Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69964941_69964962dupCA2573137438MITFc.1208_1229dup (p.Ser410ArgfsTer5)
c.1205_1226dup (p.Ser409ArgfsTer5)
n.1430_1451dup
c.1181_1202dup (p.Ser401ArgfsTer5)
c.*19_*40dup (n.*19_*40dup)
c.1274_1295dup (p.Ser432ArgfsTer5)
c.953_974dup (p.Ser325ArgfsTer5)
c.1253_1274dup (p.Ser425ArgfsTer5)
c.1256_1277dup (p.Ser426ArgfsTer5)
c.935_956dup (p.Ser319ArgfsTer5)
c.1100_1121dup (p.Ser374ArgfsTer5)
c.*600_*621dup (n.*600_*621dup)
c.767_788dup (p.Ser263ArgfsTer5)
c.1226_1247dup (p.Ser416ArgfsTer5)
c.1118_1139dup (p.Ser380ArgfsTer5)
c.1271_1292dup (p.Ser431ArgfsTer5)
c.1223_1244dup (p.Ser415ArgfsTer5)
c.1106_1127dup (p.Ser376ArgfsTer5)
c.1088_1109dup (p.Ser370ArgfsTer5)
 ClinVar dbSNP
3g.69964940G>ACA128649MITFc.1207G>A (p.Glu403Lys)
c.1204G>A (p.Glu402Lys)
n.1429G>A
c.1180G>A (p.Glu394Lys)
c.*18G>A (n.*18G>A)
c.1273G>A (p.Glu425Lys)
c.952G>A (p.Glu318Lys)
c.1252G>A (p.Glu418Lys)
c.1255G>A (p.Glu419Lys)
c.934G>A (p.Glu312Lys)
c.1099G>A (p.Glu367Lys)
c.*599G>A (n.*599G>A)
c.766G>A (p.Glu256Lys)
c.1225G>A (p.Glu409Lys)
c.1117G>A (p.Glu373Lys)
c.1270G>A (p.Glu424Lys)
c.1222G>A (p.Glu408Lys)
c.1105G>A (p.Glu369Lys)
c.1087G>A (p.Glu363Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964940G>CCA353559499MITFc.1207G>C (p.Glu403Gln)
c.1204G>C (p.Glu402Gln)
n.1429G>C
c.1180G>C (p.Glu394Gln)
c.*18G>C (n.*18G>C)
c.1273G>C (p.Glu425Gln)
c.952G>C (p.Glu318Gln)
c.1252G>C (p.Glu418Gln)
c.1255G>C (p.Glu419Gln)
c.934G>C (p.Glu312Gln)
c.1099G>C (p.Glu367Gln)
c.*599G>C (n.*599G>C)
c.766G>C (p.Glu256Gln)
c.1225G>C (p.Glu409Gln)
c.1117G>C (p.Glu373Gln)
c.1270G>C (p.Glu424Gln)
c.1222G>C (p.Glu408Gln)
c.1105G>C (p.Glu369Gln)
c.1087G>C (p.Glu363Gln)
3g.69964940G=CA1373414027MITFc.1207G= (p.Glu403=)
c.1204G= (p.Glu402=)
n.1429G=
c.1180G= (p.Glu394=)
c.*18G= (n.*18G=)
c.1273G= (p.Glu425=)
c.952G= (p.Glu318=)
c.1252G= (p.Glu418=)
c.1255G= (p.Glu419=)
c.934G= (p.Glu312=)
c.1099G= (p.Glu367=)
c.*599G= (n.*599G=)
c.766G= (p.Glu256=)
c.1225G= (p.Glu409=)
c.1117G= (p.Glu373=)
c.1270G= (p.Glu424=)
c.1222G= (p.Glu408=)
c.1105G= (p.Glu369=)
c.1087G= (p.Glu363=)
3g.69964940G>TCA353559498MITFc.1207G>T (p.Glu403Ter)
c.1204G>T (p.Glu402Ter)
n.1429G>T
c.1180G>T (p.Glu394Ter)
c.*18G>T (n.*18G>T)
c.1273G>T (p.Glu425Ter)
c.952G>T (p.Glu318Ter)
c.1252G>T (p.Glu418Ter)
c.1255G>T (p.Glu419Ter)
c.934G>T (p.Glu312Ter)
c.1099G>T (p.Glu367Ter)
c.*599G>T (n.*599G>T)
c.766G>T (p.Glu256Ter)
c.1225G>T (p.Glu409Ter)
c.1117G>T (p.Glu373Ter)
c.1270G>T (p.Glu424Ter)
c.1222G>T (p.Glu408Ter)
c.1105G>T (p.Glu369Ter)
c.1087G>T (p.Glu363Ter)
 ClinVar dbSNP
3g.69964941A>CCA353559500MITFc.1208A>C (p.Glu403Ala)
c.1205A>C (p.Glu402Ala)
n.1430A>C
c.1181A>C (p.Glu394Ala)
c.*19A>C (n.*19A>C)
c.1274A>C (p.Glu425Ala)
c.953A>C (p.Glu318Ala)
c.1253A>C (p.Glu418Ala)
c.1256A>C (p.Glu419Ala)
c.935A>C (p.Glu312Ala)
c.1100A>C (p.Glu367Ala)
c.*600A>C (n.*600A>C)
c.767A>C (p.Glu256Ala)
c.1226A>C (p.Glu409Ala)
c.1118A>C (p.Glu373Ala)
c.1271A>C (p.Glu424Ala)
c.1223A>C (p.Glu408Ala)
c.1106A>C (p.Glu369Ala)
c.1088A>C (p.Glu363Ala)
3g.69964941A>GCA353559501MITFc.1208A>G (p.Glu403Gly)
c.1205A>G (p.Glu402Gly)
n.1430A>G
c.1181A>G (p.Glu394Gly)
c.*19A>G (n.*19A>G)
c.1274A>G (p.Glu425Gly)
c.953A>G (p.Glu318Gly)
c.1253A>G (p.Glu418Gly)
c.1256A>G (p.Glu419Gly)
c.935A>G (p.Glu312Gly)
c.1100A>G (p.Glu367Gly)
c.*600A>G (n.*600A>G)
c.767A>G (p.Glu256Gly)
c.1226A>G (p.Glu409Gly)
c.1118A>G (p.Glu373Gly)
c.1271A>G (p.Glu424Gly)
c.1223A>G (p.Glu408Gly)
c.1106A>G (p.Glu369Gly)
c.1088A>G (p.Glu363Gly)
3g.69964941A>TCA353559502MITFc.1208A>T (p.Glu403Val)
c.1205A>T (p.Glu402Val)
n.1430A>T
c.1181A>T (p.Glu394Val)
c.*19A>T (n.*19A>T)
c.1274A>T (p.Glu425Val)
c.953A>T (p.Glu318Val)
c.1253A>T (p.Glu418Val)
c.1256A>T (p.Glu419Val)
c.935A>T (p.Glu312Val)
c.1100A>T (p.Glu367Val)
c.*600A>T (n.*600A>T)
c.767A>T (p.Glu256Val)
c.1226A>T (p.Glu409Val)
c.1118A>T (p.Glu373Val)
c.1271A>T (p.Glu424Val)
c.1223A>T (p.Glu408Val)
c.1106A>T (p.Glu369Val)
c.1088A>T (p.Glu363Val)
3g.69964942A=CA1373414032MITFc.1209A= (p.Glu403=)
c.1206A= (p.Glu402=)
n.1431A=
c.1182A= (p.Glu394=)
c.*20A= (n.*20A=)
c.1275A= (p.Glu425=)
c.954A= (p.Glu318=)
c.1254A= (p.Glu418=)
c.1257A= (p.Glu419=)
c.936A= (p.Glu312=)
c.1101A= (p.Glu367=)
c.*601A= (n.*601A=)
c.768A= (p.Glu256=)
c.1227A= (p.Glu409=)
c.1119A= (p.Glu373=)
c.1272A= (p.Glu424=)
c.1224A= (p.Glu408=)
c.1107A= (p.Glu369=)
c.1089A= (p.Glu363=)
3g.69964942A>CCA353559503MITFc.1209A>C (p.Glu403Asp)
c.1206A>C (p.Glu402Asp)
n.1431A>C
c.1182A>C (p.Glu394Asp)
c.*20A>C (n.*20A>C)
c.1275A>C (p.Glu425Asp)
c.954A>C (p.Glu318Asp)
c.1254A>C (p.Glu418Asp)
c.1257A>C (p.Glu419Asp)
c.936A>C (p.Glu312Asp)
c.1101A>C (p.Glu367Asp)
c.*601A>C (n.*601A>C)
c.768A>C (p.Glu256Asp)
c.1227A>C (p.Glu409Asp)
c.1119A>C (p.Glu373Asp)
c.1272A>C (p.Glu424Asp)
c.1224A>C (p.Glu408Asp)
c.1107A>C (p.Glu369Asp)
c.1089A>C (p.Glu363Asp)
 dbSNP
3g.69964942A>GCA434433608MITFc.1209A>G (p.Glu403=)
c.1206A>G (p.Glu402=)
n.1431A>G
c.1182A>G (p.Glu394=)
c.*20A>G (n.*20A>G)
c.1275A>G (p.Glu425=)
c.954A>G (p.Glu318=)
c.1254A>G (p.Glu418=)
c.1257A>G (p.Glu419=)
c.936A>G (p.Glu312=)
c.1101A>G (p.Glu367=)
c.*601A>G (n.*601A>G)
c.768A>G (p.Glu256=)
c.1227A>G (p.Glu409=)
c.1119A>G (p.Glu373=)
c.1272A>G (p.Glu424=)
c.1224A>G (p.Glu408=)
c.1107A>G (p.Glu369=)
c.1089A>G (p.Glu363=)
 dbSNP gnomAD v4
3g.69964942A>TCA353559504MITFc.1209A>T (p.Glu403Asp)
c.1206A>T (p.Glu402Asp)
n.1431A>T
c.1182A>T (p.Glu394Asp)
c.*20A>T (n.*20A>T)
c.1275A>T (p.Glu425Asp)
c.954A>T (p.Glu318Asp)
c.1254A>T (p.Glu418Asp)
c.1257A>T (p.Glu419Asp)
c.936A>T (p.Glu312Asp)
c.1101A>T (p.Glu367Asp)
c.*601A>T (n.*601A>T)
c.768A>T (p.Glu256Asp)
c.1227A>T (p.Glu409Asp)
c.1119A>T (p.Glu373Asp)
c.1272A>T (p.Glu424Asp)
c.1224A>T (p.Glu408Asp)
c.1107A>T (p.Glu369Asp)
c.1089A>T (p.Glu363Asp)
3g.69964943C>ACA2490633MITFc.1210C>A (p.Pro404Thr)
c.1207C>A (p.Pro403Thr)
n.1432C>A
c.1183C>A (p.Pro395Thr)
c.*21C>A (n.*21C>A)
c.1276C>A (p.Pro426Thr)
c.955C>A (p.Pro319Thr)
c.1255C>A (p.Pro419Thr)
c.1258C>A (p.Pro420Thr)
c.937C>A (p.Pro313Thr)
c.1102C>A (p.Pro368Thr)
c.*602C>A (n.*602C>A)
c.769C>A (p.Pro257Thr)
c.1228C>A (p.Pro410Thr)
c.1120C>A (p.Pro374Thr)
c.1273C>A (p.Pro425Thr)
c.1225C>A (p.Pro409Thr)
c.1108C>A (p.Pro370Thr)
c.1090C>A (p.Pro364Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964943C=CA1373414036MITFc.1210C= (p.Pro404=)
c.1207C= (p.Pro403=)
n.1432C=
c.1183C= (p.Pro395=)
c.*21C= (n.*21C=)
c.1276C= (p.Pro426=)
c.955C= (p.Pro319=)
c.1255C= (p.Pro419=)
c.1258C= (p.Pro420=)
c.937C= (p.Pro313=)
c.1102C= (p.Pro368=)
c.*602C= (n.*602C=)
c.769C= (p.Pro257=)
c.1228C= (p.Pro410=)
c.1120C= (p.Pro374=)
c.1273C= (p.Pro425=)
c.1225C= (p.Pro409=)
c.1108C= (p.Pro370=)
c.1090C= (p.Pro364=)
3g.69964943C>GCA353559505MITFc.1210C>G (p.Pro404Ala)
c.1207C>G (p.Pro403Ala)
n.1432C>G
c.1183C>G (p.Pro395Ala)
c.*21C>G (n.*21C>G)
c.1276C>G (p.Pro426Ala)
c.955C>G (p.Pro319Ala)
c.1255C>G (p.Pro419Ala)
c.1258C>G (p.Pro420Ala)
c.937C>G (p.Pro313Ala)
c.1102C>G (p.Pro368Ala)
c.*602C>G (n.*602C>G)
c.769C>G (p.Pro257Ala)
c.1228C>G (p.Pro410Ala)
c.1120C>G (p.Pro374Ala)
c.1273C>G (p.Pro425Ala)
c.1225C>G (p.Pro409Ala)
c.1108C>G (p.Pro370Ala)
c.1090C>G (p.Pro364Ala)
3g.69964943C>TCA2490632MITFc.1210C>T (p.Pro404Ser)
c.1207C>T (p.Pro403Ser)
n.1432C>T
c.1183C>T (p.Pro395Ser)
c.*21C>T (n.*21C>T)
c.1276C>T (p.Pro426Ser)
c.955C>T (p.Pro319Ser)
c.1255C>T (p.Pro419Ser)
c.1258C>T (p.Pro420Ser)
c.937C>T (p.Pro313Ser)
c.1102C>T (p.Pro368Ser)
c.*602C>T (n.*602C>T)
c.769C>T (p.Pro257Ser)
c.1228C>T (p.Pro410Ser)
c.1120C>T (p.Pro374Ser)
c.1273C>T (p.Pro425Ser)
c.1225C>T (p.Pro409Ser)
c.1108C>T (p.Pro370Ser)
c.1090C>T (p.Pro364Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964944C>ACA353559506MITFc.1211C>A (p.Pro404His)
c.1208C>A (p.Pro403His)
n.1433C>A
c.1184C>A (p.Pro395His)
c.*22C>A (n.*22C>A)
c.1277C>A (p.Pro426His)
c.956C>A (p.Pro319His)
c.1256C>A (p.Pro419His)
c.1259C>A (p.Pro420His)
c.938C>A (p.Pro313His)
c.1103C>A (p.Pro368His)
c.*603C>A (n.*603C>A)
c.770C>A (p.Pro257His)
c.1229C>A (p.Pro410His)
c.1121C>A (p.Pro374His)
c.1274C>A (p.Pro425His)
c.1226C>A (p.Pro409His)
c.1109C>A (p.Pro370His)
c.1091C>A (p.Pro364His)
 dbSNP gnomAD v4
3g.69964944C=CA1373414040MITFc.1211C= (p.Pro404=)
c.1208C= (p.Pro403=)
n.1433C=
c.1184C= (p.Pro395=)
c.*22C= (n.*22C=)
c.1277C= (p.Pro426=)
c.956C= (p.Pro319=)
c.1256C= (p.Pro419=)
c.1259C= (p.Pro420=)
c.938C= (p.Pro313=)
c.1103C= (p.Pro368=)
c.*603C= (n.*603C=)
c.770C= (p.Pro257=)
c.1229C= (p.Pro410=)
c.1121C= (p.Pro374=)
c.1274C= (p.Pro425=)
c.1226C= (p.Pro409=)
c.1109C= (p.Pro370=)
c.1091C= (p.Pro364=)
3g.69964944C>GCA353559507MITFc.1211C>G (p.Pro404Arg)
c.1208C>G (p.Pro403Arg)
n.1433C>G
c.1184C>G (p.Pro395Arg)
c.*22C>G (n.*22C>G)
c.1277C>G (p.Pro426Arg)
c.956C>G (p.Pro319Arg)
c.1256C>G (p.Pro419Arg)
c.1259C>G (p.Pro420Arg)
c.938C>G (p.Pro313Arg)
c.1103C>G (p.Pro368Arg)
c.*603C>G (n.*603C>G)
c.770C>G (p.Pro257Arg)
c.1229C>G (p.Pro410Arg)
c.1121C>G (p.Pro374Arg)
c.1274C>G (p.Pro425Arg)
c.1226C>G (p.Pro409Arg)
c.1109C>G (p.Pro370Arg)
c.1091C>G (p.Pro364Arg)
3g.69964944C>TCA353559508MITFc.1211C>T (p.Pro404Leu)
c.1208C>T (p.Pro403Leu)
n.1433C>T
c.1184C>T (p.Pro395Leu)
c.*22C>T (n.*22C>T)
c.1277C>T (p.Pro426Leu)
c.956C>T (p.Pro319Leu)
c.1256C>T (p.Pro419Leu)
c.1259C>T (p.Pro420Leu)
c.938C>T (p.Pro313Leu)
c.1103C>T (p.Pro368Leu)
c.*603C>T (n.*603C>T)
c.770C>T (p.Pro257Leu)
c.1229C>T (p.Pro410Leu)
c.1121C>T (p.Pro374Leu)
c.1274C>T (p.Pro425Leu)
c.1226C>T (p.Pro409Leu)
c.1109C>T (p.Pro370Leu)
c.1091C>T (p.Pro364Leu)
 gnomAD v4
3g.69964945C>ACA434433612MITFc.1212C>A (p.Pro404=)
c.1209C>A (p.Pro403=)
n.1434C>A
c.1185C>A (p.Pro395=)
c.*23C>A (n.*23C>A)
c.1278C>A (p.Pro426=)
c.957C>A (p.Pro319=)
c.1257C>A (p.Pro419=)
c.1260C>A (p.Pro420=)
c.939C>A (p.Pro313=)
c.1104C>A (p.Pro368=)
c.*604C>A (n.*604C>A)
c.771C>A (p.Pro257=)
c.1230C>A (p.Pro410=)
c.1122C>A (p.Pro374=)
c.1275C>A (p.Pro425=)
c.1227C>A (p.Pro409=)
c.1110C>A (p.Pro370=)
c.1092C>A (p.Pro364=)
 dbSNP gnomAD v3 gnomAD v4
3g.69964945C=CA1373414043MITFc.1212C= (p.Pro404=)
c.1209C= (p.Pro403=)
n.1434C=
c.1185C= (p.Pro395=)
c.*23C= (n.*23C=)
c.1278C= (p.Pro426=)
c.957C= (p.Pro319=)
c.1257C= (p.Pro419=)
c.1260C= (p.Pro420=)
c.939C= (p.Pro313=)
c.1104C= (p.Pro368=)
c.*604C= (n.*604C=)
c.771C= (p.Pro257=)
c.1230C= (p.Pro410=)
c.1122C= (p.Pro374=)
c.1275C= (p.Pro425=)
c.1227C= (p.Pro409=)
c.1110C= (p.Pro370=)
c.1092C= (p.Pro364=)
3g.69964945C>GCA434433610MITFc.1212C>G (p.Pro404=)
c.1209C>G (p.Pro403=)
n.1434C>G
c.1185C>G (p.Pro395=)
c.*23C>G (n.*23C>G)
c.1278C>G (p.Pro426=)
c.957C>G (p.Pro319=)
c.1257C>G (p.Pro419=)
c.1260C>G (p.Pro420=)
c.939C>G (p.Pro313=)
c.1104C>G (p.Pro368=)
c.*604C>G (n.*604C>G)
c.771C>G (p.Pro257=)
c.1230C>G (p.Pro410=)
c.1122C>G (p.Pro374=)
c.1275C>G (p.Pro425=)
c.1227C>G (p.Pro409=)
c.1110C>G (p.Pro370=)
c.1092C>G (p.Pro364=)
 dbSNP
3g.69964945C>TCA434433611MITFc.1212C>T (p.Pro404=)
c.1209C>T (p.Pro403=)
n.1434C>T
c.1185C>T (p.Pro395=)
c.*23C>T (n.*23C>T)
c.1278C>T (p.Pro426=)
c.957C>T (p.Pro319=)
c.1257C>T (p.Pro419=)
c.1260C>T (p.Pro420=)
c.939C>T (p.Pro313=)
c.1104C>T (p.Pro368=)
c.*604C>T (n.*604C>T)
c.771C>T (p.Pro257=)
c.1230C>T (p.Pro410=)
c.1122C>T (p.Pro374=)
c.1275C>T (p.Pro425=)
c.1227C>T (p.Pro409=)
c.1110C>T (p.Pro370=)
c.1092C>T (p.Pro364=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964945_69964947delCA2549910303MITFc.1212_1214del (p.Val405del)
c.1209_1211del (p.Val404del)
n.1434_1436del
c.1185_1187del (p.Val396del)
c.*23_*25del (n.*23_*25del)
c.1278_1280del (p.Val427del)
c.957_959del (p.Val320del)
c.1257_1259del (p.Val420del)
c.1260_1262del (p.Val421del)
c.939_941del (p.Val314del)
c.1104_1106del (p.Val369del)
c.*604_*606del (n.*604_*606del)
c.771_773del (p.Val258del)
c.1230_1232del (p.Val411del)
c.1122_1124del (p.Val375del)
c.1275_1277del (p.Val426del)
c.1227_1229del (p.Val410del)
c.1110_1112del (p.Val371del)
c.1092_1094del (p.Val365del)
3g.69964946G>ACA2490634MITFc.1213G>A (p.Val405Ile)
c.1210G>A (p.Val404Ile)
n.1435G>A
c.1186G>A (p.Val396Ile)
c.*24G>A (n.*24G>A)
c.1279G>A (p.Val427Ile)
c.958G>A (p.Val320Ile)
c.1258G>A (p.Val420Ile)
c.1261G>A (p.Val421Ile)
c.940G>A (p.Val314Ile)
c.1105G>A (p.Val369Ile)
c.*605G>A (n.*605G>A)
c.772G>A (p.Val258Ile)
c.1231G>A (p.Val411Ile)
c.1123G>A (p.Val375Ile)
c.1276G>A (p.Val426Ile)
c.1228G>A (p.Val410Ile)
c.1111G>A (p.Val371Ile)
c.1093G>A (p.Val365Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964946G>CCA353559510MITFc.1213G>C (p.Val405Leu)
c.1210G>C (p.Val404Leu)
n.1435G>C
c.1186G>C (p.Val396Leu)
c.*24G>C (n.*24G>C)
c.1279G>C (p.Val427Leu)
c.958G>C (p.Val320Leu)
c.1258G>C (p.Val420Leu)
c.1261G>C (p.Val421Leu)
c.940G>C (p.Val314Leu)
c.1105G>C (p.Val369Leu)
c.*605G>C (n.*605G>C)
c.772G>C (p.Val258Leu)
c.1231G>C (p.Val411Leu)
c.1123G>C (p.Val375Leu)
c.1276G>C (p.Val426Leu)
c.1228G>C (p.Val410Leu)
c.1111G>C (p.Val371Leu)
c.1093G>C (p.Val365Leu)
3g.69964946G=CA1373414047MITFc.1213G= (p.Val405=)
c.1210G= (p.Val404=)
n.1435G=
c.1186G= (p.Val396=)
c.*24G= (n.*24G=)
c.1279G= (p.Val427=)
c.958G= (p.Val320=)
c.1258G= (p.Val420=)
c.1261G= (p.Val421=)
c.940G= (p.Val314=)
c.1105G= (p.Val369=)
c.*605G= (n.*605G=)
c.772G= (p.Val258=)
c.1231G= (p.Val411=)
c.1123G= (p.Val375=)
c.1276G= (p.Val426=)
c.1228G= (p.Val410=)
c.1111G= (p.Val371=)
c.1093G= (p.Val365=)
3g.69964946G>TCA353559509MITFc.1213G>T (p.Val405Phe)
c.1210G>T (p.Val404Phe)
n.1435G>T
c.1186G>T (p.Val396Phe)
c.*24G>T (n.*24G>T)
c.1279G>T (p.Val427Phe)
c.958G>T (p.Val320Phe)
c.1258G>T (p.Val420Phe)
c.1261G>T (p.Val421Phe)
c.940G>T (p.Val314Phe)
c.1105G>T (p.Val369Phe)
c.*605G>T (n.*605G>T)
c.772G>T (p.Val258Phe)
c.1231G>T (p.Val411Phe)
c.1123G>T (p.Val375Phe)
c.1276G>T (p.Val426Phe)
c.1228G>T (p.Val410Phe)
c.1111G>T (p.Val371Phe)
c.1093G>T (p.Val365Phe)
3g.69964947T>ACA353559511MITFc.1214T>A (p.Val405Asp)
c.1211T>A (p.Val404Asp)
n.1436T>A
c.1187T>A (p.Val396Asp)
c.*25T>A (n.*25T>A)
c.1280T>A (p.Val427Asp)
c.959T>A (p.Val320Asp)
c.1259T>A (p.Val420Asp)
c.1262T>A (p.Val421Asp)
c.941T>A (p.Val314Asp)
c.1106T>A (p.Val369Asp)
c.*606T>A (n.*606T>A)
c.773T>A (p.Val258Asp)
c.1232T>A (p.Val411Asp)
c.1124T>A (p.Val375Asp)
c.1277T>A (p.Val426Asp)
c.1229T>A (p.Val410Asp)
c.1112T>A (p.Val371Asp)
c.1094T>A (p.Val365Asp)
3g.69964947T>CCA2490635MITFc.1214T>C (p.Val405Ala)
c.1211T>C (p.Val404Ala)
n.1436T>C
c.1187T>C (p.Val396Ala)
c.*25T>C (n.*25T>C)
c.1280T>C (p.Val427Ala)
c.959T>C (p.Val320Ala)
c.1259T>C (p.Val420Ala)
c.1262T>C (p.Val421Ala)
c.941T>C (p.Val314Ala)
c.1106T>C (p.Val369Ala)
c.*606T>C (n.*606T>C)
c.773T>C (p.Val258Ala)
c.1232T>C (p.Val411Ala)
c.1124T>C (p.Val375Ala)
c.1277T>C (p.Val426Ala)
c.1229T>C (p.Val410Ala)
c.1112T>C (p.Val371Ala)
c.1094T>C (p.Val365Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964947T>GCA353559512MITFc.1214T>G (p.Val405Gly)
c.1211T>G (p.Val404Gly)
n.1436T>G
c.1187T>G (p.Val396Gly)
c.*25T>G (n.*25T>G)
c.1280T>G (p.Val427Gly)
c.959T>G (p.Val320Gly)
c.1259T>G (p.Val420Gly)
c.1262T>G (p.Val421Gly)
c.941T>G (p.Val314Gly)
c.1106T>G (p.Val369Gly)
c.*606T>G (n.*606T>G)
c.773T>G (p.Val258Gly)
c.1232T>G (p.Val411Gly)
c.1124T>G (p.Val375Gly)
c.1277T>G (p.Val426Gly)
c.1229T>G (p.Val410Gly)
c.1112T>G (p.Val371Gly)
c.1094T>G (p.Val365Gly)
3g.69964947T=CA1373414048MITFc.1214T= (p.Val405=)
c.1211T= (p.Val404=)
n.1436T=
c.1187T= (p.Val396=)
c.*25T= (n.*25T=)
c.1280T= (p.Val427=)
c.959T= (p.Val320=)
c.1259T= (p.Val420=)
c.1262T= (p.Val421=)
c.941T= (p.Val314=)
c.1106T= (p.Val369=)
c.*606T= (n.*606T=)
c.773T= (p.Val258=)
c.1232T= (p.Val411=)
c.1124T= (p.Val375=)
c.1277T= (p.Val426=)
c.1229T= (p.Val410=)
c.1112T= (p.Val371=)
c.1094T= (p.Val365=)
3g.69964948T>ACA434433613MITFc.1215T>A (p.Val405=)
c.1212T>A (p.Val404=)
n.1437T>A
c.1188T>A (p.Val396=)
c.*26T>A (n.*26T>A)
c.1281T>A (p.Val427=)
c.960T>A (p.Val320=)
c.1260T>A (p.Val420=)
c.1263T>A (p.Val421=)
c.942T>A (p.Val314=)
c.1107T>A (p.Val369=)
c.*607T>A (n.*607T>A)
c.774T>A (p.Val258=)
c.1233T>A (p.Val411=)
c.1125T>A (p.Val375=)
c.1278T>A (p.Val426=)
c.1230T>A (p.Val410=)
c.1113T>A (p.Val371=)
c.1095T>A (p.Val365=)
3g.69964948T>CCA77003518MITFc.1215T>C (p.Val405=)
c.1212T>C (p.Val404=)
n.1437T>C
c.1188T>C (p.Val396=)
c.*26T>C (n.*26T>C)
c.1281T>C (p.Val427=)
c.960T>C (p.Val320=)
c.1260T>C (p.Val420=)
c.1263T>C (p.Val421=)
c.942T>C (p.Val314=)
c.1107T>C (p.Val369=)
c.*607T>C (n.*607T>C)
c.774T>C (p.Val258=)
c.1233T>C (p.Val411=)
c.1125T>C (p.Val375=)
c.1278T>C (p.Val426=)
c.1230T>C (p.Val410=)
c.1113T>C (p.Val371=)
c.1095T>C (p.Val365=)
 dbSNP gnomAD v4
3g.69964948T>GCA434433614MITFc.1215T>G (p.Val405=)
c.1212T>G (p.Val404=)
n.1437T>G
c.1188T>G (p.Val396=)
c.*26T>G (n.*26T>G)
c.1281T>G (p.Val427=)
c.960T>G (p.Val320=)
c.1260T>G (p.Val420=)
c.1263T>G (p.Val421=)
c.942T>G (p.Val314=)
c.1107T>G (p.Val369=)
c.*607T>G (n.*607T>G)
c.774T>G (p.Val258=)
c.1233T>G (p.Val411=)
c.1125T>G (p.Val375=)
c.1278T>G (p.Val426=)
c.1230T>G (p.Val410=)
c.1113T>G (p.Val371=)
c.1095T>G (p.Val365=)
3g.69964948T=CA1373414050MITFc.1215T= (p.Val405=)
c.1212T= (p.Val404=)
n.1437T=
c.1188T= (p.Val396=)
c.*26T= (n.*26T=)
c.1281T= (p.Val427=)
c.960T= (p.Val320=)
c.1260T= (p.Val420=)
c.1263T= (p.Val421=)
c.942T= (p.Val314=)
c.1107T= (p.Val369=)
c.*607T= (n.*607T=)
c.774T= (p.Val258=)
c.1233T= (p.Val411=)
c.1125T= (p.Val375=)
c.1278T= (p.Val426=)
c.1230T= (p.Val410=)
c.1113T= (p.Val371=)
c.1095T= (p.Val365=)
3g.69964948_69964949insACCCA2502980156MITFc.1215_1216insACC (p.Val405_Leu406insThr)
c.1212_1213insACC (p.Val404_Leu405insThr)
n.1437_1438insACC
c.1188_1189insACC (p.Val396_Leu397insThr)
c.*26_*27insACC (n.*26_*27insACC)
c.1281_1282insACC (p.Val427_Leu428insThr)
c.960_961insACC (p.Val320_Leu321insThr)
