Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.72123904_72123987delCA913189140SOX9c.1047_1130del (p.Pro350_Pro377del)
gnomAD v4
17g.72123906_72123989delCA2639603158SOX9c.1049_1132del (p.Pro350_Pro377del)
gnomAD v4
17g.72123916_72123962delCA2695226902SOX9c.1059_1105del (p.Pro354AlafsTer?)
17g.72123929_72123982delCA2810344963SOX9c.1072_1125del (p.Ala358_Gln375del)
17g.72123932_72123949delCA2639603162SOX9c.1075_1092del (p.Pro359_Ala364del)
gnomAD v4
17g.72123927_72123969delCA2695226903SOX9c.1070_1112del (p.Gln357ArgfsTer12)
17g.72123927_72123948delinsAGGCGCCCCCGCAGCCGCAGGCCA2273926533SOX9c.1070_1091delinsAGGCGCCCCCGCAGCCGCAGGC (p.Gln357=)
17g.72123937_72123957dupCA627589963SOX9c.1080_1100dup (p.Pro367_Gln368insGlnProGlnAlaAlaProPro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72123937_72123957delCA8739085SOX9c.1080_1100del (p.Gln361_Pro367del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123931_72123972delCA2639603163SOX9c.1074_1115del (p.Pro359_Ala372del)
gnomAD v4
17g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCGCA2273926542SOX9c.1077_1095delinsCCCGCAGCCGCAGGCGGCG (p.Pro359=)
17g.72123937_72123954delCA8739088SOX9c.1080_1097del (p.Gln361_Pro366del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123936_72123960delinsCGCAGCCGCAGGCGGCGCCCCCACACA2273926544SOX9c.1079_1103delinsCGCAGCCGCAGGCGGCGCCCCCACA (p.Pro360=)
17g.72123944_72123967dupCA2639603165SOX9c.1087_1110dup (p.Pro370_Ala371insGlnAlaAlaProProGlnGlnPro)
gnomAD v4
17g.72123944_72123967delCA774801397SOX9c.1087_1110del (p.Gln363_Pro370del)
dbSNP gnomAD v3 gnomAD v4
17g.72123942_72123962delCA2639603167SOX9c.1085_1105del (p.Pro362_Gln368del)
gnomAD v4
17g.72123944_72123949delCA986080816SOX9c.1087_1092del (p.Gln363_Ala364del)
dbSNP gnomAD v3 gnomAD v4
17g.72123945_72123965delCA2639603168SOX9c.1088_1108del (p.Gln363_Gln369del)
gnomAD v4
17g.72123950_72123994delCA2639603169SOX9c.1093_1137del (p.Ala365_Ala379del)
gnomAD v4
17g.72123945_72123966delinsAGGCGGCGCCCCCACAGCAGCCCA2273926552SOX9c.1088_1109delinsAGGCGGCGCCCCCACAGCAGCC (p.Gln363=)
17g.72123952_72123972dupCA2639603170SOX9c.1095_1115dup (p.Ala372_Pro373insProProGlnGlnProAlaAla)
gnomAD v4
17g.72123952_72123972delCA8739089SOX9c.1095_1115del (p.Pro366_Ala372del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123948C>ACA293783697SOX9c.1091C>A (p.Ala364Glu)
dbSNP gnomAD v4
17g.72123948C=CA2273926555SOX9c.1091C= (p.Ala364=)
17g.72123948C>GCA400867696SOX9c.1091C>G (p.Ala364Gly)
gnomAD v4
17g.72123948C>TCA8739091SOX9c.1091C>T (p.Ala364Val)
dbSNP ExAC gnomAD v3 gnomAD v4
17g.72123949G>ACA8739092SOX9c.1092G>A (p.Ala364=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123949G>CCA501432735SOX9c.1092G>C (p.Ala364=)
dbSNP
17g.72123949G=CA2273926556SOX9c.1092G= (p.Ala364=)
17g.72123949G>TCA501432736SOX9c.1092G>T (p.Ala364=)
dbSNP gnomAD v4
17g.72123950G>ACA400867697SOX9c.1093G>A (p.Ala365Thr)
dbSNP gnomAD v4
17g.72123950G>CCA400867698SOX9c.1093G>C (p.Ala365Pro)
dbSNP
17g.72123950G=CA2273926557SOX9c.1093G= (p.Ala365=)
17g.72123950G>TCA293783716SOX9c.1093G>T (p.Ala365Ser)
dbSNP
17g.72123951C>ACA400867699SOX9c.1094C>A (p.Ala365Glu)
dbSNP gnomAD v4
17g.72123951C=CA2273926558SOX9c.1094C= (p.Ala365=)
17g.72123951C>GCA400867700SOX9c.1094C>G (p.Ala365Gly)
dbSNP gnomAD v4
17g.72123951C>TCA400867701SOX9c.1094C>T (p.Ala365Val)
dbSNP gnomAD v4
17g.72123952delCA2639603173SOX9c.1095del (p.Pro367HisfsTer16)
gnomAD v4
17g.72123952G>ACA8739094SOX9c.1095G>A (p.Ala365=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123952G>CCA501432737SOX9c.1095G>C (p.Ala365=)
gnomAD v4
17g.72123952G=CA2273926560SOX9c.1095G= (p.Ala365=)
17g.72123952G>TCA501432738SOX9c.1095G>T (p.Ala365=)
gnomAD v4
17g.72123952delinsATCA2695226904SOX9c.1095delinsAT (p.Pro366SerfsTer?)
