| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69965032C>A | CA434433731 | MITF | c.1299C>A (p.Ile433=) c.1296C>A (p.Ile432=) n.1521C>A c.1272C>A (p.Ile424=) c.*110C>A (n.*110C>A) c.1365C>A (p.Ile455=) c.1044C>A (p.Ile348=) c.1344C>A (p.Ile448=) c.1347C>A (p.Ile449=) c.1026C>A (p.Ile342=) c.1191C>A (p.Ile397=) c.*691C>A (n.*691C>A) c.858C>A (p.Ile286=) c.1317C>A (p.Ile439=) c.1209C>A (p.Ile403=) c.1362C>A (p.Ile454=) c.1314C>A (p.Ile438=) c.1197C>A (p.Ile399=) c.1179C>A (p.Ile393=) | |
| 3 | g.69965032C= | CA1373414208 | MITF | c.1299C= (p.Ile433=) c.1296C= (p.Ile432=) n.1521C= c.1272C= (p.Ile424=) c.*110C= (n.*110C=) c.1365C= (p.Ile455=) c.1044C= (p.Ile348=) c.1344C= (p.Ile448=) c.1347C= (p.Ile449=) c.1026C= (p.Ile342=) c.1191C= (p.Ile397=) c.*691C= (n.*691C=) c.858C= (p.Ile286=) c.1317C= (p.Ile439=) c.1209C= (p.Ile403=) c.1362C= (p.Ile454=) c.1314C= (p.Ile438=) c.1197C= (p.Ile399=) c.1179C= (p.Ile393=) | |
| 3 | g.69965032C>G | CA353559693 | MITF | c.1299C>G (p.Ile433Met) c.1296C>G (p.Ile432Met) n.1521C>G c.1272C>G (p.Ile424Met) c.*110C>G (n.*110C>G) c.1365C>G (p.Ile455Met) c.1044C>G (p.Ile348Met) c.1344C>G (p.Ile448Met) c.1347C>G (p.Ile449Met) c.1026C>G (p.Ile342Met) c.1191C>G (p.Ile397Met) c.*691C>G (n.*691C>G) c.858C>G (p.Ile286Met) c.1317C>G (p.Ile439Met) c.1209C>G (p.Ile403Met) c.1362C>G (p.Ile454Met) c.1314C>G (p.Ile438Met) c.1197C>G (p.Ile399Met) c.1179C>G (p.Ile393Met) | dbSNP |
| 3 | g.69965032C>T | CA434433732 | MITF | c.1299C>T (p.Ile433=) c.1296C>T (p.Ile432=) n.1521C>T c.1272C>T (p.Ile424=) c.*110C>T (n.*110C>T) c.1365C>T (p.Ile455=) c.1044C>T (p.Ile348=) c.1344C>T (p.Ile448=) c.1347C>T (p.Ile449=) c.1026C>T (p.Ile342=) c.1191C>T (p.Ile397=) c.*691C>T (n.*691C>T) c.858C>T (p.Ile286=) c.1317C>T (p.Ile439=) c.1209C>T (p.Ile403=) c.1362C>T (p.Ile454=) c.1314C>T (p.Ile438=) c.1197C>T (p.Ile399=) c.1179C>T (p.Ile393=) | |
| 3 | g.69965033A= | CA1373414217 | MITF | c.1300A= (p.Thr434=) c.1297A= (p.Thr433=) n.1522A= c.1273A= (p.Thr425=) c.*111A= (n.*111A=) c.1366A= (p.Thr456=) c.1045A= (p.Thr349=) c.1345A= (p.Thr449=) c.1348A= (p.Thr450=) c.1027A= (p.Thr343=) c.1192A= (p.Thr398=) c.*692A= (n.*692A=) c.859A= (p.Thr287=) c.1318A= (p.Thr440=) c.1210A= (p.Thr404=) c.1363A= (p.Thr455=) c.1315A= (p.Thr439=) c.1198A= (p.Thr400=) c.1180A= (p.Thr394=) | |
| 3 | g.69965033A>C | CA353559694 | MITF | c.1300A>C (p.Thr434Pro) c.1297A>C (p.Thr433Pro) n.1522A>C c.1273A>C (p.Thr425Pro) c.*111A>C (n.*111A>C) c.1366A>C (p.Thr456Pro) c.1045A>C (p.Thr349Pro) c.1345A>C (p.Thr449Pro) c.1348A>C (p.Thr450Pro) c.1027A>C (p.Thr343Pro) c.1192A>C (p.Thr398Pro) c.*692A>C (n.*692A>C) c.859A>C (p.Thr287Pro) c.1318A>C (p.Thr440Pro) c.1210A>C (p.Thr404Pro) c.1363A>C (p.Thr455Pro) c.1315A>C (p.Thr439Pro) c.1198A>C (p.Thr400Pro) c.1180A>C (p.Thr394Pro) | dbSNP |
| 3 | g.69965033A>G | CA353559695 | MITF | c.1300A>G (p.Thr434Ala) c.1297A>G (p.Thr433Ala) n.1522A>G c.1273A>G (p.Thr425Ala) c.*111A>G (n.*111A>G) c.1366A>G (p.Thr456Ala) c.1045A>G (p.Thr349Ala) c.1345A>G (p.Thr449Ala) c.1348A>G (p.Thr450Ala) c.1027A>G (p.Thr343Ala) c.1192A>G (p.Thr398Ala) c.*692A>G (n.*692A>G) c.859A>G (p.Thr287Ala) c.1318A>G (p.Thr440Ala) c.1210A>G (p.Thr404Ala) c.1363A>G (p.Thr455Ala) c.1315A>G (p.Thr439Ala) c.1198A>G (p.Thr400Ala) c.1180A>G (p.Thr394Ala) | |
| 3 | g.69965033A>T | CA353559696 | MITF | c.1300A>T (p.Thr434Ser) c.1297A>T (p.Thr433Ser) n.1522A>T c.1273A>T (p.Thr425Ser) c.*111A>T (n.*111A>T) c.1366A>T (p.Thr456Ser) c.1045A>T (p.Thr349Ser) c.1345A>T (p.Thr449Ser) c.1348A>T (p.Thr450Ser) c.1027A>T (p.Thr343Ser) c.1192A>T (p.Thr398Ser) c.*692A>T (n.*692A>T) c.859A>T (p.Thr287Ser) c.1318A>T (p.Thr440Ser) c.1210A>T (p.Thr404Ser) c.1363A>T (p.Thr455Ser) c.1315A>T (p.Thr439Ser) c.1198A>T (p.Thr400Ser) c.1180A>T (p.Thr394Ser) | |
| 3 | g.69965034C>A | CA353559697 | MITF | c.1301C>A (p.Thr434Asn) c.1298C>A (p.Thr433Asn) n.1523C>A c.1274C>A (p.Thr425Asn) c.*112C>A (n.*112C>A) c.1367C>A (p.Thr456Asn) c.1046C>A (p.Thr349Asn) c.1346C>A (p.Thr449Asn) c.1349C>A (p.Thr450Asn) c.1028C>A (p.Thr343Asn) c.1193C>A (p.Thr398Asn) c.*693C>A (n.*693C>A) c.860C>A (p.Thr287Asn) c.1319C>A (p.Thr440Asn) c.1211C>A (p.Thr404Asn) c.1364C>A (p.Thr455Asn) c.1316C>A (p.Thr439Asn) c.1199C>A (p.Thr400Asn) c.1181C>A (p.Thr394Asn) | |
| 3 | g.69965034C>G | CA353559698 | MITF | c.1301C>G (p.Thr434Ser) c.1298C>G (p.Thr433Ser) n.1523C>G c.1274C>G (p.Thr425Ser) c.*112C>G (n.*112C>G) c.1367C>G (p.Thr456Ser) c.1046C>G (p.Thr349Ser) c.1346C>G (p.Thr449Ser) c.1349C>G (p.Thr450Ser) c.1028C>G (p.Thr343Ser) c.1193C>G (p.Thr398Ser) c.*693C>G (n.*693C>G) c.860C>G (p.Thr287Ser) c.1319C>G (p.Thr440Ser) c.1211C>G (p.Thr404Ser) c.1364C>G (p.Thr455Ser) c.1316C>G (p.Thr439Ser) c.1199C>G (p.Thr400Ser) c.1181C>G (p.Thr394Ser) | |
| 3 | g.69965034C>T | CA353559699 | MITF | c.1301C>T (p.Thr434Ile) c.1298C>T (p.Thr433Ile) n.1523C>T c.1274C>T (p.Thr425Ile) c.*112C>T (n.*112C>T) c.1367C>T (p.Thr456Ile) c.1046C>T (p.Thr349Ile) c.1346C>T (p.Thr449Ile) c.1349C>T (p.Thr450Ile) c.1028C>T (p.Thr343Ile) c.1193C>T (p.Thr398Ile) c.*693C>T (n.*693C>T) c.860C>T (p.Thr287Ile) c.1319C>T (p.Thr440Ile) c.1211C>T (p.Thr404Ile) c.1364C>T (p.Thr455Ile) c.1316C>T (p.Thr439Ile) c.1199C>T (p.Thr400Ile) c.1181C>T (p.Thr394Ile) | |
| 3 | g.69965035C>A | CA434433735 | MITF | c.1302C>A (p.Thr434=) c.1299C>A (p.Thr433=) n.1524C>A c.1275C>A (p.Thr425=) c.*113C>A (n.*113C>A) c.1368C>A (p.Thr456=) c.1047C>A (p.Thr349=) c.1347C>A (p.Thr449=) c.1350C>A (p.Thr450=) c.1029C>A (p.Thr343=) c.1194C>A (p.Thr398=) c.*694C>A (n.*694C>A) c.861C>A (p.Thr287=) c.1320C>A (p.Thr440=) c.1212C>A (p.Thr404=) c.1365C>A (p.Thr455=) c.1317C>A (p.Thr439=) c.1200C>A (p.Thr400=) c.1182C>A (p.Thr394=) | |
| 3 | g.69965035C= | CA1373414219 | MITF | c.1302C= (p.Thr434=) c.1299C= (p.Thr433=) n.1524C= c.1275C= (p.Thr425=) c.*113C= (n.*113C=) c.1368C= (p.Thr456=) c.1047C= (p.Thr349=) c.1347C= (p.Thr449=) c.1350C= (p.Thr450=) c.1029C= (p.Thr343=) c.1194C= (p.Thr398=) c.*694C= (n.*694C=) c.861C= (p.Thr287=) c.1320C= (p.Thr440=) c.1212C= (p.Thr404=) c.1365C= (p.Thr455=) c.1317C= (p.Thr439=) c.1200C= (p.Thr400=) c.1182C= (p.Thr394=) | |
| 3 | g.69965035C>G | CA434433736 | MITF | c.1302C>G (p.Thr434=) c.1299C>G (p.Thr433=) n.1524C>G c.1275C>G (p.Thr425=) c.*113C>G (n.*113C>G) c.1368C>G (p.Thr456=) c.1047C>G (p.Thr349=) c.1347C>G (p.Thr449=) c.1350C>G (p.Thr450=) c.1029C>G (p.Thr343=) c.1194C>G (p.Thr398=) c.*694C>G (n.*694C>G) c.861C>G (p.Thr287=) c.1320C>G (p.Thr440=) c.1212C>G (p.Thr404=) c.1365C>G (p.Thr455=) c.1317C>G (p.Thr439=) c.1200C>G (p.Thr400=) c.1182C>G (p.Thr394=) | |
| 3 | g.69965035C>T | CA434433737 | MITF | c.1302C>T (p.Thr434=) c.1299C>T (p.Thr433=) n.1524C>T c.1275C>T (p.Thr425=) c.*113C>T (n.*113C>T) c.1368C>T (p.Thr456=) c.1047C>T (p.Thr349=) c.1347C>T (p.Thr449=) c.1350C>T (p.Thr450=) c.1029C>T (p.Thr343=) c.1194C>T (p.Thr398=) c.*694C>T (n.*694C>T) c.861C>T (p.Thr287=) c.1320C>T (p.Thr440=) c.1212C>T (p.Thr404=) c.1365C>T (p.Thr455=) c.1317C>T (p.Thr439=) c.1200C>T (p.Thr400=) c.1182C>T (p.Thr394=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965036T>A | CA353559702 | MITF | c.1303T>A (p.Phe435Ile) c.1300T>A (p.Phe434Ile) n.1525T>A c.1276T>A (p.Phe426Ile) c.*114T>A (n.*114T>A) c.1369T>A (p.Phe457Ile) c.1048T>A (p.Phe350Ile) c.1348T>A (p.Phe450Ile) c.1351T>A (p.Phe451Ile) c.1030T>A (p.Phe344Ile) c.1195T>A (p.Phe399Ile) c.*695T>A (n.*695T>A) c.862T>A (p.Phe288Ile) c.1321T>A (p.Phe441Ile) c.1213T>A (p.Phe405Ile) c.1366T>A (p.Phe456Ile) c.1318T>A (p.Phe440Ile) c.1201T>A (p.Phe401Ile) c.1183T>A (p.Phe395Ile) | dbSNP |
| 3 | g.69965036T>C | CA353559701 | MITF | c.1303T>C (p.Phe435Leu) c.1300T>C (p.Phe434Leu) n.1525T>C c.1276T>C (p.Phe426Leu) c.*114T>C (n.*114T>C) c.1369T>C (p.Phe457Leu) c.1048T>C (p.Phe350Leu) c.1348T>C (p.Phe450Leu) c.1351T>C (p.Phe451Leu) c.1030T>C (p.Phe344Leu) c.1195T>C (p.Phe399Leu) c.*695T>C (n.*695T>C) c.862T>C (p.Phe288Leu) c.1321T>C (p.Phe441Leu) c.1213T>C (p.Phe405Leu) c.1366T>C (p.Phe456Leu) c.1318T>C (p.Phe440Leu) c.1201T>C (p.Phe401Leu) c.1183T>C (p.Phe395Leu) | |
| 3 | g.69965036T>G | CA353559700 | MITF | c.1303T>G (p.Phe435Val) c.1300T>G (p.Phe434Val) n.1525T>G c.1276T>G (p.Phe426Val) c.*114T>G (n.*114T>G) c.1369T>G (p.Phe457Val) c.1048T>G (p.Phe350Val) c.1348T>G (p.Phe450Val) c.1351T>G (p.Phe451Val) c.1030T>G (p.Phe344Val) c.1195T>G (p.Phe399Val) c.*695T>G (n.*695T>G) c.862T>G (p.Phe288Val) c.1321T>G (p.Phe441Val) c.1213T>G (p.Phe405Val) c.1366T>G (p.Phe456Val) c.1318T>G (p.Phe440Val) c.1201T>G (p.Phe401Val) c.1183T>G (p.Phe395Val) | |
| 3 | g.69965037T>A | CA353559703 | MITF | c.1304T>A (p.Phe435Tyr) c.1301T>A (p.Phe434Tyr) n.1526T>A c.1277T>A (p.Phe426Tyr) c.*115T>A (n.*115T>A) c.1370T>A (p.Phe457Tyr) c.1049T>A (p.Phe350Tyr) c.1349T>A (p.Phe450Tyr) c.1352T>A (p.Phe451Tyr) c.1031T>A (p.Phe344Tyr) c.1196T>A (p.Phe399Tyr) c.*696T>A (n.*696T>A) c.863T>A (p.Phe288Tyr) c.1322T>A (p.Phe441Tyr) c.1214T>A (p.Phe405Tyr) c.1367T>A (p.Phe456Tyr) c.1319T>A (p.Phe440Tyr) c.1202T>A (p.Phe401Tyr) c.1184T>A (p.Phe395Tyr) | |
| 3 | g.69965037T>C | CA2490649 | MITF | c.1304T>C (p.Phe435Ser) c.1301T>C (p.Phe434Ser) n.1526T>C c.1277T>C (p.Phe426Ser) c.*115T>C (n.*115T>C) c.1370T>C (p.Phe457Ser) c.1049T>C (p.Phe350Ser) c.1349T>C (p.Phe450Ser) c.1352T>C (p.Phe451Ser) c.1031T>C (p.Phe344Ser) c.1196T>C (p.Phe399Ser) c.*696T>C (n.*696T>C) c.863T>C (p.Phe288Ser) c.1322T>C (p.Phe441Ser) c.1214T>C (p.Phe405Ser) c.1367T>C (p.Phe456Ser) c.1319T>C (p.Phe440Ser) c.1202T>C (p.Phe401Ser) c.1184T>C (p.Phe395Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965037T>G | CA353559704 | MITF | c.1304T>G (p.Phe435Cys) c.1301T>G (p.Phe434Cys) n.1526T>G c.1277T>G (p.Phe426Cys) c.*115T>G (n.*115T>G) c.1370T>G (p.Phe457Cys) c.1049T>G (p.Phe350Cys) c.1349T>G (p.Phe450Cys) c.1352T>G (p.Phe451Cys) c.1031T>G (p.Phe344Cys) c.1196T>G (p.Phe399Cys) c.*696T>G (n.*696T>G) c.863T>G (p.Phe288Cys) c.1322T>G (p.Phe441Cys) c.1214T>G (p.Phe405Cys) c.1367T>G (p.Phe456Cys) c.1319T>G (p.Phe440Cys) c.1202T>G (p.Phe401Cys) c.1184T>G (p.Phe395Cys) | |
| 3 | g.69965037T= | CA1373414223 | MITF | c.1304T= (p.Phe435=) c.1301T= (p.Phe434=) n.1526T= c.1277T= (p.Phe426=) c.*115T= (n.*115T=) c.1370T= (p.Phe457=) c.1049T= (p.Phe350=) c.1349T= (p.Phe450=) c.1352T= (p.Phe451=) c.1031T= (p.Phe344=) c.1196T= (p.Phe399=) c.*696T= (n.*696T=) c.863T= (p.Phe288=) c.1322T= (p.Phe441=) c.1214T= (p.Phe405=) c.1367T= (p.Phe456=) c.1319T= (p.Phe440=) c.1202T= (p.Phe401=) c.1184T= (p.Phe395=) | |
| 3 | g.69965038C>A | CA353559705 | MITF | c.1305C>A (p.Phe435Leu) c.1302C>A (p.Phe434Leu) n.1527C>A c.1278C>A (p.Phe426Leu) c.*116C>A (n.*116C>A) c.1371C>A (p.Phe457Leu) c.1050C>A (p.Phe350Leu) c.1350C>A (p.Phe450Leu) c.1353C>A (p.Phe451Leu) c.1032C>A (p.Phe344Leu) c.1197C>A (p.Phe399Leu) c.*697C>A (n.*697C>A) c.864C>A (p.Phe288Leu) c.1323C>A (p.Phe441Leu) c.1215C>A (p.Phe405Leu) c.1368C>A (p.Phe456Leu) c.1320C>A (p.Phe440Leu) c.1203C>A (p.Phe401Leu) c.1185C>A (p.Phe395Leu) | |
| 3 | g.69965038C>G | CA353559706 | MITF | c.1305C>G (p.Phe435Leu) c.1302C>G (p.Phe434Leu) n.1527C>G c.1278C>G (p.Phe426Leu) c.*116C>G (n.*116C>G) c.1371C>G (p.Phe457Leu) c.1050C>G (p.Phe350Leu) c.1350C>G (p.Phe450Leu) c.1353C>G (p.Phe451Leu) c.1032C>G (p.Phe344Leu) c.1197C>G (p.Phe399Leu) c.*697C>G (n.*697C>G) c.864C>G (p.Phe288Leu) c.1323C>G (p.Phe441Leu) c.1215C>G (p.Phe405Leu) c.1368C>G (p.Phe456Leu) c.1320C>G (p.Phe440Leu) c.1203C>G (p.Phe401Leu) c.1185C>G (p.Phe395Leu) | |
| 3 | g.69965038C>T | CA434433739 | MITF | c.1305C>T (p.Phe435=) c.1302C>T (p.Phe434=) n.1527C>T c.1278C>T (p.Phe426=) c.*116C>T (n.*116C>T) c.1371C>T (p.Phe457=) c.1050C>T (p.Phe350=) c.1350C>T (p.Phe450=) c.1353C>T (p.Phe451=) c.1032C>T (p.Phe344=) c.1197C>T (p.Phe399=) c.*697C>T (n.*697C>T) c.864C>T (p.Phe288=) c.1323C>T (p.Phe441=) c.1215C>T (p.Phe405=) c.1368C>T (p.Phe456=) c.1320C>T (p.Phe440=) c.1203C>T (p.Phe401=) c.1185C>T (p.Phe395=) | |
| 3 | g.69965039A>C | CA353559707 | MITF | c.1306A>C (p.Asn436His) c.1303A>C (p.Asn435His) n.1528A>C c.1279A>C (p.Asn427His) c.*117A>C (n.*117A>C) c.1372A>C (p.Asn458His) c.1051A>C (p.Asn351His) c.1351A>C (p.Asn451His) c.1354A>C (p.Asn452His) c.1033A>C (p.Asn345His) c.1198A>C (p.Asn400His) c.*698A>C (n.*698A>C) c.865A>C (p.Asn289His) c.1324A>C (p.Asn442His) c.1216A>C (p.Asn406His) c.1369A>C (p.Asn457His) c.1321A>C (p.Asn441His) c.1204A>C (p.Asn402His) c.1186A>C (p.Asn396His) | |
| 3 | g.69965039A>G | CA353559708 | MITF | c.1306A>G (p.Asn436Asp) c.1303A>G (p.Asn435Asp) n.1528A>G c.1279A>G (p.Asn427Asp) c.*117A>G (n.*117A>G) c.1372A>G (p.Asn458Asp) c.1051A>G (p.Asn351Asp) c.1351A>G (p.Asn451Asp) c.1354A>G (p.Asn452Asp) c.1033A>G (p.Asn345Asp) c.1198A>G (p.Asn400Asp) c.*698A>G (n.*698A>G) c.865A>G (p.Asn289Asp) c.1324A>G (p.Asn442Asp) c.1216A>G (p.Asn406Asp) c.1369A>G (p.Asn457Asp) c.1321A>G (p.Asn441Asp) c.1204A>G (p.Asn402Asp) c.1186A>G (p.Asn396Asp) | gnomAD v4 |
| 3 | g.69965039A>T | CA353559709 | MITF | c.1306A>T (p.Asn436Tyr) c.1303A>T (p.Asn435Tyr) n.1528A>T c.1279A>T (p.Asn427Tyr) c.*117A>T (n.*117A>T) c.1372A>T (p.Asn458Tyr) c.1051A>T (p.Asn351Tyr) c.1351A>T (p.Asn451Tyr) c.1354A>T (p.Asn452Tyr) c.1033A>T (p.Asn345Tyr) c.1198A>T (p.Asn400Tyr) c.*698A>T (n.*698A>T) c.865A>T (p.Asn289Tyr) c.1324A>T (p.Asn442Tyr) c.1216A>T (p.Asn406Tyr) c.1369A>T (p.Asn457Tyr) c.1321A>T (p.Asn441Tyr) c.1204A>T (p.Asn402Tyr) c.1186A>T (p.Asn396Tyr) | |
| 3 | g.69965040A= | CA1373414226 | MITF | c.1307A= (p.Asn436=) c.1304A= (p.Asn435=) n.1529A= c.1280A= (p.Asn427=) c.*118A= (n.*118A=) c.1373A= (p.Asn458=) c.1052A= (p.Asn351=) c.1352A= (p.Asn451=) c.1355A= (p.Asn452=) c.1034A= (p.Asn345=) c.1199A= (p.Asn400=) c.*699A= (n.*699A=) c.866A= (p.Asn289=) c.1325A= (p.Asn442=) c.1217A= (p.Asn406=) c.1370A= (p.Asn457=) c.1322A= (p.Asn441=) c.1205A= (p.Asn402=) c.1187A= (p.Asn396=) | |
| 3 | g.69965040A>C | CA353559710 | MITF | c.1307A>C (p.Asn436Thr) c.1304A>C (p.Asn435Thr) n.1529A>C c.1280A>C (p.Asn427Thr) c.*118A>C (n.*118A>C) c.1373A>C (p.Asn458Thr) c.1052A>C (p.Asn351Thr) c.1352A>C (p.Asn451Thr) c.1355A>C (p.Asn452Thr) c.1034A>C (p.Asn345Thr) c.1199A>C (p.Asn400Thr) c.*699A>C (n.*699A>C) c.866A>C (p.Asn289Thr) c.1325A>C (p.Asn442Thr) c.1217A>C (p.Asn406Thr) c.1370A>C (p.Asn457Thr) c.1322A>C (p.Asn441Thr) c.1205A>C (p.Asn402Thr) c.1187A>C (p.Asn396Thr) | |
| 3 | g.69965040A>G | CA353559711 | MITF | c.1307A>G (p.Asn436Ser) c.1304A>G (p.Asn435Ser) n.1529A>G c.1280A>G (p.Asn427Ser) c.*118A>G (n.*118A>G) c.1373A>G (p.Asn458Ser) c.1052A>G (p.Asn351Ser) c.1352A>G (p.Asn451Ser) c.1355A>G (p.Asn452Ser) c.1034A>G (p.Asn345Ser) c.1199A>G (p.Asn400Ser) c.*699A>G (n.*699A>G) c.866A>G (p.Asn289Ser) c.1325A>G (p.Asn442Ser) c.1217A>G (p.Asn406Ser) c.1370A>G (p.Asn457Ser) c.1322A>G (p.Asn441Ser) c.1205A>G (p.Asn402Ser) c.1187A>G (p.Asn396Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965040A>T | CA353559712 | MITF | c.1307A>T (p.Asn436Ile) c.1304A>T (p.Asn435Ile) n.1529A>T c.1280A>T (p.Asn427Ile) c.*118A>T (n.*118A>T) c.1373A>T (p.Asn458Ile) c.1052A>T (p.Asn351Ile) c.1352A>T (p.Asn451Ile) c.1355A>T (p.Asn452Ile) c.1034A>T (p.Asn345Ile) c.1199A>T (p.Asn400Ile) c.*699A>T (n.*699A>T) c.866A>T (p.Asn289Ile) c.1325A>T (p.Asn442Ile) c.1217A>T (p.Asn406Ile) c.1370A>T (p.Asn457Ile) c.1322A>T (p.Asn441Ile) c.1205A>T (p.Asn402Ile) c.1187A>T (p.Asn396Ile) | |
| 3 | g.69965041C>A | CA353559713 | MITF | c.1308C>A (p.Asn436Lys) c.1305C>A (p.Asn435Lys) n.1530C>A c.1281C>A (p.Asn427Lys) c.*119C>A (n.*119C>A) c.1374C>A (p.Asn458Lys) c.1053C>A (p.Asn351Lys) c.1353C>A (p.Asn451Lys) c.1356C>A (p.Asn452Lys) c.1035C>A (p.Asn345Lys) c.1200C>A (p.Asn400Lys) c.*700C>A (n.*700C>A) c.867C>A (p.Asn289Lys) c.1326C>A (p.Asn442Lys) c.1218C>A (p.Asn406Lys) c.1371C>A (p.Asn457Lys) c.1323C>A (p.Asn441Lys) c.1206C>A (p.Asn402Lys) c.1188C>A (p.Asn396Lys) | dbSNP gnomAD v4 |
| 3 | g.69965041C>G | CA353559714 | MITF | c.1308C>G (p.Asn436Lys) c.1305C>G (p.Asn435Lys) n.1530C>G c.1281C>G (p.Asn427Lys) c.*119C>G (n.*119C>G) c.1374C>G (p.Asn458Lys) c.1053C>G (p.Asn351Lys) c.1353C>G (p.Asn451Lys) c.1356C>G (p.Asn452Lys) c.1035C>G (p.Asn345Lys) c.1200C>G (p.Asn400Lys) c.*700C>G (n.*700C>G) c.867C>G (p.Asn289Lys) c.1326C>G (p.Asn442Lys) c.1218C>G (p.Asn406Lys) c.1371C>G (p.Asn457Lys) c.1323C>G (p.Asn441Lys) c.1206C>G (p.Asn402Lys) c.1188C>G (p.Asn396Lys) | |
| 3 | g.69965041C>T | CA434433740 | MITF | c.1308C>T (p.Asn436=) c.1305C>T (p.Asn435=) n.1530C>T c.1281C>T (p.Asn427=) c.*119C>T (n.*119C>T) c.1374C>T (p.Asn458=) c.1053C>T (p.Asn351=) c.1353C>T (p.Asn451=) c.1356C>T (p.Asn452=) c.1035C>T (p.Asn345=) c.1200C>T (p.Asn400=) c.*700C>T (n.*700C>T) c.867C>T (p.Asn289=) c.1326C>T (p.Asn442=) c.1218C>T (p.Asn406=) c.1371C>T (p.Asn457=) c.1323C>T (p.Asn441=) c.1206C>T (p.Asn402=) c.1188C>T (p.Asn396=) | gnomAD v4 |
| 3 | g.69965042A= | CA1373414231 | MITF | c.1309A= (p.Asn437=) c.1306A= (p.Asn436=) n.1531A= c.1282A= (p.Asn428=) c.*120A= (n.*120A=) c.1375A= (p.Asn459=) c.1054A= (p.Asn352=) c.1354A= (p.Asn452=) c.1357A= (p.Asn453=) c.1036A= (p.Asn346=) c.1201A= (p.Asn401=) c.*701A= (n.*701A=) c.868A= (p.Asn290=) c.1327A= (p.Asn443=) c.1219A= (p.Asn407=) c.1372A= (p.Asn458=) c.1324A= (p.Asn442=) c.1207A= (p.Asn403=) c.1189A= (p.Asn397=) | |
| 3 | g.69965042A>C | CA353559717 | MITF | c.1309A>C (p.Asn437His) c.1306A>C (p.Asn436His) n.1531A>C c.1282A>C (p.Asn428His) c.*120A>C (n.*120A>C) c.1375A>C (p.Asn459His) c.1054A>C (p.Asn352His) c.1354A>C (p.Asn452His) c.1357A>C (p.Asn453His) c.1036A>C (p.Asn346His) c.1201A>C (p.Asn401His) c.*701A>C (n.*701A>C) c.868A>C (p.Asn290His) c.1327A>C (p.Asn443His) c.1219A>C (p.Asn407His) c.1372A>C (p.Asn458His) c.1324A>C (p.Asn442His) c.1207A>C (p.Asn403His) c.1189A>C (p.Asn397His) | |
| 3 | g.69965042A>G | CA353559716 | MITF | c.1309A>G (p.Asn437Asp) c.1306A>G (p.Asn436Asp) n.1531A>G c.1282A>G (p.Asn428Asp) c.*120A>G (n.*120A>G) c.1375A>G (p.Asn459Asp) c.1054A>G (p.Asn352Asp) c.1354A>G (p.Asn452Asp) c.1357A>G (p.Asn453Asp) c.1036A>G (p.Asn346Asp) c.1201A>G (p.Asn401Asp) c.*701A>G (n.*701A>G) c.868A>G (p.Asn290Asp) c.1327A>G (p.Asn443Asp) c.1219A>G (p.Asn407Asp) c.1372A>G (p.Asn458Asp) c.1324A>G (p.Asn442Asp) c.1207A>G (p.Asn403Asp) c.1189A>G (p.Asn397Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965042A>T | CA353559715 | MITF | c.1309A>T (p.Asn437Tyr) c.1306A>T (p.Asn436Tyr) n.1531A>T c.1282A>T (p.Asn428Tyr) c.*120A>T (n.*120A>T) c.1375A>T (p.Asn459Tyr) c.1054A>T (p.Asn352Tyr) c.1354A>T (p.Asn452Tyr) c.1357A>T (p.Asn453Tyr) c.1036A>T (p.Asn346Tyr) c.1201A>T (p.Asn401Tyr) c.*701A>T (n.*701A>T) c.868A>T (p.Asn290Tyr) c.1327A>T (p.Asn443Tyr) c.1219A>T (p.Asn407Tyr) c.1372A>T (p.Asn458Tyr) c.1324A>T (p.Asn442Tyr) c.1207A>T (p.Asn403Tyr) c.1189A>T (p.Asn397Tyr) | |
| 3 | g.69965043A>C | CA353559719 | MITF | c.1310A>C (p.Asn437Thr) c.1307A>C (p.Asn436Thr) n.1532A>C c.1283A>C (p.Asn428Thr) c.*121A>C (n.*121A>C) c.1376A>C (p.Asn459Thr) c.1055A>C (p.Asn352Thr) c.1355A>C (p.Asn452Thr) c.1358A>C (p.Asn453Thr) c.1037A>C (p.Asn346Thr) c.1202A>C (p.Asn401Thr) c.*702A>C (n.*702A>C) c.869A>C (p.Asn290Thr) c.1328A>C (p.Asn443Thr) c.1220A>C (p.Asn407Thr) c.1373A>C (p.Asn458Thr) c.1325A>C (p.Asn442Thr) c.1208A>C (p.Asn403Thr) c.1190A>C (p.Asn397Thr) | |
| 3 | g.69965043A>G | CA353559718 | MITF | c.1310A>G (p.Asn437Ser) c.1307A>G (p.Asn436Ser) n.1532A>G c.1283A>G (p.Asn428Ser) c.*121A>G (n.*121A>G) c.1376A>G (p.Asn459Ser) c.1055A>G (p.Asn352Ser) c.1355A>G (p.Asn452Ser) c.1358A>G (p.Asn453Ser) c.1037A>G (p.Asn346Ser) c.1202A>G (p.Asn401Ser) c.*702A>G (n.*702A>G) c.869A>G (p.Asn290Ser) c.1328A>G (p.Asn443Ser) c.1220A>G (p.Asn407Ser) c.1373A>G (p.Asn458Ser) c.1325A>G (p.Asn442Ser) c.1208A>G (p.Asn403Ser) c.1190A>G (p.Asn397Ser) | |
| 3 | g.69965043A>T | CA353559720 | MITF | c.1310A>T (p.Asn437Ile) c.1307A>T (p.Asn436Ile) n.1532A>T c.1283A>T (p.Asn428Ile) c.*121A>T (n.*121A>T) c.1376A>T (p.Asn459Ile) c.1055A>T (p.Asn352Ile) c.1355A>T (p.Asn452Ile) c.1358A>T (p.Asn453Ile) c.1037A>T (p.Asn346Ile) c.1202A>T (p.Asn401Ile) c.*702A>T (n.*702A>T) c.869A>T (p.Asn290Ile) c.1328A>T (p.Asn443Ile) c.1220A>T (p.Asn407Ile) c.1373A>T (p.Asn458Ile) c.1325A>T (p.Asn442Ile) c.1208A>T (p.Asn403Ile) c.1190A>T (p.Asn397Ile) | dbSNP |
| 3 | g.69965043_69965044delinsAC | CA1373414234 | MITF | c.1310_1311delinsAC (p.Asn437=) c.1307_1308delinsAC (p.Asn436=) n.1532_1533delinsAC c.1283_1284delinsAC (p.Asn428=) c.*121_*122delinsAC (n.*121_*122delinsAC) c.1376_1377delinsAC (p.Asn459=) c.1055_1056delinsAC (p.Asn352=) c.1355_1356delinsAC (p.Asn452=) c.1358_1359delinsAC (p.Asn453=) c.1037_1038delinsAC (p.Asn346=) c.1202_1203delinsAC (p.Asn401=) c.*702_*703delinsAC (n.*702_*703delinsAC) c.869_870delinsAC (p.Asn290=) c.1328_1329delinsAC (p.Asn443=) c.1220_1221delinsAC (p.Asn407=) c.1373_1374delinsAC (p.Asn458=) c.1325_1326delinsAC (p.Asn442=) c.1208_1209delinsAC (p.Asn403=) c.1190_1191delinsAC (p.Asn397=) | |
| 3 | g.69965044del | CA1139658161 | MITF | c.1311del (p.Asn437LysfsTer27) c.1308del (p.Asn436LysfsTer27) n.1533del c.1284del (p.Asn428LysfsTer27) c.*122del (n.*122del) c.1377del (p.Asn459LysfsTer27) c.1056del (p.Asn352LysfsTer27) c.1356del (p.Asn452LysfsTer27) c.1359del (p.Asn453LysfsTer27) c.1038del (p.Asn346LysfsTer27) c.1203del (p.Asn401LysfsTer27) c.*703del (n.*703del) c.870del (p.Asn290LysfsTer27) c.1329del (p.Asn443LysfsTer27) c.1221del (p.Asn407LysfsTer27) c.1374del (p.Asn458LysfsTer27) c.1326del (p.Asn442LysfsTer27) c.1209del (p.Asn403LysfsTer27) c.1191del (p.Asn397LysfsTer27) | ClinVar dbSNP |
