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.69964887T>A | CA353559386 | MITF | c.1154T>A (p.Ile385Asn) c.1151T>A (p.Ile384Asn) n.1376T>A c.1127T>A (p.Ile376Asn) c.1114-27T>A (n.1114-27T>A) c.1220T>A (p.Ile407Asn) c.899T>A (p.Ile300Asn) c.1199T>A (p.Ile400Asn) c.1202T>A (p.Ile401Asn) c.881T>A (p.Ile294Asn) c.1046T>A (p.Ile349Asn) c.*546T>A (n.*546T>A) c.713T>A (p.Ile238Asn) c.1172T>A (p.Ile391Asn) c.1064T>A (p.Ile355Asn) c.1217T>A (p.Ile406Asn) c.1169T>A (p.Ile390Asn) c.1052T>A (p.Ile351Asn) c.1034T>A (p.Ile345Asn) | |
| 3 | g.69964887T>C | CA353559387 | MITF | c.1154T>C (p.Ile385Thr) c.1151T>C (p.Ile384Thr) n.1376T>C c.1127T>C (p.Ile376Thr) c.1114-27T>C (n.1114-27T>C) c.1220T>C (p.Ile407Thr) c.899T>C (p.Ile300Thr) c.1199T>C (p.Ile400Thr) c.1202T>C (p.Ile401Thr) c.881T>C (p.Ile294Thr) c.1046T>C (p.Ile349Thr) c.*546T>C (n.*546T>C) c.713T>C (p.Ile238Thr) c.1172T>C (p.Ile391Thr) c.1064T>C (p.Ile355Thr) c.1217T>C (p.Ile406Thr) c.1169T>C (p.Ile390Thr) c.1052T>C (p.Ile351Thr) c.1034T>C (p.Ile345Thr) | |
| 3 | g.69964887T>G | CA353559388 | MITF | c.1154T>G (p.Ile385Ser) c.1151T>G (p.Ile384Ser) n.1376T>G c.1127T>G (p.Ile376Ser) c.1114-27T>G (n.1114-27T>G) c.1220T>G (p.Ile407Ser) c.899T>G (p.Ile300Ser) c.1199T>G (p.Ile400Ser) c.1202T>G (p.Ile401Ser) c.881T>G (p.Ile294Ser) c.1046T>G (p.Ile349Ser) c.*546T>G (n.*546T>G) c.713T>G (p.Ile238Ser) c.1172T>G (p.Ile391Ser) c.1064T>G (p.Ile355Ser) c.1217T>G (p.Ile406Ser) c.1169T>G (p.Ile390Ser) c.1052T>G (p.Ile351Ser) c.1034T>G (p.Ile345Ser) | |
| 3 | g.69964888T>A | CA434433385 | MITF | c.1155T>A (p.Ile385=) c.1152T>A (p.Ile384=) n.1377T>A c.1128T>A (p.Ile376=) c.1114-26T>A (n.1114-26T>A) c.1221T>A (p.Ile407=) c.900T>A (p.Ile300=) c.1200T>A (p.Ile400=) c.1203T>A (p.Ile401=) c.882T>A (p.Ile294=) c.1047T>A (p.Ile349=) c.*547T>A (n.*547T>A) c.714T>A (p.Ile238=) c.1173T>A (p.Ile391=) c.1065T>A (p.Ile355=) c.1218T>A (p.Ile406=) c.1170T>A (p.Ile390=) c.1053T>A (p.Ile351=) c.1035T>A (p.Ile345=) | |
| 3 | g.69964888T>C | CA434433386 | MITF | c.1155T>C (p.Ile385=) c.1152T>C (p.Ile384=) n.1377T>C c.1128T>C (p.Ile376=) c.1114-26T>C (n.1114-26T>C) c.1221T>C (p.Ile407=) c.900T>C (p.Ile300=) c.1200T>C (p.Ile400=) c.1203T>C (p.Ile401=) c.882T>C (p.Ile294=) c.1047T>C (p.Ile349=) c.*547T>C (n.*547T>C) c.714T>C (p.Ile238=) c.1173T>C (p.Ile391=) c.1065T>C (p.Ile355=) c.1218T>C (p.Ile406=) c.1170T>C (p.Ile390=) c.1053T>C (p.Ile351=) c.1035T>C (p.Ile345=) | |
