Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69964880T>ACA353559374MITFc.1147T>A (p.Ser383Thr)
c.1144T>A (p.Ser382Thr)
n.1369T>A
c.1120T>A (p.Ser374Thr)
c.1114-34T>A (n.1114-34T>A)
c.1213T>A (p.Ser405Thr)
c.892T>A (p.Ser298Thr)
c.1192T>A (p.Ser398Thr)
c.1195T>A (p.Ser399Thr)
c.874T>A (p.Ser292Thr)
c.1039T>A (p.Ser347Thr)
c.*539T>A (n.*539T>A)
c.706T>A (p.Ser236Thr)
c.1165T>A (p.Ser389Thr)
c.1057T>A (p.Ser353Thr)
c.1210T>A (p.Ser404Thr)
c.1162T>A (p.Ser388Thr)
c.1045T>A (p.Ser349Thr)
c.1027T>A (p.Ser343Thr)
3g.69964880T>CCA123838MITFc.1147T>C (p.Ser383Pro)
c.1144T>C (p.Ser382Pro)
n.1369T>C
c.1120T>C (p.Ser374Pro)
c.1114-34T>C (n.1114-34T>C)
c.1213T>C (p.Ser405Pro)
c.892T>C (p.Ser298Pro)
c.1192T>C (p.Ser398Pro)
c.1195T>C (p.Ser399Pro)
c.874T>C (p.Ser292Pro)
c.1039T>C (p.Ser347Pro)
c.*539T>C (n.*539T>C)
c.706T>C (p.Ser236Pro)
c.1165T>C (p.Ser389Pro)
c.1057T>C (p.Ser353Pro)
c.1210T>C (p.Ser404Pro)
c.1162T>C (p.Ser388Pro)
c.1045T>C (p.Ser349Pro)
c.1027T>C (p.Ser343Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964880T>GCA353559373MITFc.1147T>G (p.Ser383Ala)
c.1144T>G (p.Ser382Ala)
n.1369T>G
c.1120T>G (p.Ser374Ala)
c.1114-34T>G (n.1114-34T>G)
c.1213T>G (p.Ser405Ala)
c.892T>G (p.Ser298Ala)
c.1192T>G (p.Ser398Ala)
c.1195T>G (p.Ser399Ala)
c.874T>G (p.Ser292Ala)
c.1039T>G (p.Ser347Ala)
c.*539T>G (n.*539T>G)
c.706T>G (p.Ser236Ala)
c.1165T>G (p.Ser389Ala)
c.1057T>G (p.Ser353Ala)
c.1210T>G (p.Ser404Ala)
c.1162T>G (p.Ser388Ala)
c.1045T>G (p.Ser349Ala)
c.1027T>G (p.Ser343Ala)
3g.69964880T=CA1373413906MITFc.1147T= (p.Ser383=)
c.1144T= (p.Ser382=)
n.1369T=
c.1120T= (p.Ser374=)
c.1114-34T= (n.1114-34T=)
c.1213T= (p.Ser405=)
c.892T= (p.Ser298=)
c.1192T= (p.Ser398=)
c.1195T= (p.Ser399=)
c.874T= (p.Ser292=)
c.1039T= (p.Ser347=)
c.*539T= (n.*539T=)
c.706T= (p.Ser236=)
c.1165T= (p.Ser389=)
c.1057T= (p.Ser353=)
c.1210T= (p.Ser404=)
c.1162T= (p.Ser388=)
c.1045T= (p.Ser349=)
c.1027T= (p.Ser343=)
3g.69964881C>ACA353559375MITFc.1148C>A (p.Ser383Tyr)
c.1145C>A (p.Ser382Tyr)
n.1370C>A
c.1121C>A (p.Ser374Tyr)
c.1114-33C>A (n.1114-33C>A)
c.1214C>A (p.Ser405Tyr)
c.893C>A (p.Ser298Tyr)
c.1193C>A (p.Ser398Tyr)
c.1196C>A (p.Ser399Tyr)
c.875C>A (p.Ser292Tyr)
c.1040C>A (p.Ser347Tyr)
c.*540C>A (n.*540C>A)
c.707C>A (p.Ser236Tyr)
c.1166C>A (p.Ser389Tyr)
c.1058C>A (p.Ser353Tyr)
c.1211C>A (p.Ser404Tyr)
c.1163C>A (p.Ser388Tyr)
c.1046C>A (p.Ser349Tyr)
c.1028C>A (p.Ser343Tyr)
3g.69964881C>GCA353559376MITFc.1148C>G (p.Ser383Cys)
c.1145C>G (p.Ser382Cys)
n.1370C>G
c.1121C>G (p.Ser374Cys)
c.1114-33C>G (n.1114-33C>G)
c.1214C>G (p.Ser405Cys)
c.893C>G (p.Ser298Cys)
c.1193C>G (p.Ser398Cys)
c.1196C>G (p.Ser399Cys)
c.875C>G (p.Ser292Cys)
c.1040C>G (p.Ser347Cys)
c.*540C>G (n.*540C>G)
c.707C>G (p.Ser236Cys)
c.1166C>G (p.Ser389Cys)
c.1058C>G (p.Ser353Cys)
c.1211C>G (p.Ser404Cys)
c.1163C>G (p.Ser388Cys)
c.1046C>G (p.Ser349Cys)
c.1028C>G (p.Ser343Cys)
3g.69964881C>TCA353559377MITFc.1148C>T (p.Ser383Phe)
c.1145C>T (p.Ser382Phe)
n.1370C>T
c.1121C>T (p.Ser374Phe)
c.1114-33C>T (n.1114-33C>T)
c.1214C>T (p.Ser405Phe)
c.893C>T (p.Ser298Phe)
c.1193C>T (p.Ser398Phe)
c.1196C>T (p.Ser399Phe)
c.875C>T (p.Ser292Phe)
c.1040C>T (p.Ser347Phe)
c.*540C>T (n.*540C>T)
c.707C>T (p.Ser236Phe)
c.1166C>T (p.Ser389Phe)
c.1058C>T (p.Ser353Phe)
c.1211C>T (p.Ser404Phe)
c.1163C>T (p.Ser388Phe)
c.1046C>T (p.Ser349Phe)
c.1028C>T (p.Ser343Phe)
 dbSNP
3g.69964882C>ACA434433377MITFc.1149C>A (p.Ser383=)
c.1146C>A (p.Ser382=)
n.1371C>A
c.1122C>A (p.Ser374=)
c.1114-32C>A (n.1114-32C>A)
c.1215C>A (p.Ser405=)
c.894C>A (p.Ser298=)
c.1194C>A (p.Ser398=)
c.1197C>A (p.Ser399=)
c.876C>A (p.Ser292=)
c.1041C>A (p.Ser347=)
c.*541C>A (n.*541C>A)
c.708C>A (p.Ser236=)
c.1167C>A (p.Ser389=)
c.1059C>A (p.Ser353=)
c.1212C>A (p.Ser404=)
c.1164C>A (p.Ser388=)
c.1047C>A (p.Ser349=)
c.1029C>A (p.Ser343=)
3g.69964882C>GCA434433374MITFc.1149C>G (p.Ser383=)
c.1146C>G (p.Ser382=)
n.1371C>G
c.1122C>G (p.Ser374=)
c.1114-32C>G (n.1114-32C>G)
c.1215C>G (p.Ser405=)
c.894C>G (p.Ser298=)
c.1194C>G (p.Ser398=)
c.1197C>G (p.Ser399=)
c.876C>G (p.Ser292=)
c.1041C>G (p.Ser347=)
c.*541C>G (n.*541C>G)
c.708C>G (p.Ser236=)
c.1167C>G (p.Ser389=)
c.1059C>G (p.Ser353=)
c.1212C>G (p.Ser404=)
c.1164C>G (p.Ser388=)
c.1047C>G (p.Ser349=)
c.1029C>G (p.Ser343=)
3g.69964882C>TCA434433375MITFc.1149C>T (p.Ser383=)
c.1146C>T (p.Ser382=)
n.1371C>T
c.1122C>T (p.Ser374=)
c.1114-32C>T (n.1114-32C>T)
c.1215C>T (p.Ser405=)
c.894C>T (p.Ser298=)
c.1194C>T (p.Ser398=)
c.1197C>T (p.Ser399=)
c.876C>T (p.Ser292=)
c.1041C>T (p.Ser347=)
c.*541C>T (n.*541C>T)
c.708C>T (p.Ser236=)
c.1167C>T (p.Ser389=)
c.1059C>T (p.Ser353=)
c.1212C>T (p.Ser404=)
c.1164C>T (p.Ser388=)
c.1047C>T (p.Ser349=)
c.1029C>T (p.Ser343=)
 dbSNP COSMIC COSMIC COSMIC COSMIC
3g.69964883C>ACA353559378MITFc.1150C>A (p.Leu384Ile)
c.1147C>A (p.Leu383Ile)
n.1372C>A
c.1123C>A (p.Leu375Ile)
c.1114-31C>A (n.1114-31C>A)
c.1216C>A (p.Leu406Ile)
c.895C>A (p.Leu299Ile)
c.1195C>A (p.Leu399Ile)
c.1198C>A (p.Leu400Ile)
c.877C>A (p.Leu293Ile)
c.1042C>A (p.Leu348Ile)
c.*542C>A (n.*542C>A)
c.709C>A (p.Leu237Ile)
c.1168C>A (p.Leu390Ile)
c.1060C>A (p.Leu354Ile)
c.1213C>A (p.Leu405Ile)
c.1165C>A (p.Leu389Ile)
c.1048C>A (p.Leu350Ile)
c.1030C>A (p.Leu344Ile)
3g.69964883C=CA1373413911MITFc.1150C= (p.Leu384=)
c.1147C= (p.Leu383=)
n.1372C=
c.1123C= (p.Leu375=)
c.1114-31C= (n.1114-31C=)
c.1216C= (p.Leu406=)
c.895C= (p.Leu299=)
c.1195C= (p.Leu399=)
c.1198C= (p.Leu400=)
c.877C= (p.Leu293=)
c.1042C= (p.Leu348=)
c.*542C= (n.*542C=)
c.709C= (p.Leu237=)
c.1168C= (p.Leu390=)
c.1060C= (p.Leu354=)
c.1213C= (p.Leu405=)
c.1165C= (p.Leu389=)
c.1048C= (p.Leu350=)
c.1030C= (p.Leu344=)
3g.69964883C>GCA353559379MITFc.1150C>G (p.Leu384Val)
c.1147C>G (p.Leu383Val)
n.1372C>G
c.1123C>G (p.Leu375Val)
c.1114-31C>G (n.1114-31C>G)
c.1216C>G (p.Leu406Val)
c.895C>G (p.Leu299Val)
c.1195C>G (p.Leu399Val)
c.1198C>G (p.Leu400Val)
c.877C>G (p.Leu293Val)
c.1042C>G (p.Leu348Val)
c.*542C>G (n.*542C>G)
c.709C>G (p.Leu237Val)
c.1168C>G (p.Leu390Val)
c.1060C>G (p.Leu354Val)
c.1213C>G (p.Leu405Val)
c.1165C>G (p.Leu389Val)
c.1048C>G (p.Leu350Val)
c.1030C>G (p.Leu344Val)
3g.69964883C>TCA2490625MITFc.1150C>T (p.Leu384Phe)
c.1147C>T (p.Leu383Phe)
n.1372C>T
c.1123C>T (p.Leu375Phe)
c.1114-31C>T (n.1114-31C>T)
c.1216C>T (p.Leu406Phe)
c.895C>T (p.Leu299Phe)
c.1195C>T (p.Leu399Phe)
c.1198C>T (p.Leu400Phe)
c.877C>T (p.Leu293Phe)
c.1042C>T (p.Leu348Phe)
c.*542C>T (n.*542C>T)
c.709C>T (p.Leu237Phe)
c.1168C>T (p.Leu390Phe)
c.1060C>T (p.Leu354Phe)
c.1213C>T (p.Leu405Phe)
c.1165C>T (p.Leu389Phe)
c.1048C>T (p.Leu350Phe)
c.1030C>T (p.Leu344Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964884T>ACA353559380MITFc.1151T>A (p.Leu384His)
c.1148T>A (p.Leu383His)
n.1373T>A
c.1124T>A (p.Leu375His)
c.1114-30T>A (n.1114-30T>A)
c.1217T>A (p.Leu406His)
c.896T>A (p.Leu299His)
c.1196T>A (p.Leu399His)
c.1199T>A (p.Leu400His)
c.878T>A (p.Leu293His)
c.1043T>A (p.Leu348His)
c.*543T>A (n.*543T>A)
c.710T>A (p.Leu237His)
c.1169T>A (p.Leu390His)
c.1061T>A (p.Leu354His)
c.1214T>A (p.Leu405His)
c.1166T>A (p.Leu389His)
c.1049T>A (p.Leu350His)
c.1031T>A (p.Leu344His)
3g.69964884T>CCA353559382MITFc.1151T>C (p.Leu384Pro)
c.1148T>C (p.Leu383Pro)
n.1373T>C
c.1124T>C (p.Leu375Pro)
c.1114-30T>C (n.1114-30T>C)
c.1217T>C (p.Leu406Pro)
c.896T>C (p.Leu299Pro)
c.1196T>C (p.Leu399Pro)
c.1199T>C (p.Leu400Pro)
c.878T>C (p.Leu293Pro)
c.1043T>C (p.Leu348Pro)
c.*543T>C (n.*543T>C)
c.710T>C (p.Leu237Pro)
c.1169T>C (p.Leu390Pro)
c.1061T>C (p.Leu354Pro)
c.1214T>C (p.Leu405Pro)
c.1166T>C (p.Leu389Pro)
c.1049T>C (p.Leu350Pro)
c.1031T>C (p.Leu344Pro)
3g.69964884T>GCA353559381MITFc.1151T>G (p.Leu384Arg)
c.1148T>G (p.Leu383Arg)
n.1373T>G
c.1124T>G (p.Leu375Arg)
c.1114-30T>G (n.1114-30T>G)
c.1217T>G (p.Leu406Arg)
c.896T>G (p.Leu299Arg)
c.1196T>G (p.Leu399Arg)
c.1199T>G (p.Leu400Arg)
c.878T>G (p.Leu293Arg)
c.1043T>G (p.Leu348Arg)
c.*543T>G (n.*543T>G)
c.710T>G (p.Leu237Arg)
c.1169T>G (p.Leu390Arg)
c.1061T>G (p.Leu354Arg)
c.1214T>G (p.Leu405Arg)
c.1166T>G (p.Leu389Arg)
c.1049T>G (p.Leu350Arg)
c.1031T>G (p.Leu344Arg)
3g.69964885T>ACA434433380MITFc.1152T>A (p.Leu384=)
c.1149T>A (p.Leu383=)
n.1374T>A
c.1125T>A (p.Leu375=)
c.1114-29T>A (n.1114-29T>A)
c.1218T>A (p.Leu406=)
c.897T>A (p.Leu299=)
c.1197T>A (p.Leu399=)
c.1200T>A (p.Leu400=)
c.879T>A (p.Leu293=)
c.1044T>A (p.Leu348=)
c.*544T>A (n.*544T>A)
c.711T>A (p.Leu237=)
c.1170T>A (p.Leu390=)
c.1062T>A (p.Leu354=)
c.1215T>A (p.Leu405=)
c.1167T>A (p.Leu389=)
c.1050T>A (p.Leu350=)
c.1032T>A (p.Leu344=)
3g.69964885T>CCA434433381MITFc.1152T>C (p.Leu384=)
c.1149T>C (p.Leu383=)
n.1374T>C
c.1125T>C (p.Leu375=)
c.1114-29T>C (n.1114-29T>C)
c.1218T>C (p.Leu406=)
c.897T>C (p.Leu299=)
c.1197T>C (p.Leu399=)
c.1200T>C (p.Leu400=)
c.879T>C (p.Leu293=)
c.1044T>C (p.Leu348=)
c.*544T>C (n.*544T>C)
c.711T>C (p.Leu237=)
c.1170T>C (p.Leu390=)
c.1062T>C (p.Leu354=)
c.1215T>C (p.Leu405=)
c.1167T>C (p.Leu389=)
c.1050T>C (p.Leu350=)
c.1032T>C (p.Leu344=)
 gnomAD v4
3g.69964885T>GCA434433383MITFc.1152T>G (p.Leu384=)
c.1149T>G (p.Leu383=)
n.1374T>G
c.1125T>G (p.Leu375=)
c.1114-29T>G (n.1114-29T>G)
c.1218T>G (p.Leu406=)
c.897T>G (p.Leu299=)
c.1197T>G (p.Leu399=)
c.1200T>G (p.Leu400=)
c.879T>G (p.Leu293=)
c.1044T>G (p.Leu348=)
c.*544T>G (n.*544T>G)
c.711T>G (p.Leu237=)
c.1170T>G (p.Leu390=)
c.1062T>G (p.Leu354=)
c.1215T>G (p.Leu405=)
c.1167T>G (p.Leu389=)
c.1050T>G (p.Leu350=)
c.1032T>G (p.Leu344=)
3g.69964886A>CCA353559383MITFc.1153A>C (p.Ile385Leu)
c.1150A>C (p.Ile384Leu)
n.1375A>C
c.1126A>C (p.Ile376Leu)
c.1114-28A>C (n.1114-28A>C)
c.1219A>C (p.Ile407Leu)
c.898A>C (p.Ile300Leu)
c.1198A>C (p.Ile400Leu)
c.1201A>C (p.Ile401Leu)
c.880A>C (p.Ile294Leu)
c.1045A>C (p.Ile349Leu)
c.*545A>C (n.*545A>C)
c.712A>C (p.Ile238Leu)
c.1171A>C (p.Ile391Leu)
c.1063A>C (p.Ile355Leu)
c.1216A>C (p.Ile406Leu)
c.1168A>C (p.Ile390Leu)
c.1051A>C (p.Ile351Leu)
c.1033A>C (p.Ile345Leu)
3g.69964886A>GCA353559384MITFc.1153A>G (p.Ile385Val)
c.1150A>G (p.Ile384Val)
n.1375A>G
c.1126A>G (p.Ile376Val)
c.1114-28A>G (n.1114-28A>G)
c.1219A>G (p.Ile407Val)
c.898A>G (p.Ile300Val)
c.1198A>G (p.Ile400Val)
c.1201A>G (p.Ile401Val)
c.880A>G (p.Ile294Val)
c.1045A>G (p.Ile349Val)
c.*545A>G (n.*545A>G)
c.712A>G (p.Ile238Val)
c.1171A>G (p.Ile391Val)
c.1063A>G (p.Ile355Val)
c.1216A>G (p.Ile406Val)
c.1168A>G (p.Ile390Val)
c.1051A>G (p.Ile351Val)
c.1033A>G (p.Ile345Val)
3g.69964886A>TCA353559385MITFc.1153A>T (p.Ile385Phe)
c.1150A>T (p.Ile384Phe)
n.1375A>T
c.1126A>T (p.Ile376Phe)
c.1114-28A>T (n.1114-28A>T)
c.1219A>T (p.Ile407Phe)
c.898A>T (p.Ile300Phe)
c.1198A>T (p.Ile400Phe)
c.1201A>T (p.Ile401Phe)
c.880A>T (p.Ile294Phe)
c.1045A>T (p.Ile349Phe)
c.*545A>T (n.*545A>T)
c.712A>T (p.Ile238Phe)
c.1171A>T (p.Ile391Phe)
c.1063A>T (p.Ile355Phe)
c.1216A>T (p.Ile406Phe)
c.1168A>T (p.Ile390Phe)
c.1051A>T (p.Ile351Phe)
c.1033A>T (p.Ile345Phe)
3g.69964887T>ACA353559386MITFc.1154T>A (p.Ile385Asn)
c.1151T>A (p.Ile384Asn)
n.1376T>A
c.1127T>A (p.Ile376Asn)
c.1114-27T>A (n.1114-27T>A)
c.1220T>A (p.Ile407Asn)
c.899T>A (p.Ile300Asn)
c.1199T>A (p.Ile400Asn)
c.1202T>A (p.Ile401Asn)
c.881T>A (p.Ile294Asn)
c.1046T>A (p.Ile349Asn)
c.*546T>A (n.*546T>A)
c.713T>A (p.Ile238Asn)
c.1172T>A (p.Ile391Asn)
c.1064T>A (p.Ile355Asn)
c.1217T>A (p.Ile406Asn)
c.1169T>A (p.Ile390Asn)
c.1052T>A (p.Ile351Asn)
c.1034T>A (p.Ile345Asn)
3g.69964887T>CCA353559387MITFc.1154T>C (p.Ile385Thr)
c.1151T>C (p.Ile384Thr)
n.1376T>C
c.1127T>C (p.Ile376Thr)
c.1114-27T>C (n.1114-27T>C)
c.1220T>C (p.Ile407Thr)
c.899T>C (p.Ile300Thr)
c.1199T>C (p.Ile400Thr)
c.1202T>C (p.Ile401Thr)
c.881T>C (p.Ile294Thr)
c.1046T>C (p.Ile349Thr)
c.*546T>C (n.*546T>C)
c.713T>C (p.Ile238Thr)
c.1172T>C (p.Ile391Thr)
c.1064T>C (p.Ile355Thr)
c.1217T>C (p.Ile406Thr)
c.1169T>C (p.Ile390Thr)
c.1052T>C (p.Ile351Thr)
c.1034T>C (p.Ile345Thr)
3g.69964887T>GCA353559388MITFc.1154T>G (p.Ile385Ser)
c.1151T>G (p.Ile384Ser)
n.1376T>G
c.1127T>G (p.Ile376Ser)
c.1114-27T>G (n.1114-27T>G)
c.1220T>G (p.Ile407Ser)
c.899T>G (p.Ile300Ser)
c.1199T>G (p.Ile400Ser)
c.1202T>G (p.Ile401Ser)
c.881T>G (p.Ile294Ser)
c.1046T>G (p.Ile349Ser)
c.*546T>G (n.*546T>G)
c.713T>G (p.Ile238Ser)
c.1172T>G (p.Ile391Ser)
c.1064T>G (p.Ile355Ser)
c.1217T>G (p.Ile406Ser)
c.1169T>G (p.Ile390Ser)
c.1052T>G (p.Ile351Ser)
c.1034T>G (p.Ile345Ser)
3g.69964888T>ACA434433385MITFc.1155T>A (p.Ile385=)
c.1152T>A (p.Ile384=)
n.1377T>A
c.1128T>A (p.Ile376=)
c.1114-26T>A (n.1114-26T>A)
c.1221T>A (p.Ile407=)
c.900T>A (p.Ile300=)
c.1200T>A (p.Ile400=)
c.1203T>A (p.Ile401=)
c.882T>A (p.Ile294=)
c.1047T>A (p.Ile349=)
c.*547T>A (n.*547T>A)
c.714T>A (p.Ile238=)
c.1173T>A (p.Ile391=)
c.1065T>A (p.Ile355=)
c.1218T>A (p.Ile406=)
c.1170T>A (p.Ile390=)
c.1053T>A (p.Ile351=)
c.1035T>A (p.Ile345=)
3g.69964888T>CCA434433386MITFc.1155T>C (p.Ile385=)
c.1152T>C (p.Ile384=)
n.1377T>C
c.1128T>C (p.Ile376=)
c.1114-26T>C (n.1114-26T>C)
c.1221T>C (p.Ile407=)
c.900T>C (p.Ile300=)
c.1200T>C (p.Ile400=)
c.1203T>C (p.Ile401=)
c.882T>C (p.Ile294=)
c.1047T>C (p.Ile349=)
c.*547T>C (n.*547T>C)
c.714T>C (p.Ile238=)
c.1173T>C (p.Ile391=)
c.1065T>C (p.Ile355=)
c.1218T>C (p.Ile406=)
c.1170T>C (p.Ile390=)
c.1053T>C (p.Ile351=)
c.1035T>C (p.Ile345=)
3g.69964888T>GCA353559389MITFc.1155T>G (p.Ile385Met)
c.1152T>G (p.Ile384Met)
n.1377T>G
c.1128T>G (p.Ile376Met)
c.1114-26T>G (n.1114-26T>G)
c.1221T>G (p.Ile407Met)
c.900T>G (p.Ile300Met)
c.1200T>G (p.Ile400Met)
c.1203T>G (p.Ile401Met)
c.882T>G (p.Ile294Met)
c.1047T>G (p.Ile349Met)
c.*547T>G (n.*547T>G)
c.714T>G (p.Ile238Met)
c.1173T>G (p.Ile391Met)
c.1065T>G (p.Ile355Met)
c.1218T>G (p.Ile406Met)
c.1170T>G (p.Ile390Met)
c.1053T>G (p.Ile351Met)
c.1035T>G (p.Ile345Met)
3g.69964889C>ACA353559390MITFc.1156C>A (p.Pro386Thr)
c.1153C>A (p.Pro385Thr)
n.1378C>A
c.1129C>A (p.Pro377Thr)
c.1114-25C>A (n.1114-25C>A)
c.1222C>A (p.Pro408Thr)
c.901C>A (p.Pro301Thr)
c.1201C>A (p.Pro401Thr)
c.1204C>A (p.Pro402Thr)
c.883C>A (p.Pro295Thr)
c.1048C>A (p.Pro350Thr)
c.*548C>A (n.*548C>A)
c.715C>A (p.Pro239Thr)
c.1174C>A (p.Pro392Thr)
c.1066C>A (p.Pro356Thr)
c.1219C>A (p.Pro407Thr)
c.1171C>A (p.Pro391Thr)
c.1054C>A (p.Pro352Thr)
c.1036C>A (p.Pro346Thr)
3g.69964889C=CA1373413914MITFc.1156C= (p.Pro386=)
c.1153C= (p.Pro385=)
n.1378C=
c.1129C= (p.Pro377=)
c.1114-25C= (n.1114-25C=)
c.1222C= (p.Pro408=)
c.901C= (p.Pro301=)
c.1201C= (p.Pro401=)
c.1204C= (p.Pro402=)
c.883C= (p.Pro295=)
c.1048C= (p.Pro350=)
c.*548C= (n.*548C=)
c.715C= (p.Pro239=)
c.1174C= (p.Pro392=)
c.1066C= (p.Pro356=)
c.1219C= (p.Pro407=)
c.1171C= (p.Pro391=)
c.1054C= (p.Pro352=)
c.1036C= (p.Pro346=)
3g.69964889C>GCA2490626MITFc.1156C>G (p.Pro386Ala)
c.1153C>G (p.Pro385Ala)
n.1378C>G
c.1129C>G (p.Pro377Ala)
c.1114-25C>G (n.1114-25C>G)
c.1222C>G (p.Pro408Ala)
c.901C>G (p.Pro301Ala)
c.1201C>G (p.Pro401Ala)
c.1204C>G (p.Pro402Ala)
c.883C>G (p.Pro295Ala)
c.1048C>G (p.Pro350Ala)
c.*548C>G (n.*548C>G)
c.715C>G (p.Pro239Ala)
c.1174C>G (p.Pro392Ala)
c.1066C>G (p.Pro356Ala)
c.1219C>G (p.Pro407Ala)
c.1171C>G (p.Pro391Ala)
c.1054C>G (p.Pro352Ala)
c.1036C>G (p.Pro346Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964889C>TCA353559391MITFc.1156C>T (p.Pro386Ser)
c.1153C>T (p.Pro385Ser)
n.1378C>T
c.1129C>T (p.Pro377Ser)
c.1114-25C>T (n.1114-25C>T)
c.1222C>T (p.Pro408Ser)
c.901C>T (p.Pro301Ser)
c.1201C>T (p.Pro401Ser)
c.1204C>T (p.Pro402Ser)
c.883C>T (p.Pro295Ser)
c.1048C>T (p.Pro350Ser)
c.*548C>T (n.*548C>T)
c.715C>T (p.Pro239Ser)
c.1174C>T (p.Pro392Ser)
c.1066C>T (p.Pro356Ser)
c.1219C>T (p.Pro407Ser)
c.1171C>T (p.Pro391Ser)
c.1054C>T (p.Pro352Ser)
c.1036C>T (p.Pro346Ser)
3g.69964890C>ACA353559394MITFc.1157C>A (p.Pro386Gln)
c.1154C>A (p.Pro385Gln)
n.1379C>A
c.1130C>A (p.Pro377Gln)
c.1114-24C>A (n.1114-24C>A)
c.1223C>A (p.Pro408Gln)
c.902C>A (p.Pro301Gln)
c.1202C>A (p.Pro401Gln)
c.1205C>A (p.Pro402Gln)
c.884C>A (p.Pro295Gln)
c.1049C>A (p.Pro350Gln)
c.*549C>A (n.*549C>A)
c.716C>A (p.Pro239Gln)
c.1175C>A (p.Pro392Gln)
c.1067C>A (p.Pro356Gln)
c.1220C>A (p.Pro407Gln)
c.1172C>A (p.Pro391Gln)
c.1055C>A (p.Pro352Gln)
c.1037C>A (p.Pro346Gln)
3g.69964890C>GCA353559393MITFc.1157C>G (p.Pro386Arg)
c.1154C>G (p.Pro385Arg)
n.1379C>G
c.1130C>G (p.Pro377Arg)
c.1114-24C>G (n.1114-24C>G)
c.1223C>G (p.Pro408Arg)
c.902C>G (p.Pro301Arg)
c.1202C>G (p.Pro401Arg)
c.1205C>G (p.Pro402Arg)
c.884C>G (p.Pro295Arg)
c.1049C>G (p.Pro350Arg)
c.*549C>G (n.*549C>G)
c.716C>G (p.Pro239Arg)
c.1175C>G (p.Pro392Arg)
c.1067C>G (p.Pro356Arg)
c.1220C>G (p.Pro407Arg)
c.1172C>G (p.Pro391Arg)
c.1055C>G (p.Pro352Arg)
c.1037C>G (p.Pro346Arg)
3g.69964890C>TCA353559392MITFc.1157C>T (p.Pro386Leu)
c.1154C>T (p.Pro385Leu)
n.1379C>T
c.1130C>T (p.Pro377Leu)
c.1114-24C>T (n.1114-24C>T)
c.1223C>T (p.Pro408Leu)
c.902C>T (p.Pro301Leu)
c.1202C>T (p.Pro401Leu)
c.1205C>T (p.Pro402Leu)
c.884C>T (p.Pro295Leu)
c.1049C>T (p.Pro350Leu)
c.*549C>T (n.*549C>T)
c.716C>T (p.Pro239Leu)
c.1175C>T (p.Pro392Leu)
c.1067C>T (p.Pro356Leu)
c.1220C>T (p.Pro407Leu)
c.1172C>T (p.Pro391Leu)
c.1055C>T (p.Pro352Leu)
c.1037C>T (p.Pro346Leu)
 dbSNP
3g.69964891A=CA1373413925MITFc.1158A= (p.Pro386=)
c.1155A= (p.Pro385=)
n.1380A=
c.1131A= (p.Pro377=)
c.1114-23A= (n.1114-23A=)
c.1224A= (p.Pro408=)
c.903A= (p.Pro301=)
c.1203A= (p.Pro401=)
c.1206A= (p.Pro402=)
c.885A= (p.Pro295=)
c.1050A= (p.Pro350=)
c.*550A= (n.*550A=)
c.717A= (p.Pro239=)
c.1176A= (p.Pro392=)
c.1068A= (p.Pro356=)
c.1221A= (p.Pro407=)
c.1173A= (p.Pro391=)
c.1056A= (p.Pro352=)
c.1038A= (p.Pro346=)
3g.69964891A>CCA434433388MITFc.1158A>C (p.Pro386=)
c.1155A>C (p.Pro385=)
n.1380A>C
c.1131A>C (p.Pro377=)
c.1114-23A>C (n.1114-23A>C)
c.1224A>C (p.Pro408=)
c.903A>C (p.Pro301=)
c.1203A>C (p.Pro401=)
c.1206A>C (p.Pro402=)
c.885A>C (p.Pro295=)
c.1050A>C (p.Pro350=)
c.*550A>C (n.*550A>C)
c.717A>C (p.Pro239=)
c.1176A>C (p.Pro392=)
c.1068A>C (p.Pro356=)
c.1221A>C (p.Pro407=)
c.1173A>C (p.Pro391=)
c.1056A>C (p.Pro352=)
c.1038A>C (p.Pro346=)
3g.69964891A>GCA434433389MITFc.1158A>G (p.Pro386=)
c.1155A>G (p.Pro385=)
n.1380A>G
c.1131A>G (p.Pro377=)
c.1114-23A>G (n.1114-23A>G)
c.1224A>G (p.Pro408=)
c.903A>G (p.Pro301=)
c.1203A>G (p.Pro401=)
c.1206A>G (p.Pro402=)
c.885A>G (p.Pro295=)
c.1050A>G (p.Pro350=)
c.*550A>G (n.*550A>G)
c.717A>G (p.Pro239=)
c.1176A>G (p.Pro392=)
c.1068A>G (p.Pro356=)
c.1221A>G (p.Pro407=)
c.1173A>G (p.Pro391=)
c.1056A>G (p.Pro352=)
c.1038A>G (p.Pro346=)
 dbSNP gnomAD v3 gnomAD v4
3g.69964891A>TCA2490627MITFc.1158A>T (p.Pro386=)
c.1155A>T (p.Pro385=)
n.1380A>T
c.1131A>T (p.Pro377=)
c.1114-23A>T (n.1114-23A>T)
c.1224A>T (p.Pro408=)
c.903A>T (p.Pro301=)
c.1203A>T (p.Pro401=)
c.1206A>T (p.Pro402=)
c.885A>T (p.Pro295=)
c.1050A>T (p.Pro350=)
c.*550A>T (n.*550A>T)
c.717A>T (p.Pro239=)
c.1176A>T (p.Pro392=)
c.1068A>T (p.Pro356=)
c.1221A>T (p.Pro407=)
c.1173A>T (p.Pro391=)
c.1056A>T (p.Pro352=)
c.1038A>T (p.Pro346=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964892T>ACA353559395MITFc.1159T>A (p.Ser387Thr)
c.1156T>A (p.Ser386Thr)
n.1381T>A
c.1132T>A (p.Ser378Thr)
c.1114-22T>A (n.1114-22T>A)
c.1225T>A (p.Ser409Thr)
c.904T>A (p.Ser302Thr)
c.1204T>A (p.Ser402Thr)
c.1207T>A (p.Ser403Thr)
c.886T>A (p.Ser296Thr)
c.1051T>A (p.Ser351Thr)
c.*551T>A (n.*551T>A)
c.718T>A (p.Ser240Thr)
c.1177T>A (p.Ser393Thr)
c.1069T>A (p.Ser357Thr)
c.1222T>A (p.Ser408Thr)
c.1174T>A (p.Ser392Thr)
c.1057T>A (p.Ser353Thr)
c.1039T>A (p.Ser347Thr)
3g.69964892T>CCA353559396MITFc.1159T>C (p.Ser387Pro)
c.1156T>C (p.Ser386Pro)
n.1381T>C
c.1132T>C (p.Ser378Pro)
c.1114-22T>C (n.1114-22T>C)
c.1225T>C (p.Ser409Pro)
c.904T>C (p.Ser302Pro)
c.1204T>C (p.Ser402Pro)
c.1207T>C (p.Ser403Pro)
c.886T>C (p.Ser296Pro)
c.1051T>C (p.Ser351Pro)
c.*551T>C (n.*551T>C)
c.718T>C (p.Ser240Pro)
c.1177T>C (p.Ser393Pro)
c.1069T>C (p.Ser357Pro)
c.1222T>C (p.Ser408Pro)
c.1174T>C (p.Ser392Pro)
c.1057T>C (p.Ser353Pro)
c.1039T>C (p.Ser347Pro)
 dbSNP
3g.69964892T>GCA353559397MITFc.1159T>G (p.Ser387Ala)
c.1156T>G (p.Ser386Ala)
n.1381T>G
c.1132T>G (p.Ser378Ala)
c.1114-22T>G (n.1114-22T>G)
c.1225T>G (p.Ser409Ala)
c.904T>G (p.Ser302Ala)
c.1204T>G (p.Ser402Ala)
c.1207T>G (p.Ser403Ala)
c.886T>G (p.Ser296Ala)
c.1051T>G (p.Ser351Ala)
c.*551T>G (n.*551T>G)
c.718T>G (p.Ser240Ala)
c.1177T>G (p.Ser393Ala)
c.1069T>G (p.Ser357Ala)
c.1222T>G (p.Ser408Ala)
c.1174T>G (p.Ser392Ala)
c.1057T>G (p.Ser353Ala)
c.1039T>G (p.Ser347Ala)
3g.69964892T=CA1373413928MITFc.1159T= (p.Ser387=)
c.1156T= (p.Ser386=)
n.1381T=
c.1132T= (p.Ser378=)
c.1114-22T= (n.1114-22T=)
c.1225T= (p.Ser409=)
c.904T= (p.Ser302=)
c.1204T= (p.Ser402=)
c.1207T= (p.Ser403=)
c.886T= (p.Ser296=)
c.1051T= (p.Ser351=)
c.*551T= (n.*551T=)
c.718T= (p.Ser240=)
c.1177T= (p.Ser393=)
c.1069T= (p.Ser357=)
c.1222T= (p.Ser408=)
c.1174T= (p.Ser392=)
c.1057T= (p.Ser353=)
c.1039T= (p.Ser347=)
3g.69964893C>ACA353559398MITFc.1160C>A (p.Ser387Tyr)
c.1157C>A (p.Ser386Tyr)
n.1382C>A
c.1133C>A (p.Ser378Tyr)
c.1114-21C>A (n.1114-21C>A)
c.1226C>A (p.Ser409Tyr)
c.905C>A (p.Ser302Tyr)
c.1205C>A (p.Ser402Tyr)
c.1208C>A (p.Ser403Tyr)
c.887C>A (p.Ser296Tyr)
c.1052C>A (p.Ser351Tyr)
c.*552C>A (n.*552C>A)
c.719C>A (p.Ser240Tyr)
c.1178C>A (p.Ser393Tyr)
c.1070C>A (p.Ser357Tyr)
c.1223C>A (p.Ser408Tyr)
c.1175C>A (p.Ser392Tyr)
c.1058C>A (p.Ser353Tyr)
c.1040C>A (p.Ser347Tyr)
 gnomAD v4
3g.69964893C>GCA353559399MITFc.1160C>G (p.Ser387Cys)
c.1157C>G (p.Ser386Cys)
n.1382C>G
c.1133C>G (p.Ser378Cys)
c.1114-21C>G (n.1114-21C>G)
c.1226C>G (p.Ser409Cys)
c.905C>G (p.Ser302Cys)
c.1205C>G (p.Ser402Cys)
c.1208C>G (p.Ser403Cys)
c.887C>G (p.Ser296Cys)
c.1052C>G (p.Ser351Cys)
c.*552C>G (n.*552C>G)
c.719C>G (p.Ser240Cys)
c.1178C>G (p.Ser393Cys)
c.1070C>G (p.Ser357Cys)
c.1223C>G (p.Ser408Cys)
c.1175C>G (p.Ser392Cys)
c.1058C>G (p.Ser353Cys)
c.1040C>G (p.Ser347Cys)
3g.69964893C>TCA353559400MITFc.1160C>T (p.Ser387Phe)
c.1157C>T (p.Ser386Phe)
n.1382C>T
c.1133C>T (p.Ser378Phe)
c.1114-21C>T (n.1114-21C>T)
c.1226C>T (p.Ser409Phe)