c.1260_1261insACC (p.Val420_Leu421insThr)
c.1263_1264insACC (p.Val421_Leu422insThr)
c.942_943insACC (p.Val314_Leu315insThr)
c.1107_1108insACC (p.Val369_Leu370insThr)
c.*607_*608insACC (n.*607_*608insACC)
c.774_775insACC (p.Val258_Leu259insThr)
c.1233_1234insACC (p.Val411_Leu412insThr)
c.1125_1126insACC (p.Val375_Leu376insThr)
c.1278_1279insACC (p.Val426_Leu427insThr)
c.1230_1231insACC (p.Val410_Leu411insThr)
c.1113_1114insACC (p.Val371_Leu372insThr)
c.1095_1096insACC (p.Val365_Leu366insThr)
3g.69964949C>ACA2490636MITFc.1216C>A (p.Leu406Ile)
c.1213C>A (p.Leu405Ile)
n.1438C>A
c.1189C>A (p.Leu397Ile)
c.*27C>A (n.*27C>A)
c.1282C>A (p.Leu428Ile)
c.961C>A (p.Leu321Ile)
c.1261C>A (p.Leu421Ile)
c.1264C>A (p.Leu422Ile)
c.943C>A (p.Leu315Ile)
c.1108C>A (p.Leu370Ile)
c.*608C>A (n.*608C>A)
c.775C>A (p.Leu259Ile)
c.1234C>A (p.Leu412Ile)
c.1126C>A (p.Leu376Ile)
c.1279C>A (p.Leu427Ile)
c.1231C>A (p.Leu411Ile)
c.1114C>A (p.Leu372Ile)
c.1096C>A (p.Leu366Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964949C=CA1373414054MITFc.1216C= (p.Leu406=)
c.1213C= (p.Leu405=)
n.1438C=
c.1189C= (p.Leu397=)
c.*27C= (n.*27C=)
c.1282C= (p.Leu428=)
c.961C= (p.Leu321=)
c.1261C= (p.Leu421=)
c.1264C= (p.Leu422=)
c.943C= (p.Leu315=)
c.1108C= (p.Leu370=)
c.*608C= (n.*608C=)
c.775C= (p.Leu259=)
c.1234C= (p.Leu412=)
c.1126C= (p.Leu376=)
c.1279C= (p.Leu427=)
c.1231C= (p.Leu411=)
c.1114C= (p.Leu372=)
c.1096C= (p.Leu366=)
3g.69964949C>GCA353559513MITFc.1216C>G (p.Leu406Val)
c.1213C>G (p.Leu405Val)
n.1438C>G
c.1189C>G (p.Leu397Val)
c.*27C>G (n.*27C>G)
c.1282C>G (p.Leu428Val)
c.961C>G (p.Leu321Val)
c.1261C>G (p.Leu421Val)
c.1264C>G (p.Leu422Val)
c.943C>G (p.Leu315Val)
c.1108C>G (p.Leu370Val)
c.*608C>G (n.*608C>G)
c.775C>G (p.Leu259Val)
c.1234C>G (p.Leu412Val)
c.1126C>G (p.Leu376Val)
c.1279C>G (p.Leu427Val)
c.1231C>G (p.Leu411Val)
c.1114C>G (p.Leu372Val)
c.1096C>G (p.Leu366Val)
3g.69964949C>TCA353559514MITFc.1216C>T (p.Leu406Phe)
c.1213C>T (p.Leu405Phe)
n.1438C>T
c.1189C>T (p.Leu397Phe)
c.*27C>T (n.*27C>T)
c.1282C>T (p.Leu428Phe)
c.961C>T (p.Leu321Phe)
c.1261C>T (p.Leu421Phe)
c.1264C>T (p.Leu422Phe)
c.943C>T (p.Leu315Phe)
c.1108C>T (p.Leu370Phe)
c.*608C>T (n.*608C>T)
c.775C>T (p.Leu259Phe)
c.1234C>T (p.Leu412Phe)
c.1126C>T (p.Leu376Phe)
c.1279C>T (p.Leu427Phe)
c.1231C>T (p.Leu411Phe)
c.1114C>T (p.Leu372Phe)
c.1096C>T (p.Leu366Phe)
3g.69964950T>ACA353559515MITFc.1217T>A (p.Leu406His)
c.1214T>A (p.Leu405His)
n.1439T>A
c.1190T>A (p.Leu397His)
c.*28T>A (n.*28T>A)
c.1283T>A (p.Leu428His)
c.962T>A (p.Leu321His)
c.1262T>A (p.Leu421His)
c.1265T>A (p.Leu422His)
c.944T>A (p.Leu315His)
c.1109T>A (p.Leu370His)
c.*609T>A (n.*609T>A)
c.776T>A (p.Leu259His)
c.1235T>A (p.Leu412His)
c.1127T>A (p.Leu376His)
c.1280T>A (p.Leu427His)
c.1232T>A (p.Leu411His)
c.1115T>A (p.Leu372His)
c.1097T>A (p.Leu366His)
3g.69964950T>CCA353559516MITFc.1217T>C (p.Leu406Pro)
c.1214T>C (p.Leu405Pro)
n.1439T>C
c.1190T>C (p.Leu397Pro)
c.*28T>C (n.*28T>C)
c.1283T>C (p.Leu428Pro)
c.962T>C (p.Leu321Pro)
c.1262T>C (p.Leu421Pro)
c.1265T>C (p.Leu422Pro)
c.944T>C (p.Leu315Pro)
c.1109T>C (p.Leu370Pro)
c.*609T>C (n.*609T>C)
c.776T>C (p.Leu259Pro)
c.1235T>C (p.Leu412Pro)
c.1127T>C (p.Leu376Pro)
c.1280T>C (p.Leu427Pro)
c.1232T>C (p.Leu411Pro)
c.1115T>C (p.Leu372Pro)
c.1097T>C (p.Leu366Pro)
 dbSNP
3g.69964950T>GCA353559517MITFc.1217T>G (p.Leu406Arg)
c.1214T>G (p.Leu405Arg)
n.1439T>G
c.1190T>G (p.Leu397Arg)
c.*28T>G (n.*28T>G)
c.1283T>G (p.Leu428Arg)
c.962T>G (p.Leu321Arg)
c.1262T>G (p.Leu421Arg)
c.1265T>G (p.Leu422Arg)
c.944T>G (p.Leu315Arg)
c.1109T>G (p.Leu370Arg)
c.*609T>G (n.*609T>G)
c.776T>G (p.Leu259Arg)
c.1235T>G (p.Leu412Arg)
c.1127T>G (p.Leu376Arg)
c.1280T>G (p.Leu427Arg)
c.1232T>G (p.Leu411Arg)
c.1115T>G (p.Leu372Arg)
c.1097T>G (p.Leu366Arg)
3g.69964950T=CA1373414057MITFc.1217T= (p.Leu406=)
c.1214T= (p.Leu405=)
n.1439T=
c.1190T= (p.Leu397=)
c.*28T= (n.*28T=)
c.1283T= (p.Leu428=)
c.962T= (p.Leu321=)
c.1262T= (p.Leu421=)
c.1265T= (p.Leu422=)
c.944T= (p.Leu315=)
c.1109T= (p.Leu370=)
c.*609T= (n.*609T=)
c.776T= (p.Leu259=)
c.1235T= (p.Leu412=)
c.1127T= (p.Leu376=)
c.1280T= (p.Leu427=)
c.1232T= (p.Leu411=)
c.1115T= (p.Leu372=)
c.1097T= (p.Leu366=)
3g.69964951T>ACA434433619MITFc.1218T>A (p.Leu406=)
c.1215T>A (p.Leu405=)
n.1440T>A
c.1191T>A (p.Leu397=)
c.*29T>A (n.*29T>A)
c.1284T>A (p.Leu428=)
c.963T>A (p.Leu321=)
c.1263T>A (p.Leu421=)
c.1266T>A (p.Leu422=)
c.945T>A (p.Leu315=)
c.1110T>A (p.Leu370=)
c.*610T>A (n.*610T>A)
c.777T>A (p.Leu259=)
c.1236T>A (p.Leu412=)
c.1128T>A (p.Leu376=)
c.1281T>A (p.Leu427=)
c.1233T>A (p.Leu411=)
c.1116T>A (p.Leu372=)
c.1098T>A (p.Leu366=)
3g.69964951T>CCA434433617MITFc.1218T>C (p.Leu406=)
c.1215T>C (p.Leu405=)
n.1440T>C
c.1191T>C (p.Leu397=)
c.*29T>C (n.*29T>C)
c.1284T>C (p.Leu428=)
c.963T>C (p.Leu321=)
c.1263T>C (p.Leu421=)
c.1266T>C (p.Leu422=)
c.945T>C (p.Leu315=)
c.1110T>C (p.Leu370=)
c.*610T>C (n.*610T>C)
c.777T>C (p.Leu259=)
c.1236T>C (p.Leu412=)
c.1128T>C (p.Leu376=)
c.1281T>C (p.Leu427=)
c.1233T>C (p.Leu411=)
c.1116T>C (p.Leu372=)
c.1098T>C (p.Leu366=)
3g.69964951T>GCA434433618MITFc.1218T>G (p.Leu406=)
c.1215T>G (p.Leu405=)
n.1440T>G
c.1191T>G (p.Leu397=)
c.*29T>G (n.*29T>G)
c.1284T>G (p.Leu428=)
c.963T>G (p.Leu321=)
c.1263T>G (p.Leu421=)
c.1266T>G (p.Leu422=)
c.945T>G (p.Leu315=)
c.1110T>G (p.Leu370=)
c.*610T>G (n.*610T>G)
c.777T>G (p.Leu259=)
c.1236T>G (p.Leu412=)
c.1128T>G (p.Leu376=)
c.1281T>G (p.Leu427=)
c.1233T>G (p.Leu411=)
c.1116T>G (p.Leu372=)
c.1098T>G (p.Leu366=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964951T=CA1373414060MITFc.1218T= (p.Leu406=)
c.1215T= (p.Leu405=)
n.1440T=
c.1191T= (p.Leu397=)
c.*29T= (n.*29T=)
c.1284T= (p.Leu428=)
c.963T= (p.Leu321=)
c.1263T= (p.Leu421=)
c.1266T= (p.Leu422=)
c.945T= (p.Leu315=)
c.1110T= (p.Leu370=)
c.*610T= (n.*610T=)
c.777T= (p.Leu259=)
c.1236T= (p.Leu412=)
c.1128T= (p.Leu376=)
c.1281T= (p.Leu427=)
c.1233T= (p.Leu411=)
c.1116T= (p.Leu372=)
c.1098T= (p.Leu366=)
3g.69964952G>ACA353559518MITFc.1219G>A (p.Glu407Lys)
c.1216G>A (p.Glu406Lys)
n.1441G>A
c.1192G>A (p.Glu398Lys)
c.*30G>A (n.*30G>A)
c.1285G>A (p.Glu429Lys)
c.964G>A (p.Glu322Lys)
c.1264G>A (p.Glu422Lys)
c.1267G>A (p.Glu423Lys)
c.946G>A (p.Glu316Lys)
c.1111G>A (p.Glu371Lys)
c.*611G>A (n.*611G>A)
c.778G>A (p.Glu260Lys)
c.1237G>A (p.Glu413Lys)
c.1129G>A (p.Glu377Lys)
c.1282G>A (p.Glu428Lys)
c.1234G>A (p.Glu412Lys)
c.1117G>A (p.Glu373Lys)
c.1099G>A (p.Glu367Lys)
3g.69964952G>CCA2490637MITFc.1219G>C (p.Glu407Gln)
c.1216G>C (p.Glu406Gln)
n.1441G>C
c.1192G>C (p.Glu398Gln)
c.*30G>C (n.*30G>C)
c.1285G>C (p.Glu429Gln)
c.964G>C (p.Glu322Gln)
c.1264G>C (p.Glu422Gln)
c.1267G>C (p.Glu423Gln)
c.946G>C (p.Glu316Gln)
c.1111G>C (p.Glu371Gln)
c.*611G>C (n.*611G>C)
c.778G>C (p.Glu260Gln)
c.1237G>C (p.Glu413Gln)
c.1129G>C (p.Glu377Gln)
c.1282G>C (p.Glu428Gln)
c.1234G>C (p.Glu412Gln)
c.1117G>C (p.Glu373Gln)
c.1099G>C (p.Glu367Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964952G=CA1373414063MITFc.1219G= (p.Glu407=)
c.1216G= (p.Glu406=)
n.1441G=
c.1192G= (p.Glu398=)
c.*30G= (n.*30G=)
c.1285G= (p.Glu429=)
c.964G= (p.Glu322=)
c.1264G= (p.Glu422=)
c.1267G= (p.Glu423=)
c.946G= (p.Glu316=)
c.1111G= (p.Glu371=)
c.*611G= (n.*611G=)
c.778G= (p.Glu260=)
c.1237G= (p.Glu413=)
c.1129G= (p.Glu377=)
c.1282G= (p.Glu428=)
c.1234G= (p.Glu412=)
c.1117G= (p.Glu373=)
c.1099G= (p.Glu367=)
3g.69964952G>TCA353559519MITFc.1219G>T (p.Glu407Ter)
c.1216G>T (p.Glu406Ter)
n.1441G>T
c.1192G>T (p.Glu398Ter)
c.*30G>T (n.*30G>T)
c.1285G>T (p.Glu429Ter)
c.964G>T (p.Glu322Ter)
c.1264G>T (p.Glu422Ter)
c.1267G>T (p.Glu423Ter)
c.946G>T (p.Glu316Ter)
c.1111G>T (p.Glu371Ter)
c.*611G>T (n.*611G>T)
c.778G>T (p.Glu260Ter)
c.1237G>T (p.Glu413Ter)
c.1129G>T (p.Glu377Ter)
c.1282G>T (p.Glu428Ter)
c.1234G>T (p.Glu412Ter)
c.1117G>T (p.Glu373Ter)
c.1099G>T (p.Glu367Ter)
3g.69964953A>CCA353559522MITFc.1220A>C (p.Glu407Ala)
c.1217A>C (p.Glu406Ala)
n.1442A>C
c.1193A>C (p.Glu398Ala)
c.*31A>C (n.*31A>C)
c.1286A>C (p.Glu429Ala)
c.965A>C (p.Glu322Ala)
c.1265A>C (p.Glu422Ala)
c.1268A>C (p.Glu423Ala)
c.947A>C (p.Glu316Ala)
c.1112A>C (p.Glu371Ala)
c.*612A>C (n.*612A>C)
c.779A>C (p.Glu260Ala)
c.1238A>C (p.Glu413Ala)
c.1130A>C (p.Glu377Ala)
c.1283A>C (p.Glu428Ala)
c.1235A>C (p.Glu412Ala)
c.1118A>C (p.Glu373Ala)
c.1100A>C (p.Glu367Ala)
3g.69964953A>GCA353559521MITFc.1220A>G (p.Glu407Gly)
c.1217A>G (p.Glu406Gly)
n.1442A>G
c.1193A>G (p.Glu398Gly)
c.*31A>G (n.*31A>G)
c.1286A>G (p.Glu429Gly)
c.965A>G (p.Glu322Gly)
c.1265A>G (p.Glu422Gly)
c.1268A>G (p.Glu423Gly)
c.947A>G (p.Glu316Gly)
c.1112A>G (p.Glu371Gly)
c.*612A>G (n.*612A>G)
c.779A>G (p.Glu260Gly)
c.1238A>G (p.Glu413Gly)
c.1130A>G (p.Glu377Gly)
c.1283A>G (p.Glu428Gly)
c.1235A>G (p.Glu412Gly)
c.1118A>G (p.Glu373Gly)
c.1100A>G (p.Glu367Gly)
3g.69964953A>TCA353559520MITFc.1220A>T (p.Glu407Val)
c.1217A>T (p.Glu406Val)
n.1442A>T
c.1193A>T (p.Glu398Val)
c.*31A>T (n.*31A>T)
c.1286A>T (p.Glu429Val)
c.965A>T (p.Glu322Val)
c.1265A>T (p.Glu422Val)
c.1268A>T (p.Glu423Val)
c.947A>T (p.Glu316Val)
c.1112A>T (p.Glu371Val)
c.*612A>T (n.*612A>T)
c.779A>T (p.Glu260Val)
c.1238A>T (p.Glu413Val)
c.1130A>T (p.Glu377Val)
c.1283A>T (p.Glu428Val)
c.1235A>T (p.Glu412Val)
c.1118A>T (p.Glu373Val)
c.1100A>T (p.Glu367Val)
3g.69964954G>ACA434433624MITFc.1221G>A (p.Glu407=)
c.1218G>A (p.Glu406=)
n.1443G>A
c.1194G>A (p.Glu398=)
c.*32G>A (n.*32G>A)
c.1287G>A (p.Glu429=)
c.966G>A (p.Glu322=)
c.1266G>A (p.Glu422=)
c.1269G>A (p.Glu423=)
c.948G>A (p.Glu316=)
c.1113G>A (p.Glu371=)
c.*613G>A (n.*613G>A)
c.780G>A (p.Glu260=)
c.1239G>A (p.Glu413=)
c.1131G>A (p.Glu377=)
c.1284G>A (p.Glu428=)
c.1236G>A (p.Glu412=)
c.1119G>A (p.Glu373=)
c.1101G>A (p.Glu367=)
 COSMIC COSMIC COSMIC COSMIC
3g.69964954G>CCA353559523MITFc.1221G>C (p.Glu407Asp)
c.1218G>C (p.Glu406Asp)
n.1443G>C
c.1194G>C (p.Glu398Asp)
c.*32G>C (n.*32G>C)
c.1287G>C (p.Glu429Asp)
c.966G>C (p.Glu322Asp)
c.1266G>C (p.Glu422Asp)
c.1269G>C (p.Glu423Asp)
c.948G>C (p.Glu316Asp)
c.1113G>C (p.Glu371Asp)
c.*613G>C (n.*613G>C)
c.780G>C (p.Glu260Asp)
c.1239G>C (p.Glu413Asp)
c.1131G>C (p.Glu377Asp)
c.1284G>C (p.Glu428Asp)
c.1236G>C (p.Glu412Asp)
c.1119G>C (p.Glu373Asp)
c.1101G>C (p.Glu367Asp)
3g.69964954G>TCA353559524MITFc.1221G>T (p.Glu407Asp)
c.1218G>T (p.Glu406Asp)
n.1443G>T
c.1194G>T (p.Glu398Asp)
c.*32G>T (n.*32G>T)
c.1287G>T (p.Glu429Asp)
c.966G>T (p.Glu322Asp)
c.1266G>T (p.Glu422Asp)
c.1269G>T (p.Glu423Asp)
c.948G>T (p.Glu316Asp)
c.1113G>T (p.Glu371Asp)
c.*613G>T (n.*613G>T)
c.780G>T (p.Glu260Asp)
c.1239G>T (p.Glu413Asp)
c.1131G>T (p.Glu377Asp)
c.1284G>T (p.Glu428Asp)
c.1236G>T (p.Glu412Asp)
c.1119G>T (p.Glu373Asp)
c.1101G>T (p.Glu367Asp)
3g.69964955A>CCA353559525MITFc.1222A>C (p.Asn408His)
c.1219A>C (p.Asn407His)
n.1444A>C
c.1195A>C (p.Asn399His)
c.*33A>C (n.*33A>C)
c.1288A>C (p.Asn430His)
c.967A>C (p.Asn323His)
c.1267A>C (p.Asn423His)
c.1270A>C (p.Asn424His)
c.949A>C (p.Asn317His)
c.1114A>C (p.Asn372His)
c.*614A>C (n.*614A>C)
c.781A>C (p.Asn261His)
c.1240A>C (p.Asn414His)
c.1132A>C (p.Asn378His)
c.1285A>C (p.Asn429His)
c.1237A>C (p.Asn413His)
c.1120A>C (p.Asn374His)
c.1102A>C (p.Asn368His)
3g.69964955A>GCA353559526MITFc.1222A>G (p.Asn408Asp)
c.1219A>G (p.Asn407Asp)
n.1444A>G
c.1195A>G (p.Asn399Asp)
c.*33A>G (n.*33A>G)
c.1288A>G (p.Asn430Asp)
c.967A>G (p.Asn323Asp)
c.1267A>G (p.Asn423Asp)
c.1270A>G (p.Asn424Asp)
c.949A>G (p.Asn317Asp)
c.1114A>G (p.Asn372Asp)
c.*614A>G (n.*614A>G)
c.781A>G (p.Asn261Asp)
c.1240A>G (p.Asn414Asp)
c.1132A>G (p.Asn378Asp)
c.1285A>G (p.Asn429Asp)
c.1237A>G (p.Asn413Asp)
c.1120A>G (p.Asn374Asp)
c.1102A>G (p.Asn368Asp)
3g.69964955A>TCA353559527MITFc.1222A>T (p.Asn408Tyr)
c.1219A>T (p.Asn407Tyr)
n.1444A>T
c.1195A>T (p.Asn399Tyr)
c.*33A>T (n.*33A>T)
c.1288A>T (p.Asn430Tyr)
c.967A>T (p.Asn323Tyr)
c.1267A>T (p.Asn423Tyr)
c.1270A>T (p.Asn424Tyr)
c.949A>T (p.Asn317Tyr)
c.1114A>T (p.Asn372Tyr)
c.*614A>T (n.*614A>T)
c.781A>T (p.Asn261Tyr)
c.1240A>T (p.Asn414Tyr)
c.1132A>T (p.Asn378Tyr)
c.1285A>T (p.Asn429Tyr)
c.1237A>T (p.Asn413Tyr)
c.1120A>T (p.Asn374Tyr)
c.1102A>T (p.Asn368Tyr)
3g.69964956A=CA1373414065MITFc.1223A= (p.Asn408=)
c.1220A= (p.Asn407=)
n.1445A=
c.1196A= (p.Asn399=)
c.*34A= (n.*34A=)
c.1289A= (p.Asn430=)
c.968A= (p.Asn323=)
c.1268A= (p.Asn423=)
c.1271A= (p.Asn424=)
c.950A= (p.Asn317=)
c.1115A= (p.Asn372=)
c.*615A= (n.*615A=)
c.782A= (p.Asn261=)
c.1241A= (p.Asn414=)
c.1133A= (p.Asn378=)
c.1286A= (p.Asn429=)
c.1238A= (p.Asn413=)
c.1121A= (p.Asn374=)
c.1103A= (p.Asn368=)
3g.69964956A>CCA353559528MITFc.1223A>C (p.Asn408Thr)
c.1220A>C (p.Asn407Thr)
n.1445A>C
c.1196A>C (p.Asn399Thr)
c.*34A>C (n.*34A>C)
c.1289A>C (p.Asn430Thr)
c.968A>C (p.Asn323Thr)
c.1268A>C (p.Asn423Thr)
c.1271A>C (p.Asn424Thr)
c.950A>C (p.Asn317Thr)
c.1115A>C (p.Asn372Thr)
c.*615A>C (n.*615A>C)
c.782A>C (p.Asn261Thr)
c.1241A>C (p.Asn414Thr)
c.1133A>C (p.Asn378Thr)
c.1286A>C (p.Asn429Thr)
c.1238A>C (p.Asn413Thr)
c.1121A>C (p.Asn374Thr)
c.1103A>C (p.Asn368Thr)
 COSMIC
3g.69964956A>GCA353559529MITFc.1223A>G (p.Asn408Ser)
c.1220A>G (p.Asn407Ser)
n.1445A>G
c.1196A>G (p.Asn399Ser)
c.*34A>G (n.*34A>G)
c.1289A>G (p.Asn430Ser)
c.968A>G (p.Asn323Ser)
c.1268A>G (p.Asn423Ser)
c.1271A>G (p.Asn424Ser)
c.950A>G (p.Asn317Ser)
c.1115A>G (p.Asn372Ser)
c.*615A>G (n.*615A>G)
c.782A>G (p.Asn261Ser)
c.1241A>G (p.Asn414Ser)
c.1133A>G (p.Asn378Ser)
c.1286A>G (p.Asn429Ser)
c.1238A>G (p.Asn413Ser)
c.1121A>G (p.Asn374Ser)
c.1103A>G (p.Asn368Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964956A>TCA353559530MITFc.1223A>T (p.Asn408Ile)
c.1220A>T (p.Asn407Ile)
n.1445A>T
c.1196A>T (p.Asn399Ile)
c.*34A>T (n.*34A>T)
c.1289A>T (p.Asn430Ile)
c.968A>T (p.Asn323Ile)
c.1268A>T (p.Asn423Ile)
c.1271A>T (p.Asn424Ile)
c.950A>T (p.Asn317Ile)
c.1115A>T (p.Asn372Ile)
c.*615A>T (n.*615A>T)
c.782A>T (p.Asn261Ile)
c.1241A>T (p.Asn414Ile)
c.1133A>T (p.Asn378Ile)
c.1286A>T (p.Asn429Ile)
c.1238A>T (p.Asn413Ile)
c.1121A>T (p.Asn374Ile)
c.1103A>T (p.Asn368Ile)
3g.69964957C>ACA353559531MITFc.1224C>A (p.Asn408Lys)
c.1221C>A (p.Asn407Lys)
n.1446C>A
c.1197C>A (p.Asn399Lys)
c.*35C>A (n.*35C>A)
c.1290C>A (p.Asn430Lys)
c.969C>A (p.Asn323Lys)
c.1269C>A (p.Asn423Lys)
c.1272C>A (p.Asn424Lys)
c.951C>A (p.Asn317Lys)
c.1116C>A (p.Asn372Lys)
c.*616C>A (n.*616C>A)
c.783C>A (p.Asn261Lys)
c.1242C>A (p.Asn414Lys)
c.1134C>A (p.Asn378Lys)
c.1287C>A (p.Asn429Lys)
c.1239C>A (p.Asn413Lys)
c.1122C>A (p.Asn374Lys)
c.1104C>A (p.Asn368Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964957C=CA1373414070MITFc.1224C= (p.Asn408=)
c.1221C= (p.Asn407=)
n.1446C=
c.1197C= (p.Asn399=)
c.*35C= (n.*35C=)
c.1290C= (p.Asn430=)
c.969C= (p.Asn323=)
c.1269C= (p.Asn423=)
c.1272C= (p.Asn424=)
c.951C= (p.Asn317=)
c.1116C= (p.Asn372=)
c.*616C= (n.*616C=)
c.783C= (p.Asn261=)
c.1242C= (p.Asn414=)
c.1134C= (p.Asn378=)
c.1287C= (p.Asn429=)
c.1239C= (p.Asn413=)
c.1122C= (p.Asn374=)
c.1104C= (p.Asn368=)
3g.69964957C>GCA353559532MITFc.1224C>G (p.Asn408Lys)
c.1221C>G (p.Asn407Lys)
n.1446C>G
c.1197C>G (p.Asn399Lys)
c.*35C>G (n.*35C>G)
c.1290C>G (p.Asn430Lys)
c.969C>G (p.Asn323Lys)
c.1269C>G (p.Asn423Lys)
c.1272C>G (p.Asn424Lys)
c.951C>G (p.Asn317Lys)
c.1116C>G (p.Asn372Lys)
c.*616C>G (n.*616C>G)
c.783C>G (p.Asn261Lys)
c.1242C>G (p.Asn414Lys)
c.1134C>G (p.Asn378Lys)
c.1287C>G (p.Asn429Lys)
c.1239C>G (p.Asn413Lys)
c.1122C>G (p.Asn374Lys)
c.1104C>G (p.Asn368Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964957C>TCA77003519MITFc.1224C>T (p.Asn408=)
c.1221C>T (p.Asn407=)
n.1446C>T
c.1197C>T (p.Asn399=)
c.*35C>T (n.*35C>T)
c.1290C>T (p.Asn430=)
c.969C>T (p.Asn323=)
c.1269C>T (p.Asn423=)
c.1272C>T (p.Asn424=)
c.951C>T (p.Asn317=)
c.1116C>T (p.Asn372=)
c.*616C>T (n.*616C>T)
c.783C>T (p.Asn261=)
c.1242C>T (p.Asn414=)
c.1134C>T (p.Asn378=)
c.1287C>T (p.Asn429=)
c.1239C>T (p.Asn413=)
c.1122C>T (p.Asn374=)
c.1104C>T (p.Asn368=)
 dbSNP
3g.69964958T>ACA353559533MITFc.1225T>A (p.Cys409Ser)
c.1222T>A (p.Cys408Ser)
n.1447T>A
c.1198T>A (p.Cys400Ser)
c.*36T>A (n.*36T>A)
c.1291T>A (p.Cys431Ser)
c.970T>A (p.Cys324Ser)
c.1270T>A (p.Cys424Ser)
c.1273T>A (p.Cys425Ser)
c.952T>A (p.Cys318Ser)
c.1117T>A (p.Cys373Ser)
c.*617T>A (n.*617T>A)
c.784T>A (p.Cys262Ser)
c.1243T>A (p.Cys415Ser)
c.1135T>A (p.Cys379Ser)
c.1288T>A (p.Cys430Ser)
c.1240T>A (p.Cys414Ser)
c.1123T>A (p.Cys375Ser)
c.1105T>A (p.Cys369Ser)
3g.69964958T>CCA353559534MITFc.1225T>C (p.Cys409Arg)
c.1222T>C (p.Cys408Arg)
n.1447T>C
c.1198T>C (p.Cys400Arg)
c.*36T>C (n.*36T>C)
c.1291T>C (p.Cys431Arg)
c.970T>C (p.Cys324Arg)
c.1270T>C (p.Cys424Arg)
c.1273T>C (p.Cys425Arg)
c.952T>C (p.Cys318Arg)
c.1117T>C (p.Cys373Arg)
c.*617T>C (n.*617T>C)
c.784T>C (p.Cys262Arg)
c.1243T>C (p.Cys415Arg)
c.1135T>C (p.Cys379Arg)
c.1288T>C (p.Cys430Arg)
c.1240T>C (p.Cys414Arg)
c.1123T>C (p.Cys375Arg)
c.1105T>C (p.Cys369Arg)
3g.69964958T>GCA353559535MITFc.1225T>G (p.Cys409Gly)
c.1222T>G (p.Cys408Gly)
n.1447T>G
c.1198T>G (p.Cys400Gly)
c.*36T>G (n.*36T>G)
c.1291T>G (p.Cys431Gly)
c.970T>G (p.Cys324Gly)
c.1270T>G (p.Cys424Gly)
c.1273T>G (p.Cys425Gly)
c.952T>G (p.Cys318Gly)
c.1117T>G (p.Cys373Gly)
c.*617T>G (n.*617T>G)
c.784T>G (p.Cys262Gly)
c.1243T>G (p.Cys415Gly)
c.1135T>G (p.Cys379Gly)
c.1288T>G (p.Cys430Gly)
c.1240T>G (p.Cys414Gly)
c.1123T>G (p.Cys375Gly)
c.1105T>G (p.Cys369Gly)
 ClinVar
3g.69964958dupCA2499216979MITFc.1225dup (p.Cys409LeufsTer?)
c.1222dup (p.Cys408LeufsTer?)
n.1447dup
c.1198dup (p.Cys400LeufsTer?)
c.*36dup (n.*36dup)
c.1291dup (p.Cys431LeufsTer?)
c.970dup (p.Cys324LeufsTer?)
c.1270dup (p.Cys424LeufsTer?)
c.1273dup (p.Cys425LeufsTer?)
c.952dup (p.Cys318LeufsTer?)
c.1117dup (p.Cys373LeufsTer?)
c.*617dup (n.*617dup)
c.784dup (p.Cys262LeufsTer?)
c.1243dup (p.Cys415LeufsTer?)
c.1135dup (p.Cys379LeufsTer?)
c.1288dup (p.Cys430LeufsTer?)
c.1240dup (p.Cys414LeufsTer?)
c.1123dup (p.Cys375LeufsTer?)
c.1105dup (p.Cys369LeufsTer?)