| 3 | g.69964888T>G | CA353559389 | MITF | c.1155T>G (p.Ile385Met) c.1152T>G (p.Ile384Met) n.1377T>G c.1128T>G (p.Ile376Met) c.1114-26T>G (n.1114-26T>G) c.1221T>G (p.Ile407Met) c.900T>G (p.Ile300Met) c.1200T>G (p.Ile400Met) c.1203T>G (p.Ile401Met) c.882T>G (p.Ile294Met) c.1047T>G (p.Ile349Met) c.*547T>G (n.*547T>G) c.714T>G (p.Ile238Met) c.1173T>G (p.Ile391Met) c.1065T>G (p.Ile355Met) c.1218T>G (p.Ile406Met) c.1170T>G (p.Ile390Met) c.1053T>G (p.Ile351Met) c.1035T>G (p.Ile345Met) | |
| 3 | g.69964889C>A | CA353559390 | MITF | c.1156C>A (p.Pro386Thr) c.1153C>A (p.Pro385Thr) n.1378C>A c.1129C>A (p.Pro377Thr) c.1114-25C>A (n.1114-25C>A) c.1222C>A (p.Pro408Thr) c.901C>A (p.Pro301Thr) c.1201C>A (p.Pro401Thr) c.1204C>A (p.Pro402Thr) c.883C>A (p.Pro295Thr) c.1048C>A (p.Pro350Thr) c.*548C>A (n.*548C>A) c.715C>A (p.Pro239Thr) c.1174C>A (p.Pro392Thr) c.1066C>A (p.Pro356Thr) c.1219C>A (p.Pro407Thr) c.1171C>A (p.Pro391Thr) c.1054C>A (p.Pro352Thr) c.1036C>A (p.Pro346Thr) | |
| 3 | g.69964889C= | CA1373413914 | MITF | c.1156C= (p.Pro386=) c.1153C= (p.Pro385=) n.1378C= c.1129C= (p.Pro377=) c.1114-25C= (n.1114-25C=) c.1222C= (p.Pro408=) c.901C= (p.Pro301=) c.1201C= (p.Pro401=) c.1204C= (p.Pro402=) c.883C= (p.Pro295=) c.1048C= (p.Pro350=) c.*548C= (n.*548C=) c.715C= (p.Pro239=) c.1174C= (p.Pro392=) c.1066C= (p.Pro356=) c.1219C= (p.Pro407=) c.1171C= (p.Pro391=) c.1054C= (p.Pro352=) c.1036C= (p.Pro346=) | |
| 3 | g.69964889C>G | CA2490626 | MITF | c.1156C>G (p.Pro386Ala) c.1153C>G (p.Pro385Ala) n.1378C>G c.1129C>G (p.Pro377Ala) c.1114-25C>G (n.1114-25C>G) c.1222C>G (p.Pro408Ala) c.901C>G (p.Pro301Ala) c.1201C>G (p.Pro401Ala) c.1204C>G (p.Pro402Ala) c.883C>G (p.Pro295Ala) c.1048C>G (p.Pro350Ala) c.*548C>G (n.*548C>G) c.715C>G (p.Pro239Ala) c.1174C>G (p.Pro392Ala) c.1066C>G (p.Pro356Ala) c.1219C>G (p.Pro407Ala) c.1171C>G (p.Pro391Ala) c.1054C>G (p.Pro352Ala) c.1036C>G (p.Pro346Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964889C>T | CA353559391 | MITF | c.1156C>T (p.Pro386Ser) c.1153C>T (p.Pro385Ser) n.1378C>T c.1129C>T (p.Pro377Ser) c.1114-25C>T (n.1114-25C>T) c.1222C>T (p.Pro408Ser) c.901C>T (p.Pro301Ser) c.1201C>T (p.Pro401Ser) c.1204C>T (p.Pro402Ser) c.883C>T (p.Pro295Ser) c.1048C>T (p.Pro350Ser) c.*548C>T (n.*548C>T) c.715C>T (p.Pro239Ser) c.1174C>T (p.Pro392Ser) c.1066C>T (p.Pro356Ser) c.1219C>T (p.Pro407Ser) c.1171C>T (p.Pro391Ser) c.1054C>T (p.Pro352Ser) c.1036C>T (p.Pro346Ser) | |
| 3 | g.69964890C>A | CA353559394 | MITF | c.1157C>A (p.Pro386Gln) c.1154C>A (p.Pro385Gln) n.1379C>A c.1130C>A (p.Pro377Gln) c.1114-24C>A (n.1114-24C>A) c.1223C>A (p.Pro408Gln) c.902C>A (p.Pro301Gln) c.1202C>A (p.Pro401Gln) c.1205C>A (p.Pro402Gln) c.884C>A (p.Pro295Gln) c.1049C>A (p.Pro350Gln) c.*549C>A (n.*549C>A) c.716C>A (p.Pro239Gln) c.1175C>A (p.Pro392Gln) c.1067C>A (p.Pro356Gln) c.1220C>A (p.Pro407Gln) c.1172C>A (p.Pro391Gln) c.1055C>A (p.Pro352Gln) c.1037C>A (p.Pro346Gln) | |