| 3 | g.69965044C>A | CA353559721 | MITF | c.1311C>A (p.Asn437Lys) c.1308C>A (p.Asn436Lys) n.1533C>A c.1284C>A (p.Asn428Lys) c.*122C>A (n.*122C>A) c.1377C>A (p.Asn459Lys) c.1056C>A (p.Asn352Lys) c.1356C>A (p.Asn452Lys) c.1359C>A (p.Asn453Lys) c.1038C>A (p.Asn346Lys) c.1203C>A (p.Asn401Lys) c.*703C>A (n.*703C>A) c.870C>A (p.Asn290Lys) c.1329C>A (p.Asn443Lys) c.1221C>A (p.Asn407Lys) c.1374C>A (p.Asn458Lys) c.1326C>A (p.Asn442Lys) c.1209C>A (p.Asn403Lys) c.1191C>A (p.Asn397Lys) | gnomAD v4 |
| 3 | g.69965044C= | CA1373414240 | MITF | c.1311C= (p.Asn437=) c.1308C= (p.Asn436=) n.1533C= c.1284C= (p.Asn428=) c.*122C= (n.*122C=) c.1377C= (p.Asn459=) c.1056C= (p.Asn352=) c.1356C= (p.Asn452=) c.1359C= (p.Asn453=) c.1038C= (p.Asn346=) c.1203C= (p.Asn401=) c.*703C= (n.*703C=) c.870C= (p.Asn290=) c.1329C= (p.Asn443=) c.1221C= (p.Asn407=) c.1374C= (p.Asn458=) c.1326C= (p.Asn442=) c.1209C= (p.Asn403=) c.1191C= (p.Asn397=) | |
| 3 | g.69965044C>G | CA77003526 | MITF | c.1311C>G (p.Asn437Lys) c.1308C>G (p.Asn436Lys) n.1533C>G c.1284C>G (p.Asn428Lys) c.*122C>G (n.*122C>G) c.1377C>G (p.Asn459Lys) c.1056C>G (p.Asn352Lys) c.1356C>G (p.Asn452Lys) c.1359C>G (p.Asn453Lys) c.1038C>G (p.Asn346Lys) c.1203C>G (p.Asn401Lys) c.*703C>G (n.*703C>G) c.870C>G (p.Asn290Lys) c.1329C>G (p.Asn443Lys) c.1221C>G (p.Asn407Lys) c.1374C>G (p.Asn458Lys) c.1326C>G (p.Asn442Lys) c.1209C>G (p.Asn403Lys) c.1191C>G (p.Asn397Lys) | dbSNP gnomAD v4 |
| 3 | g.69965044C>T | CA434433742 | MITF | c.1311C>T (p.Asn437=) c.1308C>T (p.Asn436=) n.1533C>T c.1284C>T (p.Asn428=) c.*122C>T (n.*122C>T) c.1377C>T (p.Asn459=) c.1056C>T (p.Asn352=) c.1356C>T (p.Asn452=) c.1359C>T (p.Asn453=) c.1038C>T (p.Asn346=) c.1203C>T (p.Asn401=) c.*703C>T (n.*703C>T) c.870C>T (p.Asn290=) c.1329C>T (p.Asn443=) c.1221C>T (p.Asn407=) c.1374C>T (p.Asn458=) c.1326C>T (p.Asn442=) c.1209C>T (p.Asn403=) c.1191C>T (p.Asn397=) | |
| 3 | g.69965045A>C | CA353559722 | MITF | c.1312A>C (p.Asn438His) c.1309A>C (p.Asn437His) n.1534A>C c.1285A>C (p.Asn429His) c.*123A>C (n.*123A>C) c.1378A>C (p.Asn460His) c.1057A>C (p.Asn353His) c.1357A>C (p.Asn453His) c.1360A>C (p.Asn454His) c.1039A>C (p.Asn347His) c.1204A>C (p.Asn402His) c.*704A>C (n.*704A>C) c.871A>C (p.Asn291His) c.1330A>C (p.Asn444His) c.1222A>C (p.Asn408His) c.1375A>C (p.Asn459His) c.1327A>C (p.Asn443His) c.1210A>C (p.Asn404His) c.1192A>C (p.Asn398His) | |
| 3 | g.69965045A>G | CA353559723 | MITF | c.1312A>G (p.Asn438Asp) c.1309A>G (p.Asn437Asp) n.1534A>G c.1285A>G (p.Asn429Asp) c.*123A>G (n.*123A>G) c.1378A>G (p.Asn460Asp) c.1057A>G (p.Asn353Asp) c.1357A>G (p.Asn453Asp) c.1360A>G (p.Asn454Asp) c.1039A>G (p.Asn347Asp) c.1204A>G (p.Asn402Asp) c.*704A>G (n.*704A>G) c.871A>G (p.Asn291Asp) c.1330A>G (p.Asn444Asp) c.1222A>G (p.Asn408Asp) c.1375A>G (p.Asn459Asp) c.1327A>G (p.Asn443Asp) c.1210A>G (p.Asn404Asp) c.1192A>G (p.Asn398Asp) | |
| 3 | g.69965045A>T | CA353559724 | MITF | c.1312A>T (p.Asn438Tyr) c.1309A>T (p.Asn437Tyr) n.1534A>T c.1285A>T (p.Asn429Tyr) c.*123A>T (n.*123A>T) c.1378A>T (p.Asn460Tyr) c.1057A>T (p.Asn353Tyr) c.1357A>T (p.Asn453Tyr) c.1360A>T (p.Asn454Tyr) c.1039A>T (p.Asn347Tyr) c.1204A>T (p.Asn402Tyr) c.*704A>T (n.*704A>T) c.871A>T (p.Asn291Tyr) c.1330A>T (p.Asn444Tyr) c.1222A>T (p.Asn408Tyr) c.1375A>T (p.Asn459Tyr) c.1327A>T (p.Asn443Tyr) c.1210A>T (p.Asn404Tyr) c.1192A>T (p.Asn398Tyr) | |
| 3 | g.69965046A= | CA1373414247 | MITF | c.1313A= (p.Asn438=) c.1310A= (p.Asn437=) n.1535A= c.1286A= (p.Asn429=) c.*124A= (n.*124A=) c.1379A= (p.Asn460=) c.1058A= (p.Asn353=) c.1358A= (p.Asn453=) c.1361A= (p.Asn454=) c.1040A= (p.Asn347=) c.1205A= (p.Asn402=) c.*705A= (n.*705A=) c.872A= (p.Asn291=) c.1331A= (p.Asn444=) c.1223A= (p.Asn408=) c.1376A= (p.Asn459=) c.1328A= (p.Asn443=) c.1211A= (p.Asn404=) c.1193A= (p.Asn398=) | |
| 3 | g.69965046A>C | CA353559725 | MITF | c.1313A>C (p.Asn438Thr) c.1310A>C (p.Asn437Thr) n.1535A>C c.1286A>C (p.Asn429Thr) c.*124A>C (n.*124A>C) c.1379A>C (p.Asn460Thr) c.1058A>C (p.Asn353Thr) c.1358A>C (p.Asn453Thr) c.1361A>C (p.Asn454Thr) c.1040A>C (p.Asn347Thr) c.1205A>C (p.Asn402Thr) c.*705A>C (n.*705A>C) c.872A>C (p.Asn291Thr) c.1331A>C (p.Asn444Thr) c.1223A>C (p.Asn408Thr) c.1376A>C (p.Asn459Thr) c.1328A>C (p.Asn443Thr) c.1211A>C (p.Asn404Thr) c.1193A>C (p.Asn398Thr) | |
| 3 | g.69965046A>G | CA2490650 | MITF | c.1313A>G (p.Asn438Ser) c.1310A>G (p.Asn437Ser) n.1535A>G c.1286A>G (p.Asn429Ser) c.*124A>G (n.*124A>G) c.1379A>G (p.Asn460Ser) c.1058A>G (p.Asn353Ser) c.1358A>G (p.Asn453Ser) c.1361A>G (p.Asn454Ser) c.1040A>G (p.Asn347Ser) c.1205A>G (p.Asn402Ser) c.*705A>G (n.*705A>G) c.872A>G (p.Asn291Ser) c.1331A>G (p.Asn444Ser) c.1223A>G (p.Asn408Ser) c.1376A>G (p.Asn459Ser) c.1328A>G (p.Asn443Ser) c.1211A>G (p.Asn404Ser) c.1193A>G (p.Asn398Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965046A>T | CA2490651 | MITF | c.1313A>T (p.Asn438Ile) c.1310A>T (p.Asn437Ile) n.1535A>T c.1286A>T (p.Asn429Ile) c.*124A>T (n.*124A>T) c.1379A>T (p.Asn460Ile) c.1058A>T (p.Asn353Ile) c.1358A>T (p.Asn453Ile) c.1361A>T (p.Asn454Ile) c.1040A>T (p.Asn347Ile) c.1205A>T (p.Asn402Ile) c.*705A>T (n.*705A>T) c.872A>T (p.Asn291Ile) c.1331A>T (p.Asn444Ile) c.1223A>T (p.Asn408Ile) c.1376A>T (p.Asn459Ile) c.1328A>T (p.Asn443Ile) c.1211A>T (p.Asn404Ile) c.1193A>T (p.Asn398Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965047C>A | CA353559726 | MITF | c.1314C>A (p.Asn438Lys) c.1311C>A (p.Asn437Lys) n.1536C>A c.1287C>A (p.Asn429Lys) c.*125C>A (n.*125C>A) c.1380C>A (p.Asn460Lys) c.1059C>A (p.Asn353Lys) c.1359C>A (p.Asn453Lys) c.1362C>A (p.Asn454Lys) c.1041C>A (p.Asn347Lys) c.1206C>A (p.Asn402Lys) c.*706C>A (n.*706C>A) c.873C>A (p.Asn291Lys) c.1332C>A (p.Asn444Lys) c.1224C>A (p.Asn408Lys) c.1377C>A (p.Asn459Lys) c.1329C>A (p.Asn443Lys) c.1212C>A (p.Asn404Lys) c.1194C>A (p.Asn398Lys) | dbSNP |
| 3 | g.69965047C= | CA1373414251 | MITF | c.1314C= (p.Asn438=) c.1311C= (p.Asn437=) n.1536C= c.1287C= (p.Asn429=) c.*125C= (n.*125C=) c.1380C= (p.Asn460=) c.1059C= (p.Asn353=) c.1359C= (p.Asn453=) c.1362C= (p.Asn454=) c.1041C= (p.Asn347=) c.1206C= (p.Asn402=) c.*706C= (n.*706C=) c.873C= (p.Asn291=) c.1332C= (p.Asn444=) c.1224C= (p.Asn408=) c.1377C= (p.Asn459=) c.1329C= (p.Asn443=) c.1212C= (p.Asn404=) c.1194C= (p.Asn398=) | |
| 3 | g.69965047C>G | CA353559727 | MITF | c.1314C>G (p.Asn438Lys) c.1311C>G (p.Asn437Lys) n.1536C>G c.1287C>G (p.Asn429Lys) c.*125C>G (n.*125C>G) c.1380C>G (p.Asn460Lys) c.1059C>G (p.Asn353Lys) c.1359C>G (p.Asn453Lys) c.1362C>G (p.Asn454Lys) c.1041C>G (p.Asn347Lys) c.1206C>G (p.Asn402Lys) c.*706C>G (n.*706C>G) c.873C>G (p.Asn291Lys) c.1332C>G (p.Asn444Lys) c.1224C>G (p.Asn408Lys) c.1377C>G (p.Asn459Lys) c.1329C>G (p.Asn443Lys) c.1212C>G (p.Asn404Lys) c.1194C>G (p.Asn398Lys) | |
| 3 | g.69965047C>T | CA434433744 | MITF | c.1314C>T (p.Asn438=) c.1311C>T (p.Asn437=) n.1536C>T c.1287C>T (p.Asn429=) c.*125C>T (n.*125C>T) c.1380C>T (p.Asn460=) c.1059C>T (p.Asn353=) c.1359C>T (p.Asn453=) c.1362C>T (p.Asn454=) c.1041C>T (p.Asn347=) c.1206C>T (p.Asn402=) c.*706C>T (n.*706C>T) c.873C>T (p.Asn291=) c.1332C>T (p.Asn444=) c.1224C>T (p.Asn408=) c.1377C>T (p.Asn459=) c.1329C>T (p.Asn443=) c.1212C>T (p.Asn404=) c.1194C>T (p.Asn398=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965048C>A | CA2490652 | MITF | c.1315C>A (p.Leu439Ile) c.1312C>A (p.Leu438Ile) n.1537C>A c.1288C>A (p.Leu430Ile) c.*126C>A (n.*126C>A) c.1381C>A (p.Leu461Ile) c.1060C>A (p.Leu354Ile) c.1360C>A (p.Leu454Ile) c.1363C>A (p.Leu455Ile) c.1042C>A (p.Leu348Ile) c.1207C>A (p.Leu403Ile) c.*707C>A (n.*707C>A) c.874C>A (p.Leu292Ile) c.1333C>A (p.Leu445Ile) c.1225C>A (p.Leu409Ile) c.1378C>A (p.Leu460Ile) c.1330C>A (p.Leu444Ile) c.1213C>A (p.Leu405Ile) c.1195C>A (p.Leu399Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965048C= | CA1373414256 | MITF | c.1315C= (p.Leu439=) c.1312C= (p.Leu438=) n.1537C= c.1288C= (p.Leu430=) c.*126C= (n.*126C=) c.1381C= (p.Leu461=) c.1060C= (p.Leu354=) c.1360C= (p.Leu454=) c.1363C= (p.Leu455=) c.1042C= (p.Leu348=) c.1207C= (p.Leu403=) c.*707C= (n.*707C=) c.874C= (p.Leu292=) c.1333C= (p.Leu445=) c.1225C= (p.Leu409=) c.1378C= (p.Leu460=) c.1330C= (p.Leu444=) c.1213C= (p.Leu405=) c.1195C= (p.Leu399=) | |
| 3 | g.69965048C>G | CA353559728 | MITF | c.1315C>G (p.Leu439Val) c.1312C>G (p.Leu438Val) n.1537C>G c.1288C>G (p.Leu430Val) c.*126C>G (n.*126C>G) c.1381C>G (p.Leu461Val) c.1060C>G (p.Leu354Val) c.1360C>G (p.Leu454Val) c.1363C>G (p.Leu455Val) c.1042C>G (p.Leu348Val) c.1207C>G (p.Leu403Val) c.*707C>G (n.*707C>G) c.874C>G (p.Leu292Val) c.1333C>G (p.Leu445Val) c.1225C>G (p.Leu409Val) c.1378C>G (p.Leu460Val) c.1330C>G (p.Leu444Val) c.1213C>G (p.Leu405Val) c.1195C>G (p.Leu399Val) | |
| 3 | g.69965048C>T | CA353559729 | MITF | c.1315C>T (p.Leu439Phe) c.1312C>T (p.Leu438Phe) n.1537C>T c.1288C>T (p.Leu430Phe) c.*126C>T (n.*126C>T) c.1381C>T (p.Leu461Phe) c.1060C>T (p.Leu354Phe) c.1360C>T (p.Leu454Phe) c.1363C>T (p.Leu455Phe) c.1042C>T (p.Leu348Phe) c.1207C>T (p.Leu403Phe) c.*707C>T (n.*707C>T) c.874C>T (p.Leu292Phe) c.1333C>T (p.Leu445Phe) c.1225C>T (p.Leu409Phe) c.1378C>T (p.Leu460Phe) c.1330C>T (p.Leu444Phe) c.1213C>T (p.Leu405Phe) c.1195C>T (p.Leu399Phe) | |
| 3 | g.69965049T>A | CA353559730 | MITF | c.1316T>A (p.Leu439His) c.1313T>A (p.Leu438His) n.1538T>A c.1289T>A (p.Leu430His) c.*127T>A (n.*127T>A) c.1382T>A (p.Leu461His) c.1061T>A (p.Leu354His) c.1361T>A (p.Leu454His) c.1364T>A (p.Leu455His) c.1043T>A (p.Leu348His) c.1208T>A (p.Leu403His) c.*708T>A (n.*708T>A) c.875T>A (p.Leu292His) c.1334T>A (p.Leu445His) c.1226T>A (p.Leu409His) c.1379T>A (p.Leu460His) c.1331T>A (p.Leu444His) c.1214T>A (p.Leu405His) c.1196T>A (p.Leu399His) | |
| 3 | g.69965049T>C | CA353559732 | MITF | c.1316T>C (p.Leu439Pro) c.1313T>C (p.Leu438Pro) n.1538T>C c.1289T>C (p.Leu430Pro) c.*127T>C (n.*127T>C) c.1382T>C (p.Leu461Pro) c.1061T>C (p.Leu354Pro) c.1361T>C (p.Leu454Pro) c.1364T>C (p.Leu455Pro) c.1043T>C (p.Leu348Pro) c.1208T>C (p.Leu403Pro) c.*708T>C (n.*708T>C) c.875T>C (p.Leu292Pro) c.1334T>C (p.Leu445Pro) c.1226T>C (p.Leu409Pro) c.1379T>C (p.Leu460Pro) c.1331T>C (p.Leu444Pro) c.1214T>C (p.Leu405Pro) c.1196T>C (p.Leu399Pro) | |
| 3 | g.69965049T>G | CA353559731 | MITF | c.1316T>G (p.Leu439Arg) c.1313T>G (p.Leu438Arg) n.1538T>G c.1289T>G (p.Leu430Arg) c.*127T>G (n.*127T>G) c.1382T>G (p.Leu461Arg) c.1061T>G (p.Leu354Arg) c.1361T>G (p.Leu454Arg) c.1364T>G (p.Leu455Arg) c.1043T>G (p.Leu348Arg) c.1208T>G (p.Leu403Arg) c.*708T>G (n.*708T>G) c.875T>G (p.Leu292Arg) c.1334T>G (p.Leu445Arg) c.1226T>G (p.Leu409Arg) c.1379T>G (p.Leu460Arg) c.1331T>G (p.Leu444Arg) c.1214T>G (p.Leu405Arg) c.1196T>G (p.Leu399Arg) | |
| 3 | g.69965050C>A | CA434433745 | MITF | c.1317C>A (p.Leu439=) c.1314C>A (p.Leu438=) n.1539C>A c.1290C>A (p.Leu430=) c.*128C>A (n.*128C>A) c.1383C>A (p.Leu461=) c.1062C>A (p.Leu354=) c.1362C>A (p.Leu454=) c.1365C>A (p.Leu455=) c.1044C>A (p.Leu348=) c.1209C>A (p.Leu403=) c.*709C>A (n.*709C>A) c.876C>A (p.Leu292=) c.1335C>A (p.Leu445=) c.1227C>A (p.Leu409=) c.1380C>A (p.Leu460=) c.1332C>A (p.Leu444=) c.1215C>A (p.Leu405=) c.1197C>A (p.Leu399=) | dbSNP |
| 3 | g.69965050C= | CA1373414258 | MITF | c.1317C= (p.Leu439=) c.1314C= (p.Leu438=) n.1539C= c.1290C= (p.Leu430=) c.*128C= (n.*128C=) c.1383C= (p.Leu461=) c.1062C= (p.Leu354=) c.1362C= (p.Leu454=) c.1365C= (p.Leu455=) c.1044C= (p.Leu348=) c.1209C= (p.Leu403=) c.*709C= (n.*709C=) c.876C= (p.Leu292=) c.1335C= (p.Leu445=) c.1227C= (p.Leu409=) c.1380C= (p.Leu460=) c.1332C= (p.Leu444=) c.1215C= (p.Leu405=) c.1197C= (p.Leu399=) | |
| 3 | g.69965050C>G | CA434433746 | MITF | c.1317C>G (p.Leu439=) c.1314C>G (p.Leu438=) n.1539C>G c.1290C>G (p.Leu430=) c.*128C>G (n.*128C>G) c.1383C>G (p.Leu461=) c.1062C>G (p.Leu354=) c.1362C>G (p.Leu454=) c.1365C>G (p.Leu455=) c.1044C>G (p.Leu348=) c.1209C>G (p.Leu403=) c.*709C>G (n.*709C>G) c.876C>G (p.Leu292=) c.1335C>G (p.Leu445=) c.1227C>G (p.Leu409=) c.1380C>G (p.Leu460=) c.1332C>G (p.Leu444=) c.1215C>G (p.Leu405=) c.1197C>G (p.Leu399=) | dbSNP |
| 3 | g.69965050C>T | CA2490653 | MITF | c.1317C>T (p.Leu439=) c.1314C>T (p.Leu438=) n.1539C>T c.1290C>T (p.Leu430=) c.*128C>T (n.*128C>T) c.1383C>T (p.Leu461=) c.1062C>T (p.Leu354=) c.1362C>T (p.Leu454=) c.1365C>T (p.Leu455=) c.1044C>T (p.Leu348=) c.1209C>T (p.Leu403=) c.*709C>T (n.*709C>T) c.876C>T (p.Leu292=) c.1335C>T (p.Leu445=) c.1227C>T (p.Leu409=) c.1380C>T (p.Leu460=) c.1332C>T (p.Leu444=) c.1215C>T (p.Leu405=) c.1197C>T (p.Leu399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965051G>A | CA2490654 | MITF | c.1318G>A (p.Gly440Arg) c.1315G>A (p.Gly439Arg) n.1540G>A c.1291G>A (p.Gly431Arg) c.*129G>A (n.*129G>A) c.1384G>A (p.Gly462Arg) c.1063G>A (p.Gly355Arg) c.1363G>A (p.Gly455Arg) c.1366G>A (p.Gly456Arg) c.1045G>A (p.Gly349Arg) c.1210G>A (p.Gly404Arg) c.*710G>A (n.*710G>A) c.877G>A (p.Gly293Arg) c.1336G>A (p.Gly446Arg) c.1228G>A (p.Gly410Arg) c.1381G>A (p.Gly461Arg) c.1333G>A (p.Gly445Arg) c.1216G>A (p.Gly406Arg) c.1198G>A (p.Gly400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965051G>C | CA353559733 | MITF | c.1318G>C (p.Gly440Arg) c.1315G>C (p.Gly439Arg) n.1540G>C c.1291G>C (p.Gly431Arg) c.*129G>C (n.*129G>C) c.1384G>C (p.Gly462Arg) c.1063G>C (p.Gly355Arg) c.1363G>C (p.Gly455Arg) c.1366G>C (p.Gly456Arg) c.1045G>C (p.Gly349Arg) c.1210G>C (p.Gly404Arg) c.*710G>C (n.*710G>C) c.877G>C (p.Gly293Arg) c.1336G>C (p.Gly446Arg) c.1228G>C (p.Gly410Arg) c.1381G>C (p.Gly461Arg) c.1333G>C (p.Gly445Arg) c.1216G>C (p.Gly406Arg) c.1198G>C (p.Gly400Arg) | dbSNP |
| 3 | g.69965051G= | CA1373414263 | MITF | c.1318G= (p.Gly440=) c.1315G= (p.Gly439=) n.1540G= c.1291G= (p.Gly431=) c.*129G= (n.*129G=) c.1384G= (p.Gly462=) c.1063G= (p.Gly355=) c.1363G= (p.Gly455=) c.1366G= (p.Gly456=) c.1045G= (p.Gly349=) c.1210G= (p.Gly404=) c.*710G= (n.*710G=) c.877G= (p.Gly293=) c.1336G= (p.Gly446=) c.1228G= (p.Gly410=) c.1381G= (p.Gly461=) c.1333G= (p.Gly445=) c.1216G= (p.Gly406=) c.1198G= (p.Gly400=) | |
| 3 | g.69965051G>T | CA353559734 | MITF | c.1318G>T (p.Gly440Ter) c.1315G>T (p.Gly439Ter) n.1540G>T c.1291G>T (p.Gly431Ter) c.*129G>T (n.*129G>T) c.1384G>T (p.Gly462Ter) c.1063G>T (p.Gly355Ter) c.1363G>T (p.Gly455Ter) c.1366G>T (p.Gly456Ter) c.1045G>T (p.Gly349Ter) c.1210G>T (p.Gly404Ter) c.*710G>T (n.*710G>T) c.877G>T (p.Gly293Ter) c.1336G>T (p.Gly446Ter) c.1228G>T (p.Gly410Ter) c.1381G>T (p.Gly461Ter) c.1333G>T (p.Gly445Ter) c.1216G>T (p.Gly406Ter) c.1198G>T (p.Gly400Ter) | |
| 3 | g.69965052G>A | CA353559735 | MITF | c.1319G>A (p.Gly440Glu) c.1316G>A (p.Gly439Glu) n.1541G>A c.1292G>A (p.Gly431Glu) c.*130G>A (n.*130G>A) c.1385G>A (p.Gly462Glu) c.1064G>A (p.Gly355Glu) c.1364G>A (p.Gly455Glu) c.1367G>A (p.Gly456Glu) c.1046G>A (p.Gly349Glu) c.1211G>A (p.Gly404Glu) c.*711G>A (n.*711G>A) c.878G>A (p.Gly293Glu) c.1337G>A (p.Gly446Glu) c.1229G>A (p.Gly410Glu) c.1382G>A (p.Gly461Glu) c.1334G>A (p.Gly445Glu) c.1217G>A (p.Gly406Glu) c.1199G>A (p.Gly400Glu) | |
| 3 | g.69965052G>C | CA353559736 | MITF | c.1319G>C (p.Gly440Ala) c.1316G>C (p.Gly439Ala) n.1541G>C c.1292G>C (p.Gly431Ala) c.*130G>C (n.*130G>C) c.1385G>C (p.Gly462Ala) c.1064G>C (p.Gly355Ala) c.1364G>C (p.Gly455Ala) c.1367G>C (p.Gly456Ala) c.1046G>C (p.Gly349Ala) c.1211G>C (p.Gly404Ala) c.*711G>C (n.*711G>C) c.878G>C (p.Gly293Ala) c.1337G>C (p.Gly446Ala) c.1229G>C (p.Gly410Ala) c.1382G>C (p.Gly461Ala) c.1334G>C (p.Gly445Ala) c.1217G>C (p.Gly406Ala) c.1199G>C (p.Gly400Ala) | dbSNP |
| 3 | g.69965052G>T | CA353559737 | MITF | c.1319G>T (p.Gly440Val) c.1316G>T (p.Gly439Val) n.1541G>T c.1292G>T (p.Gly431Val) c.*130G>T (n.*130G>T) c.1385G>T (p.Gly462Val) c.1064G>T (p.Gly355Val) c.1364G>T (p.Gly455Val) c.1367G>T (p.Gly456Val) c.1046G>T (p.Gly349Val) c.1211G>T (p.Gly404Val) c.*711G>T (n.*711G>T) c.878G>T (p.Gly293Val) c.1337G>T (p.Gly446Val) c.1229G>T (p.Gly410Val) c.1382G>T (p.Gly461Val) c.1334G>T (p.Gly445Val) c.1217G>T (p.Gly406Val) c.1199G>T (p.Gly400Val) | gnomAD v4 |
| 3 | g.69965053A>C | CA434433748 | MITF | c.1320A>C (p.Gly440=) c.1317A>C (p.Gly439=) n.1542A>C c.1293A>C (p.Gly431=) c.*131A>C (n.*131A>C) c.1386A>C (p.Gly462=) c.1065A>C (p.Gly355=) c.1365A>C (p.Gly455=) c.1368A>C (p.Gly456=) c.1047A>C (p.Gly349=) c.1212A>C (p.Gly404=) c.*712A>C (n.*712A>C) c.879A>C (p.Gly293=) c.1338A>C (p.Gly446=) c.1230A>C (p.Gly410=) c.1383A>C (p.Gly461=) c.1335A>C (p.Gly445=) c.1218A>C (p.Gly406=) c.1200A>C (p.Gly400=) | |
| 3 | g.69965053A>G | CA434433749 | MITF | c.1320A>G (p.Gly440=) c.1317A>G (p.Gly439=) n.1542A>G c.1293A>G (p.Gly431=) c.*131A>G (n.*131A>G) c.1386A>G (p.Gly462=) c.1065A>G (p.Gly355=) c.1365A>G (p.Gly455=) c.1368A>G (p.Gly456=) c.1047A>G (p.Gly349=) c.1212A>G (p.Gly404=) c.*712A>G (n.*712A>G) c.879A>G (p.Gly293=) c.1338A>G (p.Gly446=) c.1230A>G (p.Gly410=) c.1383A>G (p.Gly461=) c.1335A>G (p.Gly445=) c.1218A>G (p.Gly406=) c.1200A>G (p.Gly400=) | |
| 3 | g.69965053A>T | CA434433750 | MITF | c.1320A>T (p.Gly440=) c.1317A>T (p.Gly439=) n.1542A>T c.1293A>T (p.Gly431=) c.*131A>T (n.*131A>T) c.1386A>T (p.Gly462=) c.1065A>T (p.Gly355=) c.1365A>T (p.Gly455=) c.1368A>T (p.Gly456=) c.1047A>T (p.Gly349=) c.1212A>T (p.Gly404=) c.*712A>T (n.*712A>T) c.879A>T (p.Gly293=) c.1338A>T (p.Gly446=) c.1230A>T (p.Gly410=) c.1383A>T (p.Gly461=) c.1335A>T (p.Gly445=) c.1218A>T (p.Gly406=) c.1200A>T (p.Gly400=) | |
| 3 | g.69965054A>C | CA353559738 | MITF | c.1321A>C (p.Thr441Pro) c.1318A>C (p.Thr440Pro) n.1543A>C c.1294A>C (p.Thr432Pro) c.*132A>C (n.*132A>C) c.1387A>C (p.Thr463Pro) c.1066A>C (p.Thr356Pro) c.1366A>C (p.Thr456Pro) c.1369A>C (p.Thr457Pro) c.1048A>C (p.Thr350Pro) c.1213A>C (p.Thr405Pro) c.*713A>C (n.*713A>C) c.880A>C (p.Thr294Pro) c.1339A>C (p.Thr447Pro) c.1231A>C (p.Thr411Pro) c.1384A>C (p.Thr462Pro) c.1336A>C (p.Thr446Pro) c.1219A>C (p.Thr407Pro) c.1201A>C (p.Thr401Pro) | |
| 3 | g.69965054A>G | CA353559739 | MITF | c.1321A>G (p.Thr441Ala) c.1318A>G (p.Thr440Ala) n.1543A>G c.1294A>G (p.Thr432Ala) c.*132A>G (n.*132A>G) c.1387A>G (p.Thr463Ala) c.1066A>G (p.Thr356Ala) c.1366A>G (p.Thr456Ala) c.1369A>G (p.Thr457Ala) c.1048A>G (p.Thr350Ala) c.1213A>G (p.Thr405Ala) c.*713A>G (n.*713A>G) c.880A>G (p.Thr294Ala) c.1339A>G (p.Thr447Ala) c.1231A>G (p.Thr411Ala) c.1384A>G (p.Thr462Ala) c.1336A>G (p.Thr446Ala) c.1219A>G (p.Thr407Ala) c.1201A>G (p.Thr401Ala) | |
| 3 | g.69965054A>T | CA353559740 | MITF | c.1321A>T (p.Thr441Ser) c.1318A>T (p.Thr440Ser) n.1543A>T c.1294A>T (p.Thr432Ser) c.*132A>T (n.*132A>T) c.1387A>T (p.Thr463Ser) c.1066A>T (p.Thr356Ser) c.1366A>T (p.Thr456Ser) c.1369A>T (p.Thr457Ser) c.1048A>T (p.Thr350Ser) c.1213A>T (p.Thr405Ser) c.*713A>T (n.*713A>T) c.880A>T (p.Thr294Ser) c.1339A>T (p.Thr447Ser) c.1231A>T (p.Thr411Ser) c.1384A>T (p.Thr462Ser) c.1336A>T (p.Thr446Ser) c.1219A>T (p.Thr407Ser) c.1201A>T (p.Thr401Ser) | |
| 3 | g.69965055C>A | CA2490655 | MITF | c.1322C>A (p.Thr441Asn) c.1319C>A (p.Thr440Asn) n.1544C>A c.1295C>A (p.Thr432Asn) c.*133C>A (n.*133C>A) c.1388C>A (p.Thr463Asn) c.1067C>A (p.Thr356Asn) c.1367C>A (p.Thr456Asn) c.1370C>A (p.Thr457Asn) c.1049C>A (p.Thr350Asn) c.1214C>A (p.Thr405Asn) c.*714C>A (n.*714C>A) c.881C>A (p.Thr294Asn) c.1340C>A (p.Thr447Asn) c.1232C>A (p.Thr411Asn) c.1385C>A (p.Thr462Asn) c.1337C>A (p.Thr446Asn) c.1220C>A (p.Thr407Asn) c.1202C>A (p.Thr401Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965055C= | CA1373414270 | MITF | c.1322C= (p.Thr441=) c.1319C= (p.Thr440=) n.1544C= c.1295C= (p.Thr432=) c.*133C= (n.*133C=) c.1388C= (p.Thr463=) c.1067C= (p.Thr356=) c.1367C= (p.Thr456=) c.1370C= (p.Thr457=) c.1049C= (p.Thr350=) c.1214C= (p.Thr405=) c.*714C= (n.*714C=) c.881C= (p.Thr294=) c.1340C= (p.Thr447=) c.1232C= (p.Thr411=) c.1385C= (p.Thr462=) c.1337C= (p.Thr446=) c.1220C= (p.Thr407=) c.1202C= (p.Thr401=) | |
| 3 | g.69965055C>G | CA353559742 | MITF | c.1322C>G (p.Thr441Ser) c.1319C>G (p.Thr440Ser) n.1544C>G c.1295C>G (p.Thr432Ser) c.*133C>G (n.*133C>G) c.1388C>G (p.Thr463Ser) c.1067C>G (p.Thr356Ser) c.1367C>G (p.Thr456Ser) c.1370C>G (p.Thr457Ser) c.1049C>G (p.Thr350Ser) c.1214C>G (p.Thr405Ser) c.*714C>G (n.*714C>G) c.881C>G (p.Thr294Ser) c.1340C>G (p.Thr447Ser) c.1232C>G (p.Thr411Ser) c.1385C>G (p.Thr462Ser) c.1337C>G (p.Thr446Ser) c.1220C>G (p.Thr407Ser) c.1202C>G (p.Thr401Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965055C>T | CA353559741 | MITF | c.1322C>T (p.Thr441Ile) c.1319C>T (p.Thr440Ile) n.1544C>T c.1295C>T (p.Thr432Ile) c.*133C>T (n.*133C>T) c.1388C>T (p.Thr463Ile) c.1067C>T (p.Thr356Ile) c.1367C>T (p.Thr456Ile) c.1370C>T (p.Thr457Ile) c.1049C>T (p.Thr350Ile) c.1214C>T (p.Thr405Ile) c.*714C>T (n.*714C>T) c.881C>T (p.Thr294Ile) c.1340C>T (p.Thr447Ile) c.1232C>T (p.Thr411Ile) c.1385C>T (p.Thr462Ile) c.1337C>T (p.Thr446Ile) c.1220C>T (p.Thr407Ile) c.1202C>T (p.Thr401Ile) | ClinVar gnomAD v4 COSMIC COSMIC |
| 3 | g.69965056T>A | CA434433751 | MITF | c.1323T>A (p.Thr441=) c.1320T>A (p.Thr440=) n.1545T>A c.1296T>A (p.Thr432=) c.*134T>A (n.*134T>A) c.1389T>A (p.Thr463=) c.1068T>A (p.Thr356=) c.1368T>A (p.Thr456=) c.1371T>A (p.Thr457=) c.1050T>A (p.Thr350=) c.1215T>A (p.Thr405=) c.*715T>A (n.*715T>A) c.882T>A (p.Thr294=) c.1341T>A (p.Thr447=) c.1233T>A (p.Thr411=) c.1386T>A (p.Thr462=) c.1338T>A (p.Thr446=) c.1221T>A (p.Thr407=) c.1203T>A (p.Thr401=) | |
| 3 | g.69965056T>C | CA434433752 | MITF | c.1323T>C (p.Thr441=) c.1320T>C (p.Thr440=) n.1545T>C c.1296T>C (p.Thr432=) c.*134T>C (n.*134T>C) c.1389T>C (p.Thr463=) c.1068T>C (p.Thr356=) c.1368T>C (p.Thr456=) c.1371T>C (p.Thr457=) c.1050T>C (p.Thr350=) c.1215T>C (p.Thr405=) c.*715T>C (n.*715T>C) c.882T>C (p.Thr294=) c.1341T>C (p.Thr447=) c.1233T>C (p.Thr411=) c.1386T>C (p.Thr462=) c.1338T>C (p.Thr446=) c.1221T>C (p.Thr407=) c.1203T>C (p.Thr401=) | |