 ClinVar dbSNP
3g.69964959G>ACA353559537MITFc.1226G>A (p.Cys409Tyr)
c.1223G>A (p.Cys408Tyr)
n.1448G>A
c.1199G>A (p.Cys400Tyr)
c.*37G>A (n.*37G>A)
c.1292G>A (p.Cys431Tyr)
c.971G>A (p.Cys324Tyr)
c.1271G>A (p.Cys424Tyr)
c.1274G>A (p.Cys425Tyr)
c.953G>A (p.Cys318Tyr)
c.1118G>A (p.Cys373Tyr)
c.*618G>A (n.*618G>A)
c.785G>A (p.Cys262Tyr)
c.1244G>A (p.Cys415Tyr)
c.1136G>A (p.Cys379Tyr)
c.1289G>A (p.Cys430Tyr)
c.1241G>A (p.Cys414Tyr)
c.1124G>A (p.Cys375Tyr)
c.1106G>A (p.Cys369Tyr)
 dbSNP
3g.69964959G>CCA353559538MITFc.1226G>C (p.Cys409Ser)
c.1223G>C (p.Cys408Ser)
n.1448G>C
c.1199G>C (p.Cys400Ser)
c.*37G>C (n.*37G>C)
c.1292G>C (p.Cys431Ser)
c.971G>C (p.Cys324Ser)
c.1271G>C (p.Cys424Ser)
c.1274G>C (p.Cys425Ser)
c.953G>C (p.Cys318Ser)
c.1118G>C (p.Cys373Ser)
c.*618G>C (n.*618G>C)
c.785G>C (p.Cys262Ser)
c.1244G>C (p.Cys415Ser)
c.1136G>C (p.Cys379Ser)
c.1289G>C (p.Cys430Ser)
c.1241G>C (p.Cys414Ser)
c.1124G>C (p.Cys375Ser)
c.1106G>C (p.Cys369Ser)
3g.69964959G>TCA353559536MITFc.1226G>T (p.Cys409Phe)
c.1223G>T (p.Cys408Phe)
n.1448G>T
c.1199G>T (p.Cys400Phe)
c.*37G>T (n.*37G>T)
c.1292G>T (p.Cys431Phe)
c.971G>T (p.Cys324Phe)
c.1271G>T (p.Cys424Phe)
c.1274G>T (p.Cys425Phe)
c.953G>T (p.Cys318Phe)
c.1118G>T (p.Cys373Phe)
c.*618G>T (n.*618G>T)
c.785G>T (p.Cys262Phe)
c.1244G>T (p.Cys415Phe)
c.1136G>T (p.Cys379Phe)
c.1289G>T (p.Cys430Phe)
c.1241G>T (p.Cys414Phe)
c.1124G>T (p.Cys375Phe)
c.1106G>T (p.Cys369Phe)
3g.69964960C>ACA353559540MITFc.1227C>A (p.Cys409Ter)
c.1224C>A (p.Cys408Ter)
n.1449C>A
c.1200C>A (p.Cys400Ter)
c.*38C>A (n.*38C>A)
c.1293C>A (p.Cys431Ter)
c.972C>A (p.Cys324Ter)
c.1272C>A (p.Cys424Ter)
c.1275C>A (p.Cys425Ter)
c.954C>A (p.Cys318Ter)
c.1119C>A (p.Cys373Ter)
c.*619C>A (n.*619C>A)
c.786C>A (p.Cys262Ter)
c.1245C>A (p.Cys415Ter)
c.1137C>A (p.Cys379Ter)
c.1290C>A (p.Cys430Ter)
c.1242C>A (p.Cys414Ter)
c.1125C>A (p.Cys375Ter)
c.1107C>A (p.Cys369Ter)
 dbSNP
3g.69964960C>GCA353559539MITFc.1227C>G (p.Cys409Trp)
c.1224C>G (p.Cys408Trp)
n.1449C>G
c.1200C>G (p.Cys400Trp)
c.*38C>G (n.*38C>G)
c.1293C>G (p.Cys431Trp)
c.972C>G (p.Cys324Trp)
c.1272C>G (p.Cys424Trp)
c.1275C>G (p.Cys425Trp)
c.954C>G (p.Cys318Trp)
c.1119C>G (p.Cys373Trp)
c.*619C>G (n.*619C>G)
c.786C>G (p.Cys262Trp)
c.1245C>G (p.Cys415Trp)
c.1137C>G (p.Cys379Trp)
c.1290C>G (p.Cys430Trp)
c.1242C>G (p.Cys414Trp)
c.1125C>G (p.Cys375Trp)
c.1107C>G (p.Cys369Trp)
3g.69964960C>TCA434433632MITFc.1227C>T (p.Cys409=)
c.1224C>T (p.Cys408=)
n.1449C>T
c.1200C>T (p.Cys400=)
c.*38C>T (n.*38C>T)
c.1293C>T (p.Cys431=)
c.972C>T (p.Cys324=)
c.1272C>T (p.Cys424=)
c.1275C>T (p.Cys425=)
c.954C>T (p.Cys318=)
c.1119C>T (p.Cys373=)
c.*619C>T (n.*619C>T)
c.786C>T (p.Cys262=)
c.1245C>T (p.Cys415=)
c.1137C>T (p.Cys379=)
c.1290C>T (p.Cys430=)
c.1242C>T (p.Cys414=)
c.1125C>T (p.Cys375=)
c.1107C>T (p.Cys369=)
 dbSNP
3g.69964961A>CCA353559543MITFc.1228A>C (p.Ser410Arg)
c.1225A>C (p.Ser409Arg)
n.1450A>C
c.1201A>C (p.Ser401Arg)
c.*39A>C (n.*39A>C)
c.1294A>C (p.Ser432Arg)
c.973A>C (p.Ser325Arg)
c.1273A>C (p.Ser425Arg)
c.1276A>C (p.Ser426Arg)
c.955A>C (p.Ser319Arg)
c.1120A>C (p.Ser374Arg)
c.*620A>C (n.*620A>C)
c.787A>C (p.Ser263Arg)
c.1246A>C (p.Ser416Arg)
c.1138A>C (p.Ser380Arg)
c.1291A>C (p.Ser431Arg)
c.1243A>C (p.Ser415Arg)
c.1126A>C (p.Ser376Arg)
c.1108A>C (p.Ser370Arg)
3g.69964961A>GCA353559541MITFc.1228A>G (p.Ser410Gly)
c.1225A>G (p.Ser409Gly)
n.1450A>G
c.1201A>G (p.Ser401Gly)
c.*39A>G (n.*39A>G)
c.1294A>G (p.Ser432Gly)
c.973A>G (p.Ser325Gly)
c.1273A>G (p.Ser425Gly)
c.1276A>G (p.Ser426Gly)
c.955A>G (p.Ser319Gly)
c.1120A>G (p.Ser374Gly)
c.*620A>G (n.*620A>G)
c.787A>G (p.Ser263Gly)
c.1246A>G (p.Ser416Gly)
c.1138A>G (p.Ser380Gly)
c.1291A>G (p.Ser431Gly)
c.1243A>G (p.Ser415Gly)
c.1126A>G (p.Ser376Gly)
c.1108A>G (p.Ser370Gly)
3g.69964961A>TCA353559542MITFc.1228A>T (p.Ser410Cys)
c.1225A>T (p.Ser409Cys)
n.1450A>T
c.1201A>T (p.Ser401Cys)
c.*39A>T (n.*39A>T)
c.1294A>T (p.Ser432Cys)
c.973A>T (p.Ser325Cys)
c.1273A>T (p.Ser425Cys)
c.1276A>T (p.Ser426Cys)
c.955A>T (p.Ser319Cys)
c.1120A>T (p.Ser374Cys)
c.*620A>T (n.*620A>T)
c.787A>T (p.Ser263Cys)
c.1246A>T (p.Ser416Cys)
c.1138A>T (p.Ser380Cys)
c.1291A>T (p.Ser431Cys)
c.1243A>T (p.Ser415Cys)
c.1126A>T (p.Ser376Cys)
c.1108A>T (p.Ser370Cys)
3g.69964962G>ACA353559544MITFc.1229G>A (p.Ser410Asn)
c.1226G>A (p.Ser409Asn)
n.1451G>A
c.1202G>A (p.Ser401Asn)
c.*40G>A (n.*40G>A)
c.1295G>A (p.Ser432Asn)
c.974G>A (p.Ser325Asn)
c.1274G>A (p.Ser425Asn)
c.1277G>A (p.Ser426Asn)
c.956G>A (p.Ser319Asn)
c.1121G>A (p.Ser374Asn)
c.*621G>A (n.*621G>A)
c.788G>A (p.Ser263Asn)
c.1247G>A (p.Ser416Asn)
c.1139G>A (p.Ser380Asn)
c.1292G>A (p.Ser431Asn)
c.1244G>A (p.Ser415Asn)
c.1127G>A (p.Ser376Asn)
c.1109G>A (p.Ser370Asn)
3g.69964962G>CCA353559545MITFc.1229G>C (p.Ser410Thr)
c.1226G>C (p.Ser409Thr)
n.1451G>C
c.1202G>C (p.Ser401Thr)
c.*40G>C (n.*40G>C)
c.1295G>C (p.Ser432Thr)
c.974G>C (p.Ser325Thr)
c.1274G>C (p.Ser425Thr)
c.1277G>C (p.Ser426Thr)
c.956G>C (p.Ser319Thr)
c.1121G>C (p.Ser374Thr)
c.*621G>C (n.*621G>C)
c.788G>C (p.Ser263Thr)
c.1247G>C (p.Ser416Thr)
c.1139G>C (p.Ser380Thr)
c.1292G>C (p.Ser431Thr)
c.1244G>C (p.Ser415Thr)
c.1127G>C (p.Ser376Thr)
c.1109G>C (p.Ser370Thr)
3g.69964962G=CA1373414074MITFc.1229G= (p.Ser410=)
c.1226G= (p.Ser409=)
n.1451G=
c.1202G= (p.Ser401=)
c.*40G= (n.*40G=)
c.1295G= (p.Ser432=)
c.974G= (p.Ser325=)
c.1274G= (p.Ser425=)
c.1277G= (p.Ser426=)
c.956G= (p.Ser319=)
c.1121G= (p.Ser374=)
c.*621G= (n.*621G=)
c.788G= (p.Ser263=)
c.1247G= (p.Ser416=)
c.1139G= (p.Ser380=)
c.1292G= (p.Ser431=)
c.1244G= (p.Ser415=)
c.1127G= (p.Ser376=)
c.1109G= (p.Ser370=)
3g.69964962G>TCA353559546MITFc.1229G>T (p.Ser410Ile)
c.1226G>T (p.Ser409Ile)
n.1451G>T
c.1202G>T (p.Ser401Ile)
c.*40G>T (n.*40G>T)
c.1295G>T (p.Ser432Ile)
c.974G>T (p.Ser325Ile)
c.1274G>T (p.Ser425Ile)
c.1277G>T (p.Ser426Ile)
c.956G>T (p.Ser319Ile)
c.1121G>T (p.Ser374Ile)
c.*621G>T (n.*621G>T)
c.788G>T (p.Ser263Ile)
c.1247G>T (p.Ser416Ile)
c.1139G>T (p.Ser380Ile)
c.1292G>T (p.Ser431Ile)
c.1244G>T (p.Ser415Ile)
c.1127G>T (p.Ser376Ile)
c.1109G>T (p.Ser370Ile)
 dbSNP gnomAD v4
3g.69964963C>ACA353559547MITFc.1230C>A (p.Ser410Arg)
c.1227C>A (p.Ser409Arg)
n.1452C>A
c.1203C>A (p.Ser401Arg)
c.*41C>A (n.*41C>A)
c.1296C>A (p.Ser432Arg)
c.975C>A (p.Ser325Arg)
c.1275C>A (p.Ser425Arg)
c.1278C>A (p.Ser426Arg)
c.957C>A (p.Ser319Arg)
c.1122C>A (p.Ser374Arg)
c.*622C>A (n.*622C>A)
c.789C>A (p.Ser263Arg)
c.1248C>A (p.Ser416Arg)
c.1140C>A (p.Ser380Arg)
c.1293C>A (p.Ser431Arg)
c.1245C>A (p.Ser415Arg)
c.1128C>A (p.Ser376Arg)
c.1110C>A (p.Ser370Arg)
3g.69964963C=CA1373414077MITFc.1230C= (p.Ser410=)
c.1227C= (p.Ser409=)
n.1452C=
c.1203C= (p.Ser401=)
c.*41C= (n.*41C=)
c.1296C= (p.Ser432=)
c.975C= (p.Ser325=)
c.1275C= (p.Ser425=)
c.1278C= (p.Ser426=)
c.957C= (p.Ser319=)
c.1122C= (p.Ser374=)
c.*622C= (n.*622C=)
c.789C= (p.Ser263=)
c.1248C= (p.Ser416=)
c.1140C= (p.Ser380=)
c.1293C= (p.Ser431=)
c.1245C= (p.Ser415=)
c.1128C= (p.Ser376=)
c.1110C= (p.Ser370=)
3g.69964963C>GCA353559548MITFc.1230C>G (p.Ser410Arg)
c.1227C>G (p.Ser409Arg)
n.1452C>G
c.1203C>G (p.Ser401Arg)
c.*41C>G (n.*41C>G)
c.1296C>G (p.Ser432Arg)
c.975C>G (p.Ser325Arg)
c.1275C>G (p.Ser425Arg)
c.1278C>G (p.Ser426Arg)
c.957C>G (p.Ser319Arg)
c.1122C>G (p.Ser374Arg)
c.*622C>G (n.*622C>G)
c.789C>G (p.Ser263Arg)
c.1248C>G (p.Ser416Arg)
c.1140C>G (p.Ser380Arg)
c.1293C>G (p.Ser431Arg)
c.1245C>G (p.Ser415Arg)
c.1128C>G (p.Ser376Arg)
c.1110C>G (p.Ser370Arg)
 dbSNP
3g.69964963C>TCA77003520MITFc.1230C>T (p.Ser410=)
c.1227C>T (p.Ser409=)
n.1452C>T
c.1203C>T (p.Ser401=)
c.*41C>T (n.*41C>T)
c.1296C>T (p.Ser432=)
c.975C>T (p.Ser325=)
c.1275C>T (p.Ser425=)
c.1278C>T (p.Ser426=)
c.957C>T (p.Ser319=)
c.1122C>T (p.Ser374=)
c.*622C>T (n.*622C>T)
c.789C>T (p.Ser263=)
c.1248C>T (p.Ser416=)
c.1140C>T (p.Ser380=)
c.1293C>T (p.Ser431=)
c.1245C>T (p.Ser415=)
c.1128C>T (p.Ser376=)
c.1110C>T (p.Ser370=)
 ClinVar dbSNP gnomAD v4
3g.69964964C>ACA353559549MITFc.1231C>A (p.Gln411Lys)
c.1228C>A (p.Gln410Lys)
n.1453C>A
c.1204C>A (p.Gln402Lys)
c.*42C>A (n.*42C>A)
c.1297C>A (p.Gln433Lys)
c.976C>A (p.Gln326Lys)
c.1276C>A (p.Gln426Lys)
c.1279C>A (p.Gln427Lys)
c.958C>A (p.Gln320Lys)
c.1123C>A (p.Gln375Lys)
c.*623C>A (n.*623C>A)
c.790C>A (p.Gln264Lys)
c.1249C>A (p.Gln417Lys)
c.1141C>A (p.Gln381Lys)
c.1294C>A (p.Gln432Lys)
c.1246C>A (p.Gln416Lys)
c.1129C>A (p.Gln377Lys)
c.1111C>A (p.Gln371Lys)
3g.69964964C=CA1373414080MITFc.1231C= (p.Gln411=)
c.1228C= (p.Gln410=)
n.1453C=
c.1204C= (p.Gln402=)
c.*42C= (n.*42C=)
c.1297C= (p.Gln433=)
c.976C= (p.Gln326=)
c.1276C= (p.Gln426=)
c.1279C= (p.Gln427=)
c.958C= (p.Gln320=)
c.1123C= (p.Gln375=)
c.*623C= (n.*623C=)
c.790C= (p.Gln264=)
c.1249C= (p.Gln417=)
c.1141C= (p.Gln381=)
c.1294C= (p.Gln432=)
c.1246C= (p.Gln416=)
c.1129C= (p.Gln377=)
c.1111C= (p.Gln371=)
3g.69964964C>GCA353559550MITFc.1231C>G (p.Gln411Glu)
c.1228C>G (p.Gln410Glu)
n.1453C>G
c.1204C>G (p.Gln402Glu)
c.*42C>G (n.*42C>G)
c.1297C>G (p.Gln433Glu)
c.976C>G (p.Gln326Glu)
c.1276C>G (p.Gln426Glu)
c.1279C>G (p.Gln427Glu)
c.958C>G (p.Gln320Glu)
c.1123C>G (p.Gln375Glu)
c.*623C>G (n.*623C>G)
c.790C>G (p.Gln264Glu)
c.1249C>G (p.Gln417Glu)
c.1141C>G (p.Gln381Glu)
c.1294C>G (p.Gln432Glu)
c.1246C>G (p.Gln416Glu)
c.1129C>G (p.Gln377Glu)
c.1111C>G (p.Gln371Glu)
3g.69964964C>TCA353559551MITFc.1231C>T (p.Gln411Ter)
c.1228C>T (p.Gln410Ter)
n.1453C>T
c.1204C>T (p.Gln402Ter)
c.*42C>T (n.*42C>T)
c.1297C>T (p.Gln433Ter)
c.976C>T (p.Gln326Ter)
c.1276C>T (p.Gln426Ter)
c.1279C>T (p.Gln427Ter)
c.958C>T (p.Gln320Ter)
c.1123C>T (p.Gln375Ter)
c.*623C>T (n.*623C>T)
c.790C>T (p.Gln264Ter)
c.1249C>T (p.Gln417Ter)
c.1141C>T (p.Gln381Ter)
c.1294C>T (p.Gln432Ter)
c.1246C>T (p.Gln416Ter)
c.1129C>T (p.Gln377Ter)
c.1111C>T (p.Gln371Ter)
 dbSNP
3g.69964965A>CCA353559552MITFc.1232A>C (p.Gln411Pro)
c.1229A>C (p.Gln410Pro)
n.1454A>C
c.1205A>C (p.Gln402Pro)
c.*43A>C (n.*43A>C)
c.1298A>C (p.Gln433Pro)
c.977A>C (p.Gln326Pro)
c.1277A>C (p.Gln426Pro)
c.1280A>C (p.Gln427Pro)
c.959A>C (p.Gln320Pro)
c.1124A>C (p.Gln375Pro)
c.*624A>C (n.*624A>C)
c.791A>C (p.Gln264Pro)
c.1250A>C (p.Gln417Pro)
c.1142A>C (p.Gln381Pro)
c.1295A>C (p.Gln432Pro)
c.1247A>C (p.Gln416Pro)
c.1130A>C (p.Gln377Pro)
c.1112A>C (p.Gln371Pro)
3g.69964965A>GCA353559553MITFc.1232A>G (p.Gln411Arg)
c.1229A>G (p.Gln410Arg)
n.1454A>G
c.1205A>G (p.Gln402Arg)
c.*43A>G (n.*43A>G)
c.1298A>G (p.Gln433Arg)
c.977A>G (p.Gln326Arg)
c.1277A>G (p.Gln426Arg)
c.1280A>G (p.Gln427Arg)
c.959A>G (p.Gln320Arg)
c.1124A>G (p.Gln375Arg)
c.*624A>G (n.*624A>G)
c.791A>G (p.Gln264Arg)
c.1250A>G (p.Gln417Arg)
c.1142A>G (p.Gln381Arg)
c.1295A>G (p.Gln432Arg)
c.1247A>G (p.Gln416Arg)
c.1130A>G (p.Gln377Arg)
c.1112A>G (p.Gln371Arg)
3g.69964965A>TCA353559554MITFc.1232A>T (p.Gln411Leu)
c.1229A>T (p.Gln410Leu)
n.1454A>T
c.1205A>T (p.Gln402Leu)
c.*43A>T (n.*43A>T)
c.1298A>T (p.Gln433Leu)
c.977A>T (p.Gln326Leu)
c.1277A>T (p.Gln426Leu)
c.1280A>T (p.Gln427Leu)
c.959A>T (p.Gln320Leu)
c.1124A>T (p.Gln375Leu)
c.*624A>T (n.*624A>T)
c.791A>T (p.Gln264Leu)
c.1250A>T (p.Gln417Leu)
c.1142A>T (p.Gln381Leu)
c.1295A>T (p.Gln432Leu)
c.1247A>T (p.Gln416Leu)
c.1130A>T (p.Gln377Leu)
c.1112A>T (p.Gln371Leu)
3g.69964966A>CCA353559555MITFc.1233A>C (p.Gln411His)
c.1230A>C (p.Gln410His)
n.1455A>C
c.1206A>C (p.Gln402His)
c.*44A>C (n.*44A>C)
c.1299A>C (p.Gln433His)
c.978A>C (p.Gln326His)
c.1278A>C (p.Gln426His)
c.1281A>C (p.Gln427His)
c.960A>C (p.Gln320His)
c.1125A>C (p.Gln375His)
c.*625A>C (n.*625A>C)
c.792A>C (p.Gln264His)
c.1251A>C (p.Gln417His)
c.1143A>C (p.Gln381His)
c.1296A>C (p.Gln432His)
c.1248A>C (p.Gln416His)
c.1131A>C (p.Gln377His)
c.1113A>C (p.Gln371His)
3g.69964966A>GCA434433642MITFc.1233A>G (p.Gln411=)
c.1230A>G (p.Gln410=)
n.1455A>G
c.1206A>G (p.Gln402=)
c.*44A>G (n.*44A>G)
c.1299A>G (p.Gln433=)
c.978A>G (p.Gln326=)
c.1278A>G (p.Gln426=)
c.1281A>G (p.Gln427=)
c.960A>G (p.Gln320=)
c.1125A>G (p.Gln375=)
c.*625A>G (n.*625A>G)
c.792A>G (p.Gln264=)
c.1251A>G (p.Gln417=)
c.1143A>G (p.Gln381=)
c.1296A>G (p.Gln432=)
c.1248A>G (p.Gln416=)
c.1131A>G (p.Gln377=)
c.1113A>G (p.Gln371=)
 gnomAD v3 gnomAD v4
3g.69964966A>TCA353559556MITFc.1233A>T (p.Gln411His)
c.1230A>T (p.Gln410His)
n.1455A>T
c.1206A>T (p.Gln402His)
c.*44A>T (n.*44A>T)
c.1299A>T (p.Gln433His)
c.978A>T (p.Gln326His)
c.1278A>T (p.Gln426His)
c.1281A>T (p.Gln427His)
c.960A>T (p.Gln320His)
c.1125A>T (p.Gln375His)
c.*625A>T (n.*625A>T)
c.792A>T (p.Gln264His)
c.1251A>T (p.Gln417His)
c.1143A>T (p.Gln381His)
c.1296A>T (p.Gln432His)
c.1248A>T (p.Gln416His)
c.1131A>T (p.Gln377His)
c.1113A>T (p.Gln371His)
3g.69964967G>ACA353559557MITFc.1234G>A (p.Asp412Asn)
c.1231G>A (p.Asp411Asn)
n.1456G>A
c.1207G>A (p.Asp403Asn)
c.*45G>A (n.*45G>A)
c.1300G>A (p.Asp434Asn)
c.979G>A (p.Asp327Asn)
c.1279G>A (p.Asp427Asn)
c.1282G>A (p.Asp428Asn)
c.961G>A (p.Asp321Asn)
c.1126G>A (p.Asp376Asn)
c.*626G>A (n.*626G>A)
c.793G>A (p.Asp265Asn)
c.1252G>A (p.Asp418Asn)
c.1144G>A (p.Asp382Asn)
c.1297G>A (p.Asp433Asn)
c.1249G>A (p.Asp417Asn)
c.1132G>A (p.Asp378Asn)
c.1114G>A (p.Asp372Asn)
3g.69964967G>CCA353559558MITFc.1234G>C (p.Asp412His)
c.1231G>C (p.Asp411His)
n.1456G>C
c.1207G>C (p.Asp403His)
c.*45G>C (n.*45G>C)
c.1300G>C (p.Asp434His)
c.979G>C (p.Asp327His)
c.1279G>C (p.Asp427His)
c.1282G>C (p.Asp428His)
c.961G>C (p.Asp321His)
c.1126G>C (p.Asp376His)
c.*626G>C (n.*626G>C)
c.793G>C (p.Asp265His)
c.1252G>C (p.Asp418His)
c.1144G>C (p.Asp382His)
c.1297G>C (p.Asp433His)
c.1249G>C (p.Asp417His)
c.1132G>C (p.Asp378His)
c.1114G>C (p.Asp372His)
3g.69964967G>TCA353559559MITFc.1234G>T (p.Asp412Tyr)
c.1231G>T (p.Asp411Tyr)
n.1456G>T
c.1207G>T (p.Asp403Tyr)
c.*45G>T (n.*45G>T)
c.1300G>T (p.Asp434Tyr)
c.979G>T (p.Asp327Tyr)
c.1279G>T (p.Asp427Tyr)
c.1282G>T (p.Asp428Tyr)
c.961G>T (p.Asp321Tyr)
c.1126G>T (p.Asp376Tyr)
c.*626G>T (n.*626G>T)
c.793G>T (p.Asp265Tyr)
c.1252G>T (p.Asp418Tyr)
c.1144G>T (p.Asp382Tyr)
c.1297G>T (p.Asp433Tyr)
c.1249G>T (p.Asp417Tyr)
c.1132G>T (p.Asp378Tyr)
c.1114G>T (p.Asp372Tyr)
3g.69964968A=CA1373414083MITFc.1235A= (p.Asp412=)
c.1232A= (p.Asp411=)
n.1457A=
c.1208A= (p.Asp403=)
c.*46A= (n.*46A=)
c.1301A= (p.Asp434=)
c.980A= (p.Asp327=)
c.1280A= (p.Asp427=)
c.1283A= (p.Asp428=)
c.962A= (p.Asp321=)
c.1127A= (p.Asp376=)
c.*627A= (n.*627A=)
c.794A= (p.Asp265=)
c.1253A= (p.Asp418=)
c.1145A= (p.Asp382=)
c.1298A= (p.Asp433=)
c.1250A= (p.Asp417=)
c.1133A= (p.Asp378=)
c.1115A= (p.Asp372=)
3g.69964968A>CCA353559560MITFc.1235A>C (p.Asp412Ala)
c.1232A>C (p.Asp411Ala)
n.1457A>C
c.1208A>C (p.Asp403Ala)
c.*46A>C (n.*46A>C)
c.1301A>C (p.Asp434Ala)
c.980A>C (p.Asp327Ala)
c.1280A>C (p.Asp427Ala)
c.1283A>C (p.Asp428Ala)
c.962A>C (p.Asp321Ala)
c.1127A>C (p.Asp376Ala)
c.*627A>C (n.*627A>C)
c.794A>C (p.Asp265Ala)
c.1253A>C (p.Asp418Ala)
c.1145A>C (p.Asp382Ala)
c.1298A>C (p.Asp433Ala)
c.1250A>C (p.Asp417Ala)
c.1133A>C (p.Asp378Ala)
c.1115A>C (p.Asp372Ala)
3g.69964968A>GCA353559561MITFc.1235A>G (p.Asp412Gly)
c.1232A>G (p.Asp411Gly)
n.1457A>G
c.1208A>G (p.Asp403Gly)
c.*46A>G (n.*46A>G)
c.1301A>G (p.Asp434Gly)
c.980A>G (p.Asp327Gly)
c.1280A>G (p.Asp427Gly)
c.1283A>G (p.Asp428Gly)
c.962A>G (p.Asp321Gly)
c.1127A>G (p.Asp376Gly)
c.*627A>G (n.*627A>G)
c.794A>G (p.Asp265Gly)
c.1253A>G (p.Asp418Gly)
c.1145A>G (p.Asp382Gly)
c.1298A>G (p.Asp433Gly)
c.1250A>G (p.Asp417Gly)
c.1133A>G (p.Asp378Gly)
c.1115A>G (p.Asp372Gly)
 dbSNP gnomAD v4
3g.69964968A>TCA353559562MITFc.1235A>T (p.Asp412Val)
c.1232A>T (p.Asp411Val)
n.1457A>T
c.1208A>T (p.Asp403Val)
c.*46A>T (n.*46A>T)
c.1301A>T (p.Asp434Val)
c.980A>T (p.Asp327Val)
c.1280A>T (p.Asp427Val)
c.1283A>T (p.Asp428Val)
c.962A>T (p.Asp321Val)
c.1127A>T (p.Asp376Val)
c.*627A>T (n.*627A>T)
c.794A>T (p.Asp265Val)
c.1253A>T (p.Asp418Val)
c.1145A>T (p.Asp382Val)
c.1298A>T (p.Asp433Val)
c.1250A>T (p.Asp417Val)
c.1133A>T (p.Asp378Val)
c.1115A>T (p.Asp372Val)
3g.69964969C>ACA353559563MITFc.1236C>A (p.Asp412Glu)
c.1233C>A (p.Asp411Glu)
n.1458C>A
c.1209C>A (p.Asp403Glu)
c.*47C>A (n.*47C>A)
c.1302C>A (p.Asp434Glu)
c.981C>A (p.Asp327Glu)
c.1281C>A (p.Asp427Glu)
c.1284C>A (p.Asp428Glu)
c.963C>A (p.Asp321Glu)
c.1128C>A (p.Asp376Glu)
c.*628C>A (n.*628C>A)
c.795C>A (p.Asp265Glu)
c.1254C>A (p.Asp418Glu)
c.1146C>A (p.Asp382Glu)
c.1299C>A (p.Asp433Glu)
c.1251C>A (p.Asp417Glu)
c.1134C>A (p.Asp378Glu)
c.1116C>A (p.Asp372Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69964969C=CA1373414085MITFc.1236C= (p.Asp412=)
c.1233C= (p.Asp411=)
n.1458C=
c.1209C= (p.Asp403=)
c.*47C= (n.*47C=)
c.1302C= (p.Asp434=)
c.981C= (p.Asp327=)
c.1281C= (p.Asp427=)
c.1284C= (p.Asp428=)
c.963C= (p.Asp321=)
c.1128C= (p.Asp376=)
c.*628C= (n.*628C=)
c.795C= (p.Asp265=)
c.1254C= (p.Asp418=)
c.1146C= (p.Asp382=)
c.1299C= (p.Asp433=)
c.1251C= (p.Asp417=)
c.1134C= (p.Asp378=)
c.1116C= (p.Asp372=)
3g.69964969C>GCA353559564MITFc.1236C>G (p.Asp412Glu)
c.1233C>G (p.Asp411Glu)
n.1458C>G
c.1209C>G (p.Asp403Glu)
c.*47C>G (n.*47C>G)
c.1302C>G (p.Asp434Glu)
c.981C>G (p.Asp327Glu)
c.1281C>G (p.Asp427Glu)
c.1284C>G (p.Asp428Glu)
c.963C>G (p.Asp321Glu)
c.1128C>G (p.Asp376Glu)
c.*628C>G (n.*628C>G)
c.795C>G (p.Asp265Glu)
c.1254C>G (p.Asp418Glu)
c.1146C>G (p.Asp382Glu)
c.1299C>G (p.Asp433Glu)
c.1251C>G (p.Asp417Glu)
c.1134C>G (p.Asp378Glu)
c.1116C>G (p.Asp372Glu)
3g.69964969C>TCA434433649MITFc.1236C>T (p.Asp412=)
c.1233C>T (p.Asp411=)
n.1458C>T
c.1209C>T (p.Asp403=)
c.*47C>T (n.*47C>T)
c.1302C>T (p.Asp434=)
c.981C>T (p.Asp327=)
c.1281C>T (p.Asp427=)
c.1284C>T (p.Asp428=)
c.963C>T (p.Asp321=)
c.1128C>T (p.Asp376=)
c.*628C>T (n.*628C>T)
c.795C>T (p.Asp265=)
c.1254C>T (p.Asp418=)
c.1146C>T (p.Asp382=)
c.1299C>T (p.Asp433=)
c.1251C>T (p.Asp417=)
c.1134C>T (p.Asp378=)
c.1116C>T (p.Asp372=)
3g.69964970C>ACA353559565MITFc.1237C>A (p.Leu413Ile)
c.1234C>A (p.Leu412Ile)
n.1459C>A
c.1210C>A (p.Leu404Ile)
c.*48C>A (n.*48C>A)
c.1303C>A (p.Leu435Ile)
c.982C>A (p.Leu328Ile)
c.1282C>A (p.Leu428Ile)
c.1285C>A (p.Leu429Ile)
c.964C>A (p.Leu322Ile)
c.1129C>A (p.Leu377Ile)
c.*629C>A (n.*629C>A)
c.796C>A (p.Leu266Ile)
c.1255C>A (p.Leu419Ile)
c.1147C>A (p.Leu383Ile)
c.1300C>A (p.Leu434Ile)
c.1252C>A (p.Leu418Ile)
c.1135C>A (p.Leu379Ile)
c.1117C>A (p.Leu373Ile)
3g.69964970C>GCA353559566MITFc.1237C>G (p.Leu413Val)
c.1234C>G (p.Leu412Val)
n.1459C>G
c.1210C>G (p.Leu404Val)
c.*48C>G (n.*48C>G)
c.1303C>G (p.Leu435Val)
c.982C>G (p.Leu328Val)
c.1282C>G (p.Leu428Val)
c.1285C>G (p.Leu429Val)
c.964C>G (p.Leu322Val)
c.1129C>G (p.Leu377Val)
c.*629C>G (n.*629C>G)
c.796C>G (p.Leu266Val)
c.1255C>G (p.Leu419Val)
c.1147C>G (p.Leu383Val)
c.1300C>G (p.Leu434Val)
c.1252C>G (p.Leu418Val)
c.1135C>G (p.Leu379Val)
c.1117C>G (p.Leu373Val)
 ClinVar
3g.69964970C>TCA353559567MITFc.1237C>T (p.Leu413Phe)
c.1234C>T (p.Leu412Phe)
n.1459C>T
c.1210C>T (p.Leu404Phe)
c.*48C>T (n.*48C>T)
c.1303C>T (p.Leu435Phe)
c.982C>T (p.Leu328Phe)
c.1282C>T (p.Leu428Phe)
c.1285C>T (p.Leu429Phe)
c.964C>T (p.Leu322Phe)
c.1129C>T (p.Leu377Phe)
c.*629C>T (n.*629C>T)
c.796C>T (p.Leu266Phe)
c.1255C>T (p.Leu419Phe)
c.1147C>T (p.Leu383Phe)
c.1300C>T (p.Leu434Phe)
c.1252C>T (p.Leu418Phe)
c.1135C>T (p.Leu379Phe)
c.1117C>T (p.Leu373Phe)
 dbSNP
3g.69964971T>ACA353559570MITFc.1238T>A (p.Leu413His)
c.1235T>A (p.Leu412His)
n.1460T>A
c.1211T>A (p.Leu404His)
c.*49T>A (n.*49T>A)
c.1304T>A (p.Leu435His)
c.983T>A (p.Leu328His)
c.1283T>A (p.Leu428His)
c.1286T>A (p.Leu429His)
c.965T>A (p.Leu322His)
c.1130T>A (p.Leu377His)
c.*630T>A (n.*630T>A)
c.797T>A (p.Leu266His)
c.1256T>A (p.Leu419His)
c.1148T>A (p.Leu383His)
c.1301T>A (p.Leu434His)
c.1253T>A (p.Leu418His)
c.1136T>A (p.Leu379His)
c.1118T>A (p.Leu373His)
3g.69964971T>CCA353559569MITFc.1238T>C (p.Leu413Pro)
c.1235T>C (p.Leu412Pro)
n.1460T>C
c.1211T>C (p.Leu404Pro)
c.*49T>C (n.*49T>C)
c.1304T>C (p.Leu435Pro)
c.983T>C (p.Leu328Pro)
c.1283T>C (p.Leu428Pro)
c.1286T>C (p.Leu429Pro)
c.965T>C (p.Leu322Pro)
c.1130T>C (p.Leu377Pro)
c.*630T>C (n.*630T>C)
c.797T>C (p.Leu266Pro)
c.1256T>C (p.Leu419Pro)
c.1148T>C (p.Leu383Pro)
c.1301T>C (p.Leu434Pro)
c.1253T>C (p.Leu418Pro)
c.1136T>C (p.Leu379Pro)
c.1118T>C (p.Leu373Pro)
3g.69964971T>GCA353559568MITFc.1238T>G (p.Leu413Arg)
c.1235T>G (p.Leu412Arg)
n.1460T>G
c.1211T>G (p.Leu404Arg)
c.*49T>G (n.*49T>G)
c.1304T>G (p.Leu435Arg)
c.983T>G (p.Leu328Arg)
c.1283T>G (p.Leu428Arg)
c.1286T>G (p.Leu429Arg)
c.965T>G (p.Leu322Arg)
c.1130T>G (p.Leu377Arg)
c.*630T>G (n.*630T>G)
c.797T>G (p.Leu266Arg)
c.1256T>G (p.Leu419Arg)
c.1148T>G (p.Leu383Arg)
c.1301T>G (p.Leu434Arg)
c.1253T>G (p.Leu418Arg)
c.1136T>G (p.Leu379Arg)
c.1118T>G (p.Leu373Arg)
 ClinVar
3g.69964972C>ACA434433652MITFc.1239C>A (p.Leu413=)
c.1236C>A (p.Leu412=)
n.1461C>A
c.1212C>A (p.Leu404=)
c.*50C>A (n.*50C>A)
c.1305C>A (p.Leu435=)
c.984C>A (p.Leu328=)
c.1284C>A (p.Leu428=)
c.1287C>A (p.Leu429=)
c.966C>A (p.Leu322=)
c.1131C>A (p.Leu377=)
c.*631C>A (n.*631C>A)