17g.72123952_72123973delinsGCCCCCACAGCAGCCGGCGGCACA2273926559SOX9c.1095_1116delinsGCCCCCACAGCAGCCGGCGGCA (p.Ala365=)
17g.72123953C>ACA400867703SOX9c.1096C>A (p.Pro366Thr)
dbSNP gnomAD v4
17g.72123953C=CA2273926561SOX9c.1096C= (p.Pro366=)
17g.72123953C>GCA400867702SOX9c.1096C>G (p.Pro366Ala)
dbSNP
17g.72123953C>TCA8739095SOX9c.1096C>T (p.Pro366Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123957dupCA658798969SOX9c.1100dup (p.Gln368ThrfsTer?)
ClinVar dbSNP gnomAD v4
17g.72123957delCA501432739SOX9c.1100del (p.Pro367HisfsTer16)
dbSNP gnomAD v4 COSMIC
17g.72123958_72123978dupCA2639603181SOX9c.1101_1121dup (p.Pro374_Gln375insGlnGlnProAlaAlaProPro)
gnomAD v4
17g.72123958_72123978delCA8739093SOX9c.1101_1121del (p.Gln368_Pro374del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123954C>ACA400867704SOX9c.1097C>A (p.Pro366His)
dbSNP gnomAD v3 gnomAD v4
17g.72123954C=CA2273926562SOX9c.1097C= (p.Pro366=)
17g.72123954C>GCA400867705SOX9c.1097C>G (p.Pro366Arg)
17g.72123954C>TCA400867706SOX9c.1097C>T (p.Pro366Leu)
dbSNP gnomAD v4
17g.72123955C>ACA501432741SOX9c.1098C>A (p.Pro366=)
gnomAD v4
17g.72123955C=CA2273926563SOX9c.1098C= (p.Pro366=)
17g.72123955C>GCA501432742SOX9c.1098C>G (p.Pro366=)
dbSNP
17g.72123955C>TCA501432740SOX9c.1098C>T (p.Pro366=)
dbSNP gnomAD v3 gnomAD v4
17g.72123955_72123957delinsCCCCA2273926564SOX9c.1098_1100delinsCCC (p.Pro366=)
17g.72123956C>ACA400867707SOX9c.1099C>A (p.Pro367Thr)
dbSNP gnomAD v4 COSMIC
17g.72123956C=CA2273926565SOX9c.1099C= (p.Pro367=)
17g.72123956C>GCA8739096SOX9c.1099C>G (p.Pro367Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123956C>TCA400867708SOX9c.1099C>T (p.Pro367Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72123956_72123957delinsGCA658653846SOX9c.1099_1100delinsG (p.Pro367AspfsTer16)
ClinVar dbSNP
17g.72123957C>ACA400867709SOX9c.1100C>A (p.Pro367Gln)
dbSNP gnomAD v4
17g.72123957C=CA2273926566SOX9c.1100C= (p.Pro367=)
17g.72123957C>GCA400867710SOX9c.1100C>G (p.Pro367Arg)
ClinVar gnomAD v4
17g.72123957C>TCA400867711SOX9c.1100C>T (p.Pro367Leu)
dbSNP gnomAD v3 gnomAD v4
17g.72123958A=CA2273926567SOX9c.1101A= (p.Pro367=)
17g.72123958A>CCA501432745SOX9c.1101A>C (p.Pro367=)
gnomAD v4
17g.72123958A>GCA501432743SOX9c.1101A>G (p.Pro367=)
dbSNP gnomAD v4
17g.72123958A>TCA501432744SOX9c.1101A>T (p.Pro367=)
17g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCGCA2273926568SOX9c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG (p.Pro367=)
17g.72123959C>ACA400867714SOX9c.1102C>A (p.Gln368Lys)
gnomAD v4
17g.72123959C=CA2273926569SOX9c.1102C= (p.Gln368=)
17g.72123959C>GCA400867712SOX9c.1102C>G (p.Gln368Glu)
gnomAD v4
17g.72123959C>TCA400867713SOX9c.1102C>T (p.Gln368Ter)
gnomAD v4
17g.72123967_72123987delCA627589967SOX9c.1110_1130del (p.Ala371_Pro377del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72123960A>CCA400867715SOX9c.1103A>C (p.Gln368Pro)
dbSNP
17g.72123960A>GCA400867716SOX9c.1103A>G (p.Gln368Arg)
dbSNP gnomAD v4
17g.72123960A>TCA400867717SOX9c.1103A>T (p.Gln368Leu)
dbSNP
17g.72123960dupCA913185038SOX9c.1103dup (p.Gln369AlafsTer?)