| 3 | g.69965056T>G | CA434433753 | MITF | c.1323T>G (p.Thr441=) c.1320T>G (p.Thr440=) n.1545T>G c.1296T>G (p.Thr432=) c.*134T>G (n.*134T>G) c.1389T>G (p.Thr463=) c.1068T>G (p.Thr356=) c.1368T>G (p.Thr456=) c.1371T>G (p.Thr457=) c.1050T>G (p.Thr350=) c.1215T>G (p.Thr405=) c.*715T>G (n.*715T>G) c.882T>G (p.Thr294=) c.1341T>G (p.Thr447=) c.1233T>G (p.Thr411=) c.1386T>G (p.Thr462=) c.1338T>G (p.Thr446=) c.1221T>G (p.Thr407=) c.1203T>G (p.Thr401=) | |
| 3 | g.69965057G>A | CA353559743 | MITF | c.1324G>A (p.Gly442Arg) c.1321G>A (p.Gly441Arg) n.1546G>A c.1297G>A (p.Gly433Arg) c.*135G>A (n.*135G>A) c.1390G>A (p.Gly464Arg) c.1069G>A (p.Gly357Arg) c.1369G>A (p.Gly457Arg) c.1372G>A (p.Gly458Arg) c.1051G>A (p.Gly351Arg) c.1216G>A (p.Gly406Arg) c.*716G>A (n.*716G>A) c.883G>A (p.Gly295Arg) c.1342G>A (p.Gly448Arg) c.1234G>A (p.Gly412Arg) c.1387G>A (p.Gly463Arg) c.1339G>A (p.Gly447Arg) c.1222G>A (p.Gly408Arg) c.1204G>A (p.Gly402Arg) | |
| 3 | g.69965057G>C | CA353559744 | MITF | c.1324G>C (p.Gly442Arg) c.1321G>C (p.Gly441Arg) n.1546G>C c.1297G>C (p.Gly433Arg) c.*135G>C (n.*135G>C) c.1390G>C (p.Gly464Arg) c.1069G>C (p.Gly357Arg) c.1369G>C (p.Gly457Arg) c.1372G>C (p.Gly458Arg) c.1051G>C (p.Gly351Arg) c.1216G>C (p.Gly406Arg) c.*716G>C (n.*716G>C) c.883G>C (p.Gly295Arg) c.1342G>C (p.Gly448Arg) c.1234G>C (p.Gly412Arg) c.1387G>C (p.Gly463Arg) c.1339G>C (p.Gly447Arg) c.1222G>C (p.Gly408Arg) c.1204G>C (p.Gly402Arg) | |
| 3 | g.69965057G>T | CA353559745 | MITF | c.1324G>T (p.Gly442Trp) c.1321G>T (p.Gly441Trp) n.1546G>T c.1297G>T (p.Gly433Trp) c.*135G>T (n.*135G>T) c.1390G>T (p.Gly464Trp) c.1069G>T (p.Gly357Trp) c.1369G>T (p.Gly457Trp) c.1372G>T (p.Gly458Trp) c.1051G>T (p.Gly351Trp) c.1216G>T (p.Gly406Trp) c.*716G>T (n.*716G>T) c.883G>T (p.Gly295Trp) c.1342G>T (p.Gly448Trp) c.1234G>T (p.Gly412Trp) c.1387G>T (p.Gly463Trp) c.1339G>T (p.Gly447Trp) c.1222G>T (p.Gly408Trp) c.1204G>T (p.Gly402Trp) | |
| 3 | g.69965058G>A | CA353559746 | MITF | c.1325G>A (p.Gly442Glu) c.1322G>A (p.Gly441Glu) n.1547G>A c.1298G>A (p.Gly433Glu) c.*136G>A (n.*136G>A) c.1391G>A (p.Gly464Glu) c.1070G>A (p.Gly357Glu) c.1370G>A (p.Gly457Glu) c.1373G>A (p.Gly458Glu) c.1052G>A (p.Gly351Glu) c.1217G>A (p.Gly406Glu) c.*717G>A (n.*717G>A) c.884G>A (p.Gly295Glu) c.1343G>A (p.Gly448Glu) c.1235G>A (p.Gly412Glu) c.1388G>A (p.Gly463Glu) c.1340G>A (p.Gly447Glu) c.1223G>A (p.Gly408Glu) c.1205G>A (p.Gly402Glu) | |
| 3 | g.69965058G>C | CA353559747 | MITF | c.1325G>C (p.Gly442Ala) c.1322G>C (p.Gly441Ala) n.1547G>C c.1298G>C (p.Gly433Ala) c.*136G>C (n.*136G>C) c.1391G>C (p.Gly464Ala) c.1070G>C (p.Gly357Ala) c.1370G>C (p.Gly457Ala) c.1373G>C (p.Gly458Ala) c.1052G>C (p.Gly351Ala) c.1217G>C (p.Gly406Ala) c.*717G>C (n.*717G>C) c.884G>C (p.Gly295Ala) c.1343G>C (p.Gly448Ala) c.1235G>C (p.Gly412Ala) c.1388G>C (p.Gly463Ala) c.1340G>C (p.Gly447Ala) c.1223G>C (p.Gly408Ala) c.1205G>C (p.Gly402Ala) | |
| 3 | g.69965058G= | CA1373414272 | MITF | c.1325G= (p.Gly442=) c.1322G= (p.Gly441=) n.1547G= c.1298G= (p.Gly433=) c.*136G= (n.*136G=) c.1391G= (p.Gly464=) c.1070G= (p.Gly357=) c.1370G= (p.Gly457=) c.1373G= (p.Gly458=) c.1052G= (p.Gly351=) c.1217G= (p.Gly406=) c.*717G= (n.*717G=) c.884G= (p.Gly295=) c.1343G= (p.Gly448=) c.1235G= (p.Gly412=) c.1388G= (p.Gly463=) c.1340G= (p.Gly447=) c.1223G= (p.Gly408=) c.1205G= (p.Gly402=) | |
| 3 | g.69965058G>T | CA353559748 | MITF | c.1325G>T (p.Gly442Val) c.1322G>T (p.Gly441Val) n.1547G>T c.1298G>T (p.Gly433Val) c.*136G>T (n.*136G>T) c.1391G>T (p.Gly464Val) c.1070G>T (p.Gly357Val) c.1370G>T (p.Gly457Val) c.1373G>T (p.Gly458Val) c.1052G>T (p.Gly351Val) c.1217G>T (p.Gly406Val) c.*717G>T (n.*717G>T) c.884G>T (p.Gly295Val) c.1343G>T (p.Gly448Val) c.1235G>T (p.Gly412Val) c.1388G>T (p.Gly463Val) c.1340G>T (p.Gly447Val) c.1223G>T (p.Gly408Val) c.1205G>T (p.Gly402Val) | ClinVar dbSNP gnomAD v2 |
| 3 | g.69965059G>A | CA434433756 | MITF | c.1326G>A (p.Gly442=) c.1323G>A (p.Gly441=) n.1548G>A c.1299G>A (p.Gly433=) c.*137G>A (n.*137G>A) c.1392G>A (p.Gly464=) c.1071G>A (p.Gly357=) c.1371G>A (p.Gly457=) c.1374G>A (p.Gly458=) c.1053G>A (p.Gly351=) c.1218G>A (p.Gly406=) c.*718G>A (n.*718G>A) c.885G>A (p.Gly295=) c.1344G>A (p.Gly448=) c.1236G>A (p.Gly412=) c.1389G>A (p.Gly463=) c.1341G>A (p.Gly447=) c.1224G>A (p.Gly408=) c.1206G>A (p.Gly402=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69965059G>C | CA434433757 | MITF | c.1326G>C (p.Gly442=) c.1323G>C (p.Gly441=) n.1548G>C c.1299G>C (p.Gly433=) c.*137G>C (n.*137G>C) c.1392G>C (p.Gly464=) c.1071G>C (p.Gly357=) c.1371G>C (p.Gly457=) c.1374G>C (p.Gly458=) c.1053G>C (p.Gly351=) c.1218G>C (p.Gly406=) c.*718G>C (n.*718G>C) c.885G>C (p.Gly295=) c.1344G>C (p.Gly448=) c.1236G>C (p.Gly412=) c.1389G>C (p.Gly463=) c.1341G>C (p.Gly447=) c.1224G>C (p.Gly408=) c.1206G>C (p.Gly402=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965059G= | CA1373414276 | MITF | c.1326G= (p.Gly442=) c.1323G= (p.Gly441=) n.1548G= c.1299G= (p.Gly433=) c.*137G= (n.*137G=) c.1392G= (p.Gly464=) c.1071G= (p.Gly357=) c.1371G= (p.Gly457=) c.1374G= (p.Gly458=) c.1053G= (p.Gly351=) c.1218G= (p.Gly406=) c.*718G= (n.*718G=) c.885G= (p.Gly295=) c.1344G= (p.Gly448=) c.1236G= (p.Gly412=) c.1389G= (p.Gly463=) c.1341G= (p.Gly447=) c.1224G= (p.Gly408=) c.1206G= (p.Gly402=) | |
| 3 | g.69965059G>T | CA2490656 | MITF | c.1326G>T (p.Gly442=) c.1323G>T (p.Gly441=) n.1548G>T c.1299G>T (p.Gly433=) c.*137G>T (n.*137G>T) c.1392G>T (p.Gly464=) c.1071G>T (p.Gly357=) c.1371G>T (p.Gly457=) c.1374G>T (p.Gly458=) c.1053G>T (p.Gly351=) c.1218G>T (p.Gly406=) c.*718G>T (n.*718G>T) c.885G>T (p.Gly295=) c.1344G>T (p.Gly448=) c.1236G>T (p.Gly412=) c.1389G>T (p.Gly463=) c.1341G>T (p.Gly447=) c.1224G>T (p.Gly408=) c.1206G>T (p.Gly402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965060A>C | CA353559749 | MITF | c.1327A>C (p.Thr443Pro) c.1324A>C (p.Thr442Pro) n.1549A>C c.1300A>C (p.Thr434Pro) c.*138A>C (n.*138A>C) c.1393A>C (p.Thr465Pro) c.1072A>C (p.Thr358Pro) c.1372A>C (p.Thr458Pro) c.1375A>C (p.Thr459Pro) c.1054A>C (p.Thr352Pro) c.1219A>C (p.Thr407Pro) c.*719A>C (n.*719A>C) c.886A>C (p.Thr296Pro) c.1345A>C (p.Thr449Pro) c.1237A>C (p.Thr413Pro) c.1390A>C (p.Thr464Pro) c.1342A>C (p.Thr448Pro) c.1225A>C (p.Thr409Pro) c.1207A>C (p.Thr403Pro) | |
| 3 | g.69965060A>G | CA353559750 | MITF | c.1327A>G (p.Thr443Ala) c.1324A>G (p.Thr442Ala) n.1549A>G c.1300A>G (p.Thr434Ala) c.*138A>G (n.*138A>G) c.1393A>G (p.Thr465Ala) c.1072A>G (p.Thr358Ala) c.1372A>G (p.Thr458Ala) c.1375A>G (p.Thr459Ala) c.1054A>G (p.Thr352Ala) c.1219A>G (p.Thr407Ala) c.*719A>G (n.*719A>G) c.886A>G (p.Thr296Ala) c.1345A>G (p.Thr449Ala) c.1237A>G (p.Thr413Ala) c.1390A>G (p.Thr464Ala) c.1342A>G (p.Thr448Ala) c.1225A>G (p.Thr409Ala) c.1207A>G (p.Thr403Ala) | |
| 3 | g.69965060A>T | CA353559751 | MITF | c.1327A>T (p.Thr443Ser) c.1324A>T (p.Thr442Ser) n.1549A>T c.1300A>T (p.Thr434Ser) c.*138A>T (n.*138A>T) c.1393A>T (p.Thr465Ser) c.1072A>T (p.Thr358Ser) c.1372A>T (p.Thr458Ser) c.1375A>T (p.Thr459Ser) c.1054A>T (p.Thr352Ser) c.1219A>T (p.Thr407Ser) c.*719A>T (n.*719A>T) c.886A>T (p.Thr296Ser) c.1345A>T (p.Thr449Ser) c.1237A>T (p.Thr413Ser) c.1390A>T (p.Thr464Ser) c.1342A>T (p.Thr448Ser) c.1225A>T (p.Thr409Ser) c.1207A>T (p.Thr403Ser) | ClinVar |
| 3 | g.69965061C>A | CA353559752 | MITF | c.1328C>A (p.Thr443Asn) c.1325C>A (p.Thr442Asn) n.1550C>A c.1301C>A (p.Thr434Asn) c.*139C>A (n.*139C>A) c.1394C>A (p.Thr465Asn) c.1073C>A (p.Thr358Asn) c.1373C>A (p.Thr458Asn) c.1376C>A (p.Thr459Asn) c.1055C>A (p.Thr352Asn) c.1220C>A (p.Thr407Asn) c.*720C>A (n.*720C>A) c.887C>A (p.Thr296Asn) c.1346C>A (p.Thr449Asn) c.1238C>A (p.Thr413Asn) c.1391C>A (p.Thr464Asn) c.1343C>A (p.Thr448Asn) c.1226C>A (p.Thr409Asn) c.1208C>A (p.Thr403Asn) | |
| 3 | g.69965061C>G | CA353559753 | MITF | c.1328C>G (p.Thr443Ser) c.1325C>G (p.Thr442Ser) n.1550C>G c.1301C>G (p.Thr434Ser) c.*139C>G (n.*139C>G) c.1394C>G (p.Thr465Ser) c.1073C>G (p.Thr358Ser) c.1373C>G (p.Thr458Ser) c.1376C>G (p.Thr459Ser) c.1055C>G (p.Thr352Ser) c.1220C>G (p.Thr407Ser) c.*720C>G (n.*720C>G) c.887C>G (p.Thr296Ser) c.1346C>G (p.Thr449Ser) c.1238C>G (p.Thr413Ser) c.1391C>G (p.Thr464Ser) c.1343C>G (p.Thr448Ser) c.1226C>G (p.Thr409Ser) c.1208C>G (p.Thr403Ser) | |
| 3 | g.69965061C>T | CA353559754 | MITF | c.1328C>T (p.Thr443Ile) c.1325C>T (p.Thr442Ile) n.1550C>T c.1301C>T (p.Thr434Ile) c.*139C>T (n.*139C>T) c.1394C>T (p.Thr465Ile) c.1073C>T (p.Thr358Ile) c.1373C>T (p.Thr458Ile) c.1376C>T (p.Thr459Ile) c.1055C>T (p.Thr352Ile) c.1220C>T (p.Thr407Ile) c.*720C>T (n.*720C>T) c.887C>T (p.Thr296Ile) c.1346C>T (p.Thr449Ile) c.1238C>T (p.Thr413Ile) c.1391C>T (p.Thr464Ile) c.1343C>T (p.Thr448Ile) c.1226C>T (p.Thr409Ile) c.1208C>T (p.Thr403Ile) | dbSNP |
| 3 | g.69965062T>A | CA434433758 | MITF | c.1329T>A (p.Thr443=) c.1326T>A (p.Thr442=) n.1551T>A c.1302T>A (p.Thr434=) c.*140T>A (n.*140T>A) c.1395T>A (p.Thr465=) c.1074T>A (p.Thr358=) c.1374T>A (p.Thr458=) c.1377T>A (p.Thr459=) c.1056T>A (p.Thr352=) c.1221T>A (p.Thr407=) c.*721T>A (n.*721T>A) c.888T>A (p.Thr296=) c.1347T>A (p.Thr449=) c.1239T>A (p.Thr413=) c.1392T>A (p.Thr464=) c.1344T>A (p.Thr448=) c.1227T>A (p.Thr409=) c.1209T>A (p.Thr403=) | |
| 3 | g.69965062T>C | CA434433759 | MITF | c.1329T>C (p.Thr443=) c.1326T>C (p.Thr442=) n.1551T>C c.1302T>C (p.Thr434=) c.*140T>C (n.*140T>C) c.1395T>C (p.Thr465=) c.1074T>C (p.Thr358=) c.1374T>C (p.Thr458=) c.1377T>C (p.Thr459=) c.1056T>C (p.Thr352=) c.1221T>C (p.Thr407=) c.*721T>C (n.*721T>C) c.888T>C (p.Thr296=) c.1347T>C (p.Thr449=) c.1239T>C (p.Thr413=) c.1392T>C (p.Thr464=) c.1344T>C (p.Thr448=) c.1227T>C (p.Thr409=) c.1209T>C (p.Thr403=) | |
| 3 | g.69965062T>G | CA434433761 | MITF | c.1329T>G (p.Thr443=) c.1326T>G (p.Thr442=) n.1551T>G c.1302T>G (p.Thr434=) c.*140T>G (n.*140T>G) c.1395T>G (p.Thr465=) c.1074T>G (p.Thr358=) c.1374T>G (p.Thr458=) c.1377T>G (p.Thr459=) c.1056T>G (p.Thr352=) c.1221T>G (p.Thr407=) c.*721T>G (n.*721T>G) c.888T>G (p.Thr296=) c.1347T>G (p.Thr449=) c.1239T>G (p.Thr413=) c.1392T>G (p.Thr464=) c.1344T>G (p.Thr448=) c.1227T>G (p.Thr409=) c.1209T>G (p.Thr403=) | |
| 3 | g.69965062dup | CA2577819707 | MITF | c.1329dup (p.Glu444Ter) c.1326dup (p.Glu443Ter) n.1551dup c.1302dup (p.Glu435Ter) c.*140dup (n.*140dup) c.1395dup (p.Glu466Ter) c.1074dup (p.Glu359Ter) c.1374dup (p.Glu459Ter) c.1377dup (p.Glu460Ter) c.1056dup (p.Glu353Ter) c.1221dup (p.Glu408Ter) c.*721dup (n.*721dup) c.888dup (p.Glu297Ter) c.1347dup (p.Glu450Ter) c.1239dup (p.Glu414Ter) c.1392dup (p.Glu465Ter) c.1344dup (p.Glu449Ter) c.1227dup (p.Glu410Ter) c.1209dup (p.Glu404Ter) | gnomAD v4 |
| 3 | g.69965063G>A | CA2490657 | MITF | c.1330G>A (p.Glu444Lys) c.1327G>A (p.Glu443Lys) n.1552G>A c.1303G>A (p.Glu435Lys) c.*141G>A (n.*141G>A) c.1396G>A (p.Glu466Lys) c.1075G>A (p.Glu359Lys) c.1375G>A (p.Glu459Lys) c.1378G>A (p.Glu460Lys) c.1057G>A (p.Glu353Lys) c.1222G>A (p.Glu408Lys) c.*722G>A (n.*722G>A) c.889G>A (p.Glu297Lys) c.1348G>A (p.Glu450Lys) c.1240G>A (p.Glu414Lys) c.1393G>A (p.Glu465Lys) c.1345G>A (p.Glu449Lys) c.1228G>A (p.Glu410Lys) c.1210G>A (p.Glu404Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965063G>C | CA2490658 | MITF | c.1330G>C (p.Glu444Gln) c.1327G>C (p.Glu443Gln) n.1552G>C c.1303G>C (p.Glu435Gln) c.*141G>C (n.*141G>C) c.1396G>C (p.Glu466Gln) c.1075G>C (p.Glu359Gln) c.1375G>C (p.Glu459Gln) c.1378G>C (p.Glu460Gln) c.1057G>C (p.Glu353Gln) c.1222G>C (p.Glu408Gln) c.*722G>C (n.*722G>C) c.889G>C (p.Glu297Gln) c.1348G>C (p.Glu450Gln) c.1240G>C (p.Glu414Gln) c.1393G>C (p.Glu465Gln) c.1345G>C (p.Glu449Gln) c.1228G>C (p.Glu410Gln) c.1210G>C (p.Glu404Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965063G= | CA1373414282 | MITF | c.1330G= (p.Glu444=) c.1327G= (p.Glu443=) n.1552G= c.1303G= (p.Glu435=) c.*141G= (n.*141G=) c.1396G= (p.Glu466=) c.1075G= (p.Glu359=) c.1375G= (p.Glu459=) c.1378G= (p.Glu460=) c.1057G= (p.Glu353=) c.1222G= (p.Glu408=) c.*722G= (n.*722G=) c.889G= (p.Glu297=) c.1348G= (p.Glu450=) c.1240G= (p.Glu414=) c.1393G= (p.Glu465=) c.1345G= (p.Glu449=) c.1228G= (p.Glu410=) c.1210G= (p.Glu404=) | |
| 3 | g.69965063G>T | CA353559755 | MITF | c.1330G>T (p.Glu444Ter) c.1327G>T (p.Glu443Ter) n.1552G>T c.1303G>T (p.Glu435Ter) c.*141G>T (n.*141G>T) c.1396G>T (p.Glu466Ter) c.1075G>T (p.Glu359Ter) c.1375G>T (p.Glu459Ter) c.1378G>T (p.Glu460Ter) c.1057G>T (p.Glu353Ter) c.1222G>T (p.Glu408Ter) c.*722G>T (n.*722G>T) c.889G>T (p.Glu297Ter) c.1348G>T (p.Glu450Ter) c.1240G>T (p.Glu414Ter) c.1393G>T (p.Glu465Ter) c.1345G>T (p.Glu449Ter) c.1228G>T (p.Glu410Ter) c.1210G>T (p.Glu404Ter) | |
| 3 | g.69965064A>C | CA353559756 | MITF | c.1331A>C (p.Glu444Ala) c.1328A>C (p.Glu443Ala) n.1553A>C c.1304A>C (p.Glu435Ala) c.*142A>C (n.*142A>C) c.1397A>C (p.Glu466Ala) c.1076A>C (p.Glu359Ala) c.1376A>C (p.Glu459Ala) c.1379A>C (p.Glu460Ala) c.1058A>C (p.Glu353Ala) c.1223A>C (p.Glu408Ala) c.*723A>C (n.*723A>C) c.890A>C (p.Glu297Ala) c.1349A>C (p.Glu450Ala) c.1241A>C (p.Glu414Ala) c.1394A>C (p.Glu465Ala) c.1346A>C (p.Glu449Ala) c.1229A>C (p.Glu410Ala) c.1211A>C (p.Glu404Ala) | |
| 3 | g.69965064A>G | CA353559757 | MITF | c.1331A>G (p.Glu444Gly) c.1328A>G (p.Glu443Gly) n.1553A>G c.1304A>G (p.Glu435Gly) c.*142A>G (n.*142A>G) c.1397A>G (p.Glu466Gly) c.1076A>G (p.Glu359Gly) c.1376A>G (p.Glu459Gly) c.1379A>G (p.Glu460Gly) c.1058A>G (p.Glu353Gly) c.1223A>G (p.Glu408Gly) c.*723A>G (n.*723A>G) c.890A>G (p.Glu297Gly) c.1349A>G (p.Glu450Gly) c.1241A>G (p.Glu414Gly) c.1394A>G (p.Glu465Gly) c.1346A>G (p.Glu449Gly) c.1229A>G (p.Glu410Gly) c.1211A>G (p.Glu404Gly) | gnomAD v4 |
| 3 | g.69965064A>T | CA353559758 | MITF | c.1331A>T (p.Glu444Val) c.1328A>T (p.Glu443Val) n.1553A>T c.1304A>T (p.Glu435Val) c.*142A>T (n.*142A>T) c.1397A>T (p.Glu466Val) c.1076A>T (p.Glu359Val) c.1376A>T (p.Glu459Val) c.1379A>T (p.Glu460Val) c.1058A>T (p.Glu353Val) c.1223A>T (p.Glu408Val) c.*723A>T (n.*723A>T) c.890A>T (p.Glu297Val) c.1349A>T (p.Glu450Val) c.1241A>T (p.Glu414Val) c.1394A>T (p.Glu465Val) c.1346A>T (p.Glu449Val) c.1229A>T (p.Glu410Val) c.1211A>T (p.Glu404Val) | |
| 3 | g.69965065G>A | CA434433764 | MITF | c.1332G>A (p.Glu444=) c.1329G>A (p.Glu443=) n.1554G>A c.1305G>A (p.Glu435=) c.*143G>A (n.*143G>A) c.1398G>A (p.Glu466=) c.1077G>A (p.Glu359=) c.1377G>A (p.Glu459=) c.1380G>A (p.Glu460=) c.1059G>A (p.Glu353=) c.1224G>A (p.Glu408=) c.*724G>A (n.*724G>A) c.891G>A (p.Glu297=) c.1350G>A (p.Glu450=) c.1242G>A (p.Glu414=) c.1395G>A (p.Glu465=) c.1347G>A (p.Glu449=) c.1230G>A (p.Glu410=) c.1212G>A (p.Glu404=) | ClinVar dbSNP |
| 3 | g.69965065G>C | CA353559759 | MITF | c.1332G>C (p.Glu444Asp) c.1329G>C (p.Glu443Asp) n.1554G>C c.1305G>C (p.Glu435Asp) c.*143G>C (n.*143G>C) c.1398G>C (p.Glu466Asp) c.1077G>C (p.Glu359Asp) c.1377G>C (p.Glu459Asp) c.1380G>C (p.Glu460Asp) c.1059G>C (p.Glu353Asp) c.1224G>C (p.Glu408Asp) c.*724G>C (n.*724G>C) c.891G>C (p.Glu297Asp) c.1350G>C (p.Glu450Asp) c.1242G>C (p.Glu414Asp) c.1395G>C (p.Glu465Asp) c.1347G>C (p.Glu449Asp) c.1230G>C (p.Glu410Asp) c.1212G>C (p.Glu404Asp) | dbSNP |
| 3 | g.69965065G= | CA1373414288 | MITF | c.1332G= (p.Glu444=) c.1329G= (p.Glu443=) n.1554G= c.1305G= (p.Glu435=) c.*143G= (n.*143G=) c.1398G= (p.Glu466=) c.1077G= (p.Glu359=) c.1377G= (p.Glu459=) c.1380G= (p.Glu460=) c.1059G= (p.Glu353=) c.1224G= (p.Glu408=) c.*724G= (n.*724G=) c.891G= (p.Glu297=) c.1350G= (p.Glu450=) c.1242G= (p.Glu414=) c.1395G= (p.Glu465=) c.1347G= (p.Glu449=) c.1230G= (p.Glu410=) c.1212G= (p.Glu404=) | |
| 3 | g.69965065G>T | CA353559760 | MITF | c.1332G>T (p.Glu444Asp) c.1329G>T (p.Glu443Asp) n.1554G>T c.1305G>T (p.Glu435Asp) c.*143G>T (n.*143G>T) c.1398G>T (p.Glu466Asp) c.1077G>T (p.Glu359Asp) c.1377G>T (p.Glu459Asp) c.1380G>T (p.Glu460Asp) c.1059G>T (p.Glu353Asp) c.1224G>T (p.Glu408Asp) c.*724G>T (n.*724G>T) c.891G>T (p.Glu297Asp) c.1350G>T (p.Glu450Asp) c.1242G>T (p.Glu414Asp) c.1395G>T (p.Glu465Asp) c.1347G>T (p.Glu449Asp) c.1230G>T (p.Glu410Asp) c.1212G>T (p.Glu404Asp) | |
| 3 | g.69965066G>A | CA353559761 | MITF | c.1333G>A (p.Ala445Thr) c.1330G>A (p.Ala444Thr) n.1555G>A c.1306G>A (p.Ala436Thr) c.*144G>A (n.*144G>A) c.1399G>A (p.Ala467Thr) c.1078G>A (p.Ala360Thr) c.1378G>A (p.Ala460Thr) c.1381G>A (p.Ala461Thr) c.1060G>A (p.Ala354Thr) c.1225G>A (p.Ala409Thr) c.*725G>A (n.*725G>A) c.892G>A (p.Ala298Thr) c.1351G>A (p.Ala451Thr) c.1243G>A (p.Ala415Thr) c.1396G>A (p.Ala466Thr) c.1348G>A (p.Ala450Thr) c.1231G>A (p.Ala411Thr) c.1213G>A (p.Ala405Thr) | |
| 3 | g.69965066G>C | CA353559762 | MITF | c.1333G>C (p.Ala445Pro) c.1330G>C (p.Ala444Pro) n.1555G>C c.1306G>C (p.Ala436Pro) c.*144G>C (n.*144G>C) c.1399G>C (p.Ala467Pro) c.1078G>C (p.Ala360Pro) c.1378G>C (p.Ala460Pro) c.1381G>C (p.Ala461Pro) c.1060G>C (p.Ala354Pro) c.1225G>C (p.Ala409Pro) c.*725G>C (n.*725G>C) c.892G>C (p.Ala298Pro) c.1351G>C (p.Ala451Pro) c.1243G>C (p.Ala415Pro) c.1396G>C (p.Ala466Pro) c.1348G>C (p.Ala450Pro) c.1231G>C (p.Ala411Pro) c.1213G>C (p.Ala405Pro) | |
| 3 | g.69965066G>T | CA353559763 | MITF | c.1333G>T (p.Ala445Ser) c.1330G>T (p.Ala444Ser) n.1555G>T c.1306G>T (p.Ala436Ser) c.*144G>T (n.*144G>T) c.1399G>T (p.Ala467Ser) c.1078G>T (p.Ala360Ser) c.1378G>T (p.Ala460Ser) c.1381G>T (p.Ala461Ser) c.1060G>T (p.Ala354Ser) c.1225G>T (p.Ala409Ser) c.*725G>T (n.*725G>T) c.892G>T (p.Ala298Ser) c.1351G>T (p.Ala451Ser) c.1243G>T (p.Ala415Ser) c.1396G>T (p.Ala466Ser) c.1348G>T (p.Ala450Ser) c.1231G>T (p.Ala411Ser) c.1213G>T (p.Ala405Ser) | |
| 3 | g.69965067C>A | CA2490659 | MITF | c.1334C>A (p.Ala445Asp) c.1331C>A (p.Ala444Asp) n.1556C>A c.1307C>A (p.Ala436Asp) c.*145C>A (n.*145C>A) c.1400C>A (p.Ala467Asp) c.1079C>A (p.Ala360Asp) c.1379C>A (p.Ala460Asp) c.1382C>A (p.Ala461Asp) c.1061C>A (p.Ala354Asp) c.1226C>A (p.Ala409Asp) c.*726C>A (n.*726C>A) c.893C>A (p.Ala298Asp) c.1352C>A (p.Ala451Asp) c.1244C>A (p.Ala415Asp) c.1397C>A (p.Ala466Asp) c.1349C>A (p.Ala450Asp) c.1232C>A (p.Ala411Asp) c.1214C>A (p.Ala405Asp) | dbSNP ExAC gnomAD v2 |
| 3 | g.69965067C= | CA1373414292 | MITF | c.1334C= (p.Ala445=) c.1331C= (p.Ala444=) n.1556C= c.1307C= (p.Ala436=) c.*145C= (n.*145C=) c.1400C= (p.Ala467=) c.1079C= (p.Ala360=) c.1379C= (p.Ala460=) c.1382C= (p.Ala461=) c.1061C= (p.Ala354=) c.1226C= (p.Ala409=) c.*726C= (n.*726C=) c.893C= (p.Ala298=) c.1352C= (p.Ala451=) c.1244C= (p.Ala415=) c.1397C= (p.Ala466=) c.1349C= (p.Ala450=) c.1232C= (p.Ala411=) c.1214C= (p.Ala405=) | |
| 3 | g.69965067C>G | CA353559764 | MITF | c.1334C>G (p.Ala445Gly) c.1331C>G (p.Ala444Gly) n.1556C>G c.1307C>G (p.Ala436Gly) c.*145C>G (n.*145C>G) c.1400C>G (p.Ala467Gly) c.1079C>G (p.Ala360Gly) c.1379C>G (p.Ala460Gly) c.1382C>G (p.Ala461Gly) c.1061C>G (p.Ala354Gly) c.1226C>G (p.Ala409Gly) c.*726C>G (n.*726C>G) c.893C>G (p.Ala298Gly) c.1352C>G (p.Ala451Gly) c.1244C>G (p.Ala415Gly) c.1397C>G (p.Ala466Gly) c.1349C>G (p.Ala450Gly) c.1232C>G (p.Ala411Gly) c.1214C>G (p.Ala405Gly) | |
| 3 | g.69965067C>T | CA353559765 | MITF | c.1334C>T (p.Ala445Val) c.1331C>T (p.Ala444Val) n.1556C>T c.1307C>T (p.Ala436Val) c.*145C>T (n.*145C>T) c.1400C>T (p.Ala467Val) c.1079C>T (p.Ala360Val) c.1379C>T (p.Ala460Val) c.1382C>T (p.Ala461Val) c.1061C>T (p.Ala354Val) c.1226C>T (p.Ala409Val) c.*726C>T (n.*726C>T) c.893C>T (p.Ala298Val) c.1352C>T (p.Ala451Val) c.1244C>T (p.Ala415Val) c.1397C>T (p.Ala466Val) c.1349C>T (p.Ala450Val) c.1232C>T (p.Ala411Val) c.1214C>T (p.Ala405Val) | |
| 3 | g.69965068C>A | CA434433769 | MITF | c.1335C>A (p.Ala445=) c.1332C>A (p.Ala444=) n.1557C>A c.1308C>A (p.Ala436=) c.*146C>A (n.*146C>A) c.1401C>A (p.Ala467=) c.1080C>A (p.Ala360=) c.1380C>A (p.Ala460=) c.1383C>A (p.Ala461=) c.1062C>A (p.Ala354=) c.1227C>A (p.Ala409=) c.*727C>A (n.*727C>A) c.894C>A (p.Ala298=) c.1353C>A (p.Ala451=) c.1245C>A (p.Ala415=) c.1398C>A (p.Ala466=) c.1350C>A (p.Ala450=) c.1233C>A (p.Ala411=) c.1215C>A (p.Ala405=) | |
| 3 | g.69965068C>G | CA434433770 | MITF | c.1335C>G (p.Ala445=) c.1332C>G (p.Ala444=) n.1557C>G c.1308C>G (p.Ala436=) c.*146C>G (n.*146C>G) c.1401C>G (p.Ala467=) c.1080C>G (p.Ala360=) c.1380C>G (p.Ala460=) c.1383C>G (p.Ala461=) c.1062C>G (p.Ala354=) c.1227C>G (p.Ala409=) c.*727C>G (n.*727C>G) c.894C>G (p.Ala298=) c.1353C>G (p.Ala451=) c.1245C>G (p.Ala415=) c.1398C>G (p.Ala466=) c.1350C>G (p.Ala450=) c.1233C>G (p.Ala411=) c.1215C>G (p.Ala405=) | |
| 3 | g.69965068C>T | CA434433771 | MITF | c.1335C>T (p.Ala445=) c.1332C>T (p.Ala444=) n.1557C>T c.1308C>T (p.Ala436=) c.*146C>T (n.*146C>T) c.1401C>T (p.Ala467=) c.1080C>T (p.Ala360=) c.1380C>T (p.Ala460=) c.1383C>T (p.Ala461=) c.1062C>T (p.Ala354=) c.1227C>T (p.Ala409=) c.*727C>T (n.*727C>T) c.894C>T (p.Ala298=) c.1353C>T (p.Ala451=) c.1245C>T (p.Ala415=) c.1398C>T (p.Ala466=) c.1350C>T (p.Ala450=) c.1233C>T (p.Ala411=) c.1215C>T (p.Ala405=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69965069A>C | CA353559766 | MITF | c.1336A>C (p.Asn446His) c.1333A>C (p.Asn445His) n.1558A>C c.1309A>C (p.Asn437His) c.*147A>C (n.*147A>C) c.1402A>C (p.Asn468His) c.1081A>C (p.Asn361His) c.1381A>C (p.Asn461His) c.1384A>C (p.Asn462His) c.1063A>C (p.Asn355His) c.1228A>C (p.Asn410His) c.*728A>C (n.*728A>C) c.895A>C (p.Asn299His) c.1354A>C (p.Asn452His) c.1246A>C (p.Asn416His) c.1399A>C (p.Asn467His) c.1351A>C (p.Asn451His) c.1234A>C (p.Asn412His) c.1216A>C (p.Asn406His) | |
| 3 | g.69965069A>G | CA353559767 | MITF | c.1336A>G (p.Asn446Asp) c.1333A>G (p.Asn445Asp) n.1558A>G c.1309A>G (p.Asn437Asp) c.*147A>G (n.*147A>G) c.1402A>G (p.Asn468Asp) c.1081A>G (p.Asn361Asp) c.1381A>G (p.Asn461Asp) c.1384A>G (p.Asn462Asp) c.1063A>G (p.Asn355Asp) c.1228A>G (p.Asn410Asp) c.*728A>G (n.*728A>G) c.895A>G (p.Asn299Asp) c.1354A>G (p.Asn452Asp) c.1246A>G (p.Asn416Asp) c.1399A>G (p.Asn467Asp) c.1351A>G (p.Asn451Asp) c.1234A>G (p.Asn412Asp) c.1216A>G (p.Asn406Asp) | |
