr13:52520541:C:T 3777_2318_773_C->Y 464 chr13:52520542:A:G 3777_2317_773_C->R 464 chr13:52520544:A:T 3777_2315_772_L->Q 464 chr13:52520548:C:T 3777_2311_771_V->M 464 chr13:52520550:G:A 3777_2309_770_T->M 464 chr13:52520550:G:C 3777_2309_770_T->R 464 chr13:52520556:G:T 3777_2303_768_S->Y 464 chr13:52520559:G:A 3777_2300_767_T->M 464 chr13:52520568:G:A 3777_2291_764_A->V 464 chr13:52520574:C:T 3777_2285_762_R->Q 464 chr13:52520575:G:A 3777_2284_762_R->W 464 chr13:52520581:T:A 3777_2278_760_I->F 464 chr13:52524178:T:A 3777_2209_737_I->F 464 chr13:52524180:T:C 3777_2207_736_Q->R 464 chr13:52524201:C:T 3777_2186_729_G->D 464 chr13:52524201:C:A 3777_2186_729_G->V 464 chr13:52524205:C:T 3777_2182_728_V->M 464 chr13:52524211:T:G 3777_2176_726_T->P 464 chr13:52524239:A:C 3777_2148_716_N->K 464 chr13:52524246:G:A 3777_2141_714_S->F 464 chr13:52524249:C:A 3777_2138_713_G->V 464 chr13:52524250:C:T 3777_2137_713_G->R 464 chr13:52524252:G:A 3777_2135_712_A->V 464 chr13:52524253:C:G 3777_2134_712_A->P 464 chr13:52524267:C:A 3777_2120_707_G->V 464 chr13:52524268:C:T 3777_2119_707_G->R 464 chr13:52524282:A:C 3777_2105_702_V->G 464 chr13:52524292:C:T 3777_2095_699_A->T 464 chr13:52524294:T:C 3777_2093_698_E->G 464 chr13:52524411:T:C 3777_2086_696_T->A 464 chr13:52524413:A:G 3777_2084_695_I->T 464 chr13:52524416:A:C 3777_2081_694_L->R 464 chr13:52524419:G:A 3777_2078_693_S->F 464 chr13:52524419:G:T 3777_2078_693_S->Y 464 chr13:52524434:G:A 3777_2063_688_T->I 464 chr13:52524456:C:T 3777_2041_681_G->R 464 chr13:52524459:C:A 3777_2038_680_D->Y 464 chr13:52524459:C:T 3777_2038_680_D->N 464 chr13:52524464:G:A 3777_2033_678_P->L 464 chr13:52524476:C:T 3777_2021_674_G->E 464 chr13:52524488:T:C 3777_2009_670_K->R 464 chr13:52524503:C:A 3777_1994_665_R->L 464 chr13:52524503:C:G 3777_1994_665_R->P 464 chr13:52524504:G:A 3777_1993_665_R->W 464 chr13:52524535:C:A 3777_1962_654_R->S 464 chr13:52531692:C:T 3777_1921_641_A->T 464 chr13:52531715:A:C 3777_1898_633_L->R 464 chr13:52531716:G:A 3777_1897_633_L->F 464 chr13:52531736:G:A 3777_1877_626_T->I 464 chr13:52539030:C:T 3777_1847_616_R->Q 464 chr13:52539031:G:A 3777_1846_616_R->W 464 chr13:52539037:C:A 3777_1840_614_G->C 464 chr13:52539046:C:T 3777_1831_611_E->K 464 chr13:52539060:A:C 3777_1817_606_V->G 464 chr13:52539067:C:G 3777_1810_604_A->P 464 chr13:52539088:C:T 3777_1789_597_V->I 464 chr13:52539094:C:T 3777_1783_595_A->T 464 chr13:52539105:C:T 3777_1772_591_G->D 464 chr13:52539106:C:T 3777_1771_591_G->S 464 chr13:52542629:G:T 3777_1658_553_A->E 464 chr13:52542641:A:G 3777_1646_549_L->P 464 chr13:52542666:C:T 3777_1621_541_E->K 464 chr13:52542671:G:A 3777_1616_539_P->L 464 chr13:52542680:A:G 3777_1607_536_V->A 464 chr13:52542692:T:C 3777_1595_532_Y->C 464 chr13:52542693:A:G 3777_1594_532_Y->H 464 chr13:52542701:T:C 3777_1586_529_E->G 464 chr13:52542743:C:T 3777_1544_515_G->D 464 chr13:52542743:C:A 3777_1544_515_G->V 464 chr13:52544679:T:A 3777_1492_498_T->S 464 chr13:52544696:A:G 3777_1475_492_L->S 464 chr13:52544715:C:A 3777_1456_486_A->S 464 chr13:52544805:C:G 3777_1366_456_V->L 464 chr13:52544865:G:C 3777_1306_436_L->V 464 chr13:52548101:C:T 3777_1255_419_D->N 464 chr13:52548104:C:T 3777_1252_418_E->K 464 chr13:52548127:G:A 3777_1229_410_P->L 464 chr13:52548140:A:C 3777_1216_406_S->A 464 chr13:52548161:C:G 3777_1195_399_A->P 464 chr13:52548170:C:G 3777_1186_396_E->Q 464 chr13:52548211:G:C 3777_1145_382_S->C 464 chr13:52548214:A:C 3777_1142_381_I->S 464 chr13:52548359:C:T 3777_997_333_G->R 464 chr13:52548371:C:G 3777_985_329_D->H 464 chr13:52548768:G:T 3777_588_196_D->E 464 chr13:52548847:C:A 3777_509_170_G->V 464 chr13:52548886:C:A 3777_470_157_C->F 464 chr13:52548914:G:A 3777_442_148_R->W 464 chr13:52548923:C:A 3777_433_145_V->F 464 chr13:52548950:T:C 3777_406_136_R->G 464 chr13:52548950:T:A 3777_406_136_R->W 464 chr13:52549009:A:G 3777_347_116_I->T 464 chr13:52549034:A:G 3777_322_108_C->R 464 chr13:52549069:C:T 3777_287_96_G->D 464 chr13:52549102:C:A 3777_254_85_G->V 464 chr13:52549157:T:C 3777_199_67_M->V 464 chr13:52549226:A:T 3777_130_44_Y->N 464 chr13:52549234:T:C 3777_122_41_N->S 464 chr13:52585431:T:C 3777_43_15_S->G 464 oneKG Variants: 464 chr13:52548543:G:T 3777_813_271_C->* 0.000399361 464 chr13:52508902:T:G 3777_3767_1256_Q->P 0.000399361 464 chr13:52508956:G:A 3777_3713_1238_A->V 0.000199681 464 chr13:52508971:C:A 3777_3698_1233_R->L 0.000199681 464 chr13:52508972:G:A 3777_3697_1233_R->W 0.000399361 464 chr13:52508984:C:T 3777_3685_1229_D->N 0.000399361 464 chr13:52508989:G:A 3777_3680_1227_T->M 0.00239617 464 chr13:52509029:G:C 3777_3640_1214_Q->E 0.000199681 464 chr13:52509059:G:A 3777_3610_1204_R->W 0.000199681 464 chr13:52509077:C:T 3777_3592_1198_G->S 0.000199681 464 chr13:52509115:A:C 3777_3554_1185_M->R 0.000199681 464 chr13:52509155:G:A 3777_3514_1172_P->S 0.00119808 464 chr13:52511469:G:A 3777_3343_1115_R->C 0.000199681 464 chr13:52511474:C:T 3777_3338_1113_R->K 0.000199681 464 chr13:52511626:C:T 3777_3268_1090_V->I 0.00339457 464 chr13:52511629:C:T 3777_3265_1089_D->N 0.000199681 464 chr13:52513192:T:G 3777_3073_1025_T->P 0.000199681 464 chr13:52513198:T:C 3777_3067_1023_I->V 0.000199681 464 chr13:52513263:G:T 3777_3002_1001_T->K 0.000199681 464 chr13:52513266:T:C 3777_2999_1000_H->R 0.0315495 464 chr13:52515354:A:G 3777_2798_933_V->A 0.459465 464 chr13:52515357:G:C 3777_2795_932_A->G 0.000199681 464 chr13:52516531:C:T 3777_2782_928_A->T 0.00199681 464 chr13:52516581:C:T 3777_2732_911_R->H 0.000199681 464 chr13:52516582:G:A 3777_2731_911_R->C 0.000199681 464 chr13:52516602:C:T 3777_2711_904_G->D 0.000199681 464 chr13:52516618:C:T 3777_2695_899_V->I 0.000399361 464 chr13:52516629:A:G 3777_2684_895_I->T 0.000199681 464 chr13:52518271:C:T 3777_2596_866_V->M 0.000199681 464 chr13:52518281:G:T 3777_2586_862_H->Q 0.000199681 464 chr13:52518347:A:T 3777_2520_840_D->E 0.000199681 464 chr13:52518387:T:C 3777_2480_827_H->R 0.00339457 464 chr13:52520473:C:T 3777_2386_796_A->T 0.000199681 464 chr13:52520508:G:A 3777_2351_784_T->M 0.000199681 464 chr13:52520542:A:C 3777_2317_773_C->G 0.000199681 464 chr13:52524246:G:C 3777_2141_714_S->C 0.000199681 464 chr13:52524268:C:T 3777_2119_707_G->R 0.000998403 464 chr13:52524488:T:C 3777_2009_670_K->R 0.497604 464 chr13:52524498:C:T 3777_1999_667_D->N 0.000199681 464 chr13:52524504:G:A 3777_1993_665_R->W 0.000399361 464 chr13:52531736:G:A 3777_1877_626_T->I 0.000199681 464 chr13:52539018:T:G 3777_1859_620_K->T 0.000199681 464 chr13:52539096:T:C 3777_1781_594_Y->C 0.000199681 464 chr13:52542621:T:C 3777_1666_556_M->V 0.000199681 464 chr13:52542666:C:T 3777_1621_541_E->K 0.000399361 464 chr13:52542671:G:A 3777_1616_539_P->L 0.000199681 464 chr13:52542680:A:G 3777_1607_536_V->A 0.00159744 464 chr13:52542732:C:T 3777_1555_519_V->M 0.000199681 464 chr13:52544648:C:G 3777_1523_508_R->T 0.000399361 464 chr13:52544745:C:T 3777_1426_476_A->T 0.000399361 464 chr13:52544796:C:A 3777_1375_459_V->L 0.000798722 464 chr13:52544805:C:G 3777_1366_456_V->L 0.376997 464 chr13:52544811:T:C 3777_1360_454_T->A 0.000199681 464 chr13:52544820:C:T 3777_1351_451_G->S 0.000399361 464 chr13:52544874:T:C 3777_1297_433_T->A 0.000199681 464 chr13:52544880:A:G 3777_1291_431_C->R 0.000599042 464 chr13:52548140:A:C 3777_1216_406_S->A 0.376198 464 chr13:52548158:T:C 3777_1198_400_T->A 0.000798722 464 chr13:52548200:C:T 3777_1156_386_G->R 0.000199681 464 chr13:52548272:G:C 3777_1084_362_L->V 0.000199681 464 chr13:52548298:T:C 3777_1058_353_Q->R 0.000199681 464 chr13:52548301:T:G 3777_1055_352_N->T 0.000199681 464 chr13:52548307:G:A 3777_1049_350_P->L 0.000199681 464 chr13:52548320:G:A 3777_1036_346_P->S 0.000199681 464 chr13:52548359:C:T 3777_997_333_G->R 0.000199681 464 chr13:52548400:G:A 3777_956_319_P->L 0.000199681 464 chr13:52548431:C:G 3777_925_309_V->L 0.000199681 464 chr13:52548445:G:A 3777_911_304_S->F 0.000199681 464 chr13:52548461:C:T 3777_895_299_V->I 0.000199681 464 chr13:52548467:C:T 3777_889_297_A->T 0.000199681 464 chr13:52548608:C:T 3777_748_250_G->R 0.000199681 464 chr13:52548662:G:A 3777_694_232_P->S 0.000199681 464 chr13:52548667:G:C 3777_689_230_T->S 0.000199681 464 chr13:52548692:T:C 3777_664_222_I->V 0.000199681 464 chr13:52548709:G:A 3777_647_216_P->L 0.000199681 464 chr13:52548728:T:C 3777_628_210_I->V 0.00239617 464 chr13:52548743:C:T 3777_613_205_G->R 0.000199681 464 chr13:52548859:C:T 3777_497_166_R->Q 0.000199681 464 chr13:52548874:A:G 3777_482_161_I->T 0.000199681 464 chr13:52548886:C:A 3777_470_157_C->F 0.000199681 464 chr13:52548913:C:T 3777_443_148_R->Q 0.000199681 464 chr13:52548914:G:A 3777_442_148_R->W 0.00219649 464 chr13:52548925:A:G 3777_431_144_V->A 0.000199681 464 chr13:52548950:T:C 3777_406_136_R->G 0.000599042 464 chr13:52549001:T:G 3777_355_119_M->L 0.000199681 464 chr13:52549119:C:A 3777_237_79_R->S 0.000199681 464 chr13:52549192:G:A 3777_164_55_S->F 0.000199681 464 chr13:52549235:T:C 3777_121_41_N->D 0.000199681 464 chr13:52549258:A:G 3777_98_33_M->T 0.000998403 464 na12878 Variants: 464 chr13:52524488:T:C 3777_2009_670_K->R 464 chr13:52515354:A:G 3777_2798_933_V->A 464 chr13:52544805:C:G 3777_1366_456_V->L 464 chr13:52548140:A:C 3777_1216_406_S->A 464 snyder Variants: 464 chr13:52524488:T:C 3777_2009_670_K->R 464 chr13:52515354:A:G 3777_2798_933_V->A 464 chr13:52544805:C:G 3777_1366_456_V->L 464 chr13:52548140:A:C 3777_1216_406_S->A 465 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100823_ENST00000555414 gene_Name: APEX1_HUMAN 465 list of pdbs: 465 4IEM pdb_description: 23-Jan-13 X-ray 2.390 Human apurinic/apyrimidinic endonuclease (ape1) with product mg2+ 465 3U8U pdb_description: 26-Oct-11 X-ray 2.150 Crystal structure of human apurinic/apyridinimic endonucleas a new crystal form 465 2O3H pdb_description: 11-Dec-07 X-ray 1.900 Crystal structure of the human c65a ape 465 2ISI pdb_description: 31-Oct-06 X-ray 2.760 Crystal structure of ape1 from homo sapiens in a new crystal form complexed with a ligand 465 1HD7 pdb_description: 16-Feb-01 X-ray 1.950 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyridinimic endonuclease, ape1, and its implications for the catalytic mechanism 465 1E9N pdb_description: 16-Feb-01 X-ray 2.200 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyrimidinic endonuclease, ape1, and its implications for the catalytic mechanism 465 1DEW pdb_description: 02-Feb-00 X-ray 2.650 Crystal structure of human ape1 bound to abasic DNA 465 1DE9 pdb_description: 02-Feb-00 X-ray 3.000 Human ape1 endonuclease with bound abasic DNA and mn2+ ion 465 1DE8 pdb_description: 02-Feb-00 X-ray 2.950 Human apurinic/apyrimidinic endonuclease-1 (ape1) bound to abasic DNA 465 1CQH pdb_description: 01-Aug-96 NMR 1 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, minimized average structure 465 1CQG pdb_description: 01-Aug-96 NMR 35 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, 31 structures 465 1BIX pdb_description: 22-Jun-99 X-ray 2.200 The crystal structure of the human DNA repair endonuclease hap1 suggests the recognition of extra-helical deoxyribose at DNA abasic sites 465 Zimmer Variants: 465 chr14:20925154:T:G 957_444_148_D->E;HUB=PPI®GENE=APEX1;CANG=[DNA_repair];CDSS=2 465 HGMD Variants: 465 chr14:20924167:G:C 957_153_51_Q->H 465 chr14:20924891:T:G 957_311_104_L->R 465 chr14:20924958:A:C 957_378_126_E->D 465 chr14:20924967:T:G 957_387_129_S->R 465 chr14:20924972:T:G 957_392_131_V->G 465 chr14:20925154:T:G 957_444_148_D->E 465 chr14:20925558:A:G 957_848_283_D->G 465 chr14:20925627:G:C 957_917_306_G->A 465 oneKG Variants: 465 chr14:20924899:G:T 957_319_107_E->* 0.000199681 465 chr14:20923826:G:A 957_22_8_G->R 0.000199681 465 chr14:20924076:C:T 957_62_21_P->L,1 0.000199681 465 chr14:20924092:T:G 957_78_26_S->R,1 0.000199681 465 chr14:20924117:A:C 957_103_35_K->Q 0.000199681 465 chr14:20924142:C:T 957_128_43_A->V 0.000199681 465 chr14:20924167:G:C 957_153_51_Q->H 0.00958466 465 chr14:20924193:C:T 957_179_60_A->V 0.000199681 465 chr14:20924204:A:G 957_190_64_I->V 0.0119808 465 chr14:20924258:G:T 957_244_82_D->Y 0.000199681 465 chr14:20924909:A:G 957_329_110_E->G 0.000199681 465 chr14:20924939:C:T 957_359_120_S->L 0.000199681 465 chr14:20924941:G:T 957_361_121_A->S 0.000199681 465 chr14:20925154:T:G 957_444_148_D->E 0.375599 465 chr14:20925159:A:G 957_449_150_E->G 0.000399361 465 chr14:20925199:C:G 957_489_163_D->E 0.000199681 465 chr14:20925276:A:G 957_566_189_D->G 0.000199681 465 chr14:20925293:T:A 957_583_195_F->I 0.000199681 465 chr14:20925426:G:A 957_716_239_G->D 0.000199681 465 chr14:20925431:G:A 957_721_241_G->R 0.00878594 465 chr14:20925603:G:A 957_893_298_S->N 0.000399361 465 na12878 Variants: 465 chr14:20925154:T:G 957_444_148_D->E 465 snyder Variants: 465 chr14:20925154:T:G 957_444_148_D->E 466 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100823_ENST00000216714 gene_Name: APEX1_HUMAN 466 list of pdbs: 466 4IEM pdb_description: 23-Jan-13 X-ray 2.390 Human apurinic/apyrimidinic endonuclease (ape1) with product mg2+ 466 3U8U pdb_description: 26-Oct-11 X-ray 2.150 Crystal structure of human apurinic/apyridinimic endonucleas a new crystal form 466 2O3H pdb_description: 11-Dec-07 X-ray 1.900 Crystal structure of the human c65a ape 466 2ISI pdb_description: 31-Oct-06 X-ray 2.760 Crystal structure of ape1 from homo sapiens in a new crystal form complexed with a ligand 466 1HD7 pdb_description: 16-Feb-01 X-ray 1.950 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyridinimic endonuclease, ape1, and its implications for the catalytic mechanism 466 1E9N pdb_description: 16-Feb-01 X-ray 2.200 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyrimidinic endonuclease, ape1, and its implications for the catalytic mechanism 466 1DEW pdb_description: 02-Feb-00 X-ray 2.650 Crystal structure of human ape1 bound to abasic DNA 466 1DE9 pdb_description: 02-Feb-00 X-ray 3.000 Human ape1 endonuclease with bound abasic DNA and mn2+ ion 466 1DE8 pdb_description: 02-Feb-00 X-ray 2.950 Human apurinic/apyrimidinic endonuclease-1 (ape1) bound to abasic DNA 466 1CQH pdb_description: 01-Aug-96 NMR 1 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, minimized average structure 466 1CQG pdb_description: 01-Aug-96 NMR 35 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, 31 structures 466 1BIX pdb_description: 22-Jun-99 X-ray 2.200 The crystal structure of the human DNA repair endonuclease hap1 suggests the recognition of extra-helical deoxyribose at DNA abasic sites 466 Zimmer Variants: 466 chr14:20925154:T:G 957_444_148_D->E 466 HGMD Variants: 466 chr14:20924167:G:C 957_153_51_Q->H 466 chr14:20924891:T:G 957_311_104_L->R 466 chr14:20924958:A:C 957_378_126_E->D 466 chr14:20924967:T:G 957_387_129_S->R 466 chr14:20924972:T:G 957_392_131_V->G 466 chr14:20925154:T:G 957_444_148_D->E 466 chr14:20925558:A:G 957_848_283_D->G 466 chr14:20925627:G:C 957_917_306_G->A 466 oneKG Variants: 466 chr14:20924899:G:T 957_319_107_E->* 0.000199681 466 chr14:20923826:G:A 957_22_8_G->R 0.000199681 466 chr14:20924076:C:T 957_62_21_P->L 0.000199681 466 chr14:20924092:T:G 957_78_26_S->R 0.000199681 466 chr14:20924117:A:C 957_103_35_K->Q 0.000199681 466 chr14:20924142:C:T 957_128_43_A->V 0.000199681 466 chr14:20924167:G:C 957_153_51_Q->H 0.00958466 466 chr14:20924193:C:T 957_179_60_A->V 0.000199681 466 chr14:20924204:A:G 957_190_64_I->V 0.0119808 466 chr14:20924258:G:T 957_244_82_D->Y 0.000199681 466 chr14:20924909:A:G 957_329_110_E->G 0.000199681 466 chr14:20924939:C:T 957_359_120_S->L 0.000199681 466 chr14:20924941:G:T 957_361_121_A->S 0.000199681 466 chr14:20925154:T:G 957_444_148_D->E 0.375599 466 chr14:20925159:A:G 957_449_150_E->G 0.000399361 466 chr14:20925199:C:G 957_489_163_D->E 0.000199681 466 chr14:20925276:A:G 957_566_189_D->G 0.000199681 466 chr14:20925293:T:A 957_583_195_F->I 0.000199681 466 chr14:20925426:G:A 957_716_239_G->D 0.000199681 466 chr14:20925431:G:A 957_721_241_G->R 0.00878594 466 chr14:20925603:G:A 957_893_298_S->N 0.000399361 466 na12878 Variants: 466 chr14:20925154:T:G 957_444_148_D->E 466 snyder Variants: 466 chr14:20925154:T:G 957_444_148_D->E 467 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100823_ENST00000398030 gene_Name: APEX1_HUMAN 467 list of pdbs: 467 4IEM pdb_description: 23-Jan-13 X-ray 2.390 Human apurinic/apyrimidinic endonuclease (ape1) with product mg2+ 467 3U8U pdb_description: 26-Oct-11 X-ray 2.150 Crystal structure of human apurinic/apyridinimic endonucleas a new crystal form 467 2O3H pdb_description: 11-Dec-07 X-ray 1.900 Crystal structure of the human c65a ape 467 2ISI pdb_description: 31-Oct-06 X-ray 2.760 Crystal structure of ape1 from homo sapiens in a new crystal form complexed with a ligand 467 1HD7 pdb_description: 16-Feb-01 X-ray 1.950 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyridinimic endonuclease, ape1, and its implications for the catalytic mechanism 467 1E9N pdb_description: 16-Feb-01 X-ray 2.200 A second divalent metal ion in the active site of a new crystal form of human apurinic/apyrimidinic endonuclease, ape1, and its implications for the catalytic mechanism 467 1DEW pdb_description: 02-Feb-00 X-ray 2.650 Crystal structure of human ape1 bound to abasic DNA 467 1DE9 pdb_description: 02-Feb-00 X-ray 3.000 Human ape1 endonuclease with bound abasic DNA and mn2+ ion 467 1DE8 pdb_description: 02-Feb-00 X-ray 2.950 Human apurinic/apyrimidinic endonuclease-1 (ape1) bound to abasic DNA 467 1CQH pdb_description: 01-Aug-96 NMR 1 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, minimized average structure 467 1CQG pdb_description: 01-Aug-96 NMR 35 High resolution solution nmr structure of mixed disulfide intermediate between human thioredoxin (c35a, c62a, c69a, c73a) mutant and a 13 residue peptide comprising its target site in human ref-1 (residues 59-71 of the p50 subunit of nfkb), nmr, 31 structures 467 1BIX pdb_description: 22-Jun-99 X-ray 2.200 The crystal structure of the human DNA repair endonuclease hap1 suggests the recognition of extra-helical deoxyribose at DNA abasic sites 467 Zimmer Variants: 467 chr14:20925154:T:G 957_444_148_D->E 467 HGMD Variants: 467 chr14:20924167:G:C 957_153_51_Q->H 467 chr14:20924891:T:G 957_311_104_L->R 467 chr14:20924958:A:C 957_378_126_E->D 467 chr14:20924967:T:G 957_387_129_S->R 467 chr14:20924972:T:G 957_392_131_V->G 467 chr14:20925154:T:G 957_444_148_D->E 467 chr14:20925558:A:G 957_848_283_D->G 467 chr14:20925627:G:C 957_917_306_G->A 467 oneKG Variants: 467 chr14:20924899:G:T 957_319_107_E->* 0.000199681 467 chr14:20923826:G:A 957_22_8_G->R 0.000199681 467 chr14:20924076:C:T 957_62_21_P->L 0.000199681 467 chr14:20924092:T:G 957_78_26_S->R 0.000199681 467 chr14:20924117:A:C 957_103_35_K->Q 0.000199681 467 chr14:20924142:C:T 957_128_43_A->V 0.000199681 467 chr14:20924167:G:C 957_153_51_Q->H 0.00958466 467 chr14:20924193:C:T 957_179_60_A->V 0.000199681 467 chr14:20924204:A:G 957_190_64_I->V 0.0119808 467 chr14:20924258:G:T 957_244_82_D->Y 0.000199681 467 chr14:20924909:A:G 957_329_110_E->G 0.000199681 467 chr14:20924939:C:T 957_359_120_S->L 0.000199681 467 chr14:20924941:G:T 957_361_121_A->S 0.000199681 467 chr14:20925154:T:G 957_444_148_D->E 0.375599 467 chr14:20925159:A:G 957_449_150_E->G 0.000399361 467 chr14:20925199:C:G 957_489_163_D->E 0.000199681 467 chr14:20925276:A:G 957_566_189_D->G 0.000199681 467 chr14:20925293:T:A 957_583_195_F->I 0.000199681 467 chr14:20925426:G:A 957_716_239_G->D 0.000199681 467 chr14:20925431:G:A 957_721_241_G->R 0.00878594 467 chr14:20925603:G:A 957_893_298_S->N 0.000399361 467 na12878 Variants: 467 chr14:20925154:T:G 957_444_148_D->E 467 snyder Variants: 467 chr14:20925154:T:G 957_444_148_D->E 468 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157227_ENST00000311852 gene_Name: MMP14_HUMAN 468 list of pdbs: 468 3MA2 pdb_description: 30-Jun-10 X-ray 2.050 Complex membrane type-1 matrix metalloproteinase (mt1-mmp) w inhibitor of metalloproteinase-1 (timp-1) 468 3C7X pdb_description: 10-Feb-09 X-ray 1.700 Hemopexin-like domain of matrix metalloproteinase 14 468 1BUV pdb_description: 02-Sep-99 X-ray 2.750 Crystal structure of the mt1-mmp-timp-2 complex 468 1BQQ pdb_description: 18-Aug-99 X-ray 2.750 Crystal structure of the mt1-mmp--timp-2 complex 468 Zimmer Variants: 468 chr14:23306048:C:T 1749_22_8_P->S;GENE=MMP14;CDSS=2 468 HGMD Variants: 468 chr14:23306076:C:G 1749_50_17_T->R 468 oneKG Variants: 468 chr14:23306034:C:T 1749_8_3_P->L 0.000399361 468 chr14:23306036:G:A 1749_10_4_A->T 0.00958466 468 chr14:23306040:C:G 1749_14_5_P->R 0.000199681 468 chr14:23306048:C:T 1749_22_8_P->S 0.132388 468 chr14:23310700:G:C 1749_109_37_A->P 0.00279553 468 chr14:23310727:C:T 1749_136_46_P->S 0.000199681 468 chr14:23311201:G:A 1749_337_113_A->T 0.000199681 468 chr14:23311669:T:C 1749_431_144_I->T 0.000199681 468 chr14:23311678:C:T 1749_440_147_A->V 0.000199681 468 chr14:23311686:G:A 1749_448_150_V->M 0.000199681 468 chr14:23311741:G:A 1749_503_168_R->H 0.000199681 468 chr14:23311863:A:G 1749_625_209_I->V 0.000199681 468 chr14:23312474:A:G 1749_697_233_I->V 0.00898562 468 chr14:23312594:G:A 1749_817_273_D->N 0.109824 468 chr14:23312606:C:T 1749_829_277_R->W 0.000399361 468 chr14:23313026:G:A 1749_958_320_D->N 0.000199681 468 chr14:23313052:G:T 1749_984_328_M->I 0.000199681 468 chr14:23313618:G:A 1749_1050_350_M->I 0.000599042 468 chr14:23313633:G:A 1749_1065_355_M->I 0.00559105 468 chr14:23313653:G:A 1749_1085_362_R->Q 0.000399361 468 chr14:23313848:A:G 1749_1160_387_H->R 0.000199681 468 chr14:23313980:G:A 1749_1292_431_R->H 0.00439297 468 chr14:23315049:G:A 1749_1550_517_G->E 0.000199681 468 chr14:23315064:C:G 1749_1565_522_T->R 0.000199681 468 chr14:23315078:A:G 1749_1579_527_I->V 0.000199681 468 chr14:23315103:G:C 1749_1604_535_G->A 0.000199681 468 chr14:23315183:T:C 1749_1684_562_F->L 0.000199681 468 na12878 Variants: 468 chr14:23306048:C:T 1749_22_8_P->S 468 snyder Variants: 468 chr14:23306048:C:T 1749_22_8_P->S 469 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000215271_ENST00000357460 gene_Name: HOMEZ_HUMAN 469 list of pdbs: 469 2YS9 pdb_description: 09-Oct-07 NMR 20 Structure of the third homeodomain from the human homeobox and leucine zipper protein, homez 469 2ECC pdb_description: 27-Feb-07 NMR 20 Solution structure of the second homeobox domain of human homeodomain leucine zipper-encoding gene (homez) 469 Zimmer Variants: 469 chr14:23745533:C:T 1653_904_302_A->T;HUB=REG;GENE=HOMEZ;CDSS=2 469 HGMD Variants: 469 chr14:23745807:A:T 1653_630_210_S->R 469 chr14:23746321:G:A 1653_116_39_A->V 469 oneKG Variants: 469 chr14:23745229:C:T 1653_1208_403_W->* 0.000199681 469 chr14:23744858:C:A 1653_1579_527_D->Y 0.000199681 469 chr14:23744892:T:G 1653_1545_515_E->D 0.000199681 469 chr14:23744932:C:T 1653_1505_502_R->Q 0.137181 469 chr14:23745008:G:A 1653_1429_477_R->W 0.000199681 469 chr14:23745014:G:C 1653_1423_475_Q->E 0.000998403 469 chr14:23745016:T:C 1653_1421_474_Q->R 0.00179712 469 chr14:23745098:C:T 1653_1339_447_E->K 0.000199681 469 chr14:23745161:C:T 1653_1276_426_G->S 0.000199681 469 chr14:23745289:C:T 1653_1148_383_R->H 0.000199681 469 chr14:23745308:G:T 1653_1129_377_Q->K 0.000199681 469 chr14:23745376:A:G 1653_1061_354_M->T 0.000199681 469 chr14:23745430:C:T 1653_1007_336_R->Q 0.00139776 469 chr14:23745562:A:G 1653_875_292_F->S 0.000199681 469 chr14:23745563:A:C 1653_874_292_F->V 0.000199681 469 chr14:23745577:G:C 1653_860_287_S->C 0.000798722 469 chr14:23745607:G:A 1653_830_277_S->L 0.000599042 469 chr14:23745638:C:T 1653_799_267_A->T 0.000399361 469 chr14:23745713:C:T 1653_724_242_G->S 0.000399361 469 chr14:23745769:A:G 1653_668_223_L->P 0.000199681 469 chr14:23745904:G:A 1653_533_178_T->M 0.000599042 469 chr14:23745910:G:A 1653_527_176_T->I 0.000199681 469 chr14:23745956:C:T 1653_481_161_E->K 0.000199681 469 chr14:23745974:G:A 1653_463_155_P->S 0.000199681 469 chr14:23746051:C:T 1653_386_129_R->H 0.000199681 469 chr14:23746061:C:T 1653_376_126_V->I 0.000599042 469 chr14:23746247:G:C 1653_190_64_L->V 0.000199681 469 chr14:23746280:G:A 1653_157_53_L->F 0.000199681 469 chr14:23746340:C:T 1653_97_33_G->S 0.000399361 469 chr14:23755134:C:T 1653_28_10_G->R 0.00339457 469 na12878 Variants: 469 chr14:23745533:C:T 1653_904_302_A->T 469 snyder Variants: 469 chr14:23745533:C:T 1653_904_302_A->T 470 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100453_ENST00000216341 gene_Name: GRAB_HUMAN 470 list of pdbs: 470 1IAU pdb_description: 02-May-01 X-ray 2.000 Human granzyme b in complex with ac-iepd-cho 470 1FQ3 pdb_description: 31-Jan-01 X-ray 3.100 Crystal structure of human granzyme b 470 Zimmer Variants: 470 chr14:25102160:C:T 744_164_55_R->Q 470 HGMD Variants: 470 chr14:25100282:A:G 744_739_247_Y->H 470 chr14:25101589:G:C 744_280_94_P->A 470 chr14:25102160:C:T 744_164_55_R->Q 470 oneKG Variants: 470 chr14:25100282:A:G 744_739_247_Y->H 0.291933 470 chr14:25100284:C:T 744_737_246_R->H 0.000399361 470 chr14:25100291:T:A 744_730_244_M->L 0.000199681 470 chr14:25100348:T:A 744_673_225_M->L 0.000599042 470 chr14:25100355:G:T 744_666_222_N->K 0.000199681 470 chr14:25100391:G:T 744_630_210_N->K 0.00159744 470 chr14:25100392:T:C 744_629_210_N->S 0.000199681 470 chr14:25101074:G:A 744_590_197_T->I 0.000599042 470 chr14:25101099:C:T 744_565_189_V->M 0.000199681 470 chr14:25101132:G:A 744_532_178_R->C 0.000399361 470 chr14:25101135:A:C 744_529_177_L->V 0.000199681 470 chr14:25101152:C:T 744_512_171_R->Q 0.000199681 470 chr14:25101180:C:G 744_484_162_E->Q 0.000399361 470 chr14:25101305:C:T 744_359_120_R->Q 0.000399361 470 chr14:25101308:T:C 744_356_119_K->R 0.000199681 470 chr14:25101589:G:C 744_280_94_P->A 0.301917 470 chr14:25102160:C:T 744_164_55_R->Q 0.319289 470 chr14:25102176:C:T 744_148_50_G->S 0.000199681 470 chr14:25102208:A:G 744_116_39_M->T 0.000199681 470 chr14:25102257:C:T 744_67_23_G->R 0.000199681 470 chr14:25103350:A:G 744_17_6_L->P 0.000199681 470 na12878 Variants: 470 chr14:25100282:A:G 744_739_247_Y->H 470 chr14:25102160:C:T 744_164_55_R->Q 470 snyder Variants: 470 chr14:25102160:C:T 744_164_55_R->Q 471 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100453_ENST00000382542 gene_Name: 471 list of pdbs: 471 1IAU pdb_description: 02-May-01 X-ray 2.000 Human granzyme b in complex with ac-iepd-cho 471 1FQ3 pdb_description: 31-Jan-01 X-ray 3.100 Crystal structure of human granzyme b 471 Zimmer Variants: 471 chr14:25102160:C:T 846_266_89_R->Q 471 HGMD Variants: 471 chr14:25100282:A:G 846_841_281_Y->H 471 chr14:25101589:G:C 846_382_128_P->A 471 chr14:25102160:C:T 846_266_89_R->Q 471 oneKG Variants: 471 chr14:25103414:G:A 846_55_19_Q->* 0.295927 471 chr14:25100282:A:G 846_841_281_Y->H 0.291933 471 chr14:25100284:C:T 846_839_280_R->H 0.000399361 471 chr14:25100291:T:A 846_832_278_M->L 0.000199681 471 chr14:25100348:T:A 846_775_259_M->L 0.000599042 471 chr14:25100355:G:T 846_768_256_N->K 0.000199681 471 chr14:25100391:G:T 846_732_244_N->K 0.00159744 471 chr14:25100392:T:C 846_731_244_N->S 0.000199681 471 chr14:25101074:G:A 846_692_231_T->I 0.000599042 471 chr14:25101099:C:T 846_667_223_V->M 0.000199681 471 chr14:25101132:G:A 846_634_212_R->C 0.000399361 471 chr14:25101135:A:C 846_631_211_L->V 0.000199681 471 chr14:25101152:C:T 846_614_205_R->Q 0.000199681 471 chr14:25101180:C:G 846_586_196_E->Q 0.000399361 471 chr14:25101305:C:T 846_461_154_R->Q 0.000399361 471 chr14:25101308:T:C 846_458_153_K->R 0.000199681 471 chr14:25101589:G:C 846_382_128_P->A 0.301917 471 chr14:25102160:C:T 846_266_89_R->Q 0.319289 471 chr14:25102176:C:T 846_250_84_G->S 0.000199681 471 chr14:25102208:A:G 846_218_73_M->T 0.000199681 471 chr14:25102257:C:T 846_169_57_G->R 0.000199681 471 chr14:25103350:A:G 846_119_40_L->P 0.000199681 471 chr14:25103421:T:G 846_48_16_K->N 0.00299521 471 na12878 Variants: 471 chr14:25103414:G:A 846_55_19_Q->* 471 chr14:25100282:A:G 846_841_281_Y->H 471 chr14:25102160:C:T 846_266_89_R->Q 471 snyder Variants: 471 chr14:25102160:C:T 846_266_89_R->Q 472 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100473_ENST00000216361 gene_Name: COCH_HUMAN 472 list of pdbs: 472 1JBI pdb_description: 17-Oct-01 NMR 20 Nmr structure of the lccl domain 472 Zimmer Variants: 472 chr14:31355096:C:G 1653_1055_352_T->S 472 HGMD Variants: 472 chr14:31346808:G:A 1653_113_38_G->D 472 chr14:31346846:C:T 1653_151_51_P->S 472 chr14:31346892:T:G 1653_197_66_V->G 472 chr14:31348036:G:T 1653_259_87_G->W 472 chr14:31348037:G:T 1653_260_87_G->V 472 chr14:31348040:G:A 1653_263_88_G->E 472 chr14:31348043:C:A 1653_266_89_P->H 472 chr14:31348103:T:A 1653_326_109_I->N 472 chr14:31348103:T:C 1653_326_109_I->T 472 chr14:31348118:T:C 1653_341_114_L->P 472 chr14:31348126:T:C 1653_349_117_W->R 472 chr14:31348132:G:A 1653_355_119_A->T 472 chr14:31348139:T:C 1653_362_121_F->S 472 chr14:31349796:G:A 1653_485_162_C->Y 472 chr14:31355156:T:C 1653_1115_372_I->T 472 chr14:31355344:A:G 1653_1303_435_R->G 472 chr14:31355500:G:C 1653_1459_487_A->P 472 chr14:31358873:A:G 1653_1529_510_K->R 472 chr14:31358879:T:C 1653_1535_512_M->T 472 chr14:31358924:T:G 1653_1580_527_F->C 472 chr14:31358968:T:C 1653_1624_542_C->R 472 chr14:31358969:G:T 1653_1625_542_C->F 472 chr14:31358969:G:A 1653_1625_542_C->Y 472 oneKG Variants: 472 chr14:31349849:C:T 1653_538_180_R->* 0.000199681 472 chr14:31344164:C:T 1653_20_7_P->L 0.000199681 472 chr14:31344283:C:T 1653_56_19_P->L 0.000199681 472 chr14:31344300:G:C 1653_73_25_E->Q 0.000399361 472 chr14:31346888:A:G 1653_193_65_I->V 0.000399361 472 chr14:31346892:T:C 1653_197_66_V->A 0.000199681 472 chr14:31348049:G:A 1653_272_91_R->Q 0.000998403 472 chr14:31348658:G:A 1653_403_135_G->R 0.000399361 472 chr14:31349664:G:A 1653_443_148_R->Q 0.000199681 472 chr14:31349838:T:C 1653_527_176_I->T 0.000199681 472 chr14:31349921:G:A 1653_610_204_V->M 0.000399361 472 chr14:31353823:A:G 1653_694_232_I->V 0.000199681 472 chr14:31354671:G:T 1653_805_269_V->L 0.000199681 472 chr14:31354680:G:A 1653_814_272_V->I 0.000399361 472 chr14:31354707:G:A 1653_841_281_D->N 0.00199681 472 chr14:31355068:G:A 1653_1027_343_V->I 0.000199681 472 chr14:31355096:C:G 1653_1055_352_T->S 0.411342 472 chr14:31355181:T:A 1653_1140_380_D->E 0.000399361 472 chr14:31355192:G:A 1653_1151_384_R->H 0.000199681 472 chr14:31355225:A:G 1653_1184_395_K->R 0.000199681 472 chr14:31355245:A:G 1653_1204_402_I->V 0.00259585 472 chr14:31355311:T:G 1653_1270_424_Y->D 0.000199681 472 chr14:31355389:A:G 1653_1348_450_I->V 0.000399361 472 chr14:31358857:C:A 1653_1513_505_P->T 0.000199681 472 chr14:31358865:T:A 1653_1521_507_D->E 0.000798722 472 chr14:31358897:A:G 1653_1553_518_E->G 0.00838658 472 na12878 Variants: 472 chr14:31355096:C:G 1653_1055_352_T->S 472 snyder Variants: 472 chr14:31355096:C:G 1653_1055_352_T->S 473 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000100473_ENST00000396618 gene_Name: COCH_HUMAN 473 list of pdbs: 473 1JBI pdb_description: 17-Oct-01 NMR 20 Nmr structure of the lccl domain 473 Zimmer Variants: 473 chr14:31355096:C:G 1653_1055_352_T->S 473 HGMD Variants: 473 chr14:31346808:G:A 1653_113_38_G->D 473 chr14:31346846:C:T 1653_151_51_P->S 473 chr14:31346892:T:G 1653_197_66_V->G 473 chr14:31348036:G:T 1653_259_87_G->W 473 chr14:31348037:G:T 1653_260_87_G->V 473 chr14:31348040:G:A 1653_263_88_G->E 473 chr14:31348043:C:A 1653_266_89_P->H 473 chr14:31348103:T:A 1653_326_109_I->N 473 chr14:31348103:T:C 1653_326_109_I->T 473 chr14:31348118:T:C 1653_341_114_L->P 473 chr14:31348126:T:C 1653_349_117_W->R 473 chr14:31348132:G:A 1653_355_119_A->T 473 chr14:31348139:T:C 1653_362_121_F->S 473 chr14:31349796:G:A 1653_485_162_C->Y 473 chr14:31355156:T:C 1653_1115_372_I->T 473 chr14:31355344:A:G 1653_1303_435_R->G 473 chr14:31355500:G:C 1653_1459_487_A->P 473 chr14:31358873:A:G 1653_1529_510_K->R 473 chr14:31358879:T:C 1653_1535_512_M->T 473 chr14:31358924:T:G 1653_1580_527_F->C 473 chr14:31358968:T:C 1653_1624_542_C->R 473 chr14:31358969:G:T 1653_1625_542_C->F 473 chr14:31358969:G:A 1653_1625_542_C->Y 473 oneKG Variants: 473 chr14:31349849:C:T 1653_538_180_R->* 0.000199681 473 chr14:31344164:C:T 1653_20_7_P->L 0.000199681 473 chr14:31344283:C:T 1653_56_19_P->L 0.000199681 473 chr14:31344300:G:C 1653_73_25_E->Q 0.000399361 473 chr14:31346888:A:G 1653_193_65_I->V 0.000399361 473 chr14:31346892:T:C 1653_197_66_V->A 0.000199681 473 chr14:31348049:G:A 1653_272_91_R->Q 0.000998403 473 chr14:31348658:G:A 1653_403_135_G->R 0.000399361 473 chr14:31349664:G:A 1653_443_148_R->Q 0.000199681 473 chr14:31349838:T:C 1653_527_176_I->T 0.000199681 473 chr14:31349921:G:A 1653_610_204_V->M 0.000399361 473 chr14:31353823:A:G 1653_694_232_I->V 0.000199681 473 chr14:31354671:G:T 1653_805_269_V->L 0.000199681 473 chr14:31354680:G:A 1653_814_272_V->I 0.000399361 473 chr14:31354707:G:A 1653_841_281_D->N 0.00199681 473 chr14:31355068:G:A 1653_1027_343_V->I 0.000199681 473 chr14:31355096:C:G 1653_1055_352_T->S 0.411342 473 chr14:31355181:T:A 1653_1140_380_D->E 0.000399361 473 chr14:31355192:G:A 1653_1151_384_R->H 0.000199681 473 chr14:31355225:A:G 1653_1184_395_K->R 0.000199681 473 chr14:31355245:A:G 1653_1204_402_I->V 0.00259585 473 chr14:31355311:T:G 1653_1270_424_Y->D 0.000199681 473 chr14:31355389:A:G 1653_1348_450_I->V 0.000399361 473 chr14:31358857:C:A 1653_1513_505_P->T 0.000199681 473 chr14:31358865:T:A 1653_1521_507_D->E 0.000798722 473 chr14:31358897:A:G 1653_1553_518_E->G 0.00838658 473 na12878 Variants: 473 chr14:31355096:C:G 1653_1055_352_T->S 473 snyder Variants: 473 chr14:31355096:C:G 1653_1055_352_T->S 474 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000179841_ENST00000394718 gene_Name: AKAP5_HUMAN 474 list of pdbs: 474 3LL8 pdb_description: 12-Jan-11 X-ray 2.000 Crystal structure of calcineurin in complex with akap79 pept 474 2H9R pdb_description: 29-Aug-06 NMR 10 Docking and dimerization domain (d/d) of the regulatory subunit of the type ii-alpha camp-dependent protein kinase a associated with a peptide derived from an a-kinase anchoring protein (akap) 474 Zimmer Variants: 474 chr14:64935720:C:T 1284_608_203_T->I;HUB=PPI;GENE=AKAP5;CDSS=2 474 HGMD Variants: 474 chr14:64935411:C:T 1284_299_100_P->L 474 oneKG Variants: 474 chr14:64935148:C:G 1284_36_12_N->K 0.000599042 474 chr14:64935213:T:C 1284_101_34_M->T 0.000199681 474 chr14:64935236:A:C 1284_124_42_K->Q 0.000399361 474 chr14:64935279:C:T 1284_167_56_A->V 0.000199681 474 chr14:64935330:A:G 1284_218_73_E->G 0.000199681 474 chr14:64935339:G:C 1284_227_76_R->P 0.000199681 474 chr14:64935362:C:T 1284_250_84_R->C 0.000199681 474 chr14:64935411:C:T 1284_299_100_P->L 0.071885 474 chr14:64935563:A:G 1284_451_151_S->G 0.00139776 474 chr14:64935675:G:A 1284_563_188_R->Q 0.0325479 474 chr14:64935720:C:T 1284_608_203_T->I 0.016174 474 chr14:64935726:C:T 1284_614_205_S->F 0.00139776 474 chr14:64935794:C:G 1284_682_228_L->V 0.000399361 474 chr14:64935894:T:C 1284_782_261_V->A 0.000399361 474 chr14:64935983:G:A 1284_871_291_G->R 0.00259585 474 chr14:64936052:G:A 1284_940_314_E->K 0.00938498 474 chr14:64936106:A:T 1284_994_332_S->C 0.00119808 474 chr14:64936155:G:C 1284_1043_348_S->T 0.000199681 474 chr14:64936253:G:C 1284_1141_381_E->Q 0.000199681 474 chr14:64936340:C:G 1284_1228_410_Q->E 0.000199681 474 chr14:64936355:A:G 1284_1243_415_M->V 0.000599042 474 na12878 Variants: 474 chr14:64935720:C:T 1284_608_203_T->I 474 snyder Variants: 474 chr14:64935720:C:T 1284_608_203_T->I 475 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000179841_ENST00000320636 gene_Name: AKAP5_HUMAN 475 list of pdbs: 475 3LL8 pdb_description: 12-Jan-11 X-ray 2.000 Crystal structure of calcineurin in complex with akap79 pept 475 2H9R pdb_description: 29-Aug-06 NMR 10 Docking and dimerization domain (d/d) of the regulatory subunit of the type ii-alpha camp-dependent protein kinase a associated with a peptide derived from an a-kinase anchoring protein (akap) 475 Zimmer Variants: 475 chr14:64935720:C:T 1284_608_203_T->I 475 HGMD Variants: 475 chr14:64935411:C:T 1284_299_100_P->L 475 oneKG Variants: 475 chr14:64935148:C:G 1284_36_12_N->K 0.000599042 475 chr14:64935213:T:C 1284_101_34_M->T 0.000199681 475 chr14:64935236:A:C 1284_124_42_K->Q 0.000399361 475 chr14:64935279:C:T 1284_167_56_A->V 0.000199681 475 chr14:64935330:A:G 1284_218_73_E->G 0.000199681 475 chr14:64935339:G:C 1284_227_76_R->P 0.000199681 475 chr14:64935362:C:T 1284_250_84_R->C 0.000199681 475 chr14:64935411:C:T 1284_299_100_P->L 0.071885 475 chr14:64935563:A:G 1284_451_151_S->G 0.00139776 475 chr14:64935675:G:A 1284_563_188_R->Q 0.0325479 475 chr14:64935720:C:T 1284_608_203_T->I 0.016174 475 chr14:64935726:C:T 1284_614_205_S->F 0.00139776 475 chr14:64935794:C:G 1284_682_228_L->V 0.000399361 475 chr14:64935894:T:C 1284_782_261_V->A 0.000399361 475 chr14:64935983:G:A 1284_871_291_G->R 0.00259585 475 chr14:64936052:G:A 1284_940_314_E->K 0.00938498 475 chr14:64936106:A:T 1284_994_332_S->C 0.00119808 475 chr14:64936155:G:C 1284_1043_348_S->T 0.000199681 475 chr14:64936253:G:C 1284_1141_381_E->Q 0.000199681 475 chr14:64936340:C:G 1284_1228_410_Q->E 0.000199681 475 chr14:64936355:A:G 1284_1243_415_M->V 0.000599042 475 na12878 Variants: 475 chr14:64935720:C:T 1284_608_203_T->I 475 snyder Variants: 475 chr14:64935720:C:T 1284_608_203_T->I 476 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000140022_ENST00000555447 gene_Name: STON2_HUMAN 476 list of pdbs: 476 2JXC pdb_description: 08-Jan-08 NMR 10 Structure of the eps15-eh2 stonin2 complex 476 Zimmer Variants: 476 chr14:81737076:A:C 2763_2551_851_S->A 476 chr14:81744736:A:G 2763_919_307_S->P 476 HGMD Variants: 476 chr14:81737076:A:C 2763_2551_851_S->A 476 chr14:81744736:A:G 2763_919_307_S->P 476 oneKG Variants: 476 chr14:81743266:G:A 2763_2389_797_R->* 0.000199681 476 chr14:81728132:C:T 2763_2757_919_M->I 0.000399361 476 chr14:81728194:C:A 2763_2695_899_V->L 0.0371406 476 chr14:81737076:A:C 2763_2551_851_S->A 0.432907 476 chr14:81737079:T:C 2763_2548_850_I->V 0.000399361 476 chr14:81737108:G:A 2763_2519_840_T->I 0.000399361 476 chr14:81737171:G:A 2763_2456_819_S->F 0.000199681 476 chr14:81743265:C:T 2763_2390_797_R->Q 0.000399361 476 chr14:81743331:A:G 2763_2324_775_M->T 0.000798722 476 chr14:81743403:T:G 2763_2252_751_K->T 0.000199681 476 chr14:81743421:T:G 2763_2234_745_E->A 0.000199681 476 chr14:81743565:T:C 2763_2090_697_N->S 0.0371406 476 chr14:81743575:T:C 2763_2080_694_T->A 0.0101837 476 chr14:81743580:G:A 2763_2075_692_T->M 0.000199681 476 chr14:81743603:C:A 2763_2052_684_K->N 0.000199681 476 chr14:81743617:C:T 2763_2038_680_V->M 0.000599042 476 chr14:81743653:C:T 2763_2002_668_D->N 0.00259585 476 chr14:81743712:T:C 2763_1943_648_H->R 0.0 476 chr14:81743718:C:T 2763_1937_646_R->H 0.0686901 476 chr14:81743821:G:A 2763_1834_612_R->C 0.000199681 476 chr14:81743830:C:T 2763_1825_609_A->T 0.000199681 476 chr14:81743890:G:C 2763_1765_589_Q->E 0.000199681 476 chr14:81743978:C:G 2763_1677_559_L->F 0.000199681 476 chr14:81744001:G:T 2763_1654_552_L->M 0.000199681 476 chr14:81744012:C:T 2763_1643_548_R->H 0.000199681 476 chr14:81744049:C:T 2763_1606_536_D->N 0.000199681 476 chr14:81744076:C:T 2763_1579_527_V->M 0.00359425 476 chr14:81744099:G:C 2763_1556_519_A->G 0.000199681 476 chr14:81744138:T:C 2763_1517_506_Y->C 0.0 476 chr14:81744148:G:A 2763_1507_503_R->C 0.000399361 476 chr14:81744178:T:G 2763_1477_493_N->H 0.000199681 476 chr14:81744201:G:A 2763_1454_485_P->L 0.000199681 476 chr14:81744381:C:T 2763_1274_425_R->H 0.000599042 476 chr14:81744475:C:G 2763_1180_394_D->H 0.000199681 476 chr14:81744484:C:T 2763_1171_391_D->N 0.000199681 476 chr14:81744520:A:T 2763_1135_379_S->T 0.000199681 476 chr14:81744693:T:C 2763_962_321_Q->R 0.0283546 476 chr14:81744736:A:G 2763_919_307_S->P 0.254992 476 chr14:81744759:C:T 2763_896_299_R->H 0.00778754 476 chr14:81744760:G:A 2763_895_299_R->C 0.000998403 476 chr14:81744850:A:G 2763_805_269_S->P 0.000199681 476 chr14:81744948:T:C 2763_707_236_D->G 0.000199681 476 chr14:81745066:G:C 2763_589_197_Q->E 0.000199681 476 chr14:81837403:G:A 2763_500_167_S->L 0.000199681 476 chr14:81837406:C:T 2763_497_166_C->Y 0.000199681 476 chr14:81837512:G:C 2763_391_131_P->A 0.000199681 476 chr14:81862294:T:A 2763_317_106_E->V 0.000199681 476 chr14:81862360:G:A 2763_251_84_P->L 0.000399361 476 chr14:81862409:G:T 2763_202_68_Q->K 0.000199681 476 chr14:81862486:G:A 2763_125_42_S->F 0.000199681 476 chr14:81864659:G:C 2763_68_23_P->R 0.000399361 476 chr14:81864722:G:A 2763_5_2_T->M 0.000599042 476 na12878 Variants: 476 chr14:81737076:A:C 2763_2551_851_S->A 476 chr14:81744736:A:G 2763_919_307_S->P 476 snyder Variants: 476 chr14:81737076:A:C 2763_2551_851_S->A 476 chr14:81744736:A:G 2763_919_307_S->P 477 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000140022_ENST00000267540 gene_Name: STON2_HUMAN 477 list of pdbs: 477 2JXC pdb_description: 08-Jan-08 NMR 10 Structure of the eps15-eh2 stonin2 complex 477 Zimmer Variants: 477 chr14:81737076:A:C 2718_2551_851_S->A;GENE=STON2;CDSS=2 477 chr14:81744736:A:G 2718_919_307_S->P;GENE=STON2;CDSS=2 477 HGMD Variants: 477 chr14:81737076:A:C 2718_2551_851_S->A 477 chr14:81744736:A:G 2718_919_307_S->P 477 oneKG Variants: 477 chr14:81743266:G:A 2718_2389_797_R->* 0.000199681 477 chr14:81736917:C:T 2718_2710_904_A->T 0.00259585 477 chr14:81736985:A:C 2718_2642_881_L->R 0.000199681 477 chr14:81737006:A:G 2718_2621_874_L->S 0.000199681 477 chr14:81737076:A:C 2718_2551_851_S->A 0.432907 477 chr14:81737079:T:C 2718_2548_850_I->V 0.000399361 477 chr14:81737108:G:A 2718_2519_840_T->I 0.000399361 477 chr14:81737171:G:A 2718_2456_819_S->F 0.000199681 477 chr14:81743265:C:T 2718_2390_797_R->Q 0.000399361 477 chr14:81743331:A:G 2718_2324_775_M->T 0.000798722 477 chr14:81743403:T:G 2718_2252_751_K->T 0.000199681 477 chr14:81743421:T:G 2718_2234_745_E->A 0.000199681 477 chr14:81743565:T:C 2718_2090_697_N->S 0.0371406 477 chr14:81743575:T:C 2718_2080_694_T->A 0.0101837 477 chr14:81743580:G:A 2718_2075_692_T->M 0.000199681 477 chr14:81743603:C:A 2718_2052_684_K->N 0.000199681 477 chr14:81743617:C:T 2718_2038_680_V->M 0.000599042 477 chr14:81743653:C:T 2718_2002_668_D->N 0.00259585 477 chr14:81743712:T:C 2718_1943_648_H->R 0.0 477 chr14:81743718:C:T 2718_1937_646_R->H 0.0686901 477 chr14:81743821:G:A 2718_1834_612_R->C 0.000199681 477 chr14:81743830:C:T 2718_1825_609_A->T 0.000199681 477 chr14:81743890:G:C 2718_1765_589_Q->E 0.000199681 477 chr14:81743978:C:G 2718_1677_559_L->F 0.000199681 477 chr14:81744001:G:T 2718_1654_552_L->M 0.000199681 477 chr14:81744012:C:T 2718_1643_548_R->H 0.000199681 477 chr14:81744049:C:T 2718_1606_536_D->N 0.000199681 477 chr14:81744076:C:T 2718_1579_527_V->M 0.00359425 477 chr14:81744099:G:C 2718_1556_519_A->G 0.000199681 477 chr14:81744138:T:C 2718_1517_506_Y->C 0.0 477 chr14:81744148:G:A 2718_1507_503_R->C 0.000399361 477 chr14:81744178:T:G 2718_1477_493_N->H 0.000199681 477 chr14:81744201:G:A 2718_1454_485_P->L 0.000199681 477 chr14:81744381:C:T 2718_1274_425_R->H 0.000599042 477 chr14:81744475:C:G 2718_1180_394_D->H 0.000199681 477 chr14:81744484:C:T 2718_1171_391_D->N 0.000199681 477 chr14:81744520:A:T 2718_1135_379_S->T 0.000199681 477 chr14:81744693:T:C 2718_962_321_Q->R 0.0283546 477 chr14:81744736:A:G 2718_919_307_S->P 0.254992 477 chr14:81744759:C:T 2718_896_299_R->H 0.00778754 477 chr14:81744760:G:A 2718_895_299_R->C 0.000998403 477 chr14:81744850:A:G 2718_805_269_S->P 0.000199681 477 chr14:81744948:T:C 2718_707_236_D->G 0.000199681 477 chr14:81745066:G:C 2718_589_197_Q->E 0.000199681 477 chr14:81837403:G:A 2718_500_167_S->L 0.000199681 477 chr14:81837406:C:T 2718_497_166_C->Y 0.000199681 477 chr14:81837512:G:C 2718_391_131_P->A 0.000199681 477 chr14:81862294:T:A 2718_317_106_E->V 0.000199681 477 chr14:81862360:G:A 2718_251_84_P->L 0.000399361 477 chr14:81862409:G:T 2718_202_68_Q->K 0.000199681 477 chr14:81862486:G:A 2718_125_42_S->F 0.000199681 477 chr14:81864659:G:C 2718_68_23_P->R 0.000399361 477 chr14:81864722:G:A 2718_5_2_T->M 0.000599042 477 na12878 Variants: 477 chr14:81737076:A:C 2718_2551_851_S->A 477 chr14:81744736:A:G 2718_919_307_S->P 477 snyder Variants: 477 chr14:81737076:A:C 2718_2551_851_S->A 477 chr14:81744736:A:G 2718_919_307_S->P 478 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000213614_ENST00000268097 gene_Name: HEXA_HUMAN 478 list of pdbs: 478 2GK1 pdb_description: 30-May-06 X-ray 3.250 X-ray crystal structure of ngt-bound hexa 478 2GJX pdb_description: 20-Jun-06 X-ray 2.800 Crystallographic structure of human beta-hexosaminidase a 478 1QBC pdb_description: 11-Jan-97 Theoret model Hexosaminidase alpha chain, glycosyl hydrolase family 20, theoretical model 478 Zimmer Variants: 478 chr15:72638892:T:C 1590_1306_436_I->V 478 HGMD Variants: 478 chr15:72636471:G:A 1590_1537_513_Q->* 478 chr15:72636480:G:A 1590_1528_510_R->* 478 chr15:72637859:C:T 1590_1454_485_W->* 478 chr15:72637887:T:A 1590_1426_476_R->* 478 chr15:72638576:C:T 1590_1421_474_W->* 478 chr15:72638906:C:T 1590_1292_431_W->* 478 chr15:72639021:G:A 1590_1177_393_R->* 478 chr15:72639023:C:T 1590_1175_392_W->* 478 chr15:72639030:G:A 1590_1168_390_Q->* 478 chr15:72641420:C:T 1590_986_329_W->* 478 chr15:72642955:G:A 1590_709_237_Q->* 478 chr15:72645439:G:C 1590_540_180_Y->* 478 chr15:72647903:G:A 1590_409_137_R->* 478 chr15:72648896:G:A 1590_316_106_Q->* 478 chr15:72668159:G:T 1590_155_52_S->* 478 chr15:72668236:C:T 1590_78_26_W->* 478 chr15:72637802:C:A 1590_1511_504_R->L 478 chr15:72637802:C:T 1590_1511_504_R->H 478 chr15:72637803:G:A 1590_1510_504_R->C 478 chr15:72637817:C:T 1590_1496_499_R->H 478 chr15:72637818:G:A 1590_1495_499_R->C 478 chr15:72637823:T:C 1590_1490_497_Y->C 478 chr15:72637860:A:G 1590_1453_485_W->R 478 chr15:72637862:A:G 1590_1451_484_L->P 478 chr15:72637869:C:T 1590_1444_482_E->K 478 chr15:72637878:C:T 1590_1435_479_A->T 478 chr15:72637881:C:T 1590_1432_478_G->R 478 chr15:72637891:C:G 1590_1422_474_W->C 478 chr15:72638604:C:T 1590_1393_465_D->N 478 chr15:72638612:T:A 1590_1385_462_E->V 478 chr15:72638622:T:C 1590_1375_459_M->V 478 chr15:72638624:C:T 1590_1373_458_C->Y 478 chr15:72638634:C:T 1590_1363_455_G->R 478 chr15:72638636:C:T 1590_1361_454_G->D 478 chr15:72638637:C:T 1590_1360_454_G->S 478 chr15:72638646:G:C 1590_1351_451_L->V 478 chr15:72638896:G:C 1590_1302_434_F->L 478 chr15:72638938:C:A 1590_1260_420_W->C 478 chr15:72638938:C:G 1590_1260_420_W->C 478 chr15:72639020:C:G 1590_1178_393_R->P 478 chr15:72639027:C:T 1590_1171_391_V->M 478 chr15:72639034:G:C 1590_1164_388_I->M 478 chr15:72640052:T:C 1590_1121_374_Q->R 478 chr15:72640052:T:G 1590_1121_374_Q->P 478 chr15:72640454:C:A 1590_1008_336_Q->H 478 chr15:72640459:T:A 1590_1003_335_I->F 478 chr15:72641441:T:A 1590_965_322_D->V 478 chr15:72641442:C:A 1590_964_322_D->Y 478 chr15:72641442:C:T 1590_964_322_D->N 478 chr15:72641465:T:A 1590_941_314_D->V 478 chr15:72641504:A:C 1590_902_301_M->R 478 chr15:72641508:A:G 1590_898_300_F->L 478 chr15:72641571:A:G 1590_835_279_S->P 478 chr15:72641592:C:T 1590_814_272_G->R 478 chr15:72641600:C:T 1590_806_269_G->D 478 chr15:72642859:C:G 1590_805_269_G->R 478 chr15:72642859:C:T 1590_805_269_G->S 478 chr15:72642868:A:C 1590_796_266_W->G 478 chr15:72642876:G:A 1590_788_263_T->I 478 chr15:72642886:G:A 1590_778_260_P->S 478 chr15:72642889:T:C 1590_775_259_T->A 478 chr15:72642892:C:G 1590_772_258_D->H 478 chr15:72642909:C:A 1590_755_252_R->L 478 chr15:72642909:C:T 1590_755_252_R->H 478 chr15:72642915:C:T 1590_749_250_G->D 478 chr15:72642915:C:A 1590_749_250_G->V 478 chr15:72642916:C:T 1590_748_250_G->S 478 chr15:72642918:C:T 1590_746_249_R->Q 478 chr15:72642919:G:A 1590_745_249_R->W 478 chr15:72642925:G:A 1590_739_247_R->W 478 chr15:72642928:C:T 1590_736_246_A->T 478 chr15:72642987:G:A 1590_677_226_S->F 478 chr15:72643514:A:G 1590_632_211_F->S 478 chr15:72643517:G:A 1590_629_210_S->F 478 chr15:72643523:T:A 1590_623_208_D->V 478 chr15:72643525:A:C 1590_621_207_D->E 478 chr15:72643535:T:C 1590_611_204_H->R 478 chr15:72643539:A:C 1590_607_203_W->G 478 chr15:72643548:C:T 1590_598_200_V->M 478 chr15:72643556:T:G 1590_590_197_K->T 478 chr15:72643559:T:C 1590_587_196_N->S 478 chr15:72643572:C:G 1590_574_192_V->L 478 chr15:72645441:A:G 1590_538_180_Y->H 478 chr15:72645443:T:C 1590_536_179_H->R 478 chr15:72645444:G:A 1590_535_179_H->Y 478 chr15:72645446:C:A 1590_533_178_R->L 478 chr15:72645446:C:T 1590_533_178_R->H 478 chr15:72645447:G:A 1590_532_178_R->C 478 chr15:72645455:T:G 1590_524_175_D->A 478 chr15:72645470:C:T 1590_509_170_R->Q 478 chr15:72645471:G:A 1590_508_170_R->W 478 chr15:72645483:G:C 1590_496_166_R->G 478 chr15:72647900:C:T 1590_412_138_G->S 478 chr15:72647932:A:C 1590_380_127_L->R 478 chr15:72647933:G:A 1590_379_127_L->F 478 chr15:72648872:C:T 1590_340_114_E->K 478 chr15:72668141:C:T 1590_173_58_C->Y 478 chr15:72668198:A:C 1590_116_39_L->R 478 chr15:72668205:A:T 1590_109_37_Y->N 478 chr15:72668241:G:A 1590_73_25_P->S 478 chr15:72668304:A:G 1590_10_4_S->P 478 chr15:72668312:A:G 1590_2_1_M->T 478 chr15:72668313:T:C 1590_1_1_M->V 478 chr15:72668313:T:G 1590_1_1_M->L 478 chr15:72668313:T:A 1590_1_1_M->L 478 oneKG Variants: 478 chr15:72637878:C:T 1590_1435_479_A->T 0.00279553 478 chr15:72638581:C:G 1590_1416_472_R->S 0.000399361 478 chr15:72638622:T:A 1590_1375_459_M->L 0.000199681 478 chr15:72638892:T:C 1590_1306_436_I->V 0.123602 478 chr15:72638896:G:C 1590_1302_434_F->L 0.000199681 478 chr15:72638927:C:T 1590_1271_424_R->H 0.000199681 478 chr15:72638945:G:C 1590_1253_418_A->G 0.000199681 478 chr15:72638967:C:T 1590_1231_411_G->S 0.000199681 478 chr15:72639003:T:C 1590_1195_399_N->D 0.0367412 478 chr15:72639020:C:T 1590_1178_393_R->Q 0.000199681 478 chr15:72640086:C:T 1590_1087_363_V->I 0.000199681 478 chr15:72640389:G:A 1590_1073_358_T->M 0.000199681 478 chr15:72640420:A:C 1590_1042_348_F->V 0.000199681 478 chr15:72640434:C:A 1590_1028_343_G->V 0.00139776 478 chr15:72641445:C:T 1590_961_321_G->R 0.000199681 478 chr15:72641522:T:C 1590_884_295_N->S 0.000199681 478 chr15:72642901:C:A 1590_763_255_A->S 0.000199681 478 chr15:72642910:G:A 1590_754_252_R->C 0.000199681 478 chr15:72642925:G:A 1590_739_247_R->W 0.000399361 478 chr15:72643530:C:T 1590_616_206_V->I 0.000199681 478 chr15:72645431:A:T 1590_548_183_L->H 0.000798722 478 chr15:72645434:G:A 1590_545_182_P->L 0.000199681 478 chr15:72645446:C:T 1590_533_178_R->H 0.000199681 478 chr15:72668180:T:G 1590_134_45_Q->P 0.000199681 478 chr15:72668276:G:A 1590_38_13_A->V 0.000199681 478 na12878 Variants: 478 chr15:72638892:T:C 1590_1306_436_I->V 478 snyder Variants: 478 chr15:72638892:T:C 1590_1306_436_I->V 479 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000140563_ENST00000331706 gene_Name: MCTP2_HUMAN 479 list of pdbs: 479 2EP6 pdb_description: 02-Oct-07 NMR 20 Solution structure of the second c2 domain from human mctp2 protein 479 Zimmer Variants: 479 chr15:94945719:G:T 921_854_285_R->L 479 HGMD Variants: 479 chr15:94927302:C:T 921_398_133_T->M 479 oneKG Variants: 479 chr15:94901803:G:A 921_27_9_W->* 0.000199681 479 chr15:94911020:T:A 921_252_84_Y->* 0.000199681 479 chr15:94927292:C:T 921_388_130_R->* 0.000998403 479 chr15:94901781:G:A 921_5_2_G->D 0.000199681 479 chr15:94901793:T:C 921_17_6_I->T 0.000399361 479 chr15:94910851:C:T 921_83_28_S->L 0.000399361 479 chr15:94910955:G:A 921_187_63_V->I 0.000199681 479 chr15:94911016:G:A 921_248_83_R->Q 0.000399361 479 chr15:94911018:T:C 921_250_84_Y->H 0.000199681 479 chr15:94913395:C:T 921_332_111_A->V 0.000199681 479 chr15:94927302:C:T 921_398_133_T->M 0.000599042 479 chr15:94927310:G:A 921_406_136_V->I 0.000599042 479 chr15:94928669:A:G 921_467_156_H->R 0.000199681 479 chr15:94942206:C:T 921_569_190_P->L 0.000199681 479 chr15:94942244:G:A 921_607_203_A->T 0.000199681 479 chr15:94942282:A:G 921_645_215_I->M 0.000199681 479 chr15:94942290:C:T 921_653_218_P->L 0.000199681 479 chr15:94943189:C:T 921_694_232_R->C 0.000199681 479 chr15:94945150:C:G 921_751_251_R->G 0.000199681 479 chr15:94945151:G:A 921_752_251_R->H 0.000399361 479 chr15:94945168:A:G 921_769_257_M->V 0.000199681 479 chr15:94945235:C:T 921_836_279_T->I 0.000199681 479 chr15:94945246:G:A 921_847_283_A->T 0.00738818 479 chr15:94945719:G:T 921_854_285_R->L 0.379593 479 na12878 Variants: 479 chr15:94945719:G:T 921_854_285_R->L 479 snyder Variants: 479 chr15:94945719:G:T 921_854_285_R->L 480 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000140563_ENST00000557742 gene_Name: MCTP2_HUMAN 480 list of pdbs: 480 2EP6 pdb_description: 02-Oct-07 NMR 20 Solution structure of the second c2 domain from human mctp2 protein 480 Zimmer Variants: 480 chr15:94945719:G:T 921_854_285_R->L;GNEG=Yes;GENE=MCTP2;CDSS=2 480 HGMD Variants: 480 chr15:94927302:C:T 921_398_133_T->M 480 oneKG Variants: 480 chr15:94901803:G:A 921_27_9_W->* 0.000199681 480 chr15:94911020:T:A 921_252_84_Y->* 0.000199681 480 chr15:94927292:C:T 921_388_130_R->* 0.000998403 480 chr15:94901781:G:A 921_5_2_G->D,1 0.000199681 480 chr15:94901793:T:C 921_17_6_I->T,1 0.000399361 480 chr15:94910851:C:T 921_83_28_S->L 0.000399361 480 chr15:94910955:G:A 921_187_63_V->I 0.000199681 480 chr15:94911016:G:A 921_248_83_R->Q 0.000399361 480 chr15:94911018:T:C 921_250_84_Y->H 0.000199681 480 chr15:94913395:C:T 921_332_111_A->V 0.000199681 480 chr15:94927302:C:T 921_398_133_T->M 0.000599042 480 chr15:94927310:G:A 921_406_136_V->I 0.000599042 480 chr15:94928669:A:G 921_467_156_H->R 0.000199681 480 chr15:94942206:C:T 921_569_190_P->L 0.000199681 480 chr15:94942244:G:A 921_607_203_A->T 0.000199681 480 chr15:94942282:A:G 921_645_215_I->M 0.000199681 480 chr15:94942290:C:T 921_653_218_P->L 0.000199681 480 chr15:94943189:C:T 921_694_232_R->C 0.000199681 480 chr15:94945150:C:G 921_751_251_R->G 0.000199681 480 chr15:94945151:G:A 921_752_251_R->H 0.000399361 480 chr15:94945168:A:G 921_769_257_M->V 0.000199681 480 chr15:94945235:C:T 921_836_279_T->I 0.000199681 480 chr15:94945246:G:A 921_847_283_A->T 0.00738818 480 chr15:94945719:G:T 921_854_285_R->L 0.379593 480 na12878 Variants: 480 chr15:94945719:G:T 921_854_285_R->L 480 snyder Variants: 480 chr15:94945719:G:T 921_854_285_R->L 481 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000087237_ENST00000200676 gene_Name: CETP_HUMAN 481 list of pdbs: 481 4F2A pdb_description: 05-Sep-12 X-ray 3.110 Crystal structure of cholestryl esters transfer protein in c with inhibitors 481 4EWS pdb_description: 05-Sep-12 X-ray 2.590 Crystal structure of cholesteryl ester transfer protein in c with inhibitors 481 2OBD pdb_description: 23-Jan-07 X-ray 2.100 Crystal structure of cholesteryl ester transfer protein 481 Zimmer Variants: 481 chr16:57016092:G:A 1482_1264_422_V->I 481 HGMD Variants: 481 chr16:56996963:C:T 1482_160_54_R->* 481 chr16:56997025:T:G 1482_222_74_Y->* 481 chr16:57003374:C:T 1482_310_104_Q->* 481 chr16:57004961:C:T 1482_544_182_Q->* 481 chr16:57005009:G:T 1482_592_198_G->* 481 chr16:57007345:C:T 1482_853_285_R->* 481 chr16:57009058:C:T 1482_976_326_Q->* 481 chr16:56995908:T:A 1482_17_6_V->D 481 chr16:56996985:C:T 1482_182_61_T->M 481 chr16:57003545:G:A 1482_391_131_D->N 481 chr16:57003847:G:A 1482_461_154_R->Q 481 chr16:57003889:T:C 1482_503_168_L->P 481 chr16:57005293:G:A 1482_658_220_A->T 481 chr16:57005908:C:A 1482_663_221_S->R 481 chr16:57007244:G:T 1482_752_251_G->V 481 chr16:57007295:C:T 1482_803_268_S->L 481 chr16:57007325:T:G 1482_833_278_L->R 481 chr16:57007364:C:A 1482_872_291_A->D 481 chr16:57007387:C:T 1482_895_299_R->C 481 chr16:57009020:T:A 1482_938_313_L->Q 481 chr16:57009022:G:A 1482_940_314_E->K 481 chr16:57012067:C:A 1482_1046_349_S->Y 481 chr16:57015091:G:C 1482_1168_390_A->P 481 chr16:57016092:G:A 1482_1264_422_V->I 481 chr16:57017270:A:G 1482_1354_452_S->G 481 chr16:57017292:A:G 1482_1376_459_D->G 481 chr16:57017319:G:A 1482_1403_468_R->Q 481 oneKG Variants: 481 chr16:57009046:C:T 1482_964_322_Q->* 0.000199681 481 chr16:57017318:C:T 1482_1402_468_R->* 0.000199681 481 chr16:56995908:T:A 1482_17_6_V->D 0.00119808 481 chr16:56995935:C:G 1482_44_15_A->G 0.0231629 481 chr16:56995959:C:T 1482_68_23_S->L 0.000199681 481 chr16:56996947:C:G 1482_144_48_I->M 0.000199681 481 chr16:56996954:G:A 1482_151_51_A->T 0.000199681 481 chr16:56996959:C:G 1482_156_52_F->L 0.000199681 481 chr16:56996985:C:T 1482_182_61_T->M 0.000199681 481 chr16:57003380:G:A 1482_316_106_V->M 0.000199681 481 chr16:57003537:A:T 1482_383_128_Q->L 0.000199681 481 chr16:57003551:G:A 1482_397_133_E->K 0.000199681 481 chr16:57003837:G:A 1482_451_151_G->S 0.000199681 481 chr16:57003846:C:T 1482_460_154_R->W 0.0081869 481 chr16:57003847:G:A 1482_461_154_R->Q 0.000399361 481 chr16:57003852:G:A 1482_466_156_D->N 0.000199681 481 chr16:57005006:A:G 1482_589_197_K->E 0.000199681 481 chr16:57005236:T:G 1482_601_201_C->G 0.000199681 481 chr16:57005908:C:A 1482_663_221_S->R 0.00479233 481 chr16:57007276:C:A 1482_784_262_L->I 0.000199681 481 chr16:57007289:C:G 1482_797_266_T->S 0.000199681 481 chr16:57007364:C:A 1482_872_291_A->D 0.000199681 481 chr16:57007387:C:T 1482_895_299_R->C 0.000399361 481 chr16:57009022:G:A 1482_940_314_E->K 0.000399361 481 chr16:57012012:G:A 1482_991_331_G->S 0.00119808 481 chr16:57012094:A:G 1482_1073_358_N->S 0.000399361 481 chr16:57015076:G:A 1482_1153_385_V->M 0.00279553 481 chr16:57015091:G:C 1482_1168_390_A->P 0.0419329 481 chr16:57015113:T:A 1482_1190_397_L->H 0.000399361 481 chr16:57015588:C:T 1482_1244_415_T->I 0.000199681 481 chr16:57016086:G:A 1482_1258_420_E->K 0.000798722 481 chr16:57016092:G:A 1482_1264_422_V->I 0.466054 481 chr16:57017243:G:A 1482_1327_443_E->K 0.000199681 481 chr16:57017266:G:A 1482_1350_450_M->I 0.000199681 481 chr16:57017282:A:C 1482_1366_456_S->R 0.000199681 481 chr16:57017292:A:G 1482_1376_459_D->G 0.0061901 481 chr16:57017319:G:A 1482_1403_468_R->Q 0.0263578 481 chr16:57017552:G:A 1482_1456_486_V->M 0.000199681 481 na12878 Variants: 481 chr16:57016092:G:A 1482_1264_422_V->I 481 snyder Variants: 481 chr16:57016092:G:A 1482_1264_422_V->I 482 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000087237_ENST00000379780 gene_Name: CETP_HUMAN 482 list of pdbs: 482 4F2A pdb_description: 05-Sep-12 X-ray 3.110 Crystal structure of cholestryl esters transfer protein in c with inhibitors 482 4EWS pdb_description: 05-Sep-12 X-ray 2.590 Crystal structure of cholesteryl ester transfer protein in c with inhibitors 482 2OBD pdb_description: 23-Jan-07 X-ray 2.100 Crystal structure of cholesteryl ester transfer protein 482 Zimmer Variants: 482 chr16:57016092:G:A 1302_1084_362_V->I 482 HGMD Variants: 482 chr16:56996963:C:T 1302_160_54_R->* 482 chr16:56997025:T:G 1302_222_74_Y->* 482 chr16:57003374:C:T 1302_310_104_Q->* 482 chr16:57004961:C:T 1302_544_182_Q->* 482 chr16:57005009:G:T 1302_592_198_G->* 482 chr16:57009058:C:T 1302_796_266_Q->* 482 chr16:56995908:T:A 1302_17_6_V->D 482 chr16:56996985:C:T 1302_182_61_T->M 482 chr16:57003545:G:A 1302_391_131_D->N 482 chr16:57003847:G:A 1302_461_154_R->Q 482 chr16:57003889:T:C 1302_503_168_L->P 482 chr16:57005293:G:A 1302_658_220_A->T 482 chr16:57005908:C:A 1302_663_221_S->R 482 chr16:57009020:T:A 1302_758_253_L->Q 482 chr16:57009022:G:A 1302_760_254_E->K 482 chr16:57012067:C:A 1302_866_289_S->Y 482 chr16:57015091:G:C 1302_988_330_A->P 482 chr16:57016092:G:A 1302_1084_362_V->I 482 chr16:57017270:A:G 1302_1174_392_S->G 482 chr16:57017292:A:G 1302_1196_399_D->G 482 chr16:57017319:G:A 1302_1223_408_R->Q 482 oneKG Variants: 482 chr16:57009046:C:T 1302_784_262_Q->* 0.000199681 482 chr16:57017318:C:T 1302_1222_408_R->* 0.000199681 482 chr16:56995908:T:A 1302_17_6_V->D 0.00119808 482 chr16:56995935:C:G 1302_44_15_A->G 0.0231629 482 chr16:56995959:C:T 1302_68_23_S->L 0.000199681 482 chr16:56996947:C:G 1302_144_48_I->M 0.000199681 482 chr16:56996954:G:A 1302_151_51_A->T 0.000199681 482 chr16:56996959:C:G 1302_156_52_F->L 0.000199681 482 chr16:56996985:C:T 1302_182_61_T->M 0.000199681 482 chr16:57003380:G:A 1302_316_106_V->M 0.000199681 482 chr16:57003537:A:T 1302_383_128_Q->L 0.000199681 482 chr16:57003551:G:A 1302_397_133_E->K 0.000199681 482 chr16:57003837:G:A 1302_451_151_G->S 0.000199681 482 chr16:57003846:C:T 1302_460_154_R->W 0.0081869 482 chr16:57003847:G:A 1302_461_154_R->Q 0.000399361 482 chr16:57003852:G:A 1302_466_156_D->N 0.000199681 482 chr16:57005006:A:G 1302_589_197_K->E 0.000199681 482 chr16:57005236:T:G 1302_601_201_C->G 0.000199681 482 chr16:57005908:C:A 1302_663_221_S->R 0.00479233 482 chr16:57009022:G:A 1302_760_254_E->K 0.000399361 482 chr16:57012012:G:A 1302_811_271_G->S 0.00119808 482 chr16:57012094:A:G 1302_893_298_N->S 0.000399361 482 chr16:57015076:G:A 1302_973_325_V->M 0.00279553 482 chr16:57015091:G:C 1302_988_330_A->P 0.0419329 482 chr16:57015113:T:A 1302_1010_337_L->H 0.000399361 482 chr16:57015588:C:T 1302_1064_355_T->I 0.000199681 482 chr16:57016086:G:A 1302_1078_360_E->K 0.000798722 482 chr16:57016092:G:A 1302_1084_362_V->I 0.466054 482 chr16:57017243:G:A 1302_1147_383_E->K 0.000199681 482 chr16:57017266:G:A 1302_1170_390_M->I 0.000199681 482 chr16:57017282:A:C 1302_1186_396_S->R 0.000199681 482 chr16:57017292:A:G 1302_1196_399_D->G 0.0061901 482 chr16:57017319:G:A 1302_1223_408_R->Q 0.0263578 482 chr16:57017552:G:A 1302_1276_426_V->M 0.000199681 482 na12878 Variants: 482 chr16:57016092:G:A 1302_1084_362_V->I 482 snyder Variants: 482 chr16:57016092:G:A 1302_1084_362_V->I 483 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000140945_ENST00000268613 gene_Name: CAD13_HUMAN 483 list of pdbs: 483 2V37 pdb_description: 10-Jun-08 NMR 20 Solution structure of the n-terminal extracellular domain of human t-cadherin 483 Zimmer Variants: 483 chr16:82673047:C:T 2283_163_55_P->S;GENE=CDH13;CANG=[DNA_repair];CDSS=2 483 HGMD Variants: 483 chr16:82892037:A:G 2283_257_86_N->S 483 chr16:83065646:G:T 2283_330_110_K->N 483 chr16:83378566:C:T 2283_877_293_R->W 483 chr16:83711918:G:A 2283_1531_511_V->I 483 oneKG Variants: 483 chr16:82672967:C:T 2283_83_28_A->V 0.000199681 483 chr16:82673008:C:T 2283_124_42_H->Y 0.000798722 483 chr16:82673041:C:T 2283_157_53_R->C 0.000599042 483 chr16:82673042:G:A 2283_158_53_R->H 0.000199681 483 chr16:82673047:C:T 2283_163_55_P->S 0.061302 483 chr16:82673066:T:C 2283_182_61_M->T 0.000199681 483 chr16:82673069:A:G 2283_185_62_Q->R 0.00259585 483 chr16:82891986:C:T 2283_206_69_A->V 0.000199681 483 chr16:82892037:A:G 2283_257_86_N->S 0.04373 483 chr16:83065641:G:A 2283_325_109_D->N 0.000599042 483 chr16:83065650:C:T 2283_334_112_R->C 0.000199681 483 chr16:83065689:G:A 2283_373_125_D->N 0.000798722 483 chr16:83065743:G:A 2283_427_143_V->I 0.000199681 483 chr16:83065752:C:T 2283_436_146_R->W 0.000399361 483 chr16:83065785:G:A 2283_469_157_V->M 0.000199681 483 chr16:83065791:G:A 2283_475_159_V->I 0.000599042 483 chr16:83065794:G:C 2283_478_160_G->R 0.000798722 483 chr16:83065795:G:C 2283_479_160_G->A 0.000199681 483 chr16:83065797:G:A 2283_481_161_G->R 0.000199681 483 chr16:83065801:A:G 2283_485_162_K->R 0.000199681 483 chr16:83159096:A:T 2283_614_205_D->V 0.000399361 483 chr16:83251055:G:A 2283_730_244_V->I 0.000199681 483 chr16:83378492:A:T 2283_803_268_N->I 0.000199681 483 chr16:83520097:G:A 2283_938_313_R->Q 0.000199681 483 chr16:83520156:A:G 2283_997_333_I->V 0.000199681 483 chr16:83520159:C:T 2283_1000_334_R->C 0.000199681 483 chr16:83520169:C:T 2283_1010_337_T->M 0.000399361 483 chr16:83520193:T:C 2283_1034_345_M->T 0.000199681 483 chr16:83520229:C:T 2283_1070_357_T->I 0.000199681 483 chr16:83636083:C:G 2283_1126_376_L->V 0.000199681 483 chr16:83636128:A:G 2283_1171_391_T->A 0.000199681 483 chr16:83636152:A:G 2283_1195_399_M->V 0.000199681 483 chr16:83636197:G:C 2283_1240_414_E->Q 0.000798722 483 chr16:83704419:G:A 2283_1267_423_A->T 0.00219649 483 chr16:83704425:G:A 2283_1273_425_G->R 0.000199681 483 chr16:83704438:A:G 2283_1286_429_N->S 0.000399361 483 chr16:83711918:G:A 2283_1531_511_V->I 0.000199681 483 chr16:83712011:G:A 2283_1624_542_V->M 0.000199681 483 chr16:83781786:G:A 2283_1753_585_V->M 0.000199681 483 chr16:83781822:G:A 2283_1789_597_V->M 0.000199681 483 chr16:83813584:G:T 2283_1834_612_A->S 0.000199681 483 chr16:83813644:A:G 2283_1894_632_I->V 0.000199681 483 chr16:83813654:C:G 2283_1904_635_T->R 0.000199681 483 chr16:83813689:A:C 2283_1939_647_S->R 0.000399361 483 chr16:83813740:C:A 2283_1990_664_P->T 0.000199681 483 chr16:83813762:A:G 2283_2012_671_K->R 0.000199681 483 chr16:83813806:A:T 2283_2056_686_N->Y 0.000599042 483 chr16:83816871:T:G 2283_2069_690_L->R 0.00239617 483 chr16:83816952:C:T 2283_2150_717_T->M 0.000599042 483 chr16:83817053:C:T 2283_2251_751_L->F 0.000199681 483 chr16:83817060:G:C 2283_2258_753_S->T 0.000798722 483 chr16:83817069:G:C 2283_2267_756_S->T 0.000798722 483 na12878 Variants: 483 chr16:82673047:C:T 2283_163_55_P->S 483 chr16:82892037:A:G 2283_257_86_N->S 483 snyder Variants: 483 chr16:82673047:C:T 2283_163_55_P->S 484 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000051523_ENST00000261623 gene_Name: CY24A_HUMAN 484 list of pdbs: 484 1WLP pdb_description: 04-Oct-05 NMR 1 Solution structure of the p22phox-p47phox complex 484 Zimmer Variants: 484 chr16:88713236:A:G 588_214_72_Y->H 484 HGMD Variants: 484 chr16:88712554:G:T 588_339_113_C->* 484 chr16:88713189:G:T 588_261_87_Y->* 484 chr16:88713189:G:C 588_261_87_Y->* 484 chr16:88714474:C:T 588_107_36_W->* 484 chr16:88717395:C:T 588_27_9_W->* 484 chr16:88717396:C:T 588_26_9_W->* 484 chr16:88717415:G:A 588_7_3_Q->* 484 chr16:88709882:G:T 588_467_156_P->Q 484 chr16:88709964:C:T 588_385_129_E->K 484 chr16:88709976:C:T 588_373_125_A->T 484 chr16:88709978:G:A 588_371_124_A->V 484 chr16:88709979:C:A 588_370_124_A->S 484 chr16:88712539:G:T 588_354_118_S->R 484 chr16:88713169:T:C 588_281_94_H->R 484 chr16:88713181:C:T 588_269_90_R->Q 484 chr16:88713181:C:G 588_269_90_R->P 484 chr16:88713182:G:A 588_268_90_R->W 484 chr16:88713182:G:C 588_268_90_R->G 484 chr16:88713236:A:G 588_214_72_Y->H 484 chr16:88713548:G:C 588_164_55_P->R 484 chr16:88713554:T:A 588_158_53_E->V 484 chr16:88713557:A:G 588_155_52_L->P 484 chr16:88713560:A:T 588_152_51_L->Q 484 chr16:88714507:C:T 588_74_25_G->D 484 chr16:88714507:C:A 588_74_25_G->V 484 chr16:88714510:C:T 588_71_24_G->E 484 chr16:88714511:C:T 588_70_24_G->R 484 chr16:88717420:A:T 588_2_1_M->K 484 oneKG Variants: 484 chr16:88709828:A:G 588_521_174_V->A 0.26258 484 chr16:88709844:C:T 588_505_169_E->K 0.000599042 484 chr16:88709874:G:A 588_475_159_P->S 0.000399361 484 chr16:88709916:C:T 588_433_145_G->R 0.000798722 484 chr16:88709946:C:T 588_403_135_E->K 0.00359425 484 chr16:88709954:G:T 588_395_132_T->K 0.000199681 484 chr16:88712585:A:G 588_308_103_F->S 0.000199681 484 chr16:88712600:G:A 588_293_98_S->L 0.000199681 484 chr16:88713176:C:T 588_274_92_V->I 0.000399361 484 chr16:88713224:C:T 588_226_76_V->M 0.00179712 484 chr16:88713236:A:G 588_214_72_Y->H 0.335663 484 chr16:88713533:T:G 588_179_60_K->T 0.00199681 484 chr16:88713572:A:G 588_140_47_V->A 0.000199681 484 chr16:88714487:G:A 588_94_32_R->C 0.000199681 484 chr16:88717396:C:G 588_26_9_W->S 0.000199681 484 chr16:88717400:T:C 588_22_8_M->V 0.000199681 484 chr16:88717418:C:T 588_4_2_G->R 0.000199681 484 na12878 Variants: 484 chr16:88713236:A:G 588_214_72_Y->H 484 snyder Variants: 484 chr16:88713236:A:G 588_214_72_Y->H 485 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132386_ENST00000254722 gene_Name: PEDF_HUMAN 485 list of pdbs: 485 1IMV pdb_description: 26-Sep-01 X-ray 2.850 2.85 a crystal structure of pedf 485 Zimmer Variants: 485 chr17:1673276:C:T 1257_215_72_T->M 485 HGMD Variants: 485 chr17:1674334:C:T 1257_295_99_R->* 485 chr17:1675258:C:T 1257_532_178_Q->* 485 chr17:1678359:G:A 1257_651_217_W->* 485 chr17:1678404:C:G 1257_696_232_Y->* 485 chr17:1679847:G:T 1257_808_270_G->* 485 chr17:1680615:C:T 1257_1132_378_Q->* 485 chr17:1673276:C:T 1257_215_72_T->M 485 oneKG Variants: 485 chr17:1673212:G:A 1257_151_51_V->M 0.00559105 485 chr17:1673228:C:G 1257_167_56_A->G 0.00139776 485 chr17:1673263:G:C 1257_202_68_V->L 0.000998403 485 chr17:1673276:C:T 1257_215_72_T->M 0.373802 485 chr17:1673285:C:T 1257_224_75_T->M 0.000998403 485 chr17:1673303:C:G 1257_242_81_S->C 0.000399361 485 chr17:1674362:T:C 1257_323_108_L->P 0.000199681 485 chr17:1674434:C:G 1257_395_132_P->R 0.0101837 485 chr17:1674445:C:T 1257_406_136_L->F 0.000199681 485 chr17:1674448:A:G 1257_409_137_K->E 0.000199681 485 chr17:1674466:G:A 1257_427_143_V->I 0.00159744 485 chr17:1674478:A:C 1257_439_147_K->Q 0.000199681 485 chr17:1675172:G:A 1257_446_149_R->H 0.00119808 485 chr17:1675174:A:G 1257_448_150_I->V 0.00658946 485 chr17:1675180:T:C 1257_454_152_S->P 0.000199681 485 chr17:1675252:G:A 1257_526_176_D->N 0.000199681 485 chr17:1675327:G:A 1257_601_201_D->N 0.00119808 485 chr17:1678393:G:A 1257_685_229_E->K 0.000199681 485 chr17:1679865:T:A 1257_826_276_F->I 0.000199681 485 chr17:1679952:C:G 1257_913_305_L->V 0.000399361 485 chr17:1679968:C:T 1257_929_310_A->V 0.000399361 485 chr17:1680487:A:G 1257_1004_335_Q->R 0.000399361 485 chr17:1680523:C:A 1257_1040_347_T->K 0.000199681 485 chr17:1680559:G:A 1257_1076_359_R->Q 0.000199681 485 chr17:1680562:C:T 1257_1079_360_A->V 0.000199681 485 chr17:1680595:C:T 1257_1112_371_T->I 0.000199681 485 chr17:1680654:A:T 1257_1171_391_N->Y 0.000199681 485 chr17:1680660:C:G 1257_1177_393_P->A 0.000998403 485 na12878 Variants: 485 chr17:1673276:C:T 1257_215_72_T->M 485 snyder Variants: 485 chr17:1673276:C:T 1257_215_72_T->M 486 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000176974_ENST00000316694 gene_Name: GLYC_HUMAN 486 list of pdbs: 486 1BJ4 pdb_description: 16-Aug-99 X-ray 2.650 Recombinant serine hydroxymethyltransferase (human) 486 Zimmer Variants: 486 chr17:18232096:G:A 1452_1420_474_L->F 486 HGMD Variants: 486 chr17:18232096:G:A 1452_1420_474_L->F 486 chr17:18232693:C:T 1452_1181_394_S->N 486 oneKG Variants: 486 chr17:18232089:G:C 1452_1427_476_P->R 0.000199681 486 chr17:18232096:G:A 1452_1420_474_L->F 0.227835 486 chr17:18232123:G:A 1452_1393_465_R->W 0.000399361 486 chr17:18232153:C:A 1452_1363_455_D->Y 0.000199681 486 chr17:18232648:G:A 1452_1226_409_T->M 0.000199681 486 chr17:18232669:C:T 1452_1205_402_R->Q 0.000199681 486 chr17:18232693:C:T 1452_1181_394_S->N 0.000399361 486 chr17:18236491:T:C 1452_1043_348_K->R 0.000199681 486 chr17:18236516:C:G 1452_1018_340_E->Q 0.000798722 486 chr17:18236576:T:C 1452_958_320_M->V 0.000199681 486 chr17:18236600:C:T 1452_934_312_V->I 0.000199681 486 chr17:18238908:C:A 1452_896_299_G->V 0.000399361 486 chr17:18243422:A:G 1452_749_250_V->A 0.000199681 486 chr17:18243453:C:T 1452_718_240_V->M 0.000599042 486 chr17:18243507:C:G 1452_664_222_G->R 0.000199681 486 chr17:18243524:T:C 1452_647_216_K->R 0.0151757 486 chr17:18243534:G:A 1452_637_213_R->W 0.00139776 486 chr17:18243555:A:G 1452_616_206_S->P 0.000199681 486 chr17:18244049:C:T 1452_598_200_A->T 0.000199681 486 chr17:18244057:A:G 1452_590_197_L->P 0.000399361 486 chr17:18250861:G:C 1452_468_156_D->E 0.000399361 486 chr17:18250889:C:T 1452_440_147_G->D 0.000599042 486 chr17:18251642:A:T 1452_355_119_S->T 0.000199681 486 chr17:18257032:C:T 1452_196_66_G->S 0.000199681 486 chr17:18257052:C:T 1452_176_59_R->Q 0.000199681 486 chr17:18257070:G:A 1452_158_53_S->L 0.000199681 486 chr17:18257104:T:C 1452_124_42_N->D 0.000199681 486 chr17:18259209:A:T 1452_87_29_S->R 0.000199681 486 chr17:18259294:A:C,T 1452_2_1_M->R 0.000399361 486 chr17:18259294:A:C,T 1452_2_1_M->K 0.000399361 486 na12878 Variants: 486 chr17:18232096:G:A 1452_1420_474_L->F 486 snyder Variants: 486 chr17:18232096:G:A 1452_1420_474_L->F 487 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000176974_ENST00000352886 gene_Name: GLYC_HUMAN 487 list of pdbs: 487 1BJ4 pdb_description: 16-Aug-99 X-ray 2.650 Recombinant serine hydroxymethyltransferase (human) 487 Zimmer Variants: 487 chr17:18232096:G:A 1212_1180_394_L->F 487 HGMD Variants: 487 chr17:18232096:G:A 1212_1180_394_L->F 487 chr17:18232693:C:T 1212_941_314_S->N 487 oneKG Variants: 487 chr17:18232089:G:C 1212_1187_396_P->R 0.000199681 487 chr17:18232096:G:A 1212_1180_394_L->F 0.227835 487 chr17:18232123:G:A 1212_1153_385_R->W 0.000399361 487 chr17:18232153:C:A 1212_1123_375_D->Y 0.000199681 487 chr17:18232648:G:A 1212_986_329_T->M 0.000199681 487 chr17:18232669:C:T 1212_965_322_R->Q 0.000199681 487 chr17:18232693:C:T 1212_941_314_S->N 0.000399361 487 chr17:18243422:A:G 1212_749_250_V->A 0.000199681 487 chr17:18243453:C:T 1212_718_240_V->M 0.000599042 487 chr17:18243507:C:G 1212_664_222_G->R 0.000199681 487 chr17:18243524:T:C 1212_647_216_K->R 0.0151757 487 chr17:18243534:G:A 1212_637_213_R->W 0.00139776 487 chr17:18243555:A:G 1212_616_206_S->P 0.000199681 487 chr17:18244049:C:T 1212_598_200_A->T 0.000199681 487 chr17:18244057:A:G 1212_590_197_L->P 0.000399361 487 chr17:18250861:G:C 1212_468_156_D->E 0.000399361 487 chr17:18250889:C:T 1212_440_147_G->D 0.000599042 487 chr17:18251642:A:T 1212_355_119_S->T 0.000199681 487 chr17:18257032:C:T 1212_196_66_G->S 0.000199681 487 chr17:18257052:C:T 1212_176_59_R->Q 0.000199681 487 chr17:18257070:G:A 1212_158_53_S->L 0.000199681 487 chr17:18257104:T:C 1212_124_42_N->D 0.000199681 487 chr17:18259209:A:T 1212_87_29_S->R 0.000199681 487 chr17:18259294:A:C,T 1212_2_1_M->R 0.000399361 487 chr17:18259294:A:C,T 1212_2_1_M->K 0.000399361 487 na12878 Variants: 487 chr17:18232096:G:A 1212_1180_394_L->F 487 snyder Variants: 487 chr17:18232096:G:A 1212_1180_394_L->F 488 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000176974_ENST00000354098 gene_Name: GLYC_HUMAN 488 list of pdbs: 488 1BJ4 pdb_description: 16-Aug-99 X-ray 2.650 Recombinant serine hydroxymethyltransferase (human) 488 Zimmer Variants: 488 chr17:18232096:G:A 1335_1303_435_L->F 488 HGMD Variants: 488 chr17:18232096:G:A 1335_1303_435_L->F 488 chr17:18232693:C:T 1335_1064_355_S->N 488 oneKG Variants: 488 chr17:18232089:G:C 1335_1310_437_P->R 0.000199681 488 chr17:18232096:G:A 1335_1303_435_L->F 0.227835 488 chr17:18232123:G:A 1335_1276_426_R->W 0.000399361 488 chr17:18232153:C:A 1335_1246_416_D->Y 0.000199681 488 chr17:18232648:G:A 1335_1109_370_T->M 0.000199681 488 chr17:18232669:C:T 1335_1088_363_R->Q 0.000199681 488 chr17:18232693:C:T 1335_1064_355_S->N 0.000399361 488 chr17:18236491:T:C 1335_926_309_K->R 0.000199681 488 chr17:18236516:C:G 1335_901_301_E->Q 0.000798722 488 chr17:18236576:T:C 1335_841_281_M->V 0.000199681 488 chr17:18236600:C:T 1335_817_273_V->I 0.000199681 488 chr17:18243422:A:G 1335_749_250_V->A 0.000199681 488 chr17:18243453:C:T 1335_718_240_V->M 0.000599042 488 chr17:18243507:C:G 1335_664_222_G->R 0.000199681 488 chr17:18243524:T:C 1335_647_216_K->R 0.0151757 488 chr17:18243534:G:A 1335_637_213_R->W 0.00139776 488 chr17:18243555:A:G 1335_616_206_S->P 0.000199681 488 chr17:18244049:C:T 1335_598_200_A->T 0.000199681 488 chr17:18244057:A:G 1335_590_197_L->P 0.000399361 488 chr17:18250861:G:C 1335_468_156_D->E 0.000399361 488 chr17:18250889:C:T 1335_440_147_G->D 0.000599042 488 chr17:18251642:A:T 1335_355_119_S->T 0.000199681 488 chr17:18257032:C:T 1335_196_66_G->S 0.000199681 488 chr17:18257052:C:T 1335_176_59_R->Q 0.000199681 488 chr17:18257070:G:A 1335_158_53_S->L 0.000199681 488 chr17:18257104:T:C 1335_124_42_N->D 0.000199681 488 chr17:18259209:A:T 1335_87_29_S->R 0.000199681 488 chr17:18259294:A:C,T 1335_2_1_M->R 0.000399361 488 chr17:18259294:A:C,T 1335_2_1_M->K 0.000399361 488 na12878 Variants: 488 chr17:18232096:G:A 1335_1303_435_L->F 488 snyder Variants: 488 chr17:18232096:G:A 1335_1303_435_L->F 489 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070366_ENST00000544865 gene_Name: EST1A_HUMAN 489 list of pdbs: 489 2HWX pdb_description: 14-Nov-06 X-ray 1.900 Structure of human smg6 e1282c pin domain mutant. 489 2HWW pdb_description: 14-Nov-06 X-ray 1.800 Structure of pin domain of human smg6 489 2DOK pdb_description: 01-May-07 X-ray 1.800 Crystal structure of the pin domain of human est1a 489 Zimmer Variants: 489 chr17:2091765:C:T 4167_2821_941_A->T 489 chr17:2203025:T:G 4167_929_310_N->T;GENE=SMG6;CDSS=2 489 chr17:2203175:C:G 4167_779_260_R->P;GENE=SMG6;CDSS=2 489 HGMD Variants: 489 chr17:2185956:G:T 4167_2553_851_S->R 489 oneKG Variants: 489 chr17:1964826:C:T 4167_4127_1376_R->Q 0.000199681 489 chr17:1968415:G:A 4167_3988_1330_L->F 0.000199681 489 chr17:1968423:G:A 4167_3980_1327_S->F 0.000199681 489 chr17:1968928:T:C 4167_3788_1263_H->R 0.000399361 489 chr17:1968967:T:C 4167_3749_1250_N->S 0.000199681 489 chr17:1972116:C:T 4167_3698_1233_R->Q 0.00499201 489 chr17:1972147:C:T 4167_3667_1223_G->S 0.000199681 489 chr17:1972209:T:C 4167_3605_1202_H->R 0.00139776 489 chr17:1985204:T:C 4167_3488_1163_E->G 0.000199681 489 chr17:1985205:C:T 4167_3487_1163_E->K 0.000199681 489 chr17:1985210:T:G 4167_3482_1161_E->A 0.00119808 489 chr17:1985220:C:T 4167_3472_1158_E->K 0.0235623 489 chr17:1989027:C:G 4167_3433_1145_E->Q 0.000199681 489 chr17:2075956:T:G 4167_3260_1087_D->A 0.000399361 489 chr17:2090036:C:T 4167_2983_995_V->I 0.000199681 489 chr17:2091695:T:C 4167_2891_964_K->R 0.000199681 489 chr17:2091726:G:A 4167_2860_954_R->C 0.000199681 489 chr17:2091729:G:A 4167_2857_953_R->C 0.0385383 489 chr17:2091765:C:T 4167_2821_941_A->T 0.403754 489 chr17:2091789:G:A 4167_2797_933_R->C 0.000199681 489 chr17:2139822:T:C 4167_2740_914_I->V 0.000199681 489 chr17:2139864:G:C 4167_2698_900_P->A 0.000199681 489 chr17:2139924:T:C 4167_2638_880_T->A 0.000798722 489 chr17:2147958:C:T 4167_2624_875_R->Q 0.000199681 489 chr17:2147998:T:C 4167_2584_862_I->V 0.000199681 489 chr17:2185956:G:T 4167_2553_851_S->R 0.00159744 489 chr17:2186071:C:T 4167_2438_813_R->Q 0.000199681 489 chr17:2186125:T:A 4167_2384_795_E->V 0.000199681 489 chr17:2186937:A:C 4167_2337_779_F->L 0.000199681 489 chr17:2196238:T:A 4167_2092_698_M->L 0.000199681 489 chr17:2196267:T:C 4167_2063_688_K->R 0.000199681 489 chr17:2201177:G:T 4167_1927_643_L->I 0.000199681 489 chr17:2202323:T:C 4167_1631_544_N->S 0.0159744 489 chr17:2202333:G:A 4167_1621_541_H->Y 0.000199681 489 chr17:2202348:C:G 4167_1606_536_E->Q 0.000399361 489 chr17:2202357:T:C 4167_1597_533_M->V 0.000199681 489 chr17:2202425:C:T 4167_1529_510_G->E 0.000199681 489 chr17:2202479:G:A 4167_1475_492_T->M 0.000199681 489 chr17:2202480:T:C 4167_1474_492_T->A 0.00199681 489 chr17:2202513:G:A 4167_1441_481_R->W 0.000199681 489 chr17:2202635:G:A 4167_1319_440_T->M 0.000199681 489 chr17:2202686:C:T 4167_1268_423_R->Q 0.000199681 489 chr17:2202749:C:T 4167_1205_402_R->Q 0.000599042 489 chr17:2202764:G:A 4167_1190_397_A->V 0.000199681 489 chr17:2202765:C:T 4167_1189_397_A->T 0.000199681 489 chr17:2202836:C:T 4167_1118_373_R->H 0.0125799 489 chr17:2202872:T:G 4167_1082_361_Q->P 0.000199681 489 chr17:2202911:T:C 4167_1043_348_D->G 0.000399361 489 chr17:2202947:C:A 4167_1007_336_R->M 0.000199681 489 chr17:2202954:T:C 4167_1000_334_M->V 0.000199681 489 chr17:2202974:G:C 4167_980_327_A->G 0.000199681 489 chr17:2202999:G:C 4167_955_319_L->V 0.000399361 489 chr17:2203025:T:G 4167_929_310_N->T 0.229433 489 chr17:2203057:G:C 4167_897_299_N->K 0.000399361 489 chr17:2203071:G:T 4167_883_295_H->N 0.000399361 489 chr17:2203109:T:C 4167_845_282_D->G 0.0117812 489 chr17:2203161:C:A 4167_793_265_V->L 0.000199681 489 chr17:2203167:T:G 4167_787_263_K->Q 0.401358 489 chr17:2203175:C:G 4167_779_260_R->P 0.184704 489 chr17:2203214:C:A 4167_740_247_C->F 0.000199681 489 chr17:2203221:T:C 4167_733_245_N->D 0.00898562 489 chr17:2203223:T:C 4167_731_244_D->G 0.000199681 489 chr17:2203275:T:A 4167_679_227_S->C 0.000199681 489 chr17:2203277:C:G 4167_677_226_R->P 0.000199681 489 chr17:2203290:G:A 4167_664_222_R->C 0.000199681 489 chr17:2203310:C:T 4167_644_215_R->H 0.000199681 489 chr17:2203329:A:T 4167_625_209_S->T 0.000199681 489 chr17:2203335:G:A 4167_619_207_P->S 0.000199681 489 chr17:2203349:G:A 4167_605_202_P->L 0.000199681 489 chr17:2203356:C:G 4167_598_200_D->H 0.0221645 489 chr17:2203472:G:C 4167_482_161_A->G 0.000199681 489 chr17:2203506:C:T 4167_448_150_E->K 0.000599042 489 chr17:2203527:G:T 4167_427_143_Q->K 0.000998403 489 chr17:2203569:C:A 4167_385_129_A->S 0.000199681 489 chr17:2203610:T:C 4167_344_115_Y->C 0.000199681 489 chr17:2203614:T:G 4167_340_114_I->L 0.000199681 489 chr17:2203660:A:T 4167_294_98_D->E 0.000199681 489 chr17:2203712:G:A 4167_242_81_P->L 0.000199681 489 chr17:2203772:T:A 4167_182_61_Q->L 0.000399361 489 chr17:2203775:G:A 4167_179_60_T->I 0.000399361 489 chr17:2203841:G:A 4167_113_38_P->L 0.000199681 489 chr17:2203845:G:A 4167_109_37_P->S 0.000199681 489 chr17:2203860:G:T 4167_94_32_P->T 0.000199681 489 chr17:2203928:G:A 4167_26_9_P->L 0.000199681 489 chr17:2203951:C:T 4167_3_1_M->I 0.000199681 489 na12878 Variants: 489 chr17:2203025:T:G 4167_929_310_N->T 489 chr17:2203167:T:G 4167_787_263_K->Q 489 chr17:2203175:C:G 4167_779_260_R->P 489 snyder Variants: 489 chr17:2203025:T:G 4167_929_310_N->T 489 chr17:2203175:C:G 4167_779_260_R->P 490 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000070366_ENST00000263073 gene_Name: EST1A_HUMAN 490 list of pdbs: 490 2HWX pdb_description: 14-Nov-06 X-ray 1.900 Structure of human smg6 e1282c pin domain mutant. 490 2HWW pdb_description: 14-Nov-06 X-ray 1.800 Structure of pin domain of human smg6 490 2DOK pdb_description: 01-May-07 X-ray 1.800 Crystal structure of the pin domain of human est1a 490 Zimmer Variants: 490 chr17:2091765:C:T 4260_2914_972_A->T 490 chr17:2203025:T:G 4260_1022_341_N->T 490 chr17:2203175:C:G 4260_872_291_R->P 490 HGMD Variants: 490 chr17:2185956:G:T 4260_2646_882_S->R 490 oneKG Variants: 490 chr17:1964826:C:T 4260_4220_1407_R->Q 0.000199681 490 chr17:1968415:G:A 4260_4081_1361_L->F 0.000199681 490 chr17:1968423:G:A 4260_4073_1358_S->F 0.000199681 490 chr17:1968928:T:C 4260_3881_1294_H->R 0.000399361 490 chr17:1968967:T:C 4260_3842_1281_N->S 0.000199681 490 chr17:1972116:C:T 4260_3791_1264_R->Q 0.00499201 490 chr17:1972147:C:T 4260_3760_1254_G->S 0.000199681 490 chr17:1972209:T:C 4260_3698_1233_H->R 0.00139776 490 chr17:1985204:T:C 4260_3581_1194_E->G 0.000199681 490 chr17:1985205:C:T 4260_3580_1194_E->K 0.000199681 490 chr17:1985210:T:G 4260_3575_1192_E->A 0.00119808 490 chr17:1985220:C:T 4260_3565_1189_E->K 0.0235623 490 chr17:1989027:C:G 4260_3526_1176_E->Q 0.000199681 490 chr17:2075956:T:G 4260_3353_1118_D->A 0.000399361 490 chr17:2090036:C:T 4260_3076_1026_V->I 0.000199681 490 chr17:2091695:T:C 4260_2984_995_K->R 0.000199681 490 chr17:2091726:G:A 4260_2953_985_R->C 0.000199681 490 chr17:2091729:G:A 4260_2950_984_R->C 0.0385383 490 chr17:2091765:C:T 4260_2914_972_A->T 0.403754 490 chr17:2091789:G:A 4260_2890_964_R->C 0.000199681 490 chr17:2139822:T:C 4260_2833_945_I->V 0.000199681 490 chr17:2139864:G:C 4260_2791_931_P->A 0.000199681 490 chr17:2139924:T:C 4260_2731_911_T->A 0.000798722 490 chr17:2147958:C:T 4260_2717_906_R->Q 0.000199681 490 chr17:2147998:T:C 4260_2677_893_I->V 0.000199681 490 chr17:2185956:G:T 4260_2646_882_S->R 0.00159744 490 chr17:2186071:C:T 4260_2531_844_R->Q 0.000199681 490 chr17:2186125:T:A 4260_2477_826_E->V 0.000199681 490 chr17:2186937:A:C 4260_2430_810_F->L 0.000199681 490 chr17:2196238:T:A 4260_2185_729_M->L 0.000199681 490 chr17:2196267:T:C 4260_2156_719_K->R 0.000199681 490 chr17:2201177:G:T 4260_2020_674_L->I 0.000199681 490 chr17:2202323:T:C 4260_1724_575_N->S 0.0159744 490 chr17:2202333:G:A 4260_1714_572_H->Y 0.000199681 490 chr17:2202348:C:G 4260_1699_567_E->Q 0.000399361 490 chr17:2202357:T:C 4260_1690_564_M->V 0.000199681 490 chr17:2202425:C:T 4260_1622_541_G->E 0.000199681 490 chr17:2202479:G:A 4260_1568_523_T->M 0.000199681 490 chr17:2202480:T:C 4260_1567_523_T->A 0.00199681 490 chr17:2202513:G:A 4260_1534_512_R->W 0.000199681 490 chr17:2202635:G:A 4260_1412_471_T->M 0.000199681 490 chr17:2202686:C:T 4260_1361_454_R->Q 0.000199681 490 chr17:2202749:C:T 4260_1298_433_R->Q 0.000599042 490 chr17:2202764:G:A 4260_1283_428_A->V 0.000199681 490 chr17:2202765:C:T 4260_1282_428_A->T 0.000199681 490 chr17:2202836:C:T 4260_1211_404_R->H 0.0125799 490 chr17:2202872:T:G 4260_1175_392_Q->P 0.000199681 490 chr17:2202911:T:C 4260_1136_379_D->G 0.000399361 490 chr17:2202947:C:A 4260_1100_367_R->M 0.000199681 490 chr17:2202954:T:C 4260_1093_365_M->V 0.000199681 490 chr17:2202974:G:C 4260_1073_358_A->G 0.000199681 490 chr17:2202999:G:C 4260_1048_350_L->V 0.000399361 490 chr17:2203025:T:G 4260_1022_341_N->T 0.229433 490 chr17:2203057:G:C 4260_990_330_N->K 0.000399361 490 chr17:2203071:G:T 4260_976_326_H->N 0.000399361 490 chr17:2203109:T:C 4260_938_313_D->G 0.0117812 490 chr17:2203161:C:A 4260_886_296_V->L 0.000199681 490 chr17:2203167:T:G 4260_880_294_K->Q 0.401358 490 chr17:2203175:C:G 4260_872_291_R->P 0.184704 490 chr17:2203214:C:A 4260_833_278_C->F 0.000199681 490 chr17:2203221:T:C 4260_826_276_N->D 0.00898562 490 chr17:2203223:T:C 4260_824_275_D->G 0.000199681 490 chr17:2203275:T:A 4260_772_258_S->C 0.000199681 490 chr17:2203277:C:G 4260_770_257_R->P 0.000199681 490 chr17:2203290:G:A 4260_757_253_R->C 0.000199681 490 chr17:2203310:C:T 4260_737_246_R->H 0.000199681 490 chr17:2203329:A:T 4260_718_240_S->T 0.000199681 490 chr17:2203335:G:A 4260_712_238_P->S 0.000199681 490 chr17:2203349:G:A 4260_698_233_P->L 0.000199681 490 chr17:2203356:C:G 4260_691_231_D->H 0.0221645 490 chr17:2203472:G:C 4260_575_192_A->G 0.000199681 490 chr17:2203506:C:T 4260_541_181_E->K 0.000599042 490 chr17:2203527:G:T 4260_520_174_Q->K 0.000998403 490 chr17:2203569:C:A 4260_478_160_A->S 0.000199681 490 chr17:2203610:T:C 4260_437_146_Y->C 0.000199681 490 chr17:2203614:T:G 4260_433_145_I->L 0.000199681 490 chr17:2203660:A:T 4260_387_129_D->E 0.000199681 490 chr17:2203712:G:A 4260_335_112_P->L 0.000199681 490 chr17:2203772:T:A 4260_275_92_Q->L 0.000399361 490 chr17:2203775:G:A 4260_272_91_T->I 0.000399361 490 chr17:2203841:G:A 4260_206_69_P->L 0.000199681 490 chr17:2203845:G:A 4260_202_68_P->S 0.000199681 490 chr17:2203860:G:T 4260_187_63_P->T 0.000199681 490 chr17:2203928:G:A 4260_119_40_P->L 0.000199681 490 chr17:2203951:C:T 4260_96_32_M->I 0.000199681 490 chr17:2206936:C:T 4260_79_27_G->R 0.000199681 490 chr17:2206996:G:T 4260_19_7_R->S 0.000399361 490 na12878 Variants: 490 chr17:2203025:T:G 4260_1022_341_N->T 490 chr17:2203167:T:G 4260_880_294_K->Q 490 chr17:2203175:C:G 4260_872_291_R->P 490 snyder Variants: 490 chr17:2203025:T:G 4260_1022_341_N->T 490 chr17:2203175:C:G 4260_872_291_R->P 491 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136436_ENST00000258947 gene_Name: CACO2_HUMAN 491 list of pdbs: 491 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 491 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 491 3VVW pdb_description: 27-Feb-13 X-ray 2.500 Ndp52 in complex with lc3c 491 3VVV pdb_description: 27-Feb-13 X-ray 1.350 Skich domain of ndp52 491 Zimmer Variants: 491 chr17:46939658:C:G 1341_1165_389_P->A 491 HGMD Variants: 491 chr17:46929908:T:C 1341_743_248_V->A 491 oneKG Variants: 491 chr17:46925493:A:G 1341_248_83_N->S 0.000199681 491 chr17:46925513:G:A 1341_268_90_E->K 0.000199681 491 chr17:46925741:G:C 1341_341_114_G->A 0.00119808 491 chr17:46925777:G:A 1341_377_126_R->H 0.000998403 491 chr17:46926615:G:A 1341_419_140_G->E 0.243211 491 chr17:46926719:G:A 1341_523_175_A->T 0.000199681 491 chr17:46926720:C:T 1341_524_175_A->V 0.000199681 491 chr17:46928952:G:A 1341_664_222_E->K 0.00199681 491 chr17:46928967:G:A 1341_679_227_G->R 0.000798722 491 chr17:46929908:T:C 1341_743_248_V->A 0.150958 491 chr17:46929982:A:G 1341_817_273_T->A 0.000399361 491 na12878 Variants: 491 chr17:46939658:C:G 1341_1165_389_P->A 491 snyder Variants: 491 chr17:46939658:C:G 1341_1165_389_P->A 492 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136436_ENST00000509507 gene_Name: CACO2_HUMAN 492 list of pdbs: 492 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 492 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 492 3VVW pdb_description: 27-Feb-13 X-ray 2.500 Ndp52 in complex with lc3c 492 3VVV pdb_description: 27-Feb-13 X-ray 1.350 Skich domain of ndp52 492 Zimmer Variants: 492 chr17:46939658:C:G 1404_1228_410_P->A 492 HGMD Variants: 492 chr17:46929908:T:C 1404_806_269_V->A 492 oneKG Variants: 492 chr17:46925493:A:G 1404_311_104_N->S 0.000199681 492 chr17:46925513:G:A 1404_331_111_E->K 0.000199681 492 chr17:46925741:G:C 1404_404_135_G->A 0.00119808 492 chr17:46925777:G:A 1404_440_147_R->H 0.000998403 492 chr17:46926615:G:A 1404_482_161_G->E 0.243211 492 chr17:46926719:G:A 1404_586_196_A->T 0.000199681 492 chr17:46926720:C:T 1404_587_196_A->V 0.000199681 492 chr17:46928952:G:A 1404_727_243_E->K 0.00199681 492 chr17:46928967:G:A 1404_742_248_G->R 0.000798722 492 chr17:46929908:T:C 1404_806_269_V->A 0.150958 492 chr17:46929982:A:G 1404_880_294_T->A 0.000399361 492 na12878 Variants: 492 chr17:46939658:C:G 1404_1228_410_P->A 492 snyder Variants: 492 chr17:46939658:C:G 1404_1228_410_P->A 493 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136436_ENST00000448105 gene_Name: CACO2_HUMAN 493 list of pdbs: 493 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 493 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 493 3VVW pdb_description: 27-Feb-13 X-ray 2.500 Ndp52 in complex with lc3c 493 3VVV pdb_description: 27-Feb-13 X-ray 1.350 Skich domain of ndp52 493 Zimmer Variants: 493 chr17:46939658:C:G 1413_1237_413_P->A 493 HGMD Variants: 493 chr17:46929908:T:C 1413_815_272_V->A 493 oneKG Variants: 493 chr17:46923832:G:A 1413_208_70_E->K 0.0151757 493 chr17:46925493:A:G 1413_320_107_N->S 0.000199681 493 chr17:46925513:G:A 1413_340_114_E->K 0.000199681 493 chr17:46925741:G:C 1413_413_138_G->A 0.00119808 493 chr17:46925777:G:A 1413_449_150_R->H 0.000998403 493 chr17:46926615:G:A 1413_491_164_G->E 0.243211 493 chr17:46926719:G:A 1413_595_199_A->T 0.000199681 493 chr17:46926720:C:T 1413_596_199_A->V 0.000199681 493 chr17:46928952:G:A 1413_736_246_E->K 0.00199681 493 chr17:46928967:G:A 1413_751_251_G->R 0.000798722 493 chr17:46929908:T:C 1413_815_272_V->A 0.150958 493 chr17:46929982:A:G 1413_889_297_T->A 0.000399361 493 na12878 Variants: 493 chr17:46939658:C:G 1413_1237_413_P->A 493 snyder Variants: 493 chr17:46939658:C:G 1413_1237_413_P->A 494 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136436_ENST00000416445 gene_Name: CACO2_HUMAN 494 list of pdbs: 494 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 494 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 494 3VVW pdb_description: 27-Feb-13 X-ray 2.500 Ndp52 in complex with lc3c 494 3VVV pdb_description: 27-Feb-13 X-ray 1.350 Skich domain of ndp52 494 Zimmer Variants: 494 chr17:46939658:C:G 1215_1039_347_P->A 494 HGMD Variants: 494 chr17:46929908:T:C 1215_617_206_V->A 494 oneKG Variants: 494 chr17:46925493:A:G 1215_248_83_N->S 0.000199681 494 chr17:46925513:G:A 1215_268_90_E->K 0.000199681 494 chr17:46925741:G:C 1215_341_114_G->A 0.00119808 494 chr17:46925777:G:A 1215_377_126_R->H 0.000998403 494 chr17:46928952:G:A 1215_538_180_E->K 0.00199681 494 chr17:46928967:G:A 1215_553_185_G->R 0.000798722 494 chr17:46929908:T:C 1215_617_206_V->A 0.150958 494 chr17:46929982:A:G 1215_691_231_T->A 0.000399361 494 na12878 Variants: 494 chr17:46939658:C:G 1215_1039_347_P->A 494 snyder Variants: 494 chr17:46939658:C:G 1215_1039_347_P->A 495 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136436_ENST00000508679 gene_Name: CACO2_HUMAN 495 list of pdbs: 495 4HAN pdb_description: 20-Mar-13 X-ray 2.550 Crystal structure of galectin 8 with ndp52 peptide 495 4GXL pdb_description: 08-May-13 X-ray 2.020 The crystal structure of galectin-8 c-crd in complex with nd 495 3VVW pdb_description: 27-Feb-13 X-ray 2.500 Ndp52 in complex with lc3c 495 3VVV pdb_description: 27-Feb-13 X-ray 1.350 Skich domain of ndp52 495 Zimmer Variants: 495 chr17:46939658:C:G 1125_949_317_P->A;HUB=PPI;GENE=CALCOCO2;CDSS=2 495 HGMD Variants: 495 chr17:46929908:T:C 1125_527_176_V->A 495 oneKG Variants: 495 chr17:46925493:A:G 1125_32_11_N->S 0.000199681 495 chr17:46925513:G:A 1125_52_18_E->K 0.000199681 495 chr17:46925741:G:C 1125_125_42_G->A 0.00119808 495 chr17:46925777:G:A 1125_161_54_R->H 0.000998403 495 chr17:46926615:G:A 1125_203_68_G->E 0.243211 495 chr17:46926719:G:A 1125_307_103_A->T 0.000199681 495 chr17:46926720:C:T 1125_308_103_A->V 0.000199681 495 chr17:46928952:G:A 1125_448_150_E->K 0.00199681 495 chr17:46928967:G:A 1125_463_155_G->R 0.000798722 495 chr17:46929908:T:C 1125_527_176_V->A 0.150958 495 chr17:46929982:A:G 1125_601_201_T->A 0.000399361 495 na12878 Variants: 495 chr17:46939658:C:G 1125_949_317_P->A 495 snyder Variants: 495 chr17:46939658:C:G 1125_949_317_P->A 496 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154920_ENST00000338165 gene_Name: EME1_HUMAN 496 list of pdbs: 496 2ZIX pdb_description: 29-Apr-08 X-ray 3.500 Crystal structure of the mus81-eme1 complex 496 2ZIW pdb_description: 29-Apr-08 X-ray 2.800 Crystal structure of the mus81-eme1 complex 496 2ZIV pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 496 2ZIU pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 496 Zimmer Variants: 496 chr17:48452776:A:C 1713_207_69_E->D 496 HGMD Variants: 496 chr17:48456193:T:C 1713_1049_350_I->T 496 oneKG Variants: 496 chr17:48452876:A:T 1713_307_103_K->* 0.000199681 496 chr17:48456496:C:T 1713_1141_381_Q->* 0.000399361 496 chr17:48452576:C:G 1713_7_3_L->V 0.000199681 496 chr17:48452584:G:T 1713_15_5_K->N 0.0125799 496 chr17:48452607:G:C 1713_38_13_G->A 0.000199681 496 chr17:48452661:C:T 1713_92_31_S->F 0.000199681 496 chr17:48452679:A:G 1713_110_37_Q->R 0.000199681 496 chr17:48452714:A:G 1713_145_49_I->V 0.0461262 496 chr17:48452756:T:C 1713_187_63_F->L 0.024361 496 chr17:48452766:C:T 1713_197_66_P->L 0.000199681 496 chr17:48452776:A:C 1713_207_69_E->D 0.254593 496 chr17:48452909:G:A 1713_340_114_D->N 0.000399361 496 chr17:48452949:A:G 1713_380_127_N->S 0.000199681 496 chr17:48453136:T:A 1713_567_189_N->K 0.00259585 496 chr17:48453171:C:T 1713_602_201_P->L 0.000399361 496 chr17:48453202:C:A 1713_633_211_H->Q 0.00219649 496 chr17:48453219:G:A 1713_650_217_R->K 0.00678914 496 chr17:48453303:C:A 1713_734_245_P->Q 0.00119808 496 chr17:48453328:T:G 1713_759_253_I->M 0.000199681 496 chr17:48453429:C:T 1713_778_260_L->F 0.000199681 496 chr17:48453487:G:A 1713_836_279_R->H 0.000199681 496 chr17:48453496:T:C 1713_845_282_I->T 0.000199681 496 chr17:48455983:A:G 1713_931_311_T->A 0.000199681 496 chr17:48456002:G:A 1713_950_317_R->Q 0.000399361 496 chr17:48456028:G:A 1713_976_326_D->N 0.00239617 496 chr17:48456140:C:G 1713_996_332_S->R 0.000199681 496 chr17:48456183:G:A 1713_1039_347_V->I 0.00479233 496 chr17:48456193:T:C 1713_1049_350_I->T 0.142572 496 chr17:48456247:A:T 1713_1103_368_K->I 0.000199681 496 chr17:48456520:A:C 1713_1165_389_K->Q 0.000399361 496 chr17:48456559:A:G 1713_1204_402_M->V 0.000199681 496 chr17:48456849:G:A 1713_1267_423_A->T 0.000199681 496 chr17:48456927:A:G 1713_1345_449_K->E 0.000199681 496 chr17:48457722:G:C 1713_1396_466_A->P 0.028155 496 chr17:48458143:C:T 1713_1556_519_S->L 0.000199681 496 chr17:48458184:C:T 1713_1597_533_R->C 0.0255591 496 chr17:48458188:G:A 1713_1601_534_R->H 0.000998403 496 chr17:48458214:C:T 1713_1627_543_R->C 0.000199681 496 chr17:48458239:G:A 1713_1652_551_R->K 0.00199681 496 chr17:48458241:C:T 1713_1654_552_R->C 0.00898562 496 chr17:48458242:G:C 1713_1655_552_R->P 0.000199681 496 chr17:48458289:A:C 1713_1702_568_S->R 0.000199681 496 na12878 Variants: 496 chr17:48456193:T:C 1713_1049_350_I->T 496 chr17:48452776:A:C 1713_207_69_E->D 496 snyder Variants: 496 chr17:48456193:T:C 1713_1049_350_I->T 496 chr17:48452776:A:C 1713_207_69_E->D 497 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154920_ENST00000393271 gene_Name: EME1_HUMAN 497 list of pdbs: 497 2ZIX pdb_description: 29-Apr-08 X-ray 3.500 Crystal structure of the mus81-eme1 complex 497 2ZIW pdb_description: 29-Apr-08 X-ray 2.800 Crystal structure of the mus81-eme1 complex 497 2ZIV pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 497 2ZIU pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 497 Zimmer Variants: 497 chr17:48452776:A:C 1752_207_69_E->D 497 HGMD Variants: 497 chr17:48456193:T:C 1752_1049_350_I->T 497 oneKG Variants: 497 chr17:48452876:A:T 1752_307_103_K->* 0.000199681 497 chr17:48456496:C:T 1752_1180_394_Q->* 0.000399361 497 chr17:48452576:C:G 1752_7_3_L->V 0.000199681 497 chr17:48452584:G:T 1752_15_5_K->N 0.0125799 497 chr17:48452607:G:C 1752_38_13_G->A 0.000199681 497 chr17:48452661:C:T 1752_92_31_S->F 0.000199681 497 chr17:48452679:A:G 1752_110_37_Q->R 0.000199681 497 chr17:48452714:A:G 1752_145_49_I->V 0.0461262 497 chr17:48452756:T:C 1752_187_63_F->L 0.024361 497 chr17:48452766:C:T 1752_197_66_P->L 0.000199681 497 chr17:48452776:A:C 1752_207_69_E->D 0.254593 497 chr17:48452909:G:A 1752_340_114_D->N 0.000399361 497 chr17:48452949:A:G 1752_380_127_N->S 0.000199681 497 chr17:48453136:T:A 1752_567_189_N->K 0.00259585 497 chr17:48453171:C:T 1752_602_201_P->L 0.000399361 497 chr17:48453202:C:A 1752_633_211_H->Q 0.00219649 497 chr17:48453219:G:A 1752_650_217_R->K 0.00678914 497 chr17:48453303:C:A 1752_734_245_P->Q 0.00119808 497 chr17:48453328:T:G 1752_759_253_I->M 0.000199681 497 chr17:48453429:C:T 1752_778_260_L->F 0.000199681 497 chr17:48453487:G:A 1752_836_279_R->H 0.000199681 497 chr17:48453496:T:C 1752_845_282_I->T 0.000199681 497 chr17:48455983:A:G 1752_931_311_T->A 0.000199681 497 chr17:48456002:G:A 1752_950_317_R->Q 0.000399361 497 chr17:48456028:G:A 1752_976_326_D->N 0.00239617 497 chr17:48456140:C:G 1752_996_332_S->R 0.000199681 497 chr17:48456183:G:A 1752_1039_347_V->I 0.00479233 497 chr17:48456193:T:C 1752_1049_350_I->T 0.142572 497 chr17:48456247:A:T 1752_1103_368_K->I 0.000199681 497 chr17:48456430:C:G 1752_1114_372_L->V 0.000199681 497 chr17:48456520:A:C 1752_1204_402_K->Q 0.000399361 497 chr17:48456559:A:G 1752_1243_415_M->V 0.000199681 497 chr17:48456849:G:A 1752_1306_436_A->T 0.000199681 497 chr17:48456927:A:G 1752_1384_462_K->E 0.000199681 497 chr17:48457722:G:C 1752_1435_479_A->P 0.028155 497 chr17:48458143:C:T 1752_1595_532_S->L 0.000199681 497 chr17:48458184:C:T 1752_1636_546_R->C 0.0255591 497 chr17:48458188:G:A 1752_1640_547_R->H 0.000998403 497 chr17:48458214:C:T 1752_1666_556_R->C 0.000199681 497 chr17:48458239:G:A 1752_1691_564_R->K 0.00199681 497 chr17:48458241:C:T 1752_1693_565_R->C 0.00898562 497 chr17:48458242:G:C 1752_1694_565_R->P 0.000199681 497 chr17:48458289:A:C 1752_1741_581_S->R 0.000199681 497 na12878 Variants: 497 chr17:48456193:T:C 1752_1049_350_I->T 497 chr17:48452776:A:C 1752_207_69_E->D 497 snyder Variants: 497 chr17:48456193:T:C 1752_1049_350_I->T 497 chr17:48452776:A:C 1752_207_69_E->D 498 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154920_ENST00000511648 gene_Name: EME1_HUMAN 498 list of pdbs: 498 2ZIX pdb_description: 29-Apr-08 X-ray 3.500 Crystal structure of the mus81-eme1 complex 498 2ZIW pdb_description: 29-Apr-08 X-ray 2.800 Crystal structure of the mus81-eme1 complex 498 2ZIV pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 498 2ZIU pdb_description: 29-Apr-08 X-ray 2.700 Crystal structure of the mus81-eme1 complex 498 Zimmer Variants: 498 chr17:48452776:A:C 1752_207_69_E->D 498 HGMD Variants: 498 chr17:48456193:T:C 1752_1049_350_I->T 498 oneKG Variants: 498 chr17:48452876:A:T 1752_307_103_K->* 0.000199681 498 chr17:48456496:C:T 1752_1180_394_Q->* 0.000399361 498 chr17:48452576:C:G 1752_7_3_L->V 0.000199681 498 chr17:48452584:G:T 1752_15_5_K->N 0.0125799 498 chr17:48452607:G:C 1752_38_13_G->A 0.000199681 498 chr17:48452661:C:T 1752_92_31_S->F 0.000199681 498 chr17:48452679:A:G 1752_110_37_Q->R 0.000199681 498 chr17:48452714:A:G 1752_145_49_I->V 0.0461262 498 chr17:48452756:T:C 1752_187_63_F->L 0.024361 498 chr17:48452766:C:T 1752_197_66_P->L 0.000199681 498 chr17:48452776:A:C 1752_207_69_E->D 0.254593 498 chr17:48452909:G:A 1752_340_114_D->N 0.000399361 498 chr17:48452949:A:G 1752_380_127_N->S 0.000199681 498 chr17:48453136:T:A 1752_567_189_N->K 0.00259585 498 chr17:48453171:C:T 1752_602_201_P->L 0.000399361 498 chr17:48453202:C:A 1752_633_211_H->Q 0.00219649 498 chr17:48453219:G:A 1752_650_217_R->K 0.00678914 498 chr17:48453303:C:A 1752_734_245_P->Q 0.00119808 498 chr17:48453328:T:G 1752_759_253_I->M 0.000199681 498 chr17:48453429:C:T 1752_778_260_L->F 0.000199681 498 chr17:48453487:G:A 1752_836_279_R->H 0.000199681 498 chr17:48453496:T:C 1752_845_282_I->T 0.000199681 498 chr17:48455983:A:G 1752_931_311_T->A 0.000199681 498 chr17:48456002:G:A 1752_950_317_R->Q 0.000399361 498 chr17:48456028:G:A 1752_976_326_D->N 0.00239617 498 chr17:48456140:C:G 1752_996_332_S->R 0.000199681 498 chr17:48456183:G:A 1752_1039_347_V->I 0.00479233 498 chr17:48456193:T:C 1752_1049_350_I->T 0.142572 498 chr17:48456247:A:T 1752_1103_368_K->I 0.000199681 498 chr17:48456430:C:G 1752_1114_372_L->V 0.000199681 498 chr17:48456520:A:C 1752_1204_402_K->Q 0.000399361 498 chr17:48456559:A:G 1752_1243_415_M->V 0.000199681 498 chr17:48456849:G:A 1752_1306_436_A->T 0.000199681 498 chr17:48456927:A:G 1752_1384_462_K->E 0.000199681 498 chr17:48457722:G:C 1752_1435_479_A->P 0.028155 498 chr17:48458143:C:T 1752_1595_532_S->L 0.000199681 498 chr17:48458184:C:T 1752_1636_546_R->C 0.0255591 498 chr17:48458188:G:A 1752_1640_547_R->H 0.000998403 498 chr17:48458214:C:T 1752_1666_556_R->C 0.000199681 498 chr17:48458239:G:A 1752_1691_564_R->K 0.00199681 498 chr17:48458241:C:T 1752_1693_565_R->C 0.00898562 498 chr17:48458242:G:C 1752_1694_565_R->P 0.000199681 498 chr17:48458289:A:C 1752_1741_581_S->R 0.000199681 498 na12878 Variants: 498 chr17:48456193:T:C 1752_1049_350_I->T 498 chr17:48452776:A:C 1752_207_69_E->D 498 snyder Variants: 498 chr17:48456193:T:C 1752_1049_350_I->T 498 chr17:48452776:A:C 1752_207_69_E->D 499 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000108839_ENST00000251535 gene_Name: LOX12_HUMAN 499 list of pdbs: 499 3D3L pdb_description: 09-Sep-08 X-ray 2.600 The 2.6 a crystal structure of the lipoxygenase domain of human arachidonate 12-lipoxygenase, 12s-type (casp target) 499 2ABU pdb_description: 02-Aug-05 Theoret model Human 12-lipoxygenase 499 Zimmer Variants: 499 chr17:6901889:A:C 1992_399_133_K->N;GNEG=Yes;GENE=ALOX12;CDSS=2 499 chr17:6902760:A:G 1992_782_261_Q->R;GNEG=Yes;GENE=ALOX12;CDSS=2 499 chr17:6904934:A:G 1992_965_322_N->S;GNEG=Yes;GENE=ALOX12;CDSS=2 499 HGMD Variants: 499 chr17:6902760:A:G 1992_782_261_Q->R 499 oneKG Variants: 499 chr17:6899479:T:C 1992_43_15_F->L 0.000199681 499 chr17:6899500:G:T 1992_64_22_V->L 0.000599042 499 chr17:6899527:G:C 1992_91_31_G->R 0.000599042 499 chr17:6900166:G:A 1992_157_53_V->I 0.000199681 499 chr17:6900175:G:C 1992_166_56_D->H 0.000199681 499 chr17:6901831:G:T 1992_341_114_R->L 0.000199681 499 chr17:6901839:G:C 1992_349_117_G->R 0.00179712 499 chr17:6901889:A:C 1992_399_133_K->N 0.000399361 499 chr17:6901890:G:C 1992_400_134_D->H 0.00579073 499 chr17:6902071:G:A 1992_457_153_A->T 0.000199681 499 chr17:6902127:G:T 1992_513_171_R->S 0.000599042 499 chr17:6902295:G:A 1992_566_189_R->H 0.00638978 499 chr17:6902655:A:C 1992_677_226_E->A 0.000199681 499 chr17:6902671:G:C 1992_693_231_Q->H 0.000199681 499 chr17:6902760:A:G 1992_782_261_Q->R 0.395966 499 chr17:6903691:G:C 1992_844_282_D->H 0.000199681 499 chr17:6903716:G:A 1992_869_290_R->Q 0.000199681 499 chr17:6903772:G:A 1992_925_309_G->R 0.000199681 499 chr17:6904934:A:G 1992_965_322_N->S 0.341254 499 chr17:6904979:C:T 1992_1010_337_P->L 0.000599042 499 chr17:6905060:C:T 1992_1091_364_T->I 0.000199681 499 chr17:6908624:C:T 1992_1210_404_R->W 0.000199681 499 chr17:6908625:G:A 1992_1211_404_R->Q 0.00219649 499 chr17:6909217:G:A 1992_1289_430_R->H 0.0061901 499 chr17:6909219:C:T 1992_1291_431_R->W 0.000199681 499 chr17:6909277:G:A 1992_1349_450_R->Q 0.000199681 499 chr17:6909821:G:A 1992_1435_479_V->I 0.000599042 499 chr17:6909840:G:A 1992_1454_485_R->K 0.000199681 499 chr17:6909858:G:A 1992_1472_491_G->E 0.000199681 499 chr17:6909880:G:C 1992_1494_498_W->C 0.000199681 499 chr17:6913119:T:A 1992_1594_532_C->S,1 0.000199681 499 chr17:6913129:C:T 1992_1604_535_T->M,1 0.000199681 499 chr17:6913332:A:G 1992_1699_567_T->A 0.000199681 499 chr17:6913336:C:A 1992_1703_568_T->N 0.00159744 499 chr17:6913387:G:A 1992_1754_585_R->Q,1 0.000199681 499 chr17:6913407:G:A 1992_1774_592_A->T,1 0.000199681 499 chr17:6913695:T:C 1992_1945_649_Y->H 0.000798722 499 na12878 Variants: 499 chr17:6902760:A:G 1992_782_261_Q->R 499 chr17:6904934:A:G 1992_965_322_N->S 499 snyder Variants: 499 chr17:6902760:A:G 1992_782_261_Q->R 500 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000239697_ENST00000557233 gene_Name: TNF12_HUMAN 500 list of pdbs: 500 4HT1 pdb_description: 12-Jun-13 X-ray 2.500 Human tweak in complex with the fab fragment of a neutralizi antibody 500 Zimmer Variants: 500 chr17:7462969:A:G 993_527_176_N->S,1 500 HGMD Variants: 500 chr17:7460154:C:T 993_433_145_R->C 500 oneKG Variants: 500 chr17:7452627:C:A 993_157_53_Q->K 0.000399361 500 chr17:7453444:A:C 993_215_72_N->T 0.000199681 500 chr17:7453474:C:T 993_245_82_A->V 0.000199681 500 chr17:7454283:G:A 993_361_121_G->R 0.000199681 500 chr17:7460154:C:T 993_433_145_R->C 0.000199681 500 chr17:7460164:G:A 993_443_148_R->H 0.000399361 500 chr17:7462969:A:G 993_527_176_N->S,1 0.440296 500 chr17:7463776:A:T 993_854_285_D->V,1 0.000199681 500 na12878 Variants: 500 chr17:7462969:A:G 993_527_176_N->S,1 500 snyder Variants: 500 chr17:7462969:A:G 993_527_176_N->S,1 501 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000046604_ENST00000261590 gene_Name: DSG2_HUMAN 501 list of pdbs: 501 2YQG pdb_description: 02-Oct-07 NMR 20 Solution structure of the first cadherin domain from human desmoglein-2 501 Zimmer Variants: 501 chr18:29126108:T:G 3357_2759_920_V->G;GENE=DSG2;CDSS=2 501 HGMD Variants: 501 chr18:29104755:G:A 3357_918_306_W->* 501 chr18:29115263:G:A 3357_1311_437_W->* 501 chr18:29115333:C:T 3357_1381_461_Q->* 501 chr18:29118731:C:T 3357_1669_557_Q->* 501 chr18:29118734:C:T 3357_1672_558_Q->* 501 chr18:29118835:T:A 3357_1773_591_C->* 501 chr18:29078217:G:C 3357_3_1_M->I 501 chr18:29099789:T:A 3357_105_35_N->K 501 chr18:29099820:C:T 3357_136_46_R->W 501 chr18:29099821:G:A 3357_137_46_R->Q 501 chr18:29099830:G:A 3357_146_49_R->H 501 chr18:29099850:G:A 3357_166_56_V->M 501 chr18:29099892:A:G 3357_208_70_I->V 501 chr18:29100766:A:G 3357_217_73_I->V 501 chr18:29100809:A:G 3357_260_87_Y->C 501 chr18:29100847:G:C 3357_298_100_G->R 501 chr18:29101120:G:A 3357_437_146_R->H 501 chr18:29101128:G:T 3357_445_149_V->F 501 chr18:29101128:G:A 3357_445_149_V->I 501 chr18:29101145:C:A 3357_462_154_D->E 501 chr18:29101153:C:T 3357_470_157_P->L 501 chr18:29101156:T:G 3357_473_158_V->G 501 chr18:29102082:A:G 3357_560_187_D->G 501 chr18:29102103:C:T 3357_581_194_S->L 501 chr18:29102115:A:G 3357_593_198_Y->C 501 chr18:29102136:C:T 3357_614_205_P->L 501 chr18:29102207:A:G 3357_685_229_R->G 501 chr18:29102211:A:G 3357_689_230_E->G 501 chr18:29104436:T:C 3357_716_239_V->A 501 chr18:29104512:T:A 3357_792_264_D->E 501 chr18:29104517:A:G 3357_797_266_N->S 501 chr18:29104711:C:T 3357_874_292_R->C 501 chr18:29104714:A:G 3357_877_293_I->V 501 chr18:29104717:A:G 3357_880_294_K->E 501 chr18:29104726:G:A 3357_889_297_D->N 501 chr18:29104727:A:G 3357_890_297_D->G 501 chr18:29104798:T:A 3357_961_321_F->I 501 chr18:29104814:A:T 3357_977_326_D->V 501 chr18:29104825:A:G 3357_988_330_N->D 501 chr18:29104828:G:A 3357_991_331_E->K 501 chr18:29104835:T:C 3357_998_333_I->T 501 chr18:29104840:A:G 3357_1003_335_T->A 501 chr18:29110986:A:G 3357_1051_351_S->G 501 chr18:29111007:G:A 3357_1072_358_A->T 501 chr18:29111076:A:T 3357_1141_381_N->Y 501 chr18:29111109:G:A 3357_1174_392_V->I 501 chr18:29115286:C:T 3357_1334_445_S->F 501 chr18:29116180:C:T 3357_1439_480_T->I 501 chr18:29116219:A:G 3357_1478_493_N->S 501 chr18:29116221:G:A 3357_1480_494_D->N 501 chr18:29116222:A:C 3357_1481_494_D->A 501 chr18:29116261:G:A 3357_1520_507_C->Y 501 chr18:29116291:C:T 3357_1550_517_A->V 501 chr18:29116333:T:G 3357_1592_531_F->C 501 chr18:29121188:G:A 3357_1912_638_G->R 501 chr18:29122514:G:C 3357_2033_678_G->A 501 chr18:29122618:G:A 3357_2137_713_E->K 501 chr18:29125688:C:T 3357_2339_780_A->V 501 chr18:29125783:G:T 3357_2434_812_G->C 501 chr18:29125783:G:A 3357_2434_812_G->S 501 chr18:29125786:T:C 3357_2437_813_C->R 501 chr18:29125789:T:C 3357_2440_814_C->R 501 chr18:29125819:C:T 3357_2470_824_R->C 501 chr18:29125840:C:T 3357_2491_831_L->F 501 chr18:29125846:T:A 3357_2497_833_F->I 501 chr18:29126108:T:G 3357_2759_920_V->G 501 chr18:29126122:C:T 3357_2773_925_P->S 501 chr18:29126389:G:A 3357_3040_1014_V->I 501 chr18:29126489:C:G 3357_3140_1047_T->R 501 chr18:29126516:C:T 3357_3167_1056_T->I 501 chr18:29126524:T:A 3357_3175_1059_S->T 501 chr18:29126596:G:A 3357_3247_1083_G->S 501 oneKG Variants: 501 chr18:29111146:C:G 3357_1211_404_S->* 0.000199681 501 chr18:29126388:C:A 3357_3039_1013_Y->* 0.000399361 501 chr18:29078228:C:T 3357_14_5_P->L 0.000399361 501 chr18:29098211:A:G 3357_55_19_N->D 0.000199681 501 chr18:29099775:A:G 3357_91_31_T->A 0.000199681 501 chr18:29099805:C:A 3357_121_41_H->N 0.000199681 501 chr18:29099845:C:T 3357_161_54_A->V 0.000199681 501 chr18:29099850:G:A 3357_166_56_V->M 0.000199681 501 chr18:29100770:A:G 3357_221_74_H->R 0.000998403 501 chr18:29100815:A:G 3357_266_89_Y->C 0.00379393 501 chr18:29100905:G:A 3357_356_119_R->Q 0.000199681 501 chr18:29101128:G:A 3357_445_149_V->I 0.000399361 501 chr18:29101149:G:A 3357_466_156_E->K 0.000199681 501 chr18:29101156:T:G 3357_473_158_V->G 0.00139776 501 chr18:29102049:C:T 3357_527_176_T->I 0.000199681 501 chr18:29102067:A:G 3357_545_182_N->S 0.000199681 501 chr18:29102123:G:A 3357_601_201_V->I 0.000199681 501 chr18:29102135:C:T 3357_613_205_P->S 0.000199681 501 chr18:29104457:G:A 3357_737_246_G->E 0.000199681 501 chr18:29104678:G:A 3357_841_281_V->I 0.000199681 501 chr18:29104700:T:G 3357_863_288_V->G 0.000199681 501 chr18:29104712:G:A 3357_875_292_R->H 0.000199681 501 chr18:29104714:A:G 3357_877_293_I->V 0.0323482 501 chr18:29104801:C:T 3357_964_322_H->Y 0.000199681 501 chr18:29104840:A:G 3357_1003_335_T->A 0.000199681 501 chr18:29110986:A:G 3357_1051_351_S->G 0.00219649 501 chr18:29111019:A:G 3357_1084_362_K->E 0.000199681 501 chr18:29111082:A:C 3357_1147_383_K->Q 0.000199681 501 chr18:29111109:G:A 3357_1174_392_V->I 0.000998403 501 chr18:29111179:C:A 3357_1244_415_A->D 0.000199681 501 chr18:29115244:T:C 3357_1292_431_L->S 0.000199681 501 chr18:29115255:G:A 3357_1303_435_D->N 0.000599042 501 chr18:29115328:A:G 3357_1376_459_Y->C 0.00259585 501 chr18:29115375:G:C 3357_1423_475_D->H 0.000199681 501 chr18:29116222:A:C 3357_1481_494_D->A 0.000399361 501 chr18:29116284:G:A 3357_1543_515_V->I 0.00978435 501 chr18:29116291:C:T 3357_1550_517_A->V 0.00179712 501 chr18:29116338:G:A 3357_1597_533_V->I 0.000199681 501 chr18:29116346:C:G 3357_1605_535_D->E 0.000199681 501 chr18:29116384:G:A 3357_1643_548_R->H 0.000199681 501 chr18:29118843:T:C 3357_1781_594_L->P 0.000599042 501 chr18:29118909:C:T 3357_1847_616_A->V 0.000199681 501 chr18:29121170:C:A 3357_1894_632_L->M 0.000199681 501 chr18:29122565:C:T 3357_2084_695_T->M 0.000199681 501 chr18:29122591:A:G 3357_2110_704_I->V 0.000199681 501 chr18:29122618:G:A 3357_2137_713_E->K 0.0259585 501 chr18:29122673:A:C 3357_2192_731_Q->P 0.000599042 501 chr18:29122730:C:T 3357_2249_750_A->V 0.000199681 501 chr18:29122754:C:T 3357_2273_758_A->V 0.000199681 501 chr18:29122799:G:A 3357_2318_773_R->K 0.240016 501 chr18:29125688:C:T 3357_2339_780_A->V 0.000798722 501 chr18:29125717:C:T 3357_2368_790_H->Y 0.00119808 501 chr18:29125819:C:T 3357_2470_824_R->C 0.000199681 501 chr18:29125936:A:C 3357_2587_863_M->L 0.00778754 501 chr18:29125946:C:T 3357_2597_866_A->V 0.000199681 501 chr18:29125996:T:C 3357_2647_883_S->P 0.0061901 501 chr18:29126057:C:T 3357_2708_903_T->I 0.0061901 501 chr18:29126107:G:A 3357_2758_920_V->I 0.000199681 501 chr18:29126108:T:G 3357_2759_920_V->G 0.00319489 501 chr18:29126129:C:T 3357_2780_927_P->L 0.000399361 501 chr18:29126235:T:G 3357_2886_962_I->M 0.00319489 501 chr18:29126255:C:T 3357_2906_969_A->V 0.000798722 501 chr18:29126290:A:G 3357_2941_981_N->D 0.000199681 501 chr18:29126308:G:T 3357_2959_987_V->F 0.000399361 501 chr18:29126431:G:A 3357_3082_1028_G->S 0.00139776 501 chr18:29126432:G:A 3357_3083_1028_G->D 0.000199681 501 chr18:29126462:T:C 3357_3113_1038_I->T 0.000199681 501 chr18:29126465:C:T 3357_3116_1039_A->V 0.000199681 501 chr18:29126467:G:A 3357_3118_1040_V->I 0.000199681 501 chr18:29126485:G:A 3357_3136_1046_V->M 0.000199681 501 chr18:29126524:T:A 3357_3175_1059_S->T 0.00139776 501 chr18:29126558:C:T 3357_3209_1070_T->M 0.00399361 501 chr18:29126593:C:G 3357_3244_1082_P->A 0.000199681 501 chr18:29126630:G:T 3357_3281_1094_G->V 0.000399361 501 chr18:29126632:C:A 3357_3283_1095_H->N 0.000399361 501 chr18:29126644:A:G 3357_3295_1099_T->A 0.00139776 501 na12878 Variants: 501 chr18:29122799:G:A 3357_2318_773_R->K 501 snyder Variants: 501 chr18:29122799:G:A 3357_2318_773_R->K 502 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141434_ENST00000269202 gene_Name: MEP1B_HUMAN 502 list of pdbs: 502 4GWN pdb_description: 19-Sep-12 X-ray 3.000 Crystal structure of human mature meprin beta 502 4GWM pdb_description: 19-Sep-12 X-ray 1.850 Crystal structure of human promeprin beta 502 Zimmer Variants: 502 chr18:29795101:T:C 2106_1636_546_S->P 502 HGMD Variants: 502 chr18:29797921:C:T 2106_2084_695_P->L 502 oneKG Variants: 502 chr18:29784150:G:A 2106_374_125_W->* 0.000399361 502 chr18:29797058:C:T 2106_1864_622_R->* 0.000199681 502 chr18:29797785:C:T 2106_1948_650_R->* 0.000798722 502 chr18:29771786:C:A 2106_65_22_A->E 0.000199681 502 chr18:29771801:T:C 2106_80_27_F->S 0.000199681 502 chr18:29772641:G:A 2106_115_39_D->N 0.000399361 502 chr18:29772648:A:G 2106_122_41_N->S 0.000199681 502 chr18:29775371:C:T 2106_173_58_A->V 0.000199681 502 chr18:29775395:G:C 2106_197_66_G->A 0.000199681 502 chr18:29782888:T:C 2106_283_95_F->L 0.00239617 502 chr18:29782894:C:T 2106_289_97_R->C 0.00179712 502 chr18:29782943:C:G 2106_338_113_T->R 0.000199681 502 chr18:29782953:A:G 2106_348_116_I->M 0.0071885 502 chr18:29784170:C:G 2106_394_132_R->G 0.000199681 502 chr18:29784171:G:A 2106_395_132_R->Q 0.00698882 502 chr18:29784238:C:A 2106_462_154_F->L 0.000199681 502 chr18:29784281:C:T 2106_505_169_R->W 0.000199681 502 chr18:29784293:G:A 2106_517_173_V->I 0.00279553 502 chr18:29787268:G:A 2106_601_201_V->I 0.000199681 502 chr18:29787302:G:A 2106_635_212_S->N 0.000199681 502 chr18:29788174:C:T 2106_859_287_R->W 0.000199681 502 chr18:29788186:G:C 2106_871_291_V->L 0.000199681 502 chr18:29788198:C:T 2106_883_295_P->S 0.000199681 502 chr18:29788209:T:A 2106_894_298_D->E 0.000199681 502 chr18:29790520:G:A 2106_976_326_V->M 0.0325479 502 chr18:29790526:G:A 2106_982_328_E->K 0.000199681 502 chr18:29790585:C:G 2106_1041_347_N->K 0.000199681 502 chr18:29793100:A:G 2106_1157_386_Q->R 0.000199681 502 chr18:29793165:T:A 2106_1222_408_S->T 0.00419329 502 chr18:29793181:G:A 2106_1238_413_G->D 0.000199681 502 chr18:29793225:C:T 2106_1282_428_P->S 0.000199681 502 chr18:29793288:T:C 2106_1345_449_Y->H 0.00219649 502 chr18:29793346:C:T 2106_1403_468_A->V 0.00878594 502 chr18:29793475:G:A 2106_1532_511_R->H 0.000399361 502 chr18:29793505:A:T 2106_1562_521_D->V 0.000199681 502 chr18:29795080:G:A 2106_1615_539_V->M 0.000798722 502 chr18:29795101:T:C 2106_1636_546_S->P 0.16853 502 chr18:29795177:G:A 2106_1712_571_R->K 0.000599042 502 chr18:29797043:G:A 2106_1849_617_G->S 0.000399361 502 chr18:29797059:G:A 2106_1865_622_R->Q 0.000599042 502 chr18:29797838:G:A 2106_2001_667_M->I 0.000199681 502 chr18:29797866:T:C 2106_2029_677_C->R 0.000199681 502 chr18:29797885:G:A 2106_2048_683_R->H 0.000199681 502 chr18:29797908:C:T 2106_2071_691_P->S 0.000199681 502 chr18:29797921:C:T 2106_2084_695_P->L 0.355831 502 na12878 Variants: 502 chr18:29795101:T:C 2106_1636_546_S->P 502 chr18:29797921:C:T 2106_2084_695_P->L 502 snyder Variants: 502 chr18:29797921:C:T 2106_2084_695_P->L 503 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000101605_ENST00000356443 gene_Name: MYOM1_HUMAN 503 list of pdbs: 503 3RBS pdb_description: 07-Mar-12 X-ray 1.850 Crystal structure of the myomesin domains 10 and 11 503 2Y25 pdb_description: 21-Dec-11 X-ray 3.500 Crystal structure of the myomesin domains my11-my13 503 2Y23 pdb_description: 21-Dec-11 X-ray 2.500 Crystal structure of the myomesin domains my9-my11 503 2R15 pdb_description: 29-Jan-08 X-ray 2.240 Crystal structure of the myomesin domains 12 and 13 503 Zimmer Variants: 503 chr18:3188778:C:T 5058_739_247_E->K 503 chr18:3215158:C:G 5058_64_22_V->L 503 chr18:3176040:C:G 5058_1022_341_G->A 503 chr18:3188976:A:G 5058_541_181_S->P 503 HGMD Variants: 503 chr18:3083803:C:T 5058_4468_1490_V->I 503 oneKG Variants: 503 chr18:3173994:A:T 5058_1116_372_Y->* 0.000199681 503 chr18:3193822:G:C 5058_425_142_S->* 0.000199681 503 chr18:3067303:A:C 5058_5015_1672_M->R 0.000199681 503 chr18:3067309:G:T 5058_5009_1670_A->E 0.000399361 503 chr18:3067415:C:T 5058_4903_1635_G->S 0.000199681 503 chr18:3067444:G:T 5058_4874_1625_A->D 0.000199681 503 chr18:3067477:G:A 5058_4841_1614_A->V 0.000199681 503 chr18:3067532:C:T 5058_4786_1596_V->M 0.000998403 503 chr18:3071878:C:T 5058_4718_1573_R->Q 0.0105831 503 chr18:3071879:G:A 5058_4717_1573_R->W 0.000199681 503 chr18:3075736:A:G 5058_4672_1558_F->L 0.000399361 503 chr18:3079255:T:C 5058_4570_1524_N->D 0.000199681 503 chr18:3079314:C:T 5058_4511_1504_R->K 0.000199681 503 chr18:3079316:G:T 5058_4509_1503_D->E 0.000199681 503 chr18:3083820:T:C 5058_4451_1484_Y->C 0.000199681 503 chr18:3084007:A:G 5058_4358_1453_M->T 0.0577077 503 chr18:3086040:G:A 5058_4247_1416_T->I 0.000199681 503 chr18:3086044:T:C 5058_4243_1415_I->V 0.000199681 503 chr18:3086065:C:T 5058_4222_1408_D->N 0.0521166 503 chr18:3086106:T:C 5058_4181_1394_D->G 0.000199681 503 chr18:3086110:T:C 5058_4177_1393_K->E 0.000199681 503 chr18:3089558:C:T 5058_4046_1349_R->Q 0.000199681 503 chr18:3090658:T:A 5058_4007_1336_D->V 0.000199681 503 chr18:3090661:C:T 5058_4004_1335_G->E 0.000199681 503 chr18:3090784:A:G 5058_3881_1294_I->T 0.000199681 503 chr18:3094191:C:T 5058_3841_1281_E->K 0.00139776 503 chr18:3094236:C:T 5058_3796_1266_A->T 0.000199681 503 chr18:3102475:T:C 5058_3572_1191_N->S 0.000798722 503 chr18:3102499:C:T 5058_3548_1183_R->Q 0.000399361 503 chr18:3102508:T:C 5058_3539_1180_D->G 0.000798722 503 chr18:3102554:G:A 5058_3493_1165_P->S 0.000599042 503 chr18:3102565:T:C 5058_3482_1161_D->G 0.000199681 503 chr18:3102568:C:T 5058_3479_1160_C->Y 0.000199681 503 chr18:3102577:T:A 5058_3470_1157_N->I 0.000199681 503 chr18:3102594:A:T 5058_3453_1151_D->E 0.00738818 503 chr18:3112301:C:T 5058_3413_1138_R->H 0.000798722 503 chr18:3112302:G:A 5058_3412_1138_R->C 0.00119808 503 chr18:3112326:C:A 5058_3388_1130_A->S 0.000399361 503 chr18:3112380:C:T 5058_3334_1112_V->M 0.000199681 503 chr18:3112406:C:T 5058_3308_1103_R->Q 0.000199681 503 chr18:3116341:G:T 5058_3291_1097_N->K 0.000199681 503 chr18:3116373:A:G 5058_3259_1087_W->R 0.000199681 503 chr18:3116474:T:C 5058_3158_1053_D->G 0.000199681 503 chr18:3119873:C:T 5058_3112_1038_V->I 0.000199681 503 chr18:3119947:G:A 5058_3038_1013_A->V 0.00658946 503 chr18:3119975:T:C 5058_3010_1004_N->D 0.000399361 503 chr18:3126722:C:A 5058_2968_990_A->S 0.000199681 503 chr18:3126811:A:G 5058_2879_960_I->T 0.254393 503 chr18:3126815:T:C 5058_2875_959_K->E 0.000199681 503 chr18:3126839:C:A 5058_2851_951_V->F 0.000199681 503 chr18:3126842:T:C 5058_2848_950_M->V 0.000199681 503 chr18:3126872:T:C 5058_2818_940_I->V 0.000399361 503 chr18:3129295:G:A 5058_2729_910_P->L 0.000399361 503 chr18:3129334:C:T 5058_2690_897_S->N 0.000199681 503 chr18:3129400:A:G 5058_2624_875_L->P 0.000199681 503 chr18:3129427:G:A 5058_2597_866_P->L 0.000199681 503 chr18:3129493:C:A 5058_2531_844_C->F 0.000599042 503 chr18:3134682:C:T 5058_2350_784_E->K 0.000998403 503 chr18:3134736:T:G 5058_2296_766_K->Q 0.000199681 503 chr18:3134738:G:A 5058_2294_765_A->V 0.000199681 503 chr18:3134811:C:G 5058_2221_741_A->P 0.00199681 503 chr18:3135575:T:C 5058_2179_727_T->A 0.00439297 503 chr18:3135581:C:G 5058_2173_725_E->Q 0.000199681 503 chr18:3135616:C:T 5058_2138_713_R->H 0.000199681 503 chr18:3135622:C:T 5058_2132_711_R->H 0.000199681 503 chr18:3135644:C:T 5058_2110_704_E->K 0.00239617 503 chr18:3135685:A:G 5058_2069_690_L->P 0.000199681 503 chr18:3135692:T:A 5058_2062_688_T->S 0.00179712 503 chr18:3141939:T:C 5058_2023_675_K->E 0.000399361 503 chr18:3141959:C:T 5058_2003_668_G->D 0.000199681 503 chr18:3141984:G:C 5058_1978_660_P->A 0.000399361 503 chr18:3142010:C:T 5058_1952_651_R->Q 0.000998403 503 chr18:3142040:G:A 5058_1922_641_P->L 0.000399361 503 chr18:3149196:C:T 5058_1847_616_R->H 0.000199681 503 chr18:3151722:G:C 5058_1813_605_L->V 0.000399361 503 chr18:3151736:T:A 5058_1799_600_E->V 0.0201677 503 chr18:3151799:G:A 5058_1736_579_S->F 0.000199681 503 chr18:3151802:C:A 5058_1733_578_R->L 0.000798722 503 chr18:3151865:G:A 5058_1670_557_S->L 0.000199681 503 chr18:3154961:C:T 5058_1627_543_G->R 0.000199681 503 chr18:3155065:C:T 5058_1523_508_G->E 0.000199681 503 chr18:3164299:T:C 5058_1478_493_Y->C 0.000199681 503 chr18:3164329:C:T 5058_1448_483_R->H 0.000399361 503 chr18:3164380:G:A 5058_1397_466_T->M 0.000798722 503 chr18:3164386:C:T 5058_1391_464_R->Q 0.000399361 503 chr18:3164387:G:A 5058_1390_464_R->W 0.000199681 503 chr18:3164434:A:C 5058_1343_448_V->G 0.000199681 503 chr18:3168820:C:A 5058_1334_445_R->I 0.000199681 503 chr18:3168932:C:T 5058_1222_408_D->N 0.000199681 503 chr18:3168968:G:A 5058_1186_396_P->S 0.000199681 503 chr18:3173950:G:A 5058_1160_387_T->I 0.00339457 503 chr18:3174164:C:G 5058_1065_355_M->I 0.000199681 503 chr18:3176040:C:G 5058_1022_341_G->A 0.242812 503 chr18:3176067:T:C 5058_995_332_Y->C 0.000199681 503 chr18:3176103:T:C 5058_959_320_H->R 0.000199681 503 chr18:3176106:A:G 5058_956_319_V->A 0.000199681 503 chr18:3187487:C:G 5058_920_307_R->P 0.000199681 503 chr18:3188778:C:T 5058_739_247_E->K 0.00219649 503 chr18:3188790:C:G 5058_727_243_V->L 0.000199681 503 chr18:3188873:G:A 5058_644_215_T->M 0.0716853 503 chr18:3188880:G:C 5058_637_213_Q->E 0.000199681 503 chr18:3188891:G:A 5058_626_209_T->M 0.000199681 503 chr18:3188895:A:T 5058_622_208_S->T 0.000199681 503 chr18:3188900:T:C 5058_617_206_K->R 0.000199681 503 chr18:3188918:T:C 5058_599_200_K->R 0.000599042 503 chr18:3188927:G:A 5058_590_197_T->M 0.00379393 503 chr18:3188945:G:A 5058_572_191_T->M 0.000599042 503 chr18:3188949:T:A 5058_568_190_T->S 0.000798722 503 chr18:3188951:T:A 5058_566_189_Q->L 0.000399361 503 chr18:3188976:A:G 5058_541_181_S->P 0.443291 503 chr18:3188978:G:A 5058_539_180_T->I 0.00599042 503 chr18:3188979:T:C 5058_538_180_T->A 0.000199681 503 chr18:3189009:T:A 5058_508_170_N->Y 0.000199681 503 chr18:3189056:G:A 5058_461_154_T->M 0.00259585 503 chr18:3193816:C:T 5058_431_144_R->H 0.000199681 503 chr18:3193918:G:A 5058_329_110_S->F 0.000199681 503 chr18:3214932:C:A 5058_290_97_G->V 0.00219649 503 chr18:3215004:G:A 5058_218_73_A->V 0.000199681 503 chr18:3215019:G:T 5058_203_68_S->Y 0.000199681 503 chr18:3215083:T:C 5058_139_47_S->G 0.00259585 503 chr18:3215086:A:G 5058_136_46_Y->H 0.000199681 503 chr18:3215158:C:G 5058_64_22_V->L 0.127995 503 chr18:3215162:C:G 5058_60_20_K->N 0.000199681 503 na12878 Variants: 503 chr18:3176040:C:G 5058_1022_341_G->A 503 snyder Variants: 503 chr18:3176040:C:G 5058_1022_341_G->A 503 chr18:3188976:A:G 5058_541_181_S->P 504 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000101605_ENST00000261606 gene_Name: MYOM1_HUMAN 504 list of pdbs: 504 3RBS pdb_description: 07-Mar-12 X-ray 1.850 Crystal structure of the myomesin domains 10 and 11 504 2Y25 pdb_description: 21-Dec-11 X-ray 3.500 Crystal structure of the myomesin domains my11-my13 504 2Y23 pdb_description: 21-Dec-11 X-ray 2.500 Crystal structure of the myomesin domains my9-my11 504 2R15 pdb_description: 29-Jan-08 X-ray 2.240 Crystal structure of the myomesin domains 12 and 13 504 Zimmer Variants: 504 chr18:3188778:C:T 4770_739_247_E->K 504 chr18:3215158:C:G 4770_64_22_V->L 504 chr18:3176040:C:G 4770_1022_341_G->A 504 chr18:3188976:A:G 4770_541_181_S->P 504 HGMD Variants: 504 chr18:3083803:C:T 4770_4180_1394_V->I 504 oneKG Variants: 504 chr18:3173994:A:T 4770_1116_372_Y->* 0.000199681 504 chr18:3193822:G:C 4770_425_142_S->* 0.000199681 504 chr18:3067303:A:C 4770_4727_1576_M->R 0.000199681 504 chr18:3067309:G:T 4770_4721_1574_A->E 0.000399361 504 chr18:3067415:C:T 4770_4615_1539_G->S 0.000199681 504 chr18:3067444:G:T 4770_4586_1529_A->D 0.000199681 504 chr18:3067477:G:A 4770_4553_1518_A->V 0.000199681 504 chr18:3067532:C:T 4770_4498_1500_V->M 0.000998403 504 chr18:3071878:C:T 4770_4430_1477_R->Q 0.0105831 504 chr18:3071879:G:A 4770_4429_1477_R->W 0.000199681 504 chr18:3075736:A:G 4770_4384_1462_F->L 0.000399361 504 chr18:3079255:T:C 4770_4282_1428_N->D 0.000199681 504 chr18:3079314:C:T 4770_4223_1408_R->K 0.000199681 504 chr18:3079316:G:T 4770_4221_1407_D->E 0.000199681 504 chr18:3083820:T:C 4770_4163_1388_Y->C 0.000199681 504 chr18:3084007:A:G 4770_4070_1357_M->T 0.0577077 504 chr18:3086040:G:A 4770_3959_1320_T->I 0.000199681 504 chr18:3086044:T:C 4770_3955_1319_I->V 0.000199681 504 chr18:3086065:C:T 4770_3934_1312_D->N 0.0521166 504 chr18:3086106:T:C 4770_3893_1298_D->G 0.000199681 504 chr18:3086110:T:C 4770_3889_1297_K->E 0.000199681 504 chr18:3089558:C:T 4770_3758_1253_R->Q 0.000199681 504 chr18:3090658:T:A 4770_3719_1240_D->V 0.000199681 504 chr18:3090661:C:T 4770_3716_1239_G->E 0.000199681 504 chr18:3090784:A:G 4770_3593_1198_I->T 0.000199681 504 chr18:3094191:C:T 4770_3553_1185_E->K 0.00139776 504 chr18:3094236:C:T 4770_3508_1170_A->T 0.000199681 504 chr18:3102475:T:C 4770_3284_1095_N->S 0.000798722 504 chr18:3102499:C:T 4770_3260_1087_R->Q 0.000399361 504 chr18:3102508:T:C 4770_3251_1084_D->G 0.000798722 504 chr18:3102554:G:A 4770_3205_1069_P->S 0.000599042 504 chr18:3102565:T:C 4770_3194_1065_D->G 0.000199681 504 chr18:3102568:C:T 4770_3191_1064_C->Y 0.000199681 504 chr18:3102577:T:A 4770_3182_1061_N->I 0.000199681 504 chr18:3102594:A:T 4770_3165_1055_D->E 0.00738818 504 chr18:3112301:C:T 4770_3125_1042_R->H 0.000798722 504 chr18:3112302:G:A 4770_3124_1042_R->C 0.00119808 504 chr18:3112326:C:A 4770_3100_1034_A->S 0.000399361 504 chr18:3112380:C:T 4770_3046_1016_V->M 0.000199681 504 chr18:3112406:C:T 4770_3020_1007_R->Q 0.000199681 504 chr18:3116341:G:T 4770_3003_1001_N->K 0.000199681 504 chr18:3116373:A:G 4770_2971_991_W->R 0.000199681 504 chr18:3116474:T:C 4770_2870_957_D->G 0.000199681 504 chr18:3119873:C:T 4770_2824_942_V->I 0.000199681 504 chr18:3119947:G:A 4770_2750_917_A->V 0.00658946 504 chr18:3119975:T:C 4770_2722_908_N->D 0.000399361 504 chr18:3126722:C:A 4770_2680_894_A->S 0.000199681 504 chr18:3126811:A:G 4770_2591_864_I->T 0.254393 504 chr18:3126815:T:C 4770_2587_863_K->E 0.000199681 504 chr18:3126839:C:A 4770_2563_855_V->F 0.000199681 504 chr18:3126842:T:C 4770_2560_854_M->V 0.000199681 504 chr18:3126872:T:C 4770_2530_844_I->V 0.000399361 504 chr18:3134682:C:T 4770_2350_784_E->K 0.000998403 504 chr18:3134736:T:G 4770_2296_766_K->Q 0.000199681 504 chr18:3134738:G:A 4770_2294_765_A->V 0.000199681 504 chr18:3134811:C:G 4770_2221_741_A->P 0.00199681 504 chr18:3135575:T:C 4770_2179_727_T->A 0.00439297 504 chr18:3135581:C:G 4770_2173_725_E->Q 0.000199681 504 chr18:3135616:C:T 4770_2138_713_R->H 0.000199681 504 chr18:3135622:C:T 4770_2132_711_R->H 0.000199681 504 chr18:3135644:C:T 4770_2110_704_E->K 0.00239617 504 chr18:3135685:A:G 4770_2069_690_L->P 0.000199681 504 chr18:3135692:T:A 4770_2062_688_T->S 0.00179712 504 chr18:3141939:T:C 4770_2023_675_K->E 0.000399361 504 chr18:3141959:C:T 4770_2003_668_G->D 0.000199681 504 chr18:3141984:G:C 4770_1978_660_P->A 0.000399361 504 chr18:3142010:C:T 4770_1952_651_R->Q 0.000998403 504 chr18:3142040:G:A 4770_1922_641_P->L 0.000399361 504 chr18:3149196:C:T 4770_1847_616_R->H 0.000199681 504 chr18:3151722:G:C 4770_1813_605_L->V 0.000399361 504 chr18:3151736:T:A 4770_1799_600_E->V 0.0201677 504 chr18:3151799:G:A 4770_1736_579_S->F 0.000199681 504 chr18:3151802:C:A 4770_1733_578_R->L 0.000798722 504 chr18:3151865:G:A 4770_1670_557_S->L 0.000199681 504 chr18:3154961:C:T 4770_1627_543_G->R 0.000199681 504 chr18:3155065:C:T 4770_1523_508_G->E 0.000199681 504 chr18:3164299:T:C 4770_1478_493_Y->C 0.000199681 504 chr18:3164329:C:T 4770_1448_483_R->H 0.000399361 504 chr18:3164380:G:A 4770_1397_466_T->M 0.000798722 504 chr18:3164386:C:T 4770_1391_464_R->Q 0.000399361 504 chr18:3164387:G:A 4770_1390_464_R->W 0.000199681 504 chr18:3164434:A:C 4770_1343_448_V->G 0.000199681 504 chr18:3168820:C:A 4770_1334_445_R->I 0.000199681 504 chr18:3168932:C:T 4770_1222_408_D->N 0.000199681 504 chr18:3168968:G:A 4770_1186_396_P->S 0.000199681 504 chr18:3173950:G:A 4770_1160_387_T->I 0.00339457 504 chr18:3174164:C:G 4770_1065_355_M->I 0.000199681 504 chr18:3176040:C:G 4770_1022_341_G->A 0.242812 504 chr18:3176067:T:C 4770_995_332_Y->C 0.000199681 504 chr18:3176103:T:C 4770_959_320_H->R 0.000199681 504 chr18:3176106:A:G 4770_956_319_V->A 0.000199681 504 chr18:3187487:C:G 4770_920_307_R->P 0.000199681 504 chr18:3188778:C:T 4770_739_247_E->K 0.00219649 504 chr18:3188790:C:G 4770_727_243_V->L 0.000199681 504 chr18:3188873:G:A 4770_644_215_T->M 0.0716853 504 chr18:3188880:G:C 4770_637_213_Q->E 0.000199681 504 chr18:3188891:G:A 4770_626_209_T->M 0.000199681 504 chr18:3188895:A:T 4770_622_208_S->T 0.000199681 504 chr18:3188900:T:C 4770_617_206_K->R 0.000199681 504 chr18:3188918:T:C 4770_599_200_K->R 0.000599042 504 chr18:3188927:G:A 4770_590_197_T->M 0.00379393 504 chr18:3188945:G:A 4770_572_191_T->M 0.000599042 504 chr18:3188949:T:A 4770_568_190_T->S 0.000798722 504 chr18:3188951:T:A 4770_566_189_Q->L 0.000399361 504 chr18:3188976:A:G 4770_541_181_S->P 0.443291 504 chr18:3188978:G:A 4770_539_180_T->I 0.00599042 504 chr18:3188979:T:C 4770_538_180_T->A 0.000199681 504 chr18:3189009:T:A 4770_508_170_N->Y 0.000199681 504 chr18:3189056:G:A 4770_461_154_T->M 0.00259585 504 chr18:3193816:C:T 4770_431_144_R->H 0.000199681 504 chr18:3193918:G:A 4770_329_110_S->F 0.000199681 504 chr18:3214932:C:A 4770_290_97_G->V 0.00219649 504 chr18:3215004:G:A 4770_218_73_A->V 0.000199681 504 chr18:3215019:G:T 4770_203_68_S->Y 0.000199681 504 chr18:3215083:T:C 4770_139_47_S->G 0.00259585 504 chr18:3215086:A:G 4770_136_46_Y->H 0.000199681 504 chr18:3215158:C:G 4770_64_22_V->L 0.127995 504 chr18:3215162:C:G 4770_60_20_K->N 0.000199681 504 na12878 Variants: 504 chr18:3176040:C:G 4770_1022_341_G->A 504 snyder Variants: 504 chr18:3176040:C:G 4770_1022_341_G->A 504 chr18:3188976:A:G 4770_541_181_S->P 505 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141655_ENST00000269485 gene_Name: TNR11_HUMAN 505 list of pdbs: 505 1LB5 pdb_description: 31-Jul-02 X-ray 2.400 Traf6-rank complex 505 Zimmer Variants: 505 chr18:60021761:C:T 900_421_141_H->Y 505 chr18:60027241:C:T 900_575_192_A->V 505 HGMD Variants: 505 chr18:60017134:G:T 900_247_83_E->* 505 chr18:60021712:C:A 900_372_124_C->* 505 chr18:60015482:G:C 900_157_53_G->R 505 chr18:60021725:C:T 900_385_129_R->C 505 chr18:60021741:C:T 900_401_134_A->V 505 chr18:60021761:C:T 900_421_141_H->Y 505 chr18:60025496:A:T 900_443_148_D->V 505 chr18:60025561:A:G 900_508_170_R->G 505 chr18:60027189:T:C 900_523_175_C->R 505 chr18:60027241:C:T 900_575_192_A->V 505 oneKG Variants: 505 chr18:60015426:G:C 900_101_34_C->S 0.000199681 505 chr18:60015458:C:T 900_133_45_R->W 0.000199681 505 chr18:60017120:A:T 900_233_78_D->V 0.000199681 505 chr18:60017136:A:C 900_249_83_E->D 0.000199681 505 chr18:60021761:C:T 900_421_141_H->Y 0.0573083 505 chr18:60027240:G:A 900_574_192_A->T 0.000199681 505 chr18:60027241:C:T 900_575_192_A->V 0.405751 505 chr18:60051984:G:A 900_617_206_G->E 0.000199681 505 chr18:60052034:A:G 900_667_223_M->V 0.000399361 505 chr18:60052155:C:G 900_788_263_S->C 0.000199681 505 chr18:60052221:A:G 900_854_285_E->G 0.000998403 505 na12878 Variants: 505 chr18:60027241:C:T 900_575_192_A->V 505 snyder Variants: 505 chr18:60027241:C:T 900_575_192_A->V 506 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000141655_ENST00000586569 gene_Name: TNR11_HUMAN 506 list of pdbs: 506 1LB5 pdb_description: 31-Jul-02 X-ray 2.400 Traf6-rank complex 506 Zimmer Variants: 506 chr18:60021761:C:T 1851_421_141_H->Y;GENE=TNFRSF11A;CDSS=2 506 chr18:60027241:C:T 1851_575_192_A->V;GENE=TNFRSF11A;CDSS=2 506 HGMD Variants: 506 chr18:60017134:G:T 1851_247_83_E->* 506 chr18:60021712:C:A 1851_372_124_C->* 506 chr18:60035988:G:T 1851_838_280_G->* 506 chr18:60036451:G:A 1851_1301_434_W->* 506 chr18:60015482:G:C 1851_157_53_G->R 506 chr18:60021725:C:T 1851_385_129_R->C 506 chr18:60021741:C:T 1851_401_134_A->V 506 chr18:60021761:C:T 1851_421_141_H->Y 506 chr18:60025496:A:T 1851_443_148_D->V 506 chr18:60025561:A:G 1851_508_170_R->G 506 chr18:60027189:T:C 1851_523_175_C->R 506 chr18:60027241:C:T 1851_575_192_A->V 506 chr18:60029026:G:T 1851_730_244_A->S 506 oneKG Variants: 506 chr18:60015426:G:C 1851_101_34_C->S 0.000199681 506 chr18:60015458:C:T 1851_133_45_R->W 0.000199681 506 chr18:60017120:A:T 1851_233_78_D->V 0.000199681 506 chr18:60017136:A:C 1851_249_83_E->D 0.000199681 506 chr18:60021761:C:T 1851_421_141_H->Y 0.0573083 506 chr18:60027240:G:A 1851_574_192_A->T 0.000199681 506 chr18:60027241:C:T 1851_575_192_A->V 0.405751 506 chr18:60028921:G:A 1851_625_209_V->I 0.00399361 506 chr18:60028954:T:G 1851_658_220_F->V 0.000199681 506 chr18:60028957:G:A 1851_661_221_A->T 0.000199681 506 chr18:60028964:T:A 1851_668_223_V->E 0.000199681 506 chr18:60029014:A:G 1851_718_240_K->E 0.000199681 506 chr18:60033941:C:G 1851_731_244_A->G 0.000199681 506 chr18:60036052:A:C 1851_902_301_Y->S 0.000199681 506 chr18:60036093:G:C 1851_943_315_G->R 0.000399361 506 chr18:60036232:T:G 1851_1082_361_L->R 0.000199681 506 chr18:60036295:A:G 1851_1145_382_E->G 0.000199681 506 chr18:60036498:C:T 1851_1348_450_R->W 0.00379393 506 chr18:60036531:G:A 1851_1381_461_V->M 0.00579073 506 chr18:60036547:G:A 1851_1397_466_R->H 0.0121805 506 chr18:60036565:G:C 1851_1415_472_C->S 0.00119808 506 chr18:60036597:G:A 1851_1447_483_E->K 0.000399361 506 chr18:60036669:G:A 1851_1519_507_A->T 0.00299521 506 chr18:60051984:G:A 1851_1568_523_G->E 0.000199681 506 chr18:60052034:A:G 1851_1618_540_M->V 0.000399361 506 chr18:60052155:C:G 1851_1739_580_S->C 0.000199681 506 chr18:60052221:A:G 1851_1805_602_E->G 0.000998403 506 na12878 Variants: 506 chr18:60027241:C:T 1851_575_192_A->V 506 snyder Variants: 506 chr18:60027241:C:T 1851_575_192_A->V 507 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000206075_ENST00000382771 gene_Name: SPB5_HUMAN 507 list of pdbs: 507 1XU8 pdb_description: 15-Mar-05 X-ray 2.800 The 2.8 a structure of a tumour suppressing serpin 507 1XQJ pdb_description: 26-Oct-04 X-ray 3.100 3.10 a crystal structure of maspin, space group i 4 2 2 507 1XQG pdb_description: 26-Oct-04 X-ray 3.100 3.10 a crystal structure of maspin, space group p 4 21 2 507 1WZ9 pdb_description: 15-Mar-05 X-ray 2.100 The 2.1 a structure of a tumour suppressing serpin 507 Zimmer Variants: 507 chr18:61160287:T:C 1128_526_176_S->P 507 chr18:61170782:A:G 1128_955_319_I->V;GENE=SERPINB5;CDSS=1 507 HGMD Variants: 507 chr18:61160287:T:C 1128_526_176_S->P 507 oneKG Variants: 507 chr18:61151687:C:T 1128_26_9_S->L 0.000199681 507 chr18:61151695:G:A 1128_34_12_A->T 0.000199681 507 chr18:61151698:G:A 1128_37_13_V->I 0.000199681 507 chr18:61151704:C:G 1128_43_15_L->V 0.000199681 507 chr18:61151774:C:G 1128_113_38_S->C 0.000199681 507 chr18:61151786:C:T 1128_125_42_A->V 0.000199681 507 chr18:61154180:T:G 1128_170_57_V->G 0.000399361 507 chr18:61154206:G:A 1128_196_66_V->I 0.0127796 507 chr18:61154237:A:T 1128_227_76_D->V 0.000199681 507 chr18:61154290:G:A 1128_280_94_V->I 0.000199681 507 chr18:61156636:C:G 1128_363_121_F->L 0.000199681 507 chr18:61156654:A:C 1128_381_127_E->D 0.000199681 507 chr18:61160229:G:C 1128_468_156_Q->H 0.000199681 507 chr18:61160287:T:C 1128_526_176_S->P 0.284545 507 chr18:61160308:T:C 1128_547_183_C->R 0.000399361 507 chr18:61160320:G:C 1128_559_187_V->L 0.308906 507 chr18:61166356:G:T 1128_571_191_D->Y 0.00219649 507 chr18:61166376:G:C 1128_591_197_M->I 0.00139776 507 chr18:61170578:A:G 1128_751_251_N->D 0.000199681 507 chr18:61170579:A:T 1128_752_251_N->I 0.000199681 507 chr18:61170657:A:G 1128_830_277_K->R 0.000399361 507 chr18:61170782:A:G 1128_955_319_I->V 0.364816 507 chr18:61170816:G:A 1128_989_330_G->D 0.000199681 507 chr18:61170818:G:A 1128_991_331_G->R 0.000399361 507 chr18:61170832:G:C 1128_1005_335_E->D 0.000599042 507 na12878 Variants: 507 chr18:61160287:T:C 1128_526_176_S->P 507 chr18:61170782:A:G 1128_955_319_I->V 507 snyder Variants: 507 chr18:61160287:T:C 1128_526_176_S->P 507 chr18:61170782:A:G 1128_955_319_I->V 508 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000206075_ENST00000489441 gene_Name: SPB5_HUMAN 508 list of pdbs: 508 1XU8 pdb_description: 15-Mar-05 X-ray 2.800 The 2.8 a structure of a tumour suppressing serpin 508 1XQJ pdb_description: 26-Oct-04 X-ray 3.100 3.10 a crystal structure of maspin, space group i 4 2 2 508 1XQG pdb_description: 26-Oct-04 X-ray 3.100 3.10 a crystal structure of maspin, space group p 4 21 2 508 1WZ9 pdb_description: 15-Mar-05 X-ray 2.100 The 2.1 a structure of a tumour suppressing serpin 508 Zimmer Variants: 508 chr18:61160287:T:C 696_526_176_S->P;GENE=SERPINB5;CDSS=2 508 HGMD Variants: 508 chr18:61160287:T:C 696_526_176_S->P 508 oneKG Variants: 508 chr18:61151687:C:T 696_26_9_S->L 0.000199681 508 chr18:61151695:G:A 696_34_12_A->T 0.000199681 508 chr18:61151698:G:A 696_37_13_V->I 0.000199681 508 chr18:61151704:C:G 696_43_15_L->V 0.000199681 508 chr18:61151774:C:G 696_113_38_S->C 0.000199681 508 chr18:61151786:C:T 696_125_42_A->V 0.000199681 508 chr18:61154180:T:G 696_170_57_V->G 0.000399361 508 chr18:61154206:G:A 696_196_66_V->I 0.0127796 508 chr18:61154237:A:T 696_227_76_D->V 0.000199681 508 chr18:61154290:G:A 696_280_94_V->I 0.000199681 508 chr18:61156636:C:G 696_363_121_F->L 0.000199681 508 chr18:61156654:A:C 696_381_127_E->D 0.000199681 508 chr18:61160229:G:C 696_468_156_Q->H 0.000199681 508 chr18:61160287:T:C 696_526_176_S->P 0.284545 508 chr18:61160308:T:C 696_547_183_C->R 0.000399361 508 chr18:61160320:G:C 696_559_187_V->L 0.308906 508 chr18:61160339:C:T 696_578_193_A->V 0.000998403 508 na12878 Variants: 508 chr18:61160287:T:C 696_526_176_S->P 508 snyder Variants: 508 chr18:61160287:T:C 696_526_176_S->P 509 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000090339_ENST00000264832 gene_Name: ICAM1_HUMAN 509 list of pdbs: 509 3TCX pdb_description: 31-Aug-11 X-ray 3.600 Structure of engineered single domain icam-1 d1 with high-af integrin i domain of nativE C-terminal helix conformation 509 2OZ4 pdb_description: 16-Oct-07 X-ray 2.700 Structural plasticity in igsf domain 4 of icam-1 mediates ce dimerization 509 1Z7Z pdb_description: 02-Aug-05 - - Cryo-em structure of human coxsackievirus a21 complexed with domain icam-1kilifi 509 1P53 pdb_description: 04-May-04 X-ray 3.060 The crystal structure of icam-1 d3-d5 fragment 509 1MQ8 pdb_description: 14-Jan-03 X-ray 3.300 Crystal structure of alphal i domain in complex with icam-1 509 1IJ4 pdb_description: 10-Jul-02 Theoret model Model of the alb2 i-domain / icam-1 d1 complex 509 1IC1 pdb_description: 17-Jun-98 X-ray 3.000 The crystal structure for the n-terminal two domains of icam 509 1IAM pdb_description: 29-Apr-98 X-ray 2.100 Structure of the two amino-terminal domains of human interce adhesion molecule-1, icam-1 509 1D3L pdb_description: 01-Dec-99 X-ray 3.250 D1d2-icam-1 fully glycosylated, variation of d1-d2 interdomain angle in different crystal structures. 