c.798C>A (p.Leu266=)
c.1257C>A (p.Leu419=)
c.1149C>A (p.Leu383=)
c.1302C>A (p.Leu434=)
c.1254C>A (p.Leu418=)
c.1137C>A (p.Leu379=)
c.1119C>A (p.Leu373=)
3g.69964972C>GCA434433653MITFc.1239C>G (p.Leu413=)
c.1236C>G (p.Leu412=)
n.1461C>G
c.1212C>G (p.Leu404=)
c.*50C>G (n.*50C>G)
c.1305C>G (p.Leu435=)
c.984C>G (p.Leu328=)
c.1284C>G (p.Leu428=)
c.1287C>G (p.Leu429=)
c.966C>G (p.Leu322=)
c.1131C>G (p.Leu377=)
c.*631C>G (n.*631C>G)
c.798C>G (p.Leu266=)
c.1257C>G (p.Leu419=)
c.1149C>G (p.Leu383=)
c.1302C>G (p.Leu434=)
c.1254C>G (p.Leu418=)
c.1137C>G (p.Leu379=)
c.1119C>G (p.Leu373=)
3g.69964972C>TCA434433656MITFc.1239C>T (p.Leu413=)
c.1236C>T (p.Leu412=)
n.1461C>T
c.1212C>T (p.Leu404=)
c.*50C>T (n.*50C>T)
c.1305C>T (p.Leu435=)
c.984C>T (p.Leu328=)
c.1284C>T (p.Leu428=)
c.1287C>T (p.Leu429=)
c.966C>T (p.Leu322=)
c.1131C>T (p.Leu377=)
c.*631C>T (n.*631C>T)
c.798C>T (p.Leu266=)
c.1257C>T (p.Leu419=)
c.1149C>T (p.Leu383=)
c.1302C>T (p.Leu434=)
c.1254C>T (p.Leu418=)
c.1137C>T (p.Leu379=)
c.1119C>T (p.Leu373=)
 gnomAD v3 gnomAD v4
3g.69964973C>ACA353559571MITFc.1240C>A (p.Leu414Ile)
c.1237C>A (p.Leu413Ile)
n.1462C>A
c.1213C>A (p.Leu405Ile)
c.*51C>A (n.*51C>A)
c.1306C>A (p.Leu436Ile)
c.985C>A (p.Leu329Ile)
c.1285C>A (p.Leu429Ile)
c.1288C>A (p.Leu430Ile)
c.967C>A (p.Leu323Ile)
c.1132C>A (p.Leu378Ile)
c.*632C>A (n.*632C>A)
c.799C>A (p.Leu267Ile)
c.1258C>A (p.Leu420Ile)
c.1150C>A (p.Leu384Ile)
c.1303C>A (p.Leu435Ile)
c.1255C>A (p.Leu419Ile)
c.1138C>A (p.Leu380Ile)
c.1120C>A (p.Leu374Ile)
3g.69964973C>GCA353559572MITFc.1240C>G (p.Leu414Val)
c.1237C>G (p.Leu413Val)
n.1462C>G
c.1213C>G (p.Leu405Val)
c.*51C>G (n.*51C>G)
c.1306C>G (p.Leu436Val)
c.985C>G (p.Leu329Val)
c.1285C>G (p.Leu429Val)
c.1288C>G (p.Leu430Val)
c.967C>G (p.Leu323Val)
c.1132C>G (p.Leu378Val)
c.*632C>G (n.*632C>G)
c.799C>G (p.Leu267Val)
c.1258C>G (p.Leu420Val)
c.1150C>G (p.Leu384Val)
c.1303C>G (p.Leu435Val)
c.1255C>G (p.Leu419Val)
c.1138C>G (p.Leu380Val)
c.1120C>G (p.Leu374Val)
 gnomAD v3 gnomAD v4
3g.69964973C>TCA353559573MITFc.1240C>T (p.Leu414Phe)
c.1237C>T (p.Leu413Phe)
n.1462C>T
c.1213C>T (p.Leu405Phe)
c.*51C>T (n.*51C>T)
c.1306C>T (p.Leu436Phe)
c.985C>T (p.Leu329Phe)
c.1285C>T (p.Leu429Phe)
c.1288C>T (p.Leu430Phe)
c.967C>T (p.Leu323Phe)
c.1132C>T (p.Leu378Phe)
c.*632C>T (n.*632C>T)
c.799C>T (p.Leu267Phe)
c.1258C>T (p.Leu420Phe)
c.1150C>T (p.Leu384Phe)
c.1303C>T (p.Leu435Phe)
c.1255C>T (p.Leu419Phe)
c.1138C>T (p.Leu380Phe)
c.1120C>T (p.Leu374Phe)
 ClinVar dbSNP gnomAD v4
3g.69964974T>ACA353559574MITFc.1241T>A (p.Leu414His)
c.1238T>A (p.Leu413His)
n.1463T>A
c.1214T>A (p.Leu405His)
c.*52T>A (n.*52T>A)
c.1307T>A (p.Leu436His)
c.986T>A (p.Leu329His)
c.1286T>A (p.Leu429His)
c.1289T>A (p.Leu430His)
c.968T>A (p.Leu323His)
c.1133T>A (p.Leu378His)
c.*633T>A (n.*633T>A)
c.800T>A (p.Leu267His)
c.1259T>A (p.Leu420His)
c.1151T>A (p.Leu384His)
c.1304T>A (p.Leu435His)
c.1256T>A (p.Leu419His)
c.1139T>A (p.Leu380His)
c.1121T>A (p.Leu374His)
3g.69964974T>CCA353559575MITFc.1241T>C (p.Leu414Pro)
c.1238T>C (p.Leu413Pro)
n.1463T>C
c.1214T>C (p.Leu405Pro)
c.*52T>C (n.*52T>C)
c.1307T>C (p.Leu436Pro)
c.986T>C (p.Leu329Pro)
c.1286T>C (p.Leu429Pro)
c.1289T>C (p.Leu430Pro)
c.968T>C (p.Leu323Pro)
c.1133T>C (p.Leu378Pro)
c.*633T>C (n.*633T>C)
c.800T>C (p.Leu267Pro)
c.1259T>C (p.Leu420Pro)
c.1151T>C (p.Leu384Pro)
c.1304T>C (p.Leu435Pro)
c.1256T>C (p.Leu419Pro)
c.1139T>C (p.Leu380Pro)
c.1121T>C (p.Leu374Pro)
3g.69964974T>GCA77003521MITFc.1241T>G (p.Leu414Arg)
c.1238T>G (p.Leu413Arg)
n.1463T>G
c.1214T>G (p.Leu405Arg)
c.*52T>G (n.*52T>G)
c.1307T>G (p.Leu436Arg)
c.986T>G (p.Leu329Arg)
c.1286T>G (p.Leu429Arg)
c.1289T>G (p.Leu430Arg)
c.968T>G (p.Leu323Arg)
c.1133T>G (p.Leu378Arg)
c.*633T>G (n.*633T>G)
c.800T>G (p.Leu267Arg)
c.1259T>G (p.Leu420Arg)
c.1151T>G (p.Leu384Arg)
c.1304T>G (p.Leu435Arg)
c.1256T>G (p.Leu419Arg)
c.1139T>G (p.Leu380Arg)
c.1121T>G (p.Leu374Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.69964974T=CA1373414087MITFc.1241T= (p.Leu414=)
c.1238T= (p.Leu413=)
n.1463T=
c.1214T= (p.Leu405=)
c.*52T= (n.*52T=)
c.1307T= (p.Leu436=)
c.986T= (p.Leu329=)
c.1286T= (p.Leu429=)
c.1289T= (p.Leu430=)
c.968T= (p.Leu323=)
c.1133T= (p.Leu378=)
c.*633T= (n.*633T=)
c.800T= (p.Leu267=)
c.1259T= (p.Leu420=)
c.1151T= (p.Leu384=)
c.1304T= (p.Leu435=)
c.1256T= (p.Leu419=)
c.1139T= (p.Leu380=)
c.1121T= (p.Leu374=)
3g.69964975T>ACA434433659MITFc.1242T>A (p.Leu414=)
c.1239T>A (p.Leu413=)
n.1464T>A
c.1215T>A (p.Leu405=)
c.*53T>A (n.*53T>A)
c.1308T>A (p.Leu436=)
c.987T>A (p.Leu329=)
c.1287T>A (p.Leu429=)
c.1290T>A (p.Leu430=)
c.969T>A (p.Leu323=)
c.1134T>A (p.Leu378=)
c.*634T>A (n.*634T>A)
c.801T>A (p.Leu267=)
c.1260T>A (p.Leu420=)
c.1152T>A (p.Leu384=)
c.1305T>A (p.Leu435=)
c.1257T>A (p.Leu419=)
c.1140T>A (p.Leu380=)
c.1122T>A (p.Leu374=)
 gnomAD v3 gnomAD v4
3g.69964975T>CCA434433660MITFc.1242T>C (p.Leu414=)
c.1239T>C (p.Leu413=)
n.1464T>C
c.1215T>C (p.Leu405=)
c.*53T>C (n.*53T>C)
c.1308T>C (p.Leu436=)
c.987T>C (p.Leu329=)
c.1287T>C (p.Leu429=)
c.1290T>C (p.Leu430=)
c.969T>C (p.Leu323=)
c.1134T>C (p.Leu378=)
c.*634T>C (n.*634T>C)
c.801T>C (p.Leu267=)
c.1260T>C (p.Leu420=)
c.1152T>C (p.Leu384=)
c.1305T>C (p.Leu435=)
c.1257T>C (p.Leu419=)
c.1140T>C (p.Leu380=)
c.1122T>C (p.Leu374=)
3g.69964975T>GCA434433661MITFc.1242T>G (p.Leu414=)
c.1239T>G (p.Leu413=)
n.1464T>G
c.1215T>G (p.Leu405=)
c.*53T>G (n.*53T>G)
c.1308T>G (p.Leu436=)
c.987T>G (p.Leu329=)
c.1287T>G (p.Leu429=)
c.1290T>G (p.Leu430=)
c.969T>G (p.Leu323=)
c.1134T>G (p.Leu378=)
c.*634T>G (n.*634T>G)
c.801T>G (p.Leu267=)
c.1260T>G (p.Leu420=)
c.1152T>G (p.Leu384=)
c.1305T>G (p.Leu435=)
c.1257T>G (p.Leu419=)
c.1140T>G (p.Leu380=)
c.1122T>G (p.Leu374=)
3g.69964976C>ACA353559578MITFc.1243C>A (p.Gln415Lys)
c.1240C>A (p.Gln414Lys)
n.1465C>A
c.1216C>A (p.Gln406Lys)
c.*54C>A (n.*54C>A)
c.1309C>A (p.Gln437Lys)
c.988C>A (p.Gln330Lys)
c.1288C>A (p.Gln430Lys)
c.1291C>A (p.Gln431Lys)
c.970C>A (p.Gln324Lys)
c.1135C>A (p.Gln379Lys)
c.*635C>A (n.*635C>A)
c.802C>A (p.Gln268Lys)
c.1261C>A (p.Gln421Lys)
c.1153C>A (p.Gln385Lys)
c.1306C>A (p.Gln436Lys)
c.1258C>A (p.Gln420Lys)
c.1141C>A (p.Gln381Lys)
c.1123C>A (p.Gln375Lys)
3g.69964976C>GCA353559576MITFc.1243C>G (p.Gln415Glu)
c.1240C>G (p.Gln414Glu)
n.1465C>G
c.1216C>G (p.Gln406Glu)
c.*54C>G (n.*54C>G)
c.1309C>G (p.Gln437Glu)
c.988C>G (p.Gln330Glu)
c.1288C>G (p.Gln430Glu)
c.1291C>G (p.Gln431Glu)
c.970C>G (p.Gln324Glu)
c.1135C>G (p.Gln379Glu)
c.*635C>G (n.*635C>G)
c.802C>G (p.Gln268Glu)
c.1261C>G (p.Gln421Glu)
c.1153C>G (p.Gln385Glu)
c.1306C>G (p.Gln436Glu)
c.1258C>G (p.Gln420Glu)
c.1141C>G (p.Gln381Glu)
c.1123C>G (p.Gln375Glu)
3g.69964976C>TCA353559577MITFc.1243C>T (p.Gln415Ter)
c.1240C>T (p.Gln414Ter)
n.1465C>T
c.1216C>T (p.Gln406Ter)
c.*54C>T (n.*54C>T)
c.1309C>T (p.Gln437Ter)
c.988C>T (p.Gln330Ter)
c.1288C>T (p.Gln430Ter)
c.1291C>T (p.Gln431Ter)
c.970C>T (p.Gln324Ter)
c.1135C>T (p.Gln379Ter)
c.*635C>T (n.*635C>T)
c.802C>T (p.Gln268Ter)
c.1261C>T (p.Gln421Ter)
c.1153C>T (p.Gln385Ter)
c.1306C>T (p.Gln436Ter)
c.1258C>T (p.Gln420Ter)
c.1141C>T (p.Gln381Ter)
c.1123C>T (p.Gln375Ter)
 dbSNP
3g.69964977A=CA1373414089MITFc.1244A= (p.Gln415=)
c.1241A= (p.Gln414=)
n.1466A=
c.1217A= (p.Gln406=)
c.*55A= (n.*55A=)
c.1310A= (p.Gln437=)
c.989A= (p.Gln330=)
c.1289A= (p.Gln430=)
c.1292A= (p.Gln431=)
c.971A= (p.Gln324=)
c.1136A= (p.Gln379=)
c.*636A= (n.*636A=)
c.803A= (p.Gln268=)
c.1262A= (p.Gln421=)
c.1154A= (p.Gln385=)
c.1307A= (p.Gln436=)
c.1259A= (p.Gln420=)
c.1142A= (p.Gln381=)
c.1124A= (p.Gln375=)
3g.69964977A>CCA353559579MITFc.1244A>C (p.Gln415Pro)
c.1241A>C (p.Gln414Pro)
n.1466A>C
c.1217A>C (p.Gln406Pro)
c.*55A>C (n.*55A>C)
c.1310A>C (p.Gln437Pro)
c.989A>C (p.Gln330Pro)
c.1289A>C (p.Gln430Pro)
c.1292A>C (p.Gln431Pro)
c.971A>C (p.Gln324Pro)
c.1136A>C (p.Gln379Pro)
c.*636A>C (n.*636A>C)
c.803A>C (p.Gln268Pro)
c.1262A>C (p.Gln421Pro)
c.1154A>C (p.Gln385Pro)
c.1307A>C (p.Gln436Pro)
c.1259A>C (p.Gln420Pro)
c.1142A>C (p.Gln381Pro)
c.1124A>C (p.Gln375Pro)
3g.69964977A>GCA353559580MITFc.1244A>G (p.Gln415Arg)
c.1241A>G (p.Gln414Arg)
n.1466A>G
c.1217A>G (p.Gln406Arg)
c.*55A>G (n.*55A>G)
c.1310A>G (p.Gln437Arg)
c.989A>G (p.Gln330Arg)
c.1289A>G (p.Gln430Arg)
c.1292A>G (p.Gln431Arg)
c.971A>G (p.Gln324Arg)
c.1136A>G (p.Gln379Arg)
c.*636A>G (n.*636A>G)
c.803A>G (p.Gln268Arg)
c.1262A>G (p.Gln421Arg)
c.1154A>G (p.Gln385Arg)
c.1307A>G (p.Gln436Arg)
c.1259A>G (p.Gln420Arg)
c.1142A>G (p.Gln381Arg)
c.1124A>G (p.Gln375Arg)
 dbSNP
3g.69964977A>TCA353559581MITFc.1244A>T (p.Gln415Leu)
c.1241A>T (p.Gln414Leu)
n.1466A>T
c.1217A>T (p.Gln406Leu)
c.*55A>T (n.*55A>T)
c.1310A>T (p.Gln437Leu)
c.989A>T (p.Gln330Leu)
c.1289A>T (p.Gln430Leu)
c.1292A>T (p.Gln431Leu)
c.971A>T (p.Gln324Leu)
c.1136A>T (p.Gln379Leu)
c.*636A>T (n.*636A>T)
c.803A>T (p.Gln268Leu)
c.1262A>T (p.Gln421Leu)
c.1154A>T (p.Gln385Leu)
c.1307A>T (p.Gln436Leu)
c.1259A>T (p.Gln420Leu)
c.1142A>T (p.Gln381Leu)
c.1124A>T (p.Gln375Leu)
 dbSNP gnomAD v4
3g.69964978G>ACA434433668MITFc.1245G>A (p.Gln415=)
c.1242G>A (p.Gln414=)
n.1467G>A
c.1218G>A (p.Gln406=)
c.*56G>A (n.*56G>A)
c.1311G>A (p.Gln437=)
c.990G>A (p.Gln330=)
c.1290G>A (p.Gln430=)
c.1293G>A (p.Gln431=)
c.972G>A (p.Gln324=)
c.1137G>A (p.Gln379=)
c.*637G>A (n.*637G>A)
c.804G>A (p.Gln268=)
c.1263G>A (p.Gln421=)
c.1155G>A (p.Gln385=)
c.1308G>A (p.Gln436=)
c.1260G>A (p.Gln420=)
c.1143G>A (p.Gln381=)
c.1125G>A (p.Gln375=)
 dbSNP gnomAD v2 gnomAD v4
3g.69964978G>CCA353559582MITFc.1245G>C (p.Gln415His)
c.1242G>C (p.Gln414His)
n.1467G>C
c.1218G>C (p.Gln406His)
c.*56G>C (n.*56G>C)
c.1311G>C (p.Gln437His)
c.990G>C (p.Gln330His)
c.1290G>C (p.Gln430His)
c.1293G>C (p.Gln431His)
c.972G>C (p.Gln324His)
c.1137G>C (p.Gln379His)
c.*637G>C (n.*637G>C)
c.804G>C (p.Gln268His)
c.1263G>C (p.Gln421His)
c.1155G>C (p.Gln385His)
c.1308G>C (p.Gln436His)
c.1260G>C (p.Gln420His)
c.1143G>C (p.Gln381His)
c.1125G>C (p.Gln375His)
3g.69964978G=CA1373414095MITFc.1245G= (p.Gln415=)
c.1242G= (p.Gln414=)
n.1467G=
c.1218G= (p.Gln406=)
c.*56G= (n.*56G=)
c.1311G= (p.Gln437=)
c.990G= (p.Gln330=)
c.1290G= (p.Gln430=)
c.1293G= (p.Gln431=)
c.972G= (p.Gln324=)
c.1137G= (p.Gln379=)
c.*637G= (n.*637G=)
c.804G= (p.Gln268=)
c.1263G= (p.Gln421=)
c.1155G= (p.Gln385=)
c.1308G= (p.Gln436=)
c.1260G= (p.Gln420=)
c.1143G= (p.Gln381=)
c.1125G= (p.Gln375=)
3g.69964978G>TCA353559583MITFc.1245G>T (p.Gln415His)
c.1242G>T (p.Gln414His)
n.1467G>T
c.1218G>T (p.Gln406His)
c.*56G>T (n.*56G>T)
c.1311G>T (p.Gln437His)
c.990G>T (p.Gln330His)
c.1290G>T (p.Gln430His)
c.1293G>T (p.Gln431His)
c.972G>T (p.Gln324His)
c.1137G>T (p.Gln379His)
c.*637G>T (n.*637G>T)
c.804G>T (p.Gln268His)
c.1263G>T (p.Gln421His)
c.1155G>T (p.Gln385His)
c.1308G>T (p.Gln436His)
c.1260G>T (p.Gln420His)
c.1143G>T (p.Gln381His)
c.1125G>T (p.Gln375His)
 gnomAD v4
3g.69964979C>ACA2490638MITFc.1246C>A (p.His416Asn)
c.1243C>A (p.His415Asn)
n.1468C>A
c.1219C>A (p.His407Asn)
c.*57C>A (n.*57C>A)
c.1312C>A (p.His438Asn)
c.991C>A (p.His331Asn)
c.1291C>A (p.His431Asn)
c.1294C>A (p.His432Asn)
c.973C>A (p.His325Asn)
c.1138C>A (p.His380Asn)
c.*638C>A (n.*638C>A)
c.805C>A (p.His269Asn)
c.1264C>A (p.His422Asn)
c.1156C>A (p.His386Asn)
c.1309C>A (p.His437Asn)
c.1261C>A (p.His421Asn)
c.1144C>A (p.His382Asn)
c.1126C>A (p.His376Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964979C=CA1373414099MITFc.1246C= (p.His416=)
c.1243C= (p.His415=)
n.1468C=
c.1219C= (p.His407=)
c.*57C= (n.*57C=)
c.1312C= (p.His438=)
c.991C= (p.His331=)
c.1291C= (p.His431=)
c.1294C= (p.His432=)
c.973C= (p.His325=)
c.1138C= (p.His380=)
c.*638C= (n.*638C=)
c.805C= (p.His269=)
c.1264C= (p.His422=)
c.1156C= (p.His386=)
c.1309C= (p.His437=)
c.1261C= (p.His421=)
c.1144C= (p.His382=)
c.1126C= (p.His376=)
3g.69964979C>GCA353559585MITFc.1246C>G (p.His416Asp)
c.1243C>G (p.His415Asp)
n.1468C>G
c.1219C>G (p.His407Asp)
c.*57C>G (n.*57C>G)
c.1312C>G (p.His438Asp)
c.991C>G (p.His331Asp)
c.1291C>G (p.His431Asp)
c.1294C>G (p.His432Asp)
c.973C>G (p.His325Asp)
c.1138C>G (p.His380Asp)
c.*638C>G (n.*638C>G)
c.805C>G (p.His269Asp)
c.1264C>G (p.His422Asp)
c.1156C>G (p.His386Asp)
c.1309C>G (p.His437Asp)
c.1261C>G (p.His421Asp)
c.1144C>G (p.His382Asp)
c.1126C>G (p.His376Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.69964979C>TCA353559584MITFc.1246C>T (p.His416Tyr)
c.1243C>T (p.His415Tyr)
n.1468C>T
c.1219C>T (p.His407Tyr)
c.*57C>T (n.*57C>T)
c.1312C>T (p.His438Tyr)
c.991C>T (p.His331Tyr)
c.1291C>T (p.His431Tyr)
c.1294C>T (p.His432Tyr)
c.973C>T (p.His325Tyr)
c.1138C>T (p.His380Tyr)
c.*638C>T (n.*638C>T)
c.805C>T (p.His269Tyr)
c.1264C>T (p.His422Tyr)
c.1156C>T (p.His386Tyr)
c.1309C>T (p.His437Tyr)
c.1261C>T (p.His421Tyr)
c.1144C>T (p.His382Tyr)
c.1126C>T (p.His376Tyr)
3g.69964980A=CA1373414102MITFc.1247A= (p.His416=)
c.1244A= (p.His415=)
n.1469A=
c.1220A= (p.His407=)
c.*58A= (n.*58A=)
c.1313A= (p.His438=)
c.992A= (p.His331=)
c.1292A= (p.His431=)
c.1295A= (p.His432=)
c.974A= (p.His325=)
c.1139A= (p.His380=)
c.*639A= (n.*639A=)
c.806A= (p.His269=)
c.1265A= (p.His422=)
c.1157A= (p.His386=)
c.1310A= (p.His437=)
c.1262A= (p.His421=)
c.1145A= (p.His382=)
c.1127A= (p.His376=)
3g.69964980A>CCA353559586MITFc.1247A>C (p.His416Pro)
c.1244A>C (p.His415Pro)
n.1469A>C
c.1220A>C (p.His407Pro)
c.*58A>C (n.*58A>C)
c.1313A>C (p.His438Pro)
c.992A>C (p.His331Pro)
c.1292A>C (p.His431Pro)
c.1295A>C (p.His432Pro)
c.974A>C (p.His325Pro)
c.1139A>C (p.His380Pro)
c.*639A>C (n.*639A>C)
c.806A>C (p.His269Pro)
c.1265A>C (p.His422Pro)
c.1157A>C (p.His386Pro)
c.1310A>C (p.His437Pro)
c.1262A>C (p.His421Pro)
c.1145A>C (p.His382Pro)
c.1127A>C (p.His376Pro)
3g.69964980A>GCA353559587MITFc.1247A>G (p.His416Arg)
c.1244A>G (p.His415Arg)
n.1469A>G
c.1220A>G (p.His407Arg)
c.*58A>G (n.*58A>G)
c.1313A>G (p.His438Arg)
c.992A>G (p.His331Arg)
c.1292A>G (p.His431Arg)
c.1295A>G (p.His432Arg)
c.974A>G (p.His325Arg)
c.1139A>G (p.His380Arg)
c.*639A>G (n.*639A>G)
c.806A>G (p.His269Arg)
c.1265A>G (p.His422Arg)
c.1157A>G (p.His386Arg)
c.1310A>G (p.His437Arg)
c.1262A>G (p.His421Arg)
c.1145A>G (p.His382Arg)
c.1127A>G (p.His376Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69964980A>TCA353559588MITFc.1247A>T (p.His416Leu)
c.1244A>T (p.His415Leu)
n.1469A>T
c.1220A>T (p.His407Leu)
c.*58A>T (n.*58A>T)
c.1313A>T (p.His438Leu)
c.992A>T (p.His331Leu)
c.1292A>T (p.His431Leu)
c.1295A>T (p.His432Leu)
c.974A>T (p.His325Leu)
c.1139A>T (p.His380Leu)
c.*639A>T (n.*639A>T)
c.806A>T (p.His269Leu)
c.1265A>T (p.His422Leu)
c.1157A>T (p.His386Leu)
c.1310A>T (p.His437Leu)
c.1262A>T (p.His421Leu)
c.1145A>T (p.His382Leu)
c.1127A>T (p.His376Leu)
 gnomAD v4
3g.69964981T>ACA353559589MITFc.1248T>A (p.His416Gln)
c.1245T>A (p.His415Gln)
n.1470T>A
c.1221T>A (p.His407Gln)
c.*59T>A (n.*59T>A)
c.1314T>A (p.His438Gln)
c.993T>A (p.His331Gln)
c.1293T>A (p.His431Gln)
c.1296T>A (p.His432Gln)
c.975T>A (p.His325Gln)
c.1140T>A (p.His380Gln)
c.*640T>A (n.*640T>A)
c.807T>A (p.His269Gln)
c.1266T>A (p.His422Gln)
c.1158T>A (p.His386Gln)
c.1311T>A (p.His437Gln)
c.1263T>A (p.His421Gln)
c.1146T>A (p.His382Gln)
c.1128T>A (p.His376Gln)
3g.69964981T>CCA434433670MITFc.1248T>C (p.His416=)
c.1245T>C (p.His415=)
n.1470T>C
c.1221T>C (p.His407=)
c.*59T>C (n.*59T>C)
c.1314T>C (p.His438=)
c.993T>C (p.His331=)
c.1293T>C (p.His431=)
c.1296T>C (p.His432=)
c.975T>C (p.His325=)
c.1140T>C (p.His380=)
c.*640T>C (n.*640T>C)
c.807T>C (p.His269=)
c.1266T>C (p.His422=)
c.1158T>C (p.His386=)
c.1311T>C (p.His437=)
c.1263T>C (p.His421=)
c.1146T>C (p.His382=)
c.1128T>C (p.His376=)
 gnomAD v3 gnomAD v4
3g.69964981T>GCA353559590MITFc.1248T>G (p.His416Gln)
c.1245T>G (p.His415Gln)
n.1470T>G
c.1221T>G (p.His407Gln)
c.*59T>G (n.*59T>G)
c.1314T>G (p.His438Gln)
c.993T>G (p.His331Gln)
c.1293T>G (p.His431Gln)
c.1296T>G (p.His432Gln)
c.975T>G (p.His325Gln)
c.1140T>G (p.His380Gln)
c.*640T>G (n.*640T>G)
c.807T>G (p.His269Gln)
c.1266T>G (p.His422Gln)
c.1158T>G (p.His386Gln)
c.1311T>G (p.His437Gln)
c.1263T>G (p.His421Gln)
c.1146T>G (p.His382Gln)
c.1128T>G (p.His376Gln)
3g.69964982C>ACA353559591MITFc.1249C>A (p.His417Asn)
c.1246C>A (p.His416Asn)
n.1471C>A
c.1222C>A (p.His408Asn)
c.*60C>A (n.*60C>A)
c.1315C>A (p.His439Asn)
c.994C>A (p.His332Asn)
c.1294C>A (p.His432Asn)
c.1297C>A (p.His433Asn)
c.976C>A (p.His326Asn)
c.1141C>A (p.His381Asn)
c.*641C>A (n.*641C>A)
c.808C>A (p.His270Asn)
c.1267C>A (p.His423Asn)
c.1159C>A (p.His387Asn)
c.1312C>A (p.His438Asn)
c.1264C>A (p.His422Asn)
c.1147C>A (p.His383Asn)
c.1129C>A (p.His377Asn)
 dbSNP
3g.69964982C=CA1373414104MITFc.1249C= (p.His417=)
c.1246C= (p.His416=)
n.1471C=
c.1222C= (p.His408=)
c.*60C= (n.*60C=)
c.1315C= (p.His439=)
c.994C= (p.His332=)
c.1294C= (p.His432=)
c.1297C= (p.His433=)
c.976C= (p.His326=)
c.1141C= (p.His381=)
c.*641C= (n.*641C=)
c.808C= (p.His270=)
c.1267C= (p.His423=)
c.1159C= (p.His387=)
c.1312C= (p.His438=)
c.1264C= (p.His422=)
c.1147C= (p.His383=)
c.1129C= (p.His377=)
3g.69964982C>GCA2490639MITFc.1249C>G (p.His417Asp)
c.1246C>G (p.His416Asp)
n.1471C>G
c.1222C>G (p.His408Asp)
c.*60C>G (n.*60C>G)
c.1315C>G (p.His439Asp)
c.994C>G (p.His332Asp)
c.1294C>G (p.His432Asp)
c.1297C>G (p.His433Asp)
c.976C>G (p.His326Asp)
c.1141C>G (p.His381Asp)
c.*641C>G (n.*641C>G)
c.808C>G (p.His270Asp)
c.1267C>G (p.His423Asp)
c.1159C>G (p.His387Asp)
c.1312C>G (p.His438Asp)
c.1264C>G (p.His422Asp)
c.1147C>G (p.His383Asp)
c.1129C>G (p.His377Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964982C>TCA353559592MITFc.1249C>T (p.His417Tyr)
c.1246C>T (p.His416Tyr)
n.1471C>T
c.1222C>T (p.His408Tyr)
c.*60C>T (n.*60C>T)
c.1315C>T (p.His439Tyr)
c.994C>T (p.His332Tyr)
c.1294C>T (p.His432Tyr)
c.1297C>T (p.His433Tyr)
c.976C>T (p.His326Tyr)
c.1141C>T (p.His381Tyr)
c.*641C>T (n.*641C>T)
c.808C>T (p.His270Tyr)
c.1267C>T (p.His423Tyr)
c.1159C>T (p.His387Tyr)
c.1312C>T (p.His438Tyr)
c.1264C>T (p.His422Tyr)
c.1147C>T (p.His383Tyr)
c.1129C>T (p.His377Tyr)
 gnomAD v4
3g.69964983A=CA1373414107MITFc.1250A= (p.His417=)
c.1247A= (p.His416=)
n.1472A=
c.1223A= (p.His408=)
c.*61A= (n.*61A=)
c.1316A= (p.His439=)
c.995A= (p.His332=)
c.1295A= (p.His432=)
c.1298A= (p.His433=)
c.977A= (p.His326=)
c.1142A= (p.His381=)
c.*642A= (n.*642A=)
c.809A= (p.His270=)
c.1268A= (p.His423=)
c.1160A= (p.His387=)
c.1313A= (p.His438=)
c.1265A= (p.His422=)
c.1148A= (p.His383=)
c.1130A= (p.His377=)
3g.69964983A>CCA353559593MITFc.1250A>C (p.His417Pro)
c.1247A>C (p.His416Pro)
n.1472A>C
c.1223A>C (p.His408Pro)
c.*61A>C (n.*61A>C)
c.1316A>C (p.His439Pro)
c.995A>C (p.His332Pro)
c.1295A>C (p.His432Pro)
c.1298A>C (p.His433Pro)
c.977A>C (p.His326Pro)
c.1142A>C (p.His381Pro)
c.*642A>C (n.*642A>C)
c.809A>C (p.His270Pro)
c.1268A>C (p.His423Pro)
c.1160A>C (p.His387Pro)
c.1313A>C (p.His438Pro)
c.1265A>C (p.His422Pro)
c.1148A>C (p.His383Pro)
c.1130A>C (p.His377Pro)
3g.69964983A>GCA2490640MITFc.1250A>G (p.His417Arg)
c.1247A>G (p.His416Arg)
n.1472A>G
c.1223A>G (p.His408Arg)
c.*61A>G (n.*61A>G)
c.1316A>G (p.His439Arg)
c.995A>G (p.His332Arg)
c.1295A>G (p.His432Arg)
c.1298A>G (p.His433Arg)
c.977A>G (p.His326Arg)
c.1142A>G (p.His381Arg)
c.*642A>G (n.*642A>G)
c.809A>G (p.His270Arg)
c.1268A>G (p.His423Arg)
c.1160A>G (p.His387Arg)
c.1313A>G (p.His438Arg)
c.1265A>G (p.His422Arg)
c.1148A>G (p.His383Arg)
c.1130A>G (p.His377Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964983A>TCA353559594MITFc.1250A>T (p.His417Leu)
c.1247A>T (p.His416Leu)
n.1472A>T
c.1223A>T (p.His408Leu)
c.*61A>T (n.*61A>T)
c.1316A>T (p.His439Leu)
c.995A>T (p.His332Leu)
c.1295A>T (p.His432Leu)
c.1298A>T (p.His433Leu)
c.977A>T (p.His326Leu)
c.1142A>T (p.His381Leu)
c.*642A>T (n.*642A>T)
c.809A>T (p.His270Leu)
c.1268A>T (p.His423Leu)
c.1160A>T (p.His387Leu)
c.1313A>T (p.His438Leu)
c.1265A>T (p.His422Leu)
c.1148A>T (p.His383Leu)
c.1130A>T (p.His377Leu)
3g.69964984T>ACA353559596MITFc.1251T>A (p.His417Gln)
c.1248T>A (p.His416Gln)
n.1473T>A
c.1224T>A (p.His408Gln)
c.*62T>A (n.*62T>A)
c.1317T>A (p.His439Gln)
c.996T>A (p.His332Gln)
c.1296T>A (p.His432Gln)
c.1299T>A (p.His433Gln)
c.978T>A (p.His326Gln)
c.1143T>A (p.His381Gln)
c.*643T>A (n.*643T>A)
c.810T>A (p.His270Gln)
c.1269T>A (p.His423Gln)
c.1161T>A (p.His387Gln)
c.1314T>A (p.His438Gln)
c.1266T>A (p.His422Gln)
c.1149T>A (p.His383Gln)
c.1131T>A (p.His377Gln)
3g.69964984T>CCA434433676MITFc.1251T>C (p.His417=)
c.1248T>C (p.His416=)
n.1473T>C
c.1224T>C (p.His408=)
c.*62T>C (n.*62T>C)
c.1317T>C (p.His439=)
c.996T>C (p.His332=)
c.1296T>C (p.His432=)
c.1299T>C (p.His433=)
c.978T>C (p.His326=)
c.1143T>C (p.His381=)
c.*643T>C (n.*643T>C)
c.810T>C (p.His270=)
c.1269T>C (p.His423=)
c.1161T>C (p.His387=)
c.1314T>C (p.His438=)
c.1266T>C (p.His422=)
c.1149T>C (p.His383=)
c.1131T>C (p.His377=)
 ClinVar
3g.69964984T>GCA353559595MITFc.1251T>G (p.His417Gln)
c.1248T>G (p.His416Gln)
