17 | g.72123904_72123987del | CA913189140 | SOX9 | c.1047_1130del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123906_72123989del | CA2639603158 | SOX9 | c.1049_1132del (p.Pro350_Pro377del)
| gnomAD v4 |
17 | g.72123916_72123962del | CA2695226902 | SOX9 | c.1059_1105del (p.Pro354AlafsTer?)
| |
17 | g.72123929_72123982del | CA2810344963 | SOX9 | c.1072_1125del (p.Ala358_Gln375del)
| |
17 | g.72123932_72123949del | CA2639603162 | SOX9 | c.1075_1092del (p.Pro359_Ala364del)
| gnomAD v4 |
17 | g.72123927_72123969del | CA2695226903 | SOX9 | c.1070_1112del (p.Gln357ArgfsTer12)
| |
17 | g.72123927_72123948delinsAGGCGCCCCCGCAGCCGCAGGC | CA2273926533 | SOX9 | c.1070_1091delinsAGGCGCCCCCGCAGCCGCAGGC (p.Gln357=)
| |
17 | g.72123937_72123957dup | CA627589963 | SOX9 | c.1080_1100dup (p.Pro367_Gln368insGlnProGlnAlaAlaProPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123937_72123957del | CA8739085 | SOX9 | c.1080_1100del (p.Gln361_Pro367del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123931_72123972del | CA2639603163 | SOX9 | c.1074_1115del (p.Pro359_Ala372del)
| gnomAD v4 |
17 | g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG | CA2273926542 | SOX9 | c.1077_1095delinsCCCGCAGCCGCAGGCGGCG (p.Pro359=)
| |
17 | g.72123937_72123954del | CA8739088 | SOX9 | c.1080_1097del (p.Gln361_Pro366del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123936_72123960delinsCGCAGCCGCAGGCGGCGCCCCCACA | CA2273926544 | SOX9 | c.1079_1103delinsCGCAGCCGCAGGCGGCGCCCCCACA (p.Pro360=)
| |
17 | g.72123944_72123967dup | CA2639603165 | SOX9 | c.1087_1110dup (p.Pro370_Ala371insGlnAlaAlaProProGlnGlnPro)
| gnomAD v4 |
17 | g.72123944_72123967del | CA774801397 | SOX9 | c.1087_1110del (p.Gln363_Pro370del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123942_72123962del | CA2639603167 | SOX9 | c.1085_1105del (p.Pro362_Gln368del)
| gnomAD v4 |
17 | g.72123944_72123949del | CA986080816 | SOX9 | c.1087_1092del (p.Gln363_Ala364del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123945_72123965del | CA2639603168 | SOX9 | c.1088_1108del (p.Gln363_Gln369del)
| gnomAD v4 |
17 | g.72123950_72123994del | CA2639603169 | SOX9 | c.1093_1137del (p.Ala365_Ala379del)
| gnomAD v4 |
17 | g.72123945_72123966delinsAGGCGGCGCCCCCACAGCAGCC | CA2273926552 | SOX9 | c.1088_1109delinsAGGCGGCGCCCCCACAGCAGCC (p.Gln363=)
| |
17 | g.72123952_72123972dup | CA2639603170 | SOX9 | c.1095_1115dup (p.Ala372_Pro373insProProGlnGlnProAlaAla)
| gnomAD v4 |
17 | g.72123952_72123972del | CA8739089 | SOX9 | c.1095_1115del (p.Pro366_Ala372del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123948C>A | CA293783697 | SOX9 | c.1091C>A (p.Ala364Glu)
| dbSNP gnomAD v4 |
17 | g.72123948C= | CA2273926555 | SOX9 | c.1091C= (p.Ala364=)
| |
17 | g.72123948C>G | CA400867696 | SOX9 | c.1091C>G (p.Ala364Gly)
| gnomAD v4 |
17 | g.72123948C>T | CA8739091 | SOX9 | c.1091C>T (p.Ala364Val)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.72123949G>A | CA8739092 | SOX9 | c.1092G>A (p.Ala364=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123949G>C | CA501432735 | SOX9 | c.1092G>C (p.Ala364=)
| dbSNP |
17 | g.72123949G= | CA2273926556 | SOX9 | c.1092G= (p.Ala364=)
| |
17 | g.72123949G>T | CA501432736 | SOX9 | c.1092G>T (p.Ala364=)
| dbSNP gnomAD v4 |
17 | g.72123950G>A | CA400867697 | SOX9 | c.1093G>A (p.Ala365Thr)
| dbSNP gnomAD v4 |
17 | g.72123950G>C | CA400867698 | SOX9 | c.1093G>C (p.Ala365Pro)
| dbSNP |
17 | g.72123950G= | CA2273926557 | SOX9 | c.1093G= (p.Ala365=)
| |
17 | g.72123950G>T | CA293783716 | SOX9 | c.1093G>T (p.Ala365Ser)
| dbSNP |
17 | g.72123951C>A | CA400867699 | SOX9 | c.1094C>A (p.Ala365Glu)
| dbSNP gnomAD v4 |
17 | g.72123951C= | CA2273926558 | SOX9 | c.1094C= (p.Ala365=)
| |
17 | g.72123951C>G | CA400867700 | SOX9 | c.1094C>G (p.Ala365Gly)
| dbSNP gnomAD v4 |
17 | g.72123951C>T | CA400867701 | SOX9 | c.1094C>T (p.Ala365Val)
| dbSNP gnomAD v4 |
17 | g.72123952del | CA2639603173 | SOX9 | c.1095del (p.Pro367HisfsTer16)
| gnomAD v4 |
17 | g.72123952G>A | CA8739094 | SOX9 | c.1095G>A (p.Ala365=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123952G>C | CA501432737 | SOX9 | c.1095G>C (p.Ala365=)
| gnomAD v4 |
17 | g.72123952G= | CA2273926560 | SOX9 | c.1095G= (p.Ala365=)
| |
17 | g.72123952G>T | CA501432738 | SOX9 | c.1095G>T (p.Ala365=)
| gnomAD v4 |
17 | g.72123952delinsAT | CA2695226904 | SOX9 | c.1095delinsAT (p.Pro366SerfsTer?)