| 3 | g.69964890C>G | CA353559393 | MITF | c.1157C>G (p.Pro386Arg) c.1154C>G (p.Pro385Arg) n.1379C>G c.1130C>G (p.Pro377Arg) c.1114-24C>G (n.1114-24C>G) c.1223C>G (p.Pro408Arg) c.902C>G (p.Pro301Arg) c.1202C>G (p.Pro401Arg) c.1205C>G (p.Pro402Arg) c.884C>G (p.Pro295Arg) c.1049C>G (p.Pro350Arg) c.*549C>G (n.*549C>G) c.716C>G (p.Pro239Arg) c.1175C>G (p.Pro392Arg) c.1067C>G (p.Pro356Arg) c.1220C>G (p.Pro407Arg) c.1172C>G (p.Pro391Arg) c.1055C>G (p.Pro352Arg) c.1037C>G (p.Pro346Arg) | |
| 3 | g.69964890C>T | CA353559392 | MITF | c.1157C>T (p.Pro386Leu) c.1154C>T (p.Pro385Leu) n.1379C>T c.1130C>T (p.Pro377Leu) c.1114-24C>T (n.1114-24C>T) c.1223C>T (p.Pro408Leu) c.902C>T (p.Pro301Leu) c.1202C>T (p.Pro401Leu) c.1205C>T (p.Pro402Leu) c.884C>T (p.Pro295Leu) c.1049C>T (p.Pro350Leu) c.*549C>T (n.*549C>T) c.716C>T (p.Pro239Leu) c.1175C>T (p.Pro392Leu) c.1067C>T (p.Pro356Leu) c.1220C>T (p.Pro407Leu) c.1172C>T (p.Pro391Leu) c.1055C>T (p.Pro352Leu) c.1037C>T (p.Pro346Leu) | dbSNP |
| 3 | g.69964891A= | CA1373413925 | MITF | c.1158A= (p.Pro386=) c.1155A= (p.Pro385=) n.1380A= c.1131A= (p.Pro377=) c.1114-23A= (n.1114-23A=) c.1224A= (p.Pro408=) c.903A= (p.Pro301=) c.1203A= (p.Pro401=) c.1206A= (p.Pro402=) c.885A= (p.Pro295=) c.1050A= (p.Pro350=) c.*550A= (n.*550A=) c.717A= (p.Pro239=) c.1176A= (p.Pro392=) c.1068A= (p.Pro356=) c.1221A= (p.Pro407=) c.1173A= (p.Pro391=) c.1056A= (p.Pro352=) c.1038A= (p.Pro346=) | |
| 3 | g.69964891A>C | CA434433388 | MITF | c.1158A>C (p.Pro386=) c.1155A>C (p.Pro385=) n.1380A>C c.1131A>C (p.Pro377=) c.1114-23A>C (n.1114-23A>C) c.1224A>C (p.Pro408=) c.903A>C (p.Pro301=) c.1203A>C (p.Pro401=) c.1206A>C (p.Pro402=) c.885A>C (p.Pro295=) c.1050A>C (p.Pro350=) c.*550A>C (n.*550A>C) c.717A>C (p.Pro239=) c.1176A>C (p.Pro392=) c.1068A>C (p.Pro356=) c.1221A>C (p.Pro407=) c.1173A>C (p.Pro391=) c.1056A>C (p.Pro352=) c.1038A>C (p.Pro346=) | |
| 3 | g.69964891A>G | CA434433389 | MITF | c.1158A>G (p.Pro386=) c.1155A>G (p.Pro385=) n.1380A>G c.1131A>G (p.Pro377=) c.1114-23A>G (n.1114-23A>G) c.1224A>G (p.Pro408=) c.903A>G (p.Pro301=) c.1203A>G (p.Pro401=) c.1206A>G (p.Pro402=) c.885A>G (p.Pro295=) c.1050A>G (p.Pro350=) c.*550A>G (n.*550A>G) c.717A>G (p.Pro239=) c.1176A>G (p.Pro392=) c.1068A>G (p.Pro356=) c.1221A>G (p.Pro407=) c.1173A>G (p.Pro391=) c.1056A>G (p.Pro352=) c.1038A>G (p.Pro346=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69964891A>T | CA2490627 | MITF | c.1158A>T (p.Pro386=) c.1155A>T (p.Pro385=) n.1380A>T c.1131A>T (p.Pro377=) c.1114-23A>T (n.1114-23A>T) c.1224A>T (p.Pro408=) c.903A>T (p.Pro301=) c.1203A>T (p.Pro401=) c.1206A>T (p.Pro402=) c.885A>T (p.Pro295=) c.1050A>T (p.Pro350=) c.