| 3 | g.69965069A>T | CA353559768 | MITF | c.1336A>T (p.Asn446Tyr) c.1333A>T (p.Asn445Tyr) n.1558A>T c.1309A>T (p.Asn437Tyr) c.*147A>T (n.*147A>T) c.1402A>T (p.Asn468Tyr) c.1081A>T (p.Asn361Tyr) c.1381A>T (p.Asn461Tyr) c.1384A>T (p.Asn462Tyr) c.1063A>T (p.Asn355Tyr) c.1228A>T (p.Asn410Tyr) c.*728A>T (n.*728A>T) c.895A>T (p.Asn299Tyr) c.1354A>T (p.Asn452Tyr) c.1246A>T (p.Asn416Tyr) c.1399A>T (p.Asn467Tyr) c.1351A>T (p.Asn451Tyr) c.1234A>T (p.Asn412Tyr) c.1216A>T (p.Asn406Tyr) | |
| 3 | g.69965070A= | CA1373414295 | MITF | c.1337A= (p.Asn446=) c.1334A= (p.Asn445=) n.1559A= c.1310A= (p.Asn437=) c.*148A= (n.*148A=) c.1403A= (p.Asn468=) c.1082A= (p.Asn361=) c.1382A= (p.Asn461=) c.1385A= (p.Asn462=) c.1064A= (p.Asn355=) c.1229A= (p.Asn410=) c.*729A= (n.*729A=) c.896A= (p.Asn299=) c.1355A= (p.Asn452=) c.1247A= (p.Asn416=) c.1400A= (p.Asn467=) c.1352A= (p.Asn451=) c.1235A= (p.Asn412=) c.1217A= (p.Asn406=) | |
| 3 | g.69965070A>C | CA353559770 | MITF | c.1337A>C (p.Asn446Thr) c.1334A>C (p.Asn445Thr) n.1559A>C c.1310A>C (p.Asn437Thr) c.*148A>C (n.*148A>C) c.1403A>C (p.Asn468Thr) c.1082A>C (p.Asn361Thr) c.1382A>C (p.Asn461Thr) c.1385A>C (p.Asn462Thr) c.1064A>C (p.Asn355Thr) c.1229A>C (p.Asn410Thr) c.*729A>C (n.*729A>C) c.896A>C (p.Asn299Thr) c.1355A>C (p.Asn452Thr) c.1247A>C (p.Asn416Thr) c.1400A>C (p.Asn467Thr) c.1352A>C (p.Asn451Thr) c.1235A>C (p.Asn412Thr) c.1217A>C (p.Asn406Thr) | |
| 3 | g.69965070A>G | CA353559771 | MITF | c.1337A>G (p.Asn446Ser) c.1334A>G (p.Asn445Ser) n.1559A>G c.1310A>G (p.Asn437Ser) c.*148A>G (n.*148A>G) c.1403A>G (p.Asn468Ser) c.1082A>G (p.Asn361Ser) c.1382A>G (p.Asn461Ser) c.1385A>G (p.Asn462Ser) c.1064A>G (p.Asn355Ser) c.1229A>G (p.Asn410Ser) c.*729A>G (n.*729A>G) c.896A>G (p.Asn299Ser) c.1355A>G (p.Asn452Ser) c.1247A>G (p.Asn416Ser) c.1400A>G (p.Asn467Ser) c.1352A>G (p.Asn451Ser) c.1235A>G (p.Asn412Ser) c.1217A>G (p.Asn406Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965070A>T | CA353559769 | MITF | c.1337A>T (p.Asn446Ile) c.1334A>T (p.Asn445Ile) n.1559A>T c.1310A>T (p.Asn437Ile) c.*148A>T (n.*148A>T) c.1403A>T (p.Asn468Ile) c.1082A>T (p.Asn361Ile) c.1382A>T (p.Asn461Ile) c.1385A>T (p.Asn462Ile) c.1064A>T (p.Asn355Ile) c.1229A>T (p.Asn410Ile) c.*729A>T (n.*729A>T) c.896A>T (p.Asn299Ile) c.1355A>T (p.Asn452Ile) c.1247A>T (p.Asn416Ile) c.1400A>T (p.Asn467Ile) c.1352A>T (p.Asn451Ile) c.1235A>T (p.Asn412Ile) c.1217A>T (p.Asn406Ile) | |
| 3 | g.69965071C>A | CA353559772 | MITF | c.1338C>A (p.Asn446Lys) c.1335C>A (p.Asn445Lys) n.1560C>A c.1311C>A (p.Asn437Lys) c.*149C>A (n.*149C>A) c.1404C>A (p.Asn468Lys) c.1083C>A (p.Asn361Lys) c.1383C>A (p.Asn461Lys) c.1386C>A (p.Asn462Lys) c.1065C>A (p.Asn355Lys) c.1230C>A (p.Asn410Lys) c.*730C>A (n.*730C>A) c.897C>A (p.Asn299Lys) c.1356C>A (p.Asn452Lys) c.1248C>A (p.Asn416Lys) c.1401C>A (p.Asn467Lys) c.1353C>A (p.Asn451Lys) c.1236C>A (p.Asn412Lys) c.1218C>A (p.Asn406Lys) | |
| 3 | g.69965071C= | CA1373414299 | MITF | c.1338C= (p.Asn446=) c.1335C= (p.Asn445=) n.1560C= c.1311C= (p.Asn437=) c.*149C= (n.*149C=) c.1404C= (p.Asn468=) c.1083C= (p.Asn361=) c.1383C= (p.Asn461=) c.1386C= (p.Asn462=) c.1065C= (p.Asn355=) c.1230C= (p.Asn410=) c.*730C= (n.*730C=) c.897C= (p.Asn299=) c.1356C= (p.Asn452=) c.1248C= (p.Asn416=) c.1401C= (p.Asn467=) c.1353C= (p.Asn451=) c.1236C= (p.Asn412=) c.1218C= (p.Asn406=) | |
| 3 | g.69965071C>G | CA353559773 | MITF | c.1338C>G (p.Asn446Lys) c.1335C>G (p.Asn445Lys) n.1560C>G c.1311C>G (p.Asn437Lys) c.*149C>G (n.*149C>G) c.1404C>G (p.Asn468Lys) c.1083C>G (p.Asn361Lys) c.1383C>G (p.Asn461Lys) c.1386C>G (p.Asn462Lys) c.1065C>G (p.Asn355Lys) c.1230C>G (p.Asn410Lys) c.*730C>G (n.*730C>G) c.897C>G (p.Asn299Lys) c.1356C>G (p.Asn452Lys) c.1248C>G (p.Asn416Lys) c.1401C>G (p.Asn467Lys) c.1353C>G (p.Asn451Lys) c.1236C>G (p.Asn412Lys) c.1218C>G (p.Asn406Lys) | |
| 3 | g.69965071C>T | CA2490660 | MITF | c.1338C>T (p.Asn446=) c.1335C>T (p.Asn445=) n.1560C>T c.1311C>T (p.Asn437=) c.*149C>T (n.*149C>T) c.1404C>T (p.Asn468=) c.1083C>T (p.Asn361=) c.1383C>T (p.Asn461=) c.1386C>T (p.Asn462=) c.1065C>T (p.Asn355=) c.1230C>T (p.Asn410=) c.*730C>T (n.*730C>T) c.897C>T (p.Asn299=) c.1356C>T (p.Asn452=) c.1248C>T (p.Asn416=) c.1401C>T (p.Asn467=) c.1353C>T (p.Asn451=) c.1236C>T (p.Asn412=) c.1218C>T (p.Asn406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965072C>A | CA2490661 | MITF | c.1339C>A (p.Gln447Lys) c.1336C>A (p.Gln446Lys) n.1561C>A c.1312C>A (p.Gln438Lys) c.*150C>A (n.*150C>A) c.1405C>A (p.Gln469Lys) c.1084C>A (p.Gln362Lys) c.1384C>A (p.Gln462Lys) c.1387C>A (p.Gln463Lys) c.1066C>A (p.Gln356Lys) c.1231C>A (p.Gln411Lys) c.*731C>A (n.*731C>A) c.898C>A (p.Gln300Lys) c.1357C>A (p.Gln453Lys) c.1249C>A (p.Gln417Lys) c.1402C>A (p.Gln468Lys) c.1354C>A (p.Gln452Lys) c.1237C>A (p.Gln413Lys) c.1219C>A (p.Gln407Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965072C= | CA1373414302 | MITF | c.1339C= (p.Gln447=) c.1336C= (p.Gln446=) n.1561C= c.1312C= (p.Gln438=) c.*150C= (n.*150C=) c.1405C= (p.Gln469=) c.1084C= (p.Gln362=) c.1384C= (p.Gln462=) c.1387C= (p.Gln463=) c.1066C= (p.Gln356=) c.1231C= (p.Gln411=) c.*731C= (n.*731C=) c.898C= (p.Gln300=) c.1357C= (p.Gln453=) c.1249C= (p.Gln417=) c.1402C= (p.Gln468=) c.1354C= (p.Gln452=) c.1237C= (p.Gln413=) c.1219C= (p.Gln407=) | |
| 3 | g.69965072C>G | CA353559775 | MITF | c.1339C>G (p.Gln447Glu) c.1336C>G (p.Gln446Glu) n.1561C>G c.1312C>G (p.Gln438Glu) c.*150C>G (n.*150C>G) c.1405C>G (p.Gln469Glu) c.1084C>G (p.Gln362Glu) c.1384C>G (p.Gln462Glu) c.1387C>G (p.Gln463Glu) c.1066C>G (p.Gln356Glu) c.1231C>G (p.Gln411Glu) c.*731C>G (n.*731C>G) c.898C>G (p.Gln300Glu) c.1357C>G (p.Gln453Glu) c.1249C>G (p.Gln417Glu) c.1402C>G (p.Gln468Glu) c.1354C>G (p.Gln452Glu) c.1237C>G (p.Gln413Glu) c.1219C>G (p.Gln407Glu) | |
| 3 | g.69965072C>T | CA353559774 | MITF | c.1339C>T (p.Gln447Ter) c.1336C>T (p.Gln446Ter) n.1561C>T c.1312C>T (p.Gln438Ter) c.*150C>T (n.*150C>T) c.1405C>T (p.Gln469Ter) c.1084C>T (p.Gln362Ter) c.1384C>T (p.Gln462Ter) c.1387C>T (p.Gln463Ter) c.1066C>T (p.Gln356Ter) c.1231C>T (p.Gln411Ter) c.*731C>T (n.*731C>T) c.898C>T (p.Gln300Ter) c.1357C>T (p.Gln453Ter) c.1249C>T (p.Gln417Ter) c.1402C>T (p.Gln468Ter) c.1354C>T (p.Gln452Ter) c.1237C>T (p.Gln413Ter) c.1219C>T (p.Gln407Ter) | |
| 3 | g.69965073A= | CA1373414305 | MITF | c.1340A= (p.Gln447=) c.1337A= (p.Gln446=) n.1562A= c.1313A= (p.Gln438=) c.*151A= (n.*151A=) c.1406A= (p.Gln469=) c.1085A= (p.Gln362=) c.1385A= (p.Gln462=) c.1388A= (p.Gln463=) c.1067A= (p.Gln356=) c.1232A= (p.Gln411=) c.*732A= (n.*732A=) c.899A= (p.Gln300=) c.1358A= (p.Gln453=) c.1250A= (p.Gln417=) c.1403A= (p.Gln468=) c.1355A= (p.Gln452=) c.1238A= (p.Gln413=) c.1220A= (p.Gln407=) | |
| 3 | g.69965073A>C | CA353559776 | MITF | c.1340A>C (p.Gln447Pro) c.1337A>C (p.Gln446Pro) n.1562A>C c.1313A>C (p.Gln438Pro) c.*151A>C (n.*151A>C) c.1406A>C (p.Gln469Pro) c.1085A>C (p.Gln362Pro) c.1385A>C (p.Gln462Pro) c.1388A>C (p.Gln463Pro) c.1067A>C (p.Gln356Pro) c.1232A>C (p.Gln411Pro) c.*732A>C (n.*732A>C) c.899A>C (p.Gln300Pro) c.1358A>C (p.Gln453Pro) c.1250A>C (p.Gln417Pro) c.1403A>C (p.Gln468Pro) c.1355A>C (p.Gln452Pro) c.1238A>C (p.Gln413Pro) c.1220A>C (p.Gln407Pro) | |
| 3 | g.69965073A>G | CA353559777 | MITF | c.1340A>G (p.Gln447Arg) c.1337A>G (p.Gln446Arg) n.1562A>G c.1313A>G (p.Gln438Arg) c.*151A>G (n.*151A>G) c.1406A>G (p.Gln469Arg) c.1085A>G (p.Gln362Arg) c.1385A>G (p.Gln462Arg) c.1388A>G (p.Gln463Arg) c.1067A>G (p.Gln356Arg) c.1232A>G (p.Gln411Arg) c.*732A>G (n.*732A>G) c.899A>G (p.Gln300Arg) c.1358A>G (p.Gln453Arg) c.1250A>G (p.Gln417Arg) c.1403A>G (p.Gln468Arg) c.1355A>G (p.Gln452Arg) c.1238A>G (p.Gln413Arg) c.1220A>G (p.Gln407Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965073A>T | CA353559778 | MITF | c.1340A>T (p.Gln447Leu) c.1337A>T (p.Gln446Leu) n.1562A>T c.1313A>T (p.Gln438Leu) c.*151A>T (n.*151A>T) c.1406A>T (p.Gln469Leu) c.1085A>T (p.Gln362Leu) c.1385A>T (p.Gln462Leu) c.1388A>T (p.Gln463Leu) c.1067A>T (p.Gln356Leu) c.1232A>T (p.Gln411Leu) c.*732A>T (n.*732A>T) c.899A>T (p.Gln300Leu) c.1358A>T (p.Gln453Leu) c.1250A>T (p.Gln417Leu) c.1403A>T (p.Gln468Leu) c.1355A>T (p.Gln452Leu) c.1238A>T (p.Gln413Leu) c.1220A>T (p.Gln407Leu) | |
| 3 | g.69965074A>C | CA353559779 | MITF | c.1341A>C (p.Gln447His) c.1338A>C (p.Gln446His) n.1563A>C c.1314A>C (p.Gln438His) c.*152A>C (n.*152A>C) c.1407A>C (p.Gln469His) c.1086A>C (p.Gln362His) c.1386A>C (p.Gln462His) c.1389A>C (p.Gln463His) c.1068A>C (p.Gln356His) c.1233A>C (p.Gln411His) c.*733A>C (n.*733A>C) c.900A>C (p.Gln300His) c.1359A>C (p.Gln453His) c.1251A>C (p.Gln417His) c.1404A>C (p.Gln468His) c.1356A>C (p.Gln452His) c.1239A>C (p.Gln413His) c.1221A>C (p.Gln407His) | |
| 3 | g.69965074A>G | CA434433775 | MITF | c.1341A>G (p.Gln447=) c.1338A>G (p.Gln446=) n.1563A>G c.1314A>G (p.Gln438=) c.*152A>G (n.*152A>G) c.1407A>G (p.Gln469=) c.1086A>G (p.Gln362=) c.1386A>G (p.Gln462=) c.1389A>G (p.Gln463=) c.1068A>G (p.Gln356=) c.1233A>G (p.Gln411=) c.*733A>G (n.*733A>G) c.900A>G (p.Gln300=) c.1359A>G (p.Gln453=) c.1251A>G (p.Gln417=) c.1404A>G (p.Gln468=) c.1356A>G (p.Gln452=) c.1239A>G (p.Gln413=) c.1221A>G (p.Gln407=) | |
| 3 | g.69965074A>T | CA353559780 | MITF | c.1341A>T (p.Gln447His) c.1338A>T (p.Gln446His) n.1563A>T c.1314A>T (p.Gln438His) c.*152A>T (n.*152A>T) c.1407A>T (p.Gln469His) c.1086A>T (p.Gln362His) c.1386A>T (p.Gln462His) c.1389A>T (p.Gln463His) c.1068A>T (p.Gln356His) c.1233A>T (p.Gln411His) c.*733A>T (n.*733A>T) c.900A>T (p.Gln300His) c.1359A>T (p.Gln453His) c.1251A>T (p.Gln417His) c.1404A>T (p.Gln468His) c.1356A>T (p.Gln452His) c.1239A>T (p.Gln413His) c.1221A>T (p.Gln407His) | |
| 3 | g.69965075G>A | CA353559781 | MITF | c.1342G>A (p.Ala448Thr) c.1339G>A (p.Ala447Thr) n.1564G>A c.1315G>A (p.Ala439Thr) c.*153G>A (n.*153G>A) c.1408G>A (p.Ala470Thr) c.1087G>A (p.Ala363Thr) c.1387G>A (p.Ala463Thr) c.1390G>A (p.Ala464Thr) c.1069G>A (p.Ala357Thr) c.1234G>A (p.Ala412Thr) c.*734G>A (n.*734G>A) c.901G>A (p.Ala301Thr) c.1360G>A (p.Ala454Thr) c.1252G>A (p.Ala418Thr) c.1405G>A (p.Ala469Thr) c.1357G>A (p.Ala453Thr) c.1240G>A (p.Ala414Thr) c.1222G>A (p.Ala408Thr) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965075G>C | CA353559782 | MITF | c.1342G>C (p.Ala448Pro) c.1339G>C (p.Ala447Pro) n.1564G>C c.1315G>C (p.Ala439Pro) c.*153G>C (n.*153G>C) c.1408G>C (p.Ala470Pro) c.1087G>C (p.Ala363Pro) c.1387G>C (p.Ala463Pro) c.1390G>C (p.Ala464Pro) c.1069G>C (p.Ala357Pro) c.1234G>C (p.Ala412Pro) c.*734G>C (n.*734G>C) c.901G>C (p.Ala301Pro) c.1360G>C (p.Ala454Pro) c.1252G>C (p.Ala418Pro) c.1405G>C (p.Ala469Pro) c.1357G>C (p.Ala453Pro) c.1240G>C (p.Ala414Pro) c.1222G>C (p.Ala408Pro) | |
| 3 | g.69965075G>T | CA353559783 | MITF | c.1342G>T (p.Ala448Ser) c.1339G>T (p.Ala447Ser) n.1564G>T c.1315G>T (p.Ala439Ser) c.*153G>T (n.*153G>T) c.1408G>T (p.Ala470Ser) c.1087G>T (p.Ala363Ser) c.1387G>T (p.Ala463Ser) c.1390G>T (p.Ala464Ser) c.1069G>T (p.Ala357Ser) c.1234G>T (p.Ala412Ser) c.*734G>T (n.*734G>T) c.901G>T (p.Ala301Ser) c.1360G>T (p.Ala454Ser) c.1252G>T (p.Ala418Ser) c.1405G>T (p.Ala469Ser) c.1357G>T (p.Ala453Ser) c.1240G>T (p.Ala414Ser) c.1222G>T (p.Ala408Ser) | |
| 3 | g.69965076C>A | CA2490662 | MITF | c.1343C>A (p.Ala448Asp) c.1340C>A (p.Ala447Asp) n.1565C>A c.1316C>A (p.Ala439Asp) c.*154C>A (n.*154C>A) c.1409C>A (p.Ala470Asp) c.1088C>A (p.Ala363Asp) c.1388C>A (p.Ala463Asp) c.1391C>A (p.Ala464Asp) c.1070C>A (p.Ala357Asp) c.1235C>A (p.Ala412Asp) c.*735C>A (n.*735C>A) c.902C>A (p.Ala301Asp) c.1361C>A (p.Ala454Asp) c.1253C>A (p.Ala418Asp) c.1406C>A (p.Ala469Asp) c.1358C>A (p.Ala453Asp) c.1241C>A (p.Ala414Asp) c.1223C>A (p.Ala408Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965076C= | CA1373414309 | MITF | c.1343C= (p.Ala448=) c.1340C= (p.Ala447=) n.1565C= c.1316C= (p.Ala439=) c.*154C= (n.*154C=) c.1409C= (p.Ala470=) c.1088C= (p.Ala363=) c.1388C= (p.Ala463=) c.1391C= (p.Ala464=) c.1070C= (p.Ala357=) c.1235C= (p.Ala412=) c.*735C= (n.*735C=) c.902C= (p.Ala301=) c.1361C= (p.Ala454=) c.1253C= (p.Ala418=) c.1406C= (p.Ala469=) c.1358C= (p.Ala453=) c.1241C= (p.Ala414=) c.1223C= (p.Ala408=) | |
| 3 | g.69965076C>G | CA353559784 | MITF | c.1343C>G (p.Ala448Gly) c.1340C>G (p.Ala447Gly) n.1565C>G c.1316C>G (p.Ala439Gly) c.*154C>G (n.*154C>G) c.1409C>G (p.Ala470Gly) c.1088C>G (p.Ala363Gly) c.1388C>G (p.Ala463Gly) c.1391C>G (p.Ala464Gly) c.1070C>G (p.Ala357Gly) c.1235C>G (p.Ala412Gly) c.*735C>G (n.*735C>G) c.902C>G (p.Ala301Gly) c.1361C>G (p.Ala454Gly) c.1253C>G (p.Ala418Gly) c.1406C>G (p.Ala469Gly) c.1358C>G (p.Ala453Gly) c.1241C>G (p.Ala414Gly) c.1223C>G (p.Ala408Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965076C>T | CA353559785 | MITF | c.1343C>T (p.Ala448Val) c.1340C>T (p.Ala447Val) n.1565C>T c.1316C>T (p.Ala439Val) c.*154C>T (n.*154C>T) c.1409C>T (p.Ala470Val) c.1088C>T (p.Ala363Val) c.1388C>T (p.Ala463Val) c.1391C>T (p.Ala464Val) c.1070C>T (p.Ala357Val) c.1235C>T (p.Ala412Val) c.*735C>T (n.*735C>T) c.902C>T (p.Ala301Val) c.1361C>T (p.Ala454Val) c.1253C>T (p.Ala418Val) c.1406C>T (p.Ala469Val) c.1358C>T (p.Ala453Val) c.1241C>T (p.Ala414Val) c.1223C>T (p.Ala408Val) | |
| 3 | g.69965077C>A | CA434433776 | MITF | c.1344C>A (p.Ala448=) c.1341C>A (p.Ala447=) n.1566C>A c.1317C>A (p.Ala439=) c.*155C>A (n.*155C>A) c.1410C>A (p.Ala470=) c.1089C>A (p.Ala363=) c.1389C>A (p.Ala463=) c.1392C>A (p.Ala464=) c.1071C>A (p.Ala357=) c.1236C>A (p.Ala412=) c.*736C>A (n.*736C>A) c.903C>A (p.Ala301=) c.1362C>A (p.Ala454=) c.1254C>A (p.Ala418=) c.1407C>A (p.Ala469=) c.1359C>A (p.Ala453=) c.1242C>A (p.Ala414=) c.1224C>A (p.Ala408=) | dbSNP gnomAD v4 |
| 3 | g.69965077C>G | CA434433777 | MITF | c.1344C>G (p.Ala448=) c.1341C>G (p.Ala447=) n.1566C>G c.1317C>G (p.Ala439=) c.*155C>G (n.*155C>G) c.1410C>G (p.Ala470=) c.1089C>G (p.Ala363=) c.1389C>G (p.Ala463=) c.1392C>G (p.Ala464=) c.1071C>G (p.Ala357=) c.1236C>G (p.Ala412=) c.*736C>G (n.*736C>G) c.903C>G (p.Ala301=) c.1362C>G (p.Ala454=) c.1254C>G (p.Ala418=) c.1407C>G (p.Ala469=) c.1359C>G (p.Ala453=) c.1242C>G (p.Ala414=) c.1224C>G (p.Ala408=) | |
| 3 | g.69965077C>T | CA434433778 | MITF | c.1344C>T (p.Ala448=) c.1341C>T (p.Ala447=) n.1566C>T c.1317C>T (p.Ala439=) c.*155C>T (n.*155C>T) c.1410C>T (p.Ala470=) c.1089C>T (p.Ala363=) c.1389C>T (p.Ala463=) c.1392C>T (p.Ala464=) c.1071C>T (p.Ala357=) c.1236C>T (p.Ala412=) c.*736C>T (n.*736C>T) c.903C>T (p.Ala301=) c.1362C>T (p.Ala454=) c.1254C>T (p.Ala418=) c.1407C>T (p.Ala469=) c.1359C>T (p.Ala453=) c.1242C>T (p.Ala414=) c.1224C>T (p.Ala408=) | gnomAD v4 |
| 3 | g.69965078T>A | CA353559788 | MITF | c.1345T>A (p.Tyr449Asn) c.1342T>A (p.Tyr448Asn) n.1567T>A c.1318T>A (p.Tyr440Asn) c.*156T>A (n.*156T>A) c.1411T>A (p.Tyr471Asn) c.1090T>A (p.Tyr364Asn) c.1390T>A (p.Tyr464Asn) c.1393T>A (p.Tyr465Asn) c.1072T>A (p.Tyr358Asn) c.1237T>A (p.Tyr413Asn) c.*737T>A (n.*737T>A) c.904T>A (p.Tyr302Asn) c.1363T>A (p.Tyr455Asn) c.1255T>A (p.Tyr419Asn) c.1408T>A (p.Tyr470Asn) c.1360T>A (p.Tyr454Asn) c.1243T>A (p.Tyr415Asn) c.1225T>A (p.Tyr409Asn) | |
| 3 | g.69965078T>C | CA353559786 | MITF | c.1345T>C (p.Tyr449His) c.1342T>C (p.Tyr448His) n.1567T>C c.1318T>C (p.Tyr440His) c.*156T>C (n.*156T>C) c.1411T>C (p.Tyr471His) c.1090T>C (p.Tyr364His) c.1390T>C (p.Tyr464His) c.1393T>C (p.Tyr465His) c.1072T>C (p.Tyr358His) c.1237T>C (p.Tyr413His) c.*737T>C (n.*737T>C) c.904T>C (p.Tyr302His) c.1363T>C (p.Tyr455His) c.1255T>C (p.Tyr419His) c.1408T>C (p.Tyr470His) c.1360T>C (p.Tyr454His) c.1243T>C (p.Tyr415His) c.1225T>C (p.Tyr409His) | |
| 3 | g.69965078T>G | CA353559787 | MITF | c.1345T>G (p.Tyr449Asp) c.1342T>G (p.Tyr448Asp) n.1567T>G c.1318T>G (p.Tyr440Asp) c.*156T>G (n.*156T>G) c.1411T>G (p.Tyr471Asp) c.1090T>G (p.Tyr364Asp) c.1390T>G (p.Tyr464Asp) c.1393T>G (p.Tyr465Asp) c.1072T>G (p.Tyr358Asp) c.1237T>G (p.Tyr413Asp) c.*737T>G (n.*737T>G) c.904T>G (p.Tyr302Asp) c.1363T>G (p.Tyr455Asp) c.1255T>G (p.Tyr419Asp) c.1408T>G (p.Tyr470Asp) c.1360T>G (p.Tyr454Asp) c.1243T>G (p.Tyr415Asp) c.1225T>G (p.Tyr409Asp) | |
| 3 | g.69965079A= | CA1373414314 | MITF | c.1346A= (p.Tyr449=) c.1343A= (p.Tyr448=) n.1568A= c.1319A= (p.Tyr440=) c.*157A= (n.*157A=) c.1412A= (p.Tyr471=) c.1091A= (p.Tyr364=) c.1391A= (p.Tyr464=) c.1394A= (p.Tyr465=) c.1073A= (p.Tyr358=) c.1238A= (p.Tyr413=) c.*738A= (n.*738A=) c.905A= (p.Tyr302=) c.1364A= (p.Tyr455=) c.1256A= (p.Tyr419=) c.1409A= (p.Tyr470=) c.1361A= (p.Tyr454=) c.1244A= (p.Tyr415=) c.1226A= (p.Tyr409=) | |
| 3 | g.69965079A>C | CA353559789 | MITF | c.1346A>C (p.Tyr449Ser) c.1343A>C (p.Tyr448Ser) n.1568A>C c.1319A>C (p.Tyr440Ser) c.*157A>C (n.*157A>C) c.1412A>C (p.Tyr471Ser) c.1091A>C (p.Tyr364Ser) c.1391A>C (p.Tyr464Ser) c.1394A>C (p.Tyr465Ser) c.1073A>C (p.Tyr358Ser) c.1238A>C (p.Tyr413Ser) c.*738A>C (n.*738A>C) c.905A>C (p.Tyr302Ser) c.1364A>C (p.Tyr455Ser) c.1256A>C (p.Tyr419Ser) c.1409A>C (p.Tyr470Ser) c.1361A>C (p.Tyr454Ser) c.1244A>C (p.Tyr415Ser) c.1226A>C (p.Tyr409Ser) | |
| 3 | g.69965079A>G | CA2490663 | MITF | c.1346A>G (p.Tyr449Cys) c.1343A>G (p.Tyr448Cys) n.1568A>G c.1319A>G (p.Tyr440Cys) c.*157A>G (n.*157A>G) c.1412A>G (p.Tyr471Cys) c.1091A>G (p.Tyr364Cys) c.1391A>G (p.Tyr464Cys) c.1394A>G (p.Tyr465Cys) c.1073A>G (p.Tyr358Cys) c.1238A>G (p.Tyr413Cys) c.*738A>G (n.*738A>G) c.905A>G (p.Tyr302Cys) c.1364A>G (p.Tyr455Cys) c.1256A>G (p.Tyr419Cys) c.1409A>G (p.Tyr470Cys) c.1361A>G (p.Tyr454Cys) c.1244A>G (p.Tyr415Cys) c.1226A>G (p.Tyr409Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.69965079A>T | CA2490664 | MITF | c.1346A>T (p.Tyr449Phe) c.1343A>T (p.Tyr448Phe) n.1568A>T c.1319A>T (p.Tyr440Phe) c.*157A>T (n.*157A>T) c.1412A>T (p.Tyr471Phe) c.1091A>T (p.Tyr364Phe) c.1391A>T (p.Tyr464Phe) c.1394A>T (p.Tyr465Phe) c.1073A>T (p.Tyr358Phe) c.1238A>T (p.Tyr413Phe) c.*738A>T (n.*738A>T) c.905A>T (p.Tyr302Phe) c.1364A>T (p.Tyr455Phe) c.1256A>T (p.Tyr419Phe) c.1409A>T (p.Tyr470Phe) c.1361A>T (p.Tyr454Phe) c.1244A>T (p.Tyr415Phe) c.1226A>T (p.Tyr409Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965080T>A | CA353559790 | MITF | c.1347T>A (p.Tyr449Ter) c.1344T>A (p.Tyr448Ter) n.1569T>A c.1320T>A (p.Tyr440Ter) c.*158T>A (n.*158T>A) c.1413T>A (p.Tyr471Ter) c.1092T>A (p.Tyr364Ter) c.1392T>A (p.Tyr464Ter) c.1395T>A (p.Tyr465Ter) c.1074T>A (p.Tyr358Ter) c.1239T>A (p.Tyr413Ter) c.*739T>A (n.*739T>A) c.906T>A (p.Tyr302Ter) c.1365T>A (p.Tyr455Ter) c.1257T>A (p.Tyr419Ter) c.1410T>A (p.Tyr470Ter) c.1362T>A (p.Tyr454Ter) c.1245T>A (p.Tyr415Ter) c.1227T>A (p.Tyr409Ter) | |
| 3 | g.69965080T>C | CA434433779 | MITF | c.1347T>C (p.Tyr449=) c.1344T>C (p.Tyr448=) n.1569T>C c.1320T>C (p.Tyr440=) c.*158T>C (n.*158T>C) c.1413T>C (p.Tyr471=) c.1092T>C (p.Tyr364=) c.1392T>C (p.Tyr464=) c.1395T>C (p.Tyr465=) c.1074T>C (p.Tyr358=) c.1239T>C (p.Tyr413=) c.*739T>C (n.*739T>C) c.906T>C (p.Tyr302=) c.1365T>C (p.Tyr455=) c.1257T>C (p.Tyr419=) c.1410T>C (p.Tyr470=) c.1362T>C (p.Tyr454=) c.1245T>C (p.Tyr415=) c.1227T>C (p.Tyr409=) | gnomAD v4 |
| 3 | g.69965080T>G | CA353559791 | MITF | c.1347T>G (p.Tyr449Ter) c.1344T>G (p.Tyr448Ter) n.1569T>G c.1320T>G (p.Tyr440Ter) c.*158T>G (n.*158T>G) c.1413T>G (p.Tyr471Ter) c.1092T>G (p.Tyr364Ter) c.1392T>G (p.Tyr464Ter) c.1395T>G (p.Tyr465Ter) c.1074T>G (p.Tyr358Ter) c.1239T>G (p.Tyr413Ter) c.*739T>G (n.*739T>G) c.906T>G (p.Tyr302Ter) c.1365T>G (p.Tyr455Ter) c.1257T>G (p.Tyr419Ter) c.1410T>G (p.Tyr470Ter) c.1362T>G (p.Tyr454Ter) c.1245T>G (p.Tyr415Ter) c.1227T>G (p.Tyr409Ter) | |
| 3 | g.69965081A= | CA1373414321 | MITF | c.1348A= (p.Ser450=) c.1345A= (p.Ser449=) n.1570A= c.1321A= (p.Ser441=) c.*159A= (n.*159A=) c.1414A= (p.Ser472=) c.1093A= (p.Ser365=) c.1393A= (p.Ser465=) c.1396A= (p.Ser466=) c.1075A= (p.Ser359=) c.1240A= (p.Ser414=) c.*740A= (n.*740A=) c.907A= (p.Ser303=) c.1366A= (p.Ser456=) c.1258A= (p.Ser420=) c.1411A= (p.Ser471=) c.1363A= (p.Ser455=) c.1246A= (p.Ser416=) c.1228A= (p.Ser410=) | |
| 3 | g.69965081A>C | CA353559792 | MITF | c.1348A>C (p.Ser450Arg) c.1345A>C (p.Ser449Arg) n.1570A>C c.1321A>C (p.Ser441Arg) c.*159A>C (n.*159A>C) c.1414A>C (p.Ser472Arg) c.1093A>C (p.Ser365Arg) c.1393A>C (p.Ser465Arg) c.1396A>C (p.Ser466Arg) c.1075A>C (p.Ser359Arg) c.1240A>C (p.Ser414Arg) c.*740A>C (n.*740A>C) c.907A>C (p.Ser303Arg) c.1366A>C (p.Ser456Arg) c.1258A>C (p.Ser420Arg) c.1411A>C (p.Ser471Arg) c.1363A>C (p.Ser455Arg) c.1246A>C (p.Ser416Arg) c.1228A>C (p.Ser410Arg) | |
| 3 | g.69965081A>G | CA353559793 | MITF | c.1348A>G (p.Ser450Gly) c.1345A>G (p.Ser449Gly) n.1570A>G c.1321A>G (p.Ser441Gly) c.*159A>G (n.*159A>G) c.1414A>G (p.Ser472Gly) c.1093A>G (p.Ser365Gly) c.1393A>G (p.Ser465Gly) c.1396A>G (p.Ser466Gly) c.1075A>G (p.Ser359Gly) c.1240A>G (p.Ser414Gly) c.*740A>G (n.*740A>G) c.907A>G (p.Ser303Gly) c.1366A>G (p.Ser456Gly) c.1258A>G (p.Ser420Gly) c.1411A>G (p.Ser471Gly) c.1363A>G (p.Ser455Gly) c.1246A>G (p.Ser416Gly) c.1228A>G (p.Ser410Gly) | dbSNP |
| 3 | g.69965081A>T | CA353559794 | MITF | c.1348A>T (p.Ser450Cys) c.1345A>T (p.Ser449Cys) n.1570A>T c.1321A>T (p.Ser441Cys) c.*159A>T (n.*159A>T) c.1414A>T (p.Ser472Cys) c.1093A>T (p.Ser365Cys) c.1393A>T (p.Ser465Cys) c.1396A>T (p.Ser466Cys) c.1075A>T (p.Ser359Cys) c.1240A>T (p.Ser414Cys) c.*740A>T (n.*740A>T) c.907A>T (p.Ser303Cys) c.1366A>T (p.Ser456Cys) c.1258A>T (p.Ser420Cys) c.1411A>T (p.Ser471Cys) c.1363A>T (p.Ser455Cys) c.1246A>T (p.Ser416Cys) c.1228A>T (p.Ser410Cys) | gnomAD v4 |