c.905C>T (p.Ser302Phe)
c.1205C>T (p.Ser402Phe)
c.1208C>T (p.Ser403Phe)
c.887C>T (p.Ser296Phe)
c.1052C>T (p.Ser351Phe)
c.*552C>T (n.*552C>T)
c.719C>T (p.Ser240Phe)
c.1178C>T (p.Ser393Phe)
c.1070C>T (p.Ser357Phe)
c.1223C>T (p.Ser408Phe)
c.1175C>T (p.Ser392Phe)
c.1058C>T (p.Ser353Phe)
c.1040C>T (p.Ser347Phe)
 gnomAD v4
3g.69964894C>ACA434433390MITFc.1161C>A (p.Ser387=)
c.1158C>A (p.Ser386=)
n.1383C>A
c.1134C>A (p.Ser378=)
c.1114-20C>A (n.1114-20C>A)
c.1227C>A (p.Ser409=)
c.906C>A (p.Ser302=)
c.1206C>A (p.Ser402=)
c.1209C>A (p.Ser403=)
c.888C>A (p.Ser296=)
c.1053C>A (p.Ser351=)
c.*553C>A (n.*553C>A)
c.720C>A (p.Ser240=)
c.1179C>A (p.Ser393=)
c.1071C>A (p.Ser357=)
c.1224C>A (p.Ser408=)
c.1176C>A (p.Ser392=)
c.1059C>A (p.Ser353=)
c.1041C>A (p.Ser347=)
3g.69964894C>GCA434433391MITFc.1161C>G (p.Ser387=)
c.1158C>G (p.Ser386=)
n.1383C>G
c.1134C>G (p.Ser378=)
c.1114-20C>G (n.1114-20C>G)
c.1227C>G (p.Ser409=)
c.906C>G (p.Ser302=)
c.1206C>G (p.Ser402=)
c.1209C>G (p.Ser403=)
c.888C>G (p.Ser296=)
c.1053C>G (p.Ser351=)
c.*553C>G (n.*553C>G)
c.720C>G (p.Ser240=)
c.1179C>G (p.Ser393=)
c.1071C>G (p.Ser357=)
c.1224C>G (p.Ser408=)
c.1176C>G (p.Ser392=)
c.1059C>G (p.Ser353=)
c.1041C>G (p.Ser347=)
3g.69964894C>TCA434433392MITFc.1161C>T (p.Ser387=)
c.1158C>T (p.Ser386=)
n.1383C>T
c.1134C>T (p.Ser378=)
c.1114-20C>T (n.1114-20C>T)
c.1227C>T (p.Ser409=)
c.906C>T (p.Ser302=)
c.1206C>T (p.Ser402=)
c.1209C>T (p.Ser403=)
c.888C>T (p.Ser296=)
c.1053C>T (p.Ser351=)
c.*553C>T (n.*553C>T)
c.720C>T (p.Ser240=)
c.1179C>T (p.Ser393=)
c.1071C>T (p.Ser357=)
c.1224C>T (p.Ser408=)
c.1176C>T (p.Ser392=)
c.1059C>T (p.Ser353=)
c.1041C>T (p.Ser347=)
 dbSNP
3g.69964895A>CCA353559401MITFc.1162A>C (p.Thr388Pro)
c.1159A>C (p.Thr387Pro)
n.1384A>C
c.1135A>C (p.Thr379Pro)
c.1114-19A>C (n.1114-19A>C)
c.1228A>C (p.Thr410Pro)
c.907A>C (p.Thr303Pro)
c.1207A>C (p.Thr403Pro)
c.1210A>C (p.Thr404Pro)
c.889A>C (p.Thr297Pro)
c.1054A>C (p.Thr352Pro)
c.*554A>C (n.*554A>C)
c.721A>C (p.Thr241Pro)
c.1180A>C (p.Thr394Pro)
c.1072A>C (p.Thr358Pro)
c.1225A>C (p.Thr409Pro)
c.1177A>C (p.Thr393Pro)
c.1060A>C (p.Thr354Pro)
c.1042A>C (p.Thr348Pro)
3g.69964895A>GCA353559402MITFc.1162A>G (p.Thr388Ala)
c.1159A>G (p.Thr387Ala)
n.1384A>G
c.1135A>G (p.Thr379Ala)
c.1114-19A>G (n.1114-19A>G)
c.1228A>G (p.Thr410Ala)
c.907A>G (p.Thr303Ala)
c.1207A>G (p.Thr403Ala)
c.1210A>G (p.Thr404Ala)
c.889A>G (p.Thr297Ala)
c.1054A>G (p.Thr352Ala)
c.*554A>G (n.*554A>G)
c.721A>G (p.Thr241Ala)
c.1180A>G (p.Thr394Ala)
c.1072A>G (p.Thr358Ala)
c.1225A>G (p.Thr409Ala)
c.1177A>G (p.Thr393Ala)
c.1060A>G (p.Thr354Ala)
c.1042A>G (p.Thr348Ala)
 ClinVar
3g.69964895A>TCA353559403MITFc.1162A>T (p.Thr388Ser)
c.1159A>T (p.Thr387Ser)
n.1384A>T
c.1135A>T (p.Thr379Ser)
c.1114-19A>T (n.1114-19A>T)
c.1228A>T (p.Thr410Ser)
c.907A>T (p.Thr303Ser)
c.1207A>T (p.Thr403Ser)
c.1210A>T (p.Thr404Ser)
c.889A>T (p.Thr297Ser)
c.1054A>T (p.Thr352Ser)
c.*554A>T (n.*554A>T)
c.721A>T (p.Thr241Ser)
c.1180A>T (p.Thr394Ser)
c.1072A>T (p.Thr358Ser)
c.1225A>T (p.Thr409Ser)
c.1177A>T (p.Thr393Ser)
c.1060A>T (p.Thr354Ser)
c.1042A>T (p.Thr348Ser)
3g.69964896C>ACA353559404MITFc.1163C>A (p.Thr388Lys)
c.1160C>A (p.Thr387Lys)
n.1385C>A
c.1136C>A (p.Thr379Lys)
c.1114-18C>A (n.1114-18C>A)
c.1229C>A (p.Thr410Lys)
c.908C>A (p.Thr303Lys)
c.1208C>A (p.Thr403Lys)
c.1211C>A (p.Thr404Lys)
c.890C>A (p.Thr297Lys)
c.1055C>A (p.Thr352Lys)
c.*555C>A (n.*555C>A)
c.722C>A (p.Thr241Lys)
c.1181C>A (p.Thr394Lys)
c.1073C>A (p.Thr358Lys)
c.1226C>A (p.Thr409Lys)
c.1178C>A (p.Thr393Lys)
c.1061C>A (p.Thr354Lys)
c.1043C>A (p.Thr348Lys)
3g.69964896C=CA1373413930MITFc.1163C= (p.Thr388=)
c.1160C= (p.Thr387=)
n.1385C=
c.1136C= (p.Thr379=)
c.1114-18C= (n.1114-18C=)
c.1229C= (p.Thr410=)
c.908C= (p.Thr303=)
c.1208C= (p.Thr403=)
c.1211C= (p.Thr404=)
c.890C= (p.Thr297=)
c.1055C= (p.Thr352=)
c.*555C= (n.*555C=)
c.722C= (p.Thr241=)
c.1181C= (p.Thr394=)
c.1073C= (p.Thr358=)
c.1226C= (p.Thr409=)
c.1178C= (p.Thr393=)
c.1061C= (p.Thr354=)
c.1043C= (p.Thr348=)
3g.69964896C>GCA353559405MITFc.1163C>G (p.Thr388Arg)
c.1160C>G (p.Thr387Arg)
n.1385C>G
c.1136C>G (p.Thr379Arg)
c.1114-18C>G (n.1114-18C>G)
c.1229C>G (p.Thr410Arg)
c.908C>G (p.Thr303Arg)
c.1208C>G (p.Thr403Arg)
c.1211C>G (p.Thr404Arg)
c.890C>G (p.Thr297Arg)
c.1055C>G (p.Thr352Arg)
c.*555C>G (n.*555C>G)
c.722C>G (p.Thr241Arg)
c.1181C>G (p.Thr394Arg)
c.1073C>G (p.Thr358Arg)
c.1226C>G (p.Thr409Arg)
c.1178C>G (p.Thr393Arg)
c.1061C>G (p.Thr354Arg)
c.1043C>G (p.Thr348Arg)
3g.69964896C>TCA2490628MITFc.1163C>T (p.Thr388Met)
c.1160C>T (p.Thr387Met)
n.1385C>T
c.1136C>T (p.Thr379Met)
c.1114-18C>T (n.1114-18C>T)
c.1229C>T (p.Thr410Met)
c.908C>T (p.Thr303Met)
c.1208C>T (p.Thr403Met)
c.1211C>T (p.Thr404Met)
c.890C>T (p.Thr297Met)
c.1055C>T (p.Thr352Met)
c.*555C>T (n.*555C>T)
c.722C>T (p.Thr241Met)
c.1181C>T (p.Thr394Met)
c.1073C>T (p.Thr358Met)
c.1226C>T (p.Thr409Met)
c.1178C>T (p.Thr393Met)
c.1061C>T (p.Thr354Met)
c.1043C>T (p.Thr348Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964897G>ACA16604634MITFc.1164G>A (p.Thr388=)
c.1161G>A (p.Thr387=)
n.1386G>A
c.1137G>A (p.Thr379=)
c.1114-17G>A (n.1114-17G>A)
c.1230G>A (p.Thr410=)
c.909G>A (p.Thr303=)
c.1209G>A (p.Thr403=)
c.1212G>A (p.Thr404=)
c.891G>A (p.Thr297=)
c.1056G>A (p.Thr352=)
c.*556G>A (n.*556G>A)
c.723G>A (p.Thr241=)
c.1182G>A (p.Thr394=)
c.1074G>A (p.Thr358=)
c.1227G>A (p.Thr409=)
c.1179G>A (p.Thr393=)
c.1062G>A (p.Thr354=)
c.1044G>A (p.Thr348=)
 ClinVar dbSNP
3g.69964897G>CCA434433396MITFc.1164G>C (p.Thr388=)
c.1161G>C (p.Thr387=)
n.1386G>C
c.1137G>C (p.Thr379=)
c.1114-17G>C (n.1114-17G>C)
c.1230G>C (p.Thr410=)
c.909G>C (p.Thr303=)
c.1209G>C (p.Thr403=)
c.1212G>C (p.Thr404=)
c.891G>C (p.Thr297=)
c.1056G>C (p.Thr352=)
c.*556G>C (n.*556G>C)
c.723G>C (p.Thr241=)
c.1182G>C (p.Thr394=)
c.1074G>C (p.Thr358=)
c.1227G>C (p.Thr409=)
c.1179G>C (p.Thr393=)
c.1062G>C (p.Thr354=)
c.1044G>C (p.Thr348=)
 dbSNP
3g.69964897G=CA1373413938MITFc.1164G= (p.Thr388=)
c.1161G= (p.Thr387=)
n.1386G=
c.1137G= (p.Thr379=)
c.1114-17G= (n.1114-17G=)
c.1230G= (p.Thr410=)
c.909G= (p.Thr303=)
c.1209G= (p.Thr403=)
c.1212G= (p.Thr404=)
c.891G= (p.Thr297=)
c.1056G= (p.Thr352=)
c.*556G= (n.*556G=)
c.723G= (p.Thr241=)
c.1182G= (p.Thr394=)
c.1074G= (p.Thr358=)
c.1227G= (p.Thr409=)
c.1179G= (p.Thr393=)
c.1062G= (p.Thr354=)
c.1044G= (p.Thr348=)
3g.69964897G>TCA434433397MITFc.1164G>T (p.Thr388=)
c.1161G>T (p.Thr387=)
n.1386G>T
c.1137G>T (p.Thr379=)
c.1114-17G>T (n.1114-17G>T)
c.1230G>T (p.Thr410=)
c.909G>T (p.Thr303=)
c.1209G>T (p.Thr403=)
c.1212G>T (p.Thr404=)
c.891G>T (p.Thr297=)
c.1056G>T (p.Thr352=)
c.*556G>T (n.*556G>T)
c.723G>T (p.Thr241=)
c.1182G>T (p.Thr394=)
c.1074G>T (p.Thr358=)
c.1227G>T (p.Thr409=)
c.1179G>T (p.Thr393=)
c.1062G>T (p.Thr354=)
c.1044G>T (p.Thr348=)
3g.69964898G>ACA353559408MITFc.1165G>A (p.Gly389Ser)
c.1162G>A (p.Gly388Ser)
n.1387G>A
c.1138G>A (p.Gly380Ser)
c.1114-16G>A (n.1114-16G>A)
c.1231G>A (p.Gly411Ser)
c.910G>A (p.Gly304Ser)
c.1210G>A (p.Gly404Ser)
c.1213G>A (p.Gly405Ser)
c.892G>A (p.Gly298Ser)
c.1057G>A (p.Gly353Ser)
c.*557G>A (n.*557G>A)
c.724G>A (p.Gly242Ser)
c.1183G>A (p.Gly395Ser)
c.1075G>A (p.Gly359Ser)
c.1228G>A (p.Gly410Ser)
c.1180G>A (p.Gly394Ser)
c.1063G>A (p.Gly355Ser)
c.1045G>A (p.Gly349Ser)
3g.69964898G>CCA353559406MITFc.1165G>C (p.Gly389Arg)
c.1162G>C (p.Gly388Arg)
n.1387G>C
c.1138G>C (p.Gly380Arg)
c.1114-16G>C (n.1114-16G>C)
c.1231G>C (p.Gly411Arg)
c.910G>C (p.Gly304Arg)
c.1210G>C (p.Gly404Arg)
c.1213G>C (p.Gly405Arg)
c.892G>C (p.Gly298Arg)
c.1057G>C (p.Gly353Arg)
c.*557G>C (n.*557G>C)
c.724G>C (p.Gly242Arg)
c.1183G>C (p.Gly395Arg)
c.1075G>C (p.Gly359Arg)
c.1228G>C (p.Gly410Arg)
c.1180G>C (p.Gly394Arg)
c.1063G>C (p.Gly355Arg)
c.1045G>C (p.Gly349Arg)
 dbSNP
3g.69964898G>TCA353559407MITFc.1165G>T (p.Gly389Cys)
c.1162G>T (p.Gly388Cys)
n.1387G>T
c.1138G>T (p.Gly380Cys)
c.1114-16G>T (n.1114-16G>T)
c.1231G>T (p.Gly411Cys)
c.910G>T (p.Gly304Cys)
c.1210G>T (p.Gly404Cys)
c.1213G>T (p.Gly405Cys)
c.892G>T (p.Gly298Cys)
c.1057G>T (p.Gly353Cys)
c.*557G>T (n.*557G>T)
c.724G>T (p.Gly242Cys)
c.1183G>T (p.Gly395Cys)
c.1075G>T (p.Gly359Cys)
c.1228G>T (p.Gly410Cys)
c.1180G>T (p.Gly394Cys)
c.1063G>T (p.Gly355Cys)
c.1045G>T (p.Gly349Cys)
 gnomAD v4
3g.69964899G>ACA353559409MITFc.1166G>A (p.Gly389Asp)
c.1163G>A (p.Gly388Asp)
n.1388G>A
c.1139G>A (p.Gly380Asp)
c.1114-15G>A (n.1114-15G>A)
c.1232G>A (p.Gly411Asp)
c.911G>A (p.Gly304Asp)
c.1211G>A (p.Gly404Asp)
c.1214G>A (p.Gly405Asp)
c.893G>A (p.Gly298Asp)
c.1058G>A (p.Gly353Asp)
c.*558G>A (n.*558G>A)
c.725G>A (p.Gly242Asp)
c.1184G>A (p.Gly395Asp)
c.1076G>A (p.Gly359Asp)
c.1229G>A (p.Gly410Asp)
c.1181G>A (p.Gly394Asp)
c.1064G>A (p.Gly355Asp)
c.1046G>A (p.Gly349Asp)
 dbSNP gnomAD v4
3g.69964899G>CCA353559410MITFc.1166G>C (p.Gly389Ala)
c.1163G>C (p.Gly388Ala)
n.1388G>C
c.1139G>C (p.Gly380Ala)
c.1114-15G>C (n.1114-15G>C)
c.1232G>C (p.Gly411Ala)
c.911G>C (p.Gly304Ala)
c.1211G>C (p.Gly404Ala)
c.1214G>C (p.Gly405Ala)
c.893G>C (p.Gly298Ala)
c.1058G>C (p.Gly353Ala)
c.*558G>C (n.*558G>C)
c.725G>C (p.Gly242Ala)
c.1184G>C (p.Gly395Ala)
c.1076G>C (p.Gly359Ala)
c.1229G>C (p.Gly410Ala)
c.1181G>C (p.Gly394Ala)
c.1064G>C (p.Gly355Ala)
c.1046G>C (p.Gly349Ala)
3g.69964899G>TCA353559411MITFc.1166G>T (p.Gly389Val)
c.1163G>T (p.Gly388Val)
n.1388G>T
c.1139G>T (p.Gly380Val)
c.1114-15G>T (n.1114-15G>T)
c.1232G>T (p.Gly411Val)
c.911G>T (p.Gly304Val)
c.1211G>T (p.Gly404Val)
c.1214G>T (p.Gly405Val)
c.893G>T (p.Gly298Val)
c.1058G>T (p.Gly353Val)
c.*558G>T (n.*558G>T)
c.725G>T (p.Gly242Val)
c.1184G>T (p.Gly395Val)
c.1076G>T (p.Gly359Val)
c.1229G>T (p.Gly410Val)
c.1181G>T (p.Gly394Val)
c.1064G>T (p.Gly355Val)
c.1046G>T (p.Gly349Val)
 ClinVar
3g.69964900T>ACA434433398MITFc.1167T>A (p.Gly389=)
c.1164T>A (p.Gly388=)
n.1389T>A
c.1140T>A (p.Gly380=)
c.1114-14T>A (n.1114-14T>A)
c.1233T>A (p.Gly411=)
c.912T>A (p.Gly304=)
c.1212T>A (p.Gly404=)
c.1215T>A (p.Gly405=)
c.894T>A (p.Gly298=)
c.1059T>A (p.Gly353=)
c.*559T>A (n.*559T>A)
c.726T>A (p.Gly242=)
c.1185T>A (p.Gly395=)
c.1077T>A (p.Gly359=)
c.1230T>A (p.Gly410=)
c.1182T>A (p.Gly394=)
c.1065T>A (p.Gly355=)
c.1047T>A (p.Gly349=)
 dbSNP
3g.69964900T>CCA434433399MITFc.1167T>C (p.Gly389=)
c.1164T>C (p.Gly388=)
n.1389T>C
c.1140T>C (p.Gly380=)
c.1114-14T>C (n.1114-14T>C)
c.1233T>C (p.Gly411=)
c.912T>C (p.Gly304=)
c.1212T>C (p.Gly404=)
c.1215T>C (p.Gly405=)
c.894T>C (p.Gly298=)
c.1059T>C (p.Gly353=)
c.*559T>C (n.*559T>C)
c.726T>C (p.Gly242=)
c.1185T>C (p.Gly395=)
c.1077T>C (p.Gly359=)
c.1230T>C (p.Gly410=)
c.1182T>C (p.Gly394=)
c.1065T>C (p.Gly355=)
c.1047T>C (p.Gly349=)
3g.69964900T>GCA434433400MITFc.1167T>G (p.Gly389=)
c.1164T>G (p.Gly388=)
n.1389T>G
c.1140T>G (p.Gly380=)
c.1114-14T>G (n.1114-14T>G)
c.1233T>G (p.Gly411=)
c.912T>G (p.Gly304=)
c.1212T>G (p.Gly404=)
c.1215T>G (p.Gly405=)
c.894T>G (p.Gly298=)
c.1059T>G (p.Gly353=)
c.*559T>G (n.*559T>G)
c.726T>G (p.Gly242=)
c.1185T>G (p.Gly395=)
c.1077T>G (p.Gly359=)
c.1230T>G (p.Gly410=)
c.1182T>G (p.Gly394=)
c.1065T>G (p.Gly355=)
c.1047T>G (p.Gly349=)
 dbSNP
3g.69964900T=CA1373413942MITFc.1167T= (p.Gly389=)
c.1164T= (p.Gly388=)
n.1389T=
c.1140T= (p.Gly380=)
c.1114-14T= (n.1114-14T=)
c.1233T= (p.Gly411=)
c.912T= (p.Gly304=)
c.1212T= (p.Gly404=)
c.1215T= (p.Gly405=)
c.894T= (p.Gly298=)
c.1059T= (p.Gly353=)
c.*559T= (n.*559T=)
c.726T= (p.Gly242=)
c.1185T= (p.Gly395=)
c.1077T= (p.Gly359=)
c.1230T= (p.Gly410=)
c.1182T= (p.Gly394=)
c.1065T= (p.Gly355=)
c.1047T= (p.Gly349=)
3g.69964901C>ACA353559412MITFc.1168C>A (p.Leu390Ile)
c.1165C>A (p.Leu389Ile)
n.1390C>A
c.1141C>A (p.Leu381Ile)
c.1114-13C>A (n.1114-13C>A)
c.1234C>A (p.Leu412Ile)
c.913C>A (p.Leu305Ile)
c.1213C>A (p.Leu405Ile)
c.1216C>A (p.Leu406Ile)
c.895C>A (p.Leu299Ile)
c.1060C>A (p.Leu354Ile)
c.*560C>A (n.*560C>A)
c.727C>A (p.Leu243Ile)
c.1186C>A (p.Leu396Ile)
c.1078C>A (p.Leu360Ile)
c.1231C>A (p.Leu411Ile)
c.1183C>A (p.Leu395Ile)
c.1066C>A (p.Leu356Ile)
c.1048C>A (p.Leu350Ile)
3g.69964901C>GCA353559413MITFc.1168C>G (p.Leu390Val)
c.1165C>G (p.Leu389Val)
n.1390C>G
c.1141C>G (p.Leu381Val)
c.1114-13C>G (n.1114-13C>G)
c.1234C>G (p.Leu412Val)
c.913C>G (p.Leu305Val)
c.1213C>G (p.Leu405Val)
c.1216C>G (p.Leu406Val)
c.895C>G (p.Leu299Val)
c.1060C>G (p.Leu354Val)
c.*560C>G (n.*560C>G)
c.727C>G (p.Leu243Val)
c.1186C>G (p.Leu396Val)
c.1078C>G (p.Leu360Val)
c.1231C>G (p.Leu411Val)
c.1183C>G (p.Leu395Val)
c.1066C>G (p.Leu356Val)
c.1048C>G (p.Leu350Val)
3g.69964901C>TCA353559414MITFc.1168C>T (p.Leu390Phe)
c.1165C>T (p.Leu389Phe)
n.1390C>T
c.1141C>T (p.Leu381Phe)
c.1114-13C>T (n.1114-13C>T)
c.1234C>T (p.Leu412Phe)
c.913C>T (p.Leu305Phe)
c.1213C>T (p.Leu405Phe)
c.1216C>T (p.Leu406Phe)
c.895C>T (p.Leu299Phe)
c.1060C>T (p.Leu354Phe)
c.*560C>T (n.*560C>T)
c.727C>T (p.Leu243Phe)
c.1186C>T (p.Leu396Phe)
c.1078C>T (p.Leu360Phe)
c.1231C>T (p.Leu411Phe)
c.1183C>T (p.Leu395Phe)
c.1066C>T (p.Leu356Phe)
c.1048C>T (p.Leu350Phe)
3g.69964902T>ACA353559415MITFc.1169T>A (p.Leu390His)
c.1166T>A (p.Leu389His)
n.1391T>A
c.1142T>A (p.Leu381His)
c.1114-12T>A (n.1114-12T>A)
c.1235T>A (p.Leu412His)
c.914T>A (p.Leu305His)
c.1214T>A (p.Leu405His)
c.1217T>A (p.Leu406His)
c.896T>A (p.Leu299His)
c.1061T>A (p.Leu354His)
c.*561T>A (n.*561T>A)
c.728T>A (p.Leu243His)
c.1187T>A (p.Leu396His)
c.1079T>A (p.Leu360His)
c.1232T>A (p.Leu411His)
c.1184T>A (p.Leu395His)
c.1067T>A (p.Leu356His)
c.1049T>A (p.Leu350His)
3g.69964902T>CCA353559416MITFc.1169T>C (p.Leu390Pro)
c.1166T>C (p.Leu389Pro)
n.1391T>C
c.1142T>C (p.Leu381Pro)
c.1114-12T>C (n.1114-12T>C)
c.1235T>C (p.Leu412Pro)
c.914T>C (p.Leu305Pro)
c.1214T>C (p.Leu405Pro)
c.1217T>C (p.Leu406Pro)
c.896T>C (p.Leu299Pro)
c.1061T>C (p.Leu354Pro)
c.*561T>C (n.*561T>C)
c.728T>C (p.Leu243Pro)
c.1187T>C (p.Leu396Pro)
c.1079T>C (p.Leu360Pro)
c.1232T>C (p.Leu411Pro)
c.1184T>C (p.Leu395Pro)
c.1067T>C (p.Leu356Pro)
c.1049T>C (p.Leu350Pro)
3g.69964902T>GCA353559417MITFc.1169T>G (p.Leu390Arg)
c.1166T>G (p.Leu389Arg)
n.1391T>G
c.1142T>G (p.Leu381Arg)
c.1114-12T>G (n.1114-12T>G)
c.1235T>G (p.Leu412Arg)
c.914T>G (p.Leu305Arg)
c.1214T>G (p.Leu405Arg)
c.1217T>G (p.Leu406Arg)
c.896T>G (p.Leu299Arg)
c.1061T>G (p.Leu354Arg)
c.*561T>G (n.*561T>G)
c.728T>G (p.Leu243Arg)
c.1187T>G (p.Leu396Arg)
c.1079T>G (p.Leu360Arg)
c.1232T>G (p.Leu411Arg)
c.1184T>G (p.Leu395Arg)
c.1067T>G (p.Leu356Arg)
c.1049T>G (p.Leu350Arg)
3g.69964903C>ACA434433406MITFc.1170C>A (p.Leu390=)
c.1167C>A (p.Leu389=)
n.1392C>A
c.1143C>A (p.Leu381=)
c.1114-11C>A (n.1114-11C>A)
c.1236C>A (p.Leu412=)
c.915C>A (p.Leu305=)
c.1215C>A (p.Leu405=)
c.1218C>A (p.Leu406=)
c.897C>A (p.Leu299=)
c.1062C>A (p.Leu354=)
c.*562C>A (n.*562C>A)
c.729C>A (p.Leu243=)
c.1188C>A (p.Leu396=)
c.1080C>A (p.Leu360=)
c.1233C>A (p.Leu411=)
c.1185C>A (p.Leu395=)
c.1068C>A (p.Leu356=)
c.1050C>A (p.Leu350=)
3g.69964903C>GCA434433404MITFc.1170C>G (p.Leu390=)
c.1167C>G (p.Leu389=)
n.1392C>G
c.1143C>G (p.Leu381=)
c.1114-11C>G (n.1114-11C>G)
c.1236C>G (p.Leu412=)
c.915C>G (p.Leu305=)
c.1215C>G (p.Leu405=)
c.1218C>G (p.Leu406=)
c.897C>G (p.Leu299=)
c.1062C>G (p.Leu354=)
c.*562C>G (n.*562C>G)
c.729C>G (p.Leu243=)
c.1188C>G (p.Leu396=)
c.1080C>G (p.Leu360=)
c.1233C>G (p.Leu411=)
c.1185C>G (p.Leu395=)
c.1068C>G (p.Leu356=)
c.1050C>G (p.Leu350=)
 gnomAD v4
3g.69964903C>TCA434433402MITFc.1170C>T (p.Leu390=)
c.1167C>T (p.Leu389=)
n.1392C>T
c.1143C>T (p.Leu381=)
c.1114-11C>T (n.1114-11C>T)
c.1236C>T (p.Leu412=)
c.915C>T (p.Leu305=)
c.1215C>T (p.Leu405=)
c.1218C>T (p.Leu406=)
c.897C>T (p.Leu299=)
c.1062C>T (p.Leu354=)
c.*562C>T (n.*562C>T)
c.729C>T (p.Leu243=)
c.1188C>T (p.Leu396=)
c.1080C>T (p.Leu360=)
c.1233C>T (p.Leu411=)
c.1185C>T (p.Leu395=)
c.1068C>T (p.Leu356=)
c.1050C>T (p.Leu350=)
3g.69964904T>ACA353559418MITFc.1171T>A (p.Cys391Ser)
c.1168T>A (p.Cys390Ser)
n.1393T>A
c.1144T>A (p.Cys382Ser)
c.1114-10T>A (n.1114-10T>A)
c.1237T>A (p.Cys413Ser)
c.916T>A (p.Cys306Ser)
c.1216T>A (p.Cys406Ser)
c.1219T>A (p.Cys407Ser)
c.898T>A (p.Cys300Ser)
c.1063T>A (p.Cys355Ser)
c.*563T>A (n.*563T>A)
c.730T>A (p.Cys244Ser)
c.1189T>A (p.Cys397Ser)
c.1081T>A (p.Cys361Ser)
c.1234T>A (p.Cys412Ser)
c.1186T>A (p.Cys396Ser)
c.1069T>A (p.Cys357Ser)
c.1051T>A (p.Cys351Ser)
 ClinVar dbSNP
3g.69964904T>CCA353559419MITFc.1171T>C (p.Cys391Arg)
c.1168T>C (p.Cys390Arg)
n.1393T>C
c.1144T>C (p.Cys382Arg)
c.1114-10T>C (n.1114-10T>C)
c.1237T>C (p.Cys413Arg)
c.916T>C (p.Cys306Arg)
c.1216T>C (p.Cys406Arg)
c.1219T>C (p.Cys407Arg)
c.898T>C (p.Cys300Arg)
c.1063T>C (p.Cys355Arg)
c.*563T>C (n.*563T>C)
c.730T>C (p.Cys244Arg)
c.1189T>C (p.Cys397Arg)
c.1081T>C (p.Cys361Arg)
c.1234T>C (p.Cys412Arg)
c.1186T>C (p.Cys396Arg)
c.1069T>C (p.Cys357Arg)
c.1051T>C (p.Cys351Arg)
3g.69964904T>GCA353559420MITFc.1171T>G (p.Cys391Gly)
c.1168T>G (p.Cys390Gly)
n.1393T>G
c.1144T>G (p.Cys382Gly)
c.1114-10T>G (n.1114-10T>G)
c.1237T>G (p.Cys413Gly)
c.916T>G (p.Cys306Gly)
c.1216T>G (p.Cys406Gly)
c.1219T>G (p.Cys407Gly)
c.898T>G (p.Cys300Gly)
c.1063T>G (p.Cys355Gly)
c.*563T>G (n.*563T>G)
c.730T>G (p.Cys244Gly)
c.1189T>G (p.Cys397Gly)
c.1081T>G (p.Cys361Gly)
c.1234T>G (p.Cys412Gly)
c.1186T>G (p.Cys396Gly)
c.1069T>G (p.Cys357Gly)
c.1051T>G (p.Cys351Gly)
3g.69964904T=CA1373413946MITFc.1171T= (p.Cys391=)
c.1168T= (p.Cys390=)
n.1393T=
c.1144T= (p.Cys382=)
c.1114-10T= (n.1114-10T=)
c.1237T= (p.Cys413=)
c.916T= (p.Cys306=)
c.1216T= (p.Cys406=)
c.1219T= (p.Cys407=)
c.898T= (p.Cys300=)
c.1063T= (p.Cys355=)
c.*563T= (n.*563T=)
c.730T= (p.Cys244=)
c.1189T= (p.Cys397=)
c.1081T= (p.Cys361=)
c.1234T= (p.Cys412=)
c.1186T= (p.Cys396=)
c.1069T= (p.Cys357=)
c.1051T= (p.Cys351=)
3g.69964905G>ACA353559422MITFc.1172G>A (p.Cys391Tyr)
c.1169G>A (p.Cys390Tyr)
n.1394G>A
c.1145G>A (p.Cys382Tyr)
c.1114-9G>A (n.1114-9G>A)
c.1238G>A (p.Cys413Tyr)
c.917G>A (p.Cys306Tyr)
c.1217G>A (p.Cys406Tyr)
c.1220G>A (p.Cys407Tyr)
c.899G>A (p.Cys300Tyr)
c.1064G>A (p.Cys355Tyr)
c.*564G>A (n.*564G>A)
c.731G>A (p.Cys244Tyr)
c.1190G>A (p.Cys397Tyr)
c.1082G>A (p.Cys361Tyr)
c.1235G>A (p.Cys412Tyr)
c.1187G>A (p.Cys396Tyr)
c.1070G>A (p.Cys357Tyr)
c.1052G>A (p.Cys351Tyr)
3g.69964905G>CCA353559423MITFc.1172G>C (p.Cys391Ser)
c.1169G>C (p.Cys390Ser)
n.1394G>C
c.1145G>C (p.Cys382Ser)
c.1114-9G>C (n.1114-9G>C)
c.1238G>C (p.Cys413Ser)
c.917G>C (p.Cys306Ser)
c.1217G>C (p.Cys406Ser)
c.1220G>C (p.Cys407Ser)
c.899G>C (p.Cys300Ser)
c.1064G>C (p.Cys355Ser)
c.*564G>C (n.*564G>C)
c.731G>C (p.Cys244Ser)
c.1190G>C (p.Cys397Ser)
c.1082G>C (p.Cys361Ser)
c.1235G>C (p.Cys412Ser)
c.1187G>C (p.Cys396Ser)
c.1070G>C (p.Cys357Ser)
c.1052G>C (p.Cys351Ser)
3g.69964905G>TCA353559421MITFc.1172G>T (p.Cys391Phe)
c.1169G>T (p.Cys390Phe)
n.1394G>T
c.1145G>T (p.Cys382Phe)
c.1114-9G>T (n.1114-9G>T)
c.1238G>T (p.Cys413Phe)
c.917G>T (p.Cys306Phe)
c.1217G>T (p.Cys406Phe)
c.1220G>T (p.Cys407Phe)
c.899G>T (p.Cys300Phe)
c.1064G>T (p.Cys355Phe)
c.*564G>T (n.*564G>T)
c.731G>T (p.Cys244Phe)
c.1190G>T (p.Cys397Phe)
c.1082G>T (p.Cys361Phe)
c.1235G>T (p.Cys412Phe)
c.1187G>T (p.Cys396Phe)
c.1070G>T (p.Cys357Phe)
c.1052G>T (p.Cys351Phe)
3g.69964906C>ACA353559425MITFc.1173C>A (p.Cys391Ter)
c.1170C>A (p.Cys390Ter)
n.1395C>A
c.1146C>A (p.Cys382Ter)
c.1114-8C>A (n.1114-8C>A)
c.1239C>A (p.Cys413Ter)
c.918C>A (p.Cys306Ter)
c.1218C>A (p.Cys406Ter)
c.1221C>A (p.Cys407Ter)
c.900C>A (p.Cys300Ter)
c.1065C>A (p.Cys355Ter)
c.*565C>A (n.*565C>A)
c.732C>A (p.Cys244Ter)
c.1191C>A (p.Cys397Ter)
c.1083C>A (p.Cys361Ter)
c.1236C>A (p.Cys412Ter)
c.1188C>A (p.Cys396Ter)
c.1071C>A (p.Cys357Ter)
c.1053C>A (p.Cys351Ter)
3g.69964906C>GCA353559424MITFc.1173C>G (p.Cys391Trp)
c.1170C>G (p.Cys390Trp)
n.1395C>G
c.1146C>G (p.Cys382Trp)
c.1114-8C>G (n.1114-8C>G)
c.1239C>G (p.Cys413Trp)
c.918C>G (p.Cys306Trp)
c.1218C>G (p.Cys406Trp)
c.1221C>G (p.Cys407Trp)
c.900C>G (p.Cys300Trp)
c.1065C>G (p.Cys355Trp)
c.*565C>G (n.*565C>G)
c.732C>G (p.Cys244Trp)
c.1191C>G (p.Cys397Trp)
c.1083C>G (p.Cys361Trp)
c.1236C>G (p.Cys412Trp)
c.1188C>G (p.Cys396Trp)
c.1071C>G (p.Cys357Trp)
c.1053C>G (p.Cys351Trp)
3g.69964906C>TCA434433409MITFc.1173C>T (p.Cys391=)
c.1170C>T (p.Cys390=)
n.1395C>T
c.1146C>T (p.Cys382=)
c.1114-8C>T (n.1114-8C>T)
c.1239C>T (p.Cys413=)
c.918C>T (p.Cys306=)
c.1218C>T (p.Cys406=)
c.1221C>T (p.Cys407=)
c.900C>T (p.Cys300=)
c.1065C>T (p.Cys355=)
c.*565C>T (n.*565C>T)
c.732C>T (p.Cys244=)
c.1191C>T (p.Cys397=)
c.1083C>T (p.Cys361=)
c.1236C>T (p.Cys412=)
c.1188C>T (p.Cys396=)
c.1071C>T (p.Cys357=)
c.1053C>T (p.Cys351=)
3g.69964907T>ACA353559426MITFc.1174T>A (p.Ser392Thr)
c.1171T>A (p.Ser391Thr)
n.1396T>A
c.1147T>A (p.Ser383Thr)
c.1114-7T>A (n.1114-7T>A)
c.1240T>A (p.Ser414Thr)
c.919T>A (p.Ser307Thr)
c.1219T>A (p.Ser407Thr)
c.1222T>A (p.Ser408Thr)
c.901T>A (p.Ser301Thr)
c.1066T>A (p.Ser356Thr)
c.*566T>A (n.*566T>A)
c.733T>A (p.Ser245Thr)
c.1192T>A (p.Ser398Thr)
c.1084T>A (p.Ser362Thr)
c.1237T>A (p.Ser413Thr)
c.1189T>A (p.Ser397Thr)
c.1072T>A (p.Ser358Thr)
c.1054T>A (p.Ser352Thr)
3g.69964907T>CCA353559427MITFc.1174T>C (p.Ser392Pro)
c.1171T>C (p.Ser391Pro)
n.1396T>C
c.1147T>C (p.Ser383Pro)
c.1114-7T>C (n.1114-7T>C)
c.1240T>C (p.Ser414Pro)
c.919T>C (p.Ser307Pro)
c.1219T>C (p.Ser407Pro)
c.1222T>C (p.Ser408Pro)
c.901T>C (p.Ser301Pro)
c.1066T>C (p.Ser356Pro)
c.*566T>C (n.*566T>C)
c.733T>C (p.Ser245Pro)
c.1192T>C (p.Ser398Pro)
c.1084T>C (p.Ser362Pro)
c.1237T>C (p.Ser413Pro)
c.1189T>C (p.Ser397Pro)
c.1072T>C (p.Ser358Pro)
c.1054T>C (p.Ser352Pro)
3g.69964907T>GCA353559428MITFc.1174T>G (p.Ser392Ala)
c.1171T>G (p.Ser391Ala)
n.1396T>G
c.1147T>G (p.Ser383Ala)
c.1114-7T>G (n.1114-7T>G)
c.1240T>G (p.Ser414Ala)
c.919T>G (p.Ser307Ala)
c.1219T>G (p.Ser407Ala)
c.1222T>G (p.Ser408Ala)
c.901T>G (p.Ser301Ala)
c.1066T>G (p.Ser356Ala)
c.*566T>G (n.*566T>G)
c.733T>G (p.Ser245Ala)
c.1192T>G (p.Ser398Ala)
c.1084T>G (p.Ser362Ala)
c.1237T>G (p.Ser413Ala)
c.1189T>G (p.Ser397Ala)
c.1072T>G (p.Ser358Ala)
c.1054T>G (p.Ser352Ala)