509 1D3I pdb_description: 19-Jan-00 - - Cryo-em structure of human rhinovirus 14 (hrv14) complexed with a two-domain fragment of its cellular receptor, intercellular adhesion molecule-1 (d1d2-icam-1). Implications for virus-receptor interactions. Alpha carbons only 509 1D3E pdb_description: 19-Jan-00 - - Cryo-em structure of human rhinovirus 16 (hrv16) complexed with a two-domain fragment of its cellular receptor, intercellular adhesion molecule-1 (d1d2-icam-1). Implications for virus-receptor interactions. Alpha carbons only 509 Zimmer Variants: 509 chr19:10395208:C:T 1599_1055_352_P->L 509 chr19:10395683:A:G 1599_1405_469_K->E 509 HGMD Variants: 509 chr19:10385540:A:T 1599_167_56_K->M 509 chr19:10394792:G:A 1599_721_241_G->R 509 chr19:10395208:C:T 1599_1055_352_P->L 509 chr19:10395683:A:G 1599_1405_469_K->E 509 chr19:10395796:C:T 1599_1432_478_R->W 509 oneKG Variants: 509 chr19:10385488:C:T 1599_115_39_P->S 0.000199681 509 chr19:10385534:A:G 1599_161_54_Q->R 0.000199681 509 chr19:10385540:A:T 1599_167_56_K->M 0.0844649 509 chr19:10385600:G:A 1599_227_76_R->Q 0.000199681 509 chr19:10385665:G:A 1599_292_98_D->N 0.000199681 509 chr19:10385698:G:A 1599_325_109_V->M 0.000199681 509 chr19:10394168:C:T 1599_343_115_R->W 0.000399361 509 chr19:10394280:G:A 1599_455_152_R->H 0.000199681 509 chr19:10394290:G:C 1599_465_155_K->N 0.000199681 509 chr19:10394396:G:C 1599_571_191_D->H 0.000798722 509 chr19:10394412:G:A 1599_587_196_G->E 0.000199681 509 chr19:10394438:G:A 1599_613_205_A->T 0.000199681 509 chr19:10394455:G:T 1599_630_210_Q->H 0.000199681 509 chr19:10394724:C:T 1599_653_218_P->L 0.000798722 509 chr19:10394727:C:G 1599_656_219_P->R 0.000199681 509 chr19:10394730:A:G 1599_659_220_Q->R 0.000199681 509 chr19:10394778:T:C 1599_707_236_V->A 0.000199681 509 chr19:10394792:G:A 1599_721_241_G->R 0.0567093 509 chr19:10394891:G:A 1599_820_274_A->T 0.000199681 509 chr19:10394903:G:A 1599_832_278_V->M 0.000199681 509 chr19:10395096:G:A 1599_943_315_V->M 0.000599042 509 chr19:10395141:G:A 1599_988_330_V->M 0.00159744 509 chr19:10395175:C:T 1599_1022_341_T->M 0.000199681 509 chr19:10395208:C:T 1599_1055_352_P->L 0.0071885 509 chr19:10395249:G:A 1599_1096_366_G->R 0.000199681 509 chr19:10395252:C:T 1599_1099_367_R->C 0.00419329 509 chr19:10395253:G:A 1599_1100_367_R->H 0.000199681 509 chr19:10395315:C:T 1599_1162_388_R->W 0.000399361 509 chr19:10395468:G:A 1599_1190_397_R->Q 0.0103834 509 chr19:10395489:C:T 1599_1211_404_P->L 0.000998403 509 chr19:10395606:A:G 1599_1328_443_E->G 0.000199681 509 chr19:10395614:A:G 1599_1336_446_T->A 0.000199681 509 chr19:10395624:G:A 1599_1346_449_R->Q 0.000399361 509 chr19:10395650:C:T 1599_1372_458_R->W 0.000399361 509 chr19:10395678:C:T 1599_1400_467_T->I 0.000998403 509 chr19:10395683:A:G 1599_1405_469_K->E 0.358826 509 chr19:10395796:C:T 1599_1432_478_R->W 0.00279553 509 chr19:10395821:T:C 1599_1457_486_V->A 0.000199681 509 chr19:10395823:G:A 1599_1459_487_V->I 0.000199681 509 chr19:10395925:A:G 1599_1561_521_T->A 0.000199681 509 chr19:10395928:C:T 1599_1564_522_P->S 0.000199681 509 na12878 Variants: 509 chr19:10394792:G:A 1599_721_241_G->R 509 chr19:10395683:A:G 1599_1405_469_K->E 509 snyder Variants: 509 chr19:10395683:A:G 1599_1405_469_K->E 510 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000105607_ENST00000457854 gene_Name: GCDH_HUMAN 510 list of pdbs: 510 2R0N pdb_description: 22-Apr-08 X-ray 2.300 The effect of a glu370asp mutation in glutaryl-coa dehydrogenase on proton transfer to the dienolate intermediate 510 2R0M pdb_description: 22-Apr-08 X-ray 2.700 The effect of a glu370asp mutation in glutaryl-coa dehydrogenase on proton transfer to the dienolate intermediate 510 1SIR pdb_description: 07-Sep-04 X-ray 2.600 The crystal structure and mechanism of human glutaryl-coa dehydrogenase 510 1SIQ pdb_description: 07-Sep-04 X-ray 2.100 The crystal structure and mechanism of human glutaryl-coa dehydrogenase 510 Zimmer Variants: 510 chr19:13010520:A:G 1287_1250_417_Q->R;GNEG=Yes;GENE=GCDH;CDSS=2 510 HGMD Variants: 510 chr19:13002743:C:T 1287_226_76_Q->* 510 chr19:13004344:C:T 1287_382_128_R->* 510 chr19:13004373:C:G 1287_411_137_Y->* 510 chr19:13004440:C:T 1287_478_160_Q->* 510 chr19:13008214:C:T 1287_1054_352_Q->* 510 chr19:13008590:C:T 1287_1156_386_R->* 510 chr19:13008673:C:A 1287_1239_413_Y->* 510 chr19:13002665:T:C 1287_148_50_W->R 510 chr19:13002667:G:C 1287_150_50_W->C 510 chr19:13002674:C:T 1287_157_53_P->S 510 chr19:13002693:A:C 1287_176_59_Q->P 510 chr19:13002709:G:T 1287_192_64_E->D 510 chr19:13002729:T:C 1287_212_71_F->S 510 chr19:13002732:G:T 1287_215_72_R->L 510 chr19:13002759:C:T 1287_242_81_P->L 510 chr19:13002779:C:T 1287_262_88_R->C 510 chr19:13002780:G:A 1287_263_88_R->H 510 chr19:13002785:G:A 1287_268_90_E->K 510 chr19:13002939:G:T 1287_281_94_R->L 510 chr19:13002959:G:A 1287_301_101_G->R 510 chr19:13004299:T:C 1287_337_113_Y->H 510 chr19:13004306:G:A 1287_344_115_C->Y 510 chr19:13004318:C:T 1287_356_119_S->L 510 chr19:13004327:C:T 1287_365_122_A->V 510 chr19:13004333:G:A 1287_371_124_G->E 510 chr19:13004344:C:G 1287_382_128_R->G 510 chr19:13004345:G:A 1287_383_128_R->Q 510 chr19:13004357:G:A 1287_395_132_R->Q 510 chr19:13004359:G:A 1287_397_133_V->M 510 chr19:13004368:G:T 1287_406_136_G->C 510 chr19:13004374:A:G 1287_412_138_R->G 510 chr19:13004375:G:A 1287_413_138_R->K 510 chr19:13004378:C:G 1287_416_139_S->W 510 chr19:13004378:C:T 1287_416_139_S->L 510 chr19:13004389:G:A 1287_427_143_V->I 510 chr19:13004399:C:A 1287_437_146_S->Y 510 chr19:13004404:G:A 1287_442_148_V->I 510 chr19:13004425:T:C 1287_463_155_Y->H 510 chr19:13004426:A:G 1287_464_155_Y->C 510 chr19:13004429:G:T 1287_467_156_G->V 510 chr19:13004441:A:G 1287_479_160_Q->R 510 chr19:13004444:G:A 1287_482_161_R->Q 510 chr19:13006808:A:G 1287_508_170_K->E 510 chr19:13006826:T:C 1287_526_176_C->R 510 chr19:13006832:G:A 1287_532_178_G->R 510 chr19:13006833:G:A 1287_533_178_G->E 510 chr19:13006836:T:G 1287_536_179_L->R 510 chr19:13006841:G:C 1287_541_181_E->Q 510 chr19:13006841:G:A 1287_541_181_E->K 510 chr19:13006842:A:G 1287_542_181_E->G 510 chr19:13006854:G:C 1287_554_185_G->A 510 chr19:13006856:A:T 1287_556_186_S->C 510 chr19:13006872:T:C 1287_572_191_M->T 510 chr19:13006883:G:A 1287_583_195_A->T 510 chr19:13007023:A:G 1287_640_214_T->A 510 chr19:13007033:C:T 1287_650_217_P->L 510 chr19:13007038:G:A 1287_655_219_A->T 510 chr19:13007041:G:A 1287_658_220_D->N 510 chr19:13007041:G:T 1287_658_220_D->Y 510 chr19:13007063:G:C 1287_680_227_R->P 510 chr19:13007066:G:T 1287_683_228_C->F 510 chr19:13007089:T:C 1287_706_236_F->L 510 chr19:13007096:T:C 1287_713_238_L->P 510 chr19:13007110:C:G 1287_727_243_R->G 510 chr19:13007113:G:A 1287_730_244_G->S 510 chr19:13007116:C:T 1287_733_245_L->F 510 chr19:13007126:C:T 1287_743_248_P->L 510 chr19:13007147:C:T 1287_764_255_S->L 510 chr19:13007152:C:T 1287_769_257_R->W 510 chr19:13007153:G:A 1287_770_257_R->Q 510 chr19:13007158:T:C 1287_775_259_S->P 510 chr19:13007170:A:G 1287_787_263_M->V 510 chr19:13007179:A:G 1287_796_266_M->V 510 chr19:13007180:T:C 1287_797_266_M->T 510 chr19:13007181:G:T 1287_798_266_M->I 510 chr19:13007186:G:T 1287_803_268_G->V 510 chr19:13007215:C:T 1287_832_278_P->S 510 chr19:13007216:C:G 1287_833_278_P->R 510 chr19:13007231:T:C 1287_848_283_L->P 510 chr19:13007748:G:A 1287_877_293_A->T 510 chr19:13007751:C:T 1287_880_294_R->W 510 chr19:13007754:T:C 1287_883_295_Y->H 510 chr19:13007772:G:A 1287_901_301_V->M 510 chr19:13007776:T:C 1287_905_302_L->P 510 chr19:13007781:G:A 1287_910_304_A->T 510 chr19:13007785:C:T 1287_914_305_S->L 510 chr19:13007793:T:C 1287_922_308_C->R 510 chr19:13007794:G:C 1287_923_308_C->S 510 chr19:13007797:T:G 1287_926_309_L->W 510 chr19:13007808:C:T 1287_937_313_R->W 510 chr19:13007809:G:A 1287_938_313_R->Q 510 chr19:13007818:C:A 1287_947_316_A->D 510 chr19:13008139:G:A 1287_979_327_A->T 510 chr19:13008157:C:G 1287_997_333_Q->E 510 chr19:13008175:A:G 1287_1015_339_M->V 510 chr19:13008181:A:C 1287_1021_341_T->P 510 chr19:13008182:C:T 1287_1022_341_T->I 510 chr19:13008205:G:A 1287_1045_349_A->T 510 chr19:13008220:G:A 1287_1060_354_G->S 510 chr19:13008220:G:C 1287_1060_354_G->R 510 chr19:13008221:G:C 1287_1061_354_G->A 510 chr19:13008223:C:T 1287_1063_355_R->C 510 chr19:13008224:G:A 1287_1064_355_R->H 510 chr19:13008241:A:G 1287_1081_361_K->E 510 chr19:13008527:G:A 1287_1093_365_E->K 510 chr19:13008549:G:A 1287_1115_372_R->K 510 chr19:13008557:T:C 1287_1123_375_C->R 510 chr19:13008578:G:A 1287_1144_382_A->T 510 chr19:13008581:C:T 1287_1147_383_R->C 510 chr19:13008582:G:A 1287_1148_383_R->H 510 chr19:13008588:C:T 1287_1154_385_A->V 510 chr19:13008590:C:G 1287_1156_386_R->G 510 chr19:13008591:G:A 1287_1157_386_R->Q 510 chr19:13008602:G:C 1287_1168_390_G->R 510 chr19:13008603:G:C 1287_1169_390_G->A 510 chr19:13008603:G:T 1287_1169_390_G->V 510 chr19:13008608:A:G 1287_1174_392_N->D 510 chr19:13008609:A:G 1287_1175_392_N->S 510 chr19:13008627:A:G 1287_1193_398_Y->C 510 chr19:13008632:G:A 1287_1198_400_V->M 510 chr19:13008638:C:T 1287_1204_402_R->W 510 chr19:13008639:G:A 1287_1205_402_R->Q 510 chr19:13008641:C:T 1287_1207_403_H->Y 510 chr19:13008642:A:G 1287_1208_403_H->R 510 chr19:13008647:A:G 1287_1213_405_M->V 510 chr19:13008652:C:G 1287_1218_406_N->K 510 chr19:13008654:T:C 1287_1220_407_L->P 510 chr19:13008671:T:G 1287_1237_413_Y->D 510 chr19:13008674:G:A 1287_1240_414_E->K 510 oneKG Variants: 510 chr19:13002143:C:T 1287_25_9_R->W 0.000199681 510 chr19:13002156:G:A 1287_38_13_R->H 0.00179712 510 chr19:13002648:C:G 1287_131_44_S->W 0.000199681 510 chr19:13002734:A:G 1287_217_73_T->A 0.000199681 510 chr19:13002939:G:A 1287_281_94_R->Q 0.000199681 510 chr19:13004357:G:A 1287_395_132_R->Q 0.000199681 510 chr19:13004390:T:C 1287_428_143_V->A 0.000199681 510 chr19:13007110:C:T 1287_727_243_R->W 0.000199681 510 chr19:13007114:G:A 1287_731_244_G->D 0.000199681 510 chr19:13007155:G:T 1287_772_258_A->S 0.000199681 510 chr19:13007757:G:A 1287_886_296_G->S 0.000998403 510 chr19:13008519:C:A 1287_1085_362_A->D 0.00599042 510 chr19:13008527:G:A 1287_1093_365_E->K 0.000199681 510 chr19:13008578:G:A 1287_1144_382_A->T 0.000199681 510 chr19:13008598:G:C 1287_1164_388_M->I 0.000199681 510 chr19:13008615:T:G 1287_1181_394_I->S 0.000199681 510 chr19:13008632:G:A 1287_1198_400_V->M 0.000199681 510 chr19:13008644:G:A 1287_1210_404_A->T 0.000998403 510 chr19:13008647:A:G 1287_1213_405_M->V 0.000399361 510 chr19:13010516:G:A 1287_1246_416_V->I 0.0145767 510 chr19:13010520:A:G 1287_1250_417_Q->R 0.279553 510 na12878 Variants: 510 chr19:13010520:A:G 1287_1250_417_Q->R 510 snyder Variants: 510 chr19:13010520:A:G 1287_1250_417_Q->R 511 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000448121 gene_Name: NALP7_HUMAN 511 list of pdbs: 511 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 511 Zimmer Variants: 511 chr19:55451232:C:T 3030_955_319_V->I 511 HGMD Variants: 511 chr19:55441884:A:T 3030_2709_903_C->* 511 chr19:55444963:G:T 3030_2532_844_Y->* 511 chr19:55445860:A:T 3030_2384_795_L->* 511 chr19:55445994:C:T 3030_2250_750_W->* 511 chr19:55449523:G:C 3030_1934_645_S->* 511 chr19:55450479:C:A 3030_1708_570_E->* 511 chr19:55450893:G:A 3030_1294_432_R->* 511 chr19:55451494:C:T 3030_693_231_W->* 511 chr19:55452305:T:A 3030_346_116_K->* 511 chr19:55452356:C:A 3030_295_99_E->* 511 chr19:55439063:A:G 3030_2807_936_L->P 511 chr19:55441939:T:C 3030_2654_885_N->S 511 chr19:55444940:A:G 3030_2555_852_L->S 511 chr19:55445884:C:T 3030_2360_787_R->H 511 chr19:55447647:C:T 3030_2198_733_C->Y 511 chr19:55447681:G:C 3030_2164_722_L->V 511 chr19:55447764:T:C 3030_2081_694_D->G 511 chr19:55447768:G:A 3030_2077_693_R->W 511 chr19:55447773:G:A 3030_2072_691_A->V 511 chr19:55447783:G:C 3030_2062_688_P->A 511 chr19:55449440:G:A 3030_2017_673_R->C 511 chr19:55449463:C:T 3030_1994_665_R->Q 511 chr19:55449463:C:G 3030_1994_665_R->P 511 chr19:55449464:G:A 3030_1993_665_R->W 511 chr19:55450655:T:C 3030_1532_511_K->R 511 chr19:55450707:C:T 3030_1480_494_A->T 511 chr19:55450727:C:T 3030_1460_487_G->E 511 chr19:55450746:C:T 3030_1441_481_A->T 511 chr19:55450949:C:T 3030_1238_413_R->Q 511 chr19:55450950:G:A 3030_1237_413_R->W 511 chr19:55450991:C:T 3030_1196_399_C->Y 511 chr19:55450994:A:C 3030_1193_398_L->R 511 chr19:55451018:C:T 3030_1169_390_R->H 511 chr19:55451049:C:G 3030_1138_380_G->R 511 chr19:55451050:C:G 3030_1137_379_K->N 511 chr19:55451169:C:T 3030_1018_340_E->K 511 chr19:55451437:G:T 3030_750_250_F->L 511 chr19:55451643:C:T 3030_544_182_V->M 511 chr19:55451720:C:T 3030_467_156_R->Q 511 chr19:55452829:C:T 3030_251_84_C->Y 511 oneKG Variants: 511 chr19:55450747:G:T 3030_1440_480_Y->* 0.000199681 511 chr19:55435130:G:A 3030_3008_1003_P->L 0.000199681 511 chr19:55435140:T:C 3030_2998_1000_T->A 0.0227636 511 chr19:55435229:T:C 3030_2909_970_Y->C 0.000199681 511 chr19:55439036:T:A 3030_2834_945_K->M 0.000199681 511 chr19:55441871:G:T 3030_2722_908_L->I 0.000399361 511 chr19:55441889:T:A 3030_2704_902_N->Y 0.000199681 511 chr19:55441939:T:C 3030_2654_885_N->S 0.000599042 511 chr19:55444939:C:A 3030_2556_852_L->F 0.000199681 511 chr19:55445072:T:C 3030_2423_808_K->R 0.000199681 511 chr19:55445082:C:T 3030_2413_805_A->T 0.000399361 511 chr19:55445857:G:A 3030_2387_796_S->L 0.000199681 511 chr19:55445875:T:C 3030_2369_790_H->R 0.000199681 511 chr19:55445884:C:T 3030_2360_787_R->H 0.00239617 511 chr19:55445908:A:C 3030_2336_779_M->R 0.000199681 511 chr19:55445932:T:C 3030_2312_771_N->S 0.000199681 511 chr19:55445939:A:G 3030_2305_769_S->P 0.000199681 511 chr19:55445944:C:A 3030_2300_767_R->L 0.000998403 511 chr19:55445945:G:A 3030_2299_767_R->C 0.00339457 511 chr19:55446005:G:T 3030_2239_747_P->T 0.000199681 511 chr19:55446027:C:A 3030_2217_739_R->S 0.000199681 511 chr19:55447681:G:C 3030_2164_722_L->V 0.000199681 511 chr19:55447710:C:T 3030_2135_712_G->E 0.000399361 511 chr19:55447728:G:A 3030_2117_706_T->M 0.000998403 511 chr19:55447773:G:A 3030_2072_691_A->V 0.000199681 511 chr19:55447789:C:T 3030_2056_686_V->I 0.000199681 511 chr19:55449446:C:T 3030_2011_671_V->I 0.00778754 511 chr19:55450308:C:G 3030_1879_627_G->R 0.000399361 511 chr19:55450328:A:T 3030_1859_620_L->H 0.000199681 511 chr19:55450351:C:A 3030_1836_612_K->N 0.000199681 511 chr19:55450364:G:C 3030_1823_608_S->C 0.000199681 511 chr19:55450425:C:T 3030_1762_588_V->M 0.000199681 511 chr19:55450469:C:T 3030_1718_573_G->D 0.00119808 511 chr19:55450573:A:T 3030_1614_538_F->L 0.000399361 511 chr19:55450655:T:C 3030_1532_511_K->R 0.0247604 511 chr19:55450665:C:T 3030_1522_508_E->K 0.000199681 511 chr19:55450667:T:A 3030_1520_507_E->V 0.00119808 511 chr19:55450690:G:C 3030_1497_499_D->E 0.000199681 511 chr19:55450695:C:T 3030_1492_498_G->R 0.000399361 511 chr19:55450713:C:T 3030_1474_492_G->S 0.000199681 511 chr19:55450727:C:T 3030_1460_487_G->E 0.125599 511 chr19:55450746:C:T 3030_1441_481_A->T 0.0908546 511 chr19:55450826:A:T 3030_1361_454_L->H 0.000199681 511 chr19:55450856:T:G 3030_1331_444_D->A 0.000199681 511 chr19:55450888:C:G 3030_1299_433_E->D 0.00119808 511 chr19:55450892:C:A 3030_1295_432_R->L 0.000998403 511 chr19:55450907:A:G 3030_1280_427_M->T 0.000798722 511 chr19:55450950:G:A 3030_1237_413_R->W 0.00179712 511 chr19:55451016:T:C 3030_1171_391_T->A 0.000199681 511 chr19:55451018:C:T 3030_1169_390_R->H 0.00279553 511 chr19:55451019:G:A 3030_1168_390_R->C 0.000998403 511 chr19:55451049:C:G 3030_1138_380_G->R 0.00119808 511 chr19:55451050:C:G,T 3030_1137_379_K->N 0.00339457 511 chr19:55451170:G:T 3030_1017_339_D->E 0.000399361 511 chr19:55451232:C:T 3030_955_319_V->I 0.288938 511 chr19:55451256:G:T 3030_931_311_L->I 0.00519169 511 chr19:55451257:C:A 3030_930_310_Q->H 0.00119808 511 chr19:55451258:T:C 3030_929_310_Q->R 0.00519169 511 chr19:55451262:G:A 3030_925_309_L->F 0.000199681 511 chr19:55451282:C:T 3030_905_302_R->Q 0.000199681 511 chr19:55451352:C:A 3030_835_279_V->L 0.000798722 511 chr19:55451357:T:G 3030_830_277_K->T 0.000399361 511 chr19:55451396:G:A 3030_791_264_A->V 0.000399361 511 chr19:55451397:C:T 3030_790_264_A->T 0.000199681 511 chr19:55451436:C:T 3030_751_251_V->M 0.000599042 511 chr19:55451438:A:C 3030_749_250_F->C 0.000199681 511 chr19:55451468:C:T 3030_719_240_S->N 0.000199681 511 chr19:55451486:A:G 3030_701_234_L->S 0.00499201 511 chr19:55451613:T:G 3030_574_192_M->L 0.000798722 511 chr19:55451720:C:T 3030_467_156_R->Q 0.00159744 511 chr19:55451811:A:C 3030_376_126_S->A 0.000599042 511 chr19:55452335:C:T 3030_316_106_G->R 0.000399361 511 chr19:55452353:T:C 3030_298_100_I->V 0.000998403 511 chr19:55452809:T:C 3030_271_91_M->V 0.000199681 511 chr19:55452829:C:T 3030_251_84_C->Y 0.00139776 511 chr19:55452849:C:G 3030_231_77_E->D 0.000199681 511 chr19:55453054:G:T 3030_26_9_T->N 0.000199681 511 na12878 Variants: 511 chr19:55451232:C:T 3030_955_319_V->I 511 snyder Variants: 511 chr19:55451256:G:T 3030_931_311_L->I 511 chr19:55451258:T:C 3030_929_310_Q->R 512 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000340844 gene_Name: NALP7_HUMAN 512 list of pdbs: 512 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 512 Zimmer Variants: 512 chr19:55451232:C:T 2943_955_319_V->I 512 HGMD Variants: 512 chr19:55441884:A:T 2943_2793_931_C->* 512 chr19:55444963:G:T 2943_2616_872_Y->* 512 chr19:55445860:A:T 2943_2468_823_L->* 512 chr19:55445994:C:T 2943_2334_778_W->* 512 chr19:55449523:G:C 2943_2018_673_S->* 512 chr19:55450479:C:A 2943_1708_570_E->* 512 chr19:55450893:G:A 2943_1294_432_R->* 512 chr19:55451494:C:T 2943_693_231_W->* 512 chr19:55452305:T:A 2943_346_116_K->* 512 chr19:55452356:C:A 2943_295_99_E->* 512 chr19:55441939:T:C 2943_2738_913_N->S 512 chr19:55444940:A:G 2943_2639_880_L->S 512 chr19:55445884:C:T 2943_2444_815_R->H 512 chr19:55447647:C:T 2943_2282_761_C->Y 512 chr19:55447681:G:C 2943_2248_750_L->V 512 chr19:55447764:T:C 2943_2165_722_D->G 512 chr19:55447768:G:A 2943_2161_721_R->W 512 chr19:55447773:G:A 2943_2156_719_A->V 512 chr19:55447783:G:C 2943_2146_716_P->A 512 chr19:55449440:G:A 2943_2101_701_R->C 512 chr19:55449463:C:T 2943_2078_693_R->Q 512 chr19:55449463:C:G 2943_2078_693_R->P 512 chr19:55449464:G:A 2943_2077_693_R->W 512 chr19:55449560:G:A 2943_1981_661_L->F 512 chr19:55449571:T:A 2943_1970_657_D->V 512 chr19:55449590:G:A 2943_1951_651_P->S 512 chr19:55450655:T:C 2943_1532_511_K->R 512 chr19:55450707:C:T 2943_1480_494_A->T 512 chr19:55450727:C:T 2943_1460_487_G->E 512 chr19:55450746:C:T 2943_1441_481_A->T 512 chr19:55450949:C:T 2943_1238_413_R->Q 512 chr19:55450950:G:A 2943_1237_413_R->W 512 chr19:55450991:C:T 2943_1196_399_C->Y 512 chr19:55450994:A:C 2943_1193_398_L->R 512 chr19:55451018:C:T 2943_1169_390_R->H 512 chr19:55451049:C:G 2943_1138_380_G->R 512 chr19:55451050:C:G 2943_1137_379_K->N 512 chr19:55451169:C:T 2943_1018_340_E->K 512 chr19:55451437:G:T 2943_750_250_F->L 512 chr19:55451643:C:T 2943_544_182_V->M 512 chr19:55451720:C:T 2943_467_156_R->Q 512 chr19:55452829:C:T 2943_251_84_C->Y 512 oneKG Variants: 512 chr19:55450747:G:T 2943_1440_480_Y->* 0.000199681 512 chr19:55435130:G:A 2943_2921_974_P->L 0.000199681 512 chr19:55435140:T:C 2943_2911_971_T->A 0.0227636 512 chr19:55435229:T:C 2943_2822_941_Y->C 0.000199681 512 chr19:55441871:G:T 2943_2806_936_L->I 0.000399361 512 chr19:55441889:T:A 2943_2788_930_N->Y 0.000199681 512 chr19:55441939:T:C 2943_2738_913_N->S 0.000599042 512 chr19:55444939:C:A 2943_2640_880_L->F 0.000199681 512 chr19:55445072:T:C 2943_2507_836_K->R 0.000199681 512 chr19:55445082:C:T 2943_2497_833_A->T 0.000399361 512 chr19:55445857:G:A 2943_2471_824_S->L 0.000199681 512 chr19:55445875:T:C 2943_2453_818_H->R 0.000199681 512 chr19:55445884:C:T 2943_2444_815_R->H 0.00239617 512 chr19:55445908:A:C 2943_2420_807_M->R 0.000199681 512 chr19:55445932:T:C 2943_2396_799_N->S 0.000199681 512 chr19:55445939:A:G 2943_2389_797_S->P 0.000199681 512 chr19:55445944:C:A 2943_2384_795_R->L 0.000998403 512 chr19:55445945:G:A 2943_2383_795_R->C 0.00339457 512 chr19:55446005:G:T 2943_2323_775_P->T 0.000199681 512 chr19:55446027:C:A 2943_2301_767_R->S 0.000199681 512 chr19:55447681:G:C 2943_2248_750_L->V 0.000199681 512 chr19:55447710:C:T 2943_2219_740_G->E 0.000399361 512 chr19:55447728:G:A 2943_2201_734_T->M 0.000998403 512 chr19:55447773:G:A 2943_2156_719_A->V 0.000199681 512 chr19:55447789:C:T 2943_2140_714_V->I 0.000199681 512 chr19:55449446:C:T 2943_2095_699_V->I 0.00778754 512 chr19:55449556:C:T 2943_1985_662_R->H 0.000199681 512 chr19:55449578:G:A 2943_1963_655_R->W 0.000199681 512 chr19:55450308:C:G 2943_1879_627_G->R 0.000399361 512 chr19:55450328:A:T 2943_1859_620_L->H 0.000199681 512 chr19:55450351:C:A 2943_1836_612_K->N 0.000199681 512 chr19:55450364:G:C 2943_1823_608_S->C 0.000199681 512 chr19:55450425:C:T 2943_1762_588_V->M 0.000199681 512 chr19:55450469:C:T 2943_1718_573_G->D 0.00119808 512 chr19:55450573:A:T 2943_1614_538_F->L 0.000399361 512 chr19:55450655:T:C 2943_1532_511_K->R 0.0247604 512 chr19:55450665:C:T 2943_1522_508_E->K 0.000199681 512 chr19:55450667:T:A 2943_1520_507_E->V 0.00119808 512 chr19:55450690:G:C 2943_1497_499_D->E 0.000199681 512 chr19:55450695:C:T 2943_1492_498_G->R 0.000399361 512 chr19:55450713:C:T 2943_1474_492_G->S 0.000199681 512 chr19:55450727:C:T 2943_1460_487_G->E 0.125599 512 chr19:55450746:C:T 2943_1441_481_A->T 0.0908546 512 chr19:55450826:A:T 2943_1361_454_L->H 0.000199681 512 chr19:55450856:T:G 2943_1331_444_D->A 0.000199681 512 chr19:55450888:C:G 2943_1299_433_E->D 0.00119808 512 chr19:55450892:C:A 2943_1295_432_R->L 0.000998403 512 chr19:55450907:A:G 2943_1280_427_M->T 0.000798722 512 chr19:55450950:G:A 2943_1237_413_R->W 0.00179712 512 chr19:55451016:T:C 2943_1171_391_T->A 0.000199681 512 chr19:55451018:C:T 2943_1169_390_R->H 0.00279553 512 chr19:55451019:G:A 2943_1168_390_R->C 0.000998403 512 chr19:55451049:C:G 2943_1138_380_G->R 0.00119808 512 chr19:55451050:C:G,T 2943_1137_379_K->N 0.00339457 512 chr19:55451170:G:T 2943_1017_339_D->E 0.000399361 512 chr19:55451232:C:T 2943_955_319_V->I 0.288938 512 chr19:55451256:G:T 2943_931_311_L->I 0.00519169 512 chr19:55451257:C:A 2943_930_310_Q->H 0.00119808 512 chr19:55451258:T:C 2943_929_310_Q->R 0.00519169 512 chr19:55451262:G:A 2943_925_309_L->F 0.000199681 512 chr19:55451282:C:T 2943_905_302_R->Q 0.000199681 512 chr19:55451352:C:A 2943_835_279_V->L 0.000798722 512 chr19:55451357:T:G 2943_830_277_K->T 0.000399361 512 chr19:55451396:G:A 2943_791_264_A->V 0.000399361 512 chr19:55451397:C:T 2943_790_264_A->T 0.000199681 512 chr19:55451436:C:T 2943_751_251_V->M 0.000599042 512 chr19:55451438:A:C 2943_749_250_F->C 0.000199681 512 chr19:55451468:C:T 2943_719_240_S->N 0.000199681 512 chr19:55451486:A:G 2943_701_234_L->S 0.00499201 512 chr19:55451613:T:G 2943_574_192_M->L 0.000798722 512 chr19:55451720:C:T 2943_467_156_R->Q 0.00159744 512 chr19:55451811:A:C 2943_376_126_S->A 0.000599042 512 chr19:55452335:C:T 2943_316_106_G->R 0.000399361 512 chr19:55452353:T:C 2943_298_100_I->V 0.000998403 512 chr19:55452809:T:C 2943_271_91_M->V 0.000199681 512 chr19:55452829:C:T 2943_251_84_C->Y 0.00139776 512 chr19:55452849:C:G 2943_231_77_E->D 0.000199681 512 chr19:55453054:G:T 2943_26_9_T->N 0.000199681 512 na12878 Variants: 512 chr19:55451232:C:T 2943_955_319_V->I 512 snyder Variants: 512 chr19:55451256:G:T 2943_931_311_L->I 512 chr19:55451258:T:C 2943_929_310_Q->R 513 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000328092 gene_Name: NALP7_HUMAN 513 list of pdbs: 513 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 513 Zimmer Variants: 513 chr19:55451232:C:T 3030_955_319_V->I 513 HGMD Variants: 513 chr19:55441884:A:T 3030_2709_903_C->* 513 chr19:55444963:G:T 3030_2532_844_Y->* 513 chr19:55445860:A:T 3030_2384_795_L->* 513 chr19:55445994:C:T 3030_2250_750_W->* 513 chr19:55449523:G:C 3030_1934_645_S->* 513 chr19:55450479:C:A 3030_1708_570_E->* 513 chr19:55450893:G:A 3030_1294_432_R->* 513 chr19:55451494:C:T 3030_693_231_W->* 513 chr19:55452305:T:A 3030_346_116_K->* 513 chr19:55452356:C:A 3030_295_99_E->* 513 chr19:55439063:A:G 3030_2807_936_L->P 513 chr19:55441939:T:C 3030_2654_885_N->S 513 chr19:55444940:A:G 3030_2555_852_L->S 513 chr19:55445884:C:T 3030_2360_787_R->H 513 chr19:55447647:C:T 3030_2198_733_C->Y 513 chr19:55447681:G:C 3030_2164_722_L->V 513 chr19:55447764:T:C 3030_2081_694_D->G 513 chr19:55447768:G:A 3030_2077_693_R->W 513 chr19:55447773:G:A 3030_2072_691_A->V 513 chr19:55447783:G:C 3030_2062_688_P->A 513 chr19:55449440:G:A 3030_2017_673_R->C 513 chr19:55449463:C:T 3030_1994_665_R->Q 513 chr19:55449463:C:G 3030_1994_665_R->P 513 chr19:55449464:G:A 3030_1993_665_R->W 513 chr19:55450655:T:C 3030_1532_511_K->R 513 chr19:55450707:C:T 3030_1480_494_A->T 513 chr19:55450727:C:T 3030_1460_487_G->E 513 chr19:55450746:C:T 3030_1441_481_A->T 513 chr19:55450949:C:T 3030_1238_413_R->Q 513 chr19:55450950:G:A 3030_1237_413_R->W 513 chr19:55450991:C:T 3030_1196_399_C->Y 513 chr19:55450994:A:C 3030_1193_398_L->R 513 chr19:55451018:C:T 3030_1169_390_R->H 513 chr19:55451049:C:G 3030_1138_380_G->R 513 chr19:55451050:C:G 3030_1137_379_K->N 513 chr19:55451169:C:T 3030_1018_340_E->K 513 chr19:55451437:G:T 3030_750_250_F->L 513 chr19:55451643:C:T 3030_544_182_V->M 513 chr19:55451720:C:T 3030_467_156_R->Q 513 chr19:55452829:C:T 3030_251_84_C->Y 513 oneKG Variants: 513 chr19:55450747:G:T 3030_1440_480_Y->* 0.000199681 513 chr19:55435130:G:A 3030_3008_1003_P->L 0.000199681 513 chr19:55435140:T:C 3030_2998_1000_T->A 0.0227636 513 chr19:55435229:T:C 3030_2909_970_Y->C 0.000199681 513 chr19:55439036:T:A 3030_2834_945_K->M 0.000199681 513 chr19:55441871:G:T 3030_2722_908_L->I 0.000399361 513 chr19:55441889:T:A 3030_2704_902_N->Y 0.000199681 513 chr19:55441939:T:C 3030_2654_885_N->S 0.000599042 513 chr19:55444939:C:A 3030_2556_852_L->F 0.000199681 513 chr19:55445072:T:C 3030_2423_808_K->R 0.000199681 513 chr19:55445082:C:T 3030_2413_805_A->T 0.000399361 513 chr19:55445857:G:A 3030_2387_796_S->L 0.000199681 513 chr19:55445875:T:C 3030_2369_790_H->R 0.000199681 513 chr19:55445884:C:T 3030_2360_787_R->H 0.00239617 513 chr19:55445908:A:C 3030_2336_779_M->R 0.000199681 513 chr19:55445932:T:C 3030_2312_771_N->S 0.000199681 513 chr19:55445939:A:G 3030_2305_769_S->P 0.000199681 513 chr19:55445944:C:A 3030_2300_767_R->L 0.000998403 513 chr19:55445945:G:A 3030_2299_767_R->C 0.00339457 513 chr19:55446005:G:T 3030_2239_747_P->T 0.000199681 513 chr19:55446027:C:A 3030_2217_739_R->S 0.000199681 513 chr19:55447681:G:C 3030_2164_722_L->V 0.000199681 513 chr19:55447710:C:T 3030_2135_712_G->E 0.000399361 513 chr19:55447728:G:A 3030_2117_706_T->M 0.000998403 513 chr19:55447773:G:A 3030_2072_691_A->V 0.000199681 513 chr19:55447789:C:T 3030_2056_686_V->I 0.000199681 513 chr19:55449446:C:T 3030_2011_671_V->I 0.00778754 513 chr19:55450308:C:G 3030_1879_627_G->R 0.000399361 513 chr19:55450328:A:T 3030_1859_620_L->H 0.000199681 513 chr19:55450351:C:A 3030_1836_612_K->N 0.000199681 513 chr19:55450364:G:C 3030_1823_608_S->C 0.000199681 513 chr19:55450425:C:T 3030_1762_588_V->M 0.000199681 513 chr19:55450469:C:T 3030_1718_573_G->D 0.00119808 513 chr19:55450573:A:T 3030_1614_538_F->L 0.000399361 513 chr19:55450655:T:C 3030_1532_511_K->R 0.0247604 513 chr19:55450665:C:T 3030_1522_508_E->K 0.000199681 513 chr19:55450667:T:A 3030_1520_507_E->V 0.00119808 513 chr19:55450690:G:C 3030_1497_499_D->E 0.000199681 513 chr19:55450695:C:T 3030_1492_498_G->R 0.000399361 513 chr19:55450713:C:T 3030_1474_492_G->S 0.000199681 513 chr19:55450727:C:T 3030_1460_487_G->E 0.125599 513 chr19:55450746:C:T 3030_1441_481_A->T 0.0908546 513 chr19:55450826:A:T 3030_1361_454_L->H 0.000199681 513 chr19:55450856:T:G 3030_1331_444_D->A 0.000199681 513 chr19:55450888:C:G 3030_1299_433_E->D 0.00119808 513 chr19:55450892:C:A 3030_1295_432_R->L 0.000998403 513 chr19:55450907:A:G 3030_1280_427_M->T 0.000798722 513 chr19:55450950:G:A 3030_1237_413_R->W 0.00179712 513 chr19:55451016:T:C 3030_1171_391_T->A 0.000199681 513 chr19:55451018:C:T 3030_1169_390_R->H 0.00279553 513 chr19:55451019:G:A 3030_1168_390_R->C 0.000998403 513 chr19:55451049:C:G 3030_1138_380_G->R 0.00119808 513 chr19:55451050:C:G,T 3030_1137_379_K->N 0.00339457 513 chr19:55451170:G:T 3030_1017_339_D->E 0.000399361 513 chr19:55451232:C:T 3030_955_319_V->I 0.288938 513 chr19:55451256:G:T 3030_931_311_L->I 0.00519169 513 chr19:55451257:C:A 3030_930_310_Q->H 0.00119808 513 chr19:55451258:T:C 3030_929_310_Q->R 0.00519169 513 chr19:55451262:G:A 3030_925_309_L->F 0.000199681 513 chr19:55451282:C:T 3030_905_302_R->Q 0.000199681 513 chr19:55451352:C:A 3030_835_279_V->L 0.000798722 513 chr19:55451357:T:G 3030_830_277_K->T 0.000399361 513 chr19:55451396:G:A 3030_791_264_A->V 0.000399361 513 chr19:55451397:C:T 3030_790_264_A->T 0.000199681 513 chr19:55451436:C:T 3030_751_251_V->M 0.000599042 513 chr19:55451438:A:C 3030_749_250_F->C 0.000199681 513 chr19:55451468:C:T 3030_719_240_S->N 0.000199681 513 chr19:55451486:A:G 3030_701_234_L->S 0.00499201 513 chr19:55451613:T:G 3030_574_192_M->L 0.000798722 513 chr19:55451720:C:T 3030_467_156_R->Q 0.00159744 513 chr19:55451811:A:C 3030_376_126_S->A 0.000599042 513 chr19:55452335:C:T 3030_316_106_G->R 0.000399361 513 chr19:55452353:T:C 3030_298_100_I->V 0.000998403 513 chr19:55452809:T:C 3030_271_91_M->V 0.000199681 513 chr19:55452829:C:T 3030_251_84_C->Y 0.00139776 513 chr19:55452849:C:G 3030_231_77_E->D 0.000199681 513 chr19:55453054:G:T 3030_26_9_T->N 0.000199681 513 na12878 Variants: 513 chr19:55451232:C:T 3030_955_319_V->I 513 snyder Variants: 513 chr19:55451256:G:T 3030_931_311_L->I 513 chr19:55451258:T:C 3030_929_310_Q->R 514 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000590030 gene_Name: NALP7_HUMAN 514 list of pdbs: 514 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 514 Zimmer Variants: 514 chr19:55451232:C:T 2943_955_319_V->I 514 HGMD Variants: 514 chr19:55441884:A:T 2943_2793_931_C->* 514 chr19:55444963:G:T 2943_2616_872_Y->* 514 chr19:55445860:A:T 2943_2468_823_L->* 514 chr19:55445994:C:T 2943_2334_778_W->* 514 chr19:55449523:G:C 2943_2018_673_S->* 514 chr19:55450479:C:A 2943_1708_570_E->* 514 chr19:55450893:G:A 2943_1294_432_R->* 514 chr19:55451494:C:T 2943_693_231_W->* 514 chr19:55452305:T:A 2943_346_116_K->* 514 chr19:55452356:C:A 2943_295_99_E->* 514 chr19:55441939:T:C 2943_2738_913_N->S 514 chr19:55444940:A:G 2943_2639_880_L->S 514 chr19:55445884:C:T 2943_2444_815_R->H 514 chr19:55447647:C:T 2943_2282_761_C->Y 514 chr19:55447681:G:C 2943_2248_750_L->V 514 chr19:55447764:T:C 2943_2165_722_D->G 514 chr19:55447768:G:A 2943_2161_721_R->W 514 chr19:55447773:G:A 2943_2156_719_A->V 514 chr19:55447783:G:C 2943_2146_716_P->A 514 chr19:55449440:G:A 2943_2101_701_R->C 514 chr19:55449463:C:T 2943_2078_693_R->Q 514 chr19:55449463:C:G 2943_2078_693_R->P 514 chr19:55449464:G:A 2943_2077_693_R->W 514 chr19:55449560:G:A 2943_1981_661_L->F 514 chr19:55449571:T:A 2943_1970_657_D->V 514 chr19:55449590:G:A 2943_1951_651_P->S 514 chr19:55450655:T:C 2943_1532_511_K->R 514 chr19:55450707:C:T 2943_1480_494_A->T 514 chr19:55450727:C:T 2943_1460_487_G->E 514 chr19:55450746:C:T 2943_1441_481_A->T 514 chr19:55450949:C:T 2943_1238_413_R->Q 514 chr19:55450950:G:A 2943_1237_413_R->W 514 chr19:55450991:C:T 2943_1196_399_C->Y 514 chr19:55450994:A:C 2943_1193_398_L->R 514 chr19:55451018:C:T 2943_1169_390_R->H 514 chr19:55451049:C:G 2943_1138_380_G->R 514 chr19:55451050:C:G 2943_1137_379_K->N 514 chr19:55451169:C:T 2943_1018_340_E->K 514 chr19:55451437:G:T 2943_750_250_F->L 514 chr19:55451643:C:T 2943_544_182_V->M 514 chr19:55451720:C:T 2943_467_156_R->Q 514 chr19:55452829:C:T 2943_251_84_C->Y 514 oneKG Variants: 514 chr19:55450747:G:T 2943_1440_480_Y->* 0.000199681 514 chr19:55435130:G:A 2943_2921_974_P->L 0.000199681 514 chr19:55435140:T:C 2943_2911_971_T->A 0.0227636 514 chr19:55435229:T:C 2943_2822_941_Y->C 0.000199681 514 chr19:55441871:G:T 2943_2806_936_L->I 0.000399361 514 chr19:55441889:T:A 2943_2788_930_N->Y 0.000199681 514 chr19:55441939:T:C 2943_2738_913_N->S 0.000599042 514 chr19:55444939:C:A 2943_2640_880_L->F 0.000199681 514 chr19:55445072:T:C 2943_2507_836_K->R 0.000199681 514 chr19:55445082:C:T 2943_2497_833_A->T 0.000399361 514 chr19:55445857:G:A 2943_2471_824_S->L 0.000199681 514 chr19:55445875:T:C 2943_2453_818_H->R 0.000199681 514 chr19:55445884:C:T 2943_2444_815_R->H 0.00239617 514 chr19:55445908:A:C 2943_2420_807_M->R 0.000199681 514 chr19:55445932:T:C 2943_2396_799_N->S 0.000199681 514 chr19:55445939:A:G 2943_2389_797_S->P 0.000199681 514 chr19:55445944:C:A 2943_2384_795_R->L 0.000998403 514 chr19:55445945:G:A 2943_2383_795_R->C 0.00339457 514 chr19:55446005:G:T 2943_2323_775_P->T 0.000199681 514 chr19:55446027:C:A 2943_2301_767_R->S 0.000199681 514 chr19:55447681:G:C 2943_2248_750_L->V 0.000199681 514 chr19:55447710:C:T 2943_2219_740_G->E 0.000399361 514 chr19:55447728:G:A 2943_2201_734_T->M 0.000998403 514 chr19:55447773:G:A 2943_2156_719_A->V 0.000199681 514 chr19:55447789:C:T 2943_2140_714_V->I 0.000199681 514 chr19:55449446:C:T 2943_2095_699_V->I 0.00778754 514 chr19:55449556:C:T 2943_1985_662_R->H 0.000199681 514 chr19:55449578:G:A 2943_1963_655_R->W 0.000199681 514 chr19:55450308:C:G 2943_1879_627_G->R 0.000399361 514 chr19:55450328:A:T 2943_1859_620_L->H 0.000199681 514 chr19:55450351:C:A 2943_1836_612_K->N 0.000199681 514 chr19:55450364:G:C 2943_1823_608_S->C 0.000199681 514 chr19:55450425:C:T 2943_1762_588_V->M 0.000199681 514 chr19:55450469:C:T 2943_1718_573_G->D 0.00119808 514 chr19:55450573:A:T 2943_1614_538_F->L 0.000399361 514 chr19:55450655:T:C 2943_1532_511_K->R 0.0247604 514 chr19:55450665:C:T 2943_1522_508_E->K 0.000199681 514 chr19:55450667:T:A 2943_1520_507_E->V 0.00119808 514 chr19:55450690:G:C 2943_1497_499_D->E 0.000199681 514 chr19:55450695:C:T 2943_1492_498_G->R 0.000399361 514 chr19:55450713:C:T 2943_1474_492_G->S 0.000199681 514 chr19:55450727:C:T 2943_1460_487_G->E 0.125599 514 chr19:55450746:C:T 2943_1441_481_A->T 0.0908546 514 chr19:55450826:A:T 2943_1361_454_L->H 0.000199681 514 chr19:55450856:T:G 2943_1331_444_D->A 0.000199681 514 chr19:55450888:C:G 2943_1299_433_E->D 0.00119808 514 chr19:55450892:C:A 2943_1295_432_R->L 0.000998403 514 chr19:55450907:A:G 2943_1280_427_M->T 0.000798722 514 chr19:55450950:G:A 2943_1237_413_R->W 0.00179712 514 chr19:55451016:T:C 2943_1171_391_T->A 0.000199681 514 chr19:55451018:C:T 2943_1169_390_R->H 0.00279553 514 chr19:55451019:G:A 2943_1168_390_R->C 0.000998403 514 chr19:55451049:C:G 2943_1138_380_G->R 0.00119808 514 chr19:55451050:C:G,T 2943_1137_379_K->N 0.00339457 514 chr19:55451170:G:T 2943_1017_339_D->E 0.000399361 514 chr19:55451232:C:T 2943_955_319_V->I 0.288938 514 chr19:55451256:G:T 2943_931_311_L->I 0.00519169 514 chr19:55451257:C:A 2943_930_310_Q->H 0.00119808 514 chr19:55451258:T:C 2943_929_310_Q->R 0.00519169 514 chr19:55451262:G:A 2943_925_309_L->F 0.000199681 514 chr19:55451282:C:T 2943_905_302_R->Q 0.000199681 514 chr19:55451352:C:A 2943_835_279_V->L 0.000798722 514 chr19:55451357:T:G 2943_830_277_K->T 0.000399361 514 chr19:55451396:G:A 2943_791_264_A->V 0.000399361 514 chr19:55451397:C:T 2943_790_264_A->T 0.000199681 514 chr19:55451436:C:T 2943_751_251_V->M 0.000599042 514 chr19:55451438:A:C 2943_749_250_F->C 0.000199681 514 chr19:55451468:C:T 2943_719_240_S->N 0.000199681 514 chr19:55451486:A:G 2943_701_234_L->S 0.00499201 514 chr19:55451613:T:G 2943_574_192_M->L 0.000798722 514 chr19:55451720:C:T 2943_467_156_R->Q 0.00159744 514 chr19:55451811:A:C 2943_376_126_S->A 0.000599042 514 chr19:55452335:C:T 2943_316_106_G->R 0.000399361 514 chr19:55452353:T:C 2943_298_100_I->V 0.000998403 514 chr19:55452809:T:C 2943_271_91_M->V 0.000199681 514 chr19:55452829:C:T 2943_251_84_C->Y 0.00139776 514 chr19:55452849:C:G 2943_231_77_E->D 0.000199681 514 chr19:55453054:G:T 2943_26_9_T->N 0.000199681 514 na12878 Variants: 514 chr19:55451232:C:T 2943_955_319_V->I 514 snyder Variants: 514 chr19:55451256:G:T 2943_931_311_L->I 514 chr19:55451258:T:C 2943_929_310_Q->R 515 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000588756 gene_Name: NALP7_HUMAN 515 list of pdbs: 515 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 515 Zimmer Variants: 515 chr19:55451232:C:T 3114_955_319_V->I 515 HGMD Variants: 515 chr19:55441884:A:T 3114_2793_931_C->* 515 chr19:55444963:G:T 3114_2616_872_Y->* 515 chr19:55445860:A:T 3114_2468_823_L->* 515 chr19:55445994:C:T 3114_2334_778_W->* 515 chr19:55449523:G:C 3114_2018_673_S->* 515 chr19:55450479:C:A 3114_1708_570_E->* 515 chr19:55450893:G:A 3114_1294_432_R->* 515 chr19:55451494:C:T 3114_693_231_W->* 515 chr19:55452305:T:A 3114_346_116_K->* 515 chr19:55452356:C:A 3114_295_99_E->* 515 chr19:55439063:A:G 3114_2891_964_L->P 515 chr19:55441939:T:C 3114_2738_913_N->S 515 chr19:55444940:A:G 3114_2639_880_L->S 515 chr19:55445884:C:T 3114_2444_815_R->H 515 chr19:55447647:C:T 3114_2282_761_C->Y 515 chr19:55447681:G:C 3114_2248_750_L->V 515 chr19:55447764:T:C 3114_2165_722_D->G 515 chr19:55447768:G:A 3114_2161_721_R->W 515 chr19:55447773:G:A 3114_2156_719_A->V 515 chr19:55447783:G:C 3114_2146_716_P->A 515 chr19:55449440:G:A 3114_2101_701_R->C 515 chr19:55449463:C:T 3114_2078_693_R->Q 515 chr19:55449463:C:G 3114_2078_693_R->P 515 chr19:55449464:G:A 3114_2077_693_R->W 515 chr19:55449560:G:A 3114_1981_661_L->F 515 chr19:55449571:T:A 3114_1970_657_D->V 515 chr19:55449590:G:A 3114_1951_651_P->S 515 chr19:55450655:T:C 3114_1532_511_K->R 515 chr19:55450707:C:T 3114_1480_494_A->T 515 chr19:55450727:C:T 3114_1460_487_G->E 515 chr19:55450746:C:T 3114_1441_481_A->T 515 chr19:55450949:C:T 3114_1238_413_R->Q 515 chr19:55450950:G:A 3114_1237_413_R->W 515 chr19:55450991:C:T 3114_1196_399_C->Y 515 chr19:55450994:A:C 3114_1193_398_L->R 515 chr19:55451018:C:T 3114_1169_390_R->H 515 chr19:55451049:C:G 3114_1138_380_G->R 515 chr19:55451050:C:G 3114_1137_379_K->N 515 chr19:55451169:C:T 3114_1018_340_E->K 515 chr19:55451437:G:T 3114_750_250_F->L 515 chr19:55451643:C:T 3114_544_182_V->M 515 chr19:55451720:C:T 3114_467_156_R->Q 515 chr19:55452829:C:T 3114_251_84_C->Y 515 oneKG Variants: 515 chr19:55450747:G:T 3114_1440_480_Y->* 0.000199681 515 chr19:55435130:G:A 3114_3092_1031_P->L 0.000199681 515 chr19:55435140:T:C 3114_3082_1028_T->A 0.0227636 515 chr19:55435229:T:C 3114_2993_998_Y->C 0.000199681 515 chr19:55439036:T:A 3114_2918_973_K->M 0.000199681 515 chr19:55441871:G:T 3114_2806_936_L->I 0.000399361 515 chr19:55441889:T:A 3114_2788_930_N->Y 0.000199681 515 chr19:55441939:T:C 3114_2738_913_N->S 0.000599042 515 chr19:55444939:C:A 3114_2640_880_L->F 0.000199681 515 chr19:55445072:T:C 3114_2507_836_K->R 0.000199681 515 chr19:55445082:C:T 3114_2497_833_A->T 0.000399361 515 chr19:55445857:G:A 3114_2471_824_S->L 0.000199681 515 chr19:55445875:T:C 3114_2453_818_H->R 0.000199681 515 chr19:55445884:C:T 3114_2444_815_R->H 0.00239617 515 chr19:55445908:A:C 3114_2420_807_M->R 0.000199681 515 chr19:55445932:T:C 3114_2396_799_N->S 0.000199681 515 chr19:55445939:A:G 3114_2389_797_S->P 0.000199681 515 chr19:55445944:C:A 3114_2384_795_R->L 0.000998403 515 chr19:55445945:G:A 3114_2383_795_R->C 0.00339457 515 chr19:55446005:G:T 3114_2323_775_P->T 0.000199681 515 chr19:55446027:C:A 3114_2301_767_R->S 0.000199681 515 chr19:55447681:G:C 3114_2248_750_L->V 0.000199681 515 chr19:55447710:C:T 3114_2219_740_G->E 0.000399361 515 chr19:55447728:G:A 3114_2201_734_T->M 0.000998403 515 chr19:55447773:G:A 3114_2156_719_A->V 0.000199681 515 chr19:55447789:C:T 3114_2140_714_V->I 0.000199681 515 chr19:55449446:C:T 3114_2095_699_V->I 0.00778754 515 chr19:55449556:C:T 3114_1985_662_R->H 0.000199681 515 chr19:55449578:G:A 3114_1963_655_R->W 0.000199681 515 chr19:55450308:C:G 3114_1879_627_G->R 0.000399361 515 chr19:55450328:A:T 3114_1859_620_L->H 0.000199681 515 chr19:55450351:C:A 3114_1836_612_K->N 0.000199681 515 chr19:55450364:G:C 3114_1823_608_S->C 0.000199681 515 chr19:55450425:C:T 3114_1762_588_V->M 0.000199681 515 chr19:55450469:C:T 3114_1718_573_G->D 0.00119808 515 chr19:55450573:A:T 3114_1614_538_F->L 0.000399361 515 chr19:55450655:T:C 3114_1532_511_K->R 0.0247604 515 chr19:55450665:C:T 3114_1522_508_E->K 0.000199681 515 chr19:55450667:T:A 3114_1520_507_E->V 0.00119808 515 chr19:55450690:G:C 3114_1497_499_D->E 0.000199681 515 chr19:55450695:C:T 3114_1492_498_G->R 0.000399361 515 chr19:55450713:C:T 3114_1474_492_G->S 0.000199681 515 chr19:55450727:C:T 3114_1460_487_G->E 0.125599 515 chr19:55450746:C:T 3114_1441_481_A->T 0.0908546 515 chr19:55450826:A:T 3114_1361_454_L->H 0.000199681 515 chr19:55450856:T:G 3114_1331_444_D->A 0.000199681 515 chr19:55450888:C:G 3114_1299_433_E->D 0.00119808 515 chr19:55450892:C:A 3114_1295_432_R->L 0.000998403 515 chr19:55450907:A:G 3114_1280_427_M->T 0.000798722 515 chr19:55450950:G:A 3114_1237_413_R->W 0.00179712 515 chr19:55451016:T:C 3114_1171_391_T->A 0.000199681 515 chr19:55451018:C:T 3114_1169_390_R->H 0.00279553 515 chr19:55451019:G:A 3114_1168_390_R->C 0.000998403 515 chr19:55451049:C:G 3114_1138_380_G->R 0.00119808 515 chr19:55451050:C:G,T 3114_1137_379_K->N 0.00339457 515 chr19:55451170:G:T 3114_1017_339_D->E 0.000399361 515 chr19:55451232:C:T 3114_955_319_V->I 0.288938 515 chr19:55451256:G:T 3114_931_311_L->I 0.00519169 515 chr19:55451257:C:A 3114_930_310_Q->H 0.00119808 515 chr19:55451258:T:C 3114_929_310_Q->R 0.00519169 515 chr19:55451262:G:A 3114_925_309_L->F 0.000199681 515 chr19:55451282:C:T 3114_905_302_R->Q 0.000199681 515 chr19:55451352:C:A 3114_835_279_V->L 0.000798722 515 chr19:55451357:T:G 3114_830_277_K->T 0.000399361 515 chr19:55451396:G:A 3114_791_264_A->V 0.000399361 515 chr19:55451397:C:T 3114_790_264_A->T 0.000199681 515 chr19:55451436:C:T 3114_751_251_V->M 0.000599042 515 chr19:55451438:A:C 3114_749_250_F->C 0.000199681 515 chr19:55451468:C:T 3114_719_240_S->N 0.000199681 515 chr19:55451486:A:G 3114_701_234_L->S 0.00499201 515 chr19:55451613:T:G 3114_574_192_M->L 0.000798722 515 chr19:55451720:C:T 3114_467_156_R->Q 0.00159744 515 chr19:55451811:A:C 3114_376_126_S->A 0.000599042 515 chr19:55452335:C:T 3114_316_106_G->R 0.000399361 515 chr19:55452353:T:C 3114_298_100_I->V 0.000998403 515 chr19:55452809:T:C 3114_271_91_M->V 0.000199681 515 chr19:55452829:C:T 3114_251_84_C->Y 0.00139776 515 chr19:55452849:C:G 3114_231_77_E->D 0.000199681 515 chr19:55453054:G:T 3114_26_9_T->N 0.000199681 515 na12878 Variants: 515 chr19:55451232:C:T 3114_955_319_V->I 515 snyder Variants: 515 chr19:55451256:G:T 3114_931_311_L->I 515 chr19:55451258:T:C 3114_929_310_Q->R 516 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167634_ENST00000592784 gene_Name: NALP7_HUMAN 516 list of pdbs: 516 2KM6 pdb_description: 09-Jun-10 NMR 20 Nmr structure of the nlrp7 pyrin domain 516 Zimmer Variants: 516 chr19:55451232:C:T 3114_955_319_V->I 516 HGMD Variants: 516 chr19:55441884:A:T 3114_2793_931_C->* 516 chr19:55444963:G:T 3114_2616_872_Y->* 516 chr19:55445860:A:T 3114_2468_823_L->* 516 chr19:55445994:C:T 3114_2334_778_W->* 516 chr19:55449523:G:C 3114_2018_673_S->* 516 chr19:55450479:C:A 3114_1708_570_E->* 516 chr19:55450893:G:A 3114_1294_432_R->* 516 chr19:55451494:C:T 3114_693_231_W->* 516 chr19:55452305:T:A 3114_346_116_K->* 516 chr19:55452356:C:A 3114_295_99_E->* 516 chr19:55439063:A:G 3114_2891_964_L->P 516 chr19:55441939:T:C 3114_2738_913_N->S 516 chr19:55444940:A:G 3114_2639_880_L->S 516 chr19:55445884:C:T 3114_2444_815_R->H 516 chr19:55447647:C:T 3114_2282_761_C->Y 516 chr19:55447681:G:C 3114_2248_750_L->V 516 chr19:55447764:T:C 3114_2165_722_D->G 516 chr19:55447768:G:A 3114_2161_721_R->W 516 chr19:55447773:G:A 3114_2156_719_A->V 516 chr19:55447783:G:C 3114_2146_716_P->A 516 chr19:55449440:G:A 3114_2101_701_R->C 516 chr19:55449463:C:T 3114_2078_693_R->Q 516 chr19:55449463:C:G 3114_2078_693_R->P 516 chr19:55449464:G:A 3114_2077_693_R->W 516 chr19:55449560:G:A 3114_1981_661_L->F 516 chr19:55449571:T:A 3114_1970_657_D->V 516 chr19:55449590:G:A 3114_1951_651_P->S 516 chr19:55450655:T:C 3114_1532_511_K->R 516 chr19:55450707:C:T 3114_1480_494_A->T 516 chr19:55450727:C:T 3114_1460_487_G->E 516 chr19:55450746:C:T 3114_1441_481_A->T 516 chr19:55450949:C:T 3114_1238_413_R->Q 516 chr19:55450950:G:A 3114_1237_413_R->W 516 chr19:55450991:C:T 3114_1196_399_C->Y 516 chr19:55450994:A:C 3114_1193_398_L->R 516 chr19:55451018:C:T 3114_1169_390_R->H 516 chr19:55451049:C:G 3114_1138_380_G->R 516 chr19:55451050:C:G 3114_1137_379_K->N 516 chr19:55451169:C:T 3114_1018_340_E->K 516 chr19:55451437:G:T 3114_750_250_F->L 516 chr19:55451643:C:T 3114_544_182_V->M 516 chr19:55451720:C:T 3114_467_156_R->Q 516 chr19:55452829:C:T 3114_251_84_C->Y 516 oneKG Variants: 516 chr19:55450747:G:T 3114_1440_480_Y->* 0.000199681 516 chr19:55435130:G:A 3114_3092_1031_P->L 0.000199681 516 chr19:55435140:T:C 3114_3082_1028_T->A 0.0227636 516 chr19:55435229:T:C 3114_2993_998_Y->C 0.000199681 516 chr19:55439036:T:A 3114_2918_973_K->M,1 0.000199681 516 chr19:55441871:G:T 3114_2806_936_L->I 0.000399361 516 chr19:55441889:T:A 3114_2788_930_N->Y 0.000199681 516 chr19:55441939:T:C 3114_2738_913_N->S 0.000599042 516 chr19:55444939:C:A 3114_2640_880_L->F 0.000199681 516 chr19:55445072:T:C 3114_2507_836_K->R 0.000199681 516 chr19:55445082:C:T 3114_2497_833_A->T 0.000399361 516 chr19:55445857:G:A 3114_2471_824_S->L 0.000199681 516 chr19:55445875:T:C 3114_2453_818_H->R 0.000199681 516 chr19:55445884:C:T 3114_2444_815_R->H 0.00239617 516 chr19:55445908:A:C 3114_2420_807_M->R 0.000199681 516 chr19:55445932:T:C 3114_2396_799_N->S 0.000199681 516 chr19:55445939:A:G 3114_2389_797_S->P 0.000199681 516 chr19:55445944:C:A 3114_2384_795_R->L 0.000998403 516 chr19:55445945:G:A 3114_2383_795_R->C 0.00339457 516 chr19:55446005:G:T 3114_2323_775_P->T 0.000199681 516 chr19:55446027:C:A 3114_2301_767_R->S 0.000199681 516 chr19:55447681:G:C 3114_2248_750_L->V 0.000199681 516 chr19:55447710:C:T 3114_2219_740_G->E 0.000399361 516 chr19:55447728:G:A 3114_2201_734_T->M 0.000998403 516 chr19:55447773:G:A 3114_2156_719_A->V 0.000199681 516 chr19:55447789:C:T 3114_2140_714_V->I 0.000199681 516 chr19:55449446:C:T 3114_2095_699_V->I 0.00778754 516 chr19:55449556:C:T 3114_1985_662_R->H 0.000199681 516 chr19:55449578:G:A 3114_1963_655_R->W 0.000199681 516 chr19:55450308:C:G 3114_1879_627_G->R 0.000399361 516 chr19:55450328:A:T 3114_1859_620_L->H 0.000199681 516 chr19:55450351:C:A 3114_1836_612_K->N 0.000199681 516 chr19:55450364:G:C 3114_1823_608_S->C 0.000199681 516 chr19:55450425:C:T 3114_1762_588_V->M 0.000199681 516 chr19:55450469:C:T 3114_1718_573_G->D 0.00119808 516 chr19:55450573:A:T 3114_1614_538_F->L 0.000399361 516 chr19:55450655:T:C 3114_1532_511_K->R 0.0247604 516 chr19:55450665:C:T 3114_1522_508_E->K 0.000199681 516 chr19:55450667:T:A 3114_1520_507_E->V 0.00119808 516 chr19:55450690:G:C 3114_1497_499_D->E 0.000199681 516 chr19:55450695:C:T 3114_1492_498_G->R 0.000399361 516 chr19:55450713:C:T 3114_1474_492_G->S 0.000199681 516 chr19:55450727:C:T 3114_1460_487_G->E 0.125599 516 chr19:55450746:C:T 3114_1441_481_A->T 0.0908546 516 chr19:55450826:A:T 3114_1361_454_L->H 0.000199681 516 chr19:55450856:T:G 3114_1331_444_D->A 0.000199681 516 chr19:55450888:C:G 3114_1299_433_E->D 0.00119808 516 chr19:55450892:C:A 3114_1295_432_R->L 0.000998403 516 chr19:55450907:A:G 3114_1280_427_M->T 0.000798722 516 chr19:55450950:G:A 3114_1237_413_R->W 0.00179712 516 chr19:55451016:T:C 3114_1171_391_T->A 0.000199681 516 chr19:55451018:C:T 3114_1169_390_R->H 0.00279553 516 chr19:55451019:G:A 3114_1168_390_R->C 0.000998403 516 chr19:55451049:C:G 3114_1138_380_G->R 0.00119808 516 chr19:55451050:C:G,T 3114_1137_379_K->N 0.00339457 516 chr19:55451170:G:T 3114_1017_339_D->E 0.000399361 516 chr19:55451232:C:T 3114_955_319_V->I 0.288938 516 chr19:55451256:G:T 3114_931_311_L->I 0.00519169 516 chr19:55451257:C:A 3114_930_310_Q->H 0.00119808 516 chr19:55451258:T:C 3114_929_310_Q->R 0.00519169 516 chr19:55451262:G:A 3114_925_309_L->F 0.000199681 516 chr19:55451282:C:T 3114_905_302_R->Q 0.000199681 516 chr19:55451352:C:A 3114_835_279_V->L 0.000798722 516 chr19:55451357:T:G 3114_830_277_K->T 0.000399361 516 chr19:55451396:G:A 3114_791_264_A->V 0.000399361 516 chr19:55451397:C:T 3114_790_264_A->T 0.000199681 516 chr19:55451436:C:T 3114_751_251_V->M 0.000599042 516 chr19:55451438:A:C 3114_749_250_F->C 0.000199681 516 chr19:55451468:C:T 3114_719_240_S->N 0.000199681 516 chr19:55451486:A:G 3114_701_234_L->S 0.00499201 516 chr19:55451613:T:G 3114_574_192_M->L 0.000798722 516 chr19:55451720:C:T 3114_467_156_R->Q 0.00159744 516 chr19:55451811:A:C 3114_376_126_S->A 0.000599042 516 chr19:55452335:C:T 3114_316_106_G->R 0.000399361 516 chr19:55452353:T:C 3114_298_100_I->V 0.000998403 516 chr19:55452809:T:C 3114_271_91_M->V 0.000199681 516 chr19:55452829:C:T 3114_251_84_C->Y 0.00139776 516 chr19:55452849:C:G 3114_231_77_E->D 0.000199681 516 chr19:55453054:G:T 3114_26_9_T->N 0.000199681 516 na12878 Variants: 516 chr19:55451232:C:T 3114_955_319_V->I 516 snyder Variants: 516 chr19:55451256:G:T 3114_931_311_L->I 516 chr19:55451258:T:C 3114_929_310_Q->R 517 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115008_ENST00000263339 gene_Name: IL1A_HUMAN 517 list of pdbs: 517 2L5X pdb_description: 26-Jan-11 NMR 20 Solution structure of il1a-s100a13 complex 517 2KKI pdb_description: 30-Jun-10 NMR 14 Solution structure of human interleukin 1a 517 2ILA pdb_description: 15-Oct-92 X-ray 2.300 Structure of interleukin 1alpha at 2.7-angstroms resolution 517 1ITA pdb_description: 31-Oct-93 Theoret model Interleukin 1 alpha (theoretical model) 517 Zimmer Variants: 517 chr2:113537223:C:A 816_340_114_A->S;GENE=IL1A;CDSS=2 517 HGMD Variants: 517 chr2:113537223:C:A 816_340_114_A->S 517 oneKG Variants: 517 chr2:113535602:C:T 816_577_193_V->M 0.000998403 517 chr2:113537105:G:A 816_458_153_T->M 0.000199681 517 chr2:113537141:T:C 816_422_141_N->S 0.000199681 517 chr2:113537151:C:T 816_412_138_D->N 0.00559105 517 chr2:113537166:C:G 816_397_133_E->Q 0.000199681 517 chr2:113537190:T:C 816_373_125_N->D 0.000599042 517 chr2:113537220:G:C 816_343_115_P->A 0.000199681 517 chr2:113537223:C:A 816_340_114_A->S 0.217452 517 chr2:113539195:T:C 816_305_102_N->S 0.000199681 517 chr2:113539199:C:T 816_301_101_A->T 0.000199681 517 chr2:113539232:G:T 816_268_90_Q->K 0.00219649 517 chr2:113539240:C:G 816_260_87_S->T 0.000199681 517 chr2:113539246:C:T 816_254_85_R->Q 0.000599042 517 chr2:113539268:C:T 816_232_78_G->R 0.000798722 517 chr2:113539358:T:C 816_142_48_M->V 0.00239617 517 chr2:113539363:C:G 816_137_46_G->A 0.000199681 517 chr2:113539378:C:A 816_122_41_G->V 0.000199681 517 chr2:113540328:C:G 816_61_21_D->H 0.000399361 517 na12878 Variants: 517 chr2:113537223:C:A 816_340_114_A->S 517 snyder Variants: 517 chr2:113537223:C:A 816_340_114_A->S 518 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000183091_ENST00000409198 gene_Name: NEBU_HUMAN 518 list of pdbs: 518 1NEB pdb_description: 24-Dec-97 NMR 1 Sh3 domain from human nebulin, nmr, minimized average structure 518 1ARK pdb_description: 28-Jan-98 NMR 15 Sh3 domain from human nebulin, nmr, 15 structures 518 Zimmer Variants: 518 chr2:152352843:C:G 20010_18865_6289_A->P 518 chr2:152527572:C:T 20010_4471_1491_V->M 518 chr2:152527608:C:T 20010_4435_1479_V->I 518 chr2:152527636:C:G 20010_4407_1469_E->D 518 chr2:152531077:A:G 20010_3901_1301_Y->H 518 chr2:152536498:T:A 20010_3081_1027_K->N 518 chr2:152544153:T:C 20010_2510_837_K->R 518 HGMD Variants: 518 chr2:152346553:G:A 20010_19768_6590_R->* 518 chr2:152347009:C:A 20010_19606_6536_E->* 518 chr2:152348211:A:C 20010_19568_6523_L->* 518 chr2:152348276:C:T 20010_19503_6501_W->* 518 chr2:152352822:G:A 20010_18886_6296_R->* 518 chr2:152359324:G:A 20010_18808_6270_Q->* 518 chr2:152364554:G:A 20010_18313_6105_Q->* 518 chr2:152370195:G:A 20010_18037_6013_R->* 518 chr2:152371439:C:A 20010_17806_5936_E->* 518 chr2:152373047:G:A 20010_17728_5910_R->* 518 chr2:152373050:C:A 20010_17725_5909_E->* 518 chr2:152376273:G:A 20010_17386_5796_R->* 518 chr2:152381779:G:C 20010_17067_5689_Y->* 518 chr2:152384042:G:A 20010_16690_5564_R->* 518 chr2:152390740:G:A 20010_16303_5435_Q->* 518 chr2:152392307:A:T 20010_16107_5369_Y->* 518 chr2:152394412:G:A 20010_15973_5325_R->* 518 chr2:152396947:G:A 20010_15700_5234_Q->* 518 chr2:152397978:G:A 20010_15562_5188_Q->* 518 chr2:152397984:G:A 20010_15556_5186_R->* 518 chr2:152402425:C:A 20010_15451_5151_E->* 518 chr2:152419208:G:A 20010_13705_4569_R->* 518 chr2:152420137:G:A 20010_13573_4525_Q->* 518 chr2:152423714:G:A 20010_13021_4341_Q->* 518 chr2:152424912:C:T 20010_12551_4184_W->* 518 chr2:152425860:C:T 20010_12354_4118_W->* 518 chr2:152432301:C:A 20010_11818_3940_E->* 518 chr2:152468877:C:T 20010_10899_3633_W->* 518 chr2:152468895:G:T 20010_10881_3627_Y->* 518 chr2:152473895:G:A 20010_10435_3479_R->* 518 chr2:152483602:G:A 20010_9532_3178_Q->* 518 chr2:152497129:G:A 20010_8425_2809_R->* 518 chr2:152500641:G:C 20010_7647_2549_Y->* 518 chr2:152507378:G:A 20010_6937_2313_R->* 518 chr2:152512777:G:A 20010_6385_2129_Q->* 518 chr2:152520251:G:C 20010_5574_1858_Y->* 518 chr2:152520370:T:A 20010_5455_1819_K->* 518 chr2:152522024:C:T 20010_5061_1687_W->* 518 chr2:152534567:A:C 20010_3390_1130_Y->* 518 chr2:152541300:G:A 20010_2827_943_Q->* 518 chr2:152544902:G:C 20010_2319_773_Y->* 518 chr2:152548856:A:T 20010_1917_639_Y->* 518 chr2:152580837:G:T 20010_549_183_Y->* 518 chr2:152581466:G:A 20010_412_138_R->* 518 chr2:152359948:T:G 20010_18647_6216_Y->S 518 chr2:152362011:G:A 20010_18620_6207_T->M 518 chr2:152369326:A:G 20010_18164_6055_M->T 518 chr2:152375489:A:G 20010_17582_5861_L->P 518 chr2:152380825:C:G 20010_17376_5792_Q->H 518 chr2:152382489:T:G 20010_17041_5681_T->P 518 chr2:152385774:C:G 20010_16582_5528_D->H 518 chr2:152388311:T:G 20010_16414_5472_S->R 518 chr2:152390806:G:A 20010_16237_5413_R->W 518 chr2:152392249:G:C 20010_16165_5389_P->A 518 chr2:152408283:C:G 20010_14810_4937_R->P 518 chr2:152417726:C:A 20010_13994_4665_S->I 518 chr2:152473976:A:G 20010_10354_3452_Y->H 518 chr2:152477465:C:G 20010_9799_3267_A->P 518 chr2:152497173:T:A 20010_8381_2794_Y->F 518 chr2:152499860:T:C 20010_7964_2655_Y->C 518 chr2:152500985:A:T 20010_7641_2547_S->R 518 chr2:152506830:C:T 20010_7291_2431_E->K 518 chr2:152512774:C:G 20010_6388_2130_A->P 518 chr2:152527706:C:A 20010_4337_1446_G->V 518 chr2:152531806:T:C 20010_3874_1292_S->G 518 chr2:152543967:A:G 20010_2603_868_L->P 518 chr2:152581468:T:C 20010_410_137_Y->C 518 chr2:152589663:T:C 20010_8_3_D->G 518 oneKG Variants: 518 chr2:152362703:G:A 20010_18523_6175_Q->* 0.000199681 518 chr2:152342287:A:G 20010_19997_6666_V->A 0.000399361 518 chr2:152342288:C:T 20010_19996_6666_V->I 0.000798722 518 chr2:152342419:A:G 20010_19865_6622_M->T 0.000199681 518 chr2:152342431:A:G 20010_19853_6618_M->T 0.000199681 518 chr2:152342438:G:A 20010_19846_6616_R->C 0.000399361 518 chr2:152342446:T:A 20010_19838_6613_K->I 0.000199681 518 chr2:152346499:G:T 20010_19822_6608_P->T 0.000199681 518 chr2:152346522:G:A 20010_19799_6600_T->M 0.00139776 518 chr2:152346537:G:A 20010_19784_6595_A->V 0.000199681 518 chr2:152346894:A:G 20010_19721_6574_V->A 0.000199681 518 chr2:152346943:C:T 20010_19672_6558_A->T 0.000199681 518 chr2:152346979:T:C 20010_19636_6546_I->V 0.334265 518 chr2:152347012:G:A 20010_19603_6535_R->W 0.000399361 518 chr2:152347018:G:A 20010_19597_6533_R->W 0.000199681 518 chr2:152347020:C:T 20010_19595_6532_R->H 0.000798722 518 chr2:152348206:T:G 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chr2:152510594:C:A 20010_6827_2276_W->L 0.000199681 518 chr2:152511833:T:C 20010_6758_2253_D->G 0.000199681 518 chr2:152511874:A:C 20010_6717_2239_I->M 0.0267572 518 chr2:152511887:T:G 20010_6704_2235_H->P 0.000199681 518 chr2:152512344:T:C 20010_6689_2230_H->R 0.000199681 518 chr2:152512375:T:C 20010_6658_2220_M->V 0.000199681 518 chr2:152512420:G:A 20010_6613_2205_R->C 0.000199681 518 chr2:152512512:T:C 20010_6521_2174_E->G 0.000199681 518 chr2:152512773:G:T 20010_6389_2130_A->D 0.000199681 518 chr2:152512884:A:G 20010_6278_2093_V->A 0.00179712 518 chr2:152512891:T:C 20010_6271_2091_M->V 0.000199681 518 chr2:152514505:C:T 20010_6175_2059_A->T 0.000199681 518 chr2:152514508:T:A 20010_6172_2058_I->F 0.000199681 518 chr2:152514514:T:C 20010_6166_2056_R->G 0.00519169 518 chr2:152514592:G:A 20010_6088_2030_L->F 0.000199681 518 chr2:152514598:A:G 20010_6082_2028_Y->H 0.000199681 518 chr2:152515585:C:T 20010_6069_2023_M->I 0.00179712 518 chr2:152515634:A:G 20010_6020_2007_M->T 0.000599042 518 chr2:152515683:G:A 20010_5971_1991_H->Y 0.0920527 518 chr2:152518651:C:T 20010_5968_1990_E->K 0.00199681 518 chr2:152518714:A:G 20010_5905_1969_Y->H 0.00519169 518 chr2:152518791:A:T 20010_5828_1943_L->Q 0.000199681 518 chr2:152520078:A:G 20010_5747_1916_M->T 0.000399361 518 chr2:152520129:G:A 20010_5696_1899_T->I 0.000599042 518 chr2:152520162:G:A 20010_5663_1888_A->V 0.000199681 518 chr2:152520183:G:C 20010_5642_1881_A->G 0.000199681 518 chr2:152520184:C:T 20010_5641_1881_A->T 0.000199681 518 chr2:152520258:C:T 20010_5567_1856_R->Q 0.00439297 518 chr2:152520260:G:T 20010_5565_1855_D->E 0.000199681 518 chr2:152520270:A:C 20010_5555_1852_M->R 0.00199681 518 chr2:152520271:T:C 20010_5554_1852_M->V 0.000199681 518 chr2:152520322:G:A 20010_5503_1835_R->W 0.000798722 518 chr2:152521046:G:A 20010_5420_1807_A->V 0.000199681 518 chr2:152521055:G:T 20010_5411_1804_A->E 0.00139776 518 chr2:152521056:C:T 20010_5410_1804_A->T 0.000399361 518 chr2:152521092:T:C 20010_5374_1792_K->E 0.000199681 518 chr2:152521313:T:G 20010_5303_1768_D->A 0.000199681 518 chr2:152521316:G:A 20010_5300_1767_P->L 0.000199681 518 chr2:152521338:T:C 20010_5278_1760_I->V 0.000199681 518 chr2:152521349:T:C 20010_5267_1756_D->G 0.000199681 518 chr2:152521351:C:G 20010_5265_1755_K->N 0.000199681 518 chr2:152521367:G:A 20010_5249_1750_T->I 0.000199681 518 chr2:152521908:G:A 20010_5177_1726_T->I 0.000199681 518 chr2:152521983:A:G 20010_5102_1701_V->A 0.0191693 518 chr2:152522031:G:A 20010_5054_1685_T->I 0.000199681 518 chr2:152522605:T:C 20010_5030_1677_D->G 0.000199681 518 chr2:152522654:C:T 20010_4981_1661_D->N 0.000199681 518 chr2:152522665:G:A 20010_4970_1657_T->I 0.000199681 518 chr2:152522696:C:T 20010_4939_1647_A->T 0.000199681 518 chr2:152522800:C:T 20010_4835_1612_R->H 0.000199681 518 chr2:152522801:G:A 20010_4834_1612_R->C 0.000599042 518 chr2:152522900:C:T 20010_4735_1579_A->T 0.000199681 518 chr2:152524373:C:T 20010_4664_1555_R->K 0.000199681 518 chr2:152524388:T:C 20010_4649_1550_K->R 0.00119808 518 chr2:152525545:C:T 20010_4607_1536_S->N 0.000998403 518 chr2:152527572:C:T 20010_4471_1491_V->M 0.466853 518 chr2:152527577:C:T 20010_4466_1489_G->D 0.000998403 518 chr2:152527580:A:G 20010_4463_1488_M->T 0.000199681 518 chr2:152527608:C:T 20010_4435_1479_V->I 0.335264 518 chr2:152527636:C:G 20010_4407_1469_E->D 0.0271565 518 chr2:152527706:C:T 20010_4337_1446_G->D 0.000199681 518 chr2:152528899:T:C 20010_4283_1428_N->S 0.000399361 518 chr2:152528976:A:T 20010_4206_1402_N->K 0.000998403 518 chr2:152528984:C:T 20010_4198_1400_A->T 0.000199681 518 chr2:152528995:G:A 20010_4187_1396_A->V 0.000199681 518 chr2:152529016:C:T 20010_4166_1389_S->N 0.000199681 518 chr2:152529028:C:T 20010_4154_1385_G->E 0.000199681 518 chr2:152529066:C:G 20010_4116_1372_K->N 0.000199681 518 chr2:152529079:C:T 20010_4103_1368_R->H 0.000199681 518 chr2:152529120:C:A 20010_4062_1354_K->N 0.000199681 518 chr2:152529136:A:G 20010_4046_1349_L->P 0.000399361 518 chr2:152529193:T:C 20010_3989_1330_Y->C 0.000599042 518 chr2:152530992:T:G 20010_3986_1329_D->A 0.000599042 518 chr2:152531077:A:G 20010_3901_1301_Y->H 0.283946 518 chr2:152531082:T:C 20010_3896_1299_D->G 0.000199681 518 chr2:152531854:G:T 20010_3826_1276_P->T 0.00419329 518 chr2:152534216:C:T 20010_3637_1213_V->I 0.000199681 518 chr2:152534230:A:G 20010_3623_1208_I->T 0.000599042 518 chr2:152534260:T:C 20010_3593_1198_N->S 0.000798722 518 chr2:152534514:G:A,T 20010_3443_1148_A->V 0.000599042 518 chr2:152534514:G:A,T 20010_3443_1148_A->E 0.000599042 518 chr2:152534541:G:A 20010_3416_1139_T->M 0.000599042 518 chr2:152534545:T:C 20010_3412_1138_N->D 0.0191693 518 chr2:152536242:G:A 20010_3248_1083_A->V 0.000399361 518 chr2:152536249:G:T 20010_3241_1081_Q->K 0.000399361 518 chr2:152536266:G:A 20010_3224_1075_A->V 0.000199681 518 chr2:152536279:T:G 20010_3211_1071_I->L 0.000599042 518 chr2:152536299:T:C 20010_3191_1064_Y->C 0.00179712 518 chr2:152536306:T:C 20010_3184_1062_K->E 0.000599042 518 chr2:152536485:G:A 20010_3094_1032_P->S 0.000199681 518 chr2:152536498:T:A 20010_3081_1027_K->N 0.416534 518 chr2:152537279:C:G 20010_3007_1003_V->L 0.000399361 518 chr2:152537302:G:A 20010_2984_995_S->L 0.000199681 518 chr2:152541294:C:T 20010_2833_945_D->N 0.000199681 518 chr2:152541308:T:C 20010_2819_940_Y->C 0.000199681 518 chr2:152541347:G:C 20010_2780_927_P->R 0.000199681 518 chr2:152541356:T:G 20010_2771_924_Y->S 0.000399361 518 chr2:152541486:C:T 20010_2641_881_E->K 0.000199681 518 chr2:152541488:C:T 20010_2639_880_R->H 0.000199681 518 chr2:152543967:A:G 20010_2603_868_L->P 0.00159744 518 chr2:152544153:T:C 20010_2510_837_K->R 0.00179712 518 chr2:152544187:C:T 20010_2476_826_A->T 0.000199681 518 chr2:152544204:A:C 20010_2459_820_F->C 0.000399361 518 chr2:152544232:C:T 20010_2431_811_D->N 0.000199681 518 chr2:152544867:T:C 20010_2354_785_H->R 0.000199681 518 chr2:152544897:G:A 20010_2324_775_A->V 0.000199681 518 chr2:152544903:T:C 20010_2318_773_Y->C 0.0181709 518 chr2:152547245:C:T 20010_2306_769_S->N 0.000199681 518 chr2:152547287:G:A 20010_2264_755_S->F 0.000199681 518 chr2:152548387:C:G 20010_2202_734_Q->H 0.000599042 518 chr2:152548439:T:C 20010_2150_717_Y->C 0.000199681 518 chr2:152548454:T:A 20010_2135_712_D->V 0.000199681 518 chr2:152548592:A:G 20010_2087_696_V->A 0.000199681 518 chr2:152548797:G:A 20010_1976_659_T->I 0.000399361 518 chr2:152548824:C:T 20010_1949_650_C->Y 0.000199681 518 chr2:152548839:T:C 20010_1934_645_K->R 0.000199681 518 chr2:152548874:T:A 20010_1899_633_R->S 0.00159744 518 chr2:152550877:T:C 20010_1856_619_K->R 0.00339457 518 chr2:152550904:C:T 20010_1829_610_G->E 0.000199681 518 chr2:152550934:T:C 20010_1799_600_D->G 0.000199681 518 chr2:152553895:T:A 20010_1334_445_H->L 0.000199681 518 chr2:152553944:C:A 20010_1285_429_D->Y 0.000199681 518 chr2:152554104:G:A 20010_1211_404_T->I 0.000399361 518 chr2:152554113:T:A 20010_1202_401_Y->F 0.000199681 518 chr2:152563502:T:G 20010_1045_349_K->Q 0.000399361 518 chr2:152566950:T:C 20010_925_309_T->A 0.000199681 518 chr2:152566961:T:C 20010_914_305_D->G 0.00519169 518 chr2:152566972:T:A 20010_903_301_R->S 0.000798722 518 chr2:152566973:C:T 20010_902_301_R->K 0.000798722 518 chr2:152567012:T:C 20010_863_288_K->R 0.00978435 518 chr2:152573934:C:T 20010_818_273_S->N 0.000199681 518 chr2:152574013:C:T 20010_739_247_A->T 0.000199681 518 chr2:152579951:T:C 20010_662_221_Y->C 0.000199681 518 chr2:152580788:C:T 20010_598_200_A->T 0.000399361 518 chr2:152580800:C:T 20010_586_196_V->I 0.000199681 518 chr2:152580815:C:G 20010_571_191_E->Q 0.0071885 518 chr2:152580847:T:C 20010_539_180_K->R 0.00139776 518 chr2:152581409:T:C 20010_469_157_I->V 0.000399361 518 chr2:152582001:C:T 20010_368_123_R->H 0.000199681 518 chr2:152582002:G:A 20010_367_123_R->C 0.000399361 518 chr2:152582014:T:C 20010_355_119_T->A 0.000798722 518 chr2:152582047:T:C 20010_322_108_T->A 0.000199681 518 chr2:152584282:G:A 20010_217_73_R->W 0.00159744 518 chr2:152584309:T:C 20010_190_64_K->E 0.000199681 518 chr2:152584348:C:T 20010_151_51_A->T 0.000199681 518 chr2:152584404:T:C 20010_95_32_Y->C 0.000199681 518 chr2:152586136:G:A 20010_71_24_P->L 0.000599042 518 na12878 Variants: 518 chr2:152352843:C:G 20010_18865_6289_A->P 518 chr2:152500449:C:G 20010_7839_2613_K->N 518 chr2:152527572:C:T 20010_4471_1491_V->M 518 chr2:152531077:A:G 20010_3901_1301_Y->H 518 chr2:152346979:T:C 20010_19636_6546_I->V 518 chr2:152536498:T:A 20010_3081_1027_K->N 518 snyder Variants: 518 chr2:152352843:C:G 20010_18865_6289_A->P 518 chr2:152500449:C:G 20010_7839_2613_K->N 518 chr2:152527572:C:T 20010_4471_1491_V->M 518 chr2:152531077:A:G 20010_3901_1301_Y->H 518 chr2:152346979:T:C 20010_19636_6546_I->V 518 chr2:152536498:T:A 20010_3081_1027_K->N 519 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115232_ENST00000397033 gene_Name: ITA4_HUMAN 519 list of pdbs: 519 3V4V pdb_description: 11-Jan-12 X-ray 3.100 Crystal structure of a4b7 headpiece complexed with fab act-1 ro0505376 519 3V4P pdb_description: 11-Jan-12 X-ray 3.150 Crystal structure of a4b7 headpiece complexed with fab act-1 519 4HKC pdb_description: 26-Jun-13 X-ray 2.200 14-3-3-zeta in complex with s1011 phosphorylated integrin al peptide 519 Zimmer Variants: 519 chr2:182395345:G:A 3099_2633_878_R->Q;HUB=PPI;GENE=ITGA4;CDSS=2 519 HGMD Variants: 519 chr2:182347303:T:A 3099_966_322_D->E 519 oneKG Variants: 519 chr2:182374499:C:T 3099_1810_604_Q->* 0.000199681 519 chr2:182322395:C:A 3099_14_5_A->E 0.000199681 519 chr2:182322523:C:A 3099_142_48_H->N 0.000399361 519 chr2:182322550:G:A 3099_169_57_V->M 0.000199681 519 chr2:182322957:G:C 3099_232_78_A->P 0.0173722 519 chr2:182323006:G:C 3099_281_94_G->A 0.000199681 519 chr2:182339690:G:A 3099_323_108_S->N 0.000199681 519 chr2:182346352:G:A 3099_782_261_R->Q 0.000798722 519 chr2:182347090:T:C 3099_844_282_Y->H 0.000199681 519 chr2:182347358:G:A 3099_1021_341_V->M 0.000199681 519 chr2:182350641:G:A 3099_1075_359_V->I 0.000199681 519 chr2:182358115:G:A 3099_1217_406_R->H 0.000199681 519 chr2:182359485:A:G 3099_1285_429_M->V 0.000199681 519 chr2:182360100:G:A 3099_1342_448_V->I 0.000399361 519 chr2:182360587:A:G 3099_1463_488_E->G 0.000199681 519 chr2:182360656:G:C 3099_1532_511_G->A 0.000199681 519 chr2:182363436:G:A 3099_1627_543_V->M 0.000599042 519 chr2:182363451:A:G 3099_1642_548_I->V 0.000199681 519 chr2:182363502:C:T 3099_1693_565_R->W 0.000399361 519 chr2:182374386:A:G 3099_1697_566_K->R 0.000199681 519 chr2:182374391:G:A 3099_1702_568_V->M 0.000399361 519 chr2:182374467:C:T 3099_1778_593_T->I 0.000199681 519 chr2:182376480:T:A 3099_1900_634_S->T 0.0171725 519 chr2:182386932:A:G 3099_1937_646_K->R 0.000199681 519 chr2:182388236:A:C 3099_2146_716_I->L 0.000199681 519 chr2:182388941:C:A 3099_2213_738_A->E 0.000199681 519 chr2:182388949:G:T 3099_2221_741_D->Y 0.000199681 519 chr2:182389949:A:G 3099_2270_757_D->G 0.000199681 519 chr2:182392032:A:G 3099_2348_783_N->S 0.000399361 519 chr2:182392038:C:T 3099_2354_785_T->I 0.000399361 519 chr2:182392091:G:A 3099_2407_803_E->K 0.0 519 chr2:182394308:T:C 3099_2471_824_V->A 0.00199681 519 chr2:182394317:T:C 3099_2480_827_M->T 0.000199681 519 chr2:182394373:C:A 3099_2536_846_Q->K 0.000199681 519 chr2:182395270:A:G 3099_2558_853_H->R 0.000199681 519 chr2:182395312:A:G 3099_2600_867_K->R 0.000199681 519 chr2:182395341:G:A 3099_2629_877_V->I 0.000199681 519 chr2:182395345:G:A 3099_2633_878_R->Q 0.209465 519 chr2:182395359:A:G 3099_2647_883_T->A 0.000199681 519 chr2:182396414:A:G 3099_2695_899_N->D 0.000199681 519 chr2:182396457:C:A 3099_2738_913_A->D 0.000599042 519 chr2:182399083:G:A 3099_2869_957_E->K 0.000199681 519 chr2:182399559:T:A 3099_2900_967_L->Q 0.000199681 519 chr2:182399565:A:G 3099_2906_969_H->R 0.000199681 519 chr2:182399628:T:C 3099_2969_990_I->T 0.000199681 519 na12878 Variants: 519 chr2:182395345:G:A 3099_2633_878_R->Q 519 snyder Variants: 519 chr2:182395345:G:A 3099_2633_878_R->Q 520 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168542_ENST00000304636 gene_Name: CO3A1_HUMAN 520 list of pdbs: 520 4GYX pdb_description: 17-Oct-12 X-ray 1.490 The von willebrand factor a3 domain binding region of type i collagen stabilized by the cysteine knot 520 4AK3 pdb_description: 12-Sep-12 X-ray 3.500 Crystal structure of human fibrillar procollagen type iii c- propeptide trimer 520 4AEJ pdb_description: 12-Sep-12 X-ray 2.210 Crystal structure of human fibrillar procollagen type iii c- propeptide trimer 520 4AE2 pdb_description: 12-Sep-12 X-ray 1.680 Crystal structure of human fibrillar procollagen type iii c- propeptide trimer 520 3DMW pdb_description: 30-Sep-08 X-ray 2.300 Crystal structure of human type iii collagen g982-g1023 containing c-terminal cystine knot 520 2V53 pdb_description: 25-Nov-08 X-ray 3.200 Crystal structure of a sparc-collagen complex 520 Zimmer Variants: 520 chr2:189864080:G:A 4401_2092_698_A->T 520 chr2:189875421:T:G 4401_4059_1353_H->Q 520 HGMD Variants: 520 chr2:189839245:G:A 4401_30_10_W->* 520 chr2:189855742:C:T 4401_811_271_R->* 520 chr2:189856934:C:T 4401_976_326_R->* 520 chr2:189861915:C:T 4401_1786_596_R->* 520 chr2:189868152:C:T 4401_2569_857_Q->* 520 chr2:189870079:G:T 4401_2935_979_E->* 520 chr2:189870136:C:T 4401_2992_998_Q->* 520 chr2:189870962:C:T 4401_3070_1024_R->* 520 chr2:189872295:C:T 4401_3325_1109_R->* 520 chr2:189872839:C:T 4401_3496_1166_R->* 520 chr2:189874927:C:T 4401_3847_1283_Q->* 520 chr2:189876393:C:T 4401_4294_1432_R->* 520 chr2:189849525:C:T 4401_119_40_A->V 520 chr2:189851842:C:T 4401_505_169_L->F 520 chr2:189852817:G:A 4401_539_180_G->D 520 chr2:189852825:G:C 4401_547_183_G->R 520 chr2:189852825:G:T 4401_547_183_G->C 520 chr2:189852825:G:A 4401_547_183_G->S 520 chr2:189852826:G:A 4401_548_183_G->D 520 chr2:189852826:G:C 4401_548_183_G->A 520 chr2:189852834:G:A 4401_556_186_G->S 520 chr2:189852843:G:C 4401_565_189_G->R 520 chr2:189852853:G:T 4401_575_192_G->V 520 chr2:189853316:G:C 4401_583_195_G->R 520 chr2:189853325:G:A 4401_592_198_G->R 520 chr2:189853326:G:A 4401_593_198_G->E 520 chr2:189853334:G:C 4401_601_201_G->R 520 chr2:189853343:G:A 4401_610_204_G->S 520 chr2:189853344:G:A 4401_611_204_G->D 520 chr2:189853353:G:T 4401_620_207_G->V 520 chr2:189853362:G:T 4401_629_210_G->V 520 chr2:189853362:G:A 4401_629_210_G->D 520 chr2:189854122:G:A 4401_637_213_G->S 520 chr2:189854132:G:A 4401_647_216_G->E 520 chr2:189854140:G:T 4401_655_219_G->C 520 chr2:189854141:G:C 4401_656_219_G->A 520 chr2:189854141:G:A 4401_656_219_G->D 520 chr2:189854150:G:T 4401_665_222_G->V 520 chr2:189854150:G:A 4401_665_222_G->D 520 chr2:189854159:G:C 4401_674_225_G->A 520 chr2:189854159:G:T 4401_674_225_G->V 520 chr2:189854159:G:A 4401_674_225_G->D 520 chr2:189854167:G:C 4401_682_228_G->R 520 chr2:189854168:G:A 4401_683_228_G->E 520 chr2:189854832:G:A 4401_701_234_G->D 520 chr2:189854840:G:A 4401_709_237_G->R 520 chr2:189854849:G:C 4401_718_240_G->R 520 chr2:189854850:G:T 4401_719_240_G->V 520 chr2:189854859:G:A 4401_728_243_G->E 520 chr2:189854859:G:T 4401_728_243_G->V 520 chr2:189854868:G:A 4401_737_246_G->E 520 chr2:189855034:G:T 4401_746_249_G->V 520 chr2:189855034:G:A 4401_746_249_G->D 520 chr2:189855042:G:C 4401_754_252_G->R 520 chr2:189855043:G:A 4401_755_252_G->D 520 chr2:189855043:G:T 4401_755_252_G->V 520 chr2:189855052:G:T 4401_764_255_G->V 520 chr2:189855052:G:A 4401_764_255_G->E 520 chr2:189855069:G:A 4401_781_261_G->S 520 chr2:189855070:G:A 4401_782_261_G->D 520 chr2:189855078:G:A 4401_790_264_G->R 520 chr2:189855079:G:A 4401_791_264_G->E 520 chr2:189855730:G:A 4401_799_267_G->S 520 chr2:189855731:G:T 4401_800_267_G->V 520 chr2:189855740:G:A 4401_809_270_G->E 520 chr2:189855743:G:A 4401_812_271_R->Q 520 chr2:189855758:G:A 4401_827_276_G->D 520 chr2:189855767:G:A 4401_836_279_G->D 520 chr2:189855775:G:A 4401_844_282_G->R 520 chr2:189856249:G:A 4401_889_297_G->R 520 chr2:189856395:G:C 4401_898_300_G->R 520 chr2:189856396:G:A 4401_899_300_G->D 520 chr2:189856396:G:T 4401_899_300_G->V 520 chr2:189856404:G:A 4401_907_303_G->R 520 chr2:189856423:G:A 4401_926_309_G->E 520 chr2:189856441:G:C 4401_944_315_G->A 520 chr2:189856920:G:T 4401_962_321_G->V 520 chr2:189856920:G:A 4401_962_321_G->D 520 chr2:189856928:G:A 4401_970_324_G->S 520 chr2:189856938:G:A 4401_980_327_G->D 520 chr2:189857614:G:A 4401_998_333_G->D 520 chr2:189857649:G:A 4401_1033_345_G->R 520 chr2:189858088:G:T 4401_1052_351_G->V 520 chr2:189858123:G:A 4401_1087_363_G->S 520 chr2:189858132:G:A 4401_1096_366_G->R 520 chr2:189858151:G:T 4401_1115_372_G->V 520 chr2:189858160:G:A 4401_1124_375_G->E 520 chr2:189858178:G:A 4401_1142_381_G->D 520 chr2:189858765:G:A 4401_1151_384_G->D 520 chr2:189858773:G:T 4401_1159_387_G->W 520 chr2:189858996:G:C 4401_1231_411_G->R 520 chr2:189859005:G:T 4401_1240_414_G->C 520 chr2:189859014:G:A 4401_1249_417_G->R 520 chr2:189859023:G:A 4401_1258_420_G->S 520 chr2:189859032:G:A 4401_1267_423_G->S 520 chr2:189859033:G:A 4401_1268_423_G->D 520 chr2:189859303:G:C 4401_1330_444_G->R 520 chr2:189859303:G:A 4401_1330_444_G->R 520 chr2:189859460:G:A 4401_1358_453_G->D 520 chr2:189859486:G:A 4401_1384_462_G->S 520 chr2:189859782:G:A 4401_1466_489_G->E 520 chr2:189859790:G:A 4401_1474_492_G->R 520 chr2:189859791:G:T 4401_1475_492_G->V 520 chr2:189859791:G:A 4401_1475_492_G->E 520 chr2:189859817:G:A 4401_1501_501_G->R 520 chr2:189859818:G:C 4401_1502_501_G->A 520 chr2:189860419:G:T 4401_1511_504_G->V 520 chr2:189860419:G:A 4401_1511_504_G->D 520 chr2:189860458:C:T 4401_1550_517_P->L 520 chr2:189860464:G:A 4401_1556_519_G->E 520 chr2:189860860:G:A 4401_1618_540_G->R 520 chr2:189860888:G:A 4401_1646_549_G->E 520 chr2:189860897:G:A 4401_1655_552_G->E 520 chr2:189861161:G:A 4401_1700_567_G->E 520 chr2:189861179:G:A 4401_1718_573_G->D 520 chr2:189861205:G:A 4401_1744_582_G->S 520 chr2:189861205:G:C 4401_1744_582_G->R 520 chr2:189861892:G:A 4401_1763_588_G->D 520 chr2:189861901:G:A 4401_1772_591_G->D 520 chr2:189861937:G:A 4401_1808_603_G->D 520 chr2:189861937:G:T 4401_1808_603_G->V 520 chr2:189862062:G:C 4401_1816_606_G->R 520 chr2:189862081:G:A 4401_1835_612_G->D 520 chr2:189862090:G:A 4401_1844_615_G->E 520 chr2:189862107:G:T 4401_1861_621_G->W 520 chr2:189862107:G:C 4401_1861_621_G->R 520 chr2:189862108:G:T 4401_1862_621_G->V 520 chr2:189862108:G:A 4401_1862_621_G->E 520 chr2:189862454:G:A 4401_1898_633_G->E 520 chr2:189862462:G:C 4401_1906_636_G->R 520 chr2:189862471:G:A 4401_1915_639_G->R 520 chr2:189862472:G:A 4401_1916_639_G->E 520 chr2:189862472:G:T 4401_1916_639_G->V 520 chr2:189862993:G:T 4401_1925_642_G->V 520 chr2:189862993:G:A 4401_1925_642_G->D 520 chr2:189863029:G:A 4401_1961_654_G->E 520 chr2:189863038:G:A 4401_1970_657_G->E 520 chr2:189863401:G:A 4401_1979_660_G->D 520 chr2:189863409:G:C 4401_1987_663_G->R 520 chr2:189863410:G:T 4401_1988_663_G->V 520 chr2:189863410:G:A 4401_1988_663_G->D 520 chr2:189863419:G:A 4401_1997_666_G->D 520 chr2:189863424:C:A 4401_2002_668_P->T 520 chr2:189863444:G:T 4401_2022_674_K->N 520 chr2:189864012:G:T 4401_2024_675_G->V 520 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4401_2995_999_G->S 520 chr2:189870140:G:A 4401_2996_999_G->D 520 chr2:189870167:G:A 4401_3023_1008_G->D 520 chr2:189870176:G:A 4401_3032_1011_G->E 520 chr2:189870933:G:A 4401_3041_1014_G->E 520 chr2:189871072:G:T 4401_3095_1032_G->V 520 chr2:189871080:G:T 4401_3103_1035_G->C 520 chr2:189871081:G:T 4401_3104_1035_G->V 520 chr2:189871099:G:T 4401_3122_1041_G->V 520 chr2:189871108:G:A 4401_3131_1044_G->D 520 chr2:189871110:G:A 4401_3133_1045_A->T 520 chr2:189871117:G:A 4401_3140_1047_G->D 520 chr2:189871126:G:T 4401_3149_1050_G->V 520 chr2:189871126:G:A 4401_3149_1050_G->D 520 chr2:189871134:G:C 4401_3157_1053_G->R 520 chr2:189871135:G:A 4401_3158_1053_G->D 520 chr2:189871144:G:A 4401_3167_1056_G->D 520 chr2:189871153:G:T 4401_3176_1059_G->V 520 chr2:189871170:G:A 4401_3193_1065_G->R 520 chr2:189871664:G:T 4401_3203_1068_G->V 520 chr2:189871673:G:T 4401_3212_1071_G->V 520 chr2:189871681:G:A 4401_3220_1074_G->S 520 chr2:189871691:G:T 4401_3230_1077_G->V 520 chr2:189871700:G:A 4401_3239_1080_G->D 520 chr2:189872226:G:T 4401_3256_1086_G->C 520 chr2:189872236:G:A 4401_3266_1089_G->D 520 chr2:189872245:G:T 4401_3275_1092_G->V 520 chr2:189872254:G:A 4401_3284_1095_G->D 520 chr2:189872263:G:A 4401_3293_1098_G->D 520 chr2:189872263:G:T 4401_3293_1098_G->V 520 chr2:189872271:G:A 4401_3301_1101_G->R 520 chr2:189872272:G:A 4401_3302_1101_G->E 520 chr2:189872281:G:C 4401_3311_1104_G->A 520 chr2:189872289:G:C 4401_3319_1107_G->R 520 chr2:189872289:G:A 4401_3319_1107_G->R 520 chr2:189872317:G:T 4401_3347_1116_G->V 520 chr2:189872326:G:A 4401_3356_1119_G->D 520 chr2:189872638:G:A 4401_3391_1131_G->S 520 chr2:189872657:G:A 4401_3410_1137_G->D 520 chr2:189872762:G:A 4401_3419_1140_G->E 520 chr2:189872771:G:A 4401_3428_1143_G->E 520 chr2:189872780:G:A 4401_3437_1146_G->E 520 chr2:189872815:G:C 4401_3472_1158_G->R 520 chr2:189872816:G:A 4401_3473_1158_G->D 520 chr2:189872825:G:T 4401_3482_1161_G->V 520 chr2:189872825:G:A 4401_3482_1161_G->E 520 chr2:189872833:G:C 4401_3490_1164_G->R 520 chr2:189872833:G:A 4401_3490_1164_G->R 520 chr2:189872833:G:T 4401_3490_1164_G->W 520 chr2:189872834:G:T 4401_3491_1164_G->V 520 chr2:189872834:G:A 4401_3491_1164_G->E 520 chr2:189872842:G:C 4401_3499_1167_G->R 520 chr2:189872842:G:T 4401_3499_1167_G->C 520 chr2:189872843:G:T 4401_3500_1167_G->V 520 chr2:189872851:G:A 4401_3508_1170_G->S 520 chr2:189872852:G:A 4401_3509_1170_G->D 520 chr2:189872852:G:T 4401_3509_1170_G->V 520 chr2:189872860:G:C 4401_3517_1173_G->R 520 chr2:189872860:G:A 4401_3517_1173_G->R 520 chr2:189872861:G:A 4401_3518_1173_G->E 520 chr2:189872861:G:T 4401_3518_1173_G->V 520 chr2:189873650:G:A 4401_3526_1176_G->S 520 chr2:189873651:G:T 4401_3527_1176_G->V 520 chr2:189873651:G:A 4401_3527_1176_G->D 520 chr2:189873659:G:C 4401_3535_1179_G->R 520 chr2:189873660:G:T 4401_3536_1179_G->V 520 chr2:189873668:G:A 4401_3544_1182_G->R 520 chr2:189873669:G:T 4401_3545_1182_G->V 520 chr2:189873669:G:A 4401_3545_1182_G->E 520 chr2:189873678:G:A 4401_3554_1185_G->D 520 chr2:189873678:G:T 4401_3554_1185_G->V 520 chr2:189873686:G:A 4401_3562_1188_G->R 520 chr2:189873687:G:T 4401_3563_1188_G->V 520 chr2:189873687:G:A 4401_3563_1188_G->E 520 chr2:189873696:G:A 4401_3572_1191_G->D 520 chr2:189873900:C:T 4401_3776_1259_A->V 520 chr2:189874931:G:A 4401_3851_1284_G->E 520 chr2:189874943:A:T 4401_3863_1288_D->V 520 chr2:189875018:A:G 4401_3938_1313_K->R 520 chr2:189876417:C:T 4401_4318_1440_P->S 520 oneKG Variants: 520 chr2:189861175:C:T 4401_1714_572_R->* 0.000199681 520 chr2:189839255:G:T 4401_40_14_A->S 0.000199681 520 chr2:189849494:G:A 4401_88_30_G->R 0.000199681 520 chr2:189849525:C:A 4401_119_40_A->E 0.000399361 520 chr2:189849536:G:A 4401_130_44_V->I 0.00119808 520 chr2:189849611:G:A 4401_205_69_D->N 0.000199681 520 chr2:189849678:C:T 4401_272_91_P->L 0.000199681 520 chr2:189849956:G:A 4401_316_106_G->S 0.000199681 520 chr2:189851845:G:A 4401_508_170_A->T 0.000399361 520 chr2:189854835:G:T 4401_704_235_R->I 0.000199681 520 chr2:189855743:G:A 4401_812_271_R->Q 0.000199681 520 chr2:189858111:C:G 4401_1075_359_P->A 0.000399361 520 chr2:189858779:A:T 4401_1165_389_N->Y 0.000199681 520 chr2:189858803:G:A 4401_1189_397_E->K 0.000199681 520 chr2:189859003:G:A 4401_1238_413_R->Q 0.000199681 520 chr2:189859292:A:T 4401_1319_440_K->I 0.000199681 520 chr2:189860424:G:T 4401_1516_506_A->S 0.000199681 520 chr2:189860458:C:T 4401_1550_517_P->L 0.000998403 520 chr2:189861158:C:T 4401_1697_566_P->L 0.00119808 520 chr2:189861922:G:C 4401_1793_598_G->A 0.000199681 520 chr2:189861933:C:A 4401_1804_602_P->T 0.00459265 520 chr2:189863040:G:A 4401_1972_658_E->K 0.000199681 520 chr2:189863424:C:A,T 4401_2002_668_P->T 0.00219649 520 chr2:189863424:C:A,T 4401_2002_668_P->S 0.00219649 520 chr2:189864023:G:A 4401_2035_679_A->T 0.00179712 520 chr2:189864044:C:G 4401_2056_686_P->A 0.000998403 520 chr2:189864080:G:A 4401_2092_698_A->T 0.21845 520 chr2:189864199:G:T 4401_2125_709_A->S 0.000199681 520 chr2:189864294:G:T 4401_2220_740_K->N 0.000199681 520 chr2:189864296:G:A 4401_2222_741_G->D 0.000199681 520 chr2:189864599:T:A 4401_2261_754_V->D 0.000199681 520 chr2:189867048:C:G 4401_2416_806_P->A 0.000199681 520 chr2:189868748:A:G 4401_2702_901_K->R 0.000199681 520 chr2:189869077:C:T 4401_2918_973_P->L 0.000199681 520 chr2:189870163:G:A 4401_3019_1007_A->T 0.000399361 520 chr2:189870953:C:A 4401_3061_1021_L->I 0.000998403 520 chr2:189871110:G:A 4401_3133_1045_A->T 0.00179712 520 chr2:189871174:A:G 4401_3197_1066_E->G 0.000199681 520 chr2:189871706:G:A 4401_3245_1082_R->Q 0.000199681 520 chr2:189872804:G:C 4401_3461_1154_S->T 0.000399361 520 chr2:189873731:G:A 4401_3607_1203_A->T 0.000199681 520 chr2:189873737:A:G 4401_3613_1205_I->V 0.0107827 520 chr2:189873805:C:A 4401_3681_1227_F->L 0.000199681 520 chr2:189873818:G:A 4401_3694_1232_D->N 0.000399361 520 chr2:189873900:C:T 4401_3776_1259_A->V 0.000199681 520 chr2:189873942:A:G 4401_3818_1273_K->R 0.000199681 520 chr2:189875383:G:A 4401_4021_1341_G->S 0.000399361 520 chr2:189875421:T:G 4401_4059_1353_H->Q 0.003395 520 chr2:189875586:C:G 4401_4224_1408_F->L 0.000199681 520 chr2:189876477:G:A 4401_4378_1460_V->I 0.000199681 520 na12878 Variants: 520 chr2:189864080:G:A 4401_2092_698_A->T 520 chr2:189875421:T:G 4401_4059_1353_H->Q 520 snyder Variants: 520 chr2:189875421:T:G 4401_4059_1353_H->Q 521 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138376_ENST00000260947 gene_Name: BARD1_HUMAN 521 list of pdbs: 521 3FA2 pdb_description: 23-Dec-08 X-ray 2.200 Crystal structure of the brca1 associated ring domain (bard1 brct domains 521 3C5R pdb_description: 13-May-08 X-ray 2.000 Crystal structure of the bard1 ankyrin repeat domain and its functional consequences 521 2R1Z pdb_description: 04-Sep-07 X-ray 2.100 Crystal structure of the bard1 brct repeat 521 2NTE pdb_description: 12-Jun-07 X-ray 1.900 Crystal structure of the bard1 brct domains 521 1JM7 pdb_description: 03-Oct-01 NMR 14 Solution structure of the brca1/bard1 ring-domain heterodimer 521 Zimmer Variants: 521 chr2:215632255:C:T 2334_1519_507_V->M 521 chr2:215645464:C:G 2334_1134_378_R->S 521 HGMD Variants: 521 chr2:215595215:G:A 2334_1921_641_R->* 521 chr2:215610566:G:A 2334_1690_564_Q->* 521 chr2:215617196:G:C 2334_1652_551_S->* 521 chr2:215657051:G:A 2334_334_112_R->* 521 chr2:215595164:G:A 2334_1972_658_R->C 521 chr2:215610564:C:G 2334_1692_564_Q->H 521 chr2:215617178:C:G 2334_1670_557_C->S 521 chr2:215632248:A:G 2334_1526_509_I->T 521 chr2:215632255:C:T 2334_1519_507_V->M 521 chr2:215632365:T:C 2334_1409_470_N->S 521 chr2:215633990:G:A 2334_1361_454_P->L 521 chr2:215645464:C:G 2334_1134_378_R->S 521 chr2:215645662:T:A 2334_936_312_K->N 521 chr2:215645714:T:C 2334_884_295_N->S 521 chr2:215674224:G:A 2334_70_24_P->S 521 oneKG Variants: 521 chr2:215645657:A:T 2334_941_314_L->* 0.000199681 521 chr2:215593452:C:T 2334_2282_761_S->N 0.000199681 521 chr2:215593522:T:C 2334_2212_738_I->V 0.00559105 521 chr2:215593543:G:A,C 2334_2191_731_R->C 0.000599042 521 chr2:215593543:G:A,C 2334_2191_731_R->G 0.000599042 521 chr2:215593597:C:T 2334_2137_713_V->M 0.000199681 521 chr2:215593603:T:C 2334_2131_711_S->G 0.000199681 521 chr2:215595148:T:C 2334_1988_663_N->S 0.000199681 521 chr2:215595151:A:C 2334_1985_662_L->R 0.000199681 521 chr2:215595163:C:T 2334_1973_658_R->H 0.000399361 521 chr2:215595164:G:A 2334_1972_658_R->C 0.00539137 521 chr2:215595169:C:T 2334_1967_656_G->D 0.000399361 521 chr2:215595203:A:G 2334_1933_645_C->R 0.0253594 521 chr2:215610491:C:A 2334_1765_589_A->S 0.000199681 521 chr2:215610494:G:A 2334_1762_588_L->F 0.000199681 521 chr2:215610518:C:T 2334_1738_580_E->K 0.00519169 521 chr2:215610562:C:T 2334_1694_565_R->H 0.000199681 521 chr2:215617178:C:G 2334_1670_557_C->S 0.00798722 521 chr2:215617247:G:A 2334_1601_534_T->I 0.000599042 521 chr2:215632255:C:T 2334_1519_507_V->M 0.366214 521 chr2:215645304:G:A 2334_1294_432_L->F 0.000199681 521 chr2:215645343:T:C 2334_1255_419_N->D 0.000199681 521 chr2:215645429:A:T 2334_1169_390_L->H 0.000199681 521 chr2:215645437:G:T 2334_1161_387_F->L 0.000199681 521 chr2:215645464:C:G 2334_1134_378_R->S 0.459265 521 chr2:215645531:T:A 2334_1067_356_N->I 0.000399361 521 chr2:215645582:C:T 2334_1016_339_S->N 0.000199681 521 chr2:215645604:T:G 2334_994_332_I->L 0.000199681 521 chr2:215645646:T:C 2334_952_318_N->D 0.000199681 521 chr2:215645702:G:A 2334_896_299_T->I 0.000199681 521 chr2:215645825:A:G 2334_773_258_I->T 0.00199681 521 chr2:215645834:T:C 2334_764_255_N->S 0.000199681 521 chr2:215645850:A:G 2334_748_250_S->P 0.000199681 521 chr2:215645876:G:C 2334_722_241_S->C 0.00259585 521 chr2:215645930:T:C 2334_668_223_E->G 0.000199681 521 chr2:215645978:T:C 2334_620_207_K->R 0.00359425 521 chr2:215646017:C:T 2334_581_194_R->K 0.000399361 521 chr2:215646027:C:T 2334_571_191_V->I 0.000199681 521 chr2:215646047:G:A 2334_551_184_S->F 0.000199681 521 chr2:215657039:G:A 2334_346_116_H->Y 0.000199681 521 chr2:215657077:C:T 2334_308_103_S->N 0.000199681 521 chr2:215657132:C:A 2334_253_85_V->L 0.00119808 521 chr2:215657152:C:T 2334_233_78_C->Y 0.000199681 521 chr2:215674139:C:T 2334_155_52_R->H 0.000199681 521 chr2:215674224:G:A 2334_70_24_P->S 0.33127 521 chr2:215674250:C:A 2334_44_15_R->L 0.000199681 521 chr2:215674261:C:A 2334_33_11_Q->H 0.000399361 521 chr2:215674293:T:C 2334_1_1_M->V 0.000199681 521 na12878 Variants: 521 chr2:215595164:G:A 2334_1972_658_R->C 521 chr2:215632255:C:T 2334_1519_507_V->M 521 chr2:215645464:C:G 2334_1134_378_R->S 521 snyder Variants: 521 chr2:215645464:C:G 2334_1134_378_R->S 522 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124006_ENST00000404537 gene_Name: OBSL1_HUMAN 522 list of pdbs: 522 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 522 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 522 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 522 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 522 2LVC pdb_description: 29-Aug-12 NMR 20 Solution nmr structure of ig like domain (805-892) of obscur protein 1 from homo sapiens, northeast structural genomics (nesg) target hr8578k 522 2LU7 pdb_description: 22-Aug-12 NMR 20 Solution nmr structure of ig like domain (1277-1357) of obsc protein 1 from homo sapiens, northeast structural genomics (nesg) target hr8578d 522 2E6Q pdb_description: 03-Jul-07 NMR 20 Solution structure of the ig-like domain (615-713) from human obscurin-like protein 1 522 2E6P pdb_description: 03-Jul-07 NMR 20 Solution structure of the ig-like domain (714-804) from human obscurin-like protein 1 522 2CPC pdb_description: 19-Nov-05 NMR 20 Solution structure of rsgi ruh-030, an ig like domain from human cdna 522 Zimmer Variants: 522 chr2:220419339:T:C 5691_4733_1578_Q->R;GENE=OBSL1;CDSS=2 522 chr2:220421417:C:G 5691_4095_1365_E->D 522 chr2:220430203:C:T 5691_2168_723_R->K 522 HGMD Variants: 522 chr2:220428323:G:A 5691_2434_812_R->* 522 chr2:220431654:G:A 5691_2032_678_Q->* 522 chr2:220432509:G:A 5691_1465_489_R->* 522 chr2:220432910:G:T 5691_1149_383_C->* 522 chr2:220435027:G:A 5691_928_310_Q->* 522 chr2:220422963:C:T 5691_3445_1149_G->R 522 chr2:220432940:C:G 5691_1119_373_W->C 522 oneKG Variants: 522 chr2:220418334:C:A 5691_4951_1651_E->* 0.000199681 522 chr2:220419340:G:A 5691_4732_1578_Q->* 0.00359425 522 chr2:220420898:G:A 5691_4453_1485_R->* 0.000199681 522 chr2:220422209:G:A 5691_3922_1308_R->* 0.000399361 522 chr2:220423067:C:T 5691_3341_1114_W->* 0.000199681 522 chr2:220427337:C:A 5691_2740_914_E->* 0.000199681 522 chr2:220416420:G:T 5691_5514_1838_H->Q 0.000199681 522 chr2:220416437:A:G 5691_5497_1833_S->P 0.000199681 522 chr2:220416457:G:A 5691_5477_1826_A->V 0.000399361 522 chr2:220416493:G:A 5691_5441_1814_P->L 0.000199681 522 chr2:220416494:G:C 5691_5440_1814_P->A 0.000199681 522 chr2:220416514:G:A 5691_5420_1807_P->L 0.000199681 522 chr2:220416843:C:G 5691_5404_1802_E->Q 0.000399361 522 chr2:220416870:C:G 5691_5377_1793_G->R 0.000199681 522 chr2:220417266:C:T 5691_5300_1767_R->Q 0.376597 522 chr2:220417321:C:T 5691_5245_1749_G->R 0.000199681 522 chr2:220417356:G:T 5691_5210_1737_T->K 0.000199681 522 chr2:220417364:G:T 5691_5202_1734_D->E 0.00459265 522 chr2:220418342:A:G 5691_4943_1648_F->S 0.000199681 522 chr2:220418388:G:A 5691_4897_1633_R->W 0.000199681 522 chr2:220418391:C:T 5691_4894_1632_V->M 0.000199681 522 chr2:220419202:C:G 5691_4870_1624_V->L 0.000199681 522 chr2:220419217:C:T 5691_4855_1619_A->T 0.000199681 522 chr2:220419234:G:A 5691_4838_1613_A->V 0.000199681 522 chr2:220419294:C:T 5691_4778_1593_R->H 0.00139776 522 chr2:220419339:T:C 5691_4733_1578_Q->R 0.038938 522 chr2:220419352:G:A 5691_4720_1574_R->W 0.000199681 522 chr2:220419364:C:T 5691_4708_1570_G->R 0.000399361 522 chr2:220420784:C:T 5691_4567_1523_E->K 0.000199681 522 chr2:220420868:G:A 5691_4483_1495_R->C 0.000199681 522 chr2:220420874:C:T 5691_4477_1493_D->N 0.00239617 522 chr2:220420897:C:T 5691_4454_1485_R->Q 0.000199681 522 chr2:220420918:G:A 5691_4433_1478_A->V 0.000199681 522 chr2:220420922:C:T 5691_4429_1477_A->T 0.000798722 522 chr2:220420990:C:T 5691_4361_1454_R->Q 0.00479233 522 chr2:220421217:C:T 5691_4295_1432_R->Q 0.000199681 522 chr2:220421224:T:C 5691_4288_1430_T->A 0.000199681 522 chr2:220421310:G:A 5691_4202_1401_P->L 0.000798722 522 chr2:220421320:C:T 5691_4192_1398_V->I 0.00479233 522 chr2:220421325:C:A 5691_4187_1396_G->V 0.000199681 522 chr2:220421353:C:G 5691_4159_1387_D->H 0.000199681 522 chr2:220421395:C:T 5691_4117_1373_E->K 0.0153754 522 chr2:220421412:G:A 5691_4100_1367_T->I 0.000199681 522 chr2:220421417:C:G 5691_4095_1365_E->D 0.275359 522 chr2:220421421:G:A 5691_4091_1364_S->L 0.000199681 522 chr2:220422065:C:T 5691_4066_1356_E->K 0.000199681 522 chr2:220422071:C:T 5691_4060_1354_V->M 0.000599042 522 chr2:220422103:G:A 5691_4028_1343_A->V 0.000199681 522 chr2:220422107:C:T 5691_4024_1342_D->N 0.000199681 522 chr2:220422125:C:T 5691_4006_1336_A->T 0.000199681 522 chr2:220422151:C:T 5691_3980_1327_R->Q 0.000399361 522 chr2:220422152:G:A 5691_3979_1327_R->W 0.000199681 522 chr2:220422181:A:T 5691_3950_1317_L->Q 0.00778754 522 chr2:220422248:C:T 5691_3883_1295_G->R 0.000199681 522 chr2:220422275:C:T 5691_3856_1286_D->N 0.000399361 522 chr2:220422278:C:T 5691_3853_1285_G->R 0.000199681 522 chr2:220422281:C:T 5691_3850_1284_G->S 0.00139776 522 chr2:220422292:C:T 5691_3839_1280_R->Q 0.00179712 522 chr2:220422298:C:G 5691_3833_1278_R->T 0.000199681 522 chr2:220422328:C:T 5691_3803_1268_R->Q 0.000199681 522 chr2:220422557:C:T 5691_3778_1260_V->I 0.000199681 522 chr2:220422569:G:A 5691_3766_1256_L->F 0.000798722 522 chr2:220422583:G:A 5691_3752_1251_P->L 0.00399361 522 chr2:220422586:G:A 5691_3749_1250_A->V 0.000199681 522 chr2:220422635:C:T 5691_3700_1234_A->T 0.000199681 522 chr2:220422650:C:T 5691_3685_1229_V->I 0.000399361 522 chr2:220422686:C:T 5691_3649_1217_E->K 0.00698882 522 chr2:220422698:C:T 5691_3637_1213_V->M 0.000399361 522 chr2:220422731:C:T 5691_3604_1202_A->T 0.00179712 522 chr2:220422740:G:A 5691_3595_1199_R->W 0.00179712 522 chr2:220422790:G:A 5691_3545_1182_P->L 0.000399361 522 chr2:220422812:C:G 5691_3523_1175_A->P 0.000199681 522 chr2:220422817:A:G 5691_3518_1173_F->S 0.000199681 522 chr2:220422990:G:T 5691_3418_1140_L->M 0.000199681 522 chr2:220423071:G:A 5691_3337_1113_R->C 0.000199681 522 chr2:220423085:G:C 5691_3323_1108_A->G 0.000998403 522 chr2:220423104:G:A 5691_3304_1102_R->C 0.000599042 522 chr2:220423115:C:T 5691_3293_1098_R->H 0.000199681 522 chr2:220423125:C:T 5691_3283_1095_A->T 0.00219649 522 chr2:220424045:C:T 5691_3128_1043_R->H 0.000399361 522 chr2:220424046:G:A 5691_3127_1043_R->C 0.00119808 522 chr2:220424056:C:A 5691_3117_1039_R->S 0.000199681 522 chr2:220424091:C:G 5691_3082_1028_E->Q 0.000798722 522 chr2:220424111:C:T 5691_3062_1021_R->H 0.000199681 522 chr2:220424112:G:A 5691_3061_1021_R->C 0.000399361 522 chr2:220424129:C:T 5691_3044_1015_R->Q 0.000199681 522 chr2:220424184:C:T 5691_2989_997_V->M 0.000199681 522 chr2:220424192:C:T 5691_2981_994_R->H 0.00519169 522 chr2:220427130:C:T 5691_2947_983_V->I 0.000199681 522 chr2:220427154:C:G 5691_2923_975_E->Q 0.000199681 522 chr2:220427162:A:G 5691_2915_972_I->T 0.000199681 522 chr2:220427210:A:G 5691_2867_956_V->A 0.000199681 522 chr2:220427297:G:A 5691_2780_927_A->V 0.000199681 522 chr2:220427307:G:A 5691_2770_924_R->W 0.000199681 522 chr2:220427343:G:A 5691_2734_912_R->C 0.000199681 522 chr2:220427361:C:T 5691_2716_906_V->M 0.000199681 522 chr2:220427379:C:T 5691_2698_900_V->M 0.000199681 522 chr2:220428157:G:T 5691_2600_867_P->H 0.000399361 522 chr2:220428179:G:A 5691_2578_860_P->S 0.00479233 522 chr2:220428241:C:T 5691_2516_839_R->H 0.000199681 522 chr2:220428308:C:T 5691_2449_817_V->M 0.000199681 522 chr2:220429966:T:G 5691_2405_802_Q->P 0.000199681 522 chr2:220430038:G:A 5691_2333_778_A->V 0.000199681 522 chr2:220430056:C:T 5691_2315_772_R->H 0.000599042 522 chr2:220430203:C:T 5691_2168_723_R->K 0.207268 522 chr2:220431582:C:T 5691_2104_702_V->M 0.000399361 522 chr2:220431585:C:T 5691_2101_701_G->S 0.000199681 522 chr2:220431630:C:T 5691_2056_686_V->I 0.0 522 chr2:220431674:C:T 5691_2012_671_R->H 0.00119808 522 chr2:220431687:C:T 5691_1999_667_A->T 0.00419329 522 chr2:220431774:C:T 5691_1912_638_D->N 0.00179712 522 chr2:220431786:C:T 5691_1900_634_V->I 0.000199681 522 chr2:220431801:C:T 5691_1885_629_D->N 0.000399361 522 chr2:220431836:C:T 5691_1850_617_R->H 0.000399361 522 chr2:220432043:C:T 5691_1789_597_G->R 0.000599042 522 chr2:220432094:C:T 5691_1738_580_D->N 0.000199681 522 chr2:220432169:G:A 5691_1663_555_R->W 0.000798722 522 chr2:220432244:G:T 5691_1588_530_H->N 0.000199681 522 chr2:220432291:T:G 5691_1541_514_K->T 0.000199681 522 chr2:220432466:C:T 5691_1508_503_R->H 0.0 522 chr2:220432476:C:T 5691_1498_500_G->S 0.000599042 522 chr2:220432659:C:T 5691_1315_439_D->N 0.000399361 522 chr2:220432798:C:G 5691_1261_421_V->L 0.000199681 522 chr2:220432804:G:A 5691_1255_419_R->C 0.000599042 522 chr2:220432809:C:T 5691_1250_417_R->Q 0.000199681 522 chr2:220432831:A:G 5691_1228_410_Y->H 0.00139776 522 chr2:220432936:G:A 5691_1123_375_R->C 0.000199681 522 chr2:220432954:T:C 5691_1105_369_I->V 0.000199681 522 chr2:220432956:C:T 5691_1103_368_R->H 0.000199681 522 chr2:220432957:G:A 5691_1102_368_R->C 0.0153754 522 chr2:220433001:C:T 5691_1058_353_R->H 0.000599042 522 chr2:220433029:T:C 5691_1030_344_T->A 0.000399361 522 chr2:220433041:G:A 5691_1018_340_R->C 0.000399361 522 chr2:220434963:G:T 5691_992_331_A->D 0.000199681 522 chr2:220435063:G:A 5691_892_298_R->C 0.000199681 522 chr2:220435075:T:C 5691_880_294_M->V 0.000199681 522 chr2:220435104:C:T 5691_851_284_R->H 0.000998403 522 chr2:220435153:A:G 5691_802_268_Y->H 0.000199681 522 chr2:220435165:T:C 5691_790_264_K->E 0.000199681 522 chr2:220435201:G:A 5691_754_252_P->S 0.000199681 522 chr2:220435204:C:A 5691_751_251_A->S 0.00399361 522 chr2:220435228:G:C 5691_727_243_P->A 0.000199681 522 chr2:220435236:G:T 5691_719_240_A->D 0.000199681 522 chr2:220435252:C:T 5691_703_235_A->T 0.000199681 522 chr2:220435257:G:A 5691_698_233_P->L 0.000199681 522 chr2:220435264:C:G 5691_691_231_E->Q 0.000798722 522 chr2:220435362:G:T 5691_593_198_A->E 0.000399361 522 chr2:220435365:A:G 5691_590_197_L->P 0.000199681 522 chr2:220435386:G:C 5691_569_190_A->G 0.00638978 522 chr2:220435395:C:T 5691_560_187_G->D 0.000199681 522 chr2:220435492:G:A 5691_463_155_P->S 0.000399361 522 chr2:220435506:C:T 5691_449_150_R->Q 0.000599042 522 chr2:220435558:C:G 5691_397_133_G->R 0.000399361 522 chr2:220435836:G:C 5691_119_40_P->R 0.00898562 522 chr2:220435873:C:T 5691_82_28_E->K 0.000199681 522 chr2:220435876:C:T 5691_79_27_A->T 0.000399361 522 chr2:220435880:A:C 5691_75_25_S->R 0.000199681 522 chr2:220435894:C:T 5691_61_21_V->M 0.000199681 522 na12878 Variants: 522 chr2:220417266:C:T 5691_5300_1767_R->Q 522 chr2:220419339:T:C 5691_4733_1578_Q->R 522 chr2:220421417:C:G 5691_4095_1365_E->D 522 chr2:220430203:C:T 5691_2168_723_R->K 522 chr2:220422686:C:T 5691_3649_1217_E->K 522 snyder Variants: 522 chr2:220419339:T:C 5691_4733_1578_Q->R 522 chr2:220421417:C:G 5691_4095_1365_E->D 522 chr2:220430203:C:T 5691_2168_723_R->K 523 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124006_ENST00000373873 gene_Name: OBSL1_HUMAN 523 list of pdbs: 523 3KNB pdb_description: 01-Dec-09 X-ray 1.400 Crystal structure of the titin c-terminus in complex with ob like 1 523 2WWM pdb_description: 16-Feb-10 X-ray 2.300 Crystal structure of the titin m10-obscurin like 1 ig complex in space group p1 523 2WWK pdb_description: 16-Feb-10 X-ray 1.700 Crystal structure of the titin m10-obscurin like 1 ig f17r mutant complex 523 2WP3 pdb_description: 16-Feb-10 X-ray 1.480 Crystal structure of the titin m10-obscurin like 1 ig complex 523 2LVC pdb_description: 29-Aug-12 NMR 20 Solution nmr structure of ig like domain (805-892) of obscur protein 1 from homo sapiens, northeast structural genomics (nesg) target hr8578k 523 2LU7 pdb_description: 22-Aug-12 NMR 20 Solution nmr structure of ig like domain (1277-1357) of obsc protein 1 from homo sapiens, northeast structural genomics (nesg) target hr8578d 523 2E6Q pdb_description: 03-Jul-07 NMR 20 Solution structure of the ig-like domain (615-713) from human obscurin-like protein 1 523 2E6P pdb_description: 03-Jul-07 NMR 20 Solution structure of the ig-like domain (714-804) from human obscurin-like protein 1 523 2CPC pdb_description: 19-Nov-05 NMR 20 Solution structure of rsgi ruh-030, an ig like domain from human cdna 523 Zimmer Variants: 523 chr2:220430203:C:T 3078_2168_723_R->K 523 HGMD Variants: 523 chr2:220428323:G:A 3078_2434_812_R->* 523 chr2:220431654:G:A 3078_2032_678_Q->* 523 chr2:220432509:G:A 3078_1465_489_R->* 523 chr2:220432910:G:T 3078_1149_383_C->* 523 chr2:220435027:G:A 3078_928_310_Q->* 523 chr2:220432940:C:G 3078_1119_373_W->C 523 oneKG Variants: 523 chr2:220427337:C:A 3078_2740_914_E->* 0.000199681 523 chr2:220426623:T:C 3078_3061_1021_T->A 0.000199681 523 chr2:220426628:C:T 3078_3056_1019_R->Q 0.000399361 523 chr2:220426675:C:A 3078_3009_1003_L->F 0.000399361 523 chr2:220426683:C:T 3078_3001_1001_V->I 0.000399361 523 chr2:220426694:G:A 3078_2990_997_P->L 0.000199681 523 chr2:220427130:C:T 3078_2947_983_V->I 0.000199681 523 chr2:220427154:C:G 3078_2923_975_E->Q 0.000199681 523 chr2:220427162:A:G 3078_2915_972_I->T 0.000199681 523 chr2:220427210:A:G 3078_2867_956_V->A 0.000199681 523 chr2:220427297:G:A 3078_2780_927_A->V 0.000199681 523 chr2:220427307:G:A 3078_2770_924_R->W 0.000199681 523 chr2:220427343:G:A 3078_2734_912_R->C 0.000199681 523 chr2:220427361:C:T 3078_2716_906_V->M 0.000199681 523 chr2:220427379:C:T 3078_2698_900_V->M 0.000199681 523 chr2:220428157:G:T 3078_2600_867_P->H 0.000399361 523 chr2:220428179:G:A 3078_2578_860_P->S 0.00479233 523 chr2:220428241:C:T 3078_2516_839_R->H 0.000199681 523 chr2:220428308:C:T 3078_2449_817_V->M 0.000199681 523 chr2:220429966:T:G 3078_2405_802_Q->P 0.000199681 523 chr2:220430038:G:A 3078_2333_778_A->V 0.000199681 523 chr2:220430056:C:T 3078_2315_772_R->H 0.000599042 523 chr2:220430203:C:T 3078_2168_723_R->K 0.207268 523 chr2:220431582:C:T 3078_2104_702_V->M 0.000399361 523 chr2:220431585:C:T 3078_2101_701_G->S 0.000199681 523 chr2:220431630:C:T 3078_2056_686_V->I 0.0 523 chr2:220431674:C:T 3078_2012_671_R->H 0.00119808 523 chr2:220431687:C:T 3078_1999_667_A->T 0.00419329 523 chr2:220431774:C:T 3078_1912_638_D->N 0.00179712 523 chr2:220431786:C:T 3078_1900_634_V->I 0.000199681 523 chr2:220431801:C:T 3078_1885_629_D->N 0.000399361 523 chr2:220431836:C:T 3078_1850_617_R->H 0.000399361 523 chr2:220432043:C:T 3078_1789_597_G->R 0.000599042 523 chr2:220432094:C:T 3078_1738_580_D->N 0.000199681 523 chr2:220432169:G:A 3078_1663_555_R->W 0.000798722 523 chr2:220432244:G:T 3078_1588_530_H->N 0.000199681 523 chr2:220432291:T:G 3078_1541_514_K->T 0.000199681 523 chr2:220432466:C:T 3078_1508_503_R->H 0.0 523 chr2:220432476:C:T 3078_1498_500_G->S 0.000599042 523 chr2:220432659:C:T 3078_1315_439_D->N 0.000399361 523 chr2:220432798:C:G 3078_1261_421_V->L 0.000199681 523 chr2:220432804:G:A 3078_1255_419_R->C 0.000599042 523 chr2:220432809:C:T 3078_1250_417_R->Q 0.000199681 523 chr2:220432831:A:G 3078_1228_410_Y->H 0.00139776 523 chr2:220432936:G:A 3078_1123_375_R->C 0.000199681 523 chr2:220432954:T:C 3078_1105_369_I->V 0.000199681 523 chr2:220432956:C:T 3078_1103_368_R->H 0.000199681 523 chr2:220432957:G:A 3078_1102_368_R->C 0.0153754 523 chr2:220433001:C:T 3078_1058_353_R->H 0.000599042 523 chr2:220433029:T:C 3078_1030_344_T->A 0.000399361 523 chr2:220433041:G:A 3078_1018_340_R->C 0.000399361 523 chr2:220434963:G:T 3078_992_331_A->D 0.000199681 523 chr2:220435063:G:A 3078_892_298_R->C 0.000199681 523 chr2:220435075:T:C 3078_880_294_M->V 0.000199681 523 chr2:220435104:C:T 3078_851_284_R->H 0.000998403 523 chr2:220435153:A:G 3078_802_268_Y->H 0.000199681 523 chr2:220435165:T:C 3078_790_264_K->E 0.000199681 523 chr2:220435201:G:A 3078_754_252_P->S 0.000199681 523 chr2:220435204:C:A 3078_751_251_A->S 0.00399361 523 chr2:220435228:G:C 3078_727_243_P->A 0.000199681 523 chr2:220435236:G:T 3078_719_240_A->D 0.000199681 523 chr2:220435252:C:T 3078_703_235_A->T 0.000199681 523 chr2:220435257:G:A 3078_698_233_P->L 0.000199681 523 chr2:220435264:C:G 3078_691_231_E->Q 0.000798722 523 chr2:220435362:G:T 3078_593_198_A->E 0.000399361 523 chr2:220435365:A:G 3078_590_197_L->P 0.000199681 523 chr2:220435386:G:C 3078_569_190_A->G 0.00638978 523 chr2:220435395:C:T 3078_560_187_G->D 0.000199681 523 chr2:220435492:G:A 3078_463_155_P->S 0.000399361 523 chr2:220435506:C:T 3078_449_150_R->Q 0.000599042 523 chr2:220435558:C:G 3078_397_133_G->R 0.000399361 523 chr2:220435836:G:C 3078_119_40_P->R 0.00898562 523 chr2:220435873:C:T 3078_82_28_E->K 0.000199681 523 chr2:220435876:C:T 3078_79_27_A->T 0.000399361 523 chr2:220435880:A:C 3078_75_25_S->R 0.000199681 523 chr2:220435894:C:T 3078_61_21_V->M 0.000199681 523 na12878 Variants: 523 chr2:220430203:C:T 3078_2168_723_R->K 523 snyder Variants: 523 chr2:220430203:C:T 3078_2168_723_R->K 524 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000085978_ENST00000392017 gene_Name: A16L1_HUMAN 524 list of pdbs: 524 4GDL pdb_description: 05-Dec-12 X-ray 2.880 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 524 4GDK pdb_description: 05-Dec-12 X-ray 2.700 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 524 Zimmer Variants: 524 chr2:234183368:A:G 1824_898_300_T->A 524 HGMD Variants: 524 chr2:234183368:A:G 1824_898_300_T->A 524 oneKG Variants: 524 chr2:234160481:C:T 1824_8_3_S->L 0.000199681 524 chr2:234160541:G:T 1824_68_23_R->L 0.000199681 524 chr2:234160550:G:A 1824_77_26_R->Q 0.000199681 524 chr2:234173695:A:G 1824_547_183_T->A 0.000998403 524 chr2:234178662:G:A 1824_656_219_R->Q 0.00139776 524 chr2:234181613:G:T 1824_709_237_D->Y 0.000199681 524 chr2:234183368:A:G 1824_898_300_T->A 0.395966 524 chr2:234183377:G:A 1824_907_303_G->S 0.000199681 524 chr2:234186241:G:A 1824_982_328_V->M 0.000199681 524 chr2:234186309:A:T 1824_1050_350_E->D 0.000199681 524 chr2:234189757:G:A 1824_1067_356_C->Y 0.000199681 524 chr2:234198541:G:C 1824_1245_415_K->N 0.000199681 524 chr2:234198557:G:A 1824_1261_421_A->T 0.000199681 524 chr2:234201922:C:T 1824_1649_550_A->V 0.00499201 524 chr2:234201958:G:A 1824_1685_562_S->N 0.000199681 524 chr2:234202910:A:G 1824_1738_580_I->V 0.000199681 524 chr2:234202944:A:T 1824_1772_591_H->L 0.000199681 524 chr2:234202946:G:A 1824_1774_592_V->I 0.000199681 524 na12878 Variants: 524 chr2:234183368:A:G 1824_898_300_T->A 524 snyder Variants: 524 chr2:234183368:A:G 1824_898_300_T->A 525 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000085978_ENST00000347464 gene_Name: A16L1_HUMAN 525 list of pdbs: 525 4GDL pdb_description: 05-Dec-12 X-ray 2.880 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 525 4GDK pdb_description: 05-Dec-12 X-ray 2.700 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 525 Zimmer Variants: 525 chr2:234183368:A:G 1335_409_137_T->A 525 HGMD Variants: 525 chr2:234183368:A:G 1335_409_137_T->A 525 oneKG Variants: 525 chr2:234160481:C:T 1335_8_3_S->L 0.000199681 525 chr2:234160541:G:T 1335_68_23_R->L 0.000199681 525 chr2:234160550:G:A 1335_77_26_R->Q 0.000199681 525 chr2:234178662:G:A 1335_224_75_R->Q 0.00139776 525 chr2:234181613:G:T 1335_277_93_D->Y 0.000199681 525 chr2:234183368:A:G 1335_409_137_T->A 0.395966 525 chr2:234183377:G:A 1335_418_140_G->S 0.000199681 525 chr2:234186241:G:A 1335_493_165_V->M 0.000199681 525 chr2:234186309:A:T 1335_561_187_E->D 0.000199681 525 chr2:234189757:G:A 1335_578_193_C->Y 0.000199681 525 chr2:234198541:G:C 1335_756_252_K->N 0.000199681 525 chr2:234198557:G:A 1335_772_258_A->T 0.000199681 525 chr2:234201922:C:T 1335_1160_387_A->V 0.00499201 525 chr2:234201958:G:A 1335_1196_399_S->N 0.000199681 525 chr2:234202910:A:G 1335_1249_417_I->V 0.000199681 525 chr2:234202944:A:T 1335_1283_428_H->L 0.000199681 525 chr2:234202946:G:A 1335_1285_429_V->I 0.000199681 525 na12878 Variants: 525 chr2:234183368:A:G 1335_409_137_T->A 525 snyder Variants: 525 chr2:234183368:A:G 1335_409_137_T->A 526 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000085978_ENST00000373525 gene_Name: A16L1_HUMAN 526 list of pdbs: 526 4GDL pdb_description: 05-Dec-12 X-ray 2.880 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 526 4GDK pdb_description: 05-Dec-12 X-ray 2.700 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 526 Zimmer Variants: 526 chr2:234183368:A:G 1287_466_156_T->A 526 HGMD Variants: 526 chr2:234183368:A:G 1287_466_156_T->A 526 oneKG Variants: 526 chr2:234160481:C:T 1287_8_3_S->L 0.000199681 526 chr2:234160541:G:T 1287_68_23_R->L 0.000199681 526 chr2:234160550:G:A 1287_77_26_R->Q 0.000199681 526 chr2:234178662:G:A 1287_224_75_R->Q 0.00139776 526 chr2:234181613:G:T 1287_277_93_D->Y 0.000199681 526 chr2:234183368:A:G 1287_466_156_T->A 0.395966 526 chr2:234183377:G:A 1287_475_159_G->S 0.000199681 526 chr2:234186241:G:A 1287_550_184_V->M 0.000199681 526 chr2:234198541:G:C 1287_708_236_K->N 0.000199681 526 chr2:234198557:G:A 1287_724_242_A->T 0.000199681 526 chr2:234201922:C:T 1287_1112_371_A->V 0.00499201 526 chr2:234201958:G:A 1287_1148_383_S->N 0.000199681 526 chr2:234202910:A:G 1287_1201_401_I->V 0.000199681 526 chr2:234202944:A:T 1287_1235_412_H->L 0.000199681 526 chr2:234202946:G:A 1287_1237_413_V->I 0.000199681 526 na12878 Variants: 526 chr2:234183368:A:G 1287_466_156_T->A 526 snyder Variants: 526 chr2:234183368:A:G 1287_466_156_T->A 527 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000085978_ENST00000392020 gene_Name: A16L1_HUMAN 527 list of pdbs: 527 4GDL pdb_description: 05-Dec-12 X-ray 2.880 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 527 4GDK pdb_description: 05-Dec-12 X-ray 2.700 Crystal structure of human atg12~atg5 conjugate in complex w terminal fragment of atg16l1 527 Zimmer Variants: 527 chr2:234183368:A:G 1767_841_281_T->A;HUB=REG;GENE=ATG16L1;CDSS=2 527 HGMD Variants: 527 chr2:234183368:A:G 1767_841_281_T->A 527 oneKG Variants: 527 chr2:234160481:C:T 1767_8_3_S->L 0.000199681 527 chr2:234160541:G:T 1767_68_23_R->L 0.000199681 527 chr2:234160550:G:A 1767_77_26_R->Q 0.000199681 527 chr2:234173695:A:G 1767_547_183_T->A 0.000998403 527 chr2:234178662:G:A 1767_656_219_R->Q 0.00139776 527 chr2:234181613:G:T 1767_709_237_D->Y 0.000199681 527 chr2:234183368:A:G 1767_841_281_T->A 0.395966 527 chr2:234183377:G:A 1767_850_284_G->S 0.000199681 527 chr2:234186241:G:A 1767_925_309_V->M 0.000199681 527 chr2:234186309:A:T 1767_993_331_E->D 0.000199681 527 chr2:234189757:G:A 1767_1010_337_C->Y 0.000199681 527 chr2:234198541:G:C 1767_1188_396_K->N 0.000199681 527 chr2:234198557:G:A 1767_1204_402_A->T 0.000199681 527 chr2:234201922:C:T 1767_1592_531_A->V 0.00499201 527 chr2:234201958:G:A 1767_1628_543_S->N 0.000199681 527 chr2:234202910:A:G 1767_1681_561_I->V 0.000199681 527 chr2:234202944:A:T 1767_1715_572_H->L 0.000199681 527 chr2:234202946:G:A 1767_1717_573_V->I 0.000199681 527 na12878 Variants: 527 chr2:234183368:A:G 1767_841_281_T->A 527 snyder Variants: 527 chr2:234183368:A:G 1767_841_281_T->A 528 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115687_ENST00000234040 gene_Name: PASK_HUMAN 528 list of pdbs: 528 3DLS pdb_description: 26-Aug-08 X-ray 2.300 Crystal structure of human pas kinase bound to adp 528 1LL8 pdb_description: 09-Oct-02 NMR 20 Structure and interactions of pas kinase n-terminal pas domain: model for intramolecular kinase regulation 528 Zimmer Variants: 528 chr2:242046785:A:C 3972_3797_1266_F->C 528 chr2:242066156:C:T 3972_2174_725_G->D 528 chr2:242066789:A:G 3972_1541_514_L->S 528 HGMD Variants: 528 chr2:242046836:G:A 3972_3746_1249_P->L 528 chr2:242051838:C:T 3972_3350_1117_G->E 528 oneKG Variants: 528 chr2:242046783:G:A 3972_3799_1267_R->* 0.000399361 528 chr2:242072401:G:A 3972_1351_451_R->* 0.000998403 528 chr2:242045997:C:T 3972_3956_1319_R->H 0.00738818 528 chr2:242046007:C:T 3972_3946_1316_G->R 0.000599042 528 chr2:242046040:C:T 3972_3913_1305_E->K 0.000199681 528 chr2:242046049:C:T 3972_3904_1302_V->I 0.000199681 528 chr2:242046785:A:C 3972_3797_1266_F->C 0.322883 528 chr2:242046822:G:A 3972_3760_1254_P->S 0.000399361 528 chr2:242046860:G:A 3972_3722_1241_T->I 0.000199681 528 chr2:242047621:C:T 3972_3628_1210_V->M 0.0361422 528 chr2:242047704:G:A 3972_3545_1182_P->L 0.000399361 528 chr2:242051829:C:T 3972_3359_1120_R->H 0.000399361 528 chr2:242051838:C:T 3972_3350_1117_G->E 0.000199681 528 chr2:242054477:G:A 3972_3314_1105_A->V 0.000199681 528 chr2:242054750:A:C 3972_3151_1051_L->V 0.000399361 528 chr2:242054810:T:C 3972_3091_1031_K->E 0.000199681 528 chr2:242062152:T:C 3972_3067_1023_K->E 0.000199681 528 chr2:242062284:G:C 3972_2935_979_P->A 0.000199681 528 chr2:242063402:A:T 3972_2866_956_S->T 0.000199681 528 chr2:242063438:G:C 3972_2830_944_R->G 0.000199681 528 chr2:242063456:C:T 3972_2812_938_D->N 0.000199681 528 chr2:242063458:C:T 3972_2810_937_R->H 0.00319489 528 chr2:242063459:G:A 3972_2809_937_R->C 0.000599042 528 chr2:242063528:G:A 3972_2740_914_R->W 0.000199681 528 chr2:242065635:A:G 3972_2695_899_Y->H 0.0217652 528 chr2:242065644:C:T 3972_2686_896_G->R 0.000199681 528 chr2:242065698:C:T 3972_2632_878_V->M 0.000998403 528 chr2:242065704:C:T 3972_2626_876_V->M 0.000399361 528 chr2:242065754:C:T 3972_2576_859_C->Y 0.00139776 528 chr2:242065757:G:A 3972_2573_858_T->M 0.000199681 528 chr2:242065761:C:T 3972_2569_857_D->N 0.000199681 528 chr2:242065781:G:A 3972_2549_850_T->M 0.0275559 528 chr2:242065799:G:T 3972_2531_844_P->Q 0.0451278 528 chr2:242065814:C:T 3972_2516_839_S->N 0.000199681 528 chr2:242065848:C:A 3972_2482_828_V->F 0.000199681 528 chr2:242065944:C:T 3972_2386_796_E->K 0.00998403 528 chr2:242065986:C:G 3972_2344_782_G->R 0.0091853 528 chr2:242065991:T:A 3972_2339_780_D->V 0.000399361 528 chr2:242066042:G:A 3972_2288_763_T->M 0.00159744 528 chr2:242066156:C:T 3972_2174_725_G->D 0.0770767 528 chr2:242066165:A:G 3972_2165_722_L->P 0.000998403 528 chr2:242066166:G:A 3972_2164_722_L->F 0.000199681 528 chr2:242066174:G:A 3972_2156_719_A->V 0.000199681 528 chr2:242066201:C:T 3972_2129_710_G->D 0.000399361 528 chr2:242066204:G:A 3972_2126_709_T->M 0.000199681 528 chr2:242066250:C:T 3972_2080_694_V->M 0.0263578 528 chr2:242066276:G:C 3972_2054_685_T->R 0.00139776 528 chr2:242066279:G:A,C 3972_2051_684_P->L 0.000399361 528 chr2:242066279:G:A,C 3972_2051_684_P->R 0.000399361 528 chr2:242066291:G:A 3972_2039_680_A->V 0.000199681 528 chr2:242066310:C:T 3972_2020_674_A->T 0.000199681 528 chr2:242066489:C:T 3972_1841_614_G->E 0.000399361 528 chr2:242066688:C:A 3972_1642_548_D->Y 0.000399361 528 chr2:242066751:G:T 3972_1579_527_Q->K 0.000199681 528 chr2:242066754:C:T 3972_1576_526_G->R 0.000199681 528 chr2:242066789:A:G 3972_1541_514_L->S 0.076877 528 chr2:242066796:T:C 3972_1534_512_T->A 0.000399361 528 chr2:242072325:T:C 3972_1427_476_Q->R 0.000599042 528 chr2:242072389:G:A 3972_1363_455_R->W 0.0115815 528 chr2:242072410:C:T 3972_1342_448_V->I 0.000199681 528 chr2:242075321:G:A 3972_1271_424_P->L 0.000199681 528 chr2:242075330:G:A 3972_1262_421_T->I 0.000199681 528 chr2:242076448:C:T 3972_1108_370_G->S 0.000199681 528 chr2:242076498:G:A 3972_1058_353_P->L 0.000199681 528 chr2:242076549:C:T 3972_1007_336_R->Q 0.000599042 528 chr2:242076558:C:T 3972_998_333_S->N 0.000199681 528 chr2:242077439:C:G 3972_805_269_V->L 0.000399361 528 chr2:242077480:C:T 3972_764_255_S->N 0.000399361 528 chr2:242077496:C:T 3972_748_250_V->I 0.222444 528 chr2:242078094:G:A 3972_716_239_S->L 0.00419329 528 chr2:242078140:G:A 3972_670_224_R->C 0.000399361 528 chr2:242078148:C:T 3972_662_221_R->Q 0.000798722 528 chr2:242078160:A:C 3972_650_217_M->R 0.000199681 528 chr2:242078200:T:C 3972_610_204_I->V 0.000399361 528 chr2:242079365:C:T 3972_535_179_V->M 0.000199681 528 chr2:242079397:G:A 3972_503_168_T->M 0.000199681 528 chr2:242079401:G:T 3972_499_167_L->I 0.000199681 528 chr2:242079428:T:C 3972_472_158_S->G 0.000199681 528 chr2:242079959:T:C 3972_406_136_T->A 0.00179712 528 chr2:242079980:T:C 3972_385_129_N->D 0.000199681 528 chr2:242079992:C:T 3972_373_125_A->T 0.000199681 528 chr2:242080031:G:A 3972_334_112_R->W 0.000599042 528 chr2:242080067:C:T 3972_298_100_E->K 0.000199681 528 chr2:242080087:G:A 3972_278_93_P->L 0.000199681 528 chr2:242080091:C:G 3972_274_92_A->P 0.000599042 528 chr2:242080117:C:T 3972_248_83_C->Y 0.000199681 528 chr2:242080153:G:A 3972_212_71_S->F 0.00279553 528 chr2:242082263:G:A 3972_185_62_T->I 0.000399361 528 chr2:242082395:T:C 3972_53_18_Q->R 0.000199681 528 chr2:242082447:T:C 3972_1_1_M->V 0.000199681 528 na12878 Variants: 528 chr2:242046785:A:C 3972_3797_1266_F->C 528 chr2:242077496:C:T 3972_748_250_V->I 528 snyder Variants: 528 chr2:242046785:A:C 3972_3797_1266_F->C 528 chr2:242077496:C:T 3972_748_250_V->I 529 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115687_ENST00000405260 gene_Name: PASK_HUMAN 529 list of pdbs: 529 3DLS pdb_description: 26-Aug-08 X-ray 2.300 Crystal structure of human pas kinase bound to adp 529 1LL8 pdb_description: 09-Oct-02 NMR 20 Structure and interactions of pas kinase n-terminal pas domain: model for intramolecular kinase regulation 529 Zimmer Variants: 529 chr2:242046785:A:C 3972_3797_1266_F->C 529 chr2:242066156:C:T 3972_2174_725_G->D 529 chr2:242066789:A:G 3972_1541_514_L->S 529 HGMD Variants: 529 chr2:242046836:G:A 3972_3746_1249_P->L 529 chr2:242051838:C:T 3972_3350_1117_G->E 529 oneKG Variants: 529 chr2:242046783:G:A 3972_3799_1267_R->* 0.000399361 529 chr2:242072401:G:A 3972_1351_451_R->* 0.000998403 529 chr2:242045997:C:T 3972_3956_1319_R->H 0.00738818 529 chr2:242046007:C:T 3972_3946_1316_G->R 0.000599042 529 chr2:242046040:C:T 3972_3913_1305_E->K 0.000199681 529 chr2:242046049:C:T 3972_3904_1302_V->I 0.000199681 529 chr2:242046785:A:C 3972_3797_1266_F->C 0.322883 529 chr2:242046822:G:A 3972_3760_1254_P->S 0.000399361 529 chr2:242046860:G:A 3972_3722_1241_T->I 0.000199681 529 chr2:242047621:C:T 3972_3628_1210_V->M 0.0361422 529 chr2:242047704:G:A 3972_3545_1182_P->L 0.000399361 529 chr2:242051829:C:T 3972_3359_1120_R->H 0.000399361 529 chr2:242051838:C:T 3972_3350_1117_G->E 0.000199681 529 chr2:242054477:G:A 3972_3314_1105_A->V 0.000199681 529 chr2:242054750:A:C 3972_3151_1051_L->V 0.000399361 529 chr2:242054810:T:C 3972_3091_1031_K->E 0.000199681 529 chr2:242062152:T:C 3972_3067_1023_K->E 0.000199681 529 chr2:242062284:G:C 3972_2935_979_P->A 0.000199681 529 chr2:242063402:A:T 3972_2866_956_S->T 0.000199681 529 chr2:242063438:G:C 3972_2830_944_R->G 0.000199681 529 chr2:242063456:C:T 3972_2812_938_D->N 0.000199681 529 chr2:242063458:C:T 3972_2810_937_R->H 0.00319489 529 chr2:242063459:G:A 3972_2809_937_R->C 0.000599042 529 chr2:242063528:G:A 3972_2740_914_R->W 0.000199681 529 chr2:242065635:A:G 3972_2695_899_Y->H 0.0217652 529 chr2:242065644:C:T 3972_2686_896_G->R 0.000199681 529 chr2:242065698:C:T 3972_2632_878_V->M 0.000998403 529 chr2:242065704:C:T 3972_2626_876_V->M 0.000399361 529 chr2:242065754:C:T 3972_2576_859_C->Y 0.00139776 529 chr2:242065757:G:A 3972_2573_858_T->M 0.000199681 529 chr2:242065761:C:T 3972_2569_857_D->N 0.000199681 529 chr2:242065781:G:A 3972_2549_850_T->M 0.0275559 529 chr2:242065799:G:T 3972_2531_844_P->Q 0.0451278 529 chr2:242065814:C:T 3972_2516_839_S->N 0.000199681 529 chr2:242065848:C:A 3972_2482_828_V->F 0.000199681 529 chr2:242065944:C:T 3972_2386_796_E->K 0.00998403 529 chr2:242065986:C:G 3972_2344_782_G->R 0.0091853 529 chr2:242065991:T:A 3972_2339_780_D->V 0.000399361 529 chr2:242066042:G:A 3972_2288_763_T->M 0.00159744 529 chr2:242066156:C:T 3972_2174_725_G->D 0.0770767 529 chr2:242066165:A:G 3972_2165_722_L->P 0.000998403 529 chr2:242066166:G:A 3972_2164_722_L->F 0.000199681 529 chr2:242066174:G:A 3972_2156_719_A->V 0.000199681 529 chr2:242066201:C:T 3972_2129_710_G->D 0.000399361 529 chr2:242066204:G:A 3972_2126_709_T->M 0.000199681 529 chr2:242066250:C:T 3972_2080_694_V->M 0.0263578 529 chr2:242066276:G:C 3972_2054_685_T->R 0.00139776 529 chr2:242066279:G:A,C 3972_2051_684_P->L 0.000399361 529 chr2:242066279:G:A,C 3972_2051_684_P->R 0.000399361 529 chr2:242066291:G:A 3972_2039_680_A->V 0.000199681 529 chr2:242066310:C:T 3972_2020_674_A->T 0.000199681 529 chr2:242066489:C:T 3972_1841_614_G->E 0.000399361 529 chr2:242066688:C:A 3972_1642_548_D->Y 0.000399361 529 chr2:242066751:G:T 3972_1579_527_Q->K 0.000199681 529 chr2:242066754:C:T 3972_1576_526_G->R 0.000199681 529 chr2:242066789:A:G 3972_1541_514_L->S 0.076877 529 chr2:242066796:T:C 3972_1534_512_T->A 0.000399361 529 chr2:242072325:T:C 3972_1427_476_Q->R 0.000599042 529 chr2:242072389:G:A 3972_1363_455_R->W 0.0115815 529 chr2:242072410:C:T 3972_1342_448_V->I 0.000199681 529 chr2:242075321:G:A 3972_1271_424_P->L 0.000199681 529 chr2:242075330:G:A 3972_1262_421_T->I 0.000199681 529 chr2:242076448:C:T 3972_1108_370_G->S 0.000199681 529 chr2:242076498:G:A 3972_1058_353_P->L 0.000199681 529 chr2:242076549:C:T 3972_1007_336_R->Q 0.000599042 529 chr2:242076558:C:T 3972_998_333_S->N 0.000199681 529 chr2:242077439:C:G 3972_805_269_V->L 0.000399361 529 chr2:242077480:C:T 3972_764_255_S->N 0.000399361 529 chr2:242077496:C:T 3972_748_250_V->I 0.222444 529 chr2:242078094:G:A 3972_716_239_S->L 0.00419329 529 chr2:242078140:G:A 3972_670_224_R->C 0.000399361 529 chr2:242078148:C:T 3972_662_221_R->Q 0.000798722 529 chr2:242078160:A:C 3972_650_217_M->R 0.000199681 529 chr2:242078200:T:C 3972_610_204_I->V 0.000399361 529 chr2:242079365:C:T 3972_535_179_V->M 0.000199681 529 chr2:242079397:G:A 3972_503_168_T->M 0.000199681 529 chr2:242079401:G:T 3972_499_167_L->I 0.000199681 529 chr2:242079428:T:C 3972_472_158_S->G 0.000199681 529 chr2:242079959:T:C 3972_406_136_T->A 0.00179712 529 chr2:242079980:T:C 3972_385_129_N->D 0.000199681 529 chr2:242079992:C:T 3972_373_125_A->T 0.000199681 529 chr2:242080031:G:A 3972_334_112_R->W 0.000599042 529 chr2:242080067:C:T 3972_298_100_E->K 0.000199681 529 chr2:242080087:G:A 3972_278_93_P->L 0.000199681 529 chr2:242080091:C:G 3972_274_92_A->P 0.000599042 529 chr2:242080117:C:T 3972_248_83_C->Y 0.000199681 529 chr2:242080153:G:A 3972_212_71_S->F 0.00279553 529 chr2:242082263:G:A 3972_185_62_T->I 0.000399361 529 chr2:242082395:T:C 3972_53_18_Q->R 0.000199681 529 chr2:242082447:T:C 3972_1_1_M->V 0.000199681 529 na12878 Variants: 529 chr2:242046785:A:C 3972_3797_1266_F->C 529 chr2:242077496:C:T 3972_748_250_V->I 529 snyder Variants: 529 chr2:242046785:A:C 3972_3797_1266_F->C 529 chr2:242077496:C:T 3972_748_250_V->I 530 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000115687_ENST00000358649 gene_Name: PASK_HUMAN 530 list of pdbs: 530 3DLS pdb_description: 26-Aug-08 X-ray 2.300 Crystal structure of human pas kinase bound to adp 530 1LL8 pdb_description: 09-Oct-02 NMR 20 Structure and interactions of pas kinase n-terminal pas domain: model for intramolecular kinase regulation 530 Zimmer Variants: 530 chr2:242046785:A:C 3993_3818_1273_F->C 530 chr2:242066156:C:T 3993_2174_725_G->D 530 chr2:242066789:A:G 3993_1541_514_L->S 530 HGMD Variants: 530 chr2:242046836:G:A 3993_3767_1256_P->L 530 chr2:242051838:C:T 3993_3371_1124_G->E 530 oneKG Variants: 530 chr2:242046783:G:A 3993_3820_1274_R->* 0.000399361 530 chr2:242072401:G:A 3993_1351_451_R->* 0.000998403 530 chr2:242045997:C:T 3993_3977_1326_R->H 0.00738818 530 chr2:242046007:C:T 3993_3967_1323_G->R 0.000599042 530 chr2:242046040:C:T 3993_3934_1312_E->K 0.000199681 530 chr2:242046049:C:T 3993_3925_1309_V->I 0.000199681 530 chr2:242046785:A:C 3993_3818_1273_F->C 0.322883 530 chr2:242046822:G:A 3993_3781_1261_P->S 0.000399361 530 chr2:242046860:G:A 3993_3743_1248_T->I 0.000199681 530 chr2:242047621:C:T 3993_3649_1217_V->M 0.0361422 530 chr2:242047704:G:A 3993_3566_1189_P->L 0.000399361 530 chr2:242051829:C:T 3993_3380_1127_R->H 0.000399361 530 chr2:242051838:C:T 3993_3371_1124_G->E 0.000199681 530 chr2:242054438:C:T 3993_3353_1118_R->H 0.000199681 530 chr2:242054439:G:A 3993_3352_1118_R->C 0.000199681 530 chr2:242054441:C:G 3993_3350_1117_S->T 0.000599042 530 chr2:242054477:G:A 3993_3314_1105_A->V 0.000199681 530 chr2:242054750:A:C 3993_3151_1051_L->V 0.000399361 530 chr2:242054810:T:C 3993_3091_1031_K->E 0.000199681 530 chr2:242062152:T:C 3993_3067_1023_K->E 0.000199681 530 chr2:242062284:G:C 3993_2935_979_P->A 0.000199681 530 chr2:242063402:A:T 3993_2866_956_S->T 0.000199681 530 chr2:242063438:G:C 3993_2830_944_R->G 0.000199681 530 chr2:242063456:C:T 3993_2812_938_D->N 0.000199681 530 chr2:242063458:C:T 3993_2810_937_R->H 0.00319489 530 chr2:242063459:G:A 3993_2809_937_R->C 0.000599042 530 chr2:242063528:G:A 3993_2740_914_R->W 0.000199681 530 chr2:242065635:A:G 3993_2695_899_Y->H 0.0217652 530 chr2:242065644:C:T 3993_2686_896_G->R 0.000199681 530 chr2:242065698:C:T 3993_2632_878_V->M 0.000998403 530 chr2:242065704:C:T 3993_2626_876_V->M 0.000399361 530 chr2:242065754:C:T 3993_2576_859_C->Y 0.00139776 530 chr2:242065757:G:A 3993_2573_858_T->M 0.000199681 530 chr2:242065761:C:T 3993_2569_857_D->N 0.000199681 530 chr2:242065781:G:A 3993_2549_850_T->M 0.0275559 530 chr2:242065799:G:T 3993_2531_844_P->Q 0.0451278 530 chr2:242065814:C:T 3993_2516_839_S->N 0.000199681 530 chr2:242065848:C:A 3993_2482_828_V->F 0.000199681 530 chr2:242065944:C:T 3993_2386_796_E->K 0.00998403 530 chr2:242065986:C:G 3993_2344_782_G->R 0.0091853 530 chr2:242065991:T:A 3993_2339_780_D->V 0.000399361 530 chr2:242066042:G:A 3993_2288_763_T->M 0.00159744 530 chr2:242066156:C:T 3993_2174_725_G->D 0.0770767 530 chr2:242066165:A:G 3993_2165_722_L->P 0.000998403 530 chr2:242066166:G:A 3993_2164_722_L->F 0.000199681 530 chr2:242066174:G:A 3993_2156_719_A->V 0.000199681 530 chr2:242066201:C:T 3993_2129_710_G->D 0.000399361 530 chr2:242066204:G:A 3993_2126_709_T->M 0.000199681 530 chr2:242066250:C:T 3993_2080_694_V->M 0.0263578 530 chr2:242066276:G:C 3993_2054_685_T->R 0.00139776 530 chr2:242066279:G:A,C 3993_2051_684_P->L 0.000399361 530 chr2:242066279:G:A,C 3993_2051_684_P->R 0.000399361 530 chr2:242066291:G:A 3993_2039_680_A->V 0.000199681 530 chr2:242066310:C:T 3993_2020_674_A->T 0.000199681 530 chr2:242066489:C:T 3993_1841_614_G->E 0.000399361 530 chr2:242066688:C:A 3993_1642_548_D->Y 0.000399361 530 chr2:242066751:G:T 3993_1579_527_Q->K 0.000199681 530 chr2:242066754:C:T 3993_1576_526_G->R 0.000199681 530 chr2:242066789:A:G 3993_1541_514_L->S 0.076877 530 chr2:242066796:T:C 3993_1534_512_T->A 0.000399361 530 chr2:242072325:T:C 3993_1427_476_Q->R 0.000599042 530 chr2:242072389:G:A 3993_1363_455_R->W 0.0115815 530 chr2:242072410:C:T 3993_1342_448_V->I 0.000199681 530 chr2:242075321:G:A 3993_1271_424_P->L 0.000199681 530 chr2:242075330:G:A 3993_1262_421_T->I 0.000199681 530 chr2:242076448:C:T 3993_1108_370_G->S 0.000199681 530 chr2:242076498:G:A 3993_1058_353_P->L 0.000199681 530 chr2:242076549:C:T 3993_1007_336_R->Q 0.000599042 530 chr2:242076558:C:T 3993_998_333_S->N 0.000199681 530 chr2:242077439:C:G 3993_805_269_V->L 0.000399361 530 chr2:242077480:C:T 3993_764_255_S->N 0.000399361 530 chr2:242077496:C:T 3993_748_250_V->I 0.222444 530 chr2:242078094:G:A 3993_716_239_S->L 0.00419329 530 chr2:242078140:G:A 3993_670_224_R->C 0.000399361 530 chr2:242078148:C:T 3993_662_221_R->Q 0.000798722 530 chr2:242078160:A:C 3993_650_217_M->R 0.000199681 530 chr2:242078200:T:C 3993_610_204_I->V 0.000399361 530 chr2:242079365:C:T 3993_535_179_V->M 0.000199681 530 chr2:242079397:G:A 3993_503_168_T->M 0.000199681 530 chr2:242079401:G:T 3993_499_167_L->I 0.000199681 530 chr2:242079428:T:C 3993_472_158_S->G 0.000199681 530 chr2:242079959:T:C 3993_406_136_T->A 0.00179712 530 chr2:242079980:T:C 3993_385_129_N->D 0.000199681 530 chr2:242079992:C:T 3993_373_125_A->T 0.000199681 530 chr2:242080031:G:A 3993_334_112_R->W 0.000599042 530 chr2:242080067:C:T 3993_298_100_E->K 0.000199681 530 chr2:242080087:G:A 3993_278_93_P->L 0.000199681 530 chr2:242080091:C:G 3993_274_92_A->P 0.000599042 530 chr2:242080117:C:T 3993_248_83_C->Y 0.000199681 530 chr2:242080153:G:A 3993_212_71_S->F 0.00279553 530 chr2:242082263:G:A 3993_185_62_T->I 0.000399361 530 chr2:242082395:T:C 3993_53_18_Q->R 0.000199681 530 chr2:242082447:T:C 3993_1_1_M->V 0.000199681 530 na12878 Variants: 530 chr2:242046785:A:C 3993_3818_1273_F->C 530 chr2:242077496:C:T 3993_748_250_V->I 530 snyder Variants: 530 chr2:242046785:A:C 3993_3818_1273_F->C 530 chr2:242077496:C:T 3993_748_250_V->I 531 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162949_ENST00000295055 gene_Name: CAN13_HUMAN 531 list of pdbs: 531 2I7A pdb_description: 12-Sep-06 X-ray 1.800 Domain iv of human calpain 13 531 Zimmer Variants: 531 chr2:30975961:G:T 2010_1045_349_Q->K 531 chr2:30980940:C:T 2010_838_280_A->T 531 HGMD Variants: 531 chr2:30980940:C:T 2010_838_280_A->T 531 oneKG Variants: 531 chr2:30959398:G:A 2010_1693_565_R->* 0.000199681 531 chr2:30961125:G:T 2010_1629_543_C->* 0.000199681 531 chr2:30964806:G:A 2010_1504_502_Q->* 0.000199681 531 chr2:30980953:C:T 2010_825_275_W->* 0.000199681 531 chr2:30954214:A:G 2010_1979_660_M->T 0.000199681 531 chr2:30954232:C:T 2010_1961_654_G->E 0.000199681 531 chr2:30954257:G:A 2010_1936_646_R->C 0.000199681 531 chr2:30955346:G:A 2010_1885_629_P->S 0.000199681 531 chr2:30957326:A:G 2010_1787_596_I->T 0.08127 531 chr2:30959371:G:C 2010_1720_574_Q->E 0.00139776 531 chr2:30959385:C:T 2010_1706_569_R->H 0.000199681 531 chr2:30959421:C:T 2010_1670_557_R->Q 0.000199681 531 chr2:30964792:G:C 2010_1518_506_F->L 0.00599042 531 chr2:30965214:C:T 2010_1457_486_S->N 0.000199681 531 chr2:30966255:C:G 2010_1439_480_S->T 0.000399361 531 chr2:30966294:G:A 2010_1400_467_A->V 0.00399361 531 chr2:30966306:C:T 2010_1388_463_R->Q 0.000399361 531 chr2:30966345:T:A 2010_1349_450_H->L 0.00119808 531 chr2:30966353:C:T 2010_1341_447_M->I 0.000199681 531 chr2:30966367:G:A 2010_1327_443_R->C 0.000998403 531 chr2:30966371:G:C 2010_1323_441_F->L 0.00159744 531 chr2:30966372:A:C 2010_1322_441_F->C 0.00119808 531 chr2:30966387:C:A 2010_1307_436_S->I 0.000798722 531 chr2:30966444:C:T 2010_1250_417_R->Q 0.000199681 531 chr2:30966445:G:A 2010_1249_417_R->W 0.000199681 531 chr2:30974043:C:T 2010_1162_388_V->I 0.000399361 531 chr2:30974076:C:T 2010_1129_377_E->K 0.000199681 531 chr2:30974108:C:T 2010_1097_366_R->Q 0.00159744 531 chr2:30975961:G:T 2010_1045_349_Q->K 0.0565096 531 chr2:30975973:C:T 2010_1033_345_E->K 0.000199681 531 chr2:30977174:C:T 2010_923_308_R->Q 0.000399361 531 chr2:30977199:G:A 2010_898_300_R->W 0.000199681 531 chr2:30980940:C:T 2010_838_280_A->T 0.209864 531 chr2:30980943:C:T 2010_835_279_E->K 0.000399361 531 chr2:30980987:C:A 2010_791_264_G->V 0.000199681 531 chr2:30985977:G:A 2010_745_249_H->Y 0.0181709 531 chr2:30986003:G:A 2010_719_240_A->V 0.000199681 531 chr2:30986006:T:C 2010_716_239_Q->R 0.00119808 531 chr2:30987041:G:C 2010_656_219_A->G 0.00239617 531 chr2:30987059:A:C 2010_638_213_V->G 0.000199681 531 chr2:30987102:C:T 2010_595_199_V->M 0.000199681 531 chr2:30987153:C:T 2010_544_182_D->N 0.000199681 531 chr2:30993273:G:A 2010_430_144_R->C 0.000199681 531 chr2:30993285:C:T 2010_418_140_V->M 0.000199681 531 chr2:30998797:C:T 2010_386_129_R->Q 0.000399361 531 chr2:30998803:C:T 2010_380_127_R->H 0.000599042 531 chr2:31000435:G:A 2010_269_90_A->V 0.000199681 531 chr2:31000493:C:A 2010_211_71_G->C 0.000199681 531 chr2:31010025:C:T 2010_167_56_R->H 0.000199681 531 chr2:31010026:G:A 2010_166_56_R->C 0.000199681 531 chr2:31010032:C:T 2010_160_54_E->K 0.000199681 531 chr2:31010049:C:T 2010_143_48_G->D 0.000199681 531 chr2:31010091:G:A 2010_101_34_T->M 0.000199681 