| 3 | g.69965082G>A | CA353559795 | MITF | c.1349G>A (p.Ser450Asn) c.1346G>A (p.Ser449Asn) n.1571G>A c.1322G>A (p.Ser441Asn) c.*160G>A (n.*160G>A) c.1415G>A (p.Ser472Asn) c.1094G>A (p.Ser365Asn) c.1394G>A (p.Ser465Asn) c.1397G>A (p.Ser466Asn) c.1076G>A (p.Ser359Asn) c.1241G>A (p.Ser414Asn) c.*741G>A (n.*741G>A) c.908G>A (p.Ser303Asn) c.1367G>A (p.Ser456Asn) c.1259G>A (p.Ser420Asn) c.1412G>A (p.Ser471Asn) c.1364G>A (p.Ser455Asn) c.1247G>A (p.Ser416Asn) c.1229G>A (p.Ser410Asn) | dbSNP gnomAD v4 |
| 3 | g.69965082G>C | CA353559796 | MITF | c.1349G>C (p.Ser450Thr) c.1346G>C (p.Ser449Thr) n.1571G>C c.1322G>C (p.Ser441Thr) c.*160G>C (n.*160G>C) c.1415G>C (p.Ser472Thr) c.1094G>C (p.Ser365Thr) c.1394G>C (p.Ser465Thr) c.1397G>C (p.Ser466Thr) c.1076G>C (p.Ser359Thr) c.1241G>C (p.Ser414Thr) c.*741G>C (n.*741G>C) c.908G>C (p.Ser303Thr) c.1367G>C (p.Ser456Thr) c.1259G>C (p.Ser420Thr) c.1412G>C (p.Ser471Thr) c.1364G>C (p.Ser455Thr) c.1247G>C (p.Ser416Thr) c.1229G>C (p.Ser410Thr) | |
| 3 | g.69965082G= | CA1373414323 | MITF | c.1349G= (p.Ser450=) c.1346G= (p.Ser449=) n.1571G= c.1322G= (p.Ser441=) c.*160G= (n.*160G=) c.1415G= (p.Ser472=) c.1094G= (p.Ser365=) c.1394G= (p.Ser465=) c.1397G= (p.Ser466=) c.1076G= (p.Ser359=) c.1241G= (p.Ser414=) c.*741G= (n.*741G=) c.908G= (p.Ser303=) c.1367G= (p.Ser456=) c.1259G= (p.Ser420=) c.1412G= (p.Ser471=) c.1364G= (p.Ser455=) c.1247G= (p.Ser416=) c.1229G= (p.Ser410=) | |
| 3 | g.69965082G>T | CA353559797 | MITF | c.1349G>T (p.Ser450Ile) c.1346G>T (p.Ser449Ile) n.1571G>T c.1322G>T (p.Ser441Ile) c.*160G>T (n.*160G>T) c.1415G>T (p.Ser472Ile) c.1094G>T (p.Ser365Ile) c.1394G>T (p.Ser465Ile) c.1397G>T (p.Ser466Ile) c.1076G>T (p.Ser359Ile) c.1241G>T (p.Ser414Ile) c.*741G>T (n.*741G>T) c.908G>T (p.Ser303Ile) c.1367G>T (p.Ser456Ile) c.1259G>T (p.Ser420Ile) c.1412G>T (p.Ser471Ile) c.1364G>T (p.Ser455Ile) c.1247G>T (p.Ser416Ile) c.1229G>T (p.Ser410Ile) | |
| 3 | g.69965083T>A | CA353559798 | MITF | c.1350T>A (p.Ser450Arg) c.1347T>A (p.Ser449Arg) n.1572T>A c.1323T>A (p.Ser441Arg) c.*161T>A (n.*161T>A) c.1416T>A (p.Ser472Arg) c.1095T>A (p.Ser365Arg) c.1395T>A (p.Ser465Arg) c.1398T>A (p.Ser466Arg) c.1077T>A (p.Ser359Arg) c.1242T>A (p.Ser414Arg) c.*742T>A (n.*742T>A) c.909T>A (p.Ser303Arg) c.1368T>A (p.Ser456Arg) c.1260T>A (p.Ser420Arg) c.1413T>A (p.Ser471Arg) c.1365T>A (p.Ser455Arg) c.1248T>A (p.Ser416Arg) c.1230T>A (p.Ser410Arg) | |
| 3 | g.69965083T>C | CA434433780 | MITF | c.1350T>C (p.Ser450=) c.1347T>C (p.Ser449=) n.1572T>C c.1323T>C (p.Ser441=) c.*161T>C (n.*161T>C) c.1416T>C (p.Ser472=) c.1095T>C (p.Ser365=) c.1395T>C (p.Ser465=) c.1398T>C (p.Ser466=) c.1077T>C (p.Ser359=) c.1242T>C (p.Ser414=) c.*742T>C (n.*742T>C) c.909T>C (p.Ser303=) c.1368T>C (p.Ser456=) c.1260T>C (p.Ser420=) c.1413T>C (p.Ser471=) c.1365T>C (p.Ser455=) c.1248T>C (p.Ser416=) c.1230T>C (p.Ser410=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965083T>G | CA353559799 | MITF | c.1350T>G (p.Ser450Arg) c.1347T>G (p.Ser449Arg) n.1572T>G c.1323T>G (p.Ser441Arg) c.*161T>G (n.*161T>G) c.1416T>G (p.Ser472Arg) c.1095T>G (p.Ser365Arg) c.1395T>G (p.Ser465Arg) c.1398T>G (p.Ser466Arg) c.1077T>G (p.Ser359Arg) c.1242T>G (p.Ser414Arg) c.*742T>G (n.*742T>G) c.909T>G (p.Ser303Arg) c.1368T>G (p.Ser456Arg) c.1260T>G (p.Ser420Arg) c.1413T>G (p.Ser471Arg) c.1365T>G (p.Ser455Arg) c.1248T>G (p.Ser416Arg) c.1230T>G (p.Ser410Arg) | |
| 3 | g.69965083T= | CA1373414325 | MITF | c.1350T= (p.Ser450=) c.1347T= (p.Ser449=) n.1572T= c.1323T= (p.Ser441=) c.*161T= (n.*161T=) c.1416T= (p.Ser472=) c.1095T= (p.Ser365=) c.1395T= (p.Ser465=) c.1398T= (p.Ser466=) c.1077T= (p.Ser359=) c.1242T= (p.Ser414=) c.*742T= (n.*742T=) c.909T= (p.Ser303=) c.1368T= (p.Ser456=) c.1260T= (p.Ser420=) c.1413T= (p.Ser471=) c.1365T= (p.Ser455=) c.1248T= (p.Ser416=) c.1230T= (p.Ser410=) | |
| 3 | g.69965084G>A | CA353559800 | MITF | c.1351G>A (p.Val451Ile) c.1348G>A (p.Val450Ile) n.1573G>A c.1324G>A (p.Val442Ile) c.*162G>A (n.*162G>A) c.1417G>A (p.Val473Ile) c.1096G>A (p.Val366Ile) c.1396G>A (p.Val466Ile) c.1399G>A (p.Val467Ile) c.1078G>A (p.Val360Ile) c.1243G>A (p.Val415Ile) c.*743G>A (n.*743G>A) c.910G>A (p.Val304Ile) c.1369G>A (p.Val457Ile) c.1261G>A (p.Val421Ile) c.1414G>A (p.Val472Ile) c.1366G>A (p.Val456Ile) c.1249G>A (p.Val417Ile) c.1231G>A (p.Val411Ile) | ClinVar dbSNP |
| 3 | g.69965084G>C | CA353559801 | MITF | c.1351G>C (p.Val451Leu) c.1348G>C (p.Val450Leu) n.1573G>C c.1324G>C (p.Val442Leu) c.*162G>C (n.*162G>C) c.1417G>C (p.Val473Leu) c.1096G>C (p.Val366Leu) c.1396G>C (p.Val466Leu) c.1399G>C (p.Val467Leu) c.1078G>C (p.Val360Leu) c.1243G>C (p.Val415Leu) c.*743G>C (n.*743G>C) c.910G>C (p.Val304Leu) c.1369G>C (p.Val457Leu) c.1261G>C (p.Val421Leu) c.1414G>C (p.Val472Leu) c.1366G>C (p.Val456Leu) c.1249G>C (p.Val417Leu) c.1231G>C (p.Val411Leu) | |
| 3 | g.69965084G>T | CA353559802 | MITF | c.1351G>T (p.Val451Phe) c.1348G>T (p.Val450Phe) n.1573G>T c.1324G>T (p.Val442Phe) c.*162G>T (n.*162G>T) c.1417G>T (p.Val473Phe) c.1096G>T (p.Val366Phe) c.1396G>T (p.Val466Phe) c.1399G>T (p.Val467Phe) c.1078G>T (p.Val360Phe) c.1243G>T (p.Val415Phe) c.*743G>T (n.*743G>T) c.910G>T (p.Val304Phe) c.1369G>T (p.Val457Phe) c.1261G>T (p.Val421Phe) c.1414G>T (p.Val472Phe) c.1366G>T (p.Val456Phe) c.1249G>T (p.Val417Phe) c.1231G>T (p.Val411Phe) | |
| 3 | g.69965085T>A | CA353559803 | MITF | c.1352T>A (p.Val451Asp) c.1349T>A (p.Val450Asp) n.1574T>A c.1325T>A (p.Val442Asp) c.*163T>A (n.*163T>A) c.1418T>A (p.Val473Asp) c.1097T>A (p.Val366Asp) c.1397T>A (p.Val466Asp) c.1400T>A (p.Val467Asp) c.1079T>A (p.Val360Asp) c.1244T>A (p.Val415Asp) c.*744T>A (n.*744T>A) c.911T>A (p.Val304Asp) c.1370T>A (p.Val457Asp) c.1262T>A (p.Val421Asp) c.1415T>A (p.Val472Asp) c.1367T>A (p.Val456Asp) c.1250T>A (p.Val417Asp) c.1232T>A (p.Val411Asp) | |
| 3 | g.69965085T>C | CA353559804 | MITF | c.1352T>C (p.Val451Ala) c.1349T>C (p.Val450Ala) n.1574T>C c.1325T>C (p.Val442Ala) c.*163T>C (n.*163T>C) c.1418T>C (p.Val473Ala) c.1097T>C (p.Val366Ala) c.1397T>C (p.Val466Ala) c.1400T>C (p.Val467Ala) c.1079T>C (p.Val360Ala) c.1244T>C (p.Val415Ala) c.*744T>C (n.*744T>C) c.911T>C (p.Val304Ala) c.1370T>C (p.Val457Ala) c.1262T>C (p.Val421Ala) c.1415T>C (p.Val472Ala) c.1367T>C (p.Val456Ala) c.1250T>C (p.Val417Ala) c.1232T>C (p.Val411Ala) | |
| 3 | g.69965085T>G | CA353559805 | MITF | c.1352T>G (p.Val451Gly) c.1349T>G (p.Val450Gly) n.1574T>G c.1325T>G (p.Val442Gly) c.*163T>G (n.*163T>G) c.1418T>G (p.Val473Gly) c.1097T>G (p.Val366Gly) c.1397T>G (p.Val466Gly) c.1400T>G (p.Val467Gly) c.1079T>G (p.Val360Gly) c.1244T>G (p.Val415Gly) c.*744T>G (n.*744T>G) c.911T>G (p.Val304Gly) c.1370T>G (p.Val457Gly) c.1262T>G (p.Val421Gly) c.1415T>G (p.Val472Gly) c.1367T>G (p.Val456Gly) c.1250T>G (p.Val417Gly) c.1232T>G (p.Val411Gly) | |
| 3 | g.69965086C>A | CA2490665 | MITF | c.1353C>A (p.Val451=) c.1350C>A (p.Val450=) n.1575C>A c.1326C>A (p.Val442=) c.*164C>A (n.*164C>A) c.1419C>A (p.Val473=) c.1098C>A (p.Val366=) c.1398C>A (p.Val466=) c.1401C>A (p.Val467=) c.1080C>A (p.Val360=) c.1245C>A (p.Val415=) c.*745C>A (n.*745C>A) c.912C>A (p.Val304=) c.1371C>A (p.Val457=) c.1263C>A (p.Val421=) c.1416C>A (p.Val472=) c.1368C>A (p.Val456=) c.1251C>A (p.Val417=) c.1233C>A (p.Val411=) | dbSNP ExAC gnomAD v2 |
| 3 | g.69965086C= | CA1373414327 | MITF | c.1353C= (p.Val451=) c.1350C= (p.Val450=) n.1575C= c.1326C= (p.Val442=) c.*164C= (n.*164C=) c.1419C= (p.Val473=) c.1098C= (p.Val366=) c.1398C= (p.Val466=) c.1401C= (p.Val467=) c.1080C= (p.Val360=) c.1245C= (p.Val415=) c.*745C= (n.*745C=) c.912C= (p.Val304=) c.1371C= (p.Val457=) c.1263C= (p.Val421=) c.1416C= (p.Val472=) c.1368C= (p.Val456=) c.1251C= (p.Val417=) c.1233C= (p.Val411=) | |
| 3 | g.69965086C>G | CA434433782 | MITF | c.1353C>G (p.Val451=) c.1350C>G (p.Val450=) n.1575C>G c.1326C>G (p.Val442=) c.*164C>G (n.*164C>G) c.1419C>G (p.Val473=) c.1098C>G (p.Val366=) c.1398C>G (p.Val466=) c.1401C>G (p.Val467=) c.1080C>G (p.Val360=) c.1245C>G (p.Val415=) c.*745C>G (n.*745C>G) c.912C>G (p.Val304=) c.1371C>G (p.Val457=) c.1263C>G (p.Val421=) c.1416C>G (p.Val472=) c.1368C>G (p.Val456=) c.1251C>G (p.Val417=) c.1233C>G (p.Val411=) | |
| 3 | g.69965086C>T | CA434433781 | MITF | c.1353C>T (p.Val451=) c.1350C>T (p.Val450=) n.1575C>T c.1326C>T (p.Val442=) c.*164C>T (n.*164C>T) c.1419C>T (p.Val473=) c.1098C>T (p.Val366=) c.1398C>T (p.Val466=) c.1401C>T (p.Val467=) c.1080C>T (p.Val360=) c.1245C>T (p.Val415=) c.*745C>T (n.*745C>T) c.912C>T (p.Val304=) c.1371C>T (p.Val457=) c.1263C>T (p.Val421=) c.1416C>T (p.Val472=) c.1368C>T (p.Val456=) c.1251C>T (p.Val417=) c.1233C>T (p.Val411=) | dbSNP |
| 3 | g.69965086_69965096del | CA2666480944 | MITF | c.1353_1363del (p.Pro452GlyfsTer20) c.1350_1360del (p.Pro451GlyfsTer20) n.1575_1585del c.1326_1336del (p.Pro443GlyfsTer20) c.*164_*174del (n.*164_*174del) c.1419_1429del (p.Pro474GlyfsTer20) c.1098_1108del (p.Pro367GlyfsTer20) c.1398_1408del (p.Pro467GlyfsTer20) c.1401_1411del (p.Pro468GlyfsTer20) c.1080_1090del (p.Pro361GlyfsTer20) c.1245_1255del (p.Pro416GlyfsTer20) c.*745_*755del (n.*745_*755del) c.912_922del (p.Pro305GlyfsTer20) c.1371_1381del (p.Pro458GlyfsTer20) c.1263_1273del (p.Pro422GlyfsTer20) c.1416_1426del (p.Pro473GlyfsTer20) c.1368_1378del (p.Pro457GlyfsTer20) c.1251_1261del (p.Pro418GlyfsTer20) c.1233_1243del (p.Pro412GlyfsTer20) | gnomAD v4 |
| 3 | g.69965087C>A | CA353559806 | MITF | c.1354C>A (p.Pro452Thr) c.1351C>A (p.Pro451Thr) n.1576C>A c.1327C>A (p.Pro443Thr) c.*165C>A (n.*165C>A) c.1420C>A (p.Pro474Thr) c.1099C>A (p.Pro367Thr) c.1399C>A (p.Pro467Thr) c.1402C>A (p.Pro468Thr) c.1081C>A (p.Pro361Thr) c.1246C>A (p.Pro416Thr) c.*746C>A (n.*746C>A) c.913C>A (p.Pro305Thr) c.1372C>A (p.Pro458Thr) c.1264C>A (p.Pro422Thr) c.1417C>A (p.Pro473Thr) c.1369C>A (p.Pro457Thr) c.1252C>A (p.Pro418Thr) c.1234C>A (p.Pro412Thr) | |
| 3 | g.69965087C= | CA1373414331 | MITF | c.1354C= (p.Pro452=) c.1351C= (p.Pro451=) n.1576C= c.1327C= (p.Pro443=) c.*165C= (n.*165C=) c.1420C= (p.Pro474=) c.1099C= (p.Pro367=) c.1399C= (p.Pro467=) c.1402C= (p.Pro468=) c.1081C= (p.Pro361=) c.1246C= (p.Pro416=) c.*746C= (n.*746C=) c.913C= (p.Pro305=) c.1372C= (p.Pro458=) c.1264C= (p.Pro422=) c.1417C= (p.Pro473=) c.1369C= (p.Pro457=) c.1252C= (p.Pro418=) c.1234C= (p.Pro412=) | |
| 3 | g.69965087C>G | CA353559807 | MITF | c.1354C>G (p.Pro452Ala) c.1351C>G (p.Pro451Ala) n.1576C>G c.1327C>G (p.Pro443Ala) c.*165C>G (n.*165C>G) c.1420C>G (p.Pro474Ala) c.1099C>G (p.Pro367Ala) c.1399C>G (p.Pro467Ala) c.1402C>G (p.Pro468Ala) c.1081C>G (p.Pro361Ala) c.1246C>G (p.Pro416Ala) c.*746C>G (n.*746C>G) c.913C>G (p.Pro305Ala) c.1372C>G (p.Pro458Ala) c.1264C>G (p.Pro422Ala) c.1417C>G (p.Pro473Ala) c.1369C>G (p.Pro457Ala) c.1252C>G (p.Pro418Ala) c.1234C>G (p.Pro412Ala) | |
| 3 | g.69965087C>T | CA2490666 | MITF | c.1354C>T (p.Pro452Ser) c.1351C>T (p.Pro451Ser) n.1576C>T c.1327C>T (p.Pro443Ser) c.*165C>T (n.*165C>T) c.1420C>T (p.Pro474Ser) c.1099C>T (p.Pro367Ser) c.1399C>T (p.Pro467Ser) c.1402C>T (p.Pro468Ser) c.1081C>T (p.Pro361Ser) c.1246C>T (p.Pro416Ser) c.*746C>T (n.*746C>T) c.913C>T (p.Pro305Ser) c.1372C>T (p.Pro458Ser) c.1264C>T (p.Pro422Ser) c.1417C>T (p.Pro473Ser) c.1369C>T (p.Pro457Ser) c.1252C>T (p.Pro418Ser) c.1234C>T (p.Pro412Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965088C>A | CA353559808 | MITF | c.1355C>A (p.Pro452His) c.1352C>A (p.Pro451His) n.1577C>A c.1328C>A (p.Pro443His) c.*166C>A (n.*166C>A) c.1421C>A (p.Pro474His) c.1100C>A (p.Pro367His) c.1400C>A (p.Pro467His) c.1403C>A (p.Pro468His) c.1082C>A (p.Pro361His) c.1247C>A (p.Pro416His) c.*747C>A (n.*747C>A) c.914C>A (p.Pro305His) c.1373C>A (p.Pro458His) c.1265C>A (p.Pro422His) c.1418C>A (p.Pro473His) c.1370C>A (p.Pro457His) c.1253C>A (p.Pro418His) c.1235C>A (p.Pro412His) | dbSNP |
| 3 | g.69965088C>G | CA353559809 | MITF | c.1355C>G (p.Pro452Arg) c.1352C>G (p.Pro451Arg) n.1577C>G c.1328C>G (p.Pro443Arg) c.*166C>G (n.*166C>G) c.1421C>G (p.Pro474Arg) c.1100C>G (p.Pro367Arg) c.1400C>G (p.Pro467Arg) c.1403C>G (p.Pro468Arg) c.1082C>G (p.Pro361Arg) c.1247C>G (p.Pro416Arg) c.*747C>G (n.*747C>G) c.914C>G (p.Pro305Arg) c.1373C>G (p.Pro458Arg) c.1265C>G (p.Pro422Arg) c.1418C>G (p.Pro473Arg) c.1370C>G (p.Pro457Arg) c.1253C>G (p.Pro418Arg) c.1235C>G (p.Pro412Arg) | |
| 3 | g.69965088C>T | CA353559810 | MITF | c.1355C>T (p.Pro452Leu) c.1352C>T (p.Pro451Leu) n.1577C>T c.1328C>T (p.Pro443Leu) c.*166C>T (n.*166C>T) c.1421C>T (p.Pro474Leu) c.1100C>T (p.Pro367Leu) c.1400C>T (p.Pro467Leu) c.1403C>T (p.Pro468Leu) c.1082C>T (p.Pro361Leu) c.1247C>T (p.Pro416Leu) c.*747C>T (n.*747C>T) c.914C>T (p.Pro305Leu) c.1373C>T (p.Pro458Leu) c.1265C>T (p.Pro422Leu) c.1418C>T (p.Pro473Leu) c.1370C>T (p.Pro457Leu) c.1253C>T (p.Pro418Leu) c.1235C>T (p.Pro412Leu) | dbSNP |
| 3 | g.69965089C>A | CA434433783 | MITF | c.1356C>A (p.Pro452=) c.1353C>A (p.Pro451=) n.1578C>A c.1329C>A (p.Pro443=) c.*167C>A (n.*167C>A) c.1422C>A (p.Pro474=) c.1101C>A (p.Pro367=) c.1401C>A (p.Pro467=) c.1404C>A (p.Pro468=) c.1083C>A (p.Pro361=) c.1248C>A (p.Pro416=) c.*748C>A (n.*748C>A) c.915C>A (p.Pro305=) c.1374C>A (p.Pro458=) c.1266C>A (p.Pro422=) c.1419C>A (p.Pro473=) c.1371C>A (p.Pro457=) c.1254C>A (p.Pro418=) c.1236C>A (p.Pro412=) | |
| 3 | g.69965089C>G | CA434433784 | MITF | c.1356C>G (p.Pro452=) c.1353C>G (p.Pro451=) n.1578C>G c.1329C>G (p.Pro443=) c.*167C>G (n.*167C>G) c.1422C>G (p.Pro474=) c.1101C>G (p.Pro367=) c.1401C>G (p.Pro467=) c.1404C>G (p.Pro468=) c.1083C>G (p.Pro361=) c.1248C>G (p.Pro416=) c.*748C>G (n.*748C>G) c.915C>G (p.Pro305=) c.1374C>G (p.Pro458=) c.1266C>G (p.Pro422=) c.1419C>G (p.Pro473=) c.1371C>G (p.Pro457=) c.1254C>G (p.Pro418=) c.1236C>G (p.Pro412=) | |
| 3 | g.69965089C>T | CA434433785 | MITF | c.1356C>T (p.Pro452=) c.1353C>T (p.Pro451=) n.1578C>T c.1329C>T (p.Pro443=) c.*167C>T (n.*167C>T) c.1422C>T (p.Pro474=) c.1101C>T (p.Pro367=) c.1401C>T (p.Pro467=) c.1404C>T (p.Pro468=) c.1083C>T (p.Pro361=) c.1248C>T (p.Pro416=) c.*748C>T (n.*748C>T) c.915C>T (p.Pro305=) c.1374C>T (p.Pro458=) c.1266C>T (p.Pro422=) c.1419C>T (p.Pro473=) c.1371C>T (p.Pro457=) c.1254C>T (p.Pro418=) c.1236C>T (p.Pro412=) | gnomAD v4 |
| 3 | g.69965090A= | CA1373414333 | MITF | c.1357A= (p.Thr453=) c.1354A= (p.Thr452=) n.1579A= c.1330A= (p.Thr444=) c.*168A= (n.*168A=) c.1423A= (p.Thr475=) c.1102A= (p.Thr368=) c.1402A= (p.Thr468=) c.1405A= (p.Thr469=) c.1084A= (p.Thr362=) c.1249A= (p.Thr417=) c.*749A= (n.*749A=) c.916A= (p.Thr306=) c.1375A= (p.Thr459=) c.1267A= (p.Thr423=) c.1420A= (p.Thr474=) c.1372A= (p.Thr458=) c.1255A= (p.Thr419=) c.1237A= (p.Thr413=) | |
| 3 | g.69965090A>C | CA353559811 | MITF | c.1357A>C (p.Thr453Pro) c.1354A>C (p.Thr452Pro) n.1579A>C c.1330A>C (p.Thr444Pro) c.*168A>C (n.*168A>C) c.1423A>C (p.Thr475Pro) c.1102A>C (p.Thr368Pro) c.1402A>C (p.Thr468Pro) c.1405A>C (p.Thr469Pro) c.1084A>C (p.Thr362Pro) c.1249A>C (p.Thr417Pro) c.*749A>C (n.*749A>C) c.916A>C (p.Thr306Pro) c.1375A>C (p.Thr459Pro) c.1267A>C (p.Thr423Pro) c.1420A>C (p.Thr474Pro) c.1372A>C (p.Thr458Pro) c.1255A>C (p.Thr419Pro) c.1237A>C (p.Thr413Pro) | dbSNP |
| 3 | g.69965090A>G | CA353559813 | MITF | c.1357A>G (p.Thr453Ala) c.1354A>G (p.Thr452Ala) n.1579A>G c.1330A>G (p.Thr444Ala) c.*168A>G (n.*168A>G) c.1423A>G (p.Thr475Ala) c.1102A>G (p.Thr368Ala) c.1402A>G (p.Thr468Ala) c.1405A>G (p.Thr469Ala) c.1084A>G (p.Thr362Ala) c.1249A>G (p.Thr417Ala) c.*749A>G (n.*749A>G) c.916A>G (p.Thr306Ala) c.1375A>G (p.Thr459Ala) c.1267A>G (p.Thr423Ala) c.1420A>G (p.Thr474Ala) c.1372A>G (p.Thr458Ala) c.1255A>G (p.Thr419Ala) c.1237A>G (p.Thr413Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965090A>T | CA353559812 | MITF | c.1357A>T (p.Thr453Ser) c.1354A>T (p.Thr452Ser) n.1579A>T c.1330A>T (p.Thr444Ser) c.*168A>T (n.*168A>T) c.1423A>T (p.Thr475Ser) c.1102A>T (p.Thr368Ser) c.1402A>T (p.Thr468Ser) c.1405A>T (p.Thr469Ser) c.1084A>T (p.Thr362Ser) c.1249A>T (p.Thr417Ser) c.*749A>T (n.*749A>T) c.916A>T (p.Thr306Ser) c.1375A>T (p.Thr459Ser) c.1267A>T (p.Thr423Ser) c.1420A>T (p.Thr474Ser) c.1372A>T (p.Thr458Ser) c.1255A>T (p.Thr419Ser) c.1237A>T (p.Thr413Ser) | |
| 3 | g.69965091C>A | CA353559814 | MITF | c.1358C>A (p.Thr453Lys) c.1355C>A (p.Thr452Lys) n.1580C>A c.1331C>A (p.Thr444Lys) c.*169C>A (n.*169C>A) c.1424C>A (p.Thr475Lys) c.1103C>A (p.Thr368Lys) c.1403C>A (p.Thr468Lys) c.1406C>A (p.Thr469Lys) c.1085C>A (p.Thr362Lys) c.1250C>A (p.Thr417Lys) c.*750C>A (n.*750C>A) c.917C>A (p.Thr306Lys) c.1376C>A (p.Thr459Lys) c.1268C>A (p.Thr423Lys) c.1421C>A (p.Thr474Lys) c.1373C>A (p.Thr458Lys) c.1256C>A (p.Thr419Lys) c.1238C>A (p.Thr413Lys) | gnomAD v4 |
| 3 | g.69965091C>G | CA353559815 | MITF | c.1358C>G (p.Thr453Arg) c.1355C>G (p.Thr452Arg) n.1580C>G c.1331C>G (p.Thr444Arg) c.*169C>G (n.*169C>G) c.1424C>G (p.Thr475Arg) c.1103C>G (p.Thr368Arg) c.1403C>G (p.Thr468Arg) c.1406C>G (p.Thr469Arg) c.1085C>G (p.Thr362Arg) c.1250C>G (p.Thr417Arg) c.*750C>G (n.*750C>G) c.917C>G (p.Thr306Arg) c.1376C>G (p.Thr459Arg) c.1268C>G (p.Thr423Arg) c.1421C>G (p.Thr474Arg) c.1373C>G (p.Thr458Arg) c.1256C>G (p.Thr419Arg) c.1238C>G (p.Thr413Arg) | |
| 3 | g.69965091C>T | CA353559816 | MITF | c.1358C>T (p.Thr453Ile) c.1355C>T (p.Thr452Ile) n.1580C>T c.1331C>T (p.Thr444Ile) c.*169C>T (n.*169C>T) c.1424C>T (p.Thr475Ile) c.1103C>T (p.Thr368Ile) c.1403C>T (p.Thr468Ile) c.1406C>T (p.Thr469Ile) c.1085C>T (p.Thr362Ile) c.1250C>T (p.Thr417Ile) c.*750C>T (n.*750C>T) c.917C>T (p.Thr306Ile) c.1376C>T (p.Thr459Ile) c.1268C>T (p.Thr423Ile) c.1421C>T (p.Thr474Ile) c.1373C>T (p.Thr458Ile) c.1256C>T (p.Thr419Ile) c.1238C>T (p.Thr413Ile) | gnomAD v4 |
| 3 | g.69965092A>C | CA434433786 | MITF | c.1359A>C (p.Thr453=) c.1356A>C (p.Thr452=) n.1581A>C c.1332A>C (p.Thr444=) c.*170A>C (n.*170A>C) c.1425A>C (p.Thr475=) c.1104A>C (p.Thr368=) c.1404A>C (p.Thr468=) c.1407A>C (p.Thr469=) c.1086A>C (p.Thr362=) c.1251A>C (p.Thr417=) c.*751A>C (n.*751A>C) c.918A>C (p.Thr306=) c.1377A>C (p.Thr459=) c.1269A>C (p.Thr423=) c.1422A>C (p.Thr474=) c.1374A>C (p.Thr458=) c.1257A>C (p.Thr419=) c.1239A>C (p.Thr413=) | |
| 3 | g.69965092A>G | CA434433787 | MITF | c.1359A>G (p.Thr453=) c.1356A>G (p.Thr452=) n.1581A>G c.1332A>G (p.Thr444=) c.*170A>G (n.*170A>G) c.1425A>G (p.Thr475=) c.1104A>G (p.Thr368=) c.1404A>G (p.Thr468=) c.1407A>G (p.Thr469=) c.1086A>G (p.Thr362=) c.1251A>G (p.Thr417=) c.*751A>G (n.*751A>G) c.918A>G (p.Thr306=) c.1377A>G (p.Thr459=) c.1269A>G (p.Thr423=) c.1422A>G (p.Thr474=) c.1374A>G (p.Thr458=) c.1257A>G (p.Thr419=) c.1239A>G (p.Thr413=) | ClinVar gnomAD v4 |
| 3 | g.69965092A>T | CA434433788 | MITF | c.1359A>T (p.Thr453=) c.1356A>T (p.Thr452=) n.1581A>T c.1332A>T (p.Thr444=) c.*170A>T (n.*170A>T) c.1425A>T (p.Thr475=) c.1104A>T (p.Thr368=) c.1404A>T (p.Thr468=) c.1407A>T (p.Thr469=) c.1086A>T (p.Thr362=) c.1251A>T (p.Thr417=) c.*751A>T (n.*751A>T) c.918A>T (p.Thr306=) c.1377A>T (p.Thr459=) c.1269A>T (p.Thr423=) c.1422A>T (p.Thr474=) c.1374A>T (p.Thr458=) c.1257A>T (p.Thr419=) c.1239A>T (p.Thr413=) | dbSNP |
| 3 | g.69965096dup | CA434433789 | MITF | c.1363dup (p.Met455AsnfsTer21) c.1360dup (p.Met454AsnfsTer21) n.1585dup c.1336dup (p.Met446AsnfsTer21) c.*174dup (n.*174dup) c.1429dup (p.Met477AsnfsTer21) c.1108dup (p.Met370AsnfsTer21) c.1408dup (p.Met470AsnfsTer21) c.1411dup (p.Met471AsnfsTer21) c.1090dup (p.Met364AsnfsTer21) c.1255dup (p.Met419AsnfsTer21) c.*755dup (n.*755dup) c.922dup (p.Met308AsnfsTer21) c.1381dup (p.Met461AsnfsTer21) c.1273dup (p.Met425AsnfsTer21) c.1426dup (p.Met476AsnfsTer21) c.1378dup (p.Met460AsnfsTer21) c.1261dup (p.Met421AsnfsTer21) c.1243dup (p.Met415AsnfsTer21) | COSMIC COSMIC |
| 3 | g.69965093A= | CA1373414335 | MITF | c.1360A= (p.Lys454=) c.1357A= (p.Lys453=) n.1582A= c.1333A= (p.Lys445=) c.*171A= (n.*171A=) c.1426A= (p.Lys476=) c.1105A= (p.Lys369=) c.1405A= (p.Lys469=) c.1408A= (p.Lys470=) c.1087A= (p.Lys363=) c.1252A= (p.Lys418=) c.*752A= (n.*752A=) c.919A= (p.Lys307=) c.1378A= (p.Lys460=) c.1270A= (p.Lys424=) c.1423A= (p.Lys475=) c.1375A= (p.Lys459=) c.1258A= (p.Lys420=) c.1240A= (p.Lys414=) | |
| 3 | g.69965093A>C | CA353559817 | MITF | c.1360A>C (p.Lys454Gln) c.1357A>C (p.Lys453Gln) n.1582A>C c.1333A>C (p.Lys445Gln) c.*171A>C (n.*171A>C) c.1426A>C (p.Lys476Gln) c.1105A>C (p.Lys369Gln) c.1405A>C (p.Lys469Gln) c.1408A>C (p.Lys470Gln) c.1087A>C (p.Lys363Gln) c.1252A>C (p.Lys418Gln) c.*752A>C (n.*752A>C) c.919A>C (p.Lys307Gln) c.1378A>C (p.Lys460Gln) c.1270A>C (p.Lys424Gln) c.1423A>C (p.Lys475Gln) c.1375A>C (p.Lys459Gln) c.1258A>C (p.Lys420Gln) c.1240A>C (p.Lys414Gln) | |
| 3 | g.69965093A>G | CA353559818 | MITF | c.1360A>G (p.Lys454Glu) c.1357A>G (p.Lys453Glu) n.1582A>G c.1333A>G (p.Lys445Glu) c.*171A>G (n.*171A>G) c.1426A>G (p.Lys476Glu) c.1105A>G (p.Lys369Glu) c.1405A>G (p.Lys469Glu) c.1408A>G (p.Lys470Glu) c.1087A>G (p.Lys363Glu) c.1252A>G (p.Lys418Glu) c.*752A>G (n.*752A>G) c.919A>G (p.Lys307Glu) c.1378A>G (p.Lys460Glu) c.1270A>G (p.Lys424Glu) c.1423A>G (p.Lys475Glu) c.1375A>G (p.Lys459Glu) c.1258A>G (p.Lys420Glu) c.1240A>G (p.Lys414Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965093A>T | CA353559819 | MITF | c.1360A>T (p.Lys454Ter) c.1357A>T (p.Lys453Ter) n.1582A>T c.1333A>T (p.Lys445Ter) c.*171A>T (n.*171A>T) c.1426A>T (p.Lys476Ter) c.1105A>T (p.Lys369Ter) c.1405A>T (p.Lys469Ter) c.1408A>T (p.Lys470Ter) c.1087A>T (p.Lys363Ter) c.1252A>T (p.Lys418Ter) c.*752A>T (n.*752A>T) c.919A>T (p.Lys307Ter) c.1378A>T (p.Lys460Ter) c.1270A>T (p.Lys424Ter) c.1423A>T (p.Lys475Ter) c.1375A>T (p.Lys459Ter) c.1258A>T (p.Lys420Ter) c.1240A>T (p.Lys414Ter) | |
| 3 | g.69965094A>C | CA353559820 | MITF | c.1361A>C (p.Lys454Thr) c.1358A>C (p.Lys453Thr) n.1583A>C c.1334A>C (p.Lys445Thr) c.*172A>C (n.*172A>C) c.1427A>C (p.Lys476Thr) c.1106A>C (p.Lys369Thr) c.1406A>C (p.Lys469Thr) c.1409A>C (p.Lys470Thr) c.1088A>C (p.Lys363Thr) c.1253A>C (p.Lys418Thr) c.*753A>C (n.*753A>C) c.920A>C (p.Lys307Thr) c.1379A>C (p.Lys460Thr) c.1271A>C (p.Lys424Thr) c.1424A>C (p.Lys475Thr) c.1376A>C (p.Lys459Thr) c.1259A>C (p.Lys420Thr) c.1241A>C (p.Lys414Thr) | |