3g.69964908C>ACA353559429MITFc.1175C>A (p.Ser392Tyr)
c.1172C>A (p.Ser391Tyr)
n.1397C>A
c.1148C>A (p.Ser383Tyr)
c.1114-6C>A (n.1114-6C>A)
c.1241C>A (p.Ser414Tyr)
c.920C>A (p.Ser307Tyr)
c.1220C>A (p.Ser407Tyr)
c.1223C>A (p.Ser408Tyr)
c.902C>A (p.Ser301Tyr)
c.1067C>A (p.Ser356Tyr)
c.*567C>A (n.*567C>A)
c.734C>A (p.Ser245Tyr)
c.1193C>A (p.Ser398Tyr)
c.1085C>A (p.Ser362Tyr)
c.1238C>A (p.Ser413Tyr)
c.1190C>A (p.Ser397Tyr)
c.1073C>A (p.Ser358Tyr)
c.1055C>A (p.Ser352Tyr)
 ClinVar
3g.69964908C=CA1373413950MITFc.1175C= (p.Ser392=)
c.1172C= (p.Ser391=)
n.1397C=
c.1148C= (p.Ser383=)
c.1114-6C= (n.1114-6C=)
c.1241C= (p.Ser414=)
c.920C= (p.Ser307=)
c.1220C= (p.Ser407=)
c.1223C= (p.Ser408=)
c.902C= (p.Ser301=)
c.1067C= (p.Ser356=)
c.*567C= (n.*567C=)
c.734C= (p.Ser245=)
c.1193C= (p.Ser398=)
c.1085C= (p.Ser362=)
c.1238C= (p.Ser413=)
c.1190C= (p.Ser397=)
c.1073C= (p.Ser358=)
c.1055C= (p.Ser352=)
3g.69964908C>GCA353559430MITFc.1175C>G (p.Ser392Cys)
c.1172C>G (p.Ser391Cys)
n.1397C>G
c.1148C>G (p.Ser383Cys)
c.1114-6C>G (n.1114-6C>G)
c.1241C>G (p.Ser414Cys)
c.920C>G (p.Ser307Cys)
c.1220C>G (p.Ser407Cys)
c.1223C>G (p.Ser408Cys)
c.902C>G (p.Ser301Cys)
c.1067C>G (p.Ser356Cys)
c.*567C>G (n.*567C>G)
c.734C>G (p.Ser245Cys)
c.1193C>G (p.Ser398Cys)
c.1085C>G (p.Ser362Cys)
c.1238C>G (p.Ser413Cys)
c.1190C>G (p.Ser397Cys)
c.1073C>G (p.Ser358Cys)
c.1055C>G (p.Ser352Cys)
 dbSNP gnomAD v4
3g.69964908C>TCA353559431MITFc.1175C>T (p.Ser392Phe)
c.1172C>T (p.Ser391Phe)
n.1397C>T
c.1148C>T (p.Ser383Phe)
c.1114-6C>T (n.1114-6C>T)
c.1241C>T (p.Ser414Phe)
c.920C>T (p.Ser307Phe)
c.1220C>T (p.Ser407Phe)
c.1223C>T (p.Ser408Phe)
c.902C>T (p.Ser301Phe)
c.1067C>T (p.Ser356Phe)
c.*567C>T (n.*567C>T)
c.734C>T (p.Ser245Phe)
c.1193C>T (p.Ser398Phe)
c.1085C>T (p.Ser362Phe)
c.1238C>T (p.Ser413Phe)
c.1190C>T (p.Ser397Phe)
c.1073C>T (p.Ser358Phe)
c.1055C>T (p.Ser352Phe)
3g.69964909T>ACA434433410MITFc.1176T>A (p.Ser392=)
c.1173T>A (p.Ser391=)
n.1398T>A
c.1149T>A (p.Ser383=)
c.1114-5T>A (n.1114-5T>A)
c.1242T>A (p.Ser414=)
c.921T>A (p.Ser307=)
c.1221T>A (p.Ser407=)
c.1224T>A (p.Ser408=)
c.903T>A (p.Ser301=)
c.1068T>A (p.Ser356=)
c.*568T>A (n.*568T>A)
c.735T>A (p.Ser245=)
c.1194T>A (p.Ser398=)
c.1086T>A (p.Ser362=)
c.1239T>A (p.Ser413=)
c.1191T>A (p.Ser397=)
c.1074T>A (p.Ser358=)
c.1056T>A (p.Ser352=)
3g.69964909T>CCA434433413MITFc.1176T>C (p.Ser392=)
c.1173T>C (p.Ser391=)
n.1398T>C
c.1149T>C (p.Ser383=)
c.1114-5T>C (n.1114-5T>C)
c.1242T>C (p.Ser414=)
c.921T>C (p.Ser307=)
c.1221T>C (p.Ser407=)
c.1224T>C (p.Ser408=)
c.903T>C (p.Ser301=)
c.1068T>C (p.Ser356=)
c.*568T>C (n.*568T>C)
c.735T>C (p.Ser245=)
c.1194T>C (p.Ser398=)
c.1086T>C (p.Ser362=)
c.1239T>C (p.Ser413=)
c.1191T>C (p.Ser397=)
c.1074T>C (p.Ser358=)
c.1056T>C (p.Ser352=)
3g.69964909T>GCA434433411MITFc.1176T>G (p.Ser392=)
c.1173T>G (p.Ser391=)
n.1398T>G
c.1149T>G (p.Ser383=)
c.1114-5T>G (n.1114-5T>G)
c.1242T>G (p.Ser414=)
c.921T>G (p.Ser307=)
c.1221T>G (p.Ser407=)
c.1224T>G (p.Ser408=)
c.903T>G (p.Ser301=)
c.1068T>G (p.Ser356=)
c.*568T>G (n.*568T>G)
c.735T>G (p.Ser245=)
c.1194T>G (p.Ser398=)
c.1086T>G (p.Ser362=)
c.1239T>G (p.Ser413=)
c.1191T>G (p.Ser397=)
c.1074T>G (p.Ser358=)
c.1056T>G (p.Ser352=)
 gnomAD v4
3g.69964910C>ACA353559434MITFc.1177C>A (p.Pro393Thr)
c.1174C>A (p.Pro392Thr)
n.1399C>A
c.1150C>A (p.Pro384Thr)
c.1114-4C>A (n.1114-4C>A)
c.1243C>A (p.Pro415Thr)
c.922C>A (p.Pro308Thr)
c.1222C>A (p.Pro408Thr)
c.1225C>A (p.Pro409Thr)
c.904C>A (p.Pro302Thr)
c.1069C>A (p.Pro357Thr)
c.*569C>A (n.*569C>A)
c.736C>A (p.Pro246Thr)
c.1195C>A (p.Pro399Thr)
c.1087C>A (p.Pro363Thr)
c.1240C>A (p.Pro414Thr)
c.1192C>A (p.Pro398Thr)
c.1075C>A (p.Pro359Thr)
c.1057C>A (p.Pro353Thr)
3g.69964910C=CA1373413955MITFc.1177C= (p.Pro393=)
c.1174C= (p.Pro392=)
n.1399C=
c.1150C= (p.Pro384=)
c.1114-4C= (n.1114-4C=)
c.1243C= (p.Pro415=)
c.922C= (p.Pro308=)
c.1222C= (p.Pro408=)
c.1225C= (p.Pro409=)
c.904C= (p.Pro302=)
c.1069C= (p.Pro357=)
c.*569C= (n.*569C=)
c.736C= (p.Pro246=)
c.1195C= (p.Pro399=)
c.1087C= (p.Pro363=)
c.1240C= (p.Pro414=)
c.1192C= (p.Pro398=)
c.1075C= (p.Pro359=)
c.1057C= (p.Pro353=)
3g.69964910C>GCA353559432MITFc.1177C>G (p.Pro393Ala)
c.1174C>G (p.Pro392Ala)
n.1399C>G
c.1150C>G (p.Pro384Ala)
c.1114-4C>G (n.1114-4C>G)
c.1243C>G (p.Pro415Ala)
c.922C>G (p.Pro308Ala)
c.1222C>G (p.Pro408Ala)
c.1225C>G (p.Pro409Ala)
c.904C>G (p.Pro302Ala)
c.1069C>G (p.Pro357Ala)
c.*569C>G (n.*569C>G)
c.736C>G (p.Pro246Ala)
c.1195C>G (p.Pro399Ala)
c.1087C>G (p.Pro363Ala)
c.1240C>G (p.Pro414Ala)
c.1192C>G (p.Pro398Ala)
c.1075C>G (p.Pro359Ala)
c.1057C>G (p.Pro353Ala)
3g.69964910C>TCA353559433MITFc.1177C>T (p.Pro393Ser)
c.1174C>T (p.Pro392Ser)
n.1399C>T
c.1150C>T (p.Pro384Ser)
c.1114-4C>T (n.1114-4C>T)
c.1243C>T (p.Pro415Ser)
c.922C>T (p.Pro308Ser)
c.1222C>T (p.Pro408Ser)
c.1225C>T (p.Pro409Ser)
c.904C>T (p.Pro302Ser)
c.1069C>T (p.Pro357Ser)
c.*569C>T (n.*569C>T)
c.736C>T (p.Pro246Ser)
c.1195C>T (p.Pro399Ser)
c.1087C>T (p.Pro363Ser)
c.1240C>T (p.Pro414Ser)
c.1192C>T (p.Pro398Ser)
c.1075C>T (p.Pro359Ser)
c.1057C>T (p.Pro353Ser)
 dbSNP gnomAD v4
3g.69964911C>ACA353559435MITFc.1178C>A (p.Pro393Gln)
c.1175C>A (p.Pro392Gln)
n.1400C>A
c.1151C>A (p.Pro384Gln)
c.1114-3C>A (n.1114-3C>A)
c.1244C>A (p.Pro415Gln)
c.923C>A (p.Pro308Gln)
c.1223C>A (p.Pro408Gln)
c.1226C>A (p.Pro409Gln)
c.905C>A (p.Pro302Gln)
c.1070C>A (p.Pro357Gln)
c.*570C>A (n.*570C>A)
c.737C>A (p.Pro246Gln)
c.1196C>A (p.Pro399Gln)
c.1088C>A (p.Pro363Gln)
c.1241C>A (p.Pro414Gln)
c.1193C>A (p.Pro398Gln)
c.1076C>A (p.Pro359Gln)
c.1058C>A (p.Pro353Gln)
3g.69964911C>GCA353559436MITFc.1178C>G (p.Pro393Arg)
c.1175C>G (p.Pro392Arg)
n.1400C>G
c.1151C>G (p.Pro384Arg)
c.1114-3C>G (n.1114-3C>G)
c.1244C>G (p.Pro415Arg)
c.923C>G (p.Pro308Arg)
c.1223C>G (p.Pro408Arg)
c.1226C>G (p.Pro409Arg)
c.905C>G (p.Pro302Arg)
c.1070C>G (p.Pro357Arg)
c.*570C>G (n.*570C>G)
c.737C>G (p.Pro246Arg)
c.1196C>G (p.Pro399Arg)
c.1088C>G (p.Pro363Arg)
c.1241C>G (p.Pro414Arg)
c.1193C>G (p.Pro398Arg)
c.1076C>G (p.Pro359Arg)
c.1058C>G (p.Pro353Arg)
3g.69964911C>TCA353559437MITFc.1178C>T (p.Pro393Leu)
c.1175C>T (p.Pro392Leu)
n.1400C>T
c.1151C>T (p.Pro384Leu)
c.1114-3C>T (n.1114-3C>T)
c.1244C>T (p.Pro415Leu)
c.923C>T (p.Pro308Leu)
c.1223C>T (p.Pro408Leu)
c.1226C>T (p.Pro409Leu)
c.905C>T (p.Pro302Leu)
c.1070C>T (p.Pro357Leu)
c.*570C>T (n.*570C>T)
c.737C>T (p.Pro246Leu)
c.1196C>T (p.Pro399Leu)
c.1088C>T (p.Pro363Leu)
c.1241C>T (p.Pro414Leu)
c.1193C>T (p.Pro398Leu)
c.1076C>T (p.Pro359Leu)
c.1058C>T (p.Pro353Leu)
 ClinVar dbSNP gnomAD v4
3g.69964912A>CCA434433416MITFc.1179A>C (p.Pro393=)
c.1176A>C (p.Pro392=)
n.1401A>C
c.1152A>C (p.Pro384=)
c.1114-2A>C (n.1114-2A>C)
c.1245A>C (p.Pro415=)
c.924A>C (p.Pro308=)
c.1224A>C (p.Pro408=)
c.1227A>C (p.Pro409=)
c.906A>C (p.Pro302=)
c.1071A>C (p.Pro357=)
c.*571A>C (n.*571A>C)
c.738A>C (p.Pro246=)
c.1197A>C (p.Pro399=)
c.1089A>C (p.Pro363=)
c.1242A>C (p.Pro414=)
c.1194A>C (p.Pro398=)
c.1077A>C (p.Pro359=)
c.1059A>C (p.Pro353=)
3g.69964912A>GCA434433417MITFc.1179A>G (p.Pro393=)
c.1176A>G (p.Pro392=)
n.1401A>G
c.1152A>G (p.Pro384=)
c.1114-2A>G (n.1114-2A>G)
c.1245A>G (p.Pro415=)
c.924A>G (p.Pro308=)
c.1224A>G (p.Pro408=)
c.1227A>G (p.Pro409=)
c.906A>G (p.Pro302=)
c.1071A>G (p.Pro357=)
c.*571A>G (n.*571A>G)
c.738A>G (p.Pro246=)
c.1197A>G (p.Pro399=)
c.1089A>G (p.Pro363=)
c.1242A>G (p.Pro414=)
c.1194A>G (p.Pro398=)
c.1077A>G (p.Pro359=)
c.1059A>G (p.Pro353=)
3g.69964912A>TCA434433418MITFc.1179A>T (p.Pro393=)
c.1176A>T (p.Pro392=)
n.1401A>T
c.1152A>T (p.Pro384=)
c.1114-2A>T (n.1114-2A>T)
c.1245A>T (p.Pro415=)
c.924A>T (p.Pro308=)
c.1224A>T (p.Pro408=)
c.1227A>T (p.Pro409=)
c.906A>T (p.Pro302=)
c.1071A>T (p.Pro357=)
c.*571A>T (n.*571A>T)
c.738A>T (p.Pro246=)
c.1197A>T (p.Pro399=)
c.1089A>T (p.Pro363=)
c.1242A>T (p.Pro414=)
c.1194A>T (p.Pro398=)
c.1077A>T (p.Pro359=)
c.1059A>T (p.Pro353=)
 gnomAD v4
3g.69964913G>ACA353559438MITFc.1180G>A (p.Asp394Asn)
c.1177G>A (p.Asp393Asn)
n.1402G>A
c.1153G>A (p.Asp385Asn)
c.1114-1G>A (n.1114-1G>A)
c.1246G>A (p.Asp416Asn)
c.925G>A (p.Asp309Asn)
c.1225G>A (p.Asp409Asn)
c.1228G>A (p.Asp410Asn)
c.907G>A (p.Asp303Asn)
c.1072G>A (p.Asp358Asn)
c.*572G>A (n.*572G>A)
c.739G>A (p.Asp247Asn)
c.1198G>A (p.Asp400Asn)
c.1090G>A (p.Asp364Asn)
c.1243G>A (p.Asp415Asn)
c.1195G>A (p.Asp399Asn)
c.1078G>A (p.Asp360Asn)
c.1060G>A (p.Asp354Asn)
3g.69964913G>CCA353559439MITFc.1180G>C (p.Asp394His)
c.1177G>C (p.Asp393His)
n.1402G>C
c.1153G>C (p.Asp385His)
c.1114-1G>C (n.1114-1G>C)
c.1246G>C (p.Asp416His)
c.925G>C (p.Asp309His)
c.1225G>C (p.Asp409His)
c.1228G>C (p.Asp410His)
c.907G>C (p.Asp303His)
c.1072G>C (p.Asp358His)
c.*572G>C (n.*572G>C)
c.739G>C (p.Asp247His)
c.1198G>C (p.Asp400His)
c.1090G>C (p.Asp364His)
c.1243G>C (p.Asp415His)
c.1195G>C (p.Asp399His)
c.1078G>C (p.Asp360His)
c.1060G>C (p.Asp354His)
3g.69964913G>TCA353559440MITFc.1180G>T (p.Asp394Tyr)
c.1177G>T (p.Asp393Tyr)
n.1402G>T
c.1153G>T (p.Asp385Tyr)
c.1114-1G>T (n.1114-1G>T)
c.1246G>T (p.Asp416Tyr)
c.925G>T (p.Asp309Tyr)
c.1225G>T (p.Asp409Tyr)
c.1228G>T (p.Asp410Tyr)
c.907G>T (p.Asp303Tyr)
c.1072G>T (p.Asp358Tyr)
c.*572G>T (n.*572G>T)
c.739G>T (p.Asp247Tyr)
c.1198G>T (p.Asp400Tyr)
c.1090G>T (p.Asp364Tyr)
c.1243G>T (p.Asp415Tyr)
c.1195G>T (p.Asp399Tyr)
c.1078G>T (p.Asp360Tyr)
c.1060G>T (p.Asp354Tyr)
3g.69964914A>CCA353559441MITFc.1181A>C (p.Asp394Ala)
c.1178A>C (p.Asp393Ala)
n.1403A>C
c.1154A>C (p.Asp385Ala)
c.1114A>C (p.Ile372Leu)
c.1247A>C (p.Asp416Ala)
c.926A>C (p.Asp309Ala)
c.1226A>C (p.Asp409Ala)
c.1229A>C (p.Asp410Ala)
c.908A>C (p.Asp303Ala)
c.1073A>C (p.Asp358Ala)
c.*573A>C (n.*573A>C)
c.740A>C (p.Asp247Ala)
c.1199A>C (p.Asp400Ala)
c.1091A>C (p.Asp364Ala)
c.1244A>C (p.Asp415Ala)
c.1196A>C (p.Asp399Ala)
c.1079A>C (p.Asp360Ala)
c.1061A>C (p.Asp354Ala)
3g.69964914A>GCA353559443MITFc.1181A>G (p.Asp394Gly)
c.1178A>G (p.Asp393Gly)
n.1403A>G
c.1154A>G (p.Asp385Gly)
c.1114A>G (p.Ile372Val)
c.1247A>G (p.Asp416Gly)
c.926A>G (p.Asp309Gly)
c.1226A>G (p.Asp409Gly)
c.1229A>G (p.Asp410Gly)
c.908A>G (p.Asp303Gly)
c.1073A>G (p.Asp358Gly)
c.*573A>G (n.*573A>G)
c.740A>G (p.Asp247Gly)
c.1199A>G (p.Asp400Gly)
c.1091A>G (p.Asp364Gly)
c.1244A>G (p.Asp415Gly)
c.1196A>G (p.Asp399Gly)
c.1079A>G (p.Asp360Gly)
c.1061A>G (p.Asp354Gly)
3g.69964914A>TCA353559442MITFc.1181A>T (p.Asp394Val)
c.1178A>T (p.Asp393Val)
n.1403A>T
c.1154A>T (p.Asp385Val)
c.1114A>T (p.Ile372Phe)
c.1247A>T (p.Asp416Val)
c.926A>T (p.Asp309Val)
c.1226A>T (p.Asp409Val)
c.1229A>T (p.Asp410Val)
c.908A>T (p.Asp303Val)
c.1073A>T (p.Asp358Val)
c.*573A>T (n.*573A>T)
c.740A>T (p.Asp247Val)
c.1199A>T (p.Asp400Val)
c.1091A>T (p.Asp364Val)
c.1244A>T (p.Asp415Val)
c.1196A>T (p.Asp399Val)
c.1079A>T (p.Asp360Val)
c.1061A>T (p.Asp354Val)
 gnomAD v4
3g.69964915T>ACA353559444MITFc.1182T>A (p.Asp394Glu)
c.1179T>A (p.Asp393Glu)
n.1404T>A
c.1155T>A (p.Asp385Glu)
c.1115T>A (p.Ile372Asn)
c.1248T>A (p.Asp416Glu)
c.927T>A (p.Asp309Glu)
c.1227T>A (p.Asp409Glu)
c.1230T>A (p.Asp410Glu)
c.909T>A (p.Asp303Glu)
c.1074T>A (p.Asp358Glu)
c.*574T>A (n.*574T>A)
c.741T>A (p.Asp247Glu)
c.1200T>A (p.Asp400Glu)
c.1092T>A (p.Asp364Glu)
c.1245T>A (p.Asp415Glu)
c.1197T>A (p.Asp399Glu)
c.1080T>A (p.Asp360Glu)
c.1062T>A (p.Asp354Glu)
3g.69964915T>CCA434433421MITFc.1182T>C (p.Asp394=)
c.1179T>C (p.Asp393=)
n.1404T>C
c.1155T>C (p.Asp385=)
c.1115T>C (p.Ile372Thr)
c.1248T>C (p.Asp416=)
c.927T>C (p.Asp309=)
c.1227T>C (p.Asp409=)
c.1230T>C (p.Asp410=)
c.909T>C (p.Asp303=)
c.1074T>C (p.Asp358=)
c.*574T>C (n.*574T>C)
c.741T>C (p.Asp247=)
c.1200T>C (p.Asp400=)
c.1092T>C (p.Asp364=)
c.1245T>C (p.Asp415=)
c.1197T>C (p.Asp399=)
c.1080T>C (p.Asp360=)
c.1062T>C (p.Asp354=)
 gnomAD v4
3g.69964915T>GCA353559445MITFc.1182T>G (p.Asp394Glu)
c.1179T>G (p.Asp393Glu)
n.1404T>G
c.1155T>G (p.Asp385Glu)
c.1115T>G (p.Ile372Ser)
c.1248T>G (p.Asp416Glu)
c.927T>G (p.Asp309Glu)
c.1227T>G (p.Asp409Glu)
c.1230T>G (p.Asp410Glu)
c.909T>G (p.Asp303Glu)
c.1074T>G (p.Asp358Glu)
c.*574T>G (n.*574T>G)
c.741T>G (p.Asp247Glu)
c.1200T>G (p.Asp400Glu)
c.1092T>G (p.Asp364Glu)
c.1245T>G (p.Asp415Glu)
c.1197T>G (p.Asp399Glu)
c.1080T>G (p.Asp360Glu)
c.1062T>G (p.Asp354Glu)
3g.69964916T>ACA353559446MITFc.1183T>A (p.Leu395Met)
c.1180T>A (p.Leu394Met)
n.1405T>A
c.1156T>A (p.Leu386Met)
c.1116T>A (p.Ile372=)
c.1249T>A (p.Leu417Met)
c.928T>A (p.Leu310Met)
c.1228T>A (p.Leu410Met)
c.1231T>A (p.Leu411Met)
c.910T>A (p.Leu304Met)
c.1075T>A (p.Leu359Met)
c.*575T>A (n.*575T>A)
c.742T>A (p.Leu248Met)
c.1201T>A (p.Leu401Met)
c.1093T>A (p.Leu365Met)
c.1246T>A (p.Leu416Met)
c.1198T>A (p.Leu400Met)
c.1081T>A (p.Leu361Met)
c.1063T>A (p.Leu355Met)
3g.69964916T>CCA434433424MITFc.1183T>C (p.Leu395=)
c.1180T>C (p.Leu394=)
n.1405T>C
c.1156T>C (p.Leu386=)
c.1116T>C (p.Ile372=)
c.1249T>C (p.Leu417=)
c.928T>C (p.Leu310=)
c.1228T>C (p.Leu410=)
c.1231T>C (p.Leu411=)
c.910T>C (p.Leu304=)
c.1075T>C (p.Leu359=)
c.*575T>C (n.*575T>C)
c.742T>C (p.Leu248=)
c.1201T>C (p.Leu401=)
c.1093T>C (p.Leu365=)
c.1246T>C (p.Leu416=)
c.1198T>C (p.Leu400=)
c.1081T>C (p.Leu361=)
c.1063T>C (p.Leu355=)
3g.69964916T>GCA353559447MITFc.1183T>G (p.Leu395Val)
c.1180T>G (p.Leu394Val)
n.1405T>G
c.1156T>G (p.Leu386Val)
c.1116T>G (p.Ile372Met)
c.1249T>G (p.Leu417Val)
c.928T>G (p.Leu310Val)
c.1228T>G (p.Leu410Val)
c.1231T>G (p.Leu411Val)
c.910T>G (p.Leu304Val)
c.1075T>G (p.Leu359Val)
c.*575T>G (n.*575T>G)
c.742T>G (p.Leu248Val)
c.1201T>G (p.Leu401Val)
c.1093T>G (p.Leu365Val)
c.1246T>G (p.Leu416Val)
c.1198T>G (p.Leu400Val)
c.1081T>G (p.Leu361Val)
c.1063T>G (p.Leu355Val)
 dbSNP
3g.69964916T=CA1373413958MITFc.1183T= (p.Leu395=)
c.1180T= (p.Leu394=)
n.1405T=
c.1156T= (p.Leu386=)
c.1116T= (p.Ile372=)
c.1249T= (p.Leu417=)
c.928T= (p.Leu310=)
c.1228T= (p.Leu410=)
c.1231T= (p.Leu411=)
c.910T= (p.Leu304=)
c.1075T= (p.Leu359=)
c.*575T= (n.*575T=)
c.742T= (p.Leu248=)
c.1201T= (p.Leu401=)
c.1093T= (p.Leu365=)
c.1246T= (p.Leu416=)
c.1198T= (p.Leu400=)
c.1081T= (p.Leu361=)
c.1063T= (p.Leu355=)
3g.69964917T>ACA353559448MITFc.1184T>A (p.Leu395Ter)
c.1181T>A (p.Leu394Ter)
n.1406T>A
c.1157T>A (p.Leu386Ter)
c.1117T>A (p.Trp373Arg)
c.1250T>A (p.Leu417Ter)
c.929T>A (p.Leu310Ter)
c.1229T>A (p.Leu410Ter)
c.1232T>A (p.Leu411Ter)
c.911T>A (p.Leu304Ter)
c.1076T>A (p.Leu359Ter)
c.*576T>A (n.*576T>A)
c.743T>A (p.Leu248Ter)
c.1202T>A (p.Leu401Ter)
c.1094T>A (p.Leu365Ter)
c.1247T>A (p.Leu416Ter)
c.1199T>A (p.Leu400Ter)
c.1082T>A (p.Leu361Ter)
c.1064T>A (p.Leu355Ter)
3g.69964917T>CCA353559449MITFc.1184T>C (p.Leu395Ser)
c.1181T>C (p.Leu394Ser)
n.1406T>C
c.1157T>C (p.Leu386Ser)
c.1117T>C (p.Trp373Arg)
c.1250T>C (p.Leu417Ser)
c.929T>C (p.Leu310Ser)
c.1229T>C (p.Leu410Ser)
c.1232T>C (p.Leu411Ser)
c.911T>C (p.Leu304Ser)
c.1076T>C (p.Leu359Ser)
c.*576T>C (n.*576T>C)
c.743T>C (p.Leu248Ser)
c.1202T>C (p.Leu401Ser)
c.1094T>C (p.Leu365Ser)
c.1247T>C (p.Leu416Ser)
c.1199T>C (p.Leu400Ser)
c.1082T>C (p.Leu361Ser)
c.1064T>C (p.Leu355Ser)
3g.69964917T>GCA353559450MITFc.1184T>G (p.Leu395Trp)
c.1181T>G (p.Leu394Trp)
n.1406T>G
c.1157T>G (p.Leu386Trp)
c.1117T>G (p.Trp373Gly)
c.1250T>G (p.Leu417Trp)
c.929T>G (p.Leu310Trp)
c.1229T>G (p.Leu410Trp)
c.1232T>G (p.Leu411Trp)
c.911T>G (p.Leu304Trp)
c.1076T>G (p.Leu359Trp)
c.*576T>G (n.*576T>G)
c.743T>G (p.Leu248Trp)
c.1202T>G (p.Leu401Trp)
c.1094T>G (p.Leu365Trp)
c.1247T>G (p.Leu416Trp)
c.1199T>G (p.Leu400Trp)
c.1082T>G (p.Leu361Trp)
c.1064T>G (p.Leu355Trp)
3g.69964918G>ACA434433426MITFc.1185G>A (p.Leu395=)
c.1182G>A (p.Leu394=)
n.1407G>A
c.1158G>A (p.Leu386=)
c.1118G>A (p.Trp373Ter)
c.1251G>A (p.Leu417=)
c.930G>A (p.Leu310=)
c.1230G>A (p.Leu410=)
c.1233G>A (p.Leu411=)
c.912G>A (p.Leu304=)
c.1077G>A (p.Leu359=)
c.*577G>A (n.*577G>A)
c.744G>A (p.Leu248=)
c.1203G>A (p.Leu401=)
c.1095G>A (p.Leu365=)
c.1248G>A (p.Leu416=)
c.1200G>A (p.Leu400=)
c.1083G>A (p.Leu361=)
c.1065G>A (p.Leu355=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964918G>CCA353559451MITFc.1185G>C (p.Leu395Phe)
c.1182G>C (p.Leu394Phe)
n.1407G>C
c.1158G>C (p.Leu386Phe)
c.1118G>C (p.Trp373Ser)
c.1251G>C (p.Leu417Phe)
c.930G>C (p.Leu310Phe)
c.1230G>C (p.Leu410Phe)
c.1233G>C (p.Leu411Phe)
c.912G>C (p.Leu304Phe)
c.1077G>C (p.Leu359Phe)
c.*577G>C (n.*577G>C)
c.744G>C (p.Leu248Phe)
c.1203G>C (p.Leu401Phe)
c.1095G>C (p.Leu365Phe)
c.1248G>C (p.Leu416Phe)
c.1200G>C (p.Leu400Phe)
c.1083G>C (p.Leu361Phe)
c.1065G>C (p.Leu355Phe)
3g.69964918G=CA1373413964MITFc.1185G= (p.Leu395=)
c.1182G= (p.Leu394=)
n.1407G=
c.1158G= (p.Leu386=)
c.1118G= (p.Trp373=)
c.1251G= (p.Leu417=)
c.930G= (p.Leu310=)
c.1230G= (p.Leu410=)
c.1233G= (p.Leu411=)
c.912G= (p.Leu304=)
c.1077G= (p.Leu359=)
c.*577G= (n.*577G=)
c.744G= (p.Leu248=)
c.1203G= (p.Leu401=)
c.1095G= (p.Leu365=)
c.1248G= (p.Leu416=)
c.1200G= (p.Leu400=)
c.1083G= (p.Leu361=)
c.1065G= (p.Leu355=)
3g.69964918G>TCA353559452MITFc.1185G>T (p.Leu395Phe)
c.1182G>T (p.Leu394Phe)
n.1407G>T
c.1158G>T (p.Leu386Phe)
c.1118G>T (p.Trp373Leu)
c.1251G>T (p.Leu417Phe)
c.930G>T (p.Leu310Phe)
c.1230G>T (p.Leu410Phe)
c.1233G>T (p.Leu411Phe)
c.912G>T (p.Leu304Phe)
c.1077G>T (p.Leu359Phe)
c.*577G>T (n.*577G>T)
c.744G>T (p.Leu248Phe)
c.1203G>T (p.Leu401Phe)
c.1095G>T (p.Leu365Phe)
c.1248G>T (p.Leu416Phe)
c.1200G>T (p.Leu400Phe)
c.1083G>T (p.Leu361Phe)
c.1065G>T (p.Leu355Phe)
3g.69964919G>ACA353559453MITFc.1186G>A (p.Val396Met)
c.1183G>A (p.Val395Met)
n.1408G>A
c.1159G>A (p.Val387Met)
c.1119G>A (p.Trp373Ter)
c.1252G>A (p.Val418Met)
c.931G>A (p.Val311Met)
c.1231G>A (p.Val411Met)
c.1234G>A (p.Val412Met)
c.913G>A (p.Val305Met)
c.1078G>A (p.Val360Met)
c.*578G>A (n.*578G>A)
c.745G>A (p.Val249Met)
c.1204G>A (p.Val402Met)
c.1096G>A (p.Val366Met)
c.1249G>A (p.Val417Met)
c.1201G>A (p.Val401Met)
c.1084G>A (p.Val362Met)
c.1066G>A (p.Val356Met)
 gnomAD v4
3g.69964919G>CCA353559454MITFc.1186G>C (p.Val396Leu)
c.1183G>C (p.Val395Leu)
n.1408G>C
c.1159G>C (p.Val387Leu)
c.1119G>C (p.Trp373Cys)
c.1252G>C (p.Val418Leu)
c.931G>C (p.Val311Leu)
c.1231G>C (p.Val411Leu)
c.1234G>C (p.Val412Leu)
c.913G>C (p.Val305Leu)
c.1078G>C (p.Val360Leu)
c.*578G>C (n.*578G>C)
c.745G>C (p.Val249Leu)
c.1204G>C (p.Val402Leu)
c.1096G>C (p.Val366Leu)
c.1249G>C (p.Val417Leu)
c.1201G>C (p.Val401Leu)
c.1084G>C (p.Val362Leu)
c.1066G>C (p.Val356Leu)
3g.69964919G>TCA353559455MITFc.1186G>T (p.Val396Leu)
c.1183G>T (p.Val395Leu)
n.1408G>T
c.1159G>T (p.Val387Leu)
c.1119G>T (p.Trp373Cys)
c.1252G>T (p.Val418Leu)
c.931G>T (p.Val311Leu)
c.1231G>T (p.Val411Leu)
c.1234G>T (p.Val412Leu)
c.913G>T (p.Val305Leu)
c.1078G>T (p.Val360Leu)
c.*578G>T (n.*578G>T)
c.745G>T (p.Val249Leu)
c.1204G>T (p.Val402Leu)
c.1096G>T (p.Val366Leu)
c.1249G>T (p.Val417Leu)
c.1201G>T (p.Val401Leu)
c.1084G>T (p.Val362Leu)
c.1066G>T (p.Val356Leu)
3g.69964920T>ACA353559456MITFc.1187T>A (p.Val396Glu)
c.1184T>A (p.Val395Glu)
n.1409T>A
c.1160T>A (p.Val387Glu)
c.1120T>A (p.Ter374Arg)
c.1253T>A (p.Val418Glu)
c.932T>A (p.Val311Glu)
c.1232T>A (p.Val411Glu)
c.1235T>A (p.Val412Glu)
c.914T>A (p.Val305Glu)
c.1079T>A (p.Val360Glu)
c.*579T>A (n.*579T>A)
c.746T>A (p.Val249Glu)
c.1205T>A (p.Val402Glu)
c.1097T>A (p.Val366Glu)
c.1250T>A (p.Val417Glu)
c.1202T>A (p.Val401Glu)
c.1085T>A (p.Val362Glu)
c.1067T>A (p.Val356Glu)
3g.69964920T>CCA353559458MITFc.1187T>C (p.Val396Ala)
c.1184T>C (p.Val395Ala)
n.1409T>C
c.1160T>C (p.Val387Ala)
c.1120T>C (p.Ter374Arg)
c.1253T>C (p.Val418Ala)
c.932T>C (p.Val311Ala)
c.1232T>C (p.Val411Ala)
c.1235T>C (p.Val412Ala)
c.914T>C (p.Val305Ala)
c.1079T>C (p.Val360Ala)
c.*579T>C (n.*579T>C)
c.746T>C (p.Val249Ala)
c.1205T>C (p.Val402Ala)
c.1097T>C (p.Val366Ala)
c.1250T>C (p.Val417Ala)
c.1202T>C (p.Val401Ala)
c.1085T>C (p.Val362Ala)
c.1067T>C (p.Val356Ala)
 ClinVar
3g.69964920T>GCA353559457MITFc.1187T>G (p.Val396Gly)
c.1184T>G (p.Val395Gly)
n.1409T>G
c.1160T>G (p.Val387Gly)
c.1120T>G (p.Ter374Gly)
c.1253T>G (p.Val418Gly)
c.932T>G (p.Val311Gly)
c.1232T>G (p.Val411Gly)
c.1235T>G (p.Val412Gly)
c.914T>G (p.Val305Gly)
c.1079T>G (p.Val360Gly)
c.*579T>G (n.*579T>G)
c.746T>G (p.Val249Gly)
c.1205T>G (p.Val402Gly)
c.1097T>G (p.Val366Gly)
c.1250T>G (p.Val417Gly)
c.1202T>G (p.Val401Gly)
c.1085T>G (p.Val362Gly)
c.1067T>G (p.Val356Gly)
3g.69964920_69964923delinsTGAACA1373413966MITFc.1187_1190delinsTGAA (p.Val396=)
c.1184_1187delinsTGAA (p.Val395=)
n.1409_1412delinsTGAA
c.1160_1163delinsTGAA (p.Val387=)
c.1120_*1delinsTGAA (n.[c.1120_*1delinsTGAA;Ter374=])
c.1253_1256delinsTGAA (p.Val418=)
c.932_935delinsTGAA (p.Val311=)
c.1232_1235delinsTGAA (p.Val411=)
c.1235_1238delinsTGAA (p.Val412=)
c.914_917delinsTGAA (p.Val305=)
c.1079_1082delinsTGAA (p.Val360=)
c.*579_*582delinsTGAA (n.*579_*582delinsTGAA)
c.746_749delinsTGAA (p.Val249=)
c.1205_1208delinsTGAA (p.Val402=)
c.1097_1100delinsTGAA (p.Val366=)
c.1250_1253delinsTGAA (p.Val417=)
c.1202_1205delinsTGAA (p.Val401=)
c.1085_1088delinsTGAA (p.Val362=)
c.1067_1070delinsTGAA (p.Val356=)
3g.69964921G>ACA434433428MITFc.1188G>A (p.Val396=)
c.1185G>A (p.Val395=)
n.1410G>A
c.1161G>A (p.Val387=)
c.1121G>A (p.Ter374=)
c.1254G>A (p.Val418=)
c.933G>A (p.Val311=)
c.1233G>A (p.Val411=)
c.1236G>A (p.Val412=)
c.915G>A (p.Val305=)
c.1080G>A (p.Val360=)
c.*580G>A (n.*580G>A)
c.747G>A (p.Val249=)
c.1206G>A (p.Val402=)
c.1098G>A (p.Val366=)
c.1251G>A (p.Val417=)
c.1203G>A (p.Val401=)
c.1086G>A (p.Val362=)
c.1068G>A (p.Val356=)
 dbSNP
3g.69964921G>CCA434433429MITFc.1188G>C (p.Val396=)
c.1185G>C (p.Val395=)
n.1410G>C
c.1161G>C (p.Val387=)
c.1121G>C (p.Ter374Ser)
c.1254G>C (p.Val418=)
c.933G>C (p.Val311=)
c.1233G>C (p.Val411=)
c.1236G>C (p.Val412=)
c.915G>C (p.Val305=)
c.1080G>C (p.Val360=)
c.*580G>C (n.*580G>C)
c.747G>C (p.Val249=)
c.1206G>C (p.Val402=)
c.1098G>C (p.Val366=)
c.1251G>C (p.Val417=)
c.1203G>C (p.Val401=)
c.1086G>C (p.Val362=)
c.1068G>C (p.Val356=)
3g.69964921G=CA1373413968MITFc.1188G= (p.Val396=)
c.1185G= (p.Val395=)
n.1410G=
c.1161G= (p.Val387=)
c.1121G= (p.Ter374=)
c.1254G= (p.Val418=)
c.933G= (p.Val311=)