531 chr2:31010132:G:T 2010_60_20_D->E 0.00159744 531 chr2:31010187:G:A 2010_5_2_A->V 0.000399361 531 na12878 Variants: 531 chr2:30957326:A:G 2010_1787_596_I->T 531 chr2:30980940:C:T 2010_838_280_A->T 531 snyder Variants: 531 chr2:30980940:C:T 2010_838_280_A->T 532 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162949_ENST00000458085 gene_Name: CAN13_HUMAN 532 list of pdbs: 532 2I7A pdb_description: 12-Sep-06 X-ray 1.800 Domain iv of human calpain 13 532 Zimmer Variants: 532 chr2:30975961:G:T 1272_1045_349_Q->K;GENE=CAPN13;CDSS=2;DBRECUR=CAPN13 532 chr2:30980940:C:T 1272_838_280_A->T;GENE=CAPN13;CDSS=1;DBRECUR=CAPN13 532 HGMD Variants: 532 chr2:30980940:C:T 1272_838_280_A->T 532 oneKG Variants: 532 chr2:30980953:C:T 1272_825_275_W->* 0.000199681 532 chr2:30966387:C:A 1272_1263_421_K->N 0.000798722 532 chr2:30974043:C:T 1272_1162_388_V->I 0.000399361 532 chr2:30974076:C:T 1272_1129_377_E->K 0.000199681 532 chr2:30974108:C:T 1272_1097_366_R->Q 0.00159744 532 chr2:30975961:G:T 1272_1045_349_Q->K 0.0565096 532 chr2:30975973:C:T 1272_1033_345_E->K 0.000199681 532 chr2:30977174:C:T 1272_923_308_R->Q 0.000399361 532 chr2:30977199:G:A 1272_898_300_R->W 0.000199681 532 chr2:30980940:C:T 1272_838_280_A->T 0.209864 532 chr2:30980943:C:T 1272_835_279_E->K 0.000399361 532 chr2:30980987:C:A 1272_791_264_G->V 0.000199681 532 chr2:30985977:G:A 1272_745_249_H->Y 0.0181709 532 chr2:30986003:G:A 1272_719_240_A->V 0.000199681 532 chr2:30986006:T:C 1272_716_239_Q->R 0.00119808 532 chr2:30987041:G:C 1272_656_219_A->G 0.00239617 532 chr2:30987059:A:C 1272_638_213_V->G 0.000199681 532 chr2:30987102:C:T 1272_595_199_V->M 0.000199681 532 chr2:30987153:C:T 1272_544_182_D->N 0.000199681 532 chr2:30993273:G:A 1272_430_144_R->C 0.000199681 532 chr2:30993285:C:T 1272_418_140_V->M 0.000199681 532 chr2:30998797:C:T 1272_386_129_R->Q 0.000399361 532 chr2:30998803:C:T 1272_380_127_R->H 0.000599042 532 chr2:31000435:G:A 1272_269_90_A->V 0.000199681 532 chr2:31000493:C:A 1272_211_71_G->C 0.000199681 532 chr2:31010025:C:T 1272_167_56_R->H 0.000199681 532 chr2:31010026:G:A 1272_166_56_R->C 0.000199681 532 chr2:31010032:C:T 1272_160_54_E->K 0.000199681 532 chr2:31010049:C:T 1272_143_48_G->D 0.000199681 532 chr2:31010091:G:A 1272_101_34_T->M 0.000199681 532 chr2:31010132:G:T 1272_60_20_D->E 0.00159744 532 chr2:31010187:G:A 1272_5_2_A->V 0.000399361 532 na12878 Variants: 532 chr2:30980940:C:T 1272_838_280_A->T 532 snyder Variants: 532 chr2:30980940:C:T 1272_838_280_A->T 533 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049323_ENST00000404816 gene_Name: LTBP1_HUMAN 533 list of pdbs: 533 1KSQ pdb_description: 26-Aug-03 NMR 20 Nmr study of the third tb domain from latent transforming growth factor-beta binding protein-1 533 Zimmer Variants: 533 chr2:33500128:T:C 5166_2840_947_M->T 533 chr2:33585796:T:C 5166_4133_1378_V->A 533 HGMD Variants: 533 chr2:33572486:A:C 5166_3909_1303_E->D 533 oneKG Variants: 533 chr2:33172411:G:T 5166_20_7_R->M 0.00319489 533 chr2:33172515:G:A 5166_124_42_A->T 0.00139776 533 chr2:33172623:G:A 5166_232_78_G->R 0.000199681 533 chr2:33172659:C:G 5166_268_90_P->A 0.00159744 533 chr2:33172684:T:A 5166_293_98_L->H 0.000199681 533 chr2:33172690:C:A 5166_299_100_P->Q 0.000199681 533 chr2:33172701:C:T 5166_310_104_P->S 0.000199681 533 chr2:33172748:C:A 5166_357_119_H->Q 0.000199681 533 chr2:33172827:G:A 5166_436_146_E->K 0.00379393 533 chr2:33172854:C:A 5166_463_155_L->M 0.000199681 533 chr2:33172879:T:C 5166_488_163_L->P 0.00439297 533 chr2:33173971:A:T 5166_524_175_H->L 0.000199681 533 chr2:33245988:C:T 5166_578_193_P->L 0.000199681 533 chr2:33245996:C:G 5166_586_196_Q->E 0.000199681 533 chr2:33246122:G:A 5166_712_238_A->T 0.000199681 533 chr2:33246146:G:A 5166_736_246_E->K 0.00559105 533 chr2:33246217:G:A 5166_807_269_M->I 0.000199681 533 chr2:33246234:C:T 5166_824_275_P->L 0.000599042 533 chr2:33335666:C:T 5166_881_294_S->F 0.000199681 533 chr2:33335707:G:T 5166_922_308_V->L 0.000399361 533 chr2:33335708:T:C 5166_923_308_V->A 0.00499201 533 chr2:33411979:C:G 5166_1258_420_Q->E 0.000199681 533 chr2:33412036:G:A 5166_1315_439_V->M 0.000998403 533 chr2:33412048:T:C 5166_1327_443_Y->H 0.000199681 533 chr2:33412073:A:G 5166_1352_451_K->R 0.000199681 533 chr2:33412076:C:T 5166_1355_452_A->V 0.00139776 533 chr2:33413688:C:T 5166_1471_491_P->S 0.0 533 chr2:33413707:T:C 5166_1490_497_I->T 0.000199681 533 chr2:33413763:C:T 5166_1546_516_P->S 0.000199681 533 chr2:33413769:C:A 5166_1552_518_Q->K 0.000199681 533 chr2:33413843:G:C 5166_1626_542_Q->H 0.00139776 533 chr2:33413872:C:T 5166_1655_552_A->V 0.000199681 533 chr2:33413908:T:C 5166_1691_564_I->T 0.00359425 533 chr2:33447197:G:A 5166_1855_619_V->I 0.000599042 533 chr2:33468731:A:T 5166_1879_627_I->F 0.000199681 533 chr2:33468761:C:G 5166_1909_637_P->A 0.000199681 533 chr2:33468785:A:G 5166_1933_645_M->V 0.000199681 533 chr2:33468819:T:A 5166_1967_656_F->Y 0.000199681 533 chr2:33477800:G:A 5166_2056_686_G->R 0.000599042 533 chr2:33477876:G:A 5166_2132_711_G->D 0.000199681 533 chr2:33477903:C:G 5166_2159_720_P->R 0.000199681 533 chr2:33482431:G:A 5166_2248_750_V->I 0.0353435 533 chr2:33482459:C:T 5166_2276_759_P->L 0.000199681 533 chr2:33482567:C:T 5166_2384_795_A->V 0.000399361 533 chr2:33482572:C:G 5166_2389_797_P->A 0.000199681 533 chr2:33484666:C:G 5166_2407_803_P->A 0.00958466 533 chr2:33484669:C:T 5166_2410_804_P->S 0.000798722 533 chr2:33487820:A:T 5166_2450_817_K->I 0.000798722 533 chr2:33487861:A:G 5166_2491_831_T->A 0.0109824 533 chr2:33487873:C:A 5166_2503_835_H->N 0.00219649 533 chr2:33488369:G:A 5166_2527_843_E->K 0.000199681 533 chr2:33488405:C:T 5166_2563_855_P->S 0.000199681 533 chr2:33498802:A:G 5166_2697_899_I->M 0.00119808 533 chr2:33500068:C:T 5166_2780_927_S->F 0.000599042 533 chr2:33500091:G:A 5166_2803_935_E->K 0.000199681 533 chr2:33500105:G:T 5166_2817_939_L->F 0.000199681 533 chr2:33500128:T:C 5166_2840_947_M->T 0.000399361 533 chr2:33500143:G:A 5166_2855_952_G->D 0.000199681 533 chr2:33500871:T:C 5166_2873_958_V->A 0.000199681 533 chr2:33500928:G:C 5166_2930_977_G->A 0.000199681 533 chr2:33505123:A:G 5166_3010_1004_N->D 0.000998403 533 chr2:33505139:C:A 5166_3026_1009_P->Q 0.0091853 533 chr2:33505176:G:T 5166_3063_1021_Q->H 0.000199681 533 chr2:33505180:G:A 5166_3067_1023_V->I 0.000399361 533 chr2:33505202:G:A 5166_3089_1030_R->Q 0.00638978 533 chr2:33505211:A:G 5166_3098_1033_N->S 0.000199681 533 chr2:33505216:C:A 5166_3103_1035_Q->K 0.000199681 533 chr2:33518244:G:A 5166_3130_1044_E->K 0.000199681 533 chr2:33518253:G:A 5166_3139_1047_V->I 0.000199681 533 chr2:33518259:G:A 5166_3145_1049_A->T 0.000199681 533 chr2:33518295:A:G 5166_3181_1061_M->V 0.000199681 533 chr2:33518297:G:A 5166_3183_1061_M->I 0.000199681 533 chr2:33518328:C:T 5166_3214_1072_P->S 0.000599042 533 chr2:33518329:C:T 5166_3215_1072_P->L 0.000199681 533 chr2:33525521:T:C 5166_3239_1080_I->T 0.000199681 533 chr2:33525555:C:A 5166_3273_1091_N->K 0.000199681 533 chr2:33525571:A:G 5166_3289_1097_T->A 0.000399361 533 chr2:33525574:G:A 5166_3292_1098_E->K 0.000199681 533 chr2:33525631:C:A 5166_3349_1117_Q->K 0.000399361 533 chr2:33534551:A:G 5166_3532_1178_I->V 0.000199681 533 chr2:33534585:C:T 5166_3566_1189_P->L 0.000199681 533 chr2:33540273:G:A 5166_3667_1223_G->S 0.000998403 533 chr2:33540309:A:G 5166_3703_1235_I->V 0.00459265 533 chr2:33567915:A:T 5166_3741_1247_E->D 0.000199681 533 chr2:33567935:G:T 5166_3761_1254_C->F 0.000199681 533 chr2:33567946:G:A 5166_3772_1258_G->R 0.000199681 533 chr2:33567968:G:A 5166_3794_1265_G->D 0.000199681 533 chr2:33567971:C:T 5166_3797_1266_S->F 0.00399361 533 chr2:33567977:G:A 5166_3803_1268_R->H 0.000798722 533 chr2:33567992:A:G 5166_3818_1273_Q->R 0.000399361 533 chr2:33568012:G:A 5166_3838_1280_D->N 0.000199681 533 chr2:33572524:A:G 5166_3947_1316_E->G 0.000199681 533 chr2:33572565:C:T 5166_3988_1330_R->W 0.000199681 533 chr2:33572566:G:A 5166_3989_1330_R->Q 0.00239617 533 chr2:33585724:A:G 5166_4061_1354_N->S 0.000399361 533 chr2:33585729:G:A 5166_4066_1356_A->T 0.000199681 533 chr2:33585732:A:C 5166_4069_1357_S->R 0.000399361 533 chr2:33585760:A:G 5166_4097_1366_N->S 0.000199681 533 chr2:33585796:T:C 5166_4133_1378_V->A 0.0 533 chr2:33586555:T:G 5166_4243_1415_S->A 0.000199681 533 chr2:33588489:A:G 5166_4303_1435_I->V 0.000199681 533 chr2:33588519:C:T 5166_4333_1445_R->W 0.000199681 533 chr2:33589283:A:T 5166_4400_1467_D->V 0.000199681 533 chr2:33589351:A:G 5166_4468_1490_N->D 0.000199681 533 chr2:33589381:G:A 5166_4498_1500_D->N 0.000199681 533 chr2:33589421:A:G 5166_4538_1513_N->S 0.000199681 533 chr2:33590457:A:G 5166_4598_1533_E->G 0.000998403 533 chr2:33590462:G:A 5166_4603_1535_V->M 0.000199681 533 chr2:33590480:G:T 5166_4621_1541_V->L 0.000199681 533 chr2:33614284:C:T 5166_4745_1582_T->M 0.000199681 533 chr2:33614290:G:A 5166_4751_1584_R->H 0.000199681 533 chr2:33614292:C:T 5166_4753_1585_R->W 0.000199681 533 chr2:33614352:G:A 5166_4813_1605_D->N 0.000199681 533 chr2:33614354:T:A 5166_4815_1605_D->E 0.000199681 533 chr2:33622232:G:A 5166_4867_1623_E->K 0.000199681 533 chr2:33622269:G:T 5166_4904_1635_R->L 0.000199681 533 chr2:33623461:G:A 5166_5015_1672_R->Q 0.000199681 533 chr2:33623539:C:T 5166_5093_1698_P->L 0.000199681 533 chr2:33623566:C:T 5166_5120_1707_P->L 0.00139776 533 na12878 Variants: 533 chr2:33585796:T:C 5166_4133_1378_V->A 533 snyder Variants: 533 chr2:33585796:T:C 5166_4133_1378_V->A 534 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049323_ENST00000354476 gene_Name: LTBP1_HUMAN 534 list of pdbs: 534 1KSQ pdb_description: 26-Aug-03 NMR 20 Nmr study of the third tb domain from latent transforming growth factor-beta binding protein-1 534 Zimmer Variants: 534 chr2:33500128:T:C 5169_2843_948_M->T 534 chr2:33585796:T:C 5169_4136_1379_V->A 534 HGMD Variants: 534 chr2:33572486:A:C 5169_3912_1304_E->D 534 oneKG Variants: 534 chr2:33172411:G:T 5169_20_7_R->M 0.00319489 534 chr2:33172515:G:A 5169_124_42_A->T 0.00139776 534 chr2:33172623:G:A 5169_232_78_G->R 0.000199681 534 chr2:33172659:C:G 5169_268_90_P->A 0.00159744 534 chr2:33172684:T:A 5169_293_98_L->H 0.000199681 534 chr2:33172690:C:A 5169_299_100_P->Q 0.000199681 534 chr2:33172701:C:T 5169_310_104_P->S 0.000199681 534 chr2:33172748:C:A 5169_357_119_H->Q 0.000199681 534 chr2:33172827:G:A 5169_436_146_E->K 0.00379393 534 chr2:33172854:C:A 5169_463_155_L->M 0.000199681 534 chr2:33172879:T:C 5169_488_163_L->P 0.00439297 534 chr2:33173971:A:T 5169_524_175_H->L 0.000199681 534 chr2:33245988:C:T 5169_578_193_P->L 0.000199681 534 chr2:33245996:C:G 5169_586_196_Q->E 0.000199681 534 chr2:33246122:G:A 5169_712_238_A->T 0.000199681 534 chr2:33246146:G:A 5169_736_246_E->K 0.00559105 534 chr2:33246217:G:A 5169_807_269_M->I 0.000199681 534 chr2:33246234:C:T 5169_824_275_P->L 0.000599042 534 chr2:33335666:C:T 5169_881_294_S->F 0.000199681 534 chr2:33335707:G:T 5169_922_308_V->L 0.000399361 534 chr2:33335708:T:C 5169_923_308_V->A 0.00499201 534 chr2:33411979:C:G 5169_1258_420_Q->E 0.000199681 534 chr2:33412036:G:A 5169_1315_439_V->M 0.000998403 534 chr2:33412048:T:C 5169_1327_443_Y->H 0.000199681 534 chr2:33412073:A:G 5169_1352_451_K->R 0.000199681 534 chr2:33412076:C:T 5169_1355_452_A->V 0.00139776 534 chr2:33413688:C:T 5169_1471_491_P->S 0.0 534 chr2:33413707:T:C 5169_1490_497_I->T 0.000199681 534 chr2:33413763:C:T 5169_1546_516_P->S 0.000199681 534 chr2:33413769:C:A 5169_1552_518_Q->K 0.000199681 534 chr2:33413843:G:C 5169_1626_542_Q->H 0.00139776 534 chr2:33413872:C:T 5169_1655_552_A->V 0.000199681 534 chr2:33413908:T:C 5169_1691_564_I->T 0.00359425 534 chr2:33447197:G:A 5169_1855_619_V->I 0.000599042 534 chr2:33468731:A:T 5169_1879_627_I->F 0.000199681 534 chr2:33468761:C:G 5169_1909_637_P->A 0.000199681 534 chr2:33468785:A:G 5169_1933_645_M->V 0.000199681 534 chr2:33468819:T:A 5169_1967_656_F->Y 0.000199681 534 chr2:33477800:G:A 5169_2056_686_G->R 0.000599042 534 chr2:33477876:G:A 5169_2132_711_G->D 0.000199681 534 chr2:33477903:C:G 5169_2159_720_P->R 0.000199681 534 chr2:33482431:G:A 5169_2248_750_V->I 0.0353435 534 chr2:33482459:C:T 5169_2276_759_P->L 0.000199681 534 chr2:33482567:C:T 5169_2384_795_A->V 0.000399361 534 chr2:33482572:C:G 5169_2389_797_P->A 0.000199681 534 chr2:33484666:C:G 5169_2407_803_P->A 0.00958466 534 chr2:33484669:C:T 5169_2410_804_P->S 0.000798722 534 chr2:33487820:A:T 5169_2450_817_K->I 0.000798722 534 chr2:33487861:A:G 5169_2491_831_T->A 0.0109824 534 chr2:33487873:C:A 5169_2503_835_H->N 0.00219649 534 chr2:33488369:G:A 5169_2530_844_E->K 0.000199681 534 chr2:33488405:C:T 5169_2566_856_P->S 0.000199681 534 chr2:33498802:A:G 5169_2700_900_I->M 0.00119808 534 chr2:33500068:C:T 5169_2783_928_S->F 0.000599042 534 chr2:33500091:G:A 5169_2806_936_E->K 0.000199681 534 chr2:33500105:G:T 5169_2820_940_L->F 0.000199681 534 chr2:33500128:T:C 5169_2843_948_M->T 0.000399361 534 chr2:33500143:G:A 5169_2858_953_G->D 0.000199681 534 chr2:33500871:T:C 5169_2876_959_V->A 0.000199681 534 chr2:33500928:G:C 5169_2933_978_G->A 0.000199681 534 chr2:33505123:A:G 5169_3013_1005_N->D 0.000998403 534 chr2:33505139:C:A 5169_3029_1010_P->Q 0.0091853 534 chr2:33505176:G:T 5169_3066_1022_Q->H 0.000199681 534 chr2:33505180:G:A 5169_3070_1024_V->I 0.000399361 534 chr2:33505202:G:A 5169_3092_1031_R->Q 0.00638978 534 chr2:33505211:A:G 5169_3101_1034_N->S 0.000199681 534 chr2:33505216:C:A 5169_3106_1036_Q->K 0.000199681 534 chr2:33518244:G:A 5169_3133_1045_E->K 0.000199681 534 chr2:33518253:G:A 5169_3142_1048_V->I 0.000199681 534 chr2:33518259:G:A 5169_3148_1050_A->T 0.000199681 534 chr2:33518295:A:G 5169_3184_1062_M->V 0.000199681 534 chr2:33518297:G:A 5169_3186_1062_M->I 0.000199681 534 chr2:33518328:C:T 5169_3217_1073_P->S 0.000599042 534 chr2:33518329:C:T 5169_3218_1073_P->L 0.000199681 534 chr2:33525521:T:C 5169_3242_1081_I->T 0.000199681 534 chr2:33525555:C:A 5169_3276_1092_N->K 0.000199681 534 chr2:33525571:A:G 5169_3292_1098_T->A 0.000399361 534 chr2:33525574:G:A 5169_3295_1099_E->K 0.000199681 534 chr2:33525631:C:A 5169_3352_1118_Q->K 0.000399361 534 chr2:33534551:A:G 5169_3535_1179_I->V 0.000199681 534 chr2:33534585:C:T 5169_3569_1190_P->L 0.000199681 534 chr2:33540273:G:A 5169_3670_1224_G->S 0.000998403 534 chr2:33540309:A:G 5169_3706_1236_I->V 0.00459265 534 chr2:33567915:A:T 5169_3744_1248_E->D 0.000199681 534 chr2:33567935:G:T 5169_3764_1255_C->F 0.000199681 534 chr2:33567946:G:A 5169_3775_1259_G->R 0.000199681 534 chr2:33567968:G:A 5169_3797_1266_G->D 0.000199681 534 chr2:33567971:C:T 5169_3800_1267_S->F 0.00399361 534 chr2:33567977:G:A 5169_3806_1269_R->H 0.000798722 534 chr2:33567992:A:G 5169_3821_1274_Q->R 0.000399361 534 chr2:33568012:G:A 5169_3841_1281_D->N 0.000199681 534 chr2:33572524:A:G 5169_3950_1317_E->G 0.000199681 534 chr2:33572565:C:T 5169_3991_1331_R->W 0.000199681 534 chr2:33572566:G:A 5169_3992_1331_R->Q 0.00239617 534 chr2:33585724:A:G 5169_4064_1355_N->S 0.000399361 534 chr2:33585729:G:A 5169_4069_1357_A->T 0.000199681 534 chr2:33585732:A:C 5169_4072_1358_S->R 0.000399361 534 chr2:33585760:A:G 5169_4100_1367_N->S 0.000199681 534 chr2:33585796:T:C 5169_4136_1379_V->A 0.0 534 chr2:33586555:T:G 5169_4246_1416_S->A 0.000199681 534 chr2:33588489:A:G 5169_4306_1436_I->V 0.000199681 534 chr2:33588519:C:T 5169_4336_1446_R->W 0.000199681 534 chr2:33589283:A:T 5169_4403_1468_D->V 0.000199681 534 chr2:33589351:A:G 5169_4471_1491_N->D 0.000199681 534 chr2:33589381:G:A 5169_4501_1501_D->N 0.000199681 534 chr2:33589421:A:G 5169_4541_1514_N->S 0.000199681 534 chr2:33590457:A:G 5169_4601_1534_E->G 0.000998403 534 chr2:33590462:G:A 5169_4606_1536_V->M 0.000199681 534 chr2:33590480:G:T 5169_4624_1542_V->L 0.000199681 534 chr2:33614284:C:T 5169_4748_1583_T->M 0.000199681 534 chr2:33614290:G:A 5169_4754_1585_R->H 0.000199681 534 chr2:33614292:C:T 5169_4756_1586_R->W 0.000199681 534 chr2:33614352:G:A 5169_4816_1606_D->N 0.000199681 534 chr2:33614354:T:A 5169_4818_1606_D->E 0.000199681 534 chr2:33622232:G:A 5169_4870_1624_E->K 0.000199681 534 chr2:33622269:G:T 5169_4907_1636_R->L 0.000199681 534 chr2:33623461:G:A 5169_5018_1673_R->Q 0.000199681 534 chr2:33623539:C:T 5169_5096_1699_P->L 0.000199681 534 chr2:33623566:C:T 5169_5123_1708_P->L 0.00139776 534 na12878 Variants: 534 chr2:33585796:T:C 5169_4136_1379_V->A 534 snyder Variants: 534 chr2:33585796:T:C 5169_4136_1379_V->A 535 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049323_ENST00000390003 gene_Name: LTBP1_HUMAN 535 list of pdbs: 535 1KSQ pdb_description: 26-Aug-03 NMR 20 Nmr study of the third tb domain from latent transforming growth factor-beta binding protein-1 535 Zimmer Variants: 535 chr2:33500128:T:C 4191_1865_622_M->T 535 chr2:33585796:T:C 4191_3158_1053_V->A 535 HGMD Variants: 535 chr2:33572486:A:C 4191_2934_978_E->D 535 oneKG Variants: 535 chr2:33359820:A:G 4191_16_6_M->V 0.000199681 535 chr2:33359848:C:G 4191_44_15_P->R 0.000798722 535 chr2:33359851:C:T 4191_47_16_P->L 0.000199681 535 chr2:33359854:T:C 4191_50_17_L->P 0.000199681 535 chr2:33411979:C:G 4191_280_94_Q->E 0.000199681 535 chr2:33412036:G:A 4191_337_113_V->M 0.000998403 535 chr2:33412048:T:C 4191_349_117_Y->H 0.000199681 535 chr2:33412073:A:G 4191_374_125_K->R 0.000199681 535 chr2:33412076:C:T 4191_377_126_A->V 0.00139776 535 chr2:33413688:C:T 4191_493_165_P->S 0.0 535 chr2:33413707:T:C 4191_512_171_I->T 0.000199681 535 chr2:33413763:C:T 4191_568_190_P->S 0.000199681 535 chr2:33413769:C:A 4191_574_192_Q->K 0.000199681 535 chr2:33413843:G:C 4191_648_216_Q->H 0.00139776 535 chr2:33413872:C:T 4191_677_226_A->V 0.000199681 535 chr2:33413908:T:C 4191_713_238_I->T 0.00359425 535 chr2:33447197:G:A 4191_877_293_V->I 0.000599042 535 chr2:33468731:A:T 4191_901_301_I->F 0.000199681 535 chr2:33468761:C:G 4191_931_311_P->A 0.000199681 535 chr2:33468785:A:G 4191_955_319_M->V 0.000199681 535 chr2:33468819:T:A 4191_989_330_F->Y 0.000199681 535 chr2:33477800:G:A 4191_1078_360_G->R 0.000599042 535 chr2:33477876:G:A 4191_1154_385_G->D 0.000199681 535 chr2:33477903:C:G 4191_1181_394_P->R 0.000199681 535 chr2:33482431:G:A 4191_1270_424_V->I 0.0353435 535 chr2:33482459:C:T 4191_1298_433_P->L 0.000199681 535 chr2:33482567:C:T 4191_1406_469_A->V 0.000399361 535 chr2:33482572:C:G 4191_1411_471_P->A 0.000199681 535 chr2:33484666:C:G 4191_1429_477_P->A 0.00958466 535 chr2:33484669:C:T 4191_1432_478_P->S 0.000798722 535 chr2:33487820:A:T 4191_1472_491_K->I 0.000798722 535 chr2:33487861:A:G 4191_1513_505_T->A 0.0109824 535 chr2:33487873:C:A 4191_1525_509_H->N 0.00219649 535 chr2:33488369:G:A 4191_1552_518_E->K 0.000199681 535 chr2:33488405:C:T 4191_1588_530_P->S 0.000199681 535 chr2:33498802:A:G 4191_1722_574_I->M 0.00119808 535 chr2:33500068:C:T 4191_1805_602_S->F 0.000599042 535 chr2:33500091:G:A 4191_1828_610_E->K 0.000199681 535 chr2:33500105:G:T 4191_1842_614_L->F 0.000199681 535 chr2:33500128:T:C 4191_1865_622_M->T 0.000399361 535 chr2:33500143:G:A 4191_1880_627_G->D 0.000199681 535 chr2:33500871:T:C 4191_1898_633_V->A 0.000199681 535 chr2:33500928:G:C 4191_1955_652_G->A 0.000199681 535 chr2:33505123:A:G 4191_2035_679_N->D 0.000998403 535 chr2:33505139:C:A 4191_2051_684_P->Q 0.0091853 535 chr2:33505176:G:T 4191_2088_696_Q->H 0.000199681 535 chr2:33505180:G:A 4191_2092_698_V->I 0.000399361 535 chr2:33505202:G:A 4191_2114_705_R->Q 0.00638978 535 chr2:33505211:A:G 4191_2123_708_N->S 0.000199681 535 chr2:33505216:C:A 4191_2128_710_Q->K 0.000199681 535 chr2:33518244:G:A 4191_2155_719_E->K 0.000199681 535 chr2:33518253:G:A 4191_2164_722_V->I 0.000199681 535 chr2:33518259:G:A 4191_2170_724_A->T 0.000199681 535 chr2:33518295:A:G 4191_2206_736_M->V 0.000199681 535 chr2:33518297:G:A 4191_2208_736_M->I 0.000199681 535 chr2:33518328:C:T 4191_2239_747_P->S 0.000599042 535 chr2:33518329:C:T 4191_2240_747_P->L 0.000199681 535 chr2:33525521:T:C 4191_2264_755_I->T 0.000199681 535 chr2:33525555:C:A 4191_2298_766_N->K 0.000199681 535 chr2:33525571:A:G 4191_2314_772_T->A 0.000399361 535 chr2:33525574:G:A 4191_2317_773_E->K 0.000199681 535 chr2:33525631:C:A 4191_2374_792_Q->K 0.000399361 535 chr2:33534551:A:G 4191_2557_853_I->V 0.000199681 535 chr2:33534585:C:T 4191_2591_864_P->L 0.000199681 535 chr2:33540273:G:A 4191_2692_898_G->S 0.000998403 535 chr2:33540309:A:G 4191_2728_910_I->V 0.00459265 535 chr2:33567915:A:T 4191_2766_922_E->D 0.000199681 535 chr2:33567935:G:T 4191_2786_929_C->F 0.000199681 535 chr2:33567946:G:A 4191_2797_933_G->R 0.000199681 535 chr2:33567968:G:A 4191_2819_940_G->D 0.000199681 535 chr2:33567971:C:T 4191_2822_941_S->F 0.00399361 535 chr2:33567977:G:A 4191_2828_943_R->H 0.000798722 535 chr2:33567992:A:G 4191_2843_948_Q->R 0.000399361 535 chr2:33568012:G:A 4191_2863_955_D->N 0.000199681 535 chr2:33572524:A:G 4191_2972_991_E->G 0.000199681 535 chr2:33572565:C:T 4191_3013_1005_R->W 0.000199681 535 chr2:33572566:G:A 4191_3014_1005_R->Q 0.00239617 535 chr2:33585724:A:G 4191_3086_1029_N->S 0.000399361 535 chr2:33585729:G:A 4191_3091_1031_A->T 0.000199681 535 chr2:33585732:A:C 4191_3094_1032_S->R 0.000399361 535 chr2:33585760:A:G 4191_3122_1041_N->S 0.000199681 535 chr2:33585796:T:C 4191_3158_1053_V->A 0.0 535 chr2:33586555:T:G 4191_3268_1090_S->A 0.000199681 535 chr2:33588489:A:G 4191_3328_1110_I->V 0.000199681 535 chr2:33588519:C:T 4191_3358_1120_R->W 0.000199681 535 chr2:33589283:A:T 4191_3425_1142_D->V 0.000199681 535 chr2:33589351:A:G 4191_3493_1165_N->D 0.000199681 535 chr2:33589381:G:A 4191_3523_1175_D->N 0.000199681 535 chr2:33589421:A:G 4191_3563_1188_N->S 0.000199681 535 chr2:33590457:A:G 4191_3623_1208_E->G 0.000998403 535 chr2:33590462:G:A 4191_3628_1210_V->M 0.000199681 535 chr2:33590480:G:T 4191_3646_1216_V->L 0.000199681 535 chr2:33614284:C:T 4191_3770_1257_T->M 0.000199681 535 chr2:33614290:G:A 4191_3776_1259_R->H 0.000199681 535 chr2:33614292:C:T 4191_3778_1260_R->W 0.000199681 535 chr2:33614352:G:A 4191_3838_1280_D->N 0.000199681 535 chr2:33614354:T:A 4191_3840_1280_D->E 0.000199681 535 chr2:33622232:G:A 4191_3892_1298_E->K 0.000199681 535 chr2:33622269:G:T 4191_3929_1310_R->L 0.000199681 535 chr2:33623461:G:A 4191_4040_1347_R->Q 0.000199681 535 chr2:33623539:C:T 4191_4118_1373_P->L 0.000199681 535 chr2:33623566:C:T 4191_4145_1382_P->L 0.00139776 535 na12878 Variants: 535 chr2:33585796:T:C 4191_3158_1053_V->A 535 snyder Variants: 535 chr2:33585796:T:C 4191_3158_1053_V->A 536 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049323_ENST00000404525 gene_Name: LTBP1_HUMAN 536 list of pdbs: 536 1KSQ pdb_description: 26-Aug-03 NMR 20 Nmr study of the third tb domain from latent transforming growth factor-beta binding protein-1 536 Zimmer Variants: 536 chr2:33500128:T:C 4029_1703_568_M->T 536 chr2:33585796:T:C 4029_2996_999_V->A 536 HGMD Variants: 536 chr2:33572486:A:C 4029_2772_924_E->D 536 oneKG Variants: 536 chr2:33359820:A:G 4029_16_6_M->V 0.000199681 536 chr2:33359848:C:G 4029_44_15_P->R 0.000798722 536 chr2:33359851:C:T 4029_47_16_P->L 0.000199681 536 chr2:33359854:T:C 4029_50_17_L->P 0.000199681 536 chr2:33411979:C:G 4029_280_94_Q->E 0.000199681 536 chr2:33412036:G:A 4029_337_113_V->M 0.000998403 536 chr2:33412048:T:C 4029_349_117_Y->H 0.000199681 536 chr2:33412073:A:G 4029_374_125_K->R 0.000199681 536 chr2:33412076:C:T 4029_377_126_A->V 0.00139776 536 chr2:33413688:C:T 4029_493_165_P->S 0.0 536 chr2:33413707:T:C 4029_512_171_I->T 0.000199681 536 chr2:33413763:C:T 4029_568_190_P->S 0.000199681 536 chr2:33413769:C:A 4029_574_192_Q->K 0.000199681 536 chr2:33413843:G:C 4029_648_216_Q->H 0.00139776 536 chr2:33413872:C:T 4029_677_226_A->V 0.000199681 536 chr2:33413908:T:C 4029_713_238_I->T 0.00359425 536 chr2:33447197:G:A 4029_877_293_V->I 0.000599042 536 chr2:33468731:A:T 4029_901_301_I->F 0.000199681 536 chr2:33468761:C:G 4029_931_311_P->A 0.000199681 536 chr2:33468785:A:G 4029_955_319_M->V 0.000199681 536 chr2:33468819:T:A 4029_989_330_F->Y 0.000199681 536 chr2:33477800:G:A 4029_1078_360_G->R 0.000599042 536 chr2:33477876:G:A 4029_1154_385_G->D 0.000199681 536 chr2:33477903:C:G 4029_1181_394_P->R 0.000199681 536 chr2:33482567:C:T 4029_1247_416_A->V 0.000399361 536 chr2:33482572:C:G 4029_1252_418_P->A 0.000199681 536 chr2:33484666:C:G 4029_1270_424_P->A 0.00958466 536 chr2:33484669:C:T 4029_1273_425_P->S 0.000798722 536 chr2:33487820:A:T 4029_1313_438_K->I 0.000798722 536 chr2:33487861:A:G 4029_1354_452_T->A 0.0109824 536 chr2:33487873:C:A 4029_1366_456_H->N 0.00219649 536 chr2:33488369:G:A 4029_1390_464_E->K 0.000199681 536 chr2:33488405:C:T 4029_1426_476_P->S 0.000199681 536 chr2:33498802:A:G 4029_1560_520_I->M 0.00119808 536 chr2:33500068:C:T 4029_1643_548_S->F 0.000599042 536 chr2:33500091:G:A 4029_1666_556_E->K 0.000199681 536 chr2:33500105:G:T 4029_1680_560_L->F 0.000199681 536 chr2:33500128:T:C 4029_1703_568_M->T 0.000399361 536 chr2:33500143:G:A 4029_1718_573_G->D 0.000199681 536 chr2:33500871:T:C 4029_1736_579_V->A 0.000199681 536 chr2:33500928:G:C 4029_1793_598_G->A 0.000199681 536 chr2:33505123:A:G 4029_1873_625_N->D 0.000998403 536 chr2:33505139:C:A 4029_1889_630_P->Q 0.0091853 536 chr2:33505176:G:T 4029_1926_642_Q->H 0.000199681 536 chr2:33505180:G:A 4029_1930_644_V->I 0.000399361 536 chr2:33505202:G:A 4029_1952_651_R->Q 0.00638978 536 chr2:33505211:A:G 4029_1961_654_N->S 0.000199681 536 chr2:33505216:C:A 4029_1966_656_Q->K 0.000199681 536 chr2:33518244:G:A 4029_1993_665_E->K 0.000199681 536 chr2:33518253:G:A 4029_2002_668_V->I 0.000199681 536 chr2:33518259:G:A 4029_2008_670_A->T 0.000199681 536 chr2:33518295:A:G 4029_2044_682_M->V 0.000199681 536 chr2:33518297:G:A 4029_2046_682_M->I 0.000199681 536 chr2:33518328:C:T 4029_2077_693_P->S 0.000599042 536 chr2:33518329:C:T 4029_2078_693_P->L 0.000199681 536 chr2:33525521:T:C 4029_2102_701_I->T 0.000199681 536 chr2:33525555:C:A 4029_2136_712_N->K 0.000199681 536 chr2:33525571:A:G 4029_2152_718_T->A 0.000399361 536 chr2:33525574:G:A 4029_2155_719_E->K 0.000199681 536 chr2:33525631:C:A 4029_2212_738_Q->K 0.000399361 536 chr2:33534551:A:G 4029_2395_799_I->V 0.000199681 536 chr2:33534585:C:T 4029_2429_810_P->L 0.000199681 536 chr2:33540273:G:A 4029_2530_844_G->S 0.000998403 536 chr2:33540309:A:G 4029_2566_856_I->V 0.00459265 536 chr2:33567915:A:T 4029_2604_868_E->D 0.000199681 536 chr2:33567935:G:T 4029_2624_875_C->F 0.000199681 536 chr2:33567946:G:A 4029_2635_879_G->R 0.000199681 536 chr2:33567968:G:A 4029_2657_886_G->D 0.000199681 536 chr2:33567971:C:T 4029_2660_887_S->F 0.00399361 536 chr2:33567977:G:A 4029_2666_889_R->H 0.000798722 536 chr2:33567992:A:G 4029_2681_894_Q->R 0.000399361 536 chr2:33568012:G:A 4029_2701_901_D->N 0.000199681 536 chr2:33572524:A:G 4029_2810_937_E->G 0.000199681 536 chr2:33572565:C:T 4029_2851_951_R->W 0.000199681 536 chr2:33572566:G:A 4029_2852_951_R->Q 0.00239617 536 chr2:33585724:A:G 4029_2924_975_N->S 0.000399361 536 chr2:33585729:G:A 4029_2929_977_A->T 0.000199681 536 chr2:33585732:A:C 4029_2932_978_S->R 0.000399361 536 chr2:33585760:A:G 4029_2960_987_N->S 0.000199681 536 chr2:33585796:T:C 4029_2996_999_V->A 0.0 536 chr2:33586555:T:G 4029_3106_1036_S->A 0.000199681 536 chr2:33588489:A:G 4029_3166_1056_I->V 0.000199681 536 chr2:33588519:C:T 4029_3196_1066_R->W 0.000199681 536 chr2:33589283:A:T 4029_3263_1088_D->V 0.000199681 536 chr2:33589351:A:G 4029_3331_1111_N->D 0.000199681 536 chr2:33589381:G:A 4029_3361_1121_D->N 0.000199681 536 chr2:33589421:A:G 4029_3401_1134_N->S 0.000199681 536 chr2:33590457:A:G 4029_3461_1154_E->G 0.000998403 536 chr2:33590462:G:A 4029_3466_1156_V->M 0.000199681 536 chr2:33590480:G:T 4029_3484_1162_V->L 0.000199681 536 chr2:33614284:C:T 4029_3608_1203_T->M 0.000199681 536 chr2:33614290:G:A 4029_3614_1205_R->H 0.000199681 536 chr2:33614292:C:T 4029_3616_1206_R->W 0.000199681 536 chr2:33614352:G:A 4029_3676_1226_D->N 0.000199681 536 chr2:33614354:T:A 4029_3678_1226_D->E 0.000199681 536 chr2:33622232:G:A 4029_3730_1244_E->K 0.000199681 536 chr2:33622269:G:T 4029_3767_1256_R->L 0.000199681 536 chr2:33623461:G:A 4029_3878_1293_R->Q 0.000199681 536 chr2:33623539:C:T 4029_3956_1319_P->L 0.000199681 536 chr2:33623566:C:T 4029_3983_1328_P->L 0.00139776 536 na12878 Variants: 536 chr2:33585796:T:C 4029_2996_999_V->A 536 snyder Variants: 536 chr2:33585796:T:C 4029_2996_999_V->A 537 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000049323_ENST00000407925 gene_Name: LTBP1_HUMAN 537 list of pdbs: 537 1KSQ pdb_description: 26-Aug-03 NMR 20 Nmr study of the third tb domain from latent transforming growth factor-beta binding protein-1 537 Zimmer Variants: 537 chr2:33500128:T:C 4188_1862_621_M->T 537 chr2:33585796:T:C 4188_3155_1052_V->A 537 HGMD Variants: 537 chr2:33572486:A:C 4188_2931_977_E->D 537 oneKG Variants: 537 chr2:33359820:A:G 4188_16_6_M->V 0.000199681 537 chr2:33359848:C:G 4188_44_15_P->R 0.000798722 537 chr2:33359851:C:T 4188_47_16_P->L 0.000199681 537 chr2:33359854:T:C 4188_50_17_L->P 0.000199681 537 chr2:33411979:C:G 4188_280_94_Q->E 0.000199681 537 chr2:33412036:G:A 4188_337_113_V->M 0.000998403 537 chr2:33412048:T:C 4188_349_117_Y->H 0.000199681 537 chr2:33412073:A:G 4188_374_125_K->R 0.000199681 537 chr2:33412076:C:T 4188_377_126_A->V 0.00139776 537 chr2:33413688:C:T 4188_493_165_P->S 0.0 537 chr2:33413707:T:C 4188_512_171_I->T 0.000199681 537 chr2:33413763:C:T 4188_568_190_P->S 0.000199681 537 chr2:33413769:C:A 4188_574_192_Q->K 0.000199681 537 chr2:33413843:G:C 4188_648_216_Q->H 0.00139776 537 chr2:33413872:C:T 4188_677_226_A->V 0.000199681 537 chr2:33413908:T:C 4188_713_238_I->T 0.00359425 537 chr2:33447197:G:A 4188_877_293_V->I 0.000599042 537 chr2:33468731:A:T 4188_901_301_I->F 0.000199681 537 chr2:33468761:C:G 4188_931_311_P->A 0.000199681 537 chr2:33468785:A:G 4188_955_319_M->V 0.000199681 537 chr2:33468819:T:A 4188_989_330_F->Y 0.000199681 537 chr2:33477800:G:A 4188_1078_360_G->R 0.000599042 537 chr2:33477876:G:A 4188_1154_385_G->D 0.000199681 537 chr2:33477903:C:G 4188_1181_394_P->R 0.000199681 537 chr2:33482431:G:A 4188_1270_424_V->I 0.0353435 537 chr2:33482459:C:T 4188_1298_433_P->L 0.000199681 537 chr2:33482567:C:T 4188_1406_469_A->V 0.000399361 537 chr2:33482572:C:G 4188_1411_471_P->A 0.000199681 537 chr2:33484666:C:G 4188_1429_477_P->A 0.00958466 537 chr2:33484669:C:T 4188_1432_478_P->S 0.000798722 537 chr2:33487820:A:T 4188_1472_491_K->I 0.000798722 537 chr2:33487861:A:G 4188_1513_505_T->A 0.0109824 537 chr2:33487873:C:A 4188_1525_509_H->N 0.00219649 537 chr2:33488369:G:A 4188_1549_517_E->K 0.000199681 537 chr2:33488405:C:T 4188_1585_529_P->S 0.000199681 537 chr2:33498802:A:G 4188_1719_573_I->M 0.00119808 537 chr2:33500068:C:T 4188_1802_601_S->F 0.000599042 537 chr2:33500091:G:A 4188_1825_609_E->K 0.000199681 537 chr2:33500105:G:T 4188_1839_613_L->F 0.000199681 537 chr2:33500128:T:C 4188_1862_621_M->T 0.000399361 537 chr2:33500143:G:A 4188_1877_626_G->D 0.000199681 537 chr2:33500871:T:C 4188_1895_632_V->A 0.000199681 537 chr2:33500928:G:C 4188_1952_651_G->A 0.000199681 537 chr2:33505123:A:G 4188_2032_678_N->D 0.000998403 537 chr2:33505139:C:A 4188_2048_683_P->Q 0.0091853 537 chr2:33505176:G:T 4188_2085_695_Q->H 0.000199681 537 chr2:33505180:G:A 4188_2089_697_V->I 0.000399361 537 chr2:33505202:G:A 4188_2111_704_R->Q 0.00638978 537 chr2:33505211:A:G 4188_2120_707_N->S 0.000199681 537 chr2:33505216:C:A 4188_2125_709_Q->K 0.000199681 537 chr2:33518244:G:A 4188_2152_718_E->K 0.000199681 537 chr2:33518253:G:A 4188_2161_721_V->I 0.000199681 537 chr2:33518259:G:A 4188_2167_723_A->T 0.000199681 537 chr2:33518295:A:G 4188_2203_735_M->V 0.000199681 537 chr2:33518297:G:A 4188_2205_735_M->I 0.000199681 537 chr2:33518328:C:T 4188_2236_746_P->S 0.000599042 537 chr2:33518329:C:T 4188_2237_746_P->L 0.000199681 537 chr2:33525521:T:C 4188_2261_754_I->T 0.000199681 537 chr2:33525555:C:A 4188_2295_765_N->K 0.000199681 537 chr2:33525571:A:G 4188_2311_771_T->A 0.000399361 537 chr2:33525574:G:A 4188_2314_772_E->K 0.000199681 537 chr2:33525631:C:A 4188_2371_791_Q->K 0.000399361 537 chr2:33534551:A:G 4188_2554_852_I->V 0.000199681 537 chr2:33534585:C:T 4188_2588_863_P->L 0.000199681 537 chr2:33540273:G:A 4188_2689_897_G->S 0.000998403 537 chr2:33540309:A:G 4188_2725_909_I->V 0.00459265 537 chr2:33567915:A:T 4188_2763_921_E->D 0.000199681 537 chr2:33567935:G:T 4188_2783_928_C->F 0.000199681 537 chr2:33567946:G:A 4188_2794_932_G->R 0.000199681 537 chr2:33567968:G:A 4188_2816_939_G->D 0.000199681 537 chr2:33567971:C:T 4188_2819_940_S->F 0.00399361 537 chr2:33567977:G:A 4188_2825_942_R->H 0.000798722 537 chr2:33567992:A:G 4188_2840_947_Q->R 0.000399361 537 chr2:33568012:G:A 4188_2860_954_D->N 0.000199681 537 chr2:33572524:A:G 4188_2969_990_E->G 0.000199681 537 chr2:33572565:C:T 4188_3010_1004_R->W 0.000199681 537 chr2:33572566:G:A 4188_3011_1004_R->Q 0.00239617 537 chr2:33585724:A:G 4188_3083_1028_N->S 0.000399361 537 chr2:33585729:G:A 4188_3088_1030_A->T 0.000199681 537 chr2:33585732:A:C 4188_3091_1031_S->R 0.000399361 537 chr2:33585760:A:G 4188_3119_1040_N->S 0.000199681 537 chr2:33585796:T:C 4188_3155_1052_V->A 0.0 537 chr2:33586555:T:G 4188_3265_1089_S->A 0.000199681 537 chr2:33588489:A:G 4188_3325_1109_I->V 0.000199681 537 chr2:33588519:C:T 4188_3355_1119_R->W 0.000199681 537 chr2:33589283:A:T 4188_3422_1141_D->V 0.000199681 537 chr2:33589351:A:G 4188_3490_1164_N->D 0.000199681 537 chr2:33589381:G:A 4188_3520_1174_D->N 0.000199681 537 chr2:33589421:A:G 4188_3560_1187_N->S 0.000199681 537 chr2:33590457:A:G 4188_3620_1207_E->G 0.000998403 537 chr2:33590462:G:A 4188_3625_1209_V->M 0.000199681 537 chr2:33590480:G:T 4188_3643_1215_V->L 0.000199681 537 chr2:33614284:C:T 4188_3767_1256_T->M 0.000199681 537 chr2:33614290:G:A 4188_3773_1258_R->H 0.000199681 537 chr2:33614292:C:T 4188_3775_1259_R->W 0.000199681 537 chr2:33614352:G:A 4188_3835_1279_D->N 0.000199681 537 chr2:33614354:T:A 4188_3837_1279_D->E 0.000199681 537 chr2:33622232:G:A 4188_3889_1297_E->K 0.000199681 537 chr2:33622269:G:T 4188_3926_1309_R->L 0.000199681 537 chr2:33623461:G:A 4188_4037_1346_R->Q 0.000199681 537 chr2:33623539:C:T 4188_4115_1372_P->L 0.000199681 537 chr2:33623566:C:T 4188_4142_1381_P->L 0.00139776 537 na12878 Variants: 537 chr2:33585796:T:C 4188_3155_1052_V->A 537 snyder Variants: 537 chr2:33585796:T:C 4188_3155_1052_V->A 538 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138061_ENST00000260630 gene_Name: CP1B1_HUMAN 538 list of pdbs: 538 3PM0 pdb_description: 08-Dec-10 X-ray 2.700 Structural characterization of the complex between alpha- naphthoflavone and human cytochrome p450 1b1 (cyp1b1) 538 Zimmer Variants: 538 chr2:38298203:C:G 1632_1294_432_V->L 538 chr2:38302177:C:A 1632_355_119_A->S 538 chr2:38302390:G:C 1632_142_48_R->G 538 HGMD Variants: 538 chr2:38298167:G:A 1632_1330_444_R->* 538 chr2:38298195:C:T 1632_1302_434_W->* 538 chr2:38298413:G:A 1632_1084_362_Q->* 538 chr2:38298434:G:A 1632_1063_355_R->* 538 chr2:38301509:C:T 1632_1023_341_W->* 538 chr2:38301691:C:A 1632_841_281_E->* 538 chr2:38301692:G:T 1632_840_280_C->* 538 chr2:38301748:C:A 1632_784_262_E->* 538 chr2:38301790:G:A 1632_742_248_Q->* 538 chr2:38302015:C:A 1632_517_173_E->* 538 chr2:38302057:G:A 1632_475_159_Q->* 538 chr2:38302204:G:A 1632_328_110_Q->* 538 chr2:38302207:G:A 1632_325_109_Q->* 538 chr2:38302289:G:C 1632_243_81_Y->* 538 chr2:38302289:G:T 1632_243_81_Y->* 538 chr2:38302361:C:T 1632_171_57_W->* 538 chr2:38302408:G:A 1632_124_42_Q->* 538 chr2:38302423:G:A 1632_109_37_Q->* 538 chr2:38302477:G:A 1632_55_19_Q->* 538 chr2:38297908:T:C 1632_1589_530_D->G 538 chr2:38297929:C:T 1632_1568_523_R->K 538 chr2:38297929:C:G 1632_1568_523_R->T 538 chr2:38297942:T:C 1632_1555_519_N->D 538 chr2:38297953:G:A 1632_1544_515_S->L 538 chr2:38298001:T:C 1632_1496_499_E->G 538 chr2:38298005:T:C 1632_1492_498_N->D 538 chr2:38298037:A:G 1632_1460_487_L->P 538 chr2:38298043:G:A 1632_1454_485_S->F 538 chr2:38298073:A:G 1632_1424_475_L->P 538 chr2:38298085:A:C 1632_1412_471_I->S 538 chr2:38298088:C:T 1632_1409_470_C->Y 538 chr2:38298092:G:A 1632_1405_469_R->W 538 chr2:38298100:C:T 1632_1397_466_G->D 538 chr2:38298101:C:T 1632_1396_466_G->S 538 chr2:38298118:A:T 1632_1379_460_V->E 538 chr2:38298139:T:C 1632_1358_453_N->S 538 chr2:38298163:A:C 1632_1334_445_F->C 538 chr2:38298163:A:G 1632_1334_445_F->S 538 chr2:38298164:A:T 1632_1333_445_F->I 538 chr2:38298166:C:T 1632_1331_444_R->Q 538 chr2:38298169:G:C 1632_1328_443_A->G 538 chr2:38298172:G:C 1632_1325_442_P->R 538 chr2:38298175:T:C 1632_1322_441_D->G 538 chr2:38298187:G:A 1632_1310_437_P->L 538 chr2:38298188:G:C 1632_1309_437_P->A 538 chr2:38298197:A:G 1632_1300_434_W->R 538 chr2:38298203:C:G 1632_1294_432_V->L 538 chr2:38298207:G:C 1632_1290_430_D->E 538 chr2:38298230:T:A 1632_1267_423_N->Y 538 chr2:38298272:C:A 1632_1225_409_V->F 538 chr2:38298296:G:C 1632_1201_401_H->D 538 chr2:38298299:G:A 1632_1198_400_P->S 538 chr2:38298301:A:C 1632_1196_399_I->S 538 chr2:38298328:C:T 1632_1169_390_R->H 538 chr2:38298329:G:T 1632_1168_390_R->S 538 chr2:38298329:G:A 1632_1168_390_R->C 538 chr2:38298335:C:T 1632_1162_388_A->T 538 chr2:38298338:C:T 1632_1159_387_E->K 538 chr2:38298344:G:A 1632_1153_385_L->F 538 chr2:38298361:G:A 1632_1136_379_P->L 538 chr2:38298364:A:T 1632_1133_378_L->Q 538 chr2:38298375:G:C 1632_1122_374_D->E 538 chr2:38298377:C:T 1632_1120_374_D->N 538 chr2:38298394:C:T 1632_1103_368_R->H 538 chr2:38298394:C:A 1632_1103_368_R->L 538 chr2:38298395:G:A 1632_1102_368_R->C 538 chr2:38298404:C:A 1632_1093_365_G->W 538 chr2:38298407:C:T 1632_1090_364_V->M 538 chr2:38298409:A:T 1632_1088_363_V->D 538 chr2:38301499:G:A 1632_1033_345_L->F 538 chr2:38301512:C:A 1632_1020_340_Q->H 538 chr2:38301520:C:G 1632_1012_338_A->P 538 chr2:38301525:G:T 1632_1007_336_S->Y 538 chr2:38301540:C:A 1632_992_331_S->I 538 chr2:38301544:C:A 1632_988_330_A->S 538 chr2:38301546:C:T 1632_986_329_G->D 538 chr2:38301546:C:A 1632_986_329_G->V 538 chr2:38301547:C:T 1632_985_329_G->S 538 chr2:38301574:C:A 1632_958_320_V->L 538 chr2:38301576:T:C 1632_956_319_N->S 538 chr2:38301585:T:A 1632_947_316_D->V 538 chr2:38301649:C:T 1632_883_295_A->T 538 chr2:38301657:A:T 1632_875_292_M->K 538 chr2:38301660:T:C 1632_872_291_D->G 538 chr2:38301670:C:G 1632_862_288_A->P 538 chr2:38301673:C:T 1632_859_287_A->T 538 chr2:38301673:C:G 1632_859_287_A->P 538 chr2:38301687:C:T 1632_845_282_S->N 538 chr2:38301697:G:C 1632_835_279_H->D 538 chr2:38301749:G:T 1632_783_261_F->L 538 chr2:38301757:G:A 1632_775_259_R->C 538 chr2:38301776:G:T 1632_756_252_N->K 538 chr2:38301807:T:G 1632_725_242_D->A 538 chr2:38301817:T:G 1632_715_239_S->R 538 chr2:38301822:G:T 1632_710_237_A->E 538 chr2:38301828:A:G 1632_704_235_V->A 538 chr2:38301831:G:A 1632_701_234_T->M 538 chr2:38301838:C:G 1632_694_232_G->R 538 chr2:38301841:A:T 1632_691_231_F->I 538 chr2:38301844:C:T 1632_688_230_E->K 538 chr2:38301847:C:T 1632_685_229_E->K 538 chr2:38301888:C:A 1632_644_215_S->I 538 chr2:38301907:A:G 1632_625_209_C->R 538 chr2:38301924:T:C 1632_608_203_N->S 538 chr2:38301927:G:T 1632_605_202_A->D 538 chr2:38301940:C:T 1632_592_198_V->I 538 chr2:38301954:G:A 1632_578_193_P->L 538 chr2:38301957:T:A 1632_575_192_D->V 538 chr2:38301958:C:A 1632_574_192_D->Y 538 chr2:38301962:G:T 1632_570_190_F->L 538 chr2:38301964:A:G 1632_568_190_F->L 538 chr2:38301967:C:G 1632_565_189_A->P 538 chr2:38301999:A:T 1632_533_178_V->E 538 chr2:38302002:A:G 1632_530_177_L->P 538 chr2:38302002:A:C 1632_530_177_L->R 538 chr2:38302015:C:T 1632_517_173_E->K 538 chr2:38302029:C:T 1632_503_168_G->D 538 chr2:38302045:G:A 1632_487_163_R->C 538 chr2:38302099:G:A 1632_433_145_R->W 538 chr2:38302100:C:A 1632_432_144_Q->H 538 chr2:38302101:T:C 1632_431_144_Q->R 538 chr2:38302101:T:G 1632_431_144_Q->P 538 chr2:38302131:A:G 1632_401_134_F->S 538 chr2:38302137:A:C 1632_395_132_M->R 538 chr2:38302165:A:G 1632_367_123_F->L 538 chr2:38302177:C:A 1632_355_119_A->S 538 chr2:38302180:G:T 1632_352_118_P->T 538 chr2:38302180:G:A 1632_352_118_P->S 538 chr2:38302182:C:G 1632_350_117_R->P 538 chr2:38302183:G:A 1632_349_117_R->W 538 chr2:38302186:C:A 1632_346_116_D->Y 538 chr2:38302189:C:G 1632_343_115_A->P 538 chr2:38302213:G:C 1632_319_107_L->V 538 chr2:38302215:G:T 1632_317_106_A->D 538 chr2:38302248:A:G 1632_284_95_V->A 538 chr2:38302255:G:A 1632_277_93_P->S 538 chr2:38302266:A:G 1632_266_89_L->P 538 chr2:38302291:A:T 1632_241_81_Y->N 538 chr2:38302302:A:G 1632_230_77_L->P 538 chr2:38302350:C:T 1632_182_61_G->E 538 chr2:38302352:G:C 1632_180_60_I->M 538 chr2:38302361:C:G 1632_171_57_W->C 538 chr2:38302377:G:A 1632_155_52_P->L 538 chr2:38302390:G:C 1632_142_48_R->G 538 chr2:38302425:C:T 1632_107_36_G->D 538 chr2:38302449:G:C 1632_83_28_S->W 538 chr2:38302455:A:C 1632_77_26_L->R 538 chr2:38302461:A:C 1632_71_24_L->R 538 chr2:38302501:A:G 1632_31_11_W->R 538 chr2:38302530:A:G 1632_2_1_M->T 538 oneKG Variants: 538 chr2:38298167:G:A 1632_1330_444_R->* 0.000199681 538 chr2:38298080:C:T 1632_1417_473_E->K 0.000399361 538 chr2:38298139:T:C 1632_1358_453_N->S 0.0996406 538 chr2:38298169:G:C 1632_1328_443_A->G 0.0157748 538 chr2:38298182:T:C 1632_1315_439_N->D 0.000199681 538 chr2:38298187:G:A 1632_1310_437_P->L 0.000199681 538 chr2:38298203:C:G 1632_1294_432_V->L 0.385184 538 chr2:38298207:G:C 1632_1290_430_D->E 0.000199681 538 chr2:38298329:G:T 1632_1168_390_R->S 0.000199681 538 chr2:38298347:A:C 1632_1150_384_F->V 0.000199681 538 chr2:38298394:C:T 1632_1103_368_R->H 0.00419329 538 chr2:38298395:G:A 1632_1102_368_R->C 0.000199681 538 chr2:38301499:G:A 1632_1033_345_L->F 0.000199681 538 chr2:38301574:C:A,T 1632_958_320_V->L 0.000599042 538 chr2:38301574:C:A,T 1632_958_320_V->I 0.000599042 538 chr2:38301615:C:T 1632_917_306_G->E 0.000399361 538 chr2:38301673:C:T 1632_859_287_A->T 0.00119808 538 chr2:38301847:C:T 1632_685_229_E->K 0.0103834 538 chr2:38301888:C:A 1632_644_215_S->I 0.000199681 538 chr2:38301954:G:A 1632_578_193_P->L 0.000399361 538 chr2:38301960:A:C 1632_572_191_L->R 0.000199681 538 chr2:38302029:C:T 1632_503_168_G->D 0.000199681 538 chr2:38302055:C:A 1632_477_159_Q->H 0.000399361 538 chr2:38302126:G:T 1632_406_136_H->N 0.000199681 538 chr2:38302177:C:A 1632_355_119_A->S 0.36242 538 chr2:38302213:G:C 1632_319_107_L->V 0.000399361 538 chr2:38302291:A:T 1632_241_81_Y->N 0.00219649 538 chr2:38302352:G:C 1632_180_60_I->M 0.000199681 538 chr2:38302390:G:C 1632_142_48_R->G 0.3748 538 chr2:38302392:A:G 1632_140_47_L->P 0.000199681 538 chr2:38302497:G:A 1632_35_12_P->L 0.00179712 538 na12878 Variants: 538 chr2:38298203:C:G 1632_1294_432_V->L 538 chr2:38302177:C:A 1632_355_119_A->S 538 chr2:38302390:G:C 1632_142_48_R->G 538 snyder Variants: 538 chr2:38298203:C:G 1632_1294_432_V->L 538 chr2:38302177:C:A 1632_355_119_A->S 538 chr2:38302390:G:C 1632_142_48_R->G 539 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138061_ENST00000407341 gene_Name: CP1B1_HUMAN 539 list of pdbs: 539 3PM0 pdb_description: 08-Dec-10 X-ray 2.700 Structural characterization of the complex between alpha- naphthoflavone and human cytochrome p450 1b1 (cyp1b1) 539 Zimmer Variants: 539 chr2:38298203:C:G 1632_1294_432_V->L;GENE=CYP1B1;CDSS=2 539 chr2:38302177:C:A 1632_355_119_A->S;GENE=CYP1B1;CDSS=1 539 chr2:38302390:G:C 1632_142_48_R->G;GENE=CYP1B1;CDSS=1 539 HGMD Variants: 539 chr2:38298167:G:A 1632_1330_444_R->* 539 chr2:38298195:C:T 1632_1302_434_W->* 539 chr2:38298413:G:A 1632_1084_362_Q->* 539 chr2:38298434:G:A 1632_1063_355_R->* 539 chr2:38301509:C:T 1632_1023_341_W->* 539 chr2:38301691:C:A 1632_841_281_E->* 539 chr2:38301692:G:T 1632_840_280_C->* 539 chr2:38301748:C:A 1632_784_262_E->* 539 chr2:38301790:G:A 1632_742_248_Q->* 539 chr2:38302015:C:A 1632_517_173_E->* 539 chr2:38302057:G:A 1632_475_159_Q->* 539 chr2:38302204:G:A 1632_328_110_Q->* 539 chr2:38302207:G:A 1632_325_109_Q->* 539 chr2:38302289:G:C 1632_243_81_Y->* 539 chr2:38302289:G:T 1632_243_81_Y->* 539 chr2:38302361:C:T 1632_171_57_W->* 539 chr2:38302408:G:A 1632_124_42_Q->* 539 chr2:38302423:G:A 1632_109_37_Q->* 539 chr2:38302477:G:A 1632_55_19_Q->* 539 chr2:38297908:T:C 1632_1589_530_D->G 539 chr2:38297929:C:T 1632_1568_523_R->K 539 chr2:38297929:C:G 1632_1568_523_R->T 539 chr2:38297942:T:C 1632_1555_519_N->D 539 chr2:38297953:G:A 1632_1544_515_S->L 539 chr2:38298001:T:C 1632_1496_499_E->G 539 chr2:38298005:T:C 1632_1492_498_N->D 539 chr2:38298037:A:G 1632_1460_487_L->P 539 chr2:38298043:G:A 1632_1454_485_S->F 539 chr2:38298073:A:G 1632_1424_475_L->P 539 chr2:38298085:A:C 1632_1412_471_I->S 539 chr2:38298088:C:T 1632_1409_470_C->Y 539 chr2:38298092:G:A 1632_1405_469_R->W 539 chr2:38298100:C:T 1632_1397_466_G->D 539 chr2:38298101:C:T 1632_1396_466_G->S 539 chr2:38298118:A:T 1632_1379_460_V->E 539 chr2:38298139:T:C 1632_1358_453_N->S 539 chr2:38298163:A:C 1632_1334_445_F->C 539 chr2:38298163:A:G 1632_1334_445_F->S 539 chr2:38298164:A:T 1632_1333_445_F->I 539 chr2:38298166:C:T 1632_1331_444_R->Q 539 chr2:38298169:G:C 1632_1328_443_A->G 539 chr2:38298172:G:C 1632_1325_442_P->R 539 chr2:38298175:T:C 1632_1322_441_D->G 539 chr2:38298187:G:A 1632_1310_437_P->L 539 chr2:38298188:G:C 1632_1309_437_P->A 539 chr2:38298197:A:G 1632_1300_434_W->R 539 chr2:38298203:C:G 1632_1294_432_V->L 539 chr2:38298207:G:C 1632_1290_430_D->E 539 chr2:38298230:T:A 1632_1267_423_N->Y 539 chr2:38298272:C:A 1632_1225_409_V->F 539 chr2:38298296:G:C 1632_1201_401_H->D 539 chr2:38298299:G:A 1632_1198_400_P->S 539 chr2:38298301:A:C 1632_1196_399_I->S 539 chr2:38298328:C:T 1632_1169_390_R->H 539 chr2:38298329:G:T 1632_1168_390_R->S 539 chr2:38298329:G:A 1632_1168_390_R->C 539 chr2:38298335:C:T 1632_1162_388_A->T 539 chr2:38298338:C:T 1632_1159_387_E->K 539 chr2:38298344:G:A 1632_1153_385_L->F 539 chr2:38298361:G:A 1632_1136_379_P->L 539 chr2:38298364:A:T 1632_1133_378_L->Q 539 chr2:38298375:G:C 1632_1122_374_D->E 539 chr2:38298377:C:T 1632_1120_374_D->N 539 chr2:38298394:C:T 1632_1103_368_R->H 539 chr2:38298394:C:A 1632_1103_368_R->L 539 chr2:38298395:G:A 1632_1102_368_R->C 539 chr2:38298404:C:A 1632_1093_365_G->W 539 chr2:38298407:C:T 1632_1090_364_V->M 539 chr2:38298409:A:T 1632_1088_363_V->D 539 chr2:38301499:G:A 1632_1033_345_L->F 539 chr2:38301512:C:A 1632_1020_340_Q->H 539 chr2:38301520:C:G 1632_1012_338_A->P 539 chr2:38301525:G:T 1632_1007_336_S->Y 539 chr2:38301540:C:A 1632_992_331_S->I 539 chr2:38301544:C:A 1632_988_330_A->S 539 chr2:38301546:C:T 1632_986_329_G->D 539 chr2:38301546:C:A 1632_986_329_G->V 539 chr2:38301547:C:T 1632_985_329_G->S 539 chr2:38301574:C:A 1632_958_320_V->L 539 chr2:38301576:T:C 1632_956_319_N->S 539 chr2:38301585:T:A 1632_947_316_D->V 539 chr2:38301649:C:T 1632_883_295_A->T 539 chr2:38301657:A:T 1632_875_292_M->K 539 chr2:38301660:T:C 1632_872_291_D->G 539 chr2:38301670:C:G 1632_862_288_A->P 539 chr2:38301673:C:T 1632_859_287_A->T 539 chr2:38301673:C:G 1632_859_287_A->P 539 chr2:38301687:C:T 1632_845_282_S->N 539 chr2:38301697:G:C 1632_835_279_H->D 539 chr2:38301749:G:T 1632_783_261_F->L 539 chr2:38301757:G:A 1632_775_259_R->C 539 chr2:38301776:G:T 1632_756_252_N->K 539 chr2:38301807:T:G 1632_725_242_D->A 539 chr2:38301817:T:G 1632_715_239_S->R 539 chr2:38301822:G:T 1632_710_237_A->E 539 chr2:38301828:A:G 1632_704_235_V->A 539 chr2:38301831:G:A 1632_701_234_T->M 539 chr2:38301838:C:G 1632_694_232_G->R 539 chr2:38301841:A:T 1632_691_231_F->I 539 chr2:38301844:C:T 1632_688_230_E->K 539 chr2:38301847:C:T 1632_685_229_E->K 539 chr2:38301888:C:A 1632_644_215_S->I 539 chr2:38301907:A:G 1632_625_209_C->R 539 chr2:38301924:T:C 1632_608_203_N->S 539 chr2:38301927:G:T 1632_605_202_A->D 539 chr2:38301940:C:T 1632_592_198_V->I 539 chr2:38301954:G:A 1632_578_193_P->L 539 chr2:38301957:T:A 1632_575_192_D->V 539 chr2:38301958:C:A 1632_574_192_D->Y 539 chr2:38301962:G:T 1632_570_190_F->L 539 chr2:38301964:A:G 1632_568_190_F->L 539 chr2:38301967:C:G 1632_565_189_A->P 539 chr2:38301999:A:T 1632_533_178_V->E 539 chr2:38302002:A:G 1632_530_177_L->P 539 chr2:38302002:A:C 1632_530_177_L->R 539 chr2:38302015:C:T 1632_517_173_E->K 539 chr2:38302029:C:T 1632_503_168_G->D 539 chr2:38302045:G:A 1632_487_163_R->C 539 chr2:38302099:G:A 1632_433_145_R->W 539 chr2:38302100:C:A 1632_432_144_Q->H 539 chr2:38302101:T:C 1632_431_144_Q->R 539 chr2:38302101:T:G 1632_431_144_Q->P 539 chr2:38302131:A:G 1632_401_134_F->S 539 chr2:38302137:A:C 1632_395_132_M->R 539 chr2:38302165:A:G 1632_367_123_F->L 539 chr2:38302177:C:A 1632_355_119_A->S 539 chr2:38302180:G:T 1632_352_118_P->T 539 chr2:38302180:G:A 1632_352_118_P->S 539 chr2:38302182:C:G 1632_350_117_R->P 539 chr2:38302183:G:A 1632_349_117_R->W 539 chr2:38302186:C:A 1632_346_116_D->Y 539 chr2:38302189:C:G 1632_343_115_A->P 539 chr2:38302213:G:C 1632_319_107_L->V 539 chr2:38302215:G:T 1632_317_106_A->D 539 chr2:38302248:A:G 1632_284_95_V->A 539 chr2:38302255:G:A 1632_277_93_P->S 539 chr2:38302266:A:G 1632_266_89_L->P 539 chr2:38302291:A:T 1632_241_81_Y->N 539 chr2:38302302:A:G 1632_230_77_L->P 539 chr2:38302350:C:T 1632_182_61_G->E 539 chr2:38302352:G:C 1632_180_60_I->M 539 chr2:38302361:C:G 1632_171_57_W->C 539 chr2:38302377:G:A 1632_155_52_P->L 539 chr2:38302390:G:C 1632_142_48_R->G 539 chr2:38302425:C:T 1632_107_36_G->D 539 chr2:38302449:G:C 1632_83_28_S->W 539 chr2:38302455:A:C 1632_77_26_L->R 539 chr2:38302461:A:C 1632_71_24_L->R 539 chr2:38302501:A:G 1632_31_11_W->R 539 chr2:38302530:A:G 1632_2_1_M->T 539 oneKG Variants: 539 chr2:38298167:G:A 1632_1330_444_R->* 0.000199681 539 chr2:38298080:C:T 1632_1417_473_E->K 0.000399361 539 chr2:38298139:T:C 1632_1358_453_N->S 0.0996406 539 chr2:38298169:G:C 1632_1328_443_A->G 0.0157748 539 chr2:38298182:T:C 1632_1315_439_N->D 0.000199681 539 chr2:38298187:G:A 1632_1310_437_P->L 0.000199681 539 chr2:38298203:C:G 1632_1294_432_V->L 0.385184 539 chr2:38298207:G:C 1632_1290_430_D->E 0.000199681 539 chr2:38298329:G:T 1632_1168_390_R->S 0.000199681 539 chr2:38298347:A:C 1632_1150_384_F->V 0.000199681 539 chr2:38298394:C:T 1632_1103_368_R->H 0.00419329 539 chr2:38298395:G:A 1632_1102_368_R->C 0.000199681 539 chr2:38301499:G:A 1632_1033_345_L->F 0.000199681 539 chr2:38301574:C:A,T 1632_958_320_V->L,2 0.000599042 539 chr2:38301574:C:A,T 1632_958_320_V->I 0.000599042 539 chr2:38301615:C:T 1632_917_306_G->E 0.000399361 539 chr2:38301673:C:T 1632_859_287_A->T 0.00119808 539 chr2:38301847:C:T 1632_685_229_E->K 0.0103834 539 chr2:38301888:C:A 1632_644_215_S->I 0.000199681 539 chr2:38301954:G:A 1632_578_193_P->L 0.000399361 539 chr2:38301960:A:C 1632_572_191_L->R 0.000199681 539 chr2:38302029:C:T 1632_503_168_G->D 0.000199681 539 chr2:38302055:C:A 1632_477_159_Q->H 0.000399361 539 chr2:38302126:G:T 1632_406_136_H->N 0.000199681 539 chr2:38302177:C:A 1632_355_119_A->S 0.36242 539 chr2:38302213:G:C 1632_319_107_L->V 0.000399361 539 chr2:38302291:A:T 1632_241_81_Y->N 0.00219649 539 chr2:38302352:G:C 1632_180_60_I->M 0.000199681 539 chr2:38302390:G:C 1632_142_48_R->G 0.3748 539 chr2:38302392:A:G 1632_140_47_L->P 0.000199681 539 chr2:38302497:G:A 1632_35_12_P->L 0.00179712 539 na12878 Variants: 539 chr2:38298203:C:G 1632_1294_432_V->L 539 chr2:38302177:C:A 1632_355_119_A->S 539 chr2:38302390:G:C 1632_142_48_R->G 539 snyder Variants: 539 chr2:38298203:C:G 1632_1294_432_V->L 539 chr2:38302177:C:A 1632_355_119_A->S 539 chr2:38302390:G:C 1632_142_48_R->G 540 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169599_ENST00000410022 gene_Name: NFU1_HUMAN 540 list of pdbs: 540 2M5O pdb_description: 01-May-13 NMR 20 Solution nmr structure ctd domain of nfu1 iron-sulfur cluste homolog from homo sapiens, northeast structural genomics co (nesg) target hr2876c 540 2LTM pdb_description: 25-Jul-12 NMR 20 Solution nmr structure of nfu1 iron-sulfur cluster scaffold from homo sapiens, northeast structural genomics consortium target hr2876b 540 Zimmer Variants: 540 chr2:69659126:A:T 765_74_25_M->K 540 HGMD Variants: 540 chr2:69627587:C:A 765_629_210_C->F 540 chr2:69627594:C:A 765_622_208_G->C 540 chr2:69627651:C:T 765_565_189_G->R 540 chr2:69633154:C:T 765_545_182_R->Q 540 oneKG Variants: 540 chr2:69623391:G:A 765_752_251_A->V 0.000199681 540 chr2:69623407:A:G 765_736_246_S->P 0.000199681 540 chr2:69623416:C:T 765_727_243_D->N 0.000399361 540 chr2:69633167:C:T 765_532_178_D->N 0.000199681 540 chr2:69642427:T:A 765_374_125_N->I 0.000199681 540 chr2:69646684:T:C 765_355_119_I->V 0.000199681 540 chr2:69650730:G:A 765_286_96_R->C 0.0123802 540 chr2:69650838:A:G 765_178_60_F->L 0.000199681 540 chr2:69659049:C:A 765_151_51_A->S 0.0147764 540 chr2:69659126:A:T 765_74_25_M->K 0.317093 540 chr2:69664514:A:C 765_41_14_V->G 0.00259585 540 na12878 Variants: 540 chr2:69659126:A:T 765_74_25_M->K 540 snyder Variants: 540 chr2:69659126:A:T 765_74_25_M->K 541 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000169599_ENST00000303698 gene_Name: NFU1_HUMAN 541 list of pdbs: 541 2M5O pdb_description: 01-May-13 NMR 20 Solution nmr structure ctd domain of nfu1 iron-sulfur cluste homolog from homo sapiens, northeast structural genomics co (nesg) target hr2876c 541 2LTM pdb_description: 25-Jul-12 NMR 20 Solution nmr structure of nfu1 iron-sulfur cluster scaffold from homo sapiens, northeast structural genomics consortium target hr2876b 541 Zimmer Variants: 541 chr2:69659126:A:T 693_2_1_M->K 541 HGMD Variants: 541 chr2:69627587:C:A 693_557_186_C->F 541 chr2:69627594:C:A 693_550_184_G->C 541 chr2:69627651:C:T 693_493_165_G->R 541 chr2:69633154:C:T 693_473_158_R->Q 541 oneKG Variants: 541 chr2:69623391:G:A 693_680_227_A->V 0.000199681 541 chr2:69623407:A:G 693_664_222_S->P 0.000199681 541 chr2:69623416:C:T 693_655_219_D->N 0.000399361 541 chr2:69633167:C:T 693_460_154_D->N 0.000199681 541 chr2:69642427:T:A 693_302_101_N->I 0.000199681 541 chr2:69646684:T:C 693_283_95_I->V 0.000199681 541 chr2:69650730:G:A 693_214_72_R->C 0.0123802 541 chr2:69650838:A:G 693_106_36_F->L 0.000199681 541 chr2:69659049:C:A 693_79_27_A->S 0.0147764 541 chr2:69659126:A:T 693_2_1_M->K 0.317093 541 na12878 Variants: 541 chr2:69659126:A:T 693_2_1_M->K 541 snyder Variants: 541 chr2:69659126:A:T 693_2_1_M->K 542 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000116031_ENST00000410009 gene_Name: CLC4K_HUMAN 542 list of pdbs: 542 4AK8 pdb_description: 03-Apr-13 X-ray 1.400 Structure of f241l mutant of langerin carbohydrate recogniti domain. 542 3P7H pdb_description: 03-Nov-10 X-ray 2.300 Structure of the human langerin carbohydrate recognition dom complex with maltose 542 3P7G pdb_description: 03-Nov-10 X-ray 1.500 Structure of the human langerin carbohydrate recognition dom complex with mannose 542 3P7F pdb_description: 03-Nov-10 X-ray 2.500 Structure of the human langerin carbohydrate recognition dom 542 3P5I pdb_description: 08-Dec-10 X-ray 1.800 Structure of the carbohydrate-recognition domain of human la with 6-so4-gal-glcnac 542 3P5H pdb_description: 08-Dec-10 X-ray 1.610 Structure of the carbohydrate-recognition domain of human la with laminaritriose 542 3P5G pdb_description: 08-Dec-10 X-ray 1.600 Structure of the carbohydrate-recognition domain of human la with blood group b trisaccharide (gal alpha1-3(fuc alpha1-2 542 3P5F pdb_description: 08-Dec-10 X-ray 1.750 Structure of the carbohydrate-recognition domain of human la with man2 (man alpha1-2 man) 542 3P5E pdb_description: 08-Dec-10 X-ray 1.700 Structure of the carbohydrate-recognition domain of human la with man4 (man alpha1-3(man alpha1-6)man alpha1-6man) 542 3P5D pdb_description: 08-Dec-10 X-ray 1.800 Structure of the carbohydrate-recognition domain of human la with man5 (man alpha1-3(man alpha1-6)man alpha1-6)(man- alp 542 3KQG pdb_description: 23-Feb-10 X-ray 2.300 Trimeric structure of langerin 542 3C22 pdb_description: 27-Jan-09 X-ray 1.500 Crystal structure of the carbohydrate recognition domain of human langerin 542 Zimmer Variants: 542 chr2:71062648:G:A 987_164_55_A->V;GENE=CD207;CDSS=2 542 HGMD Variants: 542 chr2:71058230:T:A 987_938_313_K->I 542 chr2:71058270:C:G 987_898_300_A->P 542 chr2:71058306:T:C 987_862_288_N->D 542 chr2:71058878:A:G 987_790_264_W->R 542 oneKG Variants: 542 chr2:71058842:G:A 987_826_276_Q->* 0.000199681 542 chr2:71060783:G:A 987_559_187_R->* 0.000199681 542 chr2:71062837:G:A 987_70_24_R->* 0.00239617 542 chr2:71058206:C:T 987_962_321_R->Q 0.000199681 542 chr2:71058227:G:A 987_941_314_T->M 0.00119808 542 chr2:71058230:T:A 987_938_313_K->I 0.129593 542 chr2:71058270:C:G 987_898_300_A->P 0.00159744 542 chr2:71058271:C:A 987_897_299_K->N 0.000199681 542 chr2:71058291:C:T 987_877_293_E->K 0.000199681 542 chr2:71058306:T:C 987_862_288_N->D 0.129593 542 chr2:71058321:G:C 987_847_283_P->A 0.000199681 542 chr2:71058835:A:G 987_833_278_V->A 0.454673 542 chr2:71058878:A:G 987_790_264_W->R 0.000599042 542 chr2:71058931:G:A 987_737_246_A->V 0.000399361 542 chr2:71060111:G:A 987_637_213_P->S 0.0191693 542 chr2:71060139:C:G 987_609_203_K->N 0.000399361 542 chr2:71060777:T:C 987_565_189_N->D 0.000199681 542 chr2:71060782:C:T 987_560_187_R->Q 0.000199681 542 chr2:71060827:C:T 987_515_172_R->Q 0.00259585 542 chr2:71060936:G:C 987_406_136_Q->E 0.132188 542 chr2:71060939:C:T 987_403_135_A->T 0.000199681 542 chr2:71060983:C:T 987_359_120_R->H 0.00279553 542 chr2:71060986:A:G 987_356_119_V->A 0.000199681 542 chr2:71060987:C:T 987_355_119_V->M 0.000199681 542 chr2:71061001:T:A 987_341_114_E->V 0.139776 542 chr2:71061002:C:T 987_340_114_E->K 0.000199681 542 chr2:71061091:C:T 987_251_84_R->H 0.00379393 542 chr2:71061145:C:T 987_197_66_R->Q 0.0213658 542 chr2:71062648:G:A 987_164_55_A->V 0.284345 542 chr2:71062674:T:G 987_138_46_L->F 0.000199681 542 chr2:71062676:A:T 987_136_46_L->I 0.000199681 542 chr2:71062685:G:A 987_127_43_R->C 0.000199681 542 chr2:71062721:C:T 987_91_31_G->S 0.000199681 542 chr2:71062882:C:G 987_25_9_D->H 0.000199681 542 na12878 Variants: 542 chr2:71062648:G:A 987_164_55_A->V 542 chr2:71058835:A:G 987_833_278_V->A 542 chr2:71060936:G:C 987_406_136_Q->E 542 snyder Variants: 542 chr2:71062648:G:A 987_164_55_A->V 542 chr2:71060936:G:C 987_406_136_Q->E 543 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168878_ENST00000519937 gene_Name: PSPB_HUMAN 543 list of pdbs: 543 2JOU pdb_description: 10-Apr-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein-b (sp-b), in hexafluoroisopropanol (hfip) 543 2DWF pdb_description: 03-Jul-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein b (sp-b), in sodium dodecyl sulfate (sds) micelles 543 1SSZ pdb_description: 15-Jun-04 - - Conformational mapping of mini-b: an n-terminal/c-terminal construct of surfactant protein b using 13c-enhanced fourier transform infrared (ftir) spectroscopy 543 1RG4 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in organic solvent (hfip) 543 1RG3 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in sds micelles 543 1KMR pdb_description: 07-Aug-02 NMR 17 Solution nmr structure of surfactant protein b (11-25) (sp- b11-25) 543 1DFW pdb_description: 10-Dec-99 - - Conformational mapping of the n-terminal segment of surfactant protein b in lipid using 13c-enhanced fourier transform infrared spectroscopy (ftir) 543 Zimmer Variants: 543 chr2:85893741:G:A 1146_392_131_T->I;GENE=SFTPB;CDSS=2 543 HGMD Variants: 543 chr2:85890899:G:T 1146_744_248_C->* 543 chr2:85892827:T:A 1146_484_162_K->* 543 chr2:85894817:C:T 1146_180_60_W->* 543 chr2:85894880:C:T 1146_117_39_W->* 543 chr2:85890889:G:A 1146_754_252_R->C 543 chr2:85890937:G:A 1146_706_236_R->C 543 chr2:85890940:A:G 1146_703_235_C->R 543 chr2:85890961:C:T 1146_682_228_A->T 543 chr2:85892908:C:T 1146_403_135_G->S 543 chr2:85893741:G:A 1146_392_131_T->I 543 chr2:85893835:A:C 1146_298_100_C->G 543 chr2:85894852:A:G 1146_145_49_C->R 543 chr2:85895269:A:G 1146_38_13_L->P 543 oneKG Variants: 543 chr2:85888606:G:C 1146_1136_379_P->R 0.00199681 543 chr2:85888620:C:G 1146_1122_374_Q->H 0.000199681 543 chr2:85889207:G:A 1146_1028_343_T->M 0.000399361 543 chr2:85889225:T:A 1146_1010_337_Q->L 0.000199681 543 chr2:85890516:G:T 1146_955_319_Q->K 0.000399361 543 chr2:85890543:C:T 1146_928_310_G->R 0.000399361 543 chr2:85890571:G:C 1146_900_300_H->Q 0.000199681 543 chr2:85890583:G:T 1146_888_296_D->E 0.000199681 543 chr2:85890602:C:T 1146_869_290_G->E 0.000399361 543 chr2:85890608:G:A 1146_863_288_P->L 0.000399361 543 chr2:85890796:C:T 1146_847_283_A->T 0.00339457 543 chr2:85890817:G:A 1146_826_276_R->W 0.000199681 543 chr2:85890828:C:T 1146_815_272_R->H 0.00698882 543 chr2:85890864:G:A 1146_779_260_T->M 0.000199681 543 chr2:85890880:C:T 1146_763_255_V->I 0.000199681 543 chr2:85890966:G:A 1146_677_226_A->V 0.000599042 543 chr2:85892481:G:T 1146_603_201_F->L 0.000199681 543 chr2:85892763:C:T 1146_548_183_G->E 0.000599042 543 chr2:85892764:C:T 1146_547_183_G->R 0.00179712 543 chr2:85892782:C:T 1146_529_177_V->I 0.0121805 543 chr2:85892785:G:A 1146_526_176_L->F 0.00219649 543 chr2:85892817:C:T 1146_494_165_R->Q 0.000199681 543 chr2:85892818:G:A 1146_493_165_R->W 0.000199681 543 chr2:85892874:C:T 1146_437_146_R->Q 0.000399361 543 chr2:85892875:G:A 1146_436_146_R->W 0.000199681 543 chr2:85892889:C:T 1146_422_141_G->D 0.000199681 543 chr2:85892908:C:T 1146_403_135_G->S 0.000998403 543 chr2:85893741:G:A 1146_392_131_T->I 0.480032 543 chr2:85893757:A:C 1146_376_126_Y->D 0.000399361 543 chr2:85893760:C:T 1146_373_125_D->N 0.000199681 543 chr2:85893781:C:T 1146_352_118_D->N 0.000199681 543 chr2:85893836:C:G 1146_297_99_E->D 0.000199681 543 chr2:85893841:G:C 1146_292_98_Q->E 0.000199681 543 chr2:85893861:G:A 1146_272_91_T->M 0.000599042 543 chr2:85894249:C:A 1146_247_83_A->S 0.000199681 543 chr2:85894279:C:T 1146_217_73_E->K 0.000199681 543 chr2:85894807:C:T 1146_190_64_G->R 0.000599042 543 chr2:85894839:C:G 1146_158_53_G->A 0.000199681 543 chr2:85894923:C:A 1146_74_25_W->L 0.000199681 543 na12878 Variants: 543 chr2:85893741:G:A 1146_392_131_T->I 543 snyder Variants: 543 chr2:85893741:G:A 1146_392_131_T->I 544 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168878_ENST00000393822 gene_Name: 544 list of pdbs: 544 2JOU pdb_description: 10-Apr-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein-b (sp-b), in hexafluoroisopropanol (hfip) 544 2DWF pdb_description: 03-Jul-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein b (sp-b), in sodium dodecyl sulfate (sds) micelles 544 1SSZ pdb_description: 15-Jun-04 - - Conformational mapping of mini-b: an n-terminal/c-terminal construct of surfactant protein b using 13c-enhanced fourier transform infrared (ftir) spectroscopy 544 1RG4 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in organic solvent (hfip) 544 1RG3 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in sds micelles 544 1KMR pdb_description: 07-Aug-02 NMR 17 Solution nmr structure of surfactant protein b (11-25) (sp- b11-25) 544 1DFW pdb_description: 10-Dec-99 - - Conformational mapping of the n-terminal segment of surfactant protein b in lipid using 13c-enhanced fourier transform infrared spectroscopy (ftir) 544 Zimmer Variants: 544 chr2:85893741:G:A 1182_428_143_T->I 544 chr2:85895338:T:G 1182_5_2_H->P 544 HGMD Variants: 544 chr2:85890899:G:T 1182_780_260_C->* 544 chr2:85892827:T:A 1182_520_174_K->* 544 chr2:85894817:C:T 1182_216_72_W->* 544 chr2:85894880:C:T 1182_153_51_W->* 544 chr2:85890889:G:A 1182_790_264_R->C 544 chr2:85890937:G:A 1182_742_248_R->C 544 chr2:85890940:A:G 1182_739_247_C->R 544 chr2:85890961:C:T 1182_718_240_A->T 544 chr2:85892908:C:T 1182_439_147_G->S 544 chr2:85893741:G:A 1182_428_143_T->I 544 chr2:85893835:A:C 1182_334_112_C->G 544 chr2:85894852:A:G 1182_181_61_C->R 544 chr2:85895269:A:G 1182_74_25_L->P 544 chr2:85895338:T:G 1182_5_2_H->P 544 oneKG Variants: 544 chr2:85888606:G:C 1182_1172_391_P->R 0.00199681 544 chr2:85888620:C:G 1182_1158_386_Q->H 0.000199681 544 chr2:85889207:G:A 1182_1064_355_T->M 0.000399361 544 chr2:85889225:T:A 1182_1046_349_Q->L 0.000199681 544 chr2:85890516:G:T 1182_991_331_Q->K 0.000399361 544 chr2:85890543:C:T 1182_964_322_G->R 0.000399361 544 chr2:85890571:G:C 1182_936_312_H->Q 0.000199681 544 chr2:85890583:G:T 1182_924_308_D->E 0.000199681 544 chr2:85890602:C:T 1182_905_302_G->E 0.000399361 544 chr2:85890608:G:A 1182_899_300_P->L 0.000399361 544 chr2:85890796:C:T 1182_883_295_A->T 0.00339457 544 chr2:85890817:G:A 1182_862_288_R->W 0.000199681 544 chr2:85890828:C:T 1182_851_284_R->H 0.00698882 544 chr2:85890864:G:A 1182_815_272_T->M 0.000199681 544 chr2:85890880:C:T 1182_799_267_V->I 0.000199681 544 chr2:85890966:G:A 1182_713_238_A->V 0.000599042 544 chr2:85892481:G:T 1182_639_213_F->L 0.000199681 544 chr2:85892763:C:T 1182_584_195_G->E 0.000599042 544 chr2:85892764:C:T 1182_583_195_G->R 0.00179712 544 chr2:85892782:C:T 1182_565_189_V->I 0.0121805 544 chr2:85892785:G:A 1182_562_188_L->F 0.00219649 544 chr2:85892817:C:T 1182_530_177_R->Q 0.000199681 544 chr2:85892818:G:A 1182_529_177_R->W 0.000199681 544 chr2:85892874:C:T 1182_473_158_R->Q 0.000399361 544 chr2:85892875:G:A 1182_472_158_R->W 0.000199681 544 chr2:85892889:C:T 1182_458_153_G->D 0.000199681 544 chr2:85892908:C:T 1182_439_147_G->S 0.000998403 544 chr2:85893741:G:A 1182_428_143_T->I 0.480032 544 chr2:85893757:A:C 1182_412_138_Y->D 0.000399361 544 chr2:85893760:C:T 1182_409_137_D->N 0.000199681 544 chr2:85893781:C:T 1182_388_130_D->N 0.000199681 544 chr2:85893836:C:G 1182_333_111_E->D 0.000199681 544 chr2:85893841:G:C 1182_328_110_Q->E 0.000199681 544 chr2:85893861:G:A 1182_308_103_T->M 0.000599042 544 chr2:85894249:C:A 1182_283_95_A->S 0.000199681 544 chr2:85894279:C:T 1182_253_85_E->K 0.000199681 544 chr2:85894807:C:T 1182_226_76_G->R 0.000599042 544 chr2:85894839:C:G 1182_194_65_G->A 0.000199681 544 chr2:85894923:C:A 1182_110_37_W->L 0.000199681 544 chr2:85895338:T:G 1182_5_2_H->P 0.41853 544 na12878 Variants: 544 chr2:85893741:G:A 1182_428_143_T->I 544 chr2:85895338:T:G 1182_5_2_H->P 544 snyder Variants: 544 chr2:85893741:G:A 1182_428_143_T->I 545 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168878_ENST00000342375 gene_Name: PSPB_HUMAN 545 list of pdbs: 545 2JOU pdb_description: 10-Apr-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein-b (sp-b), in hexafluoroisopropanol (hfip) 545 2DWF pdb_description: 03-Jul-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein b (sp-b), in sodium dodecyl sulfate (sds) micelles 545 1SSZ pdb_description: 15-Jun-04 - - Conformational mapping of mini-b: an n-terminal/c-terminal construct of surfactant protein b using 13c-enhanced fourier transform infrared (ftir) spectroscopy 545 1RG4 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in organic solvent (hfip) 545 1RG3 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in sds micelles 545 1KMR pdb_description: 07-Aug-02 NMR 17 Solution nmr structure of surfactant protein b (11-25) (sp- b11-25) 545 1DFW pdb_description: 10-Dec-99 - - Conformational mapping of the n-terminal segment of surfactant protein b in lipid using 13c-enhanced fourier transform infrared spectroscopy (ftir) 545 Zimmer Variants: 545 chr2:85893741:G:A 1146_392_131_T->I 545 HGMD Variants: 545 chr2:85890899:G:T 1146_744_248_C->* 545 chr2:85892827:T:A 1146_484_162_K->* 545 chr2:85894817:C:T 1146_180_60_W->* 545 chr2:85894880:C:T 1146_117_39_W->* 545 chr2:85890889:G:A 1146_754_252_R->C 545 chr2:85890937:G:A 1146_706_236_R->C 545 chr2:85890940:A:G 1146_703_235_C->R 545 chr2:85890961:C:T 1146_682_228_A->T 545 chr2:85892908:C:T 1146_403_135_G->S 545 chr2:85893741:G:A 1146_392_131_T->I 545 chr2:85893835:A:C 1146_298_100_C->G 545 chr2:85894852:A:G 1146_145_49_C->R 545 chr2:85895269:A:G 1146_38_13_L->P 545 oneKG Variants: 545 chr2:85888606:G:C 1146_1136_379_P->R 0.00199681 545 chr2:85888620:C:G 1146_1122_374_Q->H 0.000199681 545 chr2:85889207:G:A 1146_1028_343_T->M 0.000399361 545 chr2:85889225:T:A 1146_1010_337_Q->L 0.000199681 545 chr2:85890516:G:T 1146_955_319_Q->K 0.000399361 545 chr2:85890543:C:T 1146_928_310_G->R 0.000399361 545 chr2:85890571:G:C 1146_900_300_H->Q 0.000199681 545 chr2:85890583:G:T 1146_888_296_D->E 0.000199681 545 chr2:85890602:C:T 1146_869_290_G->E 0.000399361 545 chr2:85890608:G:A 1146_863_288_P->L 0.000399361 545 chr2:85890796:C:T 1146_847_283_A->T 0.00339457 545 chr2:85890817:G:A 1146_826_276_R->W 0.000199681 545 chr2:85890828:C:T 1146_815_272_R->H 0.00698882 545 chr2:85890864:G:A 1146_779_260_T->M 0.000199681 545 chr2:85890880:C:T 1146_763_255_V->I 0.000199681 545 chr2:85890966:G:A 1146_677_226_A->V 0.000599042 545 chr2:85892481:G:T 1146_603_201_F->L 0.000199681 545 chr2:85892763:C:T 1146_548_183_G->E 0.000599042 545 chr2:85892764:C:T 1146_547_183_G->R 0.00179712 545 chr2:85892782:C:T 1146_529_177_V->I 0.0121805 545 chr2:85892785:G:A 1146_526_176_L->F 0.00219649 545 chr2:85892817:C:T 1146_494_165_R->Q 0.000199681 545 chr2:85892818:G:A 1146_493_165_R->W 0.000199681 545 chr2:85892874:C:T 1146_437_146_R->Q 0.000399361 545 chr2:85892875:G:A 1146_436_146_R->W 0.000199681 545 chr2:85892889:C:T 1146_422_141_G->D 0.000199681 545 chr2:85892908:C:T 1146_403_135_G->S 0.000998403 545 chr2:85893741:G:A 1146_392_131_T->I 0.480032 545 chr2:85893757:A:C 1146_376_126_Y->D 0.000399361 545 chr2:85893760:C:T 1146_373_125_D->N 0.000199681 545 chr2:85893781:C:T 1146_352_118_D->N 0.000199681 545 chr2:85893836:C:G 1146_297_99_E->D 0.000199681 545 chr2:85893841:G:C 1146_292_98_Q->E 0.000199681 545 chr2:85893861:G:A 1146_272_91_T->M 0.000599042 545 chr2:85894249:C:A 1146_247_83_A->S 0.000199681 545 chr2:85894279:C:T 1146_217_73_E->K 0.000199681 545 chr2:85894807:C:T 1146_190_64_G->R 0.000599042 545 chr2:85894839:C:G 1146_158_53_G->A 0.000199681 545 chr2:85894923:C:A 1146_74_25_W->L 0.000199681 545 na12878 Variants: 545 chr2:85893741:G:A 1146_392_131_T->I 545 snyder Variants: 545 chr2:85893741:G:A 1146_392_131_T->I 546 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168878_ENST00000409383 gene_Name: 546 list of pdbs: 546 2JOU pdb_description: 10-Apr-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein-b (sp-b), in hexafluoroisopropanol (hfip) 546 2DWF pdb_description: 03-Jul-07 NMR 15 Nmr structure of mini-b, an n-terminal- c-terminal construct from human surfactant protein b (sp-b), in sodium dodecyl sulfate (sds) micelles 546 1SSZ pdb_description: 15-Jun-04 - - Conformational mapping of mini-b: an n-terminal/c-terminal construct of surfactant protein b using 13c-enhanced fourier transform infrared (ftir) spectroscopy 546 1RG4 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in organic solvent (hfip) 546 1RG3 pdb_description: 28-Sep-04 NMR 10 Sp-b c-terminal peptide in sds micelles 546 1KMR pdb_description: 07-Aug-02 NMR 17 Solution nmr structure of surfactant protein b (11-25) (sp- b11-25) 546 1DFW pdb_description: 10-Dec-99 - - Conformational mapping of the n-terminal segment of surfactant protein b in lipid using 13c-enhanced fourier transform infrared spectroscopy (ftir) 546 Zimmer Variants: 546 chr2:85893741:G:A 1182_428_143_T->I 546 chr2:85895338:T:G 1182_5_2_H->P;GENE=SFTPB;CDSS=2 546 HGMD Variants: 546 chr2:85890899:G:T 1182_780_260_C->* 546 chr2:85892827:T:A 1182_520_174_K->* 546 chr2:85894817:C:T 1182_216_72_W->* 546 chr2:85894880:C:T 1182_153_51_W->* 546 chr2:85890889:G:A 1182_790_264_R->C 546 chr2:85890937:G:A 1182_742_248_R->C 546 chr2:85890940:A:G 1182_739_247_C->R 546 chr2:85890961:C:T 1182_718_240_A->T 546 chr2:85892908:C:T 1182_439_147_G->S 546 chr2:85893741:G:A 1182_428_143_T->I 546 chr2:85893835:A:C 1182_334_112_C->G 546 chr2:85894852:A:G 1182_181_61_C->R 546 chr2:85895269:A:G 1182_74_25_L->P 546 chr2:85895338:T:G 1182_5_2_H->P 546 oneKG Variants: 546 chr2:85888606:G:C 1182_1172_391_P->R 0.00199681 546 chr2:85888620:C:G 1182_1158_386_Q->H 0.000199681 546 chr2:85889207:G:A 1182_1064_355_T->M 0.000399361 546 chr2:85889225:T:A 1182_1046_349_Q->L 0.000199681 546 chr2:85890516:G:T 1182_991_331_Q->K 0.000399361 546 chr2:85890543:C:T 1182_964_322_G->R 0.000399361 546 chr2:85890571:G:C 1182_936_312_H->Q 0.000199681 546 chr2:85890583:G:T 1182_924_308_D->E 0.000199681 546 chr2:85890602:C:T 1182_905_302_G->E 0.000399361 546 chr2:85890608:G:A 1182_899_300_P->L 0.000399361 546 chr2:85890796:C:T 1182_883_295_A->T 0.00339457 546 chr2:85890817:G:A 1182_862_288_R->W 0.000199681 546 chr2:85890828:C:T 1182_851_284_R->H 0.00698882 546 chr2:85890864:G:A 1182_815_272_T->M 0.000199681 546 chr2:85890880:C:T 1182_799_267_V->I 0.000199681 546 chr2:85890966:G:A 1182_713_238_A->V 0.000599042 546 chr2:85892481:G:T 1182_639_213_F->L 0.000199681 546 chr2:85892763:C:T 1182_584_195_G->E 0.000599042 546 chr2:85892764:C:T 1182_583_195_G->R 0.00179712 546 chr2:85892782:C:T 1182_565_189_V->I 0.0121805 546 chr2:85892785:G:A 1182_562_188_L->F 0.00219649 546 chr2:85892817:C:T 1182_530_177_R->Q 0.000199681 546 chr2:85892818:G:A 1182_529_177_R->W 0.000199681 546 chr2:85892874:C:T 1182_473_158_R->Q 0.000399361 546 chr2:85892875:G:A 1182_472_158_R->W 0.000199681 546 chr2:85892889:C:T 1182_458_153_G->D 0.000199681 546 chr2:85892908:C:T 1182_439_147_G->S 0.000998403 546 chr2:85893741:G:A 1182_428_143_T->I 0.480032 546 chr2:85893757:A:C 1182_412_138_Y->D 0.000399361 546 chr2:85893760:C:T 1182_409_137_D->N 0.000199681 546 chr2:85893781:C:T 1182_388_130_D->N 0.000199681 546 chr2:85893836:C:G 1182_333_111_E->D 0.000199681 546 chr2:85893841:G:C 1182_328_110_Q->E 0.000199681 546 chr2:85893861:G:A 1182_308_103_T->M 0.000599042 546 chr2:85894249:C:A 1182_283_95_A->S 0.000199681 546 chr2:85894279:C:T 1182_253_85_E->K 0.000199681 546 chr2:85894807:C:T 1182_226_76_G->R 0.000599042 546 chr2:85894839:C:G 1182_194_65_G->A 0.000199681 546 chr2:85894923:C:A 1182_110_37_W->L 0.000199681 546 chr2:85895338:T:G 1182_5_2_H->P 0.41853 546 na12878 Variants: 546 chr2:85893741:G:A 1182_428_143_T->I 546 chr2:85895338:T:G 1182_5_2_H->P 546 snyder Variants: 546 chr2:85893741:G:A 1182_428_143_T->I 547 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125780_ENST00000381458 gene_Name: TGM3_HUMAN 547 list of pdbs: 547 1VJJ pdb_description: 02-Mar-04 X-ray 1.900 Structural basis for the coordinated regulation of transglut by guanine nucleotides and calcium/magnesium 547 1SGX pdb_description: 27-Apr-04 X-ray 2.000 Crystal structure of transglutaminase 3 in complex with boun structural basis for alteration in nucleotide specificity 547 1RLE pdb_description: 06-Jan-04 X-ray 2.100 Structural basis for the coordinated regulation of transglut by guanine nucleotides and calcium/magnesium 547 1NUG pdb_description: 22-Apr-03 X-ray 2.400 Role of calcium ions in the activation and activity of the transglutaminase 3 enzyme (2 calciums, 1 mg, inactive form) 547 1NUF pdb_description: 22-Apr-03 X-ray 2.700 Role of calcium ions in the activation and activity of the transglutaminase 3 enzyme 547 1NUD pdb_description: 22-Apr-03 X-ray 2.700 Role of calcium ions in the activation and activity of the transglutaminase 3 enzyme (3 calciums, active form) 547 1L9N pdb_description: 29-May-02 X-ray 2.100 Three-dimensional structure of the human transglutaminase 3 enzyme: binding of calcium ions change structure for activation 547 1L9M pdb_description: 29-May-02 X-ray 2.100 Three-dimensional structure of the human transglutaminase 3 enzyme: binding of calcium ions change structure for activation 547 Zimmer Variants: 547 chr20:2321105:G:C 2082_1960_654_G->R;GENE=TGM3;CDSS=2 547 chr20:2321139:G:A 2082_1994_665_R->Q;GENE=TGM3;CDSS=2 547 chr20:2290333:C:A 2082_38_13_T->K;GENE=TGM3;CDSS=1 547 HGMD Variants: 547 chr20:2290333:C:A 2082_38_13_T->K 547 chr20:2321105:G:C 2082_1960_654_G->R 547 oneKG Variants: 547 chr20:2276710:A:G 2082_1_1_M->V 0.000199681 547 chr20:2290333:C:A 2082_38_13_T->K 0.257388 547 chr20:2290920:G:A 2082_278_93_G->D 0.000199681 547 chr20:2290955:A:G 2082_313_105_S->G 0.000199681 547 chr20:2290970:C:T 2082_328_110_R->W 0.000399361 547 chr20:2291006:G:A 2082_364_122_G->S 0.00139776 547 chr20:2291680:C:G 2082_445_149_H->D 0.000199681 547 chr20:2291702:T:C 2082_467_156_V->A 0.000199681 547 chr20:2291716:G:A 2082_481_161_G->S 0.000199681 547 chr20:2291722:A:C 2082_487_163_I->L 0.120807 547 chr20:2291744:G:A 2082_509_170_R->Q 0.000199681 547 chr20:2293620:A:C 2082_617_206_D->A 0.000199681 547 chr20:2293665:G:A 2082_662_221_S->N 0.000199681 547 chr20:2297765:T:C 2082_721_241_Y->H 0.000199681 547 chr20:2297790:G:A 2082_746_249_S->N 0.111821 547 chr20:2298023:G:A 2082_875_292_R->Q 0.000199681 547 chr20:2298104:C:T 2082_956_319_P->L 0.000199681 547 chr20:2298107:T:C 2082_959_320_L->P 0.000199681 547 chr20:2306505:G:A 2082_994_332_V->I 0.000199681 547 chr20:2306553:G:A 2082_1042_348_G->S 0.000199681 547 chr20:2308826:A:G 2082_1148_383_N->S 0.000199681 547 chr20:2308830:C:G 2082_1152_384_F->L 0.000199681 547 chr20:2308831:G:A 2082_1153_385_D->N 0.000199681 547 chr20:2308867:C:T 2082_1189_397_R->C 0.000199681 547 chr20:2308868:G:A 2082_1190_397_R->H 0.000199681 547 chr20:2308894:A:G 2082_1216_406_T->A 0.000199681 547 chr20:2308922:A:G 2082_1244_415_N->S 0.000199681 547 chr20:2308927:C:G 2082_1249_417_H->D 0.00159744 547 chr20:2308949:G:T 2082_1271_424_S->I 0.000199681 547 chr20:2308976:G:A 2082_1298_433_R->H 0.000199681 547 chr20:2312660:A:G 2082_1346_449_E->G 0.000199681 547 chr20:2312717:C:T 2082_1403_468_A->V 0.00319489 547 chr20:2312788:A:C 2082_1474_492_M->L 0.000199681 547 chr20:2312900:C:T 2082_1586_529_T->M 0.000599042 547 chr20:2312938:T:A 2082_1624_542_S->T 0.000199681 547 chr20:2315791:G:A 2082_1672_558_A->T 0.000199681 547 chr20:2315827:A:G 2082_1708_570_I->V 0.000199681 547 chr20:2315831:G:A 2082_1712_571_R->Q 0.000199681 547 chr20:2315840:C:T 2082_1721_574_A->V 0.000399361 547 chr20:2315881:C:T 2082_1762_588_R->W 0.000599042 547 chr20:2315900:A:G 2082_1781_594_N->S 0.000399361 547 chr20:2320521:C:T 2082_1822_608_R->W 0.000399361 547 chr20:2320564:A:G 2082_1865_622_D->G 0.000399361 547 chr20:2321085:C:G 2082_1940_647_P->R 0.000199681 547 chr20:2321094:G:A 2082_1949_650_G->E 0.00998403 547 chr20:2321105:G:C 2082_1960_654_G->R 0.189497 547 chr20:2321111:C:T 2082_1966_656_R->W 0.000399361 547 chr20:2321118:G:A 2082_1973_658_R->H 0.000199681 547 chr20:2321138:C:T 2082_1993_665_R->W 0.000599042 547 chr20:2321139:G:A 2082_1994_665_R->Q 0.00279553 547 chr20:2321162:G:A 2082_2017_673_A->T 0.000399361 547 chr20:2321165:G:A 2082_2020_674_D->N 0.000599042 547 chr20:2321167:C:G 2082_2022_674_D->E 0.000199681 547 chr20:2321183:T:C 2082_2038_680_F->L 0.000199681 547 chr20:2321192:A:T 2082_2047_683_I->F 0.000199681 547 chr20:2321204:T:A 2082_2059_687_L->M 0.000399361 547 chr20:2321222:G:A 2082_2077_693_E->K 0.000199681 547 na12878 Variants: 547 chr20:2321105:G:C 2082_1960_654_G->R 547 chr20:2290333:C:A 2082_38_13_T->K 547 snyder Variants: 547 chr20:2321105:G:C 2082_1960_654_G->R 547 chr20:2290333:C:A 2082_38_13_T->K 547 chr20:2297790:G:A 2082_746_249_S->N 548 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125965_ENST00000374369 gene_Name: GDF5_HUMAN 548 list of pdbs: 548 3EVS pdb_description: 10-Mar-09 X-ray 2.100 Crystal structure of the gdf-5:bmp receptor ib complex. 548 2BHK pdb_description: 11-Mar-05 X-ray 2.400 Crystal structure of human growth and differentiation factor 5 (gdf5) 548 1WAQ pdb_description: 19-May-05 X-ray 2.280 Crystal structure of human growth and differentiation factor 5 (gdf-5) 548 3QB4 pdb_description: 14-Mar-12 X-ray 2.280 Crystal structure of a tgf-beta ligand-receptor complex 548 Zimmer Variants: 548 chr20:34022387:A:C 1506_826_276_S->A 548 HGMD Variants: 548 chr20:34021752:A:C 1506_1461_487_Y->* 548 chr20:34022312:G:A 1506_901_301_R->* 548 chr20:34021720:C:G 1506_1493_498_C->S 548 chr20:34021742:C:T 1506_1471_491_E->K 548 chr20:34021789:C:T 1506_1424_475_S->N 548 chr20:34021878:A:C 1506_1335_445_N->K 548 chr20:34021879:T:G 1506_1334_445_N->T 548 chr20:34021891:A:G 1506_1322_441_L->P 548 chr20:34021900:C:A 1506_1313_438_R->L 548 chr20:34021901:G:A 1506_1312_438_R->C 548 chr20:34021907:G:T 1506_1306_436_P->T 548 chr20:34021928:A:G 1506_1285_429_C->R 548 chr20:34021973:A:G 1506_1240_414_W->R 548 chr20:34022014:C:T 1506_1199_400_C->Y 548 chr20:34022018:G:A 1506_1195_399_R->C 548 chr20:34022074:C:T 1506_1139_380_R->Q 548 chr20:34022080:C:T 1506_1133_378_R->Q 548 chr20:34022095:A:C 1506_1118_373_L->R 548 chr20:34022425:A:G 1506_788_263_L->P 548 chr20:34025097:G:T 1506_612_204_S->R 548 chr20:34025108:T:G 1506_601_201_T->P 548 chr20:34025182:A:G 1506_527_176_L->P 548 chr20:34025192:T:C 1506_517_173_M->V 548 oneKG Variants: 548 chr20:34021805:G:C 1506_1408_470_R->G 0.000199681 548 chr20:34021873:G:C 1506_1340_447_A->G 0.000199681 548 chr20:34021925:C:T 1506_1288_430_E->K 0.000199681 548 chr20:34022034:G:T 1506_1179_393_S->R 0.000199681 548 chr20:34022085:C:A 1506_1128_376_Q->H 0.00379393 548 chr20:34022213:G:C 1506_1000_334_R->G 0.00459265 548 chr20:34022225:C:G 1506_988_330_D->H 0.000199681 548 chr20:34022234:G:C 1506_979_327_L->V 0.00179712 548 chr20:34022260:C:G 1506_953_318_R->P 0.000599042 548 chr20:34022270:C:T 1506_943_315_A->T 0.000199681 548 chr20:34022387:A:C 1506_826_276_S->A 0.383986 548 chr20:34022390:C:T 1506_823_275_A->T 0.000199681 548 chr20:34025135:C:T 1506_574_192_V->M 0.000199681 548 chr20:34025141:T:C 1506_568_190_S->G 0.000199681 548 chr20:34025149:C:T 1506_560_187_G->E 0.000199681 548 chr20:34025189:G:A 1506_520_174_L->F 0.000399361 548 chr20:34025212:G:T 1506_497_166_P->H 0.0315495 548 chr20:34025215:G:A 1506_494_165_P->L 0.000199681 548 chr20:34025302:T:A 1506_407_136_K->I 0.000199681 548 chr20:34025321:C:T 1506_388_130_G->R 0.00239617 548 chr20:34025350:C:T 1506_359_120_R->Q 0.000199681 548 chr20:34025360:C:A 1506_349_117_A->S 0.00419329 548 chr20:34025362:T:C 1506_347_116_Q->R 0.000199681 548 chr20:34025407:G:A 1506_302_101_P->L 0.000199681 548 chr20:34025433:A:T 1506_276_92_D->E 0.000199681 548 chr20:34025468:C:T 1506_241_81_G->R 0.000199681 548 chr20:34025503:G:C 1506_206_69_A->G 0.000199681 548 chr20:34025540:C:T 1506_169_57_V->I 0.000199681 548 chr20:34025680:A:G 1506_29_10_L->S 0.000199681 548 na12878 Variants: 548 chr20:34022387:A:C 1506_826_276_S->A 548 snyder Variants: 548 chr20:34022387:A:C 1506_826_276_S->A 549 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000125965_ENST00000374372 gene_Name: GDF5_HUMAN 549 list of pdbs: 549 3EVS pdb_description: 10-Mar-09 X-ray 2.100 Crystal structure of the gdf-5:bmp receptor ib complex. 549 2BHK pdb_description: 11-Mar-05 X-ray 2.400 Crystal structure of human growth and differentiation factor 5 (gdf5) 549 1WAQ pdb_description: 19-May-05 X-ray 2.280 Crystal structure of human growth and differentiation factor 5 (gdf-5) 549 3QB4 pdb_description: 14-Mar-12 X-ray 2.280 Crystal structure of a tgf-beta ligand-receptor complex 549 Zimmer Variants: 549 chr20:34022387:A:C 1506_826_276_S->A,1 549 HGMD Variants: 549 chr20:34021752:A:C 1506_1461_487_Y->* 549 chr20:34022312:G:A 1506_901_301_R->*,1 549 chr20:34021720:C:G 1506_1493_498_C->S 549 chr20:34021742:C:T 1506_1471_491_E->K 549 chr20:34021789:C:T 1506_1424_475_S->N 549 chr20:34021878:A:C 1506_1335_445_N->K 549 chr20:34021879:T:G 1506_1334_445_N->T 549 chr20:34021891:A:G 1506_1322_441_L->P 549 chr20:34021900:C:A 1506_1313_438_R->L 549 chr20:34021901:G:A 1506_1312_438_R->C 549 chr20:34021907:G:T 1506_1306_436_P->T 549 chr20:34021928:A:G 1506_1285_429_C->R 549 chr20:34021973:A:G 1506_1240_414_W->R,1 549 chr20:34022014:C:T 1506_1199_400_C->Y,1 549 chr20:34022018:G:A 1506_1195_399_R->C,1 549 chr20:34022074:C:T 1506_1139_380_R->Q,1 549 chr20:34022080:C:T 1506_1133_378_R->Q,1 549 chr20:34022095:A:C 1506_1118_373_L->R,1 549 chr20:34022425:A:G 1506_788_263_L->P,1 549 chr20:34025097:G:T 1506_612_204_S->R 549 chr20:34025108:T:G 1506_601_201_T->P 549 chr20:34025182:A:G 1506_527_176_L->P 549 chr20:34025192:T:C 1506_517_173_M->V 549 oneKG Variants: 549 chr20:34021805:G:C 1506_1408_470_R->G 0.000199681 549 chr20:34021873:G:C 1506_1340_447_A->G 0.000199681 549 chr20:34021925:C:T 1506_1288_430_E->K 0.000199681 549 chr20:34022034:G:T 1506_1179_393_S->R,1 0.000199681 549 chr20:34022085:C:A 1506_1128_376_Q->H,1 0.00379393 549 chr20:34022213:G:C 1506_1000_334_R->G,1 0.00459265 549 chr20:34022225:C:G 1506_988_330_D->H,1 0.000199681 549 chr20:34022234:G:C 1506_979_327_L->V,1 0.00179712 549 chr20:34022260:C:G 1506_953_318_R->P,1 0.000599042 549 chr20:34022270:C:T 1506_943_315_A->T,1 0.000199681 549 chr20:34022387:A:C 1506_826_276_S->A,1 0.383986 549 chr20:34022390:C:T 1506_823_275_A->T,1 0.000199681 549 chr20:34025135:C:T 1506_574_192_V->M 0.000199681 549 chr20:34025141:T:C 1506_568_190_S->G 0.000199681 549 chr20:34025149:C:T 1506_560_187_G->E 0.000199681 549 chr20:34025189:G:A 1506_520_174_L->F 0.000399361 549 chr20:34025212:G:T 1506_497_166_P->H 0.0315495 549 chr20:34025215:G:A 1506_494_165_P->L 0.000199681 549 chr20:34025302:T:A 1506_407_136_K->I 0.000199681 549 chr20:34025321:C:T 1506_388_130_G->R 0.00239617 549 chr20:34025350:C:T 1506_359_120_R->Q 0.000199681 549 chr20:34025360:C:A 1506_349_117_A->S 0.00419329 549 chr20:34025362:T:C 1506_347_116_Q->R 0.000199681 549 chr20:34025407:G:A 1506_302_101_P->L 0.000199681 549 chr20:34025433:A:T 1506_276_92_D->E 0.000199681 549 chr20:34025468:C:T 1506_241_81_G->R 0.000199681 549 chr20:34025503:G:C 1506_206_69_A->G 0.000199681 549 chr20:34025540:C:T 1506_169_57_V->I 0.000199681 549 chr20:34025680:A:G 1506_29_10_L->S 0.000199681 549 na12878 Variants: 549 chr20:34022387:A:C 1506_826_276_S->A,1 549 snyder Variants: 549 chr20:34022387:A:C 1506_826_276_S->A,1 550 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000101425_ENST00000262865 gene_Name: BPI_HUMAN 550 list of pdbs: 550 1EWF pdb_description: 21-Jun-00 X-ray 1.700 The 1.7 angstrom crystal structure of bpi 550 1BP1 pdb_description: 04-Sep-97 X-ray 2.400 Crystal structure of bpi, the human bactericidal permeability-increasing protein 550 Zimmer Variants: 550 chr20:36932660:C:T 1464_47_16_A->V;GENE=BPI;CDSS=2 550 chr20:36946848:G:A 1464_646_216_E->K;GENE=BPI;CDSS=1 550 chr20:36952342:C:T 1464_839_280_A->V;GENE=BPI;CDSS=1 550 HGMD Variants: 550 chr20:36946848:G:A 1464_646_216_E->K 550 oneKG Variants: 550 chr20:36932620:G:A 1464_7_3_E->K 0.000199681 550 chr20:36932627:T:G 1464_14_5_M->R 0.00439297 550 chr20:36932647:G:A 1464_34_12_A->T 0.00698882 550 chr20:36932648:C:T 1464_35_12_A->V 0.00299521 550 chr20:36932660:C:T 1464_47_16_A->V 0.43131 550 chr20:36932680:G:T 1464_67_23_A->S 0.000399361 550 chr20:36932719:G:A 1464_106_36_V->I 0.000199681 550 chr20:36935981:G:A 1464_155_52_G->E 0.000199681 550 chr20:36936026:A:G 1464_200_67_D->G 0.000199681 550 chr20:36937342:C:T 1464_268_90_R->C 0.00179712 550 chr20:36937414:G:A 1464_340_114_A->T 0.000199681 550 chr20:36937432:G:A 1464_358_120_G->R 0.000199681 550 chr20:36937435:A:C 1464_361_121_K->Q 0.000199681 550 chr20:36937444:G:A 1464_370_124_A->T 0.00319489 550 chr20:36938924:G:C 1464_418_140_E->Q 0.00479233 550 chr20:36938925:A:T 1464_419_140_E->V 0.000199681 550 chr20:36938928:G:C 1464_422_141_G->A 0.000199681 550 chr20:36938931:T:C 1464_425_142_M->T 0.000199681 550 chr20:36938936:A:G 1464_430_144_I->V 0.000599042 550 chr20:36938940:C:T 1464_434_145_S->L 0.000199681 550 chr20:36938979:A:T 1464_473_158_K->M 0.000399361 550 chr20:36939015:T:A 1464_509_170_I->N 0.000199681 550 chr20:36939029:G:A 1464_523_175_V->M 0.00319489 550 chr20:36940292:T:G 1464_565_189_F->V 0.000199681 550 chr20:36940311:C:T 1464_584_195_S->F 0.000199681 550 chr20:36940314:C:T 1464_587_196_A->V 0.0513179 550 chr20:36946848:G:A 1464_646_216_E->K 0.435104 550 chr20:36946875:C:A 1464_673_225_P->T 0.000399361 550 chr20:36948603:C:A 1464_695_232_S->Y 0.000199681 550 chr20:36948618:A:G 1464_710_237_N->S 0.000199681 550 chr20:36952300:A:G 1464_797_266_N->S 0.00239617 550 chr20:36952302:C:G 1464_799_267_P->A 0.000199681 550 chr20:36952335:C:T 1464_832_278_P->S 0.00119808 550 chr20:36952338:G:A 1464_835_279_A->T 0.000199681 550 chr20:36952342:C:T 1464_839_280_A->V 0.146765 550 chr20:36952351:G:A 1464_848_283_R->H 0.000199681 550 chr20:36952425:A:C 1464_922_308_K->Q 0.0117812 550 chr20:36953187:G:C 1464_957_319_E->D 0.000199681 550 chr20:36954670:G:A 1464_1009_337_A->T 0.00119808 550 chr20:36954688:A:G 1464_1027_343_M->V 0.000199681 550 chr20:36954722:C:T 1464_1061_354_P->L 0.000199681 550 chr20:36954724:C:T 1464_1063_355_P->S 0.114018 550 chr20:36954748:G:A 1464_1087_363_G->S 0.000199681 550 chr20:36954788:C:T 1464_1127_376_A->V 0.000199681 550 chr20:36954790:G:A 1464_1129_377_V->I 0.0417332 550 chr20:36954797:C:T 1464_1136_379_P->L 0.000199681 550 chr20:36956026:A:G 1464_1210_404_N->D 0.167532 550 chr20:36959482:G:C 1464_1274_425_G->A 0.00199681 550 chr20:36962895:G:A 1464_1348_450_E->K 0.000199681 550 chr20:36964002:A:G 1464_1351_451_K->E 0.00339457 550 chr20:36964033:C:T 1464_1382_461_P->L 0.000798722 550 chr20:36964056:G:A 1464_1405_469_V->I 0.000199681 550 chr20:36965551:T:A 1464_1429_477_F->I 0.000199681 550 chr20:36965563:G:A 1464_1441_481_G->S 0.000599042 550 chr20:36965569:G:C 1464_1447_483_D->H 0.00119808 550 na12878 Variants: 550 chr20:36932660:C:T 1464_47_16_A->V 550 chr20:36946848:G:A 1464_646_216_E->K 550 snyder Variants: 550 chr20:36932660:C:T 1464_47_16_A->V 550 chr20:36946848:G:A 1464_646_216_E->K 551 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196090_ENST00000373187 gene_Name: PTPRT_HUMAN 551 list of pdbs: 551 2OOQ pdb_description: 20-Feb-07 X-ray 1.800 Crystal structure of the human receptor phosphatase ptprt 551 Zimmer Variants: 551 chr20:41818289:C:G 4326_85_29_A->P 551 HGMD Variants: 551 chr20:40713421:G:A 4326_4037_1346_T->M 551 oneKG Variants: 551 chr20:40709551:C:T 4326_4294_1432_E->K 0.000199681 551 chr20:40710560:T:C 4326_4234_1412_T->A 0.000199681 551 chr20:40710573:G:C 4326_4221_1407_F->L 0.000399361 551 chr20:40710582:A:C 4326_4212_1404_I->M 0.000199681 551 chr20:40710643:C:T 4326_4151_1384_R->H 0.00219649 551 chr20:40713385:C:T 4326_4073_1358_R->Q 0.000199681 551 chr20:40713416:G:C 4326_4042_1348_P->A 0.000199681 551 chr20:40713428:G:C 4326_4030_1344_R->G 0.000199681 551 chr20:40713469:C:T 4326_3989_1330_R->H 0.000199681 551 chr20:40714457:A:T 4326_3883_1295_C->S 0.000798722 551 chr20:40727138:C:T 4326_3769_1257_V->M 0.000199681 551 chr20:40727162:T:C 4326_3745_1249_T->A 0.00239617 551 chr20:40730768:A:G 4326_3710_1237_M->T 0.000199681 551 chr20:40730775:C:T 4326_3703_1235_A->T 0.00119808 551 chr20:40730856:T:C 4326_3622_1208_S->G 0.000599042 551 chr20:40730876:C:T 4326_3602_1201_R->Q 0.000199681 551 chr20:40733305:G:T 4326_3444_1148_N->K 0.000399361 551 chr20:40733348:A:T 4326_3401_1134_V->E 0.000199681 551 chr20:40735430:G:C 4326_3386_1129_T->R 0.000199681 551 chr20:40735466:C:T 4326_3350_1117_R->H 0.000399361 551 chr20:40735522:G:T 4326_3294_1098_D->E 0.000199681 551 chr20:40739099:C:T 4326_3128_1043_R->H 0.000199681 551 chr20:40743858:C:T 4326_3080_1027_R->H 0.000199681 551 chr20:40743859:G:A 4326_3079_1027_R->C 0.000199681 551 chr20:40743919:C:A 4326_3019_1007_V->F 0.000599042 551 chr20:40743924:G:T 4326_3014_1005_T->K 0.000199681 551 chr20:40743945:A:G 4326_2993_998_V->A 0.00139776 551 chr20:40757395:T:C 4326_2846_949_D->G 0.000199681 551 chr20:40757444:C:G 4326_2797_933_V->L 0.0147764 551 chr20:40770631:C:G 4326_2694_898_E->D 0.000199681 551 chr20:40790170:C:G 4326_2504_835_R->P 0.000199681 551 chr20:40827892:C:T 4326_2479_827_V->I 0.000399361 551 chr20:40827934:C:T 4326_2437_813_A->T 0.0259585 551 chr20:40827948:G:A 4326_2423_808_T->I 0.000199681 551 chr20:40827958:C:A 4326_2413_805_D->Y 0.000199681 551 chr20:40877358:G:C 4326_2281_761_L->V 0.00239617 551 chr20:40944545:G:A 4326_1957_653_R->W 0.000199681 551 chr20:40944578:T:A 4326_1924_642_I->F 0.000199681 551 chr20:40979283:C:T 4326_1850_617_R->Q 0.000199681 551 chr20:40980744:C:T 4326_1742_581_R->Q 0.000199681 551 chr20:40980792:G:T 4326_1694_565_T->N 0.000599042 551 chr20:40980849:C:T 4326_1637_546_R->Q 0.000199681 551 chr20:40980861:A:G 4326_1625_542_V->A 0.000199681 551 chr20:40980873:T:A 4326_1613_538_Q->L 0.000199681 551 chr20:40980879:G:A 4326_1607_536_S->L 0.000998403 551 chr20:41076933:C:T 4326_1487_496_G->E 0.000399361 551 chr20:41100906:C:T 4326_1450_484_V->I 0.000199681 551 chr20:41100981:G:A 4326_1375_459_R->W 0.000798722 551 chr20:41101044:C:T 4326_1312_438_E->K 0.000199681 551 chr20:41101050:C:T 4326_1306_436_E->K 0.000399361 551 chr20:41101170:C:T 4326_1186_396_V->I 0.00319489 551 chr20:41306583:C:T 4326_1076_359_R->Q 0.000199681 551 chr20:41306643:A:G 4326_1016_339_I->T 0.000199681 551 chr20:41306701:T:C 4326_958_320_I->V 0.000199681 551 chr20:41408866:T:C 4326_560_187_H->R 0.000199681 551 chr20:41408891:C:A 4326_535_179_V->L 0.000199681 551 chr20:41408908:T:C 4326_518_173_H->R 0.000199681 551 chr20:41419986:C:T 4326_335_112_R->H 0.000599042 551 chr20:41420053:G:A 4326_268_90_L->F 0.000199681 551 chr20:41420056:G:A 4326_265_89_H->Y 0.000199681 551 chr20:41420086:T:A 4326_235_79_S->C 0.000199681 551 chr20:41420095:T:C 4326_226_76_M->V 0.0107827 551 chr20:41514512:T:C 4326_149_50_N->S 0.000199681 551 chr20:41514552:G:C 4326_109_37_H->D 0.000199681 551 chr20:41818289:C:G 4326_85_29_A->P 0.288938 551 na12878 Variants: 551 chr20:41818289:C:G 4326_85_29_A->P 551 snyder Variants: 551 chr20:41818289:C:G 4326_85_29_A->P 552 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196090_ENST00000373198 gene_Name: PTPRT_HUMAN 552 list of pdbs: 552 2OOQ pdb_description: 20-Feb-07 X-ray 1.800 Crystal structure of the human receptor phosphatase ptprt 552 Zimmer Variants: 552 chr20:41818289:C:G 4383_85_29_A->P 552 HGMD Variants: 552 chr20:40713421:G:A 4383_4094_1365_T->M 552 oneKG Variants: 552 chr20:40709551:C:T 4383_4351_1451_E->K 0.000199681 552 chr20:40710560:T:C 4383_4291_1431_T->A 0.000199681 552 chr20:40710573:G:C 4383_4278_1426_F->L 0.000399361 552 chr20:40710582:A:C 4383_4269_1423_I->M 0.000199681 552 chr20:40710643:C:T 4383_4208_1403_R->H 0.00219649 552 chr20:40713385:C:T 4383_4130_1377_R->Q 0.000199681 552 chr20:40713416:G:C 4383_4099_1367_P->A 0.000199681 552 chr20:40713428:G:C 4383_4087_1363_R->G 0.000199681 552 chr20:40713469:C:T 4383_4046_1349_R->H 0.000199681 552 chr20:40714457:A:T 4383_3940_1314_C->S 0.000798722 552 chr20:40727138:C:T 4383_3826_1276_V->M 0.000199681 552 chr20:40727162:T:C 4383_3802_1268_T->A 0.00239617 552 chr20:40730768:A:G 4383_3767_1256_M->T 0.000199681 552 chr20:40730775:C:T 4383_3760_1254_A->T 0.00119808 552 chr20:40730856:T:C 4383_3679_1227_S->G 0.000599042 552 chr20:40730876:C:T 4383_3659_1220_R->Q 0.000199681 552 chr20:40733305:G:T 4383_3501_1167_N->K 0.000399361 552 chr20:40733348:A:T 4383_3458_1153_V->E 0.000199681 552 chr20:40735430:G:C 4383_3443_1148_T->R 0.000199681 552 chr20:40735466:C:T 4383_3407_1136_R->H 0.000399361 552 chr20:40735522:G:T 4383_3351_1117_D->E 0.000199681 552 chr20:40739099:C:T 4383_3185_1062_R->H 0.000199681 552 chr20:40743858:C:T 4383_3137_1046_R->H 0.000199681 552 chr20:40743859:G:A 4383_3136_1046_R->C 0.000199681 552 chr20:40743919:C:A 4383_3076_1026_V->F 0.000599042 552 chr20:40743924:G:T 4383_3071_1024_T->K 0.000199681 552 chr20:40743945:A:G 4383_3050_1017_V->A 0.00139776 552 chr20:40757395:T:C 4383_2903_968_D->G 0.000199681 552 chr20:40757444:C:G 4383_2854_952_V->L 0.0147764 552 chr20:40770631:C:G 4383_2751_917_E->D 0.000199681 552 chr20:40790170:C:G 4383_2561_854_R->P 0.000199681 552 chr20:40827892:C:T 4383_2536_846_V->I 0.000399361 552 chr20:40827934:C:T 4383_2494_832_A->T 0.0259585 552 chr20:40827948:G:A 4383_2480_827_T->I 0.000199681 552 chr20:40827958:C:A 4383_2470_824_D->Y 0.000199681 552 chr20:40877358:G:C 4383_2338_780_L->V 0.00239617 552 chr20:40899061:T:G 4383_2209_737_T->P 0.00219649 552 chr20:40899066:G:A 4383_2204_735_P->L 0.000199681 552 chr20:40899088:T:C 4383_2182_728_M->V 0.000199681 552 chr20:40944545:G:A 4383_1957_653_R->W 0.000199681 552 chr20:40944578:T:A 4383_1924_642_I->F 0.000199681 552 chr20:40979283:C:T 4383_1850_617_R->Q 0.000199681 552 chr20:40980744:C:T 4383_1742_581_R->Q 0.000199681 552 chr20:40980792:G:T 4383_1694_565_T->N 0.000599042 552 chr20:40980849:C:T 4383_1637_546_R->Q 0.000199681 552 chr20:40980861:A:G 4383_1625_542_V->A 0.000199681 552 chr20:40980873:T:A 4383_1613_538_Q->L 0.000199681 552 chr20:40980879:G:A 4383_1607_536_S->L 0.000998403 552 chr20:41076933:C:T 4383_1487_496_G->E 0.000399361 552 chr20:41100906:C:T 4383_1450_484_V->I 0.000199681 552 chr20:41100981:G:A 4383_1375_459_R->W 0.000798722 552 chr20:41101044:C:T 4383_1312_438_E->K 0.000199681 552 chr20:41101050:C:T 4383_1306_436_E->K 0.000399361 552 chr20:41101170:C:T 4383_1186_396_V->I 0.00319489 552 chr20:41306583:C:T 4383_1076_359_R->Q 0.000199681 552 chr20:41306643:A:G 4383_1016_339_I->T 0.000199681 552 chr20:41306701:T:C 4383_958_320_I->V 0.000199681 552 chr20:41408866:T:C 4383_560_187_H->R 0.000199681 552 chr20:41408891:C:A 4383_535_179_V->L 0.000199681 552 chr20:41408908:T:C 4383_518_173_H->R 0.000199681 552 chr20:41419986:C:T 4383_335_112_R->H 0.000599042 552 chr20:41420053:G:A 4383_268_90_L->F 0.000199681 552 chr20:41420056:G:A 4383_265_89_H->Y 0.000199681 552 chr20:41420086:T:A 4383_235_79_S->C 0.000199681 552 chr20:41420095:T:C 4383_226_76_M->V 0.0107827 552 chr20:41514512:T:C 4383_149_50_N->S 0.000199681 552 chr20:41514552:G:C 4383_109_37_H->D 0.000199681 552 chr20:41818289:C:G 4383_85_29_A->P 0.288938 552 na12878 Variants: 552 chr20:41818289:C:G 4383_85_29_A->P 552 snyder Variants: 552 chr20:41818289:C:G 4383_85_29_A->P 553 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154646_ENST00000284885 gene_Name: ENTK_HUMAN 553 list of pdbs: 553 4DGJ pdb_description: 18-Apr-12 X-ray 1.900 Structure of a human enteropeptidase light chain variant 553 Zimmer Variants: 553 chr21:19670118:G:A 3060_2194_732_P->S;GENE=TMPRSS15;CDSS=2;DBRECUR=TMPRSS15 553 chr21:19756040:C:G 3060_400_134_E->Q;GENE=TMPRSS15;CDSS=1;DBRECUR=TMPRSS15 553 HGMD Variants: 553 chr21:19653456:G:A 3060_2569_857_R->* 553 chr21:19685292:G:C 3060_2135_712_S->* 553 chr21:19732173:G:A 3060_781_261_Q->* 553 oneKG Variants: 553 chr21:19685292:G:C 3060_2135_712_S->* 0.000199681 553 chr21:19642342:C:T 3060_3004_1002_G->R 0.000199681 553 chr21:19642347:C:T 3060_2999_1000_R->H 0.000599042 553 chr21:19642417:A:C 3060_2929_977_C->G 0.000199681 553 chr21:19642441:C:T 3060_2905_969_G->R 0.000998403 553 chr21:19647545:C:T 3060_2873_958_G->D 0.000199681 553 chr21:19647553:T:C 3060_2865_955_I->M 0.000199681 553 chr21:19647570:T:A 3060_2848_950_I->F 0.000399361 553 chr21:19651307:G:A 3060_2738_913_A->V 0.0493211 553 chr21:19651329:G:C 3060_2716_906_P->A 0.00399361 553 chr21:19651341:G:C 3060_2704_902_Q->E 0.00279553 553 chr21:19653413:C:T 3060_2612_871_R->Q 0.000199681 553 chr21:19653428:G:T 3060_2597_866_P->H 0.000199681 553 chr21:19653459:G:C 3060_2566_856_P->A 0.000199681 553 chr21:19653486:A:G 3060_2539_847_S->P 0.0 553 chr21:19653489:T:G 3060_2536_846_K->Q 0.000399361 553 chr21:19666590:T:C 3060_2483_828_Y->C 0.00439297 553 chr21:19666606:C:T 3060_2467_823_A->T 0.0 553 chr21:19666630:C:T 3060_2443_815_V->I 0.000199681 553 chr21:19666642:C:T 3060_2431_811_G->S 0.000199681 553 chr21:19666657:C:T 3060_2416_806_G->S 0.000199681 553 chr21:19666690:C:T 3060_2383_795_A->T 0.000599042 553 chr21:19670118:G:A 3060_2194_732_P->S 0.299121 553 chr21:19685262:C:A 3060_2165_722_G->V 0.000199681 553 chr21:19685275:G:T 3060_2152_718_L->M 0.000199681 553 chr21:19685353:G:A 3060_2074_692_R->W 0.000199681 553 chr21:19685391:C:T 3060_2036_679_R->H 0.000399361 553 chr21:19687492:C:T 3060_2003_668_C->Y 0.000199681 553 chr21:19687498:A:G 3060_1997_666_L->P 0.00259585 553 chr21:19687511:A:G 3060_1984_662_C->R 0.000199681 553 chr21:19687517:T:G 3060_1978_660_N->H 0.0547125 553 chr21:19687544:T:G 3060_1951_651_K->Q 0.000399361 553 chr21:19698749:C:T 3060_1921_641_E->K 0.00299521 553 chr21:19698814:T:C 3060_1856_619_N->S 0.000199681 553 chr21:19701530:A:C 3060_1736_579_V->G 0.000599042 553 chr21:19701572:T:C 3060_1694_565_Q->R 0.000199681 553 chr21:19704416:G:T 3060_1639_547_P->T 0.000199681 553 chr21:19704422:T:A 3060_1633_545_S->C 0.0553115 553 chr21:19704484:C:T 3060_1571_524_C->Y 0.000199681 553 chr21:19704490:G:A 3060_1565_522_T->M 0.000199681 553 chr21:19713765:G:A 3060_1529_510_P->L 0.000399361 553 chr21:19713766:G:A 3060_1528_510_P->S 0.000199681 553 chr21:19713783:C:T 3060_1511_504_G->E 0.00599042 553 chr21:19713823:C:T 3060_1471_491_A->T 0.000199681 553 chr21:19715900:C:G 3060_1351_451_V->L 0.000199681 553 chr21:19715911:A:G 3060_1340_447_M->T 0.00339457 553 chr21:19715947:T:C 3060_1304_435_H->R 0.00539137 553 chr21:19716305:T:C 3060_1244_415_D->G 0.000199681 553 chr21:19716347:C:T 3060_1202_401_G->E 0.000199681 553 chr21:19725249:T:C 3060_1142_381_N->S 0.0105831 553 chr21:19726063:G:A 3060_998_333_A->V 0.000998403 553 chr21:19726111:A:G 3060_950_317_I->T 0.000199681 553 chr21:19726126:G:A 3060_935_312_T->I 0.00119808 553 chr21:19726136:T:C 3060_925_309_N->D 0.000399361 553 chr21:19726138:G:A 3060_923_308_S->F 0.00539137 553 chr21:19726180:G:A 3060_881_294_A->V 0.000199681 553 chr21:19732164:A:G 3060_790_264_S->P 0.000798722 553 chr21:19744623:C:T 3060_551_184_C->Y 0.000199681 553 chr21:19751600:C:T 3060_532_178_G->R 0.000199681 553 chr21:19755982:A:T 3060_458_153_V->D 0.000399361 553 chr21:19756012:C:A 3060_428_143_G->V 0.000998403 553 chr21:19756040:C:G 3060_400_134_E->Q 0.225639 553 chr21:19756052:A:G 3060_388_130_W->R 0.000199681 553 chr21:19756080:T:C 3060_360_120_I->M 0.00279553 553 chr21:19770562:T:C 3060_230_77_K->R 0.10024 553 chr21:19770577:G:A 3060_215_72_P->L 0.000199681 553 chr21:19770598:G:A 3060_194_65_T->I 0.0101837 553 chr21:19775837:A:T 3060_103_35_L->I 0.000199681 553 chr21:19775843:C:T 3060_97_33_A->T 0.000199681 553 chr21:19775896:C:T 3060_44_15_S->N 0.00299521 553 chr21:19775902:G:A 3060_38_13_S->F 0.000199681 553 na12878 Variants: 553 chr21:19670118:G:A 3060_2194_732_P->S 553 snyder Variants: 553 chr21:19670118:G:A 3060_2194_732_P->S 553 chr21:19756040:C:G 3060_400_134_E->Q 554 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000154734_ENST00000284984 gene_Name: ATS1_HUMAN 554 list of pdbs: 554 3Q2H pdb_description: 30-Mar-11 X-ray 2.330 Adamts1 in complex with n-hydroxyformamide inhibitors of ada 554 3Q2G pdb_description: 30-Mar-11 X-ray 2.300 Adamts1 in complex with a novel n-hydroxyformamide inhibitor 554 2V4B pdb_description: 15-Jan-08 X-ray 2.000 Crystal structure of human adamts-1 catalytic domain and cysteine-rich domain (apo-form) 554 2JIH pdb_description: 15-Jan-08 X-ray 2.100 Crystal structure of human adamts-1 catalytic domain and cysteine-rich domain (complex-form) 554 Zimmer Variants: 554 chr21:28216595:C:G 2904_679_227_A->P;GNEG=Yes;GENE=ADAMTS1;CDSS=2;DBRECUR=ADAMTS1 554 HGMD Variants: 554 chr21:28214245:G:A 2904_1142_381_P->L 554 oneKG Variants: 554 chr21:28212644:C:T 2904_1616_539_W->* 0.000199681 554 chr21:28209986:T:C 2904_2816_939_D->G 0.000199681 554 chr21:28209989:T:C 2904_2813_938_H->R 0.000798722 554 chr21:28210071:G:C 2904_2731_911_Q->E 0.000399361 554 chr21:28210209:C:T 2904_2593_865_E->K 0.000399361 554 chr21:28210250:G:A 2904_2552_851_A->V 0.000199681 554 chr21:28210263:C:T 2904_2539_847_E->K 0.000199681 554 chr21:28210304:C:A 2904_2498_833_R->L 0.000199681 554 chr21:28210335:T:A 2904_2467_823_I->F 0.000199681 554 chr21:28210368:G:A 2904_2434_812_R->C 0.00139776 554 chr21:28210457:T:C 2904_2345_782_D->G 0.000599042 554 chr21:28210535:C:T 2904_2267_756_R->Q 0.00119808 554 chr21:28210577:A:G 2904_2225_742_I->T 0.000199681 554 chr21:28210854:C:T 2904_2108_703_R->H 0.0499201 554 chr21:28210930:C:T 2904_2032_678_V->I 0.000199681 554 chr21:28211920:C:T 2904_2014_672_V->I 0.000599042 554 chr21:28211980:C:T 2904_1954_652_V->I 0.000199681 554 chr21:28211997:A:G 2904_1937_646_I->T 0.000199681 554 chr21:28212043:C:T 2904_1891_631_E->K 0.00319489 554 chr21:28212046:T:A 2904_1888_630_N->Y 0.000199681 554 chr21:28212224:A:C 2904_1822_608_C->G 0.000199681 554 chr21:28212313:C:A 2904_1733_578_G->V 0.000199681 554 chr21:28212320:C:T 2904_1726_576_G->S 0.000998403 554 chr21:28212379:G:A 2904_1667_556_T->M 0.000399361 554 chr21:28212633:C:T 2904_1627_543_G->S 0.000199681 554 chr21:28212719:G:A 2904_1541_514_T->I 0.000199681 554 chr21:28212720:T:C 2904_1540_514_T->A 0.000599042 554 chr21:28212810:C:T 2904_1450_484_A->T 0.000199681 554 chr21:28212842:A:G 2904_1418_473_L->P 0.000199681 554 chr21:28212851:G:A 2904_1409_470_P->L 0.000199681 554 chr21:28212861:G:C 2904_1399_467_P->A 0.00119808 554 chr21:28213333:A:C 2904_1362_454_F->L 0.000199681 554 chr21:28213422:G:T 2904_1273_425_Q->K 0.000199681 554 chr21:28214255:C:A 2904_1132_378_V->L 0.000798722 554 chr21:28214799:G:C 2904_936_312_I->M 0.000199681 554 chr21:28214911:C:T 2904_824_275_G->D 0.000399361 554 chr21:28214926:A:G 2904_809_270_M->T 0.000199681 554 chr21:28214960:A:G 2904_775_259_Y->H 0.000199681 554 chr21:28216595:C:G 2904_679_227_A->P 0.310903 554 chr21:28216619:C:T 2904_655_219_G->R 0.000199681 554 chr21:28216636:G:C 2904_638_213_T->S 0.000199681 554 chr21:28216688:C:A 2904_586_196_G->C 0.000199681 554 chr21:28216741:G:C 2904_533_178_P->R 0.000199681 554 chr21:28216810:G:C 2904_464_155_A->G 0.000798722 554 chr21:28216862:C:A 2904_412_138_A->S 0.000399361 554 chr21:28216867:G:A 2904_407_136_A->V 0.000199681 554 chr21:28216871:A:C 2904_403_135_S->A 0.000399361 554 chr21:28216919:C:G 2904_355_119_D->H 0.000399361 554 chr21:28216961:C:T 2904_313_105_V->M 0.000199681 554 chr21:28217059:C:T 2904_215_72_G->E 0.00279553 554 chr21:28217060:C:G 2904_214_72_G->R 0.000199681 554 chr21:28217116:G:C 2904_158_53_P->R 0.000399361 554 chr21:28217183:C:T 2904_91_31_G->R 0.000399361 554 chr21:28217207:G:A 2904_67_23_R->W 0.000199681 554 chr21:28217213:C:T 2904_61_21_A->T 0.000199681 554 chr21:28217255:C:G 2904_19_7_E->Q 0.000199681 554 na12878 Variants: 554 chr21:28216595:C:G 2904_679_227_A->P 554 snyder Variants: 554 chr21:28216595:C:G 2904_679_227_A->P 555 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000159231_ENST00000290354 gene_Name: CBR3_HUMAN 555 list of pdbs: 555 2HRB pdb_description: 08-Aug-06 X-ray 1.900 Crystal structure of human carbonyl reductase 3, complexed w 555 Zimmer Variants: 555 chr21:37507501:G:A 834_11_4_C->Y;GENE=CBR3;CDSS=2 555 chr21:37518706:G:A 834_730_244_V->M;GENE=CBR3;CDSS=1 555 HGMD Variants: 555 chr21:37507501:G:A 834_11_4_C->Y 555 chr21:37507767:G:A 834_277_93_V->I 555 chr21:37518679:A:T 834_703_235_M->L 555 chr21:37518706:G:A 834_730_244_V->M 555 oneKG Variants: 555 chr21:37507501:G:A 834_11_4_C->Y 0.366813 555 chr21:37507533:A:G 834_43_15_R->G 0.000199681 555 chr21:37507587:G:A 834_97_33_V->M 0.000399361 555 chr21:37507643:G:C 834_153_51_Q->H 0.000199681 555 chr21:37507719:C:A 834_229_77_L->M 0.000399361 555 chr21:37507740:C:G 834_250_84_L->V 0.0367412 555 chr21:37510157:G:T 834_324_108_E->D 0.000199681 555 chr21:37510203:G:A 834_370_124_E->K 0.00359425 555 chr21:37510224:C:T 834_391_131_P->S 0.0433307 555 chr21:37518379:G:T 834_403_135_V->L 0.000199681 555 chr21:37518391:A:T 834_415_139_S->C 0.00119808 555 chr21:37518473:G:A 834_497_166_G->E 0.000199681 555 chr21:37518523:G:A 834_547_183_V->M 0.000199681 555 chr21:37518573:G:T 834_597_199_L->F 0.000199681 555 chr21:37518581:C:T 834_605_202_T->M 0.0 555 chr21:37518608:G:A 834_632_211_R->H 0.000199681 555 chr21:37518649:G:A 834_673_225_A->T 0.000199681 555 chr21:37518650:C:T 834_674_225_A->V 0.000399361 555 chr21:37518661:G:A 834_685_229_G->R 0.000199681 555 chr21:37518667:G:A 834_691_231_V->M 0.0 555 chr21:37518679:A:T 834_703_235_M->L 0.00519169 555 chr21:37518706:G:A 834_730_244_V->M 0.427117 555 chr21:37518725:C:A 834_749_250_T->N 0.000199681 555 na12878 Variants: 555 chr21:37507501:G:A 834_11_4_C->Y 555 snyder Variants: 555 chr21:37507501:G:A 834_11_4_C->Y 555 chr21:37518706:G:A 834_730_244_V->M 556 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163781_ENST00000260810 gene_Name: TOPB1_HUMAN 556 list of pdbs: 556 3UEN pdb_description: 03-Jul-13 X-ray 1.900 Crystal structure of topbp1 brct4/5 domains 556 3PD7 pdb_description: 08-Dec-10 X-ray 1.260 Crystal structure of the sixth brct domain of human topbp1 556 3OLC pdb_description: 30-Mar-11 X-ray 2.400 Crystal structure of the n-terminal region of topbp1 556 3JVE pdb_description: 19-Jan-10 X-ray 1.340 Crystal structure of the sixth brct domain of topbp1 556 3AL2 pdb_description: 01-Dec-10 X-ray 2.000 Crystal structure of topbp1 brct7/8 556 2XNK pdb_description: 01-Sep-10 X-ray 2.600 Structure and function of the rad9-binding region of the DNA checkpoint adaptor topbp1 556 2XNH pdb_description: 01-Sep-10 X-ray 2.800 Structure and function of the rad9-binding region of the DNA checkpoint adaptor topbp1 556 1WF6 pdb_description: 26-Nov-04 NMR 20 The third brca1 c-terminus (brct) domain of similar to s.Pombe rad4+/cut5+ product 556 3UEO pdb_description: 03-Jul-13 X-ray 2.600 Crystal structure of topbp1 brct4/5 domains in complex with peptide 556 3AL3 pdb_description: 01-Dec-10 X-ray 2.150 Crystal structure of topbp1 brct7/8-bach1 peptide complex 556 Zimmer Variants: 556 chr3:133356790:G:A 4569_2450_817_S->L;GENE=TOPBP1;CANG=[DNA_repair];CDSS=2;DBRECUR=TOPBP1 556 chr3:133368362:T:G 4569_1369_457_K->Q;GENE=TOPBP1;CANG=[DNA_repair];CDSS=2;DBRECUR=TOPBP1 556 HGMD Variants: 556 chr3:133341988:T:C 4569_3125_1042_N->S 556 chr3:133356790:G:A 4569_2450_817_S->L 556 chr3:133371471:G:A 4569_925_309_R->C 556 oneKG Variants: 556 chr3:133320110:C:T 4569_4553_1518_R->Q 0.000399361 556 chr3:133320184:A:C 4569_4479_1493_I->M 0.00139776 556 chr3:133327399:T:C 4569_4405_1469_I->V 0.000199681 556 chr3:133327416:C:T 4569_4388_1463_C->Y 0.000599042 556 chr3:133327432:C:A 4569_4372_1458_A->S 0.0061901 556 chr3:133327474:G:C 4569_4330_1444_L->V 0.000199681 556 chr3:133327769:T:G 4569_4211_1404_D->A 0.000399361 556 chr3:133331283:G:C 4569_3985_1329_L->V 0.000199681 556 chr3:133331327:C:T 4569_3941_1314_R->Q 0.000199681 556 chr3:133331361:T:C 4569_3907_1303_T->A 0.000199681 556 chr3:133336030:G:C 4569_3733_1245_P->A 0.000199681 556 chr3:133336059:G:T 4569_3704_1235_P->H 0.000199681 556 chr3:133336147:G:A 4569_3616_1206_R->C 0.000399361 556 chr3:133336148:T:C 4569_3615_1205_I->M 0.000798722 556 chr3:133337110:A:G 4569_3539_1180_L->S 0.000199681 556 chr3:133337240:G:C 4569_3409_1137_P->A 0.000599042 556 chr3:133341988:T:C 4569_3125_1042_N->S 0.187899 556 chr3:133341998:T:C 4569_3115_1039_M->V 0.000199681 556 chr3:133342192:C:T 4569_3038_1013_R->Q 0.00539137 556 chr3:133342223:C:T 4569_3007_1003_A->T 0.00638978 556 chr3:133342913:C:T 4569_2911_971_E->K 0.000199681 556 chr3:133347228:C:T 4569_2782_928_A->T 0.000199681 556 chr3:133347451:C:A 4569_2647_883_V->F 0.000199681 556 chr3:133347498:A:G 4569_2600_867_I->T 0.000199681 556 chr3:133347516:G:A 4569_2582_861_T->M 0.000199681 556 chr3:133347520:T:G 4569_2578_860_S->R 0.000399361 556 chr3:133347532:T:C 4569_2566_856_K->E 0.000199681 556 chr3:133347544:G:A 4569_2554_852_P->S 0.000199681 556 chr3:133347546:C:T 4569_2552_851_R->H 0.000199681 556 chr3:133356733:G:C 4569_2507_836_S->C 0.000399361 556 chr3:133356737:G:C 4569_2503_835_P->A 0.000199681 556 chr3:133356785:G:T 4569_2455_819_H->N 0.000798722 556 chr3:133356790:G:A 4569_2450_817_S->L 0.0810703 556 chr3:133356833:C:T 4569_2407_803_A->T 0.000798722 556 chr3:133356838:T:C 4569_2402_801_Q->R 0.000399361 556 chr3:133356866:G:A 4569_2374_792_R->C 0.000199681 556 chr3:133357000:C:T 4569_2240_747_S->N 0.000199681 556 chr3:133358890:C:T 4569_2146_716_V->I 0.000399361 556 chr3:133363070:T:A 4569_1642_548_T->S 0.00259585 556 chr3:133368292:C:T 4569_1439_480_S->N 0.000399361 556 chr3:133368340:A:G 4569_1391_464_L->P 0.000199681 556 chr3:133368362:T:G 4569_1369_457_K->Q 0.304113 556 chr3:133368457:T:C 4569_1274_425_K->R 0.000199681 556 chr3:133368669:T:C 4569_1208_403_D->G 0.000399361 556 chr3:133368768:C:G 4569_1109_370_S->T 0.000199681 556 chr3:133368784:A:G 4569_1093_365_Y->H 0.000199681 556 chr3:133371326:T:A 4569_1070_357_D->V 0.000399361 556 chr3:133371408:A:T 4569_988_330_C->S 0.000199681 556 chr3:133371458:T:C 4569_938_313_D->G 0.000199681 556 chr3:133371471:G:A 4569_925_309_R->C 0.0391374 556 chr3:133372234:T:C 4569_877_293_M->V 0.000998403 556 chr3:133372260:G:C 4569_851_284_T->R 0.000199681 556 chr3:133372268:T:C 4569_843_281_I->M 0.000199681 556 chr3:133374204:C:A 4569_672_224_K->N 0.000399361 556 chr3:133374266:T:C 4569_610_204_I->V 0.000399361 556 chr3:133374275:G:A 4569_601_201_L->F 0.00179712 556 chr3:133374316:T:C 4569_560_187_Y->C 0.000399361 556 chr3:133375524:C:T 4569_541_181_E->K 0.000199681 556 chr3:133375546:T:A 4569_519_173_K->N 0.000199681 556 chr3:133375577:T:C 4569_488_163_K->R 0.000998403 556 chr3:133376750:T:C 4569_255_85_I->M 0.000599042 556 chr3:133377883:C:T 4569_196_66_V->I 0.000199681 556 chr3:133379913:G:T 4569_59_20_S->Y 0.000199681 556 chr3:133379950:G:A 4569_22_8_P->S 0.000199681 556 na12878 Variants: 556 chr3:133368362:T:G 4569_1369_457_K->Q 556 chr3:133341988:T:C 4569_3125_1042_N->S 556 snyder Variants: 556 chr3:133368362:T:G 4569_1369_457_K->Q 556 chr3:133341988:T:C 4569_3125_1042_N->S 557 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000170266_ENST00000307363 gene_Name: BGAL_HUMAN 557 list of pdbs: 557 3THD pdb_description: 07-Dec-11 X-ray 1.790 Crystal structure of human beta-galactosidase in complex wit deoxygalactonojirimycin 557 3THC pdb_description: 07-Dec-11 X-ray 1.800 Crystal structure of human beta-galactosidase in complex wit galactose 557 Zimmer Variants: 557 chr3:33110383:G:A 2034_325_109_R->W 557 chr3:33138549:G:A 2034_29_10_P->L 557 HGMD Variants: 557 chr3:33038825:C:T 2034_1746_582_W->* 557 chr3:33055554:C:T 2034_1728_576_W->* 557 chr3:33055701:C:T 2034_1581_527_W->* 557 chr3:33055702:C:T 2034_1580_527_W->* 557 chr3:33055733:C:A 2034_1549_517_E->* 557 chr3:33058239:C:A 2034_1441_481_G->* 557 chr3:33058311:G:A 2034_1369_457_R->* 557 chr3:33087629:G:A 2034_1051_351_R->* 557 chr3:33093471:C:T 2034_818_273_W->* 557 chr3:33107024:C:T 2034_483_161_W->* 557 chr3:33110432:C:T 2034_276_92_W->* 557 chr3:33110433:C:T 2034_275_92_W->* 557 chr3:33114086:C:T 2034_195_65_W->* 557 chr3:33114110:G:C 2034_171_57_Y->* 557 chr3:33038676:T:C 2034_1895_632_E->G 557 chr3:33038695:A:G 2034_1876_626_C->R 557 chr3:33038743:T:C 2034_1828_610_T->A 557 chr3:33038748:A:G 2034_1823_608_L->P 557 chr3:33038782:G:A 2034_1789_597_P->S 557 chr3:33038788:G:A 2034_1783_595_R->W 557 chr3:33038799:T:C 2034_1772_591_Y->C 557 chr3:33038800:A:T 2034_1771_591_Y->N 557 chr3:33038802:C:T 2034_1769_590_R->H 557 chr3:33038803:G:A 2034_1768_590_R->C 557 chr3:33038803:G:T 2034_1768_590_R->S 557 chr3:33038832:T:C 2034_1739_580_Q->R 557 chr3:33038835:C:T 2034_1736_579_G->D 557 chr3:33055549:T:C 2034_1733_578_K->R 557 chr3:33055621:C:T 2034_1661_554_G->E 557 chr3:33055636:G:A 2034_1646_549_P->L 557 chr3:33055688:T:C 2034_1594_532_S->G 557 chr3:33055721:A:G 2034_1561_521_C->R 557 chr3:33055755:C:A 2034_1527_509_W->C 557 chr3:33055784:T:C 2034_1498_500_T->A 557 chr3:33055801:C:A 2034_1481_494_G->V 557 chr3:33055802:C:A 2034_1480_494_G->C 557 chr3:33055802:C:T 2034_1480_494_G->S 557 chr3:33058209:C:A 2034_1471_491_D->Y 557 chr3:33058209:C:T 2034_1471_491_D->N 557 chr3:33058226:T:C 2034_1454_485_Y->C 557 chr3:33058228:G:T 2034_1452_484_N->K 557 chr3:33058235:C:T 2034_1445_482_R->H 557 chr3:33058236:G:A 2034_1444_482_R->C 557 chr3:33058242:T:C 2034_1438_480_M->V 557 chr3:33058310:C:T 2034_1370_457_R->Q 557 chr3:33059944:T:A 2034_1343_448_D->V 557 chr3:33059956:T:C 2034_1331_444_Y->C 557 chr3:33059962:C:T 2034_1325_442_R->Q 557 chr3:33059966:C:T 2034_1321_441_D->N 557 chr3:33059971:A:C 2034_1316_439_V->G 557 chr3:33059974:C:T 2034_1313_438_G->E 557 chr3:33059981:G:A 2034_1306_436_L->F 557 chr3:33059986:G:A 2034_1301_434_S->L 557 chr3:33060022:A:C 2034_1265_422_L->R 557 chr3:33060028:G:T 2034_1259_420_T->K 557 chr3:33060029:T:G 2034_1258_420_T->P 557 chr3:33063068:T:G 2034_1223_408_Q->P 557 chr3:33063102:G:C 2034_1189_397_P->A 557 chr3:33063125:A:G 2034_1166_389_L->P 557 chr3:33065815:A:C 2034_1071_357_F->L 557 chr3:33087640:T:C 2034_1040_347_Y->C 557 chr3:33087642:C:G 2034_1038_346_K->N 557 chr3:33087670:A:G 2034_1010_337_L->P 557 chr3:33087682:T:C 2034_998_333_Y->C 557 chr3:33087683:A:G 2034_997_333_Y->H 557 chr3:33087684:G:C 2034_996_332_D->E 557 chr3:33087686:C:T 2034_994_332_D->N 557 chr3:33087694:G:A 2034_986_329_T->I 557 chr3:33087695:T:C 2034_985_329_T->A 557 chr3:33087709:T:C 2034_971_324_Y->C 557 chr3:33093253:T:G 2034_952_318_N->H 557 chr3:33093258:T:C 2034_947_316_Y->C 557 chr3:33093274:C:T 2034_931_311_G->R 557 chr3:33093283:A:G 2034_922_308_F->L 557 chr3:33093387:G:A 2034_902_301_A->V 557 chr3:33093387:G:A 2034_902_301_A->V 557 chr3:33093448:G:A 2034_841_281_H->Y 557 chr3:33093472:A:G 2034_817_273_W->R 557 chr3:33093474:C:T 2034_815_272_G->D 557 chr3:33093480:T:A 2034_809_270_Y->F 557 chr3:33093481:A:C 2034_808_270_Y->D 557 chr3:33093492:T:C 2034_797_266_N->S 557 chr3:33094984:A:G 2034_791_264_L->S 557 chr3:33094988:G:A 2034_787_263_P->S 557 chr3:33094990:C:A 2034_785_262_G->V 557 chr3:33095010:C:G 2034_765_255_Q->H 557 chr3:33099596:C:T 2034_718_240_V->M 557 chr3:33099598:G:A 2034_716_239_T->M 557 chr3:33099625:C:T 2034_689_230_C->Y 557 chr3:33099626:A:G 2034_688_230_C->R 557 chr3:33099667:A:G 2034_647_216_V->A 557 chr3:33099674:C:A 2034_640_214_D->Y 557 chr3:33099692:G:A 2034_622_208_R->C 557 chr3:33099712:C:T 2034_602_201_R->H 557 chr3:33099713:G:A 2034_601_201_R->C 557 chr3:33099718:T:C 2034_596_199_Y->C 557 chr3:33099722:C:A 2034_592_198_D->Y 557 chr3:33099742:C:T 2034_572_191_S->N 557 chr3:33099745:C:T 2034_569_190_G->D 557 chr3:33099757:T:G 2034_557_186_E->A 557 chr3:33106956:T:C 2034_551_184_Q->R 557 chr3:33106965:A:T 2034_542_181_I->K 557 chr3:33106987:A:G 2034_520_174_Y->H 557 chr3:33106989:A:G 2034_518_173_L->P 557 chr3:33107022:A:G 2034_485_162_L->S 557 chr3:33107026:A:C 2034_481_161_W->G 557 chr3:33107043:A:C 2034_464_155_L->R 557 chr3:33109727:T:A 2034_452_151_D->V 557 chr3:33109728:C:A 2034_451_151_D->Y 557 chr3:33109733:G:A 2034_446_149_S->F 557 chr3:33109736:C:T 2034_443_148_R->H 557 chr3:33109737:G:T 2034_442_148_R->S 557 chr3:33109737:G:A 2034_442_148_R->C 557 chr3:33109755:T:G 2034_424_142_K->Q 557 chr3:33109773:G:A 2034_406_136_P->S 557 chr3:33109778:C:A 2034_401_134_G->V 557 chr3:33110313:A:G 2034_395_132_M->T 557 chr3:33110317:C:T 2034_391_131_E->K 557 chr3:33110328:C:T 2034_380_127_C->Y 557 chr3:33110341:C:T 2034_367_123_G->R 557 chr3:33110345:C:A 2034_363_121_R->S 557 chr3:33110373:T:G 2034_335_112_H->P 557 chr3:33110389:A:G 2034_319_107_F->L 557 chr3:33110404:G:C 2034_304_102_H->D 557 chr3:33110460:T:C 2034_248_83_Y->C 557 chr3:33110461:A:G 2034_247_83_Y->H 557 chr3:33114036:G:A 2034_245_82_T->M 557 chr3:33114064:T:C 2034_217_73_K->E 557 chr3:33114075:A:G 2034_206_69_L->P 557 chr3:33114078:C:T 2034_203_68_R->Q 557 chr3:33114079:G:A 2034_202_68_R->W 557 chr3:33114090:T:A 2034_191_64_Y->F 557 chr3:33114093:A:T 2034_188_63_F->Y 557 chr3:33114105:C:T 2034_176_59_R->H 557 chr3:33114106:G:A 2034_175_59_R->C 557 chr3:33114120:C:T 2034_161_54_S->N 557 chr3:33114120:C:A 2034_161_54_S->I 557 chr3:33114129:A:T 2034_152_51_I->N 557 chr3:33114129:A:G 2034_152_51_I->T 557 chr3:33114135:C:T 2034_146_49_R->H 557 chr3:33114136:G:A 2034_145_49_R->C 557 chr3:33114169:G:C 2034_112_38_R->G 557 chr3:33114174:T:G 2034_107_36_Y->S 557 chr3:33138549:G:A 2034_29_10_P->L 557 oneKG Variants: 557 chr3:33038572:G:C 2034_1999_667_Q->E 0.000199681 557 chr3:33038688:C:T 2034_1883_628_S->N 0.000199681 557 chr3:33038727:G:T 2034_1844_615_T->N 0.000199681 557 chr3:33038788:G:A 2034_1783_595_R->W 0.000199681 557 chr3:33038800:A:G 2034_1771_591_Y->H 0.000199681 557 chr3:33055567:T:C 2034_1715_572_Q->R 0.000798722 557 chr3:33055642:G:A 2034_1640_547_T->M 0.000199681 557 chr3:33055672:T:G 2034_1610_537_E->A 0.000199681 557 chr3:33055688:T:C 2034_1594_532_S->G 0.0349441 557 chr3:33055693:C:T 2034_1589_530_R->H 0.000199681 557 chr3:33055694:G:A 2034_1588_530_R->C 0.000599042 557 chr3:33055705:C:T 2034_1577_526_G->D 0.00559105 557 chr3:33055720:C:T 2034_1562_521_C->Y 0.000199681 557 chr3:33055721:A:G 2034_1561_521_C->R 0.072883 557 chr3:33055739:C:T 2034_1543_515_D->N 0.000199681 557 chr3:33055801:C:A 2034_1481_494_G->V 0.000199681 557 chr3:33058310:C:T 2034_1370_457_R->Q 0.000199681 557 chr3:33059962:C:T 2034_1325_442_R->Q 0.000199681 557 chr3:33059977:T:C 2034_1310_437_N->S 0.00219649 557 chr3:33059981:G:A 2034_1306_436_L->F 0.00479233 557 chr3:33060001:G:A 2034_1286_429_P->L 0.000199681 557 chr3:33060002:G:A 2034_1285_429_P->S 0.000798722 557 chr3:33060029:T:G 2034_1258_420_T->P 0.000199681 557 chr3:33065798:C:T 2034_1088_363_G->D 0.000199681 557 chr3:33093405:T:C 2034_884_295_D->G 0.000199681 557 chr3:33094990:C:T 2034_785_262_G->E 0.000199681 557 chr3:33095030:T:C 2034_745_249_T->A 0.000199681 557 chr3:33099643:T:C 2034_671_224_H->R 0.000199681 557 chr3:33099691:C:T 2034_623_208_R->H 0.000599042 557 chr3:33099692:G:A 2034_622_208_R->C 0.000399361 557 chr3:33099712:C:T 2034_602_201_R->H 0.000199681 557 chr3:33109737:G:T 2034_442_148_R->S 0.000199681 557 chr3:33110383:G:A 2034_325_109_R->W 0.0091853 557 chr3:33114046:C:T 2034_235_79_A->T 0.000199681 557 chr3:33114078:C:T 2034_203_68_R->Q 0.000199681 557 chr3:33114120:C:T 2034_161_54_S->N 0.000199681 557 chr3:33138517:T:C 2034_61_21_T->A 0.000199681 557 chr3:33138519:G:A 2034_59_20_P->L 0.000399361 557 chr3:33138538:C:G 2034_40_14_V->L 0.000199681 557 chr3:33138547:G:C 2034_31_11_L->V 0.00239617 557 chr3:33138549:G:A 2034_29_10_P->L 0.431909 557 na12878 Variants: 557 chr3:33138549:G:A 2034_29_10_P->L 557 snyder Variants: 557 chr3:33138549:G:A 2034_29_10_P->L 558 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000170266_ENST00000445488 gene_Name: BGAL_HUMAN 558 list of pdbs: 558 3THD pdb_description: 07-Dec-11 X-ray 1.790 Crystal structure of human beta-galactosidase in complex wit deoxygalactonojirimycin 558 3THC pdb_description: 07-Dec-11 X-ray 1.800 Crystal structure of human beta-galactosidase in complex wit galactose 558 Zimmer Variants: 558 chr3:33110383:G:A 2178_469_157_R->W 558 chr3:33138549:G:A 2178_29_10_P->L 558 HGMD Variants: 558 chr3:33038825:C:T 2178_1890_630_W->* 558 chr3:33055554:C:T 2178_1872_624_W->* 558 chr3:33055701:C:T 2178_1725_575_W->* 558 chr3:33055702:C:T 2178_1724_575_W->* 558 chr3:33055733:C:A 2178_1693_565_E->* 558 chr3:33058239:C:A 2178_1585_529_G->* 558 chr3:33058311:G:A 2178_1513_505_R->* 558 chr3:33087629:G:A 2178_1195_399_R->* 558 chr3:33093471:C:T 2178_962_321_W->* 558 chr3:33107024:C:T 2178_627_209_W->* 558 chr3:33110432:C:T 2178_420_140_W->* 558 chr3:33110433:C:T 2178_419_140_W->* 558 chr3:33114086:C:T 2178_339_113_W->* 558 chr3:33114110:G:C 2178_315_105_Y->* 558 chr3:33038676:T:C 2178_2039_680_E->G 558 chr3:33038695:A:G 2178_2020_674_C->R 558 chr3:33038743:T:C 2178_1972_658_T->A 558 chr3:33038748:A:G 2178_1967_656_L->P 558 chr3:33038782:G:A 2178_1933_645_P->S 558 chr3:33038788:G:A 2178_1927_643_R->W 558 chr3:33038799:T:C 2178_1916_639_Y->C 558 chr3:33038800:A:T 2178_1915_639_Y->N 558 chr3:33038802:C:T 2178_1913_638_R->H 558 chr3:33038803:G:A 2178_1912_638_R->C 558 chr3:33038803:G:T 2178_1912_638_R->S 558 chr3:33038832:T:C 2178_1883_628_Q->R 558 chr3:33038835:C:T 2178_1880_627_G->D 558 chr3:33055549:T:C 2178_1877_626_K->R 558 chr3:33055621:C:T 2178_1805_602_G->E 558 chr3:33055636:G:A 2178_1790_597_P->L 558 chr3:33055688:T:C 2178_1738_580_S->G 558 chr3:33055721:A:G 2178_1705_569_C->R 558 chr3:33055755:C:A 2178_1671_557_W->C 558 chr3:33055784:T:C 2178_1642_548_T->A 558 chr3:33055801:C:A 2178_1625_542_G->V 558 chr3:33055802:C:A 2178_1624_542_G->C 558 chr3:33055802:C:T 2178_1624_542_G->S 558 chr3:33058209:C:A 2178_1615_539_D->Y 558 chr3:33058209:C:T 2178_1615_539_D->N 558 chr3:33058226:T:C 2178_1598_533_Y->C 558 chr3:33058228:G:T 2178_1596_532_N->K 558 chr3:33058235:C:T 2178_1589_530_R->H 558 chr3:33058236:G:A 2178_1588_530_R->C 558 chr3:33058242:T:C 2178_1582_528_M->V 558 chr3:33058310:C:T 2178_1514_505_R->Q 558 chr3:33059944:T:A 2178_1487_496_D->V 558 chr3:33059956:T:C 2178_1475_492_Y->C 558 chr3:33059962:C:T 2178_1469_490_R->Q 558 chr3:33059966:C:T 2178_1465_489_D->N 558 chr3:33059971:A:C 2178_1460_487_V->G 558 chr3:33059974:C:T 2178_1457_486_G->E 558 chr3:33059981:G:A 2178_1450_484_L->F 558 chr3:33059986:G:A 2178_1445_482_S->L 558 chr3:33060022:A:C 2178_1409_470_L->R 558 chr3:33060028:G:T 2178_1403_468_T->K 558 chr3:33060029:T:G 2178_1402_468_T->P 558 chr3:33063068:T:G 2178_1367_456_Q->P 558 chr3:33063102:G:C 2178_1333_445_P->A 558 chr3:33063125:A:G 2178_1310_437_L->P 558 chr3:33065815:A:C 2178_1215_405_F->L 558 chr3:33087640:T:C 2178_1184_395_Y->C 558 chr3:33087642:C:G 2178_1182_394_K->N 558 chr3:33087670:A:G 2178_1154_385_L->P 558 chr3:33087682:T:C 2178_1142_381_Y->C 558 chr3:33087683:A:G 2178_1141_381_Y->H 558 chr3:33087684:G:C 2178_1140_380_D->E 558 chr3:33087686:C:T 2178_1138_380_D->N 558 chr3:33087694:G:A 2178_1130_377_T->I 558 chr3:33087695:T:C 2178_1129_377_T->A 558 chr3:33087709:T:C 2178_1115_372_Y->C 558 chr3:33093253:T:G 2178_1096_366_N->H 558 chr3:33093258:T:C 2178_1091_364_Y->C 558 chr3:33093274:C:T 2178_1075_359_G->R 558 chr3:33093283:A:G 2178_1066_356_F->L 558 chr3:33093387:G:A 2178_1046_349_A->V 558 chr3:33093387:G:A 2178_1046_349_A->V 558 chr3:33093448:G:A 2178_985_329_H->Y 558 chr3:33093472:A:G 2178_961_321_W->R 558 chr3:33093474:C:T 2178_959_320_G->D 558 chr3:33093480:T:A 2178_953_318_Y->F 558 chr3:33093481:A:C 2178_952_318_Y->D 558 chr3:33093492:T:C 2178_941_314_N->S 558 chr3:33094984:A:G 2178_935_312_L->S 558 chr3:33094988:G:A 2178_931_311_P->S 558 chr3:33094990:C:A 2178_929_310_G->V 558 chr3:33095010:C:G 2178_909_303_Q->H 558 chr3:33099596:C:T 2178_862_288_V->M 558 chr3:33099598:G:A 2178_860_287_T->M 558 chr3:33099625:C:T 2178_833_278_C->Y 558 chr3:33099626:A:G 2178_832_278_C->R 558 chr3:33099667:A:G 2178_791_264_V->A 558 chr3:33099674:C:A 2178_784_262_D->Y 558 chr3:33099692:G:A 2178_766_256_R->C 558 chr3:33099712:C:T 2178_746_249_R->H 558 chr3:33099713:G:A 2178_745_249_R->C 558 chr3:33099718:T:C 2178_740_247_Y->C 558 chr3:33099722:C:A 2178_736_246_D->Y 558 chr3:33099742:C:T 2178_716_239_S->N 558 chr3:33099745:C:T 2178_713_238_G->D 558 chr3:33099757:T:G 2178_701_234_E->A 558 chr3:33106956:T:C 2178_695_232_Q->R 558 chr3:33106965:A:T 2178_686_229_I->K 558 chr3:33106987:A:G 2178_664_222_Y->H 558 chr3:33106989:A:G 2178_662_221_L->P 558 chr3:33107022:A:G 2178_629_210_L->S 558 chr3:33107026:A:C 2178_625_209_W->G 558 chr3:33107043:A:C 2178_608_203_L->R 558 chr3:33109727:T:A 2178_596_199_D->V 558 chr3:33109728:C:A 2178_595_199_D->Y 558 chr3:33109733:G:A 2178_590_197_S->F 558 chr3:33109736:C:T 2178_587_196_R->H 558 chr3:33109737:G:T 2178_586_196_R->S 558 chr3:33109737:G:A 2178_586_196_R->C 558 chr3:33109755:T:G 2178_568_190_K->Q 558 chr3:33109773:G:A 2178_550_184_P->S 558 chr3:33109778:C:A 2178_545_182_G->V 558 chr3:33110313:A:G 2178_539_180_M->T 558 chr3:33110317:C:T 2178_535_179_E->K 558 chr3:33110328:C:T 2178_524_175_C->Y 558 chr3:33110341:C:T 2178_511_171_G->R 558 chr3:33110345:C:A 2178_507_169_R->S 558 chr3:33110373:T:G 2178_479_160_H->P 558 chr3:33110389:A:G 2178_463_155_F->L 558 chr3:33110404:G:C 2178_448_150_H->D 558 chr3:33110460:T:C 2178_392_131_Y->C 558 chr3:33110461:A:G 2178_391_131_Y->H 558 chr3:33114036:G:A 2178_389_130_T->M 558 chr3:33114064:T:C 2178_361_121_K->E 558 chr3:33114075:A:G 2178_350_117_L->P 558 chr3:33114078:C:T 2178_347_116_R->Q 558 chr3:33114079:G:A 2178_346_116_R->W 558 chr3:33114090:T:A 2178_335_112_Y->F 558 chr3:33114093:A:T 2178_332_111_F->Y 558 chr3:33114105:C:T 2178_320_107_R->H 558 chr3:33114106:G:A 2178_319_107_R->C 558 chr3:33114120:C:T 2178_305_102_S->N 558 chr3:33114120:C:A 2178_305_102_S->I 558 chr3:33114129:A:T 2178_296_99_I->N 558 chr3:33114129:A:G 2178_296_99_I->T 558 chr3:33114135:C:T 2178_290_97_R->H 558 chr3:33114136:G:A 2178_289_97_R->C 558 chr3:33114169:G:C 2178_256_86_R->G 558 chr3:33114174:T:G 2178_251_84_Y->S 558 chr3:33138549:G:A 2178_29_10_P->L 558 oneKG Variants: 558 chr3:33118726:G:A 2178_79_27_R->* 0.000199681 558 chr3:33038572:G:C 2178_2143_715_Q->E 0.000199681 558 chr3:33038688:C:T 2178_2027_676_S->N 0.000199681 558 chr3:33038727:G:T 2178_1988_663_T->N 0.000199681 558 chr3:33038788:G:A 2178_1927_643_R->W 0.000199681 558 chr3:33038800:A:G 2178_1915_639_Y->H 0.000199681 558 chr3:33055567:T:C 2178_1859_620_Q->R 0.000798722 558 chr3:33055642:G:A 2178_1784_595_T->M 0.000199681 558 chr3:33055672:T:G 2178_1754_585_E->A 0.000199681 558 chr3:33055688:T:C 2178_1738_580_S->G 0.0349441 558 chr3:33055693:C:T 2178_1733_578_R->H 0.000199681 558 chr3:33055694:G:A 2178_1732_578_R->C 0.000599042 558 chr3:33055705:C:T 2178_1721_574_G->D 0.00559105 558 chr3:33055720:C:T 2178_1706_569_C->Y 0.000199681 558 chr3:33055721:A:G 2178_1705_569_C->R 0.072883 558 chr3:33055739:C:T 2178_1687_563_D->N 0.000199681 558 chr3:33055801:C:A 2178_1625_542_G->V 0.000199681 558 chr3:33058310:C:T 2178_1514_505_R->Q 0.000199681 558 chr3:33059962:C:T 2178_1469_490_R->Q 0.000199681 558 chr3:33059977:T:C 2178_1454_485_N->S 0.00219649 558 chr3:33059981:G:A 2178_1450_484_L->F 0.00479233 558 chr3:33060001:G:A 2178_1430_477_P->L 0.000199681 558 chr3:33060002:G:A 2178_1429_477_P->S 0.000798722 558 chr3:33060029:T:G 2178_1402_468_T->P 0.000199681 558 chr3:33065798:C:T 2178_1232_411_G->D 0.000199681 558 chr3:33093405:T:C 2178_1028_343_D->G 0.000199681 558 chr3:33094990:C:T 2178_929_310_G->E 0.000199681 558 chr3:33095030:T:C 2178_889_297_T->A 0.000199681 558 chr3:33099643:T:C 2178_815_272_H->R 0.000199681 558 chr3:33099691:C:T 2178_767_256_R->H 0.000599042 558 chr3:33099692:G:A 2178_766_256_R->C 0.000399361 558 chr3:33099712:C:T 2178_746_249_R->H 0.000199681 558 chr3:33109737:G:T 2178_586_196_R->S 0.000199681 558 chr3:33110383:G:A 2178_469_157_R->W 0.0091853 558 chr3:33114046:C:T 2178_379_127_A->T 0.000199681 558 chr3:33114078:C:T 2178_347_116_R->Q 0.000199681 558 chr3:33114120:C:T 2178_305_102_S->N 0.000199681 558 chr3:33118596:C:T 2178_209_70_R->Q 0.000599042 558 chr3:33118630:C:T 2178_175_59_A->T 0.00579073 558 chr3:33118725:C:T 2178_80_27_R->Q 0.00339457 558 chr3:33138517:T:C 2178_61_21_T->A 0.000199681 558 chr3:33138519:G:A 2178_59_20_P->L 0.000399361 558 chr3:33138538:C:G 2178_40_14_V->L 0.000199681 558 chr3:33138547:G:C 2178_31_11_L->V 0.00239617 558 chr3:33138549:G:A 2178_29_10_P->L 0.431909 558 na12878 Variants: 558 chr3:33138549:G:A 2178_29_10_P->L 558 snyder Variants: 558 chr3:33138549:G:A 2178_29_10_P->L 559 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000157119_ENST00000287777 gene_Name: KLH40_HUMAN 559 list of pdbs: 559 4ASC pdb_description: 09-May-12 X-ray 1.780 Crystal structure of the kelch domain of human kbtbd5 559 Zimmer Variants: 559 chr3:42728144:A:G 1866_1034_345_N->S;GENE=KLHL40;CDSS=2 559 chr3:42733468:T:C 1866_1849_617_C->R;GENE=KLHL40;CDSS=2 559 HGMD Variants: 559 chr3:42727156:C:T 1866_46_16_Q->* 559 chr3:42727380:C:G 1866_270_90_Y->* 559 chr3:42727712:G:A 1866_602_201_W->* 559 chr3:42727210:G:C 1866_100_34_D->H 559 chr3:42727367:T:C 1866_257_86_L->P 559 chr3:42727691:T:A 1866_581_194_V->E 559 chr3:42727712:G:T 1866_602_201_W->L 559 chr3:42728041:C:A 1866_931_311_R->S 559 chr3:42728042:G:T 1866_932_311_R->L 559 chr3:42729671:C:T 1866_1190_397_P->L 559 chr3:42730152:A:G 1866_1364_455_H->R 559 chr3:42730193:G:T 1866_1405_469_G->C 559 chr3:42730455:A:C 1866_1516_506_T->P 559 chr3:42730521:G:A 1866_1582_528_E->K 559 chr3:42732355:G:C 1866_1612_538_A->P 559 chr3:42733381:G:A 1866_1762_588_E->K 559 oneKG Variants: 559 chr3:42727183:G:T 1866_73_25_D->Y 0.000199681 559 chr3:42727198:G:A 1866_88_30_G->S 0.000199681 559 chr3:42727306:C:A 1866_196_66_P->T 0.000199681 559 chr3:42727307:C:G 1866_197_66_P->R 0.000199681 559 chr3:42727316:C:T 1866_206_69_A->V 0.000199681 559 chr3:42727348:G:C 1866_238_80_D->H 0.000199681 559 chr3:42727387:G:C 1866_277_93_E->Q 0.00159744 559 chr3:42727402:G:A 1866_292_98_E->K 0.000199681 559 chr3:42727471:G:T 1866_361_121_V->L 0.000199681 559 chr3:42727504:A:G 1866_394_132_N->D 0.000199681 559 chr3:42727582:G:T 1866_472_158_A->S 0.000199681 559 chr3:42727606:G:T 1866_496_166_D->Y 0.000199681 559 chr3:42727771:T:G 1866_661_221_F->V 0.000199681 559 chr3:42727828:C:T 1866_718_240_R->C 0.000199681 559 chr3:42727883:A:C 1866_773_258_K->T 0.000199681 559 chr3:42727892:A:C 1866_782_261_H->P 0.000199681 559 chr3:42727946:G:T 1866_836_279_G->V 0.000199681 559 chr3:42727982:A:C 1866_872_291_K->T 0.0107827 559 chr3:42728078:T:G 1866_968_323_I->S 0.000199681 559 chr3:42728101:T:C 1866_991_331_Y->H 0.000199681 559 chr3:42728144:A:G 1866_1034_345_N->S 0.377396 559 chr3:42728169:C:A 1866_1059_353_S->R 0.000199681 559 chr3:42728220:C:A 1866_1110_370_N->K 0.000199681 559 chr3:42728248:G:A 1866_1138_380_A->T 0.000399361 559 chr3:42729754:G:A 1866_1273_425_G->S 0.000798722 559 chr3:42729760:C:T 1866_1279_427_R->C 0.000199681 559 chr3:42729773:C:T 1866_1292_431_S->L 0.000199681 559 chr3:42730379:G:A 1866_1440_480_M->I 0.000199681 559 chr3:42730416:C:G 1866_1477_493_L->V 0.000199681 559 chr3:42730434:G:A 1866_1495_499_A->T 0.000798722 559 chr3:42730479:G:A 1866_1540_514_V->M 0.00439297 559 chr3:42732379:G:C 1866_1636_546_E->Q 0.000199681 559 chr3:42732382:C:T 1866_1639_547_R->C 0.000199681 559 chr3:42732383:G:A 1866_1640_547_R->H 0.000798722 559 chr3:42732410:T:G 1866_1667_556_V->G 0.000199681 559 chr3:42732424:G:A 1866_1681_561_A->T 0.000199681 559 chr3:42732449:A:T 1866_1706_569_E->V 0.000199681 559 chr3:42732452:C:T 1866_1709_570_T->M 0.000399361 559 chr3:42732481:C:A 1866_1738_580_L->I 0.00479233 559 chr3:42733381:G:A 1866_1762_588_E->K 0.000998403 559 chr3:42733420:G:A 1866_1801_601_A->T 0.00479233 559 chr3:42733448:C:T 1866_1829_610_P->L 0.000199681 559 chr3:42733454:G:A 1866_1835_612_R->Q 0.000199681 559 chr3:42733468:T:C 1866_1849_617_C->R 0.10024 559 chr3:42733469:G:A 1866_1850_617_C->Y 0.000199681 559 na12878 Variants: 559 chr3:42728144:A:G 1866_1034_345_N->S 559 chr3:42733468:T:C 1866_1849_617_C->R 559 snyder Variants: 559 chr3:42728144:A:G 1866_1034_345_N->S 559 chr3:42733468:T:C 1866_1849_617_C->R 560 