| 3 | g.69965094A>G | CA353559821 | MITF | c.1361A>G (p.Lys454Arg) c.1358A>G (p.Lys453Arg) n.1583A>G c.1334A>G (p.Lys445Arg) c.*172A>G (n.*172A>G) c.1427A>G (p.Lys476Arg) c.1106A>G (p.Lys369Arg) c.1406A>G (p.Lys469Arg) c.1409A>G (p.Lys470Arg) c.1088A>G (p.Lys363Arg) c.1253A>G (p.Lys418Arg) c.*753A>G (n.*753A>G) c.920A>G (p.Lys307Arg) c.1379A>G (p.Lys460Arg) c.1271A>G (p.Lys424Arg) c.1424A>G (p.Lys475Arg) c.1376A>G (p.Lys459Arg) c.1259A>G (p.Lys420Arg) c.1241A>G (p.Lys414Arg) | |
| 3 | g.69965094A>T | CA353559822 | MITF | c.1361A>T (p.Lys454Ile) c.1358A>T (p.Lys453Ile) n.1583A>T c.1334A>T (p.Lys445Ile) c.*172A>T (n.*172A>T) c.1427A>T (p.Lys476Ile) c.1106A>T (p.Lys369Ile) c.1406A>T (p.Lys469Ile) c.1409A>T (p.Lys470Ile) c.1088A>T (p.Lys363Ile) c.1253A>T (p.Lys418Ile) c.*753A>T (n.*753A>T) c.920A>T (p.Lys307Ile) c.1379A>T (p.Lys460Ile) c.1271A>T (p.Lys424Ile) c.1424A>T (p.Lys475Ile) c.1376A>T (p.Lys459Ile) c.1259A>T (p.Lys420Ile) c.1241A>T (p.Lys414Ile) | |
| 3 | g.69965095A>C | CA353559823 | MITF | c.1362A>C (p.Lys454Asn) c.1359A>C (p.Lys453Asn) n.1584A>C c.1335A>C (p.Lys445Asn) c.*173A>C (n.*173A>C) c.1428A>C (p.Lys476Asn) c.1107A>C (p.Lys369Asn) c.1407A>C (p.Lys469Asn) c.1410A>C (p.Lys470Asn) c.1089A>C (p.Lys363Asn) c.1254A>C (p.Lys418Asn) c.*754A>C (n.*754A>C) c.921A>C (p.Lys307Asn) c.1380A>C (p.Lys460Asn) c.1272A>C (p.Lys424Asn) c.1425A>C (p.Lys475Asn) c.1377A>C (p.Lys459Asn) c.1260A>C (p.Lys420Asn) c.1242A>C (p.Lys414Asn) | |
| 3 | g.69965095A>G | CA434433790 | MITF | c.1362A>G (p.Lys454=) c.1359A>G (p.Lys453=) n.1584A>G c.1335A>G (p.Lys445=) c.*173A>G (n.*173A>G) c.1428A>G (p.Lys476=) c.1107A>G (p.Lys369=) c.1407A>G (p.Lys469=) c.1410A>G (p.Lys470=) c.1089A>G (p.Lys363=) c.1254A>G (p.Lys418=) c.*754A>G (n.*754A>G) c.921A>G (p.Lys307=) c.1380A>G (p.Lys460=) c.1272A>G (p.Lys424=) c.1425A>G (p.Lys475=) c.1377A>G (p.Lys459=) c.1260A>G (p.Lys420=) c.1242A>G (p.Lys414=) | gnomAD v4 |
| 3 | g.69965095A>T | CA353559824 | MITF | c.1362A>T (p.Lys454Asn) c.1359A>T (p.Lys453Asn) n.1584A>T c.1335A>T (p.Lys445Asn) c.*173A>T (n.*173A>T) c.1428A>T (p.Lys476Asn) c.1107A>T (p.Lys369Asn) c.1407A>T (p.Lys469Asn) c.1410A>T (p.Lys470Asn) c.1089A>T (p.Lys363Asn) c.1254A>T (p.Lys418Asn) c.*754A>T (n.*754A>T) c.921A>T (p.Lys307Asn) c.1380A>T (p.Lys460Asn) c.1272A>T (p.Lys424Asn) c.1425A>T (p.Lys475Asn) c.1377A>T (p.Lys459Asn) c.1260A>T (p.Lys420Asn) c.1242A>T (p.Lys414Asn) | |
| 3 | g.69965096A>C | CA353559826 | MITF | c.1363A>C (p.Met455Leu) c.1360A>C (p.Met454Leu) n.1585A>C c.1336A>C (p.Met446Leu) c.*174A>C (n.*174A>C) c.1429A>C (p.Met477Leu) c.1108A>C (p.Met370Leu) c.1408A>C (p.Met470Leu) c.1411A>C (p.Met471Leu) c.1090A>C (p.Met364Leu) c.1255A>C (p.Met419Leu) c.*755A>C (n.*755A>C) c.922A>C (p.Met308Leu) c.1381A>C (p.Met461Leu) c.1273A>C (p.Met425Leu) c.1426A>C (p.Met476Leu) c.1378A>C (p.Met460Leu) c.1261A>C (p.Met421Leu) c.1243A>C (p.Met415Leu) | |
| 3 | g.69965096A>G | CA353559827 | MITF | c.1363A>G (p.Met455Val) c.1360A>G (p.Met454Val) n.1585A>G c.1336A>G (p.Met446Val) c.*174A>G (n.*174A>G) c.1429A>G (p.Met477Val) c.1108A>G (p.Met370Val) c.1408A>G (p.Met470Val) c.1411A>G (p.Met471Val) c.1090A>G (p.Met364Val) c.1255A>G (p.Met419Val) c.*755A>G (n.*755A>G) c.922A>G (p.Met308Val) c.1381A>G (p.Met461Val) c.1273A>G (p.Met425Val) c.1426A>G (p.Met476Val) c.1378A>G (p.Met460Val) c.1261A>G (p.Met421Val) c.1243A>G (p.Met415Val) | |
| 3 | g.69965096A>T | CA353559825 | MITF | c.1363A>T (p.Met455Leu) c.1360A>T (p.Met454Leu) n.1585A>T c.1336A>T (p.Met446Leu) c.*174A>T (n.*174A>T) c.1429A>T (p.Met477Leu) c.1108A>T (p.Met370Leu) c.1408A>T (p.Met470Leu) c.1411A>T (p.Met471Leu) c.1090A>T (p.Met364Leu) c.1255A>T (p.Met419Leu) c.*755A>T (n.*755A>T) c.922A>T (p.Met308Leu) c.1381A>T (p.Met461Leu) c.1273A>T (p.Met425Leu) c.1426A>T (p.Met476Leu) c.1378A>T (p.Met460Leu) c.1261A>T (p.Met421Leu) c.1243A>T (p.Met415Leu) | |
| 3 | g.69965097T>A | CA353559830 | MITF | c.1364T>A (p.Met455Lys) c.1361T>A (p.Met454Lys) n.1586T>A c.1337T>A (p.Met446Lys) c.*175T>A (n.*175T>A) c.1430T>A (p.Met477Lys) c.1109T>A (p.Met370Lys) c.1409T>A (p.Met470Lys) c.1412T>A (p.Met471Lys) c.1091T>A (p.Met364Lys) c.1256T>A (p.Met419Lys) c.*756T>A (n.*756T>A) c.923T>A (p.Met308Lys) c.1382T>A (p.Met461Lys) c.1274T>A (p.Met425Lys) c.1427T>A (p.Met476Lys) c.1379T>A (p.Met460Lys) c.1262T>A (p.Met421Lys) c.1244T>A (p.Met415Lys) | |
| 3 | g.69965097T>C | CA353559828 | MITF | c.1364T>C (p.Met455Thr) c.1361T>C (p.Met454Thr) n.1586T>C c.1337T>C (p.Met446Thr) c.*175T>C (n.*175T>C) c.1430T>C (p.Met477Thr) c.1109T>C (p.Met370Thr) c.1409T>C (p.Met470Thr) c.1412T>C (p.Met471Thr) c.1091T>C (p.Met364Thr) c.1256T>C (p.Met419Thr) c.*756T>C (n.*756T>C) c.923T>C (p.Met308Thr) c.1382T>C (p.Met461Thr) c.1274T>C (p.Met425Thr) c.1427T>C (p.Met476Thr) c.1379T>C (p.Met460Thr) c.1262T>C (p.Met421Thr) c.1244T>C (p.Met415Thr) | |
| 3 | g.69965097T>G | CA353559829 | MITF | c.1364T>G (p.Met455Arg) c.1361T>G (p.Met454Arg) n.1586T>G c.1337T>G (p.Met446Arg) c.*175T>G (n.*175T>G) c.1430T>G (p.Met477Arg) c.1109T>G (p.Met370Arg) c.1409T>G (p.Met470Arg) c.1412T>G (p.Met471Arg) c.1091T>G (p.Met364Arg) c.1256T>G (p.Met419Arg) c.*756T>G (n.*756T>G) c.923T>G (p.Met308Arg) c.1382T>G (p.Met461Arg) c.1274T>G (p.Met425Arg) c.1427T>G (p.Met476Arg) c.1379T>G (p.Met460Arg) c.1262T>G (p.Met421Arg) c.1244T>G (p.Met415Arg) | |
| 3 | g.69965098G>A | CA353559831 | MITF | c.1365G>A (p.Met455Ile) c.1362G>A (p.Met454Ile) n.1587G>A c.1338G>A (p.Met446Ile) c.*176G>A (n.*176G>A) c.1431G>A (p.Met477Ile) c.1110G>A (p.Met370Ile) c.1410G>A (p.Met470Ile) c.1413G>A (p.Met471Ile) c.1092G>A (p.Met364Ile) c.1257G>A (p.Met419Ile) c.*757G>A (n.*757G>A) c.924G>A (p.Met308Ile) c.1383G>A (p.Met461Ile) c.1275G>A (p.Met425Ile) c.1428G>A (p.Met476Ile) c.1380G>A (p.Met460Ile) c.1263G>A (p.Met421Ile) c.1245G>A (p.Met415Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69965098G>C | CA353559832 | MITF | c.1365G>C (p.Met455Ile) c.1362G>C (p.Met454Ile) n.1587G>C c.1338G>C (p.Met446Ile) c.*176G>C (n.*176G>C) c.1431G>C (p.Met477Ile) c.1110G>C (p.Met370Ile) c.1410G>C (p.Met470Ile) c.1413G>C (p.Met471Ile) c.1092G>C (p.Met364Ile) c.1257G>C (p.Met419Ile) c.*757G>C (n.*757G>C) c.924G>C (p.Met308Ile) c.1383G>C (p.Met461Ile) c.1275G>C (p.Met425Ile) c.1428G>C (p.Met476Ile) c.1380G>C (p.Met460Ile) c.1263G>C (p.Met421Ile) c.1245G>C (p.Met415Ile) | |
| 3 | g.69965098G= | CA1373414338 | MITF | c.1365G= (p.Met455=) c.1362G= (p.Met454=) n.1587G= c.1338G= (p.Met446=) c.*176G= (n.*176G=) c.1431G= (p.Met477=) c.1110G= (p.Met370=) c.1410G= (p.Met470=) c.1413G= (p.Met471=) c.1092G= (p.Met364=) c.1257G= (p.Met419=) c.*757G= (n.*757G=) c.924G= (p.Met308=) c.1383G= (p.Met461=) c.1275G= (p.Met425=) c.1428G= (p.Met476=) c.1380G= (p.Met460=) c.1263G= (p.Met421=) c.1245G= (p.Met415=) | |
| 3 | g.69965098G>T | CA353559833 | MITF | c.1365G>T (p.Met455Ile) c.1362G>T (p.Met454Ile) n.1587G>T c.1338G>T (p.Met446Ile) c.*176G>T (n.*176G>T) c.1431G>T (p.Met477Ile) c.1110G>T (p.Met370Ile) c.1410G>T (p.Met470Ile) c.1413G>T (p.Met471Ile) c.1092G>T (p.Met364Ile) c.1257G>T (p.Met419Ile) c.*757G>T (n.*757G>T) c.924G>T (p.Met308Ile) c.1383G>T (p.Met461Ile) c.1275G>T (p.Met425Ile) c.1428G>T (p.Met476Ile) c.1380G>T (p.Met460Ile) c.1263G>T (p.Met421Ile) c.1245G>T (p.Met415Ile) | |
| 3 | g.69965099G>A | CA353559834 | MITF | c.1366G>A (p.Gly456Arg) c.1363G>A (p.Gly455Arg) n.1588G>A c.1339G>A (p.Gly447Arg) c.*177G>A (n.*177G>A) c.1432G>A (p.Gly478Arg) c.1111G>A (p.Gly371Arg) c.1411G>A (p.Gly471Arg) c.1414G>A (p.Gly472Arg) c.1093G>A (p.Gly365Arg) c.1258G>A (p.Gly420Arg) c.*758G>A (n.*758G>A) c.925G>A (p.Gly309Arg) c.1384G>A (p.Gly462Arg) c.1276G>A (p.Gly426Arg) c.1429G>A (p.Gly477Arg) c.1381G>A (p.Gly461Arg) c.1264G>A (p.Gly422Arg) c.1246G>A (p.Gly416Arg) | gnomAD v4 |
| 3 | g.69965099G>C | CA353559835 | MITF | c.1366G>C (p.Gly456Arg) c.1363G>C (p.Gly455Arg) n.1588G>C c.1339G>C (p.Gly447Arg) c.*177G>C (n.*177G>C) c.1432G>C (p.Gly478Arg) c.1111G>C (p.Gly371Arg) c.1411G>C (p.Gly471Arg) c.1414G>C (p.Gly472Arg) c.1093G>C (p.Gly365Arg) c.1258G>C (p.Gly420Arg) c.*758G>C (n.*758G>C) c.925G>C (p.Gly309Arg) c.1384G>C (p.Gly462Arg) c.1276G>C (p.Gly426Arg) c.1429G>C (p.Gly477Arg) c.1381G>C (p.Gly461Arg) c.1264G>C (p.Gly422Arg) c.1246G>C (p.Gly416Arg) | dbSNP gnomAD v2 |
| 3 | g.69965099G= | CA1373414340 | MITF | c.1366G= (p.Gly456=) c.1363G= (p.Gly455=) n.1588G= c.1339G= (p.Gly447=) c.*177G= (n.*177G=) c.1432G= (p.Gly478=) c.1111G= (p.Gly371=) c.1411G= (p.Gly471=) c.1414G= (p.Gly472=) c.1093G= (p.Gly365=) c.1258G= (p.Gly420=) c.*758G= (n.*758G=) c.925G= (p.Gly309=) c.1384G= (p.Gly462=) c.1276G= (p.Gly426=) c.1429G= (p.Gly477=) c.1381G= (p.Gly461=) c.1264G= (p.Gly422=) c.1246G= (p.Gly416=) | |
| 3 | g.69965099G>T | CA353559836 | MITF | c.1366G>T (p.Gly456Ter) c.1363G>T (p.Gly455Ter) n.1588G>T c.1339G>T (p.Gly447Ter) c.*177G>T (n.*177G>T) c.1432G>T (p.Gly478Ter) c.1111G>T (p.Gly371Ter) c.1411G>T (p.Gly471Ter) c.1414G>T (p.Gly472Ter) c.1093G>T (p.Gly365Ter) c.1258G>T (p.Gly420Ter) c.*758G>T (n.*758G>T) c.925G>T (p.Gly309Ter) c.1384G>T (p.Gly462Ter) c.1276G>T (p.Gly426Ter) c.1429G>T (p.Gly477Ter) c.1381G>T (p.Gly461Ter) c.1264G>T (p.Gly422Ter) c.1246G>T (p.Gly416Ter) | |
| 3 | g.69965100G>A | CA2490667 | MITF | c.1367G>A (p.Gly456Glu) c.1364G>A (p.Gly455Glu) n.1589G>A c.1340G>A (p.Gly447Glu) c.*178G>A (n.*178G>A) c.1433G>A (p.Gly478Glu) c.1112G>A (p.Gly371Glu) c.1412G>A (p.Gly471Glu) c.1415G>A (p.Gly472Glu) c.1094G>A (p.Gly365Glu) c.1259G>A (p.Gly420Glu) c.*759G>A (n.*759G>A) c.926G>A (p.Gly309Glu) c.1385G>A (p.Gly462Glu) c.1277G>A (p.Gly426Glu) c.1430G>A (p.Gly477Glu) c.1382G>A (p.Gly461Glu) c.1265G>A (p.Gly422Glu) c.1247G>A (p.Gly416Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.69965100G>C | CA2490668 | MITF | c.1367G>C (p.Gly456Ala) c.1364G>C (p.Gly455Ala) n.1589G>C c.1340G>C (p.Gly447Ala) c.*178G>C (n.*178G>C) c.1433G>C (p.Gly478Ala) c.1112G>C (p.Gly371Ala) c.1412G>C (p.Gly471Ala) c.1415G>C (p.Gly472Ala) c.1094G>C (p.Gly365Ala) c.1259G>C (p.Gly420Ala) c.*759G>C (n.*759G>C) c.926G>C (p.Gly309Ala) c.1385G>C (p.Gly462Ala) c.1277G>C (p.Gly426Ala) c.1430G>C (p.Gly477Ala) c.1382G>C (p.Gly461Ala) c.1265G>C (p.Gly422Ala) c.1247G>C (p.Gly416Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965100G= | CA1373414343 | MITF | c.1367G= (p.Gly456=) c.1364G= (p.Gly455=) n.1589G= c.1340G= (p.Gly447=) c.*178G= (n.*178G=) c.1433G= (p.Gly478=) c.1112G= (p.Gly371=) c.1412G= (p.Gly471=) c.1415G= (p.Gly472=) c.1094G= (p.Gly365=) c.1259G= (p.Gly420=) c.*759G= (n.*759G=) c.926G= (p.Gly309=) c.1385G= (p.Gly462=) c.1277G= (p.Gly426=) c.1430G= (p.Gly477=) c.1382G= (p.Gly461=) c.1265G= (p.Gly422=) c.1247G= (p.Gly416=) | |
| 3 | g.69965100G>T | CA353559837 | MITF | c.1367G>T (p.Gly456Val) c.1364G>T (p.Gly455Val) n.1589G>T c.1340G>T (p.Gly447Val) c.*178G>T (n.*178G>T) c.1433G>T (p.Gly478Val) c.1112G>T (p.Gly371Val) c.1412G>T (p.Gly471Val) c.1415G>T (p.Gly472Val) c.1094G>T (p.Gly365Val) c.1259G>T (p.Gly420Val) c.*759G>T (n.*759G>T) c.926G>T (p.Gly309Val) c.1385G>T (p.Gly462Val) c.1277G>T (p.Gly426Val) c.1430G>T (p.Gly477Val) c.1382G>T (p.Gly461Val) c.1265G>T (p.Gly422Val) c.1247G>T (p.Gly416Val) | gnomAD v4 |
| 3 | g.69965101A>C | CA434433791 | MITF | c.1368A>C (p.Gly456=) c.1365A>C (p.Gly455=) n.1590A>C c.1341A>C (p.Gly447=) c.*179A>C (n.*179A>C) c.1434A>C (p.Gly478=) c.1113A>C (p.Gly371=) c.1413A>C (p.Gly471=) c.1416A>C (p.Gly472=) c.1095A>C (p.Gly365=) c.1260A>C (p.Gly420=) c.*760A>C (n.*760A>C) c.927A>C (p.Gly309=) c.1386A>C (p.Gly462=) c.1278A>C (p.Gly426=) c.1431A>C (p.Gly477=) c.1383A>C (p.Gly461=) c.1266A>C (p.Gly422=) c.1248A>C (p.Gly416=) | |
| 3 | g.69965101A>G | CA434433793 | MITF | c.1368A>G (p.Gly456=) c.1365A>G (p.Gly455=) n.1590A>G c.1341A>G (p.Gly447=) c.*179A>G (n.*179A>G) c.1434A>G (p.Gly478=) c.1113A>G (p.Gly371=) c.1413A>G (p.Gly471=) c.1416A>G (p.Gly472=) c.1095A>G (p.Gly365=) c.1260A>G (p.Gly420=) c.*760A>G (n.*760A>G) c.927A>G (p.Gly309=) c.1386A>G (p.Gly462=) c.1278A>G (p.Gly426=) c.1431A>G (p.Gly477=) c.1383A>G (p.Gly461=) c.1266A>G (p.Gly422=) c.1248A>G (p.Gly416=) | gnomAD v4 |
| 3 | g.69965101A>T | CA434433792 | MITF | c.1368A>T (p.Gly456=) c.1365A>T (p.Gly455=) n.1590A>T c.1341A>T (p.Gly447=) c.*179A>T (n.*179A>T) c.1434A>T (p.Gly478=) c.1113A>T (p.Gly371=) c.1413A>T (p.Gly471=) c.1416A>T (p.Gly472=) c.1095A>T (p.Gly365=) c.1260A>T (p.Gly420=) c.*760A>T (n.*760A>T) c.927A>T (p.Gly309=) c.1386A>T (p.Gly462=) c.1278A>T (p.Gly426=) c.1431A>T (p.Gly477=) c.1383A>T (p.Gly461=) c.1266A>T (p.Gly422=) c.1248A>T (p.Gly416=) | |
| 3 | g.69965102T>A | CA353559840 | MITF | c.1369T>A (p.Ser457Thr) c.1366T>A (p.Ser456Thr) n.1591T>A c.1342T>A (p.Ser448Thr) c.*180T>A (n.*180T>A) c.1435T>A (p.Ser479Thr) c.1114T>A (p.Ser372Thr) c.1414T>A (p.Ser472Thr) c.1417T>A (p.Ser473Thr) c.1096T>A (p.Ser366Thr) c.1261T>A (p.Ser421Thr) c.*761T>A (n.*761T>A) c.928T>A (p.Ser310Thr) c.1387T>A (p.Ser463Thr) c.1279T>A (p.Ser427Thr) c.1432T>A (p.Ser478Thr) c.1384T>A (p.Ser462Thr) c.1267T>A (p.Ser423Thr) c.1249T>A (p.Ser417Thr) | gnomAD v4 |
| 3 | g.69965102T>C | CA353559839 | MITF | c.1369T>C (p.Ser457Pro) c.1366T>C (p.Ser456Pro) n.1591T>C c.1342T>C (p.Ser448Pro) c.*180T>C (n.*180T>C) c.1435T>C (p.Ser479Pro) c.1114T>C (p.Ser372Pro) c.1414T>C (p.Ser472Pro) c.1417T>C (p.Ser473Pro) c.1096T>C (p.Ser366Pro) c.1261T>C (p.Ser421Pro) c.*761T>C (n.*761T>C) c.928T>C (p.Ser310Pro) c.1387T>C (p.Ser463Pro) c.1279T>C (p.Ser427Pro) c.1432T>C (p.Ser478Pro) c.1384T>C (p.Ser462Pro) c.1267T>C (p.Ser423Pro) c.1249T>C (p.Ser417Pro) | |
| 3 | g.69965102T>G | CA353559838 | MITF | c.1369T>G (p.Ser457Ala) c.1366T>G (p.Ser456Ala) n.1591T>G c.1342T>G (p.Ser448Ala) c.*180T>G (n.*180T>G) c.1435T>G (p.Ser479Ala) c.1114T>G (p.Ser372Ala) c.1414T>G (p.Ser472Ala) c.1417T>G (p.Ser473Ala) c.1096T>G (p.Ser366Ala) c.1261T>G (p.Ser421Ala) c.*761T>G (n.*761T>G) c.928T>G (p.Ser310Ala) c.1387T>G (p.Ser463Ala) c.1279T>G (p.Ser427Ala) c.1432T>G (p.Ser478Ala) c.1384T>G (p.Ser462Ala) c.1267T>G (p.Ser423Ala) c.1249T>G (p.Ser417Ala) | |
| 3 | g.69965103C>A | CA353559841 | MITF | c.1370C>A (p.Ser457Tyr) c.1367C>A (p.Ser456Tyr) n.1592C>A c.1343C>A (p.Ser448Tyr) c.*181C>A (n.*181C>A) c.1436C>A (p.Ser479Tyr) c.1115C>A (p.Ser372Tyr) c.1415C>A (p.Ser472Tyr) c.1418C>A (p.Ser473Tyr) c.1097C>A (p.Ser366Tyr) c.1262C>A (p.Ser421Tyr) c.*762C>A (n.*762C>A) c.929C>A (p.Ser310Tyr) c.1388C>A (p.Ser463Tyr) c.1280C>A (p.Ser427Tyr) c.1433C>A (p.Ser478Tyr) c.1385C>A (p.Ser462Tyr) c.1268C>A (p.Ser423Tyr) c.1250C>A (p.Ser417Tyr) | dbSNP |
| 3 | g.69965103C>G | CA353559842 | MITF | c.1370C>G (p.Ser457Cys) c.1367C>G (p.Ser456Cys) n.1592C>G c.1343C>G (p.Ser448Cys) c.*181C>G (n.*181C>G) c.1436C>G (p.Ser479Cys) c.1115C>G (p.Ser372Cys) c.1415C>G (p.Ser472Cys) c.1418C>G (p.Ser473Cys) c.1097C>G (p.Ser366Cys) c.1262C>G (p.Ser421Cys) c.*762C>G (n.*762C>G) c.929C>G (p.Ser310Cys) c.1388C>G (p.Ser463Cys) c.1280C>G (p.Ser427Cys) c.1433C>G (p.Ser478Cys) c.1385C>G (p.Ser462Cys) c.1268C>G (p.Ser423Cys) c.1250C>G (p.Ser417Cys) | |
| 3 | g.69965103C>T | CA353559843 | MITF | c.1370C>T (p.Ser457Phe) c.1367C>T (p.Ser456Phe) n.1592C>T c.1343C>T (p.Ser448Phe) c.*181C>T (n.*181C>T) c.1436C>T (p.Ser479Phe) c.1115C>T (p.Ser372Phe) c.1415C>T (p.Ser472Phe) c.1418C>T (p.Ser473Phe) c.1097C>T (p.Ser366Phe) c.1262C>T (p.Ser421Phe) c.*762C>T (n.*762C>T) c.929C>T (p.Ser310Phe) c.1388C>T (p.Ser463Phe) c.1280C>T (p.Ser427Phe) c.1433C>T (p.Ser478Phe) c.1385C>T (p.Ser462Phe) c.1268C>T (p.Ser423Phe) c.1250C>T (p.Ser417Phe) | |
| 3 | g.69965104C>A | CA434433794 | MITF | c.1371C>A (p.Ser457=) c.1368C>A (p.Ser456=) n.1593C>A c.1344C>A (p.Ser448=) c.*182C>A (n.*182C>A) c.1437C>A (p.Ser479=) c.1116C>A (p.Ser372=) c.1416C>A (p.Ser472=) c.1419C>A (p.Ser473=) c.1098C>A (p.Ser366=) c.1263C>A (p.Ser421=) c.*763C>A (n.*763C>A) c.930C>A (p.Ser310=) c.1389C>A (p.Ser463=) c.1281C>A (p.Ser427=) c.1434C>A (p.Ser478=) c.1386C>A (p.Ser462=) c.1269C>A (p.Ser423=) c.1251C>A (p.Ser417=) | gnomAD v4 |
| 3 | g.69965104C= | CA1373414345 | MITF | c.1371C= (p.Ser457=) c.1368C= (p.Ser456=) n.1593C= c.1344C= (p.Ser448=) c.*182C= (n.*182C=) c.1437C= (p.Ser479=) c.1116C= (p.Ser372=) c.1416C= (p.Ser472=) c.1419C= (p.Ser473=) c.1098C= (p.Ser366=) c.1263C= (p.Ser421=) c.*763C= (n.*763C=) c.930C= (p.Ser310=) c.1389C= (p.Ser463=) c.1281C= (p.Ser427=) c.1434C= (p.Ser478=) c.1386C= (p.Ser462=) c.1269C= (p.Ser423=) c.1251C= (p.Ser417=) | |
| 3 | g.69965104C>G | CA434433795 | MITF | c.1371C>G (p.Ser457=) c.1368C>G (p.Ser456=) n.1593C>G c.1344C>G (p.Ser448=) c.*182C>G (n.*182C>G) c.1437C>G (p.Ser479=) c.1116C>G (p.Ser372=) c.1416C>G (p.Ser472=) c.1419C>G (p.Ser473=) c.1098C>G (p.Ser366=) c.1263C>G (p.Ser421=) c.*763C>G (n.*763C>G) c.930C>G (p.Ser310=) c.1389C>G (p.Ser463=) c.1281C>G (p.Ser427=) c.1434C>G (p.Ser478=) c.1386C>G (p.Ser462=) c.1269C>G (p.Ser423=) c.1251C>G (p.Ser417=) | |
| 3 | g.69965104C>T | CA434433796 | MITF | c.1371C>T (p.Ser457=) c.1368C>T (p.Ser456=) n.1593C>T c.1344C>T (p.Ser448=) c.*182C>T (n.*182C>T) c.1437C>T (p.Ser479=) c.1116C>T (p.Ser372=) c.1416C>T (p.Ser472=) c.1419C>T (p.Ser473=) c.1098C>T (p.Ser366=) c.1263C>T (p.Ser421=) c.*763C>T (n.*763C>T) c.930C>T (p.Ser310=) c.1389C>T (p.Ser463=) c.1281C>T (p.Ser427=) c.1434C>T (p.Ser478=) c.1386C>T (p.Ser462=) c.1269C>T (p.Ser423=) c.1251C>T (p.Ser417=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965105A>C | CA353559844 | MITF | c.1372A>C (p.Lys458Gln) c.1369A>C (p.Lys457Gln) n.1594A>C c.1345A>C (p.Lys449Gln) c.*183A>C (n.*183A>C) c.1438A>C (p.Lys480Gln) c.1117A>C (p.Lys373Gln) c.1417A>C (p.Lys473Gln) c.1420A>C (p.Lys474Gln) c.1099A>C (p.Lys367Gln) c.1264A>C (p.Lys422Gln) c.*764A>C (n.*764A>C) c.931A>C (p.Lys311Gln) c.1390A>C (p.Lys464Gln) c.1282A>C (p.Lys428Gln) c.1435A>C (p.Lys479Gln) c.1387A>C (p.Lys463Gln) c.1270A>C (p.Lys424Gln) c.1252A>C (p.Lys418Gln) | |
| 3 | g.69965105A>G | CA353559845 | MITF | c.1372A>G (p.Lys458Glu) c.1369A>G (p.Lys457Glu) n.1594A>G c.1345A>G (p.Lys449Glu) c.*183A>G (n.*183A>G) c.1438A>G (p.Lys480Glu) c.1117A>G (p.Lys373Glu) c.1417A>G (p.Lys473Glu) c.1420A>G (p.Lys474Glu) c.1099A>G (p.Lys367Glu) c.1264A>G (p.Lys422Glu) c.*764A>G (n.*764A>G) c.931A>G (p.Lys311Glu) c.1390A>G (p.Lys464Glu) c.1282A>G (p.Lys428Glu) c.1435A>G (p.Lys479Glu) c.1387A>G (p.Lys463Glu) c.1270A>G (p.Lys424Glu) c.1252A>G (p.Lys418Glu) | gnomAD v4 |
| 3 | g.69965105A>T | CA353559846 | MITF | c.1372A>T (p.Lys458Ter) c.1369A>T (p.Lys457Ter) n.1594A>T c.1345A>T (p.Lys449Ter) c.*183A>T (n.*183A>T) c.1438A>T (p.Lys480Ter) c.1117A>T (p.Lys373Ter) c.1417A>T (p.Lys473Ter) c.1420A>T (p.Lys474Ter) c.1099A>T (p.Lys367Ter) c.1264A>T (p.Lys422Ter) c.*764A>T (n.*764A>T) c.931A>T (p.Lys311Ter) c.1390A>T (p.Lys464Ter) c.1282A>T (p.Lys428Ter) c.1435A>T (p.Lys479Ter) c.1387A>T (p.Lys463Ter) c.1270A>T (p.Lys424Ter) c.1252A>T (p.Lys418Ter) | |
| 3 | g.69965106A>C | CA353559847 | MITF | c.1373A>C (p.Lys458Thr) c.1370A>C (p.Lys457Thr) n.1595A>C c.1346A>C (p.Lys449Thr) c.*184A>C (n.*184A>C) c.1439A>C (p.Lys480Thr) c.1118A>C (p.Lys373Thr) c.1418A>C (p.Lys473Thr) c.1421A>C (p.Lys474Thr) c.1100A>C (p.Lys367Thr) c.1265A>C (p.Lys422Thr) c.*765A>C (n.*765A>C) c.932A>C (p.Lys311Thr) c.1391A>C (p.Lys464Thr) c.1283A>C (p.Lys428Thr) c.1436A>C (p.Lys479Thr) c.1388A>C (p.Lys463Thr) c.1271A>C (p.Lys424Thr) c.1253A>C (p.Lys418Thr) | |
| 3 | g.69965106A>G | CA353559848 | MITF | c.1373A>G (p.Lys458Arg) c.1370A>G (p.Lys457Arg) n.1595A>G c.1346A>G (p.Lys449Arg) c.*184A>G (n.*184A>G) c.1439A>G (p.Lys480Arg) c.1118A>G (p.Lys373Arg) c.1418A>G (p.Lys473Arg) c.1421A>G (p.Lys474Arg) c.1100A>G (p.Lys367Arg) c.1265A>G (p.Lys422Arg) c.*765A>G (n.*765A>G) c.932A>G (p.Lys311Arg) c.1391A>G (p.Lys464Arg) c.1283A>G (p.Lys428Arg) c.1436A>G (p.Lys479Arg) c.1388A>G (p.Lys463Arg) c.1271A>G (p.Lys424Arg) c.1253A>G (p.Lys418Arg) | gnomAD v4 |
| 3 | g.69965106A>T | CA353559849 | MITF | c.1373A>T (p.Lys458Ile) c.1370A>T (p.Lys457Ile) n.1595A>T c.1346A>T (p.Lys449Ile) c.*184A>T (n.*184A>T) c.1439A>T (p.Lys480Ile) c.1118A>T (p.Lys373Ile) c.1418A>T (p.Lys473Ile) c.1421A>T (p.Lys474Ile) c.1100A>T (p.Lys367Ile) c.1265A>T (p.Lys422Ile) c.*765A>T (n.*765A>T) c.932A>T (p.Lys311Ile) c.1391A>T (p.Lys464Ile) c.1283A>T (p.Lys428Ile) c.1436A>T (p.Lys479Ile) c.1388A>T (p.Lys463Ile) c.1271A>T (p.Lys424Ile) c.1253A>T (p.Lys418Ile) | |
| 3 | g.69965107A>C | CA353559850 | MITF | c.1374A>C (p.Lys458Asn) c.1371A>C (p.Lys457Asn) n.1596A>C c.1347A>C (p.Lys449Asn) c.*185A>C (n.*185A>C) c.1440A>C (p.Lys480Asn) c.1119A>C (p.Lys373Asn) c.1419A>C (p.Lys473Asn) c.1422A>C (p.Lys474Asn) c.1101A>C (p.Lys367Asn) c.1266A>C (p.Lys422Asn) c.*766A>C (n.*766A>C) c.933A>C (p.Lys311Asn) c.1392A>C (p.Lys464Asn) c.1284A>C (p.Lys428Asn) c.1437A>C (p.Lys479Asn) c.1389A>C (p.Lys463Asn) c.1272A>C (p.Lys424Asn) c.1254A>C (p.Lys418Asn) | |
| 3 | g.69965107A>G | CA434433797 | MITF | c.1374A>G (p.Lys458=) c.1371A>G (p.Lys457=) n.1596A>G c.1347A>G (p.Lys449=) c.*185A>G (n.*185A>G) c.1440A>G (p.Lys480=) c.1119A>G (p.Lys373=) c.1419A>G (p.Lys473=) c.1422A>G (p.Lys474=) c.1101A>G (p.Lys367=) c.1266A>G (p.Lys422=) c.*766A>G (n.*766A>G) c.933A>G (p.Lys311=) c.1392A>G (p.Lys464=) c.1284A>G (p.Lys428=) c.1437A>G (p.Lys479=) c.1389A>G (p.Lys463=) c.1272A>G (p.Lys424=) c.1254A>G (p.Lys418=) | |