c.1233G= (p.Val411=)
c.1236G= (p.Val412=)
c.915G= (p.Val305=)
c.1080G= (p.Val360=)
c.*580G= (n.*580G=)
c.747G= (p.Val249=)
c.1206G= (p.Val402=)
c.1098G= (p.Val366=)
c.1251G= (p.Val417=)
c.1203G= (p.Val401=)
c.1086G= (p.Val362=)
c.1068G= (p.Val356=)
3g.69964921G>TCA434433430MITFc.1188G>T (p.Val396=)
c.1185G>T (p.Val395=)
n.1410G>T
c.1161G>T (p.Val387=)
c.1121G>T (p.Ter374Leu)
c.1254G>T (p.Val418=)
c.933G>T (p.Val311=)
c.1233G>T (p.Val411=)
c.1236G>T (p.Val412=)
c.915G>T (p.Val305=)
c.1080G>T (p.Val360=)
c.*580G>T (n.*580G>T)
c.747G>T (p.Val249=)
c.1206G>T (p.Val402=)
c.1098G>T (p.Val366=)
c.1251G>T (p.Val417=)
c.1203G>T (p.Val401=)
c.1086G>T (p.Val362=)
c.1068G>T (p.Val356=)
3g.69964921_69964923delCA544006178MITFc.1188_1190del (p.Asn397del)
c.1185_1187del (p.Asn396del)
n.1410_1412del
c.1161_1163del (p.Asn388del)
c.1121_*1del (n.[c.1121_*1del;Ter374PheextTer24])
c.1254_1256del (p.Asn419del)
c.933_935del (p.Asn312del)
c.1233_1235del (p.Asn412del)
c.1236_1238del (p.Asn413del)
c.915_917del (p.Asn306del)
c.1080_1082del (p.Asn361del)
c.*580_*582del (n.*580_*582del)
c.747_749del (p.Asn250del)
c.1206_1208del (p.Asn403del)
c.1098_1100del (p.Asn367del)
c.1251_1253del (p.Asn418del)
c.1203_1205del (p.Asn402del)
c.1086_1088del (p.Asn363del)
c.1068_1070del (p.Asn357del)
 dbSNP gnomAD v2 gnomAD v4
3g.69964922A>CCA353559459MITFc.1189A>C (p.Asn397His)
c.1186A>C (p.Asn396His)
n.1411A>C
c.1162A>C (p.Asn388His)
c.1122A>C (p.Ter374Cys)
c.1255A>C (p.Asn419His)
c.934A>C (p.Asn312His)
c.1234A>C (p.Asn412His)
c.1237A>C (p.Asn413His)
c.916A>C (p.Asn306His)
c.1081A>C (p.Asn361His)
c.*581A>C (n.*581A>C)
c.748A>C (p.Asn250His)
c.1207A>C (p.Asn403His)
c.1099A>C (p.Asn367His)
c.1252A>C (p.Asn418His)
c.1204A>C (p.Asn402His)
c.1087A>C (p.Asn363His)
c.1069A>C (p.Asn357His)
3g.69964922A>GCA353559460MITFc.1189A>G (p.Asn397Asp)
c.1186A>G (p.Asn396Asp)
n.1411A>G
c.1162A>G (p.Asn388Asp)
c.1122A>G (p.Ter374Trp)
c.1255A>G (p.Asn419Asp)
c.934A>G (p.Asn312Asp)
c.1234A>G (p.Asn412Asp)
c.1237A>G (p.Asn413Asp)
c.916A>G (p.Asn306Asp)
c.1081A>G (p.Asn361Asp)
c.*581A>G (n.*581A>G)
c.748A>G (p.Asn250Asp)
c.1207A>G (p.Asn403Asp)
c.1099A>G (p.Asn367Asp)
c.1252A>G (p.Asn418Asp)
c.1204A>G (p.Asn402Asp)
c.1087A>G (p.Asn363Asp)
c.1069A>G (p.Asn357Asp)
3g.69964922A>TCA353559461MITFc.1189A>T (p.Asn397Tyr)
c.1186A>T (p.Asn396Tyr)
n.1411A>T
c.1162A>T (p.Asn388Tyr)
c.1122A>T (p.Ter374Cys)
c.1255A>T (p.Asn419Tyr)
c.934A>T (p.Asn312Tyr)
c.1234A>T (p.Asn412Tyr)
c.1237A>T (p.Asn413Tyr)
c.916A>T (p.Asn306Tyr)
c.1081A>T (p.Asn361Tyr)
c.*581A>T (n.*581A>T)
c.748A>T (p.Asn250Tyr)
c.1207A>T (p.Asn403Tyr)
c.1099A>T (p.Asn367Tyr)
c.1252A>T (p.Asn418Tyr)
c.1204A>T (p.Asn402Tyr)
c.1087A>T (p.Asn363Tyr)
c.1069A>T (p.Asn357Tyr)
3g.69964923A>CCA353559462MITFc.1190A>C (p.Asn397Thr)
c.1187A>C (p.Asn396Thr)
n.1412A>C
c.1163A>C (p.Asn388Thr)
c.*1A>C (n.*1A>C)
c.1256A>C (p.Asn419Thr)
c.935A>C (p.Asn312Thr)
c.1235A>C (p.Asn412Thr)
c.1238A>C (p.Asn413Thr)
c.917A>C (p.Asn306Thr)
c.1082A>C (p.Asn361Thr)
c.*582A>C (n.*582A>C)
c.749A>C (p.Asn250Thr)
c.1208A>C (p.Asn403Thr)
c.1100A>C (p.Asn367Thr)
c.1253A>C (p.Asn418Thr)
c.1205A>C (p.Asn402Thr)
c.1088A>C (p.Asn363Thr)
c.1070A>C (p.Asn357Thr)
3g.69964923A>GCA353559463MITFc.1190A>G (p.Asn397Ser)
c.1187A>G (p.Asn396Ser)
n.1412A>G
c.1163A>G (p.Asn388Ser)
c.*1A>G (n.*1A>G)
c.1256A>G (p.Asn419Ser)
c.935A>G (p.Asn312Ser)
c.1235A>G (p.Asn412Ser)
c.1238A>G (p.Asn413Ser)
c.917A>G (p.Asn306Ser)
c.1082A>G (p.Asn361Ser)
c.*582A>G (n.*582A>G)
c.749A>G (p.Asn250Ser)
c.1208A>G (p.Asn403Ser)
c.1100A>G (p.Asn367Ser)
c.1253A>G (p.Asn418Ser)
c.1205A>G (p.Asn402Ser)
c.1088A>G (p.Asn363Ser)
c.1070A>G (p.Asn357Ser)
 dbSNP
3g.69964923A>TCA353559464MITFc.1190A>T (p.Asn397Ile)
c.1187A>T (p.Asn396Ile)
n.1412A>T
c.1163A>T (p.Asn388Ile)
c.*1A>T (n.*1A>T)
c.1256A>T (p.Asn419Ile)
c.935A>T (p.Asn312Ile)
c.1235A>T (p.Asn412Ile)
c.1238A>T (p.Asn413Ile)
c.917A>T (p.Asn306Ile)
c.1082A>T (p.Asn361Ile)
c.*582A>T (n.*582A>T)
c.749A>T (p.Asn250Ile)
c.1208A>T (p.Asn403Ile)
c.1100A>T (p.Asn367Ile)
c.1253A>T (p.Asn418Ile)
c.1205A>T (p.Asn402Ile)
c.1088A>T (p.Asn363Ile)
c.1070A>T (p.Asn357Ile)
3g.69964924T>ACA353559465MITFc.1191T>A (p.Asn397Lys)
c.1188T>A (p.Asn396Lys)
n.1413T>A
c.1164T>A (p.Asn388Lys)
c.*2T>A (n.*2T>A)
c.1257T>A (p.Asn419Lys)
c.936T>A (p.Asn312Lys)
c.1236T>A (p.Asn412Lys)
c.1239T>A (p.Asn413Lys)
c.918T>A (p.Asn306Lys)
c.1083T>A (p.Asn361Lys)
c.*583T>A (n.*583T>A)
c.750T>A (p.Asn250Lys)
c.1209T>A (p.Asn403Lys)
c.1101T>A (p.Asn367Lys)
c.1254T>A (p.Asn418Lys)
c.1206T>A (p.Asn402Lys)
c.1089T>A (p.Asn363Lys)
c.1071T>A (p.Asn357Lys)
3g.69964924T>CCA434433432MITFc.1191T>C (p.Asn397=)
c.1188T>C (p.Asn396=)
n.1413T>C
c.1164T>C (p.Asn388=)
c.*2T>C (n.*2T>C)
c.1257T>C (p.Asn419=)
c.936T>C (p.Asn312=)
c.1236T>C (p.Asn412=)
c.1239T>C (p.Asn413=)
c.918T>C (p.Asn306=)
c.1083T>C (p.Asn361=)
c.*583T>C (n.*583T>C)
c.750T>C (p.Asn250=)
c.1209T>C (p.Asn403=)
c.1101T>C (p.Asn367=)
c.1254T>C (p.Asn418=)
c.1206T>C (p.Asn402=)
c.1089T>C (p.Asn363=)
c.1071T>C (p.Asn357=)
3g.69964924T>GCA353559466MITFc.1191T>G (p.Asn397Lys)
c.1188T>G (p.Asn396Lys)
n.1413T>G
c.1164T>G (p.Asn388Lys)
c.*2T>G (n.*2T>G)
c.1257T>G (p.Asn419Lys)
c.936T>G (p.Asn312Lys)
c.1236T>G (p.Asn412Lys)
c.1239T>G (p.Asn413Lys)
c.918T>G (p.Asn306Lys)
c.1083T>G (p.Asn361Lys)
c.*583T>G (n.*583T>G)
c.750T>G (p.Asn250Lys)
c.1209T>G (p.Asn403Lys)
c.1101T>G (p.Asn367Lys)
c.1254T>G (p.Asn418Lys)
c.1206T>G (p.Asn402Lys)
c.1089T>G (p.Asn363Lys)
c.1071T>G (p.Asn357Lys)
3g.69964925C>ACA434433433MITFc.1192C>A (p.Arg398=)
c.1189C>A (p.Arg397=)
n.1414C>A
c.1165C>A (p.Arg389=)
c.*3C>A (n.*3C>A)
c.1258C>A (p.Arg420=)
c.937C>A (p.Arg313=)
c.1237C>A (p.Arg413=)
c.1240C>A (p.Arg414=)
c.919C>A (p.Arg307=)
c.1084C>A (p.Arg362=)
c.*584C>A (n.*584C>A)
c.751C>A (p.Arg251=)
c.1210C>A (p.Arg404=)
c.1102C>A (p.Arg368=)
c.1255C>A (p.Arg419=)
c.1207C>A (p.Arg403=)
c.1090C>A (p.Arg364=)
c.1072C>A (p.Arg358=)
 dbSNP
3g.69964925C=CA1373413973MITFc.1192C= (p.Arg398=)
c.1189C= (p.Arg397=)
n.1414C=
c.1165C= (p.Arg389=)
c.*3C= (n.*3C=)
c.1258C= (p.Arg420=)
c.937C= (p.Arg313=)
c.1237C= (p.Arg413=)
c.1240C= (p.Arg414=)
c.919C= (p.Arg307=)
c.1084C= (p.Arg362=)
c.*584C= (n.*584C=)
c.751C= (p.Arg251=)
c.1210C= (p.Arg404=)
c.1102C= (p.Arg368=)
c.1255C= (p.Arg419=)
c.1207C= (p.Arg403=)
c.1090C= (p.Arg364=)
c.1072C= (p.Arg358=)
3g.69964925C>GCA353559467MITFc.1192C>G (p.Arg398Gly)
c.1189C>G (p.Arg397Gly)
n.1414C>G
c.1165C>G (p.Arg389Gly)
c.*3C>G (n.*3C>G)
c.1258C>G (p.Arg420Gly)
c.937C>G (p.Arg313Gly)
c.1237C>G (p.Arg413Gly)
c.1240C>G (p.Arg414Gly)
c.919C>G (p.Arg307Gly)
c.1084C>G (p.Arg362Gly)
c.*584C>G (n.*584C>G)
c.751C>G (p.Arg251Gly)
c.1210C>G (p.Arg404Gly)
c.1102C>G (p.Arg368Gly)
c.1255C>G (p.Arg419Gly)
c.1207C>G (p.Arg403Gly)
c.1090C>G (p.Arg364Gly)
c.1072C>G (p.Arg358Gly)
3g.69964925C>TCA2490629MITFc.1192C>T (p.Arg398Trp)
c.1189C>T (p.Arg397Trp)
n.1414C>T
c.1165C>T (p.Arg389Trp)
c.*3C>T (n.*3C>T)
c.1258C>T (p.Arg420Trp)
c.937C>T (p.Arg313Trp)
c.1237C>T (p.Arg413Trp)
c.1240C>T (p.Arg414Trp)
c.919C>T (p.Arg307Trp)
c.1084C>T (p.Arg362Trp)
c.*584C>T (n.*584C>T)
c.751C>T (p.Arg251Trp)
c.1210C>T (p.Arg404Trp)
c.1102C>T (p.Arg368Trp)
c.1255C>T (p.Arg419Trp)
c.1207C>T (p.Arg403Trp)
c.1090C>T (p.Arg364Trp)
c.1072C>T (p.Arg358Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69964926G>ACA10619393MITFc.1193G>A (p.Arg398Gln)
c.1190G>A (p.Arg397Gln)
n.1415G>A
c.1166G>A (p.Arg389Gln)
c.*4G>A (n.*4G>A)
c.1259G>A (p.Arg420Gln)
c.938G>A (p.Arg313Gln)
c.1238G>A (p.Arg413Gln)
c.1241G>A (p.Arg414Gln)
c.920G>A (p.Arg307Gln)
c.1085G>A (p.Arg362Gln)
c.*585G>A (n.*585G>A)
c.752G>A (p.Arg251Gln)
c.1211G>A (p.Arg404Gln)
c.1103G>A (p.Arg368Gln)
c.1256G>A (p.Arg419Gln)
c.1208G>A (p.Arg403Gln)
c.1091G>A (p.Arg364Gln)
c.1073G>A (p.Arg358Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964926G>CCA353559468MITFc.1193G>C (p.Arg398Pro)
c.1190G>C (p.Arg397Pro)
n.1415G>C
c.1166G>C (p.Arg389Pro)
c.*4G>C (n.*4G>C)
c.1259G>C (p.Arg420Pro)
c.938G>C (p.Arg313Pro)
c.1238G>C (p.Arg413Pro)
c.1241G>C (p.Arg414Pro)
c.920G>C (p.Arg307Pro)
c.1085G>C (p.Arg362Pro)
c.*585G>C (n.*585G>C)
c.752G>C (p.Arg251Pro)
c.1211G>C (p.Arg404Pro)
c.1103G>C (p.Arg368Pro)
c.1256G>C (p.Arg419Pro)
c.1208G>C (p.Arg403Pro)
c.1091G>C (p.Arg364Pro)
c.1073G>C (p.Arg358Pro)
3g.69964926G=CA1373413984MITFc.1193G= (p.Arg398=)
c.1190G= (p.Arg397=)
n.1415G=
c.1166G= (p.Arg389=)
c.*4G= (n.*4G=)
c.1259G= (p.Arg420=)
c.938G= (p.Arg313=)
c.1238G= (p.Arg413=)
c.1241G= (p.Arg414=)
c.920G= (p.Arg307=)
c.1085G= (p.Arg362=)
c.*585G= (n.*585G=)
c.752G= (p.Arg251=)
c.1211G= (p.Arg404=)
c.1103G= (p.Arg368=)
c.1256G= (p.Arg419=)
c.1208G= (p.Arg403=)
c.1091G= (p.Arg364=)
c.1073G= (p.Arg358=)
3g.69964926G>TCA353559469MITFc.1193G>T (p.Arg398Leu)
c.1190G>T (p.Arg397Leu)
n.1415G>T
c.1166G>T (p.Arg389Leu)
c.*4G>T (n.*4G>T)
c.1259G>T (p.Arg420Leu)
c.938G>T (p.Arg313Leu)
c.1238G>T (p.Arg413Leu)
c.1241G>T (p.Arg414Leu)
c.920G>T (p.Arg307Leu)
c.1085G>T (p.Arg362Leu)
c.*585G>T (n.*585G>T)
c.752G>T (p.Arg251Leu)
c.1211G>T (p.Arg404Leu)
c.1103G>T (p.Arg368Leu)
c.1256G>T (p.Arg419Leu)
c.1208G>T (p.Arg403Leu)
c.1091G>T (p.Arg364Leu)
c.1073G>T (p.Arg358Leu)
3g.69964927G>ACA434433437MITFc.1194G>A (p.Arg398=)
c.1191G>A (p.Arg397=)
n.1416G>A
c.1167G>A (p.Arg389=)
c.*5G>A (n.*5G>A)
c.1260G>A (p.Arg420=)
c.939G>A (p.Arg313=)
c.1239G>A (p.Arg413=)
c.1242G>A (p.Arg414=)
c.921G>A (p.Arg307=)
c.1086G>A (p.Arg362=)
c.*586G>A (n.*586G>A)
c.753G>A (p.Arg251=)
c.1212G>A (p.Arg404=)
c.1104G>A (p.Arg368=)
c.1257G>A (p.Arg419=)
c.1209G>A (p.Arg403=)
c.1092G>A (p.Arg364=)
c.1074G>A (p.Arg358=)
 dbSNP gnomAD v4
3g.69964927G>CCA434433438MITFc.1194G>C (p.Arg398=)
c.1191G>C (p.Arg397=)
n.1416G>C
c.1167G>C (p.Arg389=)
c.*5G>C (n.*5G>C)
c.1260G>C (p.Arg420=)
c.939G>C (p.Arg313=)
c.1239G>C (p.Arg413=)
c.1242G>C (p.Arg414=)
c.921G>C (p.Arg307=)
c.1086G>C (p.Arg362=)
c.*586G>C (n.*586G>C)
c.753G>C (p.Arg251=)
c.1212G>C (p.Arg404=)
c.1104G>C (p.Arg368=)
c.1257G>C (p.Arg419=)
c.1209G>C (p.Arg403=)
c.1092G>C (p.Arg364=)
c.1074G>C (p.Arg358=)
3g.69964927G>TCA434433439MITFc.1194G>T (p.Arg398=)
c.1191G>T (p.Arg397=)
n.1416G>T
c.1167G>T (p.Arg389=)
c.*5G>T (n.*5G>T)
c.1260G>T (p.Arg420=)
c.939G>T (p.Arg313=)
c.1239G>T (p.Arg413=)
c.1242G>T (p.Arg414=)
c.921G>T (p.Arg307=)
c.1086G>T (p.Arg362=)
c.*586G>T (n.*586G>T)
c.753G>T (p.Arg251=)
c.1212G>T (p.Arg404=)
c.1104G>T (p.Arg368=)
c.1257G>T (p.Arg419=)
c.1209G>T (p.Arg403=)
c.1092G>T (p.Arg364=)
c.1074G>T (p.Arg358=)
3g.69964928A>CCA353559472MITFc.1195A>C (p.Ile399Leu)
c.1192A>C (p.Ile398Leu)
n.1417A>C
c.1168A>C (p.Ile390Leu)
c.*6A>C (n.*6A>C)
c.1261A>C (p.Ile421Leu)
c.940A>C (p.Ile314Leu)
c.1240A>C (p.Ile414Leu)
c.1243A>C (p.Ile415Leu)
c.922A>C (p.Ile308Leu)
c.1087A>C (p.Ile363Leu)
c.*587A>C (n.*587A>C)
c.754A>C (p.Ile252Leu)
c.1213A>C (p.Ile405Leu)
c.1105A>C (p.Ile369Leu)
c.1258A>C (p.Ile420Leu)
c.1210A>C (p.Ile404Leu)
c.1093A>C (p.Ile365Leu)
c.1075A>C (p.Ile359Leu)
3g.69964928A>GCA353559470MITFc.1195A>G (p.Ile399Val)
c.1192A>G (p.Ile398Val)
n.1417A>G
c.1168A>G (p.Ile390Val)
c.*6A>G (n.*6A>G)
c.1261A>G (p.Ile421Val)
c.940A>G (p.Ile314Val)
c.1240A>G (p.Ile414Val)
c.1243A>G (p.Ile415Val)
c.922A>G (p.Ile308Val)
c.1087A>G (p.Ile363Val)
c.*587A>G (n.*587A>G)
c.754A>G (p.Ile252Val)
c.1213A>G (p.Ile405Val)
c.1105A>G (p.Ile369Val)
c.1258A>G (p.Ile420Val)
c.1210A>G (p.Ile404Val)
c.1093A>G (p.Ile365Val)
c.1075A>G (p.Ile359Val)
3g.69964928A>TCA353559471MITFc.1195A>T (p.Ile399Phe)
c.1192A>T (p.Ile398Phe)
n.1417A>T
c.1168A>T (p.Ile390Phe)
c.*6A>T (n.*6A>T)
c.1261A>T (p.Ile421Phe)
c.940A>T (p.Ile314Phe)
c.1240A>T (p.Ile414Phe)
c.1243A>T (p.Ile415Phe)
c.922A>T (p.Ile308Phe)
c.1087A>T (p.Ile363Phe)
c.*587A>T (n.*587A>T)
c.754A>T (p.Ile252Phe)
c.1213A>T (p.Ile405Phe)
c.1105A>T (p.Ile369Phe)
c.1258A>T (p.Ile420Phe)
c.1210A>T (p.Ile404Phe)
c.1093A>T (p.Ile365Phe)
c.1075A>T (p.Ile359Phe)
3g.69964932_69964934delCA2586972655MITFc.1199_1201del (p.Ile400del)
c.1196_1198del (p.Ile399del)
n.1421_1423del
c.1172_1174del (p.Ile391del)
c.*10_*12del (n.*10_*12del)
c.1265_1267del (p.Ile422del)
c.944_946del (p.Ile315del)
c.1244_1246del (p.Ile415del)
c.1247_1249del (p.Ile416del)
c.926_928del (p.Ile309del)
c.1091_1093del (p.Ile364del)
c.*591_*593del (n.*591_*593del)
c.758_760del (p.Ile253del)
c.1217_1219del (p.Ile406del)
c.1109_1111del (p.Ile370del)
c.1262_1264del (p.Ile421del)
c.1214_1216del (p.Ile405del)
c.1097_1099del (p.Ile366del)
c.1079_1081del (p.Ile360del)
3g.69964929T>ACA353559473MITFc.1196T>A (p.Ile399Asn)
c.1193T>A (p.Ile398Asn)
n.1418T>A
c.1169T>A (p.Ile390Asn)
c.*7T>A (n.*7T>A)
c.1262T>A (p.Ile421Asn)
c.941T>A (p.Ile314Asn)
c.1241T>A (p.Ile414Asn)
c.1244T>A (p.Ile415Asn)
c.923T>A (p.Ile308Asn)
c.1088T>A (p.Ile363Asn)
c.*588T>A (n.*588T>A)
c.755T>A (p.Ile252Asn)
c.1214T>A (p.Ile405Asn)
c.1106T>A (p.Ile369Asn)
c.1259T>A (p.Ile420Asn)
c.1211T>A (p.Ile404Asn)
c.1094T>A (p.Ile365Asn)
c.1076T>A (p.Ile359Asn)
3g.69964929T>CCA2490630MITFc.1196T>C (p.Ile399Thr)
c.1193T>C (p.Ile398Thr)
n.1418T>C
c.1169T>C (p.Ile390Thr)
c.*7T>C (n.*7T>C)
c.1262T>C (p.Ile421Thr)
c.941T>C (p.Ile314Thr)
c.1241T>C (p.Ile414Thr)
c.1244T>C (p.Ile415Thr)
c.923T>C (p.Ile308Thr)
c.1088T>C (p.Ile363Thr)
c.*588T>C (n.*588T>C)
c.755T>C (p.Ile252Thr)
c.1214T>C (p.Ile405Thr)
c.1106T>C (p.Ile369Thr)
c.1259T>C (p.Ile420Thr)
c.1211T>C (p.Ile404Thr)
c.1094T>C (p.Ile365Thr)
c.1076T>C (p.Ile359Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964929T>GCA353559474MITFc.1196T>G (p.Ile399Ser)
c.1193T>G (p.Ile398Ser)
n.1418T>G
c.1169T>G (p.Ile390Ser)
c.*7T>G (n.*7T>G)
c.1262T>G (p.Ile421Ser)
c.941T>G (p.Ile314Ser)
c.1241T>G (p.Ile414Ser)
c.1244T>G (p.Ile415Ser)
c.923T>G (p.Ile308Ser)
c.1088T>G (p.Ile363Ser)
c.*588T>G (n.*588T>G)
c.755T>G (p.Ile252Ser)
c.1214T>G (p.Ile405Ser)
c.1106T>G (p.Ile369Ser)
c.1259T>G (p.Ile420Ser)
c.1211T>G (p.Ile404Ser)
c.1094T>G (p.Ile365Ser)
c.1076T>G (p.Ile359Ser)
3g.69964929T=CA1373413994MITFc.1196T= (p.Ile399=)
c.1193T= (p.Ile398=)
n.1418T=
c.1169T= (p.Ile390=)
c.*7T= (n.*7T=)
c.1262T= (p.Ile421=)
c.941T= (p.Ile314=)
c.1241T= (p.Ile414=)
c.1244T= (p.Ile415=)
c.923T= (p.Ile308=)
c.1088T= (p.Ile363=)
c.*588T= (n.*588T=)
c.755T= (p.Ile252=)
c.1214T= (p.Ile405=)
c.1106T= (p.Ile369=)
c.1259T= (p.Ile420=)
c.1211T= (p.Ile404=)
c.1094T= (p.Ile365=)
c.1076T= (p.Ile359=)
3g.69964930C>ACA434433443MITFc.1197C>A (p.Ile399=)
c.1194C>A (p.Ile398=)
n.1419C>A
c.1170C>A (p.Ile390=)
c.*8C>A (n.*8C>A)
c.1263C>A (p.Ile421=)
c.942C>A (p.Ile314=)
c.1242C>A (p.Ile414=)
c.1245C>A (p.Ile415=)
c.924C>A (p.Ile308=)
c.1089C>A (p.Ile363=)
c.*589C>A (n.*589C>A)
c.756C>A (p.Ile252=)
c.1215C>A (p.Ile405=)
c.1107C>A (p.Ile369=)
c.1260C>A (p.Ile420=)
c.1212C>A (p.Ile404=)
c.1095C>A (p.Ile365=)
c.1077C>A (p.Ile359=)
3g.69964930C>GCA353559475MITFc.1197C>G (p.Ile399Met)
c.1194C>G (p.Ile398Met)
n.1419C>G
c.1170C>G (p.Ile390Met)
c.*8C>G (n.*8C>G)
c.1263C>G (p.Ile421Met)
c.942C>G (p.Ile314Met)
c.1242C>G (p.Ile414Met)
c.1245C>G (p.Ile415Met)
c.924C>G (p.Ile308Met)
c.1089C>G (p.Ile363Met)
c.*589C>G (n.*589C>G)
c.756C>G (p.Ile252Met)
c.1215C>G (p.Ile405Met)
c.1107C>G (p.Ile369Met)
c.1260C>G (p.Ile420Met)
c.1212C>G (p.Ile404Met)
c.1095C>G (p.Ile365Met)
c.1077C>G (p.Ile359Met)
3g.69964930C>TCA434433444MITFc.1197C>T (p.Ile399=)
c.1194C>T (p.Ile398=)
n.1419C>T
c.1170C>T (p.Ile390=)
c.*8C>T (n.*8C>T)
c.1263C>T (p.Ile421=)
c.942C>T (p.Ile314=)
c.1242C>T (p.Ile414=)
c.1245C>T (p.Ile415=)
c.924C>T (p.Ile308=)
c.1089C>T (p.Ile363=)
c.*589C>T (n.*589C>T)
c.756C>T (p.Ile252=)
c.1215C>T (p.Ile405=)
c.1107C>T (p.Ile369=)
c.1260C>T (p.Ile420=)
c.1212C>T (p.Ile404=)
c.1095C>T (p.Ile365=)
c.1077C>T (p.Ile359=)
3g.69964931A>CCA353559476MITFc.1198A>C (p.Ile400Leu)
c.1195A>C (p.Ile399Leu)
n.1420A>C
c.1171A>C (p.Ile391Leu)
c.*9A>C (n.*9A>C)
c.1264A>C (p.Ile422Leu)
c.943A>C (p.Ile315Leu)
c.1243A>C (p.Ile415Leu)
c.1246A>C (p.Ile416Leu)
c.925A>C (p.Ile309Leu)
c.1090A>C (p.Ile364Leu)
c.*590A>C (n.*590A>C)
c.757A>C (p.Ile253Leu)
c.1216A>C (p.Ile406Leu)
c.1108A>C (p.Ile370Leu)
c.1261A>C (p.Ile421Leu)
c.1213A>C (p.Ile405Leu)
c.1096A>C (p.Ile366Leu)
c.1078A>C (p.Ile360Leu)
3g.69964931A>GCA353559477MITFc.1198A>G (p.Ile400Val)
c.1195A>G (p.Ile399Val)
n.1420A>G
c.1171A>G (p.Ile391Val)
c.*9A>G (n.*9A>G)
c.1264A>G (p.Ile422Val)
c.943A>G (p.Ile315Val)
c.1243A>G (p.Ile415Val)
c.1246A>G (p.Ile416Val)
c.925A>G (p.Ile309Val)
c.1090A>G (p.Ile364Val)
c.*590A>G (n.*590A>G)
c.757A>G (p.Ile253Val)
c.1216A>G (p.Ile406Val)
c.1108A>G (p.Ile370Val)
c.1261A>G (p.Ile421Val)
c.1213A>G (p.Ile405Val)
c.1096A>G (p.Ile366Val)
c.1078A>G (p.Ile360Val)
 dbSNP
3g.69964931A>TCA353559478MITFc.1198A>T (p.Ile400Phe)
c.1195A>T (p.Ile399Phe)
n.1420A>T
c.1171A>T (p.Ile391Phe)
c.*9A>T (n.*9A>T)
c.1264A>T (p.Ile422Phe)
c.943A>T (p.Ile315Phe)
c.1243A>T (p.Ile415Phe)
c.1246A>T (p.Ile416Phe)
c.925A>T (p.Ile309Phe)
c.1090A>T (p.Ile364Phe)
c.*590A>T (n.*590A>T)
c.757A>T (p.Ile253Phe)
c.1216A>T (p.Ile406Phe)
c.1108A>T (p.Ile370Phe)
c.1261A>T (p.Ile421Phe)
c.1213A>T (p.Ile405Phe)
c.1096A>T (p.Ile366Phe)
c.1078A>T (p.Ile360Phe)
3g.69964932T>ACA353559479MITFc.1199T>A (p.Ile400Asn)
c.1196T>A (p.Ile399Asn)
n.1421T>A
c.1172T>A (p.Ile391Asn)
c.*10T>A (n.*10T>A)
c.1265T>A (p.Ile422Asn)
c.944T>A (p.Ile315Asn)
c.1244T>A (p.Ile415Asn)
c.1247T>A (p.Ile416Asn)
c.926T>A (p.Ile309Asn)
c.1091T>A (p.Ile364Asn)
c.*591T>A (n.*591T>A)
c.758T>A (p.Ile253Asn)
c.1217T>A (p.Ile406Asn)
c.1109T>A (p.Ile370Asn)
c.1262T>A (p.Ile421Asn)
c.1214T>A (p.Ile405Asn)
c.1097T>A (p.Ile366Asn)
c.1079T>A (p.Ile360Asn)
3g.69964932T>CCA353559480MITFc.1199T>C (p.Ile400Thr)
c.1196T>C (p.Ile399Thr)
n.1421T>C
c.1172T>C (p.Ile391Thr)
c.*10T>C (n.*10T>C)
c.1265T>C (p.Ile422Thr)
c.944T>C (p.Ile315Thr)
c.1244T>C (p.Ile415Thr)
c.1247T>C (p.Ile416Thr)
c.926T>C (p.Ile309Thr)
c.1091T>C (p.Ile364Thr)
c.*591T>C (n.*591T>C)
c.758T>C (p.Ile253Thr)
c.1217T>C (p.Ile406Thr)
c.1109T>C (p.Ile370Thr)
c.1262T>C (p.Ile421Thr)
c.1214T>C (p.Ile405Thr)
c.1097T>C (p.Ile366Thr)
c.1079T>C (p.Ile360Thr)
 ClinVar dbSNP gnomAD v4
3g.69964932T>GCA353559481MITFc.1199T>G (p.Ile400Ser)
c.1196T>G (p.Ile399Ser)
n.1421T>G
c.1172T>G (p.Ile391Ser)
c.*10T>G (n.*10T>G)
c.1265T>G (p.Ile422Ser)
c.944T>G (p.Ile315Ser)
c.1244T>G (p.Ile415Ser)
c.1247T>G (p.Ile416Ser)
c.926T>G (p.Ile309Ser)
c.1091T>G (p.Ile364Ser)
c.*591T>G (n.*591T>G)
c.758T>G (p.Ile253Ser)
c.1217T>G (p.Ile406Ser)
c.1109T>G (p.Ile370Ser)
c.1262T>G (p.Ile421Ser)
c.1214T>G (p.Ile405Ser)
c.1097T>G (p.Ile366Ser)
c.1079T>G (p.Ile360Ser)
3g.69964932T=CA1373413997MITFc.1199T= (p.Ile400=)
c.1196T= (p.Ile399=)
n.1421T=
c.1172T= (p.Ile391=)
c.*10T= (n.*10T=)
c.1265T= (p.Ile422=)
c.944T= (p.Ile315=)
c.1244T= (p.Ile415=)
c.1247T= (p.Ile416=)
c.926T= (p.Ile309=)
c.1091T= (p.Ile364=)
c.*591T= (n.*591T=)
c.758T= (p.Ile253=)
c.1217T= (p.Ile406=)
c.1109T= (p.Ile370=)
c.1262T= (p.Ile421=)
c.1214T= (p.Ile405=)
c.1097T= (p.Ile366=)
c.1079T= (p.Ile360=)
3g.69964933C>ACA434433578MITFc.1200C>A (p.Ile400=)
c.1197C>A (p.Ile399=)
n.1422C>A
c.1173C>A (p.Ile391=)
c.*11C>A (n.*11C>A)
c.1266C>A (p.Ile422=)
c.945C>A (p.Ile315=)
c.1245C>A (p.Ile415=)
c.1248C>A (p.Ile416=)
c.927C>A (p.Ile309=)
c.1092C>A (p.Ile364=)
c.*592C>A (n.*592C>A)
c.759C>A (p.Ile253=)
c.1218C>A (p.Ile406=)
c.1110C>A (p.Ile370=)
c.1263C>A (p.Ile421=)
c.1215C>A (p.Ile405=)
c.1098C>A (p.Ile366=)
c.1080C>A (p.Ile360=)
3g.69964933C>GCA353559482MITFc.1200C>G (p.Ile400Met)
c.1197C>G (p.Ile399Met)
n.1422C>G
c.1173C>G (p.Ile391Met)
c.*11C>G (n.*11C>G)
c.1266C>G (p.Ile422Met)
c.945C>G (p.Ile315Met)
c.1245C>G (p.Ile415Met)
c.1248C>G (p.Ile416Met)
c.927C>G (p.Ile309Met)
c.1092C>G (p.Ile364Met)
c.*592C>G (n.*592C>G)
c.759C>G (p.Ile253Met)
c.1218C>G (p.Ile406Met)
c.1110C>G (p.Ile370Met)
c.1263C>G (p.Ile421Met)
c.1215C>G (p.Ile405Met)
c.1098C>G (p.Ile366Met)
c.1080C>G (p.Ile360Met)
3g.69964933C>TCA434433583MITFc.1200C>T (p.Ile400=)
c.1197C>T (p.Ile399=)
n.1422C>T
c.1173C>T (p.Ile391=)
c.*11C>T (n.*11C>T)
c.1266C>T (p.Ile422=)
c.945C>T (p.Ile315=)
c.1245C>T (p.Ile415=)
c.1248C>T (p.Ile416=)
c.927C>T (p.Ile309=)
c.1092C>T (p.Ile364=)
c.*592C>T (n.*592C>T)
c.759C>T (p.Ile253=)
c.1218C>T (p.Ile406=)
c.1110C>T (p.Ile370=)
c.1263C>T (p.Ile421=)
c.1215C>T (p.Ile405=)
c.1098C>T (p.Ile366=)
c.1080C>T (p.Ile360=)
3g.69964934A=CA1373414001MITFc.1201A= (p.Lys401=)
c.1198A= (p.Lys400=)
n.1423A=
c.1174A= (p.Lys392=)
c.*12A= (n.*12A=)
c.1267A= (p.Lys423=)
c.946A= (p.Lys316=)
c.1246A= (p.Lys416=)
c.1249A= (p.Lys417=)
c.928A= (p.Lys310=)
c.1093A= (p.Lys365=)
c.*593A= (n.*593A=)
c.760A= (p.Lys254=)
c.1219A= (p.Lys407=)
c.1111A= (p.Lys371=)
c.1264A= (p.Lys422=)
c.1216A= (p.Lys406=)
c.1099A= (p.Lys367=)
c.1081A= (p.Lys361=)
3g.69964934A>CCA353559483MITFc.1201A>C (p.Lys401Gln)
c.1198A>C (p.Lys400Gln)
n.1423A>C
c.1174A>C (p.Lys392Gln)
c.*12A>C (n.*12A>C)
c.1267A>C (p.Lys423Gln)
c.946A>C (p.Lys316Gln)
c.1246A>C (p.Lys416Gln)
c.1249A>C (p.Lys417Gln)
c.928A>C (p.Lys310Gln)
c.1093A>C (p.Lys365Gln)
c.*593A>C (n.*593A>C)
c.760A>C (p.Lys254Gln)
c.1219A>C (p.Lys407Gln)
c.1111A>C (p.Lys371Gln)
c.1264A>C (p.Lys422Gln)
c.1216A>C (p.Lys406Gln)
c.1099A>C (p.Lys367Gln)
c.1081A>C (p.Lys361Gln)
3g.69964934A>GCA2490631MITFc.1201A>G (p.Lys401Glu)
c.1198A>G (p.Lys400Glu)
n.1423A>G
c.1174A>G (p.Lys392Glu)
c.*12A>G (n.*12A>G)
c.1267A>G (p.Lys423Glu)
c.946A>G (p.Lys316Glu)
c.1246A>G (p.Lys416Glu)
c.1249A>G (p.Lys417Glu)
c.928A>G (p.Lys310Glu)
c.1093A>G (p.Lys365Glu)
c.*593A>G (n.*593A>G)
c.760A>G (p.Lys254Glu)
c.1219A>G (p.Lys407Glu)
c.1111A>G (p.Lys371Glu)
c.1264A>G (p.Lys422Glu)
c.1216A>G (p.Lys406Glu)
c.1099A>G (p.Lys367Glu)
c.1081A>G (p.Lys361Glu)
 ClinVar dbSNP ExAC
3g.69964934A>TCA353559484MITFc.1201A>T (p.Lys401Ter)
c.1198A>T (p.Lys400Ter)
n.1423A>T
c.1174A>T (p.Lys392Ter)
c.*12A>T (n.*12A>T)