| |
17 | g.72123952_72123973delinsGCCCCCACAGCAGCCGGCGGCA | CA2273926559 | SOX9 | c.1095_1116delinsGCCCCCACAGCAGCCGGCGGCA (p.Ala365=)
| |
17 | g.72123953C>A | CA400867703 | SOX9 | c.1096C>A (p.Pro366Thr)
| dbSNP gnomAD v4 |
17 | g.72123953C= | CA2273926561 | SOX9 | c.1096C= (p.Pro366=)
| |
17 | g.72123953C>G | CA400867702 | SOX9 | c.1096C>G (p.Pro366Ala)
| dbSNP |
17 | g.72123953C>T | CA8739095 | SOX9 | c.1096C>T (p.Pro366Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123957dup | CA658798969 | SOX9 | c.1100dup (p.Gln368ThrfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123957del | CA501432739 | SOX9 | c.1100del (p.Pro367HisfsTer16)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123958_72123978dup | CA2639603181 | SOX9 | c.1101_1121dup (p.Pro374_Gln375insGlnGlnProAlaAlaProPro)
| gnomAD v4 |
17 | g.72123958_72123978del | CA8739093 | SOX9 | c.1101_1121del (p.Gln368_Pro374del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123954C>A | CA400867704 | SOX9 | c.1097C>A (p.Pro366His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123954C= | CA2273926562 | SOX9 | c.1097C= (p.Pro366=)
| |
17 | g.72123954C>G | CA400867705 | SOX9 | c.1097C>G (p.Pro366Arg)
| |
17 | g.72123954C>T | CA400867706 | SOX9 | c.1097C>T (p.Pro366Leu)
| dbSNP gnomAD v4 |
17 | g.72123955C>A | CA501432741 | SOX9 | c.1098C>A (p.Pro366=)
| gnomAD v4 |
17 | g.72123955C= | CA2273926563 | SOX9 | c.1098C= (p.Pro366=)
| |
17 | g.72123955C>G | CA501432742 | SOX9 | c.1098C>G (p.Pro366=)
| dbSNP |
17 | g.72123955C>T | CA501432740 | SOX9 | c.1098C>T (p.Pro366=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123955_72123957delinsCCC | CA2273926564 | SOX9 | c.1098_1100delinsCCC (p.Pro366=)
| |
17 | g.72123956C>A | CA400867707 | SOX9 | c.1099C>A (p.Pro367Thr)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123956C= | CA2273926565 | SOX9 | c.1099C= (p.Pro367=)
| |
17 | g.72123956C>G | CA8739096 | SOX9 | c.1099C>G (p.Pro367Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123956C>T | CA400867708 | SOX9 | c.1099C>T (p.Pro367Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123956_72123957delinsG | CA658653846 | SOX9 | c.1099_1100delinsG (p.Pro367AspfsTer16)
| ClinVar dbSNP |
17 | g.72123957C>A | CA400867709 | SOX9 | c.1100C>A (p.Pro367Gln)
| dbSNP gnomAD v4 |
17 | g.72123957C= | CA2273926566 | SOX9 | c.1100C= (p.Pro367=)
| |
17 | g.72123957C>G | CA400867710 | SOX9 | c.1100C>G (p.Pro367Arg)
| ClinVar gnomAD v4 |
17 | g.72123957C>T | CA400867711 | SOX9 | c.1100C>T (p.Pro367Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123958A= | CA2273926567 | SOX9 | c.1101A= (p.Pro367=)
| |
17 | g.72123958A>C | CA501432745 | SOX9 | c.1101A>C (p.Pro367=)
| gnomAD v4 |
17 | g.72123958A>G | CA501432743 | SOX9 | c.1101A>G (p.Pro367=)
| dbSNP gnomAD v4 |
17 | g.72123958A>T | CA501432744 | SOX9 | c.1101A>T (p.Pro367=)
| |
17 | g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCG | CA2273926568 | SOX9 | c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG (p.Pro367=)
| |
17 | g.72123959C>A | CA400867714 | SOX9 | c.1102C>A (p.Gln368Lys)
| gnomAD v4 |
17 | g.72123959C= | CA2273926569 | SOX9 | c.1102C= (p.Gln368=)
| |
17 | g.72123959C>G | CA400867712 | SOX9 | c.1102C>G (p.Gln368Glu)
| gnomAD v4 |
17 | g.72123959C>T | CA400867713 | SOX9 | c.1102C>T (p.Gln368Ter)
| gnomAD v4 |
17 | g.72123967_72123987del | CA627589967 | SOX9 | c.1110_1130del (p.Ala371_Pro377del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123960A>C | CA400867715 | SOX9 | c.1103A>C (p.Gln368Pro)
| dbSNP |
17 | g.72123960A>G | CA400867716 | SOX9 | c.1103A>G (p.Gln368Arg)
| dbSNP gnomAD v4 |
17 | g.72123960A>T | CA400867717 | SOX9 | c.1103A>T (p.Gln368Leu)
| dbSNP |
17 | g.72123960dup | CA913185038 | SOX9 | c.1103dup (p.Gln369AlafsTer?)