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000076201_ENST00000265562 gene_Name: PTN23_HUMAN 560 list of pdbs: 560 3RAU pdb_description: 14-Sep-11 X-ray 1.950 Crystal structure of the hd-ptp bro1 domain 560 Zimmer Variants: 560 chr3:47452118:G:A 4911_2830_944_A->T 560 HGMD Variants: 560 chr3:47453379:G:T 4911_3995_1332_R->L 560 oneKG Variants: 560 chr3:47448802:C:T 4911_868_290_Q->* 0.000199681 560 chr3:47446239:C:T 4911_257_86_S->L 0.00219649 560 chr3:47446241:G:A 4911_259_87_G->S 0.000199681 560 chr3:47446563:A:G 4911_356_119_Y->C 0.000199681 560 chr3:47447463:G:A 4911_473_158_R->Q 0.000798722 560 chr3:47447468:C:T 4911_478_160_H->Y 0.000199681 560 chr3:47447473:C:A 4911_483_161_F->L 0.00139776 560 chr3:47447489:G:A 4911_499_167_V->I 0.00279553 560 chr3:47447532:T:C 4911_542_181_M->T 0.000199681 560 chr3:47447884:A:G 4911_616_206_I->V 0.000199681 560 chr3:47447999:G:C 4911_656_219_R->P 0.000199681 560 chr3:47448037:C:T 4911_694_232_R->W 0.000199681 560 chr3:47448038:G:A 4911_695_232_R->Q 0.000199681 560 chr3:47448214:G:A 4911_781_261_E->K 0.00119808 560 chr3:47448229:T:C 4911_796_266_F->L 0.000199681 560 chr3:47448232:G:A 4911_799_267_G->R 0.000399361 560 chr3:47448822:C:G 4911_888_296_D->E 0.000199681 560 chr3:47448824:C:T 4911_890_297_A->V 0.000199681 560 chr3:47449000:A:G 4911_929_310_N->S 0.000199681 560 chr3:47449851:A:G 4911_1201_401_M->V 0.000199681 560 chr3:47449927:C:G 4911_1277_426_A->G 0.000199681 560 chr3:47449942:G:A 4911_1292_431_R->Q 0.000199681 560 chr3:47450274:G:C 4911_1339_447_G->R 0.000599042 560 chr3:47450365:T:C 4911_1430_477_V->A 0.000199681 560 chr3:47450373:G:A 4911_1438_480_A->T 0.000199681 560 chr3:47450439:A:G 4911_1504_502_M->V 0.000199681 560 chr3:47450533:T:C 4911_1598_533_L->P 0.000199681 560 chr3:47450545:G:A 4911_1610_537_R->Q 0.000199681 560 chr3:47450563:C:T 4911_1628_543_P->L 0.00798722 560 chr3:47450683:G:A 4911_1673_558_R->H 0.000199681 560 chr3:47450916:G:A 4911_1807_603_E->K 0.000199681 560 chr3:47450982:C:T 4911_1873_625_R->C 0.000199681 560 chr3:47450983:G:A 4911_1874_625_R->H 0.000399361 560 chr3:47451027:G:A 4911_1918_640_V->M 0.000199681 560 chr3:47451045:G:A 4911_1936_646_D->N 0.000199681 560 chr3:47451189:A:T 4911_1994_665_Y->F 0.000199681 560 chr3:47451201:T:C 4911_2006_669_M->T 0.000199681 560 chr3:47451210:C:T 4911_2015_672_S->L 0.000199681 560 chr3:47451293:C:T 4911_2098_700_R->C 0.000199681 560 chr3:47451431:A:C 4911_2143_715_K->Q 0.000199681 560 chr3:47451441:C:T 4911_2153_718_P->L 0.000199681 560 chr3:47451473:C:T 4911_2185_729_R->C 0.000199681 560 chr3:47451512:C:T 4911_2224_742_P->S 0.000199681 560 chr3:47451536:C:G 4911_2248_750_P->A 0.000199681 560 chr3:47451546:T:C 4911_2258_753_V->A 0.000199681 560 chr3:47451570:C:T 4911_2282_761_T->I 0.000199681 560 chr3:47451636:G:A 4911_2348_783_G->E 0.000199681 560 chr3:47451638:C:T 4911_2350_784_P->S 0.0081869 560 chr3:47451663:C:T 4911_2375_792_P->L 0.00179712 560 chr3:47451678:C:T 4911_2390_797_S->L 0.000399361 560 chr3:47451708:C:T 4911_2420_807_A->V 0.000399361 560 chr3:47451774:C:T 4911_2486_829_P->L 0.000199681 560 chr3:47451778:G:T 4911_2490_830_E->D 0.00479233 560 chr3:47451806:C:G 4911_2518_840_Q->E 0.000998403 560 chr3:47451846:C:T 4911_2558_853_P->L 0.000199681 560 chr3:47451863:G:C 4911_2575_859_G->R 0.000199681 560 chr3:47451920:C:T 4911_2632_878_R->W 0.000199681 560 chr3:47452070:G:A 4911_2782_928_A->T 0.000599042 560 chr3:47452118:G:A 4911_2830_944_A->T 0.345248 560 chr3:47452158:C:T 4911_2870_957_P->L 0.000199681 560 chr3:47452256:G:A 4911_2968_990_G->R 0.000199681 560 chr3:47452284:C:T 4911_2996_999_P->L 0.000199681 560 chr3:47452311:G:T 4911_3023_1008_G->V 0.000599042 560 chr3:47452331:C:T 4911_3043_1015_H->Y 0.000599042 560 chr3:47452355:G:A 4911_3067_1023_A->T 0.000199681 560 chr3:47452359:A:C 4911_3071_1024_Q->P 0.000199681 560 chr3:47452443:G:A 4911_3155_1052_G->D 0.000199681 560 chr3:47452572:G:C 4911_3284_1095_G->A 0.000199681 560 chr3:47452583:C:T 4911_3295_1099_P->S 0.00359425 560 chr3:47452586:C:T 4911_3298_1100_R->C 0.000599042 560 chr3:47452676:G:A 4911_3388_1130_G->S 0.00359425 560 chr3:47452772:C:T 4911_3484_1162_R->W 0.000998403 560 chr3:47452773:G:A 4911_3485_1162_R->Q 0.000199681 560 chr3:47452890:C:T 4911_3602_1201_A->V 0.000199681 560 chr3:47452902:A:G 4911_3614_1205_D->G 0.000199681 560 chr3:47452913:C:T 4911_3625_1209_R->C 0.000199681 560 chr3:47452914:G:A 4911_3626_1209_R->H 0.000199681 560 chr3:47452998:G:A 4911_3710_1237_R->H 0.000199681 560 chr3:47453061:C:T 4911_3773_1258_P->L 0.000199681 560 chr3:47453285:C:T 4911_3901_1301_R->C 0.000998403 560 chr3:47453286:G:A 4911_3902_1301_R->H 0.000199681 560 chr3:47453310:A:G 4911_3926_1309_Q->R 0.000199681 560 chr3:47453340:C:T 4911_3956_1319_A->V 0.00958466 560 chr3:47453372:G:A 4911_3988_1330_V->M 0.00119808 560 chr3:47453417:C:T 4911_4033_1345_R->C 0.000199681 560 chr3:47453418:G:A 4911_4034_1345_R->H 0.000199681 560 chr3:47453427:T:C 4911_4043_1348_V->A 0.000199681 560 chr3:47453616:G:A 4911_4106_1369_R->H 0.000399361 560 chr3:47453665:C:G 4911_4155_1385_H->Q 0.000199681 560 chr3:47453796:C:A 4911_4202_1401_A->D 0.000199681 560 chr3:47454061:C:T 4911_4375_1459_R->C 0.000199681 560 chr3:47454311:C:T 4911_4547_1516_P->L 0.000199681 560 chr3:47454314:T:C 4911_4550_1517_V->A 0.000199681 560 chr3:47454340:C:A 4911_4576_1526_P->T 0.00419329 560 chr3:47454344:C:T 4911_4580_1527_P->L 0.000199681 560 chr3:47454377:C:A 4911_4613_1538_T->N 0.000199681 560 chr3:47454382:A:G 4911_4618_1540_I->V 0.000998403 560 chr3:47454389:C:A 4911_4625_1542_S->Y 0.000199681 560 chr3:47454398:C:T 4911_4634_1545_P->L 0.00179712 560 chr3:47454400:C:T 4911_4636_1546_P->S 0.000599042 560 chr3:47454404:C:A 4911_4640_1547_P->H 0.000399361 560 chr3:47454419:T:C 4911_4655_1552_L->P 0.00339457 560 chr3:47454437:C:A 4911_4673_1558_P->H 0.000199681 560 chr3:47454473:C:T 4911_4709_1570_S->L 0.000199681 560 chr3:47454508:T:G 4911_4744_1582_S->A 0.000199681 560 chr3:47454548:G:C 4911_4784_1595_R->P 0.000199681 560 chr3:47454590:A:G 4911_4826_1609_H->R 0.000399361 560 na12878 Variants: 560 chr3:47452118:G:A 4911_2830_944_A->T 560 snyder Variants: 560 chr3:47452118:G:A 4911_2830_944_A->T 561 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000233276_ENST00000419783 gene_Name: GPX1_HUMAN 561 list of pdbs: 561 2F8A pdb_description: 13-Dec-05 X-ray 1.500 Crystal structure of the selenocysteine to glycine mutant of glutathione peroxidase 1 561 Zimmer Variants: 561 chr3:49394834:G:A 612_599_200_P->L;GENE=GPX1;CDSS=2 561 HGMD Variants: 561 chr3:49394834:G:A 612_599_200_P->L 561 oneKG Variants: 561 chr3:49394834:G:A 612_599_200_P->L 0.217452 561 chr3:49394853:C:T 612_580_194_A->T 0.0125799 561 chr3:49394938:C:A 612_495_165_E->D 0.000199681 561 chr3:49394993:G:C 612_440_147_P->R 0.000399361 561 chr3:49395118:G:C 612_315_105_F->L 0.000199681 561 chr3:49395461:T:C 612_251_84_Q->R 0.000199681 561 chr3:49395482:G:A 612_230_77_P->L 0.000399361 561 chr3:49395583:C:G 612_129_43_E->D 0.000199681 561 chr3:49395608:A:G 612_104_35_L->P 0.000199681 561 chr3:49395627:G:T 612_85_29_P->T 0.000399361 561 chr3:49395644:G:T 612_68_23_P->Q 0.00119808 561 chr3:49395698:C:G 612_14_5_R->P 0.0125799 561 na12878 Variants: 561 chr3:49394834:G:A 612_599_200_P->L 561 snyder Variants: 561 chr3:49394834:G:A 612_599_200_P->L 562 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000010322_ENST00000479054 gene_Name: NISCH_HUMAN 562 list of pdbs: 562 3P0C pdb_description: 13-Oct-10 X-ray 2.270 Nischarin px-domain 562 Zimmer Variants: 562 chr3:52523405:C:T 4515_3167_1056_A->V;GNEG=Yes;GENE=NISCH;CDSS=2 562 HGMD Variants: 562 chr3:52492846:C:G 4515_346_116_H->D 562 oneKG Variants: 562 chr3:52489664:A:G 4515_7_3_T->A 0.000199681 562 chr3:52489668:C:G 4515_11_4_A->G 0.000199681 562 chr3:52492681:G:A 4515_181_61_V->I 0.000199681 562 chr3:52504894:C:T 4515_380_127_A->V 0.000199681 562 chr3:52505834:A:T 4515_414_138_E->D 0.000199681 562 chr3:52505850:G:A 4515_430_144_G->S 0.000199681 562 chr3:52505866:T:C 4515_446_149_I->T 0.000199681 562 chr3:52505889:G:A 4515_469_157_V->I 0.00119808 562 chr3:52505893:C:T 4515_473_158_T->M 0.000399361 562 chr3:52505917:C:G 4515_497_166_P->R 0.000798722 562 chr3:52505935:A:G 4515_515_172_D->G 0.000199681 562 chr3:52506388:A:G 4515_643_215_I->V 0.000399361 562 chr3:52507769:A:G 4515_689_230_K->R 0.000599042 562 chr3:52507789:G:A 4515_709_237_A->T 0.000798722 562 chr3:52510541:G:A 4515_844_282_V->I 0.000199681 562 chr3:52510571:C:T 4515_874_292_L->F 0.000199681 562 chr3:52510592:G:A 4515_895_299_V->I 0.00639 562 chr3:52510604:G:A 4515_907_303_D->N 0.000199681 562 chr3:52512120:A:G 4515_995_332_Y->C 0.000199681 562 chr3:52512123:A:G 4515_998_333_N->S 0.000199681 562 chr3:52512246:A:G 4515_1121_374_H->R 0.0071885 562 chr3:52512279:G:A 4515_1154_385_R->Q 0.000199681 562 chr3:52512293:G:A 4515_1168_390_E->K 0.000199681 562 chr3:52513841:A:G 4515_1379_460_K->R 0.00519169 562 chr3:52519795:C:T 4515_1655_552_A->V 0.00379393 562 chr3:52519839:G:A 4515_1699_567_A->T 0.000199681 562 chr3:52521229:C:T 4515_1721_574_P->L 0.000199681 562 chr3:52521286:T:C 4515_1778_593_I->T 0.000399361 562 chr3:52521412:A:G 4515_1904_635_Q->R 0.00259585 562 chr3:52521453:G:A 4515_1945_649_V->M 0.000199681 562 chr3:52521522:G:A 4515_2014_672_E->K 0.00199681 562 chr3:52521548:T:G 4515_2040_680_D->E 0.000399361 562 chr3:52521549:G:A 4515_2041_681_E->K 0.000199681 562 chr3:52521556:C:G 4515_2048_683_A->G 0.000199681 562 chr3:52521624:C:T 4515_2116_706_R->C 0.000199681 562 chr3:52521865:A:G 4515_2357_786_H->R 0.000599042 562 chr3:52521879:C:T 4515_2371_791_L->F 0.000399361 562 chr3:52521954:A:G 4515_2446_816_M->V 0.000199681 562 chr3:52522059:C:T 4515_2551_851_R->C 0.000199681 562 chr3:52522060:G:A 4515_2552_851_R->H 0.000199681 562 chr3:52522104:C:T 4515_2596_866_R->C 0.000199681 562 chr3:52522138:G:A 4515_2630_877_G->D 0.000199681 562 chr3:52522143:A:G 4515_2635_879_I->V 0.000399361 562 chr3:52522183:G:A 4515_2675_892_R->H 0.000199681 562 chr3:52522218:G:A 4515_2710_904_A->T 0.000199681 562 chr3:52522221:G:A 4515_2713_905_A->T 0.000199681 562 chr3:52522287:A:G 4515_2779_927_M->V 0.000199681 562 chr3:52522297:G:A 4515_2789_930_R->H 0.0061901 562 chr3:52522320:C:T 4515_2812_938_R->C 0.000199681 562 chr3:52522348:C:T 4515_2840_947_P->L 0.000199681 562 chr3:52522443:C:T 4515_2935_979_R->C 0.000199681 562 chr3:52522494:C:T 4515_2986_996_R->C 0.000199681 562 chr3:52522495:G:A 4515_2987_996_R->H 0.000199681 562 chr3:52522512:C:T 4515_3004_1002_R->W 0.000199681 562 chr3:52522513:G:A 4515_3005_1002_R->Q 0.000199681 562 chr3:52522555:C:T 4515_3047_1016_T->I 0.000199681 562 chr3:52522560:G:A 4515_3052_1018_G->R 0.000199681 562 chr3:52522564:C:T 4515_3056_1019_T->M 0.000199681 562 chr3:52522591:C:T 4515_3083_1028_A->V 0.00698882 562 chr3:52523396:C:T 4515_3158_1053_P->L 0.000199681 562 chr3:52523405:C:T 4515_3167_1056_A->V 0.271765 562 chr3:52523414:C:T 4515_3176_1059_P->L 0.000199681 562 chr3:52523453:C:T 4515_3215_1072_A->V 0.000199681 562 chr3:52523507:C:T 4515_3269_1090_T->M 0.000199681 562 chr3:52523579:C:T 4515_3341_1114_A->V 0.000199681 562 chr3:52523606:C:T 4515_3368_1123_S->L 0.000199681 562 chr3:52524754:A:G 4515_3647_1216_N->S 0.000199681 562 chr3:52524840:C:T 4515_3733_1245_R->W 0.000199681 562 chr3:52524847:C:T 4515_3740_1247_T->M 0.000199681 562 chr3:52525466:C:T 4515_3841_1281_R->C 0.000199681 562 chr3:52525475:T:A 4515_3850_1284_S->T 0.000199681 562 chr3:52525476:C:T 4515_3851_1284_S->L 0.000199681 562 chr3:52525924:G:A 4515_3941_1314_R->H 0.000199681 562 chr3:52525944:A:G 4515_3961_1321_S->G 0.000199681 562 chr3:52526088:C:T 4515_4105_1369_R->C 0.000199681 562 chr3:52526143:G:A 4515_4160_1387_C->Y 0.000599042 562 chr3:52526218:G:A 4515_4235_1412_R->H 0.000399361 562 chr3:52526263:C:T 4515_4280_1427_P->L 0.000399361 562 chr3:52526356:C:T 4515_4373_1458_P->L 0.000399361 562 chr3:52526372:G:T 4515_4389_1463_Q->H 0.00459265 562 chr3:52526470:G:A 4515_4487_1496_R->H 0.000199681 562 na12878 Variants: 562 chr3:52523405:C:T 4515_3167_1056_A->V 562 snyder Variants: 562 chr3:52523405:C:T 4515_3167_1056_A->V 563 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000010322_ENST00000345716 gene_Name: NISCH_HUMAN 563 list of pdbs: 563 3P0C pdb_description: 13-Oct-10 X-ray 2.270 Nischarin px-domain 563 Zimmer Variants: 563 chr3:52523405:C:T 4515_3167_1056_A->V 563 HGMD Variants: 563 chr3:52492846:C:G 4515_346_116_H->D 563 oneKG Variants: 563 chr3:52489664:A:G 4515_7_3_T->A 0.000199681 563 chr3:52489668:C:G 4515_11_4_A->G 0.000199681 563 chr3:52492681:G:A 4515_181_61_V->I 0.000199681 563 chr3:52504894:C:T 4515_380_127_A->V 0.000199681 563 chr3:52505834:A:T 4515_414_138_E->D 0.000199681 563 chr3:52505850:G:A 4515_430_144_G->S 0.000199681 563 chr3:52505866:T:C 4515_446_149_I->T 0.000199681 563 chr3:52505889:G:A 4515_469_157_V->I 0.00119808 563 chr3:52505893:C:T 4515_473_158_T->M 0.000399361 563 chr3:52505917:C:G 4515_497_166_P->R 0.000798722 563 chr3:52505935:A:G 4515_515_172_D->G 0.000199681 563 chr3:52506388:A:G 4515_643_215_I->V 0.000399361 563 chr3:52507769:A:G 4515_689_230_K->R 0.000599042 563 chr3:52507789:G:A 4515_709_237_A->T 0.000798722 563 chr3:52510541:G:A 4515_844_282_V->I 0.000199681 563 chr3:52510571:C:T 4515_874_292_L->F 0.000199681 563 chr3:52510592:G:A 4515_895_299_V->I 0.00639 563 chr3:52510604:G:A 4515_907_303_D->N 0.000199681 563 chr3:52512120:A:G 4515_995_332_Y->C 0.000199681 563 chr3:52512123:A:G 4515_998_333_N->S 0.000199681 563 chr3:52512246:A:G 4515_1121_374_H->R 0.0071885 563 chr3:52512279:G:A 4515_1154_385_R->Q 0.000199681 563 chr3:52512293:G:A 4515_1168_390_E->K 0.000199681 563 chr3:52513841:A:G 4515_1379_460_K->R 0.00519169 563 chr3:52519795:C:T 4515_1655_552_A->V 0.00379393 563 chr3:52519839:G:A 4515_1699_567_A->T 0.000199681 563 chr3:52521229:C:T 4515_1721_574_P->L 0.000199681 563 chr3:52521286:T:C 4515_1778_593_I->T 0.000399361 563 chr3:52521412:A:G 4515_1904_635_Q->R 0.00259585 563 chr3:52521453:G:A 4515_1945_649_V->M 0.000199681 563 chr3:52521522:G:A 4515_2014_672_E->K 0.00199681 563 chr3:52521548:T:G 4515_2040_680_D->E 0.000399361 563 chr3:52521549:G:A 4515_2041_681_E->K 0.000199681 563 chr3:52521556:C:G 4515_2048_683_A->G 0.000199681 563 chr3:52521624:C:T 4515_2116_706_R->C 0.000199681 563 chr3:52521865:A:G 4515_2357_786_H->R 0.000599042 563 chr3:52521879:C:T 4515_2371_791_L->F 0.000399361 563 chr3:52521954:A:G 4515_2446_816_M->V 0.000199681 563 chr3:52522059:C:T 4515_2551_851_R->C 0.000199681 563 chr3:52522060:G:A 4515_2552_851_R->H 0.000199681 563 chr3:52522104:C:T 4515_2596_866_R->C 0.000199681 563 chr3:52522138:G:A 4515_2630_877_G->D 0.000199681 563 chr3:52522143:A:G 4515_2635_879_I->V 0.000399361 563 chr3:52522183:G:A 4515_2675_892_R->H 0.000199681 563 chr3:52522218:G:A 4515_2710_904_A->T 0.000199681 563 chr3:52522221:G:A 4515_2713_905_A->T 0.000199681 563 chr3:52522287:A:G 4515_2779_927_M->V 0.000199681 563 chr3:52522297:G:A 4515_2789_930_R->H 0.0061901 563 chr3:52522320:C:T 4515_2812_938_R->C 0.000199681 563 chr3:52522348:C:T 4515_2840_947_P->L 0.000199681 563 chr3:52522443:C:T 4515_2935_979_R->C 0.000199681 563 chr3:52522494:C:T 4515_2986_996_R->C 0.000199681 563 chr3:52522495:G:A 4515_2987_996_R->H 0.000199681 563 chr3:52522512:C:T 4515_3004_1002_R->W 0.000199681 563 chr3:52522513:G:A 4515_3005_1002_R->Q 0.000199681 563 chr3:52522555:C:T 4515_3047_1016_T->I 0.000199681 563 chr3:52522560:G:A 4515_3052_1018_G->R 0.000199681 563 chr3:52522564:C:T 4515_3056_1019_T->M 0.000199681 563 chr3:52522591:C:T 4515_3083_1028_A->V 0.00698882 563 chr3:52523396:C:T 4515_3158_1053_P->L 0.000199681 563 chr3:52523405:C:T 4515_3167_1056_A->V 0.271765 563 chr3:52523414:C:T 4515_3176_1059_P->L 0.000199681 563 chr3:52523453:C:T 4515_3215_1072_A->V 0.000199681 563 chr3:52523507:C:T 4515_3269_1090_T->M 0.000199681 563 chr3:52523579:C:T 4515_3341_1114_A->V 0.000199681 563 chr3:52523606:C:T 4515_3368_1123_S->L 0.000199681 563 chr3:52524754:A:G 4515_3647_1216_N->S 0.000199681 563 chr3:52524840:C:T 4515_3733_1245_R->W 0.000199681 563 chr3:52524847:C:T 4515_3740_1247_T->M 0.000199681 563 chr3:52525466:C:T 4515_3841_1281_R->C 0.000199681 563 chr3:52525475:T:A 4515_3850_1284_S->T 0.000199681 563 chr3:52525476:C:T 4515_3851_1284_S->L 0.000199681 563 chr3:52525924:G:A 4515_3941_1314_R->H 0.000199681 563 chr3:52525944:A:G 4515_3961_1321_S->G 0.000199681 563 chr3:52526088:C:T 4515_4105_1369_R->C 0.000199681 563 chr3:52526143:G:A 4515_4160_1387_C->Y 0.000599042 563 chr3:52526218:G:A 4515_4235_1412_R->H 0.000399361 563 chr3:52526263:C:T 4515_4280_1427_P->L 0.000399361 563 chr3:52526356:C:T 4515_4373_1458_P->L 0.000399361 563 chr3:52526372:G:T 4515_4389_1463_Q->H 0.00459265 563 chr3:52526470:G:A 4515_4487_1496_R->H 0.000199681 563 na12878 Variants: 563 chr3:52523405:C:T 4515_3167_1056_A->V 563 snyder Variants: 563 chr3:52523405:C:T 4515_3167_1056_A->V 564 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114480_ENST00000429644 gene_Name: GLGB_HUMAN 564 list of pdbs: 564 4BZY pdb_description: 25-Sep-13 X-ray 2.750 Crystal structure of human glycogen branching enzyme (gbe1) 564 Zimmer Variants: 564 chr3:81643167:T:C 2109_1000_334_I->V 564 HGMD Variants: 564 chr3:81584371:G:A 2109_1909_637_R->* 564 chr3:81586091:C:A 2109_1774_592_E->* 564 chr3:81586222:C:T 2109_1643_548_W->* 564 chr3:81627124:G:A 2109_1570_524_R->* 564 chr3:81692029:C:A 2109_895_299_G->* 564 chr3:81699048:C:A 2109_454_152_E->* 564 chr3:81539598:C:G 2109_2069_690_R->T 564 chr3:81584397:T:C 2109_1883_628_H->R 564 chr3:81586171:C:T 2109_1694_565_R->Q 564 chr3:81586199:T:A 2109_1666_556_N->Y 564 chr3:81586210:G:A 2109_1655_552_P->L 564 chr3:81586231:T:C 2109_1634_545_H->R 564 chr3:81586244:T:C 2109_1621_541_N->D 564 chr3:81627090:T:C 2109_1604_535_Y->C 564 chr3:81627093:C:A 2109_1601_534_G->V 564 chr3:81627123:C:T 2109_1571_524_R->Q 564 chr3:81627133:T:C 2109_1561_521_K->E 564 chr3:81627150:C:T 2109_1544_515_R->H 564 chr3:81627151:G:A 2109_1543_515_R->C 564 chr3:81627210:A:G 2109_1484_495_M->T 564 chr3:81635299:C:T 2109_1279_427_G->R 564 chr3:81635341:C:G 2109_1237_413_D->H 564 chr3:81640290:A:C 2109_1134_378_S->R 564 chr3:81643103:C:T 2109_1064_355_R->H 564 chr3:81643109:C:G 2109_1058_353_G->A 564 chr3:81691938:T:C 2109_986_329_Y->C 564 chr3:81691938:T:G 2109_986_329_Y->S 564 chr3:81691968:T:C 2109_956_319_H->R 564 chr3:81691969:G:A 2109_955_319_H->Y 564 chr3:81692140:G:A 2109_784_262_R->C 564 chr3:81695554:A:T 2109_771_257_F->L 564 chr3:81695597:T:C 2109_728_243_H->R 564 chr3:81695601:C:G 2109_724_242_E->Q 564 chr3:81695617:C:G 2109_708_236_Q->H 564 chr3:81698027:A:G 2109_671_224_L->P 564 chr3:81698135:T:G 2109_563_188_H->P 564 chr3:81810551:G:T 2109_118_40_P->T 564 oneKG Variants: 564 chr3:81539593:C:T 2109_2074_692_A->T 0.000599042 564 chr3:81548278:G:A 2109_2035_679_R->C 0.00119808 564 chr3:81548296:C:T 2109_2017_673_A->T 0.00359425 564 chr3:81548353:C:T 2109_1960_654_A->T 0.000199681 564 chr3:81584380:T:C 2109_1900_634_T->A 0.000199681 564 chr3:81584403:T:C 2109_1877_626_N->S 0.000998403 564 chr3:81584432:A:C 2109_1848_616_F->L 0.000199681 564 chr3:81584451:C:T 2109_1829_610_G->D 0.000199681 564 chr3:81584466:C:T 2109_1814_605_S->N 0.000199681 564 chr3:81586067:G:A 2109_1798_600_P->S 0.000199681 564 chr3:81586106:T:C 2109_1759_587_M->V 0.000199681 564 chr3:81586139:G:A 2109_1726_576_R->C 0.000199681 564 chr3:81586218:T:G 2109_1647_549_L->F 0.000199681 564 chr3:81586229:G:T 2109_1636_546_P->T 0.000199681 564 chr3:81627169:A:G 2109_1525_509_F->L 0.000199681 564 chr3:81627175:T:C 2109_1519_507_T->A 0.0760783 564 chr3:81630366:T:A 2109_1396_466_N->Y 0.000199681 564 chr3:81635317:A:G 2109_1261_421_C->R 0.000199681 564 chr3:81640259:C:A 2109_1165_389_A->S 0.000199681 564 chr3:81640290:A:C 2109_1134_378_S->R 0.00239617 564 chr3:81643119:G:A 2109_1048_350_R->C 0.000199681 564 chr3:81643167:T:C 2109_1000_334_I->V 0.016374 564 chr3:81691938:T:C 2109_986_329_Y->C 0.000199681 564 chr3:81692052:T:C 2109_872_291_H->R 0.000199681 564 chr3:81692065:C:G 2109_859_287_V->L 0.00259585 564 chr3:81692085:C:T 2109_839_280_G->D 0.00319489 564 chr3:81692097:G:C 2109_827_276_A->G 0.000199681 564 chr3:81692116:G:T 2109_808_270_Q->K 0.000199681 564 chr3:81698013:C:A 2109_685_229_G->C 0.000199681 564 chr3:81698058:C:T 2109_640_214_A->T 0.000199681 564 chr3:81698130:T:C 2109_568_190_R->G 0.321486 564 chr3:81698976:T:A 2109_526_176_I->L 0.000399361 564 chr3:81699000:C:A 2109_502_168_G->C 0.000199681 564 chr3:81720012:C:T 2109_406_136_V->M 0.000399361 564 chr3:81720068:A:G 2109_350_117_L->P 0.00119808 564 chr3:81720072:T:C 2109_346_116_K->E 0.000199681 564 chr3:81754712:T:C 2109_196_66_I->V 0.000199681 564 chr3:81754732:A:G 2109_176_59_I->T 0.00259585 564 chr3:81754733:T:C 2109_175_59_I->V 0.000199681 564 chr3:81754738:T:C 2109_170_57_K->R 0.000599042 564 chr3:81810529:C:T 2109_140_47_R->H 0.000399361 564 chr3:81810551:G:T 2109_118_40_P->T 0.00519169 564 chr3:81810578:G:A 2109_91_31_L->F 0.000199681 564 chr3:81810595:A:C 2109_74_25_V->G 0.000399361 564 na12878 Variants: 564 chr3:81643167:T:C 2109_1000_334_I->V 564 chr3:81698130:T:C 2109_568_190_R->G 564 snyder Variants: 564 chr3:81643167:T:C 2109_1000_334_I->V 564 chr3:81698130:T:C 2109_568_190_R->G 565 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114026_ENST00000302003 gene_Name: OGG1_HUMAN 565 list of pdbs: 565 3KTU pdb_description: 14-Jul-10 X-ray 2.300 Structure of human 8-oxoguanine glycosylase 1 bound to fluor oxog-containing DNA 565 3IH7 pdb_description: 03-Nov-10 X-ray 3.100 Crystal structure of catalytically active human 8-oxoguanine glycosylase distally crosslinked to guanine-containing DNA 565 2XHI pdb_description: 26-Jan-11 X-ray 1.550 Separation-of-function mutants unravel the dual reaction mode of human 8-oxoguanine DNA glycosylase 565 2NOZ pdb_description: 21-Nov-06 X-ray 2.430 Structure of q315f human 8-oxoguanine glycosylase distal crosslink to 8-oxoguanine DNA 565 2NOL pdb_description: 21-Nov-06 X-ray 2.570 Structure of catalytically inactive human 8-oxoguanine glycosylase distal crosslink to oxog DNA 565 2NOI pdb_description: 21-Nov-06 X-ray 2.350 Structure of g42a human 8-oxoguanine glycosylase crosslinked to undamaged g-containing DNA 565 2NOH pdb_description: 21-Nov-06 X-ray 2.010 Structure of catalytically inactive q315a human 8- oxoguanine glycosylase complexed to 8-oxoguanine DNA 565 2NOF pdb_description: 21-Nov-06 X-ray 2.350 Structure of q315f human 8-oxoguanine glycosylase proximal crosslink to 8-oxoguanine DNA 565 2NOE pdb_description: 21-Nov-06 X-ray 2.200 Structure of catalytically inactive g42a human 8-oxoguanine glycosylase complexed to 8-oxoguanine DNA 565 2NOB pdb_description: 21-Nov-06 X-ray 2.100 Structure of catalytically inactive h270a human 8- oxoguanine glycosylase crosslinked to 8-oxoguanine DNA 565 2I5W pdb_description: 17-Oct-06 X-ray 2.600 Structure of hogg1 crosslinked to DNA sampling a normal g ad an oxog 565 1YQR pdb_description: 05-Apr-05 X-ray 2.430 Catalytically inactive human 8-oxoguanine glycosylase crosslinked to oxog containing DNA 565 1YQM pdb_description: 05-Apr-05 X-ray 2.500 Catalytically inactive human 8-oxoguanine glycosylase crosslinked to 7-deazaguanine containing DNA 565 1YQL pdb_description: 05-Apr-05 X-ray 2.600 Catalytically inactive hogg1 crosslinked with 7-deaza-8- azaguanine containing DNA 565 1YQK pdb_description: 05-Apr-05 X-ray 2.500 Human 8-oxoguanine glycosylase crosslinked with guanine cont 565 1N3C pdb_description: 04-Mar-03 X-ray 2.700 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 565 1N3A pdb_description: 04-Mar-03 X-ray 2.200 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 565 1N39 pdb_description: 04-Mar-03 X-ray 2.200 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 565 1M3Q pdb_description: 17-Feb-04 X-ray 1.900 Crystal structure of hogg1 d268e mutant with base-excised DNA and 8-aminoguanine 565 1M3H pdb_description: 20-Apr-04 X-ray 2.050 Crystal structure of hogg1 d268e mutant with product oligonucleotide 565 1LWY pdb_description: 25-Feb-03 X-ray 2.010 Hogg1 borohydride-trapped intermediate without 8-oxoguanine 565 1LWW pdb_description: 25-Feb-03 X-ray 2.100 Borohydride-trapped hogg1 intermediate structure co- crystallized with 8-bromoguanine 565 1LWV pdb_description: 25-Feb-03 X-ray 2.300 Borohydride-trapped hogg1 intermediate structure co- crystallized with 8-aminoguanine 565 1KO9 pdb_description: 09-Jan-02 X-ray 2.150 Native structure of the human 8-oxoguanine DNA glycosylase hogg1 565 1HU0 pdb_description: 25-Feb-03 X-ray 2.350 Crystal structure of an hogg1-DNA borohydride trapped intermediate complex 565 1FN7 pdb_description: 21-Apr-01 X-ray 2.600 Coupling of damage recognition and catalysis by a human base-excision DNA repair protein 565 1EBM pdb_description: 20-Mar-00 X-ray 2.100 Crystal structure of the human 8-oxoguanine glycosylase (hogg1) bound to a substrate oligonucleotide 565 Zimmer Variants: 565 chr3:9798773:C:G 1233_994_332_P->A 565 HGMD Variants: 565 chr3:9791999:G:T 1233_29_10_R->L 565 chr3:9792107:G:A 1233_137_46_R->Q 565 chr3:9792107:G:A 1233_137_46_R->Q 565 chr3:9792648:G:A 1233_157_53_A->T 565 chr3:9792744:G:T 1233_253_85_A->S 565 chr3:9793460:G:A 1233_392_131_R->Q 565 chr3:9793529:G:A 1233_461_154_R->H 565 chr3:9796508:G:A 1233_686_229_R->Q 565 chr3:9798167:A:T 1233_760_254_I->F 565 chr3:9798209:G:A 1233_802_268_D->N 565 chr3:9798245:A:G 1233_838_280_S->G 565 chr3:9798270:C:T 1233_863_288_A->V 565 chr3:9798475:G:A 1233_923_308_G->E 565 chr3:9798773:C:G 1233_994_332_P->A 565 oneKG Variants: 565 chr3:9798797:C:T 1233_1018_340_Q->* 0.000399361 565 chr3:9792002:T:A 1233_32_11_M->K 0.000199681 565 chr3:9792107:G:A 1233_137_46_R->Q 0.000599042 565 chr3:9792699:G:A 1233_208_70_E->K 0.000399361 565 chr3:9792726:C:G 1233_235_79_R->G 0.000599042 565 chr3:9792744:G:T 1233_253_85_A->S 0.000599042 565 chr3:9793474:G:A 1233_406_136_D->N 0.000199681 565 chr3:9793525:G:A 1233_457_153_A->T 0.000199681 565 chr3:9793529:G:A 1233_461_154_R->H 0.000798722 565 chr3:9793597:A:T 1233_529_177_T->S 0.000399361 565 chr3:9793601:A:G 1233_533_178_Y->C 0.000199681 565 chr3:9796405:C:T 1233_583_195_H->Y 0.000199681 565 chr3:9796439:G:A 1233_617_206_R->H 0.000199681 565 chr3:9796499:A:C 1233_677_226_Q->P 0.000199681 565 chr3:9796508:G:A 1233_686_229_R->Q 0.028155 565 chr3:9796510:G:C 1233_688_230_E->Q 0.00119808 565 chr3:9798197:G:C 1233_790_264_A->P 0.000199681 565 chr3:9798270:C:T 1233_863_288_A->V 0.000998403 565 chr3:9798451:G:A 1233_899_300_G->E 0.000199681 565 chr3:9798475:G:A 1233_923_308_G->E 0.00179712 565 chr3:9798478:C:G 1233_926_309_P->R 0.000199681 565 chr3:9798740:T:C 1233_961_321_Y->H 0.000399361 565 chr3:9798755:G:A 1233_976_326_V->M 0.000199681 565 chr3:9798759:C:T 1233_980_327_P->L,1 0.000199681 565 chr3:9798767:G:A 1233_988_330_A->T 0.000199681 565 chr3:9798771:A:G 1233_992_331_N->S,1 0.000199681 565 chr3:9798773:C:G 1233_994_332_P->A 0.302117 565 chr3:9798803:G:A 1233_1024_342_A->T 0.000399361 565 chr3:9798821:G:A 1233_1042_348_G->S 0.000199681 565 chr3:9798876:C:A 1233_1097_366_P->H 0.000199681 565 chr3:9798896:T:C 1233_1117_373_S->P 0.000199681 565 chr3:9798923:G:T 1233_1144_382_G->W 0.000199681 565 na12878 Variants: 565 chr3:9798773:C:G 1233_994_332_P->A 565 snyder Variants: 565 chr3:9798773:C:G 1233_994_332_P->A 566 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000114026_ENST00000344629 gene_Name: OGG1_HUMAN 566 list of pdbs: 566 3KTU pdb_description: 14-Jul-10 X-ray 2.300 Structure of human 8-oxoguanine glycosylase 1 bound to fluor oxog-containing DNA 566 3IH7 pdb_description: 03-Nov-10 X-ray 3.100 Crystal structure of catalytically active human 8-oxoguanine glycosylase distally crosslinked to guanine-containing DNA 566 2XHI pdb_description: 26-Jan-11 X-ray 1.550 Separation-of-function mutants unravel the dual reaction mode of human 8-oxoguanine DNA glycosylase 566 2NOZ pdb_description: 21-Nov-06 X-ray 2.430 Structure of q315f human 8-oxoguanine glycosylase distal crosslink to 8-oxoguanine DNA 566 2NOL pdb_description: 21-Nov-06 X-ray 2.570 Structure of catalytically inactive human 8-oxoguanine glycosylase distal crosslink to oxog DNA 566 2NOI pdb_description: 21-Nov-06 X-ray 2.350 Structure of g42a human 8-oxoguanine glycosylase crosslinked to undamaged g-containing DNA 566 2NOH pdb_description: 21-Nov-06 X-ray 2.010 Structure of catalytically inactive q315a human 8- oxoguanine glycosylase complexed to 8-oxoguanine DNA 566 2NOF pdb_description: 21-Nov-06 X-ray 2.350 Structure of q315f human 8-oxoguanine glycosylase proximal crosslink to 8-oxoguanine DNA 566 2NOE pdb_description: 21-Nov-06 X-ray 2.200 Structure of catalytically inactive g42a human 8-oxoguanine glycosylase complexed to 8-oxoguanine DNA 566 2NOB pdb_description: 21-Nov-06 X-ray 2.100 Structure of catalytically inactive h270a human 8- oxoguanine glycosylase crosslinked to 8-oxoguanine DNA 566 2I5W pdb_description: 17-Oct-06 X-ray 2.600 Structure of hogg1 crosslinked to DNA sampling a normal g ad an oxog 566 1YQR pdb_description: 05-Apr-05 X-ray 2.430 Catalytically inactive human 8-oxoguanine glycosylase crosslinked to oxog containing DNA 566 1YQM pdb_description: 05-Apr-05 X-ray 2.500 Catalytically inactive human 8-oxoguanine glycosylase crosslinked to 7-deazaguanine containing DNA 566 1YQL pdb_description: 05-Apr-05 X-ray 2.600 Catalytically inactive hogg1 crosslinked with 7-deaza-8- azaguanine containing DNA 566 1YQK pdb_description: 05-Apr-05 X-ray 2.500 Human 8-oxoguanine glycosylase crosslinked with guanine cont 566 1N3C pdb_description: 04-Mar-03 X-ray 2.700 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 566 1N3A pdb_description: 04-Mar-03 X-ray 2.200 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 566 1N39 pdb_description: 04-Mar-03 X-ray 2.200 Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase 566 1M3Q pdb_description: 17-Feb-04 X-ray 1.900 Crystal structure of hogg1 d268e mutant with base-excised DNA and 8-aminoguanine 566 1M3H pdb_description: 20-Apr-04 X-ray 2.050 Crystal structure of hogg1 d268e mutant with product oligonucleotide 566 1LWY pdb_description: 25-Feb-03 X-ray 2.010 Hogg1 borohydride-trapped intermediate without 8-oxoguanine 566 1LWW pdb_description: 25-Feb-03 X-ray 2.100 Borohydride-trapped hogg1 intermediate structure co- crystallized with 8-bromoguanine 566 1LWV pdb_description: 25-Feb-03 X-ray 2.300 Borohydride-trapped hogg1 intermediate structure co- crystallized with 8-aminoguanine 566 1KO9 pdb_description: 09-Jan-02 X-ray 2.150 Native structure of the human 8-oxoguanine DNA glycosylase hogg1 566 1HU0 pdb_description: 25-Feb-03 X-ray 2.350 Crystal structure of an hogg1-DNA borohydride trapped intermediate complex 566 1FN7 pdb_description: 21-Apr-01 X-ray 2.600 Coupling of damage recognition and catalysis by a human base-excision DNA repair protein 566 1EBM pdb_description: 20-Mar-00 X-ray 2.100 Crystal structure of the human 8-oxoguanine glycosylase (hogg1) bound to a substrate oligonucleotide 566 Zimmer Variants: 566 chr3:9798773:C:G 1038_977_326_S->C;HUB=PPI;GENE=OGG1;CANG=[DNA_repair];CDSS=2 566 HGMD Variants: 566 chr3:9791999:G:T 1038_29_10_R->L 566 chr3:9792107:G:A 1038_137_46_R->Q 566 chr3:9792107:G:A 1038_137_46_R->Q 566 chr3:9792648:G:A 1038_157_53_A->T 566 chr3:9792744:G:T 1038_253_85_A->S 566 chr3:9793460:G:A 1038_392_131_R->Q 566 chr3:9793529:G:A 1038_461_154_R->H 566 chr3:9796508:G:A 1038_686_229_R->Q 566 chr3:9798167:A:T 1038_760_254_I->F 566 chr3:9798209:G:A 1038_802_268_D->N 566 chr3:9798245:A:G 1038_838_280_S->G 566 chr3:9798270:C:T 1038_863_288_A->V 566 chr3:9798475:G:A 1038_923_308_G->E 566 chr3:9798760:G:A 1038_964_322_D->N,1 566 chr3:9798773:C:G 1038_977_326_S->C 566 oneKG Variants: 566 chr3:9792002:T:A 1038_32_11_M->K 0.000199681 566 chr3:9792107:G:A 1038_137_46_R->Q 0.000599042 566 chr3:9792699:G:A 1038_208_70_E->K 0.000399361 566 chr3:9792726:C:G 1038_235_79_R->G 0.000599042 566 chr3:9792744:G:T 1038_253_85_A->S 0.000599042 566 chr3:9793474:G:A 1038_406_136_D->N 0.000199681 566 chr3:9793525:G:A 1038_457_153_A->T 0.000199681 566 chr3:9793529:G:A 1038_461_154_R->H 0.000798722 566 chr3:9793597:A:T 1038_529_177_T->S 0.000399361 566 chr3:9793601:A:G 1038_533_178_Y->C 0.000199681 566 chr3:9796405:C:T 1038_583_195_H->Y 0.000199681 566 chr3:9796439:G:A 1038_617_206_R->H 0.000199681 566 chr3:9796499:A:C 1038_677_226_Q->P 0.000199681 566 chr3:9796508:G:A 1038_686_229_R->Q 0.028155 566 chr3:9796510:G:C 1038_688_230_E->Q 0.00119808 566 chr3:9798197:G:C 1038_790_264_A->P 0.000199681 566 chr3:9798270:C:T 1038_863_288_A->V 0.000998403 566 chr3:9798451:G:A 1038_899_300_G->E 0.000199681 566 chr3:9798475:G:A 1038_923_308_G->E 0.00179712 566 chr3:9798478:C:G 1038_926_309_P->R 0.000199681 566 chr3:9798755:G:A 1038_959_320_S->N 0.000199681 566 chr3:9798760:G:A 1038_964_322_D->N,1 0.000399361 566 chr3:9798767:G:A 1038_971_324_R->H 0.000199681 566 chr3:9798773:C:G 1038_977_326_S->C 0.302117 566 chr3:9798797:C:T 1038_1001_334_A->V,1 0.000399361 566 chr3:9798803:G:A 1038_1007_336_R->H 0.000399361 566 chr3:9798821:G:A 1038_1025_342_G->E 0.000199681 566 na12878 Variants: 566 chr3:9798773:C:G 1038_977_326_S->C 566 snyder Variants: 566 chr3:9798773:C:G 1038_977_326_S->C 567 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000205403_ENST00000394634 gene_Name: CFAI_HUMAN 567 list of pdbs: 567 2XRC pdb_description: 13-Jul-11 X-ray 2.690 Human complement factor i 567 Zimmer Variants: 567 chr4:110678925:T:C 1752_898_300_T->A 567 HGMD Variants: 567 chr4:110662063:G:A 1752_1738_580_Q->* 567 chr4:110662164:C:T 1752_1637_546_W->* 567 chr4:110662178:C:T 1752_1623_541_W->* 567 chr4:110662179:C:T 1752_1622_541_W->* 567 chr4:110667387:G:A 1752_1420_474_R->* 567 chr4:110670462:G:A 1752_1060_354_Q->* 567 chr4:110682772:G:A 1752_559_187_R->* 567 chr4:110685741:C:T 1752_434_145_W->* 567 chr4:110662068:A:G 1752_1733_578_I->T 567 chr4:110662140:T:A 1752_1661_554_E->V 567 chr4:110662144:G:A 1752_1657_553_P->S 567 chr4:110662173:A:G 1752_1628_543_V->A 567 chr4:110662230:T:A 1752_1571_524_D->V 567 chr4:110662236:T:G 1752_1565_522_K->T 567 chr4:110662246:C:T 1752_1555_519_D->N 567 chr4:110663647:C:T 1752_1534_512_G->S 567 chr4:110663677:G:A 1752_1504_502_R->C 567 chr4:110663707:T:G 1752_1474_492_I->L 567 chr4:110663722:C:A 1752_1459_487_G->C 567 chr4:110667378:C:G 1752_1429_477_D->H 567 chr4:110667408:A:G 1752_1399_467_C->R 567 chr4:110667431:T:G 1752_1376_459_Y->S 567 chr4:110667440:C:A 1752_1367_456_W->L 567 chr4:110667485:T:C 1752_1322_441_K->R 567 chr4:110667510:T:C 1752_1297_433_I->V 567 chr4:110667516:C:T 1752_1291_431_A->T 567 chr4:110667536:C:T 1752_1271_424_G->D 567 chr4:110667554:T:A 1752_1253_418_H->L 567 chr4:110667561:T:G 1752_1246_416_I->L 567 chr4:110667573:C:T 1752_1234_412_V->M 567 chr4:110667590:C:T 1752_1217_406_R->H 567 chr4:110667591:G:A 1752_1216_406_R->C 567 chr4:110667600:C:T 1752_1207_403_D->N 567 chr4:110667603:G:A 1752_1204_402_P->S 567 chr4:110667612:A:G 1752_1195_399_W->R 567 chr4:110667641:C:T 1752_1166_389_R->H 567 chr4:110670400:C:A 1752_1122_374_W->C 567 chr4:110670416:T:G 1752_1106_369_Y->S 567 chr4:110670451:A:C 1752_1071_357_I->M 567 chr4:110670477:C:T 1752_1045_349_G->R 567 chr4:110670665:C:T 1752_1034_345_R->Q 567 chr4:110670674:C:T 1752_1025_342_G->E 567 chr4:110670680:A:G 1752_1019_340_I->T 567 chr4:110670720:A:G 1752_979_327_C->R 567 chr4:110670749:C:T 1752_950_317_R->Q 567 chr4:110670750:G:A 1752_949_317_R->W 567 chr4:110673634:G:T 1752_930_310_D->E 567 chr4:110673647:A:C 1752_917_306_I->S 567 chr4:110673648:T:C 1752_916_306_I->V 567 chr4:110681443:T:A 1752_866_289_D->V 567 chr4:110681450:C:T 1752_859_287_G->R 567 chr4:110681470:C:T 1752_839_280_G->D 567 chr4:110681506:G:A 1752_803_268_S->L 567 chr4:110681521:C:A 1752_788_263_G->V 567 chr4:110681527:C:T 1752_782_261_G->D 567 chr4:110681679:C:T 1752_772_258_A->T 567 chr4:110681679:C:T 1752_772_258_A->T 567 chr4:110681687:C:T 1752_764_255_C->Y 567 chr4:110681703:G:T 1752_748_250_Q->K 567 chr4:110681708:C:T 1752_743_248_G->E 567 chr4:110681712:A:C 1752_739_247_C->G 567 chr4:110681732:G:C 1752_719_240_A->G 567 chr4:110681762:A:T 1752_689_230_V->E 567 chr4:110681763:C:T 1752_688_230_V->M 567 chr4:110681766:A:G 1752_685_229_C->R 567 chr4:110681781:C:T 1752_670_224_D->N 567 chr4:110681789:G:T 1752_662_221_S->Y 567 chr4:110682715:A:T 1752_616_206_Y->N 567 chr4:110682723:G:A 1752_608_203_T->I 567 chr4:110682728:T:G 1752_603_201_R->S 567 chr4:110682739:A:G 1752_592_198_F->L 567 chr4:110682744:C:G 1752_587_196_C->S 567 chr4:110682768:C:A 1752_563_188_G->V 567 chr4:110682768:C:G 1752_563_188_G->A 567 chr4:110682771:C:T 1752_560_187_R->Q 567 chr4:110682783:T:C 1752_548_183_H->R 567 chr4:110682801:T:A 1752_530_177_N->I 567 chr4:110682840:T:A 1752_491_164_D->V 567 chr4:110682846:C:T 1752_485_162_G->D 567 chr4:110685721:C:T 1752_454_152_V->M 567 chr4:110685723:T:C 1752_452_151_N->S 567 chr4:110685761:C:A 1752_414_138_M->I 567 chr4:110685763:T:C 1752_412_138_M->V 567 chr4:110685795:A:G 1752_380_127_V->A 567 chr4:110685820:C:T 1752_355_119_G->R 567 chr4:110685822:T:C 1752_353_118_H->R 567 chr4:110687712:T:G 1752_326_109_E->A 567 chr4:110687769:C:T 1752_269_90_S->N 567 chr4:110687823:G:C 1752_215_72_T->S 567 chr4:110687826:C:A 1752_212_71_G->V 567 chr4:110687847:G:A 1752_191_64_P->L 567 chr4:110687890:G:C 1752_148_50_P->A 567 chr4:110687908:C:T 1752_130_44_D->N 567 chr4:110687910:C:A 1752_128_43_C->F 567 chr4:110687919:T:C 1752_119_40_H->R 567 oneKG Variants: 567 chr4:110662053:A:G 1752_1748_583_V->A 0.000199681 567 chr4:110662075:G:A 1752_1726_576_P->S 0.000199681 567 chr4:110662120:T:C 1752_1681_561_K->E 0.000199681 567 chr4:110662144:G:A 1752_1657_553_P->S 0.000399361 567 chr4:110662159:C:G 1752_1642_548_E->Q 0.00279553 567 chr4:110663683:C:T 1752_1498_500_G->R 0.000399361 567 chr4:110663716:C:T 1752_1465_489_V->I 0.000199681 567 chr4:110667464:C:T 1752_1343_448_R->H 0.000199681 567 chr4:110667485:T:C 1752_1322_441_K->R 0.00119808 567 chr4:110667492:C:T 1752_1315_439_G->R 0.000199681 567 chr4:110667539:G:T 1752_1268_423_A->E 0.000399361 567 chr4:110667561:T:G 1752_1246_416_I->L 0.00279553 567 chr4:110667590:C:T 1752_1217_406_R->H 0.038139 567 chr4:110667591:G:A 1752_1216_406_R->C 0.000199681 567 chr4:110667626:G:A 1752_1181_394_T->I 0.000199681 567 chr4:110670451:A:C 1752_1071_357_I->M 0.000199681 567 chr4:110670702:T:C 1752_997_333_M->V 0.000199681 567 chr4:110670720:A:G 1752_979_327_C->R 0.000199681 567 chr4:110673639:C:A 1752_925_309_A->S 0.000199681 567 chr4:110673648:T:C 1752_916_306_I->V 0.00119808 567 chr4:110673657:C:T 1752_907_303_E->K 0.000199681 567 chr4:110678925:T:C 1752_898_300_T->A 0.033147 567 chr4:110681450:C:T 1752_859_287_G->R 0.000199681 567 chr4:110681522:C:T 1752_787_263_G->S 0.000199681 567 chr4:110681527:C:T 1752_782_261_G->D 0.000399361 567 chr4:110681720:A:C 1752_731_244_I->S 0.000199681 567 chr4:110681721:T:C 1752_730_244_I->V 0.000199681 567 chr4:110681781:C:T 1752_670_224_D->N 0.000199681 567 chr4:110682719:C:T 1752_612_204_M->I 0.000199681 567 chr4:110682723:G:A 1752_608_203_T->I 0.000399361 567 chr4:110682728:T:G 1752_603_201_R->S 0.000998403 567 chr4:110682761:C:A 1752_570_190_E->D 0.000199681 567 chr4:110682783:T:C 1752_548_183_H->R 0.00159744 567 chr4:110682829:T:C 1752_502_168_R->G 0.000599042 567 chr4:110682846:C:T 1752_485_162_G->D 0.000199681 567 chr4:110685842:C:G 1752_333_111_K->N 0.000199681 567 chr4:110687719:T:C 1752_319_107_T->A 0.000199681 567 chr4:110687728:C:T 1752_310_104_G->R 0.000599042 567 chr4:110687877:C:A 1752_161_54_C->F 0.000199681 567 chr4:110687890:G:C 1752_148_50_P->A 0.000199681 567 chr4:110687973:T:C 1752_65_22_Y->C 0.000199681 567 chr4:110723117:A:T 1752_11_4_L->H 0.000199681 567 na12878 Variants: 567 chr4:110678925:T:C 1752_898_300_T->A 567 snyder Variants: 567 chr4:110678925:T:C 1752_898_300_T->A 568 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138798_ENST00000509793 gene_Name: EGF_HUMAN 568 list of pdbs: 568 2KV4 pdb_description: 23-Feb-11 NMR 10 Egf 568 1P9J pdb_description: 07-Oct-03 NMR 36 Solution structure and dynamics of the egf/tgf-alpha chimera t1e 568 1JL9 pdb_description: 24-Oct-01 X-ray 3.000 Crystal structure of human epidermal growth factor 568 3NJP pdb_description: 13-Oct-10 X-ray 3.300 The extracellular and transmembrane domain interfaces in epi growth factor receptor signaling 568 1NQL pdb_description: 11-Mar-03 X-ray 2.800 Structure of the extracellular domain of human epidermal gro (egf) receptor in an inactive (low ph) complex with egf. 568 1IVO pdb_description: 16-Oct-02 X-ray 3.300 Crystal structure of the complex of human epidermal growth f receptor extracellular domains. 568 Zimmer Variants: 568 chr4:110901198:G:A 3498_1998_666_M->I;HUB=PPI;GENE=EGF;CDSS=2 568 chr4:110914427:A:T 3498_2633_878_E->V;HUB=PPI;GENE=EGF;CDSS=2 568 HGMD Variants: 568 chr4:110902111:A:T 3498_2225_742_D->V 568 chr4:110925696:C:T 3498_3083_1028_P->L 568 oneKG Variants: 568 chr4:110882136:C:T 3498_1054_352_R->* 0.000199681 568 chr4:110897367:C:T 3498_1903_635_R->* 0.000399361 568 chr4:110925770:C:T 3498_3157_1053_Q->* 0.000199681 568 chr4:110932474:C:T 3498_3361_1121_R->* 0.000199681 568 chr4:110834507:A:G 3498_16_6_I->V 0.000399361 568 chr4:110834508:T:C 3498_17_6_I->T 0.000199681 568 chr4:110834537:A:C 3498_46_16_S->R 0.00499201 568 chr4:110834591:G:A 3498_100_34_A->T 0.000199681 568 chr4:110862208:C:G 3498_234_78_I->M 0.000199681 568 chr4:110862273:G:T 3498_299_100_R->I 0.000199681 568 chr4:110864509:A:G 3498_427_143_T->A 0.000199681 568 chr4:110864525:A:G 3498_443_148_N->S 0.000199681 568 chr4:110864533:C:T 3498_451_151_H->Y 0.0147764 568 chr4:110865044:G:C 3498_556_186_D->H 0.0135783 568 chr4:110866260:G:C 3498_769_257_D->H 0.0061901 568 chr4:110866366:T:A 3498_875_292_L->H 0.00499201 568 chr4:110882053:G:A 3498_971_324_G->D 0.000399361 568 chr4:110882143:A:G 3498_1061_354_H->R 0.000199681 568 chr4:110883099:C:T 3498_1144_382_P->S 0.000199681 568 chr4:110883121:G:A 3498_1166_389_R->K 0.165335 568 chr4:110884370:G:A 3498_1228_410_V->I 0.000399361 568 chr4:110884383:C:A 3498_1241_414_P->Q 0.00139776 568 chr4:110885599:G:A 3498_1355_452_R->Q 0.000199681 568 chr4:110885619:A:G 3498_1375_459_T->A 0.000599042 568 chr4:110885652:G:A 3498_1408_470_G->R 0.000199681 568 chr4:110890127:A:G 3498_1450_484_I->V 0.000199681 568 chr4:110890156:G:C 3498_1479_493_W->C 0.000199681 568 chr4:110890274:G:A 3498_1597_533_G->R 0.00159744 568 chr4:110895897:G:A 3498_1637_546_R->H 0.000199681 568 chr4:110895923:A:G 3498_1663_555_I->V 0.00459265 568 chr4:110897215:C:T 3498_1751_584_S->F 0.000399361 568 chr4:110897252:C:G 3498_1788_596_S->R 0.00658946 568 chr4:110897281:C:T 3498_1817_606_T->M 0.000399361 568 chr4:110897304:T:A 3498_1840_614_L->M 0.000199681 568 chr4:110897377:C:T 3498_1913_638_T->I 0.000199681 568 chr4:110901198:G:A 3498_1998_666_M->I 0.382188 568 chr4:110901229:G:A 3498_2029_677_V->I 0.000199681 568 chr4:110901241:G:C 3498_2041_681_G->R 0.000199681 568 chr4:110902034:G:T 3498_2148_716_K->N 0.000399361 568 chr4:110902057:C:T 3498_2171_724_S->L 0.00219649 568 chr4:110902111:A:T 3498_2225_742_D->V 0.076877 568 chr4:110904584:A:T 3498_2252_751_E->V 0.000199681 568 chr4:110908933:T:C 3498_2399_800_M->T 0.033147 568 chr4:110908945:G:A 3498_2411_804_C->Y 0.000199681 568 chr4:110909014:C:T 3498_2480_827_S->F 0.000199681 568 chr4:110909805:G:A 3498_2548_850_E->K 0.000998403 568 chr4:110914427:A:T 3498_2633_878_E->V 0.079473 568 chr4:110914495:C:T 3498_2701_901_R->C 0.000199681 568 chr4:110915936:G:A 3498_2779_927_V->I 0.000199681 568 chr4:110915974:T:A 3498_2817_939_D->E 0.000199681 568 chr4:110916036:A:G 3498_2879_960_N->S 0.000199681 568 chr4:110920877:C:A 3498_2922_974_D->E 0.000599042 568 chr4:110920939:C:T 3498_2984_995_A->V 0.000199681 568 chr4:110920947:G:A 3498_2992_998_V->M 0.00379393 568 chr4:110920956:C:T 3498_3001_1001_L->F 0.00798722 568 chr4:110925662:A:T 3498_3049_1017_T->S 0.000199681 568 chr4:110925708:C:T 3498_3095_1032_S->L 0.000199681 568 chr4:110925738:C:G 3498_3125_1042_A->G 0.00399361 568 chr4:110932495:T:C 3498_3382_1128_Y->H 0.000399361 568 chr4:110932508:C:A 3498_3395_1132_T->N 0.00898562 568 chr4:110932517:G:C 3498_3404_1135_G->A 0.000399361 568 chr4:110932535:A:G 3498_3422_1141_H->R 0.000199681 568 na12878 Variants: 568 chr4:110901198:G:A 3498_1998_666_M->I 568 chr4:110914427:A:T 3498_2633_878_E->V 568 snyder Variants: 568 chr4:110902111:A:T 3498_2225_742_D->V 568 chr4:110901198:G:A 3498_1998_666_M->I 568 chr4:110914427:A:T 3498_2633_878_E->V 569 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138798_ENST00000265171 gene_Name: EGF_HUMAN 569 list of pdbs: 569 2KV4 pdb_description: 23-Feb-11 NMR 10 Egf 569 1P9J pdb_description: 07-Oct-03 NMR 36 Solution structure and dynamics of the egf/tgf-alpha chimera t1e 569 1JL9 pdb_description: 24-Oct-01 X-ray 3.000 Crystal structure of human epidermal growth factor 569 3NJP pdb_description: 13-Oct-10 X-ray 3.300 The extracellular and transmembrane domain interfaces in epi growth factor receptor signaling 569 1NQL pdb_description: 11-Mar-03 X-ray 2.800 Structure of the extracellular domain of human epidermal gro (egf) receptor in an inactive (low ph) complex with egf. 569 1IVO pdb_description: 16-Oct-02 X-ray 3.300 Crystal structure of the complex of human epidermal growth f receptor extracellular domains. 569 Zimmer Variants: 569 chr4:110901198:G:A 3624_2124_708_M->I 569 chr4:110914427:A:T 3624_2759_920_E->V 569 HGMD Variants: 569 chr4:110902111:A:T 3624_2351_784_D->V 569 chr4:110925696:C:T 3624_3209_1070_P->L 569 oneKG Variants: 569 chr4:110882136:C:T 3624_1180_394_R->* 0.000199681 569 chr4:110897367:C:T 3624_2029_677_R->* 0.000399361 569 chr4:110925770:C:T 3624_3283_1095_Q->* 0.000199681 569 chr4:110932474:C:T 3624_3487_1163_R->* 0.000199681 569 chr4:110834507:A:G 3624_16_6_I->V 0.000399361 569 chr4:110834508:T:C 3624_17_6_I->T 0.000199681 569 chr4:110834537:A:C 3624_46_16_S->R 0.00499201 569 chr4:110834591:G:A 3624_100_34_A->T 0.000199681 569 chr4:110862208:C:G 3624_234_78_I->M 0.000199681 569 chr4:110862273:G:T 3624_299_100_R->I 0.000199681 569 chr4:110864509:A:G 3624_427_143_T->A 0.000199681 569 chr4:110864525:A:G 3624_443_148_N->S 0.000199681 569 chr4:110864533:C:T 3624_451_151_H->Y 0.0147764 569 chr4:110865044:G:C 3624_556_186_D->H 0.0135783 569 chr4:110866260:G:C 3624_769_257_D->H 0.0061901 569 chr4:110866366:T:A 3624_875_292_L->H 0.00499201 569 chr4:110880579:G:A 3624_1052_351_R->Q 0.0 569 chr4:110882053:G:A 3624_1097_366_G->D 0.000399361 569 chr4:110882143:A:G 3624_1187_396_H->R 0.000199681 569 chr4:110883099:C:T 3624_1270_424_P->S 0.000199681 569 chr4:110883121:G:A 3624_1292_431_R->K 0.165335 569 chr4:110884370:G:A 3624_1354_452_V->I 0.000399361 569 chr4:110884383:C:A 3624_1367_456_P->Q 0.00139776 569 chr4:110885599:G:A 3624_1481_494_R->Q 0.000199681 569 chr4:110885619:A:G 3624_1501_501_T->A 0.000599042 569 chr4:110885652:G:A 3624_1534_512_G->R 0.000199681 569 chr4:110890127:A:G 3624_1576_526_I->V 0.000199681 569 chr4:110890156:G:C 3624_1605_535_W->C 0.000199681 569 chr4:110890274:G:A 3624_1723_575_G->R 0.00159744 569 chr4:110895897:G:A 3624_1763_588_R->H 0.000199681 569 chr4:110895923:A:G 3624_1789_597_I->V 0.00459265 569 chr4:110897215:C:T 3624_1877_626_S->F 0.000399361 569 chr4:110897252:C:G 3624_1914_638_S->R 0.00658946 569 chr4:110897281:C:T 3624_1943_648_T->M 0.000399361 569 chr4:110897304:T:A 3624_1966_656_L->M 0.000199681 569 chr4:110897377:C:T 3624_2039_680_T->I 0.000199681 569 chr4:110901198:G:A 3624_2124_708_M->I 0.382188 569 chr4:110901229:G:A 3624_2155_719_V->I 0.000199681 569 chr4:110901241:G:C 3624_2167_723_G->R 0.000199681 569 chr4:110902034:G:T 3624_2274_758_K->N 0.000399361 569 chr4:110902057:C:T 3624_2297_766_S->L 0.00219649 569 chr4:110902111:A:T 3624_2351_784_D->V 0.076877 569 chr4:110904584:A:T 3624_2378_793_E->V 0.000199681 569 chr4:110908933:T:C 3624_2525_842_M->T 0.033147 569 chr4:110908945:G:A 3624_2537_846_C->Y 0.000199681 569 chr4:110909014:C:T 3624_2606_869_S->F 0.000199681 569 chr4:110909805:G:A 3624_2674_892_E->K 0.000998403 569 chr4:110914427:A:T 3624_2759_920_E->V 0.079473 569 chr4:110914495:C:T 3624_2827_943_R->C 0.000199681 569 chr4:110915936:G:A 3624_2905_969_V->I 0.000199681 569 chr4:110915974:T:A 3624_2943_981_D->E 0.000199681 569 chr4:110916036:A:G 3624_3005_1002_N->S 0.000199681 569 chr4:110920877:C:A 3624_3048_1016_D->E 0.000599042 569 chr4:110920939:C:T 3624_3110_1037_A->V 0.000199681 569 chr4:110920947:G:A 3624_3118_1040_V->M 0.00379393 569 chr4:110920956:C:T 3624_3127_1043_L->F 0.00798722 569 chr4:110925662:A:T 3624_3175_1059_T->S 0.000199681 569 chr4:110925708:C:T 3624_3221_1074_S->L 0.000199681 569 chr4:110925738:C:G 3624_3251_1084_A->G 0.00399361 569 chr4:110932495:T:C 3624_3508_1170_Y->H 0.000399361 569 chr4:110932508:C:A 3624_3521_1174_T->N 0.00898562 569 chr4:110932517:G:C 3624_3530_1177_G->A 0.000399361 569 chr4:110932535:A:G 3624_3548_1183_H->R 0.000199681 569 na12878 Variants: 569 chr4:110901198:G:A 3624_2124_708_M->I 569 chr4:110914427:A:T 3624_2759_920_E->V 569 snyder Variants: 569 chr4:110902111:A:T 3624_2351_784_D->V 569 chr4:110901198:G:A 3624_2124_708_M->I 569 chr4:110914427:A:T 3624_2759_920_E->V 570 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000138798_ENST00000503392 gene_Name: EGF_HUMAN 570 list of pdbs: 570 2KV4 pdb_description: 23-Feb-11 NMR 10 Egf 570 1P9J pdb_description: 07-Oct-03 NMR 36 Solution structure and dynamics of the egf/tgf-alpha chimera t1e 570 1JL9 pdb_description: 24-Oct-01 X-ray 3.000 Crystal structure of human epidermal growth factor 570 3NJP pdb_description: 13-Oct-10 X-ray 3.300 The extracellular and transmembrane domain interfaces in epi growth factor receptor signaling 570 1NQL pdb_description: 11-Mar-03 X-ray 2.800 Structure of the extracellular domain of human epidermal gro (egf) receptor in an inactive (low ph) complex with egf. 570 1IVO pdb_description: 16-Oct-02 X-ray 3.300 Crystal structure of the complex of human epidermal growth f receptor extracellular domains. 570 Zimmer Variants: 570 chr4:110901198:G:A 3501_2124_708_M->I 570 HGMD Variants: 570 chr4:110902111:A:T 3501_2351_784_D->V 570 chr4:110925696:C:T 3501_3086_1029_P->L 570 oneKG Variants: 570 chr4:110882136:C:T 3501_1180_394_R->* 0.000199681 570 chr4:110897367:C:T 3501_2029_677_R->* 0.000399361 570 chr4:110925770:C:T 3501_3160_1054_Q->* 0.000199681 570 chr4:110932474:C:T 3501_3364_1122_R->* 0.000199681 570 chr4:110834507:A:G 3501_16_6_I->V 0.000399361 570 chr4:110834508:T:C 3501_17_6_I->T 0.000199681 570 chr4:110834537:A:C 3501_46_16_S->R 0.00499201 570 chr4:110834591:G:A 3501_100_34_A->T 0.000199681 570 chr4:110862208:C:G 3501_234_78_I->M 0.000199681 570 chr4:110862273:G:T 3501_299_100_R->I 0.000199681 570 chr4:110864509:A:G 3501_427_143_T->A 0.000199681 570 chr4:110864525:A:G 3501_443_148_N->S 0.000199681 570 chr4:110864533:C:T 3501_451_151_H->Y 0.0147764 570 chr4:110865044:G:C 3501_556_186_D->H 0.0135783 570 chr4:110866260:G:C 3501_769_257_D->H 0.0061901 570 chr4:110866366:T:A 3501_875_292_L->H 0.00499201 570 chr4:110880579:G:A 3501_1052_351_R->Q 0.0 570 chr4:110882053:G:A 3501_1097_366_G->D 0.000399361 570 chr4:110882143:A:G 3501_1187_396_H->R 0.000199681 570 chr4:110883099:C:T 3501_1270_424_P->S 0.000199681 570 chr4:110883121:G:A 3501_1292_431_R->K 0.165335 570 chr4:110884370:G:A 3501_1354_452_V->I 0.000399361 570 chr4:110884383:C:A 3501_1367_456_P->Q 0.00139776 570 chr4:110885599:G:A 3501_1481_494_R->Q 0.000199681 570 chr4:110885619:A:G 3501_1501_501_T->A 0.000599042 570 chr4:110885652:G:A 3501_1534_512_G->R 0.000199681 570 chr4:110890127:A:G 3501_1576_526_I->V 0.000199681 570 chr4:110890156:G:C 3501_1605_535_W->C 0.000199681 570 chr4:110890274:G:A 3501_1723_575_G->R 0.00159744 570 chr4:110895897:G:A 3501_1763_588_R->H 0.000199681 570 chr4:110895923:A:G 3501_1789_597_I->V 0.00459265 570 chr4:110897215:C:T 3501_1877_626_S->F 0.000399361 570 chr4:110897252:C:G 3501_1914_638_S->R 0.00658946 570 chr4:110897281:C:T 3501_1943_648_T->M 0.000399361 570 chr4:110897304:T:A 3501_1966_656_L->M 0.000199681 570 chr4:110897377:C:T 3501_2039_680_T->I 0.000199681 570 chr4:110901198:G:A 3501_2124_708_M->I 0.382188 570 chr4:110901229:G:A 3501_2155_719_V->I 0.000199681 570 chr4:110901241:G:C 3501_2167_723_G->R 0.000199681 570 chr4:110902034:G:T 3501_2274_758_K->N 0.000399361 570 chr4:110902057:C:T 3501_2297_766_S->L 0.00219649 570 chr4:110902111:A:T 3501_2351_784_D->V 0.076877 570 chr4:110904584:A:T 3501_2378_793_E->V 0.000199681 570 chr4:110908933:T:C 3501_2525_842_M->T 0.033147 570 chr4:110908945:G:A 3501_2537_846_C->Y 0.000199681 570 chr4:110909014:C:T 3501_2606_869_S->F 0.000199681 570 chr4:110909805:G:A 3501_2674_892_E->K 0.000998403 570 chr4:110915936:G:A 3501_2782_928_V->I 0.000199681 570 chr4:110915974:T:A 3501_2820_940_D->E 0.000199681 570 chr4:110916036:A:G 3501_2882_961_N->S 0.000199681 570 chr4:110920877:C:A 3501_2925_975_D->E 0.000599042 570 chr4:110920939:C:T 3501_2987_996_A->V 0.000199681 570 chr4:110920947:G:A 3501_2995_999_V->M 0.00379393 570 chr4:110920956:C:T 3501_3004_1002_L->F 0.00798722 570 chr4:110925662:A:T 3501_3052_1018_T->S 0.000199681 570 chr4:110925708:C:T 3501_3098_1033_S->L 0.000199681 570 chr4:110925738:C:G 3501_3128_1043_A->G 0.00399361 570 chr4:110932495:T:C 3501_3385_1129_Y->H 0.000399361 570 chr4:110932508:C:A 3501_3398_1133_T->N 0.00898562 570 chr4:110932517:G:C 3501_3407_1136_G->A 0.000399361 570 chr4:110932535:A:G 3501_3425_1142_H->R 0.000199681 570 na12878 Variants: 570 chr4:110901198:G:A 3501_2124_708_M->I 570 snyder Variants: 570 chr4:110902111:A:T 3501_2351_784_D->V 570 chr4:110901198:G:A 3501_2124_708_M->I 571 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000170917_ENST00000304430 gene_Name: NUDT6_HUMAN 571 list of pdbs: 571 3H95 pdb_description: 07-Jul-09 X-ray 1.700 Crystal structure of the nudix domain of nudt6 571 3FXT pdb_description: 03-Mar-09 X-ray 2.300 Crystal structure of the n-terminal domain of human nudt6 571 Zimmer Variants: 571 chr4:123838758:A:G 951_340_114_C->R;HUB=PPI;GENE=NUDT6;CDSS=2 571 HGMD Variants: 571 chr4:123814308:C:T 951_626_209_R->Q 571 chr4:123814308:C:T 951_626_209_R->Q 571 chr4:123818816:C:A 951_516_172_K->N 571 oneKG Variants: 571 chr4:123838756:G:T 951_342_114_C->* 0.000199681 571 chr4:123814033:A:G 951_901_301_Y->H 0.000199681 571 chr4:123814054:T:G 951_880_294_T->P 0.000199681 571 chr4:123814084:G:T 951_850_284_L->M 0.000199681 571 chr4:123814147:T:G 951_787_263_I->L 0.000199681 571 chr4:123814164:G:A 951_770_257_T->I 0.000199681 571 chr4:123814170:G:A 951_764_255_A->V 0.000199681 571 chr4:123814251:C:T 951_683_228_R->H 0.000199681 571 chr4:123814285:C:T 951_649_217_A->T 0.000199681 571 chr4:123814308:C:T 951_626_209_R->Q 0.228834 571 chr4:123814321:C:T 951_613_205_V->I 0.000199681 571 chr4:123814345:C:T 951_589_197_G->S 0.000199681 571 chr4:123814371:G:A 951_563_188_A->V 0.000599042 571 chr4:123838685:C:G 951_413_138_G->A 0.000798722 571 chr4:123838758:A:G 951_340_114_C->R 0.394369 571 chr4:123838763:C:T 951_335_112_G->D 0.000199681 571 chr4:123838857:C:A 951_241_81_A->S 0.000199681 571 chr4:123843494:C:A 951_234_78_L->F 0.000199681 571 chr4:123843511:C:A 951_217_73_A->S 0.000199681 571 chr4:123843552:C:A 951_176_59_R->L 0.000599042 571 chr4:123843622:C:G 951_106_36_V->L 0.000599042 571 chr4:123843624:T:C 951_104_35_Y->C 0.000199681 571 chr4:123843627:C:T 951_101_34_G->D 0.000199681 571 chr4:123843669:G:A 951_59_20_P->L 0.00179712 571 chr4:123843673:C:G 951_55_19_G->R 0.014976 571 chr4:123843705:C:T 951_23_8_G->D 0.000199681 571 chr4:123843709:A:G 951_19_7_W->R 0.0 571 na12878 Variants: 571 chr4:123838758:A:G 951_340_114_C->R 571 snyder Variants: 571 chr4:123838758:A:G 951_340_114_C->R 572 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000151623_ENST00000512865 gene_Name: MCR_HUMAN 572 list of pdbs: 572 3WFG pdb_description: 21-Aug-13 X-ray 1.400 Mineralocorticoid receptor ligand-binding domain with compuo 572 3WFF pdb_description: 21-Aug-13 X-ray 2.050 Mineralocorticoid receptor ligand-binding domain with compuo 572 3VHV pdb_description: 28-Dec-11 X-ray 1.350 Mineralocorticoid receptor ligand-binding domain with non-st antagonist 572 3VHU pdb_description: 28-Dec-11 X-ray 2.110 Mineralocorticoid receptor ligand-binding domain with spiron 572 2OAX pdb_description: 14-Aug-07 X-ray 2.290 Crystal structure of the s810l mutant mineralocorticoid receptor associated with sc9420 572 2ABI pdb_description: 25-Jul-06 X-ray 2.330 Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to deoxycorticosterone 572 2AB2 pdb_description: 26-Jul-05 X-ray 1.850 Mineralocorticoid receptor double mutant with bound spironolactone 572 2AAX pdb_description: 26-Jul-05 X-ray 1.750 Mineralocorticoid receptor double mutant with bound cortisone 572 2AA7 pdb_description: 26-Jul-05 X-ray 2.200 Mineralocorticoid receptor with bound deoxycorticosterone 572 2AA6 pdb_description: 26-Jul-05 X-ray 1.950 Mineralocorticoid receptor s810l mutant with bound progesterone 572 2AA5 pdb_description: 26-Jul-05 X-ray 2.200 Mineralocorticoid receptor with bound progesterone 572 2AA2 pdb_description: 26-Jul-05 X-ray 1.950 Mineralocorticoid receptor with bound aldosterone 572 2A3I pdb_description: 19-Jul-05 X-ray 1.950 Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor 572 1YA3 pdb_description: 24-May-05 X-ray 2.340 Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to progesterone and harboring the s810l mutation responsible for a severe form of hypertension 572 1Y9R pdb_description: 24-May-05 X-ray 1.960 Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to deoxycorticosterone and harboring the s810l mutation responsible for a severe form of hypertension 572 Zimmer Variants: 572 chr4:149357475:C:T 2604_538_180_V->I 572 HGMD Variants: 572 chr4:149002551:G:A 2604_2548_850_Q->* 572 chr4:149002611:G:A 2604_2488_830_R->* 572 chr4:149041369:G:A 2604_2230_744_R->*,1 572 chr4:149073677:G:T 2604_2102_701_S->* 572 chr4:149073712:C:T 2604_2067_689_W->* 572 chr4:149115957:G:A 2604_1954_652_R->* 572 chr4:149115960:G:A 2604_1951_651_R->* 572 chr4:149115976:G:T 2604_1935_645_C->* 572 chr4:149181259:G:A 2604_1768_590_R->* 572 chr4:149356334:C:T 2604_1679_560_W->* 572 chr4:149356404:G:A 2604_1609_537_R->* 572 chr4:149356705:A:T 2604_1308_436_C->* 572 chr4:149356984:G:T 2604_1029_343_Y->* 572 chr4:149357525:G:C 2604_488_163_S->* 572 chr4:149357611:A:T 2604_402_134_Y->* 572 chr4:149002514:A:G 2604_2585_862_L->P 572 chr4:149002535:T:C 2604_2564_855_E->G 572 chr4:149002637:A:C 2604_2462_821_L->R 572 chr4:149035283:A:G 2604_2420_807_L->P 572 chr4:149041320:A:G 2604_2279_760_L->P 572 chr4:149041407:A:G 2604_2192_731_L->P 572 chr4:149041423:A:G 2604_2176_726_S->P,1 572 chr4:149073677:G:A 2604_2102_701_S->L 572 chr4:149073685:G:T 2604_2094_698_S->R 572 chr4:149073701:G:A 2604_2078_693_S->L 572 chr4:149073717:A:G 2604_2062_688_S->P 572 chr4:149115934:T:G 2604_1977_659_R->S 572 chr4:149115977:C:G 2604_1934_645_C->S 572 chr4:149181130:C:T 2604_1897_633_G->R 572 chr4:149181210:C:G 2604_1817_606_C->S 572 chr4:149356352:T:C 2604_1661_554_N->S 572 chr4:149357291:A:G 2604_722_241_V->A 572 chr4:149357475:C:T 2604_538_180_V->I 572 oneKG Variants: 572 chr4:149357580:T:A 2604_433_145_K->* 0.000199681 572 chr4:149002502:C:T 2604_2597_866_R->Q 0.000199681 572 chr4:149041372:C:T 2604_2227_743_V->I,1 0.000998403 572 chr4:149115961:A:C 2604_1950_650_I->M 0.000199681 572 chr4:149356308:T:C 2604_1705_569_R->G 0.000399361 572 chr4:149356352:T:C 2604_1661_554_N->S 0.00898562 572 chr4:149356404:G:C 2604_1609_537_R->G 0.000199681 572 chr4:149356578:C:T 2604_1435_479_G->S 0.000399361 572 chr4:149356644:A:G 2604_1369_457_Y->H 0.000199681 572 chr4:149356682:T:G 2604_1331_444_N->T 0.00559105 572 chr4:149356757:G:A 2604_1256_419_S->L 0.000599042 572 chr4:149356841:T:C 2604_1172_391_Q->R 0.000199681 572 chr4:149356923:T:A 2604_1090_364_T->S 0.000199681 572 chr4:149357181:G:A 2604_832_278_H->Y 0.000199681 572 chr4:149357191:G:C 2604_822_274_S->R 0.000199681 572 chr4:149357246:T:C 2604_767_256_N->S 0.00219649 572 chr4:149357316:T:C 2604_697_233_T->A 0.000199681 572 chr4:149357348:C:A 2604_665_222_S->I 0.000399361 572 chr4:149357388:C:T 2604_625_209_G->R 0.000199681 572 chr4:149357438:G:T 2604_575_192_P->Q 0.000199681 572 chr4:149357475:C:T 2604_538_180_V->I 0.108027 572 chr4:149357537:G:A 2604_476_159_T->M 0.000199681 572 chr4:149357558:G:A 2604_455_152_S->F 0.000199681 572 chr4:149357564:C:T 2604_449_150_R->H 0.000199681 572 chr4:149357565:G:A 2604_448_150_R->C 0.000199681 572 chr4:149357729:T:C 2604_284_95_K->R 0.000199681 572 chr4:149357910:C:G 2604_103_35_E->Q 0.000399361 572 chr4:149357930:C:G 2604_83_28_R->P 0.000199681 572 chr4:149357931:G:T 2604_82_28_R->S 0.000199681 572 na12878 Variants: 572 chr4:149357475:C:T 2604_538_180_V->I 572 snyder Variants: 572 chr4:149357475:C:T 2604_538_180_V->I 573 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000038002_ENST00000264595 gene_Name: ASPG_HUMAN 573 list of pdbs: 573 1APZ pdb_description: 23-Dec-96 X-ray 2.300 Human aspartylglucosaminidase complex with reaction product 573 1APY pdb_description: 23-Dec-96 X-ray 2.000 Human aspartylglucosaminidase 573 Zimmer Variants: 573 chr4:178359960:G:C 1041_446_149_T->S;GNEG=Yes;GENE=AGA;CDSS=2;DBRECUR=AGA 573 HGMD Variants: 573 chr4:178352903:C:A 1041_1000_334_E->* 573 chr4:178359903:C:T 1041_503_168_W->* 573 chr4:178361516:A:T 1041_192_64_C->* 573 chr4:178354392:A:G 1041_916_306_C->R 573 chr4:178354404:C:T 1041_904_302_G->R 573 chr4:178355572:G:A 1041_770_257_T->I 573 chr4:178355587:C:T 1041_755_252_G->E 573 chr4:178355588:C:G 1041_754_252_G->R 573 chr4:178357451:C:T 1041_677_226_G->D 573 chr4:178359918:C:G 1041_488_163_C->S 573 chr4:178359924:C:T 1041_482_161_R->Q 573 chr4:178359967:A:G 1041_439_147_S->P 573 chr4:178360002:A:G 1041_404_135_F->S 573 chr4:178360778:G:A 1041_346_116_R->W 573 chr4:178360822:G:A 1041_302_101_A->V 573 chr4:178360825:C:T 1041_299_100_G->E 573 chr4:178361494:A:G 1041_214_72_S->P 573 chr4:178361529:C:T 1041_179_60_G->D 573 chr4:178363486:A:C 1041_44_15_L->R 573 oneKG Variants: 573 chr4:178352917:A:G 1041_986_329_M->T 0.000199681 573 chr4:178352924:T:C 1041_979_327_S->G 0.000399361 573 chr4:178352938:G:A 1041_965_322_T->I 0.00339457 573 chr4:178352959:G:A 1041_944_315_A->V 0.000399361 573 chr4:178354385:T:C 1041_923_308_N->S 0.000199681 573 chr4:178354406:A:G 1041_902_301_F->S 0.00379393 573 chr4:178354466:T:C 1041_842_281_D->G 0.000199681 573 chr4:178355550:C:T 1041_792_264_M->I 0.000399361 573 chr4:178355597:C:T 1041_745_249_D->N 0.000199681 573 chr4:178355620:G:A 1041_722_241_P->L 0.000199681 573 chr4:178355642:G:A 1041_700_234_R->C 0.000199681 573 chr4:178358607:T:C 1041_574_192_I->V 0.000199681 573 chr4:178359912:G:C 1041_494_165_P->R 0.000199681 573 chr4:178359918:C:G 1041_488_163_C->S 0.000399361 573 chr4:178359924:C:T 1041_482_161_R->Q 0.000599042 573 chr4:178359949:C:T 1041_457_153_A->T 0.000199681 573 chr4:178359960:G:C 1041_446_149_T->S 0.079073 573 chr4:178359970:A:C 1041_436_146_L->V 0.00139776 573 chr4:178360748:G:C 1041_376_126_L->V 0.000998403 573 chr4:178360811:G:T 1041_313_105_L->I 0.00179712 573 chr4:178360838:T:A 1041_286_96_T->S 0.000199681 573 chr4:178361432:C:T 1041_276_92_M->I 0.000399361 573 chr4:178361533:T:A 1041_175_59_S->C 0.000199681 573 chr4:178363478:G:C 1041_52_18_Q->E 0.000199681 573 chr4:178363480:C:T 1041_50_17_C->Y 0.000199681 573 chr4:178363496:C:A 1041_34_12_V->L 0.00858626 573 chr4:178363509:C:G 1041_21_7_L->F 0.000199681 573 chr4:178363520:T:G 1041_10_4_K->Q 0.000399361 573 na12878 Variants: 573 chr4:178359960:G:C 1041_446_149_T->S 573 snyder Variants: 573 chr4:178359960:G:C 1041_446_149_T->S 574 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164344_ENST00000264690 gene_Name: KLKB1_HUMAN 574 list of pdbs: 574 2ANY pdb_description: 11-Oct-05 X-ray 1.400 Expression, crystallization and the three-dimensional structure of the catalytic domain of human plasma kallikrein: implications for structure-based design of protease inhibitors 574 2ANW pdb_description: 11-Oct-05 X-ray 1.850 Expression, crystallization and three-dimensional structure of the catalytic domain of human plasma kallikrein: implications for structure-based design of protease inhibitors 574 Zimmer Variants: 574 chr4:187158034:G:A 1917_428_143_S->N 574 HGMD Variants: 574 chr4:187157943:C:T 1917_337_113_R->* 574 chr4:187173231:G:A 1917_1205_402_W->* 574 chr4:187177209:G:A 1917_1553_518_W->* 574 chr4:187157973:G:A 1917_367_123_G->R 574 chr4:187158034:G:A 1917_428_143_S->N 574 chr4:187171427:C:A 1917_629_210_A->E 574 chr4:187173285:G:A 1917_1259_420_G->E 574 chr4:187178437:G:A 1917_1643_548_C->Y 574 chr4:187178473:G:A 1917_1679_560_R->Q 574 oneKG Variants: 574 chr4:187153290:C:T 1917_68_23_T->I 0.00738818 574 chr4:187153432:C:A 1917_210_70_D->E 0.000599042 574 chr4:187158024:A:G 1917_418_140_R->G 0.000399361 574 chr4:187158034:G:A 1917_428_143_S->N 0.395367 574 chr4:187159453:G:A 1917_532_178_A->T 0.000199681 574 chr4:187159468:A:G 1917_547_183_S->G 0.000399361 574 chr4:187171404:C:A 1917_606_202_H->Q 0.00379393 574 chr4:187171405:A:G 1917_607_203_M->V 0.00239617 574 chr4:187171407:G:T 1917_609_203_M->I 0.000199681 574 chr4:187171427:C:A 1917_629_210_A->E 0.00638978 574 chr4:187171430:T:C 1917_632_211_F->S 0.000199681 574 chr4:187171480:C:T 1917_682_228_R->W 0.000199681 574 chr4:187171529:C:G 1917_731_244_T->R 0.000199681 574 chr4:187171540:A:G 1917_742_248_K->E 0.000199681 574 chr4:187172405:G:A 1917_791_264_G->D 0.000199681 574 chr4:187172420:C:G 1917_806_269_S->C 0.00379393 574 chr4:187172422:A:G 1917_808_270_T->A 0.00179712 574 chr4:187172442:A:G 1917_828_276_I->M 0.000199681 574 chr4:187172644:C:T 1917_872_291_P->L 0.00179712 574 chr4:187172665:C:T 1917_893_298_P->L 0.000199681 574 chr4:187172703:T:G 1917_931_311_F->V 0.0133786 574 chr4:187172718:A:G 1917_946_316_N->D 0.000199681 574 chr4:187172728:A:G 1917_956_319_Q->R 0.000798722 574 chr4:187172751:C:T 1917_979_327_R->C 0.000199681 574 chr4:187172929:T:C 1917_1058_353_M->T 0.000199681 574 chr4:187172931:G:A 1917_1060_354_D->N 0.000399361 574 chr4:187172943:A:G 1917_1072_358_T->A 0.0145767 574 chr4:187172971:G:A 1917_1100_367_S->N 0.000199681 574 chr4:187173012:T:G 1917_1141_381_S->A 0.112819 574 chr4:187173269:C:A 1917_1243_415_Q->K 0.000199681 574 chr4:187173285:G:A 1917_1259_420_G->E 0.000199681 574 chr4:187173290:T:C 1917_1264_422_S->P 0.000399361 574 chr4:187175752:C:A 1917_1324_442_Q->K 0.000199681 574 chr4:187175753:A:C 1917_1325_442_Q->P 0.00179712 574 chr4:187175764:C:T 1917_1336_446_R->C 0.000199681 574 chr4:187175797:A:G 1917_1369_457_I->V 0.000199681 574 chr4:187175824:A:G 1917_1396_466_I->V 0.000199681 574 chr4:187175884:T:G 1917_1456_486_L->V 0.000199681 574 chr4:187175914:A:G 1917_1486_496_T->A 0.000199681 574 chr4:187177160:A:G 1917_1504_502_I->V 0.000199681 574 chr4:187178470:A:T 1917_1676_559_Q->L 0.000199681 574 chr4:187178473:G:A 1917_1679_560_R->Q 0.228235 574 chr4:187178493:A:G 1917_1699_567_K->E 0.000199681 574 chr4:187179221:G:A 1917_1772_591_R->H,1 0.000199681 574 chr4:187179260:G:A 1917_1811_604_R->H 0.000199681 574 chr4:187179320:A:C 1917_1871_624_K->T 0.00319489 574 chr4:187179350:T:A 1917_1901_634_M->K 0.00319489 574 na12878 Variants: 574 chr4:187158034:G:A 1917_428_143_S->N 574 snyder Variants: 574 chr4:187158034:G:A 1917_428_143_S->N 574 chr4:187178473:G:A 1917_1679_560_R->Q 575 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000014824_ENST00000264451 gene_Name: ZNT9_HUMAN 575 list of pdbs: 575 2ENK pdb_description: 02-Oct-07 NMR 20 Solution structure of a putativ DNA-binding domain of the humansolute carrier family 30 (zinc transporter) protein 575 Zimmer Variants: 575 chr4:42020142:A:G 1707_289_97_T->A 575 chr4:42003671:A:G 1707_148_50_M->V 575 HGMD Variants: 575 chr4:42003671:A:G 1707_148_50_M->V 575 oneKG Variants: 575 chr4:41992690:G:C 1707_22_8_A->P 0.000199681 575 chr4:41992699:C:T 1707_31_11_H->Y 0.000199681 575 chr4:41992715:C:T 1707_47_16_S->F 0.00319489 575 chr4:42003671:A:G 1707_148_50_M->V 0.371605 575 chr4:42003677:C:T 1707_154_52_P->S 0.000998403 575 chr4:42003734:G:A 1707_211_71_V->I 0.00279553 575 chr4:42003768:G:T 1707_245_82_R->I 0.000399361 575 chr4:42003775:A:T 1707_252_84_E->D 0.00239617 575 chr4:42020142:A:G 1707_289_97_T->A 0.020567 575 chr4:42020145:G:C 1707_292_98_E->Q 0.000199681 575 chr4:42022439:C:T 1707_341_114_A->V 0.000798722 575 chr4:42025372:G:A 1707_581_194_R->H 0.000399361 575 chr4:42041065:T:G 1707_732_244_I->M 0.000199681 575 chr4:42051452:A:G 1707_796_266_M->V 0.00159744 575 chr4:42051479:T:C 1707_823_275_S->P 0.000199681 575 chr4:42051483:A:G 1707_827_276_D->G 0.000199681 575 chr4:42065097:A:G 1707_991_331_M->V 0.000199681 575 chr4:42067352:T:C 1707_1058_353_L->S 0.000199681 575 chr4:42068608:C:T 1707_1114_372_R->W 0.000199681 575 chr4:42068635:T:C 1707_1141_381_Y->H 0.000199681 575 chr4:42072672:G:A 1707_1382_461_R->Q 0.000798722 575 chr4:42080275:T:A 1707_1595_532_L->H 0.000199681 575 na12878 Variants: 575 chr4:42020142:A:G 1707_289_97_T->A 575 chr4:42003671:A:G 1707_148_50_M->V 575 snyder Variants: 575 chr4:42020142:A:G 1707_289_97_T->A 575 chr4:42003671:A:G 1707_148_50_M->V 576 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163297_ENST00000403729 gene_Name: ANTR2_HUMAN 576 list of pdbs: 576 1TZN pdb_description: 17-Aug-04 X-ray 4.300 Crystal structure of the anthrax toxin protective antigen he prepore bound to the vwa domain of cmg2, an anthrax toxin r 576 1T6B pdb_description: 20-Jul-04 X-ray 2.500 Crystal structure of b. Anthracis protective antigen complex human anthrax toxin receptor 576 1SHU pdb_description: 13-Apr-04 X-ray 1.500 Crystal structure of the von willebrand factor a domain of human capillary morphogenesis protein 2: an anthrax toxin receptor 576 1SHT pdb_description: 13-Apr-04 X-ray 1.810 Crystal structure of the von willebrand factor a domain of h capillary morphogenesis protein 2: an anthrax toxin recepto 576 Zimmer Variants: 576 chr4:80905990:C:G 1467_1069_357_A->P 576 HGMD Variants: 576 chr4:80899214:G:A 1467_1294_432_R->* 576 chr4:80905061:G:A 1467_1150_384_R->* 576 chr4:80957165:C:A 1467_658_220_E->* 576 chr4:80899327:A:G 1467_1181_394_V->A 576 chr4:80905055:C:A 1467_1156_386_V->F 576 chr4:80905069:T:C 1467_1142_381_Y->C 576 chr4:80905990:C:G 1467_1069_357_A->P 576 chr4:80929727:A:C 1467_989_330_L->R 576 chr4:80940052:A:C 1467_945_315_C->W 576 chr4:80940069:C:A 1467_928_310_V->F 576 chr4:80957171:A:G 1467_652_218_C->R 576 chr4:80975496:A:G 1467_566_189_I->T 576 chr4:80977111:G:T 1467_353_118_T->K 576 chr4:80977117:C:A 1467_347_116_G->V 576 chr4:80977150:C:T 1467_314_105_G->D 576 chr4:80993581:A:G 1467_134_45_L->P 576 chr4:80993599:C:A 1467_116_39_C->F 576 chr4:80993713:A:C 1467_2_1_M->R 576 oneKG Variants: 576 chr4:80828591:A:C 1467_1459_487_S->A 0.000599042 576 chr4:80898810:G:A 1467_1393_465_R->W 0.000199681 576 chr4:80898843:C:T 1467_1360_454_A->T 0.000599042 576 chr4:80899172:T:A 1467_1336_446_T->S 0.000199681 576 chr4:80899243:G:C 1467_1265_422_T->R 0.000199681 576 chr4:80905990:C:G 1467_1069_357_A->P 0.197284 576 chr4:80940066:T:G 1467_931_311_T->P 0.00299521 576 chr4:80940081:C:G 1467_916_306_G->R 0.000798722 576 chr4:80940099:C:T 1467_898_300_G->R 0.000199681 576 chr4:80952819:T:C 1467_824_275_N->S 0.000199681 576 chr4:80952835:C:T 1467_808_270_V->I 0.00898562 576 chr4:80957165:C:T 1467_658_220_E->K 0.000199681 576 chr4:80975428:A:T 1467_634_212_S->T 0.000199681 576 chr4:80975437:T:C 1467_625_209_I->V 0.000199681 576 chr4:80976345:T:C 1467_514_172_S->G 0.000199681 576 chr4:80977133:G:A 1467_331_111_R->C 0.0123802 576 chr4:80977135:T:C 1467_329_110_K->R 0.00658946 576 chr4:80990605:G:A 1467_281_94_P->L 0.000399361 576 chr4:80993618:C:G 1467_97_33_A->P 0.000199681 576 na12878 Variants: 576 chr4:80905990:C:G 1467_1069_357_A->P 576 snyder Variants: 576 chr4:80905990:C:G 1467_1069_357_A->P 577 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163297_ENST00000346652 gene_Name: ANTR2_HUMAN 577 list of pdbs: 577 1TZN pdb_description: 17-Aug-04 X-ray 4.300 Crystal structure of the anthrax toxin protective antigen he prepore bound to the vwa domain of cmg2, an anthrax toxin r 577 1T6B pdb_description: 20-Jul-04 X-ray 2.500 Crystal structure of b. Anthracis protective antigen complex human anthrax toxin receptor 577 1SHU pdb_description: 13-Apr-04 X-ray 1.500 Crystal structure of the von willebrand factor a domain of human capillary morphogenesis protein 2: an anthrax toxin receptor 577 1SHT pdb_description: 13-Apr-04 X-ray 1.810 Crystal structure of the von willebrand factor a domain of h capillary morphogenesis protein 2: an anthrax toxin recepto 577 Zimmer Variants: 577 chr4:80905990:C:G 1161_760_254_A->P;GENE=ANTXR2;CDSS=2 577 HGMD Variants: 577 chr4:80899214:G:A 1161_985_329_R->* 577 chr4:80905061:G:A 1161_841_281_R->* 577 chr4:80899327:A:G 1161_872_291_V->A 577 chr4:80905055:C:A 1161_847_283_V->F 577 chr4:80905069:T:C 1161_833_278_Y->C 577 chr4:80905990:C:G 1161_760_254_A->P 577 chr4:80929727:A:C 1161_680_227_L->R 577 chr4:80975496:A:G 1161_566_189_I->T 577 chr4:80977111:G:T 1161_353_118_T->K 577 chr4:80977117:C:A 1161_347_116_G->V 577 chr4:80977150:C:T 1161_314_105_G->D 577 chr4:80993581:A:G 1161_134_45_L->P 577 chr4:80993599:C:A 1161_116_39_C->F 577 chr4:80993713:A:C 1161_2_1_M->R 577 oneKG Variants: 577 chr4:80898741:T:G 1161_1153_385_T->P 0.000399361 577 chr4:80898810:G:A 1161_1084_362_R->W 0.000199681 577 chr4:80898843:C:T 1161_1051_351_A->T 0.000599042 577 chr4:80899172:T:A 1161_1027_343_T->S 0.000199681 577 chr4:80899243:G:C 1161_956_319_T->R 0.000199681 577 chr4:80905990:C:G 1161_760_254_A->P 0.197284 577 chr4:80975428:A:T 1161_634_212_S->T 0.000199681 577 chr4:80975437:T:C 1161_625_209_I->V 0.000199681 577 chr4:80976345:T:C 1161_514_172_S->G 0.000199681 577 chr4:80977133:G:A 1161_331_111_R->C 0.0123802 577 chr4:80977135:T:C 1161_329_110_K->R 0.00658946 577 chr4:80990605:G:A 1161_281_94_P->L 0.000399361 577 chr4:80993618:C:G 1161_97_33_A->P 0.000199681 577 na12878 Variants: 577 chr4:80905990:C:G 1161_760_254_A->P 577 snyder Variants: 577 chr4:80905990:C:G 1161_760_254_A->P 578 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163297_ENST00000307333 gene_Name: ANTR2_HUMAN 578 list of pdbs: 578 1TZN pdb_description: 17-Aug-04 X-ray 4.300 Crystal structure of the anthrax toxin protective antigen he prepore bound to the vwa domain of cmg2, an anthrax toxin r 578 1T6B pdb_description: 20-Jul-04 X-ray 2.500 Crystal structure of b. Anthracis protective antigen complex human anthrax toxin receptor 578 1SHU pdb_description: 13-Apr-04 X-ray 1.500 Crystal structure of the von willebrand factor a domain of human capillary morphogenesis protein 2: an anthrax toxin receptor 578 1SHT pdb_description: 13-Apr-04 X-ray 1.810 Crystal structure of the von willebrand factor a domain of h capillary morphogenesis protein 2: an anthrax toxin recepto 578 Zimmer Variants: 578 chr4:80905990:C:G 1470_1069_357_A->P 578 HGMD Variants: 578 chr4:80899214:G:A 1470_1294_432_R->* 578 chr4:80905061:G:A 1470_1150_384_R->* 578 chr4:80957165:C:A 1470_658_220_E->* 578 chr4:80899327:A:G 1470_1181_394_V->A 578 chr4:80905055:C:A 1470_1156_386_V->F 578 chr4:80905069:T:C 1470_1142_381_Y->C 578 chr4:80905990:C:G 1470_1069_357_A->P 578 chr4:80929727:A:C 1470_989_330_L->R 578 chr4:80940052:A:C 1470_945_315_C->W 578 chr4:80940069:C:A 1470_928_310_V->F 578 chr4:80957171:A:G 1470_652_218_C->R 578 chr4:80975496:A:G 1470_566_189_I->T 578 chr4:80977111:G:T 1470_353_118_T->K 578 chr4:80977117:C:A 1470_347_116_G->V 578 chr4:80977150:C:T 1470_314_105_G->D 578 chr4:80993581:A:G 1470_134_45_L->P 578 chr4:80993599:C:A 1470_116_39_C->F 578 chr4:80993713:A:C 1470_2_1_M->R 578 oneKG Variants: 578 chr4:80898741:T:G 1470_1462_488_T->P 0.000399361 578 chr4:80898810:G:A 1470_1393_465_R->W 0.000199681 578 chr4:80898843:C:T 1470_1360_454_A->T 0.000599042 578 chr4:80899172:T:A 1470_1336_446_T->S 0.000199681 578 chr4:80899243:G:C 1470_1265_422_T->R 0.000199681 578 chr4:80905990:C:G 1470_1069_357_A->P 0.197284 578 chr4:80940066:T:G 1470_931_311_T->P 0.00299521 578 chr4:80940081:C:G 1470_916_306_G->R 0.000798722 578 chr4:80940099:C:T 1470_898_300_G->R 0.000199681 578 chr4:80952819:T:C 1470_824_275_N->S 0.000199681 578 chr4:80952835:C:T 1470_808_270_V->I 0.00898562 578 chr4:80957165:C:T 1470_658_220_E->K 0.000199681 578 chr4:80975428:A:T 1470_634_212_S->T 0.000199681 578 chr4:80975437:T:C 1470_625_209_I->V 0.000199681 578 chr4:80976345:T:C 1470_514_172_S->G 0.000199681 578 chr4:80977133:G:A 1470_331_111_R->C 0.0123802 578 chr4:80977135:T:C 1470_329_110_K->R 0.00658946 578 chr4:80990605:G:A 1470_281_94_P->L 0.000399361 578 chr4:80993618:C:G 1470_97_33_A->P 0.000199681 578 na12878 Variants: 578 chr4:80905990:C:G 1470_1069_357_A->P 578 snyder Variants: 578 chr4:80905990:C:G 1470_1069_357_A->P 579 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133835_ENST00000256216 gene_Name: DHB4_HUMAN 579 list of pdbs: 579 1ZBQ pdb_description: 26-Apr-05 X-ray 2.710 Crystal structure of human 17-beta-hydroxysteroid dehydrogen in complex with NAD 579 1S9C pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure analysis of the 2-enoyl-coa hydratase 2 domain of human peroxisomal multifunctional enzyme type 2 579 1IKT pdb_description: 14-Nov-01 X-ray 1.750 Liganded sterol carrier protein type 2 (scp-2) like domain of human multifunctional enzyme type 2 (mfe-2) 579 Zimmer Variants: 579 chr5:118860938:T:C 2211_1531_511_W->R 579 chr5:118861713:A:G 2211_1675_559_I->V 579 HGMD Variants: 579 chr5:118824936:G:A 2211_672_224_W->* 579 chr5:118829596:A:T 2211_823_275_K->* 579 chr5:118862851:T:A 2211_1704_568_Y->* 579 chr5:118867078:G:T 2211_1972_658_G->* 579 chr5:118872153:C:T 2211_2029_677_Q->* 579 chr5:118788313:A:G 2211_43_15_T->A 579 chr5:118788316:G:A 2211_46_16_G->S 579 chr5:118788320:C:T 2211_50_17_A->V 579 chr5:118792014:G:T 2211_63_21_L->F 579 chr5:118792022:C:T 2211_71_24_A->V 579 chr5:118792027:G:C 2211_76_26_A->P 579 chr5:118792052:C:T 2211_101_34_A->V 579 chr5:118809706:C:A 2211_216_72_N->K 579 chr5:118811527:G:T 2211_311_104_R->M 579 chr5:118811533:G:C 2211_317_106_R->P 579 chr5:118813139:G:T 2211_377_126_G->V 579 chr5:118813156:C:T 2211_394_132_R->W 579 chr5:118814552:C:T 2211_458_153_S->L 579 chr5:118814566:A:G 2211_472_158_N->D 579 chr5:118814579:C:A 2211_485_162_A->D 579 chr5:118814624:C:T 2211_530_177_S->F 579 chr5:118814681:C:T 2211_587_196_A->V 579 chr5:118824914:A:G 2211_650_217_Y->C 579 chr5:118824916:G:T 2211_652_218_V->L 579 chr5:118824958:G:A 2211_694_232_E->K 579 chr5:118824974:T:C 2211_710_237_F->S 579 chr5:118827801:G:A 2211_721_241_A->T 579 chr5:118827805:G:A 2211_725_242_G->E 579 chr5:118829515:C:T 2211_742_248_R->C 579 chr5:118829518:T:G 2211_745_249_W->G 579 chr5:118829592:G:T 2211_819_273_W->C 579 chr5:118835081:G:A 2211_1042_348_A->T 579 chr5:118835091:T:G 2211_1052_351_V->G 579 chr5:118835136:A:G 2211_1097_366_E->G 579 chr5:118837740:T:C 2211_1214_405_L->P 579 chr5:118844871:A:T 2211_1369_457_N->Y 579 chr5:118844871:A:G 2211_1369_457_N->D 579 chr5:118860923:C:T 2211_1516_506_R->C 579 chr5:118860924:G:A 2211_1517_506_R->H 579 chr5:118860935:G:T 2211_1528_510_D->Y 579 chr5:118860944:C:A 2211_1537_513_P->T 579 chr5:118860952:C:G 2211_1545_515_H->Q 579 chr5:118860954:T:C 2211_1547_516_I->T 579 chr5:118861612:G:T 2211_1574_525_G->V 579 chr5:118861624:C:T 2211_1586_529_P->L 579 chr5:118861633:A:G 2211_1595_532_H->R 579 chr5:118861635:G:C 2211_1597_533_G->R 579 chr5:118861666:G:C 2211_1628_543_R->P 579 chr5:118862832:G:A 2211_1685_562_R->H 579 chr5:118862832:G:T 2211_1685_562_R->L 579 chr5:118877685:T:A 2211_2207_736_L->H 579 oneKG Variants: 579 chr5:118792045:A:G 2211_94_32_R->G 0.000199681 579 chr5:118809642:G:T 2211_152_51_G->V 0.000399361 579 chr5:118809673:A:C 2211_183_61_E->D 0.000199681 579 chr5:118810143:T:C 2211_268_90_F->L 0.000399361 579 chr5:118810153:T:C 2211_278_93_I->T 0.000399361 579 chr5:118811533:G:A 2211_317_106_R->H 0.36262 579 chr5:118811551:G:C 2211_335_112_S->T 0.000199681 579 chr5:118813148:A:G 2211_386_129_Q->R 0.000199681 579 chr5:118813182:A:T 2211_420_140_K->N 0.024361 579 chr5:118814650:A:C 2211_556_186_N->H 0.000199681 579 chr5:118814681:C:T 2211_587_196_A->V 0.000199681 579 chr5:118824907:C:T 2211_643_215_P->S 0.000199681 579 chr5:118829563:A:G 2211_790_264_M->V 0.000399361 579 chr5:118829584:G:A 2211_811_271_A->T 0.000199681 579 chr5:118829613:G:C 2211_840_280_E->D 0.000199681 579 chr5:118829635:A:G 2211_862_288_I->V 0.000199681 579 chr5:118832244:C:G 2211_875_292_T->S 0.0195687 579 chr5:118832301:A:G 2211_932_311_N->S 0.000199681 579 chr5:118832319:C:T 2211_950_317_T->M 0.000199681 579 chr5:118835097:C:T 2211_1058_353_A->V 0.000199681 579 chr5:118835102:A:G 2211_1063_355_I->V 0.000199681 579 chr5:118835177:A:G 2211_1138_380_I->V 0.000199681 579 chr5:118835195:A:G 2211_1156_386_M->V 0.000199681 579 chr5:118835231:T:C 2211_1192_398_S->P 0.00139776 579 chr5:118842561:C:G 2211_1310_437_S->C 0.000199681 579 chr5:118842578:A:T 2211_1327_443_M->L 0.000599042 579 chr5:118844904:G:A 2211_1402_468_G->S 0.000199681 579 chr5:118844917:A:G 2211_1415_472_K->R 0.000199681 579 chr5:118850686:C:G 2211_1448_483_A->G 0.000199681 579 chr5:118850709:G:A 2211_1471_491_A->T 0.00199681 579 chr5:118860935:G:A 2211_1528_510_D->N 0.000199681 579 chr5:118860938:T:C 2211_1531_511_W->R 0.130791 579 chr5:118860950:C:T 2211_1543_515_H->Y 0.000199681 579 chr5:118860973:T:A 2211_1566_522_S->R 0.000998403 579 chr5:118861663:G:A 2211_1625_542_R->K 0.000798722 579 chr5:118861666:G:A 2211_1628_543_R->H 0.000199681 579 chr5:118861708:A:T 2211_1670_557_K->M 0.000599042 579 chr5:118861713:A:G 2211_1675_559_I->V 0.40016 579 chr5:118862828:G:T 2211_1681_561_A->S 0.000199681 579 chr5:118862832:G:A 2211_1685_562_R->H 0.000399361 579 chr5:118862864:C:A 2211_1717_573_L->I 0.000199681 579 chr5:118862914:G:T 2211_1767_589_K->N 0.000199681 579 chr5:118872184:C:T 2211_2060_687_T->I 0.0133786 579 chr5:118872236:C:A 2211_2112_704_D->E 0.000199681 579 chr5:118877605:C:G 2211_2127_709_F->L 0.000199681 579 chr5:118877654:C:G 2211_2176_726_L->V 0.000998403 579 chr5:118877660:A:G 2211_2182_728_M->V 0.0333466 579 na12878 Variants: 579 chr5:118860938:T:C 2211_1531_511_W->R 579 chr5:118861713:A:G 2211_1675_559_I->V 579 snyder Variants: 579 chr5:118811533:G:A 2211_317_106_R->H 579 chr5:118861713:A:G 2211_1675_559_I->V 580 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133835_ENST00000515320 gene_Name: DHB4_HUMAN 580 list of pdbs: 580 1ZBQ pdb_description: 26-Apr-05 X-ray 2.710 Crystal structure of human 17-beta-hydroxysteroid dehydrogen in complex with NAD 580 1S9C pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure analysis of the 2-enoyl-coa hydratase 2 domain of human peroxisomal multifunctional enzyme type 2 580 1IKT pdb_description: 14-Nov-01 X-ray 1.750 Liganded sterol carrier protein type 2 (scp-2) like domain of human multifunctional enzyme type 2 (mfe-2) 580 Zimmer Variants: 580 chr5:118860938:T:C 2157_1477_493_W->R 580 chr5:118861713:A:G 2157_1621_541_I->V 580 HGMD Variants: 580 chr5:118824936:G:A 2157_618_206_W->* 580 chr5:118829596:A:T 2157_769_257_K->* 580 chr5:118862851:T:A 2157_1650_550_Y->* 580 chr5:118867078:G:T 2157_1918_640_G->* 580 chr5:118872153:C:T 2157_1975_659_Q->* 580 chr5:118788313:A:G 2157_43_15_T->A 580 chr5:118788316:G:A 2157_46_16_G->S 580 chr5:118788320:C:T 2157_50_17_A->V 580 chr5:118809706:C:A 2157_162_54_N->K 580 chr5:118811527:G:T 2157_257_86_R->M 580 chr5:118811533:G:C 2157_263_88_R->P 580 chr5:118813139:G:T 2157_323_108_G->V 580 chr5:118813156:C:T 2157_340_114_R->W 580 chr5:118814552:C:T 2157_404_135_S->L 580 chr5:118814566:A:G 2157_418_140_N->D 580 chr5:118814579:C:A 2157_431_144_A->D 580 chr5:118814624:C:T 2157_476_159_S->F 580 chr5:118814681:C:T 2157_533_178_A->V 580 chr5:118824914:A:G 2157_596_199_Y->C 580 chr5:118824916:G:T 2157_598_200_V->L 580 chr5:118824958:G:A 2157_640_214_E->K 580 chr5:118824974:T:C 2157_656_219_F->S 580 chr5:118827801:G:A 2157_667_223_A->T 580 chr5:118827805:G:A 2157_671_224_G->E 580 chr5:118829515:C:T 2157_688_230_R->C 580 chr5:118829518:T:G 2157_691_231_W->G 580 chr5:118829592:G:T 2157_765_255_W->C 580 chr5:118835081:G:A 2157_988_330_A->T 580 chr5:118835091:T:G 2157_998_333_V->G 580 chr5:118835136:A:G 2157_1043_348_E->G 580 chr5:118837740:T:C 2157_1160_387_L->P 580 chr5:118844871:A:T 2157_1315_439_N->Y 580 chr5:118844871:A:G 2157_1315_439_N->D 580 chr5:118860923:C:T 2157_1462_488_R->C 580 chr5:118860924:G:A 2157_1463_488_R->H 580 chr5:118860935:G:T 2157_1474_492_D->Y 580 chr5:118860944:C:A 2157_1483_495_P->T 580 chr5:118860952:C:G 2157_1491_497_H->Q 580 chr5:118860954:T:C 2157_1493_498_I->T 580 chr5:118861612:G:T 2157_1520_507_G->V 580 chr5:118861624:C:T 2157_1532_511_P->L 580 chr5:118861633:A:G 2157_1541_514_H->R 580 chr5:118861635:G:C 2157_1543_515_G->R 580 chr5:118861666:G:C 2157_1574_525_R->P 580 chr5:118862832:G:A 2157_1631_544_R->H 580 chr5:118862832:G:T 2157_1631_544_R->L 580 chr5:118877685:T:A 2157_2153_718_L->H 580 oneKG Variants: 580 chr5:118809642:G:T 2157_98_33_G->V 0.000399361 580 chr5:118809673:A:C 2157_129_43_E->D 0.000199681 580 chr5:118810143:T:C 2157_214_72_F->L 0.000399361 580 chr5:118810153:T:C 2157_224_75_I->T 0.000399361 580 chr5:118811533:G:A 2157_263_88_R->H 0.36262 580 chr5:118811551:G:C 2157_281_94_S->T 0.000199681 580 chr5:118813148:A:G 2157_332_111_Q->R 0.000199681 580 chr5:118813182:A:T 2157_366_122_K->N 0.024361 580 chr5:118814650:A:C 2157_502_168_N->H 0.000199681 580 chr5:118814681:C:T 2157_533_178_A->V 0.000199681 580 chr5:118824907:C:T 2157_589_197_P->S 0.000199681 580 chr5:118829563:A:G 2157_736_246_M->V 0.000399361 580 chr5:118829584:G:A 2157_757_253_A->T 0.000199681 580 chr5:118829613:G:C 2157_786_262_E->D 0.000199681 580 chr5:118829635:A:G 2157_808_270_I->V 0.000199681 580 chr5:118832244:C:G 2157_821_274_T->S 0.0195687 580 chr5:118832301:A:G 2157_878_293_N->S 0.000199681 580 chr5:118832319:C:T 2157_896_299_T->M 0.000199681 580 chr5:118835097:C:T 2157_1004_335_A->V 0.000199681 580 chr5:118835102:A:G 2157_1009_337_I->V 0.000199681 580 chr5:118835177:A:G 2157_1084_362_I->V 0.000199681 580 chr5:118835195:A:G 2157_1102_368_M->V 0.000199681 580 chr5:118835231:T:C 2157_1138_380_S->P 0.00139776 580 chr5:118842561:C:G 2157_1256_419_S->C 0.000199681 580 chr5:118842578:A:T 2157_1273_425_M->L 0.000599042 580 chr5:118844904:G:A 2157_1348_450_G->S 0.000199681 580 chr5:118844917:A:G 2157_1361_454_K->R 0.000199681 580 chr5:118850686:C:G 2157_1394_465_A->G 0.000199681 580 chr5:118850709:G:A 2157_1417_473_A->T 0.00199681 580 chr5:118860935:G:A 2157_1474_492_D->N 0.000199681 580 chr5:118860938:T:C 2157_1477_493_W->R 0.130791 580 chr5:118860950:C:T 2157_1489_497_H->Y 0.000199681 580 chr5:118860973:T:A 2157_1512_504_S->R 0.000998403 580 chr5:118861663:G:A 2157_1571_524_R->K 0.000798722 580 chr5:118861666:G:A 2157_1574_525_R->H 0.000199681 580 chr5:118861708:A:T 2157_1616_539_K->M 0.000599042 580 chr5:118861713:A:G 2157_1621_541_I->V 0.40016 580 chr5:118862828:G:T 2157_1627_543_A->S 0.000199681 580 chr5:118862832:G:A 2157_1631_544_R->H 0.000399361 580 chr5:118862864:C:A 2157_1663_555_L->I 0.000199681 580 chr5:118862914:G:T 2157_1713_571_K->N 0.000199681 580 chr5:118872184:C:T 2157_2006_669_T->I 0.0133786 580 chr5:118872236:C:A 2157_2058_686_D->E 0.000199681 580 chr5:118877605:C:G 2157_2073_691_F->L 0.000199681 580 chr5:118877654:C:G 2157_2122_708_L->V 0.000998403 580 chr5:118877660:A:G 2157_2128_710_M->V 0.0333466 580 na12878 Variants: 580 chr5:118860938:T:C 2157_1477_493_W->R 580 chr5:118861713:A:G 2157_1621_541_I->V 580 snyder Variants: 580 chr5:118811533:G:A 2157_263_88_R->H 580 chr5:118861713:A:G 2157_1621_541_I->V 581 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133835_ENST00000504811 gene_Name: DHB4_HUMAN 581 list of pdbs: 581 1ZBQ pdb_description: 26-Apr-05 X-ray 2.710 Crystal structure of human 17-beta-hydroxysteroid dehydrogen in complex with NAD 581 1S9C pdb_description: 15-Feb-05 X-ray 3.000 Crystal structure analysis of the 2-enoyl-coa hydratase 2 domain of human peroxisomal multifunctional enzyme type 2 581 1IKT pdb_description: 14-Nov-01 X-ray 1.750 Liganded sterol carrier protein type 2 (scp-2) like domain of human multifunctional enzyme type 2 (mfe-2) 581 Zimmer Variants: 581 chr5:118860938:T:C 2286_1606_536_W->R 581 chr5:118861713:A:G 2286_1750_584_I->V 581 HGMD Variants: 581 chr5:118824936:G:A 2286_747_249_W->* 581 chr5:118829596:A:T 2286_898_300_K->* 581 chr5:118862851:T:A 2286_1779_593_Y->* 581 chr5:118867078:G:T 2286_2047_683_G->* 581 chr5:118872153:C:T 2286_2104_702_Q->* 581 chr5:118792014:G:T 2286_73_25_G->W 581 chr5:118792027:G:C 2286_86_29_C->S 581 chr5:118809706:C:A 2286_291_97_N->K 581 chr5:118811527:G:T 2286_386_129_R->M 581 chr5:118811533:G:C 2286_392_131_R->P 581 chr5:118813139:G:T 2286_452_151_G->V 581 chr5:118813156:C:T 2286_469_157_R->W 581 chr5:118814552:C:T 2286_533_178_S->L 581 chr5:118814566:A:G 2286_547_183_N->D 581 chr5:118814579:C:A 2286_560_187_A->D 581 chr5:118814624:C:T 2286_605_202_S->F 581 chr5:118814681:C:T 2286_662_221_A->V 581 chr5:118824914:A:G 2286_725_242_Y->C 581 chr5:118824916:G:T 2286_727_243_V->L 581 chr5:118824958:G:A 2286_769_257_E->K 581 chr5:118824974:T:C 2286_785_262_F->S 581 chr5:118827801:G:A 2286_796_266_A->T 581 chr5:118827805:G:A 2286_800_267_G->E 581 chr5:118829515:C:T 2286_817_273_R->C 581 chr5:118829518:T:G 2286_820_274_W->G 581 chr5:118829592:G:T 2286_894_298_W->C 581 chr5:118835081:G:A 2286_1117_373_A->T 581 chr5:118835091:T:G 2286_1127_376_V->G 581 chr5:118835136:A:G 2286_1172_391_E->G 581 chr5:118837740:T:C 2286_1289_430_L->P 581 chr5:118844871:A:T 2286_1444_482_N->Y 581 chr5:118844871:A:G 2286_1444_482_N->D 581 chr5:118860923:C:T 2286_1591_531_R->C 581 chr5:118860924:G:A 2286_1592_531_R->H 581 chr5:118860935:G:T 2286_1603_535_D->Y 581 chr5:118860944:C:A 2286_1612_538_P->T 581 chr5:118860952:C:G 2286_1620_540_H->Q 581 chr5:118860954:T:C 2286_1622_541_I->T 581 chr5:118861612:G:T 2286_1649_550_G->V 581 chr5:118861624:C:T 2286_1661_554_P->L 581 chr5:118861633:A:G 2286_1670_557_H->R 581 chr5:118861635:G:C 2286_1672_558_G->R 581 chr5:118861666:G:C 2286_1703_568_R->P 581 chr5:118862832:G:A 2286_1760_587_R->H 581 chr5:118862832:G:T 2286_1760_587_R->L 581 chr5:118877685:T:A 2286_2282_761_L->H 581 oneKG Variants: 581 chr5:118807362:A:T 2286_154_52_K->* 0.000199681 581 chr5:118788464:G:C 2286_16_6_A->P 0.000199681 581 chr5:118792045:A:G 2286_104_35_K->R 0.000199681 581 chr5:118807356:A:G 2286_148_50_M->V 0.000199681 581 chr5:118809642:G:T 2286_227_76_G->V 0.000399361 581 chr5:118809673:A:C 2286_258_86_E->D 0.000199681 581 chr5:118810143:T:C 2286_343_115_F->L 0.000399361 581 chr5:118810153:T:C 2286_353_118_I->T 0.000399361 581 chr5:118811533:G:A 2286_392_131_R->H 0.36262 581 chr5:118811551:G:C 2286_410_137_S->T 0.000199681 581 chr5:118813148:A:G 2286_461_154_Q->R 0.000199681 581 chr5:118813182:A:T 2286_495_165_K->N 0.024361 581 chr5:118814650:A:C 2286_631_211_N->H 0.000199681 581 chr5:118814681:C:T 2286_662_221_A->V 0.000199681 581 chr5:118824907:C:T 2286_718_240_P->S 0.000199681 581 chr5:118829563:A:G 2286_865_289_M->V 0.000399361 581 chr5:118829584:G:A 2286_886_296_A->T 0.000199681 581 chr5:118829613:G:C 2286_915_305_E->D 0.000199681 581 chr5:118829635:A:G 2286_937_313_I->V 0.000199681 581 chr5:118832244:C:G 2286_950_317_T->S 0.0195687 581 chr5:118832301:A:G 2286_1007_336_N->S 0.000199681 581 chr5:118832319:C:T 2286_1025_342_T->M 0.000199681 581 chr5:118835097:C:T 2286_1133_378_A->V 0.000199681 581 chr5:118835102:A:G 2286_1138_380_I->V 0.000199681 581 chr5:118835177:A:G 2286_1213_405_I->V 0.000199681 581 chr5:118835195:A:G 2286_1231_411_M->V 0.000199681 581 chr5:118835231:T:C 2286_1267_423_S->P 0.00139776 581 chr5:118842561:C:G 2286_1385_462_S->C 0.000199681 581 chr5:118842578:A:T 2286_1402_468_M->L 0.000599042 581 chr5:118844904:G:A 2286_1477_493_G->S 0.000199681 581 chr5:118844917:A:G 2286_1490_497_K->R 0.000199681 581 chr5:118850686:C:G 2286_1523_508_A->G 0.000199681 581 chr5:118850709:G:A 2286_1546_516_A->T 0.00199681 581 chr5:118860935:G:A 2286_1603_535_D->N 0.000199681 581 chr5:118860938:T:C 2286_1606_536_W->R 0.130791 581 chr5:118860950:C:T 2286_1618_540_H->Y 0.000199681 581 chr5:118860973:T:A 2286_1641_547_S->R 0.000998403 581 chr5:118861663:G:A 2286_1700_567_R->K 0.000798722 581 chr5:118861666:G:A 2286_1703_568_R->H 0.000199681 581 chr5:118861708:A:T 2286_1745_582_K->M 0.000599042 581 chr5:118861713:A:G 2286_1750_584_I->V 0.40016 581 chr5:118862828:G:T 2286_1756_586_A->S 0.000199681 581 chr5:118862832:G:A 2286_1760_587_R->H 0.000399361 581 chr5:118862864:C:A 2286_1792_598_L->I 0.000199681 581 chr5:118862914:G:T 2286_1842_614_K->N 0.000199681 581 chr5:118872184:C:T 2286_2135_712_T->I 0.0133786 581 chr5:118872236:C:A 2286_2187_729_D->E 0.000199681 581 chr5:118877605:C:G 2286_2202_734_F->L 0.000199681 581 chr5:118877654:C:G 2286_2251_751_L->V 0.000998403 581 chr5:118877660:A:G 2286_2257_753_M->V 0.0333466 581 na12878 Variants: 581 chr5:118860938:T:C 2286_1606_536_W->R 581 chr5:118861713:A:G 2286_1750_584_I->V 581 snyder Variants: 581 chr5:118811533:G:A 2286_392_131_R->H 581 chr5:118861713:A:G 2286_1750_584_I->V 582 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000184584_ENST00000330794 gene_Name: STING_HUMAN 582 list of pdbs: 582 4LOI pdb_description: 14-Aug-13 X-ray 1.890 Crystal structure of hsting(h232) in complex with c[g(2',5') p] 582 4LOH pdb_description: 14-Aug-13 X-ray 2.250 Crystal structure of hsting(h232) in complex with c[g(2',5') p] 582 4KSY pdb_description: 12-Jun-13 X-ray 1.880 Crystal structure of sting in complex with cgamp 582 4F9G pdb_description: 25-Jul-12 X-ray 2.950 Crystal structure of sting complex with cyclic di-gmp. 582 4F9E pdb_description: 25-Jul-12 X-ray 2.750 Cyclic di-gmp sensing via the innate immune signaling protei 582 4F5Y pdb_description: 27-Jun-12 X-ray 2.400 Crystal structure of human sting ctd complex with c-di-gmp 582 4F5W pdb_description: 27-Jun-12 X-ray 2.200 Crystal structure of ligand free human sting ctd 582 4F5E pdb_description: 27-Jun-12 X-ray 2.600 Crystal structure of eris/sting 582 4F5D pdb_description: 27-Jun-12 X-ray 3.000 Eris/sting in complex with ligand 582 4EMU pdb_description: 13-Jun-12 X-ray 1.900 Crystal structure of ligand free human sting 582 4EMT pdb_description: 13-Jun-12 X-ray 1.500 Crystal structure of human sting bound to c-di-gmp 582 4EF5 pdb_description: 16-May-12 X-ray 2.450 Crystal structure of sting ctd 582 4EF4 pdb_description: 16-May-12 X-ray 2.150 Crystal structure of sting ctd complex with c-di-gmp 582 Zimmer Variants: 582 chr5:138856982:C:T 1140_878_293_R->Q;GENE=TMEM173;CDSS=2 582 chr5:138857919:T:C 1140_695_232_H->R;GENE=TMEM173;CDSS=2 582 chr5:138857925:C:G 1140_689_230_G->A;GENE=TMEM173;CDSS=1 582 chr5:138861078:C:T 1140_212_71_R->H;GENE=TMEM173;CDSS=1 582 HGMD Variants: 582 chr5:138856982:C:T 1140_878_293_R->Q 582 chr5:138860432:C:T 1140_463_155_V->M 582 chr5:138860434:T:C 1140_461_154_N->S 582 chr5:138860456:C:G 1140_439_147_V->L 582 chr5:138861078:C:T 1140_212_71_R->H 582 oneKG Variants: 582 chr5:138855862:C:A 1140_1124_375_R->L 0.00299521 582 chr5:138855910:T:C 1140_1076_359_Q->R 0.000399361 582 chr5:138855946:T:G 1140_1040_347_K->T 0.000199681 582 chr5:138855994:C:T 1140_992_331_R->Q 0.000199681 582 chr5:138856007:G:T 1140_979_327_Q->K 0.000199681 582 chr5:138856013:G:C 1140_973_325_L->V 0.000199681 582 chr5:138856923:C:T 1140_937_313_A->T 0.0071885 582 chr5:138856982:C:T 1140_878_293_R->Q 0.27496 582 chr5:138857070:G:A 1140_790_264_P->S 0.000199681 582 chr5:138857076:C:T 1140_784_262_A->T 0.000199681 582 chr5:138857097:C:T 1140_763_255_G->S 0.000199681 582 chr5:138857857:G:A 1140_757_253_R->W 0.000199681 582 chr5:138857917:C:T 1140_697_233_A->T 0.000199681 582 chr5:138857919:T:C 1140_695_232_H->R 0.127196 582 chr5:138857925:C:G 1140_689_230_G->A 0.267971 582 chr5:138857955:C:T 1140_659_220_R->H 0.00479233 582 chr5:138858034:C:A 1140_580_194_V->L 0.00479233 582 chr5:138860392:A:G 1140_503_168_L->P 0.000199681 582 chr5:138860779:G:T 1140_376_126_L->I 0.00479233 582 chr5:138860815:C:T 1140_340_114_G->S 0.000199681 582 chr5:138860820:G:A 1140_335_112_A->V 0.000199681 582 chr5:138860866:C:T 1140_289_97_A->T 0.000399361 582 chr5:138860922:C:T 1140_233_78_R->Q 0.000199681 582 chr5:138861078:C:T 1140_212_71_R->H 0.203075 582 chr5:138861178:C:T 1140_112_38_E->K 0.000199681 582 na12878 Variants: 582 chr5:138857919:T:C 1140_695_232_H->R 582 snyder Variants: 582 chr5:138856982:C:T 1140_878_293_R->Q 582 chr5:138857919:T:C 1140_695_232_H->R 582 chr5:138857925:C:G 1140_689_230_G->A 582 chr5:138861078:C:T 1140_212_71_R->H 583 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133710_ENST00000398454 gene_Name: ISK5_HUMAN 583 list of pdbs: 583 1UVG pdb_description: 14-Apr-05 NMR 31 Solution structure of the 15th domain of lekti 583 1UVF pdb_description: 14-Apr-05 NMR 31 Solution structure of the structured part of the 15th domain of lekti 583 1UUC pdb_description: 24-Sep-04 NMR 30 Solution structure of a chimeric lekti-domain 583 1HDL pdb_description: 15-Nov-01 NMR 21 Lekti domain one 583 1H0Z pdb_description: 26-Jun-03 NMR 21 Lekti domain six 583 Zimmer Variants: 583 chr5:147477551:C:T 2751_1004_335_A->V;GENE=SPINK5;CDSS=2;DBRECUR=SPINK5 583 chr5:147480027:G:A 2751_1103_368_S->N;GENE=SPINK5;CDSS=2;DBRECUR=SPINK5 583 chr5:147480955:A:G 2751_1258_420_K->E;GENE=SPINK5;CDSS=2;DBRECUR=SPINK5 583 chr5:147498019:G:A 2751_2132_711_R->Q;GENE=SPINK5;CDSS=2;DBRECUR=SPINK5 583 chr5:147475386:A:G 2751_800_267_Q->R;GENE=SPINK5;CDSS=1;DBRECUR=SPINK5 583 HGMD Variants: 583 chr5:147449940:C:T 2751_136_46_Q->* 583 chr5:147465992:G:T 2751_307_103_G->* 583 chr5:147470753:C:T 2751_628_210_R->* 583 chr5:147470774:C:T 2751_649_217_R->* 583 chr5:147470777:C:T 2751_652_218_R->* 583 chr5:147477547:C:T 2751_1000_334_Q->* 583 chr5:147478834:C:T 2751_1048_350_R->* 583 chr5:147480035:C:T 2751_1111_371_R->* 583 chr5:147488329:G:T 2751_1621_541_E->* 583 chr5:147491367:G:T 2751_1729_577_G->* 583 chr5:147491370:C:T 2751_1732_578_R->* 583 chr5:147496015:G:T 2751_2098_700_G->* 583 chr5:147498024:C:T 2751_2137_713_Q->* 583 chr5:147498568:A:T 2751_2260_754_K->* 583 chr5:147499626:C:T 2751_2368_790_R->* 583 chr5:147503414:C:T 2751_2557_853_R->* 583 chr5:147443662:G:A 2751_55_19_D->N 583 chr5:147466001:G:A 2751_316_106_D->N 583 chr5:147480027:G:A 2751_1103_368_S->N 583 chr5:147480955:A:G 2751_1258_420_K->E 583 chr5:147499681:C:T 2751_2423_808_T->I 583 oneKG Variants: 583 chr5:147470753:C:T 2751_628_210_R->* 0.000199681 583 chr5:147475385:C:T 2751_799_267_Q->* 0.000399361 583 chr5:147443653:C:T 2751_46_16_L->F 0.000199681 583 chr5:147444922:A:C 2751_68_23_K->T 0.000199681 583 chr5:147444924:A:T 2751_70_24_N->Y 0.000199681 583 chr5:147449923:G:C 2751_119_40_G->A 0.0123802 583 chr5:147449971:G:C 2751_167_56_G->A 0.000199681 583 chr5:147449998:C:T 2751_194_65_T->M 0.000199681 583 chr5:147466001:G:A 2751_316_106_D->N 0.0523163 583 chr5:147468112:G:A 2751_418_140_G->R 0.000199681 583 chr5:147469075:C:T 2751_493_165_R->W 0.000199681 583 chr5:147473969:C:G 2751_719_240_T->R 0.000199681 583 chr5:147473971:C:T 2751_721_241_R->W 0.000199681 583 chr5:147473990:G:A 2751_740_247_R->H 0.000199681 583 chr5:147473995:C:T 2751_745_249_P->S 0.000199681 583 chr5:147474002:G:T 2751_752_251_G->V 0.000199681 583 chr5:147475386:A:G 2751_800_267_Q->R 0.491014 583 chr5:147475388:C:T 2751_802_268_R->C 0.00658946 583 chr5:147477551:C:T 2751_1004_335_A->V 0.446486 583 chr5:147478838:C:A 2751_1052_351_A->D 0.000199681 583 chr5:147478864:G:A 2751_1078_360_A->T 0.000199681 583 chr5:147480027:G:A 2751_1103_368_S->N 0.43151 583 chr5:147480056:A:C 2751_1132_378_K->Q 0.000399361 583 chr5:147480080:G:A 2751_1156_386_D->N 0.348243 583 chr5:147480093:G:T 2751_1169_390_G->V 0.000199681 583 chr5:147480955:A:G 2751_1258_420_K->E 0.433107 583 chr5:147481362:C:T 2751_1321_441_R->C 0.000199681 583 chr5:147481363:G:A 2751_1322_441_R->H 0.0061901 583 chr5:147481400:A:C 2751_1359_453_R->S 0.000199681 583 chr5:147481420:G:T 2751_1379_460_G->V 0.000798722 583 chr5:147481435:T:G 2751_1394_465_M->R 0.000199681 583 chr5:147481455:A:T 2751_1414_472_M->L 0.000199681 583 chr5:147484534:A:G 2751_1450_484_R->G 0.000199681 583 chr5:147484535:G:A 2751_1451_484_R->K 0.000798722 583 chr5:147486618:C:T 2751_1498_500_R->W 0.000199681 583 chr5:147486631:G:A 2751_1511_504_R->K 0.000199681 583 chr5:147486645:A:G 2751_1525_509_I->V 0.000199681 583 chr5:147486660:C:A 2751_1540_514_H->N 0.000199681 583 chr5:147486667:C:G 2751_1547_516_P->R 0.000199681 583 chr5:147486672:C:T 2751_1552_518_R->C 0.00798722 583 chr5:147486673:G:A 2751_1553_518_R->H 0.000199681 583 chr5:147488368:G:A 2751_1660_554_E->K 0.000199681 583 chr5:147491402:T:G 2751_1764_588_I->M 0.0105831 583 chr5:147491413:A:G 2751_1775_592_D->G 0.000199681 583 chr5:147492449:A:T 2751_1839_613_E->D 0.000199681 583 chr5:147493943:C:T 2751_1906_636_R->W 0.000199681 583 chr5:147493992:C:T 2751_1955_652_P->L 0.000199681 583 chr5:147493998:G:A 2751_1961_654_R->H 0.000199681 583 chr5:147494001:G:A 2751_1964_655_G->D 0.000599042 583 chr5:147495959:G:A 2751_2042_681_R->K 0.000199681 583 chr5:147496027:C:G 2751_2110_704_Q->E 0.000199681 583 chr5:147498019:G:A 2751_2132_711_R->Q 0.488419 583 chr5:147498059:G:C 2751_2172_724_E->D 0.000199681 583 chr5:147498551:A:G 2751_2243_748_E->G 0.00219649 583 chr5:147498596:A:T 2751_2288_763_N->I 0.000199681 583 chr5:147499627:G:A 2751_2369_790_R->Q 0.000199681 583 chr5:147499891:G:T 2751_2475_825_E->D 0.174521 583 chr5:147503415:G:A 2751_2558_853_R->Q 0.000199681 583 chr5:147503518:C:G 2751_2661_887_S->R 0.0429313 583 na12878 Variants: 583 chr5:147477551:C:T 2751_1004_335_A->V 583 chr5:147480027:G:A 2751_1103_368_S->N 583 chr5:147480955:A:G 2751_1258_420_K->E 583 chr5:147498019:G:A 2751_2132_711_R->Q 583 chr5:147475386:A:G 2751_800_267_Q->R 583 snyder Variants: 583 chr5:147477551:C:T 2751_1004_335_A->V 583 chr5:147480027:G:A 2751_1103_368_S->N 583 chr5:147480955:A:G 2751_1258_420_K->E 583 chr5:147498019:G:A 2751_2132_711_R->Q 583 chr5:147475386:A:G 2751_800_267_Q->R 584 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133710_ENST00000359874 gene_Name: ISK5_HUMAN 584 list of pdbs: 584 1UVG pdb_description: 14-Apr-05 NMR 31 Solution structure of the 15th domain of lekti 584 1UVF pdb_description: 14-Apr-05 NMR 31 Solution structure of the structured part of the 15th domain of lekti 584 1UUC pdb_description: 24-Sep-04 NMR 30 Solution structure of a chimeric lekti-domain 584 1HDL pdb_description: 15-Nov-01 NMR 21 Lekti domain one 584 1H0Z pdb_description: 26-Jun-03 NMR 21 Lekti domain six 584 Zimmer Variants: 584 chr5:147477551:C:T 3285_1004_335_A->V 584 chr5:147480027:G:A 3285_1103_368_S->N 584 chr5:147480955:A:G 3285_1258_420_K->E 584 chr5:147498019:G:A 3285_2132_711_R->Q 584 chr5:147475386:A:G 3285_800_267_Q->R 584 HGMD Variants: 584 chr5:147449940:C:T 3285_136_46_Q->* 584 chr5:147465992:G:T 3285_307_103_G->* 584 chr5:147470753:C:T 3285_628_210_R->* 584 chr5:147470774:C:T 3285_649_217_R->* 584 chr5:147470777:C:T 3285_652_218_R->* 584 chr5:147477547:C:T 3285_1000_334_Q->* 584 chr5:147478834:C:T 3285_1048_350_R->* 584 chr5:147480035:C:T 3285_1111_371_R->* 584 chr5:147488329:G:T 3285_1621_541_E->* 584 chr5:147491367:G:T 3285_1729_577_G->* 584 chr5:147491370:C:T 3285_1732_578_R->* 584 chr5:147496015:G:T 3285_2098_700_G->* 584 chr5:147498024:C:T 3285_2137_713_Q->* 584 chr5:147498568:A:T 3285_2260_754_K->* 584 chr5:147499626:C:T 3285_2368_790_R->* 584 chr5:147503414:C:T 3285_2557_853_R->* 584 chr5:147443662:G:A 3285_55_19_D->N 584 chr5:147466001:G:A 3285_316_106_D->N 584 chr5:147480027:G:A 3285_1103_368_S->N 584 chr5:147480955:A:G 3285_1258_420_K->E 584 chr5:147499681:C:T 3285_2423_808_T->I 584 oneKG Variants: 584 chr5:147470753:C:T 3285_628_210_R->* 0.000199681 584 chr5:147475385:C:T 3285_799_267_Q->* 0.000399361 584 chr5:147505099:C:T 3285_2752_918_Q->* 0.000399361 584 chr5:147443653:C:T 3285_46_16_L->F 0.000199681 584 chr5:147444922:A:C 3285_68_23_K->T 0.000199681 584 chr5:147444924:A:T 3285_70_24_N->Y 0.000199681 584 chr5:147449923:G:C 3285_119_40_G->A 0.0123802 584 chr5:147449971:G:C 3285_167_56_G->A 0.000199681 584 chr5:147449998:C:T 3285_194_65_T->M 0.000199681 584 chr5:147466001:G:A 3285_316_106_D->N 0.0523163 584 chr5:147468112:G:A 3285_418_140_G->R 0.000199681 584 chr5:147469075:C:T 3285_493_165_R->W 0.000199681 584 chr5:147473969:C:G 3285_719_240_T->R 0.000199681 584 chr5:147473971:C:T 3285_721_241_R->W 0.000199681 584 chr5:147473990:G:A 3285_740_247_R->H 0.000199681 584 chr5:147473995:C:T 3285_745_249_P->S 0.000199681 584 chr5:147474002:G:T 3285_752_251_G->V 0.000199681 584 chr5:147475386:A:G 3285_800_267_Q->R 0.491014 584 chr5:147475388:C:T 3285_802_268_R->C 0.00658946 584 chr5:147477551:C:T 3285_1004_335_A->V 0.446486 584 chr5:147478838:C:A 3285_1052_351_A->D 0.000199681 584 chr5:147478864:G:A 3285_1078_360_A->T 0.000199681 584 chr5:147480027:G:A 3285_1103_368_S->N 0.43151 584 chr5:147480056:A:C 3285_1132_378_K->Q 0.000399361 584 chr5:147480080:G:A 3285_1156_386_D->N 0.348243 584 chr5:147480093:G:T 3285_1169_390_G->V 0.000199681 584 chr5:147480955:A:G 3285_1258_420_K->E 0.433107 584 chr5:147481362:C:T 3285_1321_441_R->C 0.000199681 584 chr5:147481363:G:A 3285_1322_441_R->H 0.0061901 584 chr5:147481400:A:C 3285_1359_453_R->S 0.000199681 584 chr5:147481420:G:T 3285_1379_460_G->V 0.000798722 584 chr5:147481435:T:G 3285_1394_465_M->R 0.000199681 584 chr5:147481455:A:T 3285_1414_472_M->L 0.000199681 584 chr5:147484534:A:G 3285_1450_484_R->G 0.000199681 584 chr5:147484535:G:A 3285_1451_484_R->K 0.000798722 584 chr5:147486618:C:T 3285_1498_500_R->W 0.000199681 584 chr5:147486631:G:A 3285_1511_504_R->K 0.000199681 584 chr5:147486645:A:G 3285_1525_509_I->V 0.000199681 584 chr5:147486660:C:A 3285_1540_514_H->N 0.000199681 584 chr5:147486667:C:G 3285_1547_516_P->R 0.000199681 584 chr5:147486672:C:T 3285_1552_518_R->C 0.00798722 584 chr5:147486673:G:A 3285_1553_518_R->H 0.000199681 584 chr5:147488368:G:A 3285_1660_554_E->K 0.000199681 584 chr5:147491402:T:G 3285_1764_588_I->M 0.0105831 584 chr5:147491413:A:G 3285_1775_592_D->G 0.000199681 584 chr5:147492449:A:T 3285_1839_613_E->D 0.000199681 584 chr5:147493943:C:T 3285_1906_636_R->W 0.000199681 584 chr5:147493992:C:T 3285_1955_652_P->L 0.000199681 584 chr5:147493998:G:A 3285_1961_654_R->H 0.000199681 584 chr5:147494001:G:A 3285_1964_655_G->D 0.000599042 584 chr5:147495959:G:A 3285_2042_681_R->K 0.000199681 584 chr5:147496027:C:G 3285_2110_704_Q->E 0.000199681 584 chr5:147498019:G:A 3285_2132_711_R->Q 0.488419 584 chr5:147498059:G:C 3285_2172_724_E->D 0.000199681 584 chr5:147498551:A:G 3285_2243_748_E->G 0.00219649 584 chr5:147498596:A:T 3285_2288_763_N->I 0.000199681 584 chr5:147499627:G:A 3285_2369_790_R->Q 0.000199681 584 chr5:147499891:G:T 3285_2475_825_E->D 0.174521 584 chr5:147503415:G:A 3285_2558_853_R->Q 0.000199681 584 chr5:147503518:C:G 3285_2661_887_S->R 0.0429313 584 chr5:147505093:T:C 3285_2746_916_C->R 0.000199681 584 chr5:147505122:T:G 3285_2775_925_D->E 0.000199681 584 chr5:147505126:A:C 3285_2779_927_K->Q 0.000199681 584 chr5:147505305:G:A 3285_2849_950_R->Q 0.000399361 584 chr5:147505308:A:G 3285_2852_951_N->S 0.0147764 584 chr5:147505341:G:A 3285_2885_962_R->K 0.00139776 584 chr5:147505395:A:G 3285_2939_980_Y->C 0.000199681 584 chr5:147505410:T:C 3285_2954_985_V->A 0.0105831 584 chr5:147506583:A:G 3285_2995_999_K->E 0.00638978 584 chr5:147506593:A:G 3285_3005_1002_H->R 0.0101837 584 chr5:147506641:T:C 3285_3053_1018_L->P 0.000199681 584 chr5:147510832:T:C 3285_3065_1022_M->T 0.000199681 584 na12878 Variants: 584 chr5:147477551:C:T 3285_1004_335_A->V 584 chr5:147480027:G:A 3285_1103_368_S->N 584 chr5:147480955:A:G 3285_1258_420_K->E 584 chr5:147498019:G:A 3285_2132_711_R->Q 584 chr5:147475386:A:G 3285_800_267_Q->R 584 snyder Variants: 584 chr5:147477551:C:T 3285_1004_335_A->V 584 chr5:147480027:G:A 3285_1103_368_S->N 584 chr5:147480955:A:G 3285_1258_420_K->E 584 chr5:147498019:G:A 3285_2132_711_R->Q 584 chr5:147475386:A:G 3285_800_267_Q->R 585 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000133710_ENST00000256084 gene_Name: ISK5_HUMAN 585 list of pdbs: 585 1UVG pdb_description: 14-Apr-05 NMR 31 Solution structure of the 15th domain of lekti 585 1UVF pdb_description: 14-Apr-05 NMR 31 Solution structure of the structured part of the 15th domain of lekti 585 1UUC pdb_description: 24-Sep-04 NMR 30 Solution structure of a chimeric lekti-domain 585 1HDL pdb_description: 15-Nov-01 NMR 21 Lekti domain one 585 1H0Z pdb_description: 26-Jun-03 NMR 21 Lekti domain six 585 Zimmer Variants: 585 chr5:147477551:C:T 3195_1004_335_A->V 585 chr5:147480027:G:A 3195_1103_368_S->N 585 chr5:147480955:A:G 3195_1258_420_K->E 585 chr5:147498019:G:A 3195_2132_711_R->Q 585 chr5:147475386:A:G 3195_800_267_Q->R 585 HGMD Variants: 585 chr5:147449940:C:T 3195_136_46_Q->* 585 chr5:147465992:G:T 3195_307_103_G->* 585 chr5:147470753:C:T 3195_628_210_R->* 585 chr5:147470774:C:T 3195_649_217_R->* 585 chr5:147470777:C:T 3195_652_218_R->* 585 chr5:147477547:C:T 3195_1000_334_Q->* 585 chr5:147478834:C:T 3195_1048_350_R->* 585 chr5:147480035:C:T 3195_1111_371_R->* 585 chr5:147488329:G:T 3195_1621_541_E->* 585 chr5:147491367:G:T 3195_1729_577_G->* 585 chr5:147491370:C:T 3195_1732_578_R->* 585 chr5:147496015:G:T 3195_2098_700_G->* 585 chr5:147498024:C:T 3195_2137_713_Q->* 585 chr5:147498568:A:T 3195_2260_754_K->* 585 chr5:147499626:C:T 3195_2368_790_R->* 585 chr5:147503414:C:T 3195_2557_853_R->* 585 chr5:147443662:G:A 3195_55_19_D->N 585 chr5:147466001:G:A 3195_316_106_D->N 585 chr5:147480027:G:A 3195_1103_368_S->N 585 chr5:147480955:A:G 3195_1258_420_K->E 585 chr5:147499681:C:T 3195_2423_808_T->I 585 oneKG Variants: 585 chr5:147470753:C:T 3195_628_210_R->* 0.000199681 585 chr5:147475385:C:T 3195_799_267_Q->* 0.000399361 585 chr5:147443653:C:T 3195_46_16_L->F 0.000199681 585 chr5:147444922:A:C 3195_68_23_K->T 0.000199681 585 chr5:147444924:A:T 3195_70_24_N->Y 0.000199681 585 chr5:147449923:G:C 3195_119_40_G->A 0.0123802 585 chr5:147449971:G:C 3195_167_56_G->A 0.000199681 585 chr5:147449998:C:T 3195_194_65_T->M 0.000199681 585 chr5:147466001:G:A 3195_316_106_D->N 0.0523163 585 chr5:147468112:G:A 3195_418_140_G->R 0.000199681 585 chr5:147469075:C:T 3195_493_165_R->W 0.000199681 585 chr5:147473969:C:G 3195_719_240_T->R 0.000199681 585 chr5:147473971:C:T 3195_721_241_R->W 0.000199681 585 chr5:147473990:G:A 3195_740_247_R->H 0.000199681 585 chr5:147473995:C:T 3195_745_249_P->S 0.000199681 585 chr5:147474002:G:T 3195_752_251_G->V 0.000199681 585 chr5:147475386:A:G 3195_800_267_Q->R 0.491014 585 chr5:147475388:C:T 3195_802_268_R->C 0.00658946 585 chr5:147477551:C:T 3195_1004_335_A->V 0.446486 585 chr5:147478838:C:A 3195_1052_351_A->D 0.000199681 585 chr5:147478864:G:A 3195_1078_360_A->T 0.000199681 585 chr5:147480027:G:A 3195_1103_368_S->N 0.43151 585 chr5:147480056:A:C 3195_1132_378_K->Q 0.000399361 585 chr5:147480080:G:A 3195_1156_386_D->N 0.348243 585 chr5:147480093:G:T 3195_1169_390_G->V 0.000199681 585 chr5:147480955:A:G 3195_1258_420_K->E 0.433107 585 chr5:147481362:C:T 3195_1321_441_R->C 0.000199681 585 chr5:147481363:G:A 3195_1322_441_R->H 0.0061901 585 chr5:147481400:A:C 3195_1359_453_R->S 0.000199681 585 chr5:147481420:G:T 3195_1379_460_G->V 0.000798722 585 chr5:147481435:T:G 3195_1394_465_M->R 0.000199681 585 chr5:147481455:A:T 3195_1414_472_M->L 0.000199681 585 chr5:147484534:A:G 3195_1450_484_R->G 0.000199681 585 chr5:147484535:G:A 3195_1451_484_R->K 0.000798722 585 chr5:147486618:C:T 3195_1498_500_R->W 0.000199681 585 chr5:147486631:G:A 3195_1511_504_R->K 0.000199681 585 chr5:147486645:A:G 3195_1525_509_I->V 0.000199681 585 chr5:147486660:C:A 3195_1540_514_H->N 0.000199681 585 chr5:147486667:C:G 3195_1547_516_P->R 0.000199681 585 chr5:147486672:C:T 3195_1552_518_R->C 0.00798722 585 chr5:147486673:G:A 3195_1553_518_R->H 0.000199681 585 chr5:147488368:G:A 3195_1660_554_E->K 0.000199681 585 chr5:147491402:T:G 3195_1764_588_I->M 0.0105831 585 chr5:147491413:A:G 3195_1775_592_D->G 0.000199681 585 chr5:147492449:A:T 3195_1839_613_E->D 0.000199681 585 chr5:147493943:C:T 3195_1906_636_R->W 0.000199681 585 chr5:147493992:C:T 3195_1955_652_P->L 0.000199681 585 chr5:147493998:G:A 3195_1961_654_R->H 0.000199681 585 chr5:147494001:G:A 3195_1964_655_G->D 0.000599042 585 chr5:147495959:G:A 3195_2042_681_R->K 0.000199681 585 chr5:147496027:C:G 3195_2110_704_Q->E 0.000199681 585 chr5:147498019:G:A 3195_2132_711_R->Q 0.488419 585 chr5:147498059:G:C 3195_2172_724_E->D 0.000199681 585 chr5:147498551:A:G 3195_2243_748_E->G 0.00219649 585 chr5:147498596:A:T 3195_2288_763_N->I 0.000199681 585 chr5:147499627:G:A 3195_2369_790_R->Q 0.000199681 585 chr5:147499891:G:T 3195_2475_825_E->D 0.174521 585 chr5:147503415:G:A 3195_2558_853_R->Q 0.000199681 585 chr5:147503518:C:G 3195_2661_887_S->R 0.0429313 585 chr5:147505305:G:A 3195_2759_920_R->Q 0.000399361 585 chr5:147505308:A:G 3195_2762_921_N->S 0.0147764 585 chr5:147505341:G:A 3195_2795_932_R->K 0.00139776 585 chr5:147505395:A:G 3195_2849_950_Y->C 0.000199681 585 chr5:147505410:T:C 3195_2864_955_V->A 0.0105831 585 chr5:147506583:A:G 3195_2905_969_K->E 0.00638978 585 chr5:147506593:A:G 3195_2915_972_H->R 0.0101837 585 chr5:147506641:T:C 3195_2963_988_L->P 0.000199681 585 chr5:147510832:T:C 3195_2975_992_M->T 0.000199681 585 na12878 Variants: 585 chr5:147477551:C:T 3195_1004_335_A->V 585 chr5:147480027:G:A 3195_1103_368_S->N 585 chr5:147480955:A:G 3195_1258_420_K->E 585 chr5:147498019:G:A 3195_2132_711_R->Q 585 chr5:147475386:A:G 3195_800_267_Q->R 585 snyder Variants: 585 chr5:147477551:C:T 3195_1004_335_A->V 585 chr5:147480027:G:A 3195_1103_368_S->N 585 chr5:147480955:A:G 3195_1258_420_K->E 585 chr5:147498019:G:A 3195_2132_711_R->Q 585 chr5:147475386:A:G 3195_800_267_Q->R 586 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000131187_ENST00000253496 gene_Name: FA12_HUMAN 586 list of pdbs: 586 4BDX pdb_description: 13-Feb-13 X-ray 1.620 The structure of the fni-egf tandem domain of coagulation fa 586 4BDW pdb_description: 13-Feb-13 X-ray 2.500 The structure of the fni-egf tandem domain of coagulation fa in complex with holmium 586 Zimmer Variants: 586 chr5:176831826:C:G 1848_619_207_A->P;GENE=F12;CDSS=2 586 HGMD Variants: 586 chr5:176829673:G:A 1848_1558_520_Q->* 586 chr5:176832179:G:T 1848_405_135_C->* 586 chr5:176829373:A:T 1848_1768_590_C->S 586 chr5:176829376:C:G 1848_1765_589_G->R 586 chr5:176829397:C:T 1848_1744_582_G->S 586 chr5:176829444:G:A 1848_1697_566_P->L 586 chr5:176829460:C:T 1848_1681_561_G->S 586 chr5:176829582:C:T 1848_1649_550_G->E 586 chr5:176829648:G:A 1848_1583_528_S->F 586 chr5:176830271:C:G 1848_1515_505_W->C 586 chr5:176830390:G:T 1848_1396_466_R->S 586 chr5:176830488:C:T 1848_1381_461_D->N 586 chr5:176830551:G:T 1848_1318_440_Q->K 586 chr5:176830860:C:T 1848_1250_417_R->Q 586 chr5:176830870:G:T 1848_1240_414_L->M 586 chr5:176830879:C:T 1848_1231_411_A->T 586 chr5:176830995:C:G 1848_1115_372_R->P 586 chr5:176831015:C:G 1848_1095_365_K->N 586 chr5:176831083:C:G 1848_1027_343_A->P 586 chr5:176831232:G:C 1848_983_328_T->R 586 chr5:176831232:G:T 1848_983_328_T->K 586 chr5:176831236:G:A 1848_979_327_P->S 586 chr5:176831579:A:C 1848_721_241_W->G 586 chr5:176832159:C:G 1848_425_142_R->P 586 chr5:176832166:G:C 1848_418_140_L->V 586 chr5:176832771:C:G 1848_251_84_R->P 586 chr5:176832804:C:G 1848_218_73_C->S 586 chr5:176833020:T:C 1848_158_53_Y->C 586 oneKG Variants: 586 chr5:176829415:G:A 1848_1726_576_R->C 0.000199681 586 chr5:176829661:C:A 1848_1570_524_V->L 0.000199681 586 chr5:176829670:C:T 1848_1561_521_E->K 0.000199681 586 chr5:176830514:G:T 1848_1355_452_A->D 0.000199681 586 chr5:176830527:G:A 1848_1342_448_R->C 0.00898562 586 chr5:176831055:G:T 1848_1055_352_T->N 0.000199681 586 chr5:176831083:C:G 1848_1027_343_A->P 0.00419329 586 chr5:176831085:G:A 1848_1025_342_P->L 0.000798722 586 chr5:176831232:G:T 1848_983_328_T->K 0.000199681 586 chr5:176831263:C:T 1848_952_318_A->T 0.000199681 586 chr5:176831285:C:G 1848_930_310_R->S 0.00499201 586 chr5:176831292:G:T 1848_923_308_S->Y 0.000998403 586 chr5:176831293:A:T 1848_922_308_S->T 0.000399361 586 chr5:176831314:C:G 1848_901_301_A->P 0.000199681 586 chr5:176831370:C:T 1848_845_282_R->H 0.000199681 586 chr5:176831543:C:G 1848_757_253_E->Q 0.000599042 586 chr5:176831558:G:A 1848_742_248_R->W 0.000199681 586 chr5:176831826:C:G 1848_619_207_A->P 0.060503 586 chr5:176831864:C:G 1848_581_194_G->A 0.000199681 586 chr5:176832109:C:T 1848_475_159_A->T 0.000199681 586 chr5:176832160:G:C 1848_424_142_R->G 0.000199681 586 chr5:176832166:G:C 1848_418_140_L->V 0.00179712 586 chr5:176832362:A:T 1848_359_120_L->H 0.000399361 586 chr5:176832425:C:G 1848_296_99_S->T 0.000199681 586 chr5:176832775:G:T 1848_247_83_Q->K 0.000199681 586 chr5:176832804:C:G 1848_218_73_C->S 0.000199681 586 chr5:176832982:G:A 1848_196_66_R->W 0.000998403 586 chr5:176832999:T:C 1848_179_60_K->R 0.000599042 586 chr5:176836047:C:T 1848_115_39_V->I 0.00319489 586 chr5:176836473:G:A 1848_56_19_S->L 0.000199681 586 chr5:176836477:G:A 1848_52_18_L->F 0.000199681 586 na12878 Variants: 586 chr5:176831826:C:G 1848_619_207_A->P 586 snyder Variants: 586 chr5:176831826:C:G 1848_619_207_A->P 587 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000037280_ENST00000261937 gene_Name: VGFR3_HUMAN 587 list of pdbs: 587 4BSJ pdb_description: 31-Jul-13 X-ray 2.500 Crystal structure of vegfr-3 extracellular domains d4-5 587 4BSK pdb_description: 31-Jul-13 X-ray 4.200 Crystal structure of vegf-c in complex with vegfr-3 domains 587 Zimmer Variants: 587 chr5:180046344:G:C 4092_2670_890_H->Q 587 HGMD Variants: 587 chr5:180039610:G:A 4092_3433_1145_R->C 587 chr5:180040032:G:A 4092_3410_1137_P->L 587 chr5:180040051:C:G 4092_3391_1131_G->R 587 chr5:180040051:C:T 4092_3391_1131_G->S 587 chr5:180040098:T:C 4092_3344_1115_Y->C 587 chr5:180040101:G:A 4092_3341_1114_P->L 587 chr5:180041076:A:G 4092_3323_1108_F->S 587 chr5:180041081:C:A 4092_3318_1106_E->D 587 chr5:180041083:C:T 4092_3316_1106_E->K 587 chr5:180041089:G:A 4092_3310_1104_L->F 587 chr5:180041091:A:G 4092_3308_1103_L->P 587 chr5:180041142:A:G 4092_3257_1086_I->T 587 chr5:180041149:C:T 4092_3250_1084_E->K 587 chr5:180041157:A:C 4092_3242_1081_M->R 587 chr5:180043416:C:T 4092_3170_1057_G->D 587 chr5:180043422:T:G 4092_3164_1055_D->A 587 chr5:180043422:T:A 4092_3164_1055_D->V 587 chr5:180043429:T:A 4092_3157_1053_I->F 587 chr5:180043435:C:T 4092_3151_1051_V->M 587 chr5:180043455:A:G 4092_3131_1044_L->P 587 chr5:180043461:T:C 4092_3125_1042_N->S 587 chr5:180043464:C:T 4092_3122_1041_R->Q 587 chr5:180043464:C:G 4092_3122_1041_R->P 587 chr5:180043465:G:C 4092_3121_1041_R->G 587 chr5:180043465:G:A 4092_3121_1041_R->W 587 chr5:180043467:G:T 4092_3119_1040_A->D 587 chr5:180043475:G:T 4092_3111_1037_D->E 587 chr5:180043477:C:G 4092_3109_1037_D->H 587 chr5:180043477:C:A 4092_3109_1037_D->Y 587 chr5:180043481:G:C 4092_3105_1035_H->Q 587 chr5:180043482:T:C 4092_3104_1035_H->R 587 chr5:180043489:A:C 4092_3097_1033_C->G 587 chr5:180043921:C:T 4092_3075_1025_M->I 587 chr5:180043925:C:T 4092_3071_1024_G->E 587 chr5:180043926:C:T 4092_3070_1024_G->R 587 chr5:180043937:T:A 4092_3059_1020_Q->L 587 chr5:180043940:A:G 4092_3056_1019_F->S 587 chr5:180043942:G:T 4092_3054_1018_S->R 587 chr5:180046043:C:G 4092_2828_943_R->P 587 chr5:180046052:C:G 4092_2819_940_R->P 587 chr5:180046071:T:A 4092_2800_934_N->Y 587 chr5:180046074:C:G 4092_2797_933_G->R 587 chr5:180046094:A:G 4092_2777_926_I->T 587 chr5:180046265:T:G 4092_2749_917_T->P 587 chr5:180046266:G:C 4092_2748_916_C->W 587 chr5:180046270:G:T 4092_2744_915_A->E 587 chr5:180046271:C:G 4092_2743_915_A->P 587 chr5:180046274:C:A 4092_2740_914_G->W 587 chr5:180046274:C:G 4092_2740_914_G->R 587 chr5:180046337:G:C 4092_2677_893_L->V 587 chr5:180046680:C:T 4092_2632_878_V->M 587 chr5:180046683:C:T 4092_2629_877_A->T 587 chr5:180046686:C:A 4092_2626_876_V->L 587 chr5:180046725:A:G 4092_2587_863_S->P 587 chr5:180046727:G:A 4092_2585_862_A->V 587 chr5:180046737:C:T 4092_2575_859_V->M 587 chr5:180046743:C:T 4092_2569_857_G->R 587 chr5:180046749:C:T 4092_2563_855_A->T 587 chr5:180046752:C:G 4092_2560_854_G->R 587 chr5:180046752:C:T 4092_2560_854_G->S 587 chr5:180046757:C:A 4092_2555_852_G->V 587 chr5:180046758:C:T 4092_2554_852_G->S 587 chr5:180046758:C:G 4092_2554_852_G->R 587 chr5:180046758:C:A 4092_2554_852_G->C 587 chr5:180047184:C:G 4092_2531_844_R->P 587 oneKG Variants: 587 chr5:180030221:C:T 4092_4063_1355_V->M 0.00139776 587 chr5:180030223:C:T 4092_4061_1354_R->H 0.000599042 587 chr5:180030278:C:T 4092_4006_1336_E->K 0.00239617 587 chr5:180030290:A:G 4092_3994_1332_F->L 0.000199681 587 chr5:180030322:C:T 4092_3962_1321_R->Q 0.00359425 587 chr5:180030325:C:T 4092_3959_1320_R->Q 0.0219649 587 chr5:180030326:G:A 4092_3958_1320_R->W 0.0 587 chr5:180030328:C:T 4092_3956_1319_R->Q 0.000199681 587 chr5:180030329:G:A 4092_3955_1319_R->W 0.000399361 587 chr5:180030346:G:A 4092_3938_1313_P->L 0.000199681 587 chr5:180030376:C:G 4092_3908_1303_G->A 0.00339457 587 chr5:180036046:T:C 4092_3815_1272_Q->R 0.000199681 587 chr5:180036959:C:A 4092_3753_1251_R->S 0.000199681 587 chr5:180038357:G:C 4092_3660_1220_S->R 0.000199681 587 chr5:180038364:G:A 4092_3653_1218_P->L 0.000199681 587 chr5:180038418:G:A 4092_3599_1200_S->L 0.000199681 587 chr5:180038452:G:A 4092_3565_1189_R->C 0.000199681 587 chr5:180039521:C:G 4092_3522_1174_Q->H 0.000199681 587 chr5:180039583:C:T 4092_3460_1154_G->R 0.00838658 587 chr5:180039606:C:T 4092_3437_1146_R->H 0.0341454 587 chr5:180040036:C:A 4092_3406_1136_A->S 0.000199681 587 chr5:180041167:G:C 4092_3232_1078_L->V 0.000199681 587 chr5:180045770:C:T 4092_3001_1001_A->T 0.000199681 587 chr5:180045784:G:A 4092_2987_996_S->F 0.000199681 587 chr5:180045787:G:A 4092_2984_995_A->V 0.000998403 587 chr5:180045875:G:A 4092_2896_966_L->F 0.000798722 587 chr5:180045911:G:A 4092_2860_954_P->S 0.00339457 587 chr5:180046259:G:A 4092_2755_919_P->S 0.000199681 587 chr5:180046344:G:C 4092_2670_890_H->Q 0.417332 587 chr5:180046710:G:A 4092_2602_868_H->Y 0.000199681 587 chr5:180046749:C:T 4092_2563_855_A->T 0.000199681 587 chr5:180046766:C:T 4092_2546_849_R->K 0.000599042 587 chr5:180047215:C:T 4092_2500_834_D->N 0.000399361 587 chr5:180047256:C:G 4092_2459_820_G->A 0.000199681 587 chr5:180047305:C:T 4092_2410_804_A->T 0.000199681 587 chr5:180047632:G:T 4092_2383_795_L->I 0.000199681 587 chr5:180047668:C:T 4092_2347_783_G->S 0.000199681 587 chr5:180047941:C:T 4092_2234_745_R->H 0.000199681 587 chr5:180047942:G:A 4092_2233_745_R->C 0.000199681 587 chr5:180047954:C:T 4092_2221_741_E->K 0.000199681 587 chr5:180048126:C:T 4092_2147_716_R->K 0.000199681 587 chr5:180048214:G:C 4092_2059_687_L->V 0.00119808 587 chr5:180048589:C:T 4092_1973_658_R->Q 0.000199681 587 chr5:180048641:G:A 4092_1921_641_P->S 0.00119808 587 chr5:180048651:G:C 4092_1911_637_S->R 0.00119808 587 chr5:180048680:C:T 4092_1882_628_A->T 0.000199681 587 chr5:180048737:C:G 4092_1825_609_D->H 0.000199681 587 chr5:180049806:C:T 4092_1582_528_V->M 0.000399361 587 chr5:180049808:T:C 4092_1580_527_N->S 0.0259585 587 chr5:180051003:T:C 4092_1480_494_T->A 0.0529153 587 chr5:180051039:G:A 4092_1444_482_L->F 0.000199681 587 chr5:180052875:C:T 4092_1415_472_R->H 0.000399361 587 chr5:180052965:G:A 4092_1325_442_A->V 0.000199681 587 chr5:180052967:C:G 4092_1323_441_Q->H 0.00159744 587 chr5:180053126:C:T 4092_1243_415_E->K 0.000199681 587 chr5:180053174:G:C 4092_1195_399_L->V 0.000199681 587 chr5:180053190:G:C 4092_1179_393_S->R 0.000199681 587 chr5:180053236:C:T 4092_1133_378_R->H 0.000599042 587 chr5:180053258:C:T 4092_1111_371_D->N 0.000199681 587 chr5:180055892:C:T 4092_1093_365_E->K 0.000199681 587 chr5:180055936:T:A 4092_1049_350_E->V 0.00479233 587 chr5:180056291:C:T 4092_953_318_R->Q 0.000199681 587 chr5:180056346:C:T 4092_898_300_V->I 0.000199681 587 chr5:180056396:C:T 4092_848_283_R->H 0.000199681 587 chr5:180056422:C:G 4092_822_274_E->D 0.000199681 587 chr5:180056832:T:C 4092_680_227_N->S 0.000399361 587 chr5:180057009:G:C 4092_610_204_L->V 0.000199681 587 chr5:180057254:T:C 4092_484_162_I->V 0.000199681 587 chr5:180057263:G:C 4092_475_159_L->V 0.000599042 587 chr5:180057293:T:C 4092_445_149_N->D 0.0389377 587 chr5:180057594:C:T 4092_361_121_E->K 0.000399361 587 chr5:180057650:T:C 4092_305_102_H->R 0.000399361 587 chr5:180057674:T:C 4092_281_94_K->R 0.000199681 587 chr5:180057702:C:T 4092_253_85_E->K 0.000199681 587 chr5:180057710:C:T 4092_245_82_R->Q 0.000199681 587 chr5:180057729:C:T 4092_226_76_E->K 0.00199681 587 chr5:180057749:G:A 4092_206_69_A->V 0.000199681 587 chr5:180058761:A:C 4092_76_26_S->A 0.0061901 587 chr5:180076533:C:A 4092_13_5_A->S 0.000399361 587 na12878 Variants: 587 chr5:180045911:G:A 4092_2860_954_P->S 587 chr5:180030322:C:T 4092_3962_1321_R->Q 587 snyder Variants: 587 chr5:180051003:T:C 4092_1480_494_T->A 587 chr5:180030313:C:G 4092_3971_1324_R->P 587 chr5:180046344:G:C 4092_2670_890_H->Q 588 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000037280_ENST00000393347 gene_Name: VGFR3_HUMAN 588 list of pdbs: 588 4BSJ pdb_description: 31-Jul-13 X-ray 2.500 Crystal structure of vegfr-3 extracellular domains d4-5 588 4BSK pdb_description: 31-Jul-13 X-ray 4.200 Crystal structure of vegf-c in complex with vegfr-3 domains 588 Zimmer Variants: 588 chr5:180046344:G:C 3897_2670_890_H->Q;GNEG=Yes;GENE=FLT4;CANG=[actionable];CDSS=2 588 HGMD Variants: 588 chr5:180039610:G:A 3897_3433_1145_R->C 588 chr5:180040032:G:A 3897_3410_1137_P->L 588 chr5:180040051:C:G 3897_3391_1131_G->R 588 chr5:180040051:C:T 3897_3391_1131_G->S 588 chr5:180040098:T:C 3897_3344_1115_Y->C 588 chr5:180040101:G:A 3897_3341_1114_P->L 588 chr5:180041076:A:G 3897_3323_1108_F->S 588 chr5:180041081:C:A 3897_3318_1106_E->D 588 chr5:180041083:C:T 3897_3316_1106_E->K 588 chr5:180041089:G:A 3897_3310_1104_L->F 588 chr5:180041091:A:G 3897_3308_1103_L->P 588 chr5:180041142:A:G 3897_3257_1086_I->T 588 chr5:180041149:C:T 3897_3250_1084_E->K 588 chr5:180041157:A:C 3897_3242_1081_M->R 588 chr5:180043416:C:T 3897_3170_1057_G->D 588 chr5:180043422:T:G 3897_3164_1055_D->A 588 chr5:180043422:T:A 3897_3164_1055_D->V 588 chr5:180043429:T:A 3897_3157_1053_I->F 588 chr5:180043435:C:T 3897_3151_1051_V->M 588 chr5:180043455:A:G 3897_3131_1044_L->P 588 chr5:180043461:T:C 3897_3125_1042_N->S 588 chr5:180043464:C:T 3897_3122_1041_R->Q 588 chr5:180043464:C:G 3897_3122_1041_R->P 588 chr5:180043465:G:C 3897_3121_1041_R->G 588 chr5:180043465:G:A 3897_3121_1041_R->W 588 chr5:180043467:G:T 3897_3119_1040_A->D 588 chr5:180043475:G:T 3897_3111_1037_D->E 588 chr5:180043477:C:G 3897_3109_1037_D->H 588 chr5:180043477:C:A 3897_3109_1037_D->Y 588 chr5:180043481:G:C 3897_3105_1035_H->Q 588 chr5:180043482:T:C 3897_3104_1035_H->R 588 chr5:180043489:A:C 3897_3097_1033_C->G 588 chr5:180043921:C:T 3897_3075_1025_M->I 588 chr5:180043925:C:T 3897_3071_1024_G->E 588 chr5:180043926:C:T 3897_3070_1024_G->R 588 chr5:180043937:T:A 3897_3059_1020_Q->L 588 chr5:180043940:A:G 3897_3056_1019_F->S 588 chr5:180043942:G:T 3897_3054_1018_S->R 588 chr5:180046043:C:G 3897_2828_943_R->P 588 chr5:180046052:C:G 3897_2819_940_R->P 588 chr5:180046071:T:A 3897_2800_934_N->Y 588 chr5:180046074:C:G 3897_2797_933_G->R 588 chr5:180046094:A:G 3897_2777_926_I->T 588 chr5:180046265:T:G 3897_2749_917_T->P 588 chr5:180046266:G:C 3897_2748_916_C->W 588 chr5:180046270:G:T 3897_2744_915_A->E 588 chr5:180046271:C:G 3897_2743_915_A->P 588 chr5:180046274:C:A 3897_2740_914_G->W 588 chr5:180046274:C:G 3897_2740_914_G->R 588 chr5:180046337:G:C 3897_2677_893_L->V 588 chr5:180046680:C:T 3897_2632_878_V->M 588 chr5:180046683:C:T 3897_2629_877_A->T 588 chr5:180046686:C:A 3897_2626_876_V->L 588 chr5:180046725:A:G 3897_2587_863_S->P 588 chr5:180046727:G:A 3897_2585_862_A->V 588 chr5:180046737:C:T 3897_2575_859_V->M 588 chr5:180046743:C:T 3897_2569_857_G->R 588 chr5:180046749:C:T 3897_2563_855_A->T 588 chr5:180046752:C:G 3897_2560_854_G->R 588 chr5:180046752:C:T 3897_2560_854_G->S 588 chr5:180046757:C:A 3897_2555_852_G->V 588 chr5:180046758:C:T 3897_2554_852_G->S 588 chr5:180046758:C:G 3897_2554_852_G->R 588 chr5:180046758:C:A 3897_2554_852_G->C 588 chr5:180047184:C:G 3897_2531_844_R->P 588 oneKG Variants: 588 chr5:180036046:T:C 3897_3815_1272_Q->R 0.000199681 588 chr5:180036959:C:A 3897_3753_1251_R->S 0.000199681 588 chr5:180038357:G:C 3897_3660_1220_S->R 0.000199681 588 chr5:180038364:G:A 3897_3653_1218_P->L 0.000199681 588 chr5:180038418:G:A 3897_3599_1200_S->L 0.000199681 588 chr5:180038452:G:A 3897_3565_1189_R->C 0.000199681 588 chr5:180039521:C:G 3897_3522_1174_Q->H 0.000199681 588 chr5:180039583:C:T 3897_3460_1154_G->R 0.00838658 588 chr5:180039606:C:T 3897_3437_1146_R->H 0.0341454 588 chr5:180040036:C:A 3897_3406_1136_A->S 0.000199681 588 chr5:180041167:G:C 3897_3232_1078_L->V 0.000199681 588 chr5:180045770:C:T 3897_3001_1001_A->T 0.000199681 588 chr5:180045784:G:A 3897_2987_996_S->F 0.000199681 588 chr5:180045787:G:A 3897_2984_995_A->V 0.000998403 588 chr5:180045875:G:A 3897_2896_966_L->F 0.000798722 588 chr5:180045911:G:A 3897_2860_954_P->S 0.00339457 588 chr5:180046259:G:A 3897_2755_919_P->S 0.000199681 588 chr5:180046344:G:C 3897_2670_890_H->Q 0.417332 588 chr5:180046710:G:A 3897_2602_868_H->Y 0.000199681 588 chr5:180046749:C:T 3897_2563_855_A->T 0.000199681 588 chr5:180046766:C:T 3897_2546_849_R->K 0.000599042 588 chr5:180047215:C:T 3897_2500_834_D->N 0.000399361 588 chr5:180047256:C:G 3897_2459_820_G->A 0.000199681 588 chr5:180047305:C:T 3897_2410_804_A->T 0.000199681 588 chr5:180047632:G:T 3897_2383_795_L->I 0.000199681 588 chr5:180047668:C:T 3897_2347_783_G->S 0.000199681 588 chr5:180047941:C:T 3897_2234_745_R->H 0.000199681 588 chr5:180047942:G:A 3897_2233_745_R->C 0.000199681 588 chr5:180047954:C:T 3897_2221_741_E->K 0.000199681 588 chr5:180048126:C:T 3897_2147_716_R->K 0.000199681 588 chr5:180048214:G:C 3897_2059_687_L->V 0.00119808 588 chr5:180048589:C:T 3897_1973_658_R->Q 0.000199681 588 chr5:180048641:G:A 3897_1921_641_P->S 0.00119808 588 chr5:180048651:G:C 3897_1911_637_S->R 0.00119808 588 chr5:180048680:C:T 3897_1882_628_A->T 0.000199681 588 chr5:180048737:C:G 3897_1825_609_D->H 0.000199681 588 chr5:180049806:C:T 3897_1582_528_V->M 0.000399361 588 chr5:180049808:T:C 3897_1580_527_N->S 0.0259585 588 chr5:180051003:T:C 3897_1480_494_T->A 0.0529153 588 chr5:180051039:G:A 3897_1444_482_L->F 0.000199681 588 chr5:180052875:C:T 3897_1415_472_R->H 0.000399361 588 chr5:180052965:G:A 3897_1325_442_A->V 0.000199681 588 chr5:180052967:C:G 3897_1323_441_Q->H 0.00159744 588 chr5:180053126:C:T 3897_1243_415_E->K 0.000199681 588 chr5:180053174:G:C 3897_1195_399_L->V 0.000199681 588 chr5:180053190:G:C 3897_1179_393_S->R 0.000199681 588 chr5:180053236:C:T 3897_1133_378_R->H 0.000599042 588 chr5:180053258:C:T 3897_1111_371_D->N 0.000199681 588 chr5:180055892:C:T 3897_1093_365_E->K 0.000199681 588 chr5:180055936:T:A 3897_1049_350_E->V 0.00479233 588 chr5:180056291:C:T 3897_953_318_R->Q 0.000199681 588 chr5:180056346:C:T 3897_898_300_V->I 0.000199681 588 chr5:180056396:C:T 3897_848_283_R->H 0.000199681 588 chr5:180056422:C:G 3897_822_274_E->D 0.000199681 588 chr5:180056832:T:C 3897_680_227_N->S 0.000399361 588 chr5:180057009:G:C 3897_610_204_L->V 0.000199681 588 chr5:180057254:T:C 3897_484_162_I->V 0.000199681 588 chr5:180057263:G:C 3897_475_159_L->V 0.000599042 588 chr5:180057293:T:C 3897_445_149_N->D 0.0389377 588 chr5:180057594:C:T 3897_361_121_E->K 0.000399361 588 chr5:180057650:T:C 3897_305_102_H->R 0.000399361 588 chr5:180057674:T:C 3897_281_94_K->R 0.000199681 588 chr5:180057702:C:T 3897_253_85_E->K 0.000199681 588 chr5:180057710:C:T 3897_245_82_R->Q 0.000199681 588 chr5:180057729:C:T 3897_226_76_E->K 0.00199681 588 chr5:180057749:G:A 3897_206_69_A->V 0.000199681 588 chr5:180058761:A:C 3897_76_26_S->A 0.0061901 588 chr5:180076533:C:A 3897_13_5_A->S 0.000399361 588 na12878 Variants: 588 chr5:180045911:G:A 3897_2860_954_P->S 588 snyder Variants: 588 chr5:180051003:T:C 3897_1480_494_T->A 588 chr5:180046344:G:C 3897_2670_890_H->Q 589 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112936_ENST00000313164 gene_Name: CO7_HUMAN 589 list of pdbs: 589 2WCY pdb_description: 19-May-09 NMR 48 Nmr solution structure of factor i-like modules of complement c7. 