ClinVar dbSNP
17g.72123961G>ACA501432746SOX9c.1104G>A (p.Gln368=)
dbSNP gnomAD v4
17g.72123961G>CCA400867718SOX9c.1104G>C (p.Gln368His)
dbSNP
17g.72123961G>TCA400867719SOX9c.1104G>T (p.Gln368His)
gnomAD v4
17g.72123962C>ACA400867720SOX9c.1105C>A (p.Gln369Lys)
dbSNP gnomAD v4
17g.72123962C>GCA400867721SOX9c.1105C>G (p.Gln369Glu)
dbSNP
17g.72123962C>TCA400867722SOX9c.1105C>T (p.Gln369Ter)
dbSNP gnomAD v4 COSMIC
17g.72123963A=CA2273926570SOX9c.1106A= (p.Gln369=)
17g.72123963A>CCA400867723SOX9c.1106A>C (p.Gln369Pro)
dbSNP
17g.72123963A>GCA400867724SOX9c.1106A>G (p.Gln369Arg)
dbSNP gnomAD v4
17g.72123963A>TCA400867725SOX9c.1106A>T (p.Gln369Leu)
dbSNP
17g.72123964G>ACA501432747SOX9c.1107G>A (p.Gln369=)
dbSNP gnomAD v4
17g.72123964G>CCA400867726SOX9c.1107G>C (p.Gln369His)
dbSNP gnomAD v4
17g.72123964G>TCA400867727SOX9c.1107G>T (p.Gln369His)
gnomAD v4
17g.72123965C>ACA400867729SOX9c.1108C>A (p.Pro370Thr)
dbSNP gnomAD v4
17g.72123965C>GCA400867730SOX9c.1108C>G (p.Pro370Ala)
dbSNP
17g.72123965C>TCA400867728SOX9c.1108C>T (p.Pro370Ser)
dbSNP gnomAD v4
17g.72123966delCA645598935SOX9c.1109del (p.Pro370ArgfsTer13)
COSMIC
17g.72123966C>ACA400867731SOX9c.1109C>A (p.Pro370Gln)
dbSNP gnomAD v4
17g.72123966C=CA2273926571SOX9c.1109C= (p.Pro370=)
17g.72123966C>GCA400867733SOX9c.1109C>G (p.Pro370Arg)
gnomAD v4
17g.72123966C>TCA400867732SOX9c.1109C>T (p.Pro370Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.72123967G>ACA501432750SOX9c.1110G>A (p.Pro370=)
dbSNP gnomAD v2 gnomAD v4
17g.72123967G>CCA501432748SOX9c.1110G>C (p.Pro370=)
dbSNP
17g.72123967G=CA2273926573SOX9c.1110G= (p.Pro370=)
17g.72123967G>TCA501432749SOX9c.1110G>T (p.Pro370=)
17g.72123967_72123968insCAGCA2273926572SOX9c.1110_1111insCAG (p.Pro370_Ala371insGln)
dbSNP
17g.72123968G>ACA400867734SOX9c.1111G>A (p.Ala371Thr)
dbSNP gnomAD v4
17g.72123968G>CCA400867735SOX9c.1111G>C (p.Ala371Pro)
17g.72123968G>TCA400867736SOX9c.1111G>T (p.Ala371Ser)
gnomAD v4
17g.72123969C>ACA8739098SOX9c.1112C>A (p.Ala371Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123969C=CA2273926574SOX9c.1112C= (p.Ala371=)
17g.72123969C>GCA400867737SOX9c.1112C>G (p.Ala371Gly)
dbSNP
17g.72123969C>TCA8739097SOX9c.1112C>T (p.Ala371Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123970G>ACA202244SOX9c.1113G>A (p.Ala371=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123970G>CCA501432751SOX9c.1113G>C (p.Ala371=)
dbSNP
17g.72123970G=CA2273926575SOX9c.1113G= (p.Ala371=)
17g.72123970G>TCA8739099SOX9c.1113G>T (p.Ala371=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123971G>ACA8739100SOX9c.1114G>A (p.Ala372Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123971G>CCA400867738SOX9c.1114G>C (p.Ala372Pro)
dbSNP gnomAD v4
17g.72123971G=CA2273926576SOX9c.1114G= (p.Ala372=)
17g.72123971G>TCA400867739SOX9c.1114G>T (p.Ala372Ser)
gnomAD v4
17g.72123972C>ACA400867742SOX9c.1115C>A (p.Ala372Glu)
gnomAD v4
17g.72123972C=CA2273926577SOX9c.1115C= (p.Ala372=)
17g.72123972C>GCA400867741SOX9c.1115C>G (p.Ala372Gly)
17g.72123972C>TCA400867740SOX9c.1115C>T (p.Ala372Val)
dbSNP gnomAD v4
17g.72123973_72123974delCA2499224894SOX9c.1116_1117del (p.Pro374AlafsTer?)
ClinVar dbSNP
17g.72123973A=CA2273926578SOX9c.1116A= (p.Ala372=)
17g.72123973A>CCA293783758SOX9c.1116A>C (p.Ala372=)
dbSNP
17g.72123973A>GCA501432752SOX9c.1116A>G (p.Ala372=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72123973A>TCA501432753SOX9c.1116A>T (p.Ala372=)
17g.72123974C>ACA400867743SOX9c.1117C>A (p.Pro373Thr)
dbSNP gnomAD v4
17g.72123974C=CA2273926579SOX9c.1117C= (p.Pro373=)
17g.72123974C>GCA400867744SOX9c.1117C>G (p.Pro373Ala)
dbSNP gnomAD v4
17g.72123974C>TCA400867745SOX9c.1117C>T (p.Pro373Ser)
dbSNP gnomAD v3 gnomAD v4
17g.72123978dupCA2639603205SOX9c.1121dup (p.Gln375AlafsTer?)