| 3 | g.69965107A>T | CA353559851 | MITF | c.1374A>T (p.Lys458Asn) c.1371A>T (p.Lys457Asn) n.1596A>T c.1347A>T (p.Lys449Asn) c.*185A>T (n.*185A>T) c.1440A>T (p.Lys480Asn) c.1119A>T (p.Lys373Asn) c.1419A>T (p.Lys473Asn) c.1422A>T (p.Lys474Asn) c.1101A>T (p.Lys367Asn) c.1266A>T (p.Lys422Asn) c.*766A>T (n.*766A>T) c.933A>T (p.Lys311Asn) c.1392A>T (p.Lys464Asn) c.1284A>T (p.Lys428Asn) c.1437A>T (p.Lys479Asn) c.1389A>T (p.Lys463Asn) c.1272A>T (p.Lys424Asn) c.1254A>T (p.Lys418Asn) | ClinVar |
| 3 | g.69965108C>A | CA353559852 | MITF | c.1375C>A (p.Leu459Met) c.1372C>A (p.Leu458Met) n.1597C>A c.1348C>A (p.Leu450Met) c.*186C>A (n.*186C>A) c.1441C>A (p.Leu481Met) c.1120C>A (p.Leu374Met) c.1420C>A (p.Leu474Met) c.1423C>A (p.Leu475Met) c.1102C>A (p.Leu368Met) c.1267C>A (p.Leu423Met) c.*767C>A (n.*767C>A) c.934C>A (p.Leu312Met) c.1393C>A (p.Leu465Met) c.1285C>A (p.Leu429Met) c.1438C>A (p.Leu480Met) c.1390C>A (p.Leu464Met) c.1273C>A (p.Leu425Met) c.1255C>A (p.Leu419Met) | |
| 3 | g.69965108C>G | CA353559853 | MITF | c.1375C>G (p.Leu459Val) c.1372C>G (p.Leu458Val) n.1597C>G c.1348C>G (p.Leu450Val) c.*186C>G (n.*186C>G) c.1441C>G (p.Leu481Val) c.1120C>G (p.Leu374Val) c.1420C>G (p.Leu474Val) c.1423C>G (p.Leu475Val) c.1102C>G (p.Leu368Val) c.1267C>G (p.Leu423Val) c.*767C>G (n.*767C>G) c.934C>G (p.Leu312Val) c.1393C>G (p.Leu465Val) c.1285C>G (p.Leu429Val) c.1438C>G (p.Leu480Val) c.1390C>G (p.Leu464Val) c.1273C>G (p.Leu425Val) c.1255C>G (p.Leu419Val) | |
| 3 | g.69965108C>T | CA434433798 | MITF | c.1375C>T (p.Leu459=) c.1372C>T (p.Leu458=) n.1597C>T c.1348C>T (p.Leu450=) c.*186C>T (n.*186C>T) c.1441C>T (p.Leu481=) c.1120C>T (p.Leu374=) c.1420C>T (p.Leu474=) c.1423C>T (p.Leu475=) c.1102C>T (p.Leu368=) c.1267C>T (p.Leu423=) c.*767C>T (n.*767C>T) c.934C>T (p.Leu312=) c.1393C>T (p.Leu465=) c.1285C>T (p.Leu429=) c.1438C>T (p.Leu480=) c.1390C>T (p.Leu464=) c.1273C>T (p.Leu425=) c.1255C>T (p.Leu419=) | dbSNP |
| 3 | g.69965109T>A | CA353559855 | MITF | c.1376T>A (p.Leu459Gln) c.1373T>A (p.Leu458Gln) n.1598T>A c.1349T>A (p.Leu450Gln) c.*187T>A (n.*187T>A) c.1442T>A (p.Leu481Gln) c.1121T>A (p.Leu374Gln) c.1421T>A (p.Leu474Gln) c.1424T>A (p.Leu475Gln) c.1103T>A (p.Leu368Gln) c.1268T>A (p.Leu423Gln) c.*768T>A (n.*768T>A) c.935T>A (p.Leu312Gln) c.1394T>A (p.Leu465Gln) c.1286T>A (p.Leu429Gln) c.1439T>A (p.Leu480Gln) c.1391T>A (p.Leu464Gln) c.1274T>A (p.Leu425Gln) c.1256T>A (p.Leu419Gln) | |
| 3 | g.69965109T>C | CA353559856 | MITF | c.1376T>C (p.Leu459Pro) c.1373T>C (p.Leu458Pro) n.1598T>C c.1349T>C (p.Leu450Pro) c.*187T>C (n.*187T>C) c.1442T>C (p.Leu481Pro) c.1121T>C (p.Leu374Pro) c.1421T>C (p.Leu474Pro) c.1424T>C (p.Leu475Pro) c.1103T>C (p.Leu368Pro) c.1268T>C (p.Leu423Pro) c.*768T>C (n.*768T>C) c.935T>C (p.Leu312Pro) c.1394T>C (p.Leu465Pro) c.1286T>C (p.Leu429Pro) c.1439T>C (p.Leu480Pro) c.1391T>C (p.Leu464Pro) c.1274T>C (p.Leu425Pro) c.1256T>C (p.Leu419Pro) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965109T>G | CA353559854 | MITF | c.1376T>G (p.Leu459Arg) c.1373T>G (p.Leu458Arg) n.1598T>G c.1349T>G (p.Leu450Arg) c.*187T>G (n.*187T>G) c.1442T>G (p.Leu481Arg) c.1121T>G (p.Leu374Arg) c.1421T>G (p.Leu474Arg) c.1424T>G (p.Leu475Arg) c.1103T>G (p.Leu368Arg) c.1268T>G (p.Leu423Arg) c.*768T>G (n.*768T>G) c.935T>G (p.Leu312Arg) c.1394T>G (p.Leu465Arg) c.1286T>G (p.Leu429Arg) c.1439T>G (p.Leu480Arg) c.1391T>G (p.Leu464Arg) c.1274T>G (p.Leu425Arg) c.1256T>G (p.Leu419Arg) | |
| 3 | g.69965110G>A | CA2490669 | MITF | c.1377G>A (p.Leu459=) c.1374G>A (p.Leu458=) n.1599G>A c.1350G>A (p.Leu450=) c.*188G>A (n.*188G>A) c.1443G>A (p.Leu481=) c.1122G>A (p.Leu374=) c.1422G>A (p.Leu474=) c.1425G>A (p.Leu475=) c.1104G>A (p.Leu368=) c.1269G>A (p.Leu423=) c.*769G>A (n.*769G>A) c.936G>A (p.Leu312=) c.1395G>A (p.Leu465=) c.1287G>A (p.Leu429=) c.1440G>A (p.Leu480=) c.1392G>A (p.Leu464=) c.1275G>A (p.Leu425=) c.1257G>A (p.Leu419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965110G>C | CA434433799 | MITF | c.1377G>C (p.Leu459=) c.1374G>C (p.Leu458=) n.1599G>C c.1350G>C (p.Leu450=) c.*188G>C (n.*188G>C) c.1443G>C (p.Leu481=) c.1122G>C (p.Leu374=) c.1422G>C (p.Leu474=) c.1425G>C (p.Leu475=) c.1104G>C (p.Leu368=) c.1269G>C (p.Leu423=) c.*769G>C (n.*769G>C) c.936G>C (p.Leu312=) c.1395G>C (p.Leu465=) c.1287G>C (p.Leu429=) c.1440G>C (p.Leu480=) c.1392G>C (p.Leu464=) c.1275G>C (p.Leu425=) c.1257G>C (p.Leu419=) | |
| 3 | g.69965110G= | CA1373414349 | MITF | c.1377G= (p.Leu459=) c.1374G= (p.Leu458=) n.1599G= c.1350G= (p.Leu450=) c.*188G= (n.*188G=) c.1443G= (p.Leu481=) c.1122G= (p.Leu374=) c.1422G= (p.Leu474=) c.1425G= (p.Leu475=) c.1104G= (p.Leu368=) c.1269G= (p.Leu423=) c.*769G= (n.*769G=) c.936G= (p.Leu312=) c.1395G= (p.Leu465=) c.1287G= (p.Leu429=) c.1440G= (p.Leu480=) c.1392G= (p.Leu464=) c.1275G= (p.Leu425=) c.1257G= (p.Leu419=) | |
| 3 | g.69965110G>T | CA434433800 | MITF | c.1377G>T (p.Leu459=) c.1374G>T (p.Leu458=) n.1599G>T c.1350G>T (p.Leu450=) c.*188G>T (n.*188G>T) c.1443G>T (p.Leu481=) c.1122G>T (p.Leu374=) c.1422G>T (p.Leu474=) c.1425G>T (p.Leu475=) c.1104G>T (p.Leu368=) c.1269G>T (p.Leu423=) c.*769G>T (n.*769G>T) c.936G>T (p.Leu312=) c.1395G>T (p.Leu465=) c.1287G>T (p.Leu429=) c.1440G>T (p.Leu480=) c.1392G>T (p.Leu464=) c.1275G>T (p.Leu425=) c.1257G>T (p.Leu419=) | |
| 3 | g.69965111G>A | CA353559857 | MITF | c.1378G>A (p.Glu460Lys) c.1375G>A (p.Glu459Lys) n.1600G>A c.1351G>A (p.Glu451Lys) c.*189G>A (n.*189G>A) c.1444G>A (p.Glu482Lys) c.1123G>A (p.Glu375Lys) c.1423G>A (p.Glu475Lys) c.1426G>A (p.Glu476Lys) c.1105G>A (p.Glu369Lys) c.1270G>A (p.Glu424Lys) c.*770G>A (n.*770G>A) c.937G>A (p.Glu313Lys) c.1396G>A (p.Glu466Lys) c.1288G>A (p.Glu430Lys) c.1441G>A (p.Glu481Lys) c.1393G>A (p.Glu465Lys) c.1276G>A (p.Glu426Lys) c.1258G>A (p.Glu420Lys) | |
| 3 | g.69965111G>C | CA353559858 | MITF | c.1378G>C (p.Glu460Gln) c.1375G>C (p.Glu459Gln) n.1600G>C c.1351G>C (p.Glu451Gln) c.*189G>C (n.*189G>C) c.1444G>C (p.Glu482Gln) c.1123G>C (p.Glu375Gln) c.1423G>C (p.Glu475Gln) c.1426G>C (p.Glu476Gln) c.1105G>C (p.Glu369Gln) c.1270G>C (p.Glu424Gln) c.*770G>C (n.*770G>C) c.937G>C (p.Glu313Gln) c.1396G>C (p.Glu466Gln) c.1288G>C (p.Glu430Gln) c.1441G>C (p.Glu481Gln) c.1393G>C (p.Glu465Gln) c.1276G>C (p.Glu426Gln) c.1258G>C (p.Glu420Gln) | dbSNP |
| 3 | g.69965111G>T | CA353559859 | MITF | c.1378G>T (p.Glu460Ter) c.1375G>T (p.Glu459Ter) n.1600G>T c.1351G>T (p.Glu451Ter) c.*189G>T (n.*189G>T) c.1444G>T (p.Glu482Ter) c.1123G>T (p.Glu375Ter) c.1423G>T (p.Glu475Ter) c.1426G>T (p.Glu476Ter) c.1105G>T (p.Glu369Ter) c.1270G>T (p.Glu424Ter) c.*770G>T (n.*770G>T) c.937G>T (p.Glu313Ter) c.1396G>T (p.Glu466Ter) c.1288G>T (p.Glu430Ter) c.1441G>T (p.Glu481Ter) c.1393G>T (p.Glu465Ter) c.1276G>T (p.Glu426Ter) c.1258G>T (p.Glu420Ter) | |
| 3 | g.69965112A>C | CA353559860 | MITF | c.1379A>C (p.Glu460Ala) c.1376A>C (p.Glu459Ala) n.1601A>C c.1352A>C (p.Glu451Ala) c.*190A>C (n.*190A>C) c.1445A>C (p.Glu482Ala) c.1124A>C (p.Glu375Ala) c.1424A>C (p.Glu475Ala) c.1427A>C (p.Glu476Ala) c.1106A>C (p.Glu369Ala) c.1271A>C (p.Glu424Ala) c.*771A>C (n.*771A>C) c.938A>C (p.Glu313Ala) c.1397A>C (p.Glu466Ala) c.1289A>C (p.Glu430Ala) c.1442A>C (p.Glu481Ala) c.1394A>C (p.Glu465Ala) c.1277A>C (p.Glu426Ala) c.1259A>C (p.Glu420Ala) | |
| 3 | g.69965112A>G | CA353559861 | MITF | c.1379A>G (p.Glu460Gly) c.1376A>G (p.Glu459Gly) n.1601A>G c.1352A>G (p.Glu451Gly) c.*190A>G (n.*190A>G) c.1445A>G (p.Glu482Gly) c.1124A>G (p.Glu375Gly) c.1424A>G (p.Glu475Gly) c.1427A>G (p.Glu476Gly) c.1106A>G (p.Glu369Gly) c.1271A>G (p.Glu424Gly) c.*771A>G (n.*771A>G) c.938A>G (p.Glu313Gly) c.1397A>G (p.Glu466Gly) c.1289A>G (p.Glu430Gly) c.1442A>G (p.Glu481Gly) c.1394A>G (p.Glu465Gly) c.1277A>G (p.Glu426Gly) c.1259A>G (p.Glu420Gly) | |
| 3 | g.69965112A>T | CA353559862 | MITF | c.1379A>T (p.Glu460Val) c.1376A>T (p.Glu459Val) n.1601A>T c.1352A>T (p.Glu451Val) c.*190A>T (n.*190A>T) c.1445A>T (p.Glu482Val) c.1124A>T (p.Glu375Val) c.1424A>T (p.Glu475Val) c.1427A>T (p.Glu476Val) c.1106A>T (p.Glu369Val) c.1271A>T (p.Glu424Val) c.*771A>T (n.*771A>T) c.938A>T (p.Glu313Val) c.1397A>T (p.Glu466Val) c.1289A>T (p.Glu430Val) c.1442A>T (p.Glu481Val) c.1394A>T (p.Glu465Val) c.1277A>T (p.Glu426Val) c.1259A>T (p.Glu420Val) | |
| 3 | g.69965113A>C | CA353559863 | MITF | c.1380A>C (p.Glu460Asp) c.1377A>C (p.Glu459Asp) n.1602A>C c.1353A>C (p.Glu451Asp) c.*191A>C (n.*191A>C) c.1446A>C (p.Glu482Asp) c.1125A>C (p.Glu375Asp) c.1425A>C (p.Glu475Asp) c.1428A>C (p.Glu476Asp) c.1107A>C (p.Glu369Asp) c.1272A>C (p.Glu424Asp) c.*772A>C (n.*772A>C) c.939A>C (p.Glu313Asp) c.1398A>C (p.Glu466Asp) c.1290A>C (p.Glu430Asp) c.1443A>C (p.Glu481Asp) c.1395A>C (p.Glu465Asp) c.1278A>C (p.Glu426Asp) c.1260A>C (p.Glu420Asp) | |
| 3 | g.69965113A>G | CA434433801 | MITF | c.1380A>G (p.Glu460=) c.1377A>G (p.Glu459=) n.1602A>G c.1353A>G (p.Glu451=) c.*191A>G (n.*191A>G) c.1446A>G (p.Glu482=) c.1125A>G (p.Glu375=) c.1425A>G (p.Glu475=) c.1428A>G (p.Glu476=) c.1107A>G (p.Glu369=) c.1272A>G (p.Glu424=) c.*772A>G (n.*772A>G) c.939A>G (p.Glu313=) c.1398A>G (p.Glu466=) c.1290A>G (p.Glu430=) c.1443A>G (p.Glu481=) c.1395A>G (p.Glu465=) c.1278A>G (p.Glu426=) c.1260A>G (p.Glu420=) | |
| 3 | g.69965113A>T | CA353559864 | MITF | c.1380A>T (p.Glu460Asp) c.1377A>T (p.Glu459Asp) n.1602A>T c.1353A>T (p.Glu451Asp) c.*191A>T (n.*191A>T) c.1446A>T (p.Glu482Asp) c.1125A>T (p.Glu375Asp) c.1425A>T (p.Glu475Asp) c.1428A>T (p.Glu476Asp) c.1107A>T (p.Glu369Asp) c.1272A>T (p.Glu424Asp) c.*772A>T (n.*772A>T) c.939A>T (p.Glu313Asp) c.1398A>T (p.Glu466Asp) c.1290A>T (p.Glu430Asp) c.1443A>T (p.Glu481Asp) c.1395A>T (p.Glu465Asp) c.1278A>T (p.Glu426Asp) c.1260A>T (p.Glu420Asp) | |
| 3 | g.69965114G>A | CA353559865 | MITF | c.1381G>A (p.Asp461Asn) c.1378G>A (p.Asp460Asn) n.1603G>A c.1354G>A (p.Asp452Asn) c.*192G>A (n.*192G>A) c.1447G>A (p.Asp483Asn) c.1126G>A (p.Asp376Asn) c.1426G>A (p.Asp476Asn) c.1429G>A (p.Asp477Asn) c.1108G>A (p.Asp370Asn) c.1273G>A (p.Asp425Asn) c.*773G>A (n.*773G>A) c.940G>A (p.Asp314Asn) c.1399G>A (p.Asp467Asn) c.1291G>A (p.Asp431Asn) c.1444G>A (p.Asp482Asn) c.1396G>A (p.Asp466Asn) c.1279G>A (p.Asp427Asn) c.1261G>A (p.Asp421Asn) | dbSNP |
| 3 | g.69965114G>C | CA353559866 | MITF | c.1381G>C (p.Asp461His) c.1378G>C (p.Asp460His) n.1603G>C c.1354G>C (p.Asp452His) c.*192G>C (n.*192G>C) c.1447G>C (p.Asp483His) c.1126G>C (p.Asp376His) c.1426G>C (p.Asp476His) c.1429G>C (p.Asp477His) c.1108G>C (p.Asp370His) c.1273G>C (p.Asp425His) c.*773G>C (n.*773G>C) c.940G>C (p.Asp314His) c.1399G>C (p.Asp467His) c.1291G>C (p.Asp431His) c.1444G>C (p.Asp482His) c.1396G>C (p.Asp466His) c.1279G>C (p.Asp427His) c.1261G>C (p.Asp421His) | |
| 3 | g.69965114G= | CA1373414354 | MITF | c.1381G= (p.Asp461=) c.1378G= (p.Asp460=) n.1603G= c.1354G= (p.Asp452=) c.*192G= (n.*192G=) c.1447G= (p.Asp483=) c.1126G= (p.Asp376=) c.1426G= (p.Asp476=) c.1429G= (p.Asp477=) c.1108G= (p.Asp370=) c.1273G= (p.Asp425=) c.*773G= (n.*773G=) c.940G= (p.Asp314=) c.1399G= (p.Asp467=) c.1291G= (p.Asp431=) c.1444G= (p.Asp482=) c.1396G= (p.Asp466=) c.1279G= (p.Asp427=) c.1261G= (p.Asp421=) | |
| 3 | g.69965114G>T | CA77003527 | MITF | c.1381G>T (p.Asp461Tyr) c.1378G>T (p.Asp460Tyr) n.1603G>T c.1354G>T (p.Asp452Tyr) c.*192G>T (n.*192G>T) c.1447G>T (p.Asp483Tyr) c.1126G>T (p.Asp376Tyr) c.1426G>T (p.Asp476Tyr) c.1429G>T (p.Asp477Tyr) c.1108G>T (p.Asp370Tyr) c.1273G>T (p.Asp425Tyr) c.*773G>T (n.*773G>T) c.940G>T (p.Asp314Tyr) c.1399G>T (p.Asp467Tyr) c.1291G>T (p.Asp431Tyr) c.1444G>T (p.Asp482Tyr) c.1396G>T (p.Asp466Tyr) c.1279G>T (p.Asp427Tyr) c.1261G>T (p.Asp421Tyr) | dbSNP |
| 3 | g.69965115A= | CA1373414357 | MITF | c.1382A= (p.Asp461=) c.1379A= (p.Asp460=) n.1604A= c.1355A= (p.Asp452=) c.*193A= (n.*193A=) c.1448A= (p.Asp483=) c.1127A= (p.Asp376=) c.1427A= (p.Asp476=) c.1430A= (p.Asp477=) c.1109A= (p.Asp370=) c.1274A= (p.Asp425=) c.*774A= (n.*774A=) c.941A= (p.Asp314=) c.1400A= (p.Asp467=) c.1292A= (p.Asp431=) c.1445A= (p.Asp482=) c.1397A= (p.Asp466=) c.1280A= (p.Asp427=) c.1262A= (p.Asp421=) | |
| 3 | g.69965115A>C | CA353559868 | MITF | c.1382A>C (p.Asp461Ala) c.1379A>C (p.Asp460Ala) n.1604A>C c.1355A>C (p.Asp452Ala) c.*193A>C (n.*193A>C) c.1448A>C (p.Asp483Ala) c.1127A>C (p.Asp376Ala) c.1427A>C (p.Asp476Ala) c.1430A>C (p.Asp477Ala) c.1109A>C (p.Asp370Ala) c.1274A>C (p.Asp425Ala) c.*774A>C (n.*774A>C) c.941A>C (p.Asp314Ala) c.1400A>C (p.Asp467Ala) c.1292A>C (p.Asp431Ala) c.1445A>C (p.Asp482Ala) c.1397A>C (p.Asp466Ala) c.1280A>C (p.Asp427Ala) c.1262A>C (p.Asp421Ala) | |
| 3 | g.69965115A>G | CA353559869 | MITF | c.1382A>G (p.Asp461Gly) c.1379A>G (p.Asp460Gly) n.1604A>G c.1355A>G (p.Asp452Gly) c.*193A>G (n.*193A>G) c.1448A>G (p.Asp483Gly) c.1127A>G (p.Asp376Gly) c.1427A>G (p.Asp476Gly) c.1430A>G (p.Asp477Gly) c.1109A>G (p.Asp370Gly) c.1274A>G (p.Asp425Gly) c.*774A>G (n.*774A>G) c.941A>G (p.Asp314Gly) c.1400A>G (p.Asp467Gly) c.1292A>G (p.Asp431Gly) c.1445A>G (p.Asp482Gly) c.1397A>G (p.Asp466Gly) c.1280A>G (p.Asp427Gly) c.1262A>G (p.Asp421Gly) | dbSNP |
| 3 | g.69965115A>T | CA353559867 | MITF | c.1382A>T (p.Asp461Val) c.1379A>T (p.Asp460Val) n.1604A>T c.1355A>T (p.Asp452Val) c.*193A>T (n.*193A>T) c.1448A>T (p.Asp483Val) c.1127A>T (p.Asp376Val) c.1427A>T (p.Asp476Val) c.1430A>T (p.Asp477Val) c.1109A>T (p.Asp370Val) c.1274A>T (p.Asp425Val) c.*774A>T (n.*774A>T) c.941A>T (p.Asp314Val) c.1400A>T (p.Asp467Val) c.1292A>T (p.Asp431Val) c.1445A>T (p.Asp482Val) c.1397A>T (p.Asp466Val) c.1280A>T (p.Asp427Val) c.1262A>T (p.Asp421Val) | |
| 3 | g.69965116C>A | CA2490670 | MITF | c.1383C>A (p.Asp461Glu) c.1380C>A (p.Asp460Glu) n.1605C>A c.1356C>A (p.Asp452Glu) c.*194C>A (n.*194C>A) c.1449C>A (p.Asp483Glu) c.1128C>A (p.Asp376Glu) c.1428C>A (p.Asp476Glu) c.1431C>A (p.Asp477Glu) c.1110C>A (p.Asp370Glu) c.1275C>A (p.Asp425Glu) c.*775C>A (n.*775C>A) c.942C>A (p.Asp314Glu) c.1401C>A (p.Asp467Glu) c.1293C>A (p.Asp431Glu) c.1446C>A (p.Asp482Glu) c.1398C>A (p.Asp466Glu) c.1281C>A (p.Asp427Glu) c.1263C>A (p.Asp421Glu) | dbSNP ExAC gnomAD v2 |
| 3 | g.69965116C= | CA1373414361 | MITF | c.1383C= (p.Asp461=) c.1380C= (p.Asp460=) n.1605C= c.1356C= (p.Asp452=) c.*194C= (n.*194C=) c.1449C= (p.Asp483=) c.1128C= (p.Asp376=) c.1428C= (p.Asp476=) c.1431C= (p.Asp477=) c.1110C= (p.Asp370=) c.1275C= (p.Asp425=) c.*775C= (n.*775C=) c.942C= (p.Asp314=) c.1401C= (p.Asp467=) c.1293C= (p.Asp431=) c.1446C= (p.Asp482=) c.1398C= (p.Asp466=) c.1281C= (p.Asp427=) c.1263C= (p.Asp421=) | |
| 3 | g.69965116C>G | CA353559870 | MITF | c.1383C>G (p.Asp461Glu) c.1380C>G (p.Asp460Glu) n.1605C>G c.1356C>G (p.Asp452Glu) c.*194C>G (n.*194C>G) c.1449C>G (p.Asp483Glu) c.1128C>G (p.Asp376Glu) c.1428C>G (p.Asp476Glu) c.1431C>G (p.Asp477Glu) c.1110C>G (p.Asp370Glu) c.1275C>G (p.Asp425Glu) c.*775C>G (n.*775C>G) c.942C>G (p.Asp314Glu) c.1401C>G (p.Asp467Glu) c.1293C>G (p.Asp431Glu) c.1446C>G (p.Asp482Glu) c.1398C>G (p.Asp466Glu) c.1281C>G (p.Asp427Glu) c.1263C>G (p.Asp421Glu) | |
| 3 | g.69965116C>T | CA434433802 | MITF | c.1383C>T (p.Asp461=) c.1380C>T (p.Asp460=) n.1605C>T c.1356C>T (p.Asp452=) c.*194C>T (n.*194C>T) c.1449C>T (p.Asp483=) c.1128C>T (p.Asp376=) c.1428C>T (p.Asp476=) c.1431C>T (p.Asp477=) c.1110C>T (p.Asp370=) c.1275C>T (p.Asp425=) c.*775C>T (n.*775C>T) c.942C>T (p.Asp314=) c.1401C>T (p.Asp467=) c.1293C>T (p.Asp431=) c.1446C>T (p.Asp482=) c.1398C>T (p.Asp466=) c.1281C>T (p.Asp427=) c.1263C>T (p.Asp421=) | |
| 3 | g.69965117A>C | CA353559871 | MITF | c.1384A>C (p.Ile462Leu) c.1381A>C (p.Ile461Leu) n.1606A>C c.1357A>C (p.Ile453Leu) c.*195A>C (n.*195A>C) c.1450A>C (p.Ile484Leu) c.1129A>C (p.Ile377Leu) c.1429A>C (p.Ile477Leu) c.1432A>C (p.Ile478Leu) c.1111A>C (p.Ile371Leu) c.1276A>C (p.Ile426Leu) c.*776A>C (n.*776A>C) c.943A>C (p.Ile315Leu) c.1402A>C (p.Ile468Leu) c.1294A>C (p.Ile432Leu) c.1447A>C (p.Ile483Leu) c.1399A>C (p.Ile467Leu) c.1282A>C (p.Ile428Leu) c.1264A>C (p.Ile422Leu) | |
| 3 | g.69965117A>G | CA353559872 | MITF | c.1384A>G (p.Ile462Val) c.1381A>G (p.Ile461Val) n.1606A>G c.1357A>G (p.Ile453Val) c.*195A>G (n.*195A>G) c.1450A>G (p.Ile484Val) c.1129A>G (p.Ile377Val) c.1429A>G (p.Ile477Val) c.1432A>G (p.Ile478Val) c.1111A>G (p.Ile371Val) c.1276A>G (p.Ile426Val) c.*776A>G (n.*776A>G) c.943A>G (p.Ile315Val) c.1402A>G (p.Ile468Val) c.1294A>G (p.Ile432Val) c.1447A>G (p.Ile483Val) c.1399A>G (p.Ile467Val) c.1282A>G (p.Ile428Val) c.1264A>G (p.Ile422Val) | |
| 3 | g.69965117A>T | CA353559873 | MITF | c.1384A>T (p.Ile462Phe) c.1381A>T (p.Ile461Phe) n.1606A>T c.1357A>T (p.Ile453Phe) c.*195A>T (n.*195A>T) c.1450A>T (p.Ile484Phe) c.1129A>T (p.Ile377Phe) c.1429A>T (p.Ile477Phe) c.1432A>T (p.Ile478Phe) c.1111A>T (p.Ile371Phe) c.1276A>T (p.Ile426Phe) c.*776A>T (n.*776A>T) c.943A>T (p.Ile315Phe) c.1402A>T (p.Ile468Phe) c.1294A>T (p.Ile432Phe) c.1447A>T (p.Ile483Phe) c.1399A>T (p.Ile467Phe) c.1282A>T (p.Ile428Phe) c.1264A>T (p.Ile422Phe) | |
| 3 | g.69965118T>A | CA353559876 | MITF | c.1385T>A (p.Ile462Asn) c.1382T>A (p.Ile461Asn) n.1607T>A c.1358T>A (p.Ile453Asn) c.*196T>A (n.*196T>A) c.1451T>A (p.Ile484Asn) c.1130T>A (p.Ile377Asn) c.1430T>A (p.Ile477Asn) c.1433T>A (p.Ile478Asn) c.1112T>A (p.Ile371Asn) c.1277T>A (p.Ile426Asn) c.*777T>A (n.*777T>A) c.944T>A (p.Ile315Asn) c.1403T>A (p.Ile468Asn) c.1295T>A (p.Ile432Asn) c.1448T>A (p.Ile483Asn) c.1400T>A (p.Ile467Asn) c.1283T>A (p.Ile428Asn) c.1265T>A (p.Ile422Asn) | |
| 3 | g.69965118T>C | CA353559875 | MITF | c.1385T>C (p.Ile462Thr) c.1382T>C (p.Ile461Thr) n.1607T>C c.1358T>C (p.Ile453Thr) c.*196T>C (n.*196T>C) c.1451T>C (p.Ile484Thr) c.1130T>C (p.Ile377Thr) c.1430T>C (p.Ile477Thr) c.1433T>C (p.Ile478Thr) c.1112T>C (p.Ile371Thr) c.1277T>C (p.Ile426Thr) c.*777T>C (n.*777T>C) c.944T>C (p.Ile315Thr) c.1403T>C (p.Ile468Thr) c.1295T>C (p.Ile432Thr) c.1448T>C (p.Ile483Thr) c.1400T>C (p.Ile467Thr) c.1283T>C (p.Ile428Thr) c.1265T>C (p.Ile422Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965118T>G | CA353559874 | MITF | c.1385T>G (p.Ile462Ser) c.1382T>G (p.Ile461Ser) n.1607T>G c.1358T>G (p.Ile453Ser) c.*196T>G (n.*196T>G) c.1451T>G (p.Ile484Ser) c.1130T>G (p.Ile377Ser) c.1430T>G (p.Ile477Ser) c.1433T>G (p.Ile478Ser) c.1112T>G (p.Ile371Ser) c.1277T>G (p.Ile426Ser) c.*777T>G (n.*777T>G) c.944T>G (p.Ile315Ser) c.1403T>G (p.Ile468Ser) c.1295T>G (p.Ile432Ser) c.1448T>G (p.Ile483Ser) c.1400T>G (p.Ile467Ser) c.1283T>G (p.Ile428Ser) c.1265T>G (p.Ile422Ser) | |
| 3 | g.69965118T= | CA1373414364 | MITF | c.1385T= (p.Ile462=) c.1382T= (p.Ile461=) n.1607T= c.1358T= (p.Ile453=) c.*196T= (n.*196T=) c.1451T= (p.Ile484=) c.1130T= (p.Ile377=) c.1430T= (p.Ile477=) c.1433T= (p.Ile478=) c.1112T= (p.Ile371=) c.1277T= (p.Ile426=) c.*777T= (n.*777T=) c.944T= (p.Ile315=) c.1403T= (p.Ile468=) c.1295T= (p.Ile432=) c.1448T= (p.Ile483=) c.1400T= (p.Ile467=) c.1283T= (p.Ile428=) c.1265T= (p.Ile422=) | |
| 3 | g.69965119C>A | CA434433803 | MITF | c.1386C>A (p.Ile462=) c.1383C>A (p.Ile461=) n.1608C>A c.1359C>A (p.Ile453=) c.*197C>A (n.*197C>A) c.1452C>A (p.Ile484=) c.1131C>A (p.Ile377=) c.1431C>A (p.Ile477=) c.1434C>A (p.Ile478=) c.1113C>A (p.Ile371=) c.1278C>A (p.Ile426=) c.*778C>A (n.*778C>A) c.945C>A (p.Ile315=) c.1404C>A (p.Ile468=) c.1296C>A (p.Ile432=) c.1449C>A (p.Ile483=) c.1401C>A (p.Ile467=) c.1284C>A (p.Ile428=) c.1266C>A (p.Ile422=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965119C>G | CA353559877 | MITF | c.1386C>G (p.Ile462Met) c.1383C>G (p.Ile461Met) n.1608C>G c.1359C>G (p.Ile453Met) c.*197C>G (n.*197C>G) c.1452C>G (p.Ile484Met) c.1131C>G (p.Ile377Met) c.1431C>G (p.Ile477Met) c.1434C>G (p.Ile478Met) c.1113C>G (p.Ile371Met) c.1278C>G (p.Ile426Met) c.*778C>G (n.*778C>G) c.945C>G (p.Ile315Met) c.1404C>G (p.Ile468Met) c.1296C>G (p.Ile432Met) c.1449C>G (p.Ile483Met) c.1401C>G (p.Ile467Met) c.1284C>G (p.Ile428Met) c.1266C>G (p.Ile422Met) | |
| 3 | g.69965119C>T | CA434433804 | MITF | c.1386C>T (p.Ile462=) c.1383C>T (p.Ile461=) n.1608C>T c.1359C>T (p.Ile453=) c.*197C>T (n.*197C>T) c.1452C>T (p.Ile484=) c.1131C>T (p.Ile377=) c.1431C>T (p.Ile477=) c.1434C>T (p.Ile478=) c.1113C>T (p.Ile371=) c.1278C>T (p.Ile426=) c.*778C>T (n.*778C>T) c.945C>T (p.Ile315=) c.1404C>T (p.Ile468=) c.1296C>T (p.Ile432=) c.1449C>T (p.Ile483=) c.1401C>T (p.Ile467=) c.1284C>T (p.Ile428=) c.1266C>T (p.Ile422=) | gnomAD v4 |
| 3 | g.69965120C>A | CA353559878 | MITF | c.1387C>A (p.Leu463Met) c.1384C>A (p.Leu462Met) n.1609C>A c.1360C>A (p.Leu454Met) c.*198C>A (n.*198C>A) c.1453C>A (p.Leu485Met) c.1132C>A (p.Leu378Met) c.1432C>A (p.Leu478Met) c.1435C>A (p.Leu479Met) c.1114C>A (p.Leu372Met) c.1279C>A (p.Leu427Met) c.*779C>A (n.*779C>A) c.946C>A (p.Leu316Met) c.1405C>A (p.Leu469Met) c.1297C>A (p.Leu433Met) c.1450C>A (p.Leu484Met) c.1402C>A (p.Leu468Met) c.1285C>A (p.Leu429Met) c.1267C>A (p.Leu423Met) | dbSNP |
| 3 | g.69965120C>G | CA353559879 | MITF | c.1387C>G (p.Leu463Val) c.1384C>G (p.Leu462Val) n.1609C>G c.1360C>G (p.Leu454Val) c.*198C>G (n.*198C>G) c.1453C>G (p.Leu485Val) c.1132C>G (p.Leu378Val) c.1432C>G (p.Leu478Val) c.1435C>G (p.Leu479Val) c.1114C>G (p.Leu372Val) c.1279C>G (p.Leu427Val) c.*779C>G (n.*779C>G) c.946C>G (p.Leu316Val) c.1405C>G (p.Leu469Val) c.1297C>G (p.Leu433Val) c.1450C>G (p.Leu484Val) c.1402C>G (p.Leu468Val) c.1285C>G (p.Leu429Val) c.1267C>G (p.Leu423Val) | |
| 3 | g.69965120C>T | CA434433805 | MITF | c.1387C>T (p.Leu463=) c.1384C>T (p.Leu462=) n.1609C>T c.1360C>T (p.Leu454=) c.*198C>T (n.*198C>T) c.1453C>T (p.Leu485=) c.1132C>T (p.Leu378=) c.1432C>T (p.Leu478=) c.1435C>T (p.Leu479=) c.1114C>T (p.Leu372=) c.1279C>T (p.Leu427=) c.*779C>T (n.*779C>T) c.946C>T (p.Leu316=) c.1405C>T (p.Leu469=) c.1297C>T (p.Leu433=) c.1450C>T (p.Leu484=) c.1402C>T (p.Leu468=) c.1285C>T (p.Leu429=) c.1267C>T (p.Leu423=) | |