c.1267A>T (p.Lys423Ter)
c.946A>T (p.Lys316Ter)
c.1246A>T (p.Lys416Ter)
c.1249A>T (p.Lys417Ter)
c.928A>T (p.Lys310Ter)
c.1093A>T (p.Lys365Ter)
c.*593A>T (n.*593A>T)
c.760A>T (p.Lys254Ter)
c.1219A>T (p.Lys407Ter)
c.1111A>T (p.Lys371Ter)
c.1264A>T (p.Lys422Ter)
c.1216A>T (p.Lys406Ter)
c.1099A>T (p.Lys367Ter)
c.1081A>T (p.Lys361Ter)
3g.69964935A>CCA353559485MITFc.1202A>C (p.Lys401Thr)
c.1199A>C (p.Lys400Thr)
n.1424A>C
c.1175A>C (p.Lys392Thr)
c.*13A>C (n.*13A>C)
c.1268A>C (p.Lys423Thr)
c.947A>C (p.Lys316Thr)
c.1247A>C (p.Lys416Thr)
c.1250A>C (p.Lys417Thr)
c.929A>C (p.Lys310Thr)
c.1094A>C (p.Lys365Thr)
c.*594A>C (n.*594A>C)
c.761A>C (p.Lys254Thr)
c.1220A>C (p.Lys407Thr)
c.1112A>C (p.Lys371Thr)
c.1265A>C (p.Lys422Thr)
c.1217A>C (p.Lys406Thr)
c.1100A>C (p.Lys367Thr)
c.1082A>C (p.Lys361Thr)
3g.69964935A>GCA353559487MITFc.1202A>G (p.Lys401Arg)
c.1199A>G (p.Lys400Arg)
n.1424A>G
c.1175A>G (p.Lys392Arg)
c.*13A>G (n.*13A>G)
c.1268A>G (p.Lys423Arg)
c.947A>G (p.Lys316Arg)
c.1247A>G (p.Lys416Arg)
c.1250A>G (p.Lys417Arg)
c.929A>G (p.Lys310Arg)
c.1094A>G (p.Lys365Arg)
c.*594A>G (n.*594A>G)
c.761A>G (p.Lys254Arg)
c.1220A>G (p.Lys407Arg)
c.1112A>G (p.Lys371Arg)
c.1265A>G (p.Lys422Arg)
c.1217A>G (p.Lys406Arg)
c.1100A>G (p.Lys367Arg)
c.1082A>G (p.Lys361Arg)
3g.69964935A>TCA353559486MITFc.1202A>T (p.Lys401Met)
c.1199A>T (p.Lys400Met)
n.1424A>T
c.1175A>T (p.Lys392Met)
c.*13A>T (n.*13A>T)
c.1268A>T (p.Lys423Met)
c.947A>T (p.Lys316Met)
c.1247A>T (p.Lys416Met)
c.1250A>T (p.Lys417Met)
c.929A>T (p.Lys310Met)
c.1094A>T (p.Lys365Met)
c.*594A>T (n.*594A>T)
c.761A>T (p.Lys254Met)
c.1220A>T (p.Lys407Met)
c.1112A>T (p.Lys371Met)
c.1265A>T (p.Lys422Met)
c.1217A>T (p.Lys406Met)
c.1100A>T (p.Lys367Met)
c.1082A>T (p.Lys361Met)
3g.69964936G>ACA434433592MITFc.1203G>A (p.Lys401=)
c.1200G>A (p.Lys400=)
n.1425G>A
c.1176G>A (p.Lys392=)
c.*14G>A (n.*14G>A)
c.1269G>A (p.Lys423=)
c.948G>A (p.Lys316=)
c.1248G>A (p.Lys416=)
c.1251G>A (p.Lys417=)
c.930G>A (p.Lys310=)
c.1095G>A (p.Lys365=)
c.*595G>A (n.*595G>A)
c.762G>A (p.Lys254=)
c.1221G>A (p.Lys407=)
c.1113G>A (p.Lys371=)
c.1266G>A (p.Lys422=)
c.1218G>A (p.Lys406=)
c.1101G>A (p.Lys367=)
c.1083G>A (p.Lys361=)
3g.69964936G>CCA353559488MITFc.1203G>C (p.Lys401Asn)
c.1200G>C (p.Lys400Asn)
n.1425G>C
c.1176G>C (p.Lys392Asn)
c.*14G>C (n.*14G>C)
c.1269G>C (p.Lys423Asn)
c.948G>C (p.Lys316Asn)
c.1248G>C (p.Lys416Asn)
c.1251G>C (p.Lys417Asn)
c.930G>C (p.Lys310Asn)
c.1095G>C (p.Lys365Asn)
c.*595G>C (n.*595G>C)
c.762G>C (p.Lys254Asn)
c.1221G>C (p.Lys407Asn)
c.1113G>C (p.Lys371Asn)
c.1266G>C (p.Lys422Asn)
c.1218G>C (p.Lys406Asn)
c.1101G>C (p.Lys367Asn)
c.1083G>C (p.Lys361Asn)
 dbSNP gnomAD v2
3g.69964936G=CA1373414006MITFc.1203G= (p.Lys401=)
c.1200G= (p.Lys400=)
n.1425G=
c.1176G= (p.Lys392=)
c.*14G= (n.*14G=)
c.1269G= (p.Lys423=)
c.948G= (p.Lys316=)
c.1248G= (p.Lys416=)
c.1251G= (p.Lys417=)
c.930G= (p.Lys310=)
c.1095G= (p.Lys365=)
c.*595G= (n.*595G=)
c.762G= (p.Lys254=)
c.1221G= (p.Lys407=)
c.1113G= (p.Lys371=)
c.1266G= (p.Lys422=)
c.1218G= (p.Lys406=)
c.1101G= (p.Lys367=)
c.1083G= (p.Lys361=)
3g.69964936G>TCA353559489MITFc.1203G>T (p.Lys401Asn)
c.1200G>T (p.Lys400Asn)
n.1425G>T
c.1176G>T (p.Lys392Asn)
c.*14G>T (n.*14G>T)
c.1269G>T (p.Lys423Asn)
c.948G>T (p.Lys316Asn)
c.1248G>T (p.Lys416Asn)
c.1251G>T (p.Lys417Asn)
c.930G>T (p.Lys310Asn)
c.1095G>T (p.Lys365Asn)
c.*595G>T (n.*595G>T)
c.762G>T (p.Lys254Asn)
c.1221G>T (p.Lys407Asn)
c.1113G>T (p.Lys371Asn)
c.1266G>T (p.Lys422Asn)
c.1218G>T (p.Lys406Asn)
c.1101G>T (p.Lys367Asn)
c.1083G>T (p.Lys361Asn)
3g.69964937C>ACA353559490MITFc.1204C>A (p.Gln402Lys)
c.1201C>A (p.Gln401Lys)
n.1426C>A
c.1177C>A (p.Gln393Lys)
c.*15C>A (n.*15C>A)
c.1270C>A (p.Gln424Lys)
c.949C>A (p.Gln317Lys)
c.1249C>A (p.Gln417Lys)
c.1252C>A (p.Gln418Lys)
c.931C>A (p.Gln311Lys)
c.1096C>A (p.Gln366Lys)
c.*596C>A (n.*596C>A)
c.763C>A (p.Gln255Lys)
c.1222C>A (p.Gln408Lys)
c.1114C>A (p.Gln372Lys)
c.1267C>A (p.Gln423Lys)
c.1219C>A (p.Gln407Lys)
c.1102C>A (p.Gln368Lys)
c.1084C>A (p.Gln362Lys)
3g.69964937C=CA1373414012MITFc.1204C= (p.Gln402=)
c.1201C= (p.Gln401=)
n.1426C=
c.1177C= (p.Gln393=)
c.*15C= (n.*15C=)
c.1270C= (p.Gln424=)
c.949C= (p.Gln317=)
c.1249C= (p.Gln417=)
c.1252C= (p.Gln418=)
c.931C= (p.Gln311=)
c.1096C= (p.Gln366=)
c.*596C= (n.*596C=)
c.763C= (p.Gln255=)
c.1222C= (p.Gln408=)
c.1114C= (p.Gln372=)
c.1267C= (p.Gln423=)
c.1219C= (p.Gln407=)
c.1102C= (p.Gln368=)
c.1084C= (p.Gln362=)
3g.69964937C>GCA353559491MITFc.1204C>G (p.Gln402Glu)
c.1201C>G (p.Gln401Glu)
n.1426C>G
c.1177C>G (p.Gln393Glu)
c.*15C>G (n.*15C>G)
c.1270C>G (p.Gln424Glu)
c.949C>G (p.Gln317Glu)
c.1249C>G (p.Gln417Glu)
c.1252C>G (p.Gln418Glu)
c.931C>G (p.Gln311Glu)
c.1096C>G (p.Gln366Glu)
c.*596C>G (n.*596C>G)
c.763C>G (p.Gln255Glu)
c.1222C>G (p.Gln408Glu)
c.1114C>G (p.Gln372Glu)
c.1267C>G (p.Gln423Glu)
c.1219C>G (p.Gln407Glu)
c.1102C>G (p.Gln368Glu)
c.1084C>G (p.Gln362Glu)
 dbSNP gnomAD v4
3g.69964937C>TCA353559492MITFc.1204C>T (p.Gln402Ter)
c.1201C>T (p.Gln401Ter)
n.1426C>T
c.1177C>T (p.Gln393Ter)
c.*15C>T (n.*15C>T)
c.1270C>T (p.Gln424Ter)
c.949C>T (p.Gln317Ter)
c.1249C>T (p.Gln417Ter)
c.1252C>T (p.Gln418Ter)
c.931C>T (p.Gln311Ter)
c.1096C>T (p.Gln366Ter)
c.*596C>T (n.*596C>T)
c.763C>T (p.Gln255Ter)
c.1222C>T (p.Gln408Ter)
c.1114C>T (p.Gln372Ter)
c.1267C>T (p.Gln423Ter)
c.1219C>T (p.Gln407Ter)
c.1102C>T (p.Gln368Ter)
c.1084C>T (p.Gln362Ter)
 dbSNP
3g.69964938A>CCA353559493MITFc.1205A>C (p.Gln402Pro)
c.1202A>C (p.Gln401Pro)
n.1427A>C
c.1178A>C (p.Gln393Pro)
c.*16A>C (n.*16A>C)
c.1271A>C (p.Gln424Pro)
c.950A>C (p.Gln317Pro)
c.1250A>C (p.Gln417Pro)
c.1253A>C (p.Gln418Pro)
c.932A>C (p.Gln311Pro)
c.1097A>C (p.Gln366Pro)
c.*597A>C (n.*597A>C)
c.764A>C (p.Gln255Pro)
c.1223A>C (p.Gln408Pro)
c.1115A>C (p.Gln372Pro)
c.1268A>C (p.Gln423Pro)
c.1220A>C (p.Gln407Pro)
c.1103A>C (p.Gln368Pro)
c.1085A>C (p.Gln362Pro)
 gnomAD v4
3g.69964938A>GCA353559494MITFc.1205A>G (p.Gln402Arg)
c.1202A>G (p.Gln401Arg)
n.1427A>G
c.1178A>G (p.Gln393Arg)
c.*16A>G (n.*16A>G)
c.1271A>G (p.Gln424Arg)
c.950A>G (p.Gln317Arg)
c.1250A>G (p.Gln417Arg)
c.1253A>G (p.Gln418Arg)
c.932A>G (p.Gln311Arg)
c.1097A>G (p.Gln366Arg)
c.*597A>G (n.*597A>G)
c.764A>G (p.Gln255Arg)
c.1223A>G (p.Gln408Arg)
c.1115A>G (p.Gln372Arg)
c.1268A>G (p.Gln423Arg)
c.1220A>G (p.Gln407Arg)
c.1103A>G (p.Gln368Arg)
c.1085A>G (p.Gln362Arg)
 ClinVar
3g.69964938A>TCA353559495MITFc.1205A>T (p.Gln402Leu)
c.1202A>T (p.Gln401Leu)
n.1427A>T
c.1178A>T (p.Gln393Leu)
c.*16A>T (n.*16A>T)
c.1271A>T (p.Gln424Leu)
c.950A>T (p.Gln317Leu)
c.1250A>T (p.Gln417Leu)
c.1253A>T (p.Gln418Leu)
c.932A>T (p.Gln311Leu)
c.1097A>T (p.Gln366Leu)
c.*597A>T (n.*597A>T)
c.764A>T (p.Gln255Leu)
c.1223A>T (p.Gln408Leu)
c.1115A>T (p.Gln372Leu)
c.1268A>T (p.Gln423Leu)
c.1220A>T (p.Gln407Leu)
c.1103A>T (p.Gln368Leu)
c.1085A>T (p.Gln362Leu)
3g.69964939A=CA1373414014MITFc.1206A= (p.Gln402=)
c.1203A= (p.Gln401=)
n.1428A=
c.1179A= (p.Gln393=)
c.*17A= (n.*17A=)
c.1272A= (p.Gln424=)
c.951A= (p.Gln317=)
c.1251A= (p.Gln417=)
c.1254A= (p.Gln418=)
c.933A= (p.Gln311=)
c.1098A= (p.Gln366=)
c.*598A= (n.*598A=)
c.765A= (p.Gln255=)
c.1224A= (p.Gln408=)
c.1116A= (p.Gln372=)
c.1269A= (p.Gln423=)
c.1221A= (p.Gln407=)
c.1104A= (p.Gln368=)
c.1086A= (p.Gln362=)
3g.69964939A>CCA353559496MITFc.1206A>C (p.Gln402His)
c.1203A>C (p.Gln401His)
n.1428A>C
c.1179A>C (p.Gln393His)
c.*17A>C (n.*17A>C)
c.1272A>C (p.Gln424His)
c.951A>C (p.Gln317His)
c.1251A>C (p.Gln417His)
c.1254A>C (p.Gln418His)
c.933A>C (p.Gln311His)
c.1098A>C (p.Gln366His)
c.*598A>C (n.*598A>C)
c.765A>C (p.Gln255His)
c.1224A>C (p.Gln408His)
c.1116A>C (p.Gln372His)
c.1269A>C (p.Gln423His)
c.1221A>C (p.Gln407His)
c.1104A>C (p.Gln368His)
c.1086A>C (p.Gln362His)
3g.69964939A>GCA434433601MITFc.1206A>G (p.Gln402=)
c.1203A>G (p.Gln401=)
n.1428A>G
c.1179A>G (p.Gln393=)
c.*17A>G (n.*17A>G)
c.1272A>G (p.Gln424=)
c.951A>G (p.Gln317=)
c.1251A>G (p.Gln417=)
c.1254A>G (p.Gln418=)
c.933A>G (p.Gln311=)
c.1098A>G (p.Gln366=)
c.*598A>G (n.*598A>G)
c.765A>G (p.Gln255=)
c.1224A>G (p.Gln408=)
c.1116A>G (p.Gln372=)
c.1269A>G (p.Gln423=)
c.1221A>G (p.Gln407=)
c.1104A>G (p.Gln368=)
c.1086A>G (p.Gln362=)
 dbSNP gnomAD v2
3g.69964939A>TCA353559497MITFc.1206A>T (p.Gln402His)
c.1203A>T (p.Gln401His)
n.1428A>T
c.1179A>T (p.Gln393His)
c.*17A>T (n.*17A>T)
c.1272A>T (p.Gln424His)
c.951A>T (p.Gln317His)
c.1251A>T (p.Gln417His)
c.1254A>T (p.Gln418His)
c.933A>T (p.Gln311His)
c.1098A>T (p.Gln366His)
c.*598A>T (n.*598A>T)
c.765A>T (p.Gln255His)
c.1224A>T (p.Gln408His)
c.1116A>T (p.Gln372His)
c.1269A>T (p.Gln423His)
c.1221A>T (p.Gln407His)
c.1104A>T (p.Gln368His)
c.1086A>T (p.Gln362His)
3g.69964941_69964962dupCA2573137438MITFc.1208_1229dup (p.Ser410ArgfsTer5)
c.1205_1226dup (p.Ser409ArgfsTer5)
n.1430_1451dup
c.1181_1202dup (p.Ser401ArgfsTer5)
c.*19_*40dup (n.*19_*40dup)
c.1274_1295dup (p.Ser432ArgfsTer5)
c.953_974dup (p.Ser325ArgfsTer5)
c.1253_1274dup (p.Ser425ArgfsTer5)
c.1256_1277dup (p.Ser426ArgfsTer5)
c.935_956dup (p.Ser319ArgfsTer5)
c.1100_1121dup (p.Ser374ArgfsTer5)
c.*600_*621dup (n.*600_*621dup)
c.767_788dup (p.Ser263ArgfsTer5)
c.1226_1247dup (p.Ser416ArgfsTer5)
c.1118_1139dup (p.Ser380ArgfsTer5)
c.1271_1292dup (p.Ser431ArgfsTer5)
c.1223_1244dup (p.Ser415ArgfsTer5)
c.1106_1127dup (p.Ser376ArgfsTer5)
c.1088_1109dup (p.Ser370ArgfsTer5)
 ClinVar dbSNP
3g.69964940G>ACA128649MITFc.1207G>A (p.Glu403Lys)
c.1204G>A (p.Glu402Lys)
n.1429G>A
c.1180G>A (p.Glu394Lys)
c.*18G>A (n.*18G>A)
c.1273G>A (p.Glu425Lys)
c.952G>A (p.Glu318Lys)
c.1252G>A (p.Glu418Lys)
c.1255G>A (p.Glu419Lys)
c.934G>A (p.Glu312Lys)
c.1099G>A (p.Glu367Lys)
c.*599G>A (n.*599G>A)
c.766G>A (p.Glu256Lys)
c.1225G>A (p.Glu409Lys)
c.1117G>A (p.Glu373Lys)
c.1270G>A (p.Glu424Lys)
c.1222G>A (p.Glu408Lys)
c.1105G>A (p.Glu369Lys)
c.1087G>A (p.Glu363Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964940G>CCA353559499MITFc.1207G>C (p.Glu403Gln)
c.1204G>C (p.Glu402Gln)
n.1429G>C
c.1180G>C (p.Glu394Gln)
c.*18G>C (n.*18G>C)
c.1273G>C (p.Glu425Gln)
c.952G>C (p.Glu318Gln)
c.1252G>C (p.Glu418Gln)
c.1255G>C (p.Glu419Gln)
c.934G>C (p.Glu312Gln)
c.1099G>C (p.Glu367Gln)
c.*599G>C (n.*599G>C)
c.766G>C (p.Glu256Gln)
c.1225G>C (p.Glu409Gln)
c.1117G>C (p.Glu373Gln)
c.1270G>C (p.Glu424Gln)
c.1222G>C (p.Glu408Gln)
c.1105G>C (p.Glu369Gln)
c.1087G>C (p.Glu363Gln)
3g.69964940G=CA1373414027MITFc.1207G= (p.Glu403=)
c.1204G= (p.Glu402=)
n.1429G=
c.1180G= (p.Glu394=)
c.*18G= (n.*18G=)
c.1273G= (p.Glu425=)
c.952G= (p.Glu318=)
c.1252G= (p.Glu418=)
c.1255G= (p.Glu419=)
c.934G= (p.Glu312=)
c.1099G= (p.Glu367=)
c.*599G= (n.*599G=)
c.766G= (p.Glu256=)
c.1225G= (p.Glu409=)
c.1117G= (p.Glu373=)
c.1270G= (p.Glu424=)
c.1222G= (p.Glu408=)
c.1105G= (p.Glu369=)
c.1087G= (p.Glu363=)
3g.69964940G>TCA353559498MITFc.1207G>T (p.Glu403Ter)
c.1204G>T (p.Glu402Ter)
n.1429G>T
c.1180G>T (p.Glu394Ter)
c.*18G>T (n.*18G>T)
c.1273G>T (p.Glu425Ter)
c.952G>T (p.Glu318Ter)
c.1252G>T (p.Glu418Ter)
c.1255G>T (p.Glu419Ter)
c.934G>T (p.Glu312Ter)
c.1099G>T (p.Glu367Ter)
c.*599G>T (n.*599G>T)
c.766G>T (p.Glu256Ter)
c.1225G>T (p.Glu409Ter)
c.1117G>T (p.Glu373Ter)
c.1270G>T (p.Glu424Ter)
c.1222G>T (p.Glu408Ter)
c.1105G>T (p.Glu369Ter)
c.1087G>T (p.Glu363Ter)
 ClinVar dbSNP
3g.69964941A>CCA353559500MITFc.1208A>C (p.Glu403Ala)
c.1205A>C (p.Glu402Ala)
n.1430A>C
c.1181A>C (p.Glu394Ala)
c.*19A>C (n.*19A>C)
c.1274A>C (p.Glu425Ala)
c.953A>C (p.Glu318Ala)
c.1253A>C (p.Glu418Ala)
c.1256A>C (p.Glu419Ala)
c.935A>C (p.Glu312Ala)
c.1100A>C (p.Glu367Ala)
c.*600A>C (n.*600A>C)
c.767A>C (p.Glu256Ala)
c.1226A>C (p.Glu409Ala)
c.1118A>C (p.Glu373Ala)
c.1271A>C (p.Glu424Ala)
c.1223A>C (p.Glu408Ala)
c.1106A>C (p.Glu369Ala)
c.1088A>C (p.Glu363Ala)
3g.69964941A>GCA353559501MITFc.1208A>G (p.Glu403Gly)
c.1205A>G (p.Glu402Gly)
n.1430A>G
c.1181A>G (p.Glu394Gly)
c.*19A>G (n.*19A>G)
c.1274A>G (p.Glu425Gly)
c.953A>G (p.Glu318Gly)
c.1253A>G (p.Glu418Gly)
c.1256A>G (p.Glu419Gly)
c.935A>G (p.Glu312Gly)
c.1100A>G (p.Glu367Gly)
c.*600A>G (n.*600A>G)
c.767A>G (p.Glu256Gly)
c.1226A>G (p.Glu409Gly)
c.1118A>G (p.Glu373Gly)
c.1271A>G (p.Glu424Gly)
c.1223A>G (p.Glu408Gly)
c.1106A>G (p.Glu369Gly)
c.1088A>G (p.Glu363Gly)
3g.69964941A>TCA353559502MITFc.1208A>T (p.Glu403Val)
c.1205A>T (p.Glu402Val)
n.1430A>T
c.1181A>T (p.Glu394Val)
c.*19A>T (n.*19A>T)
c.1274A>T (p.Glu425Val)
c.953A>T (p.Glu318Val)
c.1253A>T (p.Glu418Val)
c.1256A>T (p.Glu419Val)
c.935A>T (p.Glu312Val)
c.1100A>T (p.Glu367Val)
c.*600A>T (n.*600A>T)
c.767A>T (p.Glu256Val)
c.1226A>T (p.Glu409Val)
c.1118A>T (p.Glu373Val)
c.1271A>T (p.Glu424Val)
c.1223A>T (p.Glu408Val)
c.1106A>T (p.Glu369Val)
c.1088A>T (p.Glu363Val)
3g.69964942A=CA1373414032MITFc.1209A= (p.Glu403=)
c.1206A= (p.Glu402=)
n.1431A=
c.1182A= (p.Glu394=)
c.*20A= (n.*20A=)
c.1275A= (p.Glu425=)
c.954A= (p.Glu318=)
c.1254A= (p.Glu418=)
c.1257A= (p.Glu419=)
c.936A= (p.Glu312=)
c.1101A= (p.Glu367=)
c.*601A= (n.*601A=)
c.768A= (p.Glu256=)
c.1227A= (p.Glu409=)
c.1119A= (p.Glu373=)
c.1272A= (p.Glu424=)
c.1224A= (p.Glu408=)
c.1107A= (p.Glu369=)
c.1089A= (p.Glu363=)
3g.69964942A>CCA353559503MITFc.1209A>C (p.Glu403Asp)
c.1206A>C (p.Glu402Asp)
n.1431A>C
c.1182A>C (p.Glu394Asp)
c.*20A>C (n.*20A>C)
c.1275A>C (p.Glu425Asp)
c.954A>C (p.Glu318Asp)
c.1254A>C (p.Glu418Asp)
c.1257A>C (p.Glu419Asp)
c.936A>C (p.Glu312Asp)
c.1101A>C (p.Glu367Asp)
c.*601A>C (n.*601A>C)
c.768A>C (p.Glu256Asp)
c.1227A>C (p.Glu409Asp)
c.1119A>C (p.Glu373Asp)
c.1272A>C (p.Glu424Asp)
c.1224A>C (p.Glu408Asp)
c.1107A>C (p.Glu369Asp)
c.1089A>C (p.Glu363Asp)
 dbSNP
3g.69964942A>GCA434433608MITFc.1209A>G (p.Glu403=)
c.1206A>G (p.Glu402=)
n.1431A>G
c.1182A>G (p.Glu394=)
c.*20A>G (n.*20A>G)
c.1275A>G (p.Glu425=)
c.954A>G (p.Glu318=)
c.1254A>G (p.Glu418=)
c.1257A>G (p.Glu419=)
c.936A>G (p.Glu312=)
c.1101A>G (p.Glu367=)
c.*601A>G (n.*601A>G)
c.768A>G (p.Glu256=)
c.1227A>G (p.Glu409=)
c.1119A>G (p.Glu373=)
c.1272A>G (p.Glu424=)
c.1224A>G (p.Glu408=)
c.1107A>G (p.Glu369=)
c.1089A>G (p.Glu363=)
 dbSNP gnomAD v4
3g.69964942A>TCA353559504MITFc.1209A>T (p.Glu403Asp)
c.1206A>T (p.Glu402Asp)
n.1431A>T
c.1182A>T (p.Glu394Asp)
c.*20A>T (n.*20A>T)
c.1275A>T (p.Glu425Asp)
c.954A>T (p.Glu318Asp)
c.1254A>T (p.Glu418Asp)
c.1257A>T (p.Glu419Asp)
c.936A>T (p.Glu312Asp)
c.1101A>T (p.Glu367Asp)
c.*601A>T (n.*601A>T)
c.768A>T (p.Glu256Asp)
c.1227A>T (p.Glu409Asp)
c.1119A>T (p.Glu373Asp)
c.1272A>T (p.Glu424Asp)
c.1224A>T (p.Glu408Asp)
c.1107A>T (p.Glu369Asp)
c.1089A>T (p.Glu363Asp)
3g.69964943C>ACA2490633MITFc.1210C>A (p.Pro404Thr)
c.1207C>A (p.Pro403Thr)
n.1432C>A
c.1183C>A (p.Pro395Thr)
c.*21C>A (n.*21C>A)
c.1276C>A (p.Pro426Thr)
c.955C>A (p.Pro319Thr)
c.1255C>A (p.Pro419Thr)
c.1258C>A (p.Pro420Thr)
c.937C>A (p.Pro313Thr)
c.1102C>A (p.Pro368Thr)
c.*602C>A (n.*602C>A)
c.769C>A (p.Pro257Thr)
c.1228C>A (p.Pro410Thr)
c.1120C>A (p.Pro374Thr)
c.1273C>A (p.Pro425Thr)
c.1225C>A (p.Pro409Thr)
c.1108C>A (p.Pro370Thr)
c.1090C>A (p.Pro364Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964943C=CA1373414036MITFc.1210C= (p.Pro404=)
c.1207C= (p.Pro403=)
n.1432C=
c.1183C= (p.Pro395=)
c.*21C= (n.*21C=)
c.1276C= (p.Pro426=)
c.955C= (p.Pro319=)
c.1255C= (p.Pro419=)
c.1258C= (p.Pro420=)
c.937C= (p.Pro313=)
c.1102C= (p.Pro368=)
c.*602C= (n.*602C=)
c.769C= (p.Pro257=)
c.1228C= (p.Pro410=)
c.1120C= (p.Pro374=)
c.1273C= (p.Pro425=)
c.1225C= (p.Pro409=)
c.1108C= (p.Pro370=)
c.1090C= (p.Pro364=)
3g.69964943C>GCA353559505MITFc.1210C>G (p.Pro404Ala)
c.1207C>G (p.Pro403Ala)
n.1432C>G
c.1183C>G (p.Pro395Ala)
c.*21C>G (n.*21C>G)
c.1276C>G (p.Pro426Ala)
c.955C>G (p.Pro319Ala)
c.1255C>G (p.Pro419Ala)
c.1258C>G (p.Pro420Ala)
c.937C>G (p.Pro313Ala)
c.1102C>G (p.Pro368Ala)
c.*602C>G (n.*602C>G)
c.769C>G (p.Pro257Ala)
c.1228C>G (p.Pro410Ala)
c.1120C>G (p.Pro374Ala)
c.1273C>G (p.Pro425Ala)
c.1225C>G (p.Pro409Ala)
c.1108C>G (p.Pro370Ala)
c.1090C>G (p.Pro364Ala)
3g.69964943C>TCA2490632MITFc.1210C>T (p.Pro404Ser)
c.1207C>T (p.Pro403Ser)
n.1432C>T
c.1183C>T (p.Pro395Ser)
c.*21C>T (n.*21C>T)
c.1276C>T (p.Pro426Ser)
c.955C>T (p.Pro319Ser)
c.1255C>T (p.Pro419Ser)
c.1258C>T (p.Pro420Ser)
c.937C>T (p.Pro313Ser)
c.1102C>T (p.Pro368Ser)
c.*602C>T (n.*602C>T)
c.769C>T (p.Pro257Ser)
c.1228C>T (p.Pro410Ser)
c.1120C>T (p.Pro374Ser)
c.1273C>T (p.Pro425Ser)
c.1225C>T (p.Pro409Ser)
c.1108C>T (p.Pro370Ser)
c.1090C>T (p.Pro364Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964944C>ACA353559506MITFc.1211C>A (p.Pro404His)
c.1208C>A (p.Pro403His)
n.1433C>A
c.1184C>A (p.Pro395His)
c.*22C>A (n.*22C>A)
c.1277C>A (p.Pro426His)
c.956C>A (p.Pro319His)
c.1256C>A (p.Pro419His)
c.1259C>A (p.Pro420His)
c.938C>A (p.Pro313His)
c.1103C>A (p.Pro368His)
c.*603C>A (n.*603C>A)
c.770C>A (p.Pro257His)
c.1229C>A (p.Pro410His)
c.1121C>A (p.Pro374His)
c.1274C>A (p.Pro425His)
c.1226C>A (p.Pro409His)
c.1109C>A (p.Pro370His)
c.1091C>A (p.Pro364His)
 dbSNP gnomAD v4
3g.69964944C=CA1373414040MITFc.1211C= (p.Pro404=)
c.1208C= (p.Pro403=)
n.1433C=
c.1184C= (p.Pro395=)
c.*22C= (n.*22C=)
c.1277C= (p.Pro426=)
c.956C= (p.Pro319=)
c.1256C= (p.Pro419=)
c.1259C= (p.Pro420=)
c.938C= (p.Pro313=)
c.1103C= (p.Pro368=)
c.*603C= (n.*603C=)
c.770C= (p.Pro257=)
c.1229C= (p.Pro410=)
c.1121C= (p.Pro374=)
c.1274C= (p.Pro425=)
c.1226C= (p.Pro409=)
c.1109C= (p.Pro370=)
c.1091C= (p.Pro364=)
3g.69964944C>GCA353559507MITFc.1211C>G (p.Pro404Arg)
c.1208C>G (p.Pro403Arg)
n.1433C>G
c.1184C>G (p.Pro395Arg)
c.*22C>G (n.*22C>G)
c.1277C>G (p.Pro426Arg)
c.956C>G (p.Pro319Arg)
c.1256C>G (p.Pro419Arg)
c.1259C>G (p.Pro420Arg)
c.938C>G (p.Pro313Arg)
c.1103C>G (p.Pro368Arg)
c.*603C>G (n.*603C>G)
c.770C>G (p.Pro257Arg)
c.1229C>G (p.Pro410Arg)
c.1121C>G (p.Pro374Arg)
c.1274C>G (p.Pro425Arg)
c.1226C>G (p.Pro409Arg)
c.1109C>G (p.Pro370Arg)
c.1091C>G (p.Pro364Arg)
3g.69964944C>TCA353559508MITFc.1211C>T (p.Pro404Leu)
c.1208C>T (p.Pro403Leu)
n.1433C>T
c.1184C>T (p.Pro395Leu)
c.*22C>T (n.*22C>T)
c.1277C>T (p.Pro426Leu)
c.956C>T (p.Pro319Leu)
c.1256C>T (p.Pro419Leu)
c.1259C>T (p.Pro420Leu)
c.938C>T (p.Pro313Leu)
c.1103C>T (p.Pro368Leu)
c.*603C>T (n.*603C>T)
c.770C>T (p.Pro257Leu)
c.1229C>T (p.Pro410Leu)
c.1121C>T (p.Pro374Leu)
c.1274C>T (p.Pro425Leu)
c.1226C>T (p.Pro409Leu)
c.1109C>T (p.Pro370Leu)
c.1091C>T (p.Pro364Leu)
 gnomAD v4
3g.69964945C>ACA434433612MITFc.1212C>A (p.Pro404=)
c.1209C>A (p.Pro403=)
n.1434C>A
c.1185C>A (p.Pro395=)
c.*23C>A (n.*23C>A)
c.1278C>A (p.Pro426=)
c.957C>A (p.Pro319=)
c.1257C>A (p.Pro419=)
c.1260C>A (p.Pro420=)
c.939C>A (p.Pro313=)
c.1104C>A (p.Pro368=)
c.*604C>A (n.*604C>A)
c.771C>A (p.Pro257=)
c.1230C>A (p.Pro410=)
c.1122C>A (p.Pro374=)
c.1275C>A (p.Pro425=)
c.1227C>A (p.Pro409=)
c.1110C>A (p.Pro370=)
c.1092C>A (p.Pro364=)
 dbSNP gnomAD v3 gnomAD v4
3g.69964945C=CA1373414043MITFc.1212C= (p.Pro404=)
c.1209C= (p.Pro403=)
n.1434C=
c.1185C= (p.Pro395=)
c.*23C= (n.*23C=)
c.1278C= (p.Pro426=)
c.957C= (p.Pro319=)
c.1257C= (p.Pro419=)
c.1260C= (p.Pro420=)
c.939C= (p.Pro313=)
c.1104C= (p.Pro368=)
c.*604C= (n.*604C=)
c.771C= (p.Pro257=)
c.1230C= (p.Pro410=)
c.1122C= (p.Pro374=)
c.1275C= (p.Pro425=)
c.1227C= (p.Pro409=)
c.1110C= (p.Pro370=)
c.1092C= (p.Pro364=)
3g.69964945C>GCA434433610MITFc.1212C>G (p.Pro404=)
c.1209C>G (p.Pro403=)
n.1434C>G
c.1185C>G (p.Pro395=)
c.*23C>G (n.*23C>G)
c.1278C>G (p.Pro426=)
c.957C>G (p.Pro319=)
c.1257C>G (p.Pro419=)
c.1260C>G (p.Pro420=)
c.939C>G (p.Pro313=)
c.1104C>G (p.Pro368=)
c.*604C>G (n.*604C>G)
c.771C>G (p.Pro257=)
c.1230C>G (p.Pro410=)
c.1122C>G (p.Pro374=)
c.1275C>G (p.Pro425=)
c.1227C>G (p.Pro409=)
c.1110C>G (p.Pro370=)
c.1092C>G (p.Pro364=)
 dbSNP
3g.69964945C>TCA434433611MITFc.1212C>T (p.Pro404=)
c.1209C>T (p.Pro403=)
n.1434C>T
c.1185C>T (p.Pro395=)
c.*23C>T (n.*23C>T)
c.1278C>T (p.Pro426=)
c.957C>T (p.Pro319=)
c.1257C>T (p.Pro419=)
c.1260C>T (p.Pro420=)
c.939C>T (p.Pro313=)
c.1104C>T (p.Pro368=)
c.*604C>T (n.*604C>T)
c.771C>T (p.Pro257=)
c.1230C>T (p.Pro410=)
c.1122C>T (p.Pro374=)
c.1275C>T (p.Pro425=)
c.1227C>T (p.Pro409=)
c.1110C>T (p.Pro370=)
c.1092C>T (p.Pro364=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964945_69964947delCA2549910303MITFc.1212_1214del (p.Val405del)
c.1209_1211del (p.Val404del)
n.1434_1436del
c.1185_1187del (p.Val396del)
c.*23_*25del (n.*23_*25del)
c.1278_1280del (p.Val427del)
c.957_959del (p.Val320del)
c.1257_1259del (p.Val420del)
c.1260_1262del (p.Val421del)
c.939_941del (p.Val314del)
c.1104_1106del (p.Val369del)
c.*604_*606del (n.*604_*606del)
c.771_773del (p.Val258del)
c.1230_1232del (p.Val411del)
c.1122_1124del (p.Val375del)
c.1275_1277del (p.Val426del)
c.1227_1229del (p.Val410del)
c.1110_1112del (p.Val371del)
c.1092_1094del (p.Val365del)
3g.69964946G>ACA2490634MITFc.1213G>A (p.Val405Ile)
c.1210G>A (p.Val404Ile)
n.1435G>A
c.1186G>A (p.Val396Ile)
c.*24G>A (n.*24G>A)
c.1279G>A (p.Val427Ile)
c.958G>A (p.Val320Ile)
c.1258G>A (p.Val420Ile)
c.1261G>A (p.Val421Ile)
c.940G>A (p.Val314Ile)
c.1105G>A (p.Val369Ile)
c.*605G>A (n.*605G>A)
c.772G>A (p.Val258Ile)
c.1231G>A (p.Val411Ile)
c.1123G>A (p.Val375Ile)
c.1276G>A (p.Val426Ile)
c.1228G>A (p.Val410Ile)
c.1111G>A (p.Val371Ile)
c.1093G>A (p.Val365Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964946G>CCA353559510MITFc.1213G>C (p.Val405Leu)
c.1210G>C (p.Val404Leu)
n.1435G>C
c.1186G>C (p.Val396Leu)
c.*24G>C (n.*24G>C)
c.1279G>C (p.Val427Leu)
c.958G>C (p.Val320Leu)
c.1258G>C (p.Val420Leu)
c.1261G>C (p.Val421Leu)
c.940G>C (p.Val314Leu)
c.1105G>C (p.Val369Leu)
c.*605G>C (n.*605G>C)
c.772G>C (p.Val258Leu)
c.1231G>C (p.Val411Leu)
c.1123G>C (p.Val375Leu)
c.1276G>C (p.Val426Leu)
c.1228G>C (p.Val410Leu)
c.1111G>C (p.Val371Leu)
c.1093G>C (p.Val365Leu)
3g.69964946G=CA1373414047MITFc.1213G= (p.Val405=)
c.1210G= (p.Val404=)
n.1435G=
c.1186G= (p.Val396=)
c.*24G= (n.*24G=)
c.1279G= (p.Val427=)
c.958G= (p.Val320=)
c.1258G= (p.Val420=)
c.1261G= (p.Val421=)
c.940G= (p.Val314=)
c.1105G= (p.Val369=)
c.*605G= (n.*605G=)