gnomAD v4
17g.72123978delCA2639603206SOX9c.1121del (p.Pro374ArgfsTer9)
gnomAD v4
17g.72123975C>ACA400867746SOX9c.1118C>A (p.Pro373His)
gnomAD v4
17g.72123975C=CA2273926580SOX9c.1118C= (p.Pro373=)
17g.72123975C>GCA293783760SOX9c.1118C>G (p.Pro373Arg)
dbSNP
17g.72123975C>TCA400867747SOX9c.1118C>T (p.Pro373Leu)
17g.72123976C>ACA501432754SOX9c.1119C>A (p.Pro373=)
dbSNP gnomAD v4
17g.72123976C=CA2273926581SOX9c.1119C= (p.Pro373=)
17g.72123976C>GCA501432755SOX9c.1119C>G (p.Pro373=)
17g.72123976C>TCA8739101SOX9c.1119C>T (p.Pro373=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123977C>ACA8739102SOX9c.1120C>A (p.Pro374Thr)
dbSNP ExAC gnomAD v2
17g.72123977C=CA2273926582SOX9c.1120C= (p.Pro374=)
17g.72123977C>GCA400867748SOX9c.1120C>G (p.Pro374Ala)
dbSNP
17g.72123977C>TCA8739103SOX9c.1120C>T (p.Pro374Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123978C>ACA400867749SOX9c.1121C>A (p.Pro374Gln)
dbSNP gnomAD v4
17g.72123978C=CA2273926583SOX9c.1121C= (p.Pro374=)
17g.72123978C>GCA8739104SOX9c.1121C>G (p.Pro374Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123978C>TCA400867750SOX9c.1121C>T (p.Pro374Leu)
dbSNP gnomAD v2 gnomAD v4
17g.72123979delCA2639603207SOX9c.1122del (p.Gln375SerfsTer8)
gnomAD v4
17g.72123979G>ACA293783800SOX9c.1122G>A (p.Pro374=)
dbSNP gnomAD v4
17g.72123979G>CCA501432756SOX9c.1122G>C (p.Pro374=)
dbSNP
17g.72123979G=CA2273926584SOX9c.1122G= (p.Pro374=)
17g.72123979G>TCA8739105SOX9c.1122G>T (p.Pro374=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123980delCA2639603208SOX9c.1123del (p.Gln375SerfsTer8)
gnomAD v4
17g.72123980C>ACA400867751SOX9c.1123C>A (p.Gln375Lys)
dbSNP gnomAD v4
17g.72123980C>GCA400867752SOX9c.1123C>G (p.Gln375Glu)
gnomAD v4
17g.72123980C>TCA400867753SOX9c.1123C>T (p.Gln375Ter)
dbSNP gnomAD v4
17g.72123981A=CA2273926585SOX9c.1124A= (p.Gln375=)
17g.72123981A>CCA400867754SOX9c.1124A>C (p.Gln375Pro)
dbSNP gnomAD v3 gnomAD v4
17g.72123981A>GCA400867755SOX9c.1124A>G (p.Gln375Arg)
dbSNP gnomAD v4
17g.72123981A>TCA400867756SOX9c.1124A>T (p.Gln375Leu)
dbSNP
17g.72123982G>ACA501432757SOX9c.1125G>A (p.Gln375=)
dbSNP gnomAD v4
17g.72123982G>CCA400867757SOX9c.1125G>C (p.Gln375His)
dbSNP COSMIC
17g.72123982G>TCA400867758SOX9c.1125G>T (p.Gln375His)
gnomAD v4
17g.72123983C>ACA400867759SOX9c.1126C>A (p.Gln376Lys)
dbSNP gnomAD v4
17g.72123983C>GCA400867760SOX9c.1126C>G (p.Gln376Glu)
ClinVar dbSNP
17g.72123983C>TCA400867761SOX9c.1126C>T (p.Gln376Ter)
dbSNP gnomAD v4
17g.72123984A>CCA400867762SOX9c.1127A>C (p.Gln376Pro)
dbSNP
17g.72123984A>GCA400867763SOX9c.1127A>G (p.Gln376Arg)
dbSNP gnomAD v4
17g.72123984A>TCA400867764SOX9c.1127A>T (p.Gln376Leu)
dbSNP
17g.72123985G>ACA501432758SOX9c.1128G>A (p.Gln376=)
gnomAD v4
17g.72123985G>CCA400867766SOX9c.1128G>C (p.Gln376His)
17g.72123985G>TCA400867765SOX9c.1128G>T (p.Gln376His)
gnomAD v4
17g.72123986C>ACA400867767SOX9c.1129C>A (p.Pro377Thr)
dbSNP gnomAD v4
17g.72123986C>GCA400867768SOX9c.1129C>G (p.Pro377Ala)
dbSNP
17g.72123986C>TCA400867769SOX9c.1129C>T (p.Pro377Ser)
dbSNP gnomAD v4
17g.72123987delCA2639603209SOX9c.1130del (p.Pro377HisfsTer6)
gnomAD v4
17g.72123987C>ACA400867770SOX9c.1130C>A (p.Pro377Gln)
gnomAD v4
17g.72123987C>GCA400867771SOX9c.1130C>G (p.Pro377Arg)
17g.72123987C>TCA400867772SOX9c.1130C>T (p.Pro377Leu)
dbSNP
17g.72123988A>CCA501432759SOX9c.1131A>C (p.Pro377=)
dbSNP
17g.72123988A>GCA501432760SOX9c.1131A>G (p.Pro377=)
dbSNP
17g.72123988A>TCA501432761SOX9c.1131A>T (p.Pro377=)
dbSNP
17g.72123989C>ACA400867775SOX9c.1132C>A (p.Gln378Lys)
gnomAD v4
17g.72123989C>GCA400867773SOX9c.1132C>G (p.Gln378Glu)
dbSNP
17g.72123989C>TCA400867774SOX9c.1132C>T (p.Gln378Ter)
ClinVar dbSNP gnomAD v4
17g.72123990A=CA2273926586SOX9c.1133A= (p.Gln378=)
17g.72123990A>CCA400867776SOX9c.1133A>C (p.Gln378Pro)
dbSNP gnomAD v4
17g.72123990A>GCA8739106SOX9c.1133A>G (p.Gln378Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123990A>TCA400867777SOX9c.1133A>T (p.Gln378Leu)