*550A>T (n.*550A>T) c.717A>T (p.Pro239=) c.1176A>T (p.Pro392=) c.1068A>T (p.Pro356=) c.1221A>T (p.Pro407=) c.1173A>T (p.Pro391=) c.1056A>T (p.Pro352=) c.1038A>T (p.Pro346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964892T>A | CA353559395 | MITF | c.1159T>A (p.Ser387Thr) c.1156T>A (p.Ser386Thr) n.1381T>A c.1132T>A (p.Ser378Thr) c.1114-22T>A (n.1114-22T>A) c.1225T>A (p.Ser409Thr) c.904T>A (p.Ser302Thr) c.1204T>A (p.Ser402Thr) c.1207T>A (p.Ser403Thr) c.886T>A (p.Ser296Thr) c.1051T>A (p.Ser351Thr) c.*551T>A (n.*551T>A) c.718T>A (p.Ser240Thr) c.1177T>A (p.Ser393Thr) c.1069T>A (p.Ser357Thr) c.1222T>A (p.Ser408Thr) c.1174T>A (p.Ser392Thr) c.1057T>A (p.Ser353Thr) c.1039T>A (p.Ser347Thr) | |
| 3 | g.69964892T>C | CA353559396 | MITF | c.1159T>C (p.Ser387Pro) c.1156T>C (p.Ser386Pro) n.1381T>C c.1132T>C (p.Ser378Pro) c.1114-22T>C (n.1114-22T>C) c.1225T>C (p.Ser409Pro) c.904T>C (p.Ser302Pro) c.1204T>C (p.Ser402Pro) c.1207T>C (p.Ser403Pro) c.886T>C (p.Ser296Pro) c.1051T>C (p.Ser351Pro) c.*551T>C (n.*551T>C) c.718T>C (p.Ser240Pro) c.1177T>C (p.Ser393Pro) c.1069T>C (p.Ser357Pro) c.1222T>C (p.Ser408Pro) c.1174T>C (p.Ser392Pro) c.1057T>C (p.Ser353Pro) c.1039T>C (p.Ser347Pro) | dbSNP |
| 3 | g.69964892T>G | CA353559397 | MITF | c.1159T>G (p.Ser387Ala) c.1156T>G (p.Ser386Ala) n.1381T>G c.1132T>G (p.Ser378Ala) c.1114-22T>G (n.1114-22T>G) c.1225T>G (p.Ser409Ala) c.904T>G (p.Ser302Ala) c.1204T>G (p.Ser402Ala) c.1207T>G (p.Ser403Ala) c.886T>G (p.Ser296Ala) c.1051T>G (p.Ser351Ala) c.*551T>G (n.*551T>G) c.718T>G (p.Ser240Ala) c.1177T>G (p.Ser393Ala) c.1069T>G (p.Ser357Ala) c.1222T>G (p.Ser408Ala) c.1174T>G (p.Ser392Ala) c.1057T>G (p.Ser353Ala) c.1039T>G (p.Ser347Ala) | |
| 3 | g.69964892T= | CA1373413928 | MITF | c.1159T= (p.Ser387=) c.1156T= (p.Ser386=) n.1381T= c.1132T= (p.Ser378=) c.1114-22T= (n.1114-22T=) c.1225T= (p.Ser409=) c.904T= (p.Ser302=) c.1204T= (p.Ser402=) c.1207T= (p.Ser403=) c.886T= (p.Ser296=) c.1051T= (p.Ser351=) c.*551T= (n.*551T=) c.718T= (p.Ser240=) c.1177T= (p.Ser393=) c.1069T= (p.Ser357=) c.1222T= (p.Ser408=) c.1174T= (p.Ser392=) c.1057T= (p.Ser353=) c.1039T= (p.Ser347=) | |
| 3 | g.69964893C>A | CA353559398 | MITF | c.1160C>A (p.Ser387Tyr) c.1157C>A (p.Ser386Tyr) n.1382C>A c.1133C>A (p.Ser378Tyr) c.1114-21C>A (n.1114-21C>A) c.1226C>A (p.Ser409Tyr) c.905C>A (p.Ser302Tyr) c.1205C>A (p.Ser402Tyr) c.1208C>A (p.Ser403Tyr) c.887C>A (p.Ser296Tyr) c.1052C>A (p.Ser351Tyr) c.*552C>A (n.*552C>A) c.719C>A (p.Ser240Tyr) c.1178C>A (p.Ser393Tyr) c.1070C>A (p.Ser357Tyr) c.1223C>A (p.Ser408Tyr) c.1175C>A (p.Ser392Tyr) c.1058C>A (p.Ser353Tyr) c.1040C>A (p.Ser347Tyr) | gnomAD v4 |