n.1473T>G
c.1224T>G (p.His408Gln)
c.*62T>G (n.*62T>G)
c.1317T>G (p.His439Gln)
c.996T>G (p.His332Gln)
c.1296T>G (p.His432Gln)
c.1299T>G (p.His433Gln)
c.978T>G (p.His326Gln)
c.1143T>G (p.His381Gln)
c.*643T>G (n.*643T>G)
c.810T>G (p.His270Gln)
c.1269T>G (p.His423Gln)
c.1161T>G (p.His387Gln)
c.1314T>G (p.His438Gln)
c.1266T>G (p.His422Gln)
c.1149T>G (p.His383Gln)
c.1131T>G (p.His377Gln)
3g.69964985G>ACA353559597MITFc.1252G>A (p.Ala418Thr)
c.1249G>A (p.Ala417Thr)
n.1474G>A
c.1225G>A (p.Ala409Thr)
c.*63G>A (n.*63G>A)
c.1318G>A (p.Ala440Thr)
c.997G>A (p.Ala333Thr)
c.1297G>A (p.Ala433Thr)
c.1300G>A (p.Ala434Thr)
c.979G>A (p.Ala327Thr)
c.1144G>A (p.Ala382Thr)
c.*644G>A (n.*644G>A)
c.811G>A (p.Ala271Thr)
c.1270G>A (p.Ala424Thr)
c.1162G>A (p.Ala388Thr)
c.1315G>A (p.Ala439Thr)
c.1267G>A (p.Ala423Thr)
c.1150G>A (p.Ala384Thr)
c.1132G>A (p.Ala378Thr)
 dbSNP
3g.69964985G>CCA353559599MITFc.1252G>C (p.Ala418Pro)
c.1249G>C (p.Ala417Pro)
n.1474G>C
c.1225G>C (p.Ala409Pro)
c.*63G>C (n.*63G>C)
c.1318G>C (p.Ala440Pro)
c.997G>C (p.Ala333Pro)
c.1297G>C (p.Ala433Pro)
c.1300G>C (p.Ala434Pro)
c.979G>C (p.Ala327Pro)
c.1144G>C (p.Ala382Pro)
c.*644G>C (n.*644G>C)
c.811G>C (p.Ala271Pro)
c.1270G>C (p.Ala424Pro)
c.1162G>C (p.Ala388Pro)
c.1315G>C (p.Ala439Pro)
c.1267G>C (p.Ala423Pro)
c.1150G>C (p.Ala384Pro)
c.1132G>C (p.Ala378Pro)
3g.69964985G>TCA353559598MITFc.1252G>T (p.Ala418Ser)
c.1249G>T (p.Ala417Ser)
n.1474G>T
c.1225G>T (p.Ala409Ser)
c.*63G>T (n.*63G>T)
c.1318G>T (p.Ala440Ser)
c.997G>T (p.Ala333Ser)
c.1297G>T (p.Ala433Ser)
c.1300G>T (p.Ala434Ser)
c.979G>T (p.Ala327Ser)
c.1144G>T (p.Ala382Ser)
c.*644G>T (n.*644G>T)
c.811G>T (p.Ala271Ser)
c.1270G>T (p.Ala424Ser)
c.1162G>T (p.Ala388Ser)
c.1315G>T (p.Ala439Ser)
c.1267G>T (p.Ala423Ser)
c.1150G>T (p.Ala384Ser)
c.1132G>T (p.Ala378Ser)
3g.69964986C>ACA353559600MITFc.1253C>A (p.Ala418Glu)
c.1250C>A (p.Ala417Glu)
n.1475C>A
c.1226C>A (p.Ala409Glu)
c.*64C>A (n.*64C>A)
c.1319C>A (p.Ala440Glu)
c.998C>A (p.Ala333Glu)
c.1298C>A (p.Ala433Glu)
c.1301C>A (p.Ala434Glu)
c.980C>A (p.Ala327Glu)
c.1145C>A (p.Ala382Glu)
c.*645C>A (n.*645C>A)
c.812C>A (p.Ala271Glu)
c.1271C>A (p.Ala424Glu)
c.1163C>A (p.Ala388Glu)
c.1316C>A (p.Ala439Glu)
c.1268C>A (p.Ala423Glu)
c.1151C>A (p.Ala384Glu)
c.1133C>A (p.Ala378Glu)
3g.69964986C=CA1373414109MITFc.1253C= (p.Ala418=)
c.1250C= (p.Ala417=)
n.1475C=
c.1226C= (p.Ala409=)
c.*64C= (n.*64C=)
c.1319C= (p.Ala440=)
c.998C= (p.Ala333=)
c.1298C= (p.Ala433=)
c.1301C= (p.Ala434=)
c.980C= (p.Ala327=)
c.1145C= (p.Ala382=)
c.*645C= (n.*645C=)
c.812C= (p.Ala271=)
c.1271C= (p.Ala424=)
c.1163C= (p.Ala388=)
c.1316C= (p.Ala439=)
c.1268C= (p.Ala423=)
c.1151C= (p.Ala384=)
c.1133C= (p.Ala378=)
3g.69964986C>GCA353559601MITFc.1253C>G (p.Ala418Gly)
c.1250C>G (p.Ala417Gly)
n.1475C>G
c.1226C>G (p.Ala409Gly)
c.*64C>G (n.*64C>G)
c.1319C>G (p.Ala440Gly)
c.998C>G (p.Ala333Gly)
c.1298C>G (p.Ala433Gly)
c.1301C>G (p.Ala434Gly)
c.980C>G (p.Ala327Gly)
c.1145C>G (p.Ala382Gly)
c.*645C>G (n.*645C>G)
c.812C>G (p.Ala271Gly)
c.1271C>G (p.Ala424Gly)
c.1163C>G (p.Ala388Gly)
c.1316C>G (p.Ala439Gly)
c.1268C>G (p.Ala423Gly)
c.1151C>G (p.Ala384Gly)
c.1133C>G (p.Ala378Gly)
 gnomAD v4
3g.69964986C>TCA353559602MITFc.1253C>T (p.Ala418Val)
c.1250C>T (p.Ala417Val)
n.1475C>T
c.1226C>T (p.Ala409Val)
c.*64C>T (n.*64C>T)
c.1319C>T (p.Ala440Val)
c.998C>T (p.Ala333Val)
c.1298C>T (p.Ala433Val)
c.1301C>T (p.Ala434Val)
c.980C>T (p.Ala327Val)
c.1145C>T (p.Ala382Val)
c.*645C>T (n.*645C>T)
c.812C>T (p.Ala271Val)
c.1271C>T (p.Ala424Val)
c.1163C>T (p.Ala388Val)
c.1316C>T (p.Ala439Val)
c.1268C>T (p.Ala423Val)
c.1151C>T (p.Ala384Val)
c.1133C>T (p.Ala378Val)
 dbSNP
3g.69964987A=CA1373414114MITFc.1254A= (p.Ala418=)
c.1251A= (p.Ala417=)
n.1476A=
c.1227A= (p.Ala409=)
c.*65A= (n.*65A=)
c.1320A= (p.Ala440=)
c.999A= (p.Ala333=)
c.1299A= (p.Ala433=)
c.1302A= (p.Ala434=)
c.981A= (p.Ala327=)
c.1146A= (p.Ala382=)
c.*646A= (n.*646A=)
c.813A= (p.Ala271=)
c.1272A= (p.Ala424=)
c.1164A= (p.Ala388=)
c.1317A= (p.Ala439=)
c.1269A= (p.Ala423=)
c.1152A= (p.Ala384=)
c.1134A= (p.Ala378=)
3g.69964987A>CCA434433680MITFc.1254A>C (p.Ala418=)
c.1251A>C (p.Ala417=)
n.1476A>C
c.1227A>C (p.Ala409=)
c.*65A>C (n.*65A>C)
c.1320A>C (p.Ala440=)
c.999A>C (p.Ala333=)
c.1299A>C (p.Ala433=)
c.1302A>C (p.Ala434=)
c.981A>C (p.Ala327=)
c.1146A>C (p.Ala382=)
c.*646A>C (n.*646A>C)
c.813A>C (p.Ala271=)
c.1272A>C (p.Ala424=)
c.1164A>C (p.Ala388=)
c.1317A>C (p.Ala439=)
c.1269A>C (p.Ala423=)
c.1152A>C (p.Ala384=)
c.1134A>C (p.Ala378=)
3g.69964987A>GCA434433679MITFc.1254A>G (p.Ala418=)
c.1251A>G (p.Ala417=)
n.1476A>G
c.1227A>G (p.Ala409=)
c.*65A>G (n.*65A>G)
c.1320A>G (p.Ala440=)
c.999A>G (p.Ala333=)
c.1299A>G (p.Ala433=)
c.1302A>G (p.Ala434=)
c.981A>G (p.Ala327=)
c.1146A>G (p.Ala382=)
c.*646A>G (n.*646A>G)
c.813A>G (p.Ala271=)
c.1272A>G (p.Ala424=)
c.1164A>G (p.Ala388=)
c.1317A>G (p.Ala439=)
c.1269A>G (p.Ala423=)
c.1152A>G (p.Ala384=)
c.1134A>G (p.Ala378=)
3g.69964987A>TCA10616570MITFc.1254A>T (p.Ala418=)
c.1251A>T (p.Ala417=)
n.1476A>T
c.1227A>T (p.Ala409=)
c.*65A>T (n.*65A>T)
c.1320A>T (p.Ala440=)
c.999A>T (p.Ala333=)
c.1299A>T (p.Ala433=)
c.1302A>T (p.Ala434=)
c.981A>T (p.Ala327=)
c.1146A>T (p.Ala382=)
c.*646A>T (n.*646A>T)
c.813A>T (p.Ala271=)
c.1272A>T (p.Ala424=)
c.1164A>T (p.Ala388=)
c.1317A>T (p.Ala439=)
c.1269A>T (p.Ala423=)
c.1152A>T (p.Ala384=)
c.1134A>T (p.Ala378=)
 ClinVar dbSNP
3g.69964988G>ACA353559603MITFc.1255G>A (p.Asp419Asn)
c.1252G>A (p.Asp418Asn)
n.1477G>A
c.1228G>A (p.Asp410Asn)
c.*66G>A (n.*66G>A)
c.1321G>A (p.Asp441Asn)
c.1000G>A (p.Asp334Asn)
c.1300G>A (p.Asp434Asn)
c.1303G>A (p.Asp435Asn)
c.982G>A (p.Asp328Asn)
c.1147G>A (p.Asp383Asn)
c.*647G>A (n.*647G>A)
c.814G>A (p.Asp272Asn)
c.1273G>A (p.Asp425Asn)
c.1165G>A (p.Asp389Asn)
c.1318G>A (p.Asp440Asn)
c.1270G>A (p.Asp424Asn)
c.1153G>A (p.Asp385Asn)
c.1135G>A (p.Asp379Asn)
 dbSNP gnomAD v4
3g.69964988G>CCA353559604MITFc.1255G>C (p.Asp419His)
c.1252G>C (p.Asp418His)
n.1477G>C
c.1228G>C (p.Asp410His)
c.*66G>C (n.*66G>C)
c.1321G>C (p.Asp441His)
c.1000G>C (p.Asp334His)
c.1300G>C (p.Asp434His)
c.1303G>C (p.Asp435His)
c.982G>C (p.Asp328His)
c.1147G>C (p.Asp383His)
c.*647G>C (n.*647G>C)
c.814G>C (p.Asp272His)
c.1273G>C (p.Asp425His)
c.1165G>C (p.Asp389His)
c.1318G>C (p.Asp440His)
c.1270G>C (p.Asp424His)
c.1153G>C (p.Asp385His)
c.1135G>C (p.Asp379His)
3g.69964988G=CA1373414117MITFc.1255G= (p.Asp419=)
c.1252G= (p.Asp418=)
n.1477G=
c.1228G= (p.Asp410=)
c.*66G= (n.*66G=)
c.1321G= (p.Asp441=)
c.1000G= (p.Asp334=)
c.1300G= (p.Asp434=)
c.1303G= (p.Asp435=)
c.982G= (p.Asp328=)
c.1147G= (p.Asp383=)
c.*647G= (n.*647G=)
c.814G= (p.Asp272=)
c.1273G= (p.Asp425=)
c.1165G= (p.Asp389=)
c.1318G= (p.Asp440=)
c.1270G= (p.Asp424=)
c.1153G= (p.Asp385=)
c.1135G= (p.Asp379=)
3g.69964988G>TCA353559605MITFc.1255G>T (p.Asp419Tyr)
c.1252G>T (p.Asp418Tyr)
n.1477G>T
c.1228G>T (p.Asp410Tyr)
c.*66G>T (n.*66G>T)
c.1321G>T (p.Asp441Tyr)
c.1000G>T (p.Asp334Tyr)
c.1300G>T (p.Asp434Tyr)
c.1303G>T (p.Asp435Tyr)
c.982G>T (p.Asp328Tyr)
c.1147G>T (p.Asp383Tyr)
c.*647G>T (n.*647G>T)
c.814G>T (p.Asp272Tyr)
c.1273G>T (p.Asp425Tyr)
c.1165G>T (p.Asp389Tyr)
c.1318G>T (p.Asp440Tyr)
c.1270G>T (p.Asp424Tyr)
c.1153G>T (p.Asp385Tyr)
c.1135G>T (p.Asp379Tyr)
3g.69964989A>CCA353559606MITFc.1256A>C (p.Asp419Ala)
c.1253A>C (p.Asp418Ala)
n.1478A>C
c.1229A>C (p.Asp410Ala)
c.*67A>C (n.*67A>C)
c.1322A>C (p.Asp441Ala)
c.1001A>C (p.Asp334Ala)
c.1301A>C (p.Asp434Ala)
c.1304A>C (p.Asp435Ala)
c.983A>C (p.Asp328Ala)
c.1148A>C (p.Asp383Ala)
c.*648A>C (n.*648A>C)
c.815A>C (p.Asp272Ala)
c.1274A>C (p.Asp425Ala)
c.1166A>C (p.Asp389Ala)
c.1319A>C (p.Asp440Ala)
c.1271A>C (p.Asp424Ala)
c.1154A>C (p.Asp385Ala)
c.1136A>C (p.Asp379Ala)
 gnomAD v4
3g.69964989A>GCA353559607MITFc.1256A>G (p.Asp419Gly)
c.1253A>G (p.Asp418Gly)
n.1478A>G
c.1229A>G (p.Asp410Gly)
c.*67A>G (n.*67A>G)
c.1322A>G (p.Asp441Gly)
c.1001A>G (p.Asp334Gly)
c.1301A>G (p.Asp434Gly)
c.1304A>G (p.Asp435Gly)
c.983A>G (p.Asp328Gly)
c.1148A>G (p.Asp383Gly)
c.*648A>G (n.*648A>G)
c.815A>G (p.Asp272Gly)
c.1274A>G (p.Asp425Gly)
c.1166A>G (p.Asp389Gly)
c.1319A>G (p.Asp440Gly)
c.1271A>G (p.Asp424Gly)
c.1154A>G (p.Asp385Gly)
c.1136A>G (p.Asp379Gly)
3g.69964989A>TCA353559608MITFc.1256A>T (p.Asp419Val)
c.1253A>T (p.Asp418Val)
n.1478A>T
c.1229A>T (p.Asp410Val)
c.*67A>T (n.*67A>T)
c.1322A>T (p.Asp441Val)
c.1001A>T (p.Asp334Val)
c.1301A>T (p.Asp434Val)
c.1304A>T (p.Asp435Val)
c.983A>T (p.Asp328Val)
c.1148A>T (p.Asp383Val)
c.*648A>T (n.*648A>T)
c.815A>T (p.Asp272Val)
c.1274A>T (p.Asp425Val)
c.1166A>T (p.Asp389Val)
c.1319A>T (p.Asp440Val)
c.1271A>T (p.Asp424Val)
c.1154A>T (p.Asp385Val)
c.1136A>T (p.Asp379Val)
 dbSNP
3g.69964990C>ACA353559609MITFc.1257C>A (p.Asp419Glu)
c.1254C>A (p.Asp418Glu)
n.1479C>A
c.1230C>A (p.Asp410Glu)
c.*68C>A (n.*68C>A)
c.1323C>A (p.Asp441Glu)
c.1002C>A (p.Asp334Glu)
c.1302C>A (p.Asp434Glu)
c.1305C>A (p.Asp435Glu)
c.984C>A (p.Asp328Glu)
c.1149C>A (p.Asp383Glu)
c.*649C>A (n.*649C>A)
c.816C>A (p.Asp272Glu)
c.1275C>A (p.Asp425Glu)
c.1167C>A (p.Asp389Glu)
c.1320C>A (p.Asp440Glu)
c.1272C>A (p.Asp424Glu)
c.1155C>A (p.Asp385Glu)
c.1137C>A (p.Asp379Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.69964990C=CA1373414120MITFc.1257C= (p.Asp419=)
c.1254C= (p.Asp418=)
n.1479C=
c.1230C= (p.Asp410=)
c.*68C= (n.*68C=)
c.1323C= (p.Asp441=)
c.1002C= (p.Asp334=)
c.1302C= (p.Asp434=)
c.1305C= (p.Asp435=)
c.984C= (p.Asp328=)
c.1149C= (p.Asp383=)
c.*649C= (n.*649C=)
c.816C= (p.Asp272=)
c.1275C= (p.Asp425=)
c.1167C= (p.Asp389=)
c.1320C= (p.Asp440=)
c.1272C= (p.Asp424=)
c.1155C= (p.Asp385=)
c.1137C= (p.Asp379=)
3g.69964990C>GCA353559610MITFc.1257C>G (p.Asp419Glu)
c.1254C>G (p.Asp418Glu)
n.1479C>G
c.1230C>G (p.Asp410Glu)
c.*68C>G (n.*68C>G)
c.1323C>G (p.Asp441Glu)
c.1002C>G (p.Asp334Glu)
c.1302C>G (p.Asp434Glu)
c.1305C>G (p.Asp435Glu)
c.984C>G (p.Asp328Glu)
c.1149C>G (p.Asp383Glu)
c.*649C>G (n.*649C>G)
c.816C>G (p.Asp272Glu)
c.1275C>G (p.Asp425Glu)
c.1167C>G (p.Asp389Glu)
c.1320C>G (p.Asp440Glu)
c.1272C>G (p.Asp424Glu)
c.1155C>G (p.Asp385Glu)
c.1137C>G (p.Asp379Glu)
 dbSNP
3g.69964990C>TCA434433681MITFc.1257C>T (p.Asp419=)
c.1254C>T (p.Asp418=)
n.1479C>T
c.1230C>T (p.Asp410=)
c.*68C>T (n.*68C>T)
c.1323C>T (p.Asp441=)
c.1002C>T (p.Asp334=)
c.1302C>T (p.Asp434=)
c.1305C>T (p.Asp435=)
c.984C>T (p.Asp328=)
c.1149C>T (p.Asp383=)
c.*649C>T (n.*649C>T)
c.816C>T (p.Asp272=)
c.1275C>T (p.Asp425=)
c.1167C>T (p.Asp389=)
c.1320C>T (p.Asp440=)
c.1272C>T (p.Asp424=)
c.1155C>T (p.Asp385=)
c.1137C>T (p.Asp379=)
3g.69964991C>ACA353559612MITFc.1258C>A (p.Leu420Ile)
c.1255C>A (p.Leu419Ile)
n.1480C>A
c.1231C>A (p.Leu411Ile)
c.*69C>A (n.*69C>A)
c.1324C>A (p.Leu442Ile)
c.1003C>A (p.Leu335Ile)
c.1303C>A (p.Leu435Ile)
c.1306C>A (p.Leu436Ile)
c.985C>A (p.Leu329Ile)
c.1150C>A (p.Leu384Ile)
c.*650C>A (n.*650C>A)
c.817C>A (p.Leu273Ile)
c.1276C>A (p.Leu426Ile)
c.1168C>A (p.Leu390Ile)
c.1321C>A (p.Leu441Ile)
c.1273C>A (p.Leu425Ile)
c.1156C>A (p.Leu386Ile)
c.1138C>A (p.Leu380Ile)
 dbSNP
3g.69964991C>GCA353559611MITFc.1258C>G (p.Leu420Val)
c.1255C>G (p.Leu419Val)
n.1480C>G
c.1231C>G (p.Leu411Val)
c.*69C>G (n.*69C>G)
c.1324C>G (p.Leu442Val)
c.1003C>G (p.Leu335Val)
c.1303C>G (p.Leu435Val)
c.1306C>G (p.Leu436Val)
c.985C>G (p.Leu329Val)
c.1150C>G (p.Leu384Val)
c.*650C>G (n.*650C>G)
c.817C>G (p.Leu273Val)
c.1276C>G (p.Leu426Val)
c.1168C>G (p.Leu390Val)
c.1321C>G (p.Leu441Val)
c.1273C>G (p.Leu425Val)
c.1156C>G (p.Leu386Val)
c.1138C>G (p.Leu380Val)
3g.69964991C>TCA434433685MITFc.1258C>T (p.Leu420=)
c.1255C>T (p.Leu419=)
n.1480C>T
c.1231C>T (p.Leu411=)
c.*69C>T (n.*69C>T)
c.1324C>T (p.Leu442=)
c.1003C>T (p.Leu335=)
c.1303C>T (p.Leu435=)
c.1306C>T (p.Leu436=)
c.985C>T (p.Leu329=)
c.1150C>T (p.Leu384=)
c.*650C>T (n.*650C>T)
c.817C>T (p.Leu273=)
c.1276C>T (p.Leu426=)
c.1168C>T (p.Leu390=)
c.1321C>T (p.Leu441=)
c.1273C>T (p.Leu425=)
c.1156C>T (p.Leu386=)
c.1138C>T (p.Leu380=)
3g.69964992T>ACA353559613MITFc.1259T>A (p.Leu420Gln)
c.1256T>A (p.Leu419Gln)
n.1481T>A
c.1232T>A (p.Leu411Gln)
c.*70T>A (n.*70T>A)
c.1325T>A (p.Leu442Gln)
c.1004T>A (p.Leu335Gln)
c.1304T>A (p.Leu435Gln)
c.1307T>A (p.Leu436Gln)
c.986T>A (p.Leu329Gln)
c.1151T>A (p.Leu384Gln)
c.*651T>A (n.*651T>A)
c.818T>A (p.Leu273Gln)
c.1277T>A (p.Leu426Gln)
c.1169T>A (p.Leu390Gln)
c.1322T>A (p.Leu441Gln)
c.1274T>A (p.Leu425Gln)
c.1157T>A (p.Leu386Gln)
c.1139T>A (p.Leu380Gln)
3g.69964992T>CCA353559614MITFc.1259T>C (p.Leu420Pro)
c.1256T>C (p.Leu419Pro)
n.1481T>C
c.1232T>C (p.Leu411Pro)
c.*70T>C (n.*70T>C)
c.1325T>C (p.Leu442Pro)
c.1004T>C (p.Leu335Pro)
c.1304T>C (p.Leu435Pro)
c.1307T>C (p.Leu436Pro)
c.986T>C (p.Leu329Pro)
c.1151T>C (p.Leu384Pro)
c.*651T>C (n.*651T>C)
c.818T>C (p.Leu273Pro)
c.1277T>C (p.Leu426Pro)
c.1169T>C (p.Leu390Pro)
c.1322T>C (p.Leu441Pro)
c.1274T>C (p.Leu425Pro)
c.1157T>C (p.Leu386Pro)
c.1139T>C (p.Leu380Pro)
3g.69964992T>GCA353559615MITFc.1259T>G (p.Leu420Arg)
c.1256T>G (p.Leu419Arg)
n.1481T>G
c.1232T>G (p.Leu411Arg)
c.*70T>G (n.*70T>G)
c.1325T>G (p.Leu442Arg)
c.1004T>G (p.Leu335Arg)
c.1304T>G (p.Leu435Arg)
c.1307T>G (p.Leu436Arg)
c.986T>G (p.Leu329Arg)
c.1151T>G (p.Leu384Arg)
c.*651T>G (n.*651T>G)
c.818T>G (p.Leu273Arg)
c.1277T>G (p.Leu426Arg)
c.1169T>G (p.Leu390Arg)
c.1322T>G (p.Leu441Arg)
c.1274T>G (p.Leu425Arg)
c.1157T>G (p.Leu386Arg)
c.1139T>G (p.Leu380Arg)
3g.69964993A>CCA434433688MITFc.1260A>C (p.Leu420=)
c.1257A>C (p.Leu419=)
n.1482A>C
c.1233A>C (p.Leu411=)
c.*71A>C (n.*71A>C)
c.1326A>C (p.Leu442=)
c.1005A>C (p.Leu335=)
c.1305A>C (p.Leu435=)
c.1308A>C (p.Leu436=)
c.987A>C (p.Leu329=)
c.1152A>C (p.Leu384=)
c.*652A>C (n.*652A>C)
c.819A>C (p.Leu273=)
c.1278A>C (p.Leu426=)
c.1170A>C (p.Leu390=)
c.1323A>C (p.Leu441=)
c.1275A>C (p.Leu425=)
c.1158A>C (p.Leu386=)
c.1140A>C (p.Leu380=)
3g.69964993A>GCA434433690MITFc.1260A>G (p.Leu420=)
c.1257A>G (p.Leu419=)
n.1482A>G
c.1233A>G (p.Leu411=)
c.*71A>G (n.*71A>G)
c.1326A>G (p.Leu442=)
c.1005A>G (p.Leu335=)
c.1305A>G (p.Leu435=)
c.1308A>G (p.Leu436=)
c.987A>G (p.Leu329=)
c.1152A>G (p.Leu384=)
c.*652A>G (n.*652A>G)
c.819A>G (p.Leu273=)
c.1278A>G (p.Leu426=)
c.1170A>G (p.Leu390=)
c.1323A>G (p.Leu441=)
c.1275A>G (p.Leu425=)
c.1158A>G (p.Leu386=)
c.1140A>G (p.Leu380=)
3g.69964993A>TCA434433689MITFc.1260A>T (p.Leu420=)
c.1257A>T (p.Leu419=)
n.1482A>T
c.1233A>T (p.Leu411=)
c.*71A>T (n.*71A>T)
c.1326A>T (p.Leu442=)
c.1005A>T (p.Leu335=)
c.1305A>T (p.Leu435=)
c.1308A>T (p.Leu436=)
c.987A>T (p.Leu329=)
c.1152A>T (p.Leu384=)
c.*652A>T (n.*652A>T)
c.819A>T (p.Leu273=)
c.1278A>T (p.Leu426=)
c.1170A>T (p.Leu390=)
c.1323A>T (p.Leu441=)
c.1275A>T (p.Leu425=)
c.1158A>T (p.Leu386=)
c.1140A>T (p.Leu380=)
3g.69964994A>CCA353559616MITFc.1261A>C (p.Thr421Pro)
c.1258A>C (p.Thr420Pro)
n.1483A>C
c.1234A>C (p.Thr412Pro)
c.*72A>C (n.*72A>C)
c.1327A>C (p.Thr443Pro)
c.1006A>C (p.Thr336Pro)
c.1306A>C (p.Thr436Pro)
c.1309A>C (p.Thr437Pro)
c.988A>C (p.Thr330Pro)
c.1153A>C (p.Thr385Pro)
c.*653A>C (n.*653A>C)
c.820A>C (p.Thr274Pro)
c.1279A>C (p.Thr427Pro)
c.1171A>C (p.Thr391Pro)
c.1324A>C (p.Thr442Pro)
c.1276A>C (p.Thr426Pro)
c.1159A>C (p.Thr387Pro)
c.1141A>C (p.Thr381Pro)
3g.69964994A>GCA353559617MITFc.1261A>G (p.Thr421Ala)
c.1258A>G (p.Thr420Ala)
n.1483A>G
c.1234A>G (p.Thr412Ala)
c.*72A>G (n.*72A>G)
c.1327A>G (p.Thr443Ala)
c.1006A>G (p.Thr336Ala)
c.1306A>G (p.Thr436Ala)
c.1309A>G (p.Thr437Ala)
c.988A>G (p.Thr330Ala)
c.1153A>G (p.Thr385Ala)
c.*653A>G (n.*653A>G)
c.820A>G (p.Thr274Ala)
c.1279A>G (p.Thr427Ala)
c.1171A>G (p.Thr391Ala)
c.1324A>G (p.Thr442Ala)
c.1276A>G (p.Thr426Ala)
c.1159A>G (p.Thr387Ala)
c.1141A>G (p.Thr381Ala)
3g.69964994A>TCA353559618MITFc.1261A>T (p.Thr421Ser)
c.1258A>T (p.Thr420Ser)
n.1483A>T
c.1234A>T (p.Thr412Ser)
c.*72A>T (n.*72A>T)
c.1327A>T (p.Thr443Ser)
c.1006A>T (p.Thr336Ser)
c.1306A>T (p.Thr436Ser)
c.1309A>T (p.Thr437Ser)
c.988A>T (p.Thr330Ser)
c.1153A>T (p.Thr385Ser)
c.*653A>T (n.*653A>T)
c.820A>T (p.Thr274Ser)
c.1279A>T (p.Thr427Ser)
c.1171A>T (p.Thr391Ser)
c.1324A>T (p.Thr442Ser)
c.1276A>T (p.Thr426Ser)
c.1159A>T (p.Thr387Ser)
c.1141A>T (p.Thr381Ser)
3g.69964995C>ACA353559619MITFc.1262C>A (p.Thr421Asn)
c.1259C>A (p.Thr420Asn)
n.1484C>A
c.1235C>A (p.Thr412Asn)
c.*73C>A (n.*73C>A)
c.1328C>A (p.Thr443Asn)
c.1007C>A (p.Thr336Asn)
c.1307C>A (p.Thr436Asn)
c.1310C>A (p.Thr437Asn)
c.989C>A (p.Thr330Asn)
c.1154C>A (p.Thr385Asn)
c.*654C>A (n.*654C>A)
c.821C>A (p.Thr274Asn)
c.1280C>A (p.Thr427Asn)
c.1172C>A (p.Thr391Asn)
c.1325C>A (p.Thr442Asn)
c.1277C>A (p.Thr426Asn)
c.1160C>A (p.Thr387Asn)
c.1142C>A (p.Thr381Asn)
3g.69964995C=CA1373414122MITFc.1262C= (p.Thr421=)
c.1259C= (p.Thr420=)
n.1484C=
c.1235C= (p.Thr412=)
c.*73C= (n.*73C=)
c.1328C= (p.Thr443=)
c.1007C= (p.Thr336=)
c.1307C= (p.Thr436=)
c.1310C= (p.Thr437=)
c.989C= (p.Thr330=)
c.1154C= (p.Thr385=)
c.*654C= (n.*654C=)
c.821C= (p.Thr274=)
c.1280C= (p.Thr427=)
c.1172C= (p.Thr391=)
c.1325C= (p.Thr442=)
c.1277C= (p.Thr426=)
c.1160C= (p.Thr387=)
c.1142C= (p.Thr381=)
3g.69964995C>GCA353559620MITFc.1262C>G (p.Thr421Ser)
c.1259C>G (p.Thr420Ser)
n.1484C>G
c.1235C>G (p.Thr412Ser)
c.*73C>G (n.*73C>G)
c.1328C>G (p.Thr443Ser)
c.1007C>G (p.Thr336Ser)
c.1307C>G (p.Thr436Ser)
c.1310C>G (p.Thr437Ser)
c.989C>G (p.Thr330Ser)
c.1154C>G (p.Thr385Ser)
c.*654C>G (n.*654C>G)
c.821C>G (p.Thr274Ser)
c.1280C>G (p.Thr427Ser)
c.1172C>G (p.Thr391Ser)
c.1325C>G (p.Thr442Ser)
c.1277C>G (p.Thr426Ser)
c.1160C>G (p.Thr387Ser)
c.1142C>G (p.Thr381Ser)
 gnomAD v4
3g.69964995C>TCA353559621MITFc.1262C>T (p.Thr421Ile)
c.1259C>T (p.Thr420Ile)
n.1484C>T
c.1235C>T (p.Thr412Ile)
c.*73C>T (n.*73C>T)
c.1328C>T (p.Thr443Ile)
c.1007C>T (p.Thr336Ile)
c.1307C>T (p.Thr436Ile)
c.1310C>T (p.Thr437Ile)
c.989C>T (p.Thr330Ile)
c.1154C>T (p.Thr385Ile)
c.*654C>T (n.*654C>T)
c.821C>T (p.Thr274Ile)
c.1280C>T (p.Thr427Ile)
c.1172C>T (p.Thr391Ile)
c.1325C>T (p.Thr442Ile)
c.1277C>T (p.Thr426Ile)
c.1160C>T (p.Thr387Ile)
c.1142C>T (p.Thr381Ile)
3g.69964996C>ACA434433692MITFc.1263C>A (p.Thr421=)
c.1260C>A (p.Thr420=)
n.1485C>A
c.1236C>A (p.Thr412=)
c.*74C>A (n.*74C>A)
c.1329C>A (p.Thr443=)
c.1008C>A (p.Thr336=)
c.1308C>A (p.Thr436=)
c.1311C>A (p.Thr437=)
c.990C>A (p.Thr330=)
c.1155C>A (p.Thr385=)
c.*655C>A (n.*655C>A)
c.822C>A (p.Thr274=)
c.1281C>A (p.Thr427=)
c.1173C>A (p.Thr391=)
c.1326C>A (p.Thr442=)
c.1278C>A (p.Thr426=)
c.1161C>A (p.Thr387=)
c.1143C>A (p.Thr381=)
 dbSNP gnomAD v3 gnomAD v4
3g.69964996C>GCA434433695MITFc.1263C>G (p.Thr421=)
c.1260C>G (p.Thr420=)
n.1485C>G
c.1236C>G (p.Thr412=)
c.*74C>G (n.*74C>G)
c.1329C>G (p.Thr443=)
c.1008C>G (p.Thr336=)
c.1308C>G (p.Thr436=)
c.1311C>G (p.Thr437=)
c.990C>G (p.Thr330=)
c.1155C>G (p.Thr385=)
c.*655C>G (n.*655C>G)
c.822C>G (p.Thr274=)
c.1281C>G (p.Thr427=)
c.1173C>G (p.Thr391=)
c.1326C>G (p.Thr442=)
c.1278C>G (p.Thr426=)
c.1161C>G (p.Thr387=)
c.1143C>G (p.Thr381=)
3g.69964996C>TCA434433697MITFc.1263C>T (p.Thr421=)
c.1260C>T (p.Thr420=)
n.1485C>T
c.1236C>T (p.Thr412=)
c.*74C>T (n.*74C>T)
c.1329C>T (p.Thr443=)
c.1008C>T (p.Thr336=)
c.1308C>T (p.Thr436=)
c.1311C>T (p.Thr437=)
c.990C>T (p.Thr330=)
c.1155C>T (p.Thr385=)
c.*655C>T (n.*655C>T)
c.822C>T (p.Thr274=)
c.1281C>T (p.Thr427=)
c.1173C>T (p.Thr391=)
c.1326C>T (p.Thr442=)
c.1278C>T (p.Thr426=)
c.1161C>T (p.Thr387=)
c.1143C>T (p.Thr381=)
 dbSNP gnomAD v4
3g.69964998_69965010dupCA1139658160MITFc.1265_1277dup (p.Asp427TyrfsTer22)
c.1262_1274dup (p.Asp426TyrfsTer22)
n.1487_1499dup
c.1238_1250dup (p.Asp418TyrfsTer22)
c.*76_*88dup (n.*76_*88dup)
c.1331_1343dup (p.Asp449TyrfsTer22)
c.1010_1022dup (p.Asp342TyrfsTer22)
c.1310_1322dup (p.Asp442TyrfsTer22)
c.1313_1325dup (p.Asp443TyrfsTer22)
c.992_1004dup (p.Asp336TyrfsTer22)
c.1157_1169dup (p.Asp391TyrfsTer22)
c.*657_*669dup (n.*657_*669dup)
c.824_836dup (p.Asp280TyrfsTer22)
c.1283_1295dup (p.Asp433TyrfsTer22)
c.1175_1187dup (p.Asp397TyrfsTer22)
c.1328_1340dup (p.Asp448TyrfsTer22)
c.1280_1292dup (p.Asp432TyrfsTer22)
c.1163_1175dup (p.Asp393TyrfsTer22)
c.1145_1157dup (p.Asp387TyrfsTer22)
 ClinVar dbSNP
3g.69964997T>ACA353559622MITFc.1264T>A (p.Cys422Ser)
c.1261T>A (p.Cys421Ser)
n.1486T>A
c.1237T>A (p.Cys413Ser)
c.*75T>A (n.*75T>A)
c.1330T>A (p.Cys444Ser)
c.1009T>A (p.Cys337Ser)
c.1309T>A (p.Cys437Ser)
c.1312T>A (p.Cys438Ser)
c.991T>A (p.Cys331Ser)
c.1156T>A (p.Cys386Ser)
c.*656T>A (n.*656T>A)
c.823T>A (p.Cys275Ser)
c.1282T>A (p.Cys428Ser)
c.1174T>A (p.Cys392Ser)
c.1327T>A (p.Cys443Ser)
c.1279T>A (p.Cys427Ser)
c.1162T>A (p.Cys388Ser)
c.1144T>A (p.Cys382Ser)
3g.69964997T>CCA2490641MITFc.1264T>C (p.Cys422Arg)
c.1261T>C (p.Cys421Arg)
n.1486T>C
c.1237T>C (p.Cys413Arg)
c.*75T>C (n.*75T>C)
c.1330T>C (p.Cys444Arg)
c.1009T>C (p.Cys337Arg)
c.1309T>C (p.Cys437Arg)
c.1312T>C (p.Cys438Arg)
c.991T>C (p.Cys331Arg)
c.1156T>C (p.Cys386Arg)
c.*656T>C (n.*656T>C)
c.823T>C (p.Cys275Arg)
c.1282T>C (p.Cys428Arg)
c.1174T>C (p.Cys392Arg)
c.1327T>C (p.Cys443Arg)
c.1279T>C (p.Cys427Arg)
c.1162T>C (p.Cys388Arg)
c.1144T>C (p.Cys382Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69964997T>GCA353559623MITFc.1264T>G (p.Cys422Gly)
c.1261T>G (p.Cys421Gly)
n.1486T>G
c.1237T>G (p.Cys413Gly)
c.*75T>G (n.*75T>G)
c.1330T>G (p.Cys444Gly)
c.1009T>G (p.Cys337Gly)
c.1309T>G (p.Cys437Gly)
c.1312T>G (p.Cys438Gly)
c.991T>G (p.Cys331Gly)
c.1156T>G (p.Cys386Gly)
c.*656T>G (n.*656T>G)
c.823T>G (p.Cys275Gly)
c.1282T>G (p.Cys428Gly)
c.1174T>G (p.Cys392Gly)
c.1327T>G (p.Cys443Gly)
c.1279T>G (p.Cys427Gly)
c.1162T>G (p.Cys388Gly)
c.1144T>G (p.Cys382Gly)
 ClinVar dbSNP
3g.69964997T=CA1373414128MITFc.1264T= (p.Cys422=)
c.1261T= (p.Cys421=)
n.1486T=
c.1237T= (p.Cys413=)
c.*75T= (n.*75T=)
c.1330T= (p.Cys444=)
c.1009T= (p.Cys337=)
c.1309T= (p.Cys437=)
c.1312T= (p.Cys438=)
c.991T= (p.Cys331=)
c.1156T= (p.Cys386=)
c.*656T= (n.*656T=)
c.823T= (p.Cys275=)
c.1282T= (p.Cys428=)
c.1174T= (p.Cys392=)
c.1327T= (p.Cys443=)
c.1279T= (p.Cys427=)
c.1162T= (p.Cys388=)
c.1144T= (p.Cys382=)
3g.69964998G>ACA353559624MITFc.1265G>A (p.Cys422Tyr)
c.1262G>A (p.Cys421Tyr)
n.1487G>A
c.1238G>A (p.Cys413Tyr)
c.*76G>A (n.*76G>A)
c.1331G>A (p.Cys444Tyr)
c.1010G>A (p.Cys337Tyr)
c.1310G>A (p.Cys437Tyr)
c.1313G>A (p.Cys438Tyr)
c.992G>A (p.Cys331Tyr)
c.1157G>A (p.Cys386Tyr)
c.*657G>A (n.*657G>A)
c.824G>A (p.Cys275Tyr)
c.1283G>A (p.Cys428Tyr)
c.1175G>A (p.Cys392Tyr)
c.1328G>A (p.Cys443Tyr)
c.1280G>A (p.Cys427Tyr)
c.1163G>A (p.Cys388Tyr)
c.1145G>A (p.Cys382Tyr)
 dbSNP
3g.69964998G>CCA353559625MITFc.1265G>C (p.Cys422Ser)
c.1262G>C (p.Cys421Ser)
n.1487G>C
c.1238G>C (p.Cys413Ser)
c.*76G>C (n.*76G>C)
c.1331G>C (p.Cys444Ser)
c.1010G>C (p.Cys337Ser)
c.1310G>C (p.Cys437Ser)
c.1313G>C (p.Cys438Ser)
c.992G>C (p.Cys331Ser)
c.1157G>C (p.Cys386Ser)
c.*657G>C (n.*657G>C)
c.824G>C (p.Cys275Ser)
c.1283G>C (p.Cys428Ser)
c.1175G>C (p.Cys392Ser)
c.1328G>C (p.Cys443Ser)
c.1280G>C (p.Cys427Ser)
c.1163G>C (p.Cys388Ser)
c.1145G>C (p.Cys382Ser)
3g.69964998G=CA1373414133MITFc.1265G= (p.Cys422=)
c.1262G= (p.Cys421=)
n.1487G=
c.1238G= (p.Cys413=)
c.*76G= (n.*76G=)
c.1331G= (p.Cys444=)
c.1010G= (p.Cys337=)
c.1310G= (p.Cys437=)
c.1313G= (p.Cys438=)
c.992G= (p.Cys331=)
c.1157G= (p.Cys386=)
c.*657G= (n.*657G=)
c.824G= (p.Cys275=)
c.1283G= (p.Cys428=)
c.1175G= (p.Cys392=)
c.1328G= (p.Cys443=)
c.1280G= (p.Cys427=)
c.1163G= (p.Cys388=)
c.1145G= (p.Cys382=)
3g.69964998G>TCA77003522MITFc.1265G>T (p.Cys422Phe)
c.1262G>T (p.Cys421Phe)
n.1487G>T
c.1238G>T (p.Cys413Phe)
c.*76G>T (n.*76G>T)
c.1331G>T (p.Cys444Phe)
c.1010G>T (p.Cys337Phe)
c.1310G>T (p.Cys437Phe)
c.1313G>T (p.Cys438Phe)
c.992G>T (p.Cys331Phe)
c.1157G>T (p.Cys386Phe)
c.*657G>T (n.*657G>T)
c.824G>T (p.Cys275Phe)
c.1283G>T (p.Cys428Phe)
c.1175G>T (p.Cys392Phe)
c.1328G>T (p.Cys443Phe)
c.1280G>T (p.Cys427Phe)
c.1163G>T (p.Cys388Phe)
c.1145G>T (p.Cys382Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.69964999T>ACA353559626MITFc.1266T>A (p.Cys422Ter)
c.1263T>A (p.Cys421Ter)
n.1488T>A
c.1239T>A (p.Cys413Ter)
c.*77T>A (n.*77T>A)
c.1332T>A (p.Cys444Ter)
c.1011T>A (p.Cys337Ter)
c.1311T>A (p.Cys437Ter)
c.1314T>A (p.Cys438Ter)
c.993T>A (p.Cys331Ter)
c.1158T>A (p.Cys386Ter)
c.*658T>A (n.*658T>A)
c.825T>A (p.Cys275Ter)
c.1284T>A (p.Cys428Ter)
c.1176T>A (p.Cys392Ter)
c.1329T>A (p.Cys443Ter)
c.1281T>A (p.Cys427Ter)
c.1164T>A (p.Cys388Ter)
c.1146T>A (p.Cys382Ter)
3g.69964999T>CCA434433698MITFc.1266T>C (p.Cys422=)
c.1263T>C (p.Cys421=)
n.1488T>C
c.1239T>C (p.Cys413=)
c.*77T>C (n.*77T>C)
c.1332T>C (p.Cys444=)
c.1011T>C (p.Cys337=)
c.1311T>C (p.Cys437=)
c.1314T>C (p.Cys438=)
c.993T>C (p.Cys331=)
c.1158T>C (p.Cys386=)
c.*658T>C (n.*658T>C)
c.825T>C (p.Cys275=)
c.1284T>C (p.Cys428=)
c.1176T>C (p.Cys392=)
c.1329T>C (p.Cys443=)
c.1281T>C (p.Cys427=)
c.1164T>C (p.Cys388=)
c.1146T>C (p.Cys382=)
3g.69964999T>GCA353559627MITFc.1266T>G (p.Cys422Trp)
c.1263T>G (p.Cys421Trp)
n.1488T>G
c.1239T>G (p.Cys413Trp)
c.*77T>G (n.*77T>G)
c.1332T>G (p.Cys444Trp)
c.1011T>G (p.Cys337Trp)
c.1311T>G (p.Cys437Trp)
c.1314T>G (p.Cys438Trp)
c.993T>G (p.Cys331Trp)
c.1158T>G (p.Cys386Trp)
c.*658T>G (n.*658T>G)
c.825T>G (p.Cys275Trp)
c.1284T>G (p.Cys428Trp)
c.1176T>G (p.Cys392Trp)
c.1329T>G (p.Cys443Trp)
c.1281T>G (p.Cys427Trp)
c.1164T>G (p.Cys388Trp)
c.1146T>G (p.Cys382Trp)
3g.69965000A>CCA353559628MITFc.1267A>C (p.Thr423Pro)
c.1264A>C (p.Thr422Pro)
n.1489A>C
c.1240A>C (p.Thr414Pro)
c.*78A>C (n.*78A>C)
c.1333A>C (p.Thr445Pro)
c.1012A>C (p.Thr338Pro)
c.1312A>C (p.Thr438Pro)
c.1315A>C (p.Thr439Pro)
c.994A>C (p.Thr332Pro)
c.1159A>C (p.Thr387Pro)
c.*659A>C (n.*659A>C)
c.826A>C (p.Thr276Pro)
c.1285A>C (p.Thr429Pro)
c.1177A>C (p.Thr393Pro)
c.1330A>C (p.Thr444Pro)
c.1282A>C (p.Thr428Pro)
c.1165A>C (p.Thr389Pro)
c.1147A>C (p.Thr383Pro)
3g.69965000A>GCA353559629MITFc.1267A>G (p.Thr423Ala)
c.1264A>G (p.Thr422Ala)
n.1489A>G
c.1240A>G (p.Thr414Ala)
c.*78A>G (n.*78A>G)
c.1333A>G (p.Thr445Ala)
c.1012A>G (p.Thr338Ala)
c.1312A>G (p.Thr438Ala)
c.1315A>G (p.Thr439Ala)
c.994A>G (p.Thr332Ala)
c.1159A>G (p.Thr387Ala)
c.*659A>G (n.*659A>G)
c.826A>G (p.Thr276Ala)
c.1285A>G (p.Thr429Ala)
c.1177A>G (p.Thr393Ala)
c.1330A>G (p.Thr444Ala)
c.1282A>G (p.Thr428Ala)
c.1165A>G (p.Thr389Ala)
c.1147A>G (p.Thr383Ala)
 gnomAD v4
3g.69965000A>TCA353559630MITFc.1267A>T (p.Thr423Ser)
c.1264A>T (p.Thr422Ser)
n.1489A>T
c.1240A>T (p.Thr414Ser)
c.*78A>T (n.*78A>T)
c.1333A>T (p.Thr445Ser)
c.1012A>T (p.Thr338Ser)
c.1312A>T (p.Thr438Ser)
c.1315A>T (p.Thr439Ser)
c.994A>T (p.Thr332Ser)
c.1159A>T (p.Thr387Ser)
c.*659A>T (n.*659A>T)
c.826A>T (p.Thr276Ser)
c.1285A>T (p.Thr429Ser)
c.1177A>T (p.Thr393Ser)
c.1330A>T (p.Thr444Ser)
c.1282A>T (p.Thr428Ser)
c.1165A>T (p.Thr389Ser)
c.1147A>T (p.Thr383Ser)
3g.69965005_69965007delCA2666480940MITFc.1272_1274del (p.Thr425del)
c.1269_1271del (p.Thr424del)
n.1494_1496del
c.1245_1247del (p.Thr416del)
c.*83_*85del (n.*83_*85del)
c.1338_1340del (p.Thr447del)
c.1017_1019del (p.Thr340del)
c.1317_1319del (p.Thr440del)
c.1320_1322del (p.Thr441del)
c.999_1001del (p.Thr334del)
c.1164_1166del (p.Thr389del)
c.*664_*666del (n.*664_*666del)
c.831_833del (p.Thr278del)
c.1290_1292del (p.Thr431del)
c.1182_1184del (p.Thr395del)
c.1335_1337del (p.Thr446del)
c.1287_1289del (p.Thr430del)
c.1170_1172del (p.Thr391del)
c.1152_1154del (p.Thr385del)
 gnomAD v4
3g.69965001C>ACA2490642MITFc.1268C>A (p.Thr423Lys)
c.1265C>A (p.Thr422Lys)
n.1490C>A
c.1241C>A (p.Thr414Lys)
c.*79C>A (n.*79C>A)
c.1334C>A (p.Thr445Lys)
c.1013C>A (p.Thr338Lys)
c.1313C>A (p.Thr438Lys)
c.1316C>A (p.Thr439Lys)
c.995C>A (p.Thr332Lys)
c.1160C>A (p.Thr387Lys)
c.*660C>A (n.*660C>A)
c.827C>A (p.Thr276Lys)
c.1286C>A (p.Thr429Lys)
c.1178C>A (p.Thr393Lys)
c.1331C>A (p.Thr444Lys)
c.1283C>A (p.Thr428Lys)
c.1166C>A (p.Thr389Lys)
c.1148C>A (p.Thr383Lys)
 dbSNP ExAC gnomAD v2
3g.69965001C=CA1373414139MITFc.1268C= (p.Thr423=)
c.1265C= (p.Thr422=)
n.1490C=
c.1241C= (p.Thr414=)
c.*79C= (n.*79C=)
c.1334C= (p.Thr445=)
c.1013C= (p.Thr338=)
c.1313C= (p.Thr438=)
c.1316C= (p.Thr439=)
c.995C= (p.Thr332=)
c.1160C= (p.Thr387=)
c.*660C= (n.*660C=)
c.827C= (p.Thr276=)
c.1286C= (p.Thr429=)
c.1178C= (p.Thr393=)
c.1331C= (p.Thr444=)
c.1283C= (p.Thr428=)
c.1166C= (p.Thr389=)
c.1148C= (p.Thr383=)
3g.69965001C>GCA353559631MITFc.1268C>G (p.Thr423Arg)
c.1265C>G (p.Thr422Arg)
n.1490C>G
c.1241C>G (p.Thr414Arg)
c.*79C>G (n.*79C>G)
c.1334C>G (p.Thr445Arg)
c.1013C>G (p.Thr338Arg)
c.1313C>G (p.Thr438Arg)
c.1316C>G (p.Thr439Arg)
c.995C>G (p.Thr332Arg)
c.1160C>G (p.Thr387Arg)
c.*660C>G (n.*660C>G)
c.827C>G (p.Thr276Arg)
c.1286C>G (p.Thr429Arg)
c.1178C>G (p.Thr393Arg)
c.1331C>G (p.Thr444Arg)
c.1283C>G (p.Thr428Arg)
c.1166C>G (p.Thr389Arg)
c.1148C>G (p.Thr383Arg)
 gnomAD v4
3g.69965001C>TCA353559632MITFc.1268C>T (p.Thr423Ile)
c.1265C>T (p.Thr422Ile)
n.1490C>T
c.1241C>T (p.Thr414Ile)
c.*79C>T (n.*79C>T)
c.1334C>T (p.Thr445Ile)
c.1013C>T (p.Thr338Ile)
c.1313C>T (p.Thr438Ile)
c.1316C>T (p.Thr439Ile)
c.995C>T (p.Thr332Ile)
c.1160C>T (p.Thr387Ile)
c.*660C>T (n.*660C>T)
c.827C>T (p.Thr276Ile)
c.1286C>T (p.Thr429Ile)
c.1178C>T (p.Thr393Ile)
c.1331C>T (p.Thr444Ile)
c.1283C>T (p.Thr428Ile)
c.1166C>T (p.Thr389Ile)
c.1148C>T (p.Thr383Ile)
3g.69965002A>CCA434433702MITFc.1269A>C (p.Thr423=)
c.1266A>C (p.Thr422=)
n.1491A>C
c.1242A>C (p.Thr414=)
c.*80A>C (n.*80A>C)
c.1335A>C (p.Thr445=)
c.1014A>C (p.Thr338=)
c.1314A>C (p.Thr438=)
c.1317A>C (p.Thr439=)
c.996A>C (p.Thr332=)
c.1161A>C (p.Thr387=)
c.*661A>C (n.*661A>C)
c.828A>C (p.Thr276=)
c.1287A>C (p.Thr429=)
c.1179A>C (p.Thr393=)
c.1332A>C (p.Thr444=)
c.1284A>C (p.Thr428=)
c.1167A>C (p.Thr389=)
c.1149A>C (p.Thr383=)
3g.69965002A>GCA434433701MITFc.1269A>G (p.Thr423=)
c.1266A>G (p.Thr422=)
n.1491A>G
c.1242A>G (p.Thr414=)
c.*80A>G (n.*80A>G)
c.1335A>G (p.Thr445=)
c.1014A>G (p.Thr338=)
c.1314A>G (p.Thr438=)
c.1317A>G (p.Thr439=)
c.996A>G (p.Thr332=)
c.1161A>G (p.Thr387=)
c.*661A>G (n.*661A>G)
c.828A>G (p.Thr276=)
c.1287A>G (p.Thr429=)
c.1179A>G (p.Thr393=)
c.1332A>G (p.Thr444=)
c.1284A>G (p.Thr428=)
c.1167A>G (p.Thr389=)
c.1149A>G (p.Thr383=)
3g.69965002A>TCA434433700MITFc.1269A>T (p.Thr423=)
c.1266A>T (p.Thr422=)
n.1491A>T
c.1242A>T (p.Thr414=)
c.*80A>T (n.*80A>T)
c.1335A>T (p.Thr445=)
c.1014A>T (p.Thr338=)
c.1314A>T (p.Thr438=)
c.1317A>T (p.Thr439=)
c.996A>T (p.Thr332=)
c.1161A>T (p.Thr387=)
c.*661A>T (n.*661A>T)
c.828A>T (p.Thr276=)
c.1287A>T (p.Thr429=)
c.1179A>T (p.Thr393=)
c.1332A>T (p.Thr444=)
c.1284A>T (p.Thr428=)
c.1167A>T (p.Thr389=)
c.1149A>T (p.Thr383=)
3g.69965003A>CCA353559633MITFc.1270A>C (p.Thr424Pro)
c.1267A>C (p.Thr423Pro)
n.1492A>C
c.1243A>C (p.Thr415Pro)
c.*81A>C (n.*81A>C)
c.1336A>C (p.Thr446Pro)
c.1015A>C (p.Thr339Pro)
c.1315A>C (p.Thr439Pro)
c.1318A>C (p.Thr440Pro)
c.997A>C (p.Thr333Pro)
c.1162A>C (p.Thr388Pro)
c.*662A>C (n.*662A>C)
c.829A>C (p.Thr277Pro)
c.1288A>C (p.Thr430Pro)
c.1180A>C (p.Thr394Pro)
c.1333A>C (p.Thr445Pro)
c.1285A>C (p.Thr429Pro)
c.1168A>C (p.Thr390Pro)
c.1150A>C (p.Thr384Pro)
3g.69965003A>GCA353559634MITFc.1270A>G (p.Thr424Ala)
c.1267A>G (p.Thr423Ala)
n.1492A>G
c.1243A>G (p.Thr415Ala)
c.*81A>G (n.*81A>G)
c.1336A>G (p.Thr446Ala)
c.1015A>G (p.Thr339Ala)
c.1315A>G (p.Thr439Ala)
c.1318A>G (p.Thr440Ala)
c.997A>G (p.Thr333Ala)
c.1162A>G (p.Thr388Ala)
c.*662A>G (n.*662A>G)
c.829A>G (p.Thr277Ala)
c.1288A>G (p.Thr430Ala)
c.1180A>G (p.Thr394Ala)
c.1333A>G (p.Thr445Ala)
c.1285A>G (p.Thr429Ala)
c.1168A>G (p.Thr390Ala)
c.1150A>G (p.Thr384Ala)
 ClinVar gnomAD v4
3g.69965003A>TCA353559635MITFc.1270A>T (p.Thr424Ser)
c.1267A>T (p.Thr423Ser)
n.1492A>T
c.1243A>T (p.Thr415Ser)
c.*81A>T (n.*81A>T)
c.1336A>T (p.Thr446Ser)
c.1015A>T (p.Thr339Ser)
c.1315A>T (p.Thr439Ser)
c.1318A>T (p.Thr440Ser)
c.997A>T (p.Thr333Ser)
c.1162A>T (p.Thr388Ser)
c.*662A>T (n.*662A>T)
c.829A>T (p.Thr277Ser)
c.1288A>T (p.Thr430Ser)
c.1180A>T (p.Thr394Ser)
c.1333A>T (p.Thr445Ser)
c.1285A>T (p.Thr429Ser)
c.1168A>T (p.Thr390Ser)
c.1150A>T (p.Thr384Ser)
3g.69965004C>ACA353559636MITFc.1271C>A (p.Thr424Lys)
c.1268C>A (p.Thr423Lys)
n.1493C>A
c.1244C>A (p.Thr415Lys)
c.*82C>A (n.*82C>A)
c.1337C>A (p.Thr446Lys)
c.1016C>A (p.Thr339Lys)
c.1316C>A (p.Thr439Lys)
c.1319C>A (p.Thr440Lys)
c.998C>A (p.Thr333Lys)
c.1163C>A (p.Thr388Lys)
c.*663C>A (n.*663C>A)
c.830C>A (p.Thr277Lys)
c.1289C>A (p.Thr430Lys)
c.1181C>A (p.Thr394Lys)
c.1334C>A (p.Thr445Lys)
c.1286C>A (p.Thr429Lys)
c.1169C>A (p.Thr390Lys)
c.1151C>A (p.Thr384Lys)
3g.69965004C=CA1373414143MITFc.1271C= (p.Thr424=)
c.1268C= (p.Thr423=)
n.1493C=
c.1244C= (p.Thr415=)
c.*82C= (n.*82C=)
c.1337C= (p.Thr446=)
c.1016C= (p.Thr339=)
c.1316C= (p.Thr439=)
c.1319C= (p.Thr440=)
c.998C= (p.Thr333=)
c.1163C= (p.Thr388=)
c.*663C= (n.*663C=)
c.830C= (p.Thr277=)
c.1289C= (p.Thr430=)
c.1181C= (p.Thr394=)
c.1334C= (p.Thr445=)
c.1286C= (p.Thr429=)
c.1169C= (p.Thr390=)
c.1151C= (p.Thr384=)
3g.69965004C>GCA353559637MITFc.1271C>G (p.Thr424Arg)
c.1268C>G (p.Thr423Arg)
n.1493C>G
c.1244C>G (p.Thr415Arg)
c.*82C>G (n.*82C>G)
c.1337C>G (p.Thr446Arg)
c.1016C>G (p.Thr339Arg)
c.1316C>G (p.Thr439Arg)
c.1319C>G (p.Thr440Arg)
c.998C>G (p.Thr333Arg)
c.1163C>G (p.Thr388Arg)
c.*663C>G (n.*663C>G)
c.830C>G (p.Thr277Arg)
c.1289C>G (p.Thr430Arg)
c.1181C>G (p.Thr394Arg)
c.1334C>G (p.Thr445Arg)
c.1286C>G (p.Thr429Arg)
c.1169C>G (p.Thr390Arg)
c.1151C>G (p.Thr384Arg)
3g.69965004C>TCA353559638MITFc.1271C>T (p.Thr424Ile)
c.1268C>T (p.Thr423Ile)
n.1493C>T
c.1244C>T (p.Thr415Ile)
c.*82C>T (n.*82C>T)
c.1337C>T (p.Thr446Ile)
c.1016C>T (p.Thr339Ile)
c.1316C>T (p.Thr439Ile)
c.1319C>T (p.Thr440Ile)
c.998C>T (p.Thr333Ile)
c.1163C>T (p.Thr388Ile)
c.*663C>T (n.*663C>T)
c.830C>T (p.Thr277Ile)
c.1289C>T (p.Thr430Ile)
c.1181C>T (p.Thr394Ile)
c.1334C>T (p.Thr445Ile)
c.1286C>T (p.Thr429Ile)
c.1169C>T (p.Thr390Ile)
c.1151C>T (p.Thr384Ile)
 dbSNP
3g.69965005A>CCA434433706MITFc.1272A>C (p.Thr424=)
c.1269A>C (p.Thr423=)
n.1494A>C
c.1245A>C (p.Thr415=)
c.*83A>C (n.*83A>C)
c.1338A>C (p.Thr446=)
c.1017A>C (p.Thr339=)
c.1317A>C (p.Thr439=)
c.1320A>C (p.Thr440=)
c.999A>C (p.Thr333=)
c.1164A>C (p.Thr388=)
c.*664A>C (n.*664A>C)
c.831A>C (p.Thr277=)
c.1290A>C (p.Thr430=)
c.1182A>C (p.Thr394=)
c.1335A>C (p.Thr445=)
c.1287A>C (p.Thr429=)
c.1170A>C (p.Thr390=)
c.1152A>C (p.Thr384=)
3g.69965005A>GCA434433707MITFc.1272A>G (p.Thr424=)
c.1269A>G (p.Thr423=)
n.1494A>G
c.1245A>G (p.Thr415=)
c.*83A>G (n.*83A>G)
c.1338A>G (p.Thr446=)
c.1017A>G (p.Thr339=)
c.1317A>G (p.Thr439=)
c.1320A>G (p.Thr440=)
c.999A>G (p.Thr333=)
c.1164A>G (p.Thr388=)
c.*664A>G (n.*664A>G)
c.831A>G (p.Thr277=)
c.1290A>G (p.Thr430=)
c.1182A>G (p.Thr394=)
c.1335A>G (p.Thr445=)
c.1287A>G (p.Thr429=)
c.1170A>G (p.Thr390=)
c.1152A>G (p.Thr384=)
3g.69965005A>TCA434433708MITFc.1272A>T (p.Thr424=)
c.1269A>T (p.Thr423=)
n.1494A>T
c.1245A>T (p.Thr415=)
c.*83A>T (n.*83A>T)
c.1338A>T (p.Thr446=)
c.1017A>T (p.Thr339=)
c.1317A>T (p.Thr439=)
c.1320A>T (p.Thr440=)
c.999A>T (p.Thr333=)
c.1164A>T (p.Thr388=)
c.*664A>T (n.*664A>T)
c.831A>T (p.Thr277=)
c.1290A>T (p.Thr430=)
c.1182A>T (p.Thr394=)
c.1335A>T (p.Thr445=)
c.1287A>T (p.Thr429=)
c.1170A>T (p.Thr390=)
c.1152A>T (p.Thr384=)
3g.69965006A>CCA353559641MITFc.1273A>C (p.Thr425Pro)
c.1270A>C (p.Thr424Pro)
n.1495A>C
c.1246A>C (p.Thr416Pro)
c.*84A>C (n.*84A>C)
c.1339A>C (p.Thr447Pro)
c.1018A>C (p.Thr340Pro)
c.1318A>C (p.Thr440Pro)
c.1321A>C (p.Thr441Pro)
c.1000A>C (p.Thr334Pro)
c.1165A>C (p.Thr389Pro)
c.*665A>C (n.*665A>C)
c.832A>C (p.Thr278Pro)
c.1291A>C (p.Thr431Pro)
c.1183A>C (p.Thr395Pro)
c.1336A>C (p.Thr446Pro)
c.1288A>C (p.Thr430Pro)
c.1171A>C (p.Thr391Pro)
c.1153A>C (p.Thr385Pro)
 gnomAD v4
3g.69965006A>GCA353559640MITFc.1273A>G (p.Thr425Ala)
c.1270A>G (p.Thr424Ala)
n.1495A>G
c.1246A>G (p.Thr416Ala)
c.*84A>G (n.*84A>G)
c.1339A>G (p.Thr447Ala)
c.1018A>G (p.Thr340Ala)
c.1318A>G (p.Thr440Ala)
c.1321A>G (p.Thr441Ala)
c.1000A>G (p.Thr334Ala)
c.1165A>G (p.Thr389Ala)
c.*665A>G (n.*665A>G)
c.832A>G (p.Thr278Ala)
c.1291A>G (p.Thr431Ala)
c.1183A>G (p.Thr395Ala)
c.1336A>G (p.Thr446Ala)
c.1288A>G (p.Thr430Ala)
c.1171A>G (p.Thr391Ala)
c.1153A>G (p.Thr385Ala)
3g.69965006A>TCA353559639MITFc.1273A>T (p.Thr425Ser)
c.1270A>T (p.Thr424Ser)
n.1495A>T
c.1246A>T (p.Thr416Ser)
c.*84A>T (n.*84A>T)
c.1339A>T (p.Thr447Ser)
c.1018A>T (p.Thr340Ser)
c.1318A>T (p.Thr440Ser)
c.1321A>T (p.Thr441Ser)
c.1000A>T (p.Thr334Ser)
c.1165A>T (p.Thr389Ser)
c.*665A>T (n.*665A>T)
c.832A>T (p.Thr278Ser)
c.1291A>T (p.Thr431Ser)
c.1183A>T (p.Thr395Ser)
c.1336A>T (p.Thr446Ser)
c.1288A>T (p.Thr430Ser)
c.1171A>T (p.Thr391Ser)
c.1153A>T (p.Thr385Ser)
3g.69965007C>ACA353559642MITFc.1274C>A (p.Thr425Asn)
c.1271C>A (p.Thr424Asn)
n.1496C>A
c.1247C>A (p.Thr416Asn)
c.*85C>A (n.*85C>A)
c.1340C>A (p.Thr447Asn)
c.1019C>A (p.Thr340Asn)
c.1319C>A (p.Thr440Asn)
c.1322C>A (p.Thr441Asn)
c.1001C>A (p.Thr334Asn)
c.1166C>A (p.Thr389Asn)
c.*666C>A (n.*666C>A)
c.833C>A (p.Thr278Asn)
c.1292C>A (p.Thr431Asn)
c.1184C>A (p.Thr395Asn)
c.1337C>A (p.Thr446Asn)
c.1289C>A (p.Thr430Asn)
c.1172C>A (p.Thr391Asn)
c.1154C>A (p.Thr385Asn)
3g.69965007C>GCA353559643MITFc.1274C>G (p.Thr425Ser)
c.1271C>G (p.Thr424Ser)
n.1496C>G
c.1247C>G (p.Thr416Ser)
c.*85C>G (n.*85C>G)
c.1340C>G (p.Thr447Ser)
c.1019C>G (p.Thr340Ser)
c.1319C>G (p.Thr440Ser)
c.1322C>G (p.Thr441Ser)
c.1001C>G (p.Thr334Ser)
c.1166C>G (p.Thr389Ser)
c.*666C>G (n.*666C>G)
c.833C>G (p.Thr278Ser)
c.1292C>G (p.Thr431Ser)
c.1184C>G (p.Thr395Ser)
c.1337C>G (p.Thr446Ser)
c.1289C>G (p.Thr430Ser)
c.1172C>G (p.Thr391Ser)
c.1154C>G (p.Thr385Ser)
3g.69965007C>TCA353559644MITFc.1274C>T (p.Thr425Ile)
c.1271C>T (p.Thr424Ile)
n.1496C>T
c.1247C>T (p.Thr416Ile)
c.*85C>T (n.*85C>T)
c.1340C>T (p.Thr447Ile)
c.1019C>T (p.Thr340Ile)
c.1319C>T (p.Thr440Ile)
c.1322C>T (p.Thr441Ile)
c.1001C>T (p.Thr334Ile)
c.1166C>T (p.Thr389Ile)
c.*666C>T (n.*666C>T)
c.833C>T (p.Thr278Ile)
c.1292C>T (p.Thr431Ile)
c.1184C>T (p.Thr395Ile)
c.1337C>T (p.Thr446Ile)
c.1289C>T (p.Thr430Ile)
c.1172C>T (p.Thr391Ile)
c.1154C>T (p.Thr385Ile)
 dbSNP
3g.69965010_69965011delCA2586972657MITFc.1277_1278del (p.Leu426ArgfsTer18)
c.1274_1275del (p.Leu425ArgfsTer18)
n.1499_1500del
c.1250_1251del (p.Leu417ArgfsTer18)
c.*88_*89del (n.*88_*89del)
c.1343_1344del (p.Leu448ArgfsTer18)
c.1022_1023del (p.Leu341ArgfsTer18)
c.1322_1323del (p.Leu441ArgfsTer18)
c.1325_1326del (p.Leu442ArgfsTer18)
c.1004_1005del (p.Leu335ArgfsTer18)
c.1169_1170del (p.Leu390ArgfsTer18)
c.*669_*670del (n.*669_*670del)
c.836_837del (p.Leu279ArgfsTer18)
c.1295_1296del (p.Leu432ArgfsTer18)
c.1187_1188del (p.Leu396ArgfsTer18)
c.1340_1341del (p.Leu447ArgfsTer18)
c.1292_1293del (p.Leu431ArgfsTer18)
c.1175_1176del (p.Leu392ArgfsTer18)
c.1157_1158del (p.Leu386ArgfsTer18)
3g.69965008T>ACA434433709MITFc.1275T>A (p.Thr425=)
c.1272T>A (p.Thr424=)
n.1497T>A
c.1248T>A (p.Thr416=)
c.*86T>A (n.*86T>A)
c.1341T>A (p.Thr447=)
c.1020T>A (p.Thr340=)
c.1320T>A (p.Thr440=)
c.1323T>A (p.Thr441=)
c.1002T>A (p.Thr334=)
c.1167T>A (p.Thr389=)
c.*667T>A (n.*667T>A)
c.834T>A (p.Thr278=)
c.1293T>A (p.Thr431=)
c.1185T>A (p.Thr395=)
c.1338T>A (p.Thr446=)
c.1290T>A (p.Thr430=)
c.1173T>A (p.Thr391=)
c.1155T>A (p.Thr385=)
3g.69965008T>CCA434433710MITFc.1275T>C (p.Thr425=)
c.1272T>C (p.Thr424=)
n.1497T>C
c.1248T>C (p.Thr416=)
c.*86T>C (n.*86T>C)
c.1341T>C (p.Thr447=)
c.1020T>C (p.Thr340=)
c.1320T>C (p.Thr440=)
c.1323T>C (p.Thr441=)
c.1002T>C (p.Thr334=)
c.1167T>C (p.Thr389=)
c.*667T>C (n.*667T>C)
c.834T>C (p.Thr278=)
c.1293T>C (p.Thr431=)
c.1185T>C (p.Thr395=)
c.1338T>C (p.Thr446=)
c.1290T>C (p.Thr430=)
c.1173T>C (p.Thr391=)
c.1155T>C (p.Thr385=)
 gnomAD v4
3g.69965008T>GCA434433712MITFc.1275T>G (p.Thr425=)
c.1272T>G (p.Thr424=)
n.1497T>G
c.1248T>G (p.Thr416=)
c.*86T>G (n.*86T>G)
c.1341T>G (p.Thr447=)
c.1020T>G (p.Thr340=)
c.1320T>G (p.Thr440=)
c.1323T>G (p.Thr441=)
c.1002T>G (p.Thr334=)
c.1167T>G (p.Thr389=)
c.*667T>G (n.*667T>G)
c.834T>G (p.Thr278=)
c.1293T>G (p.Thr431=)
c.1185T>G (p.Thr395=)
c.1338T>G (p.Thr446=)
c.1290T>G (p.Thr430=)
c.1173T>G (p.Thr391=)
c.1155T>G (p.Thr385=)
3g.69965009C>ACA353559645MITFc.1276C>A (p.Leu426Ile)
c.1273C>A (p.Leu425Ile)
n.1498C>A
c.1249C>A (p.Leu417Ile)
c.*87C>A (n.*87C>A)
c.1342C>A (p.Leu448Ile)
c.1021C>A (p.Leu341Ile)
c.1321C>A (p.Leu441Ile)
c.1324C>A (p.Leu442Ile)
c.1003C>A (p.Leu335Ile)
c.1168C>A (p.Leu390Ile)
c.*668C>A (n.*668C>A)
c.835C>A (p.Leu279Ile)
c.1294C>A (p.Leu432Ile)
c.1186C>A (p.Leu396Ile)
c.1339C>A (p.Leu447Ile)
c.1291C>A (p.Leu431Ile)
c.1174C>A (p.Leu392Ile)
c.1156C>A (p.Leu386Ile)
3g.69965009C=CA1373414145MITFc.1276C= (p.Leu426=)
c.1273C= (p.Leu425=)
n.1498C=
c.1249C= (p.Leu417=)
c.*87C= (n.*87C=)
c.1342C= (p.Leu448=)
c.1021C= (p.Leu341=)
c.1321C= (p.Leu441=)
c.1324C= (p.Leu442=)
c.1003C= (p.Leu335=)
c.1168C= (p.Leu390=)
c.*668C= (n.*668C=)
c.835C= (p.Leu279=)
c.1294C= (p.Leu432=)
c.1186C= (p.Leu396=)
c.1339C= (p.Leu447=)
c.1291C= (p.Leu431=)
c.1174C= (p.Leu392=)
c.1156C= (p.Leu386=)
3g.69965009C>GCA353559646MITFc.1276C>G (p.Leu426Val)
c.1273C>G (p.Leu425Val)
n.1498C>G
c.1249C>G (p.Leu417Val)
c.*87C>G (n.*87C>G)
c.1342C>G (p.Leu448Val)
c.1021C>G (p.Leu341Val)
c.1321C>G (p.Leu441Val)
c.1324C>G (p.Leu442Val)
c.1003C>G (p.Leu335Val)
c.1168C>G (p.Leu390Val)
c.*668C>G (n.*668C>G)
c.835C>G (p.Leu279Val)
c.1294C>G (p.Leu432Val)
c.1186C>G (p.Leu396Val)
c.1339C>G (p.Leu447Val)
c.1291C>G (p.Leu431Val)
c.1174C>G (p.Leu392Val)
c.1156C>G (p.Leu386Val)
 dbSNP gnomAD v4
3g.69965009C>TCA2490643MITFc.1276C>T (p.Leu426Phe)
c.1273C>T (p.Leu425Phe)
n.1498C>T
c.1249C>T (p.Leu417Phe)
c.*87C>T (n.*87C>T)
c.1342C>T (p.Leu448Phe)
c.1021C>T (p.Leu341Phe)
c.1321C>T (p.Leu441Phe)
c.1324C>T (p.Leu442Phe)
c.1003C>T (p.Leu335Phe)
c.1168C>T (p.Leu390Phe)
c.*668C>T (n.*668C>T)
c.835C>T (p.Leu279Phe)
c.1294C>T (p.Leu432Phe)