| ClinVar dbSNP |
17 | g.72123961G>A | CA501432746 | SOX9 | c.1104G>A (p.Gln368=)
| dbSNP gnomAD v4 |
17 | g.72123961G>C | CA400867718 | SOX9 | c.1104G>C (p.Gln368His)
| dbSNP |
17 | g.72123961G>T | CA400867719 | SOX9 | c.1104G>T (p.Gln368His)
| gnomAD v4 |
17 | g.72123962C>A | CA400867720 | SOX9 | c.1105C>A (p.Gln369Lys)
| dbSNP gnomAD v4 |
17 | g.72123962C>G | CA400867721 | SOX9 | c.1105C>G (p.Gln369Glu)
| dbSNP |
17 | g.72123962C>T | CA400867722 | SOX9 | c.1105C>T (p.Gln369Ter)
| dbSNP gnomAD v4 COSMIC |
17 | g.72123963A= | CA2273926570 | SOX9 | c.1106A= (p.Gln369=)
| |
17 | g.72123963A>C | CA400867723 | SOX9 | c.1106A>C (p.Gln369Pro)
| dbSNP |
17 | g.72123963A>G | CA400867724 | SOX9 | c.1106A>G (p.Gln369Arg)
| dbSNP gnomAD v4 |
17 | g.72123963A>T | CA400867725 | SOX9 | c.1106A>T (p.Gln369Leu)
| dbSNP |
17 | g.72123964G>A | CA501432747 | SOX9 | c.1107G>A (p.Gln369=)
| dbSNP gnomAD v4 |
17 | g.72123964G>C | CA400867726 | SOX9 | c.1107G>C (p.Gln369His)
| dbSNP gnomAD v4 |
17 | g.72123964G>T | CA400867727 | SOX9 | c.1107G>T (p.Gln369His)
| gnomAD v4 |
17 | g.72123965C>A | CA400867729 | SOX9 | c.1108C>A (p.Pro370Thr)
| dbSNP gnomAD v4 |
17 | g.72123965C>G | CA400867730 | SOX9 | c.1108C>G (p.Pro370Ala)
| dbSNP |
17 | g.72123965C>T | CA400867728 | SOX9 | c.1108C>T (p.Pro370Ser)
| dbSNP gnomAD v4 |
17 | g.72123966del | CA645598935 | SOX9 | c.1109del (p.Pro370ArgfsTer13)
| COSMIC |
17 | g.72123966C>A | CA400867731 | SOX9 | c.1109C>A (p.Pro370Gln)
| dbSNP gnomAD v4 |
17 | g.72123966C= | CA2273926571 | SOX9 | c.1109C= (p.Pro370=)
| |
17 | g.72123966C>G | CA400867733 | SOX9 | c.1109C>G (p.Pro370Arg)
| gnomAD v4 |
17 | g.72123966C>T | CA400867732 | SOX9 | c.1109C>T (p.Pro370Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123967G>A | CA501432750 | SOX9 | c.1110G>A (p.Pro370=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123967G>C | CA501432748 | SOX9 | c.1110G>C (p.Pro370=)
| dbSNP |
17 | g.72123967G= | CA2273926573 | SOX9 | c.1110G= (p.Pro370=)
| |
17 | g.72123967G>T | CA501432749 | SOX9 | c.1110G>T (p.Pro370=)
| |
17 | g.72123967_72123968insCAG | CA2273926572 | SOX9 | c.1110_1111insCAG (p.Pro370_Ala371insGln)
| dbSNP |
17 | g.72123968G>A | CA400867734 | SOX9 | c.1111G>A (p.Ala371Thr)
| dbSNP gnomAD v4 |
17 | g.72123968G>C | CA400867735 | SOX9 | c.1111G>C (p.Ala371Pro)
| |
17 | g.72123968G>T | CA400867736 | SOX9 | c.1111G>T (p.Ala371Ser)
| gnomAD v4 |
17 | g.72123969C>A | CA8739098 | SOX9 | c.1112C>A (p.Ala371Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123969C= | CA2273926574 | SOX9 | c.1112C= (p.Ala371=)
| |
17 | g.72123969C>G | CA400867737 | SOX9 | c.1112C>G (p.Ala371Gly)
| dbSNP |
17 | g.72123969C>T | CA8739097 | SOX9 | c.1112C>T (p.Ala371Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123970G>A | CA202244 | SOX9 | c.1113G>A (p.Ala371=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123970G>C | CA501432751 | SOX9 | c.1113G>C (p.Ala371=)
| dbSNP |
17 | g.72123970G= | CA2273926575 | SOX9 | c.1113G= (p.Ala371=)
| |
17 | g.72123970G>T | CA8739099 | SOX9 | c.1113G>T (p.Ala371=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123971G>A | CA8739100 | SOX9 | c.1114G>A (p.Ala372Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123971G>C | CA400867738 | SOX9 | c.1114G>C (p.Ala372Pro)
| dbSNP gnomAD v4 |
17 | g.72123971G= | CA2273926576 | SOX9 | c.1114G= (p.Ala372=)
| |
17 | g.72123971G>T | CA400867739 | SOX9 | c.1114G>T (p.Ala372Ser)
| gnomAD v4 |
17 | g.72123972C>A | CA400867742 | SOX9 | c.1115C>A (p.Ala372Glu)
| gnomAD v4 |
17 | g.72123972C= | CA2273926577 | SOX9 | c.1115C= (p.Ala372=)
| |
17 | g.72123972C>G | CA400867741 | SOX9 | c.1115C>G (p.Ala372Gly)
| |
17 | g.72123972C>T | CA400867740 | SOX9 | c.1115C>T (p.Ala372Val)
| dbSNP gnomAD v4 |
17 | g.72123973_72123974del | CA2499224894 | SOX9 | c.1116_1117del (p.Pro374AlafsTer?)
| ClinVar dbSNP |
17 | g.72123973A= | CA2273926578 | SOX9 | c.1116A= (p.Ala372=)
| |
17 | g.72123973A>C | CA293783758 | SOX9 | c.1116A>C (p.Ala372=)
| dbSNP |
17 | g.72123973A>G | CA501432752 | SOX9 | c.1116A>G (p.Ala372=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123973A>T | CA501432753 | SOX9 | c.1116A>T (p.Ala372=)
| |
17 | g.72123974C>A | CA400867743 | SOX9 | c.1117C>A (p.Pro373Thr)
| dbSNP gnomAD v4 |
17 | g.72123974C= | CA2273926579 | SOX9 | c.1117C= (p.Pro373=)
| |
17 | g.72123974C>G | CA400867744 | SOX9 | c.1117C>G (p.Pro373Ala)
| dbSNP gnomAD v4 |
17 | g.72123974C>T | CA400867745 | SOX9 | c.1117C>T (p.Pro373Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123978dup | CA2639603205 | SOX9 | c.1121dup (p.Gln375AlafsTer?)