dbSNP gnomAD v4
17g.72123991G>ACA501432762SOX9c.1134G>A (p.Gln378=)
dbSNP gnomAD v4
17g.72123991G>CCA400867778SOX9c.1134G>C (p.Gln378His)
17g.72123991G>TCA400867779SOX9c.1134G>T (p.Gln378His)
17g.72123991_72123992dupCA645598936SOX9c.1134_1135dup (p.Ala379GlyfsTer5)
COSMIC
17g.72123992G>ACA400867782SOX9c.1135G>A (p.Ala379Thr)
17g.72123992G>CCA400867780SOX9c.1135G>C (p.Ala379Pro)
17g.72123992G>TCA400867781SOX9c.1135G>T (p.Ala379Ser)
gnomAD v4
17g.72123993C>ACA8739107SOX9c.1136C>A (p.Ala379Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72123993C=CA2273926587SOX9c.1136C= (p.Ala379=)
17g.72123993C>GCA400867783SOX9c.1136C>G (p.Ala379Gly)
dbSNP
17g.72123993C>TCA400867784SOX9c.1136C>T (p.Ala379Val)
dbSNP gnomAD v4
17g.72123994G>ACA8739108SOX9c.1137G>A (p.Ala379=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72123994G>CCA501432764SOX9c.1137G>C (p.Ala379=)
dbSNP gnomAD v3 gnomAD v4
17g.72123994G=CA2273926588SOX9c.1137G= (p.Ala379=)
17g.72123994G>TCA501432763SOX9c.1137G>T (p.Ala379=)
gnomAD v4
17g.72123995C>ACA400867785SOX9c.1138C>A (p.His380Asn)
dbSNP gnomAD v4
17g.72123995C>GCA400867786SOX9c.1138C>G (p.His380Asp)
dbSNP
17g.72123995C>TCA400867787SOX9c.1138C>T (p.His380Tyr)
17g.72123996A=CA2273926590SOX9c.1139A= (p.His380=)
17g.72123996A>CCA400867790SOX9c.1139A>C (p.His380Pro)
17g.72123996A>GCA400867788SOX9c.1139A>G (p.His380Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72123996A>TCA400867789SOX9c.1139A>T (p.His380Leu)
17g.72123996_72124005delinsACACGCTGACCA2273926589SOX9c.1139_1148delinsACACGCTGAC (p.His380=)
17g.72123997C>ACA400867791SOX9c.1140C>A (p.His380Gln)
gnomAD v4
17g.72123997C=CA2273926592SOX9c.1140C= (p.His380=)
17g.72123997C>GCA400867792SOX9c.1140C>G (p.His380Gln)
dbSNP
17g.72123997C>TCA501432839SOX9c.1140C>T (p.His380=)
dbSNP gnomAD v2 gnomAD v4
17g.72124005_72124013dupCA627589915SOX9c.1148_1156dup (p.Leu385_Ser386insThrThrLeu)
dbSNP gnomAD v2 gnomAD v4
17g.72124005_72124013delCA2273926591SOX9c.1148_1156del (p.Thr383_Leu385del)
ClinVar dbSNP gnomAD v4
17g.72123998A>CCA400867793SOX9c.1141A>C (p.Thr381Pro)
dbSNP
17g.72123998A>GCA400867794SOX9c.1141A>G (p.Thr381Ala)
17g.72123998A>TCA400867795SOX9c.1141A>T (p.Thr381Ser)
dbSNP
17g.72123999C>ACA400867796SOX9c.1142C>A (p.Thr381Lys)
gnomAD v4
17g.72123999C>GCA400867798SOX9c.1142C>G (p.Thr381Arg)
17g.72123999C>TCA400867797SOX9c.1142C>T (p.Thr381Met)
gnomAD v4
17g.72124000G>ACA8739110SOX9c.1143G>A (p.Thr381=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124000G>CCA501432840SOX9c.1143G>C (p.Thr381=)
dbSNP
17g.72124000G=CA2273926593SOX9c.1143G= (p.Thr381=)
17g.72124000G>TCA8739109SOX9c.1143G>T (p.Thr381=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72124001C>ACA400867799SOX9c.1144C>A (p.Leu382Met)
dbSNP gnomAD v4
17g.72124001C=CA2273926594SOX9c.1144C= (p.Leu382=)
17g.72124001C>GCA400867800SOX9c.1144C>G (p.Leu382Val)
dbSNP
17g.72124001C>TCA293783840SOX9c.1144C>T (p.Leu382=)
dbSNP gnomAD v4
17g.72124002T>ACA400867801SOX9c.1145T>A (p.Leu382Gln)
dbSNP
17g.72124002T>CCA400867802SOX9c.1145T>C (p.Leu382Pro)
dbSNP
17g.72124002T>GCA400867803SOX9c.1145T>G (p.Leu382Arg)
17g.72124003G>ACA501432841SOX9c.1146G>A (p.Leu382=)
dbSNP
17g.72124003G>CCA501432842SOX9c.1146G>C (p.Leu382=)
dbSNP
17g.72124003G=CA2273926595SOX9c.1146G= (p.Leu382=)
17g.72124003G>TCA8739111SOX9c.1146G>T (p.Leu382=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.72124004A>CCA400867804SOX9c.1147A>C (p.Thr383Pro)
17g.72124004A>GCA400867805SOX9c.1147A>G (p.Thr383Ala)
17g.72124004A>TCA400867806SOX9c.1147A>T (p.Thr383Ser)
17g.72124005C>ACA400867807SOX9c.1148C>A (p.Thr383Asn)
gnomAD v4
17g.72124005C>GCA400867809SOX9c.1148C>G (p.Thr383Ser)
dbSNP
17g.72124005C>TCA400867808SOX9c.1148C>T (p.Thr383Ile)
dbSNP
17g.72124006C>ACA501432843SOX9c.1149C>A (p.Thr383=)
dbSNP gnomAD v4