c.772G= (p.Val258=)
c.1231G= (p.Val411=)
c.1123G= (p.Val375=)
c.1276G= (p.Val426=)
c.1228G= (p.Val410=)
c.1111G= (p.Val371=)
c.1093G= (p.Val365=)
3g.69964946G>TCA353559509MITFc.1213G>T (p.Val405Phe)
c.1210G>T (p.Val404Phe)
n.1435G>T
c.1186G>T (p.Val396Phe)
c.*24G>T (n.*24G>T)
c.1279G>T (p.Val427Phe)
c.958G>T (p.Val320Phe)
c.1258G>T (p.Val420Phe)
c.1261G>T (p.Val421Phe)
c.940G>T (p.Val314Phe)
c.1105G>T (p.Val369Phe)
c.*605G>T (n.*605G>T)
c.772G>T (p.Val258Phe)
c.1231G>T (p.Val411Phe)
c.1123G>T (p.Val375Phe)
c.1276G>T (p.Val426Phe)
c.1228G>T (p.Val410Phe)
c.1111G>T (p.Val371Phe)
c.1093G>T (p.Val365Phe)
3g.69964947T>ACA353559511MITFc.1214T>A (p.Val405Asp)
c.1211T>A (p.Val404Asp)
n.1436T>A
c.1187T>A (p.Val396Asp)
c.*25T>A (n.*25T>A)
c.1280T>A (p.Val427Asp)
c.959T>A (p.Val320Asp)
c.1259T>A (p.Val420Asp)
c.1262T>A (p.Val421Asp)
c.941T>A (p.Val314Asp)
c.1106T>A (p.Val369Asp)
c.*606T>A (n.*606T>A)
c.773T>A (p.Val258Asp)
c.1232T>A (p.Val411Asp)
c.1124T>A (p.Val375Asp)
c.1277T>A (p.Val426Asp)
c.1229T>A (p.Val410Asp)
c.1112T>A (p.Val371Asp)
c.1094T>A (p.Val365Asp)
3g.69964947T>CCA2490635MITFc.1214T>C (p.Val405Ala)
c.1211T>C (p.Val404Ala)
n.1436T>C
c.1187T>C (p.Val396Ala)
c.*25T>C (n.*25T>C)
c.1280T>C (p.Val427Ala)
c.959T>C (p.Val320Ala)
c.1259T>C (p.Val420Ala)
c.1262T>C (p.Val421Ala)
c.941T>C (p.Val314Ala)
c.1106T>C (p.Val369Ala)
c.*606T>C (n.*606T>C)
c.773T>C (p.Val258Ala)
c.1232T>C (p.Val411Ala)
c.1124T>C (p.Val375Ala)
c.1277T>C (p.Val426Ala)
c.1229T>C (p.Val410Ala)
c.1112T>C (p.Val371Ala)
c.1094T>C (p.Val365Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964947T>GCA353559512MITFc.1214T>G (p.Val405Gly)
c.1211T>G (p.Val404Gly)
n.1436T>G
c.1187T>G (p.Val396Gly)
c.*25T>G (n.*25T>G)
c.1280T>G (p.Val427Gly)
c.959T>G (p.Val320Gly)
c.1259T>G (p.Val420Gly)
c.1262T>G (p.Val421Gly)
c.941T>G (p.Val314Gly)
c.1106T>G (p.Val369Gly)
c.*606T>G (n.*606T>G)
c.773T>G (p.Val258Gly)
c.1232T>G (p.Val411Gly)
c.1124T>G (p.Val375Gly)
c.1277T>G (p.Val426Gly)
c.1229T>G (p.Val410Gly)
c.1112T>G (p.Val371Gly)
c.1094T>G (p.Val365Gly)
3g.69964947T=CA1373414048MITFc.1214T= (p.Val405=)
c.1211T= (p.Val404=)
n.1436T=
c.1187T= (p.Val396=)
c.*25T= (n.*25T=)
c.1280T= (p.Val427=)
c.959T= (p.Val320=)
c.1259T= (p.Val420=)
c.1262T= (p.Val421=)
c.941T= (p.Val314=)
c.1106T= (p.Val369=)
c.*606T= (n.*606T=)
c.773T= (p.Val258=)
c.1232T= (p.Val411=)
c.1124T= (p.Val375=)
c.1277T= (p.Val426=)
c.1229T= (p.Val410=)
c.1112T= (p.Val371=)
c.1094T= (p.Val365=)
3g.69964948T>ACA434433613MITFc.1215T>A (p.Val405=)
c.1212T>A (p.Val404=)
n.1437T>A
c.1188T>A (p.Val396=)
c.*26T>A (n.*26T>A)
c.1281T>A (p.Val427=)
c.960T>A (p.Val320=)
c.1260T>A (p.Val420=)
c.1263T>A (p.Val421=)
c.942T>A (p.Val314=)
c.1107T>A (p.Val369=)
c.*607T>A (n.*607T>A)
c.774T>A (p.Val258=)
c.1233T>A (p.Val411=)
c.1125T>A (p.Val375=)
c.1278T>A (p.Val426=)
c.1230T>A (p.Val410=)
c.1113T>A (p.Val371=)
c.1095T>A (p.Val365=)
3g.69964948T>CCA77003518MITFc.1215T>C (p.Val405=)
c.1212T>C (p.Val404=)
n.1437T>C
c.1188T>C (p.Val396=)
c.*26T>C (n.*26T>C)
c.1281T>C (p.Val427=)
c.960T>C (p.Val320=)
c.1260T>C (p.Val420=)
c.1263T>C (p.Val421=)
c.942T>C (p.Val314=)
c.1107T>C (p.Val369=)
c.*607T>C (n.*607T>C)
c.774T>C (p.Val258=)
c.1233T>C (p.Val411=)
c.1125T>C (p.Val375=)
c.1278T>C (p.Val426=)
c.1230T>C (p.Val410=)
c.1113T>C (p.Val371=)
c.1095T>C (p.Val365=)
 dbSNP gnomAD v4
3g.69964948T>GCA434433614MITFc.1215T>G (p.Val405=)
c.1212T>G (p.Val404=)
n.1437T>G
c.1188T>G (p.Val396=)
c.*26T>G (n.*26T>G)
c.1281T>G (p.Val427=)
c.960T>G (p.Val320=)
c.1260T>G (p.Val420=)
c.1263T>G (p.Val421=)
c.942T>G (p.Val314=)
c.1107T>G (p.Val369=)
c.*607T>G (n.*607T>G)
c.774T>G (p.Val258=)
c.1233T>G (p.Val411=)
c.1125T>G (p.Val375=)
c.1278T>G (p.Val426=)
c.1230T>G (p.Val410=)
c.1113T>G (p.Val371=)
c.1095T>G (p.Val365=)
3g.69964948T=CA1373414050MITFc.1215T= (p.Val405=)
c.1212T= (p.Val404=)
n.1437T=
c.1188T= (p.Val396=)
c.*26T= (n.*26T=)
c.1281T= (p.Val427=)
c.960T= (p.Val320=)
c.1260T= (p.Val420=)
c.1263T= (p.Val421=)
c.942T= (p.Val314=)
c.1107T= (p.Val369=)
c.*607T= (n.*607T=)
c.774T= (p.Val258=)
c.1233T= (p.Val411=)
c.1125T= (p.Val375=)
c.1278T= (p.Val426=)
c.1230T= (p.Val410=)
c.1113T= (p.Val371=)
c.1095T= (p.Val365=)
3g.69964948_69964949insACCCA2502980156MITFc.1215_1216insACC (p.Val405_Leu406insThr)
c.1212_1213insACC (p.Val404_Leu405insThr)
n.1437_1438insACC
c.1188_1189insACC (p.Val396_Leu397insThr)
c.*26_*27insACC (n.*26_*27insACC)
c.1281_1282insACC (p.Val427_Leu428insThr)
c.960_961insACC (p.Val320_Leu321insThr)
c.1260_1261insACC (p.Val420_Leu421insThr)
c.1263_1264insACC (p.Val421_Leu422insThr)
c.942_943insACC (p.Val314_Leu315insThr)
c.1107_1108insACC (p.Val369_Leu370insThr)
c.*607_*608insACC (n.*607_*608insACC)
c.774_775insACC (p.Val258_Leu259insThr)
c.1233_1234insACC (p.Val411_Leu412insThr)
c.1125_1126insACC (p.Val375_Leu376insThr)
c.1278_1279insACC (p.Val426_Leu427insThr)
c.1230_1231insACC (p.Val410_Leu411insThr)
c.1113_1114insACC (p.Val371_Leu372insThr)
c.1095_1096insACC (p.Val365_Leu366insThr)
3g.69964949C>ACA2490636MITFc.1216C>A (p.Leu406Ile)
c.1213C>A (p.Leu405Ile)
n.1438C>A
c.1189C>A (p.Leu397Ile)
c.*27C>A (n.*27C>A)
c.1282C>A (p.Leu428Ile)
c.961C>A (p.Leu321Ile)
c.1261C>A (p.Leu421Ile)
c.1264C>A (p.Leu422Ile)
c.943C>A (p.Leu315Ile)
c.1108C>A (p.Leu370Ile)
c.*608C>A (n.*608C>A)
c.775C>A (p.Leu259Ile)
c.1234C>A (p.Leu412Ile)
c.1126C>A (p.Leu376Ile)
c.1279C>A (p.Leu427Ile)
c.1231C>A (p.Leu411Ile)
c.1114C>A (p.Leu372Ile)
c.1096C>A (p.Leu366Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964949C=CA1373414054MITFc.1216C= (p.Leu406=)
c.1213C= (p.Leu405=)
n.1438C=
c.1189C= (p.Leu397=)
c.*27C= (n.*27C=)
c.1282C= (p.Leu428=)
c.961C= (p.Leu321=)
c.1261C= (p.Leu421=)
c.1264C= (p.Leu422=)
c.943C= (p.Leu315=)
c.1108C= (p.Leu370=)
c.*608C= (n.*608C=)
c.775C= (p.Leu259=)
c.1234C= (p.Leu412=)
c.1126C= (p.Leu376=)
c.1279C= (p.Leu427=)
c.1231C= (p.Leu411=)
c.1114C= (p.Leu372=)
c.1096C= (p.Leu366=)
3g.69964949C>GCA353559513MITFc.1216C>G (p.Leu406Val)
c.1213C>G (p.Leu405Val)
n.1438C>G
c.1189C>G (p.Leu397Val)
c.*27C>G (n.*27C>G)
c.1282C>G (p.Leu428Val)
c.961C>G (p.Leu321Val)
c.1261C>G (p.Leu421Val)
c.1264C>G (p.Leu422Val)
c.943C>G (p.Leu315Val)
c.1108C>G (p.Leu370Val)
c.*608C>G (n.*608C>G)
c.775C>G (p.Leu259Val)
c.1234C>G (p.Leu412Val)
c.1126C>G (p.Leu376Val)
c.1279C>G (p.Leu427Val)
c.1231C>G (p.Leu411Val)
c.1114C>G (p.Leu372Val)
c.1096C>G (p.Leu366Val)
3g.69964949C>TCA353559514MITFc.1216C>T (p.Leu406Phe)
c.1213C>T (p.Leu405Phe)
n.1438C>T
c.1189C>T (p.Leu397Phe)
c.*27C>T (n.*27C>T)
c.1282C>T (p.Leu428Phe)
c.961C>T (p.Leu321Phe)
c.1261C>T (p.Leu421Phe)
c.1264C>T (p.Leu422Phe)
c.943C>T (p.Leu315Phe)
c.1108C>T (p.Leu370Phe)
c.*608C>T (n.*608C>T)
c.775C>T (p.Leu259Phe)
c.1234C>T (p.Leu412Phe)
c.1126C>T (p.Leu376Phe)
c.1279C>T (p.Leu427Phe)
c.1231C>T (p.Leu411Phe)
c.1114C>T (p.Leu372Phe)
c.1096C>T (p.Leu366Phe)
3g.69964950T>ACA353559515MITFc.1217T>A (p.Leu406His)
c.1214T>A (p.Leu405His)
n.1439T>A
c.1190T>A (p.Leu397His)
c.*28T>A (n.*28T>A)
c.1283T>A (p.Leu428His)
c.962T>A (p.Leu321His)
c.1262T>A (p.Leu421His)
c.1265T>A (p.Leu422His)
c.944T>A (p.Leu315His)
c.1109T>A (p.Leu370His)
c.*609T>A (n.*609T>A)
c.776T>A (p.Leu259His)
c.1235T>A (p.Leu412His)
c.1127T>A (p.Leu376His)
c.1280T>A (p.Leu427His)
c.1232T>A (p.Leu411His)
c.1115T>A (p.Leu372His)
c.1097T>A (p.Leu366His)
3g.69964950T>CCA353559516MITFc.1217T>C (p.Leu406Pro)
c.1214T>C (p.Leu405Pro)
n.1439T>C
c.1190T>C (p.Leu397Pro)
c.*28T>C (n.*28T>C)
c.1283T>C (p.Leu428Pro)
c.962T>C (p.Leu321Pro)
c.1262T>C (p.Leu421Pro)
c.1265T>C (p.Leu422Pro)
c.944T>C (p.Leu315Pro)
c.1109T>C (p.Leu370Pro)
c.*609T>C (n.*609T>C)
c.776T>C (p.Leu259Pro)
c.1235T>C (p.Leu412Pro)
c.1127T>C (p.Leu376Pro)
c.1280T>C (p.Leu427Pro)
c.1232T>C (p.Leu411Pro)
c.1115T>C (p.Leu372Pro)
c.1097T>C (p.Leu366Pro)
 dbSNP
3g.69964950T>GCA353559517MITFc.1217T>G (p.Leu406Arg)
c.1214T>G (p.Leu405Arg)
n.1439T>G
c.1190T>G (p.Leu397Arg)
c.*28T>G (n.*28T>G)
c.1283T>G (p.Leu428Arg)
c.962T>G (p.Leu321Arg)
c.1262T>G (p.Leu421Arg)
c.1265T>G (p.Leu422Arg)
c.944T>G (p.Leu315Arg)
c.1109T>G (p.Leu370Arg)
c.*609T>G (n.*609T>G)
c.776T>G (p.Leu259Arg)
c.1235T>G (p.Leu412Arg)
c.1127T>G (p.Leu376Arg)
c.1280T>G (p.Leu427Arg)
c.1232T>G (p.Leu411Arg)
c.1115T>G (p.Leu372Arg)
c.1097T>G (p.Leu366Arg)
3g.69964950T=CA1373414057MITFc.1217T= (p.Leu406=)
c.1214T= (p.Leu405=)
n.1439T=
c.1190T= (p.Leu397=)
c.*28T= (n.*28T=)
c.1283T= (p.Leu428=)
c.962T= (p.Leu321=)
c.1262T= (p.Leu421=)
c.1265T= (p.Leu422=)
c.944T= (p.Leu315=)
c.1109T= (p.Leu370=)
c.*609T= (n.*609T=)
c.776T= (p.Leu259=)
c.1235T= (p.Leu412=)
c.1127T= (p.Leu376=)
c.1280T= (p.Leu427=)
c.1232T= (p.Leu411=)
c.1115T= (p.Leu372=)
c.1097T= (p.Leu366=)
3g.69964951T>ACA434433619MITFc.1218T>A (p.Leu406=)
c.1215T>A (p.Leu405=)
n.1440T>A
c.1191T>A (p.Leu397=)
c.*29T>A (n.*29T>A)
c.1284T>A (p.Leu428=)
c.963T>A (p.Leu321=)
c.1263T>A (p.Leu421=)
c.1266T>A (p.Leu422=)
c.945T>A (p.Leu315=)
c.1110T>A (p.Leu370=)
c.*610T>A (n.*610T>A)
c.777T>A (p.Leu259=)
c.1236T>A (p.Leu412=)
c.1128T>A (p.Leu376=)
c.1281T>A (p.Leu427=)
c.1233T>A (p.Leu411=)
c.1116T>A (p.Leu372=)
c.1098T>A (p.Leu366=)
3g.69964951T>CCA434433617MITFc.1218T>C (p.Leu406=)
c.1215T>C (p.Leu405=)
n.1440T>C
c.1191T>C (p.Leu397=)
c.*29T>C (n.*29T>C)
c.1284T>C (p.Leu428=)
c.963T>C (p.Leu321=)
c.1263T>C (p.Leu421=)
c.1266T>C (p.Leu422=)
c.945T>C (p.Leu315=)
c.1110T>C (p.Leu370=)
c.*610T>C (n.*610T>C)
c.777T>C (p.Leu259=)
c.1236T>C (p.Leu412=)
c.1128T>C (p.Leu376=)
c.1281T>C (p.Leu427=)
c.1233T>C (p.Leu411=)
c.1116T>C (p.Leu372=)
c.1098T>C (p.Leu366=)
3g.69964951T>GCA434433618MITFc.1218T>G (p.Leu406=)
c.1215T>G (p.Leu405=)
n.1440T>G
c.1191T>G (p.Leu397=)
c.*29T>G (n.*29T>G)
c.1284T>G (p.Leu428=)
c.963T>G (p.Leu321=)
c.1263T>G (p.Leu421=)
c.1266T>G (p.Leu422=)
c.945T>G (p.Leu315=)
c.1110T>G (p.Leu370=)
c.*610T>G (n.*610T>G)
c.777T>G (p.Leu259=)
c.1236T>G (p.Leu412=)
c.1128T>G (p.Leu376=)
c.1281T>G (p.Leu427=)
c.1233T>G (p.Leu411=)
c.1116T>G (p.Leu372=)
c.1098T>G (p.Leu366=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964951T=CA1373414060MITFc.1218T= (p.Leu406=)
c.1215T= (p.Leu405=)
n.1440T=
c.1191T= (p.Leu397=)
c.*29T= (n.*29T=)
c.1284T= (p.Leu428=)
c.963T= (p.Leu321=)
c.1263T= (p.Leu421=)
c.1266T= (p.Leu422=)
c.945T= (p.Leu315=)
c.1110T= (p.Leu370=)
c.*610T= (n.*610T=)
c.777T= (p.Leu259=)
c.1236T= (p.Leu412=)
c.1128T= (p.Leu376=)
c.1281T= (p.Leu427=)
c.1233T= (p.Leu411=)
c.1116T= (p.Leu372=)
c.1098T= (p.Leu366=)
3g.69964952G>ACA353559518MITFc.1219G>A (p.Glu407Lys)
c.1216G>A (p.Glu406Lys)
n.1441G>A
c.1192G>A (p.Glu398Lys)
c.*30G>A (n.*30G>A)
c.1285G>A (p.Glu429Lys)
c.964G>A (p.Glu322Lys)
c.1264G>A (p.Glu422Lys)
c.1267G>A (p.Glu423Lys)
c.946G>A (p.Glu316Lys)
c.1111G>A (p.Glu371Lys)
c.*611G>A (n.*611G>A)
c.778G>A (p.Glu260Lys)
c.1237G>A (p.Glu413Lys)
c.1129G>A (p.Glu377Lys)
c.1282G>A (p.Glu428Lys)
c.1234G>A (p.Glu412Lys)
c.1117G>A (p.Glu373Lys)
c.1099G>A (p.Glu367Lys)
3g.69964952G>CCA2490637MITFc.1219G>C (p.Glu407Gln)
c.1216G>C (p.Glu406Gln)
n.1441G>C
c.1192G>C (p.Glu398Gln)
c.*30G>C (n.*30G>C)
c.1285G>C (p.Glu429Gln)
c.964G>C (p.Glu322Gln)
c.1264G>C (p.Glu422Gln)
c.1267G>C (p.Glu423Gln)
c.946G>C (p.Glu316Gln)
c.1111G>C (p.Glu371Gln)
c.*611G>C (n.*611G>C)
c.778G>C (p.Glu260Gln)
c.1237G>C (p.Glu413Gln)
c.1129G>C (p.Glu377Gln)
c.1282G>C (p.Glu428Gln)
c.1234G>C (p.Glu412Gln)
c.1117G>C (p.Glu373Gln)
c.1099G>C (p.Glu367Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964952G=CA1373414063MITFc.1219G= (p.Glu407=)
c.1216G= (p.Glu406=)
n.1441G=
c.1192G= (p.Glu398=)
c.*30G= (n.*30G=)
c.1285G= (p.Glu429=)
c.964G= (p.Glu322=)
c.1264G= (p.Glu422=)
c.1267G= (p.Glu423=)
c.946G= (p.Glu316=)
c.1111G= (p.Glu371=)
c.*611G= (n.*611G=)
c.778G= (p.Glu260=)
c.1237G= (p.Glu413=)
c.1129G= (p.Glu377=)
c.1282G= (p.Glu428=)
c.1234G= (p.Glu412=)
c.1117G= (p.Glu373=)
c.1099G= (p.Glu367=)
3g.69964952G>TCA353559519MITFc.1219G>T (p.Glu407Ter)
c.1216G>T (p.Glu406Ter)
n.1441G>T
c.1192G>T (p.Glu398Ter)
c.*30G>T (n.*30G>T)
c.1285G>T (p.Glu429Ter)
c.964G>T (p.Glu322Ter)
c.1264G>T (p.Glu422Ter)
c.1267G>T (p.Glu423Ter)
c.946G>T (p.Glu316Ter)
c.1111G>T (p.Glu371Ter)
c.*611G>T (n.*611G>T)
c.778G>T (p.Glu260Ter)
c.1237G>T (p.Glu413Ter)
c.1129G>T (p.Glu377Ter)
c.1282G>T (p.Glu428Ter)
c.1234G>T (p.Glu412Ter)
c.1117G>T (p.Glu373Ter)
c.1099G>T (p.Glu367Ter)
3g.69964953A>CCA353559522MITFc.1220A>C (p.Glu407Ala)
c.1217A>C (p.Glu406Ala)
n.1442A>C
c.1193A>C (p.Glu398Ala)
c.*31A>C (n.*31A>C)
c.1286A>C (p.Glu429Ala)
c.965A>C (p.Glu322Ala)
c.1265A>C (p.Glu422Ala)
c.1268A>C (p.Glu423Ala)
c.947A>C (p.Glu316Ala)
c.1112A>C (p.Glu371Ala)
c.*612A>C (n.*612A>C)
c.779A>C (p.Glu260Ala)
c.1238A>C (p.Glu413Ala)
c.1130A>C (p.Glu377Ala)
c.1283A>C (p.Glu428Ala)
c.1235A>C (p.Glu412Ala)
c.1118A>C (p.Glu373Ala)
c.1100A>C (p.Glu367Ala)
3g.69964953A>GCA353559521MITFc.1220A>G (p.Glu407Gly)
c.1217A>G (p.Glu406Gly)
n.1442A>G
c.1193A>G (p.Glu398Gly)
c.*31A>G (n.*31A>G)
c.1286A>G (p.Glu429Gly)
c.965A>G (p.Glu322Gly)
c.1265A>G (p.Glu422Gly)
c.1268A>G (p.Glu423Gly)
c.947A>G (p.Glu316Gly)
c.1112A>G (p.Glu371Gly)
c.*612A>G (n.*612A>G)
c.779A>G (p.Glu260Gly)
c.1238A>G (p.Glu413Gly)
c.1130A>G (p.Glu377Gly)
c.1283A>G (p.Glu428Gly)
c.1235A>G (p.Glu412Gly)
c.1118A>G (p.Glu373Gly)
c.1100A>G (p.Glu367Gly)
3g.69964953A>TCA353559520MITFc.1220A>T (p.Glu407Val)
c.1217A>T (p.Glu406Val)
n.1442A>T
c.1193A>T (p.Glu398Val)
c.*31A>T (n.*31A>T)
c.1286A>T (p.Glu429Val)
c.965A>T (p.Glu322Val)
c.1265A>T (p.Glu422Val)
c.1268A>T (p.Glu423Val)
c.947A>T (p.Glu316Val)
c.1112A>T (p.Glu371Val)
c.*612A>T (n.*612A>T)
c.779A>T (p.Glu260Val)
c.1238A>T (p.Glu413Val)
c.1130A>T (p.Glu377Val)
c.1283A>T (p.Glu428Val)
c.1235A>T (p.Glu412Val)
c.1118A>T (p.Glu373Val)
c.1100A>T (p.Glu367Val)
3g.69964954G>ACA434433624MITFc.1221G>A (p.Glu407=)
c.1218G>A (p.Glu406=)
n.1443G>A
c.1194G>A (p.Glu398=)
c.*32G>A (n.*32G>A)
c.1287G>A (p.Glu429=)
c.966G>A (p.Glu322=)
c.1266G>A (p.Glu422=)
c.1269G>A (p.Glu423=)
c.948G>A (p.Glu316=)
c.1113G>A (p.Glu371=)
c.*613G>A (n.*613G>A)
c.780G>A (p.Glu260=)
c.1239G>A (p.Glu413=)
c.1131G>A (p.Glu377=)
c.1284G>A (p.Glu428=)
c.1236G>A (p.Glu412=)
c.1119G>A (p.Glu373=)
c.1101G>A (p.Glu367=)
 COSMIC COSMIC COSMIC COSMIC
3g.69964954G>CCA353559523MITFc.1221G>C (p.Glu407Asp)
c.1218G>C (p.Glu406Asp)
n.1443G>C
c.1194G>C (p.Glu398Asp)
c.*32G>C (n.*32G>C)
c.1287G>C (p.Glu429Asp)
c.966G>C (p.Glu322Asp)
c.1266G>C (p.Glu422Asp)
c.1269G>C (p.Glu423Asp)
c.948G>C (p.Glu316Asp)
c.1113G>C (p.Glu371Asp)
c.*613G>C (n.*613G>C)
c.780G>C (p.Glu260Asp)
c.1239G>C (p.Glu413Asp)
c.1131G>C (p.Glu377Asp)
c.1284G>C (p.Glu428Asp)
c.1236G>C (p.Glu412Asp)
c.1119G>C (p.Glu373Asp)
c.1101G>C (p.Glu367Asp)
3g.69964954G>TCA353559524MITFc.1221G>T (p.Glu407Asp)
c.1218G>T (p.Glu406Asp)
n.1443G>T
c.1194G>T (p.Glu398Asp)
c.*32G>T (n.*32G>T)
c.1287G>T (p.Glu429Asp)
c.966G>T (p.Glu322Asp)
c.1266G>T (p.Glu422Asp)
c.1269G>T (p.Glu423Asp)
c.948G>T (p.Glu316Asp)
c.1113G>T (p.Glu371Asp)
c.*613G>T (n.*613G>T)
c.780G>T (p.Glu260Asp)
c.1239G>T (p.Glu413Asp)
c.1131G>T (p.Glu377Asp)
c.1284G>T (p.Glu428Asp)
c.1236G>T (p.Glu412Asp)
c.1119G>T (p.Glu373Asp)
c.1101G>T (p.Glu367Asp)
3g.69964955A>CCA353559525MITFc.1222A>C (p.Asn408His)
c.1219A>C (p.Asn407His)
n.1444A>C
c.1195A>C (p.Asn399His)
c.*33A>C (n.*33A>C)
c.1288A>C (p.Asn430His)
c.967A>C (p.Asn323His)
c.1267A>C (p.Asn423His)
c.1270A>C (p.Asn424His)
c.949A>C (p.Asn317His)
c.1114A>C (p.Asn372His)
c.*614A>C (n.*614A>C)
c.781A>C (p.Asn261His)
c.1240A>C (p.Asn414His)
c.1132A>C (p.Asn378His)
c.1285A>C (p.Asn429His)
c.1237A>C (p.Asn413His)
c.1120A>C (p.Asn374His)
c.1102A>C (p.Asn368His)
3g.69964955A>GCA353559526MITFc.1222A>G (p.Asn408Asp)
c.1219A>G (p.Asn407Asp)
n.1444A>G
c.1195A>G (p.Asn399Asp)
c.*33A>G (n.*33A>G)
c.1288A>G (p.Asn430Asp)
c.967A>G (p.Asn323Asp)
c.1267A>G (p.Asn423Asp)
c.1270A>G (p.Asn424Asp)
c.949A>G (p.Asn317Asp)
c.1114A>G (p.Asn372Asp)
c.*614A>G (n.*614A>G)
c.781A>G (p.Asn261Asp)
c.1240A>G (p.Asn414Asp)
c.1132A>G (p.Asn378Asp)
c.1285A>G (p.Asn429Asp)
c.1237A>G (p.Asn413Asp)
c.1120A>G (p.Asn374Asp)
c.1102A>G (p.Asn368Asp)
3g.69964955A>TCA353559527MITFc.1222A>T (p.Asn408Tyr)
c.1219A>T (p.Asn407Tyr)
n.1444A>T
c.1195A>T (p.Asn399Tyr)
c.*33A>T (n.*33A>T)
c.1288A>T (p.Asn430Tyr)
c.967A>T (p.Asn323Tyr)
c.1267A>T (p.Asn423Tyr)
c.1270A>T (p.Asn424Tyr)
c.949A>T (p.Asn317Tyr)
c.1114A>T (p.Asn372Tyr)
c.*614A>T (n.*614A>T)
c.781A>T (p.Asn261Tyr)
c.1240A>T (p.Asn414Tyr)
c.1132A>T (p.Asn378Tyr)
c.1285A>T (p.Asn429Tyr)
c.1237A>T (p.Asn413Tyr)
c.1120A>T (p.Asn374Tyr)
c.1102A>T (p.Asn368Tyr)
3g.69964956A=CA1373414065MITFc.1223A= (p.Asn408=)
c.1220A= (p.Asn407=)
n.1445A=
c.1196A= (p.Asn399=)
c.*34A= (n.*34A=)
c.1289A= (p.Asn430=)
c.968A= (p.Asn323=)
c.1268A= (p.Asn423=)
c.1271A= (p.Asn424=)
c.950A= (p.Asn317=)
c.1115A= (p.Asn372=)
c.*615A= (n.*615A=)
c.782A= (p.Asn261=)
c.1241A= (p.Asn414=)
c.1133A= (p.Asn378=)
c.1286A= (p.Asn429=)
c.1238A= (p.Asn413=)
c.1121A= (p.Asn374=)
c.1103A= (p.Asn368=)
3g.69964956A>CCA353559528MITFc.1223A>C (p.Asn408Thr)
c.1220A>C (p.Asn407Thr)
n.1445A>C
c.1196A>C (p.Asn399Thr)
c.*34A>C (n.*34A>C)
c.1289A>C (p.Asn430Thr)
c.968A>C (p.Asn323Thr)
c.1268A>C (p.Asn423Thr)
c.1271A>C (p.Asn424Thr)
c.950A>C (p.Asn317Thr)
c.1115A>C (p.Asn372Thr)
c.*615A>C (n.*615A>C)
c.782A>C (p.Asn261Thr)
c.1241A>C (p.Asn414Thr)
c.1133A>C (p.Asn378Thr)
c.1286A>C (p.Asn429Thr)
c.1238A>C (p.Asn413Thr)
c.1121A>C (p.Asn374Thr)
c.1103A>C (p.Asn368Thr)
 COSMIC
3g.69964956A>GCA353559529MITFc.1223A>G (p.Asn408Ser)
c.1220A>G (p.Asn407Ser)
n.1445A>G
c.1196A>G (p.Asn399Ser)
c.*34A>G (n.*34A>G)
c.1289A>G (p.Asn430Ser)
c.968A>G (p.Asn323Ser)
c.1268A>G (p.Asn423Ser)
c.1271A>G (p.Asn424Ser)
c.950A>G (p.Asn317Ser)
c.1115A>G (p.Asn372Ser)
c.*615A>G (n.*615A>G)
c.782A>G (p.Asn261Ser)
c.1241A>G (p.Asn414Ser)
c.1133A>G (p.Asn378Ser)
c.1286A>G (p.Asn429Ser)
c.1238A>G (p.Asn413Ser)
c.1121A>G (p.Asn374Ser)
c.1103A>G (p.Asn368Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964956A>TCA353559530MITFc.1223A>T (p.Asn408Ile)
c.1220A>T (p.Asn407Ile)
n.1445A>T
c.1196A>T (p.Asn399Ile)
c.*34A>T (n.*34A>T)
c.1289A>T (p.Asn430Ile)
c.968A>T (p.Asn323Ile)
c.1268A>T (p.Asn423Ile)
c.1271A>T (p.Asn424Ile)
c.950A>T (p.Asn317Ile)
c.1115A>T (p.Asn372Ile)
c.*615A>T (n.*615A>T)
c.782A>T (p.Asn261Ile)
c.1241A>T (p.Asn414Ile)
c.1133A>T (p.Asn378Ile)
c.1286A>T (p.Asn429Ile)
c.1238A>T (p.Asn413Ile)
c.1121A>T (p.Asn374Ile)
c.1103A>T (p.Asn368Ile)
3g.69964957C>ACA353559531MITFc.1224C>A (p.Asn408Lys)
c.1221C>A (p.Asn407Lys)
n.1446C>A
c.1197C>A (p.Asn399Lys)
c.*35C>A (n.*35C>A)
c.1290C>A (p.Asn430Lys)
c.969C>A (p.Asn323Lys)
c.1269C>A (p.Asn423Lys)
c.1272C>A (p.Asn424Lys)
c.951C>A (p.Asn317Lys)
c.1116C>A (p.Asn372Lys)
c.*616C>A (n.*616C>A)
c.783C>A (p.Asn261Lys)
c.1242C>A (p.Asn414Lys)
c.1134C>A (p.Asn378Lys)
c.1287C>A (p.Asn429Lys)
c.1239C>A (p.Asn413Lys)
c.1122C>A (p.Asn374Lys)
c.1104C>A (p.Asn368Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964957C=CA1373414070MITFc.1224C= (p.Asn408=)
c.1221C= (p.Asn407=)
n.1446C=
c.1197C= (p.Asn399=)
c.*35C= (n.*35C=)
c.1290C= (p.Asn430=)
c.969C= (p.Asn323=)
c.1269C= (p.Asn423=)
c.1272C= (p.Asn424=)
c.951C= (p.Asn317=)
c.1116C= (p.Asn372=)
c.*616C= (n.*616C=)
c.783C= (p.Asn261=)
c.1242C= (p.Asn414=)
c.1134C= (p.Asn378=)
c.1287C= (p.Asn429=)
c.1239C= (p.Asn413=)
c.1122C= (p.Asn374=)
c.1104C= (p.Asn368=)
3g.69964957C>GCA353559532MITFc.1224C>G (p.Asn408Lys)
c.1221C>G (p.Asn407Lys)
n.1446C>G
c.1197C>G (p.Asn399Lys)
c.*35C>G (n.*35C>G)
c.1290C>G (p.Asn430Lys)
c.969C>G (p.Asn323Lys)
c.1269C>G (p.Asn423Lys)
c.1272C>G (p.Asn424Lys)
c.951C>G (p.Asn317Lys)
c.1116C>G (p.Asn372Lys)
c.*616C>G (n.*616C>G)
c.783C>G (p.Asn261Lys)
c.1242C>G (p.Asn414Lys)
c.1134C>G (p.Asn378Lys)
c.1287C>G (p.Asn429Lys)
c.1239C>G (p.Asn413Lys)
c.1122C>G (p.Asn374Lys)
c.1104C>G (p.Asn368Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964957C>TCA77003519MITFc.1224C>T (p.Asn408=)
c.1221C>T (p.Asn407=)
n.1446C>T
c.1197C>T (p.Asn399=)
c.*35C>T (n.*35C>T)
c.1290C>T (p.Asn430=)
c.969C>T (p.Asn323=)
c.1269C>T (p.Asn423=)
c.1272C>T (p.Asn424=)
c.951C>T (p.Asn317=)
c.1116C>T (p.Asn372=)
c.*616C>T (n.*616C>T)
c.783C>T (p.Asn261=)
c.1242C>T (p.Asn414=)
c.1134C>T (p.Asn378=)
c.1287C>T (p.Asn429=)
c.1239C>T (p.Asn413=)
c.1122C>T (p.Asn374=)
c.1104C>T (p.Asn368=)
 dbSNP
3g.69964958T>ACA353559533MITFc.1225T>A (p.Cys409Ser)
c.1222T>A (p.Cys408Ser)
n.1447T>A
c.1198T>A (p.Cys400Ser)
c.*36T>A (n.*36T>A)
c.1291T>A (p.Cys431Ser)
c.970T>A (p.Cys324Ser)
c.1270T>A (p.Cys424Ser)
c.1273T>A (p.Cys425Ser)
c.952T>A (p.Cys318Ser)
c.1117T>A (p.Cys373Ser)
c.*617T>A (n.*617T>A)
c.784T>A (p.Cys262Ser)
c.1243T>A (p.Cys415Ser)
c.1135T>A (p.Cys379Ser)
c.1288T>A (p.Cys430Ser)
c.1240T>A (p.Cys414Ser)
c.1123T>A (p.Cys375Ser)
c.1105T>A (p.Cys369Ser)
3g.69964958T>CCA353559534MITFc.1225T>C (p.Cys409Arg)
c.1222T>C (p.Cys408Arg)
n.1447T>C
c.1198T>C (p.Cys400Arg)
c.*36T>C (n.*36T>C)
c.1291T>C (p.Cys431Arg)
c.970T>C (p.Cys324Arg)
c.1270T>C (p.Cys424Arg)
c.1273T>C (p.Cys425Arg)
c.952T>C (p.Cys318Arg)
c.1117T>C (p.Cys373Arg)
c.*617T>C (n.*617T>C)
c.784T>C (p.Cys262Arg)
c.1243T>C (p.Cys415Arg)
c.1135T>C (p.Cys379Arg)
c.1288T>C (p.Cys430Arg)
c.1240T>C (p.Cys414Arg)
c.1123T>C (p.Cys375Arg)
c.1105T>C (p.Cys369Arg)
3g.69964958T>GCA353559535MITFc.1225T>G (p.Cys409Gly)
c.1222T>G (p.Cys408Gly)
n.1447T>G
c.1198T>G (p.Cys400Gly)
c.*36T>G (n.*36T>G)
c.1291T>G (p.Cys431Gly)
c.970T>G (p.Cys324Gly)
c.1270T>G (p.Cys424Gly)
c.1273T>G (p.Cys425Gly)
c.952T>G (p.Cys318Gly)
c.1117T>G (p.Cys373Gly)
c.*617T>G (n.*617T>G)
c.784T>G (p.Cys262Gly)
c.1243T>G (p.Cys415Gly)
c.1135T>G (p.Cys379Gly)
c.1288T>G (p.Cys430Gly)
c.1240T>G (p.Cys414Gly)
c.1123T>G (p.Cys375Gly)
c.1105T>G (p.Cys369Gly)
 ClinVar
3g.69964958dupCA2499216979MITFc.1225dup (p.Cys409LeufsTer?)