589 Zimmer Variants: 589 chr5:40955561:G:C 2532_1166_389_S->T;HUB=PPI;GENE=C7;CDSS=2;DBRECUR=C7 589 chr5:40964852:A:C 2532_1759_587_T->P;HUB=PPI;GENE=C7;CDSS=2;DBRECUR=C7 589 HGMD Variants: 589 chr5:40931193:G:A 2532_90_30_W->* 589 chr5:40945347:G:A 2532_615_205_W->* 589 chr5:40958332:T:A 2532_1458_486_C->* 589 chr5:40972579:G:T 2532_1957_653_E->* 589 chr5:40976884:C:T 2532_2107_703_Q->* 589 chr5:40979911:T:A 2532_2250_750_C->* 589 chr5:40934477:T:G 2532_189_63_C->W 589 chr5:40945391:G:A 2532_659_220_R->Q 589 chr5:40955530:G:C 2532_1135_379_G->R 589 chr5:40958298:G:A 2532_1424_475_C->Y 589 chr5:40959622:C:A 2532_1561_521_R->S 589 chr5:40964852:A:C 2532_1759_587_T->P 589 chr5:40972666:G:C 2532_2044_682_E->Q 589 chr5:40972682:G:A 2532_2060_687_R->H 589 oneKG Variants: 589 chr5:40955599:C:T 2532_1204_402_R->* 0.000199681 589 chr5:40931225:G:T 2532_122_41_G->V 0.000199681 589 chr5:40931237:C:T 2532_134_45_T->I 0.00119808 589 chr5:40934431:G:A 2532_143_48_R->H 0.000199681 589 chr5:40934446:C:T 2532_158_53_A->V 0.000199681 589 chr5:40934479:T:C 2532_191_64_V->A 0.000399361 589 chr5:40934517:A:G 2532_229_77_R->G 0.000199681 589 chr5:40934521:G:A 2532_233_78_G->E 0.0 589 chr5:40934560:G:A 2532_272_91_C->Y 0.000199681 589 chr5:40936448:A:G 2532_289_97_I->V 0.000199681 589 chr5:40936541:T:C 2532_382_128_C->R 0.0261581 589 chr5:40937739:G:T 2532_514_172_D->Y 0.000399361 589 chr5:40945329:A:T 2532_597_199_E->D 0.000199681 589 chr5:40945376:A:G 2532_644_215_H->R 0.000199681 589 chr5:40945397:G:A 2532_665_222_R->H 0.0247604 589 chr5:40945465:G:A 2532_733_245_G->R 0.00119808 589 chr5:40947767:G:C 2532_802_268_E->Q 0.000199681 589 chr5:40947809:C:T 2532_844_282_H->Y 0.000399361 589 chr5:40947900:A:G 2532_935_312_E->G 0.000199681 589 chr5:40947908:G:A 2532_943_315_V->I 0.000199681 589 chr5:40950020:G:A 2532_997_333_E->K 0.000998403 589 chr5:40950095:A:G 2532_1072_358_N->D 0.000399361 589 chr5:40955489:G:A 2532_1094_365_G->E 0.000199681 589 chr5:40955525:T:C 2532_1130_377_I->T 0.000199681 589 chr5:40955537:G:T 2532_1142_381_G->V 0.000399361 589 chr5:40955561:G:C 2532_1166_389_S->T 0.48123 589 chr5:40955653:A:C 2532_1258_420_K->Q 0.00379393 589 chr5:40958232:A:G 2532_1358_453_D->G 0.000199681 589 chr5:40958246:C:T 2532_1372_458_R->W 0.000199681 589 chr5:40958281:G:C 2532_1407_469_E->D 0.000199681 589 chr5:40958289:A:G 2532_1415_472_H->R 0.000199681 589 chr5:40959590:G:A 2532_1529_510_S->N 0.000199681 589 chr5:40959622:C:A 2532_1561_521_R->S 0.000998403 589 chr5:40959623:G:A 2532_1562_521_R->H 0.000399361 589 chr5:40959634:A:C 2532_1573_525_N->H 0.000199681 589 chr5:40959652:G:T 2532_1591_531_G->C 0.000199681 589 chr5:40959673:G:A 2532_1612_538_E->K 0.000199681 589 chr5:40962201:A:G 2532_1676_559_H->R 0.00199681 589 chr5:40962236:T:C 2532_1711_571_C->R 0.000199681 589 chr5:40964852:A:C 2532_1759_587_T->P 0.192692 589 chr5:40964885:A:T 2532_1792_598_T->S 0.0660942 589 chr5:40964892:A:G 2532_1799_600_N->S 0.000199681 589 chr5:40964945:C:T 2532_1852_618_R->W 0.000399361 589 chr5:40964958:G:A 2532_1865_622_G->E 0.000199681 589 chr5:40972517:T:C 2532_1895_632_V->A 0.000399361 589 chr5:40972534:G:A 2532_1912_638_D->N 0.000599042 589 chr5:40972591:G:A 2532_1969_657_V->I 0.000199681 589 chr5:40972607:G:A 2532_1985_662_G->D 0.000399361 589 chr5:40972630:G:A 2532_2008_670_A->T 0.000599042 589 chr5:40972664:C:G 2532_2042_681_P->R 0.000199681 589 chr5:40972681:C:G 2532_2059_687_R->G 0.000399361 589 chr5:40972682:G:A 2532_2060_687_R->H 0.00179712 589 chr5:40972695:A:T 2532_2073_691_K->N 0.000199681 589 chr5:40976888:G:A 2532_2111_704_R->H 0.000199681 589 chr5:40979870:A:G 2532_2209_737_I->V 0.000199681 589 chr5:40979876:C:T 2532_2215_739_P->S 0.000199681 589 chr5:40979910:G:C 2532_2249_750_C->S 0.000199681 589 chr5:40979985:C:T 2532_2324_775_A->V 0.000199681 589 chr5:40980008:G:A 2532_2347_783_D->N 0.000199681 589 chr5:40981527:C:T 2532_2384_795_S->L 0.000399361 589 chr5:40981560:T:C 2532_2417_806_V->A 0.0 589 chr5:40981640:A:G 2532_2497_833_T->A 0.00139776 589 na12878 Variants: 589 chr5:40955561:G:C 2532_1166_389_S->T 589 snyder Variants: 589 chr5:40955561:G:C 2532_1166_389_S->T 590 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000039537_ENST00000337836 gene_Name: CO6_HUMAN 590 list of pdbs: 590 3T5O pdb_description: 01-Feb-12 X-ray 2.870 Crystal structure of human complement component c6 590 4E0S pdb_description: 18-Apr-12 X-ray 4.210 Crystal structure of c5b-6 590 4A5W pdb_description: 14-Mar-12 X-ray 3.500 Crystal structure of c5b6 590 Zimmer Variants: 590 chr5:41199959:G:T 2805_356_119_A->E;GENE=C6;CDSS=2 590 HGMD Variants: 590 chr5:41160386:A:T 2805_1542_514_Y->* 590 chr5:41201688:G:C 2805_272_91_S->* 590 chr5:41149367:A:G 2805_2599_867_C->R 590 oneKG Variants: 590 chr5:41159224:G:A 2805_1816_606_R->* 0.000199681 590 chr5:41159254:G:A 2805_1786_596_R->* 0.000199681 590 chr5:41160337:G:A 2805_1591_531_R->* 0.000199681 590 chr5:41186244:A:T 2805_654_218_C->* 0.000399361 590 chr5:41142932:C:T 2805_2800_934_A->T 0.00599042 590 chr5:41143030:C:T 2805_2702_901_G->E 0.000199681 590 chr5:41143034:T:A 2805_2698_900_M->L 0.000199681 590 chr5:41149361:C:T 2805_2605_869_D->N 0.000199681 590 chr5:41149445:G:A 2805_2521_841_R->C 0.000199681 590 chr5:41149448:C:T 2805_2518_840_G->S 0.00259585 590 chr5:41149459:G:A 2805_2507_836_S->F 0.000199681 590 chr5:41149531:G:A 2805_2435_812_T->I 0.0061901 590 chr5:41149562:C:G 2805_2404_802_V->L 0.000199681 590 chr5:41153914:T:C 2805_2288_763_K->R 0.00698882 590 chr5:41154017:C:T 2805_2185_729_E->K 0.000199681 590 chr5:41155088:T:C 2805_2087_696_D->G 0.00339457 590 chr5:41155089:C:T 2805_2086_696_D->N 0.00399361 590 chr5:41155176:C:G 2805_1999_667_D->H 0.000399361 590 chr5:41158838:G:C 2805_1906_636_P->A 0.00119808 590 chr5:41158841:G:T 2805_1903_635_L->I 0.000199681 590 chr5:41158844:C:T 2805_1900_634_D->N 0.000399361 590 chr5:41159192:C:T 2805_1848_616_M->I 0.00559105 590 chr5:41159273:G:C 2805_1767_589_C->W 0.000199681 590 chr5:41159339:C:G 2805_1701_567_Q->H 0.00559105 590 chr5:41160309:A:C 2805_1619_540_L->R 0.000199681 590 chr5:41160310:G:C 2805_1618_540_L->V 0.000399361 590 chr5:41160344:A:T 2805_1584_528_N->K 0.000199681 590 chr5:41160373:C:T 2805_1555_519_D->N 0.0081869 590 chr5:41160451:A:T 2805_1477_493_L->M 0.000199681 590 chr5:41161866:C:G 2805_1387_463_G->R 0.00159744 590 chr5:41161875:C:G 2805_1378_460_G->R 0.000199681 590 chr5:41161898:C:T 2805_1355_452_G->E 0.00219649 590 chr5:41161919:C:T 2805_1334_445_R->Q 0.000199681 590 chr5:41161935:A:C 2805_1318_440_S->A 0.000399361 590 chr5:41161953:T:C 2805_1300_434_I->V 0.00419329 590 chr5:41172396:C:T 2805_1222_408_V->I 0.000199681 590 chr5:41172399:G:A 2805_1219_407_R->C 0.000199681 590 chr5:41172429:T:C 2805_1189_397_K->E 0.0123802 590 chr5:41172449:C:T 2805_1169_390_G->D 0.000199681 590 chr5:41176654:T:C 2805_1091_364_H->R 0.000399361 590 chr5:41176670:C:T 2805_1075_359_D->N 0.000399361 590 chr5:41176678:C:A 2805_1067_356_R->L 0.000199681 590 chr5:41176706:G:C 2805_1039_347_L->V 0.000199681 590 chr5:41176765:G:A 2805_980_327_T->M 0.000599042 590 chr5:41176790:C:T 2805_955_319_V->M 0.000399361 590 chr5:41181481:T:C 2805_907_303_I->V 0.000399361 590 chr5:41181491:G:T 2805_897_299_F->L 0.033147 590 chr5:41181501:T:C 2805_887_296_N->S 0.000199681 590 chr5:41181540:A:C 2805_848_283_I->S 0.00379393 590 chr5:41181552:A:G 2805_836_279_F->S 0.000199681 590 chr5:41181565:C:A,G 2805_823_275_G->W,2 0.00159744 590 chr5:41181565:C:A,G 2805_823_275_G->R 0.00159744 590 chr5:41181567:T:C 2805_821_274_Q->R 0.000599042 590 chr5:41181583:C:T 2805_805_269_G->S 0.000199681 590 chr5:41181633:G:A 2805_755_252_T->I 0.00159744 590 chr5:41186179:C:T 2805_719_240_G->D 0.000399361 590 chr5:41186186:T:G 2805_712_238_N->H 0.000998403 590 chr5:41186221:G:A 2805_677_226_T->I 0.00698882 590 chr5:41186248:A:G 2805_650_217_I->T 0.000199681 590 chr5:41195936:C:T 2805_545_182_R->Q 0.000199681 590 chr5:41195937:G:A 2805_544_182_R->W 0.000399361 590 chr5:41195939:G:A 2805_542_181_T->I 0.00179712 590 chr5:41195945:A:G 2805_536_179_V->A 0.000199681 590 chr5:41196029:C:A 2805_452_151_C->F 0.000199681 590 chr5:41199903:C:T 2805_412_138_A->T 0.000199681 590 chr5:41199911:A:G 2805_404_135_I->T 0.000199681 590 chr5:41199927:A:G 2805_388_130_S->P 0.000199681 590 chr5:41199959:G:T 2805_356_119_A->E 0.446086 590 chr5:41199992:C:T 2805_323_108_R->H 0.000199681 590 chr5:41199993:G:T 2805_322_108_R->S 0.000199681 590 chr5:41201774:T:G 2805_186_62_E->D 0.000399361 590 chr5:41203193:T:A 2805_140_47_H->L 0.000199681 590 chr5:41203268:C:T 2805_65_22_C->Y 0.000199681 590 chr5:41203322:C:A 2805_11_4_R->L 0.00519169 590 chr5:41203323:G:A 2805_10_4_R->C 0.00139776 590 na12878 Variants: 590 chr5:41199959:G:T 2805_356_119_A->E 590 snyder Variants: 590 chr5:41199959:G:T 2805_356_119_A->E 591 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000039537_ENST00000263413 gene_Name: CO6_HUMAN 591 list of pdbs: 591 3T5O pdb_description: 01-Feb-12 X-ray 2.870 Crystal structure of human complement component c6 591 4E0S pdb_description: 18-Apr-12 X-ray 4.210 Crystal structure of c5b-6 591 4A5W pdb_description: 14-Mar-12 X-ray 3.500 Crystal structure of c5b6 591 Zimmer Variants: 591 chr5:41199959:G:T 2805_356_119_A->E 591 HGMD Variants: 591 chr5:41160386:A:T 2805_1542_514_Y->* 591 chr5:41201688:G:C 2805_272_91_S->* 591 chr5:41149367:A:G 2805_2599_867_C->R 591 oneKG Variants: 591 chr5:41159224:G:A 2805_1816_606_R->* 0.000199681 591 chr5:41159254:G:A 2805_1786_596_R->* 0.000199681 591 chr5:41160337:G:A 2805_1591_531_R->* 0.000199681 591 chr5:41186244:A:T 2805_654_218_C->* 0.000399361 591 chr5:41142932:C:T 2805_2800_934_A->T 0.00599042 591 chr5:41143030:C:T 2805_2702_901_G->E 0.000199681 591 chr5:41143034:T:A 2805_2698_900_M->L 0.000199681 591 chr5:41149361:C:T 2805_2605_869_D->N 0.000199681 591 chr5:41149445:G:A 2805_2521_841_R->C 0.000199681 591 chr5:41149448:C:T 2805_2518_840_G->S 0.00259585 591 chr5:41149459:G:A 2805_2507_836_S->F 0.000199681 591 chr5:41149531:G:A 2805_2435_812_T->I 0.0061901 591 chr5:41149562:C:G 2805_2404_802_V->L 0.000199681 591 chr5:41153914:T:C 2805_2288_763_K->R 0.00698882 591 chr5:41154017:C:T 2805_2185_729_E->K 0.000199681 591 chr5:41155088:T:C 2805_2087_696_D->G 0.00339457 591 chr5:41155089:C:T 2805_2086_696_D->N 0.00399361 591 chr5:41155176:C:G 2805_1999_667_D->H 0.000399361 591 chr5:41158838:G:C 2805_1906_636_P->A 0.00119808 591 chr5:41158841:G:T 2805_1903_635_L->I 0.000199681 591 chr5:41158844:C:T 2805_1900_634_D->N 0.000399361 591 chr5:41159192:C:T 2805_1848_616_M->I 0.00559105 591 chr5:41159273:G:C 2805_1767_589_C->W 0.000199681 591 chr5:41159339:C:G 2805_1701_567_Q->H 0.00559105 591 chr5:41160309:A:C 2805_1619_540_L->R 0.000199681 591 chr5:41160310:G:C 2805_1618_540_L->V 0.000399361 591 chr5:41160344:A:T 2805_1584_528_N->K 0.000199681 591 chr5:41160373:C:T 2805_1555_519_D->N 0.0081869 591 chr5:41160451:A:T 2805_1477_493_L->M 0.000199681 591 chr5:41161866:C:G 2805_1387_463_G->R 0.00159744 591 chr5:41161875:C:G 2805_1378_460_G->R 0.000199681 591 chr5:41161898:C:T 2805_1355_452_G->E 0.00219649 591 chr5:41161919:C:T 2805_1334_445_R->Q 0.000199681 591 chr5:41161935:A:C 2805_1318_440_S->A 0.000399361 591 chr5:41161953:T:C 2805_1300_434_I->V 0.00419329 591 chr5:41172396:C:T 2805_1222_408_V->I 0.000199681 591 chr5:41172399:G:A 2805_1219_407_R->C 0.000199681 591 chr5:41172429:T:C 2805_1189_397_K->E 0.0123802 591 chr5:41172449:C:T 2805_1169_390_G->D 0.000199681 591 chr5:41176654:T:C 2805_1091_364_H->R 0.000399361 591 chr5:41176670:C:T 2805_1075_359_D->N 0.000399361 591 chr5:41176678:C:A 2805_1067_356_R->L 0.000199681 591 chr5:41176706:G:C 2805_1039_347_L->V 0.000199681 591 chr5:41176765:G:A 2805_980_327_T->M 0.000599042 591 chr5:41176790:C:T 2805_955_319_V->M 0.000399361 591 chr5:41181481:T:C 2805_907_303_I->V 0.000399361 591 chr5:41181491:G:T 2805_897_299_F->L 0.033147 591 chr5:41181501:T:C 2805_887_296_N->S 0.000199681 591 chr5:41181540:A:C 2805_848_283_I->S 0.00379393 591 chr5:41181552:A:G 2805_836_279_F->S 0.000199681 591 chr5:41181565:C:A,G 2805_823_275_G->W 0.00159744 591 chr5:41181565:C:A,G 2805_823_275_G->R 0.00159744 591 chr5:41181567:T:C 2805_821_274_Q->R 0.000599042 591 chr5:41181583:C:T 2805_805_269_G->S 0.000199681 591 chr5:41181633:G:A 2805_755_252_T->I 0.00159744 591 chr5:41186179:C:T 2805_719_240_G->D 0.000399361 591 chr5:41186186:T:G 2805_712_238_N->H 0.000998403 591 chr5:41186221:G:A 2805_677_226_T->I 0.00698882 591 chr5:41186248:A:G 2805_650_217_I->T 0.000199681 591 chr5:41195936:C:T 2805_545_182_R->Q 0.000199681 591 chr5:41195937:G:A 2805_544_182_R->W 0.000399361 591 chr5:41195939:G:A 2805_542_181_T->I 0.00179712 591 chr5:41195945:A:G 2805_536_179_V->A 0.000199681 591 chr5:41196029:C:A 2805_452_151_C->F 0.000199681 591 chr5:41199903:C:T 2805_412_138_A->T 0.000199681 591 chr5:41199911:A:G 2805_404_135_I->T 0.000199681 591 chr5:41199927:A:G 2805_388_130_S->P 0.000199681 591 chr5:41199959:G:T 2805_356_119_A->E 0.446086 591 chr5:41199992:C:T 2805_323_108_R->H 0.000199681 591 chr5:41199993:G:T 2805_322_108_R->S 0.000199681 591 chr5:41201774:T:G 2805_186_62_E->D 0.000399361 591 chr5:41203193:T:A 2805_140_47_H->L 0.000199681 591 chr5:41203268:C:T 2805_65_22_C->Y 0.000199681 591 chr5:41203322:C:A 2805_11_4_R->L 0.00519169 591 chr5:41203323:G:A 2805_10_4_R->C 0.00139776 591 na12878 Variants: 591 chr5:41199959:G:T 2805_356_119_A->E 591 snyder Variants: 591 chr5:41199959:G:T 2805_356_119_A->E 592 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164308_ENST00000437043 gene_Name: ERAP2_HUMAN 592 list of pdbs: 592 4E36 pdb_description: 29-Aug-12 X-ray 3.220 Crystal structure of the human endoplasmic reticulum aminope variant n392k 592 3SE6 pdb_description: 21-Dec-11 X-ray 3.080 Crystal structure of the human endoplasmic reticulum aminope 592 Zimmer Variants: 592 chr5:96249097:C:T 2883_2593_865_R->C;GNEG=Yes;GENE=ERAP2;CDSS=2 592 HGMD Variants: 592 chr5:96231000:G:T 2883_1176_392_K->N 592 chr5:96239258:T:A 2883_2006_669_L->Q 592 oneKG Variants: 592 chr5:96253199:G:T 2883_2773_925_G->* 0.000199681 592 chr5:96215397:A:C 2883_8_3_H->P 0.000199681 592 chr5:96215433:T:C 2883_44_15_M->T 0.000199681 592 chr5:96215477:C:T 2883_88_30_P->S 0.000199681 592 chr5:96215503:C:G 2883_114_38_F->L 0.000399361 592 chr5:96215571:G:A 2883_182_61_R->Q 0.000199681 592 chr5:96215574:T:A 2883_185_62_F->Y 0.000199681 592 chr5:96215619:A:T 2883_230_77_H->L 0.000199681 592 chr5:96215643:A:G 2883_254_85_N->S 0.000399361 592 chr5:96215679:T:C 2883_290_97_I->T 0.000199681 592 chr5:96215718:T:C 2883_329_110_L->S 0.000199681 592 chr5:96215729:G:A,T 2883_340_114_D->N 0.000599042 592 chr5:96215729:G:A,T 2883_340_114_D->Y 0.000599042 592 chr5:96215747:G:C 2883_358_120_A->P 0.000998403 592 chr5:96215799:T:G 2883_410_137_L->R 0.000199681 592 chr5:96215823:A:G 2883_434_145_H->R 0.000199681 592 chr5:96215830:A:T 2883_441_147_Q->H 0.000199681 592 chr5:96215934:G:A 2883_545_182_S->N 0.000199681 592 chr5:96219534:G:A 2883_614_205_R->H 0.000399361 592 chr5:96219561:C:T 2883_641_214_P->L 0.0307508 592 chr5:96219594:G:A 2883_674_225_R->Q 0.000199681 592 chr5:96222360:T:C 2883_716_239_V->A 0.00658946 592 chr5:96224904:T:G 2883_865_289_S->A 0.028754 592 chr5:96224932:A:C 2883_893_298_Y->S 0.000199681 592 chr5:96228029:C:T 2883_997_333_P->S 0.000199681 592 chr5:96228072:C:T 2883_1040_347_T->M 0.0111821 592 chr5:96228086:G:T 2883_1054_352_D->Y 0.000199681 592 chr5:96231000:G:T 2883_1176_392_K->N 0.447284 592 chr5:96231019:A:T 2883_1195_399_M->L 0.000199681 592 chr5:96231043:A:G 2883_1219_407_T->A 0.000599042 592 chr5:96231056:T:G 2883_1232_411_L->R 0.00259585 592 chr5:96232118:A:C 2883_1281_427_K->N 0.000599042 592 chr5:96237302:C:A 2883_1665_555_D->E 0.000199681 592 chr5:96237303:G:A 2883_1666_556_G->R 0.000199681 592 chr5:96237307:G:A 2883_1670_557_C->Y 0.000199681 592 chr5:96237330:C:T 2883_1693_565_R->C 0.000199681 592 chr5:96237991:A:T 2883_1762_588_I->F 0.000399361 592 chr5:96239128:G:A 2883_1876_626_D->N 0.000199681 592 chr5:96239149:G:A 2883_1897_633_V->I 0.000199681 592 chr5:96239153:A:G 2883_1901_634_H->R 0.000998403 592 chr5:96239234:G:T 2883_1982_661_G->V 0.00638978 592 chr5:96239247:T:G 2883_1995_665_D->E 0.000399361 592 chr5:96239258:T:A 2883_2006_669_L->Q 0.0227636 592 chr5:96244718:A:G 2883_2066_689_H->R 0.000399361 592 chr5:96244778:T:C 2883_2126_709_M->T 0.000199681 592 chr5:96244802:A:G 2883_2150_717_D->G 0.000199681 592 chr5:96245284:C:T 2883_2170_724_R->C 0.000199681 592 chr5:96245365:C:T 2883_2251_751_R->C 0.00259585 592 chr5:96248440:T:G 2883_2454_818_S->R 0.000199681 592 chr5:96248462:T:C 2883_2476_826_Y->H 0.000199681 592 chr5:96248475:C:T 2883_2489_830_T->M 0.000199681 592 chr5:96248496:T:C 2883_2510_837_L->S 0.00259585 592 chr5:96249044:G:A 2883_2540_847_G->E 0.000199681 592 chr5:96249097:C:T 2883_2593_865_R->C 0.000798722 592 chr5:96251427:T:G 2883_2693_898_I->S 0.000199681 592 chr5:96251460:A:T 2883_2726_909_D->V 0.000399361 592 chr5:96253227:T:C 2883_2801_934_V->A 0.000399361 592 chr5:96253236:C:T 2883_2810_937_T->M 0.000199681 592 chr5:96253281:T:C 2883_2855_952_L->P 0.00299521 592 na12878 Variants: 592 chr5:96231000:G:T 2883_1176_392_K->N 592 snyder Variants: 592 chr5:96231000:G:T 2883_1176_392_K->N 593 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164308_ENST00000379904 gene_Name: ERAP2_HUMAN 593 list of pdbs: 593 4E36 pdb_description: 29-Aug-12 X-ray 3.220 Crystal structure of the human endoplasmic reticulum aminope variant n392k 593 3SE6 pdb_description: 21-Dec-11 X-ray 3.080 Crystal structure of the human endoplasmic reticulum aminope 593 Zimmer Variants: 593 chr5:96249097:C:T 2748_2458_820_R->C 593 HGMD Variants: 593 chr5:96231000:G:T 2748_1041_347_K->N 593 chr5:96239258:T:A 2748_1871_624_L->Q 593 oneKG Variants: 593 chr5:96253199:G:T 2748_2638_880_G->* 0.000199681 593 chr5:96215397:A:C 2748_8_3_H->P 0.000199681 593 chr5:96215433:T:C 2748_44_15_M->T 0.000199681 593 chr5:96215477:C:T 2748_88_30_P->S 0.000199681 593 chr5:96215503:C:G 2748_114_38_F->L 0.000399361 593 chr5:96215571:G:A 2748_182_61_R->Q 0.000199681 593 chr5:96215574:T:A 2748_185_62_F->Y 0.000199681 593 chr5:96215619:A:T 2748_230_77_H->L 0.000199681 593 chr5:96215643:A:G 2748_254_85_N->S 0.000399361 593 chr5:96215679:T:C 2748_290_97_I->T 0.000199681 593 chr5:96215718:T:C 2748_329_110_L->S 0.000199681 593 chr5:96215729:G:A,T 2748_340_114_D->N 0.000599042 593 chr5:96215729:G:A,T 2748_340_114_D->Y 0.000599042 593 chr5:96215747:G:C 2748_358_120_A->P 0.000998403 593 chr5:96215799:T:G 2748_410_137_L->R 0.000199681 593 chr5:96215823:A:G 2748_434_145_H->R 0.000199681 593 chr5:96215830:A:T 2748_441_147_Q->H 0.000199681 593 chr5:96215934:G:A 2748_545_182_S->N 0.000199681 593 chr5:96219534:G:A 2748_614_205_R->H 0.000399361 593 chr5:96219561:C:T 2748_641_214_P->L 0.0307508 593 chr5:96219594:G:A 2748_674_225_R->Q 0.000199681 593 chr5:96224904:T:G 2748_730_244_S->A 0.028754 593 chr5:96224932:A:C 2748_758_253_Y->S 0.000199681 593 chr5:96228029:C:T 2748_862_288_P->S 0.000199681 593 chr5:96228072:C:T 2748_905_302_T->M 0.0111821 593 chr5:96228086:G:T 2748_919_307_D->Y 0.000199681 593 chr5:96231000:G:T 2748_1041_347_K->N 0.447284 593 chr5:96231019:A:T 2748_1060_354_M->L 0.000199681 593 chr5:96231043:A:G 2748_1084_362_T->A 0.000599042 593 chr5:96231056:T:G 2748_1097_366_L->R 0.00259585 593 chr5:96232118:A:C 2748_1146_382_K->N 0.000599042 593 chr5:96237302:C:A 2748_1530_510_D->E 0.000199681 593 chr5:96237303:G:A 2748_1531_511_G->R 0.000199681 593 chr5:96237307:G:A 2748_1535_512_C->Y 0.000199681 593 chr5:96237330:C:T 2748_1558_520_R->C 0.000199681 593 chr5:96237991:A:T 2748_1627_543_I->F 0.000399361 593 chr5:96239128:G:A 2748_1741_581_D->N 0.000199681 593 chr5:96239149:G:A 2748_1762_588_V->I 0.000199681 593 chr5:96239153:A:G 2748_1766_589_H->R 0.000998403 593 chr5:96239234:G:T 2748_1847_616_G->V 0.00638978 593 chr5:96239247:T:G 2748_1860_620_D->E 0.000399361 593 chr5:96239258:T:A 2748_1871_624_L->Q 0.0227636 593 chr5:96244718:A:G 2748_1931_644_H->R 0.000399361 593 chr5:96244778:T:C 2748_1991_664_M->T 0.000199681 593 chr5:96244802:A:G 2748_2015_672_D->G 0.000199681 593 chr5:96245284:C:T 2748_2035_679_R->C 0.000199681 593 chr5:96245365:C:T 2748_2116_706_R->C 0.00259585 593 chr5:96248440:T:G 2748_2319_773_S->R 0.000199681 593 chr5:96248462:T:C 2748_2341_781_Y->H 0.000199681 593 chr5:96248475:C:T 2748_2354_785_T->M 0.000199681 593 chr5:96248496:T:C 2748_2375_792_L->S 0.00259585 593 chr5:96249044:G:A 2748_2405_802_G->E 0.000199681 593 chr5:96249097:C:T 2748_2458_820_R->C 0.000798722 593 chr5:96251427:T:G 2748_2558_853_I->S 0.000199681 593 chr5:96251460:A:T 2748_2591_864_D->V 0.000399361 593 chr5:96253227:T:C 2748_2666_889_V->A 0.000399361 593 chr5:96253236:C:T 2748_2675_892_T->M 0.000199681 593 chr5:96253281:T:C 2748_2720_907_L->P 0.00299521 593 na12878 Variants: 593 chr5:96231000:G:T 2748_1041_347_K->N 593 snyder Variants: 593 chr5:96231000:G:T 2748_1041_347_K->N 594 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095951_ENST00000379388 gene_Name: ZEP1_HUMAN 594 list of pdbs: 594 4ZNF pdb_description: 15-Jan-92 NMR 41 High-resolution three-dimensional structure of a single zinc finger from a human enhancer binding protein in solution 594 3ZNF pdb_description: 15-Jan-92 NMR 1 High-resolution three-dimensional structure of a single zinc finger from a human enhancer binding protein in solution 594 1BBO pdb_description: 31-Oct-93 NMR 60 High-resolution solution structure of the double cys2 His2 zinc finger from the human enhancer binding protein mbp-1 594 Zimmer Variants: 594 chr6:12123249:A:G 8157_3221_1074_N->S;HUB=REG;GENE=HIVEP1;CDSS=2;DBRECUR=HIVEP1 594 chr6:12125772:A:G 8157_5744_1915_Q->R;HUB=REG;GENE=HIVEP1;CDSS=2;DBRECUR=HIVEP1 594 HGMD Variants: 594 chr6:12120804:G:T 8157_776_259_C->F 594 oneKG Variants: 594 chr6:12089452:G:C 8157_76_26_A->P 0.000199681 594 chr6:12120176:C:T 8157_148_50_R->C 0.000199681 594 chr6:12120290:C:T 8157_262_88_H->Y 0.00179712 594 chr6:12120326:A:C 8157_298_100_I->L 0.000199681 594 chr6:12120335:A:G 8157_307_103_K->E 0.000199681 594 chr6:12120514:A:T 8157_486_162_Q->H 0.000199681 594 chr6:12120518:G:C 8157_490_164_D->H 0.000199681 594 chr6:12120519:A:G 8157_491_164_D->G 0.000199681 594 chr6:12120524:A:G 8157_496_166_S->G 0.000199681 594 chr6:12120536:A:G 8157_508_170_S->G 0.0123802 594 chr6:12120588:C:T 8157_560_187_T->M 0.207468 594 chr6:12120591:C:T 8157_563_188_S->F 0.000399361 594 chr6:12120635:A:G 8157_607_203_M->V 0.000798722 594 chr6:12120714:C:T 8157_686_229_T->I 0.000199681 594 chr6:12120826:G:A 8157_798_266_M->I 0.000199681 594 chr6:12120844:T:A 8157_816_272_N->K 0.000199681 594 chr6:12121005:A:G 8157_977_326_Y->C 0.000199681 594 chr6:12121047:C:T 8157_1019_340_S->F 0.000199681 594 chr6:12121055:T:A 8157_1027_343_S->T 0.000199681 594 chr6:12121085:G:T 8157_1057_353_D->Y 0.000199681 594 chr6:12121113:C:T 8157_1085_362_P->L 0.0125799 594 chr6:12121161:A:G 8157_1133_378_H->R 0.000399361 594 chr6:12121464:C:G 8157_1436_479_S->C 0.000199681 594 chr6:12121574:G:A 8157_1546_516_V->M 0.000199681 594 chr6:12121602:C:T 8157_1574_525_A->V 0.000199681 594 chr6:12121638:G:T 8157_1610_537_S->I 0.000199681 594 chr6:12121653:T:C 8157_1625_542_I->T 0.000199681 594 chr6:12121674:A:G 8157_1646_549_D->G 0.000399361 594 chr6:12121697:G:A 8157_1669_557_V->M 0.000199681 594 chr6:12121763:A:G 8157_1735_579_K->E 0.000798722 594 chr6:12121815:T:C 8157_1787_596_L->P 0.000199681 594 chr6:12121848:A:G 8157_1820_607_N->S 0.000199681 594 chr6:12121899:A:G 8157_1871_624_Q->R 0.000599042 594 chr6:12121938:C:G 8157_1910_637_S->C 0.000199681 594 chr6:12121944:T:C 8157_1916_639_V->A 0.000199681 594 chr6:12122061:G:A 8157_2033_678_R->H 0.000199681 594 chr6:12122091:C:A 8157_2063_688_P->Q 0.000199681 594 chr6:12122102:T:G 8157_2074_692_F->V 0.0115815 594 chr6:12122150:G:A 8157_2122_708_G->R 0.000199681 594 chr6:12122157:C:T 8157_2129_710_S->F 0.00139776 594 chr6:12122165:C:T 8157_2137_713_L->F 0.000199681 594 chr6:12122174:A:G 8157_2146_716_T->A 0.208267 594 chr6:12122209:G:C 8157_2181_727_K->N 0.000199681 594 chr6:12122267:C:T 8157_2239_747_R->W 0.000199681 594 chr6:12122468:T:C 8157_2440_814_F->L 0.000199681 594 chr6:12122510:G:A 8157_2482_828_V->I 0.0103834 594 chr6:12122514:C:T 8157_2486_829_P->L 0.000399361 594 chr6:12122590:A:G 8157_2562_854_I->M 0.000199681 594 chr6:12122645:A:G 8157_2617_873_T->A 0.0 594 chr6:12122646:C:T 8157_2618_873_T->I 0.000199681 594 chr6:12122648:T:C 8157_2620_874_F->L 0.000199681 594 chr6:12122659:T:A 8157_2631_877_D->E 0.000199681 594 chr6:12122666:G:T 8157_2638_880_V->L 0.000199681 594 chr6:12122670:C:T 8157_2642_881_S->L 0.000199681 594 chr6:12122700:G:A 8157_2672_891_G->E 0.000599042 594 chr6:12122774:G:A 8157_2746_916_G->R 0.000199681 594 chr6:12122825:A:G 8157_2797_933_M->V 0.000199681 594 chr6:12122843:G:T 8157_2815_939_A->S 0.000199681 594 chr6:12122865:T:C 8157_2837_946_I->T 0.000199681 594 chr6:12123074:G:A 8157_3046_1016_A->T 0.000798722 594 chr6:12123078:G:T 8157_3050_1017_G->V 0.000199681 594 chr6:12123130:G:A 8157_3102_1034_M->I 0.000199681 594 chr6:12123138:T:G 8157_3110_1037_V->G 0.000199681 594 chr6:12123186:A:C 8157_3158_1053_K->T 0.000199681 594 chr6:12123192:C:T 8157_3164_1055_S->F 0.0101837 594 chr6:12123216:C:T 8157_3188_1063_A->V 0.000399361 594 chr6:12123249:A:G 8157_3221_1074_N->S 0.147165 594 chr6:12123266:G:A 8157_3238_1080_D->N 0.000199681 594 chr6:12123300:C:A 8157_3272_1091_S->Y 0.000199681 594 chr6:12123494:A:G 8157_3466_1156_R->G 0.000199681 594 chr6:12123531:C:T 8157_3503_1168_T->M 0.000199681 594 chr6:12123534:G:A 8157_3506_1169_G->E 0.000199681 594 chr6:12123538:G:T 8157_3510_1170_K->N 0.0499201 594 chr6:12123554:G:T 8157_3526_1176_V->L 0.000199681 594 chr6:12123597:G:A 8157_3569_1190_G->E 0.000399361 594 chr6:12123608:C:T 8157_3580_1194_H->Y 0.000199681 594 chr6:12123617:G:A 8157_3589_1197_A->T 0.000199681 594 chr6:12123758:G:C 8157_3730_1244_D->H 0.000199681 594 chr6:12123782:C:T 8157_3754_1252_H->Y 0.000199681 594 chr6:12123783:A:G 8157_3755_1252_H->R 0.000199681 594 chr6:12123785:G:A 8157_3757_1253_D->N 0.000199681 594 chr6:12123935:T:C 8157_3907_1303_S->P 0.000199681 594 chr6:12124160:A:G 8157_4132_1378_M->V 0.000199681 594 chr6:12124176:T:C 8157_4148_1383_L->P 0.000199681 594 chr6:12124215:C:T 8157_4187_1396_P->L 0.00998403 594 chr6:12124240:G:T 8157_4212_1404_L->F 0.00199681 594 chr6:12124245:C:T 8157_4217_1406_P->L 0.000199681 594 chr6:12124293:T:C 8157_4265_1422_L->S 0.000199681 594 chr6:12124338:T:C 8157_4310_1437_I->T 0.000199681 594 chr6:12124512:C:T 8157_4484_1495_T->I 0.000199681 594 chr6:12124535:G:A 8157_4507_1503_V->I 0.0101837 594 chr6:12124584:A:G 8157_4556_1519_H->R 0.000199681 594 chr6:12124587:C:G 8157_4559_1520_A->G 0.248003 594 chr6:12124590:C:T 8157_4562_1521_P->L 0.000199681 594 chr6:12124632:C:T 8157_4604_1535_T->M 0.000199681 594 chr6:12124679:A:G 8157_4651_1551_K->E 0.0101837 594 chr6:12124695:T:C 8157_4667_1556_F->S 0.000199681 594 chr6:12124845:T:C 8157_4817_1606_I->T 0.000199681 594 chr6:12124855:G:A 8157_4827_1609_M->I 0.217053 594 chr6:12124914:A:G 8157_4886_1629_K->R 0.000199681 594 chr6:12124944:G:A 8157_4916_1639_R->H 0.000199681 594 chr6:12125126:C:T 8157_5098_1700_P->S 0.000599042 594 chr6:12125172:A:C 8157_5144_1715_Q->P 0.000399361 594 chr6:12125178:C:A 8157_5150_1717_S->Y 0.000199681 594 chr6:12125183:C:G 8157_5155_1719_L->V 0.000199681 594 chr6:12125259:G:A 8157_5231_1744_S->N 0.000199681 594 chr6:12125386:A:T 8157_5358_1786_R->S 0.000399361 594 chr6:12125507:G:A 8157_5479_1827_A->T 0.000599042 594 chr6:12125522:A:G 8157_5494_1832_N->D 0.000199681 594 chr6:12125541:A:G 8157_5513_1838_N->S 0.00998403 594 chr6:12125565:T:G 8157_5537_1846_F->C 0.000399361 594 chr6:12125570:G:A 8157_5542_1848_V->I 0.000199681 594 chr6:12125583:T:C 8157_5555_1852_I->T 0.000199681 594 chr6:12125661:C:T 8157_5633_1878_S->L 0.00738818 594 chr6:12125681:C:T 8157_5653_1885_P->S 0.000199681 594 chr6:12125759:G:A 8157_5731_1911_E->K 0.000199681 594 chr6:12125772:A:G 8157_5744_1915_Q->R 0.170128 594 chr6:12125865:A:C 8157_5837_1946_Y->S 0.000399361 594 chr6:12125934:C:G 8157_5906_1969_T->R 0.000199681 594 chr6:12125942:G:A 8157_5914_1972_A->T 0.000599042 594 chr6:12130023:T:C 8157_6107_2036_V->A 0.000199681 594 chr6:12130063:G:C 8157_6147_2049_E->D 0.000199681 594 chr6:12136072:T:C 8157_6434_2145_V->A 0.000399361 594 chr6:12161701:T:C 8157_6517_2173_S->P 0.000399361 594 chr6:12161883:G:C 8157_6699_2233_R->S 0.000199681 594 chr6:12161920:A:G 8157_6736_2246_M->V 0.000199681 594 chr6:12162008:G:C 8157_6824_2275_G->A 0.000998403 594 chr6:12162023:G:A 8157_6839_2280_R->H 0.000199681 594 chr6:12162068:C:T 8157_6884_2295_S->F 0.00519169 594 chr6:12162139:G:A 8157_6955_2319_G->R 0.000399361 594 chr6:12163528:G:C 8157_6991_2331_V->L 0.00519169 594 chr6:12163532:G:C 8157_6995_2332_R->T 0.000199681 594 chr6:12163601:A:G 8157_7064_2355_H->R 0.000199681 594 chr6:12163628:A:G 8157_7091_2364_Q->R 0.000199681 594 chr6:12163657:C:T 8157_7120_2374_P->S 0.0103834 594 chr6:12163660:T:C 8157_7123_2375_S->P 0.000399361 594 chr6:12163739:T:C 8157_7202_2401_V->A 0.00159744 594 chr6:12163781:C:T 8157_7244_2415_T->M 0.000199681 594 chr6:12163798:G:C 8157_7261_2421_A->P 0.000399361 594 chr6:12163802:G:A 8157_7265_2422_G->E 0.000199681 594 chr6:12163828:G:A 8157_7291_2431_V->I 0.000199681 594 chr6:12163831:A:G 8157_7294_2432_S->G 0.00139776 594 chr6:12163868:C:T 8157_7331_2444_T->M 0.00219649 594 chr6:12164224:G:A 8157_7687_2563_V->I 0.00199681 594 chr6:12164231:C:T 8157_7694_2565_A->V 0.000199681 594 chr6:12164239:G:C 8157_7702_2568_A->P 0.000199681 594 chr6:12164258:C:T 8157_7721_2574_S->F 0.000199681 594 chr6:12164275:G:A 8157_7738_2580_E->K 0.000199681 594 chr6:12164296:T:C 8157_7759_2587_S->P 0.000199681 594 chr6:12164308:G:A 8157_7771_2591_A->T 0.000199681 594 chr6:12164456:C:T 8157_7919_2640_S->L 0.00758786 594 chr6:12164525:C:T 8157_7988_2663_P->L 0.000399361 594 chr6:12164537:C:G 8157_8000_2667_A->G 0.000399361 594 chr6:12164612:C:G 8157_8075_2692_A->G 0.0283546 594 chr6:12164618:C:T 8157_8081_2694_P->L 0.000798722 594 chr6:12164627:A:T 8157_8090_2697_Q->L 0.000199681 594 na12878 Variants: 594 chr6:12120588:C:T 8157_560_187_T->M 594 chr6:12122174:A:G 8157_2146_716_T->A 594 chr6:12123249:A:G 8157_3221_1074_N->S 594 chr6:12124855:G:A 8157_4827_1609_M->I 594 chr6:12125772:A:G 8157_5744_1915_Q->R 594 snyder Variants: 594 chr6:12120588:C:T 8157_560_187_T->M 594 chr6:12122174:A:G 8157_2146_716_T->A 594 chr6:12124855:G:A 8157_4827_1609_M->I 595 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120265_ENST00000367378 gene_Name: 595 list of pdbs: 595 1KR5 pdb_description: 08-Feb-02 X-ray 2.100 Crystal structure of human l-isoaspartyl methyltransferase 595 1I1N pdb_description: 13-Mar-02 X-ray 1.500 Human protein l-isoaspartate o-methyltransferase with s- adenosyl homocysteine 595 Zimmer Variants: 595 chr6:150114745:G:A 858_532_178_V->I 595 HGMD Variants: 595 chr6:150114745:G:A 858_532_178_V->I 595 oneKG Variants: 595 chr6:150070876:C:T 858_13_5_R->C 0.000199681 595 chr6:150070877:G:A 858_14_5_R->H 0.00139776 595 chr6:150070885:G:A 858_22_8_G->S 0.000199681 595 chr6:150070895:G:A 858_32_11_G->D 0.00159744 595 chr6:150070931:C:T 858_68_23_A->V 0.000399361 595 chr6:150070946:C:T 858_83_28_T->M 0.000199681 595 chr6:150071002:A:C 858_139_47_K->Q 0.000199681 595 chr6:150071008:G:T 858_145_49_V->F 0.000399361 595 chr6:150071017:C:G 858_154_52_L->V 0.000199681 595 chr6:150111114:T:C 858_391_131_F->L 0.000199681 595 chr6:150111136:C:G 858_413_138_A->G 0.000199681 595 chr6:150114745:G:A 858_532_178_V->I 0.332668 595 chr6:150114761:A:G 858_548_183_K->R 0.000199681 595 chr6:150123372:T:G 858_715_239_L->V 0.000199681 595 chr6:150123446:G:T 858_789_263_M->I 0.000199681 595 na12878 Variants: 595 chr6:150114745:G:A 858_532_178_V->I 595 snyder Variants: 595 chr6:150114745:G:A 858_532_178_V->I 596 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120265_ENST00000464889 gene_Name: 596 list of pdbs: 596 1KR5 pdb_description: 08-Feb-02 X-ray 2.100 Crystal structure of human l-isoaspartyl methyltransferase 596 1I1N pdb_description: 13-Mar-02 X-ray 1.500 Human protein l-isoaspartate o-methyltransferase with s- adenosyl homocysteine 596 Zimmer Variants: 596 chr6:150114745:G:A 858_532_178_V->I 596 HGMD Variants: 596 chr6:150114745:G:A 858_532_178_V->I 596 oneKG Variants: 596 chr6:150070876:C:T 858_13_5_R->C 0.000199681 596 chr6:150070877:G:A 858_14_5_R->H 0.00139776 596 chr6:150070885:G:A 858_22_8_G->S 0.000199681 596 chr6:150070895:G:A 858_32_11_G->D 0.00159744 596 chr6:150070931:C:T 858_68_23_A->V 0.000399361 596 chr6:150070946:C:T 858_83_28_T->M 0.000199681 596 chr6:150071002:A:C 858_139_47_K->Q 0.000199681 596 chr6:150071008:G:T 858_145_49_V->F 0.000399361 596 chr6:150071017:C:G 858_154_52_L->V 0.000199681 596 chr6:150111114:T:C 858_391_131_F->L 0.000199681 596 chr6:150111136:C:G 858_413_138_A->G 0.000199681 596 chr6:150114745:G:A 858_532_178_V->I 0.332668 596 chr6:150114761:A:G 858_548_183_K->R 0.000199681 596 chr6:150123372:T:G 858_715_239_L->V 0.000199681 596 chr6:150123446:G:T 858_789_263_M->I 0.000199681 596 na12878 Variants: 596 chr6:150114745:G:A 858_532_178_V->I 596 snyder Variants: 596 chr6:150114745:G:A 858_532_178_V->I 597 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000120265_ENST00000367380 gene_Name: PIMT_HUMAN 597 list of pdbs: 597 1KR5 pdb_description: 08-Feb-02 X-ray 2.100 Crystal structure of human l-isoaspartyl methyltransferase 597 1I1N pdb_description: 13-Mar-02 X-ray 1.500 Human protein l-isoaspartate o-methyltransferase with s- adenosyl homocysteine 597 Zimmer Variants: 597 chr6:150114745:G:A 684_358_120_V->I 597 HGMD Variants: 597 chr6:150114745:G:A 684_358_120_V->I 597 oneKG Variants: 597 chr6:150111114:T:C 684_217_73_F->L 0.000199681 597 chr6:150111136:C:G 684_239_80_A->G 0.000199681 597 chr6:150114745:G:A 684_358_120_V->I 0.332668 597 chr6:150114761:A:G 684_374_125_K->R 0.000199681 597 chr6:150123372:T:G 684_541_181_L->V 0.000199681 597 chr6:150123446:G:T 684_615_205_M->I 0.000199681 597 na12878 Variants: 597 chr6:150114745:G:A 684_358_120_V->I 597 snyder Variants: 597 chr6:150114745:G:A 684_358_120_V->I 598 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112096_ENST00000538183 gene_Name: SODM_HUMAN 598 list of pdbs: 598 3C3T pdb_description: 22-Apr-08 X-ray 2.200 Role of a glutamate bridge spanning the dimeric interface of manganese superoxide dismutase 598 3C3S pdb_description: 22-Apr-08 X-ray 2.500 Role of a glutamate bridge spanning the dimeric interface of human manganese superoxide dismutase 598 2QKC pdb_description: 29-Jul-08 X-ray 2.300 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 598 2QKA pdb_description: 29-Jul-08 X-ray 2.200 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 598 2P4K pdb_description: 03-Apr-07 X-ray 1.480 Contribution to structure and catalysis of tyrosine 34 in human manganese superoxide dismutase 598 2GDS pdb_description: 28-Mar-06 X-ray 2.300 Interrupting the hydrogen bonding network at the active site of human manganese superoxide dismutase 598 2ADQ pdb_description: 04-Jul-06 X-ray 2.400 Human manganese superoxide dismutase 598 2ADP pdb_description: 04-Jul-06 X-ray 2.400 Nitrated human manganese superoxide dismutase 598 1ZUQ pdb_description: 02-May-06 X-ray 2.000 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 598 1ZTE pdb_description: 02-May-06 X-ray 1.850 Contribution to structure and catalysis of tyrosine 34 in human manganese suerpoxide dismutase 598 1ZSP pdb_description: 02-May-06 X-ray 1.900 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 598 1XIL pdb_description: 08-Mar-05 X-ray 1.530 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 598 1XDC pdb_description: 22-Mar-05 X-ray 1.850 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 598 1VAR pdb_description: 10-Jun-96 X-ray 2.500 Mitochondrial manganese superoxide dismutase variant with ile 58 replaced by thr 598 1SZX pdb_description: 27-Apr-04 X-ray 1.950 Role of hydrogen bonding in the active site of human mangane superoxide dismutase 598 1QNM pdb_description: 07-Jan-98 X-ray 2.300 Human manganese superoxide dismutase mutant q143n 598 1PM9 pdb_description: 16-Dec-03 X-ray 1.700 Crystal structure of human mnsod h30n, y166f mutant 598 1PL4 pdb_description: 16-Dec-03 X-ray 1.470 Crystal structure of human mnsod y166f mutant 598 1N0N pdb_description: 06-Nov-02 X-ray 1.820 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase 598 1N0J pdb_description: 06-Nov-02 X-ray 2.200 The structure of human mitochondrial mn3+ superoxide dismuta a novel tetrameric interface of two 4-helix bundles 598 1MSD pdb_description: 15-Jul-93 X-ray 3.200 Comparison of the crystal structures of genetically engineered human manganese superoxide dismutase and manganese superoxide dismutase from thermus thermophilus. Differences in dimer-dimer interactions. 598 1LUW pdb_description: 19-Jun-02 X-ray 2.300 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 598 1LUV pdb_description: 19-Jun-02 X-ray 1.850 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 598 1JA8 pdb_description: 06-Jun-01 X-ray 2.120 Kinetic analysis of product inhibition in human manganese su dismutase 598 1EM1 pdb_description: 24-Mar-00 X-ray 2.130 X-ray crystal structure for human manganese superoxide dismu q143a 598 1AP6 pdb_description: 28-Jan-98 X-ray 1.900 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 598 1AP5 pdb_description: 28-Jan-98 X-ray 2.200 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 598 Zimmer Variants: 598 chr6:160113872:A:G 669_47_16_V->A 598 HGMD Variants: 598 chr6:160109256:A:G 669_245_82_I->T 598 chr6:160113872:A:G 669_47_16_V->A 598 oneKG Variants: 598 chr6:160106038:T:A 669_371_124_D->V 0.000199681 598 chr6:160106042:G:A 669_367_123_R->C 0.000399361 598 chr6:160109269:C:T 669_232_78_V->I 0.000199681 598 chr6:160113872:A:G 669_47_16_V->A 0.410743 598 chr6:160113890:C:A 669_29_10_S->I 0.00139776 598 na12878 Variants: 598 chr6:160113872:A:G 669_47_16_V->A 598 snyder Variants: 598 chr6:160113872:A:G 669_47_16_V->A 599 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112096_ENST00000367055 gene_Name: SODM_HUMAN 599 list of pdbs: 599 3C3T pdb_description: 22-Apr-08 X-ray 2.200 Role of a glutamate bridge spanning the dimeric interface of manganese superoxide dismutase 599 3C3S pdb_description: 22-Apr-08 X-ray 2.500 Role of a glutamate bridge spanning the dimeric interface of human manganese superoxide dismutase 599 2QKC pdb_description: 29-Jul-08 X-ray 2.300 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 599 2QKA pdb_description: 29-Jul-08 X-ray 2.200 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 599 2P4K pdb_description: 03-Apr-07 X-ray 1.480 Contribution to structure and catalysis of tyrosine 34 in human manganese superoxide dismutase 599 2GDS pdb_description: 28-Mar-06 X-ray 2.300 Interrupting the hydrogen bonding network at the active site of human manganese superoxide dismutase 599 2ADQ pdb_description: 04-Jul-06 X-ray 2.400 Human manganese superoxide dismutase 599 2ADP pdb_description: 04-Jul-06 X-ray 2.400 Nitrated human manganese superoxide dismutase 599 1ZUQ pdb_description: 02-May-06 X-ray 2.000 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 599 1ZTE pdb_description: 02-May-06 X-ray 1.850 Contribution to structure and catalysis of tyrosine 34 in human manganese suerpoxide dismutase 599 1ZSP pdb_description: 02-May-06 X-ray 1.900 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 599 1XIL pdb_description: 08-Mar-05 X-ray 1.530 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 599 1XDC pdb_description: 22-Mar-05 X-ray 1.850 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 599 1VAR pdb_description: 10-Jun-96 X-ray 2.500 Mitochondrial manganese superoxide dismutase variant with ile 58 replaced by thr 599 1SZX pdb_description: 27-Apr-04 X-ray 1.950 Role of hydrogen bonding in the active site of human mangane superoxide dismutase 599 1QNM pdb_description: 07-Jan-98 X-ray 2.300 Human manganese superoxide dismutase mutant q143n 599 1PM9 pdb_description: 16-Dec-03 X-ray 1.700 Crystal structure of human mnsod h30n, y166f mutant 599 1PL4 pdb_description: 16-Dec-03 X-ray 1.470 Crystal structure of human mnsod y166f mutant 599 1N0N pdb_description: 06-Nov-02 X-ray 1.820 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase 599 1N0J pdb_description: 06-Nov-02 X-ray 2.200 The structure of human mitochondrial mn3+ superoxide dismuta a novel tetrameric interface of two 4-helix bundles 599 1MSD pdb_description: 15-Jul-93 X-ray 3.200 Comparison of the crystal structures of genetically engineered human manganese superoxide dismutase and manganese superoxide dismutase from thermus thermophilus. Differences in dimer-dimer interactions. 599 1LUW pdb_description: 19-Jun-02 X-ray 2.300 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 599 1LUV pdb_description: 19-Jun-02 X-ray 1.850 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 599 1JA8 pdb_description: 06-Jun-01 X-ray 2.120 Kinetic analysis of product inhibition in human manganese su dismutase 599 1EM1 pdb_description: 24-Mar-00 X-ray 2.130 X-ray crystal structure for human manganese superoxide dismu q143a 599 1AP6 pdb_description: 28-Jan-98 X-ray 1.900 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 599 1AP5 pdb_description: 28-Jan-98 X-ray 2.200 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 599 Zimmer Variants: 599 chr6:160113872:A:G 669_47_16_V->A 599 HGMD Variants: 599 chr6:160109256:A:G 669_245_82_I->T 599 chr6:160113872:A:G 669_47_16_V->A 599 oneKG Variants: 599 chr6:160106038:T:A 669_371_124_D->V 0.000199681 599 chr6:160106042:G:A 669_367_123_R->C 0.000399361 599 chr6:160109269:C:T 669_232_78_V->I 0.000199681 599 chr6:160113872:A:G 669_47_16_V->A 0.410743 599 chr6:160113890:C:A 669_29_10_S->I 0.00139776 599 na12878 Variants: 599 chr6:160113872:A:G 669_47_16_V->A 599 snyder Variants: 599 chr6:160113872:A:G 669_47_16_V->A 600 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112096_ENST00000367054 gene_Name: SODM_HUMAN 600 list of pdbs: 600 3C3T pdb_description: 22-Apr-08 X-ray 2.200 Role of a glutamate bridge spanning the dimeric interface of manganese superoxide dismutase 600 3C3S pdb_description: 22-Apr-08 X-ray 2.500 Role of a glutamate bridge spanning the dimeric interface of human manganese superoxide dismutase 600 2QKC pdb_description: 29-Jul-08 X-ray 2.300 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 600 2QKA pdb_description: 29-Jul-08 X-ray 2.200 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 600 2P4K pdb_description: 03-Apr-07 X-ray 1.480 Contribution to structure and catalysis of tyrosine 34 in human manganese superoxide dismutase 600 2GDS pdb_description: 28-Mar-06 X-ray 2.300 Interrupting the hydrogen bonding network at the active site of human manganese superoxide dismutase 600 2ADQ pdb_description: 04-Jul-06 X-ray 2.400 Human manganese superoxide dismutase 600 2ADP pdb_description: 04-Jul-06 X-ray 2.400 Nitrated human manganese superoxide dismutase 600 1ZUQ pdb_description: 02-May-06 X-ray 2.000 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 600 1ZTE pdb_description: 02-May-06 X-ray 1.850 Contribution to structure and catalysis of tyrosine 34 in human manganese suerpoxide dismutase 600 1ZSP pdb_description: 02-May-06 X-ray 1.900 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 600 1XIL pdb_description: 08-Mar-05 X-ray 1.530 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 600 1XDC pdb_description: 22-Mar-05 X-ray 1.850 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 600 1VAR pdb_description: 10-Jun-96 X-ray 2.500 Mitochondrial manganese superoxide dismutase variant with ile 58 replaced by thr 600 1SZX pdb_description: 27-Apr-04 X-ray 1.950 Role of hydrogen bonding in the active site of human mangane superoxide dismutase 600 1QNM pdb_description: 07-Jan-98 X-ray 2.300 Human manganese superoxide dismutase mutant q143n 600 1PM9 pdb_description: 16-Dec-03 X-ray 1.700 Crystal structure of human mnsod h30n, y166f mutant 600 1PL4 pdb_description: 16-Dec-03 X-ray 1.470 Crystal structure of human mnsod y166f mutant 600 1N0N pdb_description: 06-Nov-02 X-ray 1.820 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase 600 1N0J pdb_description: 06-Nov-02 X-ray 2.200 The structure of human mitochondrial mn3+ superoxide dismuta a novel tetrameric interface of two 4-helix bundles 600 1MSD pdb_description: 15-Jul-93 X-ray 3.200 Comparison of the crystal structures of genetically engineered human manganese superoxide dismutase and manganese superoxide dismutase from thermus thermophilus. Differences in dimer-dimer interactions. 600 1LUW pdb_description: 19-Jun-02 X-ray 2.300 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 600 1LUV pdb_description: 19-Jun-02 X-ray 1.850 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 600 1JA8 pdb_description: 06-Jun-01 X-ray 2.120 Kinetic analysis of product inhibition in human manganese su dismutase 600 1EM1 pdb_description: 24-Mar-00 X-ray 2.130 X-ray crystal structure for human manganese superoxide dismu q143a 600 1AP6 pdb_description: 28-Jan-98 X-ray 1.900 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 600 1AP5 pdb_description: 28-Jan-98 X-ray 2.200 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 600 Zimmer Variants: 600 chr6:160113872:A:G 552_47_16_V->A 600 HGMD Variants: 600 chr6:160113872:A:G 552_47_16_V->A 600 oneKG Variants: 600 chr6:160106038:T:A 552_254_85_D->V 0.000199681 600 chr6:160106042:G:A 552_250_84_R->C 0.000399361 600 chr6:160113872:A:G 552_47_16_V->A 0.410743 600 chr6:160113890:C:A 552_29_10_S->I 0.00139776 600 na12878 Variants: 600 chr6:160113872:A:G 552_47_16_V->A 600 snyder Variants: 600 chr6:160113872:A:G 552_47_16_V->A 601 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112096_ENST00000337404 gene_Name: SODM_HUMAN 601 list of pdbs: 601 3C3T pdb_description: 22-Apr-08 X-ray 2.200 Role of a glutamate bridge spanning the dimeric interface of manganese superoxide dismutase 601 3C3S pdb_description: 22-Apr-08 X-ray 2.500 Role of a glutamate bridge spanning the dimeric interface of human manganese superoxide dismutase 601 2QKC pdb_description: 29-Jul-08 X-ray 2.300 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 601 2QKA pdb_description: 29-Jul-08 X-ray 2.200 Structural and kinetic study of the differences between human and e.Coli manganese superoxide dismutases 601 2P4K pdb_description: 03-Apr-07 X-ray 1.480 Contribution to structure and catalysis of tyrosine 34 in human manganese superoxide dismutase 601 2GDS pdb_description: 28-Mar-06 X-ray 2.300 Interrupting the hydrogen bonding network at the active site of human manganese superoxide dismutase 601 2ADQ pdb_description: 04-Jul-06 X-ray 2.400 Human manganese superoxide dismutase 601 2ADP pdb_description: 04-Jul-06 X-ray 2.400 Nitrated human manganese superoxide dismutase 601 1ZUQ pdb_description: 02-May-06 X-ray 2.000 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 601 1ZTE pdb_description: 02-May-06 X-ray 1.850 Contribution to structure and catalysis of tyrosine 34 in human manganese suerpoxide dismutase 601 1ZSP pdb_description: 02-May-06 X-ray 1.900 Contribution to structure and catalysis of tyrosine 34 in hu manganese superoxide dismutase 601 1XIL pdb_description: 08-Mar-05 X-ray 1.530 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 601 1XDC pdb_description: 22-Mar-05 X-ray 1.850 Hydrogen bonding in human manganese superoxide dismutase con fluorotyrosine 601 1VAR pdb_description: 10-Jun-96 X-ray 2.500 Mitochondrial manganese superoxide dismutase variant with ile 58 replaced by thr 601 1SZX pdb_description: 27-Apr-04 X-ray 1.950 Role of hydrogen bonding in the active site of human mangane superoxide dismutase 601 1QNM pdb_description: 07-Jan-98 X-ray 2.300 Human manganese superoxide dismutase mutant q143n 601 1PM9 pdb_description: 16-Dec-03 X-ray 1.700 Crystal structure of human mnsod h30n, y166f mutant 601 1PL4 pdb_description: 16-Dec-03 X-ray 1.470 Crystal structure of human mnsod y166f mutant 601 1N0N pdb_description: 06-Nov-02 X-ray 1.820 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase 601 1N0J pdb_description: 06-Nov-02 X-ray 2.200 The structure of human mitochondrial mn3+ superoxide dismuta a novel tetrameric interface of two 4-helix bundles 601 1MSD pdb_description: 15-Jul-93 X-ray 3.200 Comparison of the crystal structures of genetically engineered human manganese superoxide dismutase and manganese superoxide dismutase from thermus thermophilus. Differences in dimer-dimer interactions. 601 1LUW pdb_description: 19-Jun-02 X-ray 2.300 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 601 1LUV pdb_description: 19-Jun-02 X-ray 1.850 Catalytic and structural effects of amino-acid substitution in human manganese superoxide dismutase: insertion of val c the substrate access channel 601 1JA8 pdb_description: 06-Jun-01 X-ray 2.120 Kinetic analysis of product inhibition in human manganese su dismutase 601 1EM1 pdb_description: 24-Mar-00 X-ray 2.130 X-ray crystal structure for human manganese superoxide dismu q143a 601 1AP6 pdb_description: 28-Jan-98 X-ray 1.900 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 601 1AP5 pdb_description: 28-Jan-98 X-ray 2.200 Tyr34->phe mutant of human mitochondrial manganese superoxid dismutase 601 Zimmer Variants: 601 chr6:160113872:A:G 552_47_16_V->A 601 HGMD Variants: 601 chr6:160113872:A:G 552_47_16_V->A 601 oneKG Variants: 601 chr6:160106038:T:A 552_254_85_D->V 0.000199681 601 chr6:160106042:G:A 552_250_84_R->C 0.000399361 601 chr6:160113872:A:G 552_47_16_V->A 0.410743 601 chr6:160113890:C:A 552_29_10_S->I 0.00139776 601 na12878 Variants: 601 chr6:160113872:A:G 552_47_16_V->A 601 snyder Variants: 601 chr6:160113872:A:G 552_47_16_V->A 602 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112294_ENST00000357578 gene_Name: SSDH_HUMAN 602 list of pdbs: 602 2W8R pdb_description: 09-Jun-09 X-ray 2.400 The crystal structure of human ssadh in complex with NAD+ 602 2W8Q pdb_description: 09-Jun-09 X-ray 2.400 The crystal structure of human ssadh in complex with ssa. 602 2W8P pdb_description: 09-Jun-09 X-ray 2.300 The crystal structure of human c340a ssadh 602 2W8O pdb_description: 09-Jun-09 X-ray 3.400 The crystal structure of the reduced form of human ssadh 602 2W8N pdb_description: 09-Jun-09 X-ray 2.000 The crystal structure of the oxidized form of human ssadh 602 Zimmer Variants: 602 chr6:24503590:C:T 1608_538_180_H->Y 602 HGMD Variants: 602 chr6:24495459:C:T 1608_235_79_Q->* 602 chr6:24502780:C:G 1608_384_128_Y->* 602 chr6:24503626:A:T 1608_574_192_K->* 602 chr6:24505099:G:A 1608_612_204_W->* 602 chr6:24515449:C:T 1608_781_261_R->* 602 chr6:24528285:C:T 1608_1234_412_R->* 602 chr6:24533872:C:T 1608_1540_514_R->* 602 chr6:24533889:T:G 1608_1557_519_Y->* 602 chr6:24495502:G:T 1608_278_93_C->F 602 chr6:24503548:T:C 1608_496_166_W->R 602 chr6:24503578:G:A 1608_526_176_G->R 602 chr6:24503590:C:T 1608_538_180_H->Y 602 chr6:24503597:C:T 1608_545_182_P->L 602 chr6:24503639:G:A 1608_587_196_G->D 602 chr6:24503641:G:A 1608_589_197_V->M 602 chr6:24505154:T:C 1608_667_223_C->R 602 chr6:24505155:G:A 1608_668_223_C->Y 602 chr6:24505185:C:T 1608_698_233_T->M 602 chr6:24505196:G:T 1608_709_237_A->S 602 chr6:24515432:A:G 1608_764_255_N->S 602 chr6:24515471:G:A 1608_803_268_G->E 602 chr6:24520659:A:G 1608_901_301_K->E 602 chr6:24520763:C:A 1608_1005_335_N->K 602 chr6:24523085:C:T 1608_1105_369_R->C 602 chr6:24523125:C:A 1608_1145_382_P->Q 602 chr6:24523125:C:T 1608_1145_382_P->L 602 chr6:24528277:G:A 1608_1226_409_G->D 602 chr6:24528345:A:C 1608_1294_432_M->L 602 chr6:24533792:T:A 1608_1460_487_V->E 602 chr6:24533929:G:A 1608_1597_533_G->R 602 oneKG Variants: 602 chr6:24495234:T:G 1608_10_4_C->G 0.00199681 602 chr6:24495237:A:G 1608_13_5_I->V 0.00139776 602 chr6:24495242:G:T 1608_18_6_W->C 0.000399361 602 chr6:24495330:G:C 1608_106_36_G->R 0.0495208 602 chr6:24495354:C:G 1608_130_44_L->V 0.00339457 602 chr6:24495382:G:C 1608_158_53_G->A 0.000199681 602 chr6:24495517:C:G 1608_293_98_A->G 0.000599042 602 chr6:24502769:C:T 1608_373_125_R->W 0.0 602 chr6:24502785:T:C 1608_389_130_L->S 0.000199681 602 chr6:24503513:A:G 1608_461_154_H->R 0.000399361 602 chr6:24503566:C:T 1608_514_172_R->C 0.000199681 602 chr6:24503570:G:A 1608_518_173_R->H 0.000599042 602 chr6:24503590:C:T 1608_538_180_H->Y 0.314696 602 chr6:24503594:C:T 1608_542_181_T->I 0.000599042 602 chr6:24503597:C:T 1608_545_182_P->L 0.0493211 602 chr6:24503657:C:T 1608_605_202_T->I 0.000399361 602 chr6:24505125:G:A 1608_638_213_R->Q 0.000199681 602 chr6:24505137:C:A 1608_650_217_A->D 0.000199681 602 chr6:24505196:G:T 1608_709_237_A->S 0.00678914 602 chr6:24515527:A:G 1608_859_287_T->A 0.000199681 602 chr6:24520644:G:A 1608_886_296_A->T 0.00319489 602 chr6:24520717:A:G 1608_959_320_N->S 0.000199681 602 chr6:24520719:G:A 1608_961_321_V->M 0.00159744 602 chr6:24523012:C:A 1608_1032_344_N->K 0.000199681 602 chr6:24523086:G:A 1608_1106_369_R->H 0.000399361 602 chr6:24523094:A:G 1608_1114_372_N->D 0.000399361 602 chr6:24523143:C:T 1608_1163_388_A->V 0.000199681 602 chr6:24528235:A:G 1608_1184_395_Q->R 0.000199681 602 chr6:24528237:G:A 1608_1186_396_V->M 0.000399361 602 chr6:24528249:G:A 1608_1198_400_V->I 0.00139776 602 chr6:24528262:C:G 1608_1211_404_A->G 0.000399361 602 chr6:24528331:A:G 1608_1280_427_N->S 0.000199681 602 chr6:24528359:T:G 1608_1308_436_H->Q 0.000399361 602 chr6:24528361:A:G 1608_1310_437_E->G 0.000199681 602 chr6:24528367:C:T 1608_1316_439_T->I 0.000199681 602 chr6:24532351:G:A 1608_1348_450_D->N 0.00239617 602 chr6:24533753:A:C 1608_1421_474_D->A 0.000399361 602 chr6:24533806:G:A 1608_1474_492_V->I 0.000399361 602 chr6:24533861:C:T 1608_1529_510_S->F 0.000199681 602 chr6:24533929:G:A 1608_1597_533_G->R 0.000199681 602 na12878 Variants: 602 chr6:24503590:C:T 1608_538_180_H->Y 602 snyder Variants: 602 chr6:24503590:C:T 1608_538_180_H->Y 603 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112294_ENST00000348925 gene_Name: SSDH_HUMAN 603 list of pdbs: 603 2W8R pdb_description: 09-Jun-09 X-ray 2.400 The crystal structure of human ssadh in complex with NAD+ 603 2W8Q pdb_description: 09-Jun-09 X-ray 2.400 The crystal structure of human ssadh in complex with ssa. 603 2W8P pdb_description: 09-Jun-09 X-ray 2.300 The crystal structure of human c340a ssadh 603 2W8O pdb_description: 09-Jun-09 X-ray 3.400 The crystal structure of the reduced form of human ssadh 603 2W8N pdb_description: 09-Jun-09 X-ray 2.000 The crystal structure of the oxidized form of human ssadh 603 Zimmer Variants: 603 chr6:24503590:C:T 1647_538_180_H->Y 603 HGMD Variants: 603 chr6:24495459:C:T 1647_235_79_Q->* 603 chr6:24502780:C:G 1647_384_128_Y->* 603 chr6:24503626:A:T 1647_574_192_K->* 603 chr6:24505099:G:A 1647_612_204_W->* 603 chr6:24515449:C:T 1647_820_274_R->* 603 chr6:24528285:C:T 1647_1273_425_R->* 603 chr6:24533872:C:T 1647_1579_527_R->* 603 chr6:24533889:T:G 1647_1596_532_Y->* 603 chr6:24495502:G:T 1647_278_93_C->F 603 chr6:24503548:T:C 1647_496_166_W->R 603 chr6:24503578:G:A 1647_526_176_G->R 603 chr6:24503590:C:T 1647_538_180_H->Y 603 chr6:24503597:C:T 1647_545_182_P->L 603 chr6:24503639:G:A 1647_587_196_G->D 603 chr6:24503641:G:A 1647_589_197_V->M 603 chr6:24505154:T:C 1647_667_223_C->R 603 chr6:24505155:G:A 1647_668_223_C->Y 603 chr6:24505185:C:T 1647_698_233_T->M 603 chr6:24505196:G:T 1647_709_237_A->S 603 chr6:24515432:A:G 1647_803_268_N->S 603 chr6:24515471:G:A 1647_842_281_G->E 603 chr6:24520659:A:G 1647_940_314_K->E 603 chr6:24520763:C:A 1647_1044_348_N->K 603 chr6:24523085:C:T 1647_1144_382_R->C 603 chr6:24523125:C:A 1647_1184_395_P->Q 603 chr6:24523125:C:T 1647_1184_395_P->L 603 chr6:24528277:G:A 1647_1265_422_G->D 603 chr6:24528345:A:C 1647_1333_445_M->L 603 chr6:24533792:T:A 1647_1499_500_V->E 603 chr6:24533929:G:A 1647_1636_546_G->R 603 oneKG Variants: 603 chr6:24495234:T:G 1647_10_4_C->G 0.00199681 603 chr6:24495237:A:G 1647_13_5_I->V 0.00139776 603 chr6:24495242:G:T 1647_18_6_W->C 0.000399361 603 chr6:24495330:G:C 1647_106_36_G->R 0.0495208 603 chr6:24495354:C:G 1647_130_44_L->V 0.00339457 603 chr6:24495382:G:C 1647_158_53_G->A 0.000199681 603 chr6:24495517:C:G 1647_293_98_A->G 0.000599042 603 chr6:24502769:C:T 1647_373_125_R->W 0.0 603 chr6:24502785:T:C 1647_389_130_L->S 0.000199681 603 chr6:24503513:A:G 1647_461_154_H->R 0.000399361 603 chr6:24503566:C:T 1647_514_172_R->C 0.000199681 603 chr6:24503570:G:A 1647_518_173_R->H 0.000599042 603 chr6:24503590:C:T 1647_538_180_H->Y 0.314696 603 chr6:24503594:C:T 1647_542_181_T->I 0.000599042 603 chr6:24503597:C:T 1647_545_182_P->L 0.0493211 603 chr6:24503657:C:T 1647_605_202_T->I 0.000399361 603 chr6:24505125:G:A 1647_638_213_R->Q 0.000199681 603 chr6:24505137:C:A 1647_650_217_A->D 0.000199681 603 chr6:24505196:G:T 1647_709_237_A->S 0.00678914 603 chr6:24515527:A:G 1647_898_300_T->A 0.000199681 603 chr6:24520644:G:A 1647_925_309_A->T 0.00319489 603 chr6:24520717:A:G 1647_998_333_N->S 0.000199681 603 chr6:24520719:G:A 1647_1000_334_V->M 0.00159744 603 chr6:24523012:C:A 1647_1071_357_N->K 0.000199681 603 chr6:24523086:G:A 1647_1145_382_R->H 0.000399361 603 chr6:24523094:A:G 1647_1153_385_N->D 0.000399361 603 chr6:24523143:C:T 1647_1202_401_A->V 0.000199681 603 chr6:24528235:A:G 1647_1223_408_Q->R 0.000199681 603 chr6:24528237:G:A 1647_1225_409_V->M 0.000399361 603 chr6:24528249:G:A 1647_1237_413_V->I 0.00139776 603 chr6:24528262:C:G 1647_1250_417_A->G 0.000399361 603 chr6:24528331:A:G 1647_1319_440_N->S 0.000199681 603 chr6:24528359:T:G 1647_1347_449_H->Q 0.000399361 603 chr6:24528361:A:G 1647_1349_450_E->G 0.000199681 603 chr6:24528367:C:T 1647_1355_452_T->I 0.000199681 603 chr6:24532351:G:A 1647_1387_463_D->N 0.00239617 603 chr6:24533753:A:C 1647_1460_487_D->A 0.000399361 603 chr6:24533806:G:A 1647_1513_505_V->I 0.000399361 603 chr6:24533861:C:T 1647_1568_523_S->F 0.000199681 603 chr6:24533929:G:A 1647_1636_546_G->R 0.000199681 603 na12878 Variants: 603 chr6:24503590:C:T 1647_538_180_H->Y 603 snyder Variants: 603 chr6:24503590:C:T 1647_538_180_H->Y 604 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137261_ENST00000537886 gene_Name: K0319_HUMAN 604 list of pdbs: 604 2E7M pdb_description: 17-Jul-07 NMR 20 Solution structure of the pkd domain (329-428) from human kiaa0319 604 Zimmer Variants: 604 chr6:24596478:T:G 3036_424_142_T->P 604 HGMD Variants: 604 chr6:24588884:C:T 3036_931_311_A->T 604 oneKG Variants: 604 chr6:24547527:A:T 3036_2902_968_S->T 0.000199681 604 chr6:24547532:A:G 3036_2897_966_M->T 0.000199681 604 chr6:24547568:A:G 3036_2861_954_I->T 0.000199681 604 chr6:24556849:C:G 3036_2843_948_G->A 0.000199681 604 chr6:24556936:C:G 3036_2756_919_G->A 0.00279553 604 chr6:24559244:C:T 3036_2731_911_A->T 0.000199681 604 chr6:24559300:C:T 3036_2675_892_R->Q 0.000199681 604 chr6:24559301:G:A 3036_2674_892_R->W 0.000199681 604 chr6:24559302:C:G 3036_2673_891_M->I 0.000199681 604 chr6:24559315:C:T 3036_2660_887_R->Q 0.000199681 604 chr6:24559351:G:A 3036_2624_875_P->L 0.000199681 604 chr6:24559359:C:G 3036_2616_872_Q->H 0.000199681 604 chr6:24563639:C:T 3036_2539_847_V->M 0.000199681 604 chr6:24564473:C:G 3036_2388_796_Q->H 0.000199681 604 chr6:24564540:A:G 3036_2321_774_V->A 0.04373 604 chr6:24564544:T:C 3036_2317_773_S->G 0.04373 604 chr6:24566905:A:T 3036_2212_738_L->M 0.000199681 604 chr6:24566946:C:T 3036_2171_724_G->D 0.000199681 604 chr6:24566953:G:A 3036_2164_722_R->W 0.00199681 604 chr6:24566962:G:T 3036_2155_719_P->T 0.000199681 604 chr6:24569041:C:T 3036_2108_703_S->N 0.00199681 604 chr6:24569087:T:C 3036_2062_688_T->A 0.000399361 604 chr6:24570170:T:C 3036_1952_651_D->G 0.000199681 604 chr6:24572893:T:C 3036_1768_590_M->V 0.00339457 604 chr6:24576627:G:A 3036_1703_568_P->L 0.000199681 604 chr6:24576631:C:T 3036_1699_567_G->S 0.0742812 604 chr6:24576643:C:G 3036_1687_563_E->Q 0.000998403 604 chr6:24576663:T:C 3036_1667_556_D->G 0.000199681 604 chr6:24576664:C:T 3036_1666_556_D->N 0.000399361 604 chr6:24576671:G:T 3036_1659_553_S->R 0.000199681 604 chr6:24576690:G:A 3036_1640_547_T->I 0.000199681 604 chr6:24576705:G:T 3036_1625_542_P->H 0.000399361 604 chr6:24576718:T:G 3036_1612_538_T->P 0.000199681 604 chr6:24576720:T:A 3036_1610_537_H->L 0.000199681 604 chr6:24576732:G:A 3036_1598_533_A->V 0.000199681 604 chr6:24576771:A:T 3036_1559_520_I->K 0.000998403 604 chr6:24576807:G:A 3036_1523_508_S->L 0.000199681 604 chr6:24578375:G:C 3036_1468_490_R->G 0.000199681 604 chr6:24578409:T:C 3036_1434_478_I->M 0.00139776 604 chr6:24578455:G:C 3036_1388_463_T->S 0.000199681 604 chr6:24580097:A:G 3036_1361_454_I->T 0.00239617 604 chr6:24580104:C:G 3036_1354_452_A->P 0.000199681 604 chr6:24581216:T:C 3036_1217_406_K->R 0.000199681 604 chr6:24582533:T:C 3036_1135_379_T->A 0.000199681 604 chr6:24583835:C:T 3036_1090_364_V->I 0.000199681 604 chr6:24583841:G:A 3036_1084_362_P->S 0.000399361 604 chr6:24583847:G:A 3036_1078_360_P->S 0.000399361 604 chr6:24583859:C:T 3036_1066_356_A->T 0.00119808 604 chr6:24588826:C:A 3036_989_330_R->M 0.000998403 604 chr6:24588853:A:G 3036_962_321_L->P 0.000199681 604 chr6:24588884:C:T 3036_931_311_A->T 0.205871 604 chr6:24588899:T:C 3036_916_306_T->A 0.00159744 604 chr6:24588956:C:T 3036_859_287_V->M 0.000199681 604 chr6:24596112:A:T 3036_790_264_S->T 0.00499201 604 chr6:24596132:T:C 3036_770_257_Q->R 0.000199681 604 chr6:24596137:C:A 3036_765_255_Q->H 0.000599042 604 chr6:24596245:A:C 3036_657_219_N->K 0.000199681 604 chr6:24596342:A:G 3036_560_187_L->P 0.000998403 604 chr6:24596361:C:T 3036_541_181_E->K 0.000199681 604 chr6:24596377:C:A 3036_525_175_E->D 0.00219649 604 chr6:24596420:C:T 3036_482_161_R->Q 0.000199681 604 chr6:24596421:G:A 3036_481_161_R->W 0.000199681 604 chr6:24596433:A:C 3036_469_157_S->A 0.0267572 604 chr6:24596478:T:G 3036_424_142_T->P 0.060104 604 chr6:24596526:G:T 3036_376_126_P->T 0.00179712 604 chr6:24596589:G:A 3036_313_105_R->W 0.000199681 604 chr6:24596591:A:G 3036_311_104_L->P 0.000199681 604 chr6:24596673:A:G 3036_229_77_C->R 0.000199681 604 chr6:24596678:C:T 3036_224_75_G->D 0.000399361 604 chr6:24596683:G:C 3036_219_73_F->L 0.000199681 604 chr6:24596739:C:T 3036_163_55_V->I 0.000199681 604 chr6:24596742:C:G 3036_160_54_V->L 0.00658946 604 chr6:24596829:A:G 3036_73_25_C->R 0.000199681 604 na12878 Variants: 604 chr6:24596478:T:G 3036_424_142_T->P 604 chr6:24588884:C:T 3036_931_311_A->T 604 snyder Variants: 604 chr6:24596478:T:G 3036_424_142_T->P 605 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137261_ENST00000535378 gene_Name: K0319_HUMAN 605 list of pdbs: 605 2E7M pdb_description: 17-Jul-07 NMR 20 Solution structure of the pkd domain (329-428) from human kiaa0319 605 Zimmer Variants: 605 chr6:24596478:T:G 3192_397_133_T->P 605 HGMD Variants: 605 chr6:24588884:C:T 3192_904_302_A->T 605 oneKG Variants: 605 chr6:24547527:A:T 3192_3058_1020_S->T 0.000199681 605 chr6:24547532:A:G 3192_3053_1018_M->T 0.000199681 605 chr6:24547568:A:G 3192_3017_1006_I->T 0.000199681 605 chr6:24551664:T:C 3192_3011_1004_Y->C 0.096845 605 chr6:24551671:G:T 3192_3004_1002_P->T 0.000399361 605 chr6:24554849:T:C 3192_2841_947_I->M 0.000599042 605 chr6:24556849:C:G 3192_2816_939_G->A 0.000199681 605 chr6:24556936:C:G 3192_2729_910_G->A 0.00279553 605 chr6:24559244:C:T 3192_2704_902_A->T 0.000199681 605 chr6:24559300:C:T 3192_2648_883_R->Q 0.000199681 605 chr6:24559301:G:A 3192_2647_883_R->W 0.000199681 605 chr6:24559302:C:G 3192_2646_882_M->I 0.000199681 605 chr6:24559315:C:T 3192_2633_878_R->Q 0.000199681 605 chr6:24559351:G:A 3192_2597_866_P->L 0.000199681 605 chr6:24559359:C:G 3192_2589_863_Q->H 0.000199681 605 chr6:24563639:C:T 3192_2512_838_V->M 0.000199681 605 chr6:24564473:C:G 3192_2361_787_Q->H 0.000199681 605 chr6:24564540:A:G 3192_2294_765_V->A 0.04373 605 chr6:24564544:T:C 3192_2290_764_S->G 0.04373 605 chr6:24566905:A:T 3192_2185_729_L->M 0.000199681 605 chr6:24566946:C:T 3192_2144_715_G->D 0.000199681 605 chr6:24566953:G:A 3192_2137_713_R->W 0.00199681 605 chr6:24566962:G:T 3192_2128_710_P->T 0.000199681 605 chr6:24569041:C:T 3192_2081_694_S->N 0.00199681 605 chr6:24569087:T:C 3192_2035_679_T->A 0.000399361 605 chr6:24570170:T:C 3192_1925_642_D->G 0.000199681 605 chr6:24572893:T:C 3192_1741_581_M->V 0.00339457 605 chr6:24576627:G:A 3192_1676_559_P->L 0.000199681 605 chr6:24576631:C:T 3192_1672_558_G->S 0.0742812 605 chr6:24576643:C:G 3192_1660_554_E->Q 0.000998403 605 chr6:24576663:T:C 3192_1640_547_D->G 0.000199681 605 chr6:24576664:C:T 3192_1639_547_D->N 0.000399361 605 chr6:24576671:G:T 3192_1632_544_S->R 0.000199681 605 chr6:24576690:G:A 3192_1613_538_T->I 0.000199681 605 chr6:24576705:G:T 3192_1598_533_P->H 0.000399361 605 chr6:24576718:T:G 3192_1585_529_T->P 0.000199681 605 chr6:24576720:T:A 3192_1583_528_H->L 0.000199681 605 chr6:24576732:G:A 3192_1571_524_A->V 0.000199681 605 chr6:24576771:A:T 3192_1532_511_I->K 0.000998403 605 chr6:24576807:G:A 3192_1496_499_S->L 0.000199681 605 chr6:24578375:G:C 3192_1441_481_R->G 0.000199681 605 chr6:24578409:T:C 3192_1407_469_I->M 0.00139776 605 chr6:24578455:G:C 3192_1361_454_T->S 0.000199681 605 chr6:24580097:A:G 3192_1334_445_I->T 0.00239617 605 chr6:24580104:C:G 3192_1327_443_A->P 0.000199681 605 chr6:24581216:T:C 3192_1190_397_K->R 0.000199681 605 chr6:24582533:T:C 3192_1108_370_T->A 0.000199681 605 chr6:24583835:C:T 3192_1063_355_V->I 0.000199681 605 chr6:24583841:G:A 3192_1057_353_P->S 0.000399361 605 chr6:24583847:G:A 3192_1051_351_P->S 0.000399361 605 chr6:24583859:C:T 3192_1039_347_A->T 0.00119808 605 chr6:24588826:C:A 3192_962_321_R->M 0.000998403 605 chr6:24588853:A:G 3192_935_312_L->P 0.000199681 605 chr6:24588884:C:T 3192_904_302_A->T 0.205871 605 chr6:24588899:T:C 3192_889_297_T->A 0.00159744 605 chr6:24588956:C:T 3192_832_278_V->M 0.000199681 605 chr6:24596112:A:T 3192_763_255_S->T 0.00499201 605 chr6:24596132:T:C 3192_743_248_Q->R 0.000199681 605 chr6:24596137:C:A 3192_738_246_Q->H 0.000599042 605 chr6:24596245:A:C 3192_630_210_N->K 0.000199681 605 chr6:24596342:A:G 3192_533_178_L->P 0.000998403 605 chr6:24596361:C:T 3192_514_172_E->K 0.000199681 605 chr6:24596377:C:A 3192_498_166_E->D 0.00219649 605 chr6:24596420:C:T 3192_455_152_R->Q 0.000199681 605 chr6:24596421:G:A 3192_454_152_R->W 0.000199681 605 chr6:24596433:A:C 3192_442_148_S->A 0.0267572 605 chr6:24596478:T:G 3192_397_133_T->P 0.060104 605 chr6:24596526:G:T 3192_349_117_P->T 0.00179712 605 chr6:24596589:G:A 3192_286_96_R->W 0.000199681 605 chr6:24596591:A:G 3192_284_95_L->P 0.000199681 605 chr6:24596673:A:G 3192_202_68_C->R 0.000199681 605 chr6:24596678:C:T 3192_197_66_G->D 0.000399361 605 chr6:24596683:G:C 3192_192_64_F->L 0.000199681 605 chr6:24596739:C:T 3192_136_46_V->I 0.000199681 605 chr6:24596742:C:G 3192_133_45_V->L 0.00658946 605 chr6:24596829:A:G 3192_46_16_C->R 0.000199681 605 na12878 Variants: 605 chr6:24596478:T:G 3192_397_133_T->P 605 chr6:24588884:C:T 3192_904_302_A->T 605 snyder Variants: 605 chr6:24596478:T:G 3192_397_133_T->P 605 chr6:24551664:T:C 3192_3011_1004_Y->C 606 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137261_ENST00000430948 gene_Name: K0319_HUMAN 606 list of pdbs: 606 2E7M pdb_description: 17-Jul-07 NMR 20 Solution structure of the pkd domain (329-428) from human kiaa0319 606 Zimmer Variants: 606 chr6:24596478:T:G 3084_289_97_T->P;GENE=KIAA0319;CDSS=2 606 HGMD Variants: 606 chr6:24588884:C:T 3084_796_266_A->T 606 oneKG Variants: 606 chr6:24547527:A:T 3084_2950_984_S->T 0.000199681 606 chr6:24547532:A:G 3084_2945_982_M->T 0.000199681 606 chr6:24547568:A:G 3084_2909_970_I->T 0.000199681 606 chr6:24551664:T:C 3084_2903_968_Y->C 0.096845 606 chr6:24551671:G:T 3084_2896_966_P->T 0.000399361 606 chr6:24554849:T:C 3084_2733_911_I->M 0.000599042 606 chr6:24556849:C:G 3084_2708_903_G->A 0.000199681 606 chr6:24556936:C:G 3084_2621_874_G->A 0.00279553 606 chr6:24559244:C:T 3084_2596_866_A->T 0.000199681 606 chr6:24559300:C:T 3084_2540_847_R->Q 0.000199681 606 chr6:24559301:G:A 3084_2539_847_R->W 0.000199681 606 chr6:24559302:C:G 3084_2538_846_M->I 0.000199681 606 chr6:24559315:C:T 3084_2525_842_R->Q 0.000199681 606 chr6:24559351:G:A 3084_2489_830_P->L 0.000199681 606 chr6:24559359:C:G 3084_2481_827_Q->H 0.000199681 606 chr6:24563639:C:T 3084_2404_802_V->M 0.000199681 606 chr6:24564473:C:G 3084_2253_751_Q->H 0.000199681 606 chr6:24564540:A:G 3084_2186_729_V->A 0.04373 606 chr6:24564544:T:C 3084_2182_728_S->G 0.04373 606 chr6:24566905:A:T 3084_2077_693_L->M 0.000199681 606 chr6:24566946:C:T 3084_2036_679_G->D 0.000199681 606 chr6:24566953:G:A 3084_2029_677_R->W 0.00199681 606 chr6:24566962:G:T 3084_2020_674_P->T 0.000199681 606 chr6:24569041:C:T 3084_1973_658_S->N 0.00199681 606 chr6:24569087:T:C 3084_1927_643_T->A 0.000399361 606 chr6:24570170:T:C 3084_1817_606_D->G 0.000199681 606 chr6:24572893:T:C 3084_1633_545_M->V 0.00339457 606 chr6:24576627:G:A 3084_1568_523_P->L 0.000199681 606 chr6:24576631:C:T 3084_1564_522_G->S 0.0742812 606 chr6:24576643:C:G 3084_1552_518_E->Q 0.000998403 606 chr6:24576663:T:C 3084_1532_511_D->G 0.000199681 606 chr6:24576664:C:T 3084_1531_511_D->N 0.000399361 606 chr6:24576671:G:T 3084_1524_508_S->R 0.000199681 606 chr6:24576690:G:A 3084_1505_502_T->I 0.000199681 606 chr6:24576705:G:T 3084_1490_497_P->H 0.000399361 606 chr6:24576718:T:G 3084_1477_493_T->P 0.000199681 606 chr6:24576720:T:A 3084_1475_492_H->L 0.000199681 606 chr6:24576732:G:A 3084_1463_488_A->V 0.000199681 606 chr6:24576771:A:T 3084_1424_475_I->K 0.000998403 606 chr6:24576807:G:A 3084_1388_463_S->L 0.000199681 606 chr6:24578375:G:C 3084_1333_445_R->G 0.000199681 606 chr6:24578409:T:C 3084_1299_433_I->M 0.00139776 606 chr6:24578455:G:C 3084_1253_418_T->S 0.000199681 606 chr6:24580097:A:G 3084_1226_409_I->T 0.00239617 606 chr6:24580104:C:G 3084_1219_407_A->P 0.000199681 606 chr6:24581216:T:C 3084_1082_361_K->R 0.000199681 606 chr6:24582533:T:C 3084_1000_334_T->A 0.000199681 606 chr6:24583835:C:T 3084_955_319_V->I 0.000199681 606 chr6:24583841:G:A 3084_949_317_P->S 0.000399361 606 chr6:24583847:G:A 3084_943_315_P->S 0.000399361 606 chr6:24583859:C:T 3084_931_311_A->T 0.00119808 606 chr6:24588826:C:A 3084_854_285_R->M 0.000998403 606 chr6:24588853:A:G 3084_827_276_L->P 0.000199681 606 chr6:24588884:C:T 3084_796_266_A->T 0.205871 606 chr6:24588899:T:C 3084_781_261_T->A 0.00159744 606 chr6:24588956:C:T 3084_724_242_V->M 0.000199681 606 chr6:24596112:A:T 3084_655_219_S->T 0.00499201 606 chr6:24596132:T:C 3084_635_212_Q->R 0.000199681 606 chr6:24596137:C:A 3084_630_210_Q->H 0.000599042 606 chr6:24596245:A:C 3084_522_174_N->K 0.000199681 606 chr6:24596342:A:G 3084_425_142_L->P 0.000998403 606 chr6:24596361:C:T 3084_406_136_E->K 0.000199681 606 chr6:24596377:C:A 3084_390_130_E->D 0.00219649 606 chr6:24596420:C:T 3084_347_116_R->Q 0.000199681 606 chr6:24596421:G:A 3084_346_116_R->W 0.000199681 606 chr6:24596433:A:C 3084_334_112_S->A 0.0267572 606 chr6:24596478:T:G 3084_289_97_T->P 0.060104 606 chr6:24596526:G:T 3084_241_81_P->T 0.00179712 606 chr6:24596589:G:A 3084_178_60_R->W 0.000199681 606 chr6:24596591:A:G 3084_176_59_L->P 0.000199681 606 chr6:24596673:A:G 3084_94_32_C->R 0.000199681 606 chr6:24596678:C:T 3084_89_30_G->D 0.000399361 606 chr6:24596683:G:C 3084_84_28_F->L 0.000199681 606 chr6:24596739:C:T 3084_28_10_V->I 0.000199681 606 chr6:24596742:C:G 3084_25_9_V->L 0.00658946 606 na12878 Variants: 606 chr6:24596478:T:G 3084_289_97_T->P 606 chr6:24588884:C:T 3084_796_266_A->T 606 snyder Variants: 606 chr6:24596478:T:G 3084_289_97_T->P 606 chr6:24551664:T:C 3084_2903_968_Y->C 607 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137261_ENST00000378214 gene_Name: K0319_HUMAN 607 list of pdbs: 607 2E7M pdb_description: 17-Jul-07 NMR 20 Solution structure of the pkd domain (329-428) from human kiaa0319 607 Zimmer Variants: 607 chr6:24596478:T:G 3219_424_142_T->P 607 HGMD Variants: 607 chr6:24588884:C:T 3219_931_311_A->T 607 oneKG Variants: 607 chr6:24547527:A:T 3219_3085_1029_S->T 0.000199681 607 chr6:24547532:A:G 3219_3080_1027_M->T 0.000199681 607 chr6:24547568:A:G 3219_3044_1015_I->T 0.000199681 607 chr6:24551664:T:C 3219_3038_1013_Y->C 0.096845 607 chr6:24551671:G:T 3219_3031_1011_P->T 0.000399361 607 chr6:24554849:T:C 3219_2868_956_I->M 0.000599042 607 chr6:24556849:C:G 3219_2843_948_G->A 0.000199681 607 chr6:24556936:C:G 3219_2756_919_G->A 0.00279553 607 chr6:24559244:C:T 3219_2731_911_A->T 0.000199681 607 chr6:24559300:C:T 3219_2675_892_R->Q 0.000199681 607 chr6:24559301:G:A 3219_2674_892_R->W 0.000199681 607 chr6:24559302:C:G 3219_2673_891_M->I 0.000199681 607 chr6:24559315:C:T 3219_2660_887_R->Q 0.000199681 607 chr6:24559351:G:A 3219_2624_875_P->L 0.000199681 607 chr6:24559359:C:G 3219_2616_872_Q->H 0.000199681 607 chr6:24563639:C:T 3219_2539_847_V->M 0.000199681 607 chr6:24564473:C:G 3219_2388_796_Q->H 0.000199681 607 chr6:24564540:A:G 3219_2321_774_V->A 0.04373 607 chr6:24564544:T:C 3219_2317_773_S->G 0.04373 607 chr6:24566905:A:T 3219_2212_738_L->M 0.000199681 607 chr6:24566946:C:T 3219_2171_724_G->D 0.000199681 607 chr6:24566953:G:A 3219_2164_722_R->W 0.00199681 607 chr6:24566962:G:T 3219_2155_719_P->T 0.000199681 607 chr6:24569041:C:T 3219_2108_703_S->N 0.00199681 607 chr6:24569087:T:C 3219_2062_688_T->A 0.000399361 607 chr6:24570170:T:C 3219_1952_651_D->G 0.000199681 607 chr6:24572893:T:C 3219_1768_590_M->V 0.00339457 607 chr6:24576627:G:A 3219_1703_568_P->L 0.000199681 607 chr6:24576631:C:T 3219_1699_567_G->S 0.0742812 607 chr6:24576643:C:G 3219_1687_563_E->Q 0.000998403 607 chr6:24576663:T:C 3219_1667_556_D->G 0.000199681 607 chr6:24576664:C:T 3219_1666_556_D->N 0.000399361 607 chr6:24576671:G:T 3219_1659_553_S->R 0.000199681 607 chr6:24576690:G:A 3219_1640_547_T->I 0.000199681 607 chr6:24576705:G:T 3219_1625_542_P->H 0.000399361 607 chr6:24576718:T:G 3219_1612_538_T->P 0.000199681 607 chr6:24576720:T:A 3219_1610_537_H->L 0.000199681 607 chr6:24576732:G:A 3219_1598_533_A->V 0.000199681 607 chr6:24576771:A:T 3219_1559_520_I->K 0.000998403 607 chr6:24576807:G:A 3219_1523_508_S->L 0.000199681 607 chr6:24578375:G:C 3219_1468_490_R->G 0.000199681 607 chr6:24578409:T:C 3219_1434_478_I->M 0.00139776 607 chr6:24578455:G:C 3219_1388_463_T->S 0.000199681 607 chr6:24580097:A:G 3219_1361_454_I->T 0.00239617 607 chr6:24580104:C:G 3219_1354_452_A->P 0.000199681 607 chr6:24581216:T:C 3219_1217_406_K->R 0.000199681 607 chr6:24582533:T:C 3219_1135_379_T->A 0.000199681 607 chr6:24583835:C:T 3219_1090_364_V->I 0.000199681 607 chr6:24583841:G:A 3219_1084_362_P->S 0.000399361 607 chr6:24583847:G:A 3219_1078_360_P->S 0.000399361 607 chr6:24583859:C:T 3219_1066_356_A->T 0.00119808 607 chr6:24588826:C:A 3219_989_330_R->M 0.000998403 607 chr6:24588853:A:G 3219_962_321_L->P 0.000199681 607 chr6:24588884:C:T 3219_931_311_A->T 0.205871 607 chr6:24588899:T:C 3219_916_306_T->A 0.00159744 607 chr6:24588956:C:T 3219_859_287_V->M 0.000199681 607 chr6:24596112:A:T 3219_790_264_S->T 0.00499201 607 chr6:24596132:T:C 3219_770_257_Q->R 0.000199681 607 chr6:24596137:C:A 3219_765_255_Q->H 0.000599042 607 chr6:24596245:A:C 3219_657_219_N->K 0.000199681 607 chr6:24596342:A:G 3219_560_187_L->P 0.000998403 607 chr6:24596361:C:T 3219_541_181_E->K 0.000199681 607 chr6:24596377:C:A 3219_525_175_E->D 0.00219649 607 chr6:24596420:C:T 3219_482_161_R->Q 0.000199681 607 chr6:24596421:G:A 3219_481_161_R->W 0.000199681 607 chr6:24596433:A:C 3219_469_157_S->A 0.0267572 607 chr6:24596478:T:G 3219_424_142_T->P 0.060104 607 chr6:24596526:G:T 3219_376_126_P->T 0.00179712 607 chr6:24596589:G:A 3219_313_105_R->W 0.000199681 607 chr6:24596591:A:G 3219_311_104_L->P 0.000199681 607 chr6:24596673:A:G 3219_229_77_C->R 0.000199681 607 chr6:24596678:C:T 3219_224_75_G->D 0.000399361 607 chr6:24596683:G:C 3219_219_73_F->L 0.000199681 607 chr6:24596739:C:T 3219_163_55_V->I 0.000199681 607 chr6:24596742:C:G 3219_160_54_V->L 0.00658946 607 chr6:24596829:A:G 3219_73_25_C->R 0.000199681 607 na12878 Variants: 607 chr6:24596478:T:G 3219_424_142_T->P 607 chr6:24588884:C:T 3219_931_311_A->T 607 snyder Variants: 607 chr6:24596478:T:G 3219_424_142_T->P 607 chr6:24551664:T:C 3219_3038_1013_Y->C 608 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000137261_ENST00000543707 gene_Name: K0319_HUMAN 608 list of pdbs: 608 2E7M pdb_description: 17-Jul-07 NMR 20 Solution structure of the pkd domain (329-428) from human kiaa0319 608 Zimmer Variants: 608 chr6:24596478:T:G 3219_424_142_T->P 608 HGMD Variants: 608 chr6:24588884:C:T 3219_931_311_A->T 608 oneKG Variants: 608 chr6:24547527:A:T 3219_3085_1029_S->T 0.000199681 608 chr6:24547532:A:G 3219_3080_1027_M->T 0.000199681 608 chr6:24547568:A:G 3219_3044_1015_I->T 0.000199681 608 chr6:24551664:T:C 3219_3038_1013_Y->C 0.096845 608 chr6:24551671:G:T 3219_3031_1011_P->T 0.000399361 608 chr6:24554849:T:C 3219_2868_956_I->M 0.000599042 608 chr6:24556849:C:G 3219_2843_948_G->A 0.000199681 608 chr6:24556936:C:G 3219_2756_919_G->A 0.00279553 608 chr6:24559244:C:T 3219_2731_911_A->T 0.000199681 608 chr6:24559300:C:T 3219_2675_892_R->Q 0.000199681 608 chr6:24559301:G:A 3219_2674_892_R->W 0.000199681 608 chr6:24559302:C:G 3219_2673_891_M->I 0.000199681 608 chr6:24559315:C:T 3219_2660_887_R->Q 0.000199681 608 chr6:24559351:G:A 3219_2624_875_P->L 0.000199681 608 chr6:24559359:C:G 3219_2616_872_Q->H 0.000199681 608 chr6:24563639:C:T 3219_2539_847_V->M 0.000199681 608 chr6:24564473:C:G 3219_2388_796_Q->H 0.000199681 608 chr6:24564540:A:G 3219_2321_774_V->A 0.04373 608 chr6:24564544:T:C 3219_2317_773_S->G 0.04373 608 chr6:24566905:A:T 3219_2212_738_L->M 0.000199681 608 chr6:24566946:C:T 3219_2171_724_G->D 0.000199681 608 chr6:24566953:G:A 3219_2164_722_R->W 0.00199681 608 chr6:24566962:G:T 3219_2155_719_P->T 0.000199681 608 chr6:24569041:C:T 3219_2108_703_S->N 0.00199681 608 chr6:24569087:T:C 3219_2062_688_T->A 0.000399361 608 chr6:24570170:T:C 3219_1952_651_D->G 0.000199681 608 chr6:24572893:T:C 3219_1768_590_M->V 0.00339457 608 chr6:24576627:G:A 3219_1703_568_P->L 0.000199681 608 chr6:24576631:C:T 3219_1699_567_G->S 0.0742812 608 chr6:24576643:C:G 3219_1687_563_E->Q 0.000998403 608 chr6:24576663:T:C 3219_1667_556_D->G 0.000199681 608 chr6:24576664:C:T 3219_1666_556_D->N 0.000399361 608 chr6:24576671:G:T 3219_1659_553_S->R 0.000199681 608 chr6:24576690:G:A 3219_1640_547_T->I 0.000199681 608 chr6:24576705:G:T 3219_1625_542_P->H 0.000399361 608 chr6:24576718:T:G 3219_1612_538_T->P 0.000199681 608 chr6:24576720:T:A 3219_1610_537_H->L 0.000199681 608 chr6:24576732:G:A 3219_1598_533_A->V 0.000199681 608 chr6:24576771:A:T 3219_1559_520_I->K 0.000998403 608 chr6:24576807:G:A 3219_1523_508_S->L 0.000199681 608 chr6:24578375:G:C 3219_1468_490_R->G 0.000199681 608 chr6:24578409:T:C 3219_1434_478_I->M 0.00139776 608 chr6:24578455:G:C 3219_1388_463_T->S 0.000199681 608 chr6:24580097:A:G 3219_1361_454_I->T 0.00239617 608 chr6:24580104:C:G 3219_1354_452_A->P 0.000199681 608 chr6:24581216:T:C 3219_1217_406_K->R 0.000199681 608 chr6:24582533:T:C 3219_1135_379_T->A 0.000199681 608 chr6:24583835:C:T 3219_1090_364_V->I 0.000199681 608 chr6:24583841:G:A 3219_1084_362_P->S 0.000399361 608 chr6:24583847:G:A 3219_1078_360_P->S 0.000399361 608 chr6:24583859:C:T 3219_1066_356_A->T 0.00119808 608 chr6:24588826:C:A 3219_989_330_R->M 0.000998403 608 chr6:24588853:A:G 3219_962_321_L->P 0.000199681 608 chr6:24588884:C:T 3219_931_311_A->T 0.205871 608 chr6:24588899:T:C 3219_916_306_T->A 0.00159744 608 chr6:24588956:C:T 3219_859_287_V->M 0.000199681 608 chr6:24596112:A:T 3219_790_264_S->T 0.00499201 608 chr6:24596132:T:C 3219_770_257_Q->R 0.000199681 608 chr6:24596137:C:A 3219_765_255_Q->H 0.000599042 608 chr6:24596245:A:C 3219_657_219_N->K 0.000199681 608 chr6:24596342:A:G 3219_560_187_L->P 0.000998403 608 chr6:24596361:C:T 3219_541_181_E->K 0.000199681 608 chr6:24596377:C:A 3219_525_175_E->D 0.00219649 608 chr6:24596420:C:T 3219_482_161_R->Q 0.000199681 608 chr6:24596421:G:A 3219_481_161_R->W 0.000199681 608 chr6:24596433:A:C 3219_469_157_S->A 0.0267572 608 chr6:24596478:T:G 3219_424_142_T->P 0.060104 608 chr6:24596526:G:T 3219_376_126_P->T 0.00179712 608 chr6:24596589:G:A 3219_313_105_R->W 0.000199681 608 chr6:24596591:A:G 3219_311_104_L->P 0.000199681 608 chr6:24596673:A:G 3219_229_77_C->R 0.000199681 608 chr6:24596678:C:T 3219_224_75_G->D 0.000399361 608 chr6:24596683:G:C 3219_219_73_F->L 0.000199681 608 chr6:24596739:C:T 3219_163_55_V->I 0.000199681 608 chr6:24596742:C:G 3219_160_54_V->L 0.00658946 608 chr6:24596829:A:G 3219_73_25_C->R 0.000199681 608 na12878 Variants: 608 chr6:24596478:T:G 3219_424_142_T->P 608 chr6:24588884:C:T 3219_931_311_A->T 608 snyder Variants: 608 chr6:24596478:T:G 3219_424_142_T->P 608 chr6:24551664:T:C 3219_3038_1013_Y->C 609 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000168477_ENST00000375247 gene_Name: TENX_HUMAN 609 list of pdbs: 609 2CUM pdb_description: 26-Nov-05 NMR 20 The solution structure of the 33rd fibronectin type iii domain of human tenascin-x 609 2CUI pdb_description: 26-Nov-05 NMR 20 Solution structure of the 31st fibronectin type iii domain of the human tenascin x 609 2CUH pdb_description: 26-Nov-05 NMR 20 Solution structure of the 31st fibronectin type iii domain of the human tenascin x 609 Zimmer Variants: 609 chr6:32026107:C:T 12729_7553_2518_G->E;GENE=TNXB;CDSS=2;DBRECUR=TNXB 609 chr6:32050067:T:C 12729_3482_1161_H->R;GENE=TNXB;CDSS=2;DBRECUR=TNXB 609 HGMD Variants: 609 chr6:32049975:G:A 12729_3574_1192_Q->* 609 chr6:32056802:G:A 12729_2539_847_R->* 609 chr6:32010130:G:A 12729_12214_4072_R->C 609 chr6:32016415:G:A 12729_9764_3255_T->I 609 chr6:32029183:C:T 12729_7483_2495_G->S 609 chr6:32041621:G:A 12729_4484_1495_T->I 609 chr6:32049196:C:T 12729_3991_1331_G->R 609 chr6:32052313:C:T 12729_3322_1108_V->M 609 chr6:32056580:A:C 12729_2761_921_S->A 609 chr6:32065113:C:T 12729_517_173_A->T 609 chr6:32065891:G:A 12729_85_29_R->W 609 oneKG Variants: 609 chr6:32030133:C:T 12729_6969_2323_W->* 0.000199681 609 chr6:32038139:C:T 12729_5043_1681_W->* 0.000199681 609 chr6:32039800:G:A 12729_4957_1653_R->* 0.000199681 609 chr6:32049181:G:A 12729_4006_1336_Q->* 0.000199681 609 chr6:32009149:G:A 12729_12706_4236_R->C 0.000399361 609 chr6:32009549:T:C 12729_12626_4209_Q->R 0.000798722 609 chr6:32009669:C:T 12729_12506_4169_R->H 0.00559105 609 chr6:32009839:G:A 12729_12413_4138_S->L 0.000399361 609 chr6:32010261:C:T 12729_12175_4059_D->N 0.000199681 609 chr6:32010272:T:A 12729_12164_4055_N->I 0.217053 609 chr6:32010288:G:A 12729_12148_4050_R->C 0.000199681 609 chr6:32010299:A:T 12729_12137_4046_L->H 0.000399361 609 chr6:32010351:C:T 12729_12085_4029_G->R 0.000199681 609 chr6:32010732:T:G 12729_11915_3972_N->T 0.346845 609 chr6:32011235:C:T 12729_11623_3875_V->I 0.486621 609 chr6:32011283:C:T 12729_11575_3859_A->T 0.00119808 609 chr6:32011316:G:T 12729_11542_3848_Q->K 0.105631 609 chr6:32011325:C:T 12729_11533_3845_G->S 0.00339457 609 chr6:32011541:C:G 12729_11509_3837_G->R 0.000199681 609 chr6:32011609:A:T 12729_11441_3814_I->N 0.000399361 609 chr6:32011634:G:C 12729_11416_3806_R->G 0.000199681 609 chr6:32011639:T:C 12729_11411_3804_Q->R 0.0061901 609 chr6:32011784:C:T 12729_11380_3794_G->R 0.000199681 609 chr6:32011825:C:A 12729_11339_3780_R->L 0.000798722 609 chr6:32011852:T:C 12729_11312_3771_K->R 0.000199681 609 chr6:32012816:G:A 12729_10888_3630_R->C 0.000199681 609 chr6:32012849:T:A 12729_10855_3619_R->W 0.000199681 609 chr6:32012897:C:T 12729_10807_3603_D->N 0.000798722 609 chr6:32012906:C:T 12729_10798_3600_V->M 0.00519169 609 chr6:32012951:C:T 12729_10753_3585_V->M 0.000199681 609 chr6:32012966:G:A 12729_10738_3580_P->S 0.000199681 609 chr6:32012992:C:T 12729_10712_3571_R->H 0.000199681 609 chr6:32012993:G:T 12729_10711_3571_R->S 0.000199681 609 chr6:32013010:G:C 12729_10694_3565_T->R 0.000199681 609 chr6:32013973:C:T 12729_10579_3527_V->I 0.000199681 609 chr6:32013975:G:A 12729_10577_3526_P->L 0.00559105 609 chr6:32014033:G:T 12729_10519_3507_P->T 0.000199681 609 chr6:32014050:G:T 12729_10502_3501_T->N 0.000599042 609 chr6:32014069:C:T 12729_10483_3495_A->T 0.000199681 609 chr6:32014077:G:T 12729_10475_3492_P->H 0.000199681 609 chr6:32014120:C:T 12729_10432_3478_V->M 0.000199681 609 chr6:32014231:G:T 12729_10321_3441_P->T 0.000199681 609 chr6:32015679:C:T 12729_10150_3384_V->M 0.000399361 609 chr6:32015684:G:C 12729_10145_3382_S->C 0.000599042 609 chr6:32015708:G:A 12729_10121_3374_T->M 0.000199681 609 chr6:32015724:C:T 12729_10105_3369_V->M 0.000599042 609 chr6:32015765:C:T 12729_10064_3355_R->H 0.000199681 609 chr6:32015775:G:A 12729_10054_3352_P->S 0.00579073 609 chr6:32016140:C:G,T 12729_10039_3347_A->P,2 0.000798722 609 chr6:32016140:C:G,T 12729_10039_3347_A->T 0.000798722 609 chr6:32016167:C:T 12729_10012_3338_G->S 0.00259585 609 chr6:32016173:G:A 12729_10006_3336_R->C 0.000199681 609 chr6:32016232:G:A 12729_9947_3316_S->L 0.000199681 609 chr6:32016239:C:T 12729_9940_3314_A->T 0.000399361 609 chr6:32016384:C:G 12729_9795_3265_E->D 0.000199681 609 chr6:32016394:C:T 12729_9785_3262_R->H 0.000199681 609 chr6:32016395:G:A 12729_9784_3262_R->C 0.000599042 609 chr6:32016406:G:A 12729_9773_3258_P->L 0.000399361 609 chr6:32017049:G:A 12729_9749_3250_T->M 0.00119808 609 chr6:32017068:C:T 12729_9730_3244_V->M 0.000199681 609 chr6:32017097:C:T 12729_9701_3234_G->D 0.000199681 609 chr6:32017143:C:T 12729_9655_3219_V->M 0.00938498 609 chr6:32017161:C:T 12729_9637_3213_E->K 0.0139776 609 chr6:32017163:C:A 12729_9635_3212_G->V 0.0291534 609 chr6:32017173:G:C 12729_9625_3209_R->G 0.0223642 609 chr6:32017233:C:T 12729_9565_3189_G->S 0.0061901 609 chr6:32017242:C:T 12729_9556_3186_V->I 0.0726837 609 chr6:32017278:C:T 12729_9520_3174_G->R 0.00259585 609 chr6:32017281:T:A 12729_9517_3173_T->S 0.000199681 609 chr6:32017316:G:C 12729_9482_3161_A->G 0.00139776 609 chr6:32017331:G:A 12729_9467_3156_T->I 0.000399361 609 chr6:32017337:G:A 12729_9461_3154_P->L 0.000199681 609 chr6:32017349:C:G 12729_9449_3150_S->T 0.000199681 609 chr6:32017900:C:T 12729_9308_3103_R->Q 0.000599042 609 chr6:32017915:T:C 12729_9293_3098_Q->R 0.000199681 609 chr6:32018003:C:T 12729_9205_3069_A->T 0.000199681 609 chr6:32018026:A:C 12729_9182_3061_L->R 0.000199681 609 chr6:32018042:G:T 12729_9166_3056_P->T 0.000199681 609 chr6:32018045:G:A 12729_9163_3055_P->S 0.000199681 609 chr6:32018051:G:C 12729_9157_3053_P->A 0.000199681 609 chr6:32018093:T:C 12729_9115_3039_K->E 0.000399361 609 chr6:32020477:C:T 12729_9079_3027_V->M 0.000199681 609 chr6:32020479:C:T 12729_9077_3026_R->H 0.000199681 609 chr6:32020512:T:C 12729_9044_3015_K->R 0.00658946 609 chr6:32020522:A:G 12729_9034_3012_C->R 0.00698882 609 chr6:32020552:C:T 12729_9004_3002_E->K 0.000199681 609 chr6:32020572:C:T 12729_8984_2995_R->H 0.000399361 609 chr6:32020590:C:T 12729_8966_2989_G->E 0.000199681 609 chr6:32020591:C:T 12729_8965_2989_G->R 0.000199681 609 chr6:32020608:T:G 12729_8948_2983_Q->P 0.000199681 609 chr6:32020629:C:T 12729_8927_2976_R->H 0.00379393 609 chr6:32020642:T:C 12729_8914_2972_I->V 0.000199681 609 chr6:32020701:A:G 12729_8855_2952_L->P 0.000199681 609 chr6:32020717:G:T 12729_8839_2947_P->T 0.00898562 609 chr6:32020722:G:C 12729_8834_2945_P->R 0.000399361 609 chr6:32021173:C:T 12729_8777_2926_G->E 0.000399361 609 chr6:32021195:C:T 12729_8755_2919_V->M 0.000599042 609 chr6:32021216:C:T 12729_8734_2912_G->S 0.000998403 609 chr6:32021276:C:T 12729_8674_2892_E->K 0.00539137 609 chr6:32021362:A:G 12729_8588_2863_M->T 0.013778 609 chr6:32021414:C:T 12729_8536_2846_G->R 0.0123802 609 chr6:32021420:G:A 12729_8530_2844_R->C 0.000199681 609 chr6:32023663:C:T 12729_8432_2811_R->Q 0.000199681 609 chr6:32023703:G:A 12729_8392_2798_R->C 0.000199681 609 chr6:32023715:G:C 12729_8380_2794_L->V 0.000199681 609 chr6:32023754:G:A 12729_8341_2781_R->C 0.000399361 609 chr6:32023757:T:C 12729_8338_2780_M->V 0.000199681 609 chr6:32023760:C:T 12729_8335_2779_V->M 0.000199681 609 chr6:32023765:G:A 12729_8330_2777_P->L 0.000199681 609 chr6:32023778:T:C 12729_8317_2773_R->G 0.000199681 609 chr6:32023806:G:A,C 12729_8289_2763_F->L 0.000599042 609 chr6:32023810:T:C 12729_8285_2762_H->R 0.000399361 609 chr6:32023885:G:A 12729_8210_2737_P->L 0.000798722 609 chr6:32023903:G:C 12729_8192_2731_P->R 0.0445288 609 chr6:32024369:C:A 12729_8137_2713_V->L 0.000199681 609 chr6:32024374:A:G 12729_8132_2711_I->T 0.00279553 609 chr6:32024384:T:C 12729_8122_2708_I->V 0.000199681 609 chr6:32024393:C:T 12729_8113_2705_V->M 0.000399361 609 chr6:32024395:C:T 12729_8111_2704_R->H 0.105431 609 chr6:32024431:T:G 12729_8075_2692_Y->S 0.000199681 609 chr6:32024474:C:T 12729_8032_2678_E->K 0.000199681 609 chr6:32024510:C:T 12729_7996_2666_D->N 0.000199681 609 chr6:32024552:C:T 12729_7954_2652_E->K 0.00179712 609 chr6:32024560:G:A 12729_7946_2649_T->M 0.000798722 609 chr6:32024600:T:C 12729_7906_2636_M->V 0.000199681 609 chr6:32024617:C:T 12729_7889_2630_R->H 0.000599042 609 chr6:32024650:G:A 12729_7856_2619_P->L 0.00119808 609 chr6:32025856:C:T 12729_7804_2602_V->M 0.000199681 609 chr6:32025858:G:A 12729_7802_2601_P->L 0.00179712 609 chr6:32025870:C:T 12729_7790_2597_R->Q 0.188498 609 chr6:32025910:G:A 12729_7750_2584_R->C 0.000399361 609 chr6:32025940:T:C 12729_7720_2574_K->E 0.00958466 609 chr6:32025942:C:T 12729_7718_2573_S->N 0.000399361 609 chr6:32025949:G:C 12729_7711_2571_Q->E 0.00958466 609 chr6:32025966:G:A 12729_7694_2565_A->V 0.000199681 609 chr6:32026030:C:T 12729_7630_2544_V->I 0.000199681 609 chr6:32026093:G:A 12729_7567_2523_P->S 0.000199681 609 chr6:32026107:C:T 12729_7553_2518_G->E 0.303914 609 chr6:32029180:C:T 12729_7486_2496_V->M 0.00119808 609 chr6:32029183:C:T 12729_7483_2495_G->S 0.167532 609 chr6:32029249:G:A 12729_7417_2473_R->C 0.00379393 609 chr6:32029285:C:T 12729_7381_2461_E->K 0.000199681 609 chr6:32029288:C:T 12729_7378_2460_E->K 0.000199681 609 chr6:32029314:C:T 12729_7352_2451_R->Q 0.00219649 609 chr6:32029318:C:T 12729_7348_2450_G->R 0.000399361 609 chr6:32029359:C:T 12729_7307_2436_G->D 0.000798722 609 chr6:32029360:C:T 12729_7306_2436_G->S 0.000199681 609 chr6:32029369:C:T 12729_7297_2433_V->I 0.00599042 609 chr6:32029431:G:A 12729_7235_2412_P->L 0.105232 609 chr6:32029966:C:T 12729_7136_2379_R->H 0.000399361 609 chr6:32030051:C:T 12729_7051_2351_G->R 0.00359425 609 chr6:32030059:C:T 12729_7043_2348_R->Q 0.000199681 609 chr6:32030129:C:T 12729_6973_2325_V->I 0.000599042 609 chr6:32030131:G:T 12729_6971_2324_T->K 0.00379393 609 chr6:32030189:G:A 12729_6913_2305_R->C 0.000199681 609 chr6:32030200:G:T 12729_6902_2301_P->H 0.013778 609 chr6:32032598:C:T 12729_6841_2281_A->T 0.000599042 609 chr6:32032628:C:G 12729_6811_2271_V->L 0.00858626 609 chr6:32032694:T:C 12729_6745_2249_I->V 0.000199681 609 chr6:32032724:G:A 12729_6715_2239_R->W 0.000399361 609 chr6:32032745:C:T 12729_6694_2232_D->N 0.000399361 609 chr6:32032756:A:T 12729_6683_2228_F->Y 0.0173722 609 chr6:32032764:C:G 12729_6675_2225_L->F 0.000199681 609 chr6:32032790:G:T 12729_6649_2217_P->T 0.000798722 609 chr6:32032831:C:T 12729_6608_2203_R->K 0.00419329 609 chr6:32032841:T:C 12729_6598_2200_M->V 0.000199681 609 chr6:32035474:G:A 12729_6508_2170_R->W 0.000599042 609 chr6:32035489:C:T 12729_6493_2165_G->S 0.000199681 609 chr6:32035513:G:A 12729_6469_2157_R->C 0.000199681 609 chr6:32035554:C:T 12729_6428_2143_G->D 0.000599042 609 chr6:32035603:C:T 12729_6379_2127_V->M 0.183706 609 chr6:32035621:G:A 12729_6361_2121_R->C 0.000199681 609 chr6:32035668:C:G 12729_6314_2105_G->A 0.000199681 609 chr6:32035695:G:A 12729_6287_2096_P->L 0.000199681 609 chr6:32036179:C:T 12729_6208_2070_V->I 0.000199681 609 chr6:32036210:G:C 12729_6177_2059_H->Q 0.000199681 609 chr6:32036449:C:T 12729_5938_1980_A->T 0.000599042 609 chr6:32036643:C:T 12729_5858_1953_S->N 0.000199681 609 chr6:32036668:A:G 12729_5833_1945_Y->H 0.000399361 609 chr6:32036755:T:C 12729_5746_1916_T->A 0.00519169 609 chr6:32036788:C:T 12729_5713_1905_E->K 0.0357428 609 chr6:32036793:A:G 12729_5708_1903_V->A 0.000199681 609 chr6:32036835:A:G 12729_5666_1889_V->A 0.000199681 609 chr6:32037360:C:T 12729_5557_1853_V->M 0.000199681 609 chr6:32037369:C:T 12729_5548_1850_G->S 0.00559105 609 chr6:32037426:C:T 12729_5491_1831_V->M 0.000399361 609 chr6:32037429:T:G 12729_5488_1830_S->R 0.000199681 609 chr6:32037453:C:T 12729_5464_1822_V->M 0.000199681 609 chr6:32037475:G:C 12729_5442_1814_D->E 0.00159744 609 chr6:32037501:A:G 12729_5416_1806_F->L 0.000399361 609 chr6:32037558:C:T 12729_5359_1787_V->M 0.000399361 609 chr6:32037916:C:T 12729_5266_1756_D->N 0.000399361 609 chr6:32038079:G:T 12729_5103_1701_F->L 0.000199681 609 chr6:32038129:G:A 12729_5053_1685_P->S 0.000199681 609 chr6:32038185:C:T 12729_4997_1666_R->Q 0.000399361 609 chr6:32039769:G:A 12729_4988_1663_T->M 0.000199681 609 chr6:32039872:C:T 12729_4885_1629_E->K 0.013778 609 chr6:32039890:C:T 12729_4867_1623_V->M 0.000199681 609 chr6:32039920:C:T 12729_4837_1613_D->N 0.000199681 609 chr6:32039944:C:T 12729_4813_1605_D->N 0.000199681 609 chr6:32039947:A:G 12729_4810_1604_F->L 0.000199681 609 chr6:32039995:T:C 12729_4762_1588_I->V 0.000798722 609 chr6:32041543:G:A 12729_4562_1521_A->V 0.00399361 609 chr6:32041621:G:A 12729_4484_1495_T->I 0.00539137 609 chr6:32041661:C:T 12729_4444_1482_V->M 0.000599042 609 chr6:32041673:C:T 12729_4432_1478_G->R 0.000199681 609 chr6:32046822:C:T 12729_4363_1455_V->M 0.000199681 609 chr6:32046831:C:G 12729_4354_1452_V->L 0.000199681 609 chr6:32046944:C:T 12729_4241_1414_R->Q 0.0449281 609 chr6:32046945:G:C 12729_4240_1414_R->G 0.000199681 609 chr6:32047005:C:T 12729_4180_1394_V->I 0.000199681 609 chr6:32047068:G:T 12729_4117_1373_P->T 0.000199681 609 chr6:32047122:C:T 12729_4063_1355_E->K 0.000199681 609 chr6:32049177:C:T 12729_4010_1337_R->H 0.000399361 609 chr6:32049189:C:T 12729_3998_1333_R->H 0.000199681 609 chr6:32049235:C:T 12729_3952_1318_G->S 0.000199681 609 chr6:32049247:C:A 12729_3940_1314_V->F 0.000399361 609 chr6:32049354:C:T 12729_3833_1278_R->H 0.000199681 609 chr6:32049423:C:T 12729_3764_1255_R->H 0.0988419 609 chr6:32049429:G:T 12729_3758_1253_P->H 0.00139776 609 chr6:32049441:C:T 12729_3746_1249_R->K 0.000199681 609 chr6:32049818:G:T 12729_3731_1244_T->N 0.000199681 609 chr6:32049827:G:A 12729_3722_1241_A->V 0.000199681 609 chr6:32049857:G:T 12729_3692_1231_A->E 0.000199681 609 chr6:32049895:G:T 12729_3654_1218_D->E 0.00159744 609 chr6:32050005:G:A 12729_3544_1182_P->S 0.000199681 609 chr6:32050061:C:T 12729_3488_1163_G->E 0.000998403 609 chr6:32050067:T:C 12729_3482_1161_H->R 0.413738 609 chr6:32052216:C:T 12729_3419_1140_G->D 0.00878594 609 chr6:32052255:T:C 12729_3380_1127_K->R 0.01877 609 chr6:32052313:C:T 12729_3322_1108_V->M 0.000399361 609 chr6:32052358:C:T 12729_3277_1093_V->M 0.000199681 609 chr6:32052363:G:T 12729_3272_1091_S->Y 0.00359425 609 chr6:32052393:C:T 12729_3242_1081_R->H 0.000199681 609 chr6:32052409:C:T 12729_3226_1076_D->N 0.000199681 609 chr6:32052423:G:C 12729_3212_1071_T->R 0.000399361 609 chr6:32052444:C:T 12729_3191_1064_R->H 0.00299521 609 chr6:32052451:G:A 12729_3184_1062_P->S 0.000199681 609 chr6:32053680:C:T 12729_2995_999_E->K 0.000599042 609 chr6:32053699:T:G 12729_2976_992_Q->H 0.000199681 609 chr6:32053728:C:T 12729_2947_983_A->T 0.00119808 609 chr6:32053730:G:A 12729_2945_982_T->I 0.000399361 609 chr6:32053748:C:T 12729_2927_976_R->H 0.000599042 609 chr6:32053772:A:G 12729_2903_968_V->A 0.000199681 609 chr6:32053793:T:C 12729_2882_961_Q->R 0.000599042 609 chr6:32053823:G:A 12729_2852_951_A->V 0.000399361 609 chr6:32056580:A:C 12729_2761_921_S->A 0.185304 609 chr6:32056601:G:A 12729_2740_914_R->W 0.000199681 609 chr6:32056625:C:A 12729_2716_906_V->L 0.00159744 609 chr6:32056663:G:A 12729_2678_893_T->M 0.000599042 609 chr6:32056679:G:C 12729_2662_888_P->A 0.000199681 609 chr6:32056708:C:T 12729_2633_878_G->D 0.000399361 609 chr6:32056709:C:T 12729_2632_878_G->S 0.000199681 609 chr6:32056718:C:T 12729_2623_875_V->I 0.000599042 609 chr6:32056756:C:T 12729_2585_862_R->H 0.000199681 609 chr6:32056757:G:A 12729_2584_862_R->C 0.000199681 609 chr6:32057002:G:A 12729_2513_838_T->I 0.000199681 609 chr6:32057030:C:T 12729_2485_829_G->S 0.000399361 609 chr6:32057050:G:T 12729_2465_822_A->D 0.000199681 609 chr6:32057126:G:A 12729_2389_797_R->W 0.000199681 609 chr6:32057149:C:T 12729_2366_789_G->E 0.000199681 609 chr6:32062885:C:T 12729_2326_776_V->M 0.000199681 609 chr6:32063460:G:A 12729_2170_724_R->C 0.000798722 609 chr6:32063547:G:A 12729_2083_695_R->W 0.000399361 609 chr6:32063600:T:C 12729_2030_677_D->G 0.00119808 609 chr6:32063655:G:A 12729_1975_659_R->C 0.000199681 609 chr6:32063665:G:C 12729_1965_655_D->E 0.000798722 609 chr6:32063681:C:T 12729_1949_650_R->H 0.0924521 609 chr6:32063703:T:C 12729_1927_643_T->A 0.000998403 609 chr6:32063765:G:C 12729_1865_622_P->R 0.000199681 609 chr6:32063769:A:T 12729_1861_621_C->S 0.000199681 609 chr6:32063793:T:C 12729_1837_613_S->G 0.0173722 609 chr6:32063991:C:T 12729_1639_547_A->T 0.000199681 609 chr6:32064047:C:T 12729_1583_528_C->Y 0.000199681 609 chr6:32064080:C:G 12729_1550_517_G->A 0.000199681 609 chr6:32064098:C:T 12729_1532_511_R->H 0.182708 609 chr6:32064161:C:T 12729_1469_490_R->Q 0.00579073 609 chr6:32064272:T:C 12729_1358_453_N->S 0.000199681 609 chr6:32064275:C:T 12729_1355_452_C->Y 0.000399361 609 chr6:32064294:C:G 12729_1336_446_E->Q 0.000199681 609 chr6:32064371:A:G 12729_1259_420_V->A 0.000998403 609 chr6:32064378:G:A 12729_1252_418_R->C 0.000199681 609 chr6:32064529:G:C 12729_1101_367_D->E 0.000199681 609 chr6:32064726:T:C 12729_904_302_T->A 0.01877 609 chr6:32064836:A:C 12729_794_265_V->G 0.000199681 609 chr6:32064917:C:T 12729_713_238_G->D 0.000199681 609 chr6:32064956:C:T 12729_674_225_R->H 0.000399361 609 chr6:32064999:G:A 12729_631_211_P->S 0.000599042 609 chr6:32065011:C:T 12729_619_207_G->S 0.000998403 609 chr6:32065023:C:T 12729_607_203_V->M 0.0802716 609 chr6:32065062:C:T 12729_568_190_D->N 0.000199681 609 chr6:32065113:C:T 12729_517_173_A->T 0.0421326 609 chr6:32065173:G:A 12729_457_153_R->C 0.000199681 609 chr6:32065659:C:A 12729_317_106_R->L 0.000199681 609 chr6:32065779:C:G 12729_197_66_G->A 0.000199681 609 chr6:32065828:C:A 12729_148_50_A->S 0.000199681 609 chr6:32065863:C:T 12729_113_38_R->Q 0.00579073 609 chr6:32065890:C:T 12729_86_29_R->Q 0.00698882 609 na12878 Variants: 609 chr6:32026107:C:T 12729_7553_2518_G->E 609 chr6:32050067:T:C 12729_3482_1161_H->R 609 chr6:32064726:T:C 12729_904_302_T->A 609 snyder Variants: 609 chr6:32026107:C:T 12729_7553_2518_G->E 609 chr6:32050067:T:C 12729_3482_1161_H->R 610 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000112164_ENST00000373256 gene_Name: GLP1R_HUMAN 610 list of pdbs: 610 3IOL pdb_description: 27-Oct-09 X-ray 2.100 Crystal structure of glucagon-like peptide-1 in complex with extracellular domain of the glucagon-like peptide-1 recepto 610 3C5T pdb_description: 19-Feb-08 X-ray 2.100 Crystal structure of the ligand-bound glucagon-like peptide- extracellular domain 610 3C59 pdb_description: 19-Feb-08 X-ray 2.300 Crystal structure of the ligand-bound glucagon-like peptide- extracellular domain 610 Zimmer Variants: 610 chr6:39041502:A:C 1392_780_260_L->F;GENE=GLP1R;CDSS=2 610 chr6:39016636:C:T 1392_20_7_P->L;GENE=GLP1R;CDSS=1 610 HGMD Variants: 610 chr6:39016636:C:T 1392_20_7_P->L 610 chr6:39016675:G:A 1392_59_20_R->K 610 chr6:39033595:G:A 1392_392_131_R->Q 610 chr6:39034016:C:T 1392_446_149_T->M 610 chr6:39034072:G:A 1392_502_168_G->S 610 chr6:39046146:A:G 1392_872_291_Y->C 610 chr6:39046794:G:A 1392_946_316_A->T 610 chr6:39046931:C:G 1392_998_333_S->C 610 chr6:39053719:G:A 1392_1262_421_R->Q 610 chr6:39053791:G:C 1392_1334_445_S->T 610 oneKG Variants: 610 chr6:39016630:C:T 1392_14_5_P->L 0.000199681 610 chr6:39016636:C:T 1392_20_7_P->L 0.186102 610 chr6:39016666:T:C 1392_50_17_M->T 0.000599042 610 chr6:39016675:G:A 1392_59_20_R->K 0.00219649 610 chr6:39024225:G:A 1392_131_44_R->H 0.0091853 610 chr6:39024237:G:A 1392_143_48_R->H 0.000599042 610 chr6:39033595:G:A 1392_392_131_R->Q 0.076877 610 chr6:39034072:G:A 1392_502_168_G->S 0.120807 610 chr6:39040708:G:A 1392_580_194_V->I 0.000998403 610 chr6:39041402:G:A 1392_680_227_R->H 0.000399361 610 chr6:39041437:G:A 1392_715_239_A->T 0.00139776 610 chr6:39041502:A:C 1392_780_260_L->F 0.421526 610 chr6:39041503:T:G 1392_781_261_S->A 0.000199681 610 chr6:39046740:A:G 1392_892_298_T->A 0.000399361 610 chr6:39046777:G:A 1392_929_310_R->Q 0.000199681 610 chr6:39046794:G:A 1392_946_316_A->T 0.00359425 610 chr6:39046965:C:A 1392_1032_344_D->E 0.000599042 610 chr6:39047419:G:A 1392_1123_375_A->T 0.000199681 610 chr6:39053719:G:A 1392_1262_421_R->Q 0.00738818 610 chr6:39053775:A:G 1392_1318_440_T->A 0.000599042 610 chr6:39053791:G:C 1392_1334_445_S->T 0.00319489 610 chr6:39053803:C:T 1392_1346_449_A->V 0.000199681 610 chr6:39053815:T:C 1392_1358_453_M->T 0.000199681 610 na12878 Variants: 610 chr6:39041502:A:C 1392_780_260_L->F 610 chr6:39016636:C:T 1392_20_7_P->L 610 chr6:39034072:G:A 1392_502_168_G->S 610 snyder Variants: 610 chr6:39041502:A:C 1392_780_260_L->F 610 chr6:39016636:C:T 1392_20_7_P->L 610 chr6:39034072:G:A 1392_502_168_G->S 611 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000146070_ENST00000274793 gene_Name: PAFA_HUMAN 611 list of pdbs: 611 3F9C pdb_description: 23-Jun-09 X-ray 2.300 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by diisopropylfluorophosphate 611 3F98 pdb_description: 23-Jun-09 X-ray 1.700 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by tabun 611 3F97 pdb_description: 23-Jun-09 X-ray 1.700 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by soman 611 3F96 pdb_description: 23-Jun-09 X-ray 2.100 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by sarin 611 3D5E pdb_description: 09-Sep-08 X-ray 2.100 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by paraoxon 611 3D59 pdb_description: 09-Sep-08 X-ray 1.500 Crystal structure of human plasma platelet activating factor acetylhydrolase 611 Zimmer Variants: 611 chr6:46672943:A:G 1326_1136_379_V->A 611 HGMD Variants: 611 chr6:46677074:G:A 1326_859_287_Q->* 611 chr6:46678290:G:A 1326_769_257_Q->* 611 chr6:46682265:C:T 1326_402_134_W->* 611 chr6:46684830:C:T 1326_113_38_W->* 611 chr6:46672913:A:G 1326_1166_389_L->S 611 chr6:46672943:A:G 1326_1136_379_V->A 611 chr6:46675818:A:T 1326_950_317_I->N 611 chr6:46677085:A:G 1326_848_283_L->P 611 chr6:46677091:T:C 1326_842_281_Q->R 611 chr6:46677098:C:A 1326_835_279_V->F 611 chr6:46677115:G:A 1326_818_273_S->F 611 chr6:46679303:A:G 1326_593_198_I->T 611 chr6:46679354:T:C 1326_542_181_D->G 611 chr6:46684169:A:G 1326_328_110_F->L 611 chr6:46684222:C:T 1326_275_92_R->H 611 chr6:46684252:C:T 1326_245_82_R->H 611 chr6:46684737:T:C 1326_206_69_D->G 611 chr6:46684792:A:T 1326_151_51_F->I 611 oneKG Variants: 611 chr6:46679287:C:T 1326_609_203_W->* 0.000199681 611 chr6:46684206:C:T 1326_291_97_W->* 0.000199681 611 chr6:46672346:T:C 1326_1277_426_N->S 0.00119808 611 chr6:46672381:C:A 1326_1242_414_E->D 0.000998403 611 chr6:46672394:T:C 1326_1229_410_E->G 0.000199681 611 chr6:46672418:A:C 1326_1205_402_F->C 0.000199681 611 chr6:46672427:T:C 1326_1196_399_H->R 0.000199681 611 chr6:46672913:A:G 1326_1166_389_L->S 0.00299521 611 chr6:46672943:A:G 1326_1136_379_V->A 0.189696 611 chr6:46672955:A:C 1326_1124_375_I->R 0.000199681 611 chr6:46673012:T:C 1326_1067_356_D->G 0.000399361 611 chr6:46675759:G:A 1326_1009_337_P->S 0.000199681 611 chr6:46675766:G:C 1326_1002_334_C->W 0.000199681 611 chr6:46675778:T:A 1326_990_330_K->N 0.000199681 611 chr6:46675791:G:T 1326_977_326_A->D 0.000199681 611 chr6:46675818:A:T 1326_950_317_I->N 0.000599042 611 chr6:46675855:C:T 1326_913_305_E->K 0.00319489 611 chr6:46675861:C:A 1326_907_303_G->C 0.000199681 611 chr6:46677085:A:G 1326_848_283_L->P 0.000199681 611 chr6:46677098:C:A 1326_835_279_V->F 0.0165735 611 chr6:46677100:G:A 1326_833_278_T->M 0.000399361 611 chr6:46677103:G:C 1326_830_277_A->G 0.000798722 611 chr6:46678313:A:G 1326_746_249_L->S 0.000199681 611 chr6:46678392:G:A 1326_667_223_R->W 0.000599042 611 chr6:46679262:C:T 1326_634_212_E->K 0.000199681 611 chr6:46679303:A:G 1326_593_198_I->T 0.133187 611 chr6:46679315:G:A 1326_581_194_S->F 0.000199681 611 chr6:46679323:C:G 1326_573_191_K->N 0.00658946 611 chr6:46679351:C:A 1326_545_182_R->I 0.00459265 611 chr6:46680070:G:T 1326_475_159_L->I 0.000199681 611 chr6:46684151:G:A 1326_346_116_L->F 0.000399361 611 chr6:46684169:A:G 1326_328_110_F->L 0.000599042 611 chr6:46684222:C:T 1326_275_92_R->H 0.317492 611 chr6:46684223:G:A 1326_274_92_R->C 0.000399361 611 chr6:46684252:C:T 1326_245_82_R->H 0.000199681 611 chr6:46684253:G:A 1326_244_82_R->C 0.000199681 611 chr6:46684740:G:C 1326_203_68_T->R 0.000599042 611 chr6:46684749:A:G 1326_194_65_V->A 0.000199681 611 chr6:46684770:C:T 1326_173_58_R->Q 0.000199681 611 chr6:46684792:A:T 1326_151_51_F->I 0.000199681 611 chr6:46684794:C:T 1326_149_50_S->N 0.000599042 611 chr6:46684806:A:T 1326_137_46_M->K 0.000599042 611 chr6:46684809:A:G 1326_134_45_L->P 0.000199681 611 chr6:46684817:T:C 1326_126_42_I->M 0.000199681 611 na12878 Variants: 611 chr6:46672943:A:G 1326_1136_379_V->A 611 chr6:46679303:A:G 1326_593_198_I->T 611 snyder Variants: 611 chr6:46672943:A:G 1326_1136_379_V->A 611 chr6:46684222:C:T 1326_275_92_R->H 612 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000146070_ENST00000537365 gene_Name: PAFA_HUMAN 612 list of pdbs: 612 3F9C pdb_description: 23-Jun-09 X-ray 2.300 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by diisopropylfluorophosphate 612 3F98 pdb_description: 23-Jun-09 X-ray 1.700 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by tabun 612 3F97 pdb_description: 23-Jun-09 X-ray 1.700 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by soman 612 3F96 pdb_description: 23-Jun-09 X-ray 2.100 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by sarin 612 3D5E pdb_description: 09-Sep-08 X-ray 2.100 Crystal structure of human plasma platelet activating factor acetylhydrolase covalently inhibited by paraoxon 612 3D59 pdb_description: 09-Sep-08 X-ray 1.500 Crystal structure of human plasma platelet activating factor acetylhydrolase 612 Zimmer Variants: 612 chr6:46672943:A:G 1326_1136_379_V->A;GENE=PLA2G7;CDSS=2 612 HGMD Variants: 612 chr6:46677074:G:A 1326_859_287_Q->* 612 chr6:46678290:G:A 1326_769_257_Q->* 612 chr6:46682265:C:T 1326_402_134_W->* 612 chr6:46684830:C:T 1326_113_38_W->* 612 chr6:46672913:A:G 1326_1166_389_L->S 612 chr6:46672943:A:G 1326_1136_379_V->A 612 chr6:46675818:A:T 1326_950_317_I->N 612 chr6:46677085:A:G 1326_848_283_L->P 612 chr6:46677091:T:C 1326_842_281_Q->R 612 chr6:46677098:C:A 1326_835_279_V->F 612 chr6:46677115:G:A 1326_818_273_S->F 612 chr6:46679303:A:G 1326_593_198_I->T 612 chr6:46679354:T:C 1326_542_181_D->G 612 chr6:46684169:A:G 1326_328_110_F->L 612 chr6:46684222:C:T 1326_275_92_R->H 612 chr6:46684252:C:T 1326_245_82_R->H 612 chr6:46684737:T:C 1326_206_69_D->G 612 chr6:46684792:A:T 1326_151_51_F->I 612 oneKG Variants: 612 chr6:46679287:C:T 1326_609_203_W->* 0.000199681 612 chr6:46684206:C:T 1326_291_97_W->* 0.000199681 612 chr6:46672346:T:C 1326_1277_426_N->S 0.00119808 612 chr6:46672381:C:A 1326_1242_414_E->D 0.000998403 612 chr6:46672394:T:C 1326_1229_410_E->G 0.000199681 612 chr6:46672418:A:C 1326_1205_402_F->C 0.000199681 612 chr6:46672427:T:C 1326_1196_399_H->R 0.000199681 612 chr6:46672913:A:G 1326_1166_389_L->S 0.00299521 612 chr6:46672943:A:G 1326_1136_379_V->A 0.189696 612 chr6:46672955:A:C 1326_1124_375_I->R 0.000199681 612 chr6:46673012:T:C 1326_1067_356_D->G 0.000399361 612 chr6:46675759:G:A 1326_1009_337_P->S 0.000199681 612 chr6:46675766:G:C 1326_1002_334_C->W 0.000199681 612 chr6:46675778:T:A 1326_990_330_K->N 0.000199681 612 chr6:46675791:G:T 1326_977_326_A->D 0.000199681 612 chr6:46675818:A:T 1326_950_317_I->N 0.000599042 612 chr6:46675855:C:T 1326_913_305_E->K 0.00319489 612 chr6:46675861:C:A 1326_907_303_G->C 0.000199681 612 chr6:46677085:A:G 1326_848_283_L->P 0.000199681 612 chr6:46677098:C:A 1326_835_279_V->F 0.0165735 612 chr6:46677100:G:A 1326_833_278_T->M 0.000399361 612 chr6:46677103:G:C 1326_830_277_A->G 0.000798722 612 chr6:46678313:A:G 1326_746_249_L->S 0.000199681 612 chr6:46678392:G:A 1326_667_223_R->W 0.000599042 612 chr6:46679262:C:T 1326_634_212_E->K 0.000199681 612 chr6:46679303:A:G 1326_593_198_I->T 0.133187 612 chr6:46679315:G:A 1326_581_194_S->F 0.000199681 612 chr6:46679323:C:G 1326_573_191_K->N 0.00658946 612 chr6:46679351:C:A 1326_545_182_R->I 0.00459265 612 chr6:46680070:G:T 1326_475_159_L->I 0.000199681 612 chr6:46684151:G:A 1326_346_116_L->F 0.000399361 612 chr6:46684169:A:G 1326_328_110_F->L 0.000599042 612 chr6:46684222:C:T 1326_275_92_R->H 0.317492 612 chr6:46684223:G:A 1326_274_92_R->C 0.000399361 612 chr6:46684252:C:T 1326_245_82_R->H 0.000199681 612 chr6:46684253:G:A 1326_244_82_R->C 0.000199681 612 chr6:46684740:G:C 1326_203_68_T->R 0.000599042 612 chr6:46684749:A:G 1326_194_65_V->A 0.000199681 612 chr6:46684770:C:T 1326_173_58_R->Q 0.000199681 612 chr6:46684792:A:T 1326_151_51_F->I 0.000199681 612 chr6:46684794:C:T 1326_149_50_S->N 0.000599042 612 chr6:46684806:A:T 1326_137_46_M->K 0.000599042 612 chr6:46684809:A:G 1326_134_45_L->P 0.000199681 612 chr6:46684817:T:C 1326_126_42_I->M 0.000199681 612 na12878 Variants: 612 chr6:46672943:A:G 1326_1136_379_V->A 612 chr6:46679303:A:G 1326_593_198_I->T 612 snyder Variants: 612 chr6:46672943:A:G 1326_1136_379_V->A 612 chr6:46684222:C:T 1326_275_92_R->H 613 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124491_ENST00000264870 gene_Name: F13A_HUMAN 613 list of pdbs: 613 1QRK pdb_description: 02-Jul-99 X-ray 2.500 Human factor xiii with strontium bound in the ion site 613 1GGY pdb_description: 16-Feb-99 X-ray 2.500 Human factor xiii with ytterbium bound in the ion site 613 1GGU pdb_description: 16-Sep-99 X-ray 2.100 Human factor xiii with calcium bound in the ion site 613 1GGT pdb_description: 31-Jul-95 X-ray 2.650 Three-dimensional structure of a transglutaminase: human blood coagulation factor xiii 613 1FIE pdb_description: 12-Feb-97 X-ray 2.500 Recombinant human coagulation factor xiii 613 1F13 pdb_description: 12-Aug-98 X-ray 2.100 Recombinant human cellular coagulation factor xiii 613 1EX0 pdb_description: 23-Dec-03 X-ray 2.000 Human factor xiii, mutant w279f zymogen 613 1EVU pdb_description: 10-May-00 X-ray 2.010 Human factor xiii with calcium bound in the ion site 613 Zimmer Variants: 613 chr6:6152137:C:G 2199_1954_652_E->Q;GENE=F13A1;CDSS=2 613 chr6:6174866:G:A 2199_1694_565_P->L;GENE=F13A1;CDSS=2 613 chr6:6318795:C:A 2199_103_35_V->L;GENE=F13A1;CDSS=1 613 HGMD Variants: 613 chr6:6145976:C:T 2199_2075_692_W->* 613 chr6:6152097:C:T 2199_1994_665_W->* 613 chr6:6152107:G:A 2199_1984_662_R->* 613 chr6:6182354:G:T 2199_1326_442_Y->* 613 chr6:6197471:G:A 2199_1201_401_Q->* 613 chr6:6197501:C:A 2199_1171_391_G->* 613 chr6:6222399:G:A 2199_979_327_R->* 613 chr6:6251119:A:T 2199_615_205_Y->* 613 chr6:6266795:A:T 2199_567_189_C->* 613 chr6:6266799:C:T 2199_563_188_W->* 613 chr6:6266839:G:A 2199_523_175_R->* 613 chr6:6266848:G:A 2199_514_172_R->* 613 chr6:6305647:G:A 2199_256_86_Q->* 613 chr6:6305693:A:C 2199_210_70_Y->* 613 chr6:6145901:T:C 2199_2150_717_H->R 613 chr6:6145905:T:C 2199_2146_716_R->G 613 chr6:6145924:G:C 2199_2127_709_S->R 613 chr6:6145925:C:T 2199_2126_709_S->N 613 chr6:6145940:C:T 2199_2111_704_R->Q 613 chr6:6145941:G:A 2199_2110_704_R->W 613 chr6:6152046:C:T 2199_2045_682_R->H 613 chr6:6152085:T:C 2199_2006_669_D->G 613 chr6:6152088:A:G 2199_2003_668_L->P 613 chr6:6152109:A:G 2199_1982_661_L->P 613 chr6:6167764:C:T 2199_1835_612_R->H 613 chr6:6167785:A:G 2199_1814_605_L->P 613 chr6:6167795:G:T 2199_1804_602_Q->K 613 chr6:6167822:C:T 2199_1777_593_G->S 613 chr6:6174830:G:A 2199_1730_577_T->M 613 chr6:6174866:G:A 2199_1694_565_P->L 613 chr6:6174873:C:T 2199_1687_563_G->R 613 chr6:6174934:G:T 2199_1626_542_N->K 613 chr6:6174934:G:C 2199_1626_542_N->K 613 chr6:6174938:C:T 2199_1622_541_R->Q 613 chr6:6174971:A:G 2199_1589_530_L->P 613 chr6:6175056:C:T 2199_1504_502_G->R 613 chr6:6175064:A:G 2199_1496_499_L->P 613 chr6:6182331:G:A 2199_1349_450_T->I 613 chr6:6196053:C:T 2199_1282_428_D->N 613 chr6:6196074:C:T 2199_1261_421_G->S 613 chr6:6196088:T:C 2199_1247_416_Q->R 613 chr6:6196092:C:A 2199_1243_415_V->F 613 chr6:6196094:G:C 2199_1241_414_S->W 613 chr6:6196094:G:A 2199_1241_414_S->L 613 chr6:6196109:C:T 2199_1226_409_R->Q 613 chr6:6197476:G:T 2199_1196_399_T->N 613 chr6:6197488:G:A 2199_1184_395_A->V 613 chr6:6197523:C:A 2199_1149_383_R->S 613 chr6:6197537:C:G 2199_1135_379_A->P 613 chr6:6197544:C:A 2199_1128_376_W->C 613 chr6:6197546:A:G 2199_1126_376_W->R 613 chr6:6222267:A:C 2199_1111_371_W->G 613 chr6:6222314:A:G 2199_1064_355_L->P 613 chr6:6222338:G:T 2199_1040_347_A->D 613 chr6:6222349:A:T 2199_1029_343_H->Q 613 chr6:6222351:G:A 2199_1027_343_H->Y 613 chr6:6222398:C:T 2199_980_327_R->Q 613 chr6:6224936:G:A 2199_956_319_A->V 613 chr6:6224943:C:A 2199_949_317_V->F 613 chr6:6224963:A:C 2199_929_310_V->G 613 chr6:6225004:G:C 2199_888_296_S->R 613 chr6:6225023:G:C 2199_869_290_P->R 613 chr6:6225041:T:C 2199_851_284_Y->C 613 chr6:6225071:C:A 2199_821_274_G->V 613 chr6:6248552:G:A 2199_791_264_S->F 613 chr6:6248553:A:G 2199_790_264_S->P 613 chr6:6248555:C:T 2199_788_263_G->E 613 chr6:6248561:C:T 2199_782_261_R->H 613 chr6:6248561:C:A 2199_782_261_R->L 613 chr6:6248562:G:A 2199_781_261_R->C 613 chr6:6248571:T:C 2199_772_258_K->E 613 chr6:6248585:C:A 2199_758_253_R->I 613 chr6:6248594:A:G 2199_749_250_L->P 613 chr6:6248611:G:T 2199_732_244_D->E 613 chr6:6248615:A:G 2199_728_243_M->T 613 chr6:6248636:A:C 2199_707_236_L->R 613 chr6:6251045:T:C 2199_689_230_Q->R 613 chr6:6251088:C:T 2199_646_216_G->R 613 chr6:6251103:C:T 2199_631_211_G->R 613 chr6:6251120:T:A 2199_614_205_Y->F 613 chr6:6266800:A:G 2199_562_188_W->R 613 chr6:6266802:G:A 2199_560_187_P->L 613 chr6:6266847:C:T 2199_515_172_R->Q 613 chr6:6266859:T:C 2199_503_168_Y->C 613 chr6:6266862:G:A 2199_500_167_P->L 613 chr6:6266883:A:C 2199_479_160_M->R 613 chr6:6305584:C:A 2199_319_107_G->C 613 chr6:6305596:C:T 2199_307_103_E->K 613 chr6:6305670:C:T 2199_233_78_R->H 613 chr6:6305671:G:A 2199_232_78_R->C 613 chr6:6305710:G:A 2199_193_65_H->Y 613 chr6:6305720:G:T 2199_183_61_N->K 613 chr6:6318785:C:T 2199_113_38_R->Q 613 chr6:6318795:C:A 2199_103_35_V->L 613 chr6:6318840:A:G 2199_58_20_S->P 613 oneKG Variants: 613 chr6:6145997:C:T 2199_2054_685_R->Q 0.000798722 613 chr6:6152060:C:T 2199_2031_677_M->I 0.000399361 613 chr6:6152089:G:C 2199_2002_668_L->V 0.000199681 613 chr6:6152137:C:G 2199_1954_652_E->Q 0.19389 613 chr6:6152140:C:T 2199_1951_651_V->I 0.0722843 613 chr6:6152179:G:A 2199_1912_638_R->C 0.000199681 613 chr6:6167720:C:T 2199_1879_627_V->M 0.000199681 613 chr6:6167764:C:T 2199_1835_612_R->H 0.000199681 613 chr6:6167819:C:T 2199_1780_594_E->K 0.000199681 613 chr6:6167822:C:T 2199_1777_593_G->S 0.000998403 613 chr6:6167833:A:T 2199_1766_589_L->Q 0.00119808 613 chr6:6174830:G:A 2199_1730_577_T->M 0.000998403 613 chr6:6174866:G:A 2199_1694_565_P->L 0.240415 613 chr6:6174896:G:A 2199_1664_555_S->L 0.000199681 613 chr6:6174908:G:A 2199_1652_551_T->I 0.00119808 613 chr6:6174999:T:G 2199_1561_521_M->L 0.000199681 613 chr6:6175053:C:T 2199_1507_503_A->T 0.000199681 613 chr6:6196098:C:T 2199_1237_413_A->T 0.000199681 613 chr6:6196109:C:T 2199_1226_409_R->Q 0.000199681 613 chr6:6197488:G:A 2199_1184_395_A->V 0.00359425 613 chr6:6224981:C:T 2199_911_304_R->Q 0.000199681 613 chr6:6225003:C:T 2199_889_297_V->I 0.000199681 613 chr6:6225005:C:T 2199_887_296_S->N 0.000199681 613 chr6:6225027:G:T 2199_865_289_P->T 0.000199681 613 chr6:6225093:C:T 2199_799_267_V->M 0.000399361 613 chr6:6248570:T:C 2199_773_258_K->R 0.000199681 613 chr6:6248600:A:G 2199_743_248_M->T 0.000199681 613 chr6:6251120:T:A 2199_614_205_Y->F 0.0081869 613 chr6:6251131:T:A 2199_603_201_E->D 0.000199681 613 chr6:6266838:C:T 2199_524_175_R->Q 0.000199681 613 chr6:6266854:C:T 2199_508_170_V->I 0.000199681 613 chr6:6266901:A:G 2199_461_154_I->T 0.000199681 613 chr6:6266931:C:T 2199_431_144_R->Q 0.000199681 613 chr6:6266949:C:T 2199_413_138_R->K 0.000199681 613 chr6:6266965:C:A 2199_397_133_A->S 0.000599042 613 chr6:6305743:A:T 2199_160_54_F->I 0.00119808 613 chr6:6305757:G:A 2199_146_49_T->M 0.000399361 613 chr6:6318794:A:G 2199_104_35_V->A 0.000199681 613 chr6:6318795:C:A 2199_103_35_V->L 0.147764 613 chr6:6318876:C:T 2199_22_8_A->T 0.000199681 613 chr6:6318894:A:C 2199_4_2_S->A 0.000199681 613 na12878 Variants: 613 chr6:6152137:C:G 2199_1954_652_E->Q 613 chr6:6174866:G:A 2199_1694_565_P->L 613 chr6:6318795:C:A 2199_103_35_V->L 613 snyder Variants: 613 chr6:6152137:C:G 2199_1954_652_E->Q 614 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000146247_ENST00000275034 gene_Name: PHIP_HUMAN 614 list of pdbs: 614 3MB3 pdb_description: 14-Apr-10 X-ray 2.250 Crystal structure of the second bromodomain of pleckstrin ho domain interacting protein (phip) 614 Zimmer Variants: 614 chr6:79675701:A:G 5466_3278_1093_L->P;GENE=PHIP;CDSS=2;DBRECUR=PHIP 614 chr6:79708000:A:C 5466_1988_663_V->G;GENE=PHIP;CDSS=1;DBRECUR=PHIP 614 HGMD Variants: 614 chr6:79672902:A:C 5466_3447_1149_Y->* 614 oneKG Variants: 614 chr6:79680593:G:A 5466_2902_968_R->* 0.000199681 614 chr6:79650578:C:T 5466_5298_1766_M->I 0.000199681 614 chr6:79650613:C:G 5466_5263_1755_E->Q 0.000399361 614 chr6:79651027:G:A 5466_4849_1617_L->F 0.000199681 614 chr6:79655718:T:C 5466_4630_1544_I->V 0.000199681 614 chr6:79655763:T:G 5466_4585_1529_T->P 0.000399361 614 chr6:79655819:C:T 5466_4529_1510_R->Q 0.000199681 614 chr6:79655862:C:T 5466_4486_1496_G->S 0.000199681 614 chr6:79655891:G:A 5466_4457_1486_P->L 0.000199681 614 chr6:79665367:T:C 5466_3815_1272_Y->C 0.000399361 614 chr6:79671521:G:A 5466_3542_1181_A->V 0.000199681 614 chr6:79671522:C:A 5466_3541_1181_A->S 0.000199681 614 chr6:79672857:T:G 5466_3492_1164_E->D 0.000199681 614 chr6:79672862:C:T 5466_3487_1163_E->K 0.000199681 614 chr6:79672903:T:C 5466_3446_1149_Y->C 0.000199681 614 chr6:79675701:A:G 5466_3278_1093_L->P 0.216853 614 chr6:79692751:G:A 5466_2621_874_T->I 0.0754792 614 chr6:79707192:G:A 5466_2140_714_R->W 0.000199681 614 chr6:79707292:C:G 5466_2040_680_E->D 0.000199681 614 chr6:79708000:A:C 5466_1988_663_V->G 0.056909 614 chr6:79711628:C:G 5466_1867_623_V->L 0.000199681 614 chr6:79711784:T:C 5466_1711_571_N->D 0.000199681 614 chr6:79725423:G:T 5466_1313_438_T->K 0.000199681 614 chr6:79726282:T:C 5466_1214_405_D->G 0.000199681 614 chr6:79726328:G:A 5466_1168_390_R->C 0.000199681 614 chr6:79752720:G:C 5466_440_147_A->G 0.000199681 614 na12878 Variants: 614 chr6:79692751:G:A 5466_2621_874_T->I 614 chr6:79708000:A:C 5466_1988_663_V->G 614 snyder Variants: 614 chr6:79692751:G:A 5466_2621_874_T->I 614 chr6:79708000:A:C 5466_1988_663_V->G 615 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000002726_ENST00000493429 gene_Name: AOC1_HUMAN 615 list of pdbs: 615 3MPH pdb_description: 08-Sep-10 X-ray 2.050 The structure of human diamine oxidase complexed with an inh aminoguanidine 615 3K5T pdb_description: 09-Feb-10 X-ray 2.110 Crystal structure of human diamine oxidase in space group c2 615 3HII pdb_description: 20-Oct-09 X-ray 2.150 Crystal structure of human diamine oxidase in complex with t inhibitor pentamidine 615 3HIG pdb_description: 20-Oct-09 X-ray 2.090 Crystal structure of human diamine oxidase in complex with t inhibitor berenil 615 3HI7 pdb_description: 20-Oct-09 X-ray 1.800 Crystal structure of human diamine oxidase 615 Zimmer Variants: 615 chr7:150556055:C:G 2256_1775_592_T->R;GENE=AOC1;CDSS=2 615 chr7:150557665:C:G 2256_1933_645_H->D;GENE=AOC1;CDSS=2 615 chr7:150553605:C:T 2256_47_16_T->M;GENE=AOC1;CDSS=1 615 HGMD Variants: 615 chr7:150554592:G:C 2256_1034_345_R->P 615 chr7:150557665:C:G 2256_1933_645_H->D 615 oneKG Variants: 615 chr7:150553586:G:A 2256_28_10_A->T 0.000399361 615 chr7:150553605:C:T 2256_47_16_T->M 0.312899 615 chr7:150553616:G:A 2256_58_20_E->K 0.000199681 615 chr7:150553842:G:A 2256_284_95_R->Q 0.000199681 615 chr7:150553850:C:T 2256_292_98_R->C 0.000199681 615 chr7:150553851:G:A 2256_293_98_R->H 0.000998403 615 chr7:150553856:G:A 2256_298_100_V->I 0.000199681 615 chr7:150553888:T:A 2256_330_110_N->K 0.000199681 615 chr7:150553974:C:A 2256_416_139_A->E 0.00239617 615 chr7:150554112:C:G 2256_554_185_T->S 0.00219649 615 chr7:150554114:G:A 2256_556_186_D->N 0.000199681 615 chr7:150554147:C:T 2256_589_197_R->C 0.000399361 615 chr7:150554151:G:A 2256_593_198_R->H 0.00199681 615 chr7:150554171:C:T 2256_613_205_R->C 0.000199681 615 chr7:150554233:C:A 2256_675_225_S->R 0.000199681 615 chr7:150554255:G:A 2256_697_233_V->M 0.000998403 615 chr7:150554261:C:G 2256_703_235_Q->E 0.00998403 615 chr7:150554310:G:A 2256_752_251_R->Q 0.000199681 615 chr7:150554394:C:T 2256_836_279_P->L 0.000399361 615 chr7:150554421:G:A 2256_863_288_R->H 0.000199681 615 chr7:150554459:C:T 2256_901_301_R->C 0.000199681 615 chr7:150554476:C:G 2256_918_306_H->Q 0.00139776 615 chr7:150554502:A:T 2256_944_315_N->I 0.000399361 615 chr7:150554508:T:C 2256_950_317_V->A 0.000199681 615 chr7:150554516:G:A 2256_958_320_G->S 0.000399361 615 chr7:150554529:T:A 2256_971_324_F->Y 0.000599042 615 chr7:150554534:T:G 2256_976_326_F->V 0.000199681 615 chr7:150554538:G:A 2256_980_327_R->Q 0.000199681 615 chr7:150554553:C:T 2256_995_332_S->F 0.053115 615 chr7:150554657:A:T 2256_1099_367_M->L 0.000199681 615 chr7:150554675:G:A 2256_1117_373_D->N 0.000199681 615 chr7:150554678:G:A 2256_1120_374_V->I 0.000199681 615 chr7:150554681:G:A 2256_1123_375_G->S 0.000199681 615 chr7:150554706:A:G 2256_1148_383_H->R 0.000199681 615 chr7:150554771:G:A 2256_1213_405_D->N 0.000199681 615 chr7:150554782:C:G 2256_1224_408_D->E 0.000199681 615 chr7:150554840:C:G 2256_1282_428_R->G 0.000199681 615 chr7:150554879:T:C 2256_1321_441_F->L 0.000399361 615 chr7:150554898:G:T 2256_1340_447_G->V 0.000199681 615 chr7:150554937:A:G 2256_1379_460_N->S 0.000199681 615 chr7:150554995:G:A 2256_1437_479_M->I 0.000998403 615 chr7:150555044:C:T 2256_1486_496_R->C 0.000199681 615 chr7:150555056:C:T 2256_1498_500_R->C 0.000199681 615 chr7:150555950:C:T 2256_1670_557_T->M 0.000199681 615 chr7:150555967:C:T 2256_1687_563_R->C 0.000599042 615 chr7:150555982:C:T 2256_1702_568_R->C 0.000199681 615 chr7:150556055:C:G 2256_1775_592_T->R 0.0 615 chr7:150556061:G:A 2256_1781_594_R->H 0.000199681 615 chr7:150557589:G:T 2256_1857_619_R->S 0.000199681 615 chr7:150557665:C:G 2256_1933_645_H->D 0.453275 615 chr7:150557704:G:A 2256_1972_658_E->K 0.000399361 615 chr7:150557707:A:C 2256_1975_659_N->H 0.00539137 615 chr7:150558093:C:A 2256_2052_684_N->K 0.000199681 615 chr7:150558111:C:G 2256_2070_690_N->K 0.000199681 615 chr7:150558197:G:A 2256_2156_719_R->Q 0.000399361 615 chr7:150558240:C:G 2256_2199_733_D->E 0.000798722 615 na12878 Variants: 615 chr7:150556055:C:G 2256_1775_592_T->R 615 snyder Variants: 615 chr7:150556055:C:G 2256_1775_592_T->R 615 chr7:150553605:C:T 2256_47_16_T->M 616 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000002726_ENST00000467291 gene_Name: AOC1_HUMAN 616 list of pdbs: 616 3MPH pdb_description: 08-Sep-10 X-ray 2.050 The structure of human diamine oxidase complexed with an inh aminoguanidine 616 3K5T pdb_description: 09-Feb-10 X-ray 2.110 Crystal structure of human diamine oxidase in space group c2 616 3HII pdb_description: 20-Oct-09 X-ray 2.150 Crystal structure of human diamine oxidase in complex with t inhibitor pentamidine 616 3HIG pdb_description: 20-Oct-09 X-ray 2.090 Crystal structure of human diamine oxidase in complex with t inhibitor berenil 616 3HI7 pdb_description: 20-Oct-09 X-ray 1.800 Crystal structure of human diamine oxidase 616 Zimmer Variants: 616 chr7:150556055:C:G 2256_1775_592_T->R 616 chr7:150557665:C:G 2256_1933_645_H->D 616 chr7:150553605:C:T 2256_47_16_T->M 616 HGMD Variants: 616 chr7:150554592:G:C 2256_1034_345_R->P 616 chr7:150557665:C:G 2256_1933_645_H->D 616 oneKG Variants: 616 chr7:150553586:G:A 2256_28_10_A->T 0.000399361 616 chr7:150553605:C:T 2256_47_16_T->M 0.312899 616 chr7:150553616:G:A 2256_58_20_E->K 0.000199681 616 chr7:150553842:G:A 2256_284_95_R->Q 0.000199681 616 chr7:150553850:C:T 2256_292_98_R->C 0.000199681 616 chr7:150553851:G:A 2256_293_98_R->H 0.000998403 616 chr7:150553856:G:A 2256_298_100_V->I 0.000199681 616 chr7:150553888:T:A 2256_330_110_N->K 0.000199681 616 chr7:150553974:C:A 2256_416_139_A->E 0.00239617 616 chr7:150554112:C:G 2256_554_185_T->S 0.00219649 616 chr7:150554114:G:A 2256_556_186_D->N 0.000199681 616 chr7:150554147:C:T 2256_589_197_R->C 0.000399361 616 chr7:150554151:G:A 2256_593_198_R->H 0.00199681 616 chr7:150554171:C:T 2256_613_205_R->C 0.000199681 616 chr7:150554233:C:A 2256_675_225_S->R 0.000199681 616 chr7:150554255:G:A 2256_697_233_V->M 0.000998403 616 chr7:150554261:C:G 2256_703_235_Q->E 0.00998403 616 chr7:150554310:G:A 2256_752_251_R->Q 0.000199681 616 chr7:150554394:C:T 2256_836_279_P->L 0.000399361 616 chr7:150554421:G:A 2256_863_288_R->H 0.000199681 616 chr7:150554459:C:T 2256_901_301_R->C 0.000199681 616 chr7:150554476:C:G 2256_918_306_H->Q 0.00139776 616 chr7:150554502:A:T 2256_944_315_N->I 0.000399361 616 chr7:150554508:T:C 2256_950_317_V->A 0.000199681 616 chr7:150554516:G:A 2256_958_320_G->S 0.000399361 616 chr7:150554529:T:A 2256_971_324_F->Y 0.000599042 616 chr7:150554534:T:G 2256_976_326_F->V 0.000199681 616 chr7:150554538:G:A 2256_980_327_R->Q 0.000199681 616 chr7:150554553:C:T 2256_995_332_S->F 0.053115 616 chr7:150554657:A:T 2256_1099_367_M->L 0.000199681 616 chr7:150554675:G:A 2256_1117_373_D->N 0.000199681 616 chr7:150554678:G:A 2256_1120_374_V->I 0.000199681 616 chr7:150554681:G:A 2256_1123_375_G->S 0.000199681 616 chr7:150554706:A:G 2256_1148_383_H->R 0.000199681 616 chr7:150554771:G:A 2256_1213_405_D->N 0.000199681 616 chr7:150554782:C:G 2256_1224_408_D->E 0.000199681 616 chr7:150554840:C:G 2256_1282_428_R->G 0.000199681 616 chr7:150554879:T:C 2256_1321_441_F->L 0.000399361 616 chr7:150554898:G:T 2256_1340_447_G->V 0.000199681 616 chr7:150554937:A:G 2256_1379_460_N->S 0.000199681 616 chr7:150554995:G:A 2256_1437_479_M->I 0.000998403 616 chr7:150555044:C:T 2256_1486_496_R->C 0.000199681 616 chr7:150555056:C:T 2256_1498_500_R->C 0.000199681 616 chr7:150555950:C:T 2256_1670_557_T->M 0.000199681 616 chr7:150555967:C:T 2256_1687_563_R->C 0.000599042 616 chr7:150555982:C:T 2256_1702_568_R->C 0.000199681 616 chr7:150556055:C:G 2256_1775_592_T->R 0.0 616 chr7:150556061:G:A 2256_1781_594_R->H 0.000199681 616 chr7:150557589:G:T 2256_1857_619_R->S 0.000199681 616 chr7:150557665:C:G 2256_1933_645_H->D 0.453275 616 chr7:150557704:G:A 2256_1972_658_E->K 0.000399361 616 chr7:150557707:A:C 2256_1975_659_N->H 0.00539137 616 chr7:150558093:C:A 2256_2052_684_N->K 0.000199681 616 chr7:150558111:C:G 2256_2070_690_N->K 0.000199681 616 chr7:150558197:G:A 2256_2156_719_R->Q 0.000399361 616 chr7:150558240:C:G 2256_2199_733_D->E 0.000798722 616 na12878 Variants: 616 chr7:150556055:C:G 2256_1775_592_T->R 616 snyder Variants: 616 chr7:150556055:C:G 2256_1775_592_T->R 616 chr7:150553605:C:T 2256_47_16_T->M 617 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000002726_ENST00000360937 gene_Name: AOC1_HUMAN 617 list of pdbs: 617 3MPH pdb_description: 08-Sep-10 X-ray 2.050 The structure of human diamine oxidase complexed with an inh aminoguanidine 617 3K5T pdb_description: 09-Feb-10 X-ray 2.110 Crystal structure of human diamine oxidase in space group c2 617 3HII pdb_description: 20-Oct-09 X-ray 2.150 Crystal structure of human diamine oxidase in complex with t inhibitor pentamidine 617 3HIG pdb_description: 20-Oct-09 X-ray 2.090 Crystal structure of human diamine oxidase in complex with t inhibitor berenil 617 3HI7 pdb_description: 20-Oct-09 X-ray 1.800 Crystal structure of human diamine oxidase 617 Zimmer Variants: 617 chr7:150556055:C:G 2256_1775_592_T->R 617 chr7:150557665:C:G 2256_1933_645_H->D 617 chr7:150553605:C:T 2256_47_16_T->M 617 HGMD Variants: 617 chr7:150554592:G:C 2256_1034_345_R->P 617 chr7:150557665:C:G 2256_1933_645_H->D 617 oneKG Variants: 617 chr7:150553586:G:A 2256_28_10_A->T 0.000399361 617 chr7:150553605:C:T 2256_47_16_T->M 0.312899 617 chr7:150553616:G:A 2256_58_20_E->K 0.000199681 617 chr7:150553842:G:A 2256_284_95_R->Q 0.000199681 617 chr7:150553850:C:T 2256_292_98_R->C 0.000199681 617 chr7:150553851:G:A 2256_293_98_R->H 0.000998403 617 chr7:150553856:G:A 2256_298_100_V->I 0.000199681 617 chr7:150553888:T:A 2256_330_110_N->K 0.000199681 617 chr7:150553974:C:A 2256_416_139_A->E 0.00239617 617 chr7:150554112:C:G 2256_554_185_T->S 0.00219649 617 chr7:150554114:G:A 2256_556_186_D->N 0.000199681 617 chr7:150554147:C:T 2256_589_197_R->C 0.000399361 617 chr7:150554151:G:A 2256_593_198_R->H 0.00199681 617 chr7:150554171:C:T 2256_613_205_R->C 0.000199681 617 chr7:150554233:C:A 2256_675_225_S->R 0.000199681 617 chr7:150554255:G:A 2256_697_233_V->M 0.000998403 617 chr7:150554261:C:G 2256_703_235_Q->E 0.00998403 617 chr7:150554310:G:A 2256_752_251_R->Q 0.000199681 617 chr7:150554394:C:T 2256_836_279_P->L 0.000399361 617 chr7:150554421:G:A 2256_863_288_R->H 0.000199681 617 chr7:150554459:C:T 2256_901_301_R->C 0.000199681 617 chr7:150554476:C:G 2256_918_306_H->Q 0.00139776 617 chr7:150554502:A:T 2256_944_315_N->I 0.000399361 617 chr7:150554508:T:C 2256_950_317_V->A 0.000199681 617 chr7:150554516:G:A 2256_958_320_G->S 0.000399361 617 chr7:150554529:T:A 2256_971_324_F->Y 0.000599042 617 chr7:150554534:T:G 2256_976_326_F->V 0.000199681 617 chr7:150554538:G:A 2256_980_327_R->Q 0.000199681 617 chr7:150554553:C:T 2256_995_332_S->F 0.053115 617 chr7:150554657:A:T 2256_1099_367_M->L 0.000199681 617 chr7:150554675:G:A 2256_1117_373_D->N 0.000199681 617 chr7:150554678:G:A 2256_1120_374_V->I 0.000199681 617 chr7:150554681:G:A 2256_1123_375_G->S 0.000199681 617 chr7:150554706:A:G 2256_1148_383_H->R 0.000199681 617 chr7:150554771:G:A 2256_1213_405_D->N 0.000199681 617 chr7:150554782:C:G 2256_1224_408_D->E 0.000199681 617 chr7:150554840:C:G 2256_1282_428_R->G 0.000199681 617 chr7:150554879:T:C 2256_1321_441_F->L 0.000399361 617 chr7:150554898:G:T 2256_1340_447_G->V 0.000199681 617 chr7:150554937:A:G 2256_1379_460_N->S 0.000199681 617 chr7:150554995:G:A 2256_1437_479_M->I 0.000998403 617 chr7:150555044:C:T 2256_1486_496_R->C 0.000199681 617 chr7:150555056:C:T 2256_1498_500_R->C 0.000199681 617 chr7:150555950:C:T 2256_1670_557_T->M 0.000199681 617 chr7:150555967:C:T 2256_1687_563_R->C 0.000599042 617 chr7:150555982:C:T 2256_1702_568_R->C 0.000199681 617 chr7:150556055:C:G 2256_1775_592_T->R 0.0 617 chr7:150556061:G:A 2256_1781_594_R->H 0.000199681 617 chr7:150557589:G:T 2256_1857_619_R->S 0.000199681 617 chr7:150557665:C:G 2256_1933_645_H->D 0.453275 617 chr7:150557704:G:A 2256_1972_658_E->K 0.000399361 617 chr7:150557707:A:C 2256_1975_659_N->H 0.00539137 617 chr7:150558093:C:A 2256_2052_684_N->K 0.000199681 617 chr7:150558111:C:G 2256_2070_690_N->K 0.000199681 617 chr7:150558197:G:A 2256_2156_719_R->Q 0.000399361 617 chr7:150558240:C:G 2256_2199_733_D->E 0.000798722 617 na12878 Variants: 617 chr7:150556055:C:G 2256_1775_592_T->R 617 snyder Variants: 617 chr7:150556055:C:G 2256_1775_592_T->R 617 chr7:150553605:C:T 2256_47_16_T->M 618 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000241644_ENST00000013222 gene_Name: INMT_HUMAN 618 list of pdbs: 618 2A14 pdb_description: 28-Jun-05 X-ray 1.700 Crystal structure of human indolethylamine n- methyltransferase with sah 618 Zimmer Variants: 618 chr7:30795331:A:G 792_656_219_E->G 618 chr7:30795436:T:G 792_761_254_F->C 618 HGMD Variants: 618 chr7:30795436:T:G 792_761_254_F->C 618 oneKG Variants: 618 chr7:30791800:C:T 792_34_12_Q->* 0.000199681 618 chr7:30795042:C:T 792_367_123_R->* 0.00319489 618 chr7:30791796:G:C 792_30_10_E->D 0.000199681 618 chr7:30791809:T:C 792_43_15_F->L 0.000199681 618 chr7:30791837:A:G 792_71_24_Y->C 0.000199681 618 chr7:30791848:G:A 792_82_28_D->N 0.258786 618 chr7:30791903:A:C 792_137_46_H->P 0.00479233 618 chr7:30793365:C:T 792_173_58_T->M 0.000599042 618 chr7:30793428:A:G 792_236_79_Q->R 0.000199681 618 chr7:30793436:A:G 792_244_82_T->A 0.000199681 618 chr7:30793454:G:A 792_262_88_D->N 0.000199681 618 chr7:30793466:G:A 792_274_92_E->K 0.000199681 618 chr7:30793521:C:T 792_329_110_A->V 0.000399361 618 chr7:30793524:T:A 792_332_111_V->E 0.000199681 618 chr7:30793532:G:A 792_340_114_A->T 0.0131789 618 chr7:30795061:A:G 792_386_129_E->G 0.000599042 618 chr7:30795087:G:T 792_412_138_V->L 0.00299521 618 chr7:30795106:A:G 792_431_144_H->R 0.000798722 618 chr7:30795144:G:A 792_469_157_A->T 0.000399361 618 chr7:30795241:C:T 792_566_189_P->L 0.000199681 618 chr7:30795280:C:T 792_605_202_P->L 0.000199681 618 chr7:30795288:A:G 792_613_205_M->V 0.246406 618 chr7:30795315:G:A 792_640_214_V->M 0.00119808 618 chr7:30795318:G:A 792_643_215_A->T 0.000199681 618 chr7:30795331:A:G 792_656_219_E->G 0.329273 618 chr7:30795343:A:C 792_668_223_Q->P 0.000199681 618 chr7:30795412:A:G 792_737_246_N->S 0.0413339 618 chr7:30795436:T:G 792_761_254_F->C 0.226837 618 chr7:30795447:C:T 792_772_258_R->C 0.000599042 618 chr7:30795448:G:A 792_773_258_R->H 0.0445288 618 chr7:30795456:C:T 792_781_261_P->S 0.0157748 618 na12878 Variants: 618 chr7:30795331:A:G 792_656_219_E->G 618 chr7:30795436:T:G 792_761_254_F->C 618 chr7:30791848:G:A 792_82_28_D->N 618 chr7:30795288:A:G 792_613_205_M->V 618 snyder Variants: 618 chr7:30795331:A:G 792_656_219_E->G 618 chr7:30795436:T:G 792_761_254_F->C 619 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000241644_ENST00000409539 gene_Name: INMT_HUMAN 619 list of pdbs: 619 2A14 pdb_description: 28-Jun-05 X-ray 1.700 Crystal structure of human indolethylamine n- methyltransferase with sah 619 Zimmer Variants: 619 chr7:30795331:A:G 789_653_218_E->G;GENE=INMT;CDSS=2 619 chr7:30795436:T:G 789_758_253_F->C;GENE=INMT;CDSS=2 619 HGMD Variants: 619 chr7:30795436:T:G 789_758_253_F->C 619 oneKG Variants: 619 chr7:30791800:C:T 789_34_12_Q->*,1 0.000199681 619 chr7:30795042:C:T 789_364_122_R->* 0.00319489 619 chr7:30791796:G:C 789_30_10_E->D,1 0.000199681 619 chr7:30791809:T:C 789_43_15_F->L,1 0.000199681 619 chr7:30791837:A:G 789_71_24_Y->C,1 0.000199681 619 chr7:30791848:G:A 789_82_28_D->N,1 0.258786 619 chr7:30791903:A:C 789_137_46_H->P,1 0.00479233 619 chr7:30793365:C:T 789_170_57_T->M,1 0.000599042 619 chr7:30793428:A:G 789_233_78_Q->R,1 0.000199681 619 chr7:30793436:A:G 789_241_81_T->A,1 0.000199681 619 chr7:30793454:G:A 789_259_87_D->N,1 0.000199681 619 chr7:30793466:G:A 789_271_91_E->K,1 0.000199681 619 chr7:30793521:C:T 789_326_109_A->V,1 0.000399361 619 chr7:30793524:T:A 789_329_110_V->E,1 0.000199681 619 chr7:30793532:G:A 789_337_113_A->T,1 0.0131789 