17g.72124006C>GCA501432845SOX9c.1149C>G (p.Thr383=)
dbSNP
17g.72124006C>TCA501432844SOX9c.1149C>T (p.Thr383=)
dbSNP gnomAD v4
17g.72124007A>CCA400867810SOX9c.1150A>C (p.Thr384Pro)
dbSNP
17g.72124007A>GCA400867811SOX9c.1150A>G (p.Thr384Ala)
dbSNP
17g.72124007A>TCA400867812SOX9c.1150A>T (p.Thr384Ser)
dbSNP gnomAD v4
17g.72124008C>ACA400867813SOX9c.1151C>A (p.Thr384Lys)
dbSNP gnomAD v4
17g.72124008C=CA2273926596SOX9c.1151C= (p.Thr384=)
17g.72124008C>GCA400867814SOX9c.1151C>G (p.Thr384Arg)
dbSNP gnomAD v2 gnomAD v4
17g.72124008C>TCA400867815SOX9c.1151C>T (p.Thr384Met)
dbSNP gnomAD v4
17g.72124009G>ACA501432846SOX9c.1152G>A (p.Thr384=)
dbSNP gnomAD v4
17g.72124009G>CCA501432847SOX9c.1152G>C (p.Thr384=)
dbSNP
17g.72124009G>TCA501432848SOX9c.1152G>T (p.Thr384=)
dbSNP gnomAD v4
17g.72124010C>ACA400867817SOX9c.1153C>A (p.Leu385Met)
dbSNP gnomAD v4
17g.72124010C>GCA400867816SOX9c.1153C>G (p.Leu385Val)
dbSNP
17g.72124010C>TCA501432849SOX9c.1153C>T (p.Leu385=)
dbSNP
17g.72124011T>ACA400867818SOX9c.1154T>A (p.Leu385Gln)
dbSNP
17g.72124011T>CCA400867819SOX9c.1154T>C (p.Leu385Pro)
dbSNP
17g.72124011T>GCA8739112SOX9c.1154T>G (p.Leu385Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72124011T=CA2273926597SOX9c.1154T= (p.Leu385=)
17g.72124012G>ACA501432850SOX9c.1155G>A (p.Leu385=)
dbSNP gnomAD v2 gnomAD v4
17g.72124012G>CCA501432851SOX9c.1155G>C (p.Leu385=)
dbSNP
17g.72124012G=CA2273926598SOX9c.1155G= (p.Leu385=)
17g.72124012G>TCA501432852SOX9c.1155G>T (p.Leu385=)
17g.72124013A=CA2273926600SOX9c.1156A= (p.Ser386=)
17g.72124013A>CCA400867820SOX9c.1156A>C (p.Ser386Arg)
17g.72124013A>GCA400867821SOX9c.1156A>G (p.Ser386Gly)
dbSNP
17g.72124013A>TCA400867822SOX9c.1156A>T (p.Ser386Cys)
dbSNP
17g.72124016_72124018dupCA2273926599SOX9c.1159_1161dup (p.Ser387_Glu388insSer)
dbSNP
17g.72124014G>ACA400867823SOX9c.1157G>A (p.Ser386Asn)
dbSNP
17g.72124014G>CCA400867825SOX9c.1157G>C (p.Ser386Thr)
dbSNP
17g.72124014G>TCA400867824SOX9c.1157G>T (p.Ser386Ile)
17g.72124015C>ACA400867826SOX9c.1158C>A (p.Ser386Arg)
gnomAD v4
17g.72124015C=CA2273926601SOX9c.1158C= (p.Ser386=)
17g.72124015C>GCA400867827SOX9c.1158C>G (p.Ser386Arg)
dbSNP
17g.72124015C>TCA501432853SOX9c.1158C>T (p.Ser386=)
dbSNP gnomAD v3 gnomAD v4
17g.72124016A>CCA400867828SOX9c.1159A>C (p.Ser387Arg)
17g.72124016A>GCA400867829SOX9c.1159A>G (p.Ser387Gly)
dbSNP
17g.72124016A>TCA400867830SOX9c.1159A>T (p.Ser387Cys)
dbSNP
17g.72124017G>ACA400867831SOX9c.1160G>A (p.Ser387Asn)
dbSNP gnomAD v4
17g.72124017G>CCA400867832SOX9c.1160G>C (p.Ser387Thr)
dbSNP
17g.72124017G>TCA400867833SOX9c.1160G>T (p.Ser387Ile)
17g.72124018C>ACA400867834SOX9c.1161C>A (p.Ser387Arg)
dbSNP gnomAD v4
17g.72124018C=CA2273926602SOX9c.1161C= (p.Ser387=)
17g.72124018C>GCA400867835SOX9c.1161C>G (p.Ser387Arg)
dbSNP
17g.72124018C>TCA501432854SOX9c.1161C>T (p.Ser387=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72124019G>ACA8739113SOX9c.1162G>A (p.Glu388Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124019G>CCA400867837SOX9c.1162G>C (p.Glu388Gln)
dbSNP
17g.72124019G=CA2273926603SOX9c.1162G= (p.Glu388=)
17g.72124019G>TCA400867836SOX9c.1162G>T (p.Glu388Ter)
17g.72124020A>CCA400867838SOX9c.1163A>C (p.Glu388Ala)
dbSNP
17g.72124020A>GCA400867840SOX9c.1163A>G (p.Glu388Gly)
dbSNP
17g.72124020A>TCA400867839SOX9c.1163A>T (p.Glu388Val)
dbSNP
17g.72124021G>ACA501432855SOX9c.1164G>A (p.Glu388=)
dbSNP
17g.72124021G>CCA400867841SOX9c.1164G>C (p.Glu388Asp)
dbSNP gnomAD v4
17g.72124021G=CA2273926604SOX9c.1164G= (p.Glu388=)
17g.72124021G>TCA400867842SOX9c.1164G>T (p.Glu388Asp)
gnomAD v4
17g.72124022C>ACA8739114SOX9c.1165C>A (p.Pro389Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.72124022C=CA2273926605SOX9c.1165C= (p.Pro389=)
17g.72124022C>GCA400867843SOX9c.1165C>G (p.Pro389Ala)
dbSNP
17g.72124022C>TCA400867844SOX9c.1165C>T (p.Pro389Ser)
dbSNP gnomAD v4
17g.72124023C>ACA400867845SOX9c.1166C>A (p.Pro389Gln)
