| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69964880T>A | CA353559374 | MITF | c.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) | |
| 3 | g.69964880T>C | CA123838 | MITF | c.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 |
| 3 | g.69964880T>G | CA353559373 | MITF | c.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) | |
| 3 | g.69964880T= | CA1373413906 | MITF | c.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=) | |
| 3 | g.69964881C>A | CA353559375 | MITF | c.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) | |
| 3 | g.69964881C>G | CA353559376 | MITF | c.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) | |
| 3 | g.69964881C>T | CA353559377 | MITF | c.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 |
| 3 | g.69964882C>A | CA434433377 | MITF | c.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=) | |
| 3 | g.69964882C>G | CA434433374 | MITF | c.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=) | |
| 3 | g.69964882C>T | CA434433375 | MITF | c.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 |
| 3 | g.69964883C>A | CA353559378 | MITF | c.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) | |
| 3 | g.69964883C= | CA1373413911 | MITF | c.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=) | |
| 3 | g.69964883C>G | CA353559379 | MITF | c.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) | |
| 3 | g.69964883C>T | CA2490625 | MITF | c.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 |
| 3 | g.69964884T>A | CA353559380 | MITF | c.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) | |
| 3 | g.69964884T>C | CA353559382 | MITF | c.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) | |
| 3 | g.69964884T>G | CA353559381 | MITF | c.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) | |
| 3 | g.69964885T>A | CA434433380 | MITF | c.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=) | |
| 3 | g.69964885T>C | CA434433381 | MITF | c.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 |
| 3 | g.69964885T>G | CA434433383 | MITF | c.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=) | |
| 3 | g.69964886A>C | CA353559383 | MITF | c.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) | |
| 3 | g.69964886A>G | CA353559384 | MITF | c.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) | |
| 3 | g.69964886A>T | CA353559385 | MITF | c.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) | |
| 3 | g.69964887T>A | CA353559386 | MITF | c.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) | |
| 3 | g.69964887T>C | CA353559387 | MITF | c.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) | |
| 3 | g.69964887T>G | CA353559388 | MITF | c.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) | |
| 3 | g.69964888T>A | CA434433385 | MITF | c.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=) | |
| 3 | g.69964888T>C | CA434433386 | MITF | c.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=) | |
| 3 | g.69964888T>G | CA353559389 | MITF | c.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) | |
| 3 | g.69964889C>A | CA353559390 | MITF | c.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) | |
| 3 | g.69964889C= | CA1373413914 | MITF | c.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=) | |
| 3 | g.69964889C>G | CA2490626 | MITF | c.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 |
| 3 | g.69964889C>T | CA353559391 | MITF | c.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) | |
| 3 | g.69964890C>A | CA353559394 | MITF | c.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) | |
| 3 | g.69964890C>G | CA353559393 | MITF | c.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) | |
| 3 | g.69964890C>T | CA353559392 | MITF | c.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 |
| 3 | g.69964891A= | CA1373413925 | MITF | c.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=) | |
| 3 | g.69964891A>C | CA434433388 | MITF | c.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=) | |
| 3 | g.69964891A>G | CA434433389 | MITF | c.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 |
| 3 | g.69964891A>T | CA2490627 | MITF | c.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 |
| 3 | g.69964892T>A | CA353559395 | MITF | c.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) | |
| 3 | g.69964892T>C | CA353559396 | MITF | c.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 |
| 3 | g.69964892T>G | CA353559397 | MITF | c.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) | |
| 3 | g.69964892T= | CA1373413928 | MITF | c.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=) | |
| 3 | g.69964893C>A | CA353559398 | MITF | c.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 |
| 3 | g.69964893C>G | CA353559399 | MITF | c.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) | |
| 3 | g.69964893C>T | CA353559400 | MITF | c.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 |
| 3 | g.69964894C>A | CA434433390 | MITF | c.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=) | |
| 3 | g.69964894C>G | CA434433391 | MITF | c.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=) | |
| 3 | g.69964894C>T | CA434433392 | MITF | c.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 |