619 chr7:30795061:A:G 789_383_128_E->G 0.000599042 619 chr7:30795087:G:T 789_409_137_V->L 0.00299521 619 chr7:30795106:A:G 789_428_143_H->R 0.000798722 619 chr7:30795144:G:A 789_466_156_A->T 0.000399361 619 chr7:30795241:C:T 789_563_188_P->L 0.000199681 619 chr7:30795280:C:T 789_602_201_P->L 0.000199681 619 chr7:30795288:A:G 789_610_204_M->V 0.246406 619 chr7:30795315:G:A 789_637_213_V->M 0.00119808 619 chr7:30795318:G:A 789_640_214_A->T 0.000199681 619 chr7:30795331:A:G 789_653_218_E->G 0.329273 619 chr7:30795343:A:C 789_665_222_Q->P 0.000199681 619 chr7:30795412:A:G 789_734_245_N->S 0.0413339 619 chr7:30795436:T:G 789_758_253_F->C 0.226837 619 chr7:30795447:C:T 789_769_257_R->C 0.000599042 619 chr7:30795448:G:A 789_770_257_R->H 0.0445288 619 chr7:30795456:C:T 789_778_260_P->S 0.0157748 619 na12878 Variants: 619 chr7:30795331:A:G 789_653_218_E->G 619 chr7:30795436:T:G 789_758_253_F->C 619 chr7:30791848:G:A 789_82_28_D->N,1 619 chr7:30795288:A:G 789_610_204_M->V 619 snyder Variants: 619 chr7:30795331:A:G 789_653_218_E->G 619 chr7:30795436:T:G 789_758_253_F->C 620 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000106605_ENST00000265523 gene_Name: BIEA_HUMAN 620 list of pdbs: 620 2H63 pdb_description: 04-Jul-06 X-ray 2.700 Crystal structure of human biliverdin reductase a (casp target) 620 Zimmer Variants: 620 chr7:43810764:G:A 891_7_3_A->T 620 HGMD Variants: 620 chr7:43827542:C:T 891_52_18_R->* 620 chr7:43827621:C:A 891_131_44_S->* 620 chr7:43810764:G:A 891_7_3_A->T 620 oneKG Variants: 620 chr7:43810764:G:A 891_7_3_A->T 0.178914 620 chr7:43810768:A:G 891_11_4_E->G 0.000199681 620 chr7:43827503:C:A 891_13_5_P->T 0.00119808 620 chr7:43827548:G:A 891_58_20_G->S 0.000199681 620 chr7:43827609:T:C 891_119_40_I->T 0.000199681 620 chr7:43827617:G:A 891_127_43_V->M 0.000199681 620 chr7:43830867:G:A 891_154_52_D->N 0.00119808 620 chr7:43830880:A:G 891_167_56_Q->R 0.00219649 620 chr7:43830954:G:A 891_241_81_E->K 0.000199681 620 chr7:43830959:C:G,T 891_246_82_D->E 0.000998403 620 chr7:43832373:C:T 891_314_105_A->V 0.00299521 620 chr7:43832375:G:A 891_316_106_A->T 0.000199681 620 chr7:43840111:G:A 891_400_134_A->T 0.00119808 620 chr7:43843296:G:A 891_482_161_R->Q 0.000199681 620 chr7:43846757:G:A 891_814_272_A->T 0.00579073 620 chr7:43846772:C:T 891_829_277_R->C 0.000399361 620 chr7:43846773:G:A 891_830_277_R->H 0.000199681 620 na12878 Variants: 620 chr7:43810764:G:A 891_7_3_A->T 620 snyder Variants: 620 chr7:43810764:G:A 891_7_3_A->T 621 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000106605_ENST00000402924 gene_Name: BIEA_HUMAN 621 list of pdbs: 621 2H63 pdb_description: 04-Jul-06 X-ray 2.700 Crystal structure of human biliverdin reductase a (casp target) 621 Zimmer Variants: 621 chr7:43810764:G:A 891_7_3_A->T;GNEG=Yes;GENE=BLVRA;CDSS=2 621 HGMD Variants: 621 chr7:43827542:C:T 891_52_18_R->* 621 chr7:43827621:C:A 891_131_44_S->* 621 chr7:43810764:G:A 891_7_3_A->T 621 oneKG Variants: 621 chr7:43810764:G:A 891_7_3_A->T 0.178914 621 chr7:43810768:A:G 891_11_4_E->G 0.000199681 621 chr7:43827503:C:A 891_13_5_P->T 0.00119808 621 chr7:43827548:G:A 891_58_20_G->S 0.000199681 621 chr7:43827609:T:C 891_119_40_I->T 0.000199681 621 chr7:43827617:G:A 891_127_43_V->M 0.000199681 621 chr7:43830867:G:A 891_154_52_D->N 0.00119808 621 chr7:43830880:A:G 891_167_56_Q->R 0.00219649 621 chr7:43830954:G:A 891_241_81_E->K 0.000199681 621 chr7:43830959:C:G,T 891_246_82_D->E,2 0.000998403 621 chr7:43832373:C:T 891_314_105_A->V 0.00299521 621 chr7:43832375:G:A 891_316_106_A->T 0.000199681 621 chr7:43840111:G:A 891_400_134_A->T 0.00119808 621 chr7:43843296:G:A 891_482_161_R->Q 0.000199681 621 chr7:43846757:G:A 891_814_272_A->T 0.00579073 621 chr7:43846772:C:T 891_829_277_R->C 0.000399361 621 chr7:43846773:G:A 891_830_277_R->H 0.000199681 621 na12878 Variants: 621 chr7:43810764:G:A 891_7_3_A->T 621 snyder Variants: 621 chr7:43810764:G:A 891_7_3_A->T 622 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000005421_ENST00000222381 gene_Name: PON1_HUMAN 622 list of pdbs: 622 1XHR pdb_description: 12-Oct-04 Theoret model Human paraoxonase 1 by homology to dfpase 622 1V04 pdb_description: 23-Apr-04 X-ray 2.200 Serum paraoxonase by directed evolution 622 Zimmer Variants: 622 chr7:94946084:A:T 1068_163_55_L->M 622 HGMD Variants: 622 chr7:94928381:G:T 1068_943_315_P->T 622 chr7:94937419:G:A 1068_602_201_A->V 622 chr7:94937446:T:C 1068_575_192_Q->R 622 chr7:94937447:G:C 1068_574_192_Q->E 622 chr7:94940782:T:C 1068_478_160_R->G 622 chr7:94940796:T:C 1068_464_155_H->R 622 chr7:94940879:C:A 1068_381_127_M->I 622 chr7:94940880:A:C 1068_380_127_M->R 622 chr7:94944679:C:T 1068_325_109_V->I 622 chr7:94944700:T:C 1068_304_102_I->V 622 chr7:94944735:A:G 1068_269_90_L->P,1 622 chr7:94946084:A:T 1068_163_55_L->M 622 chr7:94947656:A:G 1068_124_42_C->R 622 chr7:94953721:A:C 1068_67_23_S->A 622 oneKG Variants: 622 chr7:94937439:C:T 1068_582_194_W->* 0.000199681 622 chr7:94947686:G:A 1068_94_32_R->* 0.000798722 622 chr7:94947701:G:A 1068_79_27_R->* 0.000199681 622 chr7:94931521:G:A 1068_905_302_S->L 0.000199681 622 chr7:94931551:A:G 1068_875_292_F->S 0.000199681 622 chr7:94931560:A:T 1068_866_289_M->K 0.000599042 622 chr7:94935640:T:C 1068_737_246_H->R 0.000199681 622 chr7:94937330:C:T 1068_691_231_D->N 0.000199681 622 chr7:94937419:G:A 1068_602_201_A->V 0.000798722 622 chr7:94937446:T:C 1068_575_192_Q->R 0.457069 622 chr7:94940782:T:C 1068_478_160_R->G 0.0151757 622 chr7:94940859:T:C 1068_401_134_H->R 0.000199681 622 chr7:94940879:C:A 1068_381_127_M->I 0.000399361 622 chr7:94940880:A:C 1068_380_127_M->R 0.00259585 622 chr7:94940884:C:T 1068_376_126_A->T 0.000599042 622 chr7:94944636:T:A 1068_368_123_E->V 0.000399361 622 chr7:94944679:C:T 1068_325_109_V->I 0.00299521 622 chr7:94944704:C:G 1068_300_100_L->F 0.000199681 622 chr7:94944735:A:G 1068_269_90_L->P,1 0.000199681 622 chr7:94946072:G:A 1068_175_59_P->S 0.000199681 622 chr7:94946084:A:T 1068_163_55_L->M 0.182708 622 chr7:94947661:G:A 1068_119_40_P->L 0.00139776 622 chr7:94947700:C:T 1068_80_27_R->Q 0.000798722 622 chr7:94953733:T:C 1068_55_19_N->D 0.000998403 622 chr7:94953736:T:C 1068_52_18_R->G 0.000199681 622 chr7:94953771:G:A 1068_17_6_A->V 0.000399361 622 na12878 Variants: 622 chr7:94931641:A:G 1068_785_262_L->P 622 chr7:94946084:A:T 1068_163_55_L->M 622 snyder Variants: 622 chr7:94937446:T:C 1068_575_192_Q->R 622 chr7:94946084:A:T 1068_163_55_L->M 623 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000153317_ENST00000357668 gene_Name: ASAP1_HUMAN 623 list of pdbs: 623 2RQT pdb_description: 07-Jul-10 NMR 20 Solution structure of the human ddef1 sh3 domain 623 2ED1 pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of 130 kda phosphatidylinositol 4,5-biphosphate-dependent arf1 gtpase- activating protein 623 2DA0 pdb_description: 13-Jun-06 NMR 20 Solution structure of the ph domain of pip2-dependent arf1 gtpase-activating protein from human 623 2D1X pdb_description: 25-Apr-06 X-ray 1.900 The crystal structure of the cortactin-sh3 domain and amap1- peptide complex 623 2RQU pdb_description: 07-Jul-10 NMR 20 Solution structure of the complex between the ddef1 sh3 doma apc samp1 motif 623 Zimmer Variants: 623 chr8:131124559:T:C 3390_2182_728_I->V 623 HGMD Variants: 623 chr8:131140302:C:A 3390_1252_418_A->S 623 oneKG Variants: 623 chr8:131070283:A:C 3390_3232_1078_C->G 0.000199681 623 chr8:131072829:T:C 3390_3188_1063_N->S 0.00159744 623 chr8:131072869:T:C 3390_3148_1050_T->A 0.000199681 623 chr8:131072886:G:C 3390_3131_1044_S->C 0.000199681 623 chr8:131072976:G:A 3390_3041_1014_P->L 0.000199681 623 chr8:131073008:C:G 3390_3009_1003_Q->H 0.000199681 623 chr8:131073141:G:A 3390_2876_959_P->L 0.000199681 623 chr8:131073150:G:A 3390_2867_956_P->L 0.000199681 623 chr8:131073155:A:C 3390_2862_954_D->E 0.000199681 623 chr8:131073225:G:A 3390_2792_931_P->L 0.000199681 623 chr8:131073235:C:A 3390_2782_928_A->S 0.000199681 623 chr8:131073268:G:A 3390_2749_917_P->S 0.000199681 623 chr8:131104231:C:T 3390_2560_854_A->T 0.000599042 623 chr8:131124346:C:T 3390_2395_799_G->R 0.000199681 623 chr8:131124357:G:A 3390_2384_795_P->L 0.000199681 623 chr8:131124411:G:A 3390_2330_777_S->F 0.000199681 623 chr8:131124504:G:A 3390_2237_746_S->F 0.000199681 623 chr8:131124548:C:G 3390_2193_731_E->D 0.000199681 623 chr8:131124559:T:C 3390_2182_728_I->V 0.474441 623 chr8:131127924:T:G 3390_2122_708_N->H 0.000599042 623 chr8:131130458:C:T 3390_1829_610_R->Q 0.000399361 623 chr8:131130814:T:C 3390_1715_572_K->R 0.000199681 623 chr8:131130818:T:G 3390_1711_571_I->L 0.000199681 623 chr8:131136340:T:C 3390_1526_509_N->S 0.000798722 623 chr8:131140268:G:A 3390_1286_429_A->V 0.000399361 623 chr8:131140269:C:T 3390_1285_429_A->T 0.000399361 623 chr8:131140284:G:T 3390_1270_424_R->S 0.000199681 623 chr8:131149197:G:A 3390_1168_390_H->Y 0.000199681 623 chr8:131226840:T:A 3390_367_123_T->S 0.000199681 623 chr8:131226870:C:T 3390_337_113_D->N 0.000199681 623 na12878 Variants: 623 chr8:131124559:T:C 3390_2182_728_I->V 623 snyder Variants: 623 chr8:131124559:T:C 3390_2182_728_I->V 624 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000153317_ENST00000518721 gene_Name: ASAP1_HUMAN 624 list of pdbs: 624 2RQT pdb_description: 07-Jul-10 NMR 20 Solution structure of the human ddef1 sh3 domain 624 2ED1 pdb_description: 26-Feb-08 NMR 20 Solution structure of the sh3 domain of 130 kda phosphatidylinositol 4,5-biphosphate-dependent arf1 gtpase- activating protein 624 2DA0 pdb_description: 13-Jun-06 NMR 20 Solution structure of the ph domain of pip2-dependent arf1 gtpase-activating protein from human 624 2D1X pdb_description: 25-Apr-06 X-ray 1.900 The crystal structure of the cortactin-sh3 domain and amap1- peptide complex 624 2RQU pdb_description: 07-Jul-10 NMR 20 Solution structure of the complex between the ddef1 sh3 doma apc samp1 motif 624 Zimmer Variants: 624 chr8:131124559:T:C 3390_2182_728_I->V;GNEG=Yes;GENE=ASAP1;CDSS=2 624 HGMD Variants: 624 chr8:131140302:C:A 3390_1252_418_A->S 624 oneKG Variants: 624 chr8:131070283:A:C 3390_3232_1078_C->G 0.000199681 624 chr8:131072829:T:C 3390_3188_1063_N->S 0.00159744 624 chr8:131072869:T:C 3390_3148_1050_T->A 0.000199681 624 chr8:131072886:G:C 3390_3131_1044_S->C 0.000199681 624 chr8:131072976:G:A 3390_3041_1014_P->L 0.000199681 624 chr8:131073008:C:G 3390_3009_1003_Q->H 0.000199681 624 chr8:131073141:G:A 3390_2876_959_P->L 0.000199681 624 chr8:131073150:G:A 3390_2867_956_P->L 0.000199681 624 chr8:131073155:A:C 3390_2862_954_D->E 0.000199681 624 chr8:131073225:G:A 3390_2792_931_P->L 0.000199681 624 chr8:131073235:C:A 3390_2782_928_A->S 0.000199681 624 chr8:131073268:G:A 3390_2749_917_P->S 0.000199681 624 chr8:131104231:C:T 3390_2560_854_A->T 0.000599042 624 chr8:131124346:C:T 3390_2395_799_G->R 0.000199681 624 chr8:131124357:G:A 3390_2384_795_P->L 0.000199681 624 chr8:131124411:G:A 3390_2330_777_S->F 0.000199681 624 chr8:131124504:G:A 3390_2237_746_S->F 0.000199681 624 chr8:131124548:C:G 3390_2193_731_E->D 0.000199681 624 chr8:131124559:T:C 3390_2182_728_I->V 0.474441 624 chr8:131127924:T:G 3390_2122_708_N->H 0.000599042 624 chr8:131130458:C:T 3390_1829_610_R->Q 0.000399361 624 chr8:131130814:T:C 3390_1715_572_K->R 0.000199681 624 chr8:131130818:T:G 3390_1711_571_I->L 0.000199681 624 chr8:131136340:T:C 3390_1526_509_N->S 0.000798722 624 chr8:131140268:G:A 3390_1286_429_A->V 0.000399361 624 chr8:131140269:C:T 3390_1285_429_A->T 0.000399361 624 chr8:131140284:G:T 3390_1270_424_R->S 0.000199681 624 chr8:131149197:G:A 3390_1168_390_H->Y 0.000199681 624 chr8:131226840:T:A 3390_367_123_T->S 0.000199681 624 chr8:131226870:C:T 3390_337_113_D->N 0.000199681 624 na12878 Variants: 624 chr8:131124559:T:C 3390_2182_728_I->V 624 snyder Variants: 624 chr8:131124559:T:C 3390_2182_728_I->V 625 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164741_ENST00000276297 gene_Name: RHG07_HUMAN 625 list of pdbs: 625 3KUQ pdb_description: 26-Jan-10 X-ray 2.300 Crystal structure of the dlc1 rhogap domain 625 2LOZ pdb_description: 06-Jun-12 NMR 10 The novel binding mode of dlc1 and tensin2 ptb domain 625 2KAP pdb_description: 20-Oct-09 NMR 10 Solution structure of dlc1-sam 625 2GYT pdb_description: 24-Apr-07 NMR 10 Solution structure of the sam (sterile alpha motif) domain of dlc1 (deleted in liver cancer 1) 625 2DKY pdb_description: 24-Apr-07 NMR 20 Solution structure of the sam-domain of rho-gtpase- activating protein 7 625 Zimmer Variants: 625 chr8:13356802:G:A 4587_779_260_T->I 625 chr8:13356818:T:C 4587_763_255_N->D 625 chr8:13356819:T:G 4587_762_254_Q->H 625 HGMD Variants: 625 chr8:12943374:G:C 4587_4533_1511_I->M 625 chr8:12946177:C:G 4587_4111_1371_V->L 625 chr8:12956992:G:C 4587_2854_952_L->V 625 chr8:12957657:C:T 4587_2189_730_R->Q 625 chr8:12958163:G:T 4587_1683_561_D->E 625 chr8:13251078:G:T 4587_1298_433_T->N 625 chr8:13251124:C:T 4587_1252_418_E->K 625 chr8:13251139:A:T 4587_1237_413_L->M 625 chr8:13259073:A:T 4587_1079_360_M->K 625 chr8:13259101:G:A 4587_1051_351_R->W 625 chr8:13259104:C:T 4587_1048_350_A->T 625 chr8:13356784:C:T 4587_797_266_G->E 625 chr8:13356860:G:C 4587_721_241_P->A 625 chr8:13356922:G:A 4587_659_220_A->V 625 oneKG Variants: 625 chr8:12943382:C:T 4587_4525_1509_V->I 0.000798722 625 chr8:12943391:C:T 4587_4516_1506_A->T 0.000199681 625 chr8:12943905:C:T 4587_4360_1454_A->T 0.000199681 625 chr8:12943907:C:T 4587_4358_1453_R->H 0.000199681 625 chr8:12946082:G:C 4587_4206_1402_I->M 0.000199681 625 chr8:12946147:T:C 4587_4141_1381_I->V 0.000199681 625 chr8:12946149:T:A 4587_4139_1380_E->V 0.000199681 625 chr8:12946177:C:G 4587_4111_1371_V->L 0.000199681 625 chr8:12947768:T:C 4587_4067_1356_Y->C 0.000199681 625 chr8:12947784:G:T 4587_4051_1351_Q->K 0.000199681 625 chr8:12947789:G:A 4587_4046_1349_S->L 0.000599042 625 chr8:12947855:T:C 4587_3980_1327_D->G 0.000199681 625 chr8:12947856:C:A 4587_3979_1327_D->Y 0.00159744 625 chr8:12947888:T:C 4587_3947_1316_D->G 0.000199681 625 chr8:12947916:G:T 4587_3919_1307_L->M 0.000199681 625 chr8:12948847:C:T 4587_3835_1279_E->K 0.000199681 625 chr8:12948917:C:G 4587_3765_1255_L->F 0.000199681 625 chr8:12950182:C:A 4587_3679_1227_V->L 0.000599042 625 chr8:12950194:T:G 4587_3667_1223_T->P 0.000599042 625 chr8:12950217:A:T 4587_3644_1215_V->E 0.000199681 625 chr8:12950310:T:A 4587_3551_1184_Q->L 0.00259585 625 chr8:12952282:A:G 4587_3512_1171_L->P 0.000399361 625 chr8:12952379:C:T 4587_3415_1139_E->K 0.000199681 625 chr8:12952393:T:C 4587_3401_1134_D->G 0.000199681 625 chr8:12952397:T:C 4587_3397_1133_I->V 0.000199681 625 chr8:12952405:T:C 4587_3389_1130_E->G 0.000199681 625 chr8:12952600:C:T 4587_3322_1108_D->N 0.000399361 625 chr8:12952665:C:T 4587_3257_1086_R->H 0.000199681 625 chr8:12955911:C:G 4587_3164_1055_S->T 0.000199681 625 chr8:12955925:G:C 4587_3150_1050_N->K 0.000199681 625 chr8:12956081:G:C 4587_2994_998_H->Q 0.000399361 625 chr8:12956992:G:C 4587_2854_952_L->V 0.000199681 625 chr8:12956993:G:C 4587_2853_951_H->Q 0.000399361 625 chr8:12957028:C:A 4587_2818_940_V->F 0.000199681 625 chr8:12957090:A:G 4587_2756_919_I->T 0.000199681 625 chr8:12957162:G:A 4587_2684_895_A->V 0.000199681 625 chr8:12957181:A:G 4587_2665_889_S->P 0.000199681 625 chr8:12957214:T:C 4587_2632_878_I->V 0.000199681 625 chr8:12957234:G:C 4587_2612_871_S->C 0.000199681 625 chr8:12957280:T:C 4587_2566_856_S->G 0.000399361 625 chr8:12957399:C:G 4587_2447_816_G->A 0.000199681 625 chr8:12957424:A:G 4587_2422_808_Y->H 0.000199681 625 chr8:12957475:C:T 4587_2371_791_V->M 0.496605 625 chr8:12957483:T:C,G 4587_2363_788_N->S 0.000399361 625 chr8:12957483:T:C,G 4587_2363_788_N->T 0.000399361 625 chr8:12957498:T:C 4587_2348_783_N->S 0.000199681 625 chr8:12957534:C:A 4587_2312_771_R->L 0.000199681 625 chr8:12957582:G:A 4587_2264_755_T->M 0.000199681 625 chr8:12957627:G:T 4587_2219_740_T->N 0.000199681 625 chr8:12957633:G:A 4587_2213_738_T->M 0.000399361 625 chr8:12957657:C:T 4587_2189_730_R->Q 0.000199681 625 chr8:12957678:C:T 4587_2168_723_R->H 0.000399361 625 chr8:12957699:A:G 4587_2147_716_I->T 0.00139776 625 chr8:12957712:T:C 4587_2134_712_N->D 0.000199681 625 chr8:12957778:G:T 4587_2068_690_L->M 0.000199681 625 chr8:12957837:C:T 4587_2009_670_R->Q 0.000199681 625 chr8:12957848:A:T 4587_1998_666_S->R 0.000399361 625 chr8:12957850:T:A 4587_1996_666_S->C 0.000399361 625 chr8:12957889:T:C 4587_1957_653_M->V 0.000199681 625 chr8:12958020:G:A 4587_1826_609_P->L 0.00239617 625 chr8:12958036:G:C 4587_1810_604_P->A 0.000199681 625 chr8:12958048:T:C 4587_1798_600_T->A 0.000199681 625 chr8:12958050:C:T 4587_1796_599_S->N 0.000199681 625 chr8:12958147:G:C 4587_1699_567_P->A 0.000199681 625 chr8:12958163:G:T 4587_1683_561_D->E 0.00119808 625 chr8:12958165:C:T 4587_1681_561_D->N 0.000199681 625 chr8:12958182:A:G 4587_1664_555_V->A 0.00199681 625 chr8:12958273:C:T 4587_1573_525_D->N 0.000199681 625 chr8:12973148:G:A 4587_1367_456_A->V 0.000199681 625 chr8:12973149:C:T 4587_1366_456_A->T 0.000199681 625 chr8:13251063:G:A 4587_1313_438_T->M 0.000199681 625 chr8:13251117:G:A 4587_1259_420_T->M 0.000199681 625 chr8:13251126:G:A 4587_1250_417_T->I 0.00199681 625 chr8:13251136:A:G 4587_1240_414_S->P 0.000199681 625 chr8:13251193:A:C 4587_1183_395_S->A 0.000199681 625 chr8:13258984:C:G 4587_1168_390_V->L 0.000199681 625 chr8:13258990:G:A 4587_1162_388_R->W 0.00359425 625 chr8:13259031:C:T 4587_1121_374_S->N 0.000199681 625 chr8:13259046:A:T 4587_1106_369_I->K 0.000199681 625 chr8:13259070:T:G 4587_1082_361_K->T 0.000199681 625 chr8:13259074:T:C 4587_1078_360_M->V 0.000199681 625 chr8:13259075:A:C 4587_1077_359_I->M 0.000199681 625 chr8:13259100:C:T 4587_1052_351_R->Q 0.00419329 625 chr8:13259101:G:A 4587_1051_351_R->W 0.000399361 625 chr8:13259109:T:G 4587_1043_348_D->A 0.000199681 625 chr8:13356569:G:A 4587_1012_338_R->C 0.000199681 625 chr8:13356601:G:T 4587_980_327_T->N 0.000399361 625 chr8:13356607:A:G 4587_974_325_L->P 0.000998403 625 chr8:13356621:T:G 4587_960_320_Q->H 0.0587061 625 chr8:13356630:C:A 4587_951_317_Q->H 0.00599042 625 chr8:13356646:G:T 4587_935_312_A->E 0.000599042 625 chr8:13356655:T:A 4587_926_309_K->M 0.00599042 625 chr8:13356724:T:C 4587_857_286_N->S 0.000399361 625 chr8:13356737:G:A 4587_844_282_P->S 0.000199681 625 chr8:13356781:A:G 4587_800_267_L->P 0.00139776 625 chr8:13356788:T:C 4587_793_265_R->G 0.000199681 625 chr8:13356794:T:G 4587_787_263_T->P 0.000199681 625 chr8:13356802:G:A 4587_779_260_T->I 0.184904 625 chr8:13356812:A:T 4587_769_257_F->I 0.000798722 625 chr8:13356818:T:C 4587_763_255_N->D 0.041933 625 chr8:13356819:T:G 4587_762_254_Q->H 0.241613 625 chr8:13356829:T:C 4587_752_251_N->S 0.000199681 625 chr8:13356860:G:C 4587_721_241_P->A 0.00159744 625 chr8:13356914:T:C 4587_667_223_K->E 0.000199681 625 chr8:13356935:C:A 4587_646_216_V->L 0.000199681 625 chr8:13356949:A:G 4587_632_211_V->A 0.000199681 625 chr8:13356962:T:G 4587_619_207_K->Q 0.000399361 625 chr8:13356965:G:A 4587_616_206_P->S 0.000199681 625 chr8:13357039:C:A 4587_542_181_R->I 0.000199681 625 chr8:13357094:A:C 4587_487_163_S->A 0.000199681 625 chr8:13357118:G:T 4587_463_155_Q->K 0.000199681 625 chr8:13357234:T:C 4587_347_116_N->S 0.000199681 625 chr8:13357261:A:T 4587_320_107_L->Q 0.000399361 625 chr8:13357301:C:T 4587_280_94_E->K 0.000199681 625 chr8:13357316:C:T 4587_265_89_D->N 0.000199681 625 chr8:13357331:C:T 4587_250_84_D->N 0.0123802 625 chr8:13357340:G:C 4587_241_81_L->V 0.0848642 625 chr8:13357414:T:C 4587_167_56_E->G 0.00179712 625 chr8:13357421:G:A 4587_160_54_R->C 0.000199681 625 chr8:13357464:G:T 4587_117_39_S->R 0.000199681 625 chr8:13357502:G:A 4587_79_27_R->C 0.014976 625 chr8:13357526:C:G 4587_55_19_G->R 0.000199681 625 chr8:13357529:T:C 4587_52_18_M->V 0.000199681 625 na12878 Variants: 625 chr8:12957475:C:T 4587_2371_791_V->M 625 chr8:13356802:G:A 4587_779_260_T->I 625 chr8:13356818:T:C 4587_763_255_N->D 625 chr8:13356819:T:G 4587_762_254_Q->H 625 snyder Variants: 625 chr8:12957475:C:T 4587_2371_791_V->M 625 chr8:13356802:G:A 4587_779_260_T->I 625 chr8:13356818:T:C 4587_763_255_N->D 625 chr8:13356819:T:G 4587_762_254_Q->H 625 chr8:13357340:G:C 4587_241_81_L->V 626 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164741_ENST00000316609 gene_Name: RHG07_HUMAN 626 list of pdbs: 626 3KUQ pdb_description: 26-Jan-10 X-ray 2.300 Crystal structure of the dlc1 rhogap domain 626 2LOZ pdb_description: 06-Jun-12 NMR 10 The novel binding mode of dlc1 and tensin2 ptb domain 626 2KAP pdb_description: 20-Oct-09 NMR 10 Solution structure of dlc1-sam 626 2GYT pdb_description: 24-Apr-07 NMR 10 Solution structure of the sam (sterile alpha motif) domain of dlc1 (deleted in liver cancer 1) 626 2DKY pdb_description: 24-Apr-07 NMR 20 Solution structure of the sam-domain of rho-gtpase- activating protein 7 626 Zimmer Variants: 626 chr8:13356802:G:A 1497_779_260_T->I 626 chr8:13356818:T:C 1497_763_255_N->D 626 chr8:13356819:T:G 1497_762_254_Q->H 626 HGMD Variants: 626 chr8:13251078:G:T 1497_1298_433_T->N 626 chr8:13251124:C:T 1497_1252_418_E->K 626 chr8:13251139:A:T 1497_1237_413_L->M 626 chr8:13259073:A:T 1497_1079_360_M->K 626 chr8:13259101:G:A 1497_1051_351_R->W 626 chr8:13259104:C:T 1497_1048_350_A->T 626 chr8:13356784:C:T 1497_797_266_G->E 626 chr8:13356860:G:C 1497_721_241_P->A 626 chr8:13356922:G:A 1497_659_220_A->V 626 oneKG Variants: 626 chr8:13072149:C:G 1497_1483_495_E->Q 0.000399361 626 chr8:13072158:C:A 1497_1474_492_A->S 0.000798722 626 chr8:13072184:A:C 1497_1448_483_F->C 0.000199681 626 chr8:13072200:A:C 1497_1432_478_L->V 0.000199681 626 chr8:13072257:C:G 1497_1375_459_D->H 0.00239617 626 chr8:13072283:G:A 1497_1349_450_A->V 0.00479233 626 chr8:13251063:G:A 1497_1313_438_T->M 0.000199681 626 chr8:13251117:G:A 1497_1259_420_T->M 0.000199681 626 chr8:13251126:G:A 1497_1250_417_T->I 0.00199681 626 chr8:13251136:A:G 1497_1240_414_S->P 0.000199681 626 chr8:13251193:A:C 1497_1183_395_S->A 0.000199681 626 chr8:13258984:C:G 1497_1168_390_V->L 0.000199681 626 chr8:13258990:G:A 1497_1162_388_R->W 0.00359425 626 chr8:13259031:C:T 1497_1121_374_S->N 0.000199681 626 chr8:13259046:A:T 1497_1106_369_I->K 0.000199681 626 chr8:13259070:T:G 1497_1082_361_K->T 0.000199681 626 chr8:13259074:T:C 1497_1078_360_M->V 0.000199681 626 chr8:13259075:A:C 1497_1077_359_I->M 0.000199681 626 chr8:13259100:C:T 1497_1052_351_R->Q 0.00419329 626 chr8:13259101:G:A 1497_1051_351_R->W 0.000399361 626 chr8:13259109:T:G 1497_1043_348_D->A 0.000199681 626 chr8:13356569:G:A 1497_1012_338_R->C 0.000199681 626 chr8:13356601:G:T 1497_980_327_T->N 0.000399361 626 chr8:13356607:A:G 1497_974_325_L->P 0.000998403 626 chr8:13356621:T:G 1497_960_320_Q->H 0.0587061 626 chr8:13356630:C:A 1497_951_317_Q->H 0.00599042 626 chr8:13356646:G:T 1497_935_312_A->E 0.000599042 626 chr8:13356655:T:A 1497_926_309_K->M 0.00599042 626 chr8:13356724:T:C 1497_857_286_N->S 0.000399361 626 chr8:13356737:G:A 1497_844_282_P->S 0.000199681 626 chr8:13356781:A:G 1497_800_267_L->P 0.00139776 626 chr8:13356788:T:C 1497_793_265_R->G 0.000199681 626 chr8:13356794:T:G 1497_787_263_T->P 0.000199681 626 chr8:13356802:G:A 1497_779_260_T->I 0.184904 626 chr8:13356812:A:T 1497_769_257_F->I 0.000798722 626 chr8:13356818:T:C 1497_763_255_N->D 0.041933 626 chr8:13356819:T:G 1497_762_254_Q->H 0.241613 626 chr8:13356829:T:C 1497_752_251_N->S 0.000199681 626 chr8:13356860:G:C 1497_721_241_P->A 0.00159744 626 chr8:13356914:T:C 1497_667_223_K->E 0.000199681 626 chr8:13356935:C:A 1497_646_216_V->L 0.000199681 626 chr8:13356949:A:G 1497_632_211_V->A 0.000199681 626 chr8:13356962:T:G 1497_619_207_K->Q 0.000399361 626 chr8:13356965:G:A 1497_616_206_P->S 0.000199681 626 chr8:13357039:C:A 1497_542_181_R->I 0.000199681 626 chr8:13357094:A:C 1497_487_163_S->A 0.000199681 626 chr8:13357118:G:T 1497_463_155_Q->K 0.000199681 626 chr8:13357234:T:C 1497_347_116_N->S 0.000199681 626 chr8:13357261:A:T 1497_320_107_L->Q 0.000399361 626 chr8:13357301:C:T 1497_280_94_E->K 0.000199681 626 chr8:13357316:C:T 1497_265_89_D->N 0.000199681 626 chr8:13357331:C:T 1497_250_84_D->N 0.0123802 626 chr8:13357340:G:C 1497_241_81_L->V 0.0848642 626 chr8:13357414:T:C 1497_167_56_E->G 0.00179712 626 chr8:13357421:G:A 1497_160_54_R->C 0.000199681 626 chr8:13357464:G:T 1497_117_39_S->R 0.000199681 626 chr8:13357502:G:A 1497_79_27_R->C 0.014976 626 chr8:13357526:C:G 1497_55_19_G->R 0.000199681 626 chr8:13357529:T:C 1497_52_18_M->V 0.000199681 626 na12878 Variants: 626 chr8:13356802:G:A 1497_779_260_T->I 626 chr8:13356818:T:C 1497_763_255_N->D 626 chr8:13356819:T:G 1497_762_254_Q->H 626 snyder Variants: 626 chr8:13356802:G:A 1497_779_260_T->I 626 chr8:13356818:T:C 1497_763_255_N->D 626 chr8:13356819:T:G 1497_762_254_Q->H 626 chr8:13357340:G:C 1497_241_81_L->V 627 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000164741_ENST00000511869 gene_Name: RHG07_HUMAN 627 list of pdbs: 627 3KUQ pdb_description: 26-Jan-10 X-ray 2.300 Crystal structure of the dlc1 rhogap domain 627 2LOZ pdb_description: 06-Jun-12 NMR 10 The novel binding mode of dlc1 and tensin2 ptb domain 627 2KAP pdb_description: 20-Oct-09 NMR 10 Solution structure of dlc1-sam 627 2GYT pdb_description: 24-Apr-07 NMR 10 Solution structure of the sam (sterile alpha motif) domain of dlc1 (deleted in liver cancer 1) 627 2DKY pdb_description: 24-Apr-07 NMR 20 Solution structure of the sam-domain of rho-gtpase- activating protein 7 627 Zimmer Variants: 627 chr8:13356802:G:A 1392_779_260_T->I;GNEG=Yes;GENE=DLC1;CDSS=2;DBRECUR=DLC1 627 chr8:13356818:T:C 1392_763_255_N->D;GNEG=Yes;GENE=DLC1;CDSS=2;DBRECUR=DLC1 627 chr8:13356819:T:G 1392_762_254_Q->H;GNEG=Yes;GENE=DLC1;CDSS=2;DBRECUR=DLC1 627 HGMD Variants: 627 chr8:13251078:G:T 1392_1298_433_T->N 627 chr8:13251124:C:T 1392_1252_418_E->K 627 chr8:13251139:A:T 1392_1237_413_L->M 627 chr8:13259073:A:T 1392_1079_360_M->K 627 chr8:13259101:G:A 1392_1051_351_R->W 627 chr8:13259104:C:T 1392_1048_350_A->T 627 chr8:13356784:C:T 1392_797_266_G->E 627 chr8:13356860:G:C 1392_721_241_P->A 627 chr8:13356922:G:A 1392_659_220_A->V 627 oneKG Variants: 627 chr8:13162769:T:A 1392_1357_453_T->S 0.000199681 627 chr8:13251063:G:A 1392_1313_438_T->M 0.000199681 627 chr8:13251117:G:A 1392_1259_420_T->M 0.000199681 627 chr8:13251126:G:A 1392_1250_417_T->I 0.00199681 627 chr8:13251136:A:G 1392_1240_414_S->P 0.000199681 627 chr8:13251193:A:C 1392_1183_395_S->A 0.000199681 627 chr8:13258984:C:G 1392_1168_390_V->L 0.000199681 627 chr8:13258990:G:A 1392_1162_388_R->W 0.00359425 627 chr8:13259031:C:T 1392_1121_374_S->N 0.000199681 627 chr8:13259046:A:T 1392_1106_369_I->K 0.000199681 627 chr8:13259070:T:G 1392_1082_361_K->T 0.000199681 627 chr8:13259074:T:C 1392_1078_360_M->V 0.000199681 627 chr8:13259075:A:C 1392_1077_359_I->M 0.000199681 627 chr8:13259100:C:T 1392_1052_351_R->Q 0.00419329 627 chr8:13259101:G:A 1392_1051_351_R->W 0.000399361 627 chr8:13259109:T:G 1392_1043_348_D->A 0.000199681 627 chr8:13356569:G:A 1392_1012_338_R->C 0.000199681 627 chr8:13356601:G:T 1392_980_327_T->N 0.000399361 627 chr8:13356607:A:G 1392_974_325_L->P 0.000998403 627 chr8:13356621:T:G 1392_960_320_Q->H 0.0587061 627 chr8:13356630:C:A 1392_951_317_Q->H 0.00599042 627 chr8:13356646:G:T 1392_935_312_A->E 0.000599042 627 chr8:13356655:T:A 1392_926_309_K->M 0.00599042 627 chr8:13356724:T:C 1392_857_286_N->S 0.000399361 627 chr8:13356737:G:A 1392_844_282_P->S 0.000199681 627 chr8:13356781:A:G 1392_800_267_L->P 0.00139776 627 chr8:13356788:T:C 1392_793_265_R->G 0.000199681 627 chr8:13356794:T:G 1392_787_263_T->P 0.000199681 627 chr8:13356802:G:A 1392_779_260_T->I 0.184904 627 chr8:13356812:A:T 1392_769_257_F->I 0.000798722 627 chr8:13356818:T:C 1392_763_255_N->D 0.041933 627 chr8:13356819:T:G 1392_762_254_Q->H 0.241613 627 chr8:13356829:T:C 1392_752_251_N->S 0.000199681 627 chr8:13356860:G:C 1392_721_241_P->A 0.00159744 627 chr8:13356914:T:C 1392_667_223_K->E 0.000199681 627 chr8:13356935:C:A 1392_646_216_V->L 0.000199681 627 chr8:13356949:A:G 1392_632_211_V->A 0.000199681 627 chr8:13356962:T:G 1392_619_207_K->Q 0.000399361 627 chr8:13356965:G:A 1392_616_206_P->S 0.000199681 627 chr8:13357039:C:A 1392_542_181_R->I 0.000199681 627 chr8:13357094:A:C 1392_487_163_S->A 0.000199681 627 chr8:13357118:G:T 1392_463_155_Q->K 0.000199681 627 chr8:13357234:T:C 1392_347_116_N->S 0.000199681 627 chr8:13357261:A:T 1392_320_107_L->Q 0.000399361 627 chr8:13357301:C:T 1392_280_94_E->K 0.000199681 627 chr8:13357316:C:T 1392_265_89_D->N 0.000199681 627 chr8:13357331:C:T 1392_250_84_D->N 0.0123802 627 chr8:13357340:G:C 1392_241_81_L->V 0.0848642 627 chr8:13357414:T:C 1392_167_56_E->G 0.00179712 627 chr8:13357421:G:A 1392_160_54_R->C 0.000199681 627 chr8:13357464:G:T 1392_117_39_S->R 0.000199681 627 chr8:13357502:G:A 1392_79_27_R->C 0.014976 627 chr8:13357526:C:G 1392_55_19_G->R 0.000199681 627 chr8:13357529:T:C 1392_52_18_M->V 0.000199681 627 na12878 Variants: 627 chr8:13356802:G:A 1392_779_260_T->I 627 chr8:13356818:T:C 1392_763_255_N->D 627 chr8:13356819:T:G 1392_762_254_Q->H 627 snyder Variants: 627 chr8:13356802:G:A 1392_779_260_T->I 627 chr8:13356818:T:C 1392_763_255_N->D 627 chr8:13356819:T:G 1392_762_254_Q->H 627 chr8:13357340:G:C 1392_241_81_L->V 628 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180900_ENST00000356994 gene_Name: SCRIB_HUMAN 628 list of pdbs: 628 2W4F pdb_description: 09-Dec-08 X-ray 1.300 Crystal structure of the first pdz domain of human scrib1 628 1X5Q pdb_description: 16-Nov-05 NMR 20 Solution structure of the first pdz domain of scribble homolog protein (hscrib) 628 1WHA pdb_description: 28-Nov-04 NMR 20 Solution structure of the second pdz domain of human scribble (kiaa0147 protein). 628 1UJU pdb_description: 11-Feb-04 NMR 20 Solution structure of the fourth pdz domain of human scribble (kiaa0147 protein) 628 Zimmer Variants: 628 chr8:144893084:G:A 4968_1265_422_P->L 628 chr8:144895820:C:T 4968_433_145_G->R 628 HGMD Variants: 628 chr8:144874214:C:T 4968_4604_1535_R->Q 628 chr8:144874259:A:C 4968_4559_1520_L->R 628 chr8:144875168:G:A 4968_3995_1332_P->L 628 chr8:144875220:C:T 4968_3943_1315_A->T 628 chr8:144886103:G:A 4968_3128_1043_P->L 628 chr8:144891120:G:A 4968_1774_592_P->S 628 chr8:144891764:G:A 4968_1655_552_T->M 628 chr8:144893326:C:T 4968_1096_366_A->T 628 oneKG Variants: 628 chr8:144873359:G:A 4968_4942_1648_R->C 0.000599042 628 chr8:144873379:C:T 4968_4922_1641_R->H 0.000399361 628 chr8:144873407:C:G 4968_4894_1632_E->Q 0.000399361 628 chr8:144873421:C:T 4968_4880_1627_G->D 0.000199681 628 chr8:144873475:G:A 4968_4826_1609_P->L 0.00439297 628 chr8:144873606:G:A 4968_4775_1592_P->L 0.000599042 628 chr8:144873873:G:A 4968_4733_1578_A->V 0.000199681 628 chr8:144874078:C:T 4968_4663_1555_G->S 0.0317492 628 chr8:144874274:C:T 4968_4544_1515_R->Q 0.000599042 628 chr8:144874555:G:C 4968_4349_1450_P->R 0.000399361 628 chr8:144874562:A:G 4968_4342_1448_S->P 0.000399361 628 chr8:144874710:C:T 4968_4273_1425_E->K 0.000998403 628 chr8:144874725:C:T 4968_4258_1420_G->R 0.000199681 628 chr8:144874959:G:A 4968_4096_1366_R->C 0.000199681 628 chr8:144874992:G:A 4968_4063_1355_R->W 0.000798722 628 chr8:144875154:G:A 4968_4009_1337_P->S 0.00179712 628 chr8:144875168:G:A 4968_3995_1332_P->L 0.00199681 628 chr8:144875184:C:T 4968_3979_1327_V->M 0.000798722 628 chr8:144876123:C:G 4968_3856_1286_G->R 0.000798722 628 chr8:144876126:A:G 4968_3853_1285_S->P 0.000399361 628 chr8:144877225:C:T 4968_3829_1277_A->T 0.000399361 628 chr8:144877245:G:C 4968_3809_1270_A->G 0.000599042 628 chr8:144877248:C:T 4968_3806_1269_R->H 0.000199681 628 chr8:144877449:C:A 4968_3769_1257_A->S 0.000199681 628 chr8:144877497:C:T 4968_3721_1241_E->K 0.000199681 628 chr8:144877654:T:G 4968_3650_1217_H->P 0.0109824 628 chr8:144877657:C:A 4968_3647_1216_G->V 0.000199681 628 chr8:144877658:C:T 4968_3646_1216_G->S 0.000199681 628 chr8:144885564:C:T 4968_3592_1198_A->T 0.000399361 628 chr8:144885608:G:A 4968_3548_1183_T->I 0.000199681 628 chr8:144885650:G:A 4968_3506_1169_T->M 0.000199681 628 chr8:144885669:G:C 4968_3487_1163_Q->E 0.00339457 628 chr8:144885701:C:T 4968_3455_1152_R->H 0.00259585 628 chr8:144885849:C:T 4968_3382_1128_D->N 0.000199681 628 chr8:144885864:C:T 4968_3367_1123_A->T 0.000399361 628 chr8:144885908:C:T 4968_3323_1108_G->E 0.000599042 628 chr8:144886005:T:C 4968_3226_1076_S->G 0.000199681 628 chr8:144886085:C:A 4968_3146_1049_R->L 0.000199681 628 chr8:144886086:G:A 4968_3145_1049_R->C 0.000399361 628 chr8:144886101:G:A 4968_3130_1044_R->W 0.000399361 628 chr8:144886269:C:T 4968_3067_1023_D->N 0.00239617 628 chr8:144886752:G:C 4968_2995_999_P->A 0.000199681 628 chr8:144886754:C:T 4968_2993_998_G->E 0.000798722 628 chr8:144886758:C:G 4968_2989_997_E->Q 0.000199681 628 chr8:144886764:C:G 4968_2983_995_A->P 0.000199681 628 chr8:144886809:C:T 4968_2938_980_G->R 0.0972444 628 chr8:144886814:G:A 4968_2933_978_T->I 0.000199681 628 chr8:144886972:C:G 4968_2775_925_E->D 0.000199681 628 chr8:144887160:C:T 4968_2695_899_E->K 0.000399361 628 chr8:144887368:C:T 4968_2584_862_V->M 0.000199681 628 chr8:144887428:C:T 4968_2524_842_G->R 0.00119808 628 chr8:144888599:C:T 4968_2324_775_R->H 0.000199681 628 chr8:144888611:C:T 4968_2312_771_R->Q 0.000199681 628 chr8:144888612:G:A 4968_2311_771_R->W 0.000199681 628 chr8:144888645:T:C 4968_2278_760_I->V 0.000199681 628 chr8:144889179:G:A 4968_2183_728_T->I 0.000599042 628 chr8:144890802:C:G 4968_2092_698_V->L 0.000199681 628 chr8:144890873:A:T 4968_2021_674_V->E 0.0 628 chr8:144890877:C:T 4968_2017_673_E->K 0.000199681 628 chr8:144890907:C:T 4968_1987_663_E->K 0.000399361 628 chr8:144890943:C:T 4968_1951_651_A->T 0.000199681 628 chr8:144890957:T:A 4968_1937_646_H->L 0.000399361 628 chr8:144890963:C:A 4968_1931_644_G->V 0.000798722 628 chr8:144890976:C:T 4968_1918_640_V->M 0.000199681 628 chr8:144891150:T:C 4968_1744_582_R->G 0.000199681 628 chr8:144891185:T:C 4968_1709_570_H->R 0.000199681 628 chr8:144891195:G:A 4968_1699_567_P->S 0.000199681 628 chr8:144891764:G:A 4968_1655_552_T->M 0.000199681 628 chr8:144891768:C:T 4968_1651_551_A->T 0.0177716 628 chr8:144891810:C:T 4968_1609_537_E->K 0.000199681 628 chr8:144891813:G:C 4968_1606_536_P->A 0.000199681 628 chr8:144891881:C:T 4968_1538_513_R->Q 0.000399361 628 chr8:144892659:G:A 4968_1520_507_P->L 0.000199681 628 chr8:144892682:C:A 4968_1497_499_Q->H 0.000199681 628 chr8:144892692:C:T 4968_1487_496_C->Y 0.000199681 628 chr8:144892902:G:A 4968_1358_453_A->V 0.000199681 628 chr8:144892941:G:A 4968_1319_440_A->V 0.00259585 628 chr8:144892984:C:T 4968_1276_426_D->N 0.00519169 628 chr8:144893079:G:A 4968_1270_424_L->F 0.000199681 628 chr8:144893084:G:A 4968_1265_422_P->L 0.465855 628 chr8:144893145:C:T 4968_1204_402_D->N 0.000399361 628 chr8:144893150:G:A 4968_1199_400_T->M 0.000199681 628 chr8:144893317:G:A 4968_1105_369_R->C 0.00119808 628 chr8:144893368:G:A 4968_1054_352_P->S 0.000199681 628 chr8:144893425:C:T 4968_997_333_G->S 0.000798722 628 chr8:144893460:C:T 4968_962_321_R->Q 0.000199681 628 chr8:144893484:T:G 4968_938_313_K->T 0.000199681 628 chr8:144894441:G:C 4968_901_301_L->V 0.000399361 628 chr8:144894452:G:C 4968_890_297_T->R 0.000798722 628 chr8:144894525:C:T 4968_817_273_V->I 0.000199681 628 chr8:144894996:C:T 4968_778_260_D->N 0.000199681 628 chr8:144895053:C:T 4968_721_241_G->R 0.000199681 628 chr8:144895495:C:T 4968_553_185_D->N 0.000399361 628 chr8:144895688:T:C 4968_455_152_N->S 0.000399361 628 chr8:144895820:C:T 4968_433_145_G->R 0.000399361 628 chr8:144895837:G:A 4968_416_139_S->F 0.000199681 628 chr8:144896015:G:A 4968_329_110_A->V 0.000199681 628 chr8:144896066:T:G 4968_278_93_D->A 0.000199681 628 chr8:144896183:C:T 4968_265_89_V->M 0.000199681 628 chr8:144897439:C:T 4968_104_35_S->N 0.000199681 628 chr8:144897466:G:A 4968_77_26_A->V 0.000199681 628 na12878 Variants: 628 chr8:144893084:G:A 4968_1265_422_P->L 628 chr8:144886809:C:T 4968_2938_980_G->R 628 snyder Variants: 628 chr8:144893084:G:A 4968_1265_422_P->L 628 chr8:144891768:C:T 4968_1651_551_A->T 629 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180900_ENST00000320476 gene_Name: SCRIB_HUMAN 629 list of pdbs: 629 2W4F pdb_description: 09-Dec-08 X-ray 1.300 Crystal structure of the first pdz domain of human scrib1 629 1X5Q pdb_description: 16-Nov-05 NMR 20 Solution structure of the first pdz domain of scribble homolog protein (hscrib) 629 1WHA pdb_description: 28-Nov-04 NMR 20 Solution structure of the second pdz domain of human scribble (kiaa0147 protein). 629 1UJU pdb_description: 11-Feb-04 NMR 20 Solution structure of the fourth pdz domain of human scribble (kiaa0147 protein) 629 Zimmer Variants: 629 chr8:144893084:G:A 4893_1265_422_P->L 629 chr8:144895820:C:T 4893_433_145_G->R 629 HGMD Variants: 629 chr8:144874214:C:T 4893_4604_1535_R->Q 629 chr8:144874259:A:C 4893_4559_1520_L->R 629 chr8:144875168:G:A 4893_3995_1332_P->L 629 chr8:144875220:C:T 4893_3943_1315_A->T 629 chr8:144886103:G:A 4893_3128_1043_P->L 629 chr8:144891120:G:A 4893_1774_592_P->S 629 chr8:144891764:G:A 4893_1655_552_T->M 629 chr8:144893326:C:T 4893_1096_366_A->T 629 oneKG Variants: 629 chr8:144873359:G:A 4893_4867_1623_R->C 0.000599042 629 chr8:144873379:C:T 4893_4847_1616_R->H 0.000399361 629 chr8:144873407:C:G 4893_4819_1607_E->Q 0.000399361 629 chr8:144873421:C:T 4893_4805_1602_G->D 0.000199681 629 chr8:144873475:G:A 4893_4751_1584_P->L 0.00439297 629 chr8:144873606:G:A 4893_4700_1567_P->L 0.000599042 629 chr8:144874078:C:T 4893_4663_1555_G->S 0.0317492 629 chr8:144874274:C:T 4893_4544_1515_R->Q 0.000599042 629 chr8:144874555:G:C 4893_4349_1450_P->R 0.000399361 629 chr8:144874562:A:G 4893_4342_1448_S->P 0.000399361 629 chr8:144874710:C:T 4893_4273_1425_E->K 0.000998403 629 chr8:144874725:C:T 4893_4258_1420_G->R 0.000199681 629 chr8:144874959:G:A 4893_4096_1366_R->C 0.000199681 629 chr8:144874992:G:A 4893_4063_1355_R->W 0.000798722 629 chr8:144875154:G:A 4893_4009_1337_P->S 0.00179712 629 chr8:144875168:G:A 4893_3995_1332_P->L 0.00199681 629 chr8:144875184:C:T 4893_3979_1327_V->M 0.000798722 629 chr8:144876123:C:G 4893_3856_1286_G->R 0.000798722 629 chr8:144876126:A:G 4893_3853_1285_S->P 0.000399361 629 chr8:144877225:C:T 4893_3829_1277_A->T 0.000399361 629 chr8:144877245:G:C 4893_3809_1270_A->G 0.000599042 629 chr8:144877248:C:T 4893_3806_1269_R->H 0.000199681 629 chr8:144877449:C:A 4893_3769_1257_A->S 0.000199681 629 chr8:144877497:C:T 4893_3721_1241_E->K 0.000199681 629 chr8:144877654:T:G 4893_3650_1217_H->P 0.0109824 629 chr8:144877657:C:A 4893_3647_1216_G->V 0.000199681 629 chr8:144877658:C:T 4893_3646_1216_G->S 0.000199681 629 chr8:144885564:C:T 4893_3592_1198_A->T 0.000399361 629 chr8:144885608:G:A 4893_3548_1183_T->I 0.000199681 629 chr8:144885650:G:A 4893_3506_1169_T->M 0.000199681 629 chr8:144885669:G:C 4893_3487_1163_Q->E 0.00339457 629 chr8:144885701:C:T 4893_3455_1152_R->H 0.00259585 629 chr8:144885849:C:T 4893_3382_1128_D->N 0.000199681 629 chr8:144885864:C:T 4893_3367_1123_A->T 0.000399361 629 chr8:144885908:C:T 4893_3323_1108_G->E 0.000599042 629 chr8:144886005:T:C 4893_3226_1076_S->G 0.000199681 629 chr8:144886085:C:A 4893_3146_1049_R->L 0.000199681 629 chr8:144886086:G:A 4893_3145_1049_R->C 0.000399361 629 chr8:144886101:G:A 4893_3130_1044_R->W 0.000399361 629 chr8:144886269:C:T 4893_3067_1023_D->N 0.00239617 629 chr8:144886752:G:C 4893_2995_999_P->A 0.000199681 629 chr8:144886754:C:T 4893_2993_998_G->E 0.000798722 629 chr8:144886758:C:G 4893_2989_997_E->Q 0.000199681 629 chr8:144886764:C:G 4893_2983_995_A->P 0.000199681 629 chr8:144886809:C:T 4893_2938_980_G->R 0.0972444 629 chr8:144886814:G:A 4893_2933_978_T->I 0.000199681 629 chr8:144886972:C:G 4893_2775_925_E->D 0.000199681 629 chr8:144887160:C:T 4893_2695_899_E->K 0.000399361 629 chr8:144887368:C:T 4893_2584_862_V->M 0.000199681 629 chr8:144887428:C:T 4893_2524_842_G->R 0.00119808 629 chr8:144888599:C:T 4893_2324_775_R->H 0.000199681 629 chr8:144888611:C:T 4893_2312_771_R->Q 0.000199681 629 chr8:144888612:G:A 4893_2311_771_R->W 0.000199681 629 chr8:144888645:T:C 4893_2278_760_I->V 0.000199681 629 chr8:144889179:G:A 4893_2183_728_T->I 0.000599042 629 chr8:144890802:C:G 4893_2092_698_V->L 0.000199681 629 chr8:144890873:A:T 4893_2021_674_V->E 0.0 629 chr8:144890877:C:T 4893_2017_673_E->K 0.000199681 629 chr8:144890907:C:T 4893_1987_663_E->K 0.000399361 629 chr8:144890943:C:T 4893_1951_651_A->T 0.000199681 629 chr8:144890957:T:A 4893_1937_646_H->L 0.000399361 629 chr8:144890963:C:A 4893_1931_644_G->V 0.000798722 629 chr8:144890976:C:T 4893_1918_640_V->M 0.000199681 629 chr8:144891150:T:C 4893_1744_582_R->G 0.000199681 629 chr8:144891185:T:C 4893_1709_570_H->R 0.000199681 629 chr8:144891195:G:A 4893_1699_567_P->S 0.000199681 629 chr8:144891764:G:A 4893_1655_552_T->M 0.000199681 629 chr8:144891768:C:T 4893_1651_551_A->T 0.0177716 629 chr8:144891810:C:T 4893_1609_537_E->K 0.000199681 629 chr8:144891813:G:C 4893_1606_536_P->A 0.000199681 629 chr8:144891881:C:T 4893_1538_513_R->Q 0.000399361 629 chr8:144892659:G:A 4893_1520_507_P->L 0.000199681 629 chr8:144892682:C:A 4893_1497_499_Q->H 0.000199681 629 chr8:144892692:C:T 4893_1487_496_C->Y 0.000199681 629 chr8:144892902:G:A 4893_1358_453_A->V 0.000199681 629 chr8:144892941:G:A 4893_1319_440_A->V 0.00259585 629 chr8:144892984:C:T 4893_1276_426_D->N 0.00519169 629 chr8:144893079:G:A 4893_1270_424_L->F 0.000199681 629 chr8:144893084:G:A 4893_1265_422_P->L 0.465855 629 chr8:144893145:C:T 4893_1204_402_D->N 0.000399361 629 chr8:144893150:G:A 4893_1199_400_T->M 0.000199681 629 chr8:144893317:G:A 4893_1105_369_R->C 0.00119808 629 chr8:144893368:G:A 4893_1054_352_P->S 0.000199681 629 chr8:144893425:C:T 4893_997_333_G->S 0.000798722 629 chr8:144893460:C:T 4893_962_321_R->Q 0.000199681 629 chr8:144893484:T:G 4893_938_313_K->T 0.000199681 629 chr8:144894441:G:C 4893_901_301_L->V 0.000399361 629 chr8:144894452:G:C 4893_890_297_T->R 0.000798722 629 chr8:144894525:C:T 4893_817_273_V->I 0.000199681 629 chr8:144894996:C:T 4893_778_260_D->N 0.000199681 629 chr8:144895053:C:T 4893_721_241_G->R 0.000199681 629 chr8:144895495:C:T 4893_553_185_D->N 0.000399361 629 chr8:144895688:T:C 4893_455_152_N->S 0.000399361 629 chr8:144895820:C:T 4893_433_145_G->R 0.000399361 629 chr8:144895837:G:A 4893_416_139_S->F 0.000199681 629 chr8:144896015:G:A 4893_329_110_A->V 0.000199681 629 chr8:144896066:T:G 4893_278_93_D->A 0.000199681 629 chr8:144896183:C:T 4893_265_89_V->M 0.000199681 629 chr8:144897439:C:T 4893_104_35_S->N 0.000199681 629 chr8:144897466:G:A 4893_77_26_A->V 0.000199681 629 na12878 Variants: 629 chr8:144893084:G:A 4893_1265_422_P->L 629 chr8:144886809:C:T 4893_2938_980_G->R 629 snyder Variants: 629 chr8:144893084:G:A 4893_1265_422_P->L 629 chr8:144891768:C:T 4893_1651_551_A->T 630 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180900_ENST00000377533 gene_Name: SCRIB_HUMAN 630 list of pdbs: 630 2W4F pdb_description: 09-Dec-08 X-ray 1.300 Crystal structure of the first pdz domain of human scrib1 630 1X5Q pdb_description: 16-Nov-05 NMR 20 Solution structure of the first pdz domain of scribble homolog protein (hscrib) 630 1WHA pdb_description: 28-Nov-04 NMR 20 Solution structure of the second pdz domain of human scribble (kiaa0147 protein). 630 1UJU pdb_description: 11-Feb-04 NMR 20 Solution structure of the fourth pdz domain of human scribble (kiaa0147 protein) 630 Zimmer Variants: 630 chr8:144893084:G:A 4650_1022_341_P->L;GENE=SCRIB;CDSS=2 630 chr8:144895820:C:T 4650_190_64_G->R;GENE=SCRIB;CDSS=2 630 HGMD Variants: 630 chr8:144874214:C:T 4650_4361_1454_R->Q 630 chr8:144874259:A:C 4650_4316_1439_L->R 630 chr8:144875168:G:A 4650_3752_1251_P->L 630 chr8:144875220:C:T 4650_3700_1234_A->T 630 chr8:144886103:G:A 4650_2885_962_P->L 630 chr8:144891120:G:A 4650_1531_511_P->S 630 chr8:144891764:G:A 4650_1412_471_T->M 630 chr8:144893326:C:T 4650_853_285_A->T 630 oneKG Variants: 630 chr8:144873359:G:A 4650_4624_1542_R->C 0.000599042 630 chr8:144873379:C:T 4650_4604_1535_R->H 0.000399361 630 chr8:144873407:C:G 4650_4576_1526_E->Q 0.000399361 630 chr8:144873421:C:T 4650_4562_1521_G->D 0.000199681 630 chr8:144873475:G:A 4650_4508_1503_P->L 0.00439297 630 chr8:144873606:G:A 4650_4457_1486_P->L 0.000599042 630 chr8:144874078:C:T 4650_4420_1474_G->S 0.0317492 630 chr8:144874274:C:T 4650_4301_1434_R->Q 0.000599042 630 chr8:144874555:G:C 4650_4106_1369_P->R 0.000399361 630 chr8:144874562:A:G 4650_4099_1367_S->P 0.000399361 630 chr8:144874710:C:T 4650_4030_1344_E->K 0.000998403 630 chr8:144874725:C:T 4650_4015_1339_G->R 0.000199681 630 chr8:144874959:G:A 4650_3853_1285_R->C 0.000199681 630 chr8:144874992:G:A 4650_3820_1274_R->W 0.000798722 630 chr8:144875154:G:A 4650_3766_1256_P->S 0.00179712 630 chr8:144875168:G:A 4650_3752_1251_P->L 0.00199681 630 chr8:144875184:C:T 4650_3736_1246_V->M 0.000798722 630 chr8:144876123:C:G 4650_3613_1205_G->R 0.000798722 630 chr8:144876126:A:G 4650_3610_1204_S->P 0.000399361 630 chr8:144877225:C:T 4650_3586_1196_A->T 0.000399361 630 chr8:144877245:G:C 4650_3566_1189_A->G 0.000599042 630 chr8:144877248:C:T 4650_3563_1188_R->H 0.000199681 630 chr8:144877449:C:A 4650_3526_1176_A->S 0.000199681 630 chr8:144877497:C:T 4650_3478_1160_E->K 0.000199681 630 chr8:144877654:T:G 4650_3407_1136_H->P 0.0109824 630 chr8:144877657:C:A 4650_3404_1135_G->V 0.000199681 630 chr8:144877658:C:T 4650_3403_1135_G->S 0.000199681 630 chr8:144885564:C:T 4650_3349_1117_A->T 0.000399361 630 chr8:144885608:G:A 4650_3305_1102_T->I 0.000199681 630 chr8:144885650:G:A 4650_3263_1088_T->M 0.000199681 630 chr8:144885669:G:C 4650_3244_1082_Q->E 0.00339457 630 chr8:144885701:C:T 4650_3212_1071_R->H 0.00259585 630 chr8:144885849:C:T 4650_3139_1047_D->N 0.000199681 630 chr8:144885864:C:T 4650_3124_1042_A->T 0.000399361 630 chr8:144885908:C:T 4650_3080_1027_G->E 0.000599042 630 chr8:144886005:T:C 4650_2983_995_S->G 0.000199681 630 chr8:144886085:C:A 4650_2903_968_R->L 0.000199681 630 chr8:144886086:G:A 4650_2902_968_R->C 0.000399361 630 chr8:144886101:G:A 4650_2887_963_R->W 0.000399361 630 chr8:144886269:C:T 4650_2824_942_D->N 0.00239617 630 chr8:144886752:G:C 4650_2752_918_P->A 0.000199681 630 chr8:144886754:C:T 4650_2750_917_G->E 0.000798722 630 chr8:144886758:C:G 4650_2746_916_E->Q 0.000199681 630 chr8:144886764:C:G 4650_2740_914_A->P 0.000199681 630 chr8:144886809:C:T 4650_2695_899_G->R 0.0972444 630 chr8:144886814:G:A 4650_2690_897_T->I 0.000199681 630 chr8:144886972:C:G 4650_2532_844_E->D 0.000199681 630 chr8:144887160:C:T 4650_2452_818_E->K 0.000399361 630 chr8:144887368:C:T 4650_2341_781_V->M 0.000199681 630 chr8:144887428:C:T 4650_2281_761_G->R 0.00119808 630 chr8:144888599:C:T 4650_2081_694_R->H 0.000199681 630 chr8:144888611:C:T 4650_2069_690_R->Q 0.000199681 630 chr8:144888612:G:A 4650_2068_690_R->W 0.000199681 630 chr8:144888645:T:C 4650_2035_679_I->V 0.000199681 630 chr8:144889179:G:A 4650_1940_647_T->I 0.000599042 630 chr8:144890802:C:G 4650_1849_617_V->L 0.000199681 630 chr8:144890873:A:T 4650_1778_593_V->E 0.0 630 chr8:144890877:C:T 4650_1774_592_E->K 0.000199681 630 chr8:144890907:C:T 4650_1744_582_E->K 0.000399361 630 chr8:144890943:C:T 4650_1708_570_A->T 0.000199681 630 chr8:144890957:T:A 4650_1694_565_H->L 0.000399361 630 chr8:144890963:C:A 4650_1688_563_G->V 0.000798722 630 chr8:144890976:C:T 4650_1675_559_V->M 0.000199681 630 chr8:144891150:T:C 4650_1501_501_R->G 0.000199681 630 chr8:144891185:T:C 4650_1466_489_H->R 0.000199681 630 chr8:144891195:G:A 4650_1456_486_P->S 0.000199681 630 chr8:144891764:G:A 4650_1412_471_T->M 0.000199681 630 chr8:144891768:C:T 4650_1408_470_A->T 0.0177716 630 chr8:144891810:C:T 4650_1366_456_E->K 0.000199681 630 chr8:144891813:G:C 4650_1363_455_P->A 0.000199681 630 chr8:144891881:C:T 4650_1295_432_R->Q 0.000399361 630 chr8:144892659:G:A 4650_1277_426_P->L 0.000199681 630 chr8:144892682:C:A 4650_1254_418_Q->H 0.000199681 630 chr8:144892692:C:T 4650_1244_415_C->Y 0.000199681 630 chr8:144892902:G:A 4650_1115_372_A->V 0.000199681 630 chr8:144892941:G:A 4650_1076_359_A->V 0.00259585 630 chr8:144892984:C:T 4650_1033_345_D->N 0.00519169 630 chr8:144893079:G:A 4650_1027_343_L->F 0.000199681 630 chr8:144893084:G:A 4650_1022_341_P->L 0.465855 630 chr8:144893145:C:T 4650_961_321_D->N 0.000399361 630 chr8:144893150:G:A 4650_956_319_T->M 0.000199681 630 chr8:144893317:G:A 4650_862_288_R->C 0.00119808 630 chr8:144893368:G:A 4650_811_271_P->S 0.000199681 630 chr8:144893425:C:T 4650_754_252_G->S 0.000798722 630 chr8:144893460:C:T 4650_719_240_R->Q 0.000199681 630 chr8:144893484:T:G 4650_695_232_K->T 0.000199681 630 chr8:144894441:G:C 4650_658_220_L->V 0.000399361 630 chr8:144894452:G:C 4650_647_216_T->R 0.000798722 630 chr8:144894525:C:T 4650_574_192_V->I 0.000199681 630 chr8:144894996:C:T 4650_535_179_D->N 0.000199681 630 chr8:144895053:C:T 4650_478_160_G->R 0.000199681 630 chr8:144895495:C:T 4650_310_104_D->N 0.000399361 630 chr8:144895688:T:C 4650_212_71_N->S 0.000399361 630 chr8:144895820:C:T 4650_190_64_G->R 0.000399361 630 chr8:144895837:G:A 4650_173_58_S->F 0.000199681 630 chr8:144896015:G:A 4650_86_29_A->V 0.000199681 630 chr8:144896066:T:G 4650_35_12_D->A 0.000199681 630 chr8:144896183:C:T 4650_22_8_V->M 0.000199681 630 na12878 Variants: 630 chr8:144893084:G:A 4650_1022_341_P->L 630 chr8:144886809:C:T 4650_2695_899_G->R 630 snyder Variants: 630 chr8:144893084:G:A 4650_1022_341_P->L 630 chr8:144891768:C:T 4650_1408_470_A->T 631 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000156006_ENST00000286479 gene_Name: ARY2_HUMAN 631 list of pdbs: 631 2PFR pdb_description: 15-May-07 X-ray 1.920 Human n-acetyltransferase 2 631 Zimmer Variants: 631 chr8:18258103:G:A 873_590_197_R->Q 631 chr8:18257854:T:C 873_341_114_I->T;GENE=NAT2;CDSS=1 631 chr8:18258316:G:A 873_803_268_R->K 631 HGMD Variants: 631 chr8:18257583:T:A 873_70_24_L->I 631 chr8:18257703:C:T 873_190_64_R->W 631 chr8:18257704:G:A 873_191_64_R->Q 631 chr8:18257854:T:C 873_341_114_I->T 631 chr8:18257877:G:A 873_364_122_D->N 631 chr8:18257924:A:T 873_411_137_L->F 631 chr8:18257947:A:C 873_434_145_Q->P 631 chr8:18258012:G:A 873_499_167_E->K 631 chr8:18258091:C:T 873_578_193_T->M 631 chr8:18258103:G:A 873_590_197_R->Q 631 chr8:18258135:T:C 873_622_208_Y->H 631 chr8:18258316:G:A 873_803_268_R->K 631 chr8:18258358:A:C 873_845_282_K->T 631 chr8:18258370:G:A 873_857_286_G->E 631 oneKG Variants: 631 chr8:18257520:A:G 873_7_3_I->V 0.000199681 631 chr8:18257542:T:C 873_29_10_I->T 0.000399361 631 chr8:18257564:C:G 873_51_17_N->K 0.000199681 631 chr8:18257571:G:T 873_58_20_D->Y 0.000199681 631 chr8:18257583:T:A 873_70_24_L->I 0.000599042 631 chr8:18257634:A:T 873_121_41_N->Y 0.000199681 631 chr8:18257704:G:A 873_191_64_R->Q 0.0277556 631 chr8:18257761:G:C 873_248_83_G->A 0.000199681 631 chr8:18257834:C:A 873_321_107_H->Q 0.000199681 631 chr8:18257854:T:C 873_341_114_I->T 0.292732 631 chr8:18257859:G:A 873_346_116_G->S 0.000199681 631 chr8:18257916:C:G 873_403_135_L->V 0.00638978 631 chr8:18257985:A:C 873_472_158_I->L 0.000798722 631 chr8:18257988:T:A 873_475_159_W->R 0.000199681 631 chr8:18258004:T:C 873_491_164_I->T 0.000199681 631 chr8:18258012:G:A 873_499_167_E->K 0.000199681 631 chr8:18258019:A:G 873_506_169_Y->C 0.000199681 631 chr8:18258049:A:G 873_536_179_H->R 0.000199681 631 chr8:18258079:T:C 873_566_189_I->T 0.000199681 631 chr8:18258091:C:T 873_578_193_T->M 0.00179712 631 chr8:18258103:G:A 873_590_197_R->Q 0.264976 631 chr8:18258122:G:T 873_609_203_E->D 0.00279553 631 chr8:18258126:A:T 873_613_205_M->L 0.000199681 631 chr8:18258135:T:C 873_622_208_Y->H 0.000199681 631 chr8:18258151:C:T 873_638_213_P->L 0.000599042 631 chr8:18258163:T:A 873_650_217_F->Y 0.000199681 631 chr8:18258196:C:T 873_683_228_P->L 0.00179712 631 chr8:18258279:A:G 873_766_256_K->E 0.00159744 631 chr8:18258309:G:A 873_796_266_V->M 0.000199681 631 chr8:18258316:G:A 873_803_268_R->K 0.322883 631 chr8:18258351:G:A 873_838_280_V->M 0.00938498 631 chr8:18258370:G:A 873_857_286_G->E 0.0772764 631 na12878 Variants: 631 chr8:18257854:T:C 873_341_114_I->T 631 chr8:18258316:G:A 873_803_268_R->K 631 snyder Variants: 631 chr8:18258103:G:A 873_590_197_R->Q 631 chr8:18258316:G:A 873_803_268_R->K 631 chr8:18258370:G:A 873_857_286_G->E 632 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000147316_ENST00000519480 gene_Name: MCPH1_HUMAN 632 list of pdbs: 632 3SHT pdb_description: 28-Dec-11 X-ray 1.950 Crystal structure of human mcph1 tandem brct domains 632 3PA6 pdb_description: 08-Dec-10 X-ray 1.500 Structure of the n-terminal brct domain of human microcephal 632 3KTF pdb_description: 15-Dec-09 X-ray 1.600 Structure of the n-terminal brct domain of human microcephalin (mcph1). 632 2WT8 pdb_description: 01-Dec-09 X-ray 1.600 Structure of the n-terminal brct domain of human microcephalin (mcph1) 632 3U3Z pdb_description: 25-Jul-12 X-ray 1.500 Structure of human microcephalin (mcph1) tandem brct domains complex with an h2a.X peptide phosphorylated at ser139 and 632 3SZM pdb_description: 30-Nov-11 X-ray 2.630 Structure of human microcephalin (mcph1) tandem brct domains complex with a gamma-h2ax phosphopeptide 632 3SHV pdb_description: 28-Dec-11 X-ray 2.100 Crystal structure of human mcph1 tandem brct domains-gamma h complex 632 3T1N pdb_description: 30-Nov-11 X-ray 2.600 Structure of human microcephalin (mcph1) tandem brct domains complex with a cdc27 phosphopeptide 632 Zimmer Variants: 632 chr8:6302183:G:C 1833_940_314_D->H 632 chr8:6296550:G:T 1833_513_171_R->S;GENE=MCPH1;CANG=[DNA_repair];CDSS=1;DBRECUR=MCPH1 632 chr8:6302154:G:T 1833_911_304_R->I 632 chr8:6302418:A:G 1833_1175_392_D->G 632 HGMD Variants: 632 chr8:6266851:C:G 1833_74_25_S->* 632 chr8:6272307:C:T 1833_136_46_Q->* 632 chr8:6289088:C:G 1833_302_101_S->* 632 chr8:6266857:C:G 1833_80_27_T->R 632 chr8:6272318:C:G 1833_147_49_H->Q 632 chr8:6272386:C:T 1833_215_72_S->L 632 chr8:6272394:T:C 1833_223_75_W->R 632 oneKG Variants: 632 chr8:6302804:G:T 1833_1561_521_E->* 0.000399361 632 chr8:6266838:A:G 1833_61_21_T->A 0.000399361 632 chr8:6272293:A:G 1833_122_41_K->R 0.000199681 632 chr8:6272320:T:G 1833_149_50_V->G 0.000199681 632 chr8:6272322:A:G 1833_151_51_I->V 0.000199681 632 chr8:6272353:A:G 1833_182_61_D->G 0.000399361 632 chr8:6272370:G:C 1833_199_67_G->R 0.000998403 632 chr8:6289091:G:C 1833_305_102_S->T 0.00199681 632 chr8:6293591:A:T 1833_344_115_D->V 0.000199681 632 chr8:6293618:A:G 1833_371_124_D->G 0.000199681 632 chr8:6296481:T:G 1833_444_148_D->E 0.00159744 632 chr8:6296482:G:A 1833_445_149_V->I 0.000399361 632 chr8:6296528:C:G 1833_491_164_P->R 0.000199681 632 chr8:6296542:A:T 1833_505_169_N->Y 0.000399361 632 chr8:6296550:G:T 1833_513_171_R->S 0.083067 632 chr8:6296567:A:C 1833_530_177_E->A 0.000199681 632 chr8:6299623:A:G 1833_616_206_S->G 0.000199681 632 chr8:6299641:G:A 1833_634_212_A->T 0.0185703 632 chr8:6299654:T:C 1833_647_216_I->T 0.00838658 632 chr8:6299671:T:C 1833_664_222_C->R 0.000199681 632 chr8:6301929:G:C 1833_686_229_G->A 0.000199681 632 chr8:6301980:A:T 1833_737_246_N->I 0.000199681 632 chr8:6302026:T:A 1833_783_261_D->E 0.000199681 632 chr8:6302033:A:G 1833_790_264_I->V 0.043131 632 chr8:6302102:A:C 1833_859_287_S->R 0.000798722 632 chr8:6302106:C:A 1833_863_288_P->H 0.0692891 632 chr8:6302154:G:T 1833_911_304_R->I 0.0702875 632 chr8:6302171:G:A 1833_928_310_V->I 0.000199681 632 chr8:6302178:C:A 1833_935_312_T->N 0.000399361 632 chr8:6302183:G:C 1833_940_314_D->H 0.355232 632 chr8:6302221:T:A 1833_978_326_F->L 0.000199681 632 chr8:6302232:A:G 1833_989_330_Y->C 0.00479233 632 chr8:6302279:C:A 1833_1036_346_H->N 0.000199681 632 chr8:6302293:G:C 1833_1050_350_R->S 0.000199681 632 chr8:6302295:G:T 1833_1052_351_S->I 0.000599042 632 chr8:6302298:C:T 1833_1055_352_S->F 0.000399361 632 chr8:6302304:T:C 1833_1061_354_V->A 0.000199681 632 chr8:6302343:C:G 1833_1100_367_P->R 0.000199681 632 chr8:6302391:C:T 1833_1148_383_P->L 0.000199681 632 chr8:6302412:C:T 1833_1169_390_S->L 0.000399361 632 chr8:6302418:A:G 1833_1175_392_D->G 0.005591 632 chr8:6302432:G:A 1833_1189_397_V->M 0.000599042 632 chr8:6302457:T:C 1833_1214_405_L->P 0.000798722 632 chr8:6302487:A:C 1833_1244_415_Y->S 0.000199681 632 chr8:6302515:G:C 1833_1272_424_R->S 0.000199681 632 chr8:6302516:T:A 1833_1273_425_Y->N 0.000199681 632 chr8:6302531:C:T 1833_1288_430_P->S 0.000199681 632 chr8:6302592:A:C 1833_1349_450_K->T 0.000599042 632 chr8:6302594:G:A 1833_1351_451_E->K 0.00379393 632 chr8:6302633:G:A 1833_1390_464_V->I 0.00159744 632 chr8:6302646:C:A 1833_1403_468_T->N 0.00119808 632 chr8:6302697:G:A 1833_1454_485_R->Q 0.000199681 632 chr8:6302723:G:A 1833_1480_494_A->T 0.000199681 632 chr8:6302730:C:T 1833_1487_496_S->L 0.000199681 632 chr8:6302738:G:A 1833_1495_499_V->M 0.00319489 632 chr8:6302739:T:A 1833_1496_499_V->E 0.000199681 632 chr8:6302907:C:T 1833_1664_555_A->V 0.000399361 632 chr8:6302972:G:A 1833_1729_577_E->K 0.0 632 chr8:6302981:A:G 1833_1738_580_S->G 0.0103834 632 chr8:6303002:A:G 1833_1759_587_I->V 0.000599042 632 chr8:6303024:C:T 1833_1781_594_T->M 0.00359425 632 chr8:6303050:C:A 1833_1807_603_P->T 0.0 632 na12878 Variants: 632 chr8:6302183:G:C 1833_940_314_D->H 632 chr8:6296550:G:T 1833_513_171_R->S 632 chr8:6302418:A:G 1833_1175_392_D->G 632 snyder Variants: 632 chr8:6302183:G:C 1833_940_314_D->H 632 chr8:6296550:G:T 1833_513_171_R->S 632 chr8:6302418:A:G 1833_1175_392_D->G 633 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000147316_ENST00000522905 gene_Name: MCPH1_HUMAN 633 list of pdbs: 633 3SHT pdb_description: 28-Dec-11 X-ray 1.950 Crystal structure of human mcph1 tandem brct domains 633 3PA6 pdb_description: 08-Dec-10 X-ray 1.500 Structure of the n-terminal brct domain of human microcephal 633 3KTF pdb_description: 15-Dec-09 X-ray 1.600 Structure of the n-terminal brct domain of human microcephalin (mcph1). 633 2WT8 pdb_description: 01-Dec-09 X-ray 1.600 Structure of the n-terminal brct domain of human microcephalin (mcph1) 633 3U3Z pdb_description: 25-Jul-12 X-ray 1.500 Structure of human microcephalin (mcph1) tandem brct domains complex with an h2a.X peptide phosphorylated at ser139 and 633 3SZM pdb_description: 30-Nov-11 X-ray 2.630 Structure of human microcephalin (mcph1) tandem brct domains complex with a gamma-h2ax phosphopeptide 633 3SHV pdb_description: 28-Dec-11 X-ray 2.100 Crystal structure of human mcph1 tandem brct domains-gamma h complex 633 3T1N pdb_description: 30-Nov-11 X-ray 2.600 Structure of human microcephalin (mcph1) tandem brct domains complex with a cdc27 phosphopeptide 633 Zimmer Variants: 633 chr8:6302183:G:C 1689_796_266_D->H;GENE=MCPH1;CANG=[DNA_repair];CDSS=2;DBRECUR=MCPH1 633 chr8:6302154:G:T 1689_767_256_R->I;GENE=MCPH1;CANG=[DNA_repair];CDSS=1;DBRECUR=MCPH1 633 chr8:6302418:A:G 1689_1031_344_D->G;GENE=MCPH1;CANG=[DNA_repair];CDSS=1;DBRECUR=MCPH1 633 HGMD Variants: 633 chr8:6266851:C:G 1689_74_25_S->* 633 chr8:6272307:C:T 1689_136_46_Q->* 633 chr8:6289088:C:G 1689_302_101_S->* 633 chr8:6266857:C:G 1689_80_27_T->R 633 chr8:6272318:C:G 1689_147_49_H->Q 633 chr8:6272386:C:T 1689_215_72_S->L 633 chr8:6272394:T:C 1689_223_75_W->R 633 oneKG Variants: 633 chr8:6302804:G:T 1689_1417_473_E->* 0.000399361 633 chr8:6266838:A:G 1689_61_21_T->A 0.000399361 633 chr8:6272293:A:G 1689_122_41_K->R 0.000199681 633 chr8:6272320:T:G 1689_149_50_V->G 0.000199681 633 chr8:6272322:A:G 1689_151_51_I->V 0.000199681 633 chr8:6272353:A:G 1689_182_61_D->G 0.000399361 633 chr8:6272370:G:C 1689_199_67_G->R 0.000998403 633 chr8:6289091:G:C 1689_305_102_S->T 0.00199681 633 chr8:6293591:A:T 1689_344_115_D->V 0.000199681 633 chr8:6293618:A:G 1689_371_124_D->G 0.000199681 633 chr8:6299623:A:G 1689_472_158_S->G 0.000199681 633 chr8:6299641:G:A 1689_490_164_A->T 0.0185703 633 chr8:6299654:T:C 1689_503_168_I->T 0.00838658 633 chr8:6299671:T:C 1689_520_174_C->R 0.000199681 633 chr8:6301929:G:C 1689_542_181_G->A 0.000199681 633 chr8:6301980:A:T 1689_593_198_N->I 0.000199681 633 chr8:6302026:T:A 1689_639_213_D->E 0.000199681 633 chr8:6302033:A:G 1689_646_216_I->V 0.043131 633 chr8:6302102:A:C 1689_715_239_S->R 0.000798722 633 chr8:6302106:C:A 1689_719_240_P->H 0.0692891 633 chr8:6302154:G:T 1689_767_256_R->I 0.0702875 633 chr8:6302171:G:A 1689_784_262_V->I 0.000199681 633 chr8:6302178:C:A 1689_791_264_T->N 0.000399361 633 chr8:6302183:G:C 1689_796_266_D->H 0.355232 633 chr8:6302221:T:A 1689_834_278_F->L 0.000199681 633 chr8:6302232:A:G 1689_845_282_Y->C 0.00479233 633 chr8:6302279:C:A 1689_892_298_H->N 0.000199681 633 chr8:6302293:G:C 1689_906_302_R->S 0.000199681 633 chr8:6302295:G:T 1689_908_303_S->I 0.000599042 633 chr8:6302298:C:T 1689_911_304_S->F 0.000399361 633 chr8:6302304:T:C 1689_917_306_V->A 0.000199681 633 chr8:6302343:C:G 1689_956_319_P->R 0.000199681 633 chr8:6302391:C:T 1689_1004_335_P->L 0.000199681 633 chr8:6302412:C:T 1689_1025_342_S->L 0.000399361 633 chr8:6302418:A:G 1689_1031_344_D->G 0.005591 633 chr8:6302432:G:A 1689_1045_349_V->M 0.000599042 633 chr8:6302457:T:C 1689_1070_357_L->P 0.000798722 633 chr8:6302487:A:C 1689_1100_367_Y->S 0.000199681 633 chr8:6302515:G:C 1689_1128_376_R->S 0.000199681 633 chr8:6302516:T:A 1689_1129_377_Y->N 0.000199681 633 chr8:6302531:C:T 1689_1144_382_P->S 0.000199681 633 chr8:6302592:A:C 1689_1205_402_K->T 0.000599042 633 chr8:6302594:G:A 1689_1207_403_E->K 0.00379393 633 chr8:6302633:G:A 1689_1246_416_V->I 0.00159744 633 chr8:6302646:C:A 1689_1259_420_T->N 0.00119808 633 chr8:6302697:G:A 1689_1310_437_R->Q 0.000199681 633 chr8:6302723:G:A 1689_1336_446_A->T 0.000199681 633 chr8:6302730:C:T 1689_1343_448_S->L 0.000199681 633 chr8:6302738:G:A 1689_1351_451_V->M 0.00319489 633 chr8:6302739:T:A 1689_1352_451_V->E 0.000199681 633 chr8:6302907:C:T 1689_1520_507_A->V 0.000399361 633 chr8:6302972:G:A 1689_1585_529_E->K 0.0 633 chr8:6302981:A:G 1689_1594_532_S->G 0.0103834 633 chr8:6303002:A:G 1689_1615_539_I->V 0.000599042 633 chr8:6303024:C:T 1689_1637_546_T->M 0.00359425 633 chr8:6303050:C:A 1689_1663_555_P->T 0.0 633 na12878 Variants: 633 chr8:6302183:G:C 1689_796_266_D->H 633 chr8:6302418:A:G 1689_1031_344_D->G 633 snyder Variants: 633 chr8:6302183:G:C 1689_796_266_D->H 633 chr8:6302418:A:G 1689_1031_344_D->G 634 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000136928_ENST00000259455 gene_Name: GABR2_HUMAN 634 list of pdbs: 634 4F12 pdb_description: 06-Jun-12 X-ray 3.020 Crystal structure of the extracellular domain of human gaba( receptor gbr2 634 4F11 pdb_description: 06-Jun-12 X-ray 2.380 Crystal structure of the extracellular domain of human gaba( receptor gbr2 634 Zimmer Variants: 634 chr9:101056122:T:C 2826_2605_869_T->A;GNEG=Yes;GENE=GABBR2;CDSS=2;DBRECUR=GABBR2 634 HGMD Variants: 634 chr9:101068407:G:T 2826_2225_742_P->Q 634 chr9:101068518:A:T 2826_2114_705_I->N 634 chr9:101068548:C:A 2826_2084_695_S->I 634 chr9:101068621:C:A 2826_2011_671_G->C 634 oneKG Variants: 634 chr9:101052916:G:A 2826_2776_926_R->C 0.000199681 634 chr9:101052937:C:T 2826_2755_919_V->I 0.000798722 634 chr9:101056109:C:T 2826_2618_873_R->Q 0.000199681 634 chr9:101056122:T:C 2826_2605_869_T->A 0.234625 634 chr9:101056152:C:T 2826_2575_859_D->N 0.000199681 634 chr9:101056165:T:A 2826_2562_854_L->F 0.000199681 634 chr9:101056181:C:T 2826_2546_849_G->E 0.000199681 634 chr9:101061509:T:G 2826_2539_847_T->P 0.000199681 634 chr9:101065575:C:T 2826_2360_787_R->H 0.000199681 634 chr9:101065617:G:A 2826_2318_773_T->M 0.000599042 634 chr9:101068528:T:G 2826_2104_702_M->L 0.000199681 634 chr9:101073460:T:C 2826_1921_641_I->V 0.000199681 634 chr9:101073471:C:T 2826_1910_637_R->Q 0.000199681 634 chr9:101125025:C:T 2826_1865_622_R->Q 0.000199681 634 chr9:101151157:T:C 2826_1508_503_N->S 0.000199681 634 chr9:101151281:C:T 2826_1384_462_E->K 0.000199681 634 chr9:101156496:C:T 2826_1339_447_D->N 0.000199681 634 chr9:101156505:C:T 2826_1330_444_A->T 0.000199681 634 chr9:101216277:A:T 2826_1222_408_F->I 0.000199681 634 chr9:101235448:T:A 2826_979_327_I->F 0.000199681 634 chr9:101235517:G:A 2826_910_304_R->W 0.000199681 634 chr9:101243227:T:G 2826_785_262_K->T 0.000199681 634 chr9:101243231:C:T 2826_781_261_A->T 0.000199681 634 chr9:101304172:C:T 2826_613_205_V->I 0.000199681 634 chr9:101304186:G:A 2826_599_200_T->M 0.000199681 634 chr9:101470818:C:T 2826_202_68_V->M 0.000199681 634 na12878 Variants: 634 chr9:101056122:T:C 2826_2605_869_T->A 634 snyder Variants: 634 chr9:101056122:T:C 2826_2605_869_T->A 635 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204291_ENST00000375001 gene_Name: COFA1_HUMAN 635 list of pdbs: 635 3N3F pdb_description: 20-Oct-10 X-ray 2.000 Crystal structure of the human collagen xv trimerization dom potent trimerizing unit common to multiplexin collagens 635 Zimmer Variants: 635 chr9:101748356:A:G 4167_610_204_M->V;GENE=COL15A1;CDSS=2 635 HGMD Variants: 635 chr9:101748234:G:A 4167_488_163_R->H 635 chr9:101748312:G:A 4167_566_189_R->Q 635 chr9:101748344:G:A 4167_598_200_A->T 635 chr9:101831995:G:A 4167_3994_1332_V->I 635 oneKG Variants: 635 chr9:101706454:G:T 4167_22_8_G->W 0.000199681 635 chr9:101747877:C:T 4167_131_44_T->M 0.000199681 635 chr9:101747885:A:G 4167_139_47_I->V 0.014976 635 chr9:101747888:G:A 4167_142_48_G->S 0.000199681 635 chr9:101747957:C:T 4167_211_71_P->S 0.000199681 635 chr9:101748054:G:A 4167_308_103_R->H 0.000199681 635 chr9:101748062:G:A 4167_316_106_V->M 0.000399361 635 chr9:101748216:T:G 4167_470_157_M->R 0.000199681 635 chr9:101748234:G:A 4167_488_163_R->H 0.244808 635 chr9:101748239:G:A 4167_493_165_A->T 0.000199681 635 chr9:101748312:G:A 4167_566_189_R->Q 0.000199681 635 chr9:101748317:T:C 4167_571_191_S->P 0.00778754 635 chr9:101748344:G:A 4167_598_200_A->T 0.00958466 635 chr9:101748356:A:G 4167_610_204_M->V 0.397165 635 chr9:101749597:G:A 4167_670_224_V->M 0.00698882 635 chr9:101751473:C:G 4167_737_246_T->S 0.000599042 635 chr9:101751491:C:T 4167_755_252_A->V 0.000199681 635 chr9:101751510:C:G 4167_774_258_I->M 0.000199681 635 chr9:101751524:C:T 4167_788_263_T->I 0.000199681 635 chr9:101759217:C:A 4167_806_269_P->H 0.000199681 635 chr9:101759281:G:A 4167_870_290_M->I 0.000199681 635 chr9:101759284:A:C 4167_873_291_E->D 0.000399361 635 chr9:101759336:A:G 4167_925_309_I->V 0.000199681 635 chr9:101763126:G:A 4167_958_320_G->S 0.000199681 635 chr9:101765814:C:T 4167_1145_382_T->I 0.000199681 635 chr9:101765840:A:T 4167_1171_391_T->S 0.000199681 635 chr9:101765841:C:T 4167_1172_391_T->M 0.0169728 635 chr9:101767228:G:A 4167_1249_417_E->K 0.00159744 635 chr9:101767245:G:A 4167_1266_422_M->I 0.0648962 635 chr9:101767303:G:A 4167_1324_442_A->T 0.0623003 635 chr9:101767315:G:A 4167_1336_446_G->R 0.160144 635 chr9:101777715:A:G 4167_1370_457_D->G 0.000199681 635 chr9:101777744:G:A 4167_1399_467_E->K 0.000998403 635 chr9:101777814:C:T 4167_1469_490_T->I 0.000199681 635 chr9:101778265:G:T 4167_1511_504_G->V 0.0852636 635 chr9:101778272:A:C,T 4167_1518_506_E->D,2 0.0638978 635 chr9:101778272:A:C,T 4167_1518_506_E->D 0.0638978 635 chr9:101778277:A:G 4167_1523_508_D->G 0.000199681 635 chr9:101778333:G:A 4167_1579_527_G->S 0.000199681 635 chr9:101778343:C:T 4167_1589_530_P->L 0.000199681 635 chr9:101778346:C:G 4167_1592_531_P->R 0.0565096 635 chr9:101782714:A:C 4167_1691_564_K->T 0.000199681 635 chr9:101784431:C:T 4167_1760_587_T->M 0.000399361 635 chr9:101785684:G:A 4167_1807_603_V->I 0.000399361 635 chr9:101787234:C:T 4167_1933_645_P->S 0.00339457 635 chr9:101787241:C:T 4167_1940_647_S->F 0.000199681 635 chr9:101787258:C:A 4167_1957_653_P->T 0.000199681 635 chr9:101787280:C:A,T 4167_1979_660_P->Q,2 0.00499201 635 chr9:101787280:C:A,T 4167_1979_660_P->L 0.00499201 635 chr9:101788219:A:G 4167_2014_672_T->A 0.000199681 635 chr9:101788231:G:A 4167_2026_676_G->R 0.000199681 635 chr9:101797315:G:T 4167_2099_700_G->V 0.000199681 635 chr9:101797330:C:T 4167_2114_705_P->L 0.00678914 635 chr9:101797341:G:A 4167_2125_709_G->R 0.000199681 635 chr9:101797356:C:T 4167_2140_714_P->S 0.00319489 635 chr9:101797399:C:G 4167_2183_728_P->R 0.000199681 635 chr9:101797434:G:A 4167_2218_740_E->K 0.000399361 635 chr9:101798477:G:A 4167_2315_772_R->Q 0.000199681 635 chr9:101801007:G:A 4167_2467_823_G->R 0.000199681 635 chr9:101804366:T:C 4167_2551_851_F->L 0.00319489 635 chr9:101806853:G:A 4167_2578_860_E->K 0.000599042 635 chr9:101806866:C:T 4167_2591_864_P->L 0.000599042 635 chr9:101807031:G:A 4167_2658_886_M->I 0.000199681 635 chr9:101807051:T:A 4167_2678_893_M->K 0.000199681 635 chr9:101810117:G:A 4167_2729_910_R->Q 0.000199681 635 chr9:101810226:C:T 4167_2737_913_R->C 0.000199681 635 chr9:101810271:G:A 4167_2782_928_V->I 0.000599042 635 chr9:101810277:A:G 4167_2788_930_M->V 0.000199681 635 chr9:101812005:C:G 4167_2827_943_P->A 0.000399361 635 chr9:101812154:G:A 4167_2881_961_V->I 0.00119808 635 chr9:101814679:G:T 4167_2914_972_A->S 0.000199681 635 chr9:101814707:C:T 4167_2942_981_T->I 0.000199681 635 chr9:101816858:G:A,C 4167_2951_984_G->D,2 0.000399361 635 chr9:101816858:G:A,C 4167_2951_984_G->A 0.000399361 635 chr9:101816873:A:G 4167_2966_989_K->R 0.0141773 635 chr9:101816905:G:A 4167_2998_1000_E->K 0.000199681 635 chr9:101816909:A:G 4167_3002_1001_K->R 0.0081869 635 chr9:101816923:G:C 4167_3016_1006_A->P 0.000199681 635 chr9:101817408:T:G 4167_3056_1019_L->R 0.000599042 635 chr9:101817556:G:A 4167_3094_1032_D->N 0.000199681 635 chr9:101817596:T:A 4167_3134_1045_I->N 0.000199681 635 chr9:101817602:G:A 4167_3140_1047_G->D 0.00199681 635 chr9:101817605:G:A 4167_3143_1048_S->N 0.000399361 635 chr9:101817637:G:A 4167_3175_1059_G->R 0.000599042 635 chr9:101817650:C:T 4167_3188_1063_P->L 0.00858626 635 chr9:101818543:G:A 4167_3194_1065_G->D 0.000199681 635 chr9:101818609:C:T 4167_3260_1087_P->L 0.000199681 635 chr9:101822221:G:A 4167_3388_1130_G->R 0.000199681 635 chr9:101824271:A:T 4167_3421_1141_M->L 0.000199681 635 chr9:101824293:C:T 4167_3443_1148_A->V 0.00199681 635 chr9:101824308:A:G 4167_3458_1153_E->G 0.000199681 635 chr9:101824352:C:T 4167_3502_1168_R->C 0.000199681 635 chr9:101824353:G:A 4167_3503_1168_R->H 0.0 635 chr9:101824531:G:A 4167_3536_1179_G->E 0.000199681 635 chr9:101824545:A:C 4167_3550_1184_I->L 0.000199681 635 chr9:101824554:G:A 4167_3559_1187_D->N 0.000399361 635 chr9:101824567:C:T 4167_3572_1191_P->L 0.000199681 635 chr9:101824569:C:T 4167_3574_1192_P->S 0.000399361 635 chr9:101824573:C:T 4167_3578_1193_A->V 0.000199681 635 chr9:101825372:C:T 4167_3632_1211_A->V 0.00539137 635 chr9:101830911:A:G 4167_3912_1304_I->M 0.00139776 635 chr9:101830933:A:C 4167_3934_1312_I->L 0.00459265 635 chr9:101831995:G:A 4167_3994_1332_V->I 0.182508 635 chr9:101831998:C:T 4167_3997_1333_R->C 0.000199681 635 chr9:101832029:G:A 4167_4028_1343_R->Q 0.000199681 635 chr9:101832035:C:T 4167_4034_1345_A->V 0.000199681 635 chr9:101832050:C:T 4167_4049_1350_T->M 0.000199681 635 chr9:101832065:C:T 4167_4064_1355_P->L 0.000199681 635 chr9:101832157:G:A 4167_4156_1386_A->T 0.000399361 635 na12878 Variants: 635 chr9:101748356:A:G 4167_610_204_M->V 635 chr9:101797330:C:T 4167_2114_705_P->L 635 snyder Variants: 635 chr9:101778346:C:G 4167_1592_531_P->R 636 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095397_ENST00000265134 gene_Name: WHRN_HUMAN 636 list of pdbs: 636 1UFX pdb_description: 10-Dec-03 NMR 20 Solution structure of the third pdz domain of human kiaa1526 protein 636 1UF1 pdb_description: 22-Nov-03 NMR 20 Solution structure of the second pdz domain of human kiaa1526 protein 636 1UEZ pdb_description: 22-Nov-03 NMR 20 Solution structure of the first pdz domain of human kiaa1526 protein 636 Zimmer Variants: 636 chr9:117166338:G:C 1575_1107_369_H->Q 636 chr9:117170241:G:C 1575_535_179_P->A 636 chr9:117186712:C:T 1575_169_57_A->T 636 chr9:117166246:A:G 1575_1199_400_V->A 636 chr9:117169033:A:G 1575_689_230_M->T 636 HGMD Variants: 636 chr9:117166262:G:A 1575_1183_395_R->* 636 chr9:117186721:G:A 1575_160_54_Q->* 636 chr9:117186763:G:A 1575_118_40_R->* 636 chr9:117165114:G:T 1575_1495_499_R->S 636 chr9:117165216:T:C 1575_1393_465_R->G 636 chr9:117168637:C:T 1575_1085_362_R->H 636 chr9:117186691:C:G 1575_190_64_D->H 636 chr9:117186738:C:T 1575_143_48_R->Q 636 chr9:117188497:G:C 1575_11_4_S->W 636 oneKG Variants: 636 chr9:117186796:G:A 1575_85_29_Q->* 0.000199681 636 chr9:117165114:G:A 1575_1495_499_R->C 0.000599042 636 chr9:117165117:C:T 1575_1492_498_A->T 0.000199681 636 chr9:117165125:C:T 1575_1484_495_R->Q 0.000199681 636 chr9:117165126:G:A 1575_1483_495_R->W 0.000199681 636 chr9:117165146:G:A 1575_1463_488_T->M 0.000199681 636 chr9:117165171:C:T 1575_1438_480_V->M 0.000199681 636 chr9:117165172:G:T 1575_1437_479_H->Q 0.0167732 636 chr9:117165498:T:C 1575_1391_464_Q->R 0.000199681 636 chr9:117165502:T:C 1575_1387_463_I->V 0.000399361 636 chr9:117165514:T:C 1575_1375_459_R->G 0.000199681 636 chr9:117165528:C:T 1575_1361_454_R->H 0.000199681 636 chr9:117165564:G:C 1575_1325_442_T->S 0.000199681 636 chr9:117165577:T:G 1575_1312_438_K->Q 0.000199681 636 chr9:117165600:G:A 1575_1289_430_T->M 0.000798722 636 chr9:117166177:G:A 1575_1268_423_P->L 0.000599042 636 chr9:117166206:G:T 1575_1239_413_N->K 0.222444 636 chr9:117166210:C:T 1575_1235_412_R->Q 0.00179712 636 chr9:117166246:A:G 1575_1199_400_V->A 0.40635 636 chr9:117166295:C:A 1575_1150_384_D->Y 0.000199681 636 chr9:117166325:C:T 1575_1120_374_G->R 0.000199681 636 chr9:117166338:G:C 1575_1107_369_H->Q 0.008986 636 chr9:117168668:C:T 1575_1054_352_V->I 0.00119808 636 chr9:117168677:C:T 1575_1045_349_E->K 0.000199681 636 chr9:117168683:C:T 1575_1039_347_D->N 0.000199681 636 chr9:117168688:C:T 1575_1034_345_R->H 0.000599042 636 chr9:117168778:A:T 1575_944_315_V->E 0.000399361 636 chr9:117168811:G:A 1575_911_304_P->L 0.000199681 636 chr9:117168815:G:T 1575_907_303_P->T 0.000199681 636 chr9:117168833:A:G 1575_889_297_F->L 0.000399361 636 chr9:117168839:C:T 1575_883_295_G->S 0.000199681 636 chr9:117168872:C:T 1575_850_284_A->T 0.000199681 636 chr9:117168911:C:T 1575_811_271_V->I 0.000199681 636 chr9:117168928:G:T 1575_794_265_S->Y 0.000199681 636 chr9:117168941:C:G 1575_781_261_D->H 0.000399361 636 chr9:117168971:C:T 1575_751_251_A->T 0.000399361 636 chr9:117168979:G:A 1575_743_248_A->V 0.000798722 636 chr9:117168992:G:A 1575_730_244_R->C 0.000199681 636 chr9:117169001:G:A 1575_721_241_P->S 0.000998403 636 chr9:117169021:G:C 1575_701_234_S->W 0.000199681 636 chr9:117169033:A:G 1575_689_230_M->T 0.481629 636 chr9:117169121:G:A 1575_601_201_R->C 0.000199681 636 chr9:117169159:G:A 1575_563_188_S->F 0.000199681 636 chr9:117170229:C:G 1575_547_183_V->L 0.000399361 636 chr9:117170241:G:C 1575_535_179_P->A 0.0463259 636 chr9:117170247:C:T 1575_529_177_A->T 0.000199681 636 chr9:117185595:C:T 1575_476_159_R->K 0.000399361 636 chr9:117185601:G:A 1575_470_157_S->L 0.000399361 636 chr9:117185766:G:A 1575_305_102_P->L 0.00199681 636 chr9:117186640:A:G 1575_241_81_F->L 0.000199681 636 chr9:117186678:C:T 1575_203_68_G->D 0.00758786 636 chr9:117186681:C:T 1575_200_67_R->H 0.000199681 636 chr9:117186682:G:A 1575_199_67_R->C 0.000199681 636 chr9:117186699:T:C 1575_182_61_Y->C 0.000199681 636 chr9:117186712:C:T 1575_169_57_A->T 0.228235 636 chr9:117186793:C:T 1575_88_30_V->M 0.000199681 636 na12878 Variants: 636 chr9:117166338:G:C 1575_1107_369_H->Q 636 chr9:117170241:G:C 1575_535_179_P->A 636 chr9:117186712:C:T 1575_169_57_A->T 636 chr9:117166246:A:G 1575_1199_400_V->A 636 chr9:117169033:A:G 1575_689_230_M->T 636 snyder Variants: 636 chr9:117166338:G:C 1575_1107_369_H->Q 636 chr9:117169033:A:G 1575_689_230_M->T 637 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095397_ENST00000374059 gene_Name: WHRN_HUMAN 637 list of pdbs: 637 1UFX pdb_description: 10-Dec-03 NMR 20 Solution structure of the third pdz domain of human kiaa1526 protein 637 1UF1 pdb_description: 22-Nov-03 NMR 20 Solution structure of the second pdz domain of human kiaa1526 protein 637 1UEZ pdb_description: 22-Nov-03 NMR 20 Solution structure of the first pdz domain of human kiaa1526 protein 637 Zimmer Variants: 637 chr9:117166338:G:C 1671_1203_401_H->Q;GENE=DFNB31;CDSS=2 637 chr9:117170241:G:C 1671_631_211_P->A;GENE=DFNB31;CDSS=2 637 chr9:117186712:C:T 1671_265_89_A->T;GENE=DFNB31;CDSS=2 637 chr9:117166246:A:G 1671_1295_432_V->A;GENE=DFNB31;CDSS=1 637 chr9:117169033:A:G 1671_785_262_M->T;GENE=DFNB31;CDSS=1 637 HGMD Variants: 637 chr9:117166262:G:A 1671_1279_427_R->* 637 chr9:117186721:G:A 1671_256_86_Q->* 637 chr9:117186763:G:A 1671_214_72_R->* 637 chr9:117165114:G:T 1671_1591_531_R->S 637 chr9:117165216:T:C 1671_1489_497_R->G 637 chr9:117168637:C:T 1671_1181_394_R->H 637 chr9:117186691:C:G 1671_286_96_D->H 637 chr9:117186738:C:T 1671_239_80_R->Q 637 oneKG Variants: 637 chr9:117186796:G:A 1671_181_61_Q->* 0.000199681 637 chr9:117165114:G:A 1671_1591_531_R->C 0.000599042 637 chr9:117165117:C:T 1671_1588_530_A->T 0.000199681 637 chr9:117165125:C:T 1671_1580_527_R->Q 0.000199681 637 chr9:117165126:G:A 1671_1579_527_R->W 0.000199681 637 chr9:117165146:G:A 1671_1559_520_T->M 0.000199681 637 chr9:117165171:C:T 1671_1534_512_V->M 0.000199681 637 chr9:117165172:G:T 1671_1533_511_H->Q 0.0167732 637 chr9:117165498:T:C 1671_1487_496_Q->R 0.000199681 637 chr9:117165502:T:C 1671_1483_495_I->V 0.000399361 637 chr9:117165514:T:C 1671_1471_491_R->G 0.000199681 637 chr9:117165528:C:T 1671_1457_486_R->H 0.000199681 637 chr9:117165564:G:C 1671_1421_474_T->S 0.000199681 637 chr9:117165577:T:G 1671_1408_470_K->Q 0.000199681 637 chr9:117165600:G:A 1671_1385_462_T->M 0.000798722 637 chr9:117166177:G:A 1671_1364_455_P->L 0.000599042 637 chr9:117166206:G:T 1671_1335_445_N->K 0.222444 637 chr9:117166210:C:T 1671_1331_444_R->Q 0.00179712 637 chr9:117166246:A:G 1671_1295_432_V->A 0.40635 637 chr9:117166295:C:A 1671_1246_416_D->Y 0.000199681 637 chr9:117166325:C:T 1671_1216_406_G->R 0.000199681 637 chr9:117166338:G:C 1671_1203_401_H->Q 0.008986 637 chr9:117168668:C:T 1671_1150_384_V->I 0.00119808 637 chr9:117168677:C:T 1671_1141_381_E->K 0.000199681 637 chr9:117168683:C:T 1671_1135_379_D->N 0.000199681 637 chr9:117168688:C:T 1671_1130_377_R->H 0.000599042 637 chr9:117168778:A:T 1671_1040_347_V->E 0.000399361 637 chr9:117168811:G:A 1671_1007_336_P->L 0.000199681 637 chr9:117168815:G:T 1671_1003_335_P->T 0.000199681 637 chr9:117168833:A:G 1671_985_329_F->L 0.000399361 637 chr9:117168839:C:T 1671_979_327_G->S 0.000199681 637 chr9:117168872:C:T 1671_946_316_A->T 0.000199681 637 chr9:117168911:C:T 1671_907_303_V->I 0.000199681 637 chr9:117168928:G:T 1671_890_297_S->Y 0.000199681 637 chr9:117168941:C:G 1671_877_293_D->H 0.000399361 637 chr9:117168971:C:T 1671_847_283_A->T 0.000399361 637 chr9:117168979:G:A 1671_839_280_A->V 0.000798722 637 chr9:117168992:G:A 1671_826_276_R->C 0.000199681 637 chr9:117169001:G:A 1671_817_273_P->S 0.000998403 637 chr9:117169021:G:C 1671_797_266_S->W 0.000199681 637 chr9:117169033:A:G 1671_785_262_M->T 0.481629 637 chr9:117169121:G:A 1671_697_233_R->C 0.000199681 637 chr9:117169159:G:A 1671_659_220_S->F 0.000199681 637 chr9:117170229:C:G 1671_643_215_V->L 0.000399361 637 chr9:117170241:G:C 1671_631_211_P->A 0.0463259 637 chr9:117170247:C:T 1671_625_209_A->T 0.000199681 637 chr9:117185595:C:T 1671_572_191_R->K 0.000399361 637 chr9:117185601:G:A 1671_566_189_S->L 0.000399361 637 chr9:117185766:G:A 1671_401_134_P->L 0.00199681 637 chr9:117186640:A:G 1671_337_113_F->L 0.000199681 637 chr9:117186678:C:T 1671_299_100_G->D 0.00758786 637 chr9:117186681:C:T 1671_296_99_R->H 0.000199681 637 chr9:117186682:G:A 1671_295_99_R->C 0.000199681 637 chr9:117186699:T:C 1671_278_93_Y->C 0.000199681 637 chr9:117186712:C:T 1671_265_89_A->T 0.228235 637 chr9:117186793:C:T 1671_184_62_V->M 0.000199681 637 chr9:117187315:A:G 1671_103_35_F->L 0.000199681 637 chr9:117187410:C:A 1671_8_3_G->V 0.000199681 637 na12878 Variants: 637 chr9:117166338:G:C 1671_1203_401_H->Q 637 chr9:117170241:G:C 1671_631_211_P->A 637 chr9:117186712:C:T 1671_265_89_A->T 637 chr9:117166246:A:G 1671_1295_432_V->A 637 chr9:117169033:A:G 1671_785_262_M->T 637 snyder Variants: 637 chr9:117166338:G:C 1671_1203_401_H->Q 637 chr9:117169033:A:G 1671_785_262_M->T 638 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000095397_ENST00000362057 gene_Name: WHRN_HUMAN 638 list of pdbs: 638 1UFX pdb_description: 10-Dec-03 NMR 20 Solution structure of the third pdz domain of human kiaa1526 protein 638 1UF1 pdb_description: 22-Nov-03 NMR 20 Solution structure of the second pdz domain of human kiaa1526 protein 638 1UEZ pdb_description: 22-Nov-03 NMR 20 Solution structure of the first pdz domain of human kiaa1526 protein 638 Zimmer Variants: 638 chr9:117166338:G:C 2724_2256_752_H->Q 638 chr9:117170241:G:C 2724_1684_562_P->A 638 chr9:117186712:C:T 2724_1318_440_A->T 638 chr9:117188566:C:T 2724_1091_364_R->H;GENE=DFNB31;CDSS=2 638 chr9:117166246:A:G 2724_2348_783_V->A 638 chr9:117169033:A:G 2724_1838_613_M->T 638 HGMD Variants: 638 chr9:117166262:G:A 2724_2332_778_R->* 638 chr9:117186721:G:A 2724_1309_437_Q->* 638 chr9:117186763:G:A 2724_1267_423_R->* 638 chr9:117266775:G:A 2724_307_103_Q->* 638 chr9:117165114:G:T 2724_2644_882_R->S 638 chr9:117165216:T:C 2724_2542_848_R->G 638 chr9:117168637:C:T 2724_2234_745_R->H 638 chr9:117186691:C:G 2724_1339_447_D->H 638 chr9:117186738:C:T 2724_1292_431_R->Q 638 chr9:117188497:G:C 2724_1160_387_S->W 638 chr9:117188509:G:T 2724_1148_383_T->N 638 chr9:117188522:G:A 2724_1135_379_R->W 638 chr9:117188609:G:A 2724_1048_350_R->W 638 chr9:117267049:G:C 2724_33_11_S->R 638 oneKG Variants: 638 chr9:117186796:G:A 2724_1234_412_Q->* 0.000199681 638 chr9:117165114:G:A 2724_2644_882_R->C 0.000599042 638 chr9:117165117:C:T 2724_2641_881_A->T 0.000199681 638 chr9:117165125:C:T 2724_2633_878_R->Q 0.000199681 638 chr9:117165126:G:A 2724_2632_878_R->W 0.000199681 638 chr9:117165146:G:A 2724_2612_871_T->M 0.000199681 638 chr9:117165171:C:T 2724_2587_863_V->M 0.000199681 638 chr9:117165172:G:T 2724_2586_862_H->Q 0.0167732 638 chr9:117165498:T:C 2724_2540_847_Q->R 0.000199681 638 chr9:117165502:T:C 2724_2536_846_I->V 0.000399361 638 chr9:117165514:T:C 2724_2524_842_R->G 0.000199681 638 chr9:117165528:C:T 2724_2510_837_R->H 0.000199681 638 chr9:117165564:G:C 2724_2474_825_T->S 0.000199681 638 chr9:117165577:T:G 2724_2461_821_K->Q 0.000199681 638 chr9:117165600:G:A 2724_2438_813_T->M 0.000798722 638 chr9:117166177:G:A 2724_2417_806_P->L 0.000599042 638 chr9:117166206:G:T 2724_2388_796_N->K 0.222444 638 chr9:117166210:C:T 2724_2384_795_R->Q 0.00179712 638 chr9:117166246:A:G 2724_2348_783_V->A 0.40635 638 chr9:117166295:C:A 2724_2299_767_D->Y 0.000199681 638 chr9:117166325:C:T 2724_2269_757_G->R 0.000199681 638 chr9:117166338:G:C 2724_2256_752_H->Q 0.008986 638 chr9:117168668:C:T 2724_2203_735_V->I 0.00119808 638 chr9:117168677:C:T 2724_2194_732_E->K 0.000199681 638 chr9:117168683:C:T 2724_2188_730_D->N 0.000199681 638 chr9:117168688:C:T 2724_2183_728_R->H 0.000599042 638 chr9:117168778:A:T 2724_2093_698_V->E 0.000399361 638 chr9:117168811:G:A 2724_2060_687_P->L 0.000199681 638 chr9:117168815:G:T 2724_2056_686_P->T 0.000199681 638 chr9:117168833:A:G 2724_2038_680_F->L 0.000399361 638 chr9:117168839:C:T 2724_2032_678_G->S 0.000199681 638 chr9:117168872:C:T 2724_1999_667_A->T 0.000199681 638 chr9:117168911:C:T 2724_1960_654_V->I 0.000199681 638 chr9:117168928:G:T 2724_1943_648_S->Y 0.000199681 638 chr9:117168941:C:G 2724_1930_644_D->H 0.000399361 638 chr9:117168971:C:T 2724_1900_634_A->T 0.000399361 638 chr9:117168979:G:A 2724_1892_631_A->V 0.000798722 638 chr9:117168992:G:A 2724_1879_627_R->C 0.000199681 638 chr9:117169001:G:A 2724_1870_624_P->S 0.000998403 638 chr9:117169021:G:C 2724_1850_617_S->W 0.000199681 638 chr9:117169033:A:G 2724_1838_613_M->T 0.481629 638 chr9:117169121:G:A 2724_1750_584_R->C 0.000199681 638 chr9:117169159:G:A 2724_1712_571_S->F 0.000199681 638 chr9:117170229:C:G 2724_1696_566_V->L 0.000399361 638 chr9:117170241:G:C 2724_1684_562_P->A 0.0463259 638 chr9:117170247:C:T 2724_1678_560_A->T 0.000199681 638 chr9:117185595:C:T 2724_1625_542_R->K 0.000399361 638 chr9:117185601:G:A 2724_1619_540_S->L 0.000399361 638 chr9:117185766:G:A 2724_1454_485_P->L 0.00199681 638 chr9:117186640:A:G 2724_1390_464_F->L 0.000199681 638 chr9:117186678:C:T 2724_1352_451_G->D 0.00758786 638 chr9:117186681:C:T 2724_1349_450_R->H 0.000199681 638 chr9:117186682:G:A 2724_1348_450_R->C 0.000199681 638 chr9:117186699:T:C 2724_1331_444_Y->C 0.000199681 638 chr9:117186712:C:T 2724_1318_440_A->T 0.228235 638 chr9:117186793:C:T 2724_1237_413_V->M 0.000199681 638 chr9:117188509:G:T 2724_1148_383_T->N 0.000199681 638 chr9:117188522:G:A 2724_1135_379_R->W 0.00179712 638 chr9:117188531:C:T 2724_1126_376_A->T 0.000399361 638 chr9:117188561:G:A 2724_1096_366_R->C 0.000199681 638 chr9:117188566:C:T 2724_1091_364_R->H 0.022764 638 chr9:117188582:C:T 2724_1075_359_V->I 0.00199681 638 chr9:117188608:C:T 2724_1049_350_R->Q 0.000199681 638 chr9:117188609:G:A 2724_1048_350_R->W 0.00139776 638 chr9:117188662:C:T 2724_995_332_R->Q 0.000798722 638 chr9:117188663:G:A 2724_994_332_R->W 0.000199681 638 chr9:117188686:T:A 2724_971_324_D->V 0.000399361 638 chr9:117228627:G:A 2724_883_295_R->C 0.000199681 638 chr9:117228651:C:T 2724_859_287_G->S 0.000199681 638 chr9:117240906:C:T 2724_764_255_G->D 0.00479233 638 chr9:117240954:G:A 2724_716_239_P->L 0.000399361 638 chr9:117240960:A:T 2724_710_237_V->E 0.000199681 638 chr9:117240975:T:G 2724_695_232_H->P 0.000199681 638 chr9:117241002:C:T 2724_668_223_R->H 0.00838658 638 chr9:117241003:G:A 2724_667_223_R->C 0.00359425 638 chr9:117241051:C:A 2724_619_207_A->S 0.000199681 638 chr9:117266589:C:T 2724_493_165_G->S 0.000199681 638 chr9:117266607:C:G 2724_475_159_G->R 0.000199681 638 chr9:117266673:C:G 2724_409_137_E->Q 0.000798722 638 chr9:117266720:G:C 2724_362_121_P->R 0.000199681 638 chr9:117266853:T:A 2724_229_77_T->S 0.00698882 638 chr9:117266891:G:T 2724_191_64_A->D 0.000199681 638 chr9:117266943:T:C 2724_139_47_T->A 0.000199681 638 chr9:117266982:A:C 2724_100_34_L->V 0.00179712 638 chr9:117267049:G:C 2724_33_11_S->R 0.000599042 638 chr9:117267063:C:G 2724_19_7_G->R 0.00159744 638 na12878 Variants: 638 chr9:117166338:G:C 2724_2256_752_H->Q 638 chr9:117170241:G:C 2724_1684_562_P->A 638 chr9:117186712:C:T 2724_1318_440_A->T 638 chr9:117188566:C:T 2724_1091_364_R->H 638 chr9:117166246:A:G 2724_2348_783_V->A 638 chr9:117169033:A:G 2724_1838_613_M->T 638 snyder Variants: 638 chr9:117166338:G:C 2724_2256_752_H->Q 638 chr9:117188566:C:T 2724_1091_364_R->H 638 chr9:117169033:A:G 2724_1838_613_M->T 639 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000340094 gene_Name: TENA_HUMAN 639 list of pdbs: 639 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 639 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 639 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 639 Zimmer Variants: 639 chr9:117792583:C:G 5514_4930_1644_E->Q 639 chr9:117808785:T:A 5514_3937_1313_I->L 639 chr9:117846580:T:C 5514_2039_680_Q->R 639 chr9:117848394:T:C 5514_1616_539_Q->R 639 HGMD Variants: 639 chr9:117803226:T:A 5514_4294_1432_T->S 639 chr9:117803271:C:T 5514_4249_1417_A->T 639 chr9:117803295:C:T 5514_4225_1409_V->M 639 chr9:117808785:T:A 5514_3937_1313_I->L 639 chr9:117852975:C:T 5514_323_108_R->H 639 oneKG Variants: 639 chr9:117783449:C:T 5514_5501_1834_R->H 0.000998403 639 chr9:117783513:G:A 5514_5437_1813_H->Y 0.000199681 639 chr9:117783543:C:T 5514_5407_1803_V->I 0.00339457 639 chr9:117786265:T:C 5514_5390_1797_N->S 0.00459265 639 chr9:117786295:C:T 5514_5360_1787_R->H 0.000199681 639 chr9:117786369:G:C 5514_5286_1762_D->E 0.000199681 639 chr9:117788852:G:A 5514_5200_1734_R->C 0.000199681 639 chr9:117788908:T:C 5514_5144_1715_H->R 0.000199681 639 chr9:117791660:G:A 5514_5056_1686_R->C 0.000199681 639 chr9:117791686:T:G 5514_5030_1677_K->T 0.000199681 639 chr9:117792579:G:A 5514_4934_1645_A->V 0.000199681 639 chr9:117792582:T:G 5514_4931_1644_E->A 0.000199681 639 chr9:117792583:C:G 5514_4930_1644_E->Q 0.331869 639 chr9:117792684:A:G 5514_4829_1610_I->T 0.000199681 639 chr9:117793942:G:A 5514_4718_1573_T->I 0.000199681 639 chr9:117793951:C:T 5514_4709_1570_G->D 0.000199681 639 chr9:117797508:T:C 5514_4670_1557_Y->C 0.000199681 639 chr9:117797538:C:T 5514_4640_1547_R->Q 0.000599042 639 chr9:117797544:G:A 5514_4634_1545_P->L 0.000599042 639 chr9:117797573:C:A 5514_4605_1535_Q->H 0.000199681 639 chr9:117797598:C:T 5514_4580_1527_R->K 0.000399361 639 chr9:117798418:C:G 5514_4523_1508_G->A 0.00239617 639 chr9:117800563:A:C 5514_4397_1466_V->G 0.000199681 639 chr9:117803238:A:C 5514_4282_1428_S->A 0.000199681 639 chr9:117803271:C:T 5514_4249_1417_A->T 0.0820687 639 chr9:117803295:C:T 5514_4225_1409_V->M 0.000199681 639 chr9:117803337:C:T 5514_4183_1395_G->R 0.000199681 639 chr9:117804572:G:A 5514_4082_1361_S->L 0.000599042 639 chr9:117808721:C:G,T 5514_4001_1334_R->P 0.00239617 639 chr9:117808721:C:G,T 5514_4001_1334_R->Q 0.00239617 639 chr9:117808733:C:T 5514_3989_1330_S->N 0.000599042 639 chr9:117808751:A:G 5514_3971_1324_I->T 0.000199681 639 chr9:117808785:T:A 5514_3937_1313_I->L 0.48103 639 chr9:117808864:A:T 5514_3858_1286_F->L 0.000199681 639 chr9:117808882:T:A 5514_3840_1280_E->D 0.000199681 639 chr9:117808924:A:C 5514_3798_1266_D->E 0.000199681 639 chr9:117808952:G:A 5514_3770_1257_P->L 0.000199681 639 chr9:117810701:C:A 5514_3598_1200_V->L 0.000199681 639 chr9:117810706:G:A 5514_3593_1198_T->M 0.0 639 chr9:117819465:G:A 5514_3454_1152_R->W 0.000199681 639 chr9:117819468:T:C 5514_3451_1151_I->V 0.000199681 639 chr9:117819512:G:C 5514_3407_1136_P->R 0.000199681 639 chr9:117819539:C:T 5514_3380_1127_R->Q 0.000399361 639 chr9:117819645:G:C 5514_3274_1092_L->V 0.000199681 639 chr9:117819647:T:C 5514_3272_1091_N->S 0.000599042 639 chr9:117835899:C:T 5514_3197_1066_R->H 0.118211 639 chr9:117835900:G:A 5514_3196_1066_R->C 0.000199681 639 chr9:117835947:T:G 5514_3149_1050_N->T 0.000199681 639 chr9:117836018:C:G 5514_3078_1026_W->C 0.000199681 639 chr9:117838331:G:A 5514_2930_977_A->V 0.000199681 639 chr9:117838677:G:A 5514_2852_951_T->I 0.000199681 639 chr9:117838716:A:G 5514_2813_938_V->A 0.000599042 639 chr9:117838806:C:T 5514_2723_908_S->N 0.000199681 639 chr9:117838824:A:T 5514_2705_902_V->D 0.000199681 639 chr9:117838852:G:A 5514_2677_893_L->F 0.000199681 639 chr9:117840255:A:C 5514_2641_881_S->A 0.000199681 639 chr9:117840276:T:C 5514_2620_874_I->V 0.0133786 639 chr9:117840315:C:G 5514_2581_861_G->R 0.000199681 639 chr9:117840345:G:C 5514_2551_851_L->V 0.000199681 639 chr9:117840348:C:G 5514_2548_850_D->H 0.000399361 639 chr9:117840351:T:C 5514_2545_849_I->V 0.000199681 639 chr9:117840359:C:T 5514_2537_846_R->H 0.000399361 639 chr9:117840405:C:T 5514_2491_831_D->N 0.000399361 639 chr9:117844063:C:A 5514_2392_798_V->L 0.000199681 639 chr9:117844083:C:T 5514_2372_791_R->Q 0.000199681 639 chr9:117844115:C:A 5514_2340_780_E->D 0.0 639 chr9:117844149:C:T 5514_2306_769_R->Q 0.000199681 639 chr9:117844183:T:C 5514_2272_758_T->A 0.000199681 639 chr9:117844978:C:T 5514_2240_747_R->Q 0.000399361 639 chr9:117845011:T:C 5514_2207_736_D->G 0.0171725 639 chr9:117846499:C:G 5514_2120_707_R->T 0.00139776 639 chr9:117846580:T:C 5514_2039_680_Q->R 0.449681 639 chr9:117846613:C:T 5514_2006_669_R->H 0.000199681 639 chr9:117846676:C:T 5514_1943_648_R->Q 0.000599042 639 chr9:117846677:G:A 5514_1942_648_R->W 0.000399361 639 chr9:117846685:T:C 5514_1934_645_N->S 0.000199681 639 chr9:117846711:T:G 5514_1908_636_E->D 0.000199681 639 chr9:117846731:C:T 5514_1888_630_V->I 0.000199681 639 chr9:117846739:T:C 5514_1880_627_K->R 0.000199681 639 chr9:117848146:C:G 5514_1864_622_E->Q 0.000199681 639 chr9:117848162:G:T 5514_1848_616_S->R 0.000199681 639 chr9:117848197:C:T 5514_1813_605_V->I 0.0896565 639 chr9:117848295:C:T 5514_1715_572_R->H 0.000199681 639 chr9:117848368:C:T 5514_1642_548_V->M 0.00638978 639 chr9:117848376:C:A 5514_1634_545_G->V 0.000599042 639 chr9:117848394:T:C 5514_1616_539_Q->R 0.052316 639 chr9:117848440:C:T 5514_1570_524_G->S 0.000199681 639 chr9:117848470:C:T 5514_1540_514_G->R 0.000199681 639 chr9:117848502:C:T 5514_1508_503_R->K 0.00459265 639 chr9:117848520:C:T 5514_1490_497_R->Q 0.000199681 639 chr9:117848533:C:T 5514_1477_493_G->R 0.000599042 639 chr9:117848578:C:T 5514_1432_478_G->S 0.000199681 639 chr9:117848603:G:C 5514_1407_469_S->R 0.000199681 639 chr9:117848668:G:C 5514_1342_448_R->G 0.00199681 639 chr9:117848670:C:T 5514_1340_447_G->D 0.000199681 639 chr9:117848680:G:A 5514_1330_444_H->Y 0.000199681 639 chr9:117848688:T:C 5514_1322_441_N->S 0.00219649 639 chr9:117848749:C:A 5514_1261_421_G->W 0.000199681 639 chr9:117848784:G:A 5514_1226_409_P->L 0.000199681 639 chr9:117848785:G:T 5514_1225_409_P->T 0.000399361 639 chr9:117848820:C:T 5514_1190_397_G->D 0.000199681 639 chr9:117848838:C:T 5514_1172_391_R->Q 0.000199681 639 chr9:117848842:C:T 5514_1168_390_G->R 0.000399361 639 chr9:117848853:C:T 5514_1157_386_R->H 0.000199681 639 chr9:117848860:G:A 5514_1150_384_R->C 0.000199681 639 chr9:117849060:T:C 5514_950_317_N->S 0.000199681 639 chr9:117849168:T:C 5514_842_281_K->R 0.000399361 639 chr9:117849229:C:T 5514_781_261_G->S 0.0111821 639 chr9:117849280:C:T 5514_730_244_G->R 0.000199681 639 chr9:117849340:C:T 5514_670_224_D->N 0.000199681 639 chr9:117849373:C:T 5514_637_213_G->S 0.00638978 639 chr9:117849382:C:T 5514_628_210_G->S 0.00119808 639 chr9:117849385:C:T 5514_625_209_D->N 0.000199681 639 chr9:117849403:C:T 5514_607_203_G->R 0.000199681 639 chr9:117849420:C:T 5514_590_197_R->Q 0.000798722 639 chr9:117849499:C:G 5514_511_171_G->R 0.000798722 639 chr9:117849504:G:A 5514_506_169_T->I 0.000199681 639 chr9:117852855:A:G 5514_443_148_L->P 0.00239617 639 chr9:117852864:C:A 5514_434_145_G->V 0.00319489 639 chr9:117852955:C:T 5514_343_115_A->T 0.000399361 639 chr9:117852970:C:A 5514_328_110_A->S 0.000199681 639 chr9:117852973:G:A 5514_325_109_R->W 0.000199681 639 chr9:117852975:C:T 5514_323_108_R->H 0.000199681 639 chr9:117853098:T:C 5514_200_67_D->G 0.000199681 639 chr9:117853189:C:T 5514_109_37_V->M 0.000798722 639 chr9:117853200:C:T 5514_98_33_R->Q 0.000599042 639 chr9:117853237:C:T 5514_61_21_E->K 0.000798722 639 na12878 Variants: 639 chr9:117792583:C:G 5514_4930_1644_E->Q 639 chr9:117846580:T:C 5514_2039_680_Q->R 639 chr9:117848394:T:C 5514_1616_539_Q->R 639 snyder Variants: 639 chr9:117792583:C:G 5514_4930_1644_E->Q 639 chr9:117846580:T:C 5514_2039_680_Q->R 639 chr9:117848394:T:C 5514_1616_539_Q->R 640 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000535648 gene_Name: TENA_HUMAN 640 list of pdbs: 640 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 640 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 640 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 640 Zimmer Variants: 640 chr9:117792583:C:G 5241_4657_1553_E->Q 640 chr9:117808785:T:A 5241_3664_1222_I->L 640 chr9:117846580:T:C 5241_2039_680_Q->R 640 chr9:117848394:T:C 5241_1616_539_Q->R 640 HGMD Variants: 640 chr9:117803226:T:A 5241_4021_1341_T->S 640 chr9:117803271:C:T 5241_3976_1326_A->T 640 chr9:117803295:C:T 5241_3952_1318_V->M 640 chr9:117808785:T:A 5241_3664_1222_I->L 640 chr9:117852975:C:T 5241_323_108_R->H 640 oneKG Variants: 640 chr9:117783449:C:T 5241_5228_1743_R->H 0.000998403 640 chr9:117783513:G:A 5241_5164_1722_H->Y 0.000199681 640 chr9:117783543:C:T 5241_5134_1712_V->I 0.00339457 640 chr9:117786265:T:C 5241_5117_1706_N->S 0.00459265 640 chr9:117786295:C:T 5241_5087_1696_R->H 0.000199681 640 chr9:117786369:G:C 5241_5013_1671_D->E 0.000199681 640 chr9:117788852:G:A 5241_4927_1643_R->C 0.000199681 640 chr9:117788908:T:C 5241_4871_1624_H->R 0.000199681 640 chr9:117791660:G:A 5241_4783_1595_R->C 0.000199681 640 chr9:117791686:T:G 5241_4757_1586_K->T 0.000199681 640 chr9:117792579:G:A 5241_4661_1554_A->V 0.000199681 640 chr9:117792582:T:G 5241_4658_1553_E->A 0.000199681 640 chr9:117792583:C:G 5241_4657_1553_E->Q 0.331869 640 chr9:117792684:A:G 5241_4556_1519_I->T 0.000199681 640 chr9:117793942:G:A 5241_4445_1482_T->I 0.000199681 640 chr9:117793951:C:T 5241_4436_1479_G->D 0.000199681 640 chr9:117797508:T:C 5241_4397_1466_Y->C 0.000199681 640 chr9:117797538:C:T 5241_4367_1456_R->Q 0.000599042 640 chr9:117797544:G:A 5241_4361_1454_P->L 0.000599042 640 chr9:117797573:C:A 5241_4332_1444_Q->H 0.000199681 640 chr9:117797598:C:T 5241_4307_1436_R->K 0.000399361 640 chr9:117798418:C:G 5241_4250_1417_G->A 0.00239617 640 chr9:117800563:A:C 5241_4124_1375_V->G 0.000199681 640 chr9:117803238:A:C 5241_4009_1337_S->A 0.000199681 640 chr9:117803271:C:T 5241_3976_1326_A->T 0.0820687 640 chr9:117803295:C:T 5241_3952_1318_V->M 0.000199681 640 chr9:117803337:C:T 5241_3910_1304_G->R 0.000199681 640 chr9:117804572:G:A 5241_3809_1270_S->L 0.000599042 640 chr9:117808721:C:G,T 5241_3728_1243_R->P 0.00239617 640 chr9:117808721:C:G,T 5241_3728_1243_R->Q 0.00239617 640 chr9:117808733:C:T 5241_3716_1239_S->N 0.000599042 640 chr9:117808751:A:G 5241_3698_1233_I->T 0.000199681 640 chr9:117808785:T:A 5241_3664_1222_I->L 0.48103 640 chr9:117808864:A:T 5241_3585_1195_F->L 0.000199681 640 chr9:117808882:T:A 5241_3567_1189_E->D 0.000199681 640 chr9:117808924:A:C 5241_3525_1175_D->E 0.000199681 640 chr9:117808952:G:A 5241_3497_1166_P->L 0.000199681 640 chr9:117819465:G:A 5241_3454_1152_R->W 0.000199681 640 chr9:117819468:T:C 5241_3451_1151_I->V 0.000199681 640 chr9:117819512:G:C 5241_3407_1136_P->R 0.000199681 640 chr9:117819539:C:T 5241_3380_1127_R->Q 0.000399361 640 chr9:117819645:G:C 5241_3274_1092_L->V 0.000199681 640 chr9:117819647:T:C 5241_3272_1091_N->S 0.000599042 640 chr9:117835899:C:T 5241_3197_1066_R->H 0.118211 640 chr9:117835900:G:A 5241_3196_1066_R->C 0.000199681 640 chr9:117835947:T:G 5241_3149_1050_N->T 0.000199681 640 chr9:117836018:C:G 5241_3078_1026_W->C 0.000199681 640 chr9:117838331:G:A 5241_2930_977_A->V 0.000199681 640 chr9:117838677:G:A 5241_2852_951_T->I 0.000199681 640 chr9:117838716:A:G 5241_2813_938_V->A 0.000599042 640 chr9:117838806:C:T 5241_2723_908_S->N 0.000199681 640 chr9:117838824:A:T 5241_2705_902_V->D 0.000199681 640 chr9:117838852:G:A 5241_2677_893_L->F 0.000199681 640 chr9:117840255:A:C 5241_2641_881_S->A 0.000199681 640 chr9:117840276:T:C 5241_2620_874_I->V 0.0133786 640 chr9:117840315:C:G 5241_2581_861_G->R 0.000199681 640 chr9:117840345:G:C 5241_2551_851_L->V 0.000199681 640 chr9:117840348:C:G 5241_2548_850_D->H 0.000399361 640 chr9:117840351:T:C 5241_2545_849_I->V 0.000199681 640 chr9:117840359:C:T 5241_2537_846_R->H 0.000399361 640 chr9:117840405:C:T 5241_2491_831_D->N 0.000399361 640 chr9:117844063:C:A 5241_2392_798_V->L 0.000199681 640 chr9:117844083:C:T 5241_2372_791_R->Q 0.000199681 640 chr9:117844115:C:A 5241_2340_780_E->D 0.0 640 chr9:117844149:C:T 5241_2306_769_R->Q 0.000199681 640 chr9:117844183:T:C 5241_2272_758_T->A 0.000199681 640 chr9:117844978:C:T 5241_2240_747_R->Q 0.000399361 640 chr9:117845011:T:C 5241_2207_736_D->G 0.0171725 640 chr9:117846499:C:G 5241_2120_707_R->T 0.00139776 640 chr9:117846580:T:C 5241_2039_680_Q->R 0.449681 640 chr9:117846613:C:T 5241_2006_669_R->H 0.000199681 640 chr9:117846676:C:T 5241_1943_648_R->Q 0.000599042 640 chr9:117846677:G:A 5241_1942_648_R->W 0.000399361 640 chr9:117846685:T:C 5241_1934_645_N->S 0.000199681 640 chr9:117846711:T:G 5241_1908_636_E->D 0.000199681 640 chr9:117846731:C:T 5241_1888_630_V->I 0.000199681 640 chr9:117846739:T:C 5241_1880_627_K->R 0.000199681 640 chr9:117848146:C:G 5241_1864_622_E->Q 0.000199681 640 chr9:117848162:G:T 5241_1848_616_S->R 0.000199681 640 chr9:117848197:C:T 5241_1813_605_V->I 0.0896565 640 chr9:117848295:C:T 5241_1715_572_R->H 0.000199681 640 chr9:117848368:C:T 5241_1642_548_V->M 0.00638978 640 chr9:117848376:C:A 5241_1634_545_G->V 0.000599042 640 chr9:117848394:T:C 5241_1616_539_Q->R 0.052316 640 chr9:117848440:C:T 5241_1570_524_G->S 0.000199681 640 chr9:117848470:C:T 5241_1540_514_G->R 0.000199681 640 chr9:117848502:C:T 5241_1508_503_R->K 0.00459265 640 chr9:117848520:C:T 5241_1490_497_R->Q 0.000199681 640 chr9:117848533:C:T 5241_1477_493_G->R 0.000599042 640 chr9:117848578:C:T 5241_1432_478_G->S 0.000199681 640 chr9:117848603:G:C 5241_1407_469_S->R 0.000199681 640 chr9:117848668:G:C 5241_1342_448_R->G 0.00199681 640 chr9:117848670:C:T 5241_1340_447_G->D 0.000199681 640 chr9:117848680:G:A 5241_1330_444_H->Y 0.000199681 640 chr9:117848688:T:C 5241_1322_441_N->S 0.00219649 640 chr9:117848749:C:A 5241_1261_421_G->W 0.000199681 640 chr9:117848784:G:A 5241_1226_409_P->L 0.000199681 640 chr9:117848785:G:T 5241_1225_409_P->T 0.000399361 640 chr9:117848820:C:T 5241_1190_397_G->D 0.000199681 640 chr9:117848838:C:T 5241_1172_391_R->Q 0.000199681 640 chr9:117848842:C:T 5241_1168_390_G->R 0.000399361 640 chr9:117848853:C:T 5241_1157_386_R->H 0.000199681 640 chr9:117848860:G:A 5241_1150_384_R->C 0.000199681 640 chr9:117849060:T:C 5241_950_317_N->S 0.000199681 640 chr9:117849168:T:C 5241_842_281_K->R 0.000399361 640 chr9:117849229:C:T 5241_781_261_G->S 0.0111821 640 chr9:117849280:C:T 5241_730_244_G->R 0.000199681 640 chr9:117849340:C:T 5241_670_224_D->N 0.000199681 640 chr9:117849373:C:T 5241_637_213_G->S 0.00638978 640 chr9:117849382:C:T 5241_628_210_G->S 0.00119808 640 chr9:117849385:C:T 5241_625_209_D->N 0.000199681 640 chr9:117849403:C:T 5241_607_203_G->R 0.000199681 640 chr9:117849420:C:T 5241_590_197_R->Q 0.000798722 640 chr9:117849499:C:G 5241_511_171_G->R 0.000798722 640 chr9:117849504:G:A 5241_506_169_T->I 0.000199681 640 chr9:117852855:A:G 5241_443_148_L->P 0.00239617 640 chr9:117852864:C:A 5241_434_145_G->V 0.00319489 640 chr9:117852955:C:T 5241_343_115_A->T 0.000399361 640 chr9:117852970:C:A 5241_328_110_A->S 0.000199681 640 chr9:117852973:G:A 5241_325_109_R->W 0.000199681 640 chr9:117852975:C:T 5241_323_108_R->H 0.000199681 640 chr9:117853098:T:C 5241_200_67_D->G 0.000199681 640 chr9:117853189:C:T 5241_109_37_V->M 0.000798722 640 chr9:117853200:C:T 5241_98_33_R->Q 0.000599042 640 chr9:117853237:C:T 5241_61_21_E->K 0.000798722 640 na12878 Variants: 640 chr9:117792583:C:G 5241_4657_1553_E->Q 640 chr9:117846580:T:C 5241_2039_680_Q->R 640 chr9:117848394:T:C 5241_1616_539_Q->R 640 snyder Variants: 640 chr9:117792583:C:G 5241_4657_1553_E->Q 640 chr9:117846580:T:C 5241_2039_680_Q->R 640 chr9:117848394:T:C 5241_1616_539_Q->R 641 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000346706 gene_Name: TENA_HUMAN 641 list of pdbs: 641 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 641 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 641 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 641 Zimmer Variants: 641 chr9:117792583:C:G 4968_4384_1462_E->Q 641 chr9:117808785:T:A 4968_3391_1131_I->L 641 chr9:117846580:T:C 4968_2039_680_Q->R 641 chr9:117848394:T:C 4968_1616_539_Q->R 641 HGMD Variants: 641 chr9:117803226:T:A 4968_3748_1250_T->S 641 chr9:117803271:C:T 4968_3703_1235_A->T 641 chr9:117803295:C:T 4968_3679_1227_V->M 641 chr9:117808785:T:A 4968_3391_1131_I->L 641 chr9:117852975:C:T 4968_323_108_R->H 641 oneKG Variants: 641 chr9:117783449:C:T 4968_4955_1652_R->H 0.000998403 641 chr9:117783513:G:A 4968_4891_1631_H->Y 0.000199681 641 chr9:117783543:C:T 4968_4861_1621_V->I 0.00339457 641 chr9:117786265:T:C 4968_4844_1615_N->S 0.00459265 641 chr9:117786295:C:T 4968_4814_1605_R->H 0.000199681 641 chr9:117786369:G:C 4968_4740_1580_D->E 0.000199681 641 chr9:117788852:G:A 4968_4654_1552_R->C 0.000199681 641 chr9:117788908:T:C 4968_4598_1533_H->R 0.000199681 641 chr9:117791660:G:A 4968_4510_1504_R->C 0.000199681 641 chr9:117791686:T:G 4968_4484_1495_K->T 0.000199681 641 chr9:117792579:G:A 4968_4388_1463_A->V 0.000199681 641 chr9:117792582:T:G 4968_4385_1462_E->A 0.000199681 641 chr9:117792583:C:G 4968_4384_1462_E->Q 0.331869 641 chr9:117792684:A:G 4968_4283_1428_I->T 0.000199681 641 chr9:117793942:G:A 4968_4172_1391_T->I 0.000199681 641 chr9:117793951:C:T 4968_4163_1388_G->D 0.000199681 641 chr9:117797508:T:C 4968_4124_1375_Y->C 0.000199681 641 chr9:117797538:C:T 4968_4094_1365_R->Q 0.000599042 641 chr9:117797544:G:A 4968_4088_1363_P->L 0.000599042 641 chr9:117797573:C:A 4968_4059_1353_Q->H 0.000199681 641 chr9:117797598:C:T 4968_4034_1345_R->K 0.000399361 641 chr9:117798418:C:G 4968_3977_1326_G->A 0.00239617 641 chr9:117800563:A:C 4968_3851_1284_V->G 0.000199681 641 chr9:117803238:A:C 4968_3736_1246_S->A 0.000199681 641 chr9:117803271:C:T 4968_3703_1235_A->T 0.0820687 641 chr9:117803295:C:T 4968_3679_1227_V->M 0.000199681 641 chr9:117803337:C:T 4968_3637_1213_G->R 0.000199681 641 chr9:117804572:G:A 4968_3536_1179_S->L 0.000599042 641 chr9:117808721:C:G,T 4968_3455_1152_R->P 0.00239617 641 chr9:117808721:C:G,T 4968_3455_1152_R->Q 0.00239617 641 chr9:117808733:C:T 4968_3443_1148_S->N 0.000599042 641 chr9:117808751:A:G 4968_3425_1142_I->T 0.000199681 641 chr9:117808785:T:A 4968_3391_1131_I->L 0.48103 641 chr9:117808864:A:T 4968_3312_1104_F->L 0.000199681 641 chr9:117808882:T:A 4968_3294_1098_E->D 0.000199681 641 chr9:117808924:A:C 4968_3252_1084_D->E 0.000199681 641 chr9:117808952:G:A 4968_3224_1075_P->L 0.000199681 641 chr9:117835899:C:T 4968_3197_1066_R->H 0.118211 641 chr9:117835900:G:A 4968_3196_1066_R->C 0.000199681 641 chr9:117835947:T:G 4968_3149_1050_N->T 0.000199681 641 chr9:117836018:C:G 4968_3078_1026_W->C 0.000199681 641 chr9:117838331:G:A 4968_2930_977_A->V 0.000199681 641 chr9:117838677:G:A 4968_2852_951_T->I 0.000199681 641 chr9:117838716:A:G 4968_2813_938_V->A 0.000599042 641 chr9:117838806:C:T 4968_2723_908_S->N 0.000199681 641 chr9:117838824:A:T 4968_2705_902_V->D 0.000199681 641 chr9:117838852:G:A 4968_2677_893_L->F 0.000199681 641 chr9:117840255:A:C 4968_2641_881_S->A 0.000199681 641 chr9:117840276:T:C 4968_2620_874_I->V 0.0133786 641 chr9:117840315:C:G 4968_2581_861_G->R 0.000199681 641 chr9:117840345:G:C 4968_2551_851_L->V 0.000199681 641 chr9:117840348:C:G 4968_2548_850_D->H 0.000399361 641 chr9:117840351:T:C 4968_2545_849_I->V 0.000199681 641 chr9:117840359:C:T 4968_2537_846_R->H 0.000399361 641 chr9:117840405:C:T 4968_2491_831_D->N 0.000399361 641 chr9:117844063:C:A 4968_2392_798_V->L 0.000199681 641 chr9:117844083:C:T 4968_2372_791_R->Q 0.000199681 641 chr9:117844115:C:A 4968_2340_780_E->D 0.0 641 chr9:117844149:C:T 4968_2306_769_R->Q 0.000199681 641 chr9:117844183:T:C 4968_2272_758_T->A 0.000199681 641 chr9:117844978:C:T 4968_2240_747_R->Q 0.000399361 641 chr9:117845011:T:C 4968_2207_736_D->G 0.0171725 641 chr9:117846499:C:G 4968_2120_707_R->T 0.00139776 641 chr9:117846580:T:C 4968_2039_680_Q->R 0.449681 641 chr9:117846613:C:T 4968_2006_669_R->H 0.000199681 641 chr9:117846676:C:T 4968_1943_648_R->Q 0.000599042 641 chr9:117846677:G:A 4968_1942_648_R->W 0.000399361 641 chr9:117846685:T:C 4968_1934_645_N->S 0.000199681 641 chr9:117846711:T:G 4968_1908_636_E->D 0.000199681 641 chr9:117846731:C:T 4968_1888_630_V->I 0.000199681 641 chr9:117846739:T:C 4968_1880_627_K->R 0.000199681 641 chr9:117848146:C:G 4968_1864_622_E->Q 0.000199681 641 chr9:117848162:G:T 4968_1848_616_S->R 0.000199681 641 chr9:117848197:C:T 4968_1813_605_V->I 0.0896565 641 chr9:117848295:C:T 4968_1715_572_R->H 0.000199681 641 chr9:117848368:C:T 4968_1642_548_V->M 0.00638978 641 chr9:117848376:C:A 4968_1634_545_G->V 0.000599042 641 chr9:117848394:T:C 4968_1616_539_Q->R 0.052316 641 chr9:117848440:C:T 4968_1570_524_G->S 0.000199681 641 chr9:117848470:C:T 4968_1540_514_G->R 0.000199681 641 chr9:117848502:C:T 4968_1508_503_R->K 0.00459265 641 chr9:117848520:C:T 4968_1490_497_R->Q 0.000199681 641 chr9:117848533:C:T 4968_1477_493_G->R 0.000599042 641 chr9:117848578:C:T 4968_1432_478_G->S 0.000199681 641 chr9:117848603:G:C 4968_1407_469_S->R 0.000199681 641 chr9:117848668:G:C 4968_1342_448_R->G 0.00199681 641 chr9:117848670:C:T 4968_1340_447_G->D 0.000199681 641 chr9:117848680:G:A 4968_1330_444_H->Y 0.000199681 641 chr9:117848688:T:C 4968_1322_441_N->S 0.00219649 641 chr9:117848749:C:A 4968_1261_421_G->W 0.000199681 641 chr9:117848784:G:A 4968_1226_409_P->L 0.000199681 641 chr9:117848785:G:T 4968_1225_409_P->T 0.000399361 641 chr9:117848820:C:T 4968_1190_397_G->D 0.000199681 641 chr9:117848838:C:T 4968_1172_391_R->Q 0.000199681 641 chr9:117848842:C:T 4968_1168_390_G->R 0.000399361 641 chr9:117848853:C:T 4968_1157_386_R->H 0.000199681 641 chr9:117848860:G:A 4968_1150_384_R->C 0.000199681 641 chr9:117849060:T:C 4968_950_317_N->S 0.000199681 641 chr9:117849168:T:C 4968_842_281_K->R 0.000399361 641 chr9:117849229:C:T 4968_781_261_G->S 0.0111821 641 chr9:117849280:C:T 4968_730_244_G->R 0.000199681 641 chr9:117849340:C:T 4968_670_224_D->N 0.000199681 641 chr9:117849373:C:T 4968_637_213_G->S 0.00638978 641 chr9:117849382:C:T 4968_628_210_G->S 0.00119808 641 chr9:117849385:C:T 4968_625_209_D->N 0.000199681 641 chr9:117849403:C:T 4968_607_203_G->R 0.000199681 641 chr9:117849420:C:T 4968_590_197_R->Q 0.000798722 641 chr9:117849499:C:G 4968_511_171_G->R 0.000798722 641 chr9:117849504:G:A 4968_506_169_T->I 0.000199681 641 chr9:117852855:A:G 4968_443_148_L->P 0.00239617 641 chr9:117852864:C:A 4968_434_145_G->V 0.00319489 641 chr9:117852955:C:T 4968_343_115_A->T 0.000399361 641 chr9:117852970:C:A 4968_328_110_A->S 0.000199681 641 chr9:117852973:G:A 4968_325_109_R->W 0.000199681 641 chr9:117852975:C:T 4968_323_108_R->H 0.000199681 641 chr9:117853098:T:C 4968_200_67_D->G 0.000199681 641 chr9:117853189:C:T 4968_109_37_V->M 0.000798722 641 chr9:117853200:C:T 4968_98_33_R->Q 0.000599042 641 chr9:117853237:C:T 4968_61_21_E->K 0.000798722 641 na12878 Variants: 641 chr9:117792583:C:G 4968_4384_1462_E->Q 641 chr9:117846580:T:C 4968_2039_680_Q->R 641 chr9:117848394:T:C 4968_1616_539_Q->R 641 snyder Variants: 641 chr9:117792583:C:G 4968_4384_1462_E->Q 641 chr9:117846580:T:C 4968_2039_680_Q->R 641 chr9:117848394:T:C 4968_1616_539_Q->R 642 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000345230 gene_Name: TENA_HUMAN 642 list of pdbs: 642 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 642 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 642 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 642 Zimmer Variants: 642 chr9:117792583:C:G 4695_4111_1371_E->Q 642 chr9:117846580:T:C 4695_2039_680_Q->R 642 chr9:117848394:T:C 4695_1616_539_Q->R 642 HGMD Variants: 642 chr9:117803226:T:A 4695_3475_1159_T->S 642 chr9:117803271:C:T 4695_3430_1144_A->T 642 chr9:117803295:C:T 4695_3406_1136_V->M 642 chr9:117852975:C:T 4695_323_108_R->H 642 oneKG Variants: 642 chr9:117783449:C:T 4695_4682_1561_R->H 0.000998403 642 chr9:117783513:G:A 4695_4618_1540_H->Y 0.000199681 642 chr9:117783543:C:T 4695_4588_1530_V->I 0.00339457 642 chr9:117786265:T:C 4695_4571_1524_N->S 0.00459265 642 chr9:117786295:C:T 4695_4541_1514_R->H 0.000199681 642 chr9:117786369:G:C 4695_4467_1489_D->E 0.000199681 642 chr9:117788852:G:A 4695_4381_1461_R->C 0.000199681 642 chr9:117788908:T:C 4695_4325_1442_H->R 0.000199681 642 chr9:117791660:G:A 4695_4237_1413_R->C 0.000199681 642 chr9:117791686:T:G 4695_4211_1404_K->T 0.000199681 642 chr9:117792579:G:A 4695_4115_1372_A->V 0.000199681 642 chr9:117792582:T:G 4695_4112_1371_E->A 0.000199681 642 chr9:117792583:C:G 4695_4111_1371_E->Q 0.331869 642 chr9:117792684:A:G 4695_4010_1337_I->T 0.000199681 642 chr9:117793942:G:A 4695_3899_1300_T->I 0.000199681 642 chr9:117793951:C:T 4695_3890_1297_G->D 0.000199681 642 chr9:117797508:T:C 4695_3851_1284_Y->C 0.000199681 642 chr9:117797538:C:T 4695_3821_1274_R->Q 0.000599042 642 chr9:117797544:G:A 4695_3815_1272_P->L 0.000599042 642 chr9:117797573:C:A 4695_3786_1262_Q->H 0.000199681 642 chr9:117797598:C:T 4695_3761_1254_R->K 0.000399361 642 chr9:117798418:C:G 4695_3704_1235_G->A 0.00239617 642 chr9:117800563:A:C 4695_3578_1193_V->G 0.000199681 642 chr9:117803238:A:C 4695_3463_1155_S->A 0.000199681 642 chr9:117803271:C:T 4695_3430_1144_A->T 0.0820687 642 chr9:117803295:C:T 4695_3406_1136_V->M 0.000199681 642 chr9:117803337:C:T 4695_3364_1122_G->R 0.000199681 642 chr9:117804572:G:A 4695_3263_1088_S->L 0.000599042 642 chr9:117835899:C:T 4695_3197_1066_R->H 0.118211 642 chr9:117835900:G:A 4695_3196_1066_R->C 0.000199681 642 chr9:117835947:T:G 4695_3149_1050_N->T 0.000199681 642 chr9:117836018:C:G 4695_3078_1026_W->C 0.000199681 642 chr9:117838331:G:A 4695_2930_977_A->V 0.000199681 642 chr9:117838677:G:A 4695_2852_951_T->I 0.000199681 642 chr9:117838716:A:G 4695_2813_938_V->A 0.000599042 642 chr9:117838806:C:T 4695_2723_908_S->N 0.000199681 642 chr9:117838824:A:T 4695_2705_902_V->D 0.000199681 642 chr9:117838852:G:A 4695_2677_893_L->F 0.000199681 642 chr9:117840255:A:C 4695_2641_881_S->A 0.000199681 642 chr9:117840276:T:C 4695_2620_874_I->V 0.0133786 642 chr9:117840315:C:G 4695_2581_861_G->R 0.000199681 642 chr9:117840345:G:C 4695_2551_851_L->V 0.000199681 642 chr9:117840348:C:G 4695_2548_850_D->H 0.000399361 642 chr9:117840351:T:C 4695_2545_849_I->V 0.000199681 642 chr9:117840359:C:T 4695_2537_846_R->H 0.000399361 642 chr9:117840405:C:T 4695_2491_831_D->N 0.000399361 642 chr9:117844063:C:A 4695_2392_798_V->L 0.000199681 642 chr9:117844083:C:T 4695_2372_791_R->Q 0.000199681 642 chr9:117844115:C:A 4695_2340_780_E->D 0.0 642 chr9:117844149:C:T 4695_2306_769_R->Q 0.000199681 642 chr9:117844183:T:C 4695_2272_758_T->A 0.000199681 642 chr9:117844978:C:T 4695_2240_747_R->Q 0.000399361 642 chr9:117845011:T:C 4695_2207_736_D->G 0.0171725 642 chr9:117846499:C:G 4695_2120_707_R->T 0.00139776 642 chr9:117846580:T:C 4695_2039_680_Q->R 0.449681 642 chr9:117846613:C:T 4695_2006_669_R->H 0.000199681 642 chr9:117846676:C:T 4695_1943_648_R->Q 0.000599042 642 chr9:117846677:G:A 4695_1942_648_R->W 0.000399361 642 chr9:117846685:T:C 4695_1934_645_N->S 0.000199681 642 chr9:117846711:T:G 4695_1908_636_E->D 0.000199681 642 chr9:117846731:C:T 4695_1888_630_V->I 0.000199681 642 chr9:117846739:T:C 4695_1880_627_K->R 0.000199681 642 chr9:117848146:C:G 4695_1864_622_E->Q 0.000199681 642 chr9:117848162:G:T 4695_1848_616_S->R 0.000199681 642 chr9:117848197:C:T 4695_1813_605_V->I 0.0896565 642 chr9:117848295:C:T 4695_1715_572_R->H 0.000199681 642 chr9:117848368:C:T 4695_1642_548_V->M 0.00638978 642 chr9:117848376:C:A 4695_1634_545_G->V 0.000599042 642 chr9:117848394:T:C 4695_1616_539_Q->R 0.052316 642 chr9:117848440:C:T 4695_1570_524_G->S 0.000199681 642 chr9:117848470:C:T 4695_1540_514_G->R 0.000199681 642 chr9:117848502:C:T 4695_1508_503_R->K 0.00459265 642 chr9:117848520:C:T 4695_1490_497_R->Q 0.000199681 642 chr9:117848533:C:T 4695_1477_493_G->R 0.000599042 642 chr9:117848578:C:T 4695_1432_478_G->S 0.000199681 642 chr9:117848603:G:C 4695_1407_469_S->R 0.000199681 642 chr9:117848668:G:C 4695_1342_448_R->G 0.00199681 642 chr9:117848670:C:T 4695_1340_447_G->D 0.000199681 642 chr9:117848680:G:A 4695_1330_444_H->Y 0.000199681 642 chr9:117848688:T:C 4695_1322_441_N->S 0.00219649 642 chr9:117848749:C:A 4695_1261_421_G->W 0.000199681 642 chr9:117848784:G:A 4695_1226_409_P->L 0.000199681 642 chr9:117848785:G:T 4695_1225_409_P->T 0.000399361 642 chr9:117848820:C:T 4695_1190_397_G->D 0.000199681 642 chr9:117848838:C:T 4695_1172_391_R->Q 0.000199681 642 chr9:117848842:C:T 4695_1168_390_G->R 0.000399361 642 chr9:117848853:C:T 4695_1157_386_R->H 0.000199681 642 chr9:117848860:G:A 4695_1150_384_R->C 0.000199681 642 chr9:117849060:T:C 4695_950_317_N->S 0.000199681 642 chr9:117849168:T:C 4695_842_281_K->R 0.000399361 642 chr9:117849229:C:T 4695_781_261_G->S 0.0111821 642 chr9:117849280:C:T 4695_730_244_G->R 0.000199681 642 chr9:117849340:C:T 4695_670_224_D->N 0.000199681 642 chr9:117849373:C:T 4695_637_213_G->S 0.00638978 642 chr9:117849382:C:T 4695_628_210_G->S 0.00119808 642 chr9:117849385:C:T 4695_625_209_D->N 0.000199681 642 chr9:117849403:C:T 4695_607_203_G->R 0.000199681 642 chr9:117849420:C:T 4695_590_197_R->Q 0.000798722 642 chr9:117849499:C:G 4695_511_171_G->R 0.000798722 642 chr9:117849504:G:A 4695_506_169_T->I 0.000199681 642 chr9:117852855:A:G 4695_443_148_L->P 0.00239617 642 chr9:117852864:C:A 4695_434_145_G->V 0.00319489 642 chr9:117852955:C:T 4695_343_115_A->T 0.000399361 642 chr9:117852970:C:A 4695_328_110_A->S 0.000199681 642 chr9:117852973:G:A 4695_325_109_R->W 0.000199681 642 chr9:117852975:C:T 4695_323_108_R->H 0.000199681 642 chr9:117853098:T:C 4695_200_67_D->G 0.000199681 642 chr9:117853189:C:T 4695_109_37_V->M 0.000798722 642 chr9:117853200:C:T 4695_98_33_R->Q 0.000599042 642 chr9:117853237:C:T 4695_61_21_E->K 0.000798722 642 na12878 Variants: 642 chr9:117792583:C:G 4695_4111_1371_E->Q 642 chr9:117846580:T:C 4695_2039_680_Q->R 642 chr9:117848394:T:C 4695_1616_539_Q->R 642 snyder Variants: 642 chr9:117792583:C:G 4695_4111_1371_E->Q 642 chr9:117846580:T:C 4695_2039_680_Q->R 642 chr9:117848394:T:C 4695_1616_539_Q->R 643 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000350763 gene_Name: TENA_HUMAN 643 list of pdbs: 643 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 643 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 643 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 643 Zimmer Variants: 643 chr9:117792583:C:G 6606_6022_2008_E->Q 643 chr9:117808785:T:A 6606_5029_1677_I->L 643 chr9:117846580:T:C 6606_2039_680_Q->R 643 chr9:117848394:T:C 6606_1616_539_Q->R 643 HGMD Variants: 643 chr9:117803226:T:A 6606_5386_1796_T->S 643 chr9:117803271:C:T 6606_5341_1781_A->T 643 chr9:117803295:C:T 6606_5317_1773_V->M 643 chr9:117808785:T:A 6606_5029_1677_I->L 643 chr9:117852975:C:T 6606_323_108_R->H 643 oneKG Variants: 643 chr9:117783449:C:T 6606_6593_2198_R->H 0.000998403 643 chr9:117783513:G:A 6606_6529_2177_H->Y 0.000199681 643 chr9:117783543:C:T 6606_6499_2167_V->I 0.00339457 643 chr9:117786265:T:C 6606_6482_2161_N->S 0.00459265 643 chr9:117786295:C:T 6606_6452_2151_R->H 0.000199681 643 chr9:117786369:G:C 6606_6378_2126_D->E 0.000199681 643 chr9:117788852:G:A 6606_6292_2098_R->C 0.000199681 643 chr9:117788908:T:C 6606_6236_2079_H->R 0.000199681 643 chr9:117791660:G:A 6606_6148_2050_R->C 0.000199681 643 chr9:117791686:T:G 6606_6122_2041_K->T 0.000199681 643 chr9:117792579:G:A 6606_6026_2009_A->V 0.000199681 643 chr9:117792582:T:G 6606_6023_2008_E->A 0.000199681 643 chr9:117792583:C:G 6606_6022_2008_E->Q 0.331869 643 chr9:117792684:A:G 6606_5921_1974_I->T 0.000199681 643 chr9:117793942:G:A 6606_5810_1937_T->I 0.000199681 643 chr9:117793951:C:T 6606_5801_1934_G->D 0.000199681 643 chr9:117797508:T:C 6606_5762_1921_Y->C 0.000199681 643 chr9:117797538:C:T 6606_5732_1911_R->Q 0.000599042 643 chr9:117797544:G:A 6606_5726_1909_P->L 0.000599042 643 chr9:117797573:C:A 6606_5697_1899_Q->H 0.000199681 643 chr9:117797598:C:T 6606_5672_1891_R->K 0.000399361 643 chr9:117798418:C:G 6606_5615_1872_G->A 0.00239617 643 chr9:117800563:A:C 6606_5489_1830_V->G 0.000199681 643 chr9:117803238:A:C 6606_5374_1792_S->A 0.000199681 643 chr9:117803271:C:T 6606_5341_1781_A->T 0.0820687 643 chr9:117803295:C:T 6606_5317_1773_V->M 0.000199681 643 chr9:117803337:C:T 6606_5275_1759_G->R 0.000199681 643 chr9:117804572:G:A 6606_5174_1725_S->L 0.000599042 643 chr9:117808721:C:G,T 6606_5093_1698_R->P 0.00239617 643 chr9:117808721:C:G,T 6606_5093_1698_R->Q 0.00239617 643 chr9:117808733:C:T 6606_5081_1694_S->N 0.000599042 643 chr9:117808751:A:G 6606_5063_1688_I->T 0.000199681 643 chr9:117808785:T:A 6606_5029_1677_I->L 0.48103 643 chr9:117808864:A:T 6606_4950_1650_F->L 0.000199681 643 chr9:117808882:T:A 6606_4932_1644_E->D 0.000199681 643 chr9:117808924:A:C 6606_4890_1630_D->E 0.000199681 643 chr9:117808952:G:A 6606_4862_1621_P->L 0.000199681 643 chr9:117810701:C:A 6606_4690_1564_V->L 0.000199681 643 chr9:117810706:G:A 6606_4685_1562_T->M 0.0 643 chr9:117819465:G:A 6606_4546_1516_R->W 0.000199681 643 chr9:117819468:T:C 6606_4543_1515_I->V 0.000199681 643 chr9:117819512:G:C 6606_4499_1500_P->R 0.000199681 643 chr9:117819539:C:T 6606_4472_1491_R->Q 0.000399361 643 chr9:117819645:G:C 6606_4366_1456_L->V 0.000199681 643 chr9:117819647:T:C 6606_4364_1455_N->S 0.000599042 643 chr9:117822087:C:A 6606_4228_1410_A->S 0.000199681 643 chr9:117822239:C:T 6606_4076_1359_G->D 0.000199681 643 chr9:117822242:A:T 6606_4073_1358_V->D 0.000199681 643 chr9:117822252:C:T 6606_4063_1355_V->M 0.000399361 643 chr9:117825222:C:T 6606_4007_1336_R->Q 0.000199681 643 chr9:117825372:A:G 6606_3857_1286_F->S 0.000998403 643 chr9:117825396:G:A 6606_3833_1278_T->M 0.000199681 643 chr9:117826096:G:T 6606_3739_1247_L->I 0.00658946 643 chr9:117826128:C:T 6606_3707_1236_R->H 0.000199681 643 chr9:117826150:T:C 6606_3685_1229_T->A 0.000199681 643 chr9:117826161:A:G 6606_3674_1225_L->P 0.000199681 643 chr9:117826217:C:G 6606_3618_1206_E->D 0.000199681 643 chr9:117826246:T:C 6606_3589_1197_I->V 0.000199681 643 chr9:117826285:T:G 6606_3550_1184_N->H 0.000199681 643 chr9:117827001:T:C 6606_3412_1138_T->A 0.000199681 643 chr9:117827038:G:T 6606_3375_1125_S->R 0.00898562 643 chr9:117827049:C:T 6606_3364_1122_V->M 0.000199681 643 chr9:117827060:C:T 6606_3353_1118_R->Q 0.013778 643 chr9:117827061:G:A 6606_3352_1118_R->W 0.000399361 643 chr9:117827111:T:C 6606_3302_1101_Y->C 0.000199681 643 chr9:117827127:C:T 6606_3286_1096_A->T 0.00159744 643 chr9:117827196:G:T 6606_3217_1073_Q->K 0.000199681 643 chr9:117835899:C:T 6606_3197_1066_R->H 0.118211 643 chr9:117835900:G:A 6606_3196_1066_R->C 0.000199681 643 chr9:117835947:T:G 6606_3149_1050_N->T 0.000199681 643 chr9:117836018:C:G 6606_3078_1026_W->C 0.000199681 643 chr9:117838331:G:A 6606_2930_977_A->V 0.000199681 643 chr9:117838677:G:A 6606_2852_951_T->I 0.000199681 643 chr9:117838716:A:G 6606_2813_938_V->A 0.000599042 643 chr9:117838806:C:T 6606_2723_908_S->N 0.000199681 643 chr9:117838824:A:T 6606_2705_902_V->D 0.000199681 643 chr9:117838852:G:A 6606_2677_893_L->F 0.000199681 643 chr9:117840255:A:C 6606_2641_881_S->A 0.000199681 643 chr9:117840276:T:C 6606_2620_874_I->V 0.0133786 643 chr9:117840315:C:G 6606_2581_861_G->R 0.000199681 643 chr9:117840345:G:C 6606_2551_851_L->V 0.000199681 643 chr9:117840348:C:G 6606_2548_850_D->H 0.000399361 643 chr9:117840351:T:C 6606_2545_849_I->V 0.000199681 643 chr9:117840359:C:T 6606_2537_846_R->H 0.000399361 643 chr9:117840405:C:T 6606_2491_831_D->N 0.000399361 643 chr9:117844063:C:A 6606_2392_798_V->L 0.000199681 643 chr9:117844083:C:T 6606_2372_791_R->Q 0.000199681 643 chr9:117844115:C:A 6606_2340_780_E->D 0.0 643 chr9:117844149:C:T 6606_2306_769_R->Q 0.000199681 643 chr9:117844183:T:C 6606_2272_758_T->A 0.000199681 643 chr9:117844978:C:T 6606_2240_747_R->Q 0.000399361 643 chr9:117845011:T:C 6606_2207_736_D->G 0.0171725 643 chr9:117846499:C:G 6606_2120_707_R->T 0.00139776 643 chr9:117846580:T:C 6606_2039_680_Q->R 0.449681 643 chr9:117846613:C:T 6606_2006_669_R->H 0.000199681 643 chr9:117846676:C:T 6606_1943_648_R->Q 0.000599042 643 chr9:117846677:G:A 6606_1942_648_R->W 0.000399361 643 chr9:117846685:T:C 6606_1934_645_N->S 0.000199681 643 chr9:117846711:T:G 6606_1908_636_E->D 0.000199681 643 chr9:117846731:C:T 6606_1888_630_V->I 0.000199681 643 chr9:117846739:T:C 6606_1880_627_K->R 0.000199681 643 chr9:117848146:C:G 6606_1864_622_E->Q 0.000199681 643 chr9:117848162:G:T 6606_1848_616_S->R 0.000199681 643 chr9:117848197:C:T 6606_1813_605_V->I 0.0896565 643 chr9:117848295:C:T 6606_1715_572_R->H 0.000199681 643 chr9:117848368:C:T 6606_1642_548_V->M 0.00638978 643 chr9:117848376:C:A 6606_1634_545_G->V 0.000599042 643 chr9:117848394:T:C 6606_1616_539_Q->R 0.052316 643 chr9:117848440:C:T 6606_1570_524_G->S 0.000199681 643 chr9:117848470:C:T 6606_1540_514_G->R 0.000199681 643 chr9:117848502:C:T 6606_1508_503_R->K 0.00459265 643 chr9:117848520:C:T 6606_1490_497_R->Q 0.000199681 643 chr9:117848533:C:T 6606_1477_493_G->R 0.000599042 643 chr9:117848578:C:T 6606_1432_478_G->S 0.000199681 643 chr9:117848603:G:C 6606_1407_469_S->R 0.000199681 643 chr9:117848668:G:C 6606_1342_448_R->G 0.00199681 643 chr9:117848670:C:T 6606_1340_447_G->D 0.000199681 643 chr9:117848680:G:A 6606_1330_444_H->Y 0.000199681 643 chr9:117848688:T:C 6606_1322_441_N->S 0.00219649 643 chr9:117848749:C:A 6606_1261_421_G->W 0.000199681 643 chr9:117848784:G:A 6606_1226_409_P->L 0.000199681 643 chr9:117848785:G:T 6606_1225_409_P->T 0.000399361 643 chr9:117848820:C:T 6606_1190_397_G->D 0.000199681 643 chr9:117848838:C:T 6606_1172_391_R->Q 0.000199681 643 chr9:117848842:C:T 6606_1168_390_G->R 0.000399361 643 chr9:117848853:C:T 6606_1157_386_R->H 0.000199681 643 chr9:117848860:G:A 6606_1150_384_R->C 0.000199681 643 chr9:117849060:T:C 6606_950_317_N->S 0.000199681 643 chr9:117849168:T:C 6606_842_281_K->R 0.000399361 643 chr9:117849229:C:T 6606_781_261_G->S 0.0111821 643 chr9:117849280:C:T 6606_730_244_G->R 0.000199681 643 chr9:117849340:C:T 6606_670_224_D->N 0.000199681 643 chr9:117849373:C:T 6606_637_213_G->S 0.00638978 643 chr9:117849382:C:T 6606_628_210_G->S 0.00119808 643 chr9:117849385:C:T 6606_625_209_D->N 0.000199681 643 chr9:117849403:C:T 6606_607_203_G->R 0.000199681 643 chr9:117849420:C:T 6606_590_197_R->Q 0.000798722 643 chr9:117849499:C:G 6606_511_171_G->R 0.000798722 643 chr9:117849504:G:A 6606_506_169_T->I 0.000199681 643 chr9:117852855:A:G 6606_443_148_L->P 0.00239617 643 chr9:117852864:C:A 6606_434_145_G->V 0.00319489 643 chr9:117852955:C:T 6606_343_115_A->T 0.000399361 643 chr9:117852970:C:A 6606_328_110_A->S 0.000199681 643 chr9:117852973:G:A 6606_325_109_R->W 0.000199681 643 chr9:117852975:C:T 6606_323_108_R->H 0.000199681 643 chr9:117853098:T:C 6606_200_67_D->G 0.000199681 643 chr9:117853189:C:T 6606_109_37_V->M 0.000798722 643 chr9:117853200:C:T 6606_98_33_R->Q 0.000599042 643 chr9:117853237:C:T 6606_61_21_E->K 0.000798722 643 na12878 Variants: 643 chr9:117792583:C:G 6606_6022_2008_E->Q 643 chr9:117846580:T:C 6606_2039_680_Q->R 643 chr9:117848394:T:C 6606_1616_539_Q->R 643 snyder Variants: 643 chr9:117792583:C:G 6606_6022_2008_E->Q 643 chr9:117846580:T:C 6606_2039_680_Q->R 643 chr9:117848394:T:C 6606_1616_539_Q->R 644 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000041982_ENST00000537320 gene_Name: TENA_HUMAN 644 list of pdbs: 644 2RBL pdb_description: 20-Nov-07 X-ray 2.100 High resolution design of a protein loop 644 2RB8 pdb_description: 20-Nov-07 X-ray 1.450 High resolution design of a protein loop 644 1TEN pdb_description: 31-Oct-93 X-ray 1.800 Structure of a fibronectin type iii domain from tenascin pha analysis of the selenomethionyl protein 644 Zimmer Variants: 644 chr9:117792583:C:G 4695_4111_1371_E->Q 644 chr9:117846580:T:C 4695_2039_680_Q->R 644 chr9:117848394:T:C 4695_1616_539_Q->R 644 HGMD Variants: 644 chr9:117803226:T:A 4695_3475_1159_T->S 644 chr9:117803271:C:T 4695_3430_1144_A->T 644 chr9:117803295:C:T 4695_3406_1136_V->M 644 chr9:117852975:C:T 4695_323_108_R->H 644 oneKG Variants: 644 chr9:117783449:C:T 4695_4682_1561_R->H 0.000998403 644 chr9:117783513:G:A 4695_4618_1540_H->Y 0.000199681 644 chr9:117783543:C:T 4695_4588_1530_V->I 0.00339457 644 chr9:117786265:T:C 4695_4571_1524_N->S 0.00459265 644 chr9:117786295:C:T 4695_4541_1514_R->H 0.000199681 644 chr9:117786369:G:C 4695_4467_1489_D->E 0.000199681 644 chr9:117788852:G:A 4695_4381_1461_R->C 0.000199681 644 chr9:117788908:T:C 4695_4325_1442_H->R 0.000199681 644 chr9:117791660:G:A 4695_4237_1413_R->C 0.000199681 644 chr9:117791686:T:G 4695_4211_1404_K->T 0.000199681 644 chr9:117792579:G:A 4695_4115_1372_A->V 0.000199681 644 chr9:117792582:T:G 4695_4112_1371_E->A 0.000199681 644 chr9:117792583:C:G 4695_4111_1371_E->Q 0.331869 644 chr9:117792684:A:G 4695_4010_1337_I->T 0.000199681 644 chr9:117793942:G:A 4695_3899_1300_T->I 0.000199681 644 chr9:117793951:C:T 4695_3890_1297_G->D 0.000199681 644 chr9:117797508:T:C 4695_3851_1284_Y->C 0.000199681 644 chr9:117797538:C:T 4695_3821_1274_R->Q 0.000599042 644 chr9:117797544:G:A 4695_3815_1272_P->L 0.000599042 644 chr9:117797573:C:A 4695_3786_1262_Q->H 0.000199681 644 chr9:117797598:C:T 4695_3761_1254_R->K 0.000399361 644 chr9:117798418:C:G 4695_3704_1235_G->A 0.00239617 644 chr9:117800563:A:C 4695_3578_1193_V->G 0.000199681 644 chr9:117803238:A:C 4695_3463_1155_S->A 0.000199681 644 chr9:117803271:C:T 4695_3430_1144_A->T 0.0820687 644 chr9:117803295:C:T 4695_3406_1136_V->M 0.000199681 644 chr9:117803337:C:T 4695_3364_1122_G->R 0.000199681 644 chr9:117804572:G:A 4695_3263_1088_S->L 0.000599042 644 chr9:117835899:C:T 4695_3197_1066_R->H 0.118211 644 chr9:117835900:G:A 4695_3196_1066_R->C 0.000199681 644 chr9:117835947:T:G 4695_3149_1050_N->T 0.000199681 644 chr9:117836018:C:G 4695_3078_1026_W->C 0.000199681 644 chr9:117838331:G:A 4695_2930_977_A->V 0.000199681 644 chr9:117838677:G:A 4695_2852_951_T->I 0.000199681 644 chr9:117838716:A:G 4695_2813_938_V->A 0.000599042 644 chr9:117838806:C:T 4695_2723_908_S->N 0.000199681 644 chr9:117838824:A:T 4695_2705_902_V->D 0.000199681 644 chr9:117838852:G:A 4695_2677_893_L->F 0.000199681 644 chr9:117840255:A:C 4695_2641_881_S->A 0.000199681 644 chr9:117840276:T:C 4695_2620_874_I->V 0.0133786 644 chr9:117840315:C:G 4695_2581_861_G->R 0.000199681 644 chr9:117840345:G:C 4695_2551_851_L->V 0.000199681 644 chr9:117840348:C:G 4695_2548_850_D->H 0.000399361 644 chr9:117840351:T:C 4695_2545_849_I->V 0.000199681 644 chr9:117840359:C:T 4695_2537_846_R->H 0.000399361 644 chr9:117840405:C:T 4695_2491_831_D->N 0.000399361 644 chr9:117844063:C:A 4695_2392_798_V->L 0.000199681 644 chr9:117844083:C:T 4695_2372_791_R->Q 0.000199681 644 chr9:117844115:C:A 4695_2340_780_E->D 0.0 644 chr9:117844149:C:T 4695_2306_769_R->Q 0.000199681 644 chr9:117844183:T:C 4695_2272_758_T->A 0.000199681 644 chr9:117844978:C:T 4695_2240_747_R->Q 0.000399361 644 chr9:117845011:T:C 4695_2207_736_D->G 0.0171725 644 chr9:117846499:C:G 4695_2120_707_R->T 0.00139776 644 chr9:117846580:T:C 4695_2039_680_Q->R 0.449681 644 chr9:117846613:C:T 4695_2006_669_R->H 0.000199681 644 chr9:117846676:C:T 4695_1943_648_R->Q 0.000599042 644 chr9:117846677:G:A 4695_1942_648_R->W 0.000399361 644 chr9:117846685:T:C 4695_1934_645_N->S 0.000199681 644 chr9:117846711:T:G 4695_1908_636_E->D 0.000199681 644 chr9:117846731:C:T 4695_1888_630_V->I 0.000199681 644 chr9:117846739:T:C 4695_1880_627_K->R 0.000199681 644 chr9:117848146:C:G 4695_1864_622_E->Q 0.000199681 644 chr9:117848162:G:T 4695_1848_616_S->R 0.000199681 644 chr9:117848197:C:T 4695_1813_605_V->I 0.0896565 644 chr9:117848295:C:T 4695_1715_572_R->H 0.000199681 644 chr9:117848368:C:T 4695_1642_548_V->M 0.00638978 644 chr9:117848376:C:A 4695_1634_545_G->V 0.000599042 644 chr9:117848394:T:C 4695_1616_539_Q->R 0.052316 644 chr9:117848440:C:T 4695_1570_524_G->S 0.000199681 644 chr9:117848470:C:T 4695_1540_514_G->R 0.000199681 644 chr9:117848502:C:T 4695_1508_503_R->K 0.00459265 644 chr9:117848520:C:T 4695_1490_497_R->Q 0.000199681 644 chr9:117848533:C:T 4695_1477_493_G->R 0.000599042 644 chr9:117848578:C:T 4695_1432_478_G->S 0.000199681 644 chr9:117848603:G:C 4695_1407_469_S->R 0.000199681 644 chr9:117848668:G:C 4695_1342_448_R->G 0.00199681 644 chr9:117848670:C:T 4695_1340_447_G->D 0.000199681 644 chr9:117848680:G:A 4695_1330_444_H->Y 0.000199681 644 chr9:117848688:T:C 4695_1322_441_N->S 0.00219649 644 chr9:117848749:C:A 4695_1261_421_G->W 0.000199681 644 chr9:117848784:G:A 4695_1226_409_P->L 0.000199681 644 chr9:117848785:G:T 4695_1225_409_P->T 0.000399361 644 chr9:117848820:C:T 4695_1190_397_G->D 0.000199681 644 chr9:117848838:C:T 4695_1172_391_R->Q 0.000199681 644 chr9:117848842:C:T 4695_1168_390_G->R 0.000399361 644 chr9:117848853:C:T 4695_1157_386_R->H 0.000199681 644 chr9:117848860:G:A 4695_1150_384_R->C 0.000199681 644 chr9:117849060:T:C 4695_950_317_N->S 0.000199681 644 chr9:117849168:T:C 4695_842_281_K->R 0.000399361 644 chr9:117849229:C:T 4695_781_261_G->S 0.0111821 644 chr9:117849280:C:T 4695_730_244_G->R 0.000199681 644 chr9:117849340:C:T 4695_670_224_D->N 0.000199681 644 chr9:117849373:C:T 4695_637_213_G->S 0.00638978 644 chr9:117849382:C:T 4695_628_210_G->S 0.00119808 644 chr9:117849385:C:T 4695_625_209_D->N 0.000199681 644 chr9:117849403:C:T 4695_607_203_G->R 0.000199681 644 chr9:117849420:C:T 4695_590_197_R->Q 0.000798722 644 chr9:117849499:C:G 4695_511_171_G->R 0.000798722 644 chr9:117849504:G:A 4695_506_169_T->I 0.000199681 644 chr9:117852855:A:G 4695_443_148_L->P 0.00239617 644 chr9:117852864:C:A 4695_434_145_G->V 0.00319489 644 chr9:117852955:C:T 4695_343_115_A->T 0.000399361 644 chr9:117852970:C:A 4695_328_110_A->S 0.000199681 644 chr9:117852973:G:A 4695_325_109_R->W 0.000199681 644 chr9:117852975:C:T 4695_323_108_R->H 0.000199681 644 chr9:117853098:T:C 4695_200_67_D->G 0.000199681 644 chr9:117853189:C:T 4695_109_37_V->M 0.000798722 644 chr9:117853200:C:T 4695_98_33_R->Q 0.000599042 644 chr9:117853237:C:T 4695_61_21_E->K 0.000798722 644 na12878 Variants: 644 chr9:117792583:C:G 4695_4111_1371_E->Q 644 chr9:117846580:T:C 4695_2039_680_Q->R 644 chr9:117848394:T:C 4695_1616_539_Q->R 644 snyder Variants: 644 chr9:117792583:C:G 4695_4111_1371_E->Q 644 chr9:117846580:T:C 4695_2039_680_Q->R 644 chr9:117848394:T:C 4695_1616_539_Q->R 645 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148204_ENST00000359999 gene_Name: CRUM2_HUMAN 645 list of pdbs: 645 2WO6 pdb_description: 18-Aug-09 X-ray 2.500 Human dual-specificity tyrosine-phosphorylation-regulated kinase 1a in complex with a consensus substrate peptide 645 Zimmer Variants: 645 chr9:126128253:G:C 3531_476_159_G->A;GENE=CRB2;CANG=[DNA_repair];CDSS=2;DBRECUR=CRB2 645 chr9:126136139:C:T 3531_3329_1110_T->M 645 chr9:126125318:C:A 3531_269_90_T->N;GENE=CRB2;CANG=[DNA_repair];CDSS=1;DBRECUR=CRB2 645 chr9:126128211:T:C 3531_434_145_M->T;GENE=CRB2;CANG=[DNA_repair];CDSS=1;DBRECUR=CRB2 645 chr9:126133547:T:C 3531_2126_709_V->A 645 chr9:126136247:A:G 3531_3437_1146_Y->C;GENE=CRB2;CANG=[DNA_repair];CDSS=1;DBRECUR=CRB2 645 HGMD Variants: 645 chr9:126133698:G:A 3531_2277_759_W->* 645 chr9:126133191:G:C 3531_1859_620_C->S 645 chr9:126133214:C:T 3531_1882_628_R->C 645 chr9:126133218:G:C 3531_1886_629_C->S 645 chr9:126133229:C:T 3531_1897_633_R->W 645 chr9:126133349:A:C 3531_1928_643_E->A 645 chr9:126133821:C:G 3531_2400_800_N->K 645 oneKG Variants: 645 chr9:126118544:C:T 3531_5_2_A->V 0.000399361 645 chr9:126118577:C:T 3531_38_13_A->V 0.00119808 645 chr9:126125186:C:T 3531_137_46_P->L 0.00599042 645 chr9:126125191:G:A 3531_142_48_A->T 0.00159744 645 chr9:126125254:C:T 3531_205_69_R->W 0.00559105 645 chr9:126125318:C:A 3531_269_90_T->N 0.002995 645 chr9:126125326:C:T 3531_277_93_R->C 0.000199681 645 chr9:126125327:G:A 3531_278_93_R->H 0.00299521 645 chr9:126125352:G:C 3531_303_101_Q->H 0.000199681 645 chr9:126125359:C:T 3531_310_104_R->C 0.000199681 645 chr9:126125360:G:A 3531_311_104_R->H 0.000199681 645 chr9:126125379:T:A 3531_330_110_D->E 0.000199681 645 chr9:126125434:C:T 3531_385_129_R->C 0.000199681 645 chr9:126125435:G:A 3531_386_129_R->H 0.000199681 645 chr9:126128196:G:A 3531_419_140_G->D 0.000199681 645 chr9:126128211:T:C 3531_434_145_M->T 0.375399 645 chr9:126128253:G:C 3531_476_159_G->A 0.315895 645 chr9:126128262:T:C 3531_485_162_L->P 0.000199681 645 chr9:126128274:G:T 3531_497_166_G->V 0.000199681 645 chr9:126128335:C:G 3531_558_186_D->E 0.000199681 645 chr9:126128526:G:A 3531_635_212_G->D 0.000199681 645 chr9:126128552:G:A 3531_661_221_E->K 0.000399361 645 chr9:126128628:G:A 3531_737_246_R->H 0.000599042 645 chr9:126129531:C:T 3531_835_279_R->C 0.000199681 645 chr9:126129541:C:T 3531_845_282_P->L 0.000798722 645 chr9:126129579:G:A,T 3531_883_295_A->T,2 0.00159744 645 chr9:126129579:G:A,T 3531_883_295_A->S 0.00159744 645 chr9:126129601:C:T 3531_905_302_A->V 0.000199681 645 chr9:126129855:C:T 3531_944_315_A->V 0.000199681 645 chr9:126129857:G:A 3531_946_316_D->N 0.000199681 645 chr9:126129890:C:T 3531_979_327_R->W 0.000199681 645 chr9:126129930:A:G 3531_1019_340_N->S 0.000399361 645 chr9:126132406:T:A 3531_1074_358_D->E 0.000199681 645 chr9:126132429:C:T 3531_1097_366_P->L 0.000199681 645 chr9:126132506:G:A 3531_1174_392_D->N 0.000199681 645 chr9:126132549:C:T 3531_1217_406_P->L 0.00259585 645 chr9:126132617:G:C 3531_1285_429_G->R 0.000199681 645 chr9:126132630:C:T 3531_1298_433_P->L 0.000998403 645 chr9:126132698:G:C 3531_1366_456_G->R 0.000199681 645 chr9:126132765:A:G 3531_1433_478_N->S 0.000199681 645 chr9:126132785:G:C 3531_1453_485_E->Q 0.00179712 645 chr9:126132826:G:T 3531_1494_498_W->C 0.000399361 645 chr9:126132861:C:G 3531_1529_510_P->R 0.000199681 645 chr9:126132882:G:A 3531_1550_517_G->D 0.000199681 645 chr9:126132918:C:T 3531_1586_529_A->V 0.000599042 645 chr9:126132999:C:T 3531_1667_556_T->M 0.000199681 645 chr9:126133005:C:T 3531_1673_558_S->L 0.000199681 645 chr9:126133056:C:A 3531_1724_575_T->N 0.000399361 645 chr9:126133083:G:A 3531_1751_584_R->H 0.000199681 645 chr9:126133149:G:A 3531_1817_606_R->Q 0.00119808 645 chr9:126133160:C:T 3531_1828_610_R->W 0.00299521 645 chr9:126133214:C:T 3531_1882_628_R->C 0.000199681 645 chr9:126133253:G:A 3531_1921_641_A->T 0.000199681 645 chr9:126133465:G:A 3531_2044_682_A->T 0.000399361 645 chr9:126133490:A:G 3531_2069_690_N->S 0.000199681 645 chr9:126133537:C:T 3531_2116_706_R->W 0.000199681 645 chr9:126133547:T:C 3531_2126_709_V->A 0.003395 645 chr9:126133597:C:T 3531_2176_726_R->C 0.000199681 645 chr9:126133785:C:G 3531_2364_788_S->R 0.000199681 645 chr9:126133797:G:T 3531_2376_792_E->D 0.00898562 645 chr9:126133845:G:C 3531_2424_808_E->D 0.000798722 645 chr9:126134538:C:G 3531_2519_840_P->R 0.000798722 645 chr9:126135416:T:C 3531_2606_869_V->A 0.000399361 645 chr9:126135463:C:T 3531_2653_885_H->Y 0.000399361 645 chr9:126135469:G:A 3531_2659_887_A->T 0.000399361 645 chr9:126135478:G:A 3531_2668_890_G->R 0.00279553 645 chr9:126135481:C:G 3531_2671_891_R->G 0.000199681 645 chr9:126135490:G:A 3531_2680_894_G->S 0.00878594 645 chr9:126135544:G:A 3531_2734_912_A->T 0.000199681 645 chr9:126135599:C:T 3531_2789_930_A->V 0.00119808 645 chr9:126135664:G:A 3531_2854_952_A->T 0.000599042 645 chr9:126135707:C:T 3531_2897_966_P->L 0.000199681 645 chr9:126135715:A:G 3531_2905_969_T->A 0.023762 645 chr9:126135877:C:G 3531_3067_1023_P->A 0.000199681 645 chr9:126135938:C:T 3531_3128_1043_S->F 0.000199681 645 chr9:126136076:C:T 3531_3266_1089_P->L 0.000199681 645 chr9:126136084:G:A 3531_3274_1092_E->K 0.000199681 645 chr9:126136135:C:G 3531_3325_1109_H->D 0.00479233 645 chr9:126136139:C:T 3531_3329_1110_T->M 0.105831 645 chr9:126136183:G:T 3531_3373_1125_G->W 0.000998403 645 chr9:126136199:G:A 3531_3389_1130_R->K 0.000199681 645 chr9:126136212:G:C 3531_3402_1134_W->C 0.000399361 645 chr9:126136229:C:G 3531_3419_1140_A->G 0.000399361 645 chr9:126136247:A:G 3531_3437_1146_Y->C 0.449081 645 na12878 Variants: 645 chr9:126128253:G:C 3531_476_159_G->A 645 chr9:126125318:C:A 3531_269_90_T->N 645 chr9:126128211:T:C 3531_434_145_M->T 645 chr9:126133547:T:C 3531_2126_709_V->A 645 snyder Variants: 645 chr9:126128253:G:C 3531_476_159_G->A 645 chr9:126125318:C:A 3531_269_90_T->N 645 chr9:126133547:T:C 3531_2126_709_V->A 646 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148204_ENST00000373631 gene_Name: CRUM2_HUMAN 646 list of pdbs: 646 2WO6 pdb_description: 18-Aug-09 X-ray 2.500 Human dual-specificity tyrosine-phosphorylation-regulated kinase 1a in complex with a consensus substrate peptide 646 Zimmer Variants: 646 chr9:126128253:G:C 3858_476_159_G->A 646 chr9:126136139:C:T 3858_3329_1110_T->M 646 chr9:126125318:C:A 3858_269_90_T->N 646 chr9:126128211:T:C 3858_434_145_M->T 646 chr9:126133547:T:C 3858_2126_709_V->A 646 HGMD Variants: 646 chr9:126133698:G:A 3858_2277_759_W->* 646 chr9:126133191:G:C 3858_1859_620_C->S 646 chr9:126133214:C:T 3858_1882_628_R->C 646 chr9:126133218:G:C 3858_1886_629_C->S 646 chr9:126133229:C:T 3858_1897_633_R->W 646 chr9:126133349:A:C 3858_1928_643_E->A 646 chr9:126133821:C:G 3858_2400_800_N->K 646 chr9:126139229:G:A 3858_3746_1249_R->Q 646 oneKG Variants: 646 chr9:126118544:C:T 3858_5_2_A->V 0.000399361 646 chr9:126118577:C:T 3858_38_13_A->V 0.00119808 646 chr9:126125186:C:T 3858_137_46_P->L 0.00599042 646 chr9:126125191:G:A 3858_142_48_A->T 0.00159744 646 chr9:126125254:C:T 3858_205_69_R->W 0.00559105 646 chr9:126125318:C:A 3858_269_90_T->N 0.002995 646 chr9:126125326:C:T 3858_277_93_R->C 0.000199681 646 chr9:126125327:G:A 3858_278_93_R->H 0.00299521 646 chr9:126125352:G:C 3858_303_101_Q->H 0.000199681 646 chr9:126125359:C:T 3858_310_104_R->C 0.000199681 646 chr9:126125360:G:A 3858_311_104_R->H 0.000199681 646 chr9:126125379:T:A 3858_330_110_D->E 0.000199681 646 chr9:126125434:C:T 3858_385_129_R->C 0.000199681 646 chr9:126125435:G:A 3858_386_129_R->H 0.000199681 646 chr9:126128196:G:A 3858_419_140_G->D 0.000199681 646 chr9:126128211:T:C 3858_434_145_M->T 0.375399 646 chr9:126128253:G:C 3858_476_159_G->A 0.315895 646 chr9:126128262:T:C 3858_485_162_L->P 0.000199681 646 chr9:126128274:G:T 3858_497_166_G->V 0.000199681 646 chr9:126128335:C:G 3858_558_186_D->E 0.000199681 646 chr9:126128526:G:A 3858_635_212_G->D 0.000199681 646 chr9:126128552:G:A 3858_661_221_E->K 0.000399361 646 chr9:126128628:G:A 3858_737_246_R->H 0.000599042 646 chr9:126129531:C:T 3858_835_279_R->C 0.000199681 646 chr9:126129541:C:T 3858_845_282_P->L 0.000798722 646 chr9:126129579:G:A,T 3858_883_295_A->T 0.00159744 646 chr9:126129579:G:A,T 3858_883_295_A->S 0.00159744 646 chr9:126129601:C:T 3858_905_302_A->V 0.000199681 646 chr9:126129855:C:T 3858_944_315_A->V 0.000199681 646 chr9:126129857:G:A 3858_946_316_D->N 0.000199681 646 chr9:126129890:C:T 3858_979_327_R->W 0.000199681 646 chr9:126129930:A:G 3858_1019_340_N->S 0.000399361 646 chr9:126132406:T:A 3858_1074_358_D->E 0.000199681 646 chr9:126132429:C:T 3858_1097_366_P->L 0.000199681 646 chr9:126132506:G:A 3858_1174_392_D->N 0.000199681 646 chr9:126132549:C:T 3858_1217_406_P->L 0.00259585 646 chr9:126132617:G:C 3858_1285_429_G->R 0.000199681 646 chr9:126132630:C:T 3858_1298_433_P->L 0.000998403 646 chr9:126132698:G:C 3858_1366_456_G->R 0.000199681 646 chr9:126132765:A:G 3858_1433_478_N->S 0.000199681 646 chr9:126132785:G:C 3858_1453_485_E->Q 0.00179712 646 chr9:126132826:G:T 3858_1494_498_W->C 0.000399361 646 chr9:126132861:C:G 3858_1529_510_P->R 0.000199681 646 chr9:126132882:G:A 3858_1550_517_G->D 0.000199681 646 chr9:126132918:C:T 3858_1586_529_A->V 0.000599042 646 chr9:126132999:C:T 3858_1667_556_T->M 0.000199681 646 chr9:126133005:C:T 3858_1673_558_S->L 0.000199681 646 chr9:126133056:C:A 3858_1724_575_T->N 0.000399361 646 chr9:126133083:G:A 3858_1751_584_R->H 0.000199681 646 chr9:126133149:G:A 3858_1817_606_R->Q 0.00119808 646 chr9:126133160:C:T 3858_1828_610_R->W 0.00299521 646 chr9:126133214:C:T 3858_1882_628_R->C 0.000199681 646 chr9:126133253:G:A 3858_1921_641_A->T 0.000199681 646 chr9:126133465:G:A 3858_2044_682_A->T 0.000399361 646 chr9:126133490:A:G 3858_2069_690_N->S 0.000199681 646 chr9:126133537:C:T 3858_2116_706_R->W 0.000199681 646 chr9:126133547:T:C 3858_2126_709_V->A 0.003395 646 chr9:126133597:C:T 3858_2176_726_R->C 0.000199681 646 chr9:126133785:C:G 3858_2364_788_S->R 0.000199681 646 chr9:126133797:G:T 3858_2376_792_E->D 0.00898562 646 chr9:126133845:G:C 3858_2424_808_E->D 0.000798722 646 chr9:126134538:C:G 3858_2519_840_P->R 0.000798722 646 chr9:126135416:T:C 3858_2606_869_V->A 0.000399361 646 chr9:126135463:C:T 3858_2653_885_H->Y 0.000399361 646 chr9:126135469:G:A 3858_2659_887_A->T 0.000399361 646 chr9:126135478:G:A 3858_2668_890_G->R 0.00279553 646 chr9:126135481:C:G 3858_2671_891_R->G 0.000199681 646 chr9:126135490:G:A 3858_2680_894_G->S 0.00878594 646 chr9:126135544:G:A 3858_2734_912_A->T 0.000199681 646 chr9:126135599:C:T 3858_2789_930_A->V 0.00119808 646 chr9:126135664:G:A 3858_2854_952_A->T 0.000599042 646 chr9:126135707:C:T 3858_2897_966_P->L 0.000199681 646 chr9:126135715:A:G 3858_2905_969_T->A 0.023762 646 chr9:126135877:C:G 3858_3067_1023_P->A 0.000199681 646 chr9:126135938:C:T 3858_3128_1043_S->F 0.000199681 646 chr9:126136076:C:T 3858_3266_1089_P->L 0.000199681 646 chr9:126136084:G:A 3858_3274_1092_E->K 0.000199681 646 chr9:126136135:C:G 3858_3325_1109_H->D 0.00479233 646 chr9:126136139:C:T 3858_3329_1110_T->M 0.105831 646 chr9:126136183:G:T 3858_3373_1125_G->W 0.000998403 646 chr9:126136199:G:A 3858_3389_1130_R->K 0.000199681 646 chr9:126136901:C:T 3858_3433_1145_L->F 0.000399361 646 chr9:126136916:T:C 3858_3448_1150_C->R 0.000399361 646 chr9:126136934:G:A 3858_3466_1156_A->T 0.00319489 646 chr9:126136973:A:G 3858_3505_1169_R->G 0.000599042 646 chr9:126137558:C:T 3858_3569_1190_A->V 0.000199681 646 chr9:126137567:G:A 3858_3578_1193_G->E 0.000199681 646 chr9:126139162:G:A 3858_3679_1227_V->I 0.000798722 646 chr9:126139237:C:T 3858_3754_1252_R->C 0.000199681 646 chr9:126139309:C:T 3858_3826_1276_L->F 0.000199681 646 na12878 Variants: 646 chr9:126128253:G:C 3858_476_159_G->A 646 chr9:126125318:C:A 3858_269_90_T->N 646 chr9:126128211:T:C 3858_434_145_M->T 646 chr9:126133547:T:C 3858_2126_709_V->A 646 snyder Variants: 646 chr9:126128253:G:C 3858_476_159_G->A 646 chr9:126125318:C:A 3858_269_90_T->N 646 chr9:126133547:T:C 3858_2126_709_V->A 647 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148204_ENST00000460253 gene_Name: CRUM2_HUMAN 647 list of pdbs: 647 2WO6 pdb_description: 18-Aug-09 X-ray 2.500 Human dual-specificity tyrosine-phosphorylation-regulated kinase 1a in complex with a consensus substrate peptide 647 Zimmer Variants: 647 chr9:126136139:C:T 2862_2333_778_T->M;GENE=CRB2;CANG=[DNA_repair];CDSS=2;DBRECUR=CRB2 647 chr9:126133547:T:C 2862_1130_377_V->A;GENE=CRB2;CANG=[DNA_repair];CDSS=1;DBRECUR=CRB2 647 HGMD Variants: 647 chr9:126133698:G:A 2862_1281_427_W->* 647 chr9:126133191:G:C 2862_863_288_C->S 647 chr9:126133214:C:T 2862_886_296_R->C 647 chr9:126133218:G:C 2862_890_297_C->S 647 chr9:126133229:C:T 2862_901_301_R->W 647 chr9:126133349:A:C 2862_932_311_E->A 647 chr9:126133821:C:G 2862_1404_468_N->K 647 chr9:126139229:G:A 2862_2750_917_R->Q 647 oneKG Variants: 647 chr9:126131181:C:T 2862_14_5_P->L 0.000199681 647 chr9:126132406:T:A 2862_78_26_D->E 0.000199681 647 chr9:126132429:C:T 2862_101_34_P->L 0.000199681 647 chr9:126132506:G:A 2862_178_60_D->N 0.000199681 647 chr9:126132549:C:T 2862_221_74_P->L 0.00259585 647 chr9:126132617:G:C 2862_289_97_G->R 0.000199681 647 chr9:126132630:C:T 2862_302_101_P->L 0.000998403 647 chr9:126132698:G:C 2862_370_124_G->R 0.000199681 647 chr9:126132765:A:G 2862_437_146_N->S 0.000199681 647 chr9:126132785:G:C 2862_457_153_E->Q 0.00179712 647 chr9:126132826:G:T 2862_498_166_W->C 0.000399361 647 chr9:126132861:C:G 2862_533_178_P->R 0.000199681 647 chr9:126132882:G:A 2862_554_185_G->D 0.000199681 647 chr9:126132918:C:T 2862_590_197_A->V 0.000599042 647 chr9:126132999:C:T 2862_671_224_T->M 0.000199681 647 chr9:126133005:C:T 2862_677_226_S->L 0.000199681 647 chr9:126133056:C:A 2862_728_243_T->N 0.000399361 647 chr9:126133083:G:A 2862_755_252_R->H 0.000199681 647 chr9:126133149:G:A 2862_821_274_R->Q 0.00119808 647 chr9:126133160:C:T 2862_832_278_R->W 0.00299521 647 chr9:126133214:C:T 2862_886_296_R->C 0.000199681 647 chr9:126133253:G:A 2862_925_309_A->T 0.000199681 647 chr9:126133465:G:A 2862_1048_350_A->T 0.000399361 647 chr9:126133490:A:G 2862_1073_358_N->S 0.000199681 647 chr9:126133537:C:T 2862_1120_374_R->W 0.000199681 647 chr9:126133547:T:C 2862_1130_377_V->A 0.003395 647 chr9:126133597:C:T 2862_1180_394_R->C 0.000199681 647 chr9:126133785:C:G 2862_1368_456_S->R 0.000199681 647 chr9:126133797:G:T 2862_1380_460_E->D 0.00898562 647 chr9:126133845:G:C 2862_1428_476_E->D 0.000798722 647 chr9:126134538:C:G 2862_1523_508_P->R 0.000798722 647 chr9:126135416:T:C 2862_1610_537_V->A 0.000399361 647 chr9:126135463:C:T 2862_1657_553_H->Y 0.000399361 647 chr9:126135469:G:A 2862_1663_555_A->T 0.000399361 647 chr9:126135478:G:A 2862_1672_558_G->R 0.00279553 647 chr9:126135481:C:G 2862_1675_559_R->G 0.000199681 647 chr9:126135490:G:A 2862_1684_562_G->S 0.00878594 647 chr9:126135544:G:A 2862_1738_580_A->T 0.000199681 647 chr9:126135599:C:T 2862_1793_598_A->V 0.00119808 647 chr9:126135664:G:A 2862_1858_620_A->T 0.000599042 647 chr9:126135707:C:T 2862_1901_634_P->L 0.000199681 647 chr9:126135715:A:G 2862_1909_637_T->A 0.023762 647 chr9:126135877:C:G 2862_2071_691_P->A 0.000199681 647 chr9:126135938:C:T 2862_2132_711_S->F 0.000199681 647 chr9:126136076:C:T 2862_2270_757_P->L 0.000199681 647 chr9:126136084:G:A 2862_2278_760_E->K 0.000199681 647 chr9:126136135:C:G 2862_2329_777_H->D 0.00479233 647 chr9:126136139:C:T 2862_2333_778_T->M 0.105831 647 chr9:126136183:G:T 2862_2377_793_G->W 0.000998403 647 chr9:126136199:G:A 2862_2393_798_R->K 0.000199681 647 chr9:126136901:C:T 2862_2437_813_L->F 0.000399361 647 chr9:126136916:T:C 2862_2452_818_C->R 0.000399361 647 chr9:126136934:G:A 2862_2470_824_A->T 0.00319489 647 chr9:126136973:A:G 2862_2509_837_R->G 0.000599042 647 chr9:126137558:C:T 2862_2573_858_A->V 0.000199681 647 chr9:126137567:G:A 2862_2582_861_G->E 0.000199681 647 chr9:126139162:G:A 2862_2683_895_V->I 0.000798722 647 chr9:126139237:C:T 2862_2758_920_R->C 0.000199681 647 chr9:126139309:C:T 2862_2830_944_L->F 0.000199681 647 na12878 Variants: 647 chr9:126133547:T:C 2862_1130_377_V->A 647 snyder Variants: 647 chr9:126133547:T:C 2862_1130_377_V->A 648 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000148204_ENST00000373629 gene_Name: CRUM2_HUMAN 648 list of pdbs: 648 2WO6 pdb_description: 18-Aug-09 X-ray 2.500 Human dual-specificity tyrosine-phosphorylation-regulated kinase 1a in complex with a consensus substrate peptide 648 Zimmer Variants: 648 chr9:126136139:C:T 2862_2333_778_T->M 648 chr9:126133547:T:C 2862_1130_377_V->A 648 HGMD Variants: 648 chr9:126133698:G:A 2862_1281_427_W->* 648 chr9:126133191:G:C 2862_863_288_C->S 648 chr9:126133214:C:T 2862_886_296_R->C 648 chr9:126133218:G:C 2862_890_297_C->S 648 chr9:126133229:C:T 2862_901_301_R->W 648 chr9:126133349:A:C 2862_932_311_E->A 648 chr9:126133821:C:G 2862_1404_468_N->K 648 chr9:126139229:G:A 2862_2750_917_R->Q 648 oneKG Variants: 648 chr9:126131181:C:T 2862_14_5_P->L 0.000199681 648 chr9:126132406:T:A 2862_78_26_D->E 0.000199681 648 chr9:126132429:C:T 2862_101_34_P->L 0.000199681 648 chr9:126132506:G:A 2862_178_60_D->N 0.000199681 648 chr9:126132549:C:T 2862_221_74_P->L 0.00259585 648 chr9:126132617:G:C 2862_289_97_G->R 0.000199681 648 chr9:126132630:C:T 2862_302_101_P->L 0.000998403 648 chr9:126132698:G:C 2862_370_124_G->R 0.000199681 648 chr9:126132765:A:G 2862_437_146_N->S 0.000199681 648 chr9:126132785:G:C 2862_457_153_E->Q 0.00179712 648 chr9:126132826:G:T 2862_498_166_W->C 0.000399361 648 chr9:126132861:C:G 2862_533_178_P->R 0.000199681 648 chr9:126132882:G:A 2862_554_185_G->D 0.000199681 648 chr9:126132918:C:T 2862_590_197_A->V 0.000599042 648 chr9:126132999:C:T 2862_671_224_T->M 0.000199681 648 chr9:126133005:C:T 2862_677_226_S->L 0.000199681 648 chr9:126133056:C:A 2862_728_243_T->N 0.000399361 648 chr9:126133083:G:A 2862_755_252_R->H 0.000199681 648 chr9:126133149:G:A 2862_821_274_R->Q 0.00119808 648 chr9:126133160:C:T 2862_832_278_R->W 0.00299521 648 chr9:126133214:C:T 2862_886_296_R->C 0.000199681 648 chr9:126133253:G:A 2862_925_309_A->T 0.000199681 648 chr9:126133465:G:A 2862_1048_350_A->T 0.000399361 648 chr9:126133490:A:G 2862_1073_358_N->S 0.000199681 648 chr9:126133537:C:T 2862_1120_374_R->W 0.000199681 648 chr9:126133547:T:C 2862_1130_377_V->A 0.003395 648 chr9:126133597:C:T 2862_1180_394_R->C 0.000199681 648 chr9:126133785:C:G 2862_1368_456_S->R 0.000199681 648 chr9:126133797:G:T 2862_1380_460_E->D 0.00898562 648 chr9:126133845:G:C 2862_1428_476_E->D 0.000798722 648 chr9:126134538:C:G 2862_1523_508_P->R 0.000798722 648 chr9:126135416:T:C 2862_1610_537_V->A 0.000399361 648 chr9:126135463:C:T 2862_1657_553_H->Y 0.000399361 648 chr9:126135469:G:A 2862_1663_555_A->T 0.000399361 648 chr9:126135478:G:A 2862_1672_558_G->R 0.00279553 648 chr9:126135481:C:G 2862_1675_559_R->G 0.000199681 648 chr9:126135490:G:A 2862_1684_562_G->S 0.00878594 648 chr9:126135544:G:A 2862_1738_580_A->T 0.000199681 648 chr9:126135599:C:T 2862_1793_598_A->V 0.00119808 648 chr9:126135664:G:A 2862_1858_620_A->T 0.000599042 648 chr9:126135707:C:T 2862_1901_634_P->L 0.000199681 648 chr9:126135715:A:G 2862_1909_637_T->A 0.023762 648 chr9:126135877:C:G 2862_2071_691_P->A 0.000199681 648 chr9:126135938:C:T 2862_2132_711_S->F 0.000199681 648 chr9:126136076:C:T 2862_2270_757_P->L 0.000199681 648 chr9:126136084:G:A 2862_2278_760_E->K 0.000199681 648 chr9:126136135:C:G 2862_2329_777_H->D 0.00479233 648 chr9:126136139:C:T 2862_2333_778_T->M 0.105831 648 chr9:126136183:G:T 2862_2377_793_G->W 0.000998403 648 chr9:126136199:G:A 2862_2393_798_R->K 0.000199681 648 chr9:126136901:C:T 2862_2437_813_L->F 0.000399361 648 chr9:126136916:T:C 2862_2452_818_C->R 0.000399361 648 chr9:126136934:G:A 2862_2470_824_A->T 0.00319489 648 chr9:126136973:A:G 2862_2509_837_R->G 0.000599042 648 chr9:126137558:C:T 2862_2573_858_A->V 0.000199681 648 chr9:126137567:G:A 2862_2582_861_G->E 0.000199681 648 chr9:126139162:G:A 2862_2683_895_V->I 0.000798722 648 chr9:126139237:C:T 2862_2758_920_R->C 0.000199681 648 chr9:126139309:C:T 2862_2830_944_L->F 0.000199681 648 na12878 Variants: 648 chr9:126133547:T:C 2862_1130_377_V->A 648 snyder Variants: 648 chr9:126133547:T:C 2862_1130_377_V->A 649 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000165140_ENST00000375326 gene_Name: F16P1_HUMAN 649 list of pdbs: 649 3KC1 pdb_description: 02-Feb-10 X-ray 2.250 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 19a 649 3KC0 pdb_description: 02-Feb-10 X-ray 2.800 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 10b 649 3KBZ pdb_description: 02-Feb-10 X-ray 2.450 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 6 649 3A29 pdb_description: 06-Oct-09 X-ray 2.600 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 649 2Y5L pdb_description: 18-May-11 X-ray 2.200 Orally active aminopyridines as inhibitors of tetrameric fru 1,6-bisphosphatase 649 2Y5K pdb_description: 18-May-11 X-ray 2.100 Orally active aminopyridines as inhibitors of tetrameric fru 1,6-bisphosphatase 649 2WBD pdb_description: 22-Dec-09 X-ray 2.400 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate-1- phosphohydrolase) (E.C.3.1.3.11) complexed with an amp site inhibitor 649 2WBB pdb_description: 22-Dec-09 X-ray 2.220 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate-1- phosphohydrolase) (E.C.3.1.3.11) complexed with an amp site inhibitor 649 2VT5 pdb_description: 22-Jul-08 X-ray 2.200 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate -1-phosphohydrolase) (E.C.3.1.3.11) complexed with a dual binding amp site inhibitor 649 2JJK pdb_description: 22-Jul-08 X-ray 2.000 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate -1-phosphohydrolase) (E.C.3.1.3.11) complexed with a dual binding amp site inhibitor 649 2FIX pdb_description: 21-Feb-06 X-ray 3.500 Structure of human liver fbpase complexed with potent benzoxazole allosteric inhibitiors 649 2FIE pdb_description: 21-Feb-06 X-ray 2.810 Structure of human liver fbpase complexed with potent benzoxazole allosteric inhibitors 649 2FHY pdb_description: 21-Feb-06 X-ray 2.950 Structure of human liver fpbase complexed with a novel benzoxazole as allosteric inhibitor 649 1FTA pdb_description: 14-Nov-95 X-ray 2.300 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate, 1- phosphohydrolase) (E.C.3.1.3.11) complexed with the alloste inhibitor amp 649 Zimmer Variants: 649 chr9:97369149:C:T 1017_653_218_R->K 649 HGMD Variants: 649 chr9:97365839:C:A 1017_841_281_E->* 649 chr9:97369117:G:A 1017_685_229_Q->* 649 chr9:97369154:G:C 1017_648_216_Y->* 649 chr9:97401505:C:A 1017_88_30_E->* 649 chr9:97365799:C:A 1017_881_294_G->V 649 chr9:97365799:C:T 1017_881_294_G->E 649 chr9:97365829:G:C 1017_851_284_P->R 649 chr9:97365839:C:T 1017_841_281_E->K 649 chr9:97367786:C:T 1017_778_260_G->R 649 chr9:97369163:G:C 1017_639_213_N->K 649 chr9:97369221:A:G 1017_581_194_F->S 649 chr9:97372240:G:T 1017_530_177_A->D 649 chr9:97372280:C:T 1017_490_164_G->S 649 oneKG Variants: 649 chr9:97367829:A:C 1017_735_245_Y->* 0.000199681 649 chr9:97365713:C:T 1017_967_323_D->N 0.000199681 649 chr9:97365773:C:G 1017_907_303_V->L 0.000399361 649 chr9:97365815:T:A 1017_865_289_M->L 0.00319489 649 chr9:97365839:C:T 1017_841_281_E->K 0.000199681 649 chr9:97367746:T:C 1017_818_273_N->S 0.000199681 649 chr9:97367754:C:G 1017_810_270_K->N 0.000199681 649 chr9:97367765:C:T 1017_799_267_A->T 0.000199681 649 chr9:97367800:C:A 1017_764_255_R->L 0.000199681 649 chr9:97367819:T:G 1017_745_249_M->L 0.000599042 649 chr9:97369098:G:C 1017_704_235_P->R 0.000199681 649 chr9:97369105:A:T 1017_697_233_F->I 0.0121805 649 chr9:97369132:C:T 1017_670_224_V->I 0.000399361 649 chr9:97369149:C:T 1017_653_218_R->K 0.023562 649 chr9:97369204:C:T 1017_598_200_D->N 0.000199681 649 chr9:97372232:A:G 1017_538_180_C->R 0.000199681 649 chr9:97372310:G:C 1017_460_154_L->V 0.000199681 649 chr9:97382669:G:A 1017_275_92_T->M 0.000199681 649 chr9:97382748:C:T 1017_196_66_V->M 0.000199681 649 chr9:97401546:C:A 1017_47_16_R->L 0.000199681 649 na12878 Variants: 649 chr9:97369149:C:T 1017_653_218_R->K 649 snyder Variants: 649 chr9:97369149:C:T 1017_653_218_R->K 650 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000165140_ENST00000415431 gene_Name: F16P1_HUMAN 650 list of pdbs: 650 3KC1 pdb_description: 02-Feb-10 X-ray 2.250 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 19a 650 3KC0 pdb_description: 02-Feb-10 X-ray 2.800 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 10b 650 3KBZ pdb_description: 02-Feb-10 X-ray 2.450 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 6 650 3A29 pdb_description: 06-Oct-09 X-ray 2.600 Crystal structure of human liver fbpase in complex with tricyclic inhibitor 650 2Y5L pdb_description: 18-May-11 X-ray 2.200 Orally active aminopyridines as inhibitors of tetrameric fru 1,6-bisphosphatase 650 2Y5K pdb_description: 18-May-11 X-ray 2.100 Orally active aminopyridines as inhibitors of tetrameric fru 1,6-bisphosphatase 650 2WBD pdb_description: 22-Dec-09 X-ray 2.400 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate-1- phosphohydrolase) (E.C.3.1.3.11) complexed with an amp site inhibitor 650 2WBB pdb_description: 22-Dec-09 X-ray 2.220 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate-1- phosphohydrolase) (E.C.3.1.3.11) complexed with an amp site inhibitor 650 2VT5 pdb_description: 22-Jul-08 X-ray 2.200 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate -1-phosphohydrolase) (E.C.3.1.3.11) complexed with a dual binding amp site inhibitor 650 2JJK pdb_description: 22-Jul-08 X-ray 2.000 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate -1-phosphohydrolase) (E.C.3.1.3.11) complexed with a dual binding amp site inhibitor 650 2FIX pdb_description: 21-Feb-06 X-ray 3.500 Structure of human liver fbpase complexed with potent benzoxazole allosteric inhibitiors 650 2FIE pdb_description: 21-Feb-06 X-ray 2.810 Structure of human liver fbpase complexed with potent benzoxazole allosteric inhibitors 650 2FHY pdb_description: 21-Feb-06 X-ray 2.950 Structure of human liver fpbase complexed with a novel benzoxazole as allosteric inhibitor 650 1FTA pdb_description: 14-Nov-95 X-ray 2.300 Fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate, 1- phosphohydrolase) (E.C.3.1.3.11) complexed with the alloste inhibitor amp 650 Zimmer Variants: 650 chr9:97369149:C:T 1017_653_218_R->K;HUB=PPI;GENE=FBP1;CDSS=2 650 HGMD Variants: 650 chr9:97365839:C:A 1017_841_281_E->* 650 chr9:97369117:G:A 1017_685_229_Q->* 650 chr9:97369154:G:C 1017_648_216_Y->* 650 chr9:97401505:C:A 1017_88_30_E->* 650 chr9:97365799:C:A 1017_881_294_G->V 650 chr9:97365799:C:T 1017_881_294_G->E 650 chr9:97365829:G:C 1017_851_284_P->R 650 chr9:97365839:C:T 1017_841_281_E->K 650 chr9:97367786:C:T 1017_778_260_G->R 650 chr9:97369163:G:C 1017_639_213_N->K 650 chr9:97369221:A:G 1017_581_194_F->S 650 chr9:97372240:G:T 1017_530_177_A->D 650 chr9:97372280:C:T 1017_490_164_G->S 650 oneKG Variants: 650 chr9:97367829:A:C 1017_735_245_Y->* 0.000199681 650 chr9:97365713:C:T 1017_967_323_D->N 0.000199681 650 chr9:97365773:C:G 1017_907_303_V->L 0.000399361 650 chr9:97365815:T:A 1017_865_289_M->L 0.00319489 650 chr9:97365839:C:T 1017_841_281_E->K 0.000199681 650 chr9:97367746:T:C 1017_818_273_N->S 0.000199681 650 chr9:97367754:C:G 1017_810_270_K->N 0.000199681 650 chr9:97367765:C:T 1017_799_267_A->T 0.000199681 650 chr9:97367800:C:A 1017_764_255_R->L 0.000199681 650 chr9:97367819:T:G 1017_745_249_M->L 0.000599042 650 chr9:97369098:G:C 1017_704_235_P->R 0.000199681 650 chr9:97369105:A:T 1017_697_233_F->I 0.0121805 650 chr9:97369132:C:T 1017_670_224_V->I 0.000399361 650 chr9:97369149:C:T 1017_653_218_R->K 0.023562 650 chr9:97369204:C:T 1017_598_200_D->N 0.000199681 650 chr9:97372232:A:G 1017_538_180_C->R 0.000199681 650 chr9:97372310:G:C 1017_460_154_L->V 0.000199681 650 chr9:97382669:G:A 1017_275_92_T->M 0.000199681 650 chr9:97382748:C:T 1017_196_66_V->M 0.000199681 650 chr9:97401546:C:A 1017_47_16_R->L 0.000199681 650 na12878 Variants: 650 chr9:97369149:C:T 1017_653_218_R->K 650 snyder Variants: 650 chr9:97369149:C:T 1017_653_218_R->K 651 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000163554_ENST00000368147 gene_Name: SPTA1_HUMAN 651 list of pdbs: 651 3LBX pdb_description: 09-Mar-10 X-ray 2.800 Crystal structure of the erythrocyte spectrin tetramerizatio complex 651 1OWA pdb_description: 30-Mar-04 NMR 10 Solution structural studies on human erythrocyte alpha spectrin n terminal tetramerization domain 651 Zimmer Variants: 651 chr1:158619728:A:C 7260_3487_1163_S->A;GENE=SPTA1;CDSS=1;DBRECUR=SPTA1 651 HGMD Variants: 651 chr1:158609377:G:A 7260_4975_1659_R->* 651 chr1:158627401:G:A 7260_2671_891_R->* 651 chr1:158592847:G:A 7260_6046_2016_R->C 651 chr1:158592901:C:G 7260_5992_1998_A->P 651 chr1:158607935:T:G 7260_5077_1693_K->Q 651 chr1:158624528:G:T 7260_2909_970_A->D 651 chr1:158632583:G:T 7260_2373_791_D->E 651 chr1:158641925:T:G 7260_1412_471_Q->P 651 chr1:158641931:T:G 7260_1406_469_H->P 651 chr1:158648222:A:G 7260_781_261_S->P 651 chr1:158648224:A:G 7260_779_260_L->P 651 chr1:158650431:A:G 7260_620_207_L->P 651 chr1:158651396:C:T 7260_452_151_G->D 651 chr1:158655017:G:A 7260_145_49_L->F 651 chr1:158655019:T:C 7260_143_48_K->R 651 chr1:158655025:C:A 7260_137_46_G->V 651 chr1:158655027:C:A 7260_135_45_R->S 651 chr1:158655028:C:G 7260_134_45_R->T 651 chr1:158655041:G:A 7260_121_41_R->W 651 chr1:158655062:G:A 7260_100_34_R->W 651 chr1:158655070:A:G 7260_92_31_V->A 651 chr1:158655079:C:A 7260_83_28_R->L 651 chr1:158655079:C:T 7260_83_28_R->H 651 chr1:158655080:G:T 7260_82_28_R->S 651 chr1:158655080:G:A 7260_82_28_R->C 651 chr1:158655091:A:G 7260_71_24_I->T 651 chr1:158655091:A:C 7260_71_24_I->S 651 oneKG Variants: 651 chr1:158581125:C:T 7260_7189_2397_D->N 0.000199681 651 chr1:158581131:A:G 7260_7183_2395_Y->H 0.000599042 651 chr1:158581138:C:T 7260_7176_2392_M->I 0.000199681 651 chr1:158581172:G:C 7260_7142_2381_T->S 0.000199681 651 chr1:158582632:T:C 7260_7109_2370_Y->C 0.000199681 651 chr1:158582637:C:A 7260_7104_2368_K->N 0.000199681 651 chr1:158582673:T:G 7260_7068_2356_E->D 0.000599042 651 chr1:158582681:T:C 7260_7060_2354_S->G 0.000199681 651 chr1:158583560:C:T 7260_6940_2314_E->K 0.000199681 651 chr1:158583650:C:T 7260_6850_2284_D->N 0.0071885 651 chr1:158583652:A:G 7260_6848_2283_F->S 0.000199681 651 chr1:158584091:A:G 7260_6794_2265_I->T 0.49381 651 chr1:158585042:C:T 7260_6752_2251_R->Q 0.000199681 651 chr1:158585067:C:T 7260_6727_2243_D->N 0.000199681 651 chr1:158585122:T:G 7260_6672_2224_E->D 0.0061901 651 chr1:158585159:T:G 7260_6635_2212_Q->P 0.000199681 651 chr1:158585172:C:A 7260_6622_2208_A->S 0.000199681 651 chr1:158585185:C:A 7260_6609_2203_Q->H 0.000199681 651 chr1:158587368:T:C 7260_6559_2187_K->E 0.00998403 651 chr1:158587833:C:G 7260_6544_2182_D->H 0.000199681 651 chr1:158587844:G:A 7260_6533_2178_A->V 0.00219649 651 chr1:158589105:T:C 7260_6437_2146_Q->R 0.00519169 651 chr1:158589111:T:C 7260_6431_2144_E->G 0.000599042 651 chr1:158589120:C:T 7260_6422_2141_R->Q 0.000199681 651 chr1:158589121:G:A 7260_6421_2141_R->W 0.00159744 651 chr1:158590018:G:C 7260_6359_2120_T->S 0.000399361 651 chr1:158590034:G:A 7260_6343_2115_P->S 0.000199681 651 chr1:158590060:T:A 7260_6317_2106_D->V 0.000199681 651 chr1:158590135:A:G 7260_6242_2081_L->P 0.000199681 651 chr1:158590142:G:A 7260_6235_2079_R->W 0.000399361 651 chr1:158590237:T:C 7260_6140_2047_E->G 0.000199681 651 chr1:158590241:C:T 7260_6136_2046_V->M 0.000199681 651 chr1:158592847:G:A 7260_6046_2016_R->C 0.0543131 651 chr1:158592859:C:T 7260_6034_2012_A->T 0.000199681 651 chr1:158592867:C:T 7260_6026_2009_R->H 0.000599042 651 chr1:158592901:C:G 7260_5992_1998_A->P 0.0539137 651 chr1:158592934:C:T 7260_5959_1987_E->K 0.000199681 651 chr1:158592964:G:C 7260_5929_1977_L->V 0.000199681 651 chr1:158592982:C:T 7260_5911_1971_D->N 0.00319489 651 chr1:158596676:G:C 7260_5786_1929_A->G 0.000998403 651 chr1:158597458:C:T 7260_5621_1874_R->Q 0.000399361 651 chr1:158597463:C:G 7260_5616_1872_E->D 0.000199681 651 chr1:158597491:G:T 7260_5588_1863_A->D 0.000199681 651 chr1:158597507:G:C 7260_5572_1858_L->V 0.227835 651 chr1:158604349:G:A 7260_5549_1850_T->I 0.000199681 651 chr1:158604390:A:T 7260_5508_1836_N->K 0.000199681 651 chr1:158604391:T:C 7260_5507_1836_N->S 0.0539137 651 chr1:158604400:G:A 7260_5498_1833_A->V 0.000599042 651 chr1:158605725:G:A 7260_5410_1804_L->F 0.00139776 651 chr1:158605731:C:T 7260_5404_1802_E->K 0.000199681 651 chr1:158605757:C:T 7260_5378_1793_R->Q 0.000399361 651 chr1:158605799:A:G 7260_5336_1779_L->P 0.000199681 651 chr1:158606463:C:T 7260_5278_1760_G->R 0.000199681 651 chr1:158606464:C:G 7260_5277_1759_E->D 0.000199681 651 chr1:158606520:A:G 7260_5221_1741_Y->H 0.000199681 651 chr1:158606537:C:T 7260_5204_1735_R->Q 0.000199681 651 chr1:158607919:A:G 7260_5093_1698_V->A 0.000199681 651 chr1:158607935:T:G 7260_5077_1693_K->Q 0.245607 651 chr1:158607971:C:T 7260_5041_1681_V->I 0.000199681 651 chr1:158609433:G:C 7260_4919_1640_A->G 0.00219649 651 chr1:158609673:A:T 7260_4862_1621_F->Y 0.000399361 651 chr1:158609685:C:T 7260_4850_1617_R->Q 0.000399361 651 chr1:158612205:A:T 7260_4733_1578_M->K 0.000399361 651 chr1:158612208:G:C 7260_4730_1577_A->G 0.000199681 651 chr1:158612209:C:T 7260_4729_1577_A->T 0.000199681 651 chr1:158612226:C:T 7260_4712_1571_C->Y 0.000199681 651 chr1:158612227:A:C 7260_4711_1571_C->G 0.000798722 651 chr1:158612236:A:G 7260_4702_1568_C->R 0.40595 651 chr1:158612244:A:T 7260_4694_1565_L->Q 0.000599042 651 chr1:158612248:A:T 7260_4690_1564_S->T 0.000399361 651 chr1:158612266:C:T 7260_4672_1558_V->I 0.000399361 651 chr1:158612292:T:C 7260_4646_1549_D->G 0.000199681 651 chr1:158612618:C:G 7260_4591_1531_A->P 0.000599042 651 chr1:158612626:T:C 7260_4583_1528_Y->C 0.000199681 651 chr1:158612645:T:C 7260_4564_1522_T->A 0.000399361 651 chr1:158612719:C:T 7260_4490_1497_G->E 0.00638978 651 chr1:158612732:G:A 7260_4477_1493_R->W 0.00499201 651 chr1:158612738:C:T 7260_4471_1491_D->N 0.000199681 651 chr1:158612756:G:A 7260_4453_1485_L->F 0.0135783 651 chr1:158613136:G:A 7260_4418_1473_T->M 0.000599042 651 chr1:158614075:G:A 7260_4306_1436_R->W 0.000199681 651 chr1:158614149:A:C 7260_4232_1411_M->R 0.000199681 651 chr1:158615075:A:G 7260_4097_1366_I->T 0.000199681 651 chr1:158615136:G:T 7260_4036_1346_Q->K 0.000199681 651 chr1:158615288:A:C 7260_3993_1331_H->Q 0.000199681 651 chr1:158615292:C:A 7260_3989_1330_R->I 0.0117812 651 chr1:158615341:A:G 7260_3940_1314_S->P 0.000599042 651 chr1:158615349:A:G 7260_3932_1311_M->T 0.000199681 651 chr1:158617396:G:A 7260_3829_1277_R->C 0.00159744 651 chr1:158617417:C:A 7260_3808_1270_A->S 0.000199681 651 chr1:158617449:T:C 7260_3776_1259_D->G 0.000399361 651 chr1:158617482:C:T 7260_3743_1248_R->Q 0.000199681 651 chr1:158617483:G:A 7260_3742_1248_R->W 0.000599042 651 chr1:158618343:G:A 7260_3670_1224_R->W 0.000399361 651 chr1:158618345:C:T 7260_3668_1223_R->Q 0.000199681 651 chr1:158618371:A:T 7260_3642_1214_D->E 0.000199681 651 chr1:158618391:C:T 7260_3622_1208_A->T 0.000199681 651 chr1:158618405:C:T 7260_3608_1203_C->Y 0.000199681 651 chr1:158619724:C:T 7260_3491_1164_R->H 0.000399361 651 chr1:158619728:A:C 7260_3487_1163_S->A 0.005391 651 chr1:158621162:G:A 7260_3472_1158_R->W 0.000399361 651 chr1:158621189:G:A 7260_3445_1149_L->F 0.000199681 651 chr1:158621225:T:C 7260_3409_1137_I->V 0.000199681 651 chr1:158621236:C:G 7260_3398_1133_R->P 0.00519169 651 chr1:158621245:T:C 7260_3389_1130_N->S 0.000199681 651 chr1:158621258:C:T 7260_3376_1126_D->N 0.000199681 651 chr1:158622275:C:G 7260_3357_1119_K->N 0.000199681 651 chr1:158622298:C:A 7260_3334_1112_D->Y 0.000199681 651 chr1:158622318:T:G 7260_3314_1105_N->T 0.000199681 651 chr1:158622332:C:A 7260_3300_1100_E->D 0.000199681 651 chr1:158622402:C:T 7260_3230_1077_R->H 0.00239617 651 chr1:158622403:G:A 7260_3229_1077_R->C 0.000199681 651 chr1:158622411:C:T 7260_3221_1074_R->H 0.000199681 651 chr1:158622412:G:A 7260_3220_1074_R->C 0.000199681 651 chr1:158622442:A:G 7260_3190_1064_Y->H 0.000199681 651 chr1:158623085:C:A 7260_3167_1056_R->L 0.000599042 651 chr1:158623092:T:A 7260_3160_1054_T->S 0.00499201 651 chr1:158623103:G:A 7260_3149_1050_P->L 0.00798722 651 chr1:158623118:C:T 7260_3134_1045_R->Q 0.000199681 651 chr1:158623148:G:A 7260_3104_1035_A->V 0.000199681 651 chr1:158623190:T:A 7260_3062_1021_D->V 0.00119808 651 chr1:158624414:C:T 7260_3023_1008_S->N 0.000199681 651 chr1:158624418:G:A 7260_3019_1007_L->F 0.000399361 651 chr1:158624466:G:A 7260_2971_991_R->C 0.000399361 651 chr1:158624499:G:T 7260_2938_980_Q->K 0.000199681 651 chr1:158624523:G:C 7260_2914_972_P->A 0.000199681 651 chr1:158624528:G:T 7260_2909_970_A->D 0.0141773 651 chr1:158626377:G:A 7260_2875_959_R->W 0.000399361 651 chr1:158626382:G:A 7260_2870_957_A->V 0.0345447 651 chr1:158627377:C:A 7260_2695_899_V->F 0.000199681 651 chr1:158627392:C:A 7260_2680_894_D->Y 0.000199681 651 chr1:158627407:C:A 7260_2665_889_A->S 0.000199681 651 chr1:158627419:G:A 7260_2653_885_R->C 0.000399361 651 chr1:158627464:C:T 7260_2608_870_V->M 0.000399361 651 chr1:158627472:G:T 7260_2600_867_A->E 0.000798722 651 chr1:158631083:C:G 7260_2581_861_E->Q 0.000199681 651 chr1:158631106:G:C 7260_2558_853_T->R 0.10603 651 chr1:158631121:C:T 7260_2543_848_R->H 0.000199681 651 chr1:158631144:C:G 7260_2520_840_E->D 0.0117812 651 chr1:158632507:T:C 7260_2449_817_T->A 0.000399361 651 chr1:158632531:T:C 7260_2425_809_I->V 0.103035 651 chr1:158632552:T:C 7260_2404_802_T->A 0.000199681 651 chr1:158632583:G:T 7260_2373_791_D->E 0.0133786 651 chr1:158632656:C:T 7260_2300_767_R->K 0.000199681 651 chr1:158632660:C:T 7260_2296_766_A->T 0.00239617 651 chr1:158632689:A:G 7260_2267_756_I->T 0.000399361 651 chr1:158632720:G:A 7260_2236_746_L->F 0.000199681 651 chr1:158636110:C:T 7260_2216_739_R->H 0.000599042 651 chr1:158636144:T:C 7260_2182_728_K->E 0.000399361 651 chr1:158636150:G:C 7260_2176_726_L->V 0.000199681 651 chr1:158636165:C:T 7260_2161_721_E->K 0.000399361 651 chr1:158636224:C:T 7260_2102_701_R->H 0.0866613 651 chr1:158636225:G:A 7260_2101_701_R->C 0.000199681 651 chr1:158636253:T:G 7260_2073_691_Q->H 0.000199681 651 chr1:158637666:C:G 7260_2020_674_E->Q 0.000399361 651 chr1:158637704:C:T 7260_1982_661_R->H 0.00139776 651 chr1:158637728:T:C 7260_1958_653_Y->C 0.00539137 651 chr1:158637738:C:T 7260_1948_650_G->S 0.000199681 651 chr1:158639212:C:G 7260_1819_607_D->H 0.000199681 651 chr1:158639214:T:C 7260_1817_606_D->G 0.00239617 651 chr1:158639242:A:G 7260_1789_597_W->R 0.000199681 651 chr1:158639300:C:A 7260_1731_577_L->F 0.00419329 651 chr1:158639328:C:T 7260_1703_568_R->H 0.000399361 651 chr1:158639329:G:A 7260_1702_568_R->C 0.000199681 651 chr1:158639343:C:T 7260_1688_563_R->Q 0.00119808 651 chr1:158639504:C:T 7260_1672_558_D->N 0.000199681 651 chr1:158639524:T:C 7260_1652_551_E->G 0.000199681 651 chr1:158641161:G:A 7260_1571_524_A->V 0.000199681 651 chr1:158641180:G:A 7260_1552_518_H->Y 0.000199681 651 chr1:158641242:G:T 7260_1490_497_A->D 0.000399361 651 chr1:158641920:C:G 7260_1417_473_E->Q 0.000199681 651 chr1:158641928:C:G 7260_1409_470_R->P 0.000199681 651 chr1:158641935:G:A 7260_1402_468_R->C 0.000199681 651 chr1:158644160:C:T 7260_1309_437_V->M 0.000199681 651 chr1:158644175:T:C 7260_1294_432_T->A 0.000199681 651 chr1:158644397:T:C 7260_1181_394_N->S 0.00239617 651 chr1:158645955:T:C 7260_1088_363_Y->C 0.000399361 651 chr1:158645965:T:A 7260_1078_360_T->S 0.00559105 651 chr1:158645974:C:A 7260_1069_357_A->S 0.000199681 651 chr1:158646065:T:G 7260_978_326_K->N 0.000199681 651 chr1:158647526:T:G 7260_911_304_H->P 0.00219649 651 chr1:158647584:G:T 7260_853_285_P->T 0.00259585 651 chr1:158648210:T:C 7260_793_265_N->D 0.000798722 651 chr1:158648222:A:G 7260_781_261_S->P 0.000199681 651 chr1:158648228:C:T 7260_775_259_A->T 0.000599042 651 chr1:158648255:G:A 7260_748_250_R->C 0.00259585 651 chr1:158648260:C:T 7260_743_248_R->H 0.000199681 651 chr1:158648324:C:T 7260_679_227_E->K 0.000798722 651 chr1:158650375:C:T 7260_676_226_E->K 0.000199681 651 chr1:158650431:A:G 7260_620_207_L->P 0.000599042 651 chr1:158650476:C:T 7260_575_192_R->H 0.000199681 651 chr1:158651394:C:T 7260_454_152_D->N 0.0351438 651 chr1:158651427:C:A 7260_421_141_D->Y 0.0 651 chr1:158651447:T:C 7260_401_134_E->G 0.000599042 651 chr1:158651453:T:C 7260_395_132_H->R 0.000199681 651 chr1:158653225:G:A 7260_326_109_S->F 0.000798722 651 chr1:158653232:G:A 7260_319_107_L->F 0.000199681 651 chr1:158654923:C:T 7260_239_80_S->N 0.000199681 651 chr1:158654938:A:G 7260_224_75_I->T 0.000599042 651 chr1:158654956:A:G 7260_206_69_I->T 0.000199681 651 chr1:158654970:A:T 7260_192_64_D->E 0.000599042 651 chr1:158654979:A:C 7260_183_61_D->E 0.000199681 651 chr1:158655048:G:C 7260_114_38_F->L 0.000199681 651 chr1:158655061:C:T 7260_101_34_R->Q 0.000199681 651 chr1:158655079:C:T 7260_83_28_R->H 0.000399361 651 chr1:158655115:T:A 7260_47_16_K->M 0.000199681 651 chr1:158655128:T:C 7260_34_12_S->G 0.000199681 651 chr1:158655129:C:G 7260_33_11_E->D 0.00139776 651 chr1:158655137:C:A 7260_25_9_V->F 0.000199681 651 na12878 Variants: 651 chr1:158619728:A:C 7260_3487_1163_S->A 651 snyder Variants: 651 chr1:158597507:G:C 7260_5572_1858_L->V 651 chr1:158607935:T:G 7260_5077_1693_K->Q 651 chr1:158612236:A:G 7260_4702_1568_C->R 651 chr1:158612719:C:T 7260_4490_1497_G->E 651 chr1:158619728:A:C 7260_3487_1163_S->A 652 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198216_ENST00000367570 gene_Name: CAC1E_HUMAN 652 list of pdbs: 652 3BXL pdb_description: 25-Mar-08 X-ray 2.300 Crystal structure of the r-type calcium channel (cav2.3) iq domain and ca2+calmodulin complex 652 Zimmer Variants: 652 chr1:181759657:G:A 6813_5863_1955_A->T 652 HGMD Variants: 652 chr1:181708295:G:A 6813_3625_1209_G->S 652 oneKG Variants: 652 chr1:181725101:T:A 6813_3999_1333_Y->* 0.000199681 652 chr1:181453090:C:G 6813_210_70_F->L 0.000199681 652 chr1:181680167:G:A 6813_1133_378_R->H 0.000199681 652 chr1:181685224:G:A 6813_1274_425_R->Q 0.000199681 652 chr1:181686261:G:T 6813_1348_450_A->S 0.000399361 652 chr1:181687224:T:A 6813_1559_520_L->H 0.000199681 652 chr1:181687234:G:A 6813_1569_523_M->I 0.000599042 652 chr1:181695261:G:T 6813_2203_735_V->F 0.000199681 652 chr1:181700330:C:T 6813_2260_754_H->Y 0.000399361 652 chr1:181701627:C:T 6813_2405_802_A->V 0.000199681 652 chr1:181701630:C:T 6813_2408_803_P->L 0.000199681 652 chr1:181701648:A:G 6813_2426_809_N->S 0.000199681 652 chr1:181701744:C:G 6813_2522_841_A->G 0.000199681 652 chr1:181701768:G:A 6813_2546_849_R->H 0.000199681 652 chr1:181701777:G:A 6813_2555_852_R->H 0.000399361 652 chr1:181701779:G:A 6813_2557_853_G->R 0.000599042 652 chr1:181701797:G:T 6813_2575_859_D->Y 0.000199681 652 chr1:181701799:T:A 6813_2577_859_D->E 0.14996 652 chr1:181701810:G:A 6813_2588_863_R->Q 0.00299521 652 chr1:181701858:G:A 6813_2636_879_R->Q 0.000199681 652 chr1:181701903:C:T 6813_2681_894_P->L 0.000399361 652 chr1:181701953:C:T 6813_2731_911_R->W 0.000199681 652 chr1:181701978:G:A 6813_2756_919_R->Q 0.000199681 652 chr1:181701981:G:A 6813_2759_920_R->H 0.000199681 652 chr1:181701987:G:T 6813_2765_922_R->L 0.000199681 652 chr1:181701989:C:T 6813_2767_923_H->Y 0.00139776 652 chr1:181701998:G:A 6813_2776_926_V->I 0.000798722 652 chr1:181702034:C:T 6813_2812_938_R->W 0.000399361 652 chr1:181702604:G:A 6813_2980_994_G->R 0.000199681 652 chr1:181702611:C:T 6813_2987_996_A->V 0.000199681 652 chr1:181702616:G:A 6813_2992_998_G->S 0.0161741 652 chr1:181702677:A:G 6813_3053_1018_H->R 0.000199681 652 chr1:181702679:G:A 6813_3055_1019_V->M 0.000199681 652 chr1:181702689:C:T 6813_3065_1022_T->M 0.00499201 652 chr1:181702736:G:A 6813_3112_1038_V->M 0.000199681 652 chr1:181702748:A:G 6813_3124_1042_M->V 0.000199681 652 chr1:181702807:C:G 6813_3183_1061_D->E 0.000998403 652 chr1:181702836:C:T 6813_3212_1071_T->I 0.000199681 652 chr1:181702838:G:A 6813_3214_1072_V->I 0.000199681 652 chr1:181702853:G:A 6813_3229_1077_V->M 0.000199681 652 chr1:181702865:G:A 6813_3241_1081_V->M 0.000199681 652 chr1:181705509:C:T 6813_3361_1121_R->C 0.000199681 652 chr1:181706686:G:A 6813_3448_1150_V->M 0.000199681 652 chr1:181708361:G:A 6813_3691_1231_V->I 0.000399361 652 chr1:181719621:G:C 6813_3729_1243_L->F 0.000199681 652 chr1:181725204:G:A 6813_4102_1368_V->I 0.000199681 652 chr1:181727913:C:G 6813_4514_1505_T->S 0.000199681 652 chr1:181727954:A:G 6813_4555_1519_M->V 0.000399361 652 chr1:181727964:C:T 6813_4565_1522_S->F 0.000199681 652 chr1:181741278:G:A 6813_5050_1684_A->T 0.000199681 652 chr1:181741279:C:T 6813_5051_1684_A->V 0.000199681 652 chr1:181741296:G:A 6813_5068_1690_E->K 0.000199681 652 chr1:181745336:G:A 6813_5239_1747_V->I 0.000199681 652 chr1:181754522:G:A 6813_5647_1883_V->M 0.000399361 652 chr1:181754532:A:G 6813_5657_1886_Q->R 0.000399361 652 chr1:181754859:C:G 6813_5690_1897_P->R 0.000199681 652 chr1:181754879:C:A 6813_5710_1904_P->T 0.000599042 652 chr1:181754880:C:T 6813_5711_1904_P->L 0.000599042 652 chr1:181759621:C:T 6813_5827_1943_P->S 0.000199681 652 chr1:181759630:A:T 6813_5836_1946_I->L 0.000599042 652 chr1:181759657:G:A 6813_5863_1955_A->T 0.276358 652 chr1:181759666:G:A 6813_5872_1958_G->R 0.000199681 652 chr1:181759682:G:A 6813_5888_1963_R->Q 0.000599042 652 chr1:181764045:C:T 6813_5944_1982_R->W 0.000199681 652 chr1:181764127:G:A 6813_6026_2009_R->Q 0.000199681 652 chr1:181764151:T:G 6813_6050_2017_L->R 0.000199681 652 chr1:181765824:C:T 6813_6100_2034_R->C 0.000199681 652 chr1:181765920:G:C 6813_6196_2066_A->P 0.000199681 652 chr1:181765924:A:T 6813_6200_2067_D->V 0.000199681 652 chr1:181765942:G:A 6813_6218_2073_R->H 0.00279553 652 chr1:181765945:G:A 6813_6221_2074_R->H 0.000798722 652 chr1:181765954:G:A 6813_6230_2077_R->K 0.000199681 652 chr1:181767462:C:T 6813_6305_2102_S->F 0.000199681 652 chr1:181767494:C:A 6813_6337_2113_R->S 0.000199681 652 chr1:181767498:G:A 6813_6341_2114_R->Q 0.000199681 652 chr1:181767512:G:A 6813_6355_2119_V->I 0.000599042 652 chr1:181767543:A:G 6813_6386_2129_Y->C 0.00399361 652 chr1:181767566:G:A 6813_6409_2137_G->S 0.000199681 652 chr1:181767581:C:T 6813_6424_2142_P->S 0.000199681 652 chr1:181767620:C:A 6813_6463_2155_Q->K 0.000199681 652 chr1:181767653:G:A 6813_6496_2166_E->K 0.000199681 652 chr1:181767725:T:A 6813_6568_2190_L->M 0.000199681 652 chr1:181767749:G:A 6813_6592_2198_A->T 0.000399361 652 chr1:181767794:G:A 6813_6637_2213_V->M 0.000199681 652 chr1:181767860:A:G 6813_6703_2235_M->V 0.000199681 652 chr1:181767916:G:A 6813_6759_2253_M->I 0.000399361 652 chr1:181767948:C:T 6813_6791_2264_T->M 0.000199681 652 na12878 Variants: 652 chr1:181759657:G:A 6813_5863_1955_A->T 652 snyder Variants: 652 chr1:181759657:G:A 6813_5863_1955_A->T 653 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198216_ENST00000526775 gene_Name: CAC1E_HUMAN 653 list of pdbs: 653 3BXL pdb_description: 25-Mar-08 X-ray 2.300 Crystal structure of the r-type calcium channel (cav2.3) iq domain and ca2+calmodulin complex 653 Zimmer Variants: 653 chr1:181759657:G:A 6756_5806_1936_A->T 653 HGMD Variants: 653 chr1:181708295:G:A 6756_3568_1190_G->S 653 oneKG Variants: 653 chr1:181725101:T:A 6756_3942_1314_Y->* 0.000199681 653 chr1:181453090:C:G 6756_210_70_F->L 0.000199681 653 chr1:181680167:G:A 6756_1133_378_R->H 0.000199681 653 chr1:181685224:G:A 6756_1274_425_R->Q 0.000199681 653 chr1:181686261:G:T 6756_1348_450_A->S 0.000399361 653 chr1:181687224:T:A 6756_1559_520_L->H 0.000199681 653 chr1:181687234:G:A 6756_1569_523_M->I 0.000599042 653 chr1:181695261:G:T 6756_2203_735_V->F 0.000199681 653 chr1:181701627:C:T 6756_2348_783_A->V 0.000199681 653 chr1:181701630:C:T 6756_2351_784_P->L 0.000199681 653 chr1:181701648:A:G 6756_2369_790_N->S 0.000199681 653 chr1:181701744:C:G 6756_2465_822_A->G 0.000199681 653 chr1:181701768:G:A 6756_2489_830_R->H 0.000199681 653 chr1:181701777:G:A 6756_2498_833_R->H 0.000399361 653 chr1:181701779:G:A 6756_2500_834_G->R 0.000599042 653 chr1:181701797:G:T 6756_2518_840_D->Y 0.000199681 653 chr1:181701799:T:A 6756_2520_840_D->E 0.14996 653 chr1:181701810:G:A 6756_2531_844_R->Q 0.00299521 653 chr1:181701858:G:A 6756_2579_860_R->Q 0.000199681 653 chr1:181701903:C:T 6756_2624_875_P->L 0.000399361 653 chr1:181701953:C:T 6756_2674_892_R->W 0.000199681 653 chr1:181701978:G:A 6756_2699_900_R->Q 0.000199681 653 chr1:181701981:G:A 6756_2702_901_R->H 0.000199681 653 chr1:181701987:G:T 6756_2708_903_R->L 0.000199681 653 chr1:181701989:C:T 6756_2710_904_H->Y 0.00139776 653 chr1:181701998:G:A 6756_2719_907_V->I 0.000798722 653 chr1:181702034:C:T 6756_2755_919_R->W 0.000399361 653 chr1:181702604:G:A 6756_2923_975_G->R 0.000199681 653 chr1:181702611:C:T 6756_2930_977_A->V 0.000199681 653 chr1:181702616:G:A 6756_2935_979_G->S 0.0161741 653 chr1:181702677:A:G 6756_2996_999_H->R 0.000199681 653 chr1:181702679:G:A 6756_2998_1000_V->M 0.000199681 653 chr1:181702689:C:T 6756_3008_1003_T->M 0.00499201 653 chr1:181702736:G:A 6756_3055_1019_V->M 0.000199681 653 chr1:181702748:A:G 6756_3067_1023_M->V 0.000199681 653 chr1:181702807:C:G 6756_3126_1042_D->E 0.000998403 653 chr1:181702836:C:T 6756_3155_1052_T->I 0.000199681 653 chr1:181702838:G:A 6756_3157_1053_V->I 0.000199681 653 chr1:181702853:G:A 6756_3172_1058_V->M 0.000199681 653 chr1:181702865:G:A 6756_3184_1062_V->M 0.000199681 653 chr1:181705509:C:T 6756_3304_1102_R->C 0.000199681 653 chr1:181706686:G:A 6756_3391_1131_V->M 0.000199681 653 chr1:181708361:G:A 6756_3634_1212_V->I 0.000399361 653 chr1:181719621:G:C 6756_3672_1224_L->F 0.000199681 653 chr1:181725204:G:A 6756_4045_1349_V->I 0.000199681 653 chr1:181727913:C:G 6756_4457_1486_T->S 0.000199681 653 chr1:181727954:A:G 6756_4498_1500_M->V 0.000399361 653 chr1:181727964:C:T 6756_4508_1503_S->F 0.000199681 653 chr1:181741278:G:A 6756_4993_1665_A->T 0.000199681 653 chr1:181741279:C:T 6756_4994_1665_A->V 0.000199681 653 chr1:181741296:G:A 6756_5011_1671_E->K 0.000199681 653 chr1:181745336:G:A 6756_5182_1728_V->I 0.000199681 653 chr1:181754522:G:A 6756_5590_1864_V->M 0.000399361 653 chr1:181754532:A:G 6756_5600_1867_Q->R 0.000399361 653 chr1:181754859:C:G 6756_5633_1878_P->R 0.000199681 653 chr1:181754879:C:A 6756_5653_1885_P->T 0.000599042 653 chr1:181754880:C:T 6756_5654_1885_P->L 0.000599042 653 chr1:181759621:C:T 6756_5770_1924_P->S 0.000199681 653 chr1:181759630:A:T 6756_5779_1927_I->L 0.000599042 653 chr1:181759657:G:A 6756_5806_1936_A->T 0.276358 653 chr1:181759666:G:A 6756_5815_1939_G->R 0.000199681 653 chr1:181759682:G:A 6756_5831_1944_R->Q 0.000599042 653 chr1:181764045:C:T 6756_5887_1963_R->W 0.000199681 653 chr1:181764127:G:A 6756_5969_1990_R->Q 0.000199681 653 chr1:181764151:T:G 6756_5993_1998_L->R 0.000199681 653 chr1:181765824:C:T 6756_6043_2015_R->C 0.000199681 653 chr1:181765920:G:C 6756_6139_2047_A->P 0.000199681 653 chr1:181765924:A:T 6756_6143_2048_D->V 0.000199681 653 chr1:181765942:G:A 6756_6161_2054_R->H 0.00279553 653 chr1:181765945:G:A 6756_6164_2055_R->H 0.000798722 653 chr1:181765954:G:A 6756_6173_2058_R->K 0.000199681 653 chr1:181767462:C:T 6756_6248_2083_S->F 0.000199681 653 chr1:181767494:C:A 6756_6280_2094_R->S 0.000199681 653 chr1:181767498:G:A 6756_6284_2095_R->Q 0.000199681 653 chr1:181767512:G:A 6756_6298_2100_V->I 0.000599042 653 chr1:181767543:A:G 6756_6329_2110_Y->C 0.00399361 653 chr1:181767566:G:A 6756_6352_2118_G->S 0.000199681 653 chr1:181767581:C:T 6756_6367_2123_P->S 0.000199681 653 chr1:181767620:C:A 6756_6406_2136_Q->K 0.000199681 653 chr1:181767653:G:A 6756_6439_2147_E->K 0.000199681 653 chr1:181767725:T:A 6756_6511_2171_L->M 0.000199681 653 chr1:181767749:G:A 6756_6535_2179_A->T 0.000399361 653 chr1:181767794:G:A 6756_6580_2194_V->M 0.000199681 653 chr1:181767860:A:G 6756_6646_2216_M->V 0.000199681 653 chr1:181767916:G:A 6756_6702_2234_M->I 0.000399361 653 chr1:181767948:C:T 6756_6734_2245_T->M 0.000199681 653 na12878 Variants: 653 chr1:181759657:G:A 6756_5806_1936_A->T 653 snyder Variants: 653 chr1:181759657:G:A 6756_5806_1936_A->T 654 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000198216_ENST00000367573 gene_Name: CAC1E_HUMAN 654 list of pdbs: 654 3BXL pdb_description: 25-Mar-08 X-ray 2.300 Crystal structure of the r-type calcium channel (cav2.3) iq domain and ca2+calmodulin complex 654 Zimmer Variants: 654 chr1:181759657:G:A 6942_5863_1955_A->T 654 HGMD Variants: 654 chr1:181708295:G:A 6942_3625_1209_G->S 654 oneKG Variants: 654 chr1:181725101:T:A 6942_3999_1333_Y->* 0.000199681 654 chr1:181453090:C:G 6942_210_70_F->L 0.000199681 654 chr1:181680167:G:A 6942_1133_378_R->H 0.000199681 654 chr1:181685224:G:A 6942_1274_425_R->Q 0.000199681 654 chr1:181686261:G:T 6942_1348_450_A->S 0.000399361 654 chr1:181687224:T:A 6942_1559_520_L->H 0.000199681 654 chr1:181687234:G:A 6942_1569_523_M->I 0.000599042 654 chr1:181695261:G:T 6942_2203_735_V->F 0.000199681 654 chr1:181700330:C:T 6942_2260_754_H->Y 0.000399361 654 chr1:181701627:C:T 6942_2405_802_A->V 0.000199681 654 chr1:181701630:C:T 6942_2408_803_P->L 0.000199681 654 chr1:181701648:A:G 6942_2426_809_N->S 0.000199681 654 chr1:181701744:C:G 6942_2522_841_A->G 0.000199681 654 chr1:181701768:G:A 6942_2546_849_R->H 0.000199681 654 chr1:181701777:G:A 6942_2555_852_R->H 0.000399361 654 chr1:181701779:G:A 6942_2557_853_G->R 0.000599042 654 chr1:181701797:G:T 6942_2575_859_D->Y 0.000199681 654 chr1:181701799:T:A 6942_2577_859_D->E 0.14996 654 chr1:181701810:G:A 6942_2588_863_R->Q 0.00299521 654 chr1:181701858:G:A 6942_2636_879_R->Q 0.000199681 654 chr1:181701903:C:T 6942_2681_894_P->L 0.000399361 654 chr1:181701953:C:T 6942_2731_911_R->W 0.000199681 654 chr1:181701978:G:A 6942_2756_919_R->Q 0.000199681 654 chr1:181701981:G:A 6942_2759_920_R->H 0.000199681 654 chr1:181701987:G:T 6942_2765_922_R->L 0.000199681 654 chr1:181701989:C:T 6942_2767_923_H->Y 0.00139776 654 chr1:181701998:G:A 6942_2776_926_V->I 0.000798722 654 chr1:181702034:C:T 6942_2812_938_R->W 0.000399361 654 chr1:181702604:G:A 6942_2980_994_G->R 0.000199681 654 chr1:181702611:C:T 6942_2987_996_A->V 0.000199681 654 chr1:181702616:G:A 6942_2992_998_G->S 0.0161741 654 chr1:181702677:A:G 6942_3053_1018_H->R 0.000199681 654 chr1:181702679:G:A 6942_3055_1019_V->M 0.000199681 654 chr1:181702689:C:T 6942_3065_1022_T->M 0.00499201 654 chr1:181702736:G:A 6942_3112_1038_V->M 0.000199681 654 chr1:181702748:A:G 6942_3124_1042_M->V 0.000199681 654 chr1:181702807:C:G 6942_3183_1061_D->E 0.000998403 654 chr1:181702836:C:T 6942_3212_1071_T->I 0.000199681 654 chr1:181702838:G:A 6942_3214_1072_V->I 0.000199681 654 chr1:181702853:G:A 6942_3229_1077_V->M 0.000199681 654 chr1:181702865:G:A 6942_3241_1081_V->M 0.000199681 654 chr1:181705509:C:T 6942_3361_1121_R->C 0.000199681 654 chr1:181706686:G:A 6942_3448_1150_V->M 0.000199681 654 chr1:181708361:G:A 6942_3691_1231_V->I 0.000399361 654 chr1:181719621:G:C 6942_3729_1243_L->F 0.000199681 654 chr1:181725204:G:A 6942_4102_1368_V->I 0.000199681 654 chr1:181727913:C:G 6942_4514_1505_T->S 0.000199681 654 chr1:181727954:A:G 6942_4555_1519_M->V 0.000399361 654 chr1:181727964:C:T 6942_4565_1522_S->F 0.000199681 654 chr1:181741278:G:A 6942_5050_1684_A->T 0.000199681 654 chr1:181741279:C:T 6942_5051_1684_A->V 0.000199681 654 chr1:181741296:G:A 6942_5068_1690_E->K 0.000199681 654 chr1:181745336:G:A 6942_5239_1747_V->I 0.000199681 654 chr1:181754522:G:A 6942_5647_1883_V->M 0.000399361 654 chr1:181754532:A:G 6942_5657_1886_Q->R 0.000399361 654 chr1:181754859:C:G 6942_5690_1897_P->R 0.000199681 654 chr1:181754879:C:A 6942_5710_1904_P->T 0.000599042 654 chr1:181754880:C:T 6942_5711_1904_P->L 0.000599042 654 chr1:181759621:C:T 6942_5827_1943_P->S 0.000199681 654 chr1:181759630:A:T 6942_5836_1946_I->L 0.000599042 654 chr1:181759657:G:A 6942_5863_1955_A->T 0.276358 654 chr1:181759666:G:A 6942_5872_1958_G->R 0.000199681 654 chr1:181759682:G:A 6942_5888_1963_R->Q 0.000599042 654 chr1:181762810:G:A 6942_5908_1970_V->I 0.000399361 654 chr1:181762873:G:C 6942_5971_1991_E->Q 0.000199681 654 chr1:181762892:G:T 6942_5990_1997_R->M 0.000199681 654 chr1:181762909:C:T 6942_6007_2003_R->C 0.000199681 654 chr1:181762910:G:A 6942_6008_2003_R->H 0.00479233 654 chr1:181764045:C:T 6942_6073_2025_R->W 0.000199681 654 chr1:181764127:G:A 6942_6155_2052_R->Q 0.000199681 654 chr1:181764151:T:G 6942_6179_2060_L->R 0.000199681 654 chr1:181765824:C:T 6942_6229_2077_R->C 0.000199681 654 chr1:181765920:G:C 6942_6325_2109_A->P 0.000199681 654 chr1:181765924:A:T 6942_6329_2110_D->V 0.000199681 654 chr1:181765942:G:A 6942_6347_2116_R->H 0.00279553 654 chr1:181765945:G:A 6942_6350_2117_R->H 0.000798722 654 chr1:181765954:G:A 6942_6359_2120_R->K 0.000199681 654 chr1:181767462:C:T 6942_6434_2145_S->F 0.000199681 654 chr1:181767494:C:A 6942_6466_2156_R->S 0.000199681 654 chr1:181767498:G:A 6942_6470_2157_R->Q 0.000199681 654 chr1:181767512:G:A 6942_6484_2162_V->I 0.000599042 654 chr1:181767543:A:G 6942_6515_2172_Y->C 0.00399361 654 chr1:181767566:G:A 6942_6538_2180_G->S 0.000199681 654 chr1:181767581:C:T 6942_6553_2185_P->S 0.000199681 654 chr1:181767620:C:A 6942_6592_2198_Q->K 0.000199681 654 chr1:181767653:G:A 6942_6625_2209_E->K 0.000199681 654 chr1:181767725:T:A 6942_6697_2233_L->M 0.000199681 654 chr1:181767749:G:A 6942_6721_2241_A->T 0.000399361 654 chr1:181767794:G:A 6942_6766_2256_V->M 0.000199681 654 chr1:181767860:A:G 6942_6832_2278_M->V 0.000199681 654 chr1:181767916:G:A 6942_6888_2296_M->I 0.000399361 654 chr1:181767948:C:T 6942_6920_2307_T->M 0.000199681 654 na12878 Variants: 654 chr1:181759657:G:A 6942_5863_1955_A->T 654 snyder Variants: 654 chr1:181759657:G:A 6942_5863_1955_A->T 655 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000162601_ENST00000472487 gene_Name: MYSM1_HUMAN 655 list of pdbs: 655 2DCE pdb_description: 06-Jul-06 NMR 20 Solution structure of the swirm domain of human kiaa1915 protein 655 2CU7 pdb_description: 25-Nov-05 NMR 20 Solution structure of the sant domain of human kiaa1915 protein 655 Zimmer Variants: 655 chr1:59147926:T:C 2487_790_264_T->A;GENE=MYSM1;CDSS=1 655 HGMD Variants: 655 chr1:59147548:C:A 2487_1168_390_E->* 655 oneKG Variants: 655 chr1:59125683:C:T 2487_2473_825_E->K 0.302516 655 chr1:59125688:G:A 2487_2468_823_T->I 0.000199681 655 chr1:59125704:T:C 2487_2452_818_T->A 0.000199681 655 chr1:59125710:C:T 2487_2446_816_G->R 0.000199681 655 chr1:59126870:C:T 2487_2300_767_R->Q 0.000399361 655 chr1:59126873:C:T 2487_2297_766_R->H 0.000199681 655 chr1:59126874:G:A 2487_2296_766_R->C 0.000798722 655 chr1:59126891:G:A 2487_2279_760_P->L 0.000599042 655 chr1:59127109:A:G 2487_2239_747_W->R 0.000199681 655 chr1:59132825:T:C 2487_1916_639_Q->R 0.000798722 655 chr1:59134708:G:A 2487_1664_555_S->L 0.00139776 655 chr1:59137597:C:G 2487_1606_536_E->Q 0.000599042 655 chr1:59139279:C:T 2487_1538_513_C->Y 0.000199681 655 chr1:59139321:C:T 2487_1496_499_R->H 0.000199681 655 chr1:59141237:T:C 2487_1406_469_N->S 0.000199681 655 chr1:59142672:T:C 2487_1316_439_N->S 0.000199681 655 chr1:59142727:C:T 2487_1261_421_E->K 0.000199681 655 chr1:59147475:T:C 2487_1241_414_N->S 0.000199681 655 chr1:59147497:C:G 2487_1219_407_E->Q 0.000399361 655 chr1:59147644:G:T 2487_1072_358_H->N 0.000199681 655 chr1:59147799:T:G 2487_917_306_K->T 0.00958466 655 chr1:59147836:T:A 2487_880_294_I->F 0.000199681 655 chr1:59147926:T:C 2487_790_264_T->A 0.368011 655 chr1:59147962:T:G 2487_754_252_S->R 0.000399361 655 chr1:59148118:A:T 2487_598_200_C->S 0.155751 655 chr1:59148133:C:T 2487_583_195_A->T 0.000199681 655 chr1:59148136:T:C 2487_580_194_K->E 0.0081869 655 chr1:59148183:T:C 2487_533_178_Q->R 0.000199681 655 chr1:59148208:C:T 2487_508_170_G->S 0.000199681 655 chr1:59154729:T:G 2487_380_127_E->A 0.000199681 655 chr1:59156033:T:A 2487_275_92_D->V 0.000199681 655 chr1:59158593:A:G 2487_158_53_L->S 0.000199681 655 chr1:59160874:C:T 2487_74_25_G->D 0.000199681 655 chr1:59165660:G:A 2487_65_22_P->L 0.000199681 655 chr1:59165697:T:C 2487_28_10_I->V 0.000199681 655 na12878 Variants: 655 chr1:59147926:T:C 2487_790_264_T->A 655 snyder Variants: 655 chr1:59125683:C:T 2487_2473_825_E->K 655 chr1:59147926:T:C 2487_790_264_T->A 655 chr1:59148118:A:T 2487_598_200_C->S 656 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000197321_ENST00000375398 gene_Name: SVIL_HUMAN 656 list of pdbs: 656 2K6N pdb_description: 14-Jul-09 NMR 1 Solution structure of human supervillin headpiece, minimized average 656 2K6M pdb_description: 14-Jul-09 NMR 22 Solution structure of human supervillin headpiece 656 Zimmer Variants: 656 chr10:29822032:C:T 6645_1264_422_V->I;GENE=SVIL;CDSS=1;DBRECUR=SVIL 656 HGMD Variants: 656 chr10:29769625:C:A 6645_5218_1740_E->* 656 oneKG Variants: 656 chr10:29747213:T:C 6645_6608_2203_K->R 0.000199681 656 chr10:29747220:C:T 6645_6601_2201_A->T 0.000199681 656 chr10:29747377:C:T 6645_6544_2182_D->N 0.000199681 656 chr10:29747415:T:G 6645_6506_2169_E->A 0.000199681 656 chr10:29751330:C:G 6645_6278_2093_G->A 0.000199681 656 chr10:29752480:C:T 6645_6218_2073_R->H 0.000199681 656 chr10:29752501:T:C 6645_6197_2066_N->S 0.000199681 656 chr10:29754526:G:C 6645_6131_2044_P->R 0.000199681 656 chr10:29754535:G:A 6645_6122_2041_A->V 0.0491214 656 chr10:29754644:T:C 6645_6013_2005_I->V 0.185304 656 chr10:29754659:C:G 6645_5998_2000_A->P 0.000199681 656 chr10:29756691:G:A 6645_5957_1986_A->V 0.000199681 656 chr10:29759287:G:A 6645_5761_1921_L->F 0.000199681 656 chr10:29759403:C:T 6645_5645_1882_R->Q 0.000199681 656 chr10:29762798:G:A 6645_5498_1833_T->M 0.000199681 656 chr10:29762829:C:T 6645_5467_1823_V->M 0.000199681 656 chr10:29769481:T:C 6645_5362_1788_M->V 0.000199681 656 chr10:29769589:C:T 6645_5254_1752_V->I 0.0625 656 chr10:29769633:C:T 6645_5210_1737_G->D 0.000199681 656 chr10:29769649:C:T 6645_5194_1732_V->I 0.000199681 656 chr10:29769651:T:A 6645_5192_1731_N->I 0.000199681 656 chr10:29769658:C:T 6645_5185_1729_G->R 0.000199681 656 chr10:29769703:G:A 6645_5140_1714_R->W 0.000199681 656 chr10:29769705:G:A 6645_5138_1713_T->I 0.00199681 656 chr10:29770526:A:G 6645_5087_1696_L->P 0.000199681 656 chr10:29770551:A:G 6645_5062_1688_S->P 0.0505192 656 chr10:29770561:T:A 6645_5052_1684_E->D 0.000199681 656 chr10:29770565:G:A 6645_5048_1683_T->M 0.000798722 656 chr10:29770657:T:G 6645_4956_1652_R->S 0.000199681 656 chr10:29773597:G:A 6645_4943_1648_P->L 0.000199681 656 chr10:29773651:G:C 6645_4889_1630_T->S 0.0133786 656 chr10:29773727:C:T 6645_4813_1605_V->I 0.000199681 656 chr10:29775078:T:C 6645_4715_1572_K->R 0.000199681 656 chr10:29775120:G:T 6645_4673_1558_A->D 0.000199681 656 chr10:29775132:A:C 6645_4661_1554_L->R 0.00419329 656 chr10:29775443:C:T 6645_4529_1510_G->D 0.000199681 656 chr10:29776109:C:T 6645_4468_1490_V->I 0.000399361 656 chr10:29776144:T:C 6645_4433_1478_H->R 0.000199681 656 chr10:29777559:T:A 6645_4319_1440_Y->F 0.00479233 656 chr10:29777566:C:T 6645_4312_1438_V->M 0.000199681 656 chr10:29777569:C:T 6645_4309_1437_A->T 0.000199681 656 chr10:29777637:C:G 6645_4241_1414_S->T 0.00539137 656 chr10:29777670:T:C 6645_4208_1403_N->S 0.000599042 656 chr10:29779826:T:C 6645_4142_1381_Q->R 0.000199681 656 chr10:29779839:C:T 6645_4129_1377_E->K 0.00319489 656 chr10:29779862:G:A 6645_4106_1369_A->V 0.000199681 656 chr10:29779914:C:T 6645_4054_1352_V->I 0.0135783 656 chr10:29782237:C:G 6645_3925_1309_A->P 0.000199681 656 chr10:29782306:C:T 6645_3856_1286_E->K 0.000399361 656 chr10:29783907:C:T 6645_3777_1259_M->I 0.000199681 656 chr10:29783912:C:T 6645_3772_1258_D->N 0.000199681 656 chr10:29784026:A:G 6645_3749_1250_L->P 0.00139776 656 chr10:29784039:C:T 6645_3736_1246_V->I 0.000199681 656 chr10:29784063:C:T 6645_3712_1238_G->S 0.000199681 656 chr10:29784090:T:C 6645_3685_1229_I->V 0.000399361 656 chr10:29784104:G:A 6645_3671_1224_A->V 0.000199681 656 chr10:29788179:C:G 6645_3530_1177_S->T 0.000199681 656 chr10:29788192:G:A 6645_3517_1173_R->W 0.00119808 656 chr10:29801680:C:T 6645_3500_1167_R->Q 0.0061901 656 chr10:29801681:G:A 6645_3499_1167_R->W 0.000199681 656 chr10:29811538:C:T 6645_3190_1064_E->K 0.000199681 656 chr10:29811564:G:A 6645_3164_1055_A->V 0.000599042 656 chr10:29812422:C:A 6645_3121_1041_V->L 0.151757 656 chr10:29812517:G:A 6645_3026_1009_T->I 0.000199681 656 chr10:29812535:C:T 6645_3008_1003_R->Q 0.000399361 656 chr10:29812536:G:A 6645_3007_1003_R->W 0.000798722 656 chr10:29812734:C:T 6645_2809_937_G->S 0.000199681 656 chr10:29812740:C:T 6645_2803_935_V->I 0.000599042 656 chr10:29812769:A:G 6645_2774_925_I->T 0.000798722 656 chr10:29812818:A:T 6645_2725_909_Y->N 0.000199681 656 chr10:29812869:C:T 6645_2674_892_G->R 0.000599042 656 chr10:29812889:G:A 6645_2654_885_T->M 0.00219649 656 chr10:29812928:G:A 6645_2615_872_S->L 0.000599042 656 chr10:29813439:A:G 6645_2548_850_Y->H 0.000199681 656 chr10:29813451:T:C 6645_2536_846_M->V 0.000199681 656 chr10:29813465:G:C 6645_2522_841_T->R 0.000199681 656 chr10:29813466:T:C 6645_2521_841_T->A 0.000199681 656 chr10:29813481:G:A 6645_2506_836_R->W 0.000399361 656 chr10:29813639:T:C 6645_2348_783_Q->R 0.000199681 656 chr10:29815918:C:T 6645_2314_772_V->I 0.000199681 656 chr10:29815933:G:A 6645_2299_767_L->F 0.000199681 656 chr10:29818634:G:A 6645_2246_749_T->I 0.000399361 656 chr10:29818659:T:G 6645_2221_741_T->P 0.000199681 656 chr10:29818695:G:A 6645_2185_729_R->C 0.000199681 656 chr10:29819562:C:T 6645_2080_694_V->I 0.000399361 656 chr10:29819576:C:T 6645_2066_689_R->Q 0.000199681 656 chr10:29820197:G:A 6645_2030_677_T->M 0.000399361 656 chr10:29820206:T:G 6645_2021_674_H->P 0.000199681 656 chr10:29820937:G:A 6645_2003_668_S->L 0.0153754 656 chr10:29820983:C:T 6645_1957_653_E->K 0.000199681 656 chr10:29820991:T:C 6645_1949_650_K->R 0.000199681 656 chr10:29821030:C:T 6645_1910_637_R->Q 0.000199681 656 chr10:29821067:C:T 6645_1873_625_G->S 0.000199681 656 chr10:29821081:G:A 6645_1859_620_S->L 0.000199681 656 chr10:29821560:T:G 6645_1736_579_E->A 0.000599042 656 chr10:29821630:G:C 6645_1666_556_Q->E 0.000399361 656 chr10:29821660:G:A 6645_1636_546_R->C 0.000199681 656 chr10:29821665:C:T 6645_1631_544_R->H 0.000399361 656 chr10:29821683:G:A 6645_1613_538_S->L 0.000399361 656 chr10:29821687:C:T 6645_1609_537_A->T 0.000399361 656 chr10:29821714:C:A 6645_1582_528_A->S 0.00419329 656 chr10:29821756:C:T 6645_1540_514_E->K 0.000798722 656 chr10:29821758:C:T 6645_1538_513_S->N 0.00119808 656 chr10:29821788:G:A 6645_1508_503_P->L 0.000199681 656 chr10:29821801:G:A 6645_1495_499_P->S 0.000798722 656 chr10:29822026:C:T 6645_1270_424_E->K 0.000199681 656 chr10:29822032:C:T 6645_1264_422_V->I 0.006789 656 chr10:29822034:T:C 6645_1262_421_H->R 0.000199681 656 chr10:29822073:G:A 6645_1223_408_T->M 0.000199681 656 chr10:29822116:C:T 6645_1180_394_V->I 0.000199681 656 chr10:29822185:C:A 6645_1111_371_A->S 0.000399361 656 chr10:29822202:C:T 6645_1094_365_R->H 0.000199681 656 chr10:29822358:T:C 6645_938_313_E->G 0.00379393 656 chr10:29822365:C:T 6645_931_311_V->M 0.000199681 656 chr10:29839640:G:C 6645_713_238_S->C 0.000199681 656 chr10:29839710:G:A 6645_643_215_R->W 0.0101837 656 chr10:29839717:A:T 6645_636_212_S->R 0.000199681 656 chr10:29839748:A:G 6645_605_202_I->T 0.000199681 656 chr10:29839785:C:A 6645_568_190_G->C 0.000399361 656 chr10:29839787:A:G 6645_566_189_V->A 0.307907 656 chr10:29839794:G:A 6645_559_187_L->F 0.000599042 656 chr10:29839829:A:G 6645_524_175_L->P 0.000199681 656 chr10:29839842:C:T 6645_511_171_E->K 0.000199681 656 chr10:29839848:C:T 6645_505_169_G->R 0.000199681 656 chr10:29839853:T:C 6645_500_167_Y->C 0.0 656 chr10:29839897:T:G 6645_456_152_K->N 0.000199681 656 chr10:29839902:C:T 6645_451_151_G->R 0.000199681 656 chr10:29839950:G:A 6645_403_135_R->C 0.000199681 656 chr10:29839974:C:T 6645_379_127_E->K 0.000199681 656 chr10:29843775:G:A 6645_97_33_R->C 0.000199681 656 na12878 Variants: 656 chr10:29754535:G:A 6645_6122_2041_A->V 656 chr10:29770551:A:G 6645_5062_1688_S->P 656 chr10:29822032:C:T 6645_1264_422_V->I 656 chr10:29839787:A:G 6645_566_189_V->A 656 snyder Variants: 656 chr10:29754644:T:C 6645_6013_2005_I->V 656 chr10:29822032:C:T 6645_1264_422_V->I 657 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000197321_ENST00000355867 gene_Name: SVIL_HUMAN 657 list of pdbs: 657 2K6N pdb_description: 14-Jul-09 NMR 1 Solution structure of human supervillin headpiece, minimized average 657 2K6M pdb_description: 14-Jul-09 NMR 22 Solution structure of human supervillin headpiece 657 Zimmer Variants: 657 chr10:29822032:C:T 6645_1264_422_V->I 657 HGMD Variants: 657 chr10:29769625:C:A 6645_5218_1740_E->* 657 oneKG Variants: 657 chr10:29747213:T:C 6645_6608_2203_K->R 0.000199681 657 chr10:29747220:C:T 6645_6601_2201_A->T 0.000199681 657 chr10:29747377:C:T 6645_6544_2182_D->N 0.000199681 657 chr10:29747415:T:G 6645_6506_2169_E->A 0.000199681 657 chr10:29751330:C:G 6645_6278_2093_G->A 0.000199681 657 chr10:29752480:C:T 6645_6218_2073_R->H 0.000199681 657 chr10:29752501:T:C 6645_6197_2066_N->S 0.000199681 657 chr10:29754526:G:C 6645_6131_2044_P->R 0.000199681 657 chr10:29754535:G:A 6645_6122_2041_A->V 0.0491214 657 chr10:29754644:T:C 6645_6013_2005_I->V 0.185304 657 chr10:29754659:C:G 6645_5998_2000_A->P 0.000199681 657 chr10:29756691:G:A 6645_5957_1986_A->V 0.000199681 657 chr10:29759287:G:A 6645_5761_1921_L->F 0.000199681 657 chr10:29759403:C:T 6645_5645_1882_R->Q 0.000199681 657 chr10:29762798:G:A 6645_5498_1833_T->M 0.000199681 657 chr10:29762829:C:T 6645_5467_1823_V->M 0.000199681 657 chr10:29769481:T:C 6645_5362_1788_M->V 0.000199681 657 chr10:29769589:C:T 6645_5254_1752_V->I 0.0625 657 chr10:29769633:C:T 6645_5210_1737_G->D 0.000199681 657 chr10:29769649:C:T 6645_5194_1732_V->I 0.000199681 657 chr10:29769651:T:A 6645_5192_1731_N->I 0.000199681 657 chr10:29769658:C:T 6645_5185_1729_G->R 0.000199681 657 chr10:29769703:G:A 6645_5140_1714_R->W 0.000199681 657 chr10:29769705:G:A 6645_5138_1713_T->I 0.00199681 657 chr10:29770526:A:G 6645_5087_1696_L->P 0.000199681 657 chr10:29770551:A:G 6645_5062_1688_S->P 0.0505192 657 chr10:29770561:T:A 6645_5052_1684_E->D 0.000199681 657 chr10:29770565:G:A 6645_5048_1683_T->M 0.000798722 657 chr10:29770657:T:G 6645_4956_1652_R->S 0.000199681 657 chr10:29773597:G:A 6645_4943_1648_P->L 0.000199681 657 chr10:29773651:G:C 6645_4889_1630_T->S 0.0133786 657 chr10:29773727:C:T 6645_4813_1605_V->I 0.000199681 657 chr10:29775078:T:C 6645_4715_1572_K->R 0.000199681 657 chr10:29775120:G:T 6645_4673_1558_A->D 0.000199681 657 chr10:29775132:A:C 6645_4661_1554_L->R 0.00419329 657 chr10:29775443:C:T 6645_4529_1510_G->D 0.000199681 657 chr10:29776109:C:T 6645_4468_1490_V->I 0.000399361 657 chr10:29776144:T:C 6645_4433_1478_H->R 0.000199681 657 chr10:29777559:T:A 6645_4319_1440_Y->F 0.00479233 657 chr10:29777566:C:T 6645_4312_1438_V->M 0.000199681 657 chr10:29777569:C:T 6645_4309_1437_A->T 0.000199681 657 chr10:29777637:C:G 6645_4241_1414_S->T 0.00539137 657 chr10:29777670:T:C 6645_4208_1403_N->S 0.000599042 657 chr10:29779826:T:C 6645_4142_1381_Q->R 0.000199681 657 chr10:29779839:C:T 6645_4129_1377_E->K 0.00319489 657 chr10:29779862:G:A 6645_4106_1369_A->V 0.000199681 657 chr10:29779914:C:T 6645_4054_1352_V->I 0.0135783 657 chr10:29782237:C:G 6645_3925_1309_A->P 0.000199681 657 chr10:29782306:C:T 6645_3856_1286_E->K 0.000399361 657 chr10:29783907:C:T 6645_3777_1259_M->I 0.000199681 657 chr10:29783912:C:T 6645_3772_1258_D->N 0.000199681 657 chr10:29784026:A:G 6645_3749_1250_L->P 0.00139776 657 chr10:29784039:C:T 6645_3736_1246_V->I 0.000199681 657 chr10:29784063:C:T 6645_3712_1238_G->S 0.000199681 657 chr10:29784090:T:C 6645_3685_1229_I->V 0.000399361 657 chr10:29784104:G:A 6645_3671_1224_A->V 0.000199681 657 chr10:29788179:C:G 6645_3530_1177_S->T 0.000199681 657 chr10:29788192:G:A 6645_3517_1173_R->W 0.00119808 657 chr10:29801680:C:T 6645_3500_1167_R->Q 0.0061901 657 chr10:29801681:G:A 6645_3499_1167_R->W 0.000199681 657 chr10:29811538:C:T 6645_3190_1064_E->K 0.000199681 657 chr10:29811564:G:A 6645_3164_1055_A->V 0.000599042 657 chr10:29812422:C:A 6645_3121_1041_V->L 0.151757 657 chr10:29812517:G:A 6645_3026_1009_T->I 0.000199681 657 chr10:29812535:C:T 6645_3008_1003_R->Q 0.000399361 657 chr10:29812536:G:A 6645_3007_1003_R->W 0.000798722 657 chr10:29812734:C:T 6645_2809_937_G->S 0.000199681 657 chr10:29812740:C:T 6645_2803_935_V->I 0.000599042 657 chr10:29812769:A:G 6645_2774_925_I->T 0.000798722 657 chr10:29812818:A:T 6645_2725_909_Y->N 0.000199681 657 chr10:29812869:C:T 6645_2674_892_G->R 0.000599042 657 chr10:29812889:G:A 6645_2654_885_T->M 0.00219649 657 chr10:29812928:G:A 6645_2615_872_S->L 0.000599042 657 chr10:29813439:A:G 6645_2548_850_Y->H 0.000199681 657 chr10:29813451:T:C 6645_2536_846_M->V 0.000199681 657 chr10:29813465:G:C 6645_2522_841_T->R 0.000199681 657 chr10:29813466:T:C 6645_2521_841_T->A 0.000199681 657 chr10:29813481:G:A 6645_2506_836_R->W 0.000399361 657 chr10:29813639:T:C 6645_2348_783_Q->R 0.000199681 657 chr10:29815918:C:T 6645_2314_772_V->I 0.000199681 657 chr10:29815933:G:A 6645_2299_767_L->F 0.000199681 657 chr10:29818634:G:A 6645_2246_749_T->I 0.000399361 657 chr10:29818659:T:G 6645_2221_741_T->P 0.000199681 657 chr10:29818695:G:A 6645_2185_729_R->C 0.000199681 657 chr10:29819562:C:T 6645_2080_694_V->I 0.000399361 657 chr10:29819576:C:T 6645_2066_689_R->Q 0.000199681 657 chr10:29820197:G:A 6645_2030_677_T->M 0.000399361 657 chr10:29820206:T:G 6645_2021_674_H->P 0.000199681 657 chr10:29820937:G:A 6645_2003_668_S->L 0.0153754 657 chr10:29820983:C:T 6645_1957_653_E->K 0.000199681 657 chr10:29820991:T:C 6645_1949_650_K->R 0.000199681 657 chr10:29821030:C:T 6645_1910_637_R->Q 0.000199681 657 chr10:29821067:C:T 6645_1873_625_G->S 0.000199681 657 chr10:29821081:G:A 6645_1859_620_S->L 0.000199681 657 chr10:29821560:T:G 6645_1736_579_E->A 0.000599042 657 chr10:29821630:G:C 6645_1666_556_Q->E 0.000399361 657 chr10:29821660:G:A 6645_1636_546_R->C 0.000199681 657 chr10:29821665:C:T 6645_1631_544_R->H 0.000399361 657 chr10:29821683:G:A 6645_1613_538_S->L 0.000399361 657 chr10:29821687:C:T 6645_1609_537_A->T 0.000399361 657 chr10:29821714:C:A 6645_1582_528_A->S 0.00419329 657 chr10:29821756:C:T 6645_1540_514_E->K 0.000798722 657 chr10:29821758:C:T 6645_1538_513_S->N 0.00119808 657 chr10:29821788:G:A 6645_1508_503_P->L 0.000199681 657 chr10:29821801:G:A 6645_1495_499_P->S 0.000798722 657 chr10:29822026:C:T 6645_1270_424_E->K 0.000199681 657 chr10:29822032:C:T 6645_1264_422_V->I 0.006789 657 chr10:29822034:T:C 6645_1262_421_H->R 0.000199681 657 chr10:29822073:G:A 6645_1223_408_T->M 0.000199681 657 chr10:29822116:C:T 6645_1180_394_V->I 0.000199681 657 chr10:29822185:C:A 6645_1111_371_A->S 0.000399361 657 chr10:29822202:C:T 6645_1094_365_R->H 0.000199681 657 chr10:29822358:T:C 6645_938_313_E->G 0.00379393 657 chr10:29822365:C:T 6645_931_311_V->M 0.000199681 657 chr10:29839640:G:C 6645_713_238_S->C 0.000199681 657 chr10:29839710:G:A 6645_643_215_R->W 0.0101837 657 chr10:29839717:A:T 6645_636_212_S->R 0.000199681 657 chr10:29839748:A:G 6645_605_202_I->T 0.000199681 657 chr10:29839785:C:A 6645_568_190_G->C 0.000399361 657 chr10:29839787:A:G 6645_566_189_V->A 0.307907 657 chr10:29839794:G:A 6645_559_187_L->F 0.000599042 657 chr10:29839829:A:G 6645_524_175_L->P 0.000199681 657 chr10:29839842:C:T 6645_511_171_E->K 0.000199681 657 chr10:29839848:C:T 6645_505_169_G->R 0.000199681 657 chr10:29839853:T:C 6645_500_167_Y->C 0.0 657 chr10:29839897:T:G 6645_456_152_K->N 0.000199681 657 chr10:29839902:C:T 6645_451_151_G->R 0.000199681 657 chr10:29839950:G:A 6645_403_135_R->C 0.000199681 657 chr10:29839974:C:T 6645_379_127_E->K 0.000199681 657 chr10:29843775:G:A 6645_97_33_R->C 0.000199681 657 na12878 Variants: 657 chr10:29754535:G:A 6645_6122_2041_A->V 657 chr10:29770551:A:G 6645_5062_1688_S->P 657 chr10:29822032:C:T 6645_1264_422_V->I 657 chr10:29839787:A:G 6645_566_189_V->A 657 snyder Variants: 657 chr10:29754644:T:C 6645_6013_2005_I->V 657 chr10:29822032:C:T 6645_1264_422_V->I 658 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000118113_ENST00000236826 gene_Name: MMP8_HUMAN 658 list of pdbs: 658 3TT4 pdb_description: 20-Jun-12 X-ray 1.880 Human mmp8 in complex with l-glutamate motif inhibitor 658 3DPF pdb_description: 03-Mar-09 X-ray 2.100 Crystal structure of the complex between mmp-8 and a non- zinc chelating inhibitor 658 3DPE pdb_description: 03-Mar-09 X-ray 1.600 Crystal structure of the complex between mmp-8 and a non- zinc chelating inhibitor 658 3DNG pdb_description: 03-Mar-09 X-ray 2.000 Crystal structure of the complex between mmp-8 and a non- zinc chelating inhibitor 658 2OY4 pdb_description: 06-Mar-07 X-ray 1.700 Uninhibited human mmp-8 658 2OY2 pdb_description: 06-Mar-07 X-ray 1.500 Human mmp-8 in complex with peptide iag 658 1ZVX pdb_description: 16-May-06 X-ray 1.870 Crystal structure of the complex between mmp-8 and a phosphonate inhibitor (r-enantiomer) 658 1ZS0 pdb_description: 02-May-06 X-ray 1.560 Crystal structure of the complex between mmp-8 and a phosphonate inhibitor (s-enantiomer) 658 1ZP5 pdb_description: 06-Dec-05 X-ray 1.800 Crystal structure of the complex between mmp-8 and a n- hydroxyurea inhibitor 658 1MNC pdb_description: 07-Feb-95 X-ray 2.100 Structure of human neutrophil collagenase reveals large s1' specificity pocket 658 1MMB pdb_description: 14-Oct-96 X-ray 2.100 Complex of bb94 with the catalytic domain of matrix metalloproteinase-8 658 1KBC pdb_description: 12-Aug-97 X-ray 1.800 Procarboxypeptidase ternary complex 658 1JJ9 pdb_description: 01-Aug-01 X-ray 2.000 Crystal structure of mmp8-barbiturate complex reveals mechanism for collagen substrate recognition 658 1JH1 pdb_description: 27-Dec-01 X-ray 2.700 Crystal structure of mmp-8 complexed with a 6h-1,3,4- thiadiazine derived inhibitor 658 1JAQ pdb_description: 11-Jul-96 X-ray 2.400 Complex of 1-hydroxylamine-2-isobutylmalonyl-ala-gly-nh2 wit catalytic domain of matrix metallo proteinase-8 (met80 form 658 1JAP pdb_description: 11-Jul-96 X-ray 1.820 Complex of pro-leu-gly-hydroxylamine with the catalytic domain of matrix metallo proteinase-8 (met80 form) 658 1JAO pdb_description: 11-Jul-96 X-ray 2.400 Complex of 3-mercapto-2-benzylpropanoyl-ala-gly-nh2 with the domain of matrix metallo proteinase-8 (met80 form) 658 1JAN pdb_description: 11-Jul-96 X-ray 2.500 Complex of pro-leu-gly-hydroxylamine with the catalytic doma matrix metallo proteinase-8 (phe79 form) 658 1I76 pdb_description: 21-Mar-01 X-ray 1.200 Complex of 2-(biphenyl-4-sulfonyl)-1,2,3,4-tetrahydro- isoquinoline-3-carboxylic acid (d-tic derivative) with t catalitic domain of matrix metallo proteinase-8 (met80 form) 658 1I73 pdb_description: 21-Mar-01 X-ray 1.400 Complex of pro-leu-l-trp phosphonate with the catalitic doma matrix metallo proteinase-8 (met80 form) 658 1BZS pdb_description: 31-May-00 X-ray 1.700 Crystal structure of mmp8 complexed with hmr2909 658 1A86 pdb_description: 04-May-99 X-ray 2.000 Mmp8 with malonic and aspartic acid based inhibitor 658 1A85 pdb_description: 27-Apr-99 X-ray 2.000 Mmp8 with malonic and asparagine based inhibitor 658 Zimmer Variants: 658 chr11:102593248:T:C 1404_259_87_K->E;GENE=MMP8;CDSS=1 658 chr11:102595492:G:A 1404_95_32_T->I 658 HGMD Variants: 658 chr11:102593283:G:A 1404_224_75_T->M 658 oneKG Variants: 658 chr11:102584135:G:A 1404_1348_450_Q->* 0.00638978 658 chr11:102586146:G:A 1404_925_309_Q->* 0.000199681 658 chr11:102592381:C:A 1404_460_154_G->* 0.000599042 658 chr11:102595487:G:A 1404_100_34_Q->* 0.000798722 658 chr11:102584096:T:C 1404_1387_463_N->D 0.0103834 658 chr11:102584104:T:G 1404_1379_460_K->T 0.0882588 658 chr11:102584161:C:A 1404_1322_441_R->I 0.000199681 658 chr11:102584176:A:G 1404_1307_436_V->A 0.00379393 658 chr11:102584494:G:C 1404_1285_429_Q->E 0.00179712 658 chr11:102585294:A:G 1404_1183_395_F->L 0.000199681 658 chr11:102585357:C:T 1404_1120_374_V->I 0.000199681 658 chr11:102585395:T:G 1404_1082_361_Y->S 0.000199681 658 chr11:102585413:T:C 1404_1064_355_Y->C 0.000199681 658 chr11:102586142:A:G 1404_929_310_L->P 0.00159744 658 chr11:102586153:C:G 1404_918_306_R->S 0.000199681 658 chr11:102587037:C:T 1404_898_300_D->N 0.00119808 658 chr11:102587060:C:T 1404_875_292_R->H 0.000199681 658 chr11:102587078:T:C 1404_857_286_D->G 0.000199681 658 chr11:102589168:A:G 1404_761_254_I->T 0.000199681 658 chr11:102589213:T:C 1404_716_239_Y->C 0.000199681 658 chr11:102589280:G:A 1404_649_217_H->Y 0.000399361 658 chr11:102592159:C:T 1404_595_199_E->K 0.000599042 658 chr11:102592176:T:A 1404_578_193_D->V 0.000199681 658 chr11:102592227:G:A 1404_527_176_P->L 0.000199681 658 chr11:102592380:C:T 1404_461_154_G->E 0.0101837 658 chr11:102592417:C:T 1404_424_142_V->I 0.000199681 658 chr11:102592463:C:G 1404_378_126_E->D 0.000599042 658 chr11:102592488:C:T 1404_353_118_R->Q 0.00399361 658 chr11:102593170:A:C 1404_337_113_L->V 0.000199681 658 chr11:102593178:C:T 1404_329_110_R->H 0.000199681 658 chr11:102593217:C:T 1404_290_97_G->D 0.000199681 658 chr11:102593239:G:A 1404_268_90_R->C 0.000199681 658 chr11:102593248:T:C 1404_259_87_K->E 0.39996 658 chr11:102593266:C:T 1404_241_81_E->K 0.000399361 658 chr11:102593329:C:T 1404_178_60_V->I 0.0151757 658 chr11:102595486:T:C 1404_101_34_Q->R 0.000199681 658 chr11:102595492:G:A 1404_95_32_T->I 0.345647 658 chr11:102595498:G:A 1404_89_30_T->I 0.000199681 658 chr11:102595573:T:C 1404_14_5_K->R 0.000599042 658 chr11:102595579:G:C 1404_8_3_S->C 0.0397364 658 chr11:102595583:A:C 1404_4_2_F->V 0.000199681 658 na12878 Variants: 658 chr11:102593248:T:C 1404_259_87_K->E 658 chr11:102595492:G:A 1404_95_32_T->I 658 snyder Variants: 658 chr11:102593248:T:C 1404_259_87_K->E 658 chr11:102595492:G:A 1404_95_32_T->I 659 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132256_ENST00000396855 gene_Name: TRIM5_HUMAN 659 list of pdbs: 659 2YRG pdb_description: 02-Oct-07 NMR 20 Solution structure of the b-box domain from tripartite motif-containing protein 5 659 2ECV pdb_description: 19-Feb-08 NMR 20 Solution structure of the zinc finger, c3hc4 type (ring finger) domain of tripartite motif-containing protein 5 659 Zimmer Variants: 659 chr11:5688940:C:T 981_746_249_G->D 659 HGMD Variants: 659 chr11:5688940:C:T 981_746_249_G->D 659 chr11:5701001:C:T 981_407_136_R->Q 659 chr11:5701281:G:A 981_127_43_H->Y 659 oneKG Variants: 659 chr11:5687250:G:A 981_829_277_R->* 0.000798722 659 chr11:5685349:T:G 981_950_317_Q->P 0.000399361 659 chr11:5685380:G:A 981_919_307_R->W 0.000599042 659 chr11:5685385:C:T 981_914_305_R->Q 0.0159744 659 chr11:5687309:G:A 981_770_257_T->M 0.000399361 659 chr11:5688940:C:T 981_746_249_G->D 0.245208 659 chr11:5699465:C:T 981_713_238_R->Q 0.000199681 659 chr11:5699466:G:A 981_712_238_R->W 0.00219649 659 chr11:5699471:T:C 981_707_236_E->G 0.000399361 659 chr11:5699475:G:C 981_703_235_L->V 0.000199681 659 chr11:5699534:G:A 981_644_215_T->M 0.000199681 659 chr11:5699538:G:A 981_640_214_L->F 0.000599042 659 chr11:5699631:C:T 981_547_183_A->T 0.000199681 659 chr11:5700372:G:C 981_445_149_L->V 0.000199681 659 chr11:5700399:C:G 981_418_140_V->L 0.000798722 659 chr11:5701001:C:T 981_407_136_R->Q 0.184904 659 chr11:5701046:T:C 981_362_121_Q->R 0.000199681 659 chr11:5701052:C:T 981_356_119_R->Q 0.000399361 659 chr11:5701053:G:A 981_355_119_R->W 0.000199681 659 chr11:5701074:C:A 981_334_112_V->F 0.086262 659 chr11:5701079:C:T 981_329_110_G->E 0.00379393 659 chr11:5701118:C:T 981_290_97_R->H 0.000199681 659 chr11:5701160:A:G 981_248_83_V->A 0.000199681 659 chr11:5701178:A:G 981_230_77_V->A 0.000199681 659 chr11:5701232:C:T 981_176_59_R->Q 0.000199681 659 chr11:5701235:C:T 981_173_58_C->Y 0.000599042 659 chr11:5701260:T:C 981_148_50_K->E 0.000199681 659 chr11:5701281:G:A 981_127_43_H->Y 0.111422 659 chr11:5701317:C:T 981_91_31_G->S 0.0071885 659 na12878 Variants: 659 chr11:5701001:C:T 981_407_136_R->Q 659 snyder Variants: 659 chr11:5701001:C:T 981_407_136_R->Q 659 chr11:5701281:G:A 981_127_43_H->Y 660 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132256_ENST00000380034 gene_Name: TRIM5_HUMAN 660 list of pdbs: 660 2YRG pdb_description: 02-Oct-07 NMR 20 Solution structure of the b-box domain from tripartite motif-containing protein 5 660 2ECV pdb_description: 19-Feb-08 NMR 20 Solution structure of the zinc finger, c3hc4 type (ring finger) domain of tripartite motif-containing protein 5 660 Zimmer Variants: 660 chr11:5688940:C:T 1482_746_249_G->D 660 HGMD Variants: 660 chr11:5686527:G:A 1482_994_332_R->* 660 chr11:5686266:G:A 1482_1255_419_H->Y 660 chr11:5688940:C:T 1482_746_249_G->D 660 chr11:5701001:C:T 1482_407_136_R->Q 660 chr11:5701281:G:A 1482_127_43_H->Y 660 oneKG Variants: 660 chr11:5687250:G:A 1482_829_277_R->* 0.000798722 660 chr11:5686085:G:A 1482_1436_479_P->L 0.0119808 660 chr11:5686113:A:G 1482_1408_470_S->P 0.000199681 660 chr11:5686121:C:G 1482_1400_467_C->S 0.000199681 660 chr11:5686140:T:G 1482_1381_461_I->L 0.000399361 660 chr11:5686151:T:C 1482_1370_457_H->R 0.000199681 660 chr11:5686213:A:C 1482_1308_436_D->E 0.000399361 660 chr11:5686265:T:C 1482_1256_419_H->R 0.000199681 660 chr11:5686266:G:A 1482_1255_419_H->Y 0.0271565 660 chr11:5686334:T:A 1482_1187_396_K->I 0.000199681 660 chr11:5686394:C:T 1482_1127_376_C->Y 0.000199681 660 chr11:5686413:C:T 1482_1108_370_A->T 0.000199681 660 chr11:5686487:C:T 1482_1034_345_C->Y 0.000199681 660 chr11:5686575:C:T 1482_946_316_D->N 0.000199681 660 chr11:5687309:G:A 1482_770_257_T->M 0.000399361 660 chr11:5688940:C:T 1482_746_249_G->D 0.245208 660 chr11:5699465:C:T 1482_713_238_R->Q 0.000199681 660 chr11:5699466:G:A 1482_712_238_R->W 0.00219649 660 chr11:5699471:T:C 1482_707_236_E->G 0.000399361 660 chr11:5699475:G:C 1482_703_235_L->V 0.000199681 660 chr11:5699534:G:A 1482_644_215_T->M 0.000199681 660 chr11:5699538:G:A 1482_640_214_L->F 0.000599042 660 chr11:5699631:C:T 1482_547_183_A->T 0.000199681 660 chr11:5700372:G:C 1482_445_149_L->V 0.000199681 660 chr11:5700399:C:G 1482_418_140_V->L 0.000798722 660 chr11:5701001:C:T 1482_407_136_R->Q 0.184904 660 chr11:5701046:T:C 1482_362_121_Q->R 0.000199681 660 chr11:5701052:C:T 1482_356_119_R->Q 0.000399361 660 chr11:5701053:G:A 1482_355_119_R->W 0.000199681 660 chr11:5701074:C:A 1482_334_112_V->F 0.086262 660 chr11:5701079:C:T 1482_329_110_G->E 0.00379393 660 chr11:5701118:C:T 1482_290_97_R->H 0.000199681 660 chr11:5701160:A:G 1482_248_83_V->A 0.000199681 660 chr11:5701178:A:G 1482_230_77_V->A 0.000199681 660 chr11:5701232:C:T 1482_176_59_R->Q 0.000199681 660 chr11:5701235:C:T 1482_173_58_C->Y 0.000599042 660 chr11:5701260:T:C 1482_148_50_K->E 0.000199681 660 chr11:5701281:G:A 1482_127_43_H->Y 0.111422 660 chr11:5701317:C:T 1482_91_31_G->S 0.0071885 660 na12878 Variants: 660 chr11:5701001:C:T 1482_407_136_R->Q 660 snyder Variants: 660 chr11:5701001:C:T 1482_407_136_R->Q 660 chr11:5701281:G:A 1482_127_43_H->Y 661 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132256_ENST00000380027 gene_Name: TRIM5_HUMAN 661 list of pdbs: 661 2YRG pdb_description: 02-Oct-07 NMR 20 Solution structure of the b-box domain from tripartite motif-containing protein 5 661 2ECV pdb_description: 19-Feb-08 NMR 20 Solution structure of the zinc finger, c3hc4 type (ring finger) domain of tripartite motif-containing protein 5 661 Zimmer Variants: 661 chr11:5688940:C:T 981_746_249_G->D 661 HGMD Variants: 661 chr11:5688940:C:T 981_746_249_G->D 661 chr11:5701001:C:T 981_407_136_R->Q 661 chr11:5701281:G:A 981_127_43_H->Y 661 oneKG Variants: 661 chr11:5687250:G:A 981_829_277_R->* 0.000798722 661 chr11:5685349:T:G 981_950_317_Q->P 0.000399361 661 chr11:5685380:G:A 981_919_307_R->W 0.000599042 661 chr11:5685385:C:T 981_914_305_R->Q 0.0159744 661 chr11:5687309:G:A 981_770_257_T->M 0.000399361 661 chr11:5688940:C:T 981_746_249_G->D 0.245208 661 chr11:5699465:C:T 981_713_238_R->Q 0.000199681 661 chr11:5699466:G:A 981_712_238_R->W 0.00219649 661 chr11:5699471:T:C 981_707_236_E->G 0.000399361 661 chr11:5699475:G:C 981_703_235_L->V 0.000199681 661 chr11:5699534:G:A 981_644_215_T->M 0.000199681 661 chr11:5699538:G:A 981_640_214_L->F 0.000599042 661 chr11:5699631:C:T 981_547_183_A->T 0.000199681 661 chr11:5700372:G:C 981_445_149_L->V 0.000199681 661 chr11:5700399:C:G 981_418_140_V->L 0.000798722 661 chr11:5701001:C:T 981_407_136_R->Q 0.184904 661 chr11:5701046:T:C 981_362_121_Q->R 0.000199681 661 chr11:5701052:C:T 981_356_119_R->Q 0.000399361 661 chr11:5701053:G:A 981_355_119_R->W 0.000199681 661 chr11:5701074:C:A 981_334_112_V->F 0.086262 661 chr11:5701079:C:T 981_329_110_G->E 0.00379393 661 chr11:5701118:C:T 981_290_97_R->H 0.000199681 661 chr11:5701160:A:G 981_248_83_V->A 0.000199681 661 chr11:5701178:A:G 981_230_77_V->A 0.000199681 661 chr11:5701232:C:T 981_176_59_R->Q 0.000199681 661 chr11:5701235:C:T 981_173_58_C->Y 0.000599042 661 chr11:5701260:T:C 981_148_50_K->E 0.000199681 661 chr11:5701281:G:A 981_127_43_H->Y 0.111422 661 chr11:5701317:C:T 981_91_31_G->S 0.0071885 661 na12878 Variants: 661 chr11:5701001:C:T 981_407_136_R->Q 661 snyder Variants: 661 chr11:5701001:C:T 981_407_136_R->Q 661 chr11:5701281:G:A 981_127_43_H->Y 662 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132256_ENST00000396847 gene_Name: TRIM5_HUMAN 662 list of pdbs: 662 2YRG pdb_description: 02-Oct-07 NMR 20 Solution structure of the b-box domain from tripartite motif-containing protein 5 662 2ECV pdb_description: 19-Feb-08 NMR 20 Solution structure of the zinc finger, c3hc4 type (ring finger) domain of tripartite motif-containing protein 5 662 Zimmer Variants: 662 chr11:5688940:C:T 1044_746_249_G->D;GENE=TRIM5;CDSS=1 662 HGMD Variants: 662 chr11:5688940:C:T 1044_746_249_G->D 662 chr11:5701001:C:T 1044_407_136_R->Q 662 chr11:5701281:G:A 1044_127_43_H->Y 662 oneKG Variants: 662 chr11:5687250:G:A 1044_829_277_R->* 0.000798722 662 chr11:5686751:A:C 1044_1030_344_Y->D 0.000199681 662 chr11:5686810:C:G 1044_971_324_C->S 0.000199681 662 chr11:5686840:A:G 1044_941_314_L->S 0.000199681 662 chr11:5686870:T:A 1044_911_304_H->L 0.00519169 662 chr11:5687309:G:A 1044_770_257_T->M,1 0.000399361 662 chr11:5688940:C:T 1044_746_249_G->D 0.245208 662 chr11:5699465:C:T 1044_713_238_R->Q 0.000199681 662 chr11:5699466:G:A 1044_712_238_R->W 0.00219649 662 chr11:5699471:T:C 1044_707_236_E->G 0.000399361 662 chr11:5699475:G:C 1044_703_235_L->V 0.000199681 662 chr11:5699534:G:A 1044_644_215_T->M 0.000199681 662 chr11:5699538:G:A 1044_640_214_L->F 0.000599042 662 chr11:5699631:C:T 1044_547_183_A->T 0.000199681 662 chr11:5700372:G:C 1044_445_149_L->V 0.000199681 662 chr11:5700399:C:G 1044_418_140_V->L 0.000798722 662 chr11:5701001:C:T 1044_407_136_R->Q 0.184904 662 chr11:5701046:T:C 1044_362_121_Q->R 0.000199681 662 chr11:5701052:C:T 1044_356_119_R->Q 0.000399361 662 chr11:5701053:G:A 1044_355_119_R->W 0.000199681 662 chr11:5701074:C:A 1044_334_112_V->F 0.086262 662 chr11:5701079:C:T 1044_329_110_G->E 0.00379393 662 chr11:5701118:C:T 1044_290_97_R->H 0.000199681 662 chr11:5701160:A:G 1044_248_83_V->A 0.000199681 662 chr11:5701178:A:G 1044_230_77_V->A 0.000199681 662 chr11:5701232:C:T 1044_176_59_R->Q 0.000199681 662 chr11:5701235:C:T 1044_173_58_C->Y 0.000599042 662 chr11:5701260:T:C 1044_148_50_K->E 0.000199681 662 chr11:5701281:G:A 1044_127_43_H->Y 0.111422 662 chr11:5701317:C:T 1044_91_31_G->S 0.0071885 662 na12878 Variants: 662 chr11:5701001:C:T 1044_407_136_R->Q 662 snyder Variants: 662 chr11:5701001:C:T 1044_407_136_R->Q 662 chr11:5701281:G:A 1044_127_43_H->Y 663 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000109861_ENST00000227266 gene_Name: CATC_HUMAN 663 list of pdbs: 663 3PDF pdb_description: 26-Oct-11 X-ray 1.850 Discovery of novel cyanamide-based inhibitors of cathepsin c 663 2DJG pdb_description: 14-Nov-06 X-ray 2.050 Re-determination of the native structure of human dipeptidyl i (cathepsin c) 663 2DJF pdb_description: 14-Nov-06 X-ray 2.000 Crystal structure of human dipeptidyl peptidase i (cathepsin complex with the inhibitor gly-phe-chn2 663 1K3B pdb_description: 02-Apr-02 X-ray 2.150 Crystal structure of human dipeptidyl peptidase i (cathepsin exclusion domain added to an endopeptidase framework create machine for activation of granular serine proteases 663 Zimmer Variants: 663 chr11:88045583:A:G 1392_458_153_I->T;GENE=CTSC;CDSS=1 663 HGMD Variants: 663 chr11:88027280:C:T 1392_1286_429_W->* 663 chr11:88027297:C:T 1392_1269_423_W->* 663 chr11:88027435:A:C 1392_1131_377_Y->* 663 chr11:88027654:G:T 1392_912_304_Y->* 663 chr11:88029334:G:A 1392_856_286_Q->* 663 chr11:88033707:G:A 1392_748_250_R->* 663 chr11:88033751:C:T 1392_704_235_W->* 663 chr11:88042344:G:A 1392_628_210_R->* 663 chr11:88042417:C:T 1392_555_185_W->* 663 chr11:88042468:G:C 1392_504_168_Y->* 663 chr11:88045719:T:A 1392_322_108_K->* 663 chr11:88068218:G:A 1392_205_69_Q->* 663 chr11:88070696:G:A 1392_145_49_Q->* 663 chr11:88070745:A:C 1392_96_32_Y->* 663 chr11:88070751:G:T 1392_90_30_C->* 663 chr11:88070769:G:T 1392_72_24_C->* 663 chr11:88027209:T:C 1392_1357_453_I->V 663 chr11:88027226:T:C 1392_1340_447_E->G 663 chr11:88027279:C:G 1392_1287_429_W->C 663 chr11:88027298:C:G 1392_1268_423_W->S 663 chr11:88027331:T:C 1392_1235_412_Y->C 663 chr11:88027352:T:C 1392_1214_405_H->R 663 chr11:88027353:G:T 1392_1213_405_H->N 663 chr11:88027410:C:G 1392_1156_386_G->R 663 chr11:88027526:T:C 1392_1040_347_Y->C 663 chr11:88027547:T:C 1392_1019_340_Y->C 663 chr11:88027551:G:A 1392_1015_339_R->C 663 chr11:88027610:T:C 1392_956_319_E->G 663 chr11:88027619:A:C 1392_947_316_L->R 663 chr11:88027631:T:C 1392_935_312_Q->R 663 chr11:88027643:C:T 1392_923_308_G->E 663 chr11:88027656:A:T 1392_910_304_Y->N 663 chr11:88027664:C:A 1392_902_301_G->V 663 chr11:88027665:C:T 1392_901_301_G->S 663 chr11:88027667:C:T 1392_899_300_G->D 663 chr11:88027668:C:T 1392_898_300_G->S 663 chr11:88027676:C:A 1392_890_297_G->V 663 chr11:88029310:A:G 1392_880_294_Y->H 663 chr11:88029318:C:T 1392_872_291_C->Y 663 chr11:88029333:T:C 1392_857_286_Q->R 663 chr11:88029336:G:A 1392_854_285_P->L 663 chr11:88029339:C:T 1392_851_284_S->N 663 chr11:88029366:G:A 1392_824_275_T->I 663 chr11:88029375:C:G 1392_815_272_R->P 663 chr11:88029375:C:T 1392_815_272_R->H 663 chr11:88029412:A:G 1392_778_260_S->P 663 chr11:88029416:G:C 1392_774_258_C->W 663 chr11:88033698:C:T 1392_757_253_A->T 663 chr11:88033700:T:A 1392_755_252_Q->L 663 chr11:88033710:C:A 1392_745_249_V->F 663 chr11:88033716:T:G 1392_739_247_S->R 663 chr11:88033749:C:A 1392_706_236_D->Y 663 chr11:88042385:A:G 1392_587_196_L->P 663 chr11:88042469:T:C 1392_503_168_Y->C 663 chr11:88045583:A:G 1392_458_153_I->T 663 chr11:88045626:C:T 1392_415_139_G->R 663 chr11:88045647:G:C 1392_394_132_R->G 663 chr11:88045655:A:T 1392_386_129_V->E 663 chr11:88045661:T:G 1392_380_127_H->P 663 chr11:88068220:A:C 1392_203_68_L->R 663 chr11:88070725:C:G 1392_116_39_W->S 663 chr11:88070839:A:G 1392_2_1_M->T 663 oneKG Variants: 663 chr11:88027227:C:A 1392_1339_447_E->* 0.000199681 663 chr11:88027209:T:C 1392_1357_453_I->V 0.0838658 663 chr11:88027247:C:T 1392_1319_440_R->Q 0.000199681 663 chr11:88027277:C:T 1392_1289_430_G->D 0.000199681 663 chr11:88027335:C:G 1392_1231_411_G->R 0.000199681 663 chr11:88027352:T:C 1392_1214_405_H->R 0.000199681 663 chr11:88027355:T:C 1392_1211_404_N->S 0.000199681 663 chr11:88027407:T:A 1392_1159_387_I->F 0.000199681 663 chr11:88027550:C:T 1392_1016_339_R->H 0.000199681 663 chr11:88027563:C:G 1392_1003_335_E->Q 0.000199681 663 chr11:88027647:C:A 1392_919_307_A->S 0.000199681 663 chr11:88029416:G:C 1392_774_258_C->W 0.000199681 663 chr11:88042407:T:C 1392_565_189_T->A 0.000399361 663 chr11:88045583:A:G 1392_458_153_I->T 0.069089 663 chr11:88045646:C:T 1392_395_132_R->Q 0.000199681 663 chr11:88045650:C:T 1392_391_131_G->S 0.000199681 663 chr11:88045685:T:C 1392_356_119_N->S 0.000199681 663 chr11:88045697:G:A 1392_344_115_T->I 0.000199681 663 chr11:88068127:T:A 1392_296_99_Y->F 0.000199681 663 chr11:88068196:T:C 1392_227_76_D->G 0.000199681 663 chr11:88070701:C:A 1392_140_47_G->V 0.000199681 663 chr11:88070777:C:A 1392_64_22_V->L 0.000199681 663 chr11:88070779:G:A 1392_62_21_A->V 0.000399361 663 na12878 Variants: 663 chr11:88045583:A:G 1392_458_153_I->T 663 snyder Variants: 663 chr11:88045583:A:G 1392_458_153_I->T 664 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000165409_ENST00000342443 gene_Name: TSHR_HUMAN 664 list of pdbs: 664 3G04 pdb_description: 04-Aug-09 X-ray 2.550 Crystal structure of the tsh receptor in complex with a thyr stimulating autoantibody 664 2XWT pdb_description: 09-Mar-11 X-ray 1.900 Crystal structure of the tsh receptor in complex with a blocking type tshr autoantibody 664 1XUM pdb_description: 15-May-97 Theoret model Theoretical model of the ligand-binding region of a glycoprotein hormone receptor 664 Zimmer Variants: 664 chr14:81575005:C:A 762_742_248_R->S 664 HGMD Variants: 664 chr14:81422117:C:A 762_93_31_C->* 664 chr14:81422103:C:A 762_79_27_P->T 664 chr14:81422124:G:A 762_100_34_E->K 664 chr14:81422146:G:C 762_122_41_C->S 664 chr14:81422161:G:C 762_137_46_R->P 664 chr14:81422178:C:A 762_154_52_P->T 664 chr14:81528523:C:T 762_202_68_P->S 664 chr14:81534624:A:C 762_269_90_Q->P 664 chr14:81554306:G:A 762_326_109_R->Q 664 chr14:81557414:G:C 762_394_132_G->R 664 chr14:81557454:C:T 762_434_145_T->I 664 chr14:81558891:C:G 762_484_162_P->A 664 chr14:81558892:C:T 762_485_162_P->L 664 chr14:81558907:T:A 762_500_167_I->N 664 chr14:81562985:A:G 762_548_183_K->R 664 chr14:81563048:C:T 762_611_204_A->V 664 oneKG Variants: 664 chr14:81422089:T:C 762_65_22_M->T 0.000199681 664 chr14:81422104:C:T 762_80_27_P->L 0.000199681 664 chr14:81422124:G:A 762_100_34_E->K 0.000199681 664 chr14:81422130:G:C 762_106_36_D->H 0.00139776 664 chr14:81422178:C:A 762_154_52_P->T 0.0617013 664 chr14:81528523:C:T 762_202_68_P->S 0.000399361 664 chr14:81534602:G:A 762_247_83_V->I 0.000199681 664 chr14:81554306:G:A 762_326_109_R->Q 0.000199681 664 chr14:81557483:A:T 762_463_155_I->L 0.000798722 664 chr14:81558891:C:G 762_484_162_P->A 0.000399361 664 chr14:81563035:A:G 762_598_200_T->A 0.000199681 664 chr14:81574763:C:T 762_659_220_A->V 0.000199681 664 chr14:81575005:C:A 762_742_248_R->S 0.389776 664 chr14:81575012:G:A 762_749_250_S->N 0.000399361 664 na12878 Variants: 664 chr14:81575005:C:A 762_742_248_R->S 664 snyder Variants: 664 chr14:81422130:G:C 762_106_36_D->H 664 chr14:81575005:C:A 762_742_248_R->S 665 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000165409_ENST00000554435 gene_Name: TSHR_HUMAN 665 list of pdbs: 665 3G04 pdb_description: 04-Aug-09 X-ray 2.550 Crystal structure of the tsh receptor in complex with a thyr stimulating autoantibody 665 2XWT pdb_description: 09-Mar-11 X-ray 1.900 Crystal structure of the tsh receptor in complex with a blocking type tshr autoantibody 665 1XUM pdb_description: 15-May-97 Theoret model Theoretical model of the ligand-binding region of a glycoprotein hormone receptor 665 Zimmer Variants: 665 chr14:81575005:C:A 825_805_269_R->S;GENE=TSHR;CANG=[DNA_repair][cancer];CDSS=1 665 HGMD Variants: 665 chr14:81422117:C:A 825_93_31_C->* 665 chr14:81422103:C:A 825_79_27_P->T 665 chr14:81422124:G:A 825_100_34_E->K 665 chr14:81422146:G:C 825_122_41_C->S 665 chr14:81422161:G:C 825_137_46_R->P 665 chr14:81422178:C:A 825_154_52_P->T 665 chr14:81528523:C:T 825_202_68_P->S 665 chr14:81534624:A:C 825_269_90_Q->P 665 chr14:81554306:G:A 825_326_109_R->Q 665 chr14:81557414:G:C 825_394_132_G->R 665 chr14:81557454:C:T 825_434_145_T->I 665 chr14:81558891:C:G 825_484_162_P->A 665 chr14:81558892:C:T 825_485_162_P->L 665 chr14:81558907:T:A 825_500_167_I->N 665 chr14:81562985:A:G 825_548_183_K->R 665 chr14:81563048:C:T 825_611_204_A->V 665 oneKG Variants: 665 chr14:81422089:T:C 825_65_22_M->T 0.000199681 665 chr14:81422104:C:T 825_80_27_P->L 0.000199681 665 chr14:81422124:G:A 825_100_34_E->K 0.000199681 665 chr14:81422130:G:C 825_106_36_D->H 0.00139776 665 chr14:81422178:C:A 825_154_52_P->T 0.0617013 665 chr14:81528523:C:T 825_202_68_P->S 0.000399361 665 chr14:81534602:G:A 825_247_83_V->I 0.000199681 665 chr14:81554306:G:A 825_326_109_R->Q 0.000199681 665 chr14:81557483:A:T 825_463_155_I->L 0.000798722 665 chr14:81558891:C:G 825_484_162_P->A 0.000399361 665 chr14:81563035:A:G 825_598_200_T->A 0.000199681 665 chr14:81574763:C:T 825_659_220_A->V 0.000199681 665 chr14:81574952:A:T 825_752_251_Y->F 0.000599042 665 chr14:81575005:C:A 825_805_269_R->S 0.389776 665 chr14:81575012:G:A 825_812_271_S->N 0.000399361 665 na12878 Variants: 665 chr14:81575005:C:A 825_805_269_R->S 665 snyder Variants: 665 chr14:81422130:G:C 825_106_36_D->H 665 chr14:81575005:C:A 825_805_269_R->S 666 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000197696_ENST00000360476 gene_Name: NMB_HUMAN 666 list of pdbs: 666 1C9A pdb_description: 11-Nov-99 NMR 20 Solution structure of neuromedin b 666 1C98 pdb_description: 11-Aug-99 NMR 20 Solution structure of neuromedin b 666 Zimmer Variants: 666 chr15:85200520:G:T 366_217_73_P->T;GENE=NMB;CDSS=1 666 HGMD Variants: 666 chr15:85200520:G:T 366_217_73_P->T 666 oneKG Variants: 666 chr15:85200421:C:T 366_316_106_A->T 0.000798722 666 chr15:85200463:G:C 366_274_92_L->V 0.000199681 666 chr15:85200520:G:T 366_217_73_P->T 0.138379 666 chr15:85200551:C:G 366_186_62_E->D 0.000199681 666 chr15:85201307:G:T 366_77_26_P->Q 0.000199681 666 chr15:85201314:C:T 366_70_24_V->I 0.000399361 666 chr15:85201341:G:T 366_43_15_L->M 0.000199681 666 chr15:85201365:C:T 366_19_7_G->S 0.000199681 666 chr15:85201368:C:G 366_16_6_G->R 0.00179712 666 chr15:85201377:G:A 366_7_3_R->W 0.000199681 666 na12878 Variants: 666 chr15:85200520:G:T 366_217_73_P->T 666 snyder Variants: 666 chr15:85200520:G:T 366_217_73_P->T 667 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000197696_ENST00000394588 gene_Name: NMB_HUMAN 667 list of pdbs: 667 1C9A pdb_description: 11-Nov-99 NMR 20 Solution structure of neuromedin b 667 1C98 pdb_description: 11-Aug-99 NMR 20 Solution structure of neuromedin b 667 Zimmer Variants: 667 chr15:85200520:G:T 465_217_73_P->T 667 HGMD Variants: 667 chr15:85198606:C:T 465_360_120_M->I,1 667 chr15:85200520:G:T 465_217_73_P->T 667 oneKG Variants: 667 chr15:85198599:T:C 465_367_123_I->V 0.000599042 667 chr15:85198606:C:T 465_360_120_M->I,1 0.058107 667 chr15:85198634:T:G 465_332_111_E->A,1 0.000199681 667 chr15:85200421:C:T 465_316_106_A->T 0.000798722 667 chr15:85200463:G:C 465_274_92_L->V 0.000199681 667 chr15:85200520:G:T 465_217_73_P->T 0.138379 667 chr15:85200551:C:G 465_186_62_E->D 0.000199681 667 chr15:85201307:G:T 465_77_26_P->Q 0.000199681 667 chr15:85201314:C:T 465_70_24_V->I 0.000399361 667 chr15:85201341:G:T 465_43_15_L->M 0.000199681 667 chr15:85201365:C:T 465_19_7_G->S 0.000199681 667 chr15:85201368:C:G 465_16_6_G->R 0.00179712 667 chr15:85201377:G:A 465_7_3_R->W 0.000199681 667 na12878 Variants: 667 chr15:85198606:C:T 465_360_120_M->I,1 667 chr15:85200520:G:T 465_217_73_P->T 667 snyder Variants: 667 chr15:85200520:G:T 465_217_73_P->T 668 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000103313_ENST00000219596 gene_Name: MEFV_HUMAN 668 list of pdbs: 668 2WL1 pdb_description: 20-Oct-09 X-ray 1.350 Pyrin pryspry domain 668 Zimmer Variants: 668 chr16:3293310:A:G 2346_2177_726_V->A 668 HGMD Variants: 668 chr16:3293423:G:C 2346_2064_688_Y->* 668 chr16:3297190:G:T 2346_1413_471_Y->* 668 chr16:3293149:G:T 2346_2338_780_P->T 668 chr16:3293173:T:C 2346_2314_772_I->V 668 chr16:3293182:G:C 2346_2305_769_P->A 668 chr16:3293205:C:T 2346_2282_761_R->H 668 chr16:3293206:G:T 2346_2281_761_R->S 668 chr16:3293215:G:A 2346_2272_758_P->S 668 chr16:3293241:G:C 2346_2246_749_S->C 668 chr16:3293257:C:A 2346_2230_744_A->S 668 chr16:3293258:G:C 2346_2229_743_F->L 668 chr16:3293310:A:G 2346_2177_726_V->A 668 chr16:3293323:C:T 2346_2164_722_V->M 668 chr16:3293327:G:C 2346_2160_720_I->M 668 chr16:3293337:C:A 2346_2150_717_R->L 668 chr16:3293337:C:T 2346_2150_717_R->H 668 chr16:3293338:G:T 2346_2149_717_R->S 668 chr16:3293340:T:A 2346_2147_716_K->M 668 chr16:3293361:A:C 2346_2126_709_L->R 668 chr16:3293374:G:A 2346_2113_705_P->S 668 chr16:3293377:C:T 2346_2110_704_V->I 668 chr16:3293382:G:C 2346_2105_702_S->C 668 chr16:3293402:C:G 2346_2085_695_K->N 668 chr16:3293403:T:C 2346_2084_695_K->R 668 chr16:3293403:T:A 2346_2084_695_K->M 668 chr16:3293405:C:T 2346_2082_694_M->I 668 chr16:3293406:A:T 2346_2081_694_M->K 668 chr16:3293407:T:A 2346_2080_694_M->L 668 chr16:3293407:T:C 2346_2080_694_M->V 668 chr16:3293424:T:C 2346_2063_688_Y->C 668 chr16:3293427:C:T 2346_2060_687_G->D 668 chr16:3293445:G:A 2346_2042_681_T->I 668 chr16:3293447:C:T 2346_2040_680_M->I 668 chr16:3293447:C:G 2346_2040_680_M->I 668 chr16:3293449:T:G 2346_2038_680_M->L 668 chr16:3293454:C:T 2346_2033_678_G->E 668 chr16:3293463:C:T 2346_2024_675_S->N 668 chr16:3293491:T:C 2346_1996_666_I->V 668 chr16:3293506:C:T 2346_1981_661_D->N 668 chr16:3293520:T:G 2346_1967_656_E->A 668 chr16:3293529:C:T 2346_1958_653_R->H 668 chr16:3293538:G:T 2346_1949_650_S->Y 668 chr16:3293541:A:G 2346_1946_649_L->P 668 chr16:3293550:G:A 2346_1937_646_P->L 668 chr16:3293566:T:A 2346_1921_641_I->F 668 chr16:3293567:G:C 2346_1920_640_I->M 668 chr16:3293577:T:C 2346_1910_637_D->G 668 chr16:3293592:C:G 2346_1895_632_G->A 668 chr16:3293593:C:T 2346_1894_632_G->S 668 chr16:3293598:G:A 2346_1889_630_P->L 668 chr16:3293633:C:G 2346_1854_618_K->N 668 chr16:3293646:G:A 2346_1841_614_S->F 668 chr16:3293868:G:A 2346_1784_595_A->V 668 chr16:3293879:A:C 2346_1773_591_I->M 668 chr16:3293880:A:G 2346_1772_591_I->T 668 chr16:3294269:T:G 2346_1744_582_M->L 668 chr16:3294283:G:T 2346_1730_577_T->N 668 chr16:3294283:G:C 2346_1730_577_T->S 668 chr16:3294284:T:C 2346_1729_577_T->A 668 chr16:3294284:T:A 2346_1729_577_T->S 668 chr16:3294524:G:A 2346_1675_559_L->F 668 chr16:3297062:C:T 2346_1541_514_G->E 668 chr16:3297071:G:A 2346_1532_511_A->V 668 chr16:3297087:T:C 2346_1516_506_I->V 668 chr16:3297095:G:C 2346_1508_503_S->C 668 chr16:3297102:G:C 2346_1501_501_R->G 668 chr16:3297140:C:T 2346_1463_488_G->D 668 chr16:3297144:C:T 2346_1459_487_V->M 668 chr16:3297166:G:C 2346_1437_479_F->L 668 chr16:3297171:G:A 2346_1432_478_H->Y 668 chr16:3297183:C:T 2346_1420_474_E->K 668 chr16:3297198:C:A 2346_1405_469_V->L 668 chr16:3297233:G:A 2346_1370_457_A->V 668 chr16:3297235:T:G 2346_1368_456_E->D 668 chr16:3298947:G:C 2346_1318_440_Q->E 668 chr16:3298998:T:C 2346_1267_423_I->V 668 chr16:3299468:C:T 2346_1223_408_R->Q 668 chr16:3299576:A:G 2346_1115_372_L->P 668 chr16:3299586:G:A 2346_1105_369_P->S 668 chr16:3299609:C:G 2346_1082_361_R->T 668 chr16:3299631:G:A 2346_1060_354_R->W 668 chr16:3299642:G:C 2346_1049_350_P->R 668 chr16:3299673:C:G 2346_1018_340_G->R 668 chr16:3299675:G:A 2346_1016_339_S->F 668 chr16:3299705:C:T 2346_986_329_R->H 668 chr16:3299736:C:T 2346_955_319_E->K 668 chr16:3299765:G:A 2346_926_309_T->M 668 chr16:3304158:C:T 2346_910_304_G->R 668 chr16:3304158:C:T 2346_910_304_G->R 668 chr16:3304172:T:C 2346_896_299_E->G 668 chr16:3304202:G:T 2346_866_289_A->E 668 chr16:3304202:G:A 2346_866_289_A->V 668 chr16:3304205:G:T 2346_863_288_S->Y 668 chr16:3304220:G:C 2346_848_283_P->R 668 chr16:3304220:G:A 2346_848_283_P->L 668 chr16:3304265:G:A 2346_803_268_A->V 668 chr16:3304268:G:A 2346_800_267_T->I 668 chr16:3304293:T:C 2346_775_259_I->V 668 chr16:3304317:C:T 2346_751_251_E->K 668 chr16:3304329:T:C 2346_739_247_I->V 668 chr16:3304342:G:C 2346_726_242_S->R 668 chr16:3304380:C:T 2346_688_230_E->K 668 chr16:3304380:C:G 2346_688_230_E->Q 668 chr16:3304393:C:G 2346_675_225_E->D 668 chr16:3304394:T:C 2346_674_225_E->G 668 chr16:3304463:C:T 2346_605_202_R->Q 668 chr16:3304479:C:G 2346_589_197_G->R 668 chr16:3304482:C:A 2346_586_196_G->W 668 chr16:3304529:G:C 2346_539_180_P->R 668 chr16:3304532:C:A 2346_536_179_S->I 668 chr16:3304532:C:T 2346_536_179_S->N 668 chr16:3304538:G:A 2346_530_177_T->I 668 chr16:3304544:G:T 2346_524_175_P->H 668 chr16:3304567:C:G 2346_501_167_E->D 668 chr16:3304580:T:G 2346_488_163_E->A 668 chr16:3304615:C:G 2346_453_151_R->S 668 chr16:3304625:T:A 2346_443_148_E->V 668 chr16:3304626:C:G 2346_442_148_E->Q 668 chr16:3304640:C:G 2346_428_143_R->P 668 chr16:3304646:C:A 2346_422_141_S->I 668 chr16:3304655:C:G 2346_413_138_G->A 668 chr16:3304661:C:T 2346_407_136_G->E 668 chr16:3304685:T:A 2346_383_128_E->V 668 chr16:3304739:A:G 2346_329_110_L->P 668 chr16:3304746:T:G 2346_322_108_S->R 668 chr16:3304754:G:T 2346_314_105_A->E 668 chr16:3306323:C:T 2346_265_89_A->T 668 chr16:3306338:C:T 2346_250_84_E->K 668 chr16:3306464:G:A 2346_124_42_R->W 668 oneKG Variants: 668 chr16:3293224:T:C 2346_2263_755_I->V 0.000399361 668 chr16:3293257:C:A 2346_2230_744_A->S 0.00179712 668 chr16:3293262:G:C 2346_2225_742_T->R 0.000199681 668 chr16:3293277:C:A 2346_2210_737_R->I 0.000199681 668 chr16:3293310:A:G 2346_2177_726_V->A 0.000199681 668 chr16:3293364:C:T 2346_2123_708_R->H 0.000199681 668 chr16:3293370:G:A 2346_2117_706_P->L 0.000199681 668 chr16:3293403:T:C 2346_2084_695_K->R 0.00179712 668 chr16:3293407:T:C 2346_2080_694_M->V 0.000199681 668 chr16:3293422:A:G 2346_2065_689_W->R 0.000199681 668 chr16:3293439:G:A 2346_2048_683_S->L 0.000199681 668 chr16:3293529:C:T 2346_1958_653_R->H 0.000199681 668 chr16:3293563:C:G 2346_1924_642_V->L 0.000199681 668 chr16:3293567:G:C 2346_1920_640_I->M 0.000199681 668 chr16:3293692:T:C 2346_1795_599_N->D 0.000798722 668 chr16:3293879:A:C 2346_1773_591_I->M 0.000199681 668 chr16:3293880:A:G 2346_1772_591_I->T 0.00439297 668 chr16:3294277:C:T 2346_1736_579_R->H 0.000399361 668 chr16:3294503:A:G 2346_1696_566_F->L 0.000399361 668 chr16:3294556:G:C 2346_1643_548_T->S 0.000199681 668 chr16:3297033:C:G 2346_1570_524_E->Q 0.000199681 668 chr16:3297040:G:C 2346_1563_521_C->W 0.000199681 668 chr16:3297081:G:C 2346_1522_508_L->V 0.000798722 668 chr16:3297095:G:C 2346_1508_503_S->C 0.000599042 668 chr16:3297099:C:T 2346_1504_502_V->I 0.000399361 668 chr16:3297144:C:G 2346_1459_487_V->L 0.000998403 668 chr16:3297183:C:T 2346_1420_474_E->K 0.000199681 668 chr16:3297221:C:T 2346_1382_461_R->Q 0.00139776 668 chr16:3298947:G:C 2346_1318_440_Q->E 0.0071885 668 chr16:3298986:G:T 2346_1279_427_L->M 0.000199681 668 chr16:3299468:C:T 2346_1223_408_R->Q 0.0171725 668 chr16:3299586:G:A 2346_1105_369_P->S 0.0201677 668 chr16:3299609:C:G 2346_1082_361_R->T 0.000798722 668 chr16:3299615:T:C 2346_1076_359_H->R 0.000199681 668 chr16:3299648:C:T 2346_1043_348_R->H 0.000199681 668 chr16:3299657:G:A 2346_1034_345_S->L 0.000199681 668 chr16:3299675:G:A 2346_1016_339_S->F 0.000199681 668 chr16:3299691:A:G 2346_1000_334_F->L 0.000199681 668 chr16:3299705:C:T 2346_986_329_R->H 0.00159744 668 chr16:3299718:C:T 2346_973_325_G->S 0.000599042 668 chr16:3299759:G:A 2346_932_311_A->V 0.000798722 668 chr16:3304158:C:T 2346_910_304_G->R 0.00738818 668 chr16:3304268:G:A 2346_800_267_T->I 0.000199681 668 chr16:3304298:G:A 2346_770_257_P->L 0.000199681 668 chr16:3304305:C:T 2346_763_255_A->T 0.000199681 668 chr16:3304342:G:C 2346_726_242_S->R 0.000199681 668 chr16:3304368:G:A 2346_700_234_P->S 0.000199681 668 chr16:3304380:C:T 2346_688_230_E->K 0.00139776 668 chr16:3304407:G:A 2346_661_221_P->S 0.000199681 668 chr16:3304463:C:T 2346_605_202_R->Q 0.135982 668 chr16:3304481:C:T 2346_587_196_G->E 0.000199681 668 chr16:3304482:C:A 2346_586_196_G->W 0.00559105 668 chr16:3304521:G:T 2346_547_183_P->T 0.000399361 668 chr16:3304532:C:T 2346_536_179_S->N 0.000199681 668 chr16:3304613:C:T 2346_455_152_G->E 0.000399361 668 chr16:3304615:C:G 2346_453_151_R->S 0.000798722 668 chr16:3304626:C:G 2346_442_148_E->Q 0.126398 668 chr16:3304652:G:T 2346_416_139_A->D 0.000399361 668 chr16:3304724:G:C 2346_344_115_P->R 0.000199681 668 chr16:3304725:G:T 2346_343_115_P->T 0.000399361 668 chr16:3304739:A:G 2346_329_110_L->P 0.0117812 668 chr16:3306338:C:T 2346_250_84_E->K 0.000599042 668 chr16:3306343:A:G 2346_245_82_L->P 0.000199681 668 chr16:3306349:C:T 2346_239_80_R->H 0.000199681 668 chr16:3306464:G:A 2346_124_42_R->W 0.00199681 668 chr16:3306491:C:A 2346_97_33_V->L 0.00179712 668 chr16:3306536:G:T 2346_52_18_P->T 0.000199681 668 chr16:3306551:G:C 2346_37_13_L->V 0.000199681 668 chr16:3306553:G:A 2346_35_12_T->I 0.000199681 668 na12878 Variants: 668 chr16:3304626:C:G 2346_442_148_E->Q 668 snyder Variants: 668 chr16:3304463:C:T 2346_605_202_R->Q 669 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180448_ENST00000539243 gene_Name: HMHA1_HUMAN 669 list of pdbs: 669 3D25 pdb_description: 10-Feb-09 X-ray 1.300 Crystal structure of ha-1 minor histocompatibility antigen bound to human class i mhc hla-a2 669 Zimmer Variants: 669 chr19:1074000:A:T 3459_825_275_E->D 669 HGMD Variants: 669 chr19:1068738:G:A 3459_464_155_R->H 669 chr19:1079991:T:C 3459_1625_542_M->T 669 oneKG Variants: 669 chr19:1066067:G:A 3459_43_15_V->I 0.000199681 669 chr19:1066148:C:T 3459_124_42_P->S 0.000399361 669 chr19:1068448:C:G 3459_174_58_F->L 0.000199681 669 chr19:1068485:G:A 3459_211_71_G->S 0.000199681 669 chr19:1068593:C:T 3459_319_107_H->Y 0.00259585 669 chr19:1068596:C:T 3459_322_108_R->W 0.000199681 669 chr19:1068611:G:A 3459_337_113_A->T 0.000199681 669 chr19:1068626:G:C 3459_352_118_E->Q 0.000199681 669 chr19:1068656:G:A 3459_382_128_V->I 0.000199681 669 chr19:1068674:C:T 3459_400_134_H->Y 0.000199681 669 chr19:1068738:G:A 3459_464_155_R->H 0.404752 669 chr19:1073216:A:G 3459_538_180_I->V 0.000199681 669 chr19:1073538:A:G 3459_647_216_K->R 0.000399361 669 chr19:1073565:C:T 3459_674_225_T->M 0.000599042 669 chr19:1074000:A:T 3459_825_275_E->D 0.223442 669 chr19:1074010:G:A 3459_835_279_A->T 0.000599042 669 chr19:1074646:G:A 3459_1075_359_A->T 0.000199681 669 chr19:1074647:C:A 3459_1076_359_A->D 0.000199681 669 chr19:1077944:A:G 3459_1322_441_K->R 0.0 669 chr19:1077947:C:T 3459_1325_442_A->V 0.0139776 669 chr19:1077970:G:A 3459_1348_450_A->T 0.000199681 669 chr19:1077985:A:G 3459_1363_455_S->G 0.466653 669 chr19:1079762:G:C 3459_1483_495_E->Q 0.000199681 669 chr19:1079829:C:T 3459_1550_517_T->I 0.00179712 669 chr19:1079959:G:A 3459_1593_531_M->I 0.0291534 669 chr19:1080111:A:G 3459_1745_582_N->S 0.000199681 669 chr19:1080258:C:A 3459_1756_586_P->T 0.000199681 669 chr19:1080348:A:T 3459_1846_616_T->S 0.000199681 669 chr19:1080531:C:G 3459_1945_649_P->A 0.000199681 669 chr19:1080537:C:T 3459_1951_651_P->S 0.000399361 669 chr19:1080681:G:A 3459_1961_654_G->E 0.00259585 669 chr19:1080739:G:C 3459_2019_673_E->D 0.000599042 669 chr19:1080743:G:C 3459_2023_675_V->L 0.000199681 669 chr19:1080755:G:A 3459_2035_679_G->S 0.000199681 669 chr19:1080896:C:A 3459_2071_691_L->I 0.000399361 669 chr19:1080902:G:A 3459_2077_693_G->S 0.000199681 669 chr19:1081559:C:T 3459_2249_750_A->V 0.000199681 669 chr19:1081592:T:A 3459_2282_761_I->K 0.000199681 669 chr19:1081839:A:G 3459_2444_815_N->S 0.000199681 669 chr19:1082842:C:T 3459_2569_857_P->S 0.000199681 669 chr19:1082864:G:A 3459_2591_864_R->H 0.000199681 669 chr19:1082866:C:T 3459_2593_865_L->F 0.000199681 669 chr19:1082909:C:A 3459_2636_879_A->E 0.000199681 669 chr19:1082977:G:C 3459_2704_902_A->P 0.00319489 669 chr19:1083028:C:T 3459_2755_919_R->W 0.000199681 669 chr19:1083330:C:T 3459_2981_994_P->L 0.000399361 669 chr19:1084321:G:C 3459_3088_1030_E->Q 0.00219649 669 chr19:1084336:G:A 3459_3103_1035_G->R 0.00279553 669 chr19:1085665:G:A 3459_3119_1040_R->Q 0.000798722 669 chr19:1085709:G:A 3459_3163_1055_E->K 0.000599042 669 chr19:1085736:G:A 3459_3190_1064_A->T 0.000599042 669 chr19:1085752:G:A 3459_3206_1069_S->N 0.000399361 669 chr19:1085811:G:A 3459_3265_1089_G->S 0.000399361 669 chr19:1085863:A:G 3459_3317_1106_E->G 0.0229633 669 chr19:1085868:G:A 3459_3322_1108_G->S 0.00119808 669 chr19:1085910:A:G 3459_3364_1122_N->D 0.000199681 669 chr19:1085912:C:A 3459_3366_1122_N->K 0.000798722 669 chr19:1085929:C:T 3459_3383_1128_P->L 0.000199681 669 chr19:1085949:C:T 3459_3403_1135_R->C 0.000399361 669 chr19:1085964:A:C 3459_3418_1140_T->P 0.00239617 669 chr19:1085965:C:T 3459_3419_1140_T->I 0.00139776 669 chr19:1086000:G:A 3459_3454_1152_V->M 0.000199681 669 na12878 Variants: 669 chr19:1079959:G:A 3459_1593_531_M->I 669 chr19:1074000:A:T 3459_825_275_E->D 669 snyder Variants: 669 chr19:1068738:G:A 3459_464_155_R->H 669 chr19:1074000:A:T 3459_825_275_E->D 669 chr19:1077985:A:G 3459_1363_455_S->G 670 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180448_ENST00000313093 gene_Name: HMHA1_HUMAN 670 list of pdbs: 670 3D25 pdb_description: 10-Feb-09 X-ray 1.300 Crystal structure of ha-1 minor histocompatibility antigen bound to human class i mhc hla-a2 670 Zimmer Variants: 670 chr19:1074000:A:T 3411_777_259_E->D 670 HGMD Variants: 670 chr19:1068738:G:A 3411_416_139_R->H 670 chr19:1079991:T:C 3411_1577_526_M->T 670 oneKG Variants: 670 chr19:1067492:G:C 3411_88_30_G->R 0.000199681 670 chr19:1068448:C:G 3411_126_42_F->L 0.000199681 670 chr19:1068485:G:A 3411_163_55_G->S 0.000199681 670 chr19:1068593:C:T 3411_271_91_H->Y 0.00259585 670 chr19:1068596:C:T 3411_274_92_R->W 0.000199681 670 chr19:1068611:G:A 3411_289_97_A->T 0.000199681 670 chr19:1068626:G:C 3411_304_102_E->Q 0.000199681 670 chr19:1068656:G:A 3411_334_112_V->I 0.000199681 670 chr19:1068674:C:T 3411_352_118_H->Y 0.000199681 670 chr19:1068738:G:A 3411_416_139_R->H 0.404752 670 chr19:1073216:A:G 3411_490_164_I->V 0.000199681 670 chr19:1073538:A:G 3411_599_200_K->R 0.000399361 670 chr19:1073565:C:T 3411_626_209_T->M 0.000599042 670 chr19:1074000:A:T 3411_777_259_E->D 0.223442 670 chr19:1074010:G:A 3411_787_263_A->T 0.000599042 670 chr19:1074646:G:A 3411_1027_343_A->T 0.000199681 670 chr19:1074647:C:A 3411_1028_343_A->D 0.000199681 670 chr19:1077944:A:G 3411_1274_425_K->R 0.0 670 chr19:1077947:C:T 3411_1277_426_A->V 0.0139776 670 chr19:1077970:G:A 3411_1300_434_A->T 0.000199681 670 chr19:1077985:A:G 3411_1315_439_S->G 0.466653 670 chr19:1079762:G:C 3411_1435_479_E->Q 0.000199681 670 chr19:1079829:C:T 3411_1502_501_T->I 0.00179712 670 chr19:1079959:G:A 3411_1545_515_M->I 0.0291534 670 chr19:1080111:A:G 3411_1697_566_N->S 0.000199681 670 chr19:1080258:C:A 3411_1708_570_P->T 0.000199681 670 chr19:1080348:A:T 3411_1798_600_T->S 0.000199681 670 chr19:1080531:C:G 3411_1897_633_P->A 0.000199681 670 chr19:1080537:C:T 3411_1903_635_P->S 0.000399361 670 chr19:1080681:G:A 3411_1913_638_G->E 0.00259585 670 chr19:1080739:G:C 3411_1971_657_E->D 0.000599042 670 chr19:1080743:G:C 3411_1975_659_V->L 0.000199681 670 chr19:1080755:G:A 3411_1987_663_G->S 0.000199681 670 chr19:1080896:C:A 3411_2023_675_L->I 0.000399361 670 chr19:1080902:G:A 3411_2029_677_G->S 0.000199681 670 chr19:1081559:C:T 3411_2201_734_A->V 0.000199681 670 chr19:1081592:T:A 3411_2234_745_I->K 0.000199681 670 chr19:1081839:A:G 3411_2396_799_N->S 0.000199681 670 chr19:1082842:C:T 3411_2521_841_P->S 0.000199681 670 chr19:1082864:G:A 3411_2543_848_R->H 0.000199681 670 chr19:1082866:C:T 3411_2545_849_L->F 0.000199681 670 chr19:1082909:C:A 3411_2588_863_A->E 0.000199681 670 chr19:1082977:G:C 3411_2656_886_A->P 0.00319489 670 chr19:1083028:C:T 3411_2707_903_R->W 0.000199681 670 chr19:1083330:C:T 3411_2933_978_P->L 0.000399361 670 chr19:1084321:G:C 3411_3040_1014_E->Q 0.00219649 670 chr19:1084336:G:A 3411_3055_1019_G->R 0.00279553 670 chr19:1085665:G:A 3411_3071_1024_R->Q 0.000798722 670 chr19:1085709:G:A 3411_3115_1039_E->K 0.000599042 670 chr19:1085736:G:A 3411_3142_1048_A->T 0.000599042 670 chr19:1085752:G:A 3411_3158_1053_S->N 0.000399361 670 chr19:1085811:G:A 3411_3217_1073_G->S 0.000399361 670 chr19:1085863:A:G 3411_3269_1090_E->G 0.0229633 670 chr19:1085868:G:A 3411_3274_1092_G->S 0.00119808 670 chr19:1085910:A:G 3411_3316_1106_N->D 0.000199681 670 chr19:1085912:C:A 3411_3318_1106_N->K 0.000798722 670 chr19:1085929:C:T 3411_3335_1112_P->L 0.000199681 670 chr19:1085949:C:T 3411_3355_1119_R->C 0.000399361 670 chr19:1085964:A:C 3411_3370_1124_T->P 0.00239617 670 chr19:1085965:C:T 3411_3371_1124_T->I 0.00139776 670 chr19:1086000:G:A 3411_3406_1136_V->M 0.000199681 670 na12878 Variants: 670 chr19:1079959:G:A 3411_1545_515_M->I 670 chr19:1074000:A:T 3411_777_259_E->D 670 snyder Variants: 670 chr19:1068738:G:A 3411_416_139_R->H 670 chr19:1074000:A:T 3411_777_259_E->D 670 chr19:1077985:A:G 3411_1315_439_S->G 671 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000248099_ENST00000317306 gene_Name: INSL3_HUMAN 671 list of pdbs: 671 2K6U pdb_description: 16-Dec-08 NMR 20 The solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor (rlf) 671 2K6T pdb_description: 16-Dec-08 NMR 20 Solution structure of the relaxin-like factor 671 2H8B pdb_description: 01-Aug-06 NMR 20 Solution structure of insl3 671 Zimmer Variants: 671 chr19:17932138:T:C 396_178_60_T->A 671 HGMD Variants: 671 chr19:17927842:G:A 396_217_73_R->*,1 671 chr19:17927729:G:C 396_330_110_N->K 671 chr19:17927745:C:T 396_314_105_R->H 671 chr19:17927754:C:T 396_305_102_R->H 671 chr19:17927755:G:A 396_304_102_R->C,1 671 chr19:17927781:G:A 396_278_93_P->L 671 chr19:17932264:C:T 396_52_18_V->M 671 oneKG Variants: 671 chr19:17927687:G:C 396_372_124_D->E 0.000798722 671 chr19:17927722:G:A 396_337_113_R->C,1 0.000199681 671 chr19:17927754:C:T 396_305_102_R->H 0.000399361 671 chr19:17927781:G:A 396_278_93_P->L 0.000199681 671 chr19:17927844:C:T 396_215_72_R->K 0.000199681 671 chr19:17927854:A:G 396_205_69_W->R,1 0.000399361 671 chr19:17927868:C:A 396_191_64_R->L 0.000199681 671 chr19:17932138:T:C 396_178_60_T->A 0.313898 671 chr19:17932200:A:C 396_116_39_V->G 0.000199681 671 chr19:17932237:G:A 396_79_27_P->S 0.000199681 671 chr19:17932245:G:C 396_71_24_A->G 0.000199681 671 chr19:17932264:C:T 396_52_18_V->M 0.00379393 671 chr19:17932297:C:A,T 396_19_7_A->S 0.000599042 671 chr19:17932297:C:A,T 396_19_7_A->T 0.000599042 671 na12878 Variants: 671 chr19:17932138:T:C 396_178_60_T->A 671 snyder Variants: 671 chr19:17932138:T:C 396_178_60_T->A 672 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000248099_ENST00000379695 gene_Name: INSL3_HUMAN 672 list of pdbs: 672 2K6U pdb_description: 16-Dec-08 NMR 20 The solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor (rlf) 672 2K6T pdb_description: 16-Dec-08 NMR 20 Solution structure of the relaxin-like factor 672 2H8B pdb_description: 01-Aug-06 NMR 20 Solution structure of insl3 672 Zimmer Variants: 672 chr19:17932138:T:C 474_178_60_T->A;GENE=INSL3;CDSS=1 672 HGMD Variants: 672 chr19:17927729:G:C 474_425_142_T->S 672 chr19:17927745:C:T 474_409_137_V->M 672 chr19:17927754:C:T 474_400_134_A->T 672 chr19:17927781:G:A 474_373_125_P->S 672 chr19:17932264:C:T 474_52_18_V->M 672 oneKG Variants: 672 chr19:17927687:G:C 474_467_156_T->S 0.000798722 672 chr19:17927747:G:A 474_407_136_T->I,1 0.000199681 672 chr19:17927754:C:T 474_400_134_A->T 0.000399361 672 chr19:17927781:G:A 474_373_125_P->S 0.000199681 672 chr19:17927844:C:T 474_310_104_D->N 0.000199681 672 chr19:17927868:C:A 474_286_96_V->L 0.000199681 672 chr19:17932138:T:C 474_178_60_T->A 0.313898 672 chr19:17932200:A:C 474_116_39_V->G 0.000199681 672 chr19:17932237:G:A 474_79_27_P->S 0.000199681 672 chr19:17932245:G:C 474_71_24_A->G 0.000199681 672 chr19:17932264:C:T 474_52_18_V->M 0.00379393 672 chr19:17932297:C:A,T 474_19_7_A->S,2 0.000599042 672 chr19:17932297:C:A,T 474_19_7_A->T 0.000599042 672 na12878 Variants: 672 chr19:17932138:T:C 474_178_60_T->A 672 snyder Variants: 672 chr19:17932138:T:C 474_178_60_T->A 673 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000197110_ENST00000413851 gene_Name: IFNL3_HUMAN 673 list of pdbs: 673 3HHC pdb_description: 21-Jul-09 X-ray 2.800 Interferon-lambda is functionally an interferon but structurally related to the il-10 family 673 Zimmer Variants: 673 chr19:39735106:T:C 591_209_70_K->R;GENE=IFNL3;CDSS=1 673 HGMD Variants: 673 chr19:39735106:T:C 591_209_70_K->R 673 oneKG Variants: 673 chr19:39734325:G:A 591_538_180_R->C 0.0153754 673 chr19:39734328:A:C 591_535_179_F->V 0.000399361 673 chr19:39734337:A:T 591_526_176_F->I 0.000199681 673 chr19:39734352:C:T 591_511_171_E->K 0.00738818 673 chr19:39734486:C:T 591_470_157_R->Q 0.00159744 673 chr19:39734487:G:A 591_469_157_R->W 0.000399361 673 chr19:39734490:G:A 591_466_156_H->Y 0.0141773 673 chr19:39734494:C:G 591_462_154_W->C 0.000199681 673 chr19:39734514:G:A 591_442_148_R->W 0.000199681 673 chr19:39734655:C:T 591_401_134_R->Q 0.000399361 673 chr19:39734656:G:A 591_400_134_R->W 0.000199681 673 chr19:39734659:G:A 591_397_133_L->F 0.000599042 673 chr19:39734668:G:C 591_388_130_L->V 0.000399361 673 chr19:39734673:T:C 591_383_128_H->R 0.000199681 673 chr19:39734709:C:A 591_347_116_G->V 0.000199681 673 chr19:39734734:T:C 591_322_108_T->A 0.00658946 673 chr19:39734754:G:A 591_302_101_T->M 0.00199681 673 chr19:39734773:C:G 591_283_95_E->Q 0.0061901 673 chr19:39734782:C:T 591_274_92_V->M 0.00139776 673 chr19:39735068:T:C 591_247_83_R->G 0.000399361 673 chr19:39735094:C:T 591_221_74_R->H 0.000199681 673 chr19:39735106:T:C 591_209_70_K->R 0.365415 673 chr19:39735127:G:A 591_188_63_S->L 0.000599042 673 chr19:39735444:C:T 591_164_55_R->K 0.000599042 673 chr19:39735516:A:G 591_92_31_L->P 0.000199681 673 chr19:39735517:G:A 591_91_31_L->F 0.00838658 673 chr19:39735523:C:T 591_85_29_G->R 0.00219649 673 chr19:39735525:C:T 591_83_28_R->H 0.000798722 673 chr19:39735526:G:A 591_82_28_R->C 0.000399361 673 chr19:39735528:A:T 591_80_27_L->H 0.000199681 673 chr19:39735529:G:A 591_79_27_L->F 0.00279553 673 chr19:39735535:C:A 591_73_25_A->S 0.00279553 673 chr19:39735549:C:G 591_59_20_G->A 0.0213658 673 chr19:39735601:C:T 591_7_3_G->R 0.000199681 673 na12878 Variants: 673 chr19:39735106:T:C 591_209_70_K->R 673 snyder Variants: 673 chr19:39735106:T:C 591_209_70_K->R 674 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000267680_ENST00000336976 gene_Name: ZN224_HUMAN 674 list of pdbs: 674 2YTH pdb_description: 09-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 479- 511) of human zinc finger protein 224 674 2YSP pdb_description: 09-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 507- 539) of human zinc finger protein 224 674 2EQ4 pdb_description: 02-Oct-07 NMR 20 Solution structure of the 11th c2h2 type zinc finger domain of zinc finger protein 224 674 2EOR pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 255- 287) of human zinc finger protein 224 674 2EOQ pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 283- 315) of human zinc finger protein 224 674 2ENC pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 395- 427) of human zinc finger protein 224 674 2ENA pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 311- 343) of human zinc finger protein 224 674 2EN8 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 171- 203) of human zinc finger protein 224 674 2EN1 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 563- 595) of human zinc finger protein 224 674 2EM9 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 367- 399) of human zinc finger protein 224 674 2EM8 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 423- 455) of human zinc finger protein 224 674 2EM7 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 339- 371) of human zinc finger protein 224 674 2EM6 pdb_description: 02-Oct-07 NMR 20 Solution structure of the c2h2 type zinc finger (region 199- 231) of human zinc finger protein 224 674 2EM0 pdb_description: 02-Oct-07 NMR 20 Solution structure of the 18th zf-c2h2 domain from human zinc finger protein 224 674 2ELZ pdb_description: 02-Oct-07 NMR 20 Solution structure of the 17th zf-c2h2 domain from human zinc finger protein 224 674 2ELY pdb_description: 02-Oct-07 NMR 20 Solution structure of the third zf-c2h2 domain from human zinc finger protein 224 674 Zimmer Variants: 674 chr19:44610665:A:G 2124_352_118_M->V;GENE=ZNF224;CDSS=1 674 chr19:44610798:A:T 2124_485_162_H->L;GENE=ZNF224;CDSS=1 674 chr19:44610843:C:T 2124_530_177_T->M;GENE=ZNF224;CDSS=1 674 chr19:44612231:A:G 2124_1918_640_K->E;GENE=ZNF224;CDSS=1 674 HGMD Variants: 674 chr19:44612231:A:G 2124_1918_640_K->E 674 oneKG Variants: 674 chr19:44611876:C:A 2124_1563_521_Y->* 0.000199681 674 chr19:44602030:A:G 2124_4_2_T->A 0.000798722 674 chr19:44602034:C:T 2124_8_3_T->M 0.000199681 674 chr19:44605324:A:G 2124_181_61_R->G 0.00319489 674 chr19:44605335:G:T 2124_192_64_K->N 0.000199681 674 chr19:44610665:A:G 2124_352_118_M->V 0.211062 674 chr19:44610701:T:G 2124_388_130_F->V 0.000199681 674 chr19:44610765:A:G 2124_452_151_N->S 0.000199681 674 chr19:44610798:A:T 2124_485_162_H->L 0.199081 674 chr19:44610840:A:G 2124_527_176_H->R 0.000199681 674 chr19:44610843:C:T 2124_530_177_T->M 0.0626997 674 chr19:44610887:C:T 2124_574_192_R->C 0.00159744 674 chr19:44610928:G:C 2124_615_205_K->N 0.000199681 674 chr19:44610935:G:A 2124_622_208_V->M 0.000599042 674 chr19:44610954:G:A 2124_641_214_S->N 0.0071885 674 chr19:44611041:G:A 2124_728_243_R->H 0.000199681 674 chr19:44611092:A:G 2124_779_260_Y->C 0.000199681 674 chr19:44611109:G:A 2124_796_266_G->R 0.000199681 674 chr19:44611135:G:T 2124_822_274_Q->H 0.000199681 674 chr19:44611245:C:T 2124_932_311_T->M 0.000199681 674 chr19:44611272:C:T 2124_959_320_T->M 0.000199681 674 chr19:44611317:G:A 2124_1004_335_R->H 0.00139776 674 chr19:44611321:G:A 2124_1008_336_M->I 0.000199681 674 chr19:44611383:G:A 2124_1070_357_R->Q 0.000599042 674 chr19:44611428:A:G 2124_1115_372_Y->C 0.000199681 674 chr19:44611439:G:C 2124_1126_376_E->Q 0.00858626 674 chr19:44611467:C:T 2124_1154_385_S->L 0.000599042 674 chr19:44611488:G:A 2124_1175_392_R->Q 0.000199681 674 chr19:44611493:C:T 2124_1180_394_H->Y 0.000399361 674 chr19:44611596:A:T 2124_1283_428_Y->F 0.000199681 674 chr19:44611605:T:C 2124_1292_431_V->A 0.000199681 674 chr19:44611654:G:T 2124_1341_447_Q->H 0.00858626 674 chr19:44611656:G:A 2124_1343_448_R->H 0.000399361 674 chr19:44611658:G:T 2124_1345_449_V->F 0.000399361 674 chr19:44611662:A:G 2124_1349_450_H->R 0.000199681 674 chr19:44611779:G:T 2124_1466_489_C->F 0.000199681 674 chr19:44611829:C:G 2124_1516_506_H->D 0.000599042 674 chr19:44611938:G:T 2124_1625_542_C->F 0.000199681 674 chr19:44612019:A:G 2124_1706_569_K->R 0.000199681 674 chr19:44612027:G:A 2124_1714_572_E->K 0.000199681 674 chr19:44612069:C:T 2124_1756_586_H->Y 0.000199681 674 chr19:44612108:G:A 2124_1795_599_D->N 0.000199681 674 chr19:44612136:C:T 2124_1823_608_S->F 0.000199681 674 chr19:44612169:G:T 2124_1856_619_S->I 0.00159744 674 chr19:44612211:T:C 2124_1898_633_I->T 0.000399361 674 chr19:44612231:A:G 2124_1918_640_K->E 0.398762 674 chr19:44612351:T:A 2124_2038_680_W->R 0.000199681 674 chr19:44612360:A:G 2124_2047_683_R->G 0.000199681 674 chr19:44612370:A:G 2124_2057_686_D->G 0.000199681 674 chr19:44612395:C:A 2124_2082_694_S->R 0.000199681 674 na12878 Variants: 674 chr19:44610665:A:G 2124_352_118_M->V 674 chr19:44610798:A:T 2124_485_162_H->L 674 chr19:44610843:C:T 2124_530_177_T->M 674 chr19:44612231:A:G 2124_1918_640_K->E 674 snyder Variants: 674 chr19:44610665:A:G 2124_352_118_M->V 674 chr19:44610798:A:T 2124_485_162_H->L 674 chr19:44612231:A:G 2124_1918_640_K->E 675 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000073008_ENST00000425690 gene_Name: PVR_HUMAN 675 list of pdbs: 675 4FQP pdb_description: 22-Aug-12 X-ray 3.600 Crystal structure of human nectin-like 5 full ectodomain (d1 675 3URO pdb_description: 07-Dec-11 X-ray 3.500 Poliovirus receptor cd155 d1d2 675 3UDW pdb_description: 14-Mar-12 X-ray 2.900 Crystal structure of the immunoreceptor tigit in complex wit poliovirus receptor (pvr/cd155/necl-5) d1 domain 675 3EPF pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 2 675 3EPD pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 3 675 3EPC pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 1 675 1NN8 pdb_description: 27-Jan-04 - - Cryoem structure of poliovirus receptor bound to poliovirus 675 1DGI pdb_description: 24-Jan-00 - - Cryo-em structure of human poliovirus(serotype 1)complexed with three domain cd155 675 Zimmer Variants: 675 chr19:45162038:A:G 1254_1020_340_I->M 675 HGMD Variants: 675 chr19:45150614:G:A 1254_199_67_A->T 675 oneKG Variants: 675 chr19:45162069:G:T 1254_1051_351_G->* 0.000199681 675 chr19:45147440:C:A 1254_44_15_A->E 0.000199681 675 chr19:45150522:A:G 1254_107_36_Q->R 0.000998403 675 chr19:45150614:G:A 1254_199_67_A->T 0.102236 675 chr19:45150621:A:G 1254_206_69_H->R 0.000199681 675 chr19:45150644:G:A 1254_229_77_V->I 0.000199681 675 chr19:45150717:C:T 1254_302_101_A->V 0.000399361 675 chr19:45153113:G:C 1254_460_154_V->L 0.00119808 675 chr19:45153171:C:T 1254_518_173_P->L 0.000399361 675 chr19:45153192:A:G 1254_539_180_H->R 0.000199681 675 chr19:45153206:G:A 1254_553_185_G->R 0.000199681 675 chr19:45153219:C:T 1254_566_189_T->M 0.000199681 675 chr19:45153230:C:G 1254_577_193_P->A 0.00978435 675 chr19:45153329:G:A 1254_676_226_E->K 0.00559105 675 chr19:45157249:C:G 1254_805_269_R->G 0.000199681 675 chr19:45157256:A:G 1254_812_271_N->S 0.000399361 675 chr19:45157271:G:C 1254_827_276_G->A 0.000199681 675 chr19:45157274:A:G 1254_830_277_Y->C 0.000399361 675 chr19:45161046:C:T 1254_859_287_P->S 0.000199681 675 chr19:45161070:G:A 1254_883_295_A->T 0.0513179 675 chr19:45161086:G:A 1254_899_300_R->H 0.000199681 675 chr19:45161089:C:A 1254_902_301_P->H 0.000199681 675 chr19:45161109:A:G 1254_922_308_T->A 0.000998403 675 chr19:45161110:C:T 1254_923_308_T->I 0.000798722 675 chr19:45161116:T:C 1254_929_310_L->S 0.000399361 675 chr19:45161134:A:G 1254_947_316_N->S 0.00159744 675 chr19:45162038:A:G 1254_1020_340_I->M 0.007987 675 chr19:45162042:C:T 1254_1024_342_R->C 0.000199681 675 chr19:45162051:A:G 1254_1033_345_I->V 0.000199681 675 chr19:45162059:C:A 1254_1041_347_F->L 0.000599042 675 chr19:45162084:C:A 1254_1066_356_L->M 0.000199681 675 chr19:45162166:C:T 1254_1148_383_S->L 0.000199681 675 chr19:45164576:G:A 1254_1168_390_A->T 0.000199681 675 chr19:45165022:G:T 1254_1198_400_A->S 0.000599042 675 na12878 Variants: 675 chr19:45162038:A:G 1254_1020_340_I->M 675 snyder Variants: 675 chr19:45150779:A:C 1254_364_122_T->P 675 chr19:45162038:A:G 1254_1020_340_I->M 676 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000073008_ENST00000406449 gene_Name: PVR_HUMAN 676 list of pdbs: 676 4FQP pdb_description: 22-Aug-12 X-ray 3.600 Crystal structure of human nectin-like 5 full ectodomain (d1 676 3URO pdb_description: 07-Dec-11 X-ray 3.500 Poliovirus receptor cd155 d1d2 676 3UDW pdb_description: 14-Mar-12 X-ray 2.900 Crystal structure of the immunoreceptor tigit in complex wit poliovirus receptor (pvr/cd155/necl-5) d1 domain 676 3EPF pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 2 676 3EPD pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 3 676 3EPC pdb_description: 11-Nov-08 - - Cryoem structure of poliovirus receptor bound to poliovirus type 1 676 1NN8 pdb_description: 27-Jan-04 - - Cryoem structure of poliovirus receptor bound to poliovirus 676 1DGI pdb_description: 24-Jan-00 - - Cryo-em structure of human poliovirus(serotype 1)complexed with three domain cd155 676 Zimmer Variants: 676 chr19:45162038:A:G 1179_1020_340_I->M;GENE=PVR;CDSS=1 676 HGMD Variants: 676 chr19:45150614:G:A 1179_199_67_A->T 676 oneKG Variants: 676 chr19:45162069:G:T 1179_1051_351_G->* 0.000199681 676 chr19:45147440:C:A 1179_44_15_A->E 0.000199681 676 chr19:45150522:A:G 1179_107_36_Q->R 0.000998403 676 chr19:45150614:G:A 1179_199_67_A->T 0.102236 676 chr19:45150621:A:G 1179_206_69_H->R,1 0.000199681 676 chr19:45150644:G:A 1179_229_77_V->I 0.000199681 676 chr19:45150717:C:T 1179_302_101_A->V 0.000399361 676 chr19:45153113:G:C 1179_460_154_V->L 0.00119808 676 chr19:45153171:C:T 1179_518_173_P->L 0.000399361 676 chr19:45153192:A:G 1179_539_180_H->R 0.000199681 676 chr19:45153206:G:A 1179_553_185_G->R 0.000199681 676 chr19:45153219:C:T 1179_566_189_T->M 0.000199681 676 chr19:45153230:C:G 1179_577_193_P->A 0.00978435 676 chr19:45153329:G:A 1179_676_226_E->K 0.00559105 676 chr19:45157249:C:G 1179_805_269_R->G 0.000199681 676 chr19:45157256:A:G 1179_812_271_N->S 0.000399361 676 chr19:45157271:G:C 1179_827_276_G->A 0.000199681 676 chr19:45157274:A:G 1179_830_277_Y->C 0.000399361 676 chr19:45161046:C:T 1179_859_287_P->S 0.000199681 676 chr19:45161070:G:A 1179_883_295_A->T 0.0513179 676 chr19:45161086:G:A 1179_899_300_R->H 0.000199681 676 chr19:45161089:C:A 1179_902_301_P->H 0.000199681 676 chr19:45161109:A:G 1179_922_308_T->A 0.000998403 676 chr19:45161110:C:T 1179_923_308_T->I 0.000798722 676 chr19:45161116:T:C 1179_929_310_L->S 0.000399361 676 chr19:45161134:A:G 1179_947_316_N->S 0.00159744 676 chr19:45162038:A:G 1179_1020_340_I->M 0.007987 676 chr19:45162042:C:T 1179_1024_342_R->C 0.000199681 676 chr19:45162051:A:G 1179_1033_345_I->V 0.000199681 676 chr19:45162059:C:A 1179_1041_347_F->L 0.000599042 676 chr19:45162084:C:A 1179_1066_356_L->M 0.000199681 676 chr19:45162166:C:T 1179_1148_383_S->L 0.000199681 676 chr19:45162189:C:A 1179_1171_391_R->S 0.165136 676 na12878 Variants: 676 chr19:45162038:A:G 1179_1020_340_I->M 676 chr19:45162189:C:A 1179_1171_391_R->S 676 snyder Variants: 676 chr19:45150779:A:C 1179_364_122_T->P 676 chr19:45162038:A:G 1179_1020_340_I->M 677 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000167749_ENST00000324041 gene_Name: KLK4_HUMAN 677 list of pdbs: 677 2BDI pdb_description: 03-Oct-06 X-ray 3.000 Human kallikrein 4 complex with cobalt and p- aminobenzamidine 677 2BDH pdb_description: 03-Oct-06 X-ray 3.000 Human kallikrein 4 complex with zinc and p-aminobenzamidine 677 2BDG pdb_description: 03-Oct-06 X-ray 1.950 Human kallikrein 4 complex with nickel and p-aminobenzamidin 677 Zimmer Variants: 677 chr19:51411636:G:T 765_591_197_H->Q;GENE=KLK4;CDSS=1 677 HGMD Variants: 677 chr19:51411852:C:T 765_458_153_W->* 677 chr19:51412668:A:C 765_64_22_S->A 677 oneKG Variants: 677 chr19:51411852:C:T 765_458_153_W->* 0.000599042 677 chr19:51410275:G:A 765_680_227_P->L 0.000998403 677 chr19:51410321:T:A 765_634_212_I->F 0.000199681 677 chr19:51410329:C:T 765_626_209_G->E 0.000199681 677 chr19:51411620:A:G 765_607_203_C->R 0.000199681 677 chr19:51411636:G:T 765_591_197_H->Q 0.001597 677 chr19:51411682:T:C 765_545_182_Y->C 0.000199681 677 chr19:51411751:C:T 765_476_159_G->D 0.0191693 677 chr19:51411880:C:A 765_430_144_A->S 0.00119808 677 chr19:51411997:G:A 765_313_105_H->Y 0.000399361 677 chr19:51411999:C:T 765_311_104_R->Q 0.000399361 677 chr19:51412057:T:C 765_253_85_S->G 0.000199681 677 chr19:51412072:C:T 765_238_80_G->R 0.000798722 677 chr19:51412080:T:G 765_230_77_Y->S 0.000199681 677 chr19:51412613:T:C 765_119_40_H->R 0.000199681 677 chr19:51412665:G:A 765_67_23_L->F 0.000199681 677 chr19:51412668:A:C 765_64_22_S->A 0.128594 677 chr19:51413937:C:T 765_58_20_A->T 0.000599042 677 chr19:51413984:G:C 765_11_4_A->G 0.000599042 677 na12878 Variants: 677 chr19:51411636:G:T 765_591_197_H->Q 677 snyder Variants: 677 chr19:51411636:G:T 765_591_197_H->Q 678 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196228_ENST00000376700 gene_Name: ST1C3_HUMAN 678 list of pdbs: 678 2REO pdb_description: 09-Oct-07 X-ray 2.650 Crystal structure of human sulfotransferase 1c3 (sult1c3) in with pap 678 2H8K pdb_description: 20-Jun-06 X-ray 3.200 Human sulfotranferase sult1c3 in complex with pap 678 Zimmer Variants: 678 chr2:108877062:T:A 915_841_281_L->M;GENE=SULT1C3;CDSS=1 678 HGMD Variants: 678 chr2:108863758:G:A 915_108_36_W->* 678 oneKG Variants: 678 chr2:108863758:G:A 915_108_36_W->* 0.01877 678 chr2:108875227:G:A 915_564_188_W->* 0.000199681 678 chr2:108863652:T:C 915_2_1_M->T 0.000199681 678 chr2:108863661:T:C 915_11_4_I->T 0.000599042 678 chr2:108863672:G:A 915_22_8_A->T 0.000599042 678 chr2:108863679:C:T 915_29_10_T->M 0.000399361 678 chr2:108863712:T:C 915_62_21_M->T 0.000599042 678 chr2:108863713:G:T 915_63_21_M->I 0.000199681 678 chr2:108868850:A:T 915_202_68_M->L 0.000199681 678 chr2:108868854:T:G 915_206_69_I->S 0.000199681 678 chr2:108868907:C:T 915_259_87_H->Y 0.000599042 678 chr2:108868909:C:G 915_261_87_H->Q 0.000199681 678 chr2:108868910:G:A 915_262_88_A->T 0.0111821 678 chr2:108869824:T:C 915_325_109_S->P 0.00159744 678 chr2:108869893:T:A 915_394_132_C->S 0.000199681 678 chr2:108872034:T:A 915_406_136_Y->N 0.000798722 678 chr2:108872071:A:G 915_443_148_Y->C 0.0163738 678 chr2:108872148:G:A 915_520_174_G->R 0.000399361 678 chr2:108875198:G:A 915_535_179_G->R 0.34984 678 chr2:108875244:T:C 915_581_194_M->T 0.491613 678 chr2:108875249:C:T 915_586_196_R->W 0.000599042 678 chr2:108875250:G:A 915_587_196_R->Q 0.000199681 678 chr2:108875267:T:C 915_604_202_Y->H 0.0173722 678 chr2:108875270:G:A 915_607_203_E->K 0.0177716 678 chr2:108875456:T:A 915_656_219_F->Y 0.000199681 678 chr2:108875471:G:T 915_671_224_W->L 0.408546 678 chr2:108875527:G:T 915_727_243_D->Y 0.000399361 678 chr2:108875548:A:G 915_748_250_T->A 0.000399361 678 chr2:108875552:C:T 915_752_251_A->V 0.000199681 678 chr2:108875569:T:C 915_769_257_F->L 0.000199681 678 chr2:108875597:G:A 915_797_266_R->K 0.000199681 678 chr2:108877062:T:A 915_841_281_L->M 0.277955 678 chr2:108877126:T:C 915_905_302_L->P 0.000399361 678 chr2:108877130:G:T 915_909_303_E->D 0.000199681 678 na12878 Variants: 678 chr2:108877062:T:A 915_841_281_L->M 678 snyder Variants: 678 chr2:108877062:T:A 915_841_281_L->M 679 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000124370_ENST00000244217 gene_Name: MCEE_HUMAN 679 list of pdbs: 679 3RMU pdb_description: 11-May-11 X-ray 1.800 Crystal structure of human methylmalonyl-coa epimerase, mcee 679 Zimmer Variants: 679 chr2:71351403:C:A 531_311_104_R->L;GENE=MCEE;CDSS=1 679 chr2:71351487:G:A 531_227_76_A->V;GENE=MCEE;CDSS=1 679 HGMD Variants: 679 chr2:71351575:G:A 531_139_47_R->* 679 chr2:71337204:G:A 531_427_143_R->C 679 chr2:71351536:T:G 531_178_60_K->Q 679 oneKG Variants: 679 chr2:71337191:T:C 531_440_147_E->G 0.000599042 679 chr2:71337203:C:T 531_428_143_R->H 0.0305511 679 chr2:71337204:G:A 531_427_143_R->C 0.000998403 679 chr2:71351403:C:A 531_311_104_R->L 0.201478 679 chr2:71351487:G:A 531_227_76_A->V 0.182508 679 chr2:71351536:T:G 531_178_60_K->Q 0.00419329 679 chr2:71351548:G:A 531_166_56_P->S 0.000199681 679 chr2:71357340:C:A 531_10_4_V->L 0.000199681 679 chr2:71357343:G:C 531_7_3_R->G 0.000599042 679 na12878 Variants: 679 chr2:71351487:G:A 531_227_76_A->V 679 snyder Variants: 679 chr2:71351487:G:A 531_227_76_A->V 680 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000399289 gene_Name: KCNE1_HUMAN 680 list of pdbs: 680 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 680 Zimmer Variants: 680 chr21:35821821:T:C 390_112_38_S->G 680 HGMD Variants: 680 chr21:35821584:G:A 390_349_117_Q->* 680 chr21:35821883:C:T 390_50_17_W->* 680 chr21:35821554:G:T 390_379_127_P->T 680 chr21:35821559:G:A 390_374_125_T->M 680 chr21:35821608:C:T 390_325_109_V->I 680 chr21:35821641:G:A 390_292_98_R->W 680 chr21:35821656:C:T 390_277_93_A->T 680 chr21:35821660:G:T 390_273_91_D->E 680 chr21:35821674:A:G 390_259_87_W->R 680 chr21:35821680:C:T 390_253_85_D->N 680 chr21:35821686:C:T 390_247_83_E->K 680 chr21:35821691:T:C 390_242_81_Y->C 680 chr21:35821695:C:T 390_238_80_V->I 680 chr21:35821707:C:T 390_226_76_D->N 680 chr21:35821712:G:A 390_221_74_S->L 680 chr21:35821723:C:G 390_210_70_K->N 680 chr21:35821724:T:A 390_209_70_K->M 680 chr21:35821733:C:T 390_200_67_R->H 680 chr21:35821734:G:A 390_199_67_R->C 680 chr21:35821754:C:T 390_179_60_G->D 680 chr21:35821757:A:G 390_176_59_L->P 680 chr21:35821761:T:G 390_172_58_T->P 680 chr21:35821770:C:T 390_163_55_G->S 680 chr21:35821773:A:C 390_160_54_F->V 680 chr21:35821775:A:G 390_158_53_F->S 680 chr21:35821779:C:T 390_154_52_G->R 680 chr21:35821786:C:T 390_147_49_M->I 680 chr21:35821794:C:T 390_139_47_V->I 680 chr21:35821794:C:A 390_139_47_V->F 680 chr21:35821821:T:C 390_112_38_S->G 680 chr21:35821826:C:T 390_107_36_R->H 680 chr21:35821838:C:T 390_95_32_R->H 680 chr21:35821839:G:A 390_94_32_R->C 680 chr21:35821850:G:A 390_83_28_S->L 680 chr21:35821859:C:A 390_74_25_G->V 680 chr21:35821874:G:A 390_59_20_T->I 680 chr21:35821886:A:G 390_47_16_L->P 680 chr21:35821904:G:A 390_29_10_T->M 680 chr21:35821910:G:A 390_23_8_A->V 680 chr21:35821913:G:A 390_20_7_T->I 680 oneKG Variants: 680 chr21:35821559:G:A 390_374_125_T->M 0.000399361 680 chr21:35821680:C:T 390_253_85_D->N 0.00379393 680 chr21:35821686:C:T 390_247_83_E->K 0.000199681 680 chr21:35821712:G:A 390_221_74_S->L 0.000199681 680 chr21:35821770:C:T 390_163_55_G->S 0.000399361 680 chr21:35821794:C:T 390_139_47_V->I 0.000998403 680 chr21:35821821:T:C 390_112_38_S->G 0.326078 680 chr21:35821826:C:T 390_107_36_R->H 0.000399361 680 chr21:35821878:C:T 390_55_19_E->K 0.000399361 680 chr21:35821925:A:G 390_8_3_L->P 0.000798722 680 na12878 Variants: 680 chr21:35821821:T:C 390_112_38_S->G 680 snyder Variants: 680 chr21:35821821:T:C 390_112_38_S->G 681 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000337385 gene_Name: KCNE1_HUMAN 681 list of pdbs: 681 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 681 Zimmer Variants: 681 chr21:35821821:T:C 390_112_38_S->G 681 HGMD Variants: 681 chr21:35821584:G:A 390_349_117_Q->* 681 chr21:35821883:C:T 390_50_17_W->* 681 chr21:35821554:G:T 390_379_127_P->T 681 chr21:35821559:G:A 390_374_125_T->M 681 chr21:35821608:C:T 390_325_109_V->I 681 chr21:35821641:G:A 390_292_98_R->W 681 chr21:35821656:C:T 390_277_93_A->T 681 chr21:35821660:G:T 390_273_91_D->E 681 chr21:35821674:A:G 390_259_87_W->R 681 chr21:35821680:C:T 390_253_85_D->N 681 chr21:35821686:C:T 390_247_83_E->K 681 chr21:35821691:T:C 390_242_81_Y->C 681 chr21:35821695:C:T 390_238_80_V->I 681 chr21:35821707:C:T 390_226_76_D->N 681 chr21:35821712:G:A 390_221_74_S->L 681 chr21:35821723:C:G 390_210_70_K->N 681 chr21:35821724:T:A 390_209_70_K->M 681 chr21:35821733:C:T 390_200_67_R->H 681 chr21:35821734:G:A 390_199_67_R->C 681 chr21:35821754:C:T 390_179_60_G->D 681 chr21:35821757:A:G 390_176_59_L->P 681 chr21:35821761:T:G 390_172_58_T->P 681 chr21:35821770:C:T 390_163_55_G->S 681 chr21:35821773:A:C 390_160_54_F->V 681 chr21:35821775:A:G 390_158_53_F->S 681 chr21:35821779:C:T 390_154_52_G->R 681 chr21:35821786:C:T 390_147_49_M->I 681 chr21:35821794:C:T 390_139_47_V->I 681 chr21:35821794:C:A 390_139_47_V->F 681 chr21:35821821:T:C 390_112_38_S->G 681 chr21:35821826:C:T 390_107_36_R->H 681 chr21:35821838:C:T 390_95_32_R->H 681 chr21:35821839:G:A 390_94_32_R->C 681 chr21:35821850:G:A 390_83_28_S->L 681 chr21:35821859:C:A 390_74_25_G->V 681 chr21:35821874:G:A 390_59_20_T->I 681 chr21:35821886:A:G 390_47_16_L->P 681 chr21:35821904:G:A 390_29_10_T->M 681 chr21:35821910:G:A 390_23_8_A->V 681 chr21:35821913:G:A 390_20_7_T->I 681 oneKG Variants: 681 chr21:35821559:G:A 390_374_125_T->M 0.000399361 681 chr21:35821680:C:T 390_253_85_D->N 0.00379393 681 chr21:35821686:C:T 390_247_83_E->K 0.000199681 681 chr21:35821712:G:A 390_221_74_S->L 0.000199681 681 chr21:35821770:C:T 390_163_55_G->S 0.000399361 681 chr21:35821794:C:T 390_139_47_V->I 0.000998403 681 chr21:35821821:T:C 390_112_38_S->G 0.326078 681 chr21:35821826:C:T 390_107_36_R->H 0.000399361 681 chr21:35821878:C:T 390_55_19_E->K 0.000399361 681 chr21:35821925:A:G 390_8_3_L->P 0.000798722 681 na12878 Variants: 681 chr21:35821821:T:C 390_112_38_S->G 681 snyder Variants: 681 chr21:35821821:T:C 390_112_38_S->G 682 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000432085 gene_Name: KCNE1_HUMAN 682 list of pdbs: 682 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 682 Zimmer Variants: 682 chr21:35821821:T:C 390_112_38_S->G;GENE=KCNE1;CDSS=1 682 HGMD Variants: 682 chr21:35821584:G:A 390_349_117_Q->* 682 chr21:35821883:C:T 390_50_17_W->* 682 chr21:35821554:G:T 390_379_127_P->T 682 chr21:35821559:G:A 390_374_125_T->M 682 chr21:35821608:C:T 390_325_109_V->I 682 chr21:35821641:G:A 390_292_98_R->W 682 chr21:35821656:C:T 390_277_93_A->T 682 chr21:35821660:G:T 390_273_91_D->E 682 chr21:35821674:A:G 390_259_87_W->R 682 chr21:35821680:C:T 390_253_85_D->N 682 chr21:35821686:C:T 390_247_83_E->K 682 chr21:35821691:T:C 390_242_81_Y->C 682 chr21:35821695:C:T 390_238_80_V->I 682 chr21:35821707:C:T 390_226_76_D->N 682 chr21:35821712:G:A 390_221_74_S->L 682 chr21:35821723:C:G 390_210_70_K->N 682 chr21:35821724:T:A 390_209_70_K->M 682 chr21:35821733:C:T 390_200_67_R->H 682 chr21:35821734:G:A 390_199_67_R->C 682 chr21:35821754:C:T 390_179_60_G->D 682 chr21:35821757:A:G 390_176_59_L->P 682 chr21:35821761:T:G 390_172_58_T->P 682 chr21:35821770:C:T 390_163_55_G->S 682 chr21:35821773:A:C 390_160_54_F->V 682 chr21:35821775:A:G 390_158_53_F->S 682 chr21:35821779:C:T 390_154_52_G->R 682 chr21:35821786:C:T 390_147_49_M->I 682 chr21:35821794:C:T 390_139_47_V->I 682 chr21:35821794:C:A 390_139_47_V->F 682 chr21:35821821:T:C 390_112_38_S->G 682 chr21:35821826:C:T 390_107_36_R->H 682 chr21:35821838:C:T 390_95_32_R->H 682 chr21:35821839:G:A 390_94_32_R->C 682 chr21:35821850:G:A 390_83_28_S->L 682 chr21:35821859:C:A 390_74_25_G->V 682 chr21:35821874:G:A 390_59_20_T->I 682 chr21:35821886:A:G 390_47_16_L->P 682 chr21:35821904:G:A 390_29_10_T->M 682 chr21:35821910:G:A 390_23_8_A->V 682 chr21:35821913:G:A 390_20_7_T->I 682 oneKG Variants: 682 chr21:35821559:G:A 390_374_125_T->M 0.000399361 682 chr21:35821680:C:T 390_253_85_D->N 0.00379393 682 chr21:35821686:C:T 390_247_83_E->K 0.000199681 682 chr21:35821712:G:A 390_221_74_S->L 0.000199681 682 chr21:35821770:C:T 390_163_55_G->S 0.000399361 682 chr21:35821794:C:T 390_139_47_V->I 0.000998403 682 chr21:35821821:T:C 390_112_38_S->G 0.326078 682 chr21:35821826:C:T 390_107_36_R->H 0.000399361 682 chr21:35821878:C:T 390_55_19_E->K 0.000399361 682 chr21:35821925:A:G 390_8_3_L->P 0.000798722 682 na12878 Variants: 682 chr21:35821821:T:C 390_112_38_S->G 682 snyder Variants: 682 chr21:35821821:T:C 390_112_38_S->G 683 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000399286 gene_Name: KCNE1_HUMAN 683 list of pdbs: 683 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 683 Zimmer Variants: 683 chr21:35821821:T:C 390_112_38_S->G 683 HGMD Variants: 683 chr21:35821584:G:A 390_349_117_Q->* 683 chr21:35821883:C:T 390_50_17_W->* 683 chr21:35821554:G:T 390_379_127_P->T 683 chr21:35821559:G:A 390_374_125_T->M 683 chr21:35821608:C:T 390_325_109_V->I 683 chr21:35821641:G:A 390_292_98_R->W 683 chr21:35821656:C:T 390_277_93_A->T 683 chr21:35821660:G:T 390_273_91_D->E 683 chr21:35821674:A:G 390_259_87_W->R 683 chr21:35821680:C:T 390_253_85_D->N 683 chr21:35821686:C:T 390_247_83_E->K 683 chr21:35821691:T:C 390_242_81_Y->C 683 chr21:35821695:C:T 390_238_80_V->I 683 chr21:35821707:C:T 390_226_76_D->N 683 chr21:35821712:G:A 390_221_74_S->L 683 chr21:35821723:C:G 390_210_70_K->N 683 chr21:35821724:T:A 390_209_70_K->M 683 chr21:35821733:C:T 390_200_67_R->H 683 chr21:35821734:G:A 390_199_67_R->C 683 chr21:35821754:C:T 390_179_60_G->D 683 chr21:35821757:A:G 390_176_59_L->P 683 chr21:35821761:T:G 390_172_58_T->P 683 chr21:35821770:C:T 390_163_55_G->S 683 chr21:35821773:A:C 390_160_54_F->V 683 chr21:35821775:A:G 390_158_53_F->S 683 chr21:35821779:C:T 390_154_52_G->R 683 chr21:35821786:C:T 390_147_49_M->I 683 chr21:35821794:C:T 390_139_47_V->I 683 chr21:35821794:C:A 390_139_47_V->F 683 chr21:35821821:T:C 390_112_38_S->G 683 chr21:35821826:C:T 390_107_36_R->H 683 chr21:35821838:C:T 390_95_32_R->H 683 chr21:35821839:G:A 390_94_32_R->C 683 chr21:35821850:G:A 390_83_28_S->L 683 chr21:35821859:C:A 390_74_25_G->V 683 chr21:35821874:G:A 390_59_20_T->I 683 chr21:35821886:A:G 390_47_16_L->P 683 chr21:35821904:G:A 390_29_10_T->M 683 chr21:35821910:G:A 390_23_8_A->V 683 chr21:35821913:G:A 390_20_7_T->I 683 oneKG Variants: 683 chr21:35821559:G:A 390_374_125_T->M 0.000399361 683 chr21:35821680:C:T 390_253_85_D->N 0.00379393 683 chr21:35821686:C:T 390_247_83_E->K 0.000199681 683 chr21:35821712:G:A 390_221_74_S->L 0.000199681 683 chr21:35821770:C:T 390_163_55_G->S 0.000399361 683 chr21:35821794:C:T 390_139_47_V->I 0.000998403 683 chr21:35821821:T:C 390_112_38_S->G 0.326078 683 chr21:35821826:C:T 390_107_36_R->H 0.000399361 683 chr21:35821878:C:T 390_55_19_E->K 0.000399361 683 chr21:35821925:A:G 390_8_3_L->P 0.000798722 683 na12878 Variants: 683 chr21:35821821:T:C 390_112_38_S->G 683 snyder Variants: 683 chr21:35821821:T:C 390_112_38_S->G 684 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000416357 gene_Name: KCNE1_HUMAN 684 list of pdbs: 684 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 684 Zimmer Variants: 684 chr21:35821821:T:C 390_112_38_S->G 684 HGMD Variants: 684 chr21:35821584:G:A 390_349_117_Q->* 684 chr21:35821883:C:T 390_50_17_W->* 684 chr21:35821554:G:T 390_379_127_P->T 684 chr21:35821559:G:A 390_374_125_T->M 684 chr21:35821608:C:T 390_325_109_V->I 684 chr21:35821641:G:A 390_292_98_R->W 684 chr21:35821656:C:T 390_277_93_A->T 684 chr21:35821660:G:T 390_273_91_D->E 684 chr21:35821674:A:G 390_259_87_W->R 684 chr21:35821680:C:T 390_253_85_D->N 684 chr21:35821686:C:T 390_247_83_E->K 684 chr21:35821691:T:C 390_242_81_Y->C 684 chr21:35821695:C:T 390_238_80_V->I 684 chr21:35821707:C:T 390_226_76_D->N 684 chr21:35821712:G:A 390_221_74_S->L 684 chr21:35821723:C:G 390_210_70_K->N 684 chr21:35821724:T:A 390_209_70_K->M 684 chr21:35821733:C:T 390_200_67_R->H 684 chr21:35821734:G:A 390_199_67_R->C 684 chr21:35821754:C:T 390_179_60_G->D 684 chr21:35821757:A:G 390_176_59_L->P 684 chr21:35821761:T:G 390_172_58_T->P 684 chr21:35821770:C:T 390_163_55_G->S 684 chr21:35821773:A:C 390_160_54_F->V 684 chr21:35821775:A:G 390_158_53_F->S 684 chr21:35821779:C:T 390_154_52_G->R 684 chr21:35821786:C:T 390_147_49_M->I 684 chr21:35821794:C:T 390_139_47_V->I 684 chr21:35821794:C:A 390_139_47_V->F 684 chr21:35821821:T:C 390_112_38_S->G 684 chr21:35821826:C:T 390_107_36_R->H 684 chr21:35821838:C:T 390_95_32_R->H 684 chr21:35821839:G:A 390_94_32_R->C 684 chr21:35821850:G:A 390_83_28_S->L 684 chr21:35821859:C:A 390_74_25_G->V 684 chr21:35821874:G:A 390_59_20_T->I 684 chr21:35821886:A:G 390_47_16_L->P 684 chr21:35821904:G:A 390_29_10_T->M 684 chr21:35821910:G:A 390_23_8_A->V 684 chr21:35821913:G:A 390_20_7_T->I 684 oneKG Variants: 684 chr21:35821559:G:A 390_374_125_T->M 0.000399361 684 chr21:35821680:C:T 390_253_85_D->N 0.00379393 684 chr21:35821686:C:T 390_247_83_E->K 0.000199681 684 chr21:35821712:G:A 390_221_74_S->L 0.000199681 684 chr21:35821770:C:T 390_163_55_G->S 0.000399361 684 chr21:35821794:C:T 390_139_47_V->I 0.000998403 684 chr21:35821821:T:C 390_112_38_S->G 0.326078 684 chr21:35821826:C:T 390_107_36_R->H 0.000399361 684 chr21:35821878:C:T 390_55_19_E->K 0.000399361 684 chr21:35821925:A:G 390_8_3_L->P 0.000798722 684 na12878 Variants: 684 chr21:35821821:T:C 390_112_38_S->G 684 snyder Variants: 684 chr21:35821821:T:C 390_112_38_S->G 685 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000180509_ENST00000399284 gene_Name: KCNE1_HUMAN 685 list of pdbs: 685 2K21 pdb_description: 09-Dec-08 NMR 10 Nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degreE C 685 Zimmer Variants: 685 chr21:35821821:T:C 390_112_38_S->G 685 HGMD Variants: 685 chr21:35821584:G:A 390_349_117_Q->* 685 chr21:35821883:C:T 390_50_17_W->* 685 chr21:35821554:G:T 390_379_127_P->T 685 chr21:35821559:G:A 390_374_125_T->M 685 chr21:35821608:C:T 390_325_109_V->I 685 chr21:35821641:G:A 390_292_98_R->W 685 chr21:35821656:C:T 390_277_93_A->T 685 chr21:35821660:G:T 390_273_91_D->E 685 chr21:35821674:A:G 390_259_87_W->R 685 chr21:35821680:C:T 390_253_85_D->N 685 chr21:35821686:C:T 390_247_83_E->K 685 chr21:35821691:T:C 390_242_81_Y->C 685 chr21:35821695:C:T 390_238_80_V->I 685 chr21:35821707:C:T 390_226_76_D->N 685 chr21:35821712:G:A 390_221_74_S->L 685 chr21:35821723:C:G 390_210_70_K->N 685 chr21:35821724:T:A 390_209_70_K->M 685 chr21:35821733:C:T 390_200_67_R->H 685 chr21:35821734:G:A 390_199_67_R->C 685 chr21:35821754:C:T 390_179_60_G->D 685 chr21:35821757:A:G 390_176_59_L->P 685 chr21:35821761:T:G 390_172_58_T->P 685 chr21:35821770:C:T 390_163_55_G->S 685 chr21:35821773:A:C 390_160_54_F->V 685 chr21:35821775:A:G 390_158_53_F->S 685 chr21:35821779:C:T 390_154_52_G->R 685 chr21:35821786:C:T 390_147_49_M->I 685 chr21:35821794:C:T 390_139_47_V->I 685 chr21:35821794:C:A 390_139_47_V->F 685 chr21:35821821:T:C 390_112_38_S->G 685 chr21:35821826:C:T 390_107_36_R->H 685 chr21:35821838:C:T 390_95_32_R->H 685 chr21:35821839:G:A 390_94_32_R->C 685 chr21:35821850:G:A 390_83_28_S->L 685 chr21:35821859:C:A 390_74_25_G->V 685 chr21:35821874:G:A 390_59_20_T->I 685 chr21:35821886:A:G 390_47_16_L->P 685 chr21:35821904:G:A 390_29_10_T->M 685 chr21:35821910:G:A 390_23_8_A->V 685 chr21:35821913:G:A 390_20_7_T->I 685 oneKG Variants: 685 chr21:35821559:G:A 390_374_125_T->M 0.000399361 685 chr21:35821680:C:T 390_253_85_D->N 0.00379393 685 chr21:35821686:C:T 390_247_83_E->K 0.000199681 685 chr21:35821712:G:A 390_221_74_S->L 0.000199681 685 chr21:35821770:C:T 390_163_55_G->S 0.000399361 685 chr21:35821794:C:T 390_139_47_V->I 0.000998403 685 chr21:35821821:T:C 390_112_38_S->G 0.326078 685 chr21:35821826:C:T 390_107_36_R->H 0.000399361 685 chr21:35821878:C:T 390_55_19_E->K 0.000399361 685 chr21:35821925:A:G 390_8_3_L->P 0.000798722 685 na12878 Variants: 685 chr21:35821821:T:C 390_112_38_S->G 685 snyder Variants: 685 chr21:35821821:T:C 390_112_38_S->G 686 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000243156_ENST00000441493 gene_Name: MICA3_HUMAN 686 list of pdbs: 686 2D88 pdb_description: 02-Jun-06 NMR 20 Solution structure of the ch domain from human mical-3 protein 686 Zimmer Variants: 686 chr22:18301693:T:C 6009_3734_1245_Q->R;GENE=MICAL3;CDSS=1 686 HGMD Variants: 686 chr22:18387403:T:C 6009_467_156_H->R 686 oneKG Variants: 686 chr22:18376601:G:A 6009_1519_507_R->* 0.000199681 686 chr22:18273560:C:G 6009_5947_1983_E->Q 0.00439297 686 chr22:18273569:G:A 6009_5938_1980_R->W 0.000199681 686 chr22:18273641:T:C 6009_5866_1956_I->V 0.000199681 686 chr22:18274009:C:G 6009_5709_1903_E->D 0.000199681 686 chr22:18274050:C:A 6009_5668_1890_D->Y 0.000798722 686 chr22:18291643:C:T 6009_5617_1873_V->M 0.000199681 686 chr22:18291661:G:A 6009_5599_1867_R->W 0.000199681 686 chr22:18291694:G:A 6009_5566_1856_R->W 0.000199681 686 chr22:18293533:C:T 6009_5492_1831_R->H 0.000199681 686 chr22:18300085:A:T 6009_5342_1781_V->E 0.000199681 686 chr22:18300089:C:T 6009_5338_1780_V->I 0.000599042 686 chr22:18300163:G:C 6009_5264_1755_A->G 0.000199681 686 chr22:18300171:C:A 6009_5256_1752_K->N 0.000798722 686 chr22:18300200:C:A 6009_5227_1743_V->F 0.000199681 686 chr22:18300227:C:T 6009_5200_1734_A->T 0.000199681 686 chr22:18300275:C:T 6009_5152_1718_G->S 0.000199681 686 chr22:18300277:T:A 6009_5150_1717_E->V 0.000199681 686 chr22:18300278:C:T 6009_5149_1717_E->K 0.000199681 686 chr22:18300311:G:A,T 6009_5116_1706_R->C,2 0.000399361 686 chr22:18300311:G:A,T 6009_5116_1706_R->S 0.000399361 686 chr22:18300403:G:A 6009_5024_1675_P->L 0.000199681 686 chr22:18300470:G:T 6009_4957_1653_P->T 0.00419329 686 chr22:18300491:G:A 6009_4936_1646_R->W 0.00159744 686 chr22:18300514:G:T 6009_4913_1638_A->E 0.000199681 686 chr22:18300583:C:G 6009_4844_1615_R->T 0.000199681 686 chr22:18300610:C:A 6009_4817_1606_S->I 0.000199681 686 chr22:18300637:A:T 6009_4790_1597_M->K 0.00159744 686 chr22:18300641:G:A 6009_4786_1596_R->C 0.000798722 686 chr22:18300679:G:A 6009_4748_1583_P->L 0.000199681 686 chr22:18300694:T:C 6009_4733_1578_Q->R 0.000199681 686 chr22:18300706:G:A 6009_4721_1574_T->M 0.000599042 686 chr22:18300710:C:T 6009_4717_1573_G->R 0.000199681 686 chr22:18300724:A:G 6009_4703_1568_L->P 0.000199681 686 chr22:18300740:T:C 6009_4687_1563_K->E 0.000998403 686 chr22:18300751:G:A 6009_4676_1559_P->L 0.000599042 686 chr22:18300772:C:T 6009_4655_1552_R->H 0.000199681 686 chr22:18300773:G:A 6009_4654_1552_R->C 0.000199681 686 chr22:18300775:G:A 6009_4652_1551_P->L 0.0585064 686 chr22:18300787:G:A 6009_4640_1547_P->L 0.000199681 686 chr22:18300793:G:A 6009_4634_1545_T->M 0.000199681 686 chr22:18300814:C:A 6009_4613_1538_S->I 0.000199681 686 chr22:18300824:C:T 6009_4603_1535_E->K 0.000199681 686 chr22:18300844:T:C 6009_4583_1528_D->G 0.000199681 686 chr22:18300887:C:T 6009_4540_1514_V->M 0.000199681 686 chr22:18300931:C:A 6009_4496_1499_R->L 0.000199681 686 chr22:18300940:C:T 6009_4487_1496_R->Q 0.000599042 686 chr22:18300947:A:C 6009_4480_1494_W->G 0.000399361 686 chr22:18300989:C:T 6009_4438_1480_E->K 0.000199681 686 chr22:18301081:T:A 6009_4346_1449_D->V 0.000199681 686 chr22:18301084:G:A 6009_4343_1448_S->L 0.000199681 686 chr22:18301171:C:T 6009_4256_1419_R->H 0.000199681 686 chr22:18301172:G:A 6009_4255_1419_R->C 0.000998403 686 chr22:18301186:C:T 6009_4241_1414_S->N 0.000798722 686 chr22:18301190:G:A 6009_4237_1413_R->C 0.0313498 686 chr22:18301238:C:T 6009_4189_1397_E->K 0.000399361 686 chr22:18301279:A:C 6009_4148_1383_L->R 0.000399361 686 chr22:18301325:C:T 6009_4102_1368_V->I 0.000199681 686 chr22:18301348:G:A 6009_4079_1360_P->L 0.000199681 686 chr22:18301394:G:A 6009_4033_1345_R->C 0.000199681 686 chr22:18301412:C:T 6009_4015_1339_G->R 0.000399361 686 chr22:18301508:T:C 6009_3919_1307_R->G 0.00239617 686 chr22:18301570:G:A 6009_3857_1286_P->L 0.014976 686 chr22:18301600:G:A 6009_3827_1276_T->I 0.0333466 686 chr22:18301666:G:A 6009_3761_1254_P->L 0.000199681 686 chr22:18301685:C:T 6009_3742_1248_V->M 0.000399361 686 chr22:18301693:T:C 6009_3734_1245_Q->R 0.254992 686 chr22:18301709:C:T 6009_3718_1240_G->R 0.000199681 686 chr22:18301756:C:T 6009_3671_1224_R->Q 0.000199681 686 chr22:18301853:A:G 6009_3574_1192_S->P 0.000199681 686 chr22:18301873:G:C 6009_3554_1185_P->R 0.000399361 686 chr22:18304248:C:T 6009_3476_1159_R->Q 0.0 686 chr22:18304272:G:C 6009_3452_1151_P->R 0.000199681 686 chr22:18304804:T:C 6009_3440_1147_Q->R 0.00638978 686 chr22:18304814:G:C 6009_3430_1144_P->A 0.00599042 686 chr22:18304829:T:C 6009_3415_1139_K->E 0.000199681 686 chr22:18304877:C:T 6009_3367_1123_A->T 0.000199681 686 chr22:18304891:C:T 6009_3353_1118_R->H 0.0860623 686 chr22:18304926:C:G 6009_3318_1106_W->C 0.000199681 686 chr22:18305742:G:A 6009_3278_1093_P->L 0.000399361 686 chr22:18305788:A:G 6009_3232_1078_S->P 0.000199681 686 chr22:18305797:C:T 6009_3223_1075_D->N 0.019369 686 chr22:18310436:G:A 6009_3167_1056_P->L 0.000199681 686 chr22:18310439:G:A 6009_3164_1055_A->V 0.066893 686 chr22:18310511:G:A 6009_3092_1031_A->V 0.000199681 686 chr22:18310515:C:T 6009_3088_1030_A->T 0.000599042 686 chr22:18314645:G:T 6009_3030_1010_D->E 0.000199681 686 chr22:18314715:A:G 6009_2960_987_F->S 0.000199681 686 chr22:18314815:G:A 6009_2860_954_P->S 0.00219649 686 chr22:18314821:G:A 6009_2854_952_R->C 0.000199681 686 chr22:18324699:C:T 6009_2690_897_R->H 0.000199681 686 chr22:18347692:C:T 6009_2578_860_V->M 0.000399361 686 chr22:18347695:C:T 6009_2575_859_A->T 0.000199681 686 chr22:18347707:C:T 6009_2563_855_G->R 0.000199681 686 chr22:18347725:C:T 6009_2545_849_A->T 0.000399361 686 chr22:18348748:T:A 6009_2459_820_Y->F 0.000199681 686 chr22:18354783:T:G 6009_2248_750_M->L 0.0185703 686 chr22:18368712:T:C 6009_2173_725_M->V 0.000199681 686 chr22:18368752:C:A 6009_2133_711_R->S 0.000199681 686 chr22:18368793:C:T 6009_2092_698_G->R 0.000199681 686 chr22:18368805:G:A 6009_2080_694_R->W 0.000599042 686 chr22:18369986:T:C 6009_2017_673_K->E 0.000998403 686 chr22:18370124:G:A 6009_1969_657_L->F 0.000199681 686 chr22:18371835:A:C 6009_1856_619_F->C 0.000199681 686 chr22:18371877:C:G 6009_1814_605_G->A 0.000199681 686 chr22:18371961:T:C 6009_1730_577_K->R 0.00259585 686 chr22:18371986:A:C 6009_1705_569_S->A 0.000399361 686 chr22:18374272:T:C 6009_1673_558_H->R 0.000199681 686 chr22:18376646:C:T 6009_1474_492_E->K 0.0125799 686 chr22:18378117:C:T 6009_1382_461_S->N 0.000199681 686 chr22:18379072:G:C 6009_1262_421_S->C 0.000199681 686 chr22:18379620:T:C 6009_1076_359_N->S 0.000199681 686 chr22:18379638:G:A 6009_1058_353_S->F 0.000199681 686 chr22:18379708:C:T 6009_988_330_V->M 0.000199681 686 chr22:18379738:C:T 6009_958_320_D->N 0.000199681 686 chr22:18383610:G:A 6009_845_282_T->I 0.000199681 686 chr22:18383707:T:C 6009_748_250_I->V 0.000199681 686 chr22:18384742:A:G 6009_593_198_I->T 0.000199681 686 chr22:18389316:T:C 6009_263_88_K->R 0.000199681 686 chr22:18389326:T:C 6009_253_85_T->A 0.000199681 686 chr22:18389439:C:T 6009_140_47_R->H 0.000199681 686 chr22:18389526:C:T 6009_53_18_R->Q 0.000199681 686 chr22:18389527:G:A 6009_52_18_R->W 0.000399361 686 chr22:18389548:G:C 6009_31_11_P->A 0.0367412 686 na12878 Variants: 686 chr22:18389548:G:C 6009_31_11_P->A 686 chr22:18300775:G:A 6009_4652_1551_P->L 686 chr22:18301693:T:C 6009_3734_1245_Q->R 686 chr22:18304891:C:T 6009_3353_1118_R->H 686 chr22:18310439:G:A 6009_3164_1055_A->V 686 snyder Variants: 686 chr22:18300638:T:C 6009_4789_1597_M->V 686 chr22:18301693:T:C 6009_3734_1245_Q->R 687 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186265_ENST00000334529 gene_Name: BTLA_HUMAN 687 list of pdbs: 687 2AW2 pdb_description: 27-Sep-05 X-ray 2.800 Crystal structure of the human btla-hvem complex 687 Zimmer Variants: 687 chr3:112185025:G:A 870_800_267_P->L 687 chr3:112190137:G:T 870_469_157_R->S;GENE=BTLA;CDSS=1 687 HGMD Variants: 687 chr3:112188609:T:G 870_590_197_N->T 687 oneKG Variants: 687 chr3:112185025:G:A 870_800_267_P->L 0.355431 687 chr3:112185145:T:A 870_680_227_D->V 0.000199681 687 chr3:112185221:G:A 870_604_202_H->Y 0.000199681 687 chr3:112188609:T:G 870_590_197_N->T 0.0371406 687 chr3:112188649:T:C 870_550_184_K->E 0.000199681 687 chr3:112190137:G:T 870_469_157_R->S 0.011781 687 chr3:112198335:T:C 870_370_124_I->V 0.00399361 687 chr3:112198454:T:A 870_251_84_D->V 0.000199681 687 chr3:112198608:A:T 870_97_33_S->T 0.000199681 687 na12878 Variants: 687 chr3:112185025:G:A 870_800_267_P->L 687 chr3:112190137:G:T 870_469_157_R->S 687 snyder Variants: 687 chr3:112185025:G:A 870_800_267_P->L 687 chr3:112190137:G:T 870_469_157_R->S 688 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000186265_ENST00000383680 gene_Name: BTLA_HUMAN 688 list of pdbs: 688 2AW2 pdb_description: 27-Sep-05 X-ray 2.800 Crystal structure of the human btla-hvem complex 688 Zimmer Variants: 688 chr3:112185025:G:A 726_656_219_P->L;GENE=BTLA;CDSS=1 688 HGMD Variants: 688 chr3:112188609:T:G 726_446_149_N->T 688 oneKG Variants: 688 chr3:112185025:G:A 726_656_219_P->L 0.355431 688 chr3:112185145:T:A 726_536_179_D->V 0.000199681 688 chr3:112185221:G:A 726_460_154_H->Y 0.000199681 688 chr3:112188609:T:G 726_446_149_N->T 0.0371406 688 chr3:112188649:T:C 726_406_136_K->E 0.000199681 688 chr3:112198335:T:C 726_370_124_I->V 0.00399361 688 chr3:112198454:T:A 726_251_84_D->V 0.000199681 688 chr3:112198608:A:T 726_97_33_S->T 0.000199681 688 na12878 Variants: 688 chr3:112185025:G:A 726_656_219_P->L 688 snyder Variants: 688 chr3:112185025:G:A 726_656_219_P->L 689 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000145321_ENST00000273951 gene_Name: VTDB_HUMAN 689 list of pdbs: 689 1MA9 pdb_description: 04-Feb-03 X-ray 2.400 Crystal structure of the complex of human vitamin d binding protein and rabbit muscle actin 689 1LOT pdb_description: 31-Jul-02 X-ray 2.500 Crystal structure of the complex of actin with vitamin d-bin protein 689 1KXP pdb_description: 19-Jun-02 X-ray 2.100 Crystal structure of human vitamin d-binding protein in comp skeletal actin 689 1KW2 pdb_description: 19-Jun-02 X-ray 2.150 Crystal structure of uncomplexed vitamin d-binding protein 689 1J7E pdb_description: 06-Feb-02 X-ray 2.550 A structural basis for the unique binding features of the human vitamin d-binding protein 689 1J78 pdb_description: 06-Feb-02 X-ray 2.310 Crystallographic analysis of the human vitamin d binding protein 689 Zimmer Variants: 689 chr4:72618296:T:C 1425_1334_445_H->R 689 chr4:72618334:A:C 1425_1296_432_D->E 689 HGMD Variants: 689 chr4:72618323:G:T 1425_1307_436_T->K 689 chr4:72618334:A:C 1425_1296_432_D->E 689 oneKG Variants: 689 chr4:72631195:C:A 1425_427_143_E->* 0.000199681 689 chr4:72611922:T:G 1425_1396_466_I->L 0.000199681 689 chr4:72618245:C:T 1425_1385_462_C->Y 0.000199681 689 chr4:72618279:T:C 1425_1351_451_N->D 0.000199681 689 chr4:72618296:T:C 1425_1334_445_H->R 0.007188 689 chr4:72618297:G:A 1425_1333_445_H->Y 0.00219649 689 chr4:72618323:G:T 1425_1307_436_T->K 0.207867 689 chr4:72618334:A:C 1425_1296_432_D->E 0.381589 689 chr4:72620143:G:A 1425_1247_416_T->I 0.000199681 689 chr4:72620162:A:G 1425_1228_410_Y->H 0.000798722 689 chr4:72620212:T:C 1425_1178_393_K->R 0.000199681 689 chr4:72620763:C:G 1425_1096_366_E->Q 0.000199681 689 chr4:72620789:G:A 1425_1070_357_P->L 0.000998403 689 chr4:72620808:T:C 1425_1051_351_S->G 0.00119808 689 chr4:72622463:C:G 1425_1000_334_V->L 0.000199681 689 chr4:72622519:A:G 1425_944_315_M->T 0.000199681 689 chr4:72622601:T:C 1425_862_288_N->D 0.000199681 689 chr4:72623829:A:G 1425_761_254_L->P 0.000199681 689 chr4:72623839:C:T 1425_751_251_V->I 0.000199681 689 chr4:72629152:G:C 1425_674_225_A->G 0.000199681 689 chr4:72629547:T:A 1425_580_194_S->C 0.000199681 689 chr4:72629588:T:C 1425_539_180_K->R 0.000199681 689 chr4:72629621:T:C 1425_506_169_Q->R 0.0 689 chr4:72629648:A:G 1425_479_160_M->T 0.00119808 689 chr4:72631182:G:A 1425_440_147_A->V 0.000199681 689 chr4:72631185:T:C 1425_437_146_E->G 0.000399361 689 chr4:72631194:T:G 1425_428_143_E->A 0.000199681 689 chr4:72631218:G:A 1425_404_135_T->I 0.000399361 689 chr4:72634034:T:A 1425_245_82_D->V 0.000199681 689 chr4:72634081:T:G 1425_198_66_E->D 0.000199681 689 chr4:72634084:C:A 1425_195_65_K->N 0.000599042 689 chr4:72635114:C:T 1425_62_21_R->Q 0.000798722 689 chr4:72635115:G:A 1425_61_21_R->W 0.000399361 689 na12878 Variants: 689 chr4:72618296:T:C 1425_1334_445_H->R 689 chr4:72618323:G:T 1425_1307_436_T->K 689 chr4:72618334:A:C 1425_1296_432_D->E 689 snyder Variants: 689 chr4:72618296:T:C 1425_1334_445_H->R 689 chr4:72618334:A:C 1425_1296_432_D->E 690 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000145321_ENST00000504199 gene_Name: VTDB_HUMAN 690 list of pdbs: 690 1MA9 pdb_description: 04-Feb-03 X-ray 2.400 Crystal structure of the complex of human vitamin d binding protein and rabbit muscle actin 690 1LOT pdb_description: 31-Jul-02 X-ray 2.500 Crystal structure of the complex of actin with vitamin d-bin protein 690 1KXP pdb_description: 19-Jun-02 X-ray 2.100 Crystal structure of human vitamin d-binding protein in comp skeletal actin 690 1KW2 pdb_description: 19-Jun-02 X-ray 2.150 Crystal structure of uncomplexed vitamin d-binding protein 690 1J7E pdb_description: 06-Feb-02 X-ray 2.550 A structural basis for the unique binding features of the human vitamin d-binding protein 690 1J78 pdb_description: 06-Feb-02 X-ray 2.310 Crystallographic analysis of the human vitamin d binding protein 690 Zimmer Variants: 690 chr4:72618296:T:C 1482_1391_464_H->R 690 chr4:72618334:A:C 1482_1353_451_D->E 690 HGMD Variants: 690 chr4:72618323:G:T 1482_1364_455_T->K 690 chr4:72618334:A:C 1482_1353_451_D->E 690 oneKG Variants: 690 chr4:72631195:C:A 1482_484_162_E->* 0.000199681 690 chr4:72611922:T:G 1482_1453_485_I->L 0.000199681 690 chr4:72618245:C:T 1482_1442_481_C->Y 0.000199681 690 chr4:72618279:T:C 1482_1408_470_N->D 0.000199681 690 chr4:72618296:T:C 1482_1391_464_H->R 0.007188 690 chr4:72618297:G:A 1482_1390_464_H->Y 0.00219649 690 chr4:72618323:G:T 1482_1364_455_T->K 0.207867 690 chr4:72618334:A:C 1482_1353_451_D->E 0.381589 690 chr4:72620143:G:A 1482_1304_435_T->I 0.000199681 690 chr4:72620162:A:G 1482_1285_429_Y->H 0.000798722 690 chr4:72620212:T:C 1482_1235_412_K->R 0.000199681 690 chr4:72620763:C:G 1482_1153_385_E->Q 0.000199681 690 chr4:72620789:G:A 1482_1127_376_P->L 0.000998403 690 chr4:72620808:T:C 1482_1108_370_S->G 0.00119808 690 chr4:72622463:C:G 1482_1057_353_V->L 0.000199681 690 chr4:72622519:A:G 1482_1001_334_M->T 0.000199681 690 chr4:72622601:T:C 1482_919_307_N->D 0.000199681 690 chr4:72623829:A:G 1482_818_273_L->P 0.000199681 690 chr4:72623839:C:T 1482_808_270_V->I 0.000199681 690 chr4:72629152:G:C 1482_731_244_A->G 0.000199681 690 chr4:72629547:T:A 1482_637_213_S->C 0.000199681 690 chr4:72629588:T:C 1482_596_199_K->R 0.000199681 690 chr4:72629621:T:C 1482_563_188_Q->R 0.0 690 chr4:72629648:A:G 1482_536_179_M->T 0.00119808 690 chr4:72631182:G:A 1482_497_166_A->V 0.000199681 690 chr4:72631185:T:C 1482_494_165_E->G 0.000399361 690 chr4:72631194:T:G 1482_485_162_E->A 0.000199681 690 chr4:72631218:G:A 1482_461_154_T->I 0.000399361 690 chr4:72634034:T:A 1482_302_101_D->V 0.000199681 690 chr4:72634081:T:G 1482_255_85_E->D 0.000199681 690 chr4:72634084:C:A 1482_252_84_K->N 0.000599042 690 chr4:72635114:C:T 1482_119_40_R->Q 0.000798722 690 chr4:72635115:G:A 1482_118_40_R->W 0.000399361 690 chr4:72649756:C:A 1482_37_13_A->S 0.000199681 690 chr4:72669661:C:A 1482_3_1_M->I 0.0133786 690 na12878 Variants: 690 chr4:72618296:T:C 1482_1391_464_H->R 690 chr4:72618323:G:T 1482_1364_455_T->K 690 chr4:72618334:A:C 1482_1353_451_D->E 690 snyder Variants: 690 chr4:72618296:T:C 1482_1391_464_H->R 690 chr4:72618334:A:C 1482_1353_451_D->E 690 chr4:72669661:C:A 1482_3_1_M->I 691 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000127415_ENST00000247933 gene_Name: IDUA_HUMAN 691 list of pdbs: 691 4MJ4 pdb_description: 18-Sep-13 X-ray 2.170 Human iduronidase apo structure p21 form 691 4MJ2 pdb_description: 18-Sep-13 X-ray 2.100 Crystal structure of apo-iduronidase in the r3 form 691 4KH2 pdb_description: 18-Sep-13 X-ray 2.360 Crystal structure of human alpha-l-iduronidase complex with fluoro-alpha-l-idopyranosyluronic acid fluoride 691 4KGL pdb_description: 18-Sep-13 X-ray 2.700 Crystal structure of human alpha-l-iduronidase complex with 5s]-2-carboxy-3,4,5-trihydroxy-piperidine 691 4KGJ pdb_description: 18-Sep-13 X-ray 2.990 Crystal structure of human alpha-l-iduronidase complex with alpha-l-idopyranosyluronic acid fluoride 691 3W82 pdb_description: 21-Aug-13 X-ray 2.760 Human alpha-l-iduronidase in complex with iduronic acid 691 3W81 pdb_description: 21-Aug-13 X-ray 2.300 Human alpha-l-iduronidase 691 1Y24 pdb_description: 10-May-05 Theoret model Homology model for human alpha-l-iduronidase 691 Zimmer Variants: 691 chr4:980971:T:G 1962_99_33_H->Q 691 HGMD Variants: 691 chr4:980995:G:A 1962_123_41_W->* 691 chr4:981597:C:A 1962_159_53_C->* 691 chr4:981616:C:T 1962_178_60_Q->* 691 chr4:981625:C:T 1962_187_63_Q->* 691 chr4:981630:C:A 1962_192_64_Y->* 691 chr4:981641:G:A 1962_203_68_W->* 691 chr4:981646:C:T 1962_208_70_Q->* 691 chr4:995263:C:A 1962_501_167_Y->* 691 chr4:995302:G:A 1962_540_180_W->* 691 chr4:995480:C:G 1962_603_201_Y->* 691 chr4:995483:C:A 1962_606_202_Y->* 691 chr4:995797:G:T 1962_820_274_E->* 691 chr4:995872:G:T 1962_895_299_E->* 691 chr4:995905:C:T 1962_928_310_Q->* 691 chr4:996113:C:A 1962_1029_343_Y->* 691 chr4:996113:C:G 1962_1029_343_Y->* 691 chr4:996528:C:T 1962_1198_400_Q->* 691 chr4:996535:G:A 1962_1205_402_W->* 691 chr4:996536:G:A 1962_1206_402_W->* 691 chr4:996540:G:T 1962_1210_404_E->* 691 chr4:997367:C:T 1962_1681_561_Q->* 691 chr4:997815:C:G 1962_1743_581_Y->* 691 chr4:997822:C:T 1962_1750_584_Q->* 691 chr4:998074:C:T 1962_1855_619_R->* 691 chr4:998080:C:T 1962_1861_621_R->* 691 chr4:998096:G:A 1962_1877_626_W->* 691 chr4:998101:C:T 1962_1882_628_R->* 691 chr4:980873:A:C 1962_1_1_M->L 691 chr4:980874:T:C 1962_2_1_M->T 691 chr4:980936:C:T 1962_64_22_P->S 691 chr4:980970:A:C 1962_98_33_H->P 691 chr4:980971:T:G 1962_99_33_H->Q 691 chr4:981024:G:A 1962_152_51_G->D 691 chr4:981028:C:A 1962_156_52_F->L 691 chr4:981661:G:A 1962_223_75_A->T 691 chr4:981661:G:C 1962_223_75_A->P 691 chr4:981665:A:G 1962_227_76_Y->C 691 chr4:981674:C:T 1962_236_79_A->V 691 chr4:981683:A:C 1962_245_82_H->P 691 chr4:981684:C:G 1962_246_82_H->Q 691 chr4:981688:G:C 1962_250_84_G->R 691 chr4:981688:G:A 1962_250_84_G->S 691 chr4:981703:C:T 1962_265_89_R->W 691 chr4:981704:G:A 1962_266_89_R->Q 691 chr4:994407:A:C 1962_307_103_T->P 691 chr4:994414:G:A 1962_314_105_R->Q 691 chr4:994455:G:T 1962_355_119_D->Y 691 chr4:994683:G:C 1962_399_133_M->I 691 chr4:994705:A:T 1962_421_141_T->S 691 chr4:994763:C:A 1962_479_160_A->D 691 chr4:994769:G:T 1962_485_162_R->I 691 chr4:994769:G:A 1962_485_162_R->K 691 chr4:995265:G:T 1962_503_168_G->V 691 chr4:995292:T:C 1962_530_177_F->S 691 chr4:995294:G:A 1962_532_178_E->K 691 chr4:995298:C:G 1962_536_179_T->R 691 chr4:995301:G:C 1962_539_180_W->S 691 chr4:995306:G:A 1962_544_182_E->K 691 chr4:995308:G:C 1962_546_182_E->D 691 chr4:995310:C:G 1962_548_183_P->R 691 chr4:995351:G:A 1962_589_197_G->S 691 chr4:995467:G:A 1962_590_197_G->D 691 chr4:995484:G:A 1962_607_203_D->N 691 chr4:995491:G:A 1962_614_205_C->Y 691 chr4:995500:G:T 1962_623_208_G->V 691 chr4:995500:G:A 1962_623_208_G->D 691 chr4:995530:T:C 1962_653_218_L->P 691 chr4:995533:G:A 1962_656_219_G->E 691 chr4:995587:T:G 1962_710_237_L->R 691 chr4:995590:T:G 1962_713_238_L->R 691 chr4:995590:T:A 1962_713_238_L->Q 691 chr4:995595:C:G 1962_718_240_H->D 691 chr4:995596:A:G 1962_719_240_H->R 691 chr4:995656:C:T 1962_779_260_S->F 691 chr4:995664:A:T 1962_787_263_R->W 691 chr4:995770:G:C 1962_793_265_G->R 691 chr4:995786:T:G 1962_809_270_I->S 691 chr4:995803:G:A 1962_826_276_E->K 691 chr4:995875:G:A 1962_898_300_A->T 691 chr4:995894:G:T 1962_917_306_W->L 691 chr4:995900:T:C 1962_923_308_L->P 691 chr4:995920:G:T 1962_943_315_D->Y 691 chr4:995933:C:T 1962_956_319_A->V 691 chr4:996063:G:C 1962_979_327_A->P 691 chr4:996121:T:G 1962_1037_346_L->R 691 chr4:996128:C:G 1962_1044_348_N->K 691 chr4:996129:G:T 1962_1045_349_D->Y 691 chr4:996129:G:A 1962_1045_349_D->N 691 chr4:996133:A:T 1962_1049_350_N->I 691 chr4:996165:G:A 1962_1081_361_A->T 691 chr4:996171:C:T 1962_1087_363_R->C 691 chr4:996172:G:A 1962_1088_363_R->H 691 chr4:996175:C:T 1962_1091_364_T->M 691 chr4:996180:A:C 1962_1096_366_T->P 691 chr4:996184:C:A 1962_1100_367_A->E 691 chr4:996205:C:A 1962_1121_374_T->N 691 chr4:996223:A:G 1962_1139_380_Q->R 691 chr4:996232:G:A 1962_1148_383_R->H 691 chr4:996238:C:G 1962_1154_385_P->R 691 chr4:996247:C:G 1962_1163_388_T->R 691 chr4:996271:T:C 1962_1187_396_L->P 691 chr4:996555:G:C 1962_1225_409_G->R 691 chr4:996592:T:C 1962_1262_421_L->P 691 chr4:996599:C:G 1962_1269_423_S->R 691 chr4:996636:G:C 1962_1306_436_A->P 691 chr4:996887:G:C 1962_1466_489_R->P 691 chr4:996890:T:C 1962_1469_490_L->P 691 chr4:996896:G:C 1962_1475_492_R->P 691 chr4:996908:C:T 1962_1487_496_P->L 691 chr4:996908:C:G 1962_1487_496_P->R 691 chr4:996932:T:C 1962_1511_504_M->T 691 chr4:997185:T:C 1962_1577_526_L->P 691 chr4:997206:C:T 1962_1598_533_P->L 691 chr4:997206:C:G 1962_1598_533_P->R 691 chr4:997211:C:T 1962_1603_535_L->F 691 chr4:997394:G:C 1962_1708_570_D->H 691 chr4:997805:T:A 1962_1733_578_L->Q 691 chr4:997876:T:A 1962_1804_602_F->I 691 chr4:998074:C:G 1962_1855_619_R->G 691 chr4:998077:G:T 1962_1858_620_V->F 691 chr4:998087:T:C 1962_1868_623_L->P 691 chr4:998093:A:G 1962_1874_625_Y->C 691 chr4:998095:T:C 1962_1876_626_W->R 691 chr4:998102:G:C 1962_1883_628_R->P 691 chr4:998117:C:T 1962_1898_633_S->L 691 chr4:998117:C:G 1962_1898_633_S->W 691 oneKG Variants: 691 chr4:980919:C:A 1962_47_16_S->* 0.000199681 691 chr4:996535:G:A 1962_1205_402_W->* 0.000399361 691 chr4:980883:T:C 1962_11_4_L->P 0.000199681 691 chr4:980962:C:G 1962_90_30_H->Q 0.000199681 691 chr4:980966:G:T 1962_94_32_V->L 0.000199681 691 chr4:980971:T:G 1962_99_33_H->Q 0.108027 691 chr4:981002:C:G 1962_130_44_R->G 0.000199681 691 chr4:981602:C:T 1962_164_55_P->L 0.000199681 691 chr4:981637:A:T 1962_199_67_S->C 0.000199681 691 chr4:981673:G:A 1962_235_79_A->T 0.0101837 691 chr4:981684:C:G 1962_246_82_H->Q 0.00119808 691 chr4:981688:G:A 1962_250_84_G->S 0.00199681 691 chr4:981734:C:T 1962_296_99_T->I 0.0061901 691 chr4:994402:G:A 1962_302_101_G->E 0.000199681 691 chr4:994414:G:A 1962_314_105_R->Q 0.16873 691 chr4:994416:G:A 1962_316_106_G->S 0.000199681 691 chr4:994446:G:A 1962_346_116_G->R 0.00219649 691 chr4:994467:G:A 1962_367_123_E->K 0.00139776 691 chr4:995256:G:A 1962_494_165_G->D 0.000798722 691 chr4:995343:C:G 1962_581_194_T->S 0.000199681 691 chr4:995544:G:A 1962_667_223_D->N 0.00259585 691 chr4:995547:T:C 1962_670_224_S->P 0.000199681 691 chr4:995578:G:C 1962_701_234_S->T 0.000399361 691 chr4:995586:C:T 1962_709_237_L->F 0.0071885 691 chr4:995634:G:T 1962_757_253_G->C 0.00239617 691 chr4:995664:A:T 1962_787_263_R->W 0.000199681 691 chr4:995783:C:G 1962_806_269_S->C 0.000399361 691 chr4:995791:A:C 1962_814_272_I->L 0.000199681 691 chr4:995825:T:C 1962_848_283_I->T 0.000199681 691 chr4:995942:T:A 1962_965_322_V->E 0.00179712 691 chr4:996115:C:G 1962_1031_344_A->G 0.000599042 691 chr4:996130:A:G 1962_1046_349_D->G 0.000199681 691 chr4:996165:G:A 1962_1081_361_A->T 0.217652 691 chr4:996177:C:G 1962_1093_365_L->V 0.000399361 691 chr4:996214:C:T 1962_1130_377_P->L 0.000199681 691 chr4:996555:G:C 1962_1225_409_G->R 0.014976 691 chr4:996660:G:A 1962_1330_444_D->N 0.000399361 691 chr4:996673:C:A 1962_1343_448_A->D 0.000599042 691 chr4:996675:C:A 1962_1345_449_H->N 0.000199681 691 chr4:996690:G:A 1962_1360_454_V->I 0.21865 691 chr4:996873:C:A 1962_1452_484_D->E 0.000599042 691 chr4:996925:C:T 1962_1504_502_R->W 0.000199681 691 chr4:997190:C:G 1962_1582_528_P->A 0.00958466 691 chr4:997829:C:T 1962_1757_586_S->F 0.000798722 691 chr4:997837:G:A 1962_1765_589_G->S 0.000399361 691 chr4:997888:G:T 1962_1816_606_V->L 0.000199681 691 chr4:998075:G:A 1962_1856_619_R->Q 0.000599042 691 chr4:998102:G:T 1962_1883_628_R->L 0.000199681 691 chr4:998155:G:C 1962_1936_646_G->R 0.000399361 691 na12878 Variants: 691 chr4:980971:T:G 1962_99_33_H->Q 691 snyder Variants: 691 chr4:980971:T:G 1962_99_33_H->Q 691 chr4:994414:G:A 1962_314_105_R->Q 691 chr4:996165:G:A 1962_1081_361_A->T 691 chr4:996690:G:A 1962_1360_454_V->I 692 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000113360_ENST00000511367 gene_Name: RNC_HUMAN 692 list of pdbs: 692 2KHX pdb_description: 23-Feb-10 NMR 10 Drosha double-stranded RNA binding motif 692 Zimmer Variants: 692 chr5:31515657:G:A 4125_962_321_S->L;GENE=DROSHA;CDSS=1;DBRECUR=DROSHA 692 HGMD Variants: 692 chr5:31526205:G:A 4125_835_279_R->C 692 chr5:31526796:G:T 4125_244_82_P->T 692 oneKG Variants: 692 chr5:31429583:G:A 4125_3215_1072_P->L 0.000199681 692 chr5:31437362:C:T 4125_2926_976_V->I 0.000199681 692 chr5:31464363:T:C 4125_2554_852_I->V 0.000199681 692 chr5:31468122:G:A 4125_2290_764_P->S 0.000199681 692 chr5:31495479:C:A 4125_1669_557_A->S 0.000399361 692 chr5:31515208:C:T 4125_1177_393_E->K 0.000199681 692 chr5:31515273:C:T 4125_1112_371_R->H 0.000399361 692 chr5:31515298:C:T 4125_1087_363_A->T 0.000199681 692 chr5:31515324:C:T 4125_1061_354_R->H 0.000199681 692 chr5:31515325:G:A 4125_1060_354_R->C 0.000399361 692 chr5:31515582:G:A 4125_1037_346_P->L 0.000399361 692 chr5:31515657:G:A 4125_962_321_S->L 0.281949 692 chr5:31515664:C:T 4125_955_319_G->S 0.000199681 692 chr5:31515667:A:C 4125_952_318_Y->D 0.000199681 692 chr5:31521240:T:C 4125_937_313_R->G 0.000399361 692 chr5:31526211:G:A 4125_829_277_R->C 0.000199681 692 chr5:31526249:C:T 4125_791_264_R->Q 0.000199681 692 chr5:31526255:T:C,G 4125_785_262_D->G 0.000998403 692 chr5:31526255:T:C,G 4125_785_262_D->A 0.000998403 692 chr5:31526258:T:C 4125_782_261_Q->R 0.000399361 692 chr5:31526271:C:T 4125_769_257_D->N 0.000199681 692 chr5:31526285:C:T 4125_755_252_R->Q 0.000199681 692 chr5:31526310:G:C 4125_730_244_H->D 0.000199681 692 chr5:31526346:T:C 4125_694_232_R->G 0.000199681 692 chr5:31526359:G:T 4125_681_227_H->Q 0.000199681 692 chr5:31526423:T:C 4125_617_206_H->R 0.000199681 692 chr5:31526505:G:A 4125_535_179_P->S 0.000199681 692 chr5:31526513:T:C 4125_527_176_N->S 0.000199681 692 chr5:31526531:G:A 4125_509_170_P->L 0.0357428 692 chr5:31526567:G:A 4125_473_158_P->L 0.000399361 692 chr5:31526580:G:A 4125_460_154_P->S 0.000199681 692 chr5:31526670:T:C 4125_370_124_M->V 0.000199681 692 chr5:31526741:G:A 4125_299_100_P->L 0.000399361 692 chr5:31526756:G:C 4125_284_95_P->R 0.000199681 692 chr5:31526780:G:A 4125_260_87_P->L 0.000399361 692 chr5:31526792:G:A 4125_248_83_P->L 0.000798722 692 chr5:31526816:C:T 4125_224_75_R->Q 0.000199681 692 chr5:31526841:G:T 4125_199_67_P->T 0.00958466 692 chr5:31526874:G:A 4125_166_56_P->S 0.000199681 692 chr5:31526930:T:G 4125_110_37_Q->P 0.000199681 692 chr5:31526999:G:T 4125_41_14_P->Q 0.000199681 692 chr5:31529159:T:G 4125_8_3_Q->P 0.000199681 692 na12878 Variants: 692 chr5:31515657:G:A 4125_962_321_S->L 692 snyder Variants: 692 chr5:31515657:G:A 4125_962_321_S->L 693 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000113360_ENST00000344624 gene_Name: RNC_HUMAN 693 list of pdbs: 693 2KHX pdb_description: 23-Feb-10 NMR 10 Drosha double-stranded RNA binding motif 693 Zimmer Variants: 693 chr5:31515657:G:A 4125_962_321_S->L 693 HGMD Variants: 693 chr5:31526205:G:A 4125_835_279_R->C 693 chr5:31526796:G:T 4125_244_82_P->T 693 oneKG Variants: 693 chr5:31429583:G:A 4125_3215_1072_P->L 0.000199681 693 chr5:31437362:C:T 4125_2926_976_V->I 0.000199681 693 chr5:31464363:T:C 4125_2554_852_I->V 0.000199681 693 chr5:31468122:G:A 4125_2290_764_P->S 0.000199681 693 chr5:31495479:C:A 4125_1669_557_A->S 0.000399361 693 chr5:31515208:C:T 4125_1177_393_E->K 0.000199681 693 chr5:31515273:C:T 4125_1112_371_R->H 0.000399361 693 chr5:31515298:C:T 4125_1087_363_A->T 0.000199681 693 chr5:31515324:C:T 4125_1061_354_R->H 0.000199681 693 chr5:31515325:G:A 4125_1060_354_R->C 0.000399361 693 chr5:31515582:G:A 4125_1037_346_P->L 0.000399361 693 chr5:31515657:G:A 4125_962_321_S->L 0.281949 693 chr5:31515664:C:T 4125_955_319_G->S 0.000199681 693 chr5:31515667:A:C 4125_952_318_Y->D 0.000199681 693 chr5:31521240:T:C 4125_937_313_R->G 0.000399361 693 chr5:31526211:G:A 4125_829_277_R->C 0.000199681 693 chr5:31526249:C:T 4125_791_264_R->Q 0.000199681 693 chr5:31526255:T:C,G 4125_785_262_D->G 0.000998403 693 chr5:31526255:T:C,G 4125_785_262_D->A 0.000998403 693 chr5:31526258:T:C 4125_782_261_Q->R 0.000399361 693 chr5:31526271:C:T 4125_769_257_D->N 0.000199681 693 chr5:31526285:C:T 4125_755_252_R->Q 0.000199681 693 chr5:31526310:G:C 4125_730_244_H->D 0.000199681 693 chr5:31526346:T:C 4125_694_232_R->G 0.000199681 693 chr5:31526359:G:T 4125_681_227_H->Q 0.000199681 693 chr5:31526423:T:C 4125_617_206_H->R 0.000199681 693 chr5:31526505:G:A 4125_535_179_P->S 0.000199681 693 chr5:31526513:T:C 4125_527_176_N->S 0.000199681 693 chr5:31526531:G:A 4125_509_170_P->L 0.0357428 693 chr5:31526567:G:A 4125_473_158_P->L 0.000399361 693 chr5:31526580:G:A 4125_460_154_P->S 0.000199681 693 chr5:31526670:T:C 4125_370_124_M->V 0.000199681 693 chr5:31526741:G:A 4125_299_100_P->L 0.000399361 693 chr5:31526756:G:C 4125_284_95_P->R 0.000199681 693 chr5:31526780:G:A 4125_260_87_P->L 0.000399361 693 chr5:31526792:G:A 4125_248_83_P->L 0.000798722 693 chr5:31526816:C:T 4125_224_75_R->Q 0.000199681 693 chr5:31526841:G:T 4125_199_67_P->T 0.00958466 693 chr5:31526874:G:A 4125_166_56_P->S 0.000199681 693 chr5:31526930:T:G 4125_110_37_Q->P 0.000199681 693 chr5:31526999:G:T 4125_41_14_P->Q 0.000199681 693 chr5:31529159:T:G 4125_8_3_Q->P 0.000199681 693 na12878 Variants: 693 chr5:31515657:G:A 4125_962_321_S->L 693 snyder Variants: 693 chr5:31515657:G:A 4125_962_321_S->L 694 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000376917 gene_Name: MOG_HUMAN 694 list of pdbs: 694 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 694 Zimmer Variants: 694 chr6:29634003:G:C 744_511_171_V->L 694 chr6:29634012:A:G 744_520_174_I->V 694 HGMD Variants: 694 chr6:29627405:C:G 744_398_133_S->C 694 chr6:29634012:A:G 744_520_174_I->V 694 oneKG Variants: 694 chr6:29627168:G:C 744_161_54_R->P 0.000399361 694 chr6:29627170:A:G 744_163_55_I->V 0.000199681 694 chr6:29627203:G:A 744_196_66_V->M 0.000199681 694 chr6:29627218:C:G 744_211_71_P->A 0.000199681 694 chr6:29627222:C:A,T 744_215_72_P->H 0.0163738 694 chr6:29627222:C:A,T 744_215_72_P->L 0.0163738 694 chr6:29627290:C:G 744_283_95_R->G 0.000399361 694 chr6:29627396:G:A 744_389_130_R->Q 0.000199681 694 chr6:29633997:A:T 744_505_169_I->F 0.000599042 694 chr6:29634003:G:C 744_511_171_V->L 0.180511 694 chr6:29634012:A:G 744_520_174_I->V 0.026757 694 chr6:29634028:A:C 744_536_179_Q->P 0.000199681 694 chr6:29635693:G:A 744_584_195_R->Q 0.000399361 694 chr6:29638101:T:A,C 744_636_212_F->L 0.00279553 694 chr6:29638163:G:A 744_698_233_R->Q 0.000199681 694 na12878 Variants: 694 chr6:29634012:A:G 744_520_174_I->V 694 snyder Variants: 694 chr6:29634012:A:G 744_520_174_I->V 695 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000376888 gene_Name: MOG_HUMAN 695 list of pdbs: 695 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 695 Zimmer Variants: 695 chr6:29634003:G:C 396_163_55_V->L 695 chr6:29634012:A:G 396_172_58_I->V 695 HGMD Variants: 695 chr6:29634012:A:G 396_172_58_I->V 695 oneKG Variants: 695 chr6:29633997:A:T 396_157_53_I->F 0.000599042 695 chr6:29634003:G:C 396_163_55_V->L 0.180511 695 chr6:29634012:A:G 396_172_58_I->V 0.026757 695 chr6:29634028:A:C 396_188_63_Q->P 0.000199681 695 chr6:29635693:G:A 396_236_79_R->Q 0.000399361 695 chr6:29638101:T:A,C 396_288_96_F->L 0.00279553 695 chr6:29638163:G:A 396_350_117_R->Q 0.000199681 695 na12878 Variants: 695 chr6:29634012:A:G 396_172_58_I->V 695 snyder Variants: 695 chr6:29634012:A:G 396_172_58_I->V 696 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000396704 gene_Name: MOG_HUMAN 696 list of pdbs: 696 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 696 Zimmer Variants: 696 chr6:29634003:G:C 675_511_171_V->L 696 chr6:29634012:A:G 675_520_174_I->V 696 HGMD Variants: 696 chr6:29627405:C:G 675_398_133_S->C 696 chr6:29634012:A:G 675_520_174_I->V 696 oneKG Variants: 696 chr6:29627168:G:C 675_161_54_R->P 0.000399361 696 chr6:29627170:A:G 675_163_55_I->V 0.000199681 696 chr6:29627203:G:A 675_196_66_V->M 0.000199681 696 chr6:29627218:C:G 675_211_71_P->A 0.000199681 696 chr6:29627222:C:A,T 675_215_72_P->H 0.0163738 696 chr6:29627222:C:A,T 675_215_72_P->L 0.0163738 696 chr6:29627290:C:G 675_283_95_R->G 0.000399361 696 chr6:29627396:G:A 675_389_130_R->Q 0.000199681 696 chr6:29633997:A:T 675_505_169_I->F 0.000599042 696 chr6:29634003:G:C 675_511_171_V->L 0.180511 696 chr6:29634012:A:G 675_520_174_I->V 0.026757 696 chr6:29634028:A:C 675_536_179_Q->P 0.000199681 696 chr6:29635693:G:A 675_584_195_R->Q 0.000399361 696 chr6:29637986:C:T 675_628_210_P->S 0.00159744 696 na12878 Variants: 696 chr6:29634012:A:G 675_520_174_I->V 696 snyder Variants: 696 chr6:29634012:A:G 675_520_174_I->V 697 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000490427 gene_Name: MOG_HUMAN 697 list of pdbs: 697 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 697 Zimmer Variants: 697 chr6:29634003:G:C 327_163_55_V->L 697 chr6:29634012:A:G 327_172_58_I->V 697 HGMD Variants: 697 chr6:29634012:A:G 327_172_58_I->V 697 oneKG Variants: 697 chr6:29633997:A:T 327_157_53_I->F 0.000599042 697 chr6:29634003:G:C 327_163_55_V->L 0.180511 697 chr6:29634012:A:G 327_172_58_I->V 0.026757 697 chr6:29634028:A:C 327_188_63_Q->P 0.000199681 697 chr6:29635693:G:A 327_236_79_R->Q 0.000399361 697 chr6:29637986:C:T 327_280_94_P->S 0.00159744 697 na12878 Variants: 697 chr6:29634012:A:G 327_172_58_I->V 697 snyder Variants: 697 chr6:29634012:A:G 327_172_58_I->V 698 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000376891 gene_Name: MOG_HUMAN 698 list of pdbs: 698 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 698 Zimmer Variants: 698 chr6:29634003:G:C 621_511_171_V->L 698 chr6:29634012:A:G 621_520_174_I->V 698 HGMD Variants: 698 chr6:29627405:C:G 621_398_133_S->C 698 chr6:29634012:A:G 621_520_174_I->V 698 oneKG Variants: 698 chr6:29627168:G:C 621_161_54_R->P 0.000399361 698 chr6:29627170:A:G 621_163_55_I->V 0.000199681 698 chr6:29627203:G:A 621_196_66_V->M 0.000199681 698 chr6:29627218:C:G 621_211_71_P->A 0.000199681 698 chr6:29627222:C:A,T 621_215_72_P->H 0.0163738 698 chr6:29627222:C:A,T 621_215_72_P->L 0.0163738 698 chr6:29627290:C:G 621_283_95_R->G 0.000399361 698 chr6:29627396:G:A 621_389_130_R->Q 0.000199681 698 chr6:29633997:A:T 621_505_169_I->F 0.000599042 698 chr6:29634003:G:C 621_511_171_V->L 0.180511 698 chr6:29634012:A:G 621_520_174_I->V 0.026757 698 chr6:29634028:A:C 621_536_179_Q->P 0.000199681 698 chr6:29635693:G:A 621_584_195_R->Q 0.000399361 698 na12878 Variants: 698 chr6:29634012:A:G 621_520_174_I->V 698 snyder Variants: 698 chr6:29634012:A:G 621_520_174_I->V 699 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000376898 gene_Name: MOG_HUMAN 699 list of pdbs: 699 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 699 Zimmer Variants: 699 chr6:29634003:G:C 759_511_171_V->L 699 chr6:29634012:A:G 759_520_174_I->V 699 HGMD Variants: 699 chr6:29627405:C:G 759_398_133_S->C 699 chr6:29634012:A:G 759_520_174_I->V 699 oneKG Variants: 699 chr6:29627168:G:C 759_161_54_R->P 0.000399361 699 chr6:29627170:A:G 759_163_55_I->V 0.000199681 699 chr6:29627203:G:A 759_196_66_V->M 0.000199681 699 chr6:29627218:C:G 759_211_71_P->A 0.000199681 699 chr6:29627222:C:A,T 759_215_72_P->H 0.0163738 699 chr6:29627222:C:A,T 759_215_72_P->L 0.0163738 699 chr6:29627290:C:G 759_283_95_R->G 0.000399361 699 chr6:29627396:G:A 759_389_130_R->Q 0.000199681 699 chr6:29633997:A:T 759_505_169_I->F 0.000599042 699 chr6:29634003:G:C 759_511_171_V->L 0.180511 699 chr6:29634012:A:G 759_520_174_I->V 0.026757 699 chr6:29634028:A:C 759_536_179_Q->P 0.000199681 699 chr6:29635693:G:A 759_584_195_R->Q 0.000399361 699 chr6:29638101:T:A,C 759_636_212_F->L 0.00279553 699 chr6:29638163:G:A 759_698_233_R->Q 0.000199681 699 na12878 Variants: 699 chr6:29634012:A:G 759_520_174_I->V 699 snyder Variants: 699 chr6:29634012:A:G 759_520_174_I->V 700 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000396701 gene_Name: MOG_HUMAN 700 list of pdbs: 700 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 700 Zimmer Variants: 700 chr6:29634003:G:C 642_511_171_V->L 700 chr6:29634012:A:G 642_520_174_I->V 700 HGMD Variants: 700 chr6:29627405:C:G 642_398_133_S->C 700 chr6:29634012:A:G 642_520_174_I->V 700 oneKG Variants: 700 chr6:29627168:G:C 642_161_54_R->P 0.000399361 700 chr6:29627170:A:G 642_163_55_I->V 0.000199681 700 chr6:29627203:G:A 642_196_66_V->M 0.000199681 700 chr6:29627218:C:G 642_211_71_P->A 0.000199681 700 chr6:29627222:C:A,T 642_215_72_P->H 0.0163738 700 chr6:29627222:C:A,T 642_215_72_P->L 0.0163738 700 chr6:29627290:C:G 642_283_95_R->G 0.000399361 700 chr6:29627396:G:A 642_389_130_R->Q 0.000199681 700 chr6:29633997:A:T 642_505_169_I->F 0.000599042 700 chr6:29634003:G:C 642_511_171_V->L 0.180511 700 chr6:29634012:A:G 642_520_174_I->V 0.026757 700 chr6:29634028:A:C 642_536_179_Q->P 0.000199681 700 chr6:29635693:G:A 642_584_195_R->Q 0.000399361 700 na12878 Variants: 700 chr6:29634012:A:G 642_520_174_I->V 700 snyder Variants: 700 chr6:29634012:A:G 642_520_174_I->V 701 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000494692 gene_Name: MOG_HUMAN 701 list of pdbs: 701 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 701 Zimmer Variants: 701 chr6:29634003:G:C 690_511_171_V->L 701 chr6:29634012:A:G 690_520_174_I->V 701 HGMD Variants: 701 chr6:29627405:C:G 690_398_133_S->C 701 chr6:29634012:A:G 690_520_174_I->V 701 oneKG Variants: 701 chr6:29627168:G:C 690_161_54_R->P 0.000399361 701 chr6:29627170:A:G 690_163_55_I->V 0.000199681 701 chr6:29627203:G:A 690_196_66_V->M 0.000199681 701 chr6:29627218:C:G 690_211_71_P->A 0.000199681 701 chr6:29627222:C:A,T 690_215_72_P->H 0.0163738 701 chr6:29627222:C:A,T 690_215_72_P->L 0.0163738 701 chr6:29627290:C:G 690_283_95_R->G 0.000399361 701 chr6:29627396:G:A 690_389_130_R->Q 0.000199681 701 chr6:29633997:A:T 690_505_169_I->F 0.000599042 701 chr6:29634003:G:C 690_511_171_V->L 0.180511 701 chr6:29634012:A:G 690_520_174_I->V 0.026757 701 chr6:29634028:A:C 690_536_179_Q->P 0.000199681 701 chr6:29635693:G:A 690_584_195_R->Q 0.000399361 701 chr6:29637986:C:T 690_628_210_P->S 0.00159744 701 na12878 Variants: 701 chr6:29634012:A:G 690_520_174_I->V 701 snyder Variants: 701 chr6:29634012:A:G 690_520_174_I->V 702 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000204655_ENST00000431798 gene_Name: MOG_HUMAN 702 list of pdbs: 702 1Q70 pdb_description: 04-Nov-03 Theoret model Homology model of the extracellular domain of human myelin oligodendrocyte glycoprotein 702 Zimmer Variants: 702 chr6:29634003:G:C 627_511_171_V->L 702 chr6:29634012:A:G 627_520_174_I->V 702 HGMD Variants: 702 chr6:29627405:C:G 627_398_133_S->C 702 chr6:29634012:A:G 627_520_174_I->V 702 oneKG Variants: 702 chr6:29627168:G:C 627_161_54_R->P 0.000399361 702 chr6:29627170:A:G 627_163_55_I->V 0.000199681 702 chr6:29627203:G:A 627_196_66_V->M 0.000199681 702 chr6:29627218:C:G 627_211_71_P->A 0.000199681 702 chr6:29627222:C:A,T 627_215_72_P->H 0.0163738 702 chr6:29627222:C:A,T 627_215_72_P->L 0.0163738 702 chr6:29627290:C:G 627_283_95_R->G 0.000399361 702 chr6:29627396:G:A 627_389_130_R->Q 0.000199681 702 chr6:29633997:A:T 627_505_169_I->F 0.000599042 702 chr6:29634003:G:C 627_511_171_V->L 0.180511 702 chr6:29634012:A:G 627_520_174_I->V 0.026757 702 chr6:29634028:A:C 627_536_179_Q->P 0.000199681 702 chr6:29635693:G:A 627_584_195_R->Q 0.000399361 702 na12878 Variants: 702 chr6:29634012:A:G 627_520_174_I->V 702 snyder Variants: 702 chr6:29634012:A:G 627_520_174_I->V 703 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000044090_ENST00000265348 gene_Name: CUL7_HUMAN 703 list of pdbs: 703 2JNG pdb_description: 27-Feb-07 NMR 20 Solution structure of the cul7-cph domain from homo sapiens; northeast structural genomics consortium target ht1. 703 Zimmer Variants: 703 chr6:43014299:T:C 5097_2438_813_Q->R;GENE=CUL7;CDSS=1 703 HGMD Variants: 703 chr6:43006061:G:A 5097_4717_1573_R->* 703 chr6:43006687:G:A 5097_4333_1445_R->* 703 chr6:43006702:G:A 5097_4318_1440_R->* 703 chr6:43008002:G:A 5097_4186_1396_R->* 703 chr6:43008321:G:A 5097_3970_1324_Q->* 703 chr6:43008354:C:A 5097_3937_1313_E->* 703 chr6:43008384:G:A 5097_3907_1303_Q->* 703 chr6:43010647:G:A 5097_3538_1180_Q->* 703 chr6:43013015:C:T 5097_2988_996_W->* 703 chr6:43013780:G:A 5097_2710_904_R->* 703 chr6:43014042:A:C 5097_2592_864_Y->* 703 chr6:43014773:G:A 5097_2242_748_Q->* 703 chr6:43015943:C:T 5097_2112_704_W->* 703 chr6:43015944:C:T 5097_2111_704_W->* 703 chr6:43018032:G:C 5097_1338_446_Y->* 703 chr6:43018795:G:A 5097_1144_382_R->* 703 chr6:43020324:C:T 5097_203_68_W->* 703 chr6:43006015:A:G 5097_4763_1588_L->P 703 chr6:43006171:G:A 5097_4607_1536_S->L 703 chr6:43006614:T:C 5097_4406_1469_Q->R 703 chr6:43006629:T:G 5097_4391_1464_H->P 703 chr6:43006678:A:G 5097_4342_1448_W->R 703 chr6:43010820:C:T 5097_3454_1152_E->K 703 chr6:43012621:A:C 5097_3041_1014_L->R 703 chr6:43013028:C:G 5097_2975_992_R->P 703 chr6:43013765:C:T 5097_2725_909_G->R 703 chr6:43014053:G:A 5097_2581_861_P->S 703 chr6:43019016:A:C 5097_923_308_V->G 703 chr6:43020248:C:A 5097_279_93_Q->H 703 chr6:43020525:A:G 5097_2_1_M->T 703 oneKG Variants: 703 chr6:43006687:G:A 5097_4333_1445_R->* 0.000199681 703 chr6:43010894:C:T 5097_3380_1127_W->* 0.000199681 703 chr6:43005430:C:T 5097_5093_1698_R->Q 0.000199681 703 chr6:43005443:A:C 5097_5080_1694_F->V 0.000199681 703 chr6:43005518:G:C 5097_5005_1669_P->A 0.000199681 703 chr6:43005551:C:T 5097_4972_1658_E->K 0.000199681 703 chr6:43005568:A:G 5097_4955_1652_V->A 0.000199681 703 chr6:43005625:G:A 5097_4898_1633_T->M 0.00678914 703 chr6:43005635:C:T 5097_4888_1630_G->S 0.000199681 703 chr6:43005700:C:T 5097_4823_1608_S->N 0.000199681 703 chr6:43006016:G:T 5097_4762_1588_L->I 0.00559105 703 chr6:43006109:C:T 5097_4669_1557_G->S 0.000199681 703 chr6:43006153:C:T 5097_4625_1542_R->Q 0.000399361 703 chr6:43006405:G:A 5097_4466_1489_A->V 0.000399361 703 chr6:43006408:A:G 5097_4463_1488_L->P 0.00339457 703 chr6:43007927:T:C 5097_4261_1421_T->A 0.000599042 703 chr6:43008002:G:C 5097_4186_1396_R->G 0.000199681 703 chr6:43008049:A:G 5097_4139_1380_L->P 0.000199681 703 chr6:43008107:C:T 5097_4081_1361_A->T 0.000199681 703 chr6:43008119:C:T 5097_4069_1357_E->K 0.000798722 703 chr6:43008158:G:A 5097_4030_1344_L->F 0.000199681 703 chr6:43008456:C:G 5097_3835_1279_V->L 0.000199681 703 chr6:43008482:T:C 5097_3809_1270_H->R 0.000199681 703 chr6:43008794:C:T 5097_3665_1222_R->Q 0.000199681 703 chr6:43008795:G:A 5097_3664_1222_R->W 0.000199681 703 chr6:43010637:C:A 5097_3548_1183_S->I 0.000199681 703 chr6:43010661:T:A 5097_3524_1175_H->L 0.000199681 703 chr6:43010674:G:A 5097_3511_1171_R->C 0.000199681 703 chr6:43010695:G:A 5097_3490_1164_R->W 0.000599042 703 chr6:43010721:A:T 5097_3464_1155_V->E 0.000199681 703 chr6:43010858:A:G 5097_3416_1139_I->T 0.00319489 703 chr6:43010916:C:T 5097_3358_1120_G->S 0.000599042 703 chr6:43011192:G:A 5097_3349_1117_R->W 0.000199681 703 chr6:43011216:G:C 5097_3325_1109_P->A 0.000199681 703 chr6:43011257:C:T 5097_3284_1095_R->H 0.000599042 703 chr6:43011324:G:C 5097_3217_1073_L->V 0.000199681 703 chr6:43012532:C:T 5097_3130_1044_E->K 0.000199681 703 chr6:43012565:C:T 5097_3097_1033_E->K 0.000199681 703 chr6:43012582:C:T 5097_3080_1027_R->H 0.000199681 703 chr6:43012583:G:A 5097_3079_1027_R->C 0.000599042 703 chr6:43012613:C:T 5097_3049_1017_A->T 0.000798722 703 chr6:43012616:C:T 5097_3046_1016_G->S 0.000199681 703 chr6:43013055:C:T 5097_2948_983_R->H 0.000199681 703 chr6:43013409:C:T 5097_2778_926_M->I 0.000199681 703 chr6:43013735:C:G 5097_2755_919_E->Q 0.000199681 703 chr6:43013785:G:A 5097_2705_902_P->L 0.000199681 703 chr6:43013797:G:C 5097_2693_898_S->W 0.000199681 703 chr6:43013989:C:T 5097_2645_882_R->Q 0.00259585 703 chr6:43014020:C:T 5097_2614_872_G->S 0.000798722 703 chr6:43014022:G:A 5097_2612_871_A->V 0.0171725 703 chr6:43014031:T:C 5097_2603_868_N->S 0.00239617 703 chr6:43014053:G:A 5097_2581_861_P->S 0.000199681 703 chr6:43014071:T:C 5097_2563_855_K->E 0.000199681 703 chr6:43014079:C:T 5097_2555_852_R->Q 0.0231629 703 chr6:43014137:C:T 5097_2497_833_V->M 0.000199681 703 chr6:43014299:T:C 5097_2438_813_Q->R 0.009784 703 chr6:43014697:C:T 5097_2318_773_R->Q 0.000199681 703 chr6:43014755:C:T 5097_2260_754_A->T 0.000199681 703 chr6:43014785:C:T 5097_2230_744_V->M 0.000199681 703 chr6:43014814:C:T 5097_2201_734_R->H 0.000199681 703 chr6:43014815:G:A 5097_2200_734_R->C 0.000199681 703 chr6:43016106:G:A 5097_2027_676_P->L 0.000798722 703 chr6:43016116:G:C 5097_2017_673_L->V 0.000199681 703 chr6:43016151:C:T 5097_1982_661_R->Q 0.00139776 703 chr6:43016152:G:A 5097_1981_661_R->W 0.000199681 703 chr6:43016214:T:A 5097_1919_640_Q->L 0.000199681 703 chr6:43016266:G:A 5097_1867_623_R->C 0.000798722 703 chr6:43016274:G:A 5097_1859_620_P->L 0.00119808 703 chr6:43016278:T:G 5097_1855_619_T->P 0.000199681 703 chr6:43016287:T:C 5097_1846_616_S->G 0.00978435 703 chr6:43017145:C:G 5097_1825_609_A->P 0.000199681 703 chr6:43017147:T:C 5097_1823_608_E->G 0.000798722 703 chr6:43017190:C:T 5097_1780_594_A->T 0.00119808 703 chr6:43017367:C:T 5097_1603_535_V->M 0.000199681 703 chr6:43017385:T:C 5097_1585_529_I->V 0.000199681 703 chr6:43017400:T:C 5097_1570_524_I->V 0.000399361 703 chr6:43017728:C:A 5097_1542_514_Q->H 0.00339457 703 chr6:43017813:C:T 5097_1457_486_C->Y 0.000399361 703 chr6:43017858:T:C 5097_1412_471_Y->C 0.000399361 703 chr6:43018039:T:A 5097_1331_444_D->V 0.000199681 703 chr6:43018049:C:G 5097_1321_441_V->L 0.000199681 703 chr6:43018737:C:T 5097_1202_401_R->Q 0.0113818 703 chr6:43018756:C:T 5097_1183_395_G->R 0.000199681 703 chr6:43018816:C:T 5097_1123_375_D->N 0.000199681 703 chr6:43018864:G:A 5097_1075_359_P->S 0.000199681 703 chr6:43018867:G:A 5097_1072_358_R->C 0.000199681 703 chr6:43018872:C:T 5097_1067_356_R->H 0.00119808 703 chr6:43018909:C:T 5097_1030_344_A->T 0.00359425 703 chr6:43018912:G:A 5097_1027_343_P->S 0.0111821 703 chr6:43018995:T:C 5097_944_315_Q->R 0.000599042 703 chr6:43019148:A:C 5097_791_264_L->R 0.000599042 703 chr6:43019396:G:A 5097_686_229_T->M 0.000199681 703 chr6:43019466:G:C 5097_616_206_Q->E 0.000199681 703 chr6:43019994:C:A 5097_533_178_R->L 0.000798722 703 chr6:43020018:A:C 5097_509_170_L->W 0.000199681 703 chr6:43020063:C:T 5097_464_155_G->E 0.000399361 703 chr6:43020204:T:C 5097_323_108_E->G 0.000199681 703 chr6:43020233:C:G 5097_294_98_E->D 0.000199681 703 chr6:43020259:C:T 5097_268_90_G->R 0.000199681 703 chr6:43020334:T:C 5097_193_65_I->V 0.000199681 703 chr6:43020387:C:T 5097_140_47_R->H 0.000199681 703 chr6:43020390:C:T 5097_137_46_R->Q 0.000399361 703 chr6:43020391:G:A 5097_136_46_R->W 0.000599042 703 chr6:43020502:C:G 5097_25_9_E->Q 0.000399361 703 na12878 Variants: 703 chr6:43014299:T:C 5097_2438_813_Q->R 703 snyder Variants: 703 chr6:43014299:T:C 5097_2438_813_Q->R 704 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000044090_ENST00000535468 gene_Name: CUL7_HUMAN 704 list of pdbs: 704 2JNG pdb_description: 27-Feb-07 NMR 20 Solution structure of the cul7-cph domain from homo sapiens; northeast structural genomics consortium target ht1. 704 Zimmer Variants: 704 chr6:43014299:T:C 5349_2690_897_Q->R 704 HGMD Variants: 704 chr6:43006061:G:A 5349_4969_1657_R->* 704 chr6:43006687:G:A 5349_4585_1529_R->* 704 chr6:43006702:G:A 5349_4570_1524_R->* 704 chr6:43008002:G:A 5349_4438_1480_R->* 704 chr6:43008321:G:A 5349_4222_1408_Q->* 704 chr6:43008354:C:A 5349_4189_1397_E->* 704 chr6:43008384:G:A 5349_4159_1387_Q->* 704 chr6:43010647:G:A 5349_3790_1264_Q->* 704 chr6:43013015:C:T 5349_3240_1080_W->* 704 chr6:43013780:G:A 5349_2962_988_R->* 704 chr6:43014042:A:C 5349_2844_948_Y->* 704 chr6:43014773:G:A 5349_2494_832_Q->* 704 chr6:43015943:C:T 5349_2364_788_W->* 704 chr6:43015944:C:T 5349_2363_788_W->* 704 chr6:43018032:G:C 5349_1590_530_Y->* 704 chr6:43018795:G:A 5349_1396_466_R->* 704 chr6:43020324:C:T 5349_359_120_W->* 704 chr6:43006015:A:G 5349_5015_1672_L->P 704 chr6:43006171:G:A 5349_4859_1620_S->L 704 chr6:43006614:T:C 5349_4658_1553_Q->R 704 chr6:43006629:T:G 5349_4643_1548_H->P 704 chr6:43006678:A:G 5349_4594_1532_W->R 704 chr6:43010820:C:T 5349_3706_1236_E->K 704 chr6:43012621:A:C 5349_3293_1098_L->R 704 chr6:43013028:C:G 5349_3227_1076_R->P 704 chr6:43013765:C:T 5349_2977_993_G->R 704 chr6:43014053:G:A 5349_2833_945_P->S 704 chr6:43019016:A:C 5349_1175_392_V->G 704 chr6:43020248:C:A 5349_435_145_Q->H 704 chr6:43020525:A:G 5349_158_53_M->T 704 oneKG Variants: 704 chr6:43006687:G:A 5349_4585_1529_R->* 0.000199681 704 chr6:43010894:C:T 5349_3632_1211_W->* 0.000199681 704 chr6:43005430:C:T 5349_5345_1782_R->Q 0.000199681 704 chr6:43005443:A:C 5349_5332_1778_F->V 0.000199681 704 chr6:43005518:G:C 5349_5257_1753_P->A 0.000199681 704 chr6:43005551:C:T 5349_5224_1742_E->K 0.000199681 704 chr6:43005568:A:G 5349_5207_1736_V->A 0.000199681 704 chr6:43005625:G:A 5349_5150_1717_T->M 0.00678914 704 chr6:43005635:C:T 5349_5140_1714_G->S 0.000199681 704 chr6:43005700:C:T 5349_5075_1692_S->N 0.000199681 704 chr6:43006016:G:T 5349_5014_1672_L->I 0.00559105 704 chr6:43006109:C:T 5349_4921_1641_G->S 0.000199681 704 chr6:43006153:C:T 5349_4877_1626_R->Q 0.000399361 704 chr6:43006405:G:A 5349_4718_1573_A->V 0.000399361 704 chr6:43006408:A:G 5349_4715_1572_L->P 0.00339457 704 chr6:43007927:T:C 5349_4513_1505_T->A 0.000599042 704 chr6:43008002:G:C 5349_4438_1480_R->G 0.000199681 704 chr6:43008049:A:G 5349_4391_1464_L->P 0.000199681 704 chr6:43008107:C:T 5349_4333_1445_A->T 0.000199681 704 chr6:43008119:C:T 5349_4321_1441_E->K 0.000798722 704 chr6:43008158:G:A 5349_4282_1428_L->F 0.000199681 704 chr6:43008456:C:G 5349_4087_1363_V->L 0.000199681 704 chr6:43008482:T:C 5349_4061_1354_H->R 0.000199681 704 chr6:43008794:C:T 5349_3917_1306_R->Q 0.000199681 704 chr6:43008795:G:A 5349_3916_1306_R->W 0.000199681 704 chr6:43010637:C:A 5349_3800_1267_S->I 0.000199681 704 chr6:43010661:T:A 5349_3776_1259_H->L 0.000199681 704 chr6:43010674:G:A 5349_3763_1255_R->C 0.000199681 704 chr6:43010695:G:A 5349_3742_1248_R->W 0.000599042 704 chr6:43010721:A:T 5349_3716_1239_V->E 0.000199681 704 chr6:43010858:A:G 5349_3668_1223_I->T 0.00319489 704 chr6:43010916:C:T 5349_3610_1204_G->S 0.000599042 704 chr6:43011192:G:A 5349_3601_1201_R->W 0.000199681 704 chr6:43011216:G:C 5349_3577_1193_P->A 0.000199681 704 chr6:43011257:C:T 5349_3536_1179_R->H 0.000599042 704 chr6:43011324:G:C 5349_3469_1157_L->V 0.000199681 704 chr6:43012532:C:T 5349_3382_1128_E->K 0.000199681 704 chr6:43012565:C:T 5349_3349_1117_E->K 0.000199681 704 chr6:43012582:C:T 5349_3332_1111_R->H 0.000199681 704 chr6:43012583:G:A 5349_3331_1111_R->C 0.000599042 704 chr6:43012613:C:T 5349_3301_1101_A->T 0.000798722 704 chr6:43012616:C:T 5349_3298_1100_G->S 0.000199681 704 chr6:43013055:C:T 5349_3200_1067_R->H 0.000199681 704 chr6:43013409:C:T 5349_3030_1010_M->I 0.000199681 704 chr6:43013735:C:G 5349_3007_1003_E->Q 0.000199681 704 chr6:43013785:G:A 5349_2957_986_P->L 0.000199681 704 chr6:43013797:G:C 5349_2945_982_S->W 0.000199681 704 chr6:43013989:C:T 5349_2897_966_R->Q 0.00259585 704 chr6:43014020:C:T 5349_2866_956_G->S 0.000798722 704 chr6:43014022:G:A 5349_2864_955_A->V 0.0171725 704 chr6:43014031:T:C 5349_2855_952_N->S 0.00239617 704 chr6:43014053:G:A 5349_2833_945_P->S 0.000199681 704 chr6:43014071:T:C 5349_2815_939_K->E 0.000199681 704 chr6:43014079:C:T 5349_2807_936_R->Q 0.0231629 704 chr6:43014137:C:T 5349_2749_917_V->M 0.000199681 704 chr6:43014299:T:C 5349_2690_897_Q->R 0.009784 704 chr6:43014697:C:T 5349_2570_857_R->Q 0.000199681 704 chr6:43014755:C:T 5349_2512_838_A->T 0.000199681 704 chr6:43014785:C:T 5349_2482_828_V->M 0.000199681 704 chr6:43014814:C:T 5349_2453_818_R->H 0.000199681 704 chr6:43014815:G:A 5349_2452_818_R->C 0.000199681 704 chr6:43016106:G:A 5349_2279_760_P->L 0.000798722 704 chr6:43016116:G:C 5349_2269_757_L->V 0.000199681 704 chr6:43016151:C:T 5349_2234_745_R->Q 0.00139776 704 chr6:43016152:G:A 5349_2233_745_R->W 0.000199681 704 chr6:43016214:T:A 5349_2171_724_Q->L 0.000199681 704 chr6:43016266:G:A 5349_2119_707_R->C 0.000798722 704 chr6:43016274:G:A 5349_2111_704_P->L 0.00119808 704 chr6:43016278:T:G 5349_2107_703_T->P 0.000199681 704 chr6:43016287:T:C 5349_2098_700_S->G 0.00978435 704 chr6:43017145:C:G 5349_2077_693_A->P 0.000199681 704 chr6:43017147:T:C 5349_2075_692_E->G 0.000798722 704 chr6:43017190:C:T 5349_2032_678_A->T 0.00119808 704 chr6:43017367:C:T 5349_1855_619_V->M 0.000199681 704 chr6:43017385:T:C 5349_1837_613_I->V 0.000199681 704 chr6:43017400:T:C 5349_1822_608_I->V 0.000399361 704 chr6:43017728:C:A 5349_1794_598_Q->H 0.00339457 704 chr6:43017813:C:T 5349_1709_570_C->Y 0.000399361 704 chr6:43017858:T:C 5349_1664_555_Y->C 0.000399361 704 chr6:43018039:T:A 5349_1583_528_D->V 0.000199681 704 chr6:43018049:C:G 5349_1573_525_V->L 0.000199681 704 chr6:43018737:C:T 5349_1454_485_R->Q 0.0113818 704 chr6:43018756:C:T 5349_1435_479_G->R 0.000199681 704 chr6:43018816:C:T 5349_1375_459_D->N 0.000199681 704 chr6:43018864:G:A 5349_1327_443_P->S 0.000199681 704 chr6:43018867:G:A 5349_1324_442_R->C 0.000199681 704 chr6:43018872:C:T 5349_1319_440_R->H 0.00119808 704 chr6:43018909:C:T 5349_1282_428_A->T 0.00359425 704 chr6:43018912:G:A 5349_1279_427_P->S 0.0111821 704 chr6:43018995:T:C 5349_1196_399_Q->R 0.000599042 704 chr6:43019148:A:C 5349_1043_348_L->R 0.000599042 704 chr6:43019396:G:A 5349_938_313_T->M 0.000199681 704 chr6:43019466:G:C 5349_868_290_Q->E 0.000199681 704 chr6:43019890:C:T 5349_793_265_D->N 0.000199681 704 chr6:43019994:C:A 5349_689_230_R->L 0.000798722 704 chr6:43020018:A:C 5349_665_222_L->W 0.000199681 704 chr6:43020063:C:T 5349_620_207_G->E 0.000399361 704 chr6:43020204:T:C 5349_479_160_E->G 0.000199681 704 chr6:43020233:C:G 5349_450_150_E->D 0.000199681 704 chr6:43020259:C:T 5349_424_142_G->R 0.000199681 704 chr6:43020334:T:C 5349_349_117_I->V 0.000199681 704 chr6:43020387:C:T 5349_296_99_R->H 0.000199681 704 chr6:43020390:C:T 5349_293_98_R->Q 0.000399361 704 chr6:43020391:G:A 5349_292_98_R->W 0.000599042 704 chr6:43020502:C:G 5349_181_61_E->Q 0.000399361 704 chr6:43021451:G:C 5349_146_49_P->R 0.000199681 704 chr6:43021461:A:C 5349_136_46_S->A 0.000399361 704 chr6:43021518:C:T 5349_79_27_G->R 0.000199681 704 chr6:43021574:G:A 5349_23_8_A->V 0.000199681 704 na12878 Variants: 704 chr6:43014299:T:C 5349_2690_897_Q->R 704 snyder Variants: 704 chr6:43014299:T:C 5349_2690_897_Q->R 705 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000244067_ENST00000493422 gene_Name: GSTA2_HUMAN 705 list of pdbs: 705 4ACS pdb_description: 28-Dec-11 X-ray 2.100 Crystal structure of mutant gst a2-2 with enhanced catalytic efficiency with azathioprine 705 2WJU pdb_description: 09-Jun-09 X-ray 2.300 Glutathione transferase a2-2 in complex with glutathione 705 2VCT pdb_description: 28-Oct-08 X-ray 2.100 Glutathione transferase a2-2 in complex with delta-4- andostrene-3-17-dione 705 1AGS pdb_description: 10-Jul-95 X-ray 2.500 A surface mutant (g82r) of a human alpha-glutathione s- transferase shows decreased thermal stability and a new mode of molecular association in the crystal 705 Zimmer Variants: 705 chr6:52617731:C:G 669_335_112_S->T;GENE=GSTA2;CDSS=1 705 HGMD Variants: 705 chr6:52617731:C:G 669_335_112_S->T 705 chr6:52617738:G:A 669_328_110_P->S 705 oneKG Variants: 705 chr6:52619767:A:T 669_246_82_Y->* 0.000399361 705 chr6:52622661:C:A 669_85_29_E->* 0.000199681 705 chr6:52615415:T:G 669_629_210_E->A 0.264776 705 chr6:52616382:A:C 669_539_180_L->R 0.000199681 705 chr6:52616401:G:C 669_520_174_L->V 0.000199681 705 chr6:52616457:C:T 669_464_155_R->Q 0.00259585 705 chr6:52616458:G:A 669_463_155_R->W 0.000798722 705 chr6:52616476:C:G 669_445_149_V->L 0.000199681 705 chr6:52617667:G:C 669_399_133_F->L 0.000199681 705 chr6:52617675:G:A 669_391_131_R->C 0.000199681 705 chr6:52617692:T:G 669_374_125_Q->P 0.000199681 705 chr6:52617731:C:G 669_335_112_S->T 0.463658 705 chr6:52617738:G:A 669_328_110_P->S 0.0706869 705 chr6:52619747:T:C 669_266_89_K->R 0.000599042 705 chr6:52619786:G:T 669_227_76_A->D 0.000199681 705 chr6:52619842:C:A 669_171_57_M->I 0.000399361 705 chr6:52619850:C:A 669_163_55_V->L 0.000399361 705 chr6:52621070:T:C 669_125_42_D->G 0.000199681 705 chr6:52621080:C:T 669_115_39_E->K 0.000199681 705 chr6:52621101:C:T 669_94_32_E->K 0.00359425 705 chr6:52622708:C:T 669_38_13_R->Q 0.000399361 705 chr6:52622724:G:T 669_22_8_H->N 0.000399361 705 na12878 Variants: 705 chr6:52617731:C:G 669_335_112_S->T 705 snyder Variants: 705 chr6:52617731:C:G 669_335_112_S->T 706 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132437_ENST00000357936 gene_Name: DDC_HUMAN 706 list of pdbs: 706 3RCH pdb_description: 19-Oct-11 X-ray 2.800 Crystal structure of human aromatic l-amino acid decarboxyla in the open conformation with llp and plp bound to chain-a b respectively 706 3RBL pdb_description: 19-Oct-11 X-ray 3.240 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 706 3RBF pdb_description: 19-Oct-11 X-ray 2.900 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 706 Zimmer Variants: 706 chr7:50611735:T:C 1443_49_17_M->V 706 HGMD Variants: 706 chr7:50611765:G:A 1443_19_7_R->* 706 chr7:50530987:C:G 1443_1385_462_R->P 706 chr7:50530993:A:C 1443_1379_460_V->G 706 chr7:50531015:G:A 1443_1357_453_R->C 706 chr7:50531032:C:T 1443_1340_447_R->H 706 chr7:50531060:A:G 1443_1312_438_C->R 706 chr7:50534920:G:A 1443_1234_412_R->W 706 chr7:50534932:G:T 1443_1222_408_L->I 706 chr7:50537838:C:T 1443_1073_358_R->H 706 chr7:50544323:C:T 1443_1040_347_R->Q 706 chr7:50563067:A:G 1443_925_309_F->L 706 chr7:50566869:G:A 1443_853_285_R->W 706 chr7:50566899:C:T 1443_823_275_A->T 706 chr7:50571723:G:A 1443_749_250_S->F 706 chr7:50595839:A:G 1443_710_237_F->S 706 chr7:50595884:A:G 1443_665_222_L->P 706 chr7:50595920:G:A 1443_629_210_P->L 706 chr7:50596998:G:A 1443_478_160_R->W 706 chr7:50597030:C:G 1443_446_149_S->T 706 chr7:50597037:T:G 1443_439_147_S->R 706 chr7:50605626:C:T 1443_367_123_G->R 706 chr7:50605664:G:T 1443_329_110_A->E 706 chr7:50607624:C:T 1443_304_102_G->S 706 chr7:50607656:G:A 1443_272_91_A->V 706 chr7:50607668:G:A 1443_260_87_P->L 706 chr7:50607686:G:A 1443_242_81_P->L 706 chr7:50607692:T:C 1443_236_79_Y->C 706 chr7:50607714:G:A 1443_214_72_H->Y 706 chr7:50607720:G:A 1443_208_70_H->Y 706 chr7:50607722:G:A 1443_206_69_T->M 706 chr7:50611644:G:T 1443_140_47_P->H 706 chr7:50611671:A:G 1443_113_38_L->P 706 chr7:50611687:C:G 1443_97_33_V->L 706 chr7:50611711:C:T 1443_73_25_E->K 706 oneKG Variants: 706 chr7:50530937:T:C 1443_1435_479_R->G 0.000199681 706 chr7:50530987:C:T 1443_1385_462_R->Q 0.0521166 706 chr7:50534920:G:A 1443_1234_412_R->W 0.000199681 706 chr7:50534964:C:T 1443_1190_397_R->H 0.000199681 706 chr7:50534973:T:C 1443_1181_394_Q->R 0.000199681 706 chr7:50537776:G:A 1443_1135_379_R->C 0.000399361 706 chr7:50547559:A:T 1443_947_316_V->E 0.000199681 706 chr7:50566866:G:A 1443_856_286_H->Y 0.000199681 706 chr7:50566914:C:T 1443_808_270_V->I 0.000199681 706 chr7:50571755:C:A 1443_717_239_M->I 0.000798722 706 chr7:50595842:G:T 1443_707_236_P->H 0.000199681 706 chr7:50595845:A:G 1443_704_235_I->T 0.000199681 706 chr7:50595900:T:C 1443_649_217_M->V 0.0329473 706 chr7:50595920:G:A 1443_629_210_P->L 0.0127796 706 chr7:50596926:C:G 1443_550_184_V->L 0.00119808 706 chr7:50597000:G:A 1443_476_159_A->V 0.000199681 706 chr7:50597021:G:T 1443_455_152_T->N 0.000199681 706 chr7:50605620:T:A 1443_373_125_M->L 0.000199681 706 chr7:50611601:C:A 1443_183_61_E->D 0.00678914 706 chr7:50611735:T:C 1443_49_17_M->V 0.006789 706 chr7:50611764:C:T 1443_20_7_R->Q 0.000199681 706 na12878 Variants: 706 chr7:50595900:T:C 1443_649_217_M->V 706 chr7:50611735:T:C 1443_49_17_M->V 706 snyder Variants: 706 chr7:50611735:T:C 1443_49_17_M->V 707 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132437_ENST00000431062 gene_Name: DDC_HUMAN 707 list of pdbs: 707 3RCH pdb_description: 19-Oct-11 X-ray 2.800 Crystal structure of human aromatic l-amino acid decarboxyla in the open conformation with llp and plp bound to chain-a b respectively 707 3RBL pdb_description: 19-Oct-11 X-ray 3.240 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 707 3RBF pdb_description: 19-Oct-11 X-ray 2.900 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 707 Zimmer Variants: 707 chr7:50611735:T:C 1164_49_17_M->V 707 HGMD Variants: 707 chr7:50611765:G:A 1164_19_7_R->* 707 chr7:50530987:C:G 1164_1106_369_R->P 707 chr7:50530993:A:C 1164_1100_367_V->G 707 chr7:50531015:G:A 1164_1078_360_R->C 707 chr7:50531032:C:T 1164_1061_354_R->H 707 chr7:50531060:A:G 1164_1033_345_C->R 707 chr7:50534920:G:A 1164_955_319_R->W 707 chr7:50534932:G:T 1164_943_315_L->I 707 chr7:50537838:C:T 1164_794_265_R->H 707 chr7:50544323:C:T 1164_761_254_R->Q 707 chr7:50563067:A:G 1164_646_216_F->L 707 chr7:50566869:G:A 1164_574_192_R->W 707 chr7:50566899:C:T 1164_544_182_A->T 707 chr7:50571723:G:A 1164_470_157_S->F 707 chr7:50605626:C:T 1164_367_123_G->R 707 chr7:50605664:G:T 1164_329_110_A->E 707 chr7:50607624:C:T 1164_304_102_G->S 707 chr7:50607656:G:A 1164_272_91_A->V 707 chr7:50607668:G:A 1164_260_87_P->L 707 chr7:50607686:G:A 1164_242_81_P->L 707 chr7:50607692:T:C 1164_236_79_Y->C 707 chr7:50607714:G:A 1164_214_72_H->Y 707 chr7:50607720:G:A 1164_208_70_H->Y 707 chr7:50607722:G:A 1164_206_69_T->M 707 chr7:50611644:G:T 1164_140_47_P->H 707 chr7:50611671:A:G 1164_113_38_L->P 707 chr7:50611687:C:G 1164_97_33_V->L 707 chr7:50611711:C:T 1164_73_25_E->K 707 oneKG Variants: 707 chr7:50530937:T:C 1164_1156_386_R->G 0.000199681 707 chr7:50530987:C:T 1164_1106_369_R->Q 0.0521166 707 chr7:50534920:G:A 1164_955_319_R->W 0.000199681 707 chr7:50534964:C:T 1164_911_304_R->H 0.000199681 707 chr7:50534973:T:C 1164_902_301_Q->R 0.000199681 707 chr7:50537776:G:A 1164_856_286_R->C 0.000399361 707 chr7:50547559:A:T 1164_668_223_V->E 0.000199681 707 chr7:50566866:G:A 1164_577_193_H->Y 0.000199681 707 chr7:50566914:C:T 1164_529_177_V->I 0.000199681 707 chr7:50571755:C:A 1164_438_146_M->I 0.000798722 707 chr7:50605620:T:A 1164_373_125_M->L 0.000199681 707 chr7:50611601:C:A 1164_183_61_E->D 0.00678914 707 chr7:50611735:T:C 1164_49_17_M->V 0.006789 707 chr7:50611764:C:T 1164_20_7_R->Q 0.000199681 707 na12878 Variants: 707 chr7:50611735:T:C 1164_49_17_M->V 707 snyder Variants: 707 chr7:50611735:T:C 1164_49_17_M->V 708 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132437_ENST00000426377 gene_Name: DDC_HUMAN 708 list of pdbs: 708 3RCH pdb_description: 19-Oct-11 X-ray 2.800 Crystal structure of human aromatic l-amino acid decarboxyla in the open conformation with llp and plp bound to chain-a b respectively 708 3RBL pdb_description: 19-Oct-11 X-ray 3.240 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 708 3RBF pdb_description: 19-Oct-11 X-ray 2.900 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 708 Zimmer Variants: 708 chr7:50611735:T:C 1209_49_17_M->V 708 HGMD Variants: 708 chr7:50611765:G:A 1209_19_7_R->* 708 chr7:50530987:C:G 1209_1151_384_R->P 708 chr7:50530993:A:C 1209_1145_382_V->G 708 chr7:50531015:G:A 1209_1123_375_R->C 708 chr7:50531032:C:T 1209_1106_369_R->H 708 chr7:50531060:A:G 1209_1078_360_C->R 708 chr7:50534920:G:A 1209_1000_334_R->W 708 chr7:50534932:G:T 1209_988_330_L->I 708 chr7:50537838:C:T 1209_839_280_R->H 708 chr7:50544323:C:T 1209_806_269_R->Q 708 chr7:50563067:A:G 1209_691_231_F->L 708 chr7:50566869:G:A 1209_619_207_R->W 708 chr7:50566899:C:T 1209_589_197_A->T 708 chr7:50571723:G:A 1209_515_172_S->F 708 chr7:50595839:A:G 1209_476_159_F->S 708 chr7:50595884:A:G 1209_431_144_L->P 708 chr7:50595920:G:A 1209_395_132_P->L 708 chr7:50596998:G:A 1209_244_82_R->W 708 chr7:50597030:C:G 1209_212_71_S->T 708 chr7:50597037:T:G 1209_205_69_S->R 708 chr7:50611644:G:T 1209_140_47_P->H 708 chr7:50611671:A:G 1209_113_38_L->P 708 chr7:50611687:C:G 1209_97_33_V->L 708 chr7:50611711:C:T 1209_73_25_E->K 708 oneKG Variants: 708 chr7:50530937:T:C 1209_1201_401_R->G 0.000199681 708 chr7:50530987:C:T 1209_1151_384_R->Q 0.0521166 708 chr7:50534920:G:A 1209_1000_334_R->W 0.000199681 708 chr7:50534964:C:T 1209_956_319_R->H 0.000199681 708 chr7:50534973:T:C 1209_947_316_Q->R 0.000199681 708 chr7:50537776:G:A 1209_901_301_R->C 0.000399361 708 chr7:50547559:A:T 1209_713_238_V->E 0.000199681 708 chr7:50566866:G:A 1209_622_208_H->Y 0.000199681 708 chr7:50566914:C:T 1209_574_192_V->I 0.000199681 708 chr7:50571755:C:A 1209_483_161_M->I 0.000798722 708 chr7:50595842:G:T 1209_473_158_P->H 0.000199681 708 chr7:50595845:A:G 1209_470_157_I->T 0.000199681 708 chr7:50595900:T:C 1209_415_139_M->V 0.0329473 708 chr7:50595920:G:A 1209_395_132_P->L 0.0127796 708 chr7:50596926:C:G 1209_316_106_V->L 0.00119808 708 chr7:50597000:G:A 1209_242_81_A->V 0.000199681 708 chr7:50597021:G:T 1209_221_74_T->N 0.000199681 708 chr7:50611601:C:A 1209_183_61_E->D 0.00678914 708 chr7:50611735:T:C 1209_49_17_M->V 0.006789 708 chr7:50611764:C:T 1209_20_7_R->Q 0.000199681 708 na12878 Variants: 708 chr7:50595900:T:C 1209_415_139_M->V 708 chr7:50611735:T:C 1209_49_17_M->V 708 snyder Variants: 708 chr7:50611735:T:C 1209_49_17_M->V 709 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132437_ENST00000444124 gene_Name: DDC_HUMAN 709 list of pdbs: 709 3RCH pdb_description: 19-Oct-11 X-ray 2.800 Crystal structure of human aromatic l-amino acid decarboxyla in the open conformation with llp and plp bound to chain-a b respectively 709 3RBL pdb_description: 19-Oct-11 X-ray 3.240 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 709 3RBF pdb_description: 19-Oct-11 X-ray 2.900 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 709 Zimmer Variants: 709 chr7:50611735:T:C 1443_49_17_M->V 709 HGMD Variants: 709 chr7:50611765:G:A 1443_19_7_R->* 709 chr7:50530987:C:G 1443_1385_462_R->P 709 chr7:50530993:A:C 1443_1379_460_V->G 709 chr7:50531015:G:A 1443_1357_453_R->C 709 chr7:50531032:C:T 1443_1340_447_R->H 709 chr7:50531060:A:G 1443_1312_438_C->R 709 chr7:50534920:G:A 1443_1234_412_R->W 709 chr7:50534932:G:T 1443_1222_408_L->I 709 chr7:50537838:C:T 1443_1073_358_R->H 709 chr7:50544323:C:T 1443_1040_347_R->Q 709 chr7:50563067:A:G 1443_925_309_F->L 709 chr7:50566869:G:A 1443_853_285_R->W 709 chr7:50566899:C:T 1443_823_275_A->T 709 chr7:50571723:G:A 1443_749_250_S->F 709 chr7:50595839:A:G 1443_710_237_F->S 709 chr7:50595884:A:G 1443_665_222_L->P 709 chr7:50595920:G:A 1443_629_210_P->L 709 chr7:50596998:G:A 1443_478_160_R->W 709 chr7:50597030:C:G 1443_446_149_S->T 709 chr7:50597037:T:G 1443_439_147_S->R 709 chr7:50605626:C:T 1443_367_123_G->R 709 chr7:50605664:G:T 1443_329_110_A->E 709 chr7:50607624:C:T 1443_304_102_G->S 709 chr7:50607656:G:A 1443_272_91_A->V 709 chr7:50607668:G:A 1443_260_87_P->L 709 chr7:50607686:G:A 1443_242_81_P->L 709 chr7:50607692:T:C 1443_236_79_Y->C 709 chr7:50607714:G:A 1443_214_72_H->Y 709 chr7:50607720:G:A 1443_208_70_H->Y 709 chr7:50607722:G:A 1443_206_69_T->M 709 chr7:50611644:G:T 1443_140_47_P->H 709 chr7:50611671:A:G 1443_113_38_L->P 709 chr7:50611687:C:G 1443_97_33_V->L 709 chr7:50611711:C:T 1443_73_25_E->K 709 oneKG Variants: 709 chr7:50530937:T:C 1443_1435_479_R->G 0.000199681 709 chr7:50530987:C:T 1443_1385_462_R->Q 0.0521166 709 chr7:50534920:G:A 1443_1234_412_R->W 0.000199681 709 chr7:50534964:C:T 1443_1190_397_R->H 0.000199681 709 chr7:50534973:T:C 1443_1181_394_Q->R 0.000199681 709 chr7:50537776:G:A 1443_1135_379_R->C 0.000399361 709 chr7:50547559:A:T 1443_947_316_V->E 0.000199681 709 chr7:50566866:G:A 1443_856_286_H->Y 0.000199681 709 chr7:50566914:C:T 1443_808_270_V->I 0.000199681 709 chr7:50571755:C:A 1443_717_239_M->I 0.000798722 709 chr7:50595842:G:T 1443_707_236_P->H 0.000199681 709 chr7:50595845:A:G 1443_704_235_I->T 0.000199681 709 chr7:50595900:T:C 1443_649_217_M->V 0.0329473 709 chr7:50595920:G:A 1443_629_210_P->L 0.0127796 709 chr7:50596926:C:G 1443_550_184_V->L 0.00119808 709 chr7:50597000:G:A 1443_476_159_A->V 0.000199681 709 chr7:50597021:G:T 1443_455_152_T->N 0.000199681 709 chr7:50605620:T:A 1443_373_125_M->L 0.000199681 709 chr7:50611601:C:A 1443_183_61_E->D 0.00678914 709 chr7:50611735:T:C 1443_49_17_M->V 0.006789 709 chr7:50611764:C:T 1443_20_7_R->Q 0.000199681 709 na12878 Variants: 709 chr7:50595900:T:C 1443_649_217_M->V 709 chr7:50611735:T:C 1443_49_17_M->V 709 snyder Variants: 709 chr7:50611735:T:C 1443_49_17_M->V 710 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000132437_ENST00000380984 gene_Name: DDC_HUMAN 710 list of pdbs: 710 3RCH pdb_description: 19-Oct-11 X-ray 2.800 Crystal structure of human aromatic l-amino acid decarboxyla in the open conformation with llp and plp bound to chain-a b respectively 710 3RBL pdb_description: 19-Oct-11 X-ray 3.240 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 710 3RBF pdb_description: 19-Oct-11 X-ray 2.900 Crystal structure of human aromatic l-amino acid decarboxyla in the apo form 710 Zimmer Variants: 710 chr7:50611735:T:C 1017_49_17_M->V 710 HGMD Variants: 710 chr7:50611765:G:A 1017_19_7_R->* 710 chr7:50563067:A:G 1017_925_309_F->L 710 chr7:50566869:G:A 1017_853_285_R->W 710 chr7:50566899:C:T 1017_823_275_A->T 710 chr7:50571723:G:A 1017_749_250_S->F 710 chr7:50595839:A:G 1017_710_237_F->S 710 chr7:50595884:A:G 1017_665_222_L->P 710 chr7:50595920:G:A 1017_629_210_P->L 710 chr7:50596998:G:A 1017_478_160_R->W 710 chr7:50597030:C:G 1017_446_149_S->T 710 chr7:50597037:T:G 1017_439_147_S->R 710 chr7:50605626:C:T 1017_367_123_G->R 710 chr7:50605664:G:T 1017_329_110_A->E 710 chr7:50607624:C:T 1017_304_102_G->S 710 chr7:50607656:G:A 1017_272_91_A->V 710 chr7:50607668:G:A 1017_260_87_P->L 710 chr7:50607686:G:A 1017_242_81_P->L 710 chr7:50607692:T:C 1017_236_79_Y->C 710 chr7:50607714:G:A 1017_214_72_H->Y 710 chr7:50607720:G:A 1017_208_70_H->Y 710 chr7:50607722:G:A 1017_206_69_T->M 710 chr7:50611644:G:T 1017_140_47_P->H 710 chr7:50611671:A:G 1017_113_38_L->P 710 chr7:50611687:C:G 1017_97_33_V->L 710 chr7:50611711:C:T 1017_73_25_E->K 710 oneKG Variants: 710 chr7:50566866:G:A 1017_856_286_H->Y 0.000199681 710 chr7:50566914:C:T 1017_808_270_V->I 0.000199681 710 chr7:50571755:C:A 1017_717_239_M->I 0.000798722 710 chr7:50595842:G:T 1017_707_236_P->H 0.000199681 710 chr7:50595845:A:G 1017_704_235_I->T 0.000199681 710 chr7:50595900:T:C 1017_649_217_M->V 0.0329473 710 chr7:50595920:G:A 1017_629_210_P->L 0.0127796 710 chr7:50596926:C:G 1017_550_184_V->L 0.00119808 710 chr7:50597000:G:A 1017_476_159_A->V 0.000199681 710 chr7:50597021:G:T 1017_455_152_T->N 0.000199681 710 chr7:50605620:T:A 1017_373_125_M->L 0.000199681 710 chr7:50611601:C:A 1017_183_61_E->D 0.00678914 710 chr7:50611735:T:C 1017_49_17_M->V 0.006789 710 chr7:50611764:C:T 1017_20_7_R->Q 0.000199681 710 na12878 Variants: 710 chr7:50595900:T:C 1017_649_217_M->V 710 chr7:50611735:T:C 1017_49_17_M->V 710 snyder Variants: 710 chr7:50611735:T:C 1017_49_17_M->V 711 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000158517_ENST00000289473 gene_Name: NCF1_HUMAN 711 list of pdbs: 711 1W70 pdb_description: 18-Jan-05 X-ray 1.460 Sh3 domain of p40phox complexed with c-terminal polyproline region of p47phox 711 1UEC pdb_description: 27-May-03 X-ray 1.820 Crystal structure of autoinhibited form of tandem sh3 domain p47phox 711 1OV3 pdb_description: 20-May-03 X-ray 1.800 Structure of the p22phox-p47phox complex 711 1O7K pdb_description: 20-Nov-02 X-ray 2.000 Human p47 px domain complex with sulphates 711 1NG2 pdb_description: 20-May-03 X-ray 1.700 Structure of autoinhibited p47phox 711 1KQ6 pdb_description: 11-Nov-03 X-ray 1.180 P47phox px domain 711 1K4U pdb_description: 08-Apr-02 NMR 22 Solution structure of thE C-terminal sh3 domain of p67phox complexed with thE C-terminal tail region of p47phox 711 1GD5 pdb_description: 13-Jun-01 NMR 20 Solution structure of the px domain from human p47phox NADPH oxidase 711 1WLP pdb_description: 04-Oct-05 NMR 1 Solution structure of the p22phox-p47phox complex 711 Zimmer Variants: 711 chr7:74193668:G:A 1173_295_99_G->S;GENE=NCF1;CDSS=1 711 HGMD Variants: 711 chr7:74193644:C:T 1173_271_91_Q->* 711 chr7:74193706:T:A 1173_333_111_C->* 711 chr7:74197872:G:A 1173_579_193_W->* 711 chr7:74197897:C:T 1173_604_202_R->* 711 chr7:74197905:G:A 1173_612_204_W->* 711 chr7:74197971:T:G 1173_678_226_Y->* 711 chr7:74191665:G:A 1173_125_42_R->Q 711 chr7:74193431:A:G 1173_157_53_T->A 711 chr7:74193642:G:A 1173_269_90_R->H 711 chr7:74195133:A:G 1173_403_135_K->E 711 chr7:74197404:G:A 1173_574_192_G->S 711 chr7:74197404:G:A 1173_574_192_G->S 711 chr7:74199575:G:A 1173_730_244_E->K 711 chr7:74199629:G:A 1173_784_262_G->S 711 chr7:74199634:G:C 1173_789_263_W->C 711 chr7:74202920:C:T 1173_923_308_A->V 711 oneKG Variants: 711 chr7:74193447:T:A 1173_173_58_F->Y 0.000199681 711 chr7:74193620:G:A 1173_247_83_G->R 0.00359425 711 chr7:74193665:T:G 1173_292_98_C->G 0.000399361 711 chr7:74193668:G:A 1173_295_99_G->S 0.36881 711 chr7:74193702:G:A 1173_329_110_R->H 0.000199681 711 chr7:74193720:A:G 1173_347_116_D->G 0.000399361 711 chr7:74197315:G:A 1173_485_162_R->H 0.000199681 711 chr7:74197317:G:A 1173_487_163_A->T 0.000399361 711 chr7:74197332:G:A 1173_502_168_E->K 0.000399361 711 chr7:74197888:A:C 1173_595_199_K->Q 0.000199681 711 chr7:74197927:C:T 1173_634_212_P->S 0.000199681 711 chr7:74197949:C:T 1173_656_219_T->M 0.000199681 711 chr7:74202332:G:A 1173_805_269_D->N 0.000199681 711 chr7:74202948:G:C 1173_951_317_K->N 0.00119808 711 chr7:74203003:C:T 1173_1006_336_R->C 0.000199681 711 chr7:74203043:C:A 1173_1046_349_P->Q 0.000199681 711 na12878 Variants: 711 chr7:74193668:G:A 1173_295_99_G->S 711 snyder Variants: 711 chr7:74193668:G:A 1173_295_99_G->S 712 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000008277_ENST00000398204 gene_Name: ADA22_HUMAN 712 list of pdbs: 712 3G5C pdb_description: 18-Aug-09 X-ray 2.360 Structural and biochemical studies on the ectodomain of huma 712 Zimmer Variants: 712 chr7:87564497:C:G 2613_242_81_P->R 712 HGMD Variants: 712 chr7:87760687:G:A 2613_929_310_R->H 712 oneKG Variants: 712 chr7:87564499:C:T 2613_244_82_Q->* 0.000199681 712 chr7:87563794:T:G 2613_14_5_V->G 0.00299521 712 chr7:87563857:G:A 2613_77_26_G->D 0.000199681 712 chr7:87564388:G:A 2613_133_45_V->M 0.0123802 712 chr7:87564392:A:T 2613_137_46_E->V 0.000199681 712 chr7:87564418:C:A,T 2613_163_55_L->I 0.000199681 712 chr7:87564418:C:A,T 2613_163_55_L->F 0.000199681 712 chr7:87564470:C:G 2613_215_72_T->R 0.000199681 712 chr7:87564497:C:G 2613_242_81_P->R 0.369609 712 chr7:87607661:T:C 2613_257_86_V->A 0.000199681 712 chr7:87607717:G:A 2613_313_105_V->M 0.000199681 712 chr7:87704964:T:C 2613_347_116_I->T 0.000399361 712 chr7:87704972:C:T 2613_355_119_H->Y 0.0131789 712 chr7:87704999:G:A 2613_382_128_E->K 0.0061901 712 chr7:87737521:A:G 2613_421_141_I->V 0.000199681 712 chr7:87743915:G:A 2613_490_164_G->R 0.000399361 712 chr7:87746103:A:C 2613_581_194_E->A 0.00239617 712 chr7:87754915:G:A 2613_619_207_V->I 0.0810703 712 chr7:87754955:C:G 2613_659_220_P->R 0.00179712 712 chr7:87754969:C:T 2613_673_225_R->W 0.000199681 712 chr7:87757920:C:T 2613_682_228_R->C 0.000199681 712 chr7:87757924:G:A 2613_686_229_R->Q 0.000199681 712 chr7:87757932:C:T 2613_694_232_R->C 0.000199681 712 chr7:87759715:C:T 2613_766_256_R->W 0.000399361 712 chr7:87759724:G:A 2613_775_259_V->I 0.000199681 712 chr7:87760639:C:T 2613_881_294_A->V 0.000199681 712 chr7:87760674:T:G 2613_916_306_L->V 0.000199681 712 chr7:87763724:G:C 2613_1158_386_K->N 0.000199681 712 chr7:87774474:T:C 2613_1355_452_I->T 0.000199681 712 chr7:87778344:G:T 2613_1538_513_R->L 0.000199681 712 chr7:87780302:C:A 2613_1573_525_P->T 0.000798722 712 chr7:87785254:C:T 2613_1840_614_L->F 0.000199681 712 chr7:87785303:G:A 2613_1889_630_G->E 0.000199681 712 chr7:87792353:A:T 2613_1934_645_D->V 0.000998403 712 chr7:87792376:G:A 2613_1957_653_D->N 0.000199681 712 chr7:87792445:T:C 2613_2026_676_F->L 0.000199681 712 chr7:87795223:A:G 2613_2153_718_N->S 0.000399361 712 chr7:87795237:A:G 2613_2167_723_T->A 0.000199681 712 chr7:87810881:A:T 2613_2362_788_I->F 0.000199681 712 chr7:87822481:C:T 2613_2519_840_S->F 0.000199681 712 chr7:87822534:G:A 2613_2572_858_V->M 0.00199681 712 chr7:87822541:G:A 2613_2579_860_R->Q 0.000399361 712 na12878 Variants: 712 chr7:87564497:C:G 2613_242_81_P->R 712 snyder Variants: 712 chr7:87564497:C:G 2613_242_81_P->R 713 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000008277_ENST00000398201 gene_Name: ADA22_HUMAN 713 list of pdbs: 713 3G5C pdb_description: 18-Aug-09 X-ray 2.360 Structural and biochemical studies on the ectodomain of huma 713 Zimmer Variants: 713 chr7:87564497:C:G 2580_242_81_P->R 713 HGMD Variants: 713 chr7:87760687:G:A 2580_929_310_R->H 713 oneKG Variants: 713 chr7:87564499:C:T 2580_244_82_Q->* 0.000199681 713 chr7:87563794:T:G 2580_14_5_V->G 0.00299521 713 chr7:87563857:G:A 2580_77_26_G->D 0.000199681 713 chr7:87564388:G:A 2580_133_45_V->M 0.0123802 713 chr7:87564392:A:T 2580_137_46_E->V 0.000199681 713 chr7:87564418:C:A,T 2580_163_55_L->I 0.000199681 713 chr7:87564418:C:A,T 2580_163_55_L->F 0.000199681 713 chr7:87564470:C:G 2580_215_72_T->R 0.000199681 713 chr7:87564497:C:G 2580_242_81_P->R 0.369609 713 chr7:87607661:T:C 2580_257_86_V->A 0.000199681 713 chr7:87607717:G:A 2580_313_105_V->M 0.000199681 713 chr7:87704964:T:C 2580_347_116_I->T 0.000399361 713 chr7:87704972:C:T 2580_355_119_H->Y 0.0131789 713 chr7:87704999:G:A 2580_382_128_E->K 0.0061901 713 chr7:87737521:A:G 2580_421_141_I->V 0.000199681 713 chr7:87743915:G:A 2580_490_164_G->R 0.000399361 713 chr7:87746103:A:C 2580_581_194_E->A 0.00239617 713 chr7:87754915:G:A 2580_619_207_V->I 0.0810703 713 chr7:87754955:C:G 2580_659_220_P->R 0.00179712 713 chr7:87754969:C:T 2580_673_225_R->W 0.000199681 713 chr7:87757920:C:T 2580_682_228_R->C 0.000199681 713 chr7:87757924:G:A 2580_686_229_R->Q 0.000199681 713 chr7:87757932:C:T 2580_694_232_R->C 0.000199681 713 chr7:87759715:C:T 2580_766_256_R->W 0.000399361 713 chr7:87759724:G:A 2580_775_259_V->I 0.000199681 713 chr7:87760639:C:T 2580_881_294_A->V 0.000199681 713 chr7:87760674:T:G 2580_916_306_L->V 0.000199681 713 chr7:87763724:G:C 2580_1158_386_K->N 0.000199681 713 chr7:87774474:T:C 2580_1355_452_I->T 0.000199681 713 chr7:87778344:G:T 2580_1538_513_R->L 0.000199681 713 chr7:87780302:C:A 2580_1573_525_P->T 0.000798722 713 chr7:87785254:C:T 2580_1840_614_L->F 0.000199681 713 chr7:87785303:G:A 2580_1889_630_G->E 0.000199681 713 chr7:87792353:A:T 2580_1934_645_D->V 0.000998403 713 chr7:87792376:G:A 2580_1957_653_D->N 0.000199681 713 chr7:87792445:T:C 2580_2026_676_F->L 0.000199681 713 chr7:87795223:A:G 2580_2153_718_N->S 0.000399361 713 chr7:87795237:A:G 2580_2167_723_T->A 0.000199681 713 chr7:87810881:A:T 2580_2470_824_I->F 0.000199681 713 na12878 Variants: 713 chr7:87564497:C:G 2580_242_81_P->R 713 snyder Variants: 713 chr7:87564497:C:G 2580_242_81_P->R 714 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000008277_ENST00000265727 gene_Name: ADA22_HUMAN 714 list of pdbs: 714 3G5C pdb_description: 18-Aug-09 X-ray 2.360 Structural and biochemical studies on the ectodomain of huma 714 Zimmer Variants: 714 chr7:87564497:C:G 2721_242_81_P->R 714 HGMD Variants: 714 chr7:87760687:G:A 2721_929_310_R->H 714 oneKG Variants: 714 chr7:87564499:C:T 2721_244_82_Q->* 0.000199681 714 chr7:87563794:T:G 2721_14_5_V->G 0.00299521 714 chr7:87563857:G:A 2721_77_26_G->D 0.000199681 714 chr7:87564388:G:A 2721_133_45_V->M 0.0123802 714 chr7:87564392:A:T 2721_137_46_E->V 0.000199681 714 chr7:87564418:C:A,T 2721_163_55_L->I 0.000199681 714 chr7:87564418:C:A,T 2721_163_55_L->F 0.000199681 714 chr7:87564470:C:G 2721_215_72_T->R 0.000199681 714 chr7:87564497:C:G 2721_242_81_P->R 0.369609 714 chr7:87607661:T:C 2721_257_86_V->A 0.000199681 714 chr7:87607717:G:A 2721_313_105_V->M 0.000199681 714 chr7:87704964:T:C 2721_347_116_I->T 0.000399361 714 chr7:87704972:C:T 2721_355_119_H->Y 0.0131789 714 chr7:87704999:G:A 2721_382_128_E->K 0.0061901 714 chr7:87737521:A:G 2721_421_141_I->V 0.000199681 714 chr7:87743915:G:A 2721_490_164_G->R 0.000399361 714 chr7:87746103:A:C 2721_581_194_E->A 0.00239617 714 chr7:87754915:G:A 2721_619_207_V->I 0.0810703 714 chr7:87754955:C:G 2721_659_220_P->R 0.00179712 714 chr7:87754969:C:T 2721_673_225_R->W 0.000199681 714 chr7:87757920:C:T 2721_682_228_R->C 0.000199681 714 chr7:87757924:G:A 2721_686_229_R->Q 0.000199681 714 chr7:87757932:C:T 2721_694_232_R->C 0.000199681 714 chr7:87759715:C:T 2721_766_256_R->W 0.000399361 714 chr7:87759724:G:A 2721_775_259_V->I 0.000199681 714 chr7:87760639:C:T 2721_881_294_A->V 0.000199681 714 chr7:87760674:T:G 2721_916_306_L->V 0.000199681 714 chr7:87763724:G:C 2721_1158_386_K->N 0.000199681 714 chr7:87774474:T:C 2721_1355_452_I->T 0.000199681 714 chr7:87778344:G:T 2721_1538_513_R->L 0.000199681 714 chr7:87780302:C:A 2721_1573_525_P->T 0.000798722 714 chr7:87785254:C:T 2721_1840_614_L->F 0.000199681 714 chr7:87785303:G:A 2721_1889_630_G->E 0.000199681 714 chr7:87792353:A:T 2721_1934_645_D->V 0.000998403 714 chr7:87792376:G:A 2721_1957_653_D->N 0.000199681 714 chr7:87792445:T:C 2721_2026_676_F->L 0.000199681 714 chr7:87795223:A:G 2721_2153_718_N->S 0.000399361 714 chr7:87795237:A:G 2721_2167_723_T->A 0.000199681 714 chr7:87810881:A:T 2721_2470_824_I->F 0.000199681 714 chr7:87822481:C:T 2721_2627_876_S->F 0.000199681 714 chr7:87822534:G:A 2721_2680_894_V->M 0.00199681 714 chr7:87822541:G:A 2721_2687_896_R->Q 0.000399361 714 na12878 Variants: 714 chr7:87564497:C:G 2721_242_81_P->R 714 snyder Variants: 714 chr7:87564497:C:G 2721_242_81_P->R 715 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000008277_ENST00000398209 gene_Name: ADA22_HUMAN 715 list of pdbs: 715 3G5C pdb_description: 18-Aug-09 X-ray 2.360 Structural and biochemical studies on the ectodomain of huma 715 Zimmer Variants: 715 chr7:87564497:C:G 2700_242_81_P->R 715 HGMD Variants: 715 chr7:87760687:G:A 2700_929_310_R->H 715 oneKG Variants: 715 chr7:87564499:C:T 2700_244_82_Q->* 0.000199681 715 chr7:87563794:T:G 2700_14_5_V->G 0.00299521 715 chr7:87563857:G:A 2700_77_26_G->D 0.000199681 715 chr7:87564388:G:A 2700_133_45_V->M 0.0123802 715 chr7:87564392:A:T 2700_137_46_E->V 0.000199681 715 chr7:87564418:C:A,T 2700_163_55_L->I 0.000199681 715 chr7:87564418:C:A,T 2700_163_55_L->F 0.000199681 715 chr7:87564470:C:G 2700_215_72_T->R 0.000199681 715 chr7:87564497:C:G 2700_242_81_P->R 0.369609 715 chr7:87607661:T:C 2700_257_86_V->A 0.000199681 715 chr7:87607717:G:A 2700_313_105_V->M 0.000199681 715 chr7:87704964:T:C 2700_347_116_I->T 0.000399361 715 chr7:87704972:C:T 2700_355_119_H->Y 0.0131789 715 chr7:87704999:G:A 2700_382_128_E->K 0.0061901 715 chr7:87737521:A:G 2700_421_141_I->V 0.000199681 715 chr7:87743915:G:A 2700_490_164_G->R 0.000399361 715 chr7:87746103:A:C 2700_581_194_E->A 0.00239617 715 chr7:87754915:G:A 2700_619_207_V->I 0.0810703 715 chr7:87754955:C:G 2700_659_220_P->R 0.00179712 715 chr7:87754969:C:T 2700_673_225_R->W 0.000199681 715 chr7:87757920:C:T 2700_682_228_R->C 0.000199681 715 chr7:87757924:G:A 2700_686_229_R->Q 0.000199681 715 chr7:87757932:C:T 2700_694_232_R->C 0.000199681 715 chr7:87759715:C:T 2700_766_256_R->W 0.000399361 715 chr7:87759724:G:A 2700_775_259_V->I 0.000199681 715 chr7:87760639:C:T 2700_881_294_A->V 0.000199681 715 chr7:87760674:T:G 2700_916_306_L->V 0.000199681 715 chr7:87763724:G:C 2700_1158_386_K->N 0.000199681 715 chr7:87774474:T:C 2700_1355_452_I->T 0.000199681 715 chr7:87778344:G:T 2700_1538_513_R->L 0.000199681 715 chr7:87780302:C:A 2700_1573_525_P->T 0.000798722 715 chr7:87785254:C:T 2700_1840_614_L->F 0.000199681 715 chr7:87785303:G:A 2700_1889_630_G->E 0.000199681 715 chr7:87792353:A:T 2700_1934_645_D->V 0.000998403 715 chr7:87792376:G:A 2700_1957_653_D->N 0.000199681 715 chr7:87792445:T:C 2700_2026_676_F->L 0.000199681 715 chr7:87795223:A:G 2700_2153_718_N->S 0.000399361 715 chr7:87795237:A:G 2700_2167_723_T->A 0.000199681 715 chr7:87810881:A:T 2700_2362_788_I->F 0.000199681 715 chr7:87815975:G:C 2700_2514_838_W->C 0.000199681 715 chr7:87822481:C:T 2700_2606_869_S->F 0.000199681 715 chr7:87822534:G:A 2700_2659_887_V->M 0.00199681 715 chr7:87822541:G:A 2700_2666_889_R->Q 0.000399361 715 na12878 Variants: 715 chr7:87564497:C:G 2700_242_81_P->R 715 snyder Variants: 715 chr7:87564497:C:G 2700_242_81_P->R 716 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000106804_ENST00000223642 gene_Name: CO5_HUMAN 716 list of pdbs: 716 4E0S pdb_description: 18-Apr-12 X-ray 4.210 Crystal structure of c5b-6 716 4A5W pdb_description: 14-Mar-12 X-ray 3.500 Crystal structure of c5b6 716 3PVM pdb_description: 19-Jan-11 X-ray 4.300 Structure of complement c5 in complex with cvf 716 3PRX pdb_description: 19-Jan-11 X-ray 4.300 Structure of complement c5 in complex with cvf and ssl7 716 3KM9 pdb_description: 01-Dec-09 X-ray 4.200 Structure of complement c5 in complex with thE C-terminal be domain of ssl7 716 3KLS pdb_description: 24-Nov-09 X-ray 3.600 Structure of complement c5 in complex with ssl7 716 3HQB pdb_description: 02-Feb-10 X-ray 3.300 Crystal structure of human desarg-c5a 716 3HQA pdb_description: 02-Feb-10 X-ray 2.590 Crystal structure of human desarg-c5a 716 3CU7 pdb_description: 10-Jun-08 X-ray 3.100 Human complement component 5 716 1XWE pdb_description: 21-Dec-04 NMR 40 Nmr structure of c345c (ntr) domain of c5 of complement 716 1KJS pdb_description: 15-May-97 NMR 20 Nmr solution structure of c5a at ph 5.2, 303k, 20 structures 716 1CFA pdb_description: 17-Sep-97 NMR 20 Solution structure of a semi-synthetic c5a receptor antagoni 5.2, 303k, nmr, 20 structures 716 Zimmer Variants: 716 chr9:123725926:T:G 5031_4311_1437_E->D;GENE=C5;CDSS=1 716 chr9:123769200:C:T 5031_2404_802_V->I;GENE=C5;CDSS=1 716 HGMD Variants: 716 chr9:123715076:G:A 5031_4972_1658_Q->* 716 chr9:123725027:G:A 5031_4426_1476_R->* 716 chr9:123787840:G:A 5031_892_298_Q->* 716 chr9:123812470:G:A 5031_55_19_Q->* 716 chr9:123759961:C:T 5031_2654_885_R->H 716 chr9:123759962:G:A 5031_2653_885_R->C 716 chr9:123768223:A:G 5031_2536_846_Y->H 716 chr9:123769200:C:T 5031_2404_802_V->I 716 chr9:123779731:A:C 5031_1775_592_M->R 716 chr9:123785683:T:C 5031_1115_372_K->R 716 chr9:123785738:G:T 5031_1060_354_L->M 716 chr9:123792679:C:T 5031_754_252_A->T 716 oneKG Variants: 716 chr9:123744196:G:A 5031_3412_1138_R->* 0.000199681 716 chr9:123770709:C:T 5031_2325_775_W->* 0.000199681 716 chr9:123780022:G:A 5031_1615_539_R->* 0.000199681 716 chr9:123812470:G:A 5031_55_19_Q->* 0.000199681 716 chr9:123715037:T:C 5031_5011_1671_I->V 0.000199681 716 chr9:123715136:G:A 5031_4912_1638_P->S 0.000199681 716 chr9:123723762:T:G 5031_4586_1529_E->A 0.000798722 716 chr9:123725021:G:A 5031_4432_1478_R->W 0.000199681 716 chr9:123725916:C:A 5031_4321_1441_A->S 0.000399361 716 chr9:123725926:T:G 5031_4311_1437_E->D 0.0353435 716 chr9:123725990:G:A 5031_4247_1416_S->L 0.000998403 716 chr9:123731354:A:G 5031_4205_1402_I->T 0.000199681 716 chr9:123731355:T:C 5031_4204_1402_I->V 0.000199681 716 chr9:123732477:T:A 5031_4133_1378_Y->F 0.000199681 716 chr9:123734257:T:A 5031_4031_1344_D->V 0.000199681 716 chr9:123737097:T:C 5031_3977_1326_Y->C 0.000199681 716 chr9:123737145:C:T 5031_3929_1310_S->N 0.0335463 716 chr9:123737154:A:G 5031_3920_1307_L->P 0.000199681 716 chr9:123739070:T:C 5031_3772_1258_S->G 0.000199681 716 chr9:123739072:G:C 5031_3770_1257_T->S 0.00199681 716 chr9:123739166:G:A 5031_3676_1226_R->C 0.000199681 716 chr9:123742441:T:C 5031_3578_1193_Y->C 0.000199681 716 chr9:123744145:C:T 5031_3463_1155_A->T 0.000998403 716 chr9:123744967:T:C 5031_3356_1119_K->R 0.00139776 716 chr9:123751360:G:C 5031_3194_1065_S->C 0.000199681 716 chr9:123751873:G:T 5031_3127_1043_Q->K 0.0217652 716 chr9:123751891:C:T 5031_3109_1037_D->N 0.000199681 716 chr9:123751902:A:G 5031_3098_1033_I->T 0.00439297 716 chr9:123751967:C:G 5031_3033_1011_E->D 0.00319489 716 chr9:123751971:G:A 5031_3029_1010_A->V 0.000399361 716 chr9:123752026:G:C 5031_2974_992_L->V 0.000199681 716 chr9:123753514:C:A 5031_2896_966_D->Y 0.0129792 716 chr9:123753516:A:G 5031_2894_965_L->S 0.000199681 716 chr9:123758571:C:A 5031_2798_933_G->V 0.000199681 716 chr9:123759832:C:T 5031_2783_928_R->Q 0.0117812 716 chr9:123759901:A:G 5031_2714_905_I->T 0.000199681 716 chr9:123759961:C:T 5031_2654_885_R->H 0.00179712 716 chr9:123759998:T:C 5031_2617_873_I->V 0.000199681 716 chr9:123760024:C:T 5031_2591_864_G->E 0.000199681 716 chr9:123769200:C:T 5031_2404_802_V->I 0.404752 716 chr9:123769205:T:C 5031_2399_800_Q->R 0.000199681 716 chr9:123776217:A:G 5031_2191_731_C->R 0.000199681 716 chr9:123776223:T:C 5031_2185_729_T->A 0.000199681 716 chr9:123776239:T:G 5031_2169_723_R->S 0.000199681 716 chr9:123776307:C:A 5031_2101_701_D->Y 0.000199681 716 chr9:123777503:G:A 5031_2033_678_T->M 0.000199681 716 chr9:123778587:G:C 5031_1941_647_H->Q 0.000199681 716 chr9:123778590:G:T 5031_1938_646_F->L 0.000199681 716 chr9:123779641:C:G 5031_1865_622_R->T 0.000199681 716 chr9:123779985:G:A 5031_1652_551_T->I 0.000199681 716 chr9:123780096:G:A 5031_1541_514_T->M 0.000399361 716 chr9:123782342:T:C 5031_1418_473_H->R 0.00219649 716 chr9:123782347:A:T 5031_1413_471_D->E 0.000199681 716 chr9:123782408:C:A 5031_1352_451_G->V 0.000998403 716 chr9:123782415:T:C 5031_1345_449_R->G 0.0297524 716 chr9:123783803:G:T 5031_1286_429_T->K 0.000399361 716 chr9:123785738:G:T 5031_1060_354_L->M 0.000998403 716 chr9:123785759:A:G 5031_1039_347_Y->H 0.000199681 716 chr9:123787732:C:G 5031_1000_334_G->R 0.000199681 716 chr9:123789451:A:G 5031_860_287_M->T 0.000199681 716 chr9:123789454:G:A 5031_857_286_A->V 0.000199681 716 chr9:123789460:T:G 5031_851_284_Q->P 0.000599042 716 chr9:123789468:T:A 5031_843_281_E->D 0.000199681 716 chr9:123789502:C:A 5031_809_270_G->V 0.000199681 716 chr9:123789544:T:C 5031_767_256_Y->C 0.000199681 716 chr9:123792679:C:T 5031_754_252_A->T 0.00119808 716 chr9:123792699:T:C 5031_734_245_N->S 0.000599042 716 chr9:123792720:A:G 5031_713_238_I->T 0.000199681 716 chr9:123792735:G:A 5031_698_233_P->L 0.000199681 716 chr9:123797093:G:A 5031_572_191_P->L 0.000399361 716 chr9:123797106:C:G 5031_559_187_D->H 0.000199681 716 chr9:123797153:A:G 5031_512_171_V->A 0.000199681 716 chr9:123800211:G:A 5031_440_147_S->L 0.000199681 716 chr9:123800218:C:T 5031_433_145_V->I 0.146565 716 chr9:123800224:C:T 5031_427_143_V->I 0.000199681 716 chr9:123805375:G:T 5031_328_110_H->N 0.00139776 716 chr9:123808596:T:G 5031_131_44_Y->S 0.000199681 716 chr9:123812460:G:A 5031_65_22_T->I 0.000199681 716 chr9:123812461:T:C 5031_64_22_T->A 0.00139776 716 na12878 Variants: 716 chr9:123769200:C:T 5031_2404_802_V->I 716 snyder Variants: 716 chr9:123800218:C:T 5031_433_145_V->I 716 chr9:123769200:C:T 5031_2404_802_V->I 717 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196730_ENST00000358077 gene_Name: DAPK1_HUMAN 717 list of pdbs: 717 4B4L pdb_description: 21-Aug-13 X-ray 1.750 Crystal structure of an ard dap-kinase 1 mutant 717 3ZXT pdb_description: 25-Jul-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain in complex with amppcp-mg 717 3GUB pdb_description: 09-Mar-10 X-ray 1.710 Crystal structure of dapkl93g complexed with n6-(2- phenylethyl)adenosine 717 3GU8 pdb_description: 09-Mar-10 X-ray 1.600 Crystal structure of dapkl93g with n6-cyclopentyladenosine 717 3GU7 pdb_description: 09-Mar-10 X-ray 1.900 Crystal structure of dapkq23v-adp-mg2+ 717 3GU6 pdb_description: 09-Mar-10 X-ray 1.490 Crystal structure of dapkq23v-adp 717 3GU5 pdb_description: 09-Mar-10 X-ray 1.650 Crystal structure of dapkq23v-amppnp-mg2+ 717 3GU4 pdb_description: 09-Mar-10 X-ray 1.350 Crystal structure of dapkq23v-amppnp 717 3F5U pdb_description: 24-Mar-09 X-ray 2.000 Crystal structure of the death associated protein kinase in complex with amppnp and mg2+ 717 3F5G pdb_description: 24-Mar-09 X-ray 1.850 Crystal structure of death associated protein kinase in complex with adp and mg2+ 717 3EHA pdb_description: 28-Apr-09 X-ray 1.600 Crystal structure of death associated protein kinase complexed with amppnp 717 3EH9 pdb_description: 28-Apr-09 X-ray 1.700 Crystal structure of death associated protein kinase complexed with adp 717 3DGK pdb_description: 26-May-09 X-ray 1.700 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain 717 3DFC pdb_description: 26-May-09 X-ray 1.900 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain with amppnp 717 2YAK pdb_description: 27-Apr-11 X-ray 2.200 Structure of death-associated protein kinase 1 (dapk1) in complex with a ruthenium octasporine ligand (osv) 717 2Y4P pdb_description: 18-Jan-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain 717 2Y0A pdb_description: 14-Dec-11 X-ray 2.600 Structure of dapk1 construct residues 1-304 717 2XZS pdb_description: 07-Dec-11 X-ray 2.000 Death associated protein kinase 1 residues 1-312 717 2XUU pdb_description: 02-Nov-11 X-ray 1.800 Crystal structure of a dap-kinase 1 mutant 717 2W4K pdb_description: 22-Dec-09 X-ray 1.900 X-ray structure of a dap-kinase 2-302 717 2W4J pdb_description: 22-Dec-09 X-ray 1.300 X-ray structure of a dap-kinase 2-277 717 1WVY pdb_description: 11-Apr-06 X-ray 2.800 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 717 1WVX pdb_description: 11-Apr-06 X-ray 2.600 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 717 1WVW pdb_description: 11-Apr-06 X-ray 2.400 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 717 1P4F pdb_description: 28-Sep-04 X-ray 1.900 Death associated protein kinase catalytic domain with bound inhibitor fragment 717 1JKT pdb_description: 01-Apr-02 X-ray 3.500 Tetragonal crystal form of a catalytic domain of death-assoc protein kinase 717 1JKS pdb_description: 01-Apr-02 X-ray 1.500 1.5a x-ray structure of apo form of a catalytic domain of death-associated protein kinase 717 1JKL pdb_description: 01-Apr-02 X-ray 1.620 1.6a x-ray structure of binary complex of a catalytic domain of death-associated protein kinase with atp analogue 717 1JKK pdb_description: 01-Apr-02 X-ray 2.400 2.4a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mg. 717 1IG1 pdb_description: 01-Apr-02 X-ray 1.800 1.8a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mn. 717 2Y4V pdb_description: 28-Dec-11 X-ray 1.800 Crystal structure of human calmodulin in complex with a dap kinase-1 mutant (w305y) peptide 717 2X0G pdb_description: 26-Jan-10 X-ray 2.200 X-ray structure of a dap-kinase calmodulin complex 717 1YR5 pdb_description: 04-Jul-06 X-ray 1.700 1.7-a structure of calmodulin bound to a peptide from dap ki 717 Zimmer Variants: 717 chr9:90322023:G:A 4293_4037_1346_S->N 717 HGMD Variants: 717 chr9:90322023:G:A 4293_4037_1346_S->N 717 oneKG Variants: 717 chr9:90114051:G:T 4293_59_20_G->V 0.000199681 717 chr9:90219972:G:T 4293_166_56_V->L 0.000199681 717 chr9:90220002:A:C 4293_196_66_S->R 0.000199681 717 chr9:90220003:G:A 4293_197_66_S->N 0.000199681 717 chr9:90220071:G:A 4293_265_89_V->I 0.000199681 717 chr9:90252914:A:G 4293_341_114_E->G 0.000199681 717 chr9:90254281:A:G 4293_436_146_M->V 0.000199681 717 chr9:90255293:A:G 4293_710_237_E->G 0.000199681 717 chr9:90261410:G:A 4293_1166_389_C->Y 0.000199681 717 chr9:90261423:A:T 4293_1179_393_Q->H 0.000199681 717 chr9:90261460:G:A 4293_1216_406_D->N 0.000199681 717 chr9:90261467:A:G 4293_1223_408_Q->R 0.000399361 717 chr9:90262235:G:A 4293_1246_416_V->I 0.101837 717 chr9:90264923:A:G 4293_1516_506_I->V 0.000199681 717 chr9:90264939:G:A 4293_1532_511_G->E 0.000199681 717 chr9:90266445:G:A 4293_1630_544_G->R 0.000199681 717 chr9:90266449:A:T 4293_1634_545_H->L 0.000399361 717 chr9:90266509:G:T 4293_1694_565_S->I 0.000199681 717 chr9:90266521:T:C 4293_1706_569_F->S 0.000199681 717 chr9:90272969:C:T 4293_1850_617_A->V 0.000199681 717 chr9:90272985:C:G 4293_1866_622_I->M 0.000998403 717 chr9:90272998:C:T 4293_1879_627_R->W 0.000599042 717 chr9:90273025:G:A 4293_1906_636_V->I 0.000199681 717 chr9:90283560:G:T 4293_1972_658_V->L 0.00119808 717 chr9:90283585:G:A 4293_1997_666_R->Q 0.000199681 717 chr9:90296338:T:C 4293_2021_674_F->S 0.000199681 717 chr9:90296339:C:G 4293_2022_674_F->L 0.000199681 717 chr9:90296383:A:G 4293_2066_689_K->R 0.000199681 717 chr9:90296530:C:T 4293_2213_738_S->F 0.000798722 717 chr9:90301572:T:A 4293_2331_777_F->L 0.000199681 717 chr9:90301601:C:T 4293_2360_787_S->L 0.000199681 717 chr9:90312104:G:T 4293_2596_866_V->F 0.000199681 717 chr9:90313638:T:G 4293_2679_893_N->K 0.000199681 717 chr9:90315091:G:C 4293_2810_937_G->A 0.000798722 717 chr9:90317995:T:C 4293_2923_975_S->P 0.000199681 717 chr9:90318055:G:A 4293_2983_995_V->M 0.000199681 717 chr9:90318101:G:A 4293_3029_1010_R->H 0.000798722 717 chr9:90321063:G:C 4293_3077_1026_S->T 0.000199681 717 chr9:90321116:G:A 4293_3130_1044_V->I 0.000199681 717 chr9:90321149:C:T 4293_3163_1055_R->W 0.000199681 717 chr9:90321173:C:T 4293_3187_1063_R->C 0.000199681 717 chr9:90321182:G:A 4293_3196_1066_V->M 0.000599042 717 chr9:90321282:C:G 4293_3296_1099_T->S 0.000399361 717 chr9:90321293:G:A 4293_3307_1103_V->I 0.000199681 717 chr9:90321480:C:T 4293_3494_1165_A->V 0.000399361 717 chr9:90321627:C:T 4293_3641_1214_S->L 0.00159744 717 chr9:90321660:C:G 4293_3674_1225_T->S 0.000199681 717 chr9:90321731:G:A 4293_3745_1249_V->I 0.000399361 717 chr9:90321802:G:T 4293_3816_1272_M->I 0.000599042 717 chr9:90322017:A:C 4293_4031_1344_N->T 0.000599042 717 chr9:90322023:G:A 4293_4037_1346_S->N 0.34405 717 chr9:90322029:G:T 4293_4043_1348_G->V 0.000599042 717 chr9:90322200:G:T 4293_4214_1405_G->V 0.0175719 717 chr9:90322220:G:C 4293_4234_1412_A->P 0.000199681 717 na12878 Variants: 717 chr9:90322023:G:A 4293_4037_1346_S->N 717 snyder Variants: 717 chr9:90322023:G:A 4293_4037_1346_S->N 718 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196730_ENST00000472284 gene_Name: DAPK1_HUMAN 718 list of pdbs: 718 4B4L pdb_description: 21-Aug-13 X-ray 1.750 Crystal structure of an ard dap-kinase 1 mutant 718 3ZXT pdb_description: 25-Jul-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain in complex with amppcp-mg 718 3GUB pdb_description: 09-Mar-10 X-ray 1.710 Crystal structure of dapkl93g complexed with n6-(2- phenylethyl)adenosine 718 3GU8 pdb_description: 09-Mar-10 X-ray 1.600 Crystal structure of dapkl93g with n6-cyclopentyladenosine 718 3GU7 pdb_description: 09-Mar-10 X-ray 1.900 Crystal structure of dapkq23v-adp-mg2+ 718 3GU6 pdb_description: 09-Mar-10 X-ray 1.490 Crystal structure of dapkq23v-adp 718 3GU5 pdb_description: 09-Mar-10 X-ray 1.650 Crystal structure of dapkq23v-amppnp-mg2+ 718 3GU4 pdb_description: 09-Mar-10 X-ray 1.350 Crystal structure of dapkq23v-amppnp 718 3F5U pdb_description: 24-Mar-09 X-ray 2.000 Crystal structure of the death associated protein kinase in complex with amppnp and mg2+ 718 3F5G pdb_description: 24-Mar-09 X-ray 1.850 Crystal structure of death associated protein kinase in complex with adp and mg2+ 718 3EHA pdb_description: 28-Apr-09 X-ray 1.600 Crystal structure of death associated protein kinase complexed with amppnp 718 3EH9 pdb_description: 28-Apr-09 X-ray 1.700 Crystal structure of death associated protein kinase complexed with adp 718 3DGK pdb_description: 26-May-09 X-ray 1.700 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain 718 3DFC pdb_description: 26-May-09 X-ray 1.900 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain with amppnp 718 2YAK pdb_description: 27-Apr-11 X-ray 2.200 Structure of death-associated protein kinase 1 (dapk1) in complex with a ruthenium octasporine ligand (osv) 718 2Y4P pdb_description: 18-Jan-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain 718 2Y0A pdb_description: 14-Dec-11 X-ray 2.600 Structure of dapk1 construct residues 1-304 718 2XZS pdb_description: 07-Dec-11 X-ray 2.000 Death associated protein kinase 1 residues 1-312 718 2XUU pdb_description: 02-Nov-11 X-ray 1.800 Crystal structure of a dap-kinase 1 mutant 718 2W4K pdb_description: 22-Dec-09 X-ray 1.900 X-ray structure of a dap-kinase 2-302 718 2W4J pdb_description: 22-Dec-09 X-ray 1.300 X-ray structure of a dap-kinase 2-277 718 1WVY pdb_description: 11-Apr-06 X-ray 2.800 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 718 1WVX pdb_description: 11-Apr-06 X-ray 2.600 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 718 1WVW pdb_description: 11-Apr-06 X-ray 2.400 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 718 1P4F pdb_description: 28-Sep-04 X-ray 1.900 Death associated protein kinase catalytic domain with bound inhibitor fragment 718 1JKT pdb_description: 01-Apr-02 X-ray 3.500 Tetragonal crystal form of a catalytic domain of death-assoc protein kinase 718 1JKS pdb_description: 01-Apr-02 X-ray 1.500 1.5a x-ray structure of apo form of a catalytic domain of death-associated protein kinase 718 1JKL pdb_description: 01-Apr-02 X-ray 1.620 1.6a x-ray structure of binary complex of a catalytic domain of death-associated protein kinase with atp analogue 718 1JKK pdb_description: 01-Apr-02 X-ray 2.400 2.4a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mg. 718 1IG1 pdb_description: 01-Apr-02 X-ray 1.800 1.8a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mn. 718 2Y4V pdb_description: 28-Dec-11 X-ray 1.800 Crystal structure of human calmodulin in complex with a dap kinase-1 mutant (w305y) peptide 718 2X0G pdb_description: 26-Jan-10 X-ray 2.200 X-ray structure of a dap-kinase calmodulin complex 718 1YR5 pdb_description: 04-Jul-06 X-ray 1.700 1.7-a structure of calmodulin bound to a peptide from dap ki 718 Zimmer Variants: 718 chr9:90322023:G:A 4293_4037_1346_S->N 718 HGMD Variants: 718 chr9:90322023:G:A 4293_4037_1346_S->N 718 oneKG Variants: 718 chr9:90114051:G:T 4293_59_20_G->V 0.000199681 718 chr9:90219972:G:T 4293_166_56_V->L 0.000199681 718 chr9:90220002:A:C 4293_196_66_S->R 0.000199681 718 chr9:90220003:G:A 4293_197_66_S->N 0.000199681 718 chr9:90220071:G:A 4293_265_89_V->I 0.000199681 718 chr9:90252914:A:G 4293_341_114_E->G 0.000199681 718 chr9:90254281:A:G 4293_436_146_M->V 0.000199681 718 chr9:90255293:A:G 4293_710_237_E->G 0.000199681 718 chr9:90261410:G:A 4293_1166_389_C->Y 0.000199681 718 chr9:90261423:A:T 4293_1179_393_Q->H 0.000199681 718 chr9:90261460:G:A 4293_1216_406_D->N 0.000199681 718 chr9:90261467:A:G 4293_1223_408_Q->R 0.000399361 718 chr9:90262235:G:A 4293_1246_416_V->I 0.101837 718 chr9:90264923:A:G 4293_1516_506_I->V 0.000199681 718 chr9:90264939:G:A 4293_1532_511_G->E 0.000199681 718 chr9:90266445:G:A 4293_1630_544_G->R 0.000199681 718 chr9:90266449:A:T 4293_1634_545_H->L 0.000399361 718 chr9:90266509:G:T 4293_1694_565_S->I 0.000199681 718 chr9:90266521:T:C 4293_1706_569_F->S 0.000199681 718 chr9:90272969:C:T 4293_1850_617_A->V 0.000199681 718 chr9:90272985:C:G 4293_1866_622_I->M 0.000998403 718 chr9:90272998:C:T 4293_1879_627_R->W 0.000599042 718 chr9:90273025:G:A 4293_1906_636_V->I 0.000199681 718 chr9:90283560:G:T 4293_1972_658_V->L 0.00119808 718 chr9:90283585:G:A 4293_1997_666_R->Q 0.000199681 718 chr9:90296338:T:C 4293_2021_674_F->S 0.000199681 718 chr9:90296339:C:G 4293_2022_674_F->L 0.000199681 718 chr9:90296383:A:G 4293_2066_689_K->R 0.000199681 718 chr9:90296530:C:T 4293_2213_738_S->F 0.000798722 718 chr9:90301572:T:A 4293_2331_777_F->L 0.000199681 718 chr9:90301601:C:T 4293_2360_787_S->L 0.000199681 718 chr9:90312104:G:T 4293_2596_866_V->F 0.000199681 718 chr9:90313638:T:G 4293_2679_893_N->K 0.000199681 718 chr9:90315091:G:C 4293_2810_937_G->A 0.000798722 718 chr9:90317995:T:C 4293_2923_975_S->P 0.000199681 718 chr9:90318055:G:A 4293_2983_995_V->M 0.000199681 718 chr9:90318101:G:A 4293_3029_1010_R->H 0.000798722 718 chr9:90321063:G:C 4293_3077_1026_S->T 0.000199681 718 chr9:90321116:G:A 4293_3130_1044_V->I 0.000199681 718 chr9:90321149:C:T 4293_3163_1055_R->W 0.000199681 718 chr9:90321173:C:T 4293_3187_1063_R->C 0.000199681 718 chr9:90321182:G:A 4293_3196_1066_V->M 0.000599042 718 chr9:90321282:C:G 4293_3296_1099_T->S 0.000399361 718 chr9:90321293:G:A 4293_3307_1103_V->I 0.000199681 718 chr9:90321480:C:T 4293_3494_1165_A->V 0.000399361 718 chr9:90321627:C:T 4293_3641_1214_S->L 0.00159744 718 chr9:90321660:C:G 4293_3674_1225_T->S 0.000199681 718 chr9:90321731:G:A 4293_3745_1249_V->I 0.000399361 718 chr9:90321802:G:T 4293_3816_1272_M->I 0.000599042 718 chr9:90322017:A:C 4293_4031_1344_N->T 0.000599042 718 chr9:90322023:G:A 4293_4037_1346_S->N 0.34405 718 chr9:90322029:G:T 4293_4043_1348_G->V 0.000599042 718 chr9:90322200:G:T 4293_4214_1405_G->V 0.0175719 718 chr9:90322220:G:C 4293_4234_1412_A->P 0.000199681 718 na12878 Variants: 718 chr9:90322023:G:A 4293_4037_1346_S->N 718 snyder Variants: 718 chr9:90322023:G:A 4293_4037_1346_S->N 719 zimmer_hgmd_oneKG_na12878_ENSG_ENST: ENSG00000196730_ENST00000408954 gene_Name: DAPK1_HUMAN 719 list of pdbs: 719 4B4L pdb_description: 21-Aug-13 X-ray 1.750 Crystal structure of an ard dap-kinase 1 mutant 719 3ZXT pdb_description: 25-Jul-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain in complex with amppcp-mg 719 3GUB pdb_description: 09-Mar-10 X-ray 1.710 Crystal structure of dapkl93g complexed with n6-(2- phenylethyl)adenosine 719 3GU8 pdb_description: 09-Mar-10 X-ray 1.600 Crystal structure of dapkl93g with n6-cyclopentyladenosine 719 3GU7 pdb_description: 09-Mar-10 X-ray 1.900 Crystal structure of dapkq23v-adp-mg2+ 719 3GU6 pdb_description: 09-Mar-10 X-ray 1.490 Crystal structure of dapkq23v-adp 719 3GU5 pdb_description: 09-Mar-10 X-ray 1.650 Crystal structure of dapkq23v-amppnp-mg2+ 719 3GU4 pdb_description: 09-Mar-10 X-ray 1.350 Crystal structure of dapkq23v-amppnp 719 3F5U pdb_description: 24-Mar-09 X-ray 2.000 Crystal structure of the death associated protein kinase in complex with amppnp and mg2+ 719 3F5G pdb_description: 24-Mar-09 X-ray 1.850 Crystal structure of death associated protein kinase in complex with adp and mg2+ 719 3EHA pdb_description: 28-Apr-09 X-ray 1.600 Crystal structure of death associated protein kinase complexed with amppnp 719 3EH9 pdb_description: 28-Apr-09 X-ray 1.700 Crystal structure of death associated protein kinase complexed with adp 719 3DGK pdb_description: 26-May-09 X-ray 1.700 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain 719 3DFC pdb_description: 26-May-09 X-ray 1.900 Crystal structure of a glycine-rich loop mutant of the death associated protein kinase catalytic domain with amppnp 719 2YAK pdb_description: 27-Apr-11 X-ray 2.200 Structure of death-associated protein kinase 1 (dapk1) in complex with a ruthenium octasporine ligand (osv) 719 2Y4P pdb_description: 18-Jan-12 X-ray 2.650 Dimeric structure of dapk-1 catalytic domain 719 2Y0A pdb_description: 14-Dec-11 X-ray 2.600 Structure of dapk1 construct residues 1-304 719 2XZS pdb_description: 07-Dec-11 X-ray 2.000 Death associated protein kinase 1 residues 1-312 719 2XUU pdb_description: 02-Nov-11 X-ray 1.800 Crystal structure of a dap-kinase 1 mutant 719 2W4K pdb_description: 22-Dec-09 X-ray 1.900 X-ray structure of a dap-kinase 2-302 719 2W4J pdb_description: 22-Dec-09 X-ray 1.300 X-ray structure of a dap-kinase 2-277 719 1WVY pdb_description: 11-Apr-06 X-ray 2.800 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 719 1WVX pdb_description: 11-Apr-06 X-ray 2.600 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 719 1WVW pdb_description: 11-Apr-06 X-ray 2.400 Crystal structures of kinase domain of dap kinase in complex with small molecular inhibitors 719 1P4F pdb_description: 28-Sep-04 X-ray 1.900 Death associated protein kinase catalytic domain with bound inhibitor fragment 719 1JKT pdb_description: 01-Apr-02 X-ray 3.500 Tetragonal crystal form of a catalytic domain of death-assoc protein kinase 719 1JKS pdb_description: 01-Apr-02 X-ray 1.500 1.5a x-ray structure of apo form of a catalytic domain of death-associated protein kinase 719 1JKL pdb_description: 01-Apr-02 X-ray 1.620 1.6a x-ray structure of binary complex of a catalytic domain of death-associated protein kinase with atp analogue 719 1JKK pdb_description: 01-Apr-02 X-ray 2.400 2.4a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mg. 719 1IG1 pdb_description: 01-Apr-02 X-ray 1.800 1.8a x-ray structure of ternary complex of a catalytic domain of death-associated protein kinase with atp analogue and mn. 719 2Y4V pdb_description: 28-Dec-11 X-ray 1.800 Crystal structure of human calmodulin in complex with a dap kinase-1 mutant (w305y) peptide 719 2X0G pdb_description: 26-Jan-10 X-ray 2.200 X-ray structure of a dap-kinase calmodulin complex 719 1YR5 pdb_description: 04-Jul-06 X-ray 1.700 1.7-a structure of calmodulin bound to a peptide from dap ki 719 Zimmer Variants: 719 chr9:90322023:G:A 4293_4037_1346_S->N 719 HGMD Variants: 719 chr9:90322023:G:A 4293_4037_1346_S->N 719 oneKG Variants: 719 chr9:90114051:G:T 4293_59_20_G->V 0.000199681 719 chr9:90219972:G:T 4293_166_56_V->L 0.000199681 719 chr9:90220002:A:C 4293_196_66_S->R 0.000199681 719 chr9:90220003:G:A 4293_197_66_S->N 0.000199681 719 chr9:90220071:G:A 4293_265_89_V->I 0.000199681 719 chr9:90252914:A:G 4293_341_114_E->G 0.000199681 719 chr9:90254281:A:G 4293_436_146_M->V 0.000199681 719 chr9:90255293:A:G 4293_710_237_E->G 0.000199681 719 chr9:90261410:G:A 4293_1166_389_C->Y 0.000199681 719 chr9:90261423:A:T 4293_1179_393_Q->H 0.000199681 719 chr9:90261460:G:A 4293_1216_406_D->N 0.000199681 719 chr9:90261467:A:G 4293_1223_408_Q->R 0.000399361 719 chr9:90262235:G:A 4293_1246_416_V->I 0.101837 719 chr9:90264923:A:G 4293_1516_506_I->V 0.000199681 719 chr9:90264939:G:A 4293_1532_511_G->E 0.000199681 719 chr9:90266445:G:A 4293_1630_544_G->R 0.000199681 719 chr9:90266449:A:T 4293_1634_545_H->L 0.000399361 719 chr9:90266509:G:T 4293_1694_565_S->I 0.000199681 719 chr9:90266521:T:C 4293_1706_569_F->S 0.000199681 719 chr9:90272969:C:T 4293_1850_617_A->V 0.000199681 719 chr9:90272985:C:G 4293_1866_622_I->M 0.000998403 719 chr9:90272998:C:T 4293_1879_627_R->W 0.000599042 719 chr9:90273025:G:A 4293_1906_636_V->I 0.000199681 719 chr9:90283560:G:T 4293_1972_658_V->L 0.00119808 719 chr9:90283585:G:A 4293_1997_666_R->Q 0.000199681 719 chr9:90296338:T:C 4293_2021_674_F->S 0.000199681 719 chr9:90296339:C:G 4293_2022_674_F->L 0.000199681 719 chr9:90296383:A:G 4293_2066_689_K->R 0.000199681 719 chr9:90296530:C:T 4293_2213_738_S->F 0.000798722 719 chr9:90301572:T:A 4293_2331_777_F->L 0.000199681 719 chr9:90301601:C:T 4293_2360_787_S->L 0.000199681 719 chr9:90312104:G:T 4293_2596_866_V->F 0.000199681 719 chr9:90313638:T:G 4293_2679_893_N->K 0.000199681 719 chr9:90315091:G:C 4293_2810_937_G->A 0.000798722 719 chr9:90317995:T:C 4293_2923_975_S->P 0.000199681 719 chr9:90318055:G:A 4293_2983_995_V->M 0.000199681 719 chr9:90318101:G:A 4293_3029_1010_R->H 0.000798722 719 chr9:90321063:G:C 4293_3077_1026_S->T 0.000199681 719 chr9:90321116:G:A 4293_3130_1044_V->I 0.000199681 719 chr9:90321149:C:T 4293_3163_1055_R->W 0.000199681 719 chr9:90321173:C:T 4293_3187_1063_R->C 0.000199681 719 chr9:90321182:G:A 4293_3196_1066_V->M 0.000599042 719 chr9:90321282:C:G 4293_3296_1099_T->S 0.000399361 719 chr9:90321293:G:A 4293_3307_1103_V->I 0.000199681 719 chr9:90321480:C:T 4293_3494_1165_A->V 0.000399361 719 chr9:90321627:C:T 4293_3641_1214_S->L 0.00159744 719 chr9:90321660:C:G 4293_3674_1225_T->S 0.000199681 719 chr9:90321731:G:A 4293_3745_1249_V->I 0.000399361 719 chr9:90321802:G:T 4293_3816_1272_M->I 0.000599042 719 chr9:90322017:A:C 4293_4031_1344_N->T 0.000599042 719 chr9:90322023:G:A 4293_4037_1346_S->N 0.34405 719 chr9:90322029:G:T 4293_4043_1348_G->V 0.000599042 719 chr9:90322200:G:T 4293_4214_1405_G->V 0.0175719 719 chr9:90322220:G:C 4293_4234_1412_A->P 0.000199681 719 na12878 Variants: 719 chr9:90322023:G:A 4293_4037_1346_S->N 719 snyder Variants: 719 chr9:90322023:G:A 4293_4037_1346_S->N --- complete ---