| gnomAD v4 |
17 | g.72123978del | CA2639603206 | SOX9 | c.1121del (p.Pro374ArgfsTer9)
| gnomAD v4 |
17 | g.72123975C>A | CA400867746 | SOX9 | c.1118C>A (p.Pro373His)
| gnomAD v4 |
17 | g.72123975C= | CA2273926580 | SOX9 | c.1118C= (p.Pro373=)
| |
17 | g.72123975C>G | CA293783760 | SOX9 | c.1118C>G (p.Pro373Arg)
| dbSNP |
17 | g.72123975C>T | CA400867747 | SOX9 | c.1118C>T (p.Pro373Leu)
| |
17 | g.72123976C>A | CA501432754 | SOX9 | c.1119C>A (p.Pro373=)
| dbSNP gnomAD v4 |
17 | g.72123976C= | CA2273926581 | SOX9 | c.1119C= (p.Pro373=)
| |
17 | g.72123976C>G | CA501432755 | SOX9 | c.1119C>G (p.Pro373=)
| |
17 | g.72123976C>T | CA8739101 | SOX9 | c.1119C>T (p.Pro373=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123977C>A | CA8739102 | SOX9 | c.1120C>A (p.Pro374Thr)
| dbSNP ExAC gnomAD v2 |
17 | g.72123977C= | CA2273926582 | SOX9 | c.1120C= (p.Pro374=)
| |
17 | g.72123977C>G | CA400867748 | SOX9 | c.1120C>G (p.Pro374Ala)
| dbSNP |
17 | g.72123977C>T | CA8739103 | SOX9 | c.1120C>T (p.Pro374Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123978C>A | CA400867749 | SOX9 | c.1121C>A (p.Pro374Gln)
| dbSNP gnomAD v4 |
17 | g.72123978C= | CA2273926583 | SOX9 | c.1121C= (p.Pro374=)
| |
17 | g.72123978C>G | CA8739104 | SOX9 | c.1121C>G (p.Pro374Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123978C>T | CA400867750 | SOX9 | c.1121C>T (p.Pro374Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72123979del | CA2639603207 | SOX9 | c.1122del (p.Gln375SerfsTer8)
| gnomAD v4 |
17 | g.72123979G>A | CA293783800 | SOX9 | c.1122G>A (p.Pro374=)
| dbSNP gnomAD v4 |
17 | g.72123979G>C | CA501432756 | SOX9 | c.1122G>C (p.Pro374=)
| dbSNP |
17 | g.72123979G= | CA2273926584 | SOX9 | c.1122G= (p.Pro374=)
| |
17 | g.72123979G>T | CA8739105 | SOX9 | c.1122G>T (p.Pro374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123980del | CA2639603208 | SOX9 | c.1123del (p.Gln375SerfsTer8)
| gnomAD v4 |
17 | g.72123980C>A | CA400867751 | SOX9 | c.1123C>A (p.Gln375Lys)
| dbSNP gnomAD v4 |
17 | g.72123980C>G | CA400867752 | SOX9 | c.1123C>G (p.Gln375Glu)
| gnomAD v4 |
17 | g.72123980C>T | CA400867753 | SOX9 | c.1123C>T (p.Gln375Ter)
| dbSNP gnomAD v4 |
17 | g.72123981A= | CA2273926585 | SOX9 | c.1124A= (p.Gln375=)
| |
17 | g.72123981A>C | CA400867754 | SOX9 | c.1124A>C (p.Gln375Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123981A>G | CA400867755 | SOX9 | c.1124A>G (p.Gln375Arg)
| dbSNP gnomAD v4 |
17 | g.72123981A>T | CA400867756 | SOX9 | c.1124A>T (p.Gln375Leu)
| dbSNP |
17 | g.72123982G>A | CA501432757 | SOX9 | c.1125G>A (p.Gln375=)
| dbSNP gnomAD v4 |
17 | g.72123982G>C | CA400867757 | SOX9 | c.1125G>C (p.Gln375His)
| dbSNP COSMIC |
17 | g.72123982G>T | CA400867758 | SOX9 | c.1125G>T (p.Gln375His)
| gnomAD v4 |
17 | g.72123983C>A | CA400867759 | SOX9 | c.1126C>A (p.Gln376Lys)
| dbSNP gnomAD v4 |
17 | g.72123983C>G | CA400867760 | SOX9 | c.1126C>G (p.Gln376Glu)
| ClinVar dbSNP |
17 | g.72123983C>T | CA400867761 | SOX9 | c.1126C>T (p.Gln376Ter)
| dbSNP gnomAD v4 |
17 | g.72123984A>C | CA400867762 | SOX9 | c.1127A>C (p.Gln376Pro)
| dbSNP |
17 | g.72123984A>G | CA400867763 | SOX9 | c.1127A>G (p.Gln376Arg)
| dbSNP gnomAD v4 |
17 | g.72123984A>T | CA400867764 | SOX9 | c.1127A>T (p.Gln376Leu)
| dbSNP |
17 | g.72123985G>A | CA501432758 | SOX9 | c.1128G>A (p.Gln376=)
| gnomAD v4 |
17 | g.72123985G>C | CA400867766 | SOX9 | c.1128G>C (p.Gln376His)
| |
17 | g.72123985G>T | CA400867765 | SOX9 | c.1128G>T (p.Gln376His)
| gnomAD v4 |
17 | g.72123986C>A | CA400867767 | SOX9 | c.1129C>A (p.Pro377Thr)
| dbSNP gnomAD v4 |
17 | g.72123986C>G | CA400867768 | SOX9 | c.1129C>G (p.Pro377Ala)
| dbSNP |
17 | g.72123986C>T | CA400867769 | SOX9 | c.1129C>T (p.Pro377Ser)
| dbSNP gnomAD v4 |
17 | g.72123987del | CA2639603209 | SOX9 | c.1130del (p.Pro377HisfsTer6)
| gnomAD v4 |
17 | g.72123987C>A | CA400867770 | SOX9 | c.1130C>A (p.Pro377Gln)
| gnomAD v4 |
17 | g.72123987C>G | CA400867771 | SOX9 | c.1130C>G (p.Pro377Arg)
| |
17 | g.72123987C>T | CA400867772 | SOX9 | c.1130C>T (p.Pro377Leu)
| dbSNP |
17 | g.72123988A>C | CA501432759 | SOX9 | c.1131A>C (p.Pro377=)
| dbSNP |
17 | g.72123988A>G | CA501432760 | SOX9 | c.1131A>G (p.Pro377=)
| dbSNP |
17 | g.72123988A>T | CA501432761 | SOX9 | c.1131A>T (p.Pro377=)
| dbSNP |
17 | g.72123989C>A | CA400867775 | SOX9 | c.1132C>A (p.Gln378Lys)
| gnomAD v4 |
17 | g.72123989C>G | CA400867773 | SOX9 | c.1132C>G (p.Gln378Glu)
| dbSNP |
17 | g.72123989C>T | CA400867774 | SOX9 | c.1132C>T (p.Gln378Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123990A= | CA2273926586 | SOX9 | c.1133A= (p.Gln378=)
| |
17 | g.72123990A>C | CA400867776 | SOX9 | c.1133A>C (p.Gln378Pro)
| dbSNP gnomAD v4 |
17 | g.72123990A>G | CA8739106 | SOX9 | c.1133A>G (p.Gln378Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123990A>T | CA400867777 | SOX9 | c.1133A>T (p.Gln378Leu)