c.1222dup (p.Cys408LeufsTer?)
n.1447dup
c.1198dup (p.Cys400LeufsTer?)
c.*36dup (n.*36dup)
c.1291dup (p.Cys431LeufsTer?)
c.970dup (p.Cys324LeufsTer?)
c.1270dup (p.Cys424LeufsTer?)
c.1273dup (p.Cys425LeufsTer?)
c.952dup (p.Cys318LeufsTer?)
c.1117dup (p.Cys373LeufsTer?)
c.*617dup (n.*617dup)
c.784dup (p.Cys262LeufsTer?)
c.1243dup (p.Cys415LeufsTer?)
c.1135dup (p.Cys379LeufsTer?)
c.1288dup (p.Cys430LeufsTer?)
c.1240dup (p.Cys414LeufsTer?)
c.1123dup (p.Cys375LeufsTer?)
c.1105dup (p.Cys369LeufsTer?)
 ClinVar dbSNP
3g.69964959G>ACA353559537MITFc.1226G>A (p.Cys409Tyr)
c.1223G>A (p.Cys408Tyr)
n.1448G>A
c.1199G>A (p.Cys400Tyr)
c.*37G>A (n.*37G>A)
c.1292G>A (p.Cys431Tyr)
c.971G>A (p.Cys324Tyr)
c.1271G>A (p.Cys424Tyr)
c.1274G>A (p.Cys425Tyr)
c.953G>A (p.Cys318Tyr)
c.1118G>A (p.Cys373Tyr)
c.*618G>A (n.*618G>A)
c.785G>A (p.Cys262Tyr)
c.1244G>A (p.Cys415Tyr)
c.1136G>A (p.Cys379Tyr)
c.1289G>A (p.Cys430Tyr)
c.1241G>A (p.Cys414Tyr)
c.1124G>A (p.Cys375Tyr)
c.1106G>A (p.Cys369Tyr)
 dbSNP
3g.69964959G>CCA353559538MITFc.1226G>C (p.Cys409Ser)
c.1223G>C (p.Cys408Ser)
n.1448G>C
c.1199G>C (p.Cys400Ser)
c.*37G>C (n.*37G>C)
c.1292G>C (p.Cys431Ser)
c.971G>C (p.Cys324Ser)
c.1271G>C (p.Cys424Ser)
c.1274G>C (p.Cys425Ser)
c.953G>C (p.Cys318Ser)
c.1118G>C (p.Cys373Ser)
c.*618G>C (n.*618G>C)
c.785G>C (p.Cys262Ser)
c.1244G>C (p.Cys415Ser)
c.1136G>C (p.Cys379Ser)
c.1289G>C (p.Cys430Ser)
c.1241G>C (p.Cys414Ser)
c.1124G>C (p.Cys375Ser)
c.1106G>C (p.Cys369Ser)
3g.69964959G>TCA353559536MITFc.1226G>T (p.Cys409Phe)
c.1223G>T (p.Cys408Phe)
n.1448G>T
c.1199G>T (p.Cys400Phe)
c.*37G>T (n.*37G>T)
c.1292G>T (p.Cys431Phe)
c.971G>T (p.Cys324Phe)
c.1271G>T (p.Cys424Phe)
c.1274G>T (p.Cys425Phe)
c.953G>T (p.Cys318Phe)
c.1118G>T (p.Cys373Phe)
c.*618G>T (n.*618G>T)
c.785G>T (p.Cys262Phe)
c.1244G>T (p.Cys415Phe)
c.1136G>T (p.Cys379Phe)
c.1289G>T (p.Cys430Phe)
c.1241G>T (p.Cys414Phe)
c.1124G>T (p.Cys375Phe)
c.1106G>T (p.Cys369Phe)
3g.69964960C>ACA353559540MITFc.1227C>A (p.Cys409Ter)
c.1224C>A (p.Cys408Ter)
n.1449C>A
c.1200C>A (p.Cys400Ter)
c.*38C>A (n.*38C>A)
c.1293C>A (p.Cys431Ter)
c.972C>A (p.Cys324Ter)
c.1272C>A (p.Cys424Ter)
c.1275C>A (p.Cys425Ter)
c.954C>A (p.Cys318Ter)
c.1119C>A (p.Cys373Ter)
c.*619C>A (n.*619C>A)
c.786C>A (p.Cys262Ter)
c.1245C>A (p.Cys415Ter)
c.1137C>A (p.Cys379Ter)
c.1290C>A (p.Cys430Ter)
c.1242C>A (p.Cys414Ter)
c.1125C>A (p.Cys375Ter)
c.1107C>A (p.Cys369Ter)
 dbSNP
3g.69964960C>GCA353559539MITFc.1227C>G (p.Cys409Trp)
c.1224C>G (p.Cys408Trp)
n.1449C>G
c.1200C>G (p.Cys400Trp)
c.*38C>G (n.*38C>G)
c.1293C>G (p.Cys431Trp)
c.972C>G (p.Cys324Trp)
c.1272C>G (p.Cys424Trp)
c.1275C>G (p.Cys425Trp)
c.954C>G (p.Cys318Trp)
c.1119C>G (p.Cys373Trp)
c.*619C>G (n.*619C>G)
c.786C>G (p.Cys262Trp)
c.1245C>G (p.Cys415Trp)
c.1137C>G (p.Cys379Trp)
c.1290C>G (p.Cys430Trp)
c.1242C>G (p.Cys414Trp)
c.1125C>G (p.Cys375Trp)
c.1107C>G (p.Cys369Trp)
3g.69964960C>TCA434433632MITFc.1227C>T (p.Cys409=)
c.1224C>T (p.Cys408=)
n.1449C>T
c.1200C>T (p.Cys400=)
c.*38C>T (n.*38C>T)
c.1293C>T (p.Cys431=)
c.972C>T (p.Cys324=)
c.1272C>T (p.Cys424=)
c.1275C>T (p.Cys425=)
c.954C>T (p.Cys318=)
c.1119C>T (p.Cys373=)
c.*619C>T (n.*619C>T)
c.786C>T (p.Cys262=)
c.1245C>T (p.Cys415=)
c.1137C>T (p.Cys379=)
c.1290C>T (p.Cys430=)
c.1242C>T (p.Cys414=)
c.1125C>T (p.Cys375=)
c.1107C>T (p.Cys369=)
 dbSNP
3g.69964961A>CCA353559543MITFc.1228A>C (p.Ser410Arg)
c.1225A>C (p.Ser409Arg)
n.1450A>C
c.1201A>C (p.Ser401Arg)
c.*39A>C (n.*39A>C)
c.1294A>C (p.Ser432Arg)
c.973A>C (p.Ser325Arg)
c.1273A>C (p.Ser425Arg)
c.1276A>C (p.Ser426Arg)
c.955A>C (p.Ser319Arg)
c.1120A>C (p.Ser374Arg)
c.*620A>C (n.*620A>C)
c.787A>C (p.Ser263Arg)
c.1246A>C (p.Ser416Arg)
c.1138A>C (p.Ser380Arg)
c.1291A>C (p.Ser431Arg)
c.1243A>C (p.Ser415Arg)
c.1126A>C (p.Ser376Arg)
c.1108A>C (p.Ser370Arg)
3g.69964961A>GCA353559541MITFc.1228A>G (p.Ser410Gly)
c.1225A>G (p.Ser409Gly)
n.1450A>G
c.1201A>G (p.Ser401Gly)
c.*39A>G (n.*39A>G)
c.1294A>G (p.Ser432Gly)
c.973A>G (p.Ser325Gly)
c.1273A>G (p.Ser425Gly)
c.1276A>G (p.Ser426Gly)
c.955A>G (p.Ser319Gly)
c.1120A>G (p.Ser374Gly)
c.*620A>G (n.*620A>G)
c.787A>G (p.Ser263Gly)
c.1246A>G (p.Ser416Gly)
c.1138A>G (p.Ser380Gly)
c.1291A>G (p.Ser431Gly)
c.1243A>G (p.Ser415Gly)
c.1126A>G (p.Ser376Gly)
c.1108A>G (p.Ser370Gly)
3g.69964961A>TCA353559542MITFc.1228A>T (p.Ser410Cys)
c.1225A>T (p.Ser409Cys)
n.1450A>T
c.1201A>T (p.Ser401Cys)
c.*39A>T (n.*39A>T)
c.1294A>T (p.Ser432Cys)
c.973A>T (p.Ser325Cys)
c.1273A>T (p.Ser425Cys)
c.1276A>T (p.Ser426Cys)
c.955A>T (p.Ser319Cys)
c.1120A>T (p.Ser374Cys)
c.*620A>T (n.*620A>T)
c.787A>T (p.Ser263Cys)
c.1246A>T (p.Ser416Cys)
c.1138A>T (p.Ser380Cys)
c.1291A>T (p.Ser431Cys)
c.1243A>T (p.Ser415Cys)
c.1126A>T (p.Ser376Cys)
c.1108A>T (p.Ser370Cys)
3g.69964962G>ACA353559544MITFc.1229G>A (p.Ser410Asn)
c.1226G>A (p.Ser409Asn)
n.1451G>A
c.1202G>A (p.Ser401Asn)
c.*40G>A (n.*40G>A)
c.1295G>A (p.Ser432Asn)
c.974G>A (p.Ser325Asn)
c.1274G>A (p.Ser425Asn)
c.1277G>A (p.Ser426Asn)
c.956G>A (p.Ser319Asn)
c.1121G>A (p.Ser374Asn)
c.*621G>A (n.*621G>A)
c.788G>A (p.Ser263Asn)
c.1247G>A (p.Ser416Asn)
c.1139G>A (p.Ser380Asn)
c.1292G>A (p.Ser431Asn)
c.1244G>A (p.Ser415Asn)
c.1127G>A (p.Ser376Asn)
c.1109G>A (p.Ser370Asn)
3g.69964962G>CCA353559545MITFc.1229G>C (p.Ser410Thr)
c.1226G>C (p.Ser409Thr)
n.1451G>C
c.1202G>C (p.Ser401Thr)
c.*40G>C (n.*40G>C)
c.1295G>C (p.Ser432Thr)
c.974G>C (p.Ser325Thr)
c.1274G>C (p.Ser425Thr)
c.1277G>C (p.Ser426Thr)
c.956G>C (p.Ser319Thr)
c.1121G>C (p.Ser374Thr)
c.*621G>C (n.*621G>C)
c.788G>C (p.Ser263Thr)
c.1247G>C (p.Ser416Thr)
c.1139G>C (p.Ser380Thr)
c.1292G>C (p.Ser431Thr)
c.1244G>C (p.Ser415Thr)
c.1127G>C (p.Ser376Thr)
c.1109G>C (p.Ser370Thr)
3g.69964962G=CA1373414074MITFc.1229G= (p.Ser410=)
c.1226G= (p.Ser409=)
n.1451G=
c.1202G= (p.Ser401=)
c.*40G= (n.*40G=)
c.1295G= (p.Ser432=)
c.974G= (p.Ser325=)
c.1274G= (p.Ser425=)
c.1277G= (p.Ser426=)
c.956G= (p.Ser319=)
c.1121G= (p.Ser374=)
c.*621G= (n.*621G=)
c.788G= (p.Ser263=)
c.1247G= (p.Ser416=)
c.1139G= (p.Ser380=)
c.1292G= (p.Ser431=)
c.1244G= (p.Ser415=)
c.1127G= (p.Ser376=)
c.1109G= (p.Ser370=)
3g.69964962G>TCA353559546MITFc.1229G>T (p.Ser410Ile)
c.1226G>T (p.Ser409Ile)
n.1451G>T
c.1202G>T (p.Ser401Ile)
c.*40G>T (n.*40G>T)
c.1295G>T (p.Ser432Ile)
c.974G>T (p.Ser325Ile)
c.1274G>T (p.Ser425Ile)
c.1277G>T (p.Ser426Ile)
c.956G>T (p.Ser319Ile)
c.1121G>T (p.Ser374Ile)
c.*621G>T (n.*621G>T)
c.788G>T (p.Ser263Ile)
c.1247G>T (p.Ser416Ile)
c.1139G>T (p.Ser380Ile)
c.1292G>T (p.Ser431Ile)
c.1244G>T (p.Ser415Ile)
c.1127G>T (p.Ser376Ile)
c.1109G>T (p.Ser370Ile)
 dbSNP gnomAD v4
3g.69964963C>ACA353559547MITFc.1230C>A (p.Ser410Arg)
c.1227C>A (p.Ser409Arg)
n.1452C>A
c.1203C>A (p.Ser401Arg)
c.*41C>A (n.*41C>A)
c.1296C>A (p.Ser432Arg)
c.975C>A (p.Ser325Arg)
c.1275C>A (p.Ser425Arg)
c.1278C>A (p.Ser426Arg)
c.957C>A (p.Ser319Arg)
c.1122C>A (p.Ser374Arg)
c.*622C>A (n.*622C>A)
c.789C>A (p.Ser263Arg)
c.1248C>A (p.Ser416Arg)
c.1140C>A (p.Ser380Arg)
c.1293C>A (p.Ser431Arg)
c.1245C>A (p.Ser415Arg)
c.1128C>A (p.Ser376Arg)
c.1110C>A (p.Ser370Arg)
3g.69964963C=CA1373414077MITFc.1230C= (p.Ser410=)
c.1227C= (p.Ser409=)
n.1452C=
c.1203C= (p.Ser401=)
c.*41C= (n.*41C=)
c.1296C= (p.Ser432=)
c.975C= (p.Ser325=)
c.1275C= (p.Ser425=)
c.1278C= (p.Ser426=)
c.957C= (p.Ser319=)
c.1122C= (p.Ser374=)
c.*622C= (n.*622C=)
c.789C= (p.Ser263=)
c.1248C= (p.Ser416=)
c.1140C= (p.Ser380=)
c.1293C= (p.Ser431=)
c.1245C= (p.Ser415=)
c.1128C= (p.Ser376=)
c.1110C= (p.Ser370=)
3g.69964963C>GCA353559548MITFc.1230C>G (p.Ser410Arg)
c.1227C>G (p.Ser409Arg)
n.1452C>G
c.1203C>G (p.Ser401Arg)
c.*41C>G (n.*41C>G)
c.1296C>G (p.Ser432Arg)
c.975C>G (p.Ser325Arg)
c.1275C>G (p.Ser425Arg)
c.1278C>G (p.Ser426Arg)
c.957C>G (p.Ser319Arg)
c.1122C>G (p.Ser374Arg)
c.*622C>G (n.*622C>G)
c.789C>G (p.Ser263Arg)
c.1248C>G (p.Ser416Arg)
c.1140C>G (p.Ser380Arg)
c.1293C>G (p.Ser431Arg)
c.1245C>G (p.Ser415Arg)
c.1128C>G (p.Ser376Arg)
c.1110C>G (p.Ser370Arg)
 dbSNP
3g.69964963C>TCA77003520MITFc.1230C>T (p.Ser410=)
c.1227C>T (p.Ser409=)
n.1452C>T
c.1203C>T (p.Ser401=)
c.*41C>T (n.*41C>T)
c.1296C>T (p.Ser432=)
c.975C>T (p.Ser325=)
c.1275C>T (p.Ser425=)
c.1278C>T (p.Ser426=)
c.957C>T (p.Ser319=)
c.1122C>T (p.Ser374=)
c.*622C>T (n.*622C>T)
c.789C>T (p.Ser263=)
c.1248C>T (p.Ser416=)
c.1140C>T (p.Ser380=)
c.1293C>T (p.Ser431=)
c.1245C>T (p.Ser415=)
c.1128C>T (p.Ser376=)
c.1110C>T (p.Ser370=)
 ClinVar dbSNP gnomAD v4
3g.69964964C>ACA353559549MITFc.1231C>A (p.Gln411Lys)
c.1228C>A (p.Gln410Lys)
n.1453C>A
c.1204C>A (p.Gln402Lys)
c.*42C>A (n.*42C>A)
c.1297C>A (p.Gln433Lys)
c.976C>A (p.Gln326Lys)
c.1276C>A (p.Gln426Lys)
c.1279C>A (p.Gln427Lys)
c.958C>A (p.Gln320Lys)
c.1123C>A (p.Gln375Lys)
c.*623C>A (n.*623C>A)
c.790C>A (p.Gln264Lys)
c.1249C>A (p.Gln417Lys)
c.1141C>A (p.Gln381Lys)
c.1294C>A (p.Gln432Lys)
c.1246C>A (p.Gln416Lys)
c.1129C>A (p.Gln377Lys)
c.1111C>A (p.Gln371Lys)
3g.69964964C=CA1373414080MITFc.1231C= (p.Gln411=)
c.1228C= (p.Gln410=)
n.1453C=
c.1204C= (p.Gln402=)
c.*42C= (n.*42C=)
c.1297C= (p.Gln433=)
c.976C= (p.Gln326=)
c.1276C= (p.Gln426=)
c.1279C= (p.Gln427=)
c.958C= (p.Gln320=)
c.1123C= (p.Gln375=)
c.*623C= (n.*623C=)
c.790C= (p.Gln264=)
c.1249C= (p.Gln417=)
c.1141C= (p.Gln381=)
c.1294C= (p.Gln432=)
c.1246C= (p.Gln416=)
c.1129C= (p.Gln377=)
c.1111C= (p.Gln371=)
3g.69964964C>GCA353559550MITFc.1231C>G (p.Gln411Glu)
c.1228C>G (p.Gln410Glu)
n.1453C>G
c.1204C>G (p.Gln402Glu)
c.*42C>G (n.*42C>G)
c.1297C>G (p.Gln433Glu)
c.976C>G (p.Gln326Glu)
c.1276C>G (p.Gln426Glu)
c.1279C>G (p.Gln427Glu)
c.958C>G (p.Gln320Glu)
c.1123C>G (p.Gln375Glu)
c.*623C>G (n.*623C>G)
c.790C>G (p.Gln264Glu)
c.1249C>G (p.Gln417Glu)
c.1141C>G (p.Gln381Glu)
c.1294C>G (p.Gln432Glu)
c.1246C>G (p.Gln416Glu)
c.1129C>G (p.Gln377Glu)
c.1111C>G (p.Gln371Glu)
3g.69964964C>TCA353559551MITFc.1231C>T (p.Gln411Ter)
c.1228C>T (p.Gln410Ter)
n.1453C>T
c.1204C>T (p.Gln402Ter)
c.*42C>T (n.*42C>T)
c.1297C>T (p.Gln433Ter)
c.976C>T (p.Gln326Ter)
c.1276C>T (p.Gln426Ter)
c.1279C>T (p.Gln427Ter)
c.958C>T (p.Gln320Ter)
c.1123C>T (p.Gln375Ter)
c.*623C>T (n.*623C>T)
c.790C>T (p.Gln264Ter)
c.1249C>T (p.Gln417Ter)
c.1141C>T (p.Gln381Ter)
c.1294C>T (p.Gln432Ter)
c.1246C>T (p.Gln416Ter)
c.1129C>T (p.Gln377Ter)
c.1111C>T (p.Gln371Ter)
 dbSNP
3g.69964965A>CCA353559552MITFc.1232A>C (p.Gln411Pro)
c.1229A>C (p.Gln410Pro)
n.1454A>C
c.1205A>C (p.Gln402Pro)
c.*43A>C (n.*43A>C)
c.1298A>C (p.Gln433Pro)
c.977A>C (p.Gln326Pro)
c.1277A>C (p.Gln426Pro)
c.1280A>C (p.Gln427Pro)
c.959A>C (p.Gln320Pro)
c.1124A>C (p.Gln375Pro)
c.*624A>C (n.*624A>C)
c.791A>C (p.Gln264Pro)
c.1250A>C (p.Gln417Pro)
c.1142A>C (p.Gln381Pro)
c.1295A>C (p.Gln432Pro)
c.1247A>C (p.Gln416Pro)
c.1130A>C (p.Gln377Pro)
c.1112A>C (p.Gln371Pro)
3g.69964965A>GCA353559553MITFc.1232A>G (p.Gln411Arg)
c.1229A>G (p.Gln410Arg)
n.1454A>G
c.1205A>G (p.Gln402Arg)
c.*43A>G (n.*43A>G)
c.1298A>G (p.Gln433Arg)
c.977A>G (p.Gln326Arg)
c.1277A>G (p.Gln426Arg)
c.1280A>G (p.Gln427Arg)
c.959A>G (p.Gln320Arg)
c.1124A>G (p.Gln375Arg)
c.*624A>G (n.*624A>G)
c.791A>G (p.Gln264Arg)
c.1250A>G (p.Gln417Arg)
c.1142A>G (p.Gln381Arg)
c.1295A>G (p.Gln432Arg)
c.1247A>G (p.Gln416Arg)
c.1130A>G (p.Gln377Arg)
c.1112A>G (p.Gln371Arg)
3g.69964965A>TCA353559554MITFc.1232A>T (p.Gln411Leu)
c.1229A>T (p.Gln410Leu)
n.1454A>T
c.1205A>T (p.Gln402Leu)
c.*43A>T (n.*43A>T)
c.1298A>T (p.Gln433Leu)
c.977A>T (p.Gln326Leu)
c.1277A>T (p.Gln426Leu)
c.1280A>T (p.Gln427Leu)
c.959A>T (p.Gln320Leu)
c.1124A>T (p.Gln375Leu)
c.*624A>T (n.*624A>T)
c.791A>T (p.Gln264Leu)
c.1250A>T (p.Gln417Leu)
c.1142A>T (p.Gln381Leu)
c.1295A>T (p.Gln432Leu)
c.1247A>T (p.Gln416Leu)
c.1130A>T (p.Gln377Leu)
c.1112A>T (p.Gln371Leu)
3g.69964966A>CCA353559555MITFc.1233A>C (p.Gln411His)
c.1230A>C (p.Gln410His)
n.1455A>C
c.1206A>C (p.Gln402His)
c.*44A>C (n.*44A>C)
c.1299A>C (p.Gln433His)
c.978A>C (p.Gln326His)
c.1278A>C (p.Gln426His)
c.1281A>C (p.Gln427His)
c.960A>C (p.Gln320His)
c.1125A>C (p.Gln375His)
c.*625A>C (n.*625A>C)
c.792A>C (p.Gln264His)
c.1251A>C (p.Gln417His)
c.1143A>C (p.Gln381His)
c.1296A>C (p.Gln432His)
c.1248A>C (p.Gln416His)
c.1131A>C (p.Gln377His)
c.1113A>C (p.Gln371His)
3g.69964966A>GCA434433642MITFc.1233A>G (p.Gln411=)
c.1230A>G (p.Gln410=)
n.1455A>G
c.1206A>G (p.Gln402=)
c.*44A>G (n.*44A>G)
c.1299A>G (p.Gln433=)
c.978A>G (p.Gln326=)
c.1278A>G (p.Gln426=)
c.1281A>G (p.Gln427=)
c.960A>G (p.Gln320=)
c.1125A>G (p.Gln375=)
c.*625A>G (n.*625A>G)
c.792A>G (p.Gln264=)
c.1251A>G (p.Gln417=)
c.1143A>G (p.Gln381=)
c.1296A>G (p.Gln432=)
c.1248A>G (p.Gln416=)
c.1131A>G (p.Gln377=)
c.1113A>G (p.Gln371=)
 gnomAD v3 gnomAD v4
3g.69964966A>TCA353559556MITFc.1233A>T (p.Gln411His)
c.1230A>T (p.Gln410His)
n.1455A>T
c.1206A>T (p.Gln402His)
c.*44A>T (n.*44A>T)
c.1299A>T (p.Gln433His)
c.978A>T (p.Gln326His)
c.1278A>T (p.Gln426His)
c.1281A>T (p.Gln427His)
c.960A>T (p.Gln320His)
c.1125A>T (p.Gln375His)
c.*625A>T (n.*625A>T)
c.792A>T (p.Gln264His)
c.1251A>T (p.Gln417His)
c.1143A>T (p.Gln381His)
c.1296A>T (p.Gln432His)
c.1248A>T (p.Gln416His)
c.1131A>T (p.Gln377His)
c.1113A>T (p.Gln371His)
3g.69964967G>ACA353559557MITFc.1234G>A (p.Asp412Asn)
c.1231G>A (p.Asp411Asn)
n.1456G>A
c.1207G>A (p.Asp403Asn)
c.*45G>A (n.*45G>A)
c.1300G>A (p.Asp434Asn)
c.979G>A (p.Asp327Asn)
c.1279G>A (p.Asp427Asn)
c.1282G>A (p.Asp428Asn)
c.961G>A (p.Asp321Asn)
c.1126G>A (p.Asp376Asn)
c.*626G>A (n.*626G>A)
c.793G>A (p.Asp265Asn)
c.1252G>A (p.Asp418Asn)
c.1144G>A (p.Asp382Asn)
c.1297G>A (p.Asp433Asn)
c.1249G>A (p.Asp417Asn)
c.1132G>A (p.Asp378Asn)
c.1114G>A (p.Asp372Asn)
3g.69964967G>CCA353559558MITFc.1234G>C (p.Asp412His)
c.1231G>C (p.Asp411His)
n.1456G>C
c.1207G>C (p.Asp403His)
c.*45G>C (n.*45G>C)
c.1300G>C (p.Asp434His)
c.979G>C (p.Asp327His)
c.1279G>C (p.Asp427His)
c.1282G>C (p.Asp428His)
c.961G>C (p.Asp321His)
c.1126G>C (p.Asp376His)
c.*626G>C (n.*626G>C)
c.793G>C (p.Asp265His)
c.1252G>C (p.Asp418His)
c.1144G>C (p.Asp382His)
c.1297G>C (p.Asp433His)
c.1249G>C (p.Asp417His)
c.1132G>C (p.Asp378His)
c.1114G>C (p.Asp372His)
3g.69964967G>TCA353559559MITFc.1234G>T (p.Asp412Tyr)
c.1231G>T (p.Asp411Tyr)
n.1456G>T
c.1207G>T (p.Asp403Tyr)
c.*45G>T (n.*45G>T)
c.1300G>T (p.Asp434Tyr)
c.979G>T (p.Asp327Tyr)
c.1279G>T (p.Asp427Tyr)
c.1282G>T (p.Asp428Tyr)
c.961G>T (p.Asp321Tyr)
c.1126G>T (p.Asp376Tyr)
c.*626G>T (n.*626G>T)
c.793G>T (p.Asp265Tyr)
c.1252G>T (p.Asp418Tyr)
c.1144G>T (p.Asp382Tyr)
c.1297G>T (p.Asp433Tyr)
c.1249G>T (p.Asp417Tyr)
c.1132G>T (p.Asp378Tyr)
c.1114G>T (p.Asp372Tyr)
3g.69964968A=CA1373414083MITFc.1235A= (p.Asp412=)
c.1232A= (p.Asp411=)
n.1457A=
c.1208A= (p.Asp403=)
c.*46A= (n.*46A=)
c.1301A= (p.Asp434=)
c.980A= (p.Asp327=)
c.1280A= (p.Asp427=)
c.1283A= (p.Asp428=)
c.962A= (p.Asp321=)
c.1127A= (p.Asp376=)
c.*627A= (n.*627A=)
c.794A= (p.Asp265=)
c.1253A= (p.Asp418=)
c.1145A= (p.Asp382=)
c.1298A= (p.Asp433=)
c.1250A= (p.Asp417=)
c.1133A= (p.Asp378=)
c.1115A= (p.Asp372=)
3g.69964968A>CCA353559560MITFc.1235A>C (p.Asp412Ala)
c.1232A>C (p.Asp411Ala)
n.1457A>C
c.1208A>C (p.Asp403Ala)
c.*46A>C (n.*46A>C)
c.1301A>C (p.Asp434Ala)
c.980A>C (p.Asp327Ala)
c.1280A>C (p.Asp427Ala)
c.1283A>C (p.Asp428Ala)
c.962A>C (p.Asp321Ala)
c.1127A>C (p.Asp376Ala)
c.*627A>C (n.*627A>C)
c.794A>C (p.Asp265Ala)
c.1253A>C (p.Asp418Ala)
c.1145A>C (p.Asp382Ala)
c.1298A>C (p.Asp433Ala)
c.1250A>C (p.Asp417Ala)
c.1133A>C (p.Asp378Ala)
c.1115A>C (p.Asp372Ala)
3g.69964968A>GCA353559561MITFc.1235A>G (p.Asp412Gly)
c.1232A>G (p.Asp411Gly)
n.1457A>G
c.1208A>G (p.Asp403Gly)
c.*46A>G (n.*46A>G)
c.1301A>G (p.Asp434Gly)
c.980A>G (p.Asp327Gly)
c.1280A>G (p.Asp427Gly)
c.1283A>G (p.Asp428Gly)
c.962A>G (p.Asp321Gly)
c.1127A>G (p.Asp376Gly)
c.*627A>G (n.*627A>G)
c.794A>G (p.Asp265Gly)
c.1253A>G (p.Asp418Gly)
c.1145A>G (p.Asp382Gly)
c.1298A>G (p.Asp433Gly)
c.1250A>G (p.Asp417Gly)
c.1133A>G (p.Asp378Gly)
c.1115A>G (p.Asp372Gly)
 dbSNP gnomAD v4
3g.69964968A>TCA353559562MITFc.1235A>T (p.Asp412Val)
c.1232A>T (p.Asp411Val)
n.1457A>T
c.1208A>T (p.Asp403Val)
c.*46A>T (n.*46A>T)
c.1301A>T (p.Asp434Val)
c.980A>T (p.Asp327Val)
c.1280A>T (p.Asp427Val)
c.1283A>T (p.Asp428Val)
c.962A>T (p.Asp321Val)
c.1127A>T (p.Asp376Val)
c.*627A>T (n.*627A>T)
c.794A>T (p.Asp265Val)
c.1253A>T (p.Asp418Val)
c.1145A>T (p.Asp382Val)
c.1298A>T (p.Asp433Val)
c.1250A>T (p.Asp417Val)
c.1133A>T (p.Asp378Val)
c.1115A>T (p.Asp372Val)
3g.69964969C>ACA353559563MITFc.1236C>A (p.Asp412Glu)
c.1233C>A (p.Asp411Glu)
n.1458C>A
c.1209C>A (p.Asp403Glu)
c.*47C>A (n.*47C>A)
c.1302C>A (p.Asp434Glu)
c.981C>A (p.Asp327Glu)
c.1281C>A (p.Asp427Glu)
c.1284C>A (p.Asp428Glu)
c.963C>A (p.Asp321Glu)
c.1128C>A (p.Asp376Glu)
c.*628C>A (n.*628C>A)
c.795C>A (p.Asp265Glu)
c.1254C>A (p.Asp418Glu)
c.1146C>A (p.Asp382Glu)
c.1299C>A (p.Asp433Glu)
c.1251C>A (p.Asp417Glu)
c.1134C>A (p.Asp378Glu)
c.1116C>A (p.Asp372Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964969C=CA1373414085MITFc.1236C= (p.Asp412=)
c.1233C= (p.Asp411=)
n.1458C=
c.1209C= (p.Asp403=)
c.*47C= (n.*47C=)
c.1302C= (p.Asp434=)
c.981C= (p.Asp327=)
c.1281C= (p.Asp427=)
c.1284C= (p.Asp428=)
c.963C= (p.Asp321=)
c.1128C= (p.Asp376=)
c.*628C= (n.*628C=)
c.795C= (p.Asp265=)
c.1254C= (p.Asp418=)
c.1146C= (p.Asp382=)
c.1299C= (p.Asp433=)
c.1251C= (p.Asp417=)
c.1134C= (p.Asp378=)
c.1116C= (p.Asp372=)
3g.69964969C>GCA353559564MITFc.1236C>G (p.Asp412Glu)
c.1233C>G (p.Asp411Glu)
n.1458C>G
c.1209C>G (p.Asp403Glu)
c.*47C>G (n.*47C>G)
c.1302C>G (p.Asp434Glu)
c.981C>G (p.Asp327Glu)
c.1281C>G (p.Asp427Glu)
c.1284C>G (p.Asp428Glu)
c.963C>G (p.Asp321Glu)
c.1128C>G (p.Asp376Glu)
c.*628C>G (n.*628C>G)
c.795C>G (p.Asp265Glu)
c.1254C>G (p.Asp418Glu)
c.1146C>G (p.Asp382Glu)
c.1299C>G (p.Asp433Glu)
c.1251C>G (p.Asp417Glu)
c.1134C>G (p.Asp378Glu)
c.1116C>G (p.Asp372Glu)
3g.69964969C>TCA434433649MITFc.1236C>T (p.Asp412=)
c.1233C>T (p.Asp411=)
n.1458C>T
c.1209C>T (p.Asp403=)
c.*47C>T (n.*47C>T)
c.1302C>T (p.Asp434=)
c.981C>T (p.Asp327=)
c.1281C>T (p.Asp427=)
c.1284C>T (p.Asp428=)
c.963C>T (p.Asp321=)
c.1128C>T (p.Asp376=)