gnomAD v4
17g.72124023C>GCA400867846SOX9c.1166C>G (p.Pro389Arg)
dbSNP gnomAD v4
17g.72124023C>TCA400867847SOX9c.1166C>T (p.Pro389Leu)
gnomAD v4
17g.72124024G>ACA8739115SOX9c.1167G>A (p.Pro389=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124024G>CCA501432856SOX9c.1167G>C (p.Pro389=)
dbSNP
17g.72124024G=CA2273926606SOX9c.1167G= (p.Pro389=)
17g.72124024G>TCA501432857SOX9c.1167G>T (p.Pro389=)
dbSNP
17g.72124025G>ACA8739116SOX9c.1168G>A (p.Gly390Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124025G>CCA400867848SOX9c.1168G>C (p.Gly390Arg)
dbSNP
17g.72124025G=CA2273926607SOX9c.1168G= (p.Gly390=)
17g.72124025G>TCA400867849SOX9c.1168G>T (p.Gly390Cys)
dbSNP
17g.72124026G>ACA400867851SOX9c.1169G>A (p.Gly390Asp)
gnomAD v4
17g.72124026G>CCA8739117SOX9c.1169G>C (p.Gly390Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124026G=CA2273926608SOX9c.1169G= (p.Gly390=)
17g.72124026G>TCA400867850SOX9c.1169G>T (p.Gly390Val)
gnomAD v4
17g.72124027C>ACA8739118SOX9c.1170C>A (p.Gly390=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.72124027C=CA2273926609SOX9c.1170C= (p.Gly390=)
17g.72124027C>GCA501432858SOX9c.1170C>G (p.Gly390=)
dbSNP
17g.72124027C>TCA501432859SOX9c.1170C>T (p.Gly390=)
dbSNP gnomAD v2 gnomAD v4
17g.72124028delCA2734006131SOX9c.1171del (p.Gln391SerfsTer12)
dbSNP
17g.72124028C>ACA400867852SOX9c.1171C>A (p.Gln391Lys)
dbSNP gnomAD v4
17g.72124028C>GCA400867853SOX9c.1171C>G (p.Gln391Glu)
dbSNP
17g.72124028C>TCA400867854SOX9c.1171C>T (p.Gln391Ter)
dbSNP
17g.72124029A=CA2273926610SOX9c.1172A= (p.Gln391=)
17g.72124029A>CCA400867855SOX9c.1172A>C (p.Gln391Pro)
dbSNP gnomAD v4
17g.72124029A>GCA400867856SOX9c.1172A>G (p.Gln391Arg)
dbSNP gnomAD v2 gnomAD v4
17g.72124029A>TCA400867857SOX9c.1172A>T (p.Gln391Leu)
dbSNP
17g.72124030G>ACA501432860SOX9c.1173G>A (p.Gln391=)
dbSNP gnomAD v4
17g.72124030G>CCA400867858SOX9c.1173G>C (p.Gln391His)
dbSNP
17g.72124030G>TCA400867859SOX9c.1173G>T (p.Gln391His)
17g.72124031T>ACA400867860SOX9c.1174T>A (p.Ser392Thr)
17g.72124031T>CCA400867861SOX9c.1174T>C (p.Ser392Pro)
gnomAD v4
17g.72124031T>GCA400867862SOX9c.1174T>G (p.Ser392Ala)
17g.72124032C>ACA400867864SOX9c.1175C>A (p.Ser392Tyr)
dbSNP
17g.72124032C=CA2273926611SOX9c.1175C= (p.Ser392=)
17g.72124032C>GCA400867865SOX9c.1175C>G (p.Ser392Cys)
dbSNP
17g.72124032C>TCA400867863SOX9c.1175C>T (p.Ser392Phe)
dbSNP gnomAD v3 gnomAD v4
17g.72124033C>ACA501432861SOX9c.1176C>A (p.Ser392=)
dbSNP
17g.72124033C=CA2273926612SOX9c.1176C= (p.Ser392=)
17g.72124033C>GCA501432862SOX9c.1176C>G (p.Ser392=)
dbSNP
17g.72124033C>TCA8739119SOX9c.1176C>T (p.Ser392=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.72124034C>ACA400867866SOX9c.1177C>A (p.Gln393Lys)
dbSNP
17g.72124034C=CA2273926613SOX9c.1177C= (p.Gln393=)
17g.72124034C>GCA400867867SOX9c.1177C>G (p.Gln393Glu)
17g.72124034C>TCA400867868SOX9c.1177C>T (p.Gln393Ter)
ClinVar dbSNP COSMIC
17g.72124035A=CA2273926614SOX9c.1178A= (p.Gln393=)
17g.72124035A>CCA400867869SOX9c.1178A>C (p.Gln393Pro)
dbSNP
17g.72124035A>GCA293783901SOX9c.1178A>G (p.Gln393Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72124035A>TCA400867870SOX9c.1178A>T (p.Gln393Leu)
dbSNP
17g.72124035_72124041delinsAGCGAACCA2273926615SOX9c.1178_1184delinsAGCGAAC (p.Gln393=)
17g.72124036G>ACA501432863SOX9c.1179G>A (p.Gln393=)
dbSNP
17g.72124036G>CCA400867871SOX9c.1179G>C (p.Gln393His)
dbSNP
17g.72124036G>TCA400867872SOX9c.1179G>T (p.Gln393His)
dbSNP
17g.72124038_72124043delCA627589917SOX9c.1181_1186del (p.Arg394_Thr395del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.72124037C>ACA501432864SOX9c.1180C>A (p.Arg394=)
dbSNP gnomAD v2
17g.72124037C=CA2273926616SOX9c.1180C= (p.Arg394=)
17g.72124037C>GCA400867873SOX9c.1180C>G (p.Arg394Gly)
dbSNP
17g.72124037C>TCA16043058SOX9c.1180C>T (p.Arg394Ter)
ClinVar dbSNP gnomAD v4
17g.72124037dupCA645598832SOX9c.1180dup (p.Arg394ProfsTer?)