| dbSNP gnomAD v4 |
17 | g.72123991G>A | CA501432762 | SOX9 | c.1134G>A (p.Gln378=)
| dbSNP gnomAD v4 |
17 | g.72123991G>C | CA400867778 | SOX9 | c.1134G>C (p.Gln378His)
| |
17 | g.72123991G>T | CA400867779 | SOX9 | c.1134G>T (p.Gln378His)
| |
17 | g.72123991_72123992dup | CA645598936 | SOX9 | c.1134_1135dup (p.Ala379GlyfsTer5)
| COSMIC |
17 | g.72123992G>A | CA400867782 | SOX9 | c.1135G>A (p.Ala379Thr)
| |
17 | g.72123992G>C | CA400867780 | SOX9 | c.1135G>C (p.Ala379Pro)
| |
17 | g.72123992G>T | CA400867781 | SOX9 | c.1135G>T (p.Ala379Ser)
| gnomAD v4 |
17 | g.72123993C>A | CA8739107 | SOX9 | c.1136C>A (p.Ala379Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72123993C= | CA2273926587 | SOX9 | c.1136C= (p.Ala379=)
| |
17 | g.72123993C>G | CA400867783 | SOX9 | c.1136C>G (p.Ala379Gly)
| dbSNP |
17 | g.72123993C>T | CA400867784 | SOX9 | c.1136C>T (p.Ala379Val)
| dbSNP gnomAD v4 |
17 | g.72123994G>A | CA8739108 | SOX9 | c.1137G>A (p.Ala379=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123994G>C | CA501432764 | SOX9 | c.1137G>C (p.Ala379=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72123994G= | CA2273926588 | SOX9 | c.1137G= (p.Ala379=)
| |
17 | g.72123994G>T | CA501432763 | SOX9 | c.1137G>T (p.Ala379=)
| gnomAD v4 |
17 | g.72123995C>A | CA400867785 | SOX9 | c.1138C>A (p.His380Asn)
| dbSNP gnomAD v4 |
17 | g.72123995C>G | CA400867786 | SOX9 | c.1138C>G (p.His380Asp)
| dbSNP |
17 | g.72123995C>T | CA400867787 | SOX9 | c.1138C>T (p.His380Tyr)
| |
17 | g.72123996A= | CA2273926590 | SOX9 | c.1139A= (p.His380=)
| |
17 | g.72123996A>C | CA400867790 | SOX9 | c.1139A>C (p.His380Pro)
| |
17 | g.72123996A>G | CA400867788 | SOX9 | c.1139A>G (p.His380Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72123996A>T | CA400867789 | SOX9 | c.1139A>T (p.His380Leu)
| |
17 | g.72123996_72124005delinsACACGCTGAC | CA2273926589 | SOX9 | c.1139_1148delinsACACGCTGAC (p.His380=)
| |
17 | g.72123997C>A | CA400867791 | SOX9 | c.1140C>A (p.His380Gln)
| gnomAD v4 |
17 | g.72123997C= | CA2273926592 | SOX9 | c.1140C= (p.His380=)
| |
17 | g.72123997C>G | CA400867792 | SOX9 | c.1140C>G (p.His380Gln)
| dbSNP |
17 | g.72123997C>T | CA501432839 | SOX9 | c.1140C>T (p.His380=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124005_72124013dup | CA627589915 | SOX9 | c.1148_1156dup (p.Leu385_Ser386insThrThrLeu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124005_72124013del | CA2273926591 | SOX9 | c.1148_1156del (p.Thr383_Leu385del)
| ClinVar dbSNP gnomAD v4 |
17 | g.72123998A>C | CA400867793 | SOX9 | c.1141A>C (p.Thr381Pro)
| dbSNP |
17 | g.72123998A>G | CA400867794 | SOX9 | c.1141A>G (p.Thr381Ala)
| |
17 | g.72123998A>T | CA400867795 | SOX9 | c.1141A>T (p.Thr381Ser)
| dbSNP |
17 | g.72123999C>A | CA400867796 | SOX9 | c.1142C>A (p.Thr381Lys)
| gnomAD v4 |
17 | g.72123999C>G | CA400867798 | SOX9 | c.1142C>G (p.Thr381Arg)
| |
17 | g.72123999C>T | CA400867797 | SOX9 | c.1142C>T (p.Thr381Met)
| gnomAD v4 |
17 | g.72124000G>A | CA8739110 | SOX9 | c.1143G>A (p.Thr381=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124000G>C | CA501432840 | SOX9 | c.1143G>C (p.Thr381=)
| dbSNP |
17 | g.72124000G= | CA2273926593 | SOX9 | c.1143G= (p.Thr381=)
| |
17 | g.72124000G>T | CA8739109 | SOX9 | c.1143G>T (p.Thr381=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124001C>A | CA400867799 | SOX9 | c.1144C>A (p.Leu382Met)
| dbSNP gnomAD v4 |
17 | g.72124001C= | CA2273926594 | SOX9 | c.1144C= (p.Leu382=)
| |
17 | g.72124001C>G | CA400867800 | SOX9 | c.1144C>G (p.Leu382Val)
| dbSNP |
17 | g.72124001C>T | CA293783840 | SOX9 | c.1144C>T (p.Leu382=)
| dbSNP gnomAD v4 |
17 | g.72124002T>A | CA400867801 | SOX9 | c.1145T>A (p.Leu382Gln)
| dbSNP |
17 | g.72124002T>C | CA400867802 | SOX9 | c.1145T>C (p.Leu382Pro)
| dbSNP |
17 | g.72124002T>G | CA400867803 | SOX9 | c.1145T>G (p.Leu382Arg)
| |
17 | g.72124003G>A | CA501432841 | SOX9 | c.1146G>A (p.Leu382=)
| dbSNP |
17 | g.72124003G>C | CA501432842 | SOX9 | c.1146G>C (p.Leu382=)
| dbSNP |
17 | g.72124003G= | CA2273926595 | SOX9 | c.1146G= (p.Leu382=)
| |
17 | g.72124003G>T | CA8739111 | SOX9 | c.1146G>T (p.Leu382=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124004A>C | CA400867804 | SOX9 | c.1147A>C (p.Thr383Pro)
| |
17 | g.72124004A>G | CA400867805 | SOX9 | c.1147A>G (p.Thr383Ala)
| |
17 | g.72124004A>T | CA400867806 | SOX9 | c.1147A>T (p.Thr383Ser)
| |
17 | g.72124005C>A | CA400867807 | SOX9 | c.1148C>A (p.Thr383Asn)
| gnomAD v4 |
17 | g.72124005C>G | CA400867809 | SOX9 | c.1148C>G (p.Thr383Ser)
| dbSNP |
17 | g.72124005C>T | CA400867808 | SOX9 | c.1148C>T (p.Thr383Ile)
| dbSNP |
17 | g.72124006C>A | CA501432843 | SOX9 | c.1149C>A (p.Thr383=)
| dbSNP gnomAD v4 |
17 | g.72124006C>G | CA501432845 | SOX9 | c.1149C>G (p.Thr383=)
| dbSNP |
17 | g.72124006C>T | CA501432844 | SOX9 | c.1149C>T (p.Thr383=)
| dbSNP gnomAD v4 |
17 | g.72124007A>C | CA400867810 | SOX9 | c.1150A>C (p.Thr384Pro)
| dbSNP |
17 | g.72124007A>G | CA400867811 | SOX9 | c.1150A>G (p.Thr384Ala)
| dbSNP |
17 | g.72124007A>T | CA400867812 | SOX9 | c.1150A>T (p.Thr384Ser)
| dbSNP gnomAD v4 |
17 | g.72124008C>A | CA400867813 | SOX9 | c.1151C>A (p.Thr384Lys)
| dbSNP gnomAD v4 |
17 | g.72124008C= | CA2273926596 | SOX9 | c.1151C= (p.Thr384=)
| |
17 | g.72124008C>G | CA400867814 | SOX9 | c.1151C>G (p.Thr384Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124008C>T | CA400867815 | SOX9 | c.1151C>T (p.Thr384Met)
| dbSNP gnomAD v4 |
17 | g.72124009G>A | CA501432846 | SOX9 | c.1152G>A (p.Thr384=)
| dbSNP gnomAD v4 |
17 | g.72124009G>C | CA501432847 | SOX9 | c.1152G>C (p.Thr384=)
| dbSNP |
17 | g.72124009G>T | CA501432848 | SOX9 | c.1152G>T (p.Thr384=)
| dbSNP gnomAD v4 |
17 | g.72124010C>A | CA400867817 | SOX9 | c.1153C>A (p.Leu385Met)
| dbSNP gnomAD v4 |
17 | g.72124010C>G | CA400867816 | SOX9 | c.1153C>G (p.Leu385Val)
| dbSNP |
17 | g.72124010C>T | CA501432849 | SOX9 | c.1153C>T (p.Leu385=)
| dbSNP |
17 | g.72124011T>A | CA400867818 | SOX9 | c.1154T>A (p.Leu385Gln)
| dbSNP |
17 | g.72124011T>C | CA400867819 | SOX9 | c.1154T>C (p.Leu385Pro)
| dbSNP |
17 | g.72124011T>G | CA8739112 | SOX9 | c.1154T>G (p.Leu385Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124011T= | CA2273926597 | SOX9 | c.1154T= (p.Leu385=)
| |
17 | g.72124012G>A | CA501432850 | SOX9 | c.1155G>A (p.Leu385=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124012G>C | CA501432851 | SOX9 | c.1155G>C (p.Leu385=)
| dbSNP |
17 | g.72124012G= | CA2273926598 | SOX9 | c.1155G= (p.Leu385=)
| |
17 | g.72124012G>T | CA501432852 | SOX9 | c.1155G>T (p.Leu385=)
| |
17 | g.72124013A= | CA2273926600 | SOX9 | c.1156A= (p.Ser386=)
| |
17 | g.72124013A>C | CA400867820 | SOX9 | c.1156A>C (p.Ser386Arg)
| |
17 | g.72124013A>G | CA400867821 | SOX9 | c.1156A>G (p.Ser386Gly)
| dbSNP |
17 | g.72124013A>T | CA400867822 | SOX9 | c.1156A>T (p.Ser386Cys)
| dbSNP |
17 | g.72124016_72124018dup | CA2273926599 | SOX9 | c.1159_1161dup (p.Ser387_Glu388insSer)
| dbSNP |
17 | g.72124014G>A | CA400867823 | SOX9 | c.1157G>A (p.Ser386Asn)
| dbSNP |
17 | g.72124014G>C | CA400867825 | SOX9 | c.1157G>C (p.Ser386Thr)
| dbSNP |
17 | g.72124014G>T | CA400867824 | SOX9 | c.1157G>T (p.Ser386Ile)
| |
17 | g.72124015C>A | CA400867826 | SOX9 | c.1158C>A (p.Ser386Arg)
| gnomAD v4 |
17 | g.72124015C= | CA2273926601 | SOX9 | c.1158C= (p.Ser386=)
| |
17 | g.72124015C>G | CA400867827 | SOX9 | c.1158C>G (p.Ser386Arg)
| dbSNP |
17 | g.72124015C>T | CA501432853 | SOX9 | c.1158C>T (p.Ser386=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124016A>C | CA400867828 | SOX9 | c.1159A>C (p.Ser387Arg)
| |
17 | g.72124016A>G | CA400867829 | SOX9 | c.1159A>G (p.Ser387Gly)
| dbSNP |
17 | g.72124016A>T | CA400867830 | SOX9 | c.1159A>T (p.Ser387Cys)
| dbSNP |
17 | g.72124017G>A | CA400867831 | SOX9 | c.1160G>A (p.Ser387Asn)
| dbSNP gnomAD v4 |
17 | g.72124017G>C | CA400867832 | SOX9 | c.1160G>C (p.Ser387Thr)
| dbSNP |
17 | g.72124017G>T | CA400867833 | SOX9 | c.1160G>T (p.Ser387Ile)
| |
17 | g.72124018C>A | CA400867834 | SOX9 | c.1161C>A (p.Ser387Arg)
| dbSNP gnomAD v4 |
17 | g.72124018C= | CA2273926602 | SOX9 | c.1161C= (p.Ser387=)
| |
17 | g.72124018C>G | CA400867835 | SOX9 | c.1161C>G (p.Ser387Arg)
| dbSNP |
17 | g.72124018C>T | CA501432854 | SOX9 | c.1161C>T (p.Ser387=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124019G>A | CA8739113 | SOX9 | c.1162G>A (p.Glu388Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124019G>C | CA400867837 | SOX9 | c.1162G>C (p.Glu388Gln)
| dbSNP |
17 | g.72124019G= | CA2273926603 | SOX9 | c.1162G= (p.Glu388=)
| |
17 | g.72124019G>T | CA400867836 | SOX9 | c.1162G>T (p.Glu388Ter)
| |
17 | g.72124020A>C | CA400867838 | SOX9 | c.1163A>C (p.Glu388Ala)
| dbSNP |
17 | g.72124020A>G | CA400867840 | SOX9 | c.1163A>G (p.Glu388Gly)
| dbSNP |
17 | g.72124020A>T | CA400867839 | SOX9 | c.1163A>T (p.Glu388Val)
| dbSNP |
17 | g.72124021G>A | CA501432855 | SOX9 | c.1164G>A (p.Glu388=)
| dbSNP |
17 | g.72124021G>C | CA400867841 | SOX9 | c.1164G>C (p.Glu388Asp)
| dbSNP gnomAD v4 |
17 | g.72124021G= | CA2273926604 | SOX9 | c.1164G= (p.Glu388=)
| |
17 | g.72124021G>T | CA400867842 | SOX9 | c.1164G>T (p.Glu388Asp)
| gnomAD v4 |
17 | g.72124022C>A | CA8739114 | SOX9 | c.1165C>A (p.Pro389Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124022C= | CA2273926605 | SOX9 | c.1165C= (p.Pro389=)
| |
17 | g.72124022C>G | CA400867843 | SOX9 | c.1165C>G (p.Pro389Ala)
| dbSNP |
17 | g.72124022C>T | CA400867844 | SOX9 | c.1165C>T (p.Pro389Ser)
| dbSNP gnomAD v4 |
17 | g.72124023C>A | CA400867845 | SOX9 | c.1166C>A (p.Pro389Gln)