| 3 | g.69965121T>A | CA353559880 | MITF | c.1388T>A (p.Leu463Gln) c.1385T>A (p.Leu462Gln) n.1610T>A c.1361T>A (p.Leu454Gln) c.*199T>A (n.*199T>A) c.1454T>A (p.Leu485Gln) c.1133T>A (p.Leu378Gln) c.1433T>A (p.Leu478Gln) c.1436T>A (p.Leu479Gln) c.1115T>A (p.Leu372Gln) c.1280T>A (p.Leu427Gln) c.*780T>A (n.*780T>A) c.947T>A (p.Leu316Gln) c.1406T>A (p.Leu469Gln) c.1298T>A (p.Leu433Gln) c.1451T>A (p.Leu484Gln) c.1403T>A (p.Leu468Gln) c.1286T>A (p.Leu429Gln) c.1268T>A (p.Leu423Gln) | |
| 3 | g.69965121T>C | CA353559881 | MITF | c.1388T>C (p.Leu463Pro) c.1385T>C (p.Leu462Pro) n.1610T>C c.1361T>C (p.Leu454Pro) c.*199T>C (n.*199T>C) c.1454T>C (p.Leu485Pro) c.1133T>C (p.Leu378Pro) c.1433T>C (p.Leu478Pro) c.1436T>C (p.Leu479Pro) c.1115T>C (p.Leu372Pro) c.1280T>C (p.Leu427Pro) c.*780T>C (n.*780T>C) c.947T>C (p.Leu316Pro) c.1406T>C (p.Leu469Pro) c.1298T>C (p.Leu433Pro) c.1451T>C (p.Leu484Pro) c.1403T>C (p.Leu468Pro) c.1286T>C (p.Leu429Pro) c.1268T>C (p.Leu423Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69965121T>G | CA353559882 | MITF | c.1388T>G (p.Leu463Arg) c.1385T>G (p.Leu462Arg) n.1610T>G c.1361T>G (p.Leu454Arg) c.*199T>G (n.*199T>G) c.1454T>G (p.Leu485Arg) c.1133T>G (p.Leu378Arg) c.1433T>G (p.Leu478Arg) c.1436T>G (p.Leu479Arg) c.1115T>G (p.Leu372Arg) c.1280T>G (p.Leu427Arg) c.*780T>G (n.*780T>G) c.947T>G (p.Leu316Arg) c.1406T>G (p.Leu469Arg) c.1298T>G (p.Leu433Arg) c.1451T>G (p.Leu484Arg) c.1403T>G (p.Leu468Arg) c.1286T>G (p.Leu429Arg) c.1268T>G (p.Leu423Arg) | |
| 3 | g.69965121T= | CA1373414368 | MITF | c.1388T= (p.Leu463=) c.1385T= (p.Leu462=) n.1610T= c.1361T= (p.Leu454=) c.*199T= (n.*199T=) c.1454T= (p.Leu485=) c.1133T= (p.Leu378=) c.1433T= (p.Leu478=) c.1436T= (p.Leu479=) c.1115T= (p.Leu372=) c.1280T= (p.Leu427=) c.*780T= (n.*780T=) c.947T= (p.Leu316=) c.1406T= (p.Leu469=) c.1298T= (p.Leu433=) c.1451T= (p.Leu484=) c.1403T= (p.Leu468=) c.1286T= (p.Leu429=) c.1268T= (p.Leu423=) | |
| 3 | g.69965122G>A | CA434433808 | MITF | c.1389G>A (p.Leu463=) c.1386G>A (p.Leu462=) n.1611G>A c.1362G>A (p.Leu454=) c.*200G>A (n.*200G>A) c.1455G>A (p.Leu485=) c.1134G>A (p.Leu378=) c.1434G>A (p.Leu478=) c.1437G>A (p.Leu479=) c.1116G>A (p.Leu372=) c.1281G>A (p.Leu427=) c.*781G>A (n.*781G>A) c.948G>A (p.Leu316=) c.1407G>A (p.Leu469=) c.1299G>A (p.Leu433=) c.1452G>A (p.Leu484=) c.1404G>A (p.Leu468=) c.1287G>A (p.Leu429=) c.1269G>A (p.Leu423=) | dbSNP |
| 3 | g.69965122G>C | CA434433807 | MITF | c.1389G>C (p.Leu463=) c.1386G>C (p.Leu462=) n.1611G>C c.1362G>C (p.Leu454=) c.*200G>C (n.*200G>C) c.1455G>C (p.Leu485=) c.1134G>C (p.Leu378=) c.1434G>C (p.Leu478=) c.1437G>C (p.Leu479=) c.1116G>C (p.Leu372=) c.1281G>C (p.Leu427=) c.*781G>C (n.*781G>C) c.948G>C (p.Leu316=) c.1407G>C (p.Leu469=) c.1299G>C (p.Leu433=) c.1452G>C (p.Leu484=) c.1404G>C (p.Leu468=) c.1287G>C (p.Leu429=) c.1269G>C (p.Leu423=) | |
| 3 | g.69965122G>T | CA434433806 | MITF | c.1389G>T (p.Leu463=) c.1386G>T (p.Leu462=) n.1611G>T c.1362G>T (p.Leu454=) c.*200G>T (n.*200G>T) c.1455G>T (p.Leu485=) c.1134G>T (p.Leu378=) c.1434G>T (p.Leu478=) c.1437G>T (p.Leu479=) c.1116G>T (p.Leu372=) c.1281G>T (p.Leu427=) c.*781G>T (n.*781G>T) c.948G>T (p.Leu316=) c.1407G>T (p.Leu469=) c.1299G>T (p.Leu433=) c.1452G>T (p.Leu484=) c.1404G>T (p.Leu468=) c.1287G>T (p.Leu429=) c.1269G>T (p.Leu423=) | |
| 3 | g.69965123A= | CA1373414371 | MITF | c.1390A= (p.Met464=) c.1387A= (p.Met463=) n.1612A= c.1363A= (p.Met455=) c.*201A= (n.*201A=) c.1456A= (p.Met486=) c.1135A= (p.Met379=) c.1435A= (p.Met479=) c.1438A= (p.Met480=) c.1117A= (p.Met373=) c.1282A= (p.Met428=) c.*782A= (n.*782A=) c.949A= (p.Met317=) c.1408A= (p.Met470=) c.1300A= (p.Met434=) c.1453A= (p.Met485=) c.1405A= (p.Met469=) c.1288A= (p.Met430=) c.1270A= (p.Met424=) | |
| 3 | g.69965123A>C | CA353559883 | MITF | c.1390A>C (p.Met464Leu) c.1387A>C (p.Met463Leu) n.1612A>C c.1363A>C (p.Met455Leu) c.*201A>C (n.*201A>C) c.1456A>C (p.Met486Leu) c.1135A>C (p.Met379Leu) c.1435A>C (p.Met479Leu) c.1438A>C (p.Met480Leu) c.1117A>C (p.Met373Leu) c.1282A>C (p.Met428Leu) c.*782A>C (n.*782A>C) c.949A>C (p.Met317Leu) c.1408A>C (p.Met470Leu) c.1300A>C (p.Met434Leu) c.1453A>C (p.Met485Leu) c.1405A>C (p.Met469Leu) c.1288A>C (p.Met430Leu) c.1270A>C (p.Met424Leu) | |
| 3 | g.69965123A>G | CA2490671 | MITF | c.1390A>G (p.Met464Val) c.1387A>G (p.Met463Val) n.1612A>G c.1363A>G (p.Met455Val) c.*201A>G (n.*201A>G) c.1456A>G (p.Met486Val) c.1135A>G (p.Met379Val) c.1435A>G (p.Met479Val) c.1438A>G (p.Met480Val) c.1117A>G (p.Met373Val) c.1282A>G (p.Met428Val) c.*782A>G (n.*782A>G) c.949A>G (p.Met317Val) c.1408A>G (p.Met470Val) c.1300A>G (p.Met434Val) c.1453A>G (p.Met485Val) c.1405A>G (p.Met469Val) c.1288A>G (p.Met430Val) c.1270A>G (p.Met424Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69965123A>T | CA353559884 | MITF | c.1390A>T (p.Met464Leu) c.1387A>T (p.Met463Leu) n.1612A>T c.1363A>T (p.Met455Leu) c.*201A>T (n.*201A>T) c.1456A>T (p.Met486Leu) c.1135A>T (p.Met379Leu) c.1435A>T (p.Met479Leu) c.1438A>T (p.Met480Leu) c.1117A>T (p.Met373Leu) c.1282A>T (p.Met428Leu) c.*782A>T (n.*782A>T) c.949A>T (p.Met317Leu) c.1408A>T (p.Met470Leu) c.1300A>T (p.Met434Leu) c.1453A>T (p.Met485Leu) c.1405A>T (p.Met469Leu) c.1288A>T (p.Met430Leu) c.1270A>T (p.Met424Leu) | |
| 3 | g.69965124T>A | CA353559885 | MITF | c.1391T>A (p.Met464Lys) c.1388T>A (p.Met463Lys) n.1613T>A c.1364T>A (p.Met455Lys) c.*202T>A (n.*202T>A) c.1457T>A (p.Met486Lys) c.1136T>A (p.Met379Lys) c.1436T>A (p.Met479Lys) c.1439T>A (p.Met480Lys) c.1118T>A (p.Met373Lys) c.1283T>A (p.Met428Lys) c.*783T>A (n.*783T>A) c.950T>A (p.Met317Lys) c.1409T>A (p.Met470Lys) c.1301T>A (p.Met434Lys) c.1454T>A (p.Met485Lys) c.1406T>A (p.Met469Lys) c.1289T>A (p.Met430Lys) c.1271T>A (p.Met424Lys) | |
| 3 | g.69965124T>C | CA353559887 | MITF | c.1391T>C (p.Met464Thr) c.1388T>C (p.Met463Thr) n.1613T>C c.1364T>C (p.Met455Thr) c.*202T>C (n.*202T>C) c.1457T>C (p.Met486Thr) c.1136T>C (p.Met379Thr) c.1436T>C (p.Met479Thr) c.1439T>C (p.Met480Thr) c.1118T>C (p.Met373Thr) c.1283T>C (p.Met428Thr) c.*783T>C (n.*783T>C) c.950T>C (p.Met317Thr) c.1409T>C (p.Met470Thr) c.1301T>C (p.Met434Thr) c.1454T>C (p.Met485Thr) c.1406T>C (p.Met469Thr) c.1289T>C (p.Met430Thr) c.1271T>C (p.Met424Thr) | |
| 3 | g.69965124T>G | CA353559886 | MITF | c.1391T>G (p.Met464Arg) c.1388T>G (p.Met463Arg) n.1613T>G c.1364T>G (p.Met455Arg) c.*202T>G (n.*202T>G) c.1457T>G (p.Met486Arg) c.1136T>G (p.Met379Arg) c.1436T>G (p.Met479Arg) c.1439T>G (p.Met480Arg) c.1118T>G (p.Met373Arg) c.1283T>G (p.Met428Arg) c.*783T>G (n.*783T>G) c.950T>G (p.Met317Arg) c.1409T>G (p.Met470Arg) c.1301T>G (p.Met434Arg) c.1454T>G (p.Met485Arg) c.1406T>G (p.Met469Arg) c.1289T>G (p.Met430Arg) c.1271T>G (p.Met424Arg) | |
| 3 | g.69965125G>A | CA353559888 | MITF | c.1392G>A (p.Met464Ile) c.1389G>A (p.Met463Ile) n.1614G>A c.1365G>A (p.Met455Ile) c.*203G>A (n.*203G>A) c.1458G>A (p.Met486Ile) c.1137G>A (p.Met379Ile) c.1437G>A (p.Met479Ile) c.1440G>A (p.Met480Ile) c.1119G>A (p.Met373Ile) c.1284G>A (p.Met428Ile) c.*784G>A (n.*784G>A) c.951G>A (p.Met317Ile) c.1410G>A (p.Met470Ile) c.1302G>A (p.Met434Ile) c.1455G>A (p.Met485Ile) c.1407G>A (p.Met469Ile) c.1290G>A (p.Met430Ile) c.1272G>A (p.Met424Ile) | dbSNP gnomAD v4 |
| 3 | g.69965125G>C | CA353559890 | MITF | c.1392G>C (p.Met464Ile) c.1389G>C (p.Met463Ile) n.1614G>C c.1365G>C (p.Met455Ile) c.*203G>C (n.*203G>C) c.1458G>C (p.Met486Ile) c.1137G>C (p.Met379Ile) c.1437G>C (p.Met479Ile) c.1440G>C (p.Met480Ile) c.1119G>C (p.Met373Ile) c.1284G>C (p.Met428Ile) c.*784G>C (n.*784G>C) c.951G>C (p.Met317Ile) c.1410G>C (p.Met470Ile) c.1302G>C (p.Met434Ile) c.1455G>C (p.Met485Ile) c.1407G>C (p.Met469Ile) c.1290G>C (p.Met430Ile) c.1272G>C (p.Met424Ile) | |
| 3 | g.69965125G= | CA1373414374 | MITF | c.1392G= (p.Met464=) c.1389G= (p.Met463=) n.1614G= c.1365G= (p.Met455=) c.*203G= (n.*203G=) c.1458G= (p.Met486=) c.1137G= (p.Met379=) c.1437G= (p.Met479=) c.1440G= (p.Met480=) c.1119G= (p.Met373=) c.1284G= (p.Met428=) c.*784G= (n.*784G=) c.951G= (p.Met317=) c.1410G= (p.Met470=) c.1302G= (p.Met434=) c.1455G= (p.Met485=) c.1407G= (p.Met469=) c.1290G= (p.Met430=) c.1272G= (p.Met424=) | |
| 3 | g.69965125G>T | CA353559889 | MITF | c.1392G>T (p.Met464Ile) c.1389G>T (p.Met463Ile) n.1614G>T c.1365G>T (p.Met455Ile) c.*203G>T (n.*203G>T) c.1458G>T (p.Met486Ile) c.1137G>T (p.Met379Ile) c.1437G>T (p.Met479Ile) c.1440G>T (p.Met480Ile) c.1119G>T (p.Met373Ile) c.1284G>T (p.Met428Ile) c.*784G>T (n.*784G>T) c.951G>T (p.Met317Ile) c.1410G>T (p.Met470Ile) c.1302G>T (p.Met434Ile) c.1455G>T (p.Met485Ile) c.1407G>T (p.Met469Ile) c.1290G>T (p.Met430Ile) c.1272G>T (p.Met424Ile) | |
| 3 | g.69965126G>A | CA353559891 | MITF | c.1393G>A (p.Asp465Asn) c.1390G>A (p.Asp464Asn) n.1615G>A c.1366G>A (p.Asp456Asn) c.*204G>A (n.*204G>A) c.1459G>A (p.Asp487Asn) c.1138G>A (p.Asp380Asn) c.1438G>A (p.Asp480Asn) c.1441G>A (p.Asp481Asn) c.1120G>A (p.Asp374Asn) c.1285G>A (p.Asp429Asn) c.*785G>A (n.*785G>A) c.952G>A (p.Asp318Asn) c.1411G>A (p.Asp471Asn) c.1303G>A (p.Asp435Asn) c.1456G>A (p.Asp486Asn) c.1408G>A (p.Asp470Asn) c.1291G>A (p.Asp431Asn) c.1273G>A (p.Asp425Asn) | gnomAD v4 COSMIC |
| 3 | g.69965126G>C | CA353559893 | MITF | c.1393G>C (p.Asp465His) c.1390G>C (p.Asp464His) n.1615G>C c.1366G>C (p.Asp456His) c.*204G>C (n.*204G>C) c.1459G>C (p.Asp487His) c.1138G>C (p.Asp380His) c.1438G>C (p.Asp480His) c.1441G>C (p.Asp481His) c.1120G>C (p.Asp374His) c.1285G>C (p.Asp429His) c.*785G>C (n.*785G>C) c.952G>C (p.Asp318His) c.1411G>C (p.Asp471His) c.1303G>C (p.Asp435His) c.1456G>C (p.Asp486His) c.1408G>C (p.Asp470His) c.1291G>C (p.Asp431His) c.1273G>C (p.Asp425His) | dbSNP |
| 3 | g.69965126G>T | CA353559892 | MITF | c.1393G>T (p.Asp465Tyr) c.1390G>T (p.Asp464Tyr) n.1615G>T c.1366G>T (p.Asp456Tyr) c.*204G>T (n.*204G>T) c.1459G>T (p.Asp487Tyr) c.1138G>T (p.Asp380Tyr) c.1438G>T (p.Asp480Tyr) c.1441G>T (p.Asp481Tyr) c.1120G>T (p.Asp374Tyr) c.1285G>T (p.Asp429Tyr) c.*785G>T (n.*785G>T) c.952G>T (p.Asp318Tyr) c.1411G>T (p.Asp471Tyr) c.1303G>T (p.Asp435Tyr) c.1456G>T (p.Asp486Tyr) c.1408G>T (p.Asp470Tyr) c.1291G>T (p.Asp431Tyr) c.1273G>T (p.Asp425Tyr) | |
| 3 | g.69965127A= | CA1373414377 | MITF | c.1394A= (p.Asp465=) c.1391A= (p.Asp464=) n.1616A= c.1367A= (p.Asp456=) c.*205A= (n.*205A=) c.1460A= (p.Asp487=) c.1139A= (p.Asp380=) c.1439A= (p.Asp480=) c.1442A= (p.Asp481=) c.1121A= (p.Asp374=) c.1286A= (p.Asp429=) c.*786A= (n.*786A=) c.953A= (p.Asp318=) c.1412A= (p.Asp471=) c.1304A= (p.Asp435=) c.1457A= (p.Asp486=) c.1409A= (p.Asp470=) c.1292A= (p.Asp431=) c.1274A= (p.Asp425=) | |
| 3 | g.69965127A>C | CA353559894 | MITF | c.1394A>C (p.Asp465Ala) c.1391A>C (p.Asp464Ala) n.1616A>C c.1367A>C (p.Asp456Ala) c.*205A>C (n.*205A>C) c.1460A>C (p.Asp487Ala) c.1139A>C (p.Asp380Ala) c.1439A>C (p.Asp480Ala) c.1442A>C (p.Asp481Ala) c.1121A>C (p.Asp374Ala) c.1286A>C (p.Asp429Ala) c.*786A>C (n.*786A>C) c.953A>C (p.Asp318Ala) c.1412A>C (p.Asp471Ala) c.1304A>C (p.Asp435Ala) c.1457A>C (p.Asp486Ala) c.1409A>C (p.Asp470Ala) c.1292A>C (p.Asp431Ala) c.1274A>C (p.Asp425Ala) | dbSNP |
| 3 | g.69965127A>G | CA353559895 | MITF | c.1394A>G (p.Asp465Gly) c.1391A>G (p.Asp464Gly) n.1616A>G c.1367A>G (p.Asp456Gly) c.*205A>G (n.*205A>G) c.1460A>G (p.Asp487Gly) c.1139A>G (p.Asp380Gly) c.1439A>G (p.Asp480Gly) c.1442A>G (p.Asp481Gly) c.1121A>G (p.Asp374Gly) c.1286A>G (p.Asp429Gly) c.*786A>G (n.*786A>G) c.953A>G (p.Asp318Gly) c.1412A>G (p.Asp471Gly) c.1304A>G (p.Asp435Gly) c.1457A>G (p.Asp486Gly) c.1409A>G (p.Asp470Gly) c.1292A>G (p.Asp431Gly) c.1274A>G (p.Asp425Gly) | |
| 3 | g.69965127A>T | CA353559896 | MITF | c.1394A>T (p.Asp465Val) c.1391A>T (p.Asp464Val) n.1616A>T c.1367A>T (p.Asp456Val) c.*205A>T (n.*205A>T) c.1460A>T (p.Asp487Val) c.1139A>T (p.Asp380Val) c.1439A>T (p.Asp480Val) c.1442A>T (p.Asp481Val) c.1121A>T (p.Asp374Val) c.1286A>T (p.Asp429Val) c.*786A>T (n.*786A>T) c.953A>T (p.Asp318Val) c.1412A>T (p.Asp471Val) c.1304A>T (p.Asp435Val) c.1457A>T (p.Asp486Val) c.1409A>T (p.Asp470Val) c.1292A>T (p.Asp431Val) c.1274A>T (p.Asp425Val) | gnomAD v4 |
| 3 | g.69965128C>A | CA353559897 | MITF | c.1395C>A (p.Asp465Glu) c.1392C>A (p.Asp464Glu) n.1617C>A c.1368C>A (p.Asp456Glu) c.*206C>A (n.*206C>A) c.1461C>A (p.Asp487Glu) c.1140C>A (p.Asp380Glu) c.1440C>A (p.Asp480Glu) c.1443C>A (p.Asp481Glu) c.1122C>A (p.Asp374Glu) c.1287C>A (p.Asp429Glu) c.*787C>A (n.*787C>A) c.954C>A (p.Asp318Glu) c.1413C>A (p.Asp471Glu) c.1305C>A (p.Asp435Glu) c.1458C>A (p.Asp486Glu) c.1410C>A (p.Asp470Glu) c.1293C>A (p.Asp431Glu) c.1275C>A (p.Asp425Glu) | |
| 3 | g.69965128C= | CA1373414379 | MITF | c.1395C= (p.Asp465=) c.1392C= (p.Asp464=) n.1617C= c.1368C= (p.Asp456=) c.*206C= (n.*206C=) c.1461C= (p.Asp487=) c.1140C= (p.Asp380=) c.1440C= (p.Asp480=) c.1443C= (p.Asp481=) c.1122C= (p.Asp374=) c.1287C= (p.Asp429=) c.*787C= (n.*787C=) c.954C= (p.Asp318=) c.1413C= (p.Asp471=) c.1305C= (p.Asp435=) c.1458C= (p.Asp486=) c.1410C= (p.Asp470=) c.1293C= (p.Asp431=) c.1275C= (p.Asp425=) | |
| 3 | g.69965128C>G | CA353559898 | MITF | c.1395C>G (p.Asp465Glu) c.1392C>G (p.Asp464Glu) n.1617C>G c.1368C>G (p.Asp456Glu) c.*206C>G (n.*206C>G) c.1461C>G (p.Asp487Glu) c.1140C>G (p.Asp380Glu) c.1440C>G (p.Asp480Glu) c.1443C>G (p.Asp481Glu) c.1122C>G (p.Asp374Glu) c.1287C>G (p.Asp429Glu) c.*787C>G (n.*787C>G) c.954C>G (p.Asp318Glu) c.1413C>G (p.Asp471Glu) c.1305C>G (p.Asp435Glu) c.1458C>G (p.Asp486Glu) c.1410C>G (p.Asp470Glu) c.1293C>G (p.Asp431Glu) c.1275C>G (p.Asp425Glu) | |
| 3 | g.69965128C>T | CA2490672 | MITF | c.1395C>T (p.Asp465=) c.1392C>T (p.Asp464=) n.1617C>T c.1368C>T (p.Asp456=) c.*206C>T (n.*206C>T) c.1461C>T (p.Asp487=) c.1140C>T (p.Asp380=) c.1440C>T (p.Asp480=) c.1443C>T (p.Asp481=) c.1122C>T (p.Asp374=) c.1287C>T (p.Asp429=) c.*787C>T (n.*787C>T) c.954C>T (p.Asp318=) c.1413C>T (p.Asp471=) c.1305C>T (p.Asp435=) c.1458C>T (p.Asp486=) c.1410C>T (p.Asp470=) c.1293C>T (p.Asp431=) c.1275C>T (p.Asp425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965129G>A | CA2490673 | MITF | c.1396G>A (p.Asp466Asn) c.1393G>A (p.Asp465Asn) n.1618G>A c.1369G>A (p.Asp457Asn) c.*207G>A (n.*207G>A) c.1462G>A (p.Asp488Asn) c.1141G>A (p.Asp381Asn) c.1441G>A (p.Asp481Asn) c.1444G>A (p.Asp482Asn) c.1123G>A (p.Asp375Asn) c.1288G>A (p.Asp430Asn) c.*788G>A (n.*788G>A) c.955G>A (p.Asp319Asn) c.1414G>A (p.Asp472Asn) c.1306G>A (p.Asp436Asn) c.1459G>A (p.Asp487Asn) c.1411G>A (p.Asp471Asn) c.1294G>A (p.Asp432Asn) c.1276G>A (p.Asp426Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69965129G>C | CA353559899 | MITF | c.1396G>C (p.Asp466His) c.1393G>C (p.Asp465His) n.1618G>C c.1369G>C (p.Asp457His) c.*207G>C (n.*207G>C) c.1462G>C (p.Asp488His) c.1141G>C (p.Asp381His) c.1441G>C (p.Asp481His) c.1444G>C (p.Asp482His) c.1123G>C (p.Asp375His) c.1288G>C (p.Asp430His) c.*788G>C (n.*788G>C) c.955G>C (p.Asp319His) c.1414G>C (p.Asp472His) c.1306G>C (p.Asp436His) c.1459G>C (p.Asp487His) c.1411G>C (p.Asp471His) c.1294G>C (p.Asp432His) c.1276G>C (p.Asp426His) | dbSNP |
| 3 | g.69965129G= | CA1373414382 | MITF | c.1396G= (p.Asp466=) c.1393G= (p.Asp465=) n.1618G= c.1369G= (p.Asp457=) c.*207G= (n.*207G=) c.1462G= (p.Asp488=) c.1141G= (p.Asp381=) c.1441G= (p.Asp481=) c.1444G= (p.Asp482=) c.1123G= (p.Asp375=) c.1288G= (p.Asp430=) c.*788G= (n.*788G=) c.955G= (p.Asp319=) c.1414G= (p.Asp472=) c.1306G= (p.Asp436=) c.1459G= (p.Asp487=) c.1411G= (p.Asp471=) c.1294G= (p.Asp432=) c.1276G= (p.Asp426=) | |
| 3 | g.69965129G>T | CA353559900 | MITF | c.1396G>T (p.Asp466Tyr) c.1393G>T (p.Asp465Tyr) n.1618G>T c.1369G>T (p.Asp457Tyr) c.*207G>T (n.*207G>T) c.1462G>T (p.Asp488Tyr) c.1141G>T (p.Asp381Tyr) c.1441G>T (p.Asp481Tyr) c.1444G>T (p.Asp482Tyr) c.1123G>T (p.Asp375Tyr) c.1288G>T (p.Asp430Tyr) c.*788G>T (n.*788G>T) c.955G>T (p.Asp319Tyr) c.1414G>T (p.Asp472Tyr) c.1306G>T (p.Asp436Tyr) c.1459G>T (p.Asp487Tyr) c.1411G>T (p.Asp471Tyr) c.1294G>T (p.Asp432Tyr) c.1276G>T (p.Asp426Tyr) | |
| 3 | g.69965130A= | CA1373414388 | MITF | c.1397A= (p.Asp466=) c.1394A= (p.Asp465=) n.1619A= c.1370A= (p.Asp457=) c.*208A= (n.*208A=) c.1463A= (p.Asp488=) c.1142A= (p.Asp381=) c.1442A= (p.Asp481=) c.1445A= (p.Asp482=) c.1124A= (p.Asp375=) c.1289A= (p.Asp430=) c.*789A= (n.*789A=) c.956A= (p.Asp319=) c.1415A= (p.Asp472=) c.1307A= (p.Asp436=) c.1460A= (p.Asp487=) c.1412A= (p.Asp471=) c.1295A= (p.Asp432=) c.1277A= (p.Asp426=) | |
| 3 | g.69965130A>C | CA353559901 | MITF | c.1397A>C (p.Asp466Ala) c.1394A>C (p.Asp465Ala) n.1619A>C c.1370A>C (p.Asp457Ala) c.*208A>C (n.*208A>C) c.1463A>C (p.Asp488Ala) c.1142A>C (p.Asp381Ala) c.1442A>C (p.Asp481Ala) c.1445A>C (p.Asp482Ala) c.1124A>C (p.Asp375Ala) c.1289A>C (p.Asp430Ala) c.*789A>C (n.*789A>C) c.956A>C (p.Asp319Ala) c.1415A>C (p.Asp472Ala) c.1307A>C (p.Asp436Ala) c.1460A>C (p.Asp487Ala) c.1412A>C (p.Asp471Ala) c.1295A>C (p.Asp432Ala) c.1277A>C (p.Asp426Ala) | |
| 3 | g.69965130A>G | CA353559902 | MITF | c.1397A>G (p.Asp466Gly) c.1394A>G (p.Asp465Gly) n.1619A>G c.1370A>G (p.Asp457Gly) c.*208A>G (n.*208A>G) c.1463A>G (p.Asp488Gly) c.1142A>G (p.Asp381Gly) c.1442A>G (p.Asp481Gly) c.1445A>G (p.Asp482Gly) c.1124A>G (p.Asp375Gly) c.1289A>G (p.Asp430Gly) c.*789A>G (n.*789A>G) c.956A>G (p.Asp319Gly) c.1415A>G (p.Asp472Gly) c.1307A>G (p.Asp436Gly) c.1460A>G (p.Asp487Gly) c.1412A>G (p.Asp471Gly) c.1295A>G (p.Asp432Gly) c.1277A>G (p.Asp426Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965130A>T | CA353559903 | MITF | c.1397A>T (p.Asp466Val) c.1394A>T (p.Asp465Val) n.1619A>T c.1370A>T (p.Asp457Val) c.*208A>T (n.*208A>T) c.1463A>T (p.Asp488Val) c.1142A>T (p.Asp381Val) c.1442A>T (p.Asp481Val) c.1445A>T (p.Asp482Val) c.1124A>T (p.Asp375Val) c.1289A>T (p.Asp430Val) c.*789A>T (n.*789A>T) c.956A>T (p.Asp319Val) c.1415A>T (p.Asp472Val) c.1307A>T (p.Asp436Val) c.1460A>T (p.Asp487Val) c.1412A>T (p.Asp471Val) c.1295A>T (p.Asp432Val) c.1277A>T (p.Asp426Val) | |
| 3 | g.69965131C>A | CA2490674 | MITF | c.1398C>A (p.Asp466Glu) c.1395C>A (p.Asp465Glu) n.1620C>A c.1371C>A (p.Asp457Glu) c.*209C>A (n.*209C>A) c.1464C>A (p.Asp488Glu) c.1143C>A (p.Asp381Glu) c.1443C>A (p.Asp481Glu) c.1446C>A (p.Asp482Glu) c.1125C>A (p.Asp375Glu) c.1290C>A (p.Asp430Glu) c.*790C>A (n.*790C>A) c.957C>A (p.Asp319Glu) c.1416C>A (p.Asp472Glu) c.1308C>A (p.Asp436Glu) c.1461C>A (p.Asp487Glu) c.1413C>A (p.Asp471Glu) c.1296C>A (p.Asp432Glu) c.1278C>A (p.Asp426Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965131C= | CA1373414391 | MITF | c.1398C= (p.Asp466=) c.1395C= (p.Asp465=) n.1620C= c.1371C= (p.Asp457=) c.*209C= (n.*209C=) c.1464C= (p.Asp488=) c.1143C= (p.Asp381=) c.1443C= (p.Asp481=) c.1446C= (p.Asp482=) c.1125C= (p.Asp375=) c.1290C= (p.Asp430=) c.*790C= (n.*790C=) c.957C= (p.Asp319=) c.1416C= (p.Asp472=) c.1308C= (p.Asp436=) c.1461C= (p.Asp487=) c.1413C= (p.Asp471=) c.1296C= (p.Asp432=) c.1278C= (p.Asp426=) | |
| 3 | g.69965131C>G | CA353559904 | MITF | c.1398C>G (p.Asp466Glu) c.1395C>G (p.Asp465Glu) n.1620C>G c.1371C>G (p.Asp457Glu) c.*209C>G (n.*209C>G) c.1464C>G (p.Asp488Glu) c.1143C>G (p.Asp381Glu) c.1443C>G (p.Asp481Glu) c.1446C>G (p.Asp482Glu) c.1125C>G (p.Asp375Glu) c.1290C>G (p.Asp430Glu) c.*790C>G (n.*790C>G) c.957C>G (p.Asp319Glu) c.1416C>G (p.Asp472Glu) c.1308C>G (p.Asp436Glu) c.1461C>G (p.Asp487Glu) c.1413C>G (p.Asp471Glu) c.1296C>G (p.Asp432Glu) c.1278C>G (p.Asp426Glu) | |
| 3 | g.69965131C>T | CA2490675 | MITF | c.1398C>T (p.Asp466=) c.1395C>T (p.Asp465=) n.1620C>T c.1371C>T (p.Asp457=) c.*209C>T (n.*209C>T) c.1464C>T (p.Asp488=) c.1143C>T (p.Asp381=) c.1443C>T (p.Asp481=) c.1446C>T (p.Asp482=) c.1125C>T (p.Asp375=) c.1290C>T (p.Asp430=) c.*790C>T (n.*790C>T) c.957C>T (p.Asp319=) c.1416C>T (p.Asp472=) c.1308C>T (p.Asp436=) c.1461C>T (p.Asp487=) c.1413C>T (p.Asp471=) c.1296C>T (p.Asp432=) c.1278C>T (p.Asp426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69965132A= | CA1373414396 | MITF | c.1399A= (p.Thr467=) c.1396A= (p.Thr466=) n.1621A= c.1372A= (p.Thr458=) c.*210A= (n.*210A=) c.1465A= (p.Thr489=) c.1144A= (p.Thr382=) c.1444A= (p.Thr482=) c.1447A= (p.Thr483=) c.1126A= (p.Thr376=) c.1291A= (p.Thr431=) c.*791A= (n.*791A=) c.958A= (p.Thr320=) c.1417A= (p.Thr473=) c.1309A= (p.Thr437=) c.1462A= (p.Thr488=) c.1414A= (p.Thr472=) c.1297A= (p.Thr433=) c.1279A= (p.Thr427=) | |
| 3 | g.69965132A>C | CA353559905 | MITF | c.1399A>C (p.Thr467Pro) c.1396A>C (p.Thr466Pro) n.1621A>C c.1372A>C (p.Thr458Pro) c.*210A>C (n.*210A>C) c.1465A>C (p.Thr489Pro) c.1144A>C (p.Thr382Pro) c.1444A>C (p.Thr482Pro) c.1447A>C (p.Thr483Pro) c.1126A>C (p.Thr376Pro) c.1291A>C (p.Thr431Pro) c.*791A>C (n.*791A>C) c.958A>C (p.Thr320Pro) c.1417A>C (p.Thr473Pro) c.1309A>C (p.Thr437Pro) c.1462A>C (p.Thr488Pro) c.1414A>C (p.Thr472Pro) c.1297A>C (p.Thr433Pro) c.1279A>C (p.Thr427Pro) | |
| 3 | g.69965132A>G | CA353559906 | MITF | c.1399A>G (p.Thr467Ala) c.1396A>G (p.Thr466Ala) n.1621A>G c.1372A>G (p.Thr458Ala) c.*210A>G (n.*210A>G) c.1465A>G (p.Thr489Ala) c.1144A>G (p.Thr382Ala) c.1444A>G (p.Thr482Ala) c.1447A>G (p.Thr483Ala) c.1126A>G (p.Thr376Ala) c.1291A>G (p.Thr431Ala) c.*791A>G (n.*791A>G) c.958A>G (p.Thr320Ala) c.1417A>G (p.Thr473Ala) c.1309A>G (p.Thr437Ala) c.1462A>G (p.Thr488Ala) c.1414A>G (p.Thr472Ala) c.1297A>G (p.Thr433Ala) c.1279A>G (p.Thr427Ala) | |
| 3 | g.69965132A>T | CA353559907 | MITF | c.1399A>T (p.Thr467Ser) c.1396A>T (p.Thr466Ser) n.1621A>T c.1372A>T (p.Thr458Ser) c.*210A>T (n.*210A>T) c.1465A>T (p.Thr489Ser) c.1144A>T (p.Thr382Ser) c.1444A>T (p.Thr482Ser) c.1447A>T (p.Thr483Ser) c.1126A>T (p.Thr376Ser) c.1291A>T (p.Thr431Ser) c.*791A>T (n.*791A>T) c.958A>T (p.Thr320Ser) c.1417A>T (p.Thr473Ser) c.1309A>T (p.Thr437Ser) c.1462A>T (p.Thr488Ser) c.1414A>T (p.Thr472Ser) c.1297A>T (p.Thr433Ser) c.1279A>T (p.Thr427Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |