UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69964894C>A | CA434433390 | MITF | c.1161C>A (p.Ser387=) c.1158C>A (p.Ser386=) n.1383C>A c.1134C>A (p.Ser378=) c.1114-20C>A (n.1114-20C>A) c.1227C>A (p.Ser409=) c.906C>A (p.Ser302=) c.1206C>A (p.Ser402=) c.1209C>A (p.Ser403=) c.888C>A (p.Ser296=) c.1053C>A (p.Ser351=) c.*553C>A (n.*553C>A) c.720C>A (p.Ser240=) c.1179C>A (p.Ser393=) c.1071C>A (p.Ser357=) c.1224C>A (p.Ser408=) c.1176C>A (p.Ser392=) c.1059C>A (p.Ser353=) c.1041C>A (p.Ser347=) | |
| 3 | g.69964894C>G | CA434433391 | MITF | c.1161C>G (p.Ser387=) c.1158C>G (p.Ser386=) n.1383C>G c.1134C>G (p.Ser378=) c.1114-20C>G (n.1114-20C>G) c.1227C>G (p.Ser409=) c.906C>G (p.Ser302=) c.1206C>G (p.Ser402=) c.1209C>G (p.Ser403=) c.888C>G (p.Ser296=) c.1053C>G (p.Ser351=) c.*553C>G (n.*553C>G) c.720C>G (p.Ser240=) c.1179C>G (p.Ser393=) c.1071C>G (p.Ser357=) c.1224C>G (p.Ser408=) c.1176C>G (p.Ser392=) c.1059C>G (p.Ser353=) c.1041C>G (p.Ser347=) | |
| 3 | g.69964894C>T | CA434433392 | MITF | c.1161C>T (p.Ser387=) c.1158C>T (p.Ser386=) n.1383C>T c.1134C>T (p.Ser378=) c.1114-20C>T (n.1114-20C>T) c.1227C>T (p.Ser409=) c.906C>T (p.Ser302=) c.1206C>T (p.Ser402=) c.1209C>T (p.Ser403=) c.888C>T (p.Ser296=) c.1053C>T (p.Ser351=) c.*553C>T (n.*553C>T) c.720C>T (p.Ser240=) c.1179C>T (p.Ser393=) c.1071C>T (p.Ser357=) c.1224C>T (p.Ser408=) c.1176C>T (p.Ser392=) c.1059C>T (p.Ser353=) c.1041C>T (p.Ser347=) | dbSNP |
| 3 | g.69964895A>C | CA353559401 | MITF | c.1162A>C (p.Thr388Pro) c.1159A>C (p.Thr387Pro) n.1384A>C c.1135A>C (p.Thr379Pro) c.1114-19A>C (n.1114-19A>C) c.1228A>C (p.Thr410Pro) c.907A>C (p.Thr303Pro) c.1207A>C (p.Thr403Pro) c.1210A>C (p.Thr404Pro) c.889A>C (p.Thr297Pro) c.1054A>C (p.Thr352Pro) c.*554A>C (n.*554A>C) c.721A>C (p.Thr241Pro) c.1180A>C (p.Thr394Pro) c.1072A>C (p.Thr358Pro) c.1225A>C (p.Thr409Pro) c.1177A>C (p.Thr393Pro) c.1060A>C (p.Thr354Pro) c.1042A>C (p.Thr348Pro) | |
| 3 | g.69964895A>G | CA353559402 | MITF | c.1162A>G (p.Thr388Ala) c.1159A>G (p.Thr387Ala) n.1384A>G c.1135A>G (p.Thr379Ala) c.1114-19A>G (n.1114-19A>G) c.1228A>G (p.Thr410Ala) c.907A>G (p.Thr303Ala) c.1207A>G (p.Thr403Ala) c.1210A>G (p.Thr404Ala) c.889A>G (p.Thr297Ala) c.1054A>G (p.Thr352Ala) c.*554A>G (n.*554A>G) c.721A>G (p.Thr241Ala) c.1180A>G (p.Thr394Ala) c.1072A>G (p.Thr358Ala) c.1225A>G (p.Thr409Ala) c.1177A>G (p.Thr393Ala) c.1060A>G (p.Thr354Ala) c.1042A>G (p.Thr348Ala) | ClinVar |
| 3 | g.69964895A>T | CA353559403 | MITF | c.1162A>T (p.Thr388Ser) c.1159A>T (p.Thr387Ser) n.1384A>T c.1135A>T (p.Thr379Ser) c.1114-19A>T (n.1114-19A>T) c.1228A>T (p.Thr410Ser) c.907A>T (p.Thr303Ser) c.1207A>T (p.Thr403Ser) c.1210A>T (p.Thr404Ser) c.889A>T (p.Thr297Ser) c.1054A>T (p.Thr352Ser) c.*554A>T (n.*554A>T) c.721A>T (p.Thr241Ser) c.1180A>T (p.Thr394Ser) c.1072A>T (p.Thr358Ser) c.1225A>T (p.Thr409Ser) c.1177A>T (p.Thr393Ser) c.1060A>T (p.Thr354Ser) c.1042A>T (p.Thr348Ser) | |
| 3 | g.69964896C>A | CA353559404 | MITF | c.1163C>A (p.Thr388Lys) c.1160C>A (p.Thr387Lys) n.1385C>A c.1136C>A (p.Thr379Lys) c.1114-18C>A (n.1114-18C>A) c.1229C>A (p.Thr410Lys) c.908C>A (p.Thr303Lys) c.1208C>A (p.Thr403Lys) c.1211C>A (p.Thr404Lys) c.890C>A (p.Thr297Lys) c.1055C>A (p.Thr352Lys) c.*555C>A (n.*555C>A) c.722C>A (p.Thr241Lys) c.1181C>A (p.Thr394Lys) c.1073C>A (p.Thr358Lys) c.1226C>A (p.Thr409Lys) c.1178C>A (p.Thr393Lys) c.1061C>A (p.Thr354Lys) c.1043C>A (p.Thr348Lys) | |
| 3 | g.69964896C= | CA1373413930 | MITF | c.1163C= (p.Thr388=) c.1160C= (p.Thr387=) n.1385C= c.1136C= (p.Thr379=) c.1114-18C= (n.1114-18C=) c.1229C= (p.Thr410=) c.908C= (p.Thr303=) c.1208C= (p.Thr403=) c.1211C= (p.Thr404=) c.890C= (p.Thr297=) c.1055C= (p.Thr352=) c.*555C= (n.*555C=) c.722C= (p.Thr241=) c.1181C= (p.Thr394=) c.1073C= (p.Thr358=) c.1226C= (p.Thr409=) c.1178C= (p.Thr393=) c.1061C= (p.Thr354=) c.1043C= (p.Thr348=) | |
| 3 | g.69964896C>G | CA353559405 | MITF | c.1163C>G (p.Thr388Arg) c.1160C>G (p.Thr387Arg) n.1385C>G c.1136C>G (p.Thr379Arg) c.1114-18C>G (n.1114-18C>G) c.1229C>G (p.Thr410Arg) c.908C>G (p.Thr303Arg) c.1208C>G (p.Thr403Arg) c.1211C>G (p.Thr404Arg) c.890C>G (p.Thr297Arg) c.1055C>G (p.Thr352Arg) c.*555C>G (n.*555C>G) c.722C>G (p.Thr241Arg) c.1181C>G (p.Thr394Arg) c.1073C>G (p.Thr358Arg) c.1226C>G (p.Thr409Arg) c.1178C>G (p.Thr393Arg) c.1061C>G (p.Thr354Arg) c.1043C>G (p.Thr348Arg) | |
| 3 | g.69964896C>T | CA2490628 | MITF | c.1163C>T (p.Thr388Met) c.1160C>T (p.Thr387Met) n.1385C>T c.1136C>T (p.Thr379Met) c.1114-18C>T (n.1114-18C>T) c.1229C>T (p.Thr410Met) c.908C>T (p.Thr303Met) c.1208C>T (p.Thr403Met) c.1211C>T (p.Thr404Met) c.890C>T (p.Thr297Met) c.1055C>T (p.Thr352Met) c.*555C>T (n.*555C>T) c.722C>T (p.Thr241Met) c.1181C>T (p.Thr394Met) c.1073C>T (p.Thr358Met) c.1226C>T (p.Thr409Met) c.1178C>T (p.Thr393Met) c.1061C>T (p.Thr354Met) c.1043C>T (p.Thr348Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964897G>A | CA16604634 | MITF | c.1164G>A (p.Thr388=) c.1161G>A (p.Thr387=) n.1386G>A c.1137G>A (p.Thr379=) c.1114-17G>A (n.1114-17G>A) c.1230G>A (p.Thr410=) c.909G>A (p.Thr303=) c.1209G>A (p.Thr403=) c.1212G>A (p.Thr404=) c.891G>A (p.Thr297=) c.1056G>A (p.Thr352=) c.*556G>A (n.*556G>A) c.723G>A (p.Thr241=) c.1182G>A (p.Thr394=) c.1074G>A (p.Thr358=) c.1227G>A (p.Thr409=) c.1179G>A (p.Thr393=) c.1062G>A (p.Thr354=) c.1044G>A (p.Thr348=) | ClinVar dbSNP |
| 3 | g.69964897G>C | CA434433396 | MITF | c.1164G>C (p.Thr388=) c.1161G>C (p.Thr387=) n.1386G>C c.1137G>C (p.Thr379=) c.1114-17G>C (n.1114-17G>C) c.1230G>C (p.Thr410=) c.909G>C (p.Thr303=) c.1209G>C (p.Thr403=) c.1212G>C (p.Thr404=) c.891G>C (p.Thr297=) c.1056G>C (p.Thr352=) c.*556G>C (n.*556G>C) c.723G>C (p.Thr241=) c.1182G>C (p.Thr394=) c.1074G>C (p.Thr358=) c.1227G>C (p.Thr409=) c.1179G>C (p.Thr393=) c.1062G>C (p.Thr354=) c.1044G>C (p.Thr348=) | dbSNP |
| 3 | g.69964897G= | CA1373413938 | MITF | c.1164G= (p.Thr388=) c.1161G= (p.Thr387=) n.1386G= c.1137G= (p.Thr379=) c.1114-17G= (n.1114-17G=) c.1230G= (p.Thr410=) c.909G= (p.Thr303=) c.1209G= (p.Thr403=) c.1212G= (p.Thr404=) c.891G= (p.Thr297=) c.1056G= (p.Thr352=) c.*556G= (n.*556G=) c.723G= (p.Thr241=) c.1182G= (p.Thr394=) c.1074G= (p.Thr358=) c.1227G= (p.Thr409=) c.1179G= (p.Thr393=) c.1062G= (p.Thr354=) c.1044G= (p.Thr348=) | |
| 3 | g.69964897G>T | CA434433397 | MITF | c.1164G>T (p.Thr388=) c.1161G>T (p.Thr387=) n.1386G>T c.1137G>T (p.Thr379=) c.1114-17G>T (n.1114-17G>T) c.1230G>T (p.Thr410=) c.909G>T (p.Thr303=) c.1209G>T (p.Thr403=) c.1212G>T (p.Thr404=) c.891G>T (p.Thr297=) c.1056G>T (p.Thr352=) c.*556G>T (n.*556G>T) c.723G>T (p.Thr241=) c.1182G>T (p.Thr394=) c.1074G>T (p.Thr358=) c.1227G>T (p.Thr409=) c.1179G>T (p.Thr393=) c.1062G>T (p.Thr354=) c.1044G>T (p.Thr348=) | |
| 3 | g.69964898G>A | CA353559408 | MITF | c.1165G>A (p.Gly389Ser) c.1162G>A (p.Gly388Ser) n.1387G>A c.1138G>A (p.Gly380Ser) c.1114-16G>A (n.1114-16G>A) c.1231G>A (p.Gly411Ser) c.910G>A (p.Gly304Ser) c.1210G>A (p.Gly404Ser) c.1213G>A (p.Gly405Ser) c.892G>A (p.Gly298Ser) c.1057G>A (p.Gly353Ser) c.*557G>A (n.*557G>A) c.724G>A (p.Gly242Ser) c.1183G>A (p.Gly395Ser) c.1075G>A (p.Gly359Ser) c.1228G>A (p.Gly410Ser) c.1180G>A (p.Gly394Ser) c.1063G>A (p.Gly355Ser) c.1045G>A (p.Gly349Ser) | |
| 3 | g.69964898G>C | CA353559406 | MITF | c.1165G>C (p.Gly389Arg) c.1162G>C (p.Gly388Arg) n.1387G>C c.1138G>C (p.Gly380Arg) c.1114-16G>C (n.1114-16G>C) c.1231G>C (p.Gly411Arg) c.910G>C (p.Gly304Arg) c.1210G>C (p.Gly404Arg) c.1213G>C (p.Gly405Arg) c.892G>C (p.Gly298Arg) c.1057G>C (p.Gly353Arg) c.*557G>C (n.*557G>C) c.724G>C (p.Gly242Arg) c.1183G>C (p.Gly395Arg) c.1075G>C (p.Gly359Arg) c.1228G>C (p.Gly410Arg) c.1180G>C (p.Gly394Arg) c.1063G>C (p.Gly355Arg) c.1045G>C (p.Gly349Arg) | dbSNP |
| 3 | g.69964898G>T | CA353559407 | MITF | c.1165G>T (p.Gly389Cys) c.1162G>T (p.Gly388Cys) n.1387G>T c.1138G>T (p.Gly380Cys) c.1114-16G>T (n.1114-16G>T) c.1231G>T (p.Gly411Cys) c.910G>T (p.Gly304Cys) c.1210G>T (p.Gly404Cys) c.1213G>T (p.Gly405Cys) c.892G>T (p.Gly298Cys) c.1057G>T (p.Gly353Cys) c.*557G>T (n.*557G>T) c.724G>T (p.Gly242Cys) c.1183G>T (p.Gly395Cys) c.1075G>T (p.Gly359Cys) c.1228G>T (p.Gly410Cys) c.1180G>T (p.Gly394Cys) c.1063G>T (p.Gly355Cys) c.1045G>T (p.Gly349Cys) | gnomAD v4 |
| 3 | g.69964899G>A | CA353559409 | MITF | c.1166G>A (p.Gly389Asp) c.1163G>A (p.Gly388Asp) n.1388G>A c.1139G>A (p.Gly380Asp) c.1114-15G>A (n.1114-15G>A) c.1232G>A (p.Gly411Asp) c.911G>A (p.Gly304Asp) c.1211G>A (p.Gly404Asp) c.1214G>A (p.Gly405Asp) c.893G>A (p.Gly298Asp) c.1058G>A (p.Gly353Asp) c.*558G>A (n.*558G>A) c.725G>A (p.Gly242Asp) c.1184G>A (p.Gly395Asp) c.1076G>A (p.Gly359Asp) c.1229G>A (p.Gly410Asp) c.1181G>A (p.Gly394Asp) c.1064G>A (p.Gly355Asp) c.1046G>A (p.Gly349Asp) | dbSNP gnomAD v4 |
| 3 | g.69964899G>C | CA353559410 | MITF | c.1166G>C (p.Gly389Ala) c.1163G>C (p.Gly388Ala) n.1388G>C c.1139G>C (p.Gly380Ala) c.1114-15G>C (n.1114-15G>C) c.1232G>C (p.Gly411Ala) c.911G>C (p.Gly304Ala) c.1211G>C (p.Gly404Ala) c.1214G>C (p.Gly405Ala) c.893G>C (p.Gly298Ala) c.1058G>C (p.Gly353Ala) c.*558G>C (n.*558G>C) c.725G>C (p.Gly242Ala) c.1184G>C (p.Gly395Ala) c.1076G>C (p.Gly359Ala) c.1229G>C (p.Gly410Ala) c.1181G>C (p.Gly394Ala) c.1064G>C (p.Gly355Ala) c.1046G>C (p.Gly349Ala) | |
| 3 | g.69964899G>T | CA353559411 | MITF | c.1166G>T (p.Gly389Val) c.1163G>T (p.Gly388Val) n.1388G>T c.1139G>T (p.Gly380Val) c.1114-15G>T (n.1114-15G>T) c.1232G>T (p.Gly411Val) c.911G>T (p.Gly304Val) c.1211G>T (p.Gly404Val) c.1214G>T (p.Gly405Val) c.893G>T (p.Gly298Val) c.1058G>T (p.Gly353Val) c.*558G>T (n.*558G>T) c.725G>T (p.Gly242Val) c.1184G>T (p.Gly395Val) c.1076G>T (p.Gly359Val) c.1229G>T (p.Gly410Val) c.1181G>T (p.Gly394Val) c.1064G>T (p.Gly355Val) c.1046G>T (p.Gly349Val) | ClinVar |
| 3 | g.69964900T>A | CA434433398 | MITF | c.1167T>A (p.Gly389=) c.1164T>A (p.Gly388=) n.1389T>A c.1140T>A (p.Gly380=) c.1114-14T>A (n.1114-14T>A) c.1233T>A (p.Gly411=) c.912T>A (p.Gly304=) c.1212T>A (p.Gly404=) c.1215T>A (p.Gly405=) c.894T>A (p.Gly298=) c.1059T>A (p.Gly353=) c.*559T>A (n.*559T>A) c.726T>A (p.Gly242=) c.1185T>A (p.Gly395=) c.1077T>A (p.Gly359=) c.1230T>A (p.Gly410=) c.1182T>A (p.Gly394=) c.1065T>A (p.Gly355=) c.1047T>A (p.Gly349=) | dbSNP |
| 3 | g.69964900T>C | CA434433399 | MITF | c.1167T>C (p.Gly389=) c.1164T>C (p.Gly388=) n.1389T>C c.1140T>C (p.Gly380=) c.1114-14T>C (n.1114-14T>C) c.1233T>C (p.Gly411=) c.912T>C (p.Gly304=) c.1212T>C (p.Gly404=) c.1215T>C (p.Gly405=) c.894T>C (p.Gly298=) c.1059T>C (p.Gly353=) c.*559T>C (n.*559T>C) c.726T>C (p.Gly242=) c.1185T>C (p.Gly395=) c.1077T>C (p.Gly359=) c.1230T>C (p.Gly410=) c.1182T>C (p.Gly394=) c.1065T>C (p.Gly355=) c.1047T>C (p.Gly349=) | |
| 3 | g.69964900T>G | CA434433400 | MITF | c.1167T>G (p.Gly389=) c.1164T>G (p.Gly388=) n.1389T>G c.1140T>G (p.Gly380=) c.1114-14T>G (n.1114-14T>G) c.1233T>G (p.Gly411=) c.912T>G (p.Gly304=) c.1212T>G (p.Gly404=) c.1215T>G (p.Gly405=) c.894T>G (p.Gly298=) c.1059T>G (p.Gly353=) c.*559T>G (n.*559T>G) c.726T>G (p.Gly242=) c.1185T>G (p.Gly395=) c.1077T>G (p.Gly359=) c.1230T>G (p.Gly410=) c.1182T>G (p.Gly394=) c.1065T>G (p.Gly355=) c.1047T>G (p.Gly349=) | dbSNP |
| 3 | g.69964900T= | CA1373413942 | MITF | c.1167T= (p.Gly389=) c.1164T= (p.Gly388=) n.1389T= c.1140T= (p.Gly380=) c.1114-14T= (n.1114-14T=) c.1233T= (p.Gly411=) c.912T= (p.Gly304=) c.1212T= (p.Gly404=) c.1215T= (p.Gly405=) c.894T= (p.Gly298=) c.1059T= (p.Gly353=) c.*559T= (n.*559T=) c.726T= (p.Gly242=) c.1185T= (p.Gly395=) c.1077T= (p.Gly359=) c.1230T= (p.Gly410=) c.1182T= (p.Gly394=) c.1065T= (p.Gly355=) c.1047T= (p.Gly349=) | |
| 3 | g.69964901C>A | CA353559412 | MITF | c.1168C>A (p.Leu390Ile) c.1165C>A (p.Leu389Ile) n.1390C>A c.1141C>A (p.Leu381Ile) c.1114-13C>A (n.1114-13C>A) c.1234C>A (p.Leu412Ile) c.913C>A (p.Leu305Ile) c.1213C>A (p.Leu405Ile) c.1216C>A (p.Leu406Ile) c.895C>A (p.Leu299Ile) c.1060C>A (p.Leu354Ile) c.*560C>A (n.*560C>A) c.727C>A (p.Leu243Ile) c.1186C>A (p.Leu396Ile) c.1078C>A (p.Leu360Ile) c.1231C>A (p.Leu411Ile) c.1183C>A (p.Leu395Ile) c.1066C>A (p.Leu356Ile) c.1048C>A (p.Leu350Ile) | |
| 3 | g.69964901C>G | CA353559413 | MITF | c.1168C>G (p.Leu390Val) c.1165C>G (p.Leu389Val) n.1390C>G c.1141C>G (p.Leu381Val) c.1114-13C>G (n.1114-13C>G) c.1234C>G (p.Leu412Val) c.913C>G (p.Leu305Val) c.1213C>G (p.Leu405Val) c.1216C>G (p.Leu406Val) c.895C>G (p.Leu299Val) c.1060C>G (p.Leu354Val) c.*560C>G (n.*560C>G) c.727C>G (p.Leu243Val) c.1186C>G (p.Leu396Val) c.1078C>G (p.Leu360Val) c.1231C>G (p.Leu411Val) c.1183C>G (p.Leu395Val) c.1066C>G (p.Leu356Val) c.1048C>G (p.Leu350Val) | |
| 3 | g.69964901C>T | CA353559414 | MITF | c.1168C>T (p.Leu390Phe) c.1165C>T (p.Leu389Phe) n.1390C>T c.1141C>T (p.Leu381Phe) c.1114-13C>T (n.1114-13C>T) c.1234C>T (p.Leu412Phe) c.913C>T (p.Leu305Phe) c.1213C>T (p.Leu405Phe) c.1216C>T (p.Leu406Phe) c.895C>T (p.Leu299Phe) c.1060C>T (p.Leu354Phe) c.*560C>T (n.*560C>T) c.727C>T (p.Leu243Phe) c.1186C>T (p.Leu396Phe) c.1078C>T (p.Leu360Phe) c.1231C>T (p.Leu411Phe) c.1183C>T (p.Leu395Phe) c.1066C>T (p.Leu356Phe) c.1048C>T (p.Leu350Phe) | |
| 3 | g.69964902T>A | CA353559415 | MITF | c.1169T>A (p.Leu390His) c.1166T>A (p.Leu389His) n.1391T>A c.1142T>A (p.Leu381His) c.1114-12T>A (n.1114-12T>A) c.1235T>A (p.Leu412His) c.914T>A (p.Leu305His) c.1214T>A (p.Leu405His) c.1217T>A (p.Leu406His) c.896T>A (p.Leu299His) c.1061T>A (p.Leu354His) c.*561T>A (n.*561T>A) c.728T>A (p.Leu243His) c.1187T>A (p.Leu396His) c.1079T>A (p.Leu360His) c.1232T>A (p.Leu411His) c.1184T>A (p.Leu395His) c.1067T>A (p.Leu356His) c.1049T>A (p.Leu350His) | |
| 3 | g.69964902T>C | CA353559416 | MITF | c.1169T>C (p.Leu390Pro) c.1166T>C (p.Leu389Pro) n.1391T>C c.1142T>C (p.Leu381Pro) c.1114-12T>C (n.1114-12T>C) c.1235T>C (p.Leu412Pro) c.914T>C (p.Leu305Pro) c.1214T>C (p.Leu405Pro) c.1217T>C (p.Leu406Pro) c.896T>C (p.Leu299Pro) c.1061T>C (p.Leu354Pro) c.*561T>C (n.*561T>C) c.728T>C (p.Leu243Pro) c.1187T>C (p.Leu396Pro) c.1079T>C (p.Leu360Pro) c.1232T>C (p.Leu411Pro) c.1184T>C (p.Leu395Pro) c.1067T>C (p.Leu356Pro) c.1049T>C (p.Leu350Pro) | |
| 3 | g.69964902T>G | CA353559417 | MITF | c.1169T>G (p.Leu390Arg) c.1166T>G (p.Leu389Arg) n.1391T>G c.1142T>G (p.Leu381Arg) c.1114-12T>G (n.1114-12T>G) c.1235T>G (p.Leu412Arg) c.914T>G (p.Leu305Arg) c.1214T>G (p.Leu405Arg) c.1217T>G (p.Leu406Arg) c.896T>G (p.Leu299Arg) c.1061T>G (p.Leu354Arg) c.*561T>G (n.*561T>G) c.728T>G (p.Leu243Arg) c.1187T>G (p.Leu396Arg) c.1079T>G (p.Leu360Arg) c.1232T>G (p.Leu411Arg) c.1184T>G (p.Leu395Arg) c.1067T>G (p.Leu356Arg) c.1049T>G (p.Leu350Arg) | |
| 3 | g.69964903C>A | CA434433406 | MITF | c.1170C>A (p.Leu390=) c.1167C>A (p.Leu389=) n.1392C>A c.1143C>A (p.Leu381=) c.1114-11C>A (n.1114-11C>A) c.1236C>A (p.Leu412=) c.915C>A (p.Leu305=) c.1215C>A (p.Leu405=) c.1218C>A (p.Leu406=) c.897C>A (p.Leu299=) c.1062C>A (p.Leu354=) c.*562C>A (n.*562C>A) c.729C>A (p.Leu243=) c.1188C>A (p.Leu396=) c.1080C>A (p.Leu360=) c.1233C>A (p.Leu411=) c.1185C>A (p.Leu395=) c.1068C>A (p.Leu356=) c.1050C>A (p.Leu350=) | |
| 3 | g.69964903C>G | CA434433404 | MITF | c.1170C>G (p.Leu390=) c.1167C>G (p.Leu389=) n.1392C>G c.1143C>G (p.Leu381=) c.1114-11C>G (n.1114-11C>G) c.1236C>G (p.Leu412=) c.915C>G (p.Leu305=) c.1215C>G (p.Leu405=) c.1218C>G (p.Leu406=) c.897C>G (p.Leu299=) c.1062C>G (p.Leu354=) c.*562C>G (n.*562C>G) c.729C>G (p.Leu243=) c.1188C>G (p.Leu396=) c.1080C>G (p.Leu360=) c.1233C>G (p.Leu411=) c.1185C>G (p.Leu395=) c.1068C>G (p.Leu356=) c.1050C>G (p.Leu350=) | gnomAD v4 |
| 3 | g.69964903C>T | CA434433402 | MITF | c.1170C>T (p.Leu390=) c.1167C>T (p.Leu389=) n.1392C>T c.1143C>T (p.Leu381=) c.1114-11C>T (n.1114-11C>T) c.1236C>T (p.Leu412=) c.915C>T (p.Leu305=) c.1215C>T (p.Leu405=) c.1218C>T (p.Leu406=) c.897C>T (p.Leu299=) c.1062C>T (p.Leu354=) c.*562C>T (n.*562C>T) c.729C>T (p.Leu243=) c.1188C>T (p.Leu396=) c.1080C>T (p.Leu360=) c.1233C>T (p.Leu411=) c.1185C>T (p.Leu395=) c.1068C>T (p.Leu356=) c.1050C>T (p.Leu350=) | |
| 3 | g.69964904T>A | CA353559418 | MITF | c.1171T>A (p.Cys391Ser) c.1168T>A (p.Cys390Ser) n.1393T>A c.1144T>A (p.Cys382Ser) c.1114-10T>A (n.1114-10T>A) c.1237T>A (p.Cys413Ser) c.916T>A (p.Cys306Ser) c.1216T>A (p.Cys406Ser) c.1219T>A (p.Cys407Ser) c.898T>A (p.Cys300Ser) c.1063T>A (p.Cys355Ser) c.*563T>A (n.*563T>A) c.730T>A (p.Cys244Ser) c.1189T>A (p.Cys397Ser) c.1081T>A (p.Cys361Ser) c.1234T>A (p.Cys412Ser) c.1186T>A (p.Cys396Ser) c.1069T>A (p.Cys357Ser) c.1051T>A (p.Cys351Ser) | ClinVar dbSNP |
| 3 | g.69964904T>C | CA353559419 | MITF | c.1171T>C (p.Cys391Arg) c.1168T>C (p.Cys390Arg) n.1393T>C c.1144T>C (p.Cys382Arg) c.1114-10T>C (n.1114-10T>C) c.1237T>C (p.Cys413Arg) c.916T>C (p.Cys306Arg) c.1216T>C (p.Cys406Arg) c.1219T>C (p.Cys407Arg) c.898T>C (p.Cys300Arg) c.1063T>C (p.Cys355Arg) c.*563T>C (n.*563T>C) c.730T>C (p.Cys244Arg) c.1189T>C (p.Cys397Arg) c.1081T>C (p.Cys361Arg) c.1234T>C (p.Cys412Arg) c.1186T>C (p.Cys396Arg) c.1069T>C (p.Cys357Arg) c.1051T>C (p.Cys351Arg) | |
| 3 | g.69964904T>G | CA353559420 | MITF | c.1171T>G (p.Cys391Gly) c.1168T>G (p.Cys390Gly) n.1393T>G c.1144T>G (p.Cys382Gly) c.1114-10T>G (n.1114-10T>G) c.1237T>G (p.Cys413Gly) c.916T>G (p.Cys306Gly) c.1216T>G (p.Cys406Gly) c.1219T>G (p.Cys407Gly) c.898T>G (p.Cys300Gly) c.1063T>G (p.Cys355Gly) c.*563T>G (n.*563T>G) c.730T>G (p.Cys244Gly) c.1189T>G (p.Cys397Gly) c.1081T>G (p.Cys361Gly) c.1234T>G (p.Cys412Gly) c.1186T>G (p.Cys396Gly) c.1069T>G (p.Cys357Gly) c.1051T>G (p.Cys351Gly) | |
| 3 | g.69964904T= | CA1373413946 | MITF | c.1171T= (p.Cys391=) c.1168T= (p.Cys390=) n.1393T= c.1144T= (p.Cys382=) c.1114-10T= (n.1114-10T=) c.1237T= (p.Cys413=) c.916T= (p.Cys306=) c.1216T= (p.Cys406=) c.1219T= (p.Cys407=) c.898T= (p.Cys300=) c.1063T= (p.Cys355=) c.*563T= (n.*563T=) c.730T= (p.Cys244=) c.1189T= (p.Cys397=) c.1081T= (p.Cys361=) c.1234T= (p.Cys412=) c.1186T= (p.Cys396=) c.1069T= (p.Cys357=) c.1051T= (p.Cys351=) | |
| 3 | g.69964905G>A | CA353559422 | MITF | c.1172G>A (p.Cys391Tyr) c.1169G>A (p.Cys390Tyr) n.1394G>A c.1145G>A (p.Cys382Tyr) c.1114-9G>A (n.1114-9G>A) c.1238G>A (p.Cys413Tyr) c.917G>A (p.Cys306Tyr) c.1217G>A (p.Cys406Tyr) c.1220G>A (p.Cys407Tyr) c.899G>A (p.Cys300Tyr) c.1064G>A (p.Cys355Tyr) c.*564G>A (n.*564G>A) c.731G>A (p.Cys244Tyr) c.1190G>A (p.Cys397Tyr) c.1082G>A (p.Cys361Tyr) c.1235G>A (p.Cys412Tyr) c.1187G>A (p.Cys396Tyr) c.1070G>A (p.Cys357Tyr) c.1052G>A (p.Cys351Tyr) | |
| 3 | g.69964905G>C | CA353559423 | MITF | c.1172G>C (p.Cys391Ser) c.1169G>C (p.Cys390Ser) n.1394G>C c.1145G>C (p.Cys382Ser) c.1114-9G>C (n.1114-9G>C) c.1238G>C (p.Cys413Ser) c.917G>C (p.Cys306Ser) c.1217G>C (p.Cys406Ser) c.1220G>C (p.Cys407Ser) c.899G>C (p.Cys300Ser) c.1064G>C (p.Cys355Ser) c.*564G>C (n.*564G>C) c.731G>C (p.Cys244Ser) c.1190G>C (p.Cys397Ser) c.1082G>C (p.Cys361Ser) c.1235G>C (p.Cys412Ser) c.1187G>C (p.Cys396Ser) c.1070G>C (p.Cys357Ser) c.1052G>C (p.Cys351Ser) | |
| 3 | g.69964905G>T | CA353559421 | MITF | c.1172G>T (p.Cys391Phe) c.1169G>T (p.Cys390Phe) n.1394G>T c.1145G>T (p.Cys382Phe) c.1114-9G>T (n.1114-9G>T) c.1238G>T (p.Cys413Phe) c.917G>T (p.Cys306Phe) c.1217G>T (p.Cys406Phe) c.1220G>T (p.Cys407Phe) c.899G>T (p.Cys300Phe) c.1064G>T (p.Cys355Phe) c.*564G>T (n.*564G>T) c.731G>T (p.Cys244Phe) c.1190G>T (p.Cys397Phe) c.1082G>T (p.Cys361Phe) c.1235G>T (p.Cys412Phe) c.1187G>T (p.Cys396Phe) c.1070G>T (p.Cys357Phe) c.1052G>T (p.Cys351Phe) | |
| 3 | g.69964906C>A | CA353559425 | MITF | c.1173C>A (p.Cys391Ter) c.1170C>A (p.Cys390Ter) n.1395C>A c.1146C>A (p.Cys382Ter) c.1114-8C>A (n.1114-8C>A) c.1239C>A (p.Cys413Ter) c.918C>A (p.Cys306Ter) c.1218C>A (p.Cys406Ter) c.1221C>A (p.Cys407Ter) c.900C>A (p.Cys300Ter) c.1065C>A (p.Cys355Ter) c.*565C>A (n.*565C>A) c.732C>A (p.Cys244Ter) c.1191C>A (p.Cys397Ter) c.1083C>A (p.Cys361Ter) c.1236C>A (p.Cys412Ter) c.1188C>A (p.Cys396Ter) c.1071C>A (p.Cys357Ter) c.1053C>A (p.Cys351Ter) | |
| 3 | g.69964906C>G | CA353559424 | MITF | c.1173C>G (p.Cys391Trp) c.1170C>G (p.Cys390Trp) n.1395C>G c.1146C>G (p.Cys382Trp) c.1114-8C>G (n.1114-8C>G) c.1239C>G (p.Cys413Trp) c.918C>G (p.Cys306Trp) c.1218C>G (p.Cys406Trp) c.1221C>G (p.Cys407Trp) c.900C>G (p.Cys300Trp) c.1065C>G (p.Cys355Trp) c.*565C>G (n.*565C>G) c.732C>G (p.Cys244Trp) c.1191C>G (p.Cys397Trp) c.1083C>G (p.Cys361Trp) c.1236C>G (p.Cys412Trp) c.1188C>G (p.Cys396Trp) c.1071C>G (p.Cys357Trp) c.1053C>G (p.Cys351Trp) | |
| 3 | g.69964906C>T | CA434433409 | MITF | c.1173C>T (p.Cys391=) c.1170C>T (p.Cys390=) n.1395C>T c.1146C>T (p.Cys382=) c.1114-8C>T (n.1114-8C>T) c.1239C>T (p.Cys413=) c.918C>T (p.Cys306=) c.1218C>T (p.Cys406=) c.1221C>T (p.Cys407=) c.900C>T (p.Cys300=) c.1065C>T (p.Cys355=) c.*565C>T (n.*565C>T) c.732C>T (p.Cys244=) c.1191C>T (p.Cys397=) c.1083C>T (p.Cys361=) c.1236C>T (p.Cys412=) c.1188C>T (p.Cys396=) c.1071C>T (p.Cys357=) c.1053C>T (p.Cys351=) | |
| 3 | g.69964907T>A | CA353559426 | MITF | c.1174T>A (p.Ser392Thr) c.1171T>A (p.Ser391Thr) n.1396T>A c.1147T>A (p.Ser383Thr) c.1114-7T>A (n.1114-7T>A) c.1240T>A (p.Ser414Thr) c.919T>A (p.Ser307Thr) c.1219T>A (p.Ser407Thr) c.1222T>A (p.Ser408Thr) c.901T>A (p.Ser301Thr) c.1066T>A (p.Ser356Thr) c.*566T>A (n.*566T>A) c.733T>A (p.Ser245Thr) c.1192T>A (p.Ser398Thr) c.1084T>A (p.Ser362Thr) c.1237T>A (p.Ser413Thr) c.1189T>A (p.Ser397Thr) c.1072T>A (p.Ser358Thr) c.1054T>A (p.Ser352Thr) | |