| gnomAD v4 |
17 | g.72124023C>G | CA400867846 | SOX9 | c.1166C>G (p.Pro389Arg)
| dbSNP gnomAD v4 |
17 | g.72124023C>T | CA400867847 | SOX9 | c.1166C>T (p.Pro389Leu)
| gnomAD v4 |
17 | g.72124024G>A | CA8739115 | SOX9 | c.1167G>A (p.Pro389=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124024G>C | CA501432856 | SOX9 | c.1167G>C (p.Pro389=)
| dbSNP |
17 | g.72124024G= | CA2273926606 | SOX9 | c.1167G= (p.Pro389=)
| |
17 | g.72124024G>T | CA501432857 | SOX9 | c.1167G>T (p.Pro389=)
| dbSNP |
17 | g.72124025G>A | CA8739116 | SOX9 | c.1168G>A (p.Gly390Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124025G>C | CA400867848 | SOX9 | c.1168G>C (p.Gly390Arg)
| dbSNP |
17 | g.72124025G= | CA2273926607 | SOX9 | c.1168G= (p.Gly390=)
| |
17 | g.72124025G>T | CA400867849 | SOX9 | c.1168G>T (p.Gly390Cys)
| dbSNP |
17 | g.72124026G>A | CA400867851 | SOX9 | c.1169G>A (p.Gly390Asp)
| gnomAD v4 |
17 | g.72124026G>C | CA8739117 | SOX9 | c.1169G>C (p.Gly390Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124026G= | CA2273926608 | SOX9 | c.1169G= (p.Gly390=)
| |
17 | g.72124026G>T | CA400867850 | SOX9 | c.1169G>T (p.Gly390Val)
| gnomAD v4 |
17 | g.72124027C>A | CA8739118 | SOX9 | c.1170C>A (p.Gly390=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.72124027C= | CA2273926609 | SOX9 | c.1170C= (p.Gly390=)
| |
17 | g.72124027C>G | CA501432858 | SOX9 | c.1170C>G (p.Gly390=)
| dbSNP |
17 | g.72124027C>T | CA501432859 | SOX9 | c.1170C>T (p.Gly390=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124028del | CA2734006131 | SOX9 | c.1171del (p.Gln391SerfsTer12)
| dbSNP |
17 | g.72124028C>A | CA400867852 | SOX9 | c.1171C>A (p.Gln391Lys)
| dbSNP gnomAD v4 |
17 | g.72124028C>G | CA400867853 | SOX9 | c.1171C>G (p.Gln391Glu)
| dbSNP |
17 | g.72124028C>T | CA400867854 | SOX9 | c.1171C>T (p.Gln391Ter)
| dbSNP |
17 | g.72124029A= | CA2273926610 | SOX9 | c.1172A= (p.Gln391=)
| |
17 | g.72124029A>C | CA400867855 | SOX9 | c.1172A>C (p.Gln391Pro)
| dbSNP gnomAD v4 |
17 | g.72124029A>G | CA400867856 | SOX9 | c.1172A>G (p.Gln391Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124029A>T | CA400867857 | SOX9 | c.1172A>T (p.Gln391Leu)
| dbSNP |
17 | g.72124030G>A | CA501432860 | SOX9 | c.1173G>A (p.Gln391=)
| dbSNP gnomAD v4 |
17 | g.72124030G>C | CA400867858 | SOX9 | c.1173G>C (p.Gln391His)
| dbSNP |
17 | g.72124030G>T | CA400867859 | SOX9 | c.1173G>T (p.Gln391His)
| |
17 | g.72124031T>A | CA400867860 | SOX9 | c.1174T>A (p.Ser392Thr)
| |
17 | g.72124031T>C | CA400867861 | SOX9 | c.1174T>C (p.Ser392Pro)
| gnomAD v4 |
17 | g.72124031T>G | CA400867862 | SOX9 | c.1174T>G (p.Ser392Ala)
| |
17 | g.72124032C>A | CA400867864 | SOX9 | c.1175C>A (p.Ser392Tyr)
| dbSNP |
17 | g.72124032C= | CA2273926611 | SOX9 | c.1175C= (p.Ser392=)
| |
17 | g.72124032C>G | CA400867865 | SOX9 | c.1175C>G (p.Ser392Cys)
| dbSNP |
17 | g.72124032C>T | CA400867863 | SOX9 | c.1175C>T (p.Ser392Phe)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124033C>A | CA501432861 | SOX9 | c.1176C>A (p.Ser392=)
| dbSNP |
17 | g.72124033C= | CA2273926612 | SOX9 | c.1176C= (p.Ser392=)
| |
17 | g.72124033C>G | CA501432862 | SOX9 | c.1176C>G (p.Ser392=)
| dbSNP |
17 | g.72124033C>T | CA8739119 | SOX9 | c.1176C>T (p.Ser392=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.72124034C>A | CA400867866 | SOX9 | c.1177C>A (p.Gln393Lys)
| dbSNP |
17 | g.72124034C= | CA2273926613 | SOX9 | c.1177C= (p.Gln393=)
| |
17 | g.72124034C>G | CA400867867 | SOX9 | c.1177C>G (p.Gln393Glu)
| |
17 | g.72124034C>T | CA400867868 | SOX9 | c.1177C>T (p.Gln393Ter)
| ClinVar dbSNP COSMIC |
17 | g.72124035A= | CA2273926614 | SOX9 | c.1178A= (p.Gln393=)
| |
17 | g.72124035A>C | CA400867869 | SOX9 | c.1178A>C (p.Gln393Pro)
| dbSNP |
17 | g.72124035A>G | CA293783901 | SOX9 | c.1178A>G (p.Gln393Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124035A>T | CA400867870 | SOX9 | c.1178A>T (p.Gln393Leu)
| dbSNP |
17 | g.72124035_72124041delinsAGCGAAC | CA2273926615 | SOX9 | c.1178_1184delinsAGCGAAC (p.Gln393=)
| |
17 | g.72124036G>A | CA501432863 | SOX9 | c.1179G>A (p.Gln393=)
| dbSNP |
17 | g.72124036G>C | CA400867871 | SOX9 | c.1179G>C (p.Gln393His)
| dbSNP |
17 | g.72124036G>T | CA400867872 | SOX9 | c.1179G>T (p.Gln393His)
| dbSNP |
17 | g.72124038_72124043del | CA627589917 | SOX9 | c.1181_1186del (p.Arg394_Thr395del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124037C>A | CA501432864 | SOX9 | c.1180C>A (p.Arg394=)
| dbSNP gnomAD v2 |
17 | g.72124037C= | CA2273926616 | SOX9 | c.1180C= (p.Arg394=)
| |
17 | g.72124037C>G | CA400867873 | SOX9 | c.1180C>G (p.Arg394Gly)
| dbSNP |
17 | g.72124037C>T | CA16043058 | SOX9 | c.1180C>T (p.Arg394Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.72124037dup | CA645598832 | SOX9 | c.1180dup (p.Arg394ProfsTer?)