c.1186C>T (p.Leu396Phe)
c.1339C>T (p.Leu447Phe)
c.1291C>T (p.Leu431Phe)
c.1174C>T (p.Leu392Phe)
c.1156C>T (p.Leu386Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965010T>ACA353559647MITFc.1277T>A (p.Leu426His)
c.1274T>A (p.Leu425His)
n.1499T>A
c.1250T>A (p.Leu417His)
c.*88T>A (n.*88T>A)
c.1343T>A (p.Leu448His)
c.1022T>A (p.Leu341His)
c.1322T>A (p.Leu441His)
c.1325T>A (p.Leu442His)
c.1004T>A (p.Leu335His)
c.1169T>A (p.Leu390His)
c.*669T>A (n.*669T>A)
c.836T>A (p.Leu279His)
c.1295T>A (p.Leu432His)
c.1187T>A (p.Leu396His)
c.1340T>A (p.Leu447His)
c.1292T>A (p.Leu431His)
c.1175T>A (p.Leu392His)
c.1157T>A (p.Leu386His)
3g.69965010T>CCA353559648MITFc.1277T>C (p.Leu426Pro)
c.1274T>C (p.Leu425Pro)
n.1499T>C
c.1250T>C (p.Leu417Pro)
c.*88T>C (n.*88T>C)
c.1343T>C (p.Leu448Pro)
c.1022T>C (p.Leu341Pro)
c.1322T>C (p.Leu441Pro)
c.1325T>C (p.Leu442Pro)
c.1004T>C (p.Leu335Pro)
c.1169T>C (p.Leu390Pro)
c.*669T>C (n.*669T>C)
c.836T>C (p.Leu279Pro)
c.1295T>C (p.Leu432Pro)
c.1187T>C (p.Leu396Pro)
c.1340T>C (p.Leu447Pro)
c.1292T>C (p.Leu431Pro)
c.1175T>C (p.Leu392Pro)
c.1157T>C (p.Leu386Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.69965010T>GCA353559649MITFc.1277T>G (p.Leu426Arg)
c.1274T>G (p.Leu425Arg)
n.1499T>G
c.1250T>G (p.Leu417Arg)
c.*88T>G (n.*88T>G)
c.1343T>G (p.Leu448Arg)
c.1022T>G (p.Leu341Arg)
c.1322T>G (p.Leu441Arg)
c.1325T>G (p.Leu442Arg)
c.1004T>G (p.Leu335Arg)
c.1169T>G (p.Leu390Arg)
c.*669T>G (n.*669T>G)
c.836T>G (p.Leu279Arg)
c.1295T>G (p.Leu432Arg)
c.1187T>G (p.Leu396Arg)
c.1340T>G (p.Leu447Arg)
c.1292T>G (p.Leu431Arg)
c.1175T>G (p.Leu392Arg)
c.1157T>G (p.Leu386Arg)
 dbSNP gnomAD v4
3g.69965010T=CA1373414147MITFc.1277T= (p.Leu426=)
c.1274T= (p.Leu425=)
n.1499T=
c.1250T= (p.Leu417=)
c.*88T= (n.*88T=)
c.1343T= (p.Leu448=)
c.1022T= (p.Leu341=)
c.1322T= (p.Leu441=)
c.1325T= (p.Leu442=)
c.1004T= (p.Leu335=)
c.1169T= (p.Leu390=)
c.*669T= (n.*669T=)
c.836T= (p.Leu279=)
c.1295T= (p.Leu432=)
c.1187T= (p.Leu396=)
c.1340T= (p.Leu447=)
c.1292T= (p.Leu431=)
c.1175T= (p.Leu392=)
c.1157T= (p.Leu386=)
3g.69965011C>ACA434433715MITFc.1278C>A (p.Leu426=)
c.1275C>A (p.Leu425=)
n.1500C>A
c.1251C>A (p.Leu417=)
c.*89C>A (n.*89C>A)
c.1344C>A (p.Leu448=)
c.1023C>A (p.Leu341=)
c.1323C>A (p.Leu441=)
c.1326C>A (p.Leu442=)
c.1005C>A (p.Leu335=)
c.1170C>A (p.Leu390=)
c.*670C>A (n.*670C>A)
c.837C>A (p.Leu279=)
c.1296C>A (p.Leu432=)
c.1188C>A (p.Leu396=)
c.1341C>A (p.Leu447=)
c.1293C>A (p.Leu431=)
c.1176C>A (p.Leu392=)
c.1158C>A (p.Leu386=)
 gnomAD v4
3g.69965011C=CA1373414151MITFc.1278C= (p.Leu426=)
c.1275C= (p.Leu425=)
n.1500C=
c.1251C= (p.Leu417=)
c.*89C= (n.*89C=)
c.1344C= (p.Leu448=)
c.1023C= (p.Leu341=)
c.1323C= (p.Leu441=)
c.1326C= (p.Leu442=)
c.1005C= (p.Leu335=)
c.1170C= (p.Leu390=)
c.*670C= (n.*670C=)
c.837C= (p.Leu279=)
c.1296C= (p.Leu432=)
c.1188C= (p.Leu396=)
c.1341C= (p.Leu447=)
c.1293C= (p.Leu431=)
c.1176C= (p.Leu392=)
c.1158C= (p.Leu386=)
3g.69965011C>GCA434433716MITFc.1278C>G (p.Leu426=)
c.1275C>G (p.Leu425=)
n.1500C>G
c.1251C>G (p.Leu417=)
c.*89C>G (n.*89C>G)
c.1344C>G (p.Leu448=)
c.1023C>G (p.Leu341=)
c.1323C>G (p.Leu441=)
c.1326C>G (p.Leu442=)
c.1005C>G (p.Leu335=)
c.1170C>G (p.Leu390=)
c.*670C>G (n.*670C>G)
c.837C>G (p.Leu279=)
c.1296C>G (p.Leu432=)
c.1188C>G (p.Leu396=)
c.1341C>G (p.Leu447=)
c.1293C>G (p.Leu431=)
c.1176C>G (p.Leu392=)
c.1158C>G (p.Leu386=)
3g.69965011C>TCA2490644MITFc.1278C>T (p.Leu426=)
c.1275C>T (p.Leu425=)
n.1500C>T
c.1251C>T (p.Leu417=)
c.*89C>T (n.*89C>T)
c.1344C>T (p.Leu448=)
c.1023C>T (p.Leu341=)
c.1323C>T (p.Leu441=)
c.1326C>T (p.Leu442=)
c.1005C>T (p.Leu335=)
c.1170C>T (p.Leu390=)
c.*670C>T (n.*670C>T)
c.837C>T (p.Leu279=)
c.1296C>T (p.Leu432=)
c.1188C>T (p.Leu396=)
c.1341C>T (p.Leu447=)
c.1293C>T (p.Leu431=)
c.1176C>T (p.Leu392=)
c.1158C>T (p.Leu386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965012G>ACA77003523MITFc.1279G>A (p.Asp427Asn)
c.1276G>A (p.Asp426Asn)
n.1501G>A
c.1252G>A (p.Asp418Asn)
c.*90G>A (n.*90G>A)
c.1345G>A (p.Asp449Asn)
c.1024G>A (p.Asp342Asn)
c.1324G>A (p.Asp442Asn)
c.1327G>A (p.Asp443Asn)
c.1006G>A (p.Asp336Asn)
c.1171G>A (p.Asp391Asn)
c.*671G>A (n.*671G>A)
c.838G>A (p.Asp280Asn)
c.1297G>A (p.Asp433Asn)
c.1189G>A (p.Asp397Asn)
c.1342G>A (p.Asp448Asn)
c.1294G>A (p.Asp432Asn)
c.1177G>A (p.Asp393Asn)
c.1159G>A (p.Asp387Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965012G>CCA353559650MITFc.1279G>C (p.Asp427His)
c.1276G>C (p.Asp426His)
n.1501G>C
c.1252G>C (p.Asp418His)
c.*90G>C (n.*90G>C)
c.1345G>C (p.Asp449His)
c.1024G>C (p.Asp342His)
c.1324G>C (p.Asp442His)
c.1327G>C (p.Asp443His)
c.1006G>C (p.Asp336His)
c.1171G>C (p.Asp391His)
c.*671G>C (n.*671G>C)
c.838G>C (p.Asp280His)
c.1297G>C (p.Asp433His)
c.1189G>C (p.Asp397His)
c.1342G>C (p.Asp448His)
c.1294G>C (p.Asp432His)
c.1177G>C (p.Asp393His)
c.1159G>C (p.Asp387His)
3g.69965012G=CA1373414158MITFc.1279G= (p.Asp427=)
c.1276G= (p.Asp426=)
n.1501G=
c.1252G= (p.Asp418=)
c.*90G= (n.*90G=)
c.1345G= (p.Asp449=)
c.1024G= (p.Asp342=)
c.1324G= (p.Asp442=)
c.1327G= (p.Asp443=)
c.1006G= (p.Asp336=)
c.1171G= (p.Asp391=)
c.*671G= (n.*671G=)
c.838G= (p.Asp280=)
c.1297G= (p.Asp433=)
c.1189G= (p.Asp397=)
c.1342G= (p.Asp448=)
c.1294G= (p.Asp432=)
c.1177G= (p.Asp393=)
c.1159G= (p.Asp387=)
3g.69965012G>TCA353559651MITFc.1279G>T (p.Asp427Tyr)
c.1276G>T (p.Asp426Tyr)
n.1501G>T
c.1252G>T (p.Asp418Tyr)
c.*90G>T (n.*90G>T)
c.1345G>T (p.Asp449Tyr)
c.1024G>T (p.Asp342Tyr)
c.1324G>T (p.Asp442Tyr)
c.1327G>T (p.Asp443Tyr)
c.1006G>T (p.Asp336Tyr)
c.1171G>T (p.Asp391Tyr)
c.*671G>T (n.*671G>T)
c.838G>T (p.Asp280Tyr)
c.1297G>T (p.Asp433Tyr)
c.1189G>T (p.Asp397Tyr)
c.1342G>T (p.Asp448Tyr)
c.1294G>T (p.Asp432Tyr)
c.1177G>T (p.Asp393Tyr)
c.1159G>T (p.Asp387Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.69965012delinsATCA2586972658MITFc.1279delinsAT (p.Asp427IlefsTer18)
c.1276delinsAT (p.Asp426IlefsTer18)
n.1501delinsAT
c.1252delinsAT (p.Asp418IlefsTer18)
c.*90delinsAT (n.*90delinsAT)
c.1345delinsAT (p.Asp449IlefsTer18)
c.1024delinsAT (p.Asp342IlefsTer18)
c.1324delinsAT (p.Asp442IlefsTer18)
c.1327delinsAT (p.Asp443IlefsTer18)
c.1006delinsAT (p.Asp336IlefsTer18)
c.1171delinsAT (p.Asp391IlefsTer18)
c.*671delinsAT (n.*671delinsAT)
c.838delinsAT (p.Asp280IlefsTer18)
c.1297delinsAT (p.Asp433IlefsTer18)
c.1189delinsAT (p.Asp397IlefsTer18)
c.1342delinsAT (p.Asp448IlefsTer18)
c.1294delinsAT (p.Asp432IlefsTer18)
c.1177delinsAT (p.Asp393IlefsTer18)
c.1159delinsAT (p.Asp387IlefsTer18)
3g.69965013A>CCA353559654MITFc.1280A>C (p.Asp427Ala)
c.1277A>C (p.Asp426Ala)
n.1502A>C
c.1253A>C (p.Asp418Ala)
c.*91A>C (n.*91A>C)
c.1346A>C (p.Asp449Ala)
c.1025A>C (p.Asp342Ala)
c.1325A>C (p.Asp442Ala)
c.1328A>C (p.Asp443Ala)
c.1007A>C (p.Asp336Ala)
c.1172A>C (p.Asp391Ala)
c.*672A>C (n.*672A>C)
c.839A>C (p.Asp280Ala)
c.1298A>C (p.Asp433Ala)
c.1190A>C (p.Asp397Ala)
c.1343A>C (p.Asp448Ala)
c.1295A>C (p.Asp432Ala)
c.1178A>C (p.Asp393Ala)
c.1160A>C (p.Asp387Ala)
3g.69965013A>GCA353559653MITFc.1280A>G (p.Asp427Gly)
c.1277A>G (p.Asp426Gly)
n.1502A>G
c.1253A>G (p.Asp418Gly)
c.*91A>G (n.*91A>G)
c.1346A>G (p.Asp449Gly)
c.1025A>G (p.Asp342Gly)
c.1325A>G (p.Asp442Gly)
c.1328A>G (p.Asp443Gly)
c.1007A>G (p.Asp336Gly)
c.1172A>G (p.Asp391Gly)
c.*672A>G (n.*672A>G)
c.839A>G (p.Asp280Gly)
c.1298A>G (p.Asp433Gly)
c.1190A>G (p.Asp397Gly)
c.1343A>G (p.Asp448Gly)
c.1295A>G (p.Asp432Gly)
c.1178A>G (p.Asp393Gly)
c.1160A>G (p.Asp387Gly)
3g.69965013A>TCA353559652MITFc.1280A>T (p.Asp427Val)
c.1277A>T (p.Asp426Val)
n.1502A>T
c.1253A>T (p.Asp418Val)
c.*91A>T (n.*91A>T)
c.1346A>T (p.Asp449Val)
c.1025A>T (p.Asp342Val)
c.1325A>T (p.Asp442Val)
c.1328A>T (p.Asp443Val)
c.1007A>T (p.Asp336Val)
c.1172A>T (p.Asp391Val)
c.*672A>T (n.*672A>T)
c.839A>T (p.Asp280Val)
c.1298A>T (p.Asp433Val)
c.1190A>T (p.Asp397Val)
c.1343A>T (p.Asp448Val)
c.1295A>T (p.Asp432Val)
c.1178A>T (p.Asp393Val)
c.1160A>T (p.Asp387Val)
3g.69965014T>ACA353559655MITFc.1281T>A (p.Asp427Glu)
c.1278T>A (p.Asp426Glu)
n.1503T>A
c.1254T>A (p.Asp418Glu)
c.*92T>A (n.*92T>A)
c.1347T>A (p.Asp449Glu)
c.1026T>A (p.Asp342Glu)
c.1326T>A (p.Asp442Glu)
c.1329T>A (p.Asp443Glu)
c.1008T>A (p.Asp336Glu)
c.1173T>A (p.Asp391Glu)
c.*673T>A (n.*673T>A)
c.840T>A (p.Asp280Glu)
c.1299T>A (p.Asp433Glu)
c.1191T>A (p.Asp397Glu)
c.1344T>A (p.Asp448Glu)
c.1296T>A (p.Asp432Glu)
c.1179T>A (p.Asp393Glu)
c.1161T>A (p.Asp387Glu)
3g.69965014T>CCA434433719MITFc.1281T>C (p.Asp427=)
c.1278T>C (p.Asp426=)
n.1503T>C
c.1254T>C (p.Asp418=)
c.*92T>C (n.*92T>C)
c.1347T>C (p.Asp449=)
c.1026T>C (p.Asp342=)
c.1326T>C (p.Asp442=)
c.1329T>C (p.Asp443=)
c.1008T>C (p.Asp336=)
c.1173T>C (p.Asp391=)
c.*673T>C (n.*673T>C)
c.840T>C (p.Asp280=)
c.1299T>C (p.Asp433=)
c.1191T>C (p.Asp397=)
c.1344T>C (p.Asp448=)
c.1296T>C (p.Asp432=)
c.1179T>C (p.Asp393=)
c.1161T>C (p.Asp387=)
3g.69965014T>GCA353559656MITFc.1281T>G (p.Asp427Glu)
c.1278T>G (p.Asp426Glu)
n.1503T>G
c.1254T>G (p.Asp418Glu)
c.*92T>G (n.*92T>G)
c.1347T>G (p.Asp449Glu)
c.1026T>G (p.Asp342Glu)
c.1326T>G (p.Asp442Glu)
c.1329T>G (p.Asp443Glu)
c.1008T>G (p.Asp336Glu)
c.1173T>G (p.Asp391Glu)
c.*673T>G (n.*673T>G)
c.840T>G (p.Asp280Glu)
c.1299T>G (p.Asp433Glu)
c.1191T>G (p.Asp397Glu)
c.1344T>G (p.Asp448Glu)
c.1296T>G (p.Asp432Glu)
c.1179T>G (p.Asp393Glu)
c.1161T>G (p.Asp387Glu)
3g.69965015C>ACA353559657MITFc.1282C>A (p.Leu428Ile)
c.1279C>A (p.Leu427Ile)
n.1504C>A
c.1255C>A (p.Leu419Ile)
c.*93C>A (n.*93C>A)
c.1348C>A (p.Leu450Ile)
c.1027C>A (p.Leu343Ile)
c.1327C>A (p.Leu443Ile)
c.1330C>A (p.Leu444Ile)
c.1009C>A (p.Leu337Ile)
c.1174C>A (p.Leu392Ile)
c.*674C>A (n.*674C>A)
c.841C>A (p.Leu281Ile)
c.1300C>A (p.Leu434Ile)
c.1192C>A (p.Leu398Ile)
c.1345C>A (p.Leu449Ile)
c.1297C>A (p.Leu433Ile)
c.1180C>A (p.Leu394Ile)
c.1162C>A (p.Leu388Ile)
3g.69965015C=CA1373414162MITFc.1282C= (p.Leu428=)
c.1279C= (p.Leu427=)
n.1504C=
c.1255C= (p.Leu419=)
c.*93C= (n.*93C=)
c.1348C= (p.Leu450=)
c.1027C= (p.Leu343=)
c.1327C= (p.Leu443=)
c.1330C= (p.Leu444=)
c.1009C= (p.Leu337=)
c.1174C= (p.Leu392=)
c.*674C= (n.*674C=)
c.841C= (p.Leu281=)
c.1300C= (p.Leu434=)
c.1192C= (p.Leu398=)
c.1345C= (p.Leu449=)
c.1297C= (p.Leu433=)
c.1180C= (p.Leu394=)
c.1162C= (p.Leu388=)
3g.69965015C>GCA353559659MITFc.1282C>G (p.Leu428Val)
c.1279C>G (p.Leu427Val)
n.1504C>G
c.1255C>G (p.Leu419Val)
c.*93C>G (n.*93C>G)
c.1348C>G (p.Leu450Val)
c.1027C>G (p.Leu343Val)
c.1327C>G (p.Leu443Val)
c.1330C>G (p.Leu444Val)
c.1009C>G (p.Leu337Val)
c.1174C>G (p.Leu392Val)
c.*674C>G (n.*674C>G)
c.841C>G (p.Leu281Val)
c.1300C>G (p.Leu434Val)
c.1192C>G (p.Leu398Val)
c.1345C>G (p.Leu449Val)
c.1297C>G (p.Leu433Val)
c.1180C>G (p.Leu394Val)
c.1162C>G (p.Leu388Val)
 dbSNP gnomAD v4
3g.69965015C>TCA353559658MITFc.1282C>T (p.Leu428Phe)
c.1279C>T (p.Leu427Phe)
n.1504C>T
c.1255C>T (p.Leu419Phe)
c.*93C>T (n.*93C>T)
c.1348C>T (p.Leu450Phe)
c.1027C>T (p.Leu343Phe)
c.1327C>T (p.Leu443Phe)
c.1330C>T (p.Leu444Phe)
c.1009C>T (p.Leu337Phe)
c.1174C>T (p.Leu392Phe)
c.*674C>T (n.*674C>T)
c.841C>T (p.Leu281Phe)
c.1300C>T (p.Leu434Phe)
c.1192C>T (p.Leu398Phe)
c.1345C>T (p.Leu449Phe)
c.1297C>T (p.Leu433Phe)
c.1180C>T (p.Leu394Phe)
c.1162C>T (p.Leu388Phe)
3g.69965016T>ACA353559660MITFc.1283T>A (p.Leu428His)
c.1280T>A (p.Leu427His)
n.1505T>A
c.1256T>A (p.Leu419His)
c.*94T>A (n.*94T>A)
c.1349T>A (p.Leu450His)
c.1028T>A (p.Leu343His)
c.1328T>A (p.Leu443His)
c.1331T>A (p.Leu444His)
c.1010T>A (p.Leu337His)
c.1175T>A (p.Leu392His)
c.*675T>A (n.*675T>A)
c.842T>A (p.Leu281His)
c.1301T>A (p.Leu434His)
c.1193T>A (p.Leu398His)
c.1346T>A (p.Leu449His)
c.1298T>A (p.Leu433His)
c.1181T>A (p.Leu394His)
c.1163T>A (p.Leu388His)
3g.69965016T>CCA353559662MITFc.1283T>C (p.Leu428Pro)
c.1280T>C (p.Leu427Pro)
n.1505T>C
c.1256T>C (p.Leu419Pro)
c.*94T>C (n.*94T>C)
c.1349T>C (p.Leu450Pro)
c.1028T>C (p.Leu343Pro)
c.1328T>C (p.Leu443Pro)
c.1331T>C (p.Leu444Pro)
c.1010T>C (p.Leu337Pro)
c.1175T>C (p.Leu392Pro)
c.*675T>C (n.*675T>C)
c.842T>C (p.Leu281Pro)
c.1301T>C (p.Leu434Pro)
c.1193T>C (p.Leu398Pro)
c.1346T>C (p.Leu449Pro)
c.1298T>C (p.Leu433Pro)
c.1181T>C (p.Leu394Pro)
c.1163T>C (p.Leu388Pro)
 gnomAD v4
3g.69965016T>GCA353559661MITFc.1283T>G (p.Leu428Arg)
c.1280T>G (p.Leu427Arg)
n.1505T>G
c.1256T>G (p.Leu419Arg)
c.*94T>G (n.*94T>G)
c.1349T>G (p.Leu450Arg)
c.1028T>G (p.Leu343Arg)
c.1328T>G (p.Leu443Arg)
c.1331T>G (p.Leu444Arg)
c.1010T>G (p.Leu337Arg)
c.1175T>G (p.Leu392Arg)
c.*675T>G (n.*675T>G)
c.842T>G (p.Leu281Arg)
c.1301T>G (p.Leu434Arg)
c.1193T>G (p.Leu398Arg)
c.1346T>G (p.Leu449Arg)
c.1298T>G (p.Leu433Arg)
c.1181T>G (p.Leu394Arg)
c.1163T>G (p.Leu388Arg)
3g.69965017C>ACA434433720MITFc.1284C>A (p.Leu428=)
c.1281C>A (p.Leu427=)
n.1506C>A
c.1257C>A (p.Leu419=)
c.*95C>A (n.*95C>A)
c.1350C>A (p.Leu450=)
c.1029C>A (p.Leu343=)
c.1329C>A (p.Leu443=)
c.1332C>A (p.Leu444=)
c.1011C>A (p.Leu337=)
c.1176C>A (p.Leu392=)
c.*676C>A (n.*676C>A)
c.843C>A (p.Leu281=)
c.1302C>A (p.Leu434=)
c.1194C>A (p.Leu398=)
c.1347C>A (p.Leu449=)
c.1299C>A (p.Leu433=)
c.1182C>A (p.Leu394=)
c.1164C>A (p.Leu388=)
3g.69965017C=CA1373414166MITFc.1284C= (p.Leu428=)
c.1281C= (p.Leu427=)
n.1506C=
c.1257C= (p.Leu419=)
c.*95C= (n.*95C=)
c.1350C= (p.Leu450=)
c.1029C= (p.Leu343=)
c.1329C= (p.Leu443=)
c.1332C= (p.Leu444=)
c.1011C= (p.Leu337=)
c.1176C= (p.Leu392=)
c.*676C= (n.*676C=)
c.843C= (p.Leu281=)
c.1302C= (p.Leu434=)
c.1194C= (p.Leu398=)
c.1347C= (p.Leu449=)
c.1299C= (p.Leu433=)
c.1182C= (p.Leu394=)
c.1164C= (p.Leu388=)
3g.69965017C>GCA434433721MITFc.1284C>G (p.Leu428=)
c.1281C>G (p.Leu427=)
n.1506C>G
c.1257C>G (p.Leu419=)
c.*95C>G (n.*95C>G)
c.1350C>G (p.Leu450=)
c.1029C>G (p.Leu343=)
c.1329C>G (p.Leu443=)
c.1332C>G (p.Leu444=)
c.1011C>G (p.Leu337=)
c.1176C>G (p.Leu392=)
c.*676C>G (n.*676C>G)
c.843C>G (p.Leu281=)
c.1302C>G (p.Leu434=)
c.1194C>G (p.Leu398=)
c.1347C>G (p.Leu449=)
c.1299C>G (p.Leu433=)
c.1182C>G (p.Leu394=)
c.1164C>G (p.Leu388=)
3g.69965017C>TCA2490645MITFc.1284C>T (p.Leu428=)
c.1281C>T (p.Leu427=)
n.1506C>T
c.1257C>T (p.Leu419=)
c.*95C>T (n.*95C>T)
c.1350C>T (p.Leu450=)
c.1029C>T (p.Leu343=)
c.1329C>T (p.Leu443=)
c.1332C>T (p.Leu444=)
c.1011C>T (p.Leu337=)
c.1176C>T (p.Leu392=)
c.*676C>T (n.*676C>T)
c.843C>T (p.Leu281=)
c.1302C>T (p.Leu434=)
c.1194C>T (p.Leu398=)
c.1347C>T (p.Leu449=)
c.1299C>T (p.Leu433=)
c.1182C>T (p.Leu394=)
c.1164C>T (p.Leu388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965018A>CCA353559665MITFc.1285A>C (p.Thr429Pro)
c.1282A>C (p.Thr428Pro)
n.1507A>C
c.1258A>C (p.Thr420Pro)
c.*96A>C (n.*96A>C)
c.1351A>C (p.Thr451Pro)
c.1030A>C (p.Thr344Pro)
c.1330A>C (p.Thr444Pro)
c.1333A>C (p.Thr445Pro)
c.1012A>C (p.Thr338Pro)
c.1177A>C (p.Thr393Pro)
c.*677A>C (n.*677A>C)
c.844A>C (p.Thr282Pro)
c.1303A>C (p.Thr435Pro)
c.1195A>C (p.Thr399Pro)
c.1348A>C (p.Thr450Pro)
c.1300A>C (p.Thr434Pro)
c.1183A>C (p.Thr395Pro)
c.1165A>C (p.Thr389Pro)
 gnomAD v4
3g.69965018A>GCA353559663MITFc.1285A>G (p.Thr429Ala)
c.1282A>G (p.Thr428Ala)
n.1507A>G
c.1258A>G (p.Thr420Ala)
c.*96A>G (n.*96A>G)
c.1351A>G (p.Thr451Ala)
c.1030A>G (p.Thr344Ala)
c.1330A>G (p.Thr444Ala)
c.1333A>G (p.Thr445Ala)
c.1012A>G (p.Thr338Ala)
c.1177A>G (p.Thr393Ala)
c.*677A>G (n.*677A>G)
c.844A>G (p.Thr282Ala)
c.1303A>G (p.Thr435Ala)
c.1195A>G (p.Thr399Ala)
c.1348A>G (p.Thr450Ala)
c.1300A>G (p.Thr434Ala)
c.1183A>G (p.Thr395Ala)
c.1165A>G (p.Thr389Ala)
 ClinVar gnomAD v4
3g.69965018A>TCA353559664MITFc.1285A>T (p.Thr429Ser)
c.1282A>T (p.Thr428Ser)
n.1507A>T
c.1258A>T (p.Thr420Ser)
c.*96A>T (n.*96A>T)
c.1351A>T (p.Thr451Ser)
c.1030A>T (p.Thr344Ser)
c.1330A>T (p.Thr444Ser)
c.1333A>T (p.Thr445Ser)
c.1012A>T (p.Thr338Ser)
c.1177A>T (p.Thr393Ser)
c.*677A>T (n.*677A>T)
c.844A>T (p.Thr282Ser)
c.1303A>T (p.Thr435Ser)
c.1195A>T (p.Thr399Ser)
c.1348A>T (p.Thr450Ser)
c.1300A>T (p.Thr434Ser)
c.1183A>T (p.Thr395Ser)
c.1165A>T (p.Thr389Ser)
3g.69965019C>ACA353559666MITFc.1286C>A (p.Thr429Lys)
c.1283C>A (p.Thr428Lys)
n.1508C>A
c.1259C>A (p.Thr420Lys)
c.*97C>A (n.*97C>A)
c.1352C>A (p.Thr451Lys)
c.1031C>A (p.Thr344Lys)
c.1331C>A (p.Thr444Lys)
c.1334C>A (p.Thr445Lys)
c.1013C>A (p.Thr338Lys)
c.1178C>A (p.Thr393Lys)
c.*678C>A (n.*678C>A)
c.845C>A (p.Thr282Lys)
c.1304C>A (p.Thr435Lys)
c.1196C>A (p.Thr399Lys)
c.1349C>A (p.Thr450Lys)
c.1301C>A (p.Thr434Lys)
c.1184C>A (p.Thr395Lys)
c.1166C>A (p.Thr389Lys)
3g.69965019C=CA1373414175MITFc.1286C= (p.Thr429=)
c.1283C= (p.Thr428=)
n.1508C=
c.1259C= (p.Thr420=)
c.*97C= (n.*97C=)
c.1352C= (p.Thr451=)
c.1031C= (p.Thr344=)
c.1331C= (p.Thr444=)
c.1334C= (p.Thr445=)
c.1013C= (p.Thr338=)
c.1178C= (p.Thr393=)
c.*678C= (n.*678C=)
c.845C= (p.Thr282=)
c.1304C= (p.Thr435=)
c.1196C= (p.Thr399=)
c.1349C= (p.Thr450=)
c.1301C= (p.Thr434=)
c.1184C= (p.Thr395=)
c.1166C= (p.Thr389=)
3g.69965019C>GCA353559667MITFc.1286C>G (p.Thr429Arg)
c.1283C>G (p.Thr428Arg)
n.1508C>G
c.1259C>G (p.Thr420Arg)
c.*97C>G (n.*97C>G)
c.1352C>G (p.Thr451Arg)
c.1031C>G (p.Thr344Arg)
c.1331C>G (p.Thr444Arg)
c.1334C>G (p.Thr445Arg)
c.1013C>G (p.Thr338Arg)
c.1178C>G (p.Thr393Arg)
c.*678C>G (n.*678C>G)
c.845C>G (p.Thr282Arg)
c.1304C>G (p.Thr435Arg)
c.1196C>G (p.Thr399Arg)
c.1349C>G (p.Thr450Arg)
c.1301C>G (p.Thr434Arg)
c.1184C>G (p.Thr395Arg)
c.1166C>G (p.Thr389Arg)
3g.69965019C>TCA2490646MITFc.1286C>T (p.Thr429Met)
c.1283C>T (p.Thr428Met)
n.1508C>T
c.1259C>T (p.Thr420Met)
c.*97C>T (n.*97C>T)
c.1352C>T (p.Thr451Met)
c.1031C>T (p.Thr344Met)
c.1331C>T (p.Thr444Met)
c.1334C>T (p.Thr445Met)
c.1013C>T (p.Thr338Met)
c.1178C>T (p.Thr393Met)
c.*678C>T (n.*678C>T)
c.845C>T (p.Thr282Met)
c.1304C>T (p.Thr435Met)
c.1196C>T (p.Thr399Met)
c.1349C>T (p.Thr450Met)
c.1301C>T (p.Thr434Met)
c.1184C>T (p.Thr395Met)
c.1166C>T (p.Thr389Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965019_69965020delinsCGCA1373414176MITFc.1286_1287delinsCG (p.Thr429=)
c.1283_1284delinsCG (p.Thr428=)
n.1508_1509delinsCG
c.1259_1260delinsCG (p.Thr420=)
c.*97_*98delinsCG (n.*97_*98delinsCG)
c.1352_1353delinsCG (p.Thr451=)
c.1031_1032delinsCG (p.Thr344=)
c.1331_1332delinsCG (p.Thr444=)
c.1334_1335delinsCG (p.Thr445=)
c.1013_1014delinsCG (p.Thr338=)
c.1178_1179delinsCG (p.Thr393=)
c.*678_*679delinsCG (n.*678_*679delinsCG)
c.845_846delinsCG (p.Thr282=)
c.1304_1305delinsCG (p.Thr435=)
c.1196_1197delinsCG (p.Thr399=)
c.1349_1350delinsCG (p.Thr450=)
c.1301_1302delinsCG (p.Thr434=)
c.1184_1185delinsCG (p.Thr395=)
c.1166_1167delinsCG (p.Thr389=)
3g.69965020G>ACA2490648MITFc.1287G>A (p.Thr429=)
c.1284G>A (p.Thr428=)
n.1509G>A
c.1260G>A (p.Thr420=)
c.*98G>A (n.*98G>A)
c.1353G>A (p.Thr451=)
c.1032G>A (p.Thr344=)
c.1332G>A (p.Thr444=)
c.1335G>A (p.Thr445=)
c.1014G>A (p.Thr338=)
c.1179G>A (p.Thr393=)
c.*679G>A (n.*679G>A)
c.846G>A (p.Thr282=)
c.1305G>A (p.Thr435=)
c.1197G>A (p.Thr399=)
c.1350G>A (p.Thr450=)
c.1302G>A (p.Thr434=)
c.1185G>A (p.Thr395=)
c.1167G>A (p.Thr389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.69965020G>CCA434433723MITFc.1287G>C (p.Thr429=)
c.1284G>C (p.Thr428=)
n.1509G>C
c.1260G>C (p.Thr420=)
c.*98G>C (n.*98G>C)
c.1353G>C (p.Thr451=)
c.1032G>C (p.Thr344=)
c.1332G>C (p.Thr444=)
c.1335G>C (p.Thr445=)
c.1014G>C (p.Thr338=)
c.1179G>C (p.Thr393=)
c.*679G>C (n.*679G>C)
c.846G>C (p.Thr282=)
c.1305G>C (p.Thr435=)
c.1197G>C (p.Thr399=)
c.1350G>C (p.Thr450=)
c.1302G>C (p.Thr434=)
c.1185G>C (p.Thr395=)
c.1167G>C (p.Thr389=)
 dbSNP gnomAD v2 gnomAD v4
3g.69965020G=CA1373414186MITFc.1287G= (p.Thr429=)
c.1284G= (p.Thr428=)
n.1509G=
c.1260G= (p.Thr420=)
c.*98G= (n.*98G=)
c.1353G= (p.Thr451=)
c.1032G= (p.Thr344=)
c.1332G= (p.Thr444=)
c.1335G= (p.Thr445=)
c.1014G= (p.Thr338=)
c.1179G= (p.Thr393=)
c.*679G= (n.*679G=)
c.846G= (p.Thr282=)
c.1305G= (p.Thr435=)
c.1197G= (p.Thr399=)
c.1350G= (p.Thr450=)
c.1302G= (p.Thr434=)
c.1185G= (p.Thr395=)
c.1167G= (p.Thr389=)
3g.69965020G>TCA2490647MITFc.1287G>T (p.Thr429=)
c.1284G>T (p.Thr428=)
n.1509G>T
c.1260G>T (p.Thr420=)
c.*98G>T (n.*98G>T)
c.1353G>T (p.Thr451=)
c.1032G>T (p.Thr344=)
c.1332G>T (p.Thr444=)
c.1335G>T (p.Thr445=)
c.1014G>T (p.Thr338=)
c.1179G>T (p.Thr393=)
c.*679G>T (n.*679G>T)
c.846G>T (p.Thr282=)
c.1305G>T (p.Thr435=)
c.1197G>T (p.Thr399=)
c.1350G>T (p.Thr450=)
c.1302G>T (p.Thr434=)
c.1185G>T (p.Thr395=)
c.1167G>T (p.Thr389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965021delCA1373414184MITFc.1288del (p.Asp430MetfsTer?)
c.1285del (p.Asp429MetfsTer?)
n.1510del
c.1261del (p.Asp421MetfsTer?)
c.*99del (n.*99del)
c.1354del (p.Asp452MetfsTer?)
c.1033del (p.Asp345MetfsTer?)
c.1333del (p.Asp445MetfsTer?)
c.1336del (p.Asp446MetfsTer?)
c.1015del (p.Asp339MetfsTer?)
c.1180del (p.Asp394MetfsTer?)
c.*680del (n.*680del)
c.847del (p.Asp283MetfsTer?)
c.1306del (p.Asp436MetfsTer?)
c.1198del (p.Asp400MetfsTer?)
c.1351del (p.Asp451MetfsTer?)
c.1303del (p.Asp435MetfsTer?)
c.1186del (p.Asp396MetfsTer?)
c.1168del (p.Asp390MetfsTer?)