| 3 | g.69964893C>G | CA353559399 | MITF | c.1160C>G (p.Ser387Cys) c.1157C>G (p.Ser386Cys) n.1382C>G c.1133C>G (p.Ser378Cys) c.1114-21C>G (n.1114-21C>G) c.1226C>G (p.Ser409Cys) c.905C>G (p.Ser302Cys) c.1205C>G (p.Ser402Cys) c.1208C>G (p.Ser403Cys) c.887C>G (p.Ser296Cys) c.1052C>G (p.Ser351Cys) c.*552C>G (n.*552C>G) c.719C>G (p.Ser240Cys) c.1178C>G (p.Ser393Cys) c.1070C>G (p.Ser357Cys) c.1223C>G (p.Ser408Cys) c.1175C>G (p.Ser392Cys) c.1058C>G (p.Ser353Cys) c.1040C>G (p.Ser347Cys) | |
| 3 | g.69964893C>T | CA353559400 | MITF | c.1160C>T (p.Ser387Phe) c.1157C>T (p.Ser386Phe) n.1382C>T c.1133C>T (p.Ser378Phe) c.1114-21C>T (n.1114-21C>T) c.1226C>T (p.Ser409Phe) c.905C>T (p.Ser302Phe) c.1205C>T (p.Ser402Phe) c.1208C>T (p.Ser403Phe) c.887C>T (p.Ser296Phe) c.1052C>T (p.Ser351Phe) c.*552C>T (n.*552C>T) c.719C>T (p.Ser240Phe) c.1178C>T (p.Ser393Phe) c.1070C>T (p.Ser357Phe) c.1223C>T (p.Ser408Phe) c.1175C>T (p.Ser392Phe) c.1058C>T (p.Ser353Phe) c.1040C>T (p.Ser347Phe) | gnomAD v4 |
| 3 | g.69964894C>A | CA434433390 | MITF | c.1161C>A (p.Ser387=) c.1158C>A (p.Ser386=) n.1383C>A c.1134C>A (p.Ser378=) c.1114-20C>A (n.1114-20C>A) c.1227C>A (p.Ser409=) c.906C>A (p.Ser302=) c.1206C>A (p.Ser402=) c.1209C>A (p.Ser403=) c.888C>A (p.Ser296=) c.1053C>A (p.Ser351=) c.*553C>A (n.*553C>A) c.720C>A (p.Ser240=) c.1179C>A (p.Ser393=) c.1071C>A (p.Ser357=) c.1224C>A (p.Ser408=) c.1176C>A (p.Ser392=) c.1059C>A (p.Ser353=) c.1041C>A (p.Ser347=) | |
| 3 | g.69964894C>G | CA434433391 | MITF | c.1161C>G (p.Ser387=) c.1158C>G (p.Ser386=) n.1383C>G c.1134C>G (p.Ser378=) c.1114-20C>G (n.1114-20C>G) c.1227C>G (p.Ser409=) c.906C>G (p.Ser302=) c.1206C>G (p.Ser402=) c.1209C>G (p.Ser403=) c.888C>G (p.Ser296=) c.1053C>G (p.Ser351=) c.*553C>G (n.*553C>G) c.720C>G (p.Ser240=) c.1179C>G (p.Ser393=) c.1071C>G (p.Ser357=) c.1224C>G (p.Ser408=) c.1176C>G (p.Ser392=) c.1059C>G (p.Ser353=) c.1041C>G (p.Ser347=) | |
| 3 | g.69964894C>T | CA434433392 | MITF | c.1161C>T (p.Ser387=) c.1158C>T (p.Ser386=) n.1383C>T c.1134C>T (p.Ser378=) c.1114-20C>T (n.1114-20C>T) c.1227C>T (p.Ser409=) c.906C>T (p.Ser302=) c.1206C>T (p.Ser402=) c.1209C>T (p.Ser403=) c.888C>T (p.Ser296=) c.1053C>T (p.Ser351=) c.*553C>T (n.*553C>T) c.720C>T (p.Ser240=) c.1179C>T (p.Ser393=) c.1071C>T (p.Ser357=) c.1224C>T (p.Ser408=) c.1176C>T (p.Ser392=) c.1059C>T (p.Ser353=) c.1041C>T (p.Ser347=) | dbSNP |
| 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) |