| COSMIC |
17 | g.72124038G>A | CA400867875 | SOX9 | c.1181G>A (p.Arg394Gln)
| dbSNP gnomAD v4 COSMIC |
17 | g.72124038G>C | CA400867876 | SOX9 | c.1181G>C (p.Arg394Pro)
| dbSNP COSMIC |
17 | g.72124038G>T | CA400867874 | SOX9 | c.1181G>T (p.Arg394Leu)
| dbSNP COSMIC |
17 | g.72124039A>C | CA501432865 | SOX9 | c.1182A>C (p.Arg394=)
| dbSNP |
17 | g.72124039A>G | CA501432866 | SOX9 | c.1182A>G (p.Arg394=)
| dbSNP |
17 | g.72124039A>T | CA501432867 | SOX9 | c.1182A>T (p.Arg394=)
| dbSNP |
17 | g.72124040A>C | CA400867877 | SOX9 | c.1183A>C (p.Thr395Pro)
| dbSNP |
17 | g.72124040A>G | CA400867878 | SOX9 | c.1183A>G (p.Thr395Ala)
| COSMIC |
17 | g.72124040A>T | CA400867879 | SOX9 | c.1183A>T (p.Thr395Ser)
| dbSNP |
17 | g.72124041C>A | CA400867880 | SOX9 | c.1184C>A (p.Thr395Lys)
| dbSNP |
17 | g.72124041C= | CA2273926617 | SOX9 | c.1184C= (p.Thr395=)
| |
17 | g.72124041C>G | CA400867881 | SOX9 | c.1184C>G (p.Thr395Arg)
| dbSNP gnomAD v4 |
17 | g.72124041C>T | CA400867882 | SOX9 | c.1184C>T (p.Thr395Met)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.72124042_72124043dup | CA645598833 | SOX9 | c.1185_1186dup (p.His396ArgfsTer8)
| COSMIC |
17 | g.72124042G>A | CA8739120 | SOX9 | c.1185G>A (p.Thr395=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124042G>C | CA501432868 | SOX9 | c.1185G>C (p.Thr395=)
| dbSNP |
17 | g.72124042G= | CA2273926618 | SOX9 | c.1185G= (p.Thr395=)
| |
17 | g.72124042G>T | CA8739121 | SOX9 | c.1185G>T (p.Thr395=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124043C>A | CA400867883 | SOX9 | c.1186C>A (p.His396Asn)
| |
17 | g.72124043C>G | CA400867884 | SOX9 | c.1186C>G (p.His396Asp)
| |
17 | g.72124043C>T | CA400867885 | SOX9 | c.1186C>T (p.His396Tyr)
| dbSNP |
17 | g.72124044A>C | CA400867886 | SOX9 | c.1187A>C (p.His396Pro)
| dbSNP |
17 | g.72124044A>G | CA400867887 | SOX9 | c.1187A>G (p.His396Arg)
| dbSNP |
17 | g.72124044A>T | CA400867888 | SOX9 | c.1187A>T (p.His396Leu)
| dbSNP |
17 | g.72124045C>A | CA400867889 | SOX9 | c.1188C>A (p.His396Gln)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.72124045C= | CA2273926619 | SOX9 | c.1188C= (p.His396=)
| |
17 | g.72124045C>G | CA400867890 | SOX9 | c.1188C>G (p.His396Gln)
| dbSNP |
17 | g.72124045C>T | CA501432869 | SOX9 | c.1188C>T (p.His396=)
| dbSNP |
17 | g.72124046A>C | CA400867891 | SOX9 | c.1189A>C (p.Ile397Leu)
| dbSNP |
17 | g.72124046A>G | CA400867893 | SOX9 | c.1189A>G (p.Ile397Val)
| |
17 | g.72124046A>T | CA400867892 | SOX9 | c.1189A>T (p.Ile397Phe)
| dbSNP |
17 | g.72124047T>A | CA400867894 | SOX9 | c.1190T>A (p.Ile397Asn)
| dbSNP |
17 | g.72124047T>C | CA400867895 | SOX9 | c.1190T>C (p.Ile397Thr)
| dbSNP |
17 | g.72124047T>G | CA400867896 | SOX9 | c.1190T>G (p.Ile397Ser)
| dbSNP |
17 | g.72124048C>A | CA501432870 | SOX9 | c.1191C>A (p.Ile397=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.72124048C= | CA2273926620 | SOX9 | c.1191C= (p.Ile397=)
| |
17 | g.72124048C>G | CA400867897 | SOX9 | c.1191C>G (p.Ile397Met)
| dbSNP |
17 | g.72124048C>T | CA501432871 | SOX9 | c.1191C>T (p.Ile397=)
| dbSNP gnomAD v4 |