 dbSNP
3g.69965020_69965021insACA2666480941MITFc.1287_1288insA (p.Asp430ArgfsTer15)
c.1284_1285insA (p.Asp429ArgfsTer15)
n.1509_1510insA
c.1260_1261insA (p.Asp421ArgfsTer15)
c.*98_*99insA (n.*98_*99insA)
c.1353_1354insA (p.Asp452ArgfsTer15)
c.1032_1033insA (p.Asp345ArgfsTer15)
c.1332_1333insA (p.Asp445ArgfsTer15)
c.1335_1336insA (p.Asp446ArgfsTer15)
c.1014_1015insA (p.Asp339ArgfsTer15)
c.1179_1180insA (p.Asp394ArgfsTer15)
c.*679_*680insA (n.*679_*680insA)
c.846_847insA (p.Asp283ArgfsTer15)
c.1305_1306insA (p.Asp436ArgfsTer15)
c.1197_1198insA (p.Asp400ArgfsTer15)
c.1350_1351insA (p.Asp451ArgfsTer15)
c.1302_1303insA (p.Asp435ArgfsTer15)
c.1185_1186insA (p.Asp396ArgfsTer15)
c.1167_1168insA (p.Asp390ArgfsTer15)
 gnomAD v4
3g.69965021G>ACA353559668MITFc.1288G>A (p.Asp430Asn)
c.1285G>A (p.Asp429Asn)
n.1510G>A
c.1261G>A (p.Asp421Asn)
c.*99G>A (n.*99G>A)
c.1354G>A (p.Asp452Asn)
c.1033G>A (p.Asp345Asn)
c.1333G>A (p.Asp445Asn)
c.1336G>A (p.Asp446Asn)
c.1015G>A (p.Asp339Asn)
c.1180G>A (p.Asp394Asn)
c.*680G>A (n.*680G>A)
c.847G>A (p.Asp283Asn)
c.1306G>A (p.Asp436Asn)
c.1198G>A (p.Asp400Asn)
c.1351G>A (p.Asp451Asn)
c.1303G>A (p.Asp435Asn)
c.1186G>A (p.Asp396Asn)
c.1168G>A (p.Asp390Asn)
 gnomAD v4
3g.69965021G>CCA353559669MITFc.1288G>C (p.Asp430His)
c.1285G>C (p.Asp429His)
n.1510G>C
c.1261G>C (p.Asp421His)
c.*99G>C (n.*99G>C)
c.1354G>C (p.Asp452His)
c.1033G>C (p.Asp345His)
c.1333G>C (p.Asp445His)
c.1336G>C (p.Asp446His)
c.1015G>C (p.Asp339His)
c.1180G>C (p.Asp394His)
c.*680G>C (n.*680G>C)
c.847G>C (p.Asp283His)
c.1306G>C (p.Asp436His)
c.1198G>C (p.Asp400His)
c.1351G>C (p.Asp451His)
c.1303G>C (p.Asp435His)
c.1186G>C (p.Asp396His)
c.1168G>C (p.Asp390His)
3g.69965021G>TCA353559670MITFc.1288G>T (p.Asp430Tyr)
c.1285G>T (p.Asp429Tyr)
n.1510G>T
c.1261G>T (p.Asp421Tyr)
c.*99G>T (n.*99G>T)
c.1354G>T (p.Asp452Tyr)
c.1033G>T (p.Asp345Tyr)
c.1333G>T (p.Asp445Tyr)
c.1336G>T (p.Asp446Tyr)
c.1015G>T (p.Asp339Tyr)
c.1180G>T (p.Asp394Tyr)
c.*680G>T (n.*680G>T)
c.847G>T (p.Asp283Tyr)
c.1306G>T (p.Asp436Tyr)
c.1198G>T (p.Asp400Tyr)
c.1351G>T (p.Asp451Tyr)
c.1303G>T (p.Asp435Tyr)
c.1186G>T (p.Asp396Tyr)
c.1168G>T (p.Asp390Tyr)
3g.69965021_69965029delCA645533383MITFc.1288_1296del (p.Asp430_Thr432del)
c.1285_1293del (p.Asp429_Thr431del)
n.1510_1518del
c.1261_1269del (p.Asp421_Thr423del)
c.*99_*107del (n.*99_*107del)
c.1354_1362del (p.Asp452_Thr454del)
c.1033_1041del (p.Asp345_Thr347del)
c.1333_1341del (p.Asp445_Thr447del)
c.1336_1344del (p.Asp446_Thr448del)
c.1015_1023del (p.Asp339_Thr341del)
c.1180_1188del (p.Asp394_Thr396del)
c.*680_*688del (n.*680_*688del)
c.847_855del (p.Asp283_Thr285del)
c.1306_1314del (p.Asp436_Thr438del)
c.1198_1206del (p.Asp400_Thr402del)
c.1351_1359del (p.Asp451_Thr453del)
c.1303_1311del (p.Asp435_Thr437del)
c.1186_1194del (p.Asp396_Thr398del)
c.1168_1176del (p.Asp390_Thr392del)
 COSMIC COSMIC
3g.69965022A=CA1373414195MITFc.1289A= (p.Asp430=)
c.1286A= (p.Asp429=)
n.1511A=
c.1262A= (p.Asp421=)
c.*100A= (n.*100A=)
c.1355A= (p.Asp452=)
c.1034A= (p.Asp345=)
c.1334A= (p.Asp445=)
c.1337A= (p.Asp446=)
c.1016A= (p.Asp339=)
c.1181A= (p.Asp394=)
c.*681A= (n.*681A=)
c.848A= (p.Asp283=)
c.1307A= (p.Asp436=)
c.1199A= (p.Asp400=)
c.1352A= (p.Asp451=)
c.1304A= (p.Asp435=)
c.1187A= (p.Asp396=)
c.1169A= (p.Asp390=)
3g.69965022A>CCA353559671MITFc.1289A>C (p.Asp430Ala)
c.1286A>C (p.Asp429Ala)
n.1511A>C
c.1262A>C (p.Asp421Ala)
c.*100A>C (n.*100A>C)
c.1355A>C (p.Asp452Ala)
c.1034A>C (p.Asp345Ala)
c.1334A>C (p.Asp445Ala)
c.1337A>C (p.Asp446Ala)
c.1016A>C (p.Asp339Ala)
c.1181A>C (p.Asp394Ala)
c.*681A>C (n.*681A>C)
c.848A>C (p.Asp283Ala)
c.1307A>C (p.Asp436Ala)
c.1199A>C (p.Asp400Ala)
c.1352A>C (p.Asp451Ala)
c.1304A>C (p.Asp435Ala)
c.1187A>C (p.Asp396Ala)
c.1169A>C (p.Asp390Ala)
3g.69965022A>GCA353559672MITFc.1289A>G (p.Asp430Gly)
c.1286A>G (p.Asp429Gly)
n.1511A>G
c.1262A>G (p.Asp421Gly)
c.*100A>G (n.*100A>G)
c.1355A>G (p.Asp452Gly)
c.1034A>G (p.Asp345Gly)
c.1334A>G (p.Asp445Gly)
c.1337A>G (p.Asp446Gly)
c.1016A>G (p.Asp339Gly)
c.1181A>G (p.Asp394Gly)
c.*681A>G (n.*681A>G)
c.848A>G (p.Asp283Gly)
c.1307A>G (p.Asp436Gly)
c.1199A>G (p.Asp400Gly)
c.1352A>G (p.Asp451Gly)
c.1304A>G (p.Asp435Gly)
c.1187A>G (p.Asp396Gly)
c.1169A>G (p.Asp390Gly)
 dbSNP gnomAD v4
3g.69965022A>TCA353559673MITFc.1289A>T (p.Asp430Val)
c.1286A>T (p.Asp429Val)
n.1511A>T
c.1262A>T (p.Asp421Val)
c.*100A>T (n.*100A>T)
c.1355A>T (p.Asp452Val)
c.1034A>T (p.Asp345Val)
c.1334A>T (p.Asp445Val)
c.1337A>T (p.Asp446Val)
c.1016A>T (p.Asp339Val)
c.1181A>T (p.Asp394Val)
c.*681A>T (n.*681A>T)
c.848A>T (p.Asp283Val)
c.1307A>T (p.Asp436Val)
c.1199A>T (p.Asp400Val)
c.1352A>T (p.Asp451Val)
c.1304A>T (p.Asp435Val)
c.1187A>T (p.Asp396Val)
c.1169A>T (p.Asp390Val)
3g.69965023T>ACA353559674MITFc.1290T>A (p.Asp430Glu)
c.1287T>A (p.Asp429Glu)
n.1512T>A
c.1263T>A (p.Asp421Glu)
c.*101T>A (n.*101T>A)
c.1356T>A (p.Asp452Glu)
c.1035T>A (p.Asp345Glu)
c.1335T>A (p.Asp445Glu)
c.1338T>A (p.Asp446Glu)
c.1017T>A (p.Asp339Glu)
c.1182T>A (p.Asp394Glu)
c.*682T>A (n.*682T>A)
c.849T>A (p.Asp283Glu)
c.1308T>A (p.Asp436Glu)
c.1200T>A (p.Asp400Glu)
c.1353T>A (p.Asp451Glu)
c.1305T>A (p.Asp435Glu)
c.1188T>A (p.Asp396Glu)
c.1170T>A (p.Asp390Glu)
3g.69965023T>CCA434433724MITFc.1290T>C (p.Asp430=)
c.1287T>C (p.Asp429=)
n.1512T>C
c.1263T>C (p.Asp421=)
c.*101T>C (n.*101T>C)
c.1356T>C (p.Asp452=)
c.1035T>C (p.Asp345=)
c.1335T>C (p.Asp445=)
c.1338T>C (p.Asp446=)
c.1017T>C (p.Asp339=)
c.1182T>C (p.Asp394=)
c.*682T>C (n.*682T>C)
c.849T>C (p.Asp283=)
c.1308T>C (p.Asp436=)
c.1200T>C (p.Asp400=)
c.1353T>C (p.Asp451=)
c.1305T>C (p.Asp435=)
c.1188T>C (p.Asp396=)
c.1170T>C (p.Asp390=)
3g.69965023T>GCA353559675MITFc.1290T>G (p.Asp430Glu)
c.1287T>G (p.Asp429Glu)
n.1512T>G
c.1263T>G (p.Asp421Glu)
c.*101T>G (n.*101T>G)
c.1356T>G (p.Asp452Glu)
c.1035T>G (p.Asp345Glu)
c.1335T>G (p.Asp445Glu)
c.1338T>G (p.Asp446Glu)
c.1017T>G (p.Asp339Glu)
c.1182T>G (p.Asp394Glu)
c.*682T>G (n.*682T>G)
c.849T>G (p.Asp283Glu)
c.1308T>G (p.Asp436Glu)
c.1200T>G (p.Asp400Glu)
c.1353T>G (p.Asp451Glu)
c.1305T>G (p.Asp435Glu)
c.1188T>G (p.Asp396Glu)
c.1170T>G (p.Asp390Glu)
3g.69965023_69965025delCA2666480942MITFc.1290_1292del (p.Gly431del)
c.1287_1289del (p.Gly430del)
n.1512_1514del
c.1263_1265del (p.Gly422del)
c.*101_*103del (n.*101_*103del)
c.1356_1358del (p.Gly453del)
c.1035_1037del (p.Gly346del)
c.1335_1337del (p.Gly446del)
c.1338_1340del (p.Gly447del)
c.1017_1019del (p.Gly340del)
c.1182_1184del (p.Gly395del)
c.*682_*684del (n.*682_*684del)
c.849_851del (p.Gly284del)
c.1308_1310del (p.Gly437del)
c.1200_1202del (p.Gly401del)
c.1353_1355del (p.Gly452del)
c.1305_1307del (p.Gly436del)
c.1188_1190del (p.Gly397del)
c.1170_1172del (p.Gly391del)
 gnomAD v4
3g.69965024G>ACA353559676MITFc.1291G>A (p.Gly431Ser)
c.1288G>A (p.Gly430Ser)
n.1513G>A
c.1264G>A (p.Gly422Ser)
c.*102G>A (n.*102G>A)
c.1357G>A (p.Gly453Ser)
c.1036G>A (p.Gly346Ser)
c.1336G>A (p.Gly446Ser)
c.1339G>A (p.Gly447Ser)
c.1018G>A (p.Gly340Ser)
c.1183G>A (p.Gly395Ser)
c.*683G>A (n.*683G>A)
c.850G>A (p.Gly284Ser)
c.1309G>A (p.Gly437Ser)
c.1201G>A (p.Gly401Ser)
c.1354G>A (p.Gly452Ser)
c.1306G>A (p.Gly436Ser)
c.1189G>A (p.Gly397Ser)
c.1171G>A (p.Gly391Ser)
3g.69965024G>CCA353559677MITFc.1291G>C (p.Gly431Arg)
c.1288G>C (p.Gly430Arg)
n.1513G>C
c.1264G>C (p.Gly422Arg)
c.*102G>C (n.*102G>C)
c.1357G>C (p.Gly453Arg)
c.1036G>C (p.Gly346Arg)
c.1336G>C (p.Gly446Arg)
c.1339G>C (p.Gly447Arg)
c.1018G>C (p.Gly340Arg)
c.1183G>C (p.Gly395Arg)
c.*683G>C (n.*683G>C)
c.850G>C (p.Gly284Arg)
c.1309G>C (p.Gly437Arg)
c.1201G>C (p.Gly401Arg)
c.1354G>C (p.Gly452Arg)
c.1306G>C (p.Gly436Arg)
c.1189G>C (p.Gly397Arg)
c.1171G>C (p.Gly391Arg)
3g.69965024G>TCA353559678MITFc.1291G>T (p.Gly431Cys)
c.1288G>T (p.Gly430Cys)
n.1513G>T
c.1264G>T (p.Gly422Cys)
c.*102G>T (n.*102G>T)
c.1357G>T (p.Gly453Cys)
c.1036G>T (p.Gly346Cys)
c.1336G>T (p.Gly446Cys)
c.1339G>T (p.Gly447Cys)
c.1018G>T (p.Gly340Cys)
c.1183G>T (p.Gly395Cys)
c.*683G>T (n.*683G>T)
c.850G>T (p.Gly284Cys)
c.1309G>T (p.Gly437Cys)
c.1201G>T (p.Gly401Cys)
c.1354G>T (p.Gly452Cys)
c.1306G>T (p.Gly436Cys)
c.1189G>T (p.Gly397Cys)
c.1171G>T (p.Gly391Cys)
3g.69965025G>ACA353559679MITFc.1292G>A (p.Gly431Asp)
c.1289G>A (p.Gly430Asp)
n.1514G>A
c.1265G>A (p.Gly422Asp)
c.*103G>A (n.*103G>A)
c.1358G>A (p.Gly453Asp)
c.1037G>A (p.Gly346Asp)
c.1337G>A (p.Gly446Asp)
c.1340G>A (p.Gly447Asp)
c.1019G>A (p.Gly340Asp)
c.1184G>A (p.Gly395Asp)
c.*684G>A (n.*684G>A)
c.851G>A (p.Gly284Asp)
c.1310G>A (p.Gly437Asp)
c.1202G>A (p.Gly401Asp)
c.1355G>A (p.Gly452Asp)
c.1307G>A (p.Gly436Asp)
c.1190G>A (p.Gly397Asp)
c.1172G>A (p.Gly391Asp)
 dbSNP gnomAD v4
3g.69965025G>CCA353559680MITFc.1292G>C (p.Gly431Ala)
c.1289G>C (p.Gly430Ala)
n.1514G>C
c.1265G>C (p.Gly422Ala)
c.*103G>C (n.*103G>C)
c.1358G>C (p.Gly453Ala)
c.1037G>C (p.Gly346Ala)
c.1337G>C (p.Gly446Ala)
c.1340G>C (p.Gly447Ala)
c.1019G>C (p.Gly340Ala)
c.1184G>C (p.Gly395Ala)
c.*684G>C (n.*684G>C)
c.851G>C (p.Gly284Ala)
c.1310G>C (p.Gly437Ala)
c.1202G>C (p.Gly401Ala)
c.1355G>C (p.Gly452Ala)
c.1307G>C (p.Gly436Ala)
c.1190G>C (p.Gly397Ala)
c.1172G>C (p.Gly391Ala)
 dbSNP gnomAD v4
3g.69965025G>TCA353559681MITFc.1292G>T (p.Gly431Val)
c.1289G>T (p.Gly430Val)
n.1514G>T
c.1265G>T (p.Gly422Val)
c.*103G>T (n.*103G>T)
c.1358G>T (p.Gly453Val)
c.1037G>T (p.Gly346Val)
c.1337G>T (p.Gly446Val)
c.1340G>T (p.Gly447Val)
c.1019G>T (p.Gly340Val)
c.1184G>T (p.Gly395Val)
c.*684G>T (n.*684G>T)
c.851G>T (p.Gly284Val)
c.1310G>T (p.Gly437Val)
c.1202G>T (p.Gly401Val)
c.1355G>T (p.Gly452Val)
c.1307G>T (p.Gly436Val)
c.1190G>T (p.Gly397Val)
c.1172G>T (p.Gly391Val)
3g.69965026C>ACA434433725MITFc.1293C>A (p.Gly431=)
c.1290C>A (p.Gly430=)
n.1515C>A
c.1266C>A (p.Gly422=)
c.*104C>A (n.*104C>A)
c.1359C>A (p.Gly453=)
c.1038C>A (p.Gly346=)
c.1338C>A (p.Gly446=)
c.1341C>A (p.Gly447=)
c.1020C>A (p.Gly340=)
c.1185C>A (p.Gly395=)
c.*685C>A (n.*685C>A)
c.852C>A (p.Gly284=)
c.1311C>A (p.Gly437=)
c.1203C>A (p.Gly401=)
c.1356C>A (p.Gly452=)
c.1308C>A (p.Gly436=)
c.1191C>A (p.Gly397=)
c.1173C>A (p.Gly391=)
3g.69965026C>GCA434433726MITFc.1293C>G (p.Gly431=)
c.1290C>G (p.Gly430=)
n.1515C>G
c.1266C>G (p.Gly422=)
c.*104C>G (n.*104C>G)
c.1359C>G (p.Gly453=)
c.1038C>G (p.Gly346=)
c.1338C>G (p.Gly446=)
c.1341C>G (p.Gly447=)
c.1020C>G (p.Gly340=)
c.1185C>G (p.Gly395=)
c.*685C>G (n.*685C>G)
c.852C>G (p.Gly284=)
c.1311C>G (p.Gly437=)
c.1203C>G (p.Gly401=)
c.1356C>G (p.Gly452=)
c.1308C>G (p.Gly436=)
c.1191C>G (p.Gly397=)
c.1173C>G (p.Gly391=)
3g.69965026C>TCA434433727MITFc.1293C>T (p.Gly431=)
c.1290C>T (p.Gly430=)
n.1515C>T
c.1266C>T (p.Gly422=)
c.*104C>T (n.*104C>T)
c.1359C>T (p.Gly453=)
c.1038C>T (p.Gly346=)
c.1338C>T (p.Gly446=)
c.1341C>T (p.Gly447=)
c.1020C>T (p.Gly340=)
c.1185C>T (p.Gly395=)
c.*685C>T (n.*685C>T)
c.852C>T (p.Gly284=)
c.1311C>T (p.Gly437=)
c.1203C>T (p.Gly401=)
c.1356C>T (p.Gly452=)
c.1308C>T (p.Gly436=)
c.1191C>T (p.Gly397=)
c.1173C>T (p.Gly391=)
 dbSNP
3g.69965027A=CA1373414198MITFc.1294A= (p.Thr432=)
c.1291A= (p.Thr431=)
n.1516A=
c.1267A= (p.Thr423=)
c.*105A= (n.*105A=)
c.1360A= (p.Thr454=)
c.1039A= (p.Thr347=)
c.1339A= (p.Thr447=)
c.1342A= (p.Thr448=)
c.1021A= (p.Thr341=)
c.1186A= (p.Thr396=)
c.*686A= (n.*686A=)
c.853A= (p.Thr285=)
c.1312A= (p.Thr438=)
c.1204A= (p.Thr402=)
c.1357A= (p.Thr453=)
c.1309A= (p.Thr437=)
c.1192A= (p.Thr398=)
c.1174A= (p.Thr392=)
3g.69965027A>CCA353559682MITFc.1294A>C (p.Thr432Pro)
c.1291A>C (p.Thr431Pro)
n.1516A>C
c.1267A>C (p.Thr423Pro)
c.*105A>C (n.*105A>C)
c.1360A>C (p.Thr454Pro)
c.1039A>C (p.Thr347Pro)
c.1339A>C (p.Thr447Pro)
c.1342A>C (p.Thr448Pro)
c.1021A>C (p.Thr341Pro)
c.1186A>C (p.Thr396Pro)
c.*686A>C (n.*686A>C)
c.853A>C (p.Thr285Pro)
c.1312A>C (p.Thr438Pro)
c.1204A>C (p.Thr402Pro)
c.1357A>C (p.Thr453Pro)
c.1309A>C (p.Thr437Pro)
c.1192A>C (p.Thr398Pro)
c.1174A>C (p.Thr392Pro)
3g.69965027A>GCA77003524MITFc.1294A>G (p.Thr432Ala)
c.1291A>G (p.Thr431Ala)
n.1516A>G
c.1267A>G (p.Thr423Ala)
c.*105A>G (n.*105A>G)
c.1360A>G (p.Thr454Ala)
c.1039A>G (p.Thr347Ala)
c.1339A>G (p.Thr447Ala)
c.1342A>G (p.Thr448Ala)
c.1021A>G (p.Thr341Ala)
c.1186A>G (p.Thr396Ala)
c.*686A>G (n.*686A>G)
c.853A>G (p.Thr285Ala)
c.1312A>G (p.Thr438Ala)
c.1204A>G (p.Thr402Ala)
c.1357A>G (p.Thr453Ala)
c.1309A>G (p.Thr437Ala)
c.1192A>G (p.Thr398Ala)
c.1174A>G (p.Thr392Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965027A>TCA353559683MITFc.1294A>T (p.Thr432Ser)
c.1291A>T (p.Thr431Ser)
n.1516A>T
c.1267A>T (p.Thr423Ser)
c.*105A>T (n.*105A>T)
c.1360A>T (p.Thr454Ser)
c.1039A>T (p.Thr347Ser)
c.1339A>T (p.Thr447Ser)
c.1342A>T (p.Thr448Ser)
c.1021A>T (p.Thr341Ser)
c.1186A>T (p.Thr396Ser)
c.*686A>T (n.*686A>T)
c.853A>T (p.Thr285Ser)
c.1312A>T (p.Thr438Ser)
c.1204A>T (p.Thr402Ser)
c.1357A>T (p.Thr453Ser)
c.1309A>T (p.Thr437Ser)
c.1192A>T (p.Thr398Ser)
c.1174A>T (p.Thr392Ser)
3g.69965027dupCA2666480943MITFc.1294dup (p.Thr432AsnfsTer13)
c.1291dup (p.Thr431AsnfsTer13)
n.1516dup
c.1267dup (p.Thr423AsnfsTer13)
c.*105dup (n.*105dup)
c.1360dup (p.Thr454AsnfsTer13)
c.1039dup (p.Thr347AsnfsTer13)
c.1339dup (p.Thr447AsnfsTer13)
c.1342dup (p.Thr448AsnfsTer13)
c.1021dup (p.Thr341AsnfsTer13)
c.1186dup (p.Thr396AsnfsTer13)
c.*686dup (n.*686dup)
c.853dup (p.Thr285AsnfsTer13)
c.1312dup (p.Thr438AsnfsTer13)
c.1204dup (p.Thr402AsnfsTer13)
c.1357dup (p.Thr453AsnfsTer13)
c.1309dup (p.Thr437AsnfsTer13)
c.1192dup (p.Thr398AsnfsTer13)
c.1174dup (p.Thr392AsnfsTer13)
 gnomAD v4
3g.69965028C>ACA353559684MITFc.1295C>A (p.Thr432Asn)
c.1292C>A (p.Thr431Asn)
n.1517C>A
c.1268C>A (p.Thr423Asn)
c.*106C>A (n.*106C>A)
c.1361C>A (p.Thr454Asn)
c.1040C>A (p.Thr347Asn)
c.1340C>A (p.Thr447Asn)
c.1343C>A (p.Thr448Asn)
c.1022C>A (p.Thr341Asn)
c.1187C>A (p.Thr396Asn)
c.*687C>A (n.*687C>A)
c.854C>A (p.Thr285Asn)
c.1313C>A (p.Thr438Asn)
c.1205C>A (p.Thr402Asn)
c.1358C>A (p.Thr453Asn)
c.1310C>A (p.Thr437Asn)
c.1193C>A (p.Thr398Asn)
c.1175C>A (p.Thr392Asn)
3g.69965028C>GCA353559685MITFc.1295C>G (p.Thr432Ser)
c.1292C>G (p.Thr431Ser)
n.1517C>G
c.1268C>G (p.Thr423Ser)
c.*106C>G (n.*106C>G)
c.1361C>G (p.Thr454Ser)
c.1040C>G (p.Thr347Ser)
c.1340C>G (p.Thr447Ser)
c.1343C>G (p.Thr448Ser)
c.1022C>G (p.Thr341Ser)
c.1187C>G (p.Thr396Ser)
c.*687C>G (n.*687C>G)
c.854C>G (p.Thr285Ser)
c.1313C>G (p.Thr438Ser)
c.1205C>G (p.Thr402Ser)
c.1358C>G (p.Thr453Ser)
c.1310C>G (p.Thr437Ser)
c.1193C>G (p.Thr398Ser)
c.1175C>G (p.Thr392Ser)
3g.69965028C>TCA353559686MITFc.1295C>T (p.Thr432Ile)
c.1292C>T (p.Thr431Ile)
n.1517C>T
c.1268C>T (p.Thr423Ile)
c.*106C>T (n.*106C>T)
c.1361C>T (p.Thr454Ile)
c.1040C>T (p.Thr347Ile)
c.1340C>T (p.Thr447Ile)
c.1343C>T (p.Thr448Ile)
c.1022C>T (p.Thr341Ile)
c.1187C>T (p.Thr396Ile)
c.*687C>T (n.*687C>T)
c.854C>T (p.Thr285Ile)
c.1313C>T (p.Thr438Ile)
c.1205C>T (p.Thr402Ile)
c.1358C>T (p.Thr453Ile)
c.1310C>T (p.Thr437Ile)
c.1193C>T (p.Thr398Ile)
c.1175C>T (p.Thr392Ile)
 ClinVar dbSNP
3g.69965029C>ACA434433729MITFc.1296C>A (p.Thr432=)
c.1293C>A (p.Thr431=)
n.1518C>A
c.1269C>A (p.Thr423=)
c.*107C>A (n.*107C>A)
c.1362C>A (p.Thr454=)
c.1041C>A (p.Thr347=)
c.1341C>A (p.Thr447=)
c.1344C>A (p.Thr448=)
c.1023C>A (p.Thr341=)
c.1188C>A (p.Thr396=)
c.*688C>A (n.*688C>A)
c.855C>A (p.Thr285=)
c.1314C>A (p.Thr438=)
c.1206C>A (p.Thr402=)
c.1359C>A (p.Thr453=)
c.1311C>A (p.Thr437=)
c.1194C>A (p.Thr398=)
c.1176C>A (p.Thr392=)
 dbSNP
3g.69965029C=CA1373414202MITFc.1296C= (p.Thr432=)
c.1293C= (p.Thr431=)
n.1518C=
c.1269C= (p.Thr423=)
c.*107C= (n.*107C=)
c.1362C= (p.Thr454=)
c.1041C= (p.Thr347=)
c.1341C= (p.Thr447=)
c.1344C= (p.Thr448=)
c.1023C= (p.Thr341=)
c.1188C= (p.Thr396=)
c.*688C= (n.*688C=)
c.855C= (p.Thr285=)
c.1314C= (p.Thr438=)
c.1206C= (p.Thr402=)
c.1359C= (p.Thr453=)
c.1311C= (p.Thr437=)
c.1194C= (p.Thr398=)
c.1176C= (p.Thr392=)
3g.69965029C>GCA77003525MITFc.1296C>G (p.Thr432=)
c.1293C>G (p.Thr431=)
n.1518C>G
c.1269C>G (p.Thr423=)
c.*107C>G (n.*107C>G)
c.1362C>G (p.Thr454=)
c.1041C>G (p.Thr347=)
c.1341C>G (p.Thr447=)
c.1344C>G (p.Thr448=)
c.1023C>G (p.Thr341=)
c.1188C>G (p.Thr396=)
c.*688C>G (n.*688C>G)
c.855C>G (p.Thr285=)
c.1314C>G (p.Thr438=)
c.1206C>G (p.Thr402=)
c.1359C>G (p.Thr453=)
c.1311C>G (p.Thr437=)
c.1194C>G (p.Thr398=)
c.1176C>G (p.Thr392=)
 dbSNP gnomAD v4
3g.69965029C>TCA434433730MITFc.1296C>T (p.Thr432=)
c.1293C>T (p.Thr431=)
n.1518C>T
c.1269C>T (p.Thr423=)
c.*107C>T (n.*107C>T)
c.1362C>T (p.Thr454=)
c.1041C>T (p.Thr347=)
c.1341C>T (p.Thr447=)
c.1344C>T (p.Thr448=)
c.1023C>T (p.Thr341=)
c.1188C>T (p.Thr396=)
c.*688C>T (n.*688C>T)
c.855C>T (p.Thr285=)
c.1314C>T (p.Thr438=)
c.1206C>T (p.Thr402=)
c.1359C>T (p.Thr453=)
c.1311C>T (p.Thr437=)
c.1194C>T (p.Thr398=)
c.1176C>T (p.Thr392=)
3g.69965030A=CA1373414206MITFc.1297A= (p.Ile433=)
c.1294A= (p.Ile432=)
n.1519A=
c.1270A= (p.Ile424=)
c.*108A= (n.*108A=)
c.1363A= (p.Ile455=)
c.1042A= (p.Ile348=)
c.1342A= (p.Ile448=)
c.1345A= (p.Ile449=)
c.1024A= (p.Ile342=)
c.1189A= (p.Ile397=)
c.*689A= (n.*689A=)
c.856A= (p.Ile286=)
c.1315A= (p.Ile439=)
c.1207A= (p.Ile403=)
c.1360A= (p.Ile454=)
c.1312A= (p.Ile438=)
c.1195A= (p.Ile399=)
c.1177A= (p.Ile393=)
3g.69965030A>CCA353559689MITFc.1297A>C (p.Ile433Leu)
c.1294A>C (p.Ile432Leu)
n.1519A>C
c.1270A>C (p.Ile424Leu)
c.*108A>C (n.*108A>C)
c.1363A>C (p.Ile455Leu)
c.1042A>C (p.Ile348Leu)
c.1342A>C (p.Ile448Leu)
c.1345A>C (p.Ile449Leu)
c.1024A>C (p.Ile342Leu)
c.1189A>C (p.Ile397Leu)
c.*689A>C (n.*689A>C)
c.856A>C (p.Ile286Leu)
c.1315A>C (p.Ile439Leu)
c.1207A>C (p.Ile403Leu)
c.1360A>C (p.Ile454Leu)
c.1312A>C (p.Ile438Leu)
c.1195A>C (p.Ile399Leu)
c.1177A>C (p.Ile393Leu)
3g.69965030A>GCA353559687MITFc.1297A>G (p.Ile433Val)
c.1294A>G (p.Ile432Val)
n.1519A>G
c.1270A>G (p.Ile424Val)
c.*108A>G (n.*108A>G)
c.1363A>G (p.Ile455Val)
c.1042A>G (p.Ile348Val)
c.1342A>G (p.Ile448Val)
c.1345A>G (p.Ile449Val)
c.1024A>G (p.Ile342Val)
c.1189A>G (p.Ile397Val)
c.*689A>G (n.*689A>G)
c.856A>G (p.Ile286Val)
c.1315A>G (p.Ile439Val)
c.1207A>G (p.Ile403Val)
c.1360A>G (p.Ile454Val)
c.1312A>G (p.Ile438Val)
c.1195A>G (p.Ile399Val)
c.1177A>G (p.Ile393Val)
 gnomAD v4
3g.69965030A>TCA353559688MITFc.1297A>T (p.Ile433Phe)
c.1294A>T (p.Ile432Phe)
n.1519A>T
c.1270A>T (p.Ile424Phe)
c.*108A>T (n.*108A>T)
c.1363A>T (p.Ile455Phe)
c.1042A>T (p.Ile348Phe)
c.1342A>T (p.Ile448Phe)
c.1345A>T (p.Ile449Phe)
c.1024A>T (p.Ile342Phe)
c.1189A>T (p.Ile397Phe)
c.*689A>T (n.*689A>T)
c.856A>T (p.Ile286Phe)
c.1315A>T (p.Ile439Phe)
c.1207A>T (p.Ile403Phe)
c.1360A>T (p.Ile454Phe)
c.1312A>T (p.Ile438Phe)
c.1195A>T (p.Ile399Phe)
c.1177A>T (p.Ile393Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.69965031T>ACA353559690MITFc.1298T>A (p.Ile433Asn)
c.1295T>A (p.Ile432Asn)
n.1520T>A
c.1271T>A (p.Ile424Asn)
c.*109T>A (n.*109T>A)
c.1364T>A (p.Ile455Asn)
c.1043T>A (p.Ile348Asn)
c.1343T>A (p.Ile448Asn)
c.1346T>A (p.Ile449Asn)
c.1025T>A (p.Ile342Asn)
c.1190T>A (p.Ile397Asn)
c.*690T>A (n.*690T>A)
c.857T>A (p.Ile286Asn)
c.1316T>A (p.Ile439Asn)
c.1208T>A (p.Ile403Asn)
c.1361T>A (p.Ile454Asn)
c.1313T>A (p.Ile438Asn)
c.1196T>A (p.Ile399Asn)
c.1178T>A (p.Ile393Asn)
 gnomAD v4
3g.69965031T>CCA353559691MITFc.1298T>C (p.Ile433Thr)
c.1295T>C (p.Ile432Thr)
n.1520T>C
c.1271T>C (p.Ile424Thr)
c.*109T>C (n.*109T>C)
c.1364T>C (p.Ile455Thr)
c.1043T>C (p.Ile348Thr)
c.1343T>C (p.Ile448Thr)
c.1346T>C (p.Ile449Thr)
c.1025T>C (p.Ile342Thr)
c.1190T>C (p.Ile397Thr)
c.*690T>C (n.*690T>C)
c.857T>C (p.Ile286Thr)
c.1316T>C (p.Ile439Thr)
c.1208T>C (p.Ile403Thr)
c.1361T>C (p.Ile454Thr)
c.1313T>C (p.Ile438Thr)
c.1196T>C (p.Ile399Thr)
c.1178T>C (p.Ile393Thr)
3g.69965031T>GCA353559692MITFc.1298T>G (p.Ile433Ser)
c.1295T>G (p.Ile432Ser)
n.1520T>G
c.1271T>G (p.Ile424Ser)
c.*109T>G (n.*109T>G)
c.1364T>G (p.Ile455Ser)
c.1043T>G (p.Ile348Ser)
c.1343T>G (p.Ile448Ser)
c.1346T>G (p.Ile449Ser)
c.1025T>G (p.Ile342Ser)
c.1190T>G (p.Ile397Ser)
c.*690T>G (n.*690T>G)
c.857T>G (p.Ile286Ser)
c.1316T>G (p.Ile439Ser)
c.1208T>G (p.Ile403Ser)
c.1361T>G (p.Ile454Ser)
c.1313T>G (p.Ile438Ser)
c.1196T>G (p.Ile399Ser)
c.1178T>G (p.Ile393Ser)
3g.69965032C>ACA434433731MITFc.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=)
3g.69965032C=CA1373414208MITFc.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=)
3g.69965032C>GCA353559693MITFc.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
3g.69965032C>TCA434433732MITFc.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=)
3g.69965033A=CA1373414217MITFc.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=)
3g.69965033A>CCA353559694MITFc.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
3g.69965033A>GCA353559695MITFc.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)
3g.69965033A>TCA353559696MITFc.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)
3g.69965034C>ACA353559697MITFc.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)
3g.69965034C>GCA353559698MITFc.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)
3g.69965034C>TCA353559699MITFc.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)
3g.69965035C>ACA434433735MITFc.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=)
3g.69965035C=CA1373414219MITFc.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=)
3g.69965035C>GCA434433736MITFc.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=)
3g.69965035C>TCA434433737MITFc.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
3g.69965036T>ACA353559702MITFc.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
3g.69965036T>CCA353559701MITFc.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)
3g.69965036T>GCA353559700MITFc.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)
3g.69965037T>ACA353559703MITFc.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)
3g.69965037T>CCA2490649MITFc.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
3g.69965037T>GCA353559704MITFc.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)
3g.69965037T=CA1373414223MITFc.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=)
3g.69965038C>ACA353559705MITFc.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)
3g.69965038C>GCA353559706MITFc.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)
3g.69965038C>TCA434433739MITFc.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=)
3g.69965039A>CCA353559707MITFc.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)
3g.69965039A>GCA353559708MITFc.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
3g.69965039A>TCA353559709MITFc.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)
3g.69965040A=CA1373414226MITFc.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=)
3g.69965040A>CCA353559710MITFc.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)
3g.69965040A>GCA353559711MITFc.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
3g.69965040A>TCA353559712MITFc.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)

Number of alleles fetched