COSMIC
17g.72124038G>ACA400867875SOX9c.1181G>A (p.Arg394Gln)
dbSNP gnomAD v4 COSMIC
17g.72124038G>CCA400867876SOX9c.1181G>C (p.Arg394Pro)
dbSNP COSMIC
17g.72124038G>TCA400867874SOX9c.1181G>T (p.Arg394Leu)
dbSNP COSMIC
17g.72124039A>CCA501432865SOX9c.1182A>C (p.Arg394=)
dbSNP
17g.72124039A>GCA501432866SOX9c.1182A>G (p.Arg394=)
dbSNP
17g.72124039A>TCA501432867SOX9c.1182A>T (p.Arg394=)
dbSNP
17g.72124040A>CCA400867877SOX9c.1183A>C (p.Thr395Pro)
dbSNP
17g.72124040A>GCA400867878SOX9c.1183A>G (p.Thr395Ala)
COSMIC
17g.72124040A>TCA400867879SOX9c.1183A>T (p.Thr395Ser)
dbSNP
17g.72124041C>ACA400867880SOX9c.1184C>A (p.Thr395Lys)
dbSNP
17g.72124041C=CA2273926617SOX9c.1184C= (p.Thr395=)
17g.72124041C>GCA400867881SOX9c.1184C>G (p.Thr395Arg)
dbSNP gnomAD v4
17g.72124041C>TCA400867882SOX9c.1184C>T (p.Thr395Met)
dbSNP gnomAD v2 gnomAD v4
17g.72124042_72124043dupCA645598833SOX9c.1185_1186dup (p.His396ArgfsTer8)
COSMIC
17g.72124042G>ACA8739120SOX9c.1185G>A (p.Thr395=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124042G>CCA501432868SOX9c.1185G>C (p.Thr395=)
dbSNP
17g.72124042G=CA2273926618SOX9c.1185G= (p.Thr395=)
17g.72124042G>TCA8739121SOX9c.1185G>T (p.Thr395=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.72124043C>ACA400867883SOX9c.1186C>A (p.His396Asn)
17g.72124043C>GCA400867884SOX9c.1186C>G (p.His396Asp)
17g.72124043C>TCA400867885SOX9c.1186C>T (p.His396Tyr)
dbSNP
17g.72124044A>CCA400867886SOX9c.1187A>C (p.His396Pro)
dbSNP
17g.72124044A>GCA400867887SOX9c.1187A>G (p.His396Arg)
dbSNP
17g.72124044A>TCA400867888SOX9c.1187A>T (p.His396Leu)
dbSNP
17g.72124045C>ACA400867889SOX9c.1188C>A (p.His396Gln)
dbSNP gnomAD v3 gnomAD v4
17g.72124045C=CA2273926619SOX9c.1188C= (p.His396=)
17g.72124045C>GCA400867890SOX9c.1188C>G (p.His396Gln)
dbSNP
17g.72124045C>TCA501432869SOX9c.1188C>T (p.His396=)
dbSNP
17g.72124046A>CCA400867891SOX9c.1189A>C (p.Ile397Leu)
dbSNP
17g.72124046A>GCA400867893SOX9c.1189A>G (p.Ile397Val)
17g.72124046A>TCA400867892SOX9c.1189A>T (p.Ile397Phe)
dbSNP
17g.72124047T>ACA400867894SOX9c.1190T>A (p.Ile397Asn)
dbSNP
17g.72124047T>CCA400867895SOX9c.1190T>C (p.Ile397Thr)
dbSNP
17g.72124047T>GCA400867896SOX9c.1190T>G (p.Ile397Ser)
dbSNP
17g.72124048C>ACA501432870SOX9c.1191C>A (p.Ile397=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.72124048C=CA2273926620SOX9c.1191C= (p.Ile397=)
17g.72124048C>GCA400867897SOX9c.1191C>G (p.Ile397Met)
dbSNP
17g.72124048C>TCA501432871SOX9c.1191C>T (p.Ile397=)
dbSNP gnomAD v4

Number of alleles fetched