c.*628C>T (n.*628C>T)
c.795C>T (p.Asp265=)
c.1254C>T (p.Asp418=)
c.1146C>T (p.Asp382=)
c.1299C>T (p.Asp433=)
c.1251C>T (p.Asp417=)
c.1134C>T (p.Asp378=)
c.1116C>T (p.Asp372=)
3g.69964970C>ACA353559565MITFc.1237C>A (p.Leu413Ile)
c.1234C>A (p.Leu412Ile)
n.1459C>A
c.1210C>A (p.Leu404Ile)
c.*48C>A (n.*48C>A)
c.1303C>A (p.Leu435Ile)
c.982C>A (p.Leu328Ile)
c.1282C>A (p.Leu428Ile)
c.1285C>A (p.Leu429Ile)
c.964C>A (p.Leu322Ile)
c.1129C>A (p.Leu377Ile)
c.*629C>A (n.*629C>A)
c.796C>A (p.Leu266Ile)
c.1255C>A (p.Leu419Ile)
c.1147C>A (p.Leu383Ile)
c.1300C>A (p.Leu434Ile)
c.1252C>A (p.Leu418Ile)
c.1135C>A (p.Leu379Ile)
c.1117C>A (p.Leu373Ile)
3g.69964970C>GCA353559566MITFc.1237C>G (p.Leu413Val)
c.1234C>G (p.Leu412Val)
n.1459C>G
c.1210C>G (p.Leu404Val)
c.*48C>G (n.*48C>G)
c.1303C>G (p.Leu435Val)
c.982C>G (p.Leu328Val)
c.1282C>G (p.Leu428Val)
c.1285C>G (p.Leu429Val)
c.964C>G (p.Leu322Val)
c.1129C>G (p.Leu377Val)
c.*629C>G (n.*629C>G)
c.796C>G (p.Leu266Val)
c.1255C>G (p.Leu419Val)
c.1147C>G (p.Leu383Val)
c.1300C>G (p.Leu434Val)
c.1252C>G (p.Leu418Val)
c.1135C>G (p.Leu379Val)
c.1117C>G (p.Leu373Val)
 ClinVar
3g.69964970C>TCA353559567MITFc.1237C>T (p.Leu413Phe)
c.1234C>T (p.Leu412Phe)
n.1459C>T
c.1210C>T (p.Leu404Phe)
c.*48C>T (n.*48C>T)
c.1303C>T (p.Leu435Phe)
c.982C>T (p.Leu328Phe)
c.1282C>T (p.Leu428Phe)
c.1285C>T (p.Leu429Phe)
c.964C>T (p.Leu322Phe)
c.1129C>T (p.Leu377Phe)
c.*629C>T (n.*629C>T)
c.796C>T (p.Leu266Phe)
c.1255C>T (p.Leu419Phe)
c.1147C>T (p.Leu383Phe)
c.1300C>T (p.Leu434Phe)
c.1252C>T (p.Leu418Phe)
c.1135C>T (p.Leu379Phe)
c.1117C>T (p.Leu373Phe)
 dbSNP
3g.69964971T>ACA353559570MITFc.1238T>A (p.Leu413His)
c.1235T>A (p.Leu412His)
n.1460T>A
c.1211T>A (p.Leu404His)
c.*49T>A (n.*49T>A)
c.1304T>A (p.Leu435His)
c.983T>A (p.Leu328His)
c.1283T>A (p.Leu428His)
c.1286T>A (p.Leu429His)
c.965T>A (p.Leu322His)
c.1130T>A (p.Leu377His)
c.*630T>A (n.*630T>A)
c.797T>A (p.Leu266His)
c.1256T>A (p.Leu419His)
c.1148T>A (p.Leu383His)
c.1301T>A (p.Leu434His)
c.1253T>A (p.Leu418His)
c.1136T>A (p.Leu379His)
c.1118T>A (p.Leu373His)
3g.69964971T>CCA353559569MITFc.1238T>C (p.Leu413Pro)
c.1235T>C (p.Leu412Pro)
n.1460T>C
c.1211T>C (p.Leu404Pro)
c.*49T>C (n.*49T>C)
c.1304T>C (p.Leu435Pro)
c.983T>C (p.Leu328Pro)
c.1283T>C (p.Leu428Pro)
c.1286T>C (p.Leu429Pro)
c.965T>C (p.Leu322Pro)
c.1130T>C (p.Leu377Pro)
c.*630T>C (n.*630T>C)
c.797T>C (p.Leu266Pro)
c.1256T>C (p.Leu419Pro)
c.1148T>C (p.Leu383Pro)
c.1301T>C (p.Leu434Pro)
c.1253T>C (p.Leu418Pro)
c.1136T>C (p.Leu379Pro)
c.1118T>C (p.Leu373Pro)
3g.69964971T>GCA353559568MITFc.1238T>G (p.Leu413Arg)
c.1235T>G (p.Leu412Arg)
n.1460T>G
c.1211T>G (p.Leu404Arg)
c.*49T>G (n.*49T>G)
c.1304T>G (p.Leu435Arg)
c.983T>G (p.Leu328Arg)
c.1283T>G (p.Leu428Arg)
c.1286T>G (p.Leu429Arg)
c.965T>G (p.Leu322Arg)
c.1130T>G (p.Leu377Arg)
c.*630T>G (n.*630T>G)
c.797T>G (p.Leu266Arg)
c.1256T>G (p.Leu419Arg)
c.1148T>G (p.Leu383Arg)
c.1301T>G (p.Leu434Arg)
c.1253T>G (p.Leu418Arg)
c.1136T>G (p.Leu379Arg)
c.1118T>G (p.Leu373Arg)
 ClinVar
3g.69964972C>ACA434433652MITFc.1239C>A (p.Leu413=)
c.1236C>A (p.Leu412=)
n.1461C>A
c.1212C>A (p.Leu404=)
c.*50C>A (n.*50C>A)
c.1305C>A (p.Leu435=)
c.984C>A (p.Leu328=)
c.1284C>A (p.Leu428=)
c.1287C>A (p.Leu429=)
c.966C>A (p.Leu322=)
c.1131C>A (p.Leu377=)
c.*631C>A (n.*631C>A)
c.798C>A (p.Leu266=)
c.1257C>A (p.Leu419=)
c.1149C>A (p.Leu383=)
c.1302C>A (p.Leu434=)
c.1254C>A (p.Leu418=)
c.1137C>A (p.Leu379=)
c.1119C>A (p.Leu373=)
3g.69964972C>GCA434433653MITFc.1239C>G (p.Leu413=)
c.1236C>G (p.Leu412=)
n.1461C>G
c.1212C>G (p.Leu404=)
c.*50C>G (n.*50C>G)
c.1305C>G (p.Leu435=)
c.984C>G (p.Leu328=)
c.1284C>G (p.Leu428=)
c.1287C>G (p.Leu429=)
c.966C>G (p.Leu322=)
c.1131C>G (p.Leu377=)
c.*631C>G (n.*631C>G)
c.798C>G (p.Leu266=)
c.1257C>G (p.Leu419=)
c.1149C>G (p.Leu383=)
c.1302C>G (p.Leu434=)
c.1254C>G (p.Leu418=)
c.1137C>G (p.Leu379=)
c.1119C>G (p.Leu373=)
3g.69964972C>TCA434433656MITFc.1239C>T (p.Leu413=)
c.1236C>T (p.Leu412=)
n.1461C>T
c.1212C>T (p.Leu404=)
c.*50C>T (n.*50C>T)
c.1305C>T (p.Leu435=)
c.984C>T (p.Leu328=)
c.1284C>T (p.Leu428=)
c.1287C>T (p.Leu429=)
c.966C>T (p.Leu322=)
c.1131C>T (p.Leu377=)
c.*631C>T (n.*631C>T)
c.798C>T (p.Leu266=)
c.1257C>T (p.Leu419=)
c.1149C>T (p.Leu383=)
c.1302C>T (p.Leu434=)
c.1254C>T (p.Leu418=)
c.1137C>T (p.Leu379=)
c.1119C>T (p.Leu373=)
 gnomAD v3 gnomAD v4
3g.69964973C>ACA353559571MITFc.1240C>A (p.Leu414Ile)
c.1237C>A (p.Leu413Ile)
n.1462C>A
c.1213C>A (p.Leu405Ile)
c.*51C>A (n.*51C>A)
c.1306C>A (p.Leu436Ile)
c.985C>A (p.Leu329Ile)
c.1285C>A (p.Leu429Ile)
c.1288C>A (p.Leu430Ile)
c.967C>A (p.Leu323Ile)
c.1132C>A (p.Leu378Ile)
c.*632C>A (n.*632C>A)
c.799C>A (p.Leu267Ile)
c.1258C>A (p.Leu420Ile)
c.1150C>A (p.Leu384Ile)
c.1303C>A (p.Leu435Ile)
c.1255C>A (p.Leu419Ile)
c.1138C>A (p.Leu380Ile)
c.1120C>A (p.Leu374Ile)
3g.69964973C>GCA353559572MITFc.1240C>G (p.Leu414Val)
c.1237C>G (p.Leu413Val)
n.1462C>G
c.1213C>G (p.Leu405Val)
c.*51C>G (n.*51C>G)
c.1306C>G (p.Leu436Val)
c.985C>G (p.Leu329Val)
c.1285C>G (p.Leu429Val)
c.1288C>G (p.Leu430Val)
c.967C>G (p.Leu323Val)
c.1132C>G (p.Leu378Val)
c.*632C>G (n.*632C>G)
c.799C>G (p.Leu267Val)
c.1258C>G (p.Leu420Val)
c.1150C>G (p.Leu384Val)
c.1303C>G (p.Leu435Val)
c.1255C>G (p.Leu419Val)
c.1138C>G (p.Leu380Val)
c.1120C>G (p.Leu374Val)
 gnomAD v3 gnomAD v4
3g.69964973C>TCA353559573MITFc.1240C>T (p.Leu414Phe)
c.1237C>T (p.Leu413Phe)
n.1462C>T
c.1213C>T (p.Leu405Phe)
c.*51C>T (n.*51C>T)
c.1306C>T (p.Leu436Phe)
c.985C>T (p.Leu329Phe)
c.1285C>T (p.Leu429Phe)
c.1288C>T (p.Leu430Phe)
c.967C>T (p.Leu323Phe)
c.1132C>T (p.Leu378Phe)
c.*632C>T (n.*632C>T)
c.799C>T (p.Leu267Phe)
c.1258C>T (p.Leu420Phe)
c.1150C>T (p.Leu384Phe)
c.1303C>T (p.Leu435Phe)
c.1255C>T (p.Leu419Phe)
c.1138C>T (p.Leu380Phe)
c.1120C>T (p.Leu374Phe)
 ClinVar dbSNP gnomAD v4
3g.69964974T>ACA353559574MITFc.1241T>A (p.Leu414His)
c.1238T>A (p.Leu413His)
n.1463T>A
c.1214T>A (p.Leu405His)
c.*52T>A (n.*52T>A)
c.1307T>A (p.Leu436His)
c.986T>A (p.Leu329His)
c.1286T>A (p.Leu429His)
c.1289T>A (p.Leu430His)
c.968T>A (p.Leu323His)
c.1133T>A (p.Leu378His)
c.*633T>A (n.*633T>A)
c.800T>A (p.Leu267His)
c.1259T>A (p.Leu420His)
c.1151T>A (p.Leu384His)
c.1304T>A (p.Leu435His)
c.1256T>A (p.Leu419His)
c.1139T>A (p.Leu380His)
c.1121T>A (p.Leu374His)
3g.69964974T>CCA353559575MITFc.1241T>C (p.Leu414Pro)
c.1238T>C (p.Leu413Pro)
n.1463T>C
c.1214T>C (p.Leu405Pro)
c.*52T>C (n.*52T>C)
c.1307T>C (p.Leu436Pro)
c.986T>C (p.Leu329Pro)
c.1286T>C (p.Leu429Pro)
c.1289T>C (p.Leu430Pro)
c.968T>C (p.Leu323Pro)
c.1133T>C (p.Leu378Pro)
c.*633T>C (n.*633T>C)
c.800T>C (p.Leu267Pro)
c.1259T>C (p.Leu420Pro)
c.1151T>C (p.Leu384Pro)
c.1304T>C (p.Leu435Pro)
c.1256T>C (p.Leu419Pro)
c.1139T>C (p.Leu380Pro)
c.1121T>C (p.Leu374Pro)
3g.69964974T>GCA77003521MITFc.1241T>G (p.Leu414Arg)
c.1238T>G (p.Leu413Arg)
n.1463T>G
c.1214T>G (p.Leu405Arg)
c.*52T>G (n.*52T>G)
c.1307T>G (p.Leu436Arg)
c.986T>G (p.Leu329Arg)
c.1286T>G (p.Leu429Arg)
c.1289T>G (p.Leu430Arg)
c.968T>G (p.Leu323Arg)
c.1133T>G (p.Leu378Arg)
c.*633T>G (n.*633T>G)
c.800T>G (p.Leu267Arg)
c.1259T>G (p.Leu420Arg)
c.1151T>G (p.Leu384Arg)
c.1304T>G (p.Leu435Arg)
c.1256T>G (p.Leu419Arg)
c.1139T>G (p.Leu380Arg)
c.1121T>G (p.Leu374Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.69964974T=CA1373414087MITFc.1241T= (p.Leu414=)
c.1238T= (p.Leu413=)
n.1463T=
c.1214T= (p.Leu405=)
c.*52T= (n.*52T=)
c.1307T= (p.Leu436=)
c.986T= (p.Leu329=)
c.1286T= (p.Leu429=)
c.1289T= (p.Leu430=)
c.968T= (p.Leu323=)
c.1133T= (p.Leu378=)
c.*633T= (n.*633T=)
c.800T= (p.Leu267=)
c.1259T= (p.Leu420=)
c.1151T= (p.Leu384=)
c.1304T= (p.Leu435=)
c.1256T= (p.Leu419=)
c.1139T= (p.Leu380=)
c.1121T= (p.Leu374=)
3g.69964975T>ACA434433659MITFc.1242T>A (p.Leu414=)
c.1239T>A (p.Leu413=)
n.1464T>A
c.1215T>A (p.Leu405=)
c.*53T>A (n.*53T>A)
c.1308T>A (p.Leu436=)
c.987T>A (p.Leu329=)
c.1287T>A (p.Leu429=)
c.1290T>A (p.Leu430=)
c.969T>A (p.Leu323=)
c.1134T>A (p.Leu378=)
c.*634T>A (n.*634T>A)
c.801T>A (p.Leu267=)
c.1260T>A (p.Leu420=)
c.1152T>A (p.Leu384=)
c.1305T>A (p.Leu435=)
c.1257T>A (p.Leu419=)
c.1140T>A (p.Leu380=)
c.1122T>A (p.Leu374=)
 gnomAD v3 gnomAD v4
3g.69964975T>CCA434433660MITFc.1242T>C (p.Leu414=)
c.1239T>C (p.Leu413=)
n.1464T>C
c.1215T>C (p.Leu405=)
c.*53T>C (n.*53T>C)
c.1308T>C (p.Leu436=)
c.987T>C (p.Leu329=)
c.1287T>C (p.Leu429=)
c.1290T>C (p.Leu430=)
c.969T>C (p.Leu323=)
c.1134T>C (p.Leu378=)
c.*634T>C (n.*634T>C)
c.801T>C (p.Leu267=)
c.1260T>C (p.Leu420=)
c.1152T>C (p.Leu384=)
c.1305T>C (p.Leu435=)
c.1257T>C (p.Leu419=)
c.1140T>C (p.Leu380=)
c.1122T>C (p.Leu374=)
3g.69964975T>GCA434433661MITFc.1242T>G (p.Leu414=)
c.1239T>G (p.Leu413=)
n.1464T>G
c.1215T>G (p.Leu405=)
c.*53T>G (n.*53T>G)
c.1308T>G (p.Leu436=)
c.987T>G (p.Leu329=)
c.1287T>G (p.Leu429=)
c.1290T>G (p.Leu430=)
c.969T>G (p.Leu323=)
c.1134T>G (p.Leu378=)
c.*634T>G (n.*634T>G)
c.801T>G (p.Leu267=)
c.1260T>G (p.Leu420=)
c.1152T>G (p.Leu384=)
c.1305T>G (p.Leu435=)
c.1257T>G (p.Leu419=)
c.1140T>G (p.Leu380=)
c.1122T>G (p.Leu374=)
3g.69964976C>ACA353559578MITFc.1243C>A (p.Gln415Lys)
c.1240C>A (p.Gln414Lys)
n.1465C>A
c.1216C>A (p.Gln406Lys)
c.*54C>A (n.*54C>A)
c.1309C>A (p.Gln437Lys)
c.988C>A (p.Gln330Lys)
c.1288C>A (p.Gln430Lys)
c.1291C>A (p.Gln431Lys)
c.970C>A (p.Gln324Lys)
c.1135C>A (p.Gln379Lys)
c.*635C>A (n.*635C>A)
c.802C>A (p.Gln268Lys)
c.1261C>A (p.Gln421Lys)
c.1153C>A (p.Gln385Lys)
c.1306C>A (p.Gln436Lys)
c.1258C>A (p.Gln420Lys)
c.1141C>A (p.Gln381Lys)
c.1123C>A (p.Gln375Lys)
3g.69964976C>GCA353559576MITFc.1243C>G (p.Gln415Glu)
c.1240C>G (p.Gln414Glu)
n.1465C>G
c.1216C>G (p.Gln406Glu)
c.*54C>G (n.*54C>G)
c.1309C>G (p.Gln437Glu)
c.988C>G (p.Gln330Glu)
c.1288C>G (p.Gln430Glu)
c.1291C>G (p.Gln431Glu)
c.970C>G (p.Gln324Glu)
c.1135C>G (p.Gln379Glu)
c.*635C>G (n.*635C>G)
c.802C>G (p.Gln268Glu)
c.1261C>G (p.Gln421Glu)
c.1153C>G (p.Gln385Glu)
c.1306C>G (p.Gln436Glu)
c.1258C>G (p.Gln420Glu)
c.1141C>G (p.Gln381Glu)
c.1123C>G (p.Gln375Glu)
3g.69964976C>TCA353559577MITFc.1243C>T (p.Gln415Ter)
c.1240C>T (p.Gln414Ter)
n.1465C>T
c.1216C>T (p.Gln406Ter)
c.*54C>T (n.*54C>T)
c.1309C>T (p.Gln437Ter)
c.988C>T (p.Gln330Ter)
c.1288C>T (p.Gln430Ter)
c.1291C>T (p.Gln431Ter)
c.970C>T (p.Gln324Ter)
c.1135C>T (p.Gln379Ter)
c.*635C>T (n.*635C>T)
c.802C>T (p.Gln268Ter)
c.1261C>T (p.Gln421Ter)
c.1153C>T (p.Gln385Ter)
c.1306C>T (p.Gln436Ter)
c.1258C>T (p.Gln420Ter)
c.1141C>T (p.Gln381Ter)
c.1123C>T (p.Gln375Ter)
 dbSNP
3g.69964977A=CA1373414089MITFc.1244A= (p.Gln415=)
c.1241A= (p.Gln414=)
n.1466A=
c.1217A= (p.Gln406=)
c.*55A= (n.*55A=)
c.1310A= (p.Gln437=)
c.989A= (p.Gln330=)
c.1289A= (p.Gln430=)
c.1292A= (p.Gln431=)
c.971A= (p.Gln324=)
c.1136A= (p.Gln379=)
c.*636A= (n.*636A=)
c.803A= (p.Gln268=)
c.1262A= (p.Gln421=)
c.1154A= (p.Gln385=)
c.1307A= (p.Gln436=)
c.1259A= (p.Gln420=)
c.1142A= (p.Gln381=)
c.1124A= (p.Gln375=)
3g.69964977A>CCA353559579MITFc.1244A>C (p.Gln415Pro)
c.1241A>C (p.Gln414Pro)
n.1466A>C
c.1217A>C (p.Gln406Pro)
c.*55A>C (n.*55A>C)
c.1310A>C (p.Gln437Pro)
c.989A>C (p.Gln330Pro)
c.1289A>C (p.Gln430Pro)
c.1292A>C (p.Gln431Pro)
c.971A>C (p.Gln324Pro)
c.1136A>C (p.Gln379Pro)
c.*636A>C (n.*636A>C)
c.803A>C (p.Gln268Pro)
c.1262A>C (p.Gln421Pro)
c.1154A>C (p.Gln385Pro)
c.1307A>C (p.Gln436Pro)
c.1259A>C (p.Gln420Pro)
c.1142A>C (p.Gln381Pro)
c.1124A>C (p.Gln375Pro)
3g.69964977A>GCA353559580MITFc.1244A>G (p.Gln415Arg)
c.1241A>G (p.Gln414Arg)
n.1466A>G
c.1217A>G (p.Gln406Arg)
c.*55A>G (n.*55A>G)
c.1310A>G (p.Gln437Arg)
c.989A>G (p.Gln330Arg)
c.1289A>G (p.Gln430Arg)
c.1292A>G (p.Gln431Arg)
c.971A>G (p.Gln324Arg)
c.1136A>G (p.Gln379Arg)
c.*636A>G (n.*636A>G)
c.803A>G (p.Gln268Arg)
c.1262A>G (p.Gln421Arg)
c.1154A>G (p.Gln385Arg)
c.1307A>G (p.Gln436Arg)
c.1259A>G (p.Gln420Arg)
c.1142A>G (p.Gln381Arg)
c.1124A>G (p.Gln375Arg)
 dbSNP
3g.69964977A>TCA353559581MITFc.1244A>T (p.Gln415Leu)
c.1241A>T (p.Gln414Leu)
n.1466A>T
c.1217A>T (p.Gln406Leu)
c.*55A>T (n.*55A>T)
c.1310A>T (p.Gln437Leu)
c.989A>T (p.Gln330Leu)
c.1289A>T (p.Gln430Leu)
c.1292A>T (p.Gln431Leu)
c.971A>T (p.Gln324Leu)
c.1136A>T (p.Gln379Leu)
c.*636A>T (n.*636A>T)
c.803A>T (p.Gln268Leu)
c.1262A>T (p.Gln421Leu)
c.1154A>T (p.Gln385Leu)
c.1307A>T (p.Gln436Leu)
c.1259A>T (p.Gln420Leu)
c.1142A>T (p.Gln381Leu)
c.1124A>T (p.Gln375Leu)
 dbSNP gnomAD v4
3g.69964978G>ACA434433668MITFc.1245G>A (p.Gln415=)
c.1242G>A (p.Gln414=)
n.1467G>A
c.1218G>A (p.Gln406=)
c.*56G>A (n.*56G>A)
c.1311G>A (p.Gln437=)
c.990G>A (p.Gln330=)
c.1290G>A (p.Gln430=)
c.1293G>A (p.Gln431=)
c.972G>A (p.Gln324=)
c.1137G>A (p.Gln379=)
c.*637G>A (n.*637G>A)
c.804G>A (p.Gln268=)
c.1263G>A (p.Gln421=)
c.1155G>A (p.Gln385=)
c.1308G>A (p.Gln436=)
c.1260G>A (p.Gln420=)
c.1143G>A (p.Gln381=)
c.1125G>A (p.Gln375=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964978G>CCA353559582MITFc.1245G>C (p.Gln415His)
c.1242G>C (p.Gln414His)
n.1467G>C
c.1218G>C (p.Gln406His)
c.*56G>C (n.*56G>C)
c.1311G>C (p.Gln437His)
c.990G>C (p.Gln330His)
c.1290G>C (p.Gln430His)
c.1293G>C (p.Gln431His)
c.972G>C (p.Gln324His)
c.1137G>C (p.Gln379His)
c.*637G>C (n.*637G>C)
c.804G>C (p.Gln268His)
c.1263G>C (p.Gln421His)
c.1155G>C (p.Gln385His)
c.1308G>C (p.Gln436His)
c.1260G>C (p.Gln420His)
c.1143G>C (p.Gln381His)
c.1125G>C (p.Gln375His)
3g.69964978G=CA1373414095MITFc.1245G= (p.Gln415=)
c.1242G= (p.Gln414=)
n.1467G=
c.1218G= (p.Gln406=)
c.*56G= (n.*56G=)
c.1311G= (p.Gln437=)
c.990G= (p.Gln330=)
c.1290G= (p.Gln430=)
c.1293G= (p.Gln431=)
c.972G= (p.Gln324=)
c.1137G= (p.Gln379=)
c.*637G= (n.*637G=)
c.804G= (p.Gln268=)
c.1263G= (p.Gln421=)
c.1155G= (p.Gln385=)
c.1308G= (p.Gln436=)
c.1260G= (p.Gln420=)
c.1143G= (p.Gln381=)
c.1125G= (p.Gln375=)
3g.69964978G>TCA353559583MITFc.1245G>T (p.Gln415His)
c.1242G>T (p.Gln414His)
n.1467G>T
c.1218G>T (p.Gln406His)
c.*56G>T (n.*56G>T)
c.1311G>T (p.Gln437His)
c.990G>T (p.Gln330His)
c.1290G>T (p.Gln430His)
c.1293G>T (p.Gln431His)
c.972G>T (p.Gln324His)
c.1137G>T (p.Gln379His)
c.*637G>T (n.*637G>T)
c.804G>T (p.Gln268His)
c.1263G>T (p.Gln421His)
c.1155G>T (p.Gln385His)
c.1308G>T (p.Gln436His)
c.1260G>T (p.Gln420His)
c.1143G>T (p.Gln381His)
c.1125G>T (p.Gln375His)
 gnomAD v4
3g.69964979C>ACA2490638MITFc.1246C>A (p.His416Asn)
c.1243C>A (p.His415Asn)
n.1468C>A
c.1219C>A (p.His407Asn)
c.*57C>A (n.*57C>A)
c.1312C>A (p.His438Asn)
c.991C>A (p.His331Asn)
c.1291C>A (p.His431Asn)
c.1294C>A (p.His432Asn)
c.973C>A (p.His325Asn)
c.1138C>A (p.His380Asn)
c.*638C>A (n.*638C>A)
c.805C>A (p.His269Asn)
c.1264C>A (p.His422Asn)
c.1156C>A (p.His386Asn)
c.1309C>A (p.His437Asn)
c.1261C>A (p.His421Asn)
c.1144C>A (p.His382Asn)
c.1126C>A (p.His376Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964979C=CA1373414099MITFc.1246C= (p.His416=)
c.1243C= (p.His415=)
n.1468C=
c.1219C= (p.His407=)
c.*57C= (n.*57C=)
c.1312C= (p.His438=)
c.991C= (p.His331=)
c.1291C= (p.His431=)
c.1294C= (p.His432=)
c.973C= (p.His325=)
c.1138C= (p.His380=)
c.*638C= (n.*638C=)
c.805C= (p.His269=)
c.1264C= (p.His422=)
c.1156C= (p.His386=)
c.1309C= (p.His437=)
c.1261C= (p.His421=)
c.1144C= (p.His382=)
c.1126C= (p.His376=)
3g.69964979C>GCA353559585MITFc.1246C>G (p.His416Asp)
c.1243C>G (p.His415Asp)
n.1468C>G
c.1219C>G (p.His407Asp)
c.*57C>G (n.*57C>G)
c.1312C>G (p.His438Asp)
c.991C>G (p.His331Asp)
c.1291C>G (p.His431Asp)
c.1294C>G (p.His432Asp)
c.973C>G (p.His325Asp)
c.1138C>G (p.His380Asp)
c.*638C>G (n.*638C>G)
c.805C>G (p.His269Asp)
c.1264C>G (p.His422Asp)
c.1156C>G (p.His386Asp)
c.1309C>G (p.His437Asp)
c.1261C>G (p.His421Asp)
c.1144C>G (p.His382Asp)
c.1126C>G (p.His376Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.69964979C>TCA353559584MITFc.1246C>T (p.His416Tyr)
c.1243C>T (p.His415Tyr)
n.1468C>T
c.1219C>T (p.His407Tyr)
c.*57C>T (n.*57C>T)
c.1312C>T (p.His438Tyr)
c.991C>T (p.His331Tyr)
c.1291C>T (p.His431Tyr)
c.1294C>T (p.His432Tyr)
c.973C>T (p.His325Tyr)
c.1138C>T (p.His380Tyr)
c.*638C>T (n.*638C>T)
c.805C>T (p.His269Tyr)
c.1264C>T (p.His422Tyr)
c.1156C>T (p.His386Tyr)
c.1309C>T (p.His437Tyr)
c.1261C>T (p.His421Tyr)
c.1144C>T (p.His382Tyr)
c.1126C>T (p.His376Tyr)
3g.69964980A=CA1373414102MITFc.1247A= (p.His416=)
c.1244A= (p.His415=)
n.1469A=
c.1220A= (p.His407=)
c.*58A= (n.*58A=)
c.1313A= (p.His438=)
c.992A= (p.His331=)
c.1292A= (p.His431=)
c.1295A= (p.His432=)
c.974A= (p.His325=)
c.1139A= (p.His380=)
c.*639A= (n.*639A=)
c.806A= (p.His269=)
c.1265A= (p.His422=)
c.1157A= (p.His386=)
c.1310A= (p.His437=)
c.1262A= (p.His421=)
c.1145A= (p.His382=)
c.1127A= (p.His376=)
3g.69964980A>CCA353559586MITFc.1247A>C (p.His416Pro)
c.1244A>C (p.His415Pro)
n.1469A>C
c.1220A>C (p.His407Pro)
c.*58A>C (n.*58A>C)
c.1313A>C (p.His438Pro)
c.992A>C (p.His331Pro)
c.1292A>C (p.His431Pro)
c.1295A>C (p.His432Pro)
c.974A>C (p.His325Pro)
c.1139A>C (p.His380Pro)
c.*639A>C (n.*639A>C)
c.806A>C (p.His269Pro)
c.1265A>C (p.His422Pro)
c.1157A>C (p.His386Pro)
c.1310A>C (p.His437Pro)
c.1262A>C (p.His421Pro)
c.1145A>C (p.His382Pro)
c.1127A>C (p.His376Pro)
3g.69964980A>GCA353559587MITFc.1247A>G (p.His416Arg)
c.1244A>G (p.His415Arg)
n.1469A>G
c.1220A>G (p.His407Arg)
c.*58A>G (n.*58A>G)
c.1313A>G (p.His438Arg)
c.992A>G (p.His331Arg)
c.1292A>G (p.His431Arg)
c.1295A>G (p.His432Arg)
c.974A>G (p.His325Arg)
c.1139A>G (p.His380Arg)
c.*639A>G (n.*639A>G)
c.806A>G (p.His269Arg)
c.1265A>G (p.His422Arg)
c.1157A>G (p.His386Arg)
c.1310A>G (p.His437Arg)
c.1262A>G (p.His421Arg)
c.1145A>G (p.His382Arg)
c.1127A>G (p.His376Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69964980A>TCA353559588MITFc.1247A>T (p.His416Leu)
c.1244A>T (p.His415Leu)
n.1469A>T
c.1220A>T (p.His407Leu)
c.*58A>T (n.*58A>T)
c.1313A>T (p.His438Leu)
c.992A>T (p.His331Leu)
c.1292A>T (p.His431Leu)
c.1295A>T (p.His432Leu)
c.974A>T (p.His325Leu)
c.1139A>T (p.His380Leu)
c.*639A>T (n.*639A>T)
c.806A>T (p.His269Leu)
c.1265A>T (p.His422Leu)
c.1157A>T (p.His386Leu)
c.1310A>T (p.His437Leu)
c.1262A>T (p.His421Leu)
c.1145A>T (p.His382Leu)
c.1127A>T (p.His376Leu)
 gnomAD v4

Number of alleles fetched