| 3 | g.69964907T>C | CA353559427 | MITF | c.1174T>C (p.Ser392Pro) c.1171T>C (p.Ser391Pro) n.1396T>C c.1147T>C (p.Ser383Pro) c.1114-7T>C (n.1114-7T>C) c.1240T>C (p.Ser414Pro) c.919T>C (p.Ser307Pro) c.1219T>C (p.Ser407Pro) c.1222T>C (p.Ser408Pro) c.901T>C (p.Ser301Pro) c.1066T>C (p.Ser356Pro) c.*566T>C (n.*566T>C) c.733T>C (p.Ser245Pro) c.1192T>C (p.Ser398Pro) c.1084T>C (p.Ser362Pro) c.1237T>C (p.Ser413Pro) c.1189T>C (p.Ser397Pro) c.1072T>C (p.Ser358Pro) c.1054T>C (p.Ser352Pro) | |
| 3 | g.69964907T>G | CA353559428 | MITF | c.1174T>G (p.Ser392Ala) c.1171T>G (p.Ser391Ala) n.1396T>G c.1147T>G (p.Ser383Ala) c.1114-7T>G (n.1114-7T>G) c.1240T>G (p.Ser414Ala) c.919T>G (p.Ser307Ala) c.1219T>G (p.Ser407Ala) c.1222T>G (p.Ser408Ala) c.901T>G (p.Ser301Ala) c.1066T>G (p.Ser356Ala) c.*566T>G (n.*566T>G) c.733T>G (p.Ser245Ala) c.1192T>G (p.Ser398Ala) c.1084T>G (p.Ser362Ala) c.1237T>G (p.Ser413Ala) c.1189T>G (p.Ser397Ala) c.1072T>G (p.Ser358Ala) c.1054T>G (p.Ser352Ala) | |
| 3 | g.69964908C>A | CA353559429 | MITF | c.1175C>A (p.Ser392Tyr) c.1172C>A (p.Ser391Tyr) n.1397C>A c.1148C>A (p.Ser383Tyr) c.1114-6C>A (n.1114-6C>A) c.1241C>A (p.Ser414Tyr) c.920C>A (p.Ser307Tyr) c.1220C>A (p.Ser407Tyr) c.1223C>A (p.Ser408Tyr) c.902C>A (p.Ser301Tyr) c.1067C>A (p.Ser356Tyr) c.*567C>A (n.*567C>A) c.734C>A (p.Ser245Tyr) c.1193C>A (p.Ser398Tyr) c.1085C>A (p.Ser362Tyr) c.1238C>A (p.Ser413Tyr) c.1190C>A (p.Ser397Tyr) c.1073C>A (p.Ser358Tyr) c.1055C>A (p.Ser352Tyr) | ClinVar |
| 3 | g.69964908C= | CA1373413950 | MITF | c.1175C= (p.Ser392=) c.1172C= (p.Ser391=) n.1397C= c.1148C= (p.Ser383=) c.1114-6C= (n.1114-6C=) c.1241C= (p.Ser414=) c.920C= (p.Ser307=) c.1220C= (p.Ser407=) c.1223C= (p.Ser408=) c.902C= (p.Ser301=) c.1067C= (p.Ser356=) c.*567C= (n.*567C=) c.734C= (p.Ser245=) c.1193C= (p.Ser398=) c.1085C= (p.Ser362=) c.1238C= (p.Ser413=) c.1190C= (p.Ser397=) c.1073C= (p.Ser358=) c.1055C= (p.Ser352=) | |
| 3 | g.69964908C>G | CA353559430 | MITF | c.1175C>G (p.Ser392Cys) c.1172C>G (p.Ser391Cys) n.1397C>G c.1148C>G (p.Ser383Cys) c.1114-6C>G (n.1114-6C>G) c.1241C>G (p.Ser414Cys) c.920C>G (p.Ser307Cys) c.1220C>G (p.Ser407Cys) c.1223C>G (p.Ser408Cys) c.902C>G (p.Ser301Cys) c.1067C>G (p.Ser356Cys) c.*567C>G (n.*567C>G) c.734C>G (p.Ser245Cys) c.1193C>G (p.Ser398Cys) c.1085C>G (p.Ser362Cys) c.1238C>G (p.Ser413Cys) c.1190C>G (p.Ser397Cys) c.1073C>G (p.Ser358Cys) c.1055C>G (p.Ser352Cys) | dbSNP gnomAD v4 |
| 3 | g.69964908C>T | CA353559431 | MITF | c.1175C>T (p.Ser392Phe) c.1172C>T (p.Ser391Phe) n.1397C>T c.1148C>T (p.Ser383Phe) c.1114-6C>T (n.1114-6C>T) c.1241C>T (p.Ser414Phe) c.920C>T (p.Ser307Phe) c.1220C>T (p.Ser407Phe) c.1223C>T (p.Ser408Phe) c.902C>T (p.Ser301Phe) c.1067C>T (p.Ser356Phe) c.*567C>T (n.*567C>T) c.734C>T (p.Ser245Phe) c.1193C>T (p.Ser398Phe) c.1085C>T (p.Ser362Phe) c.1238C>T (p.Ser413Phe) c.1190C>T (p.Ser397Phe) c.1073C>T (p.Ser358Phe) c.1055C>T (p.Ser352Phe) |