Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.69964868G>A | CA77003517 | MITF | c.1135G>A (p.Ala379Thr) c.1132G>A (p.Ala378Thr) n.1357G>A c.1108G>A (p.Ala370Thr) c.1114-46G>A (n.1114-46G>A) c.1201G>A (p.Ala401Thr) c.880G>A (p.Ala294Thr) c.1180G>A (p.Ala394Thr) c.1183G>A (p.Ala395Thr) c.862G>A (p.Ala288Thr) c.1027G>A (p.Ala343Thr) c.*527G>A (n.*527G>A) c.694G>A (p.Ala232Thr) c.1153G>A (p.Ala385Thr) c.1045G>A (p.Ala349Thr) c.1198G>A (p.Ala400Thr) c.1150G>A (p.Ala384Thr) c.1033G>A (p.Ala345Thr) c.1015G>A (p.Ala339Thr) | ClinVar dbSNP |
3 | g.69964868G>C | CA353559349 | MITF | c.1135G>C (p.Ala379Pro) c.1132G>C (p.Ala378Pro) n.1357G>C c.1108G>C (p.Ala370Pro) c.1114-46G>C (n.1114-46G>C) c.1201G>C (p.Ala401Pro) c.880G>C (p.Ala294Pro) c.1180G>C (p.Ala394Pro) c.1183G>C (p.Ala395Pro) c.862G>C (p.Ala288Pro) c.1027G>C (p.Ala343Pro) c.*527G>C (n.*527G>C) c.694G>C (p.Ala232Pro) c.1153G>C (p.Ala385Pro) c.1045G>C (p.Ala349Pro) c.1198G>C (p.Ala400Pro) c.1150G>C (p.Ala384Pro) c.1033G>C (p.Ala345Pro) c.1015G>C (p.Ala339Pro) | |
3 | g.69964868G= | CA1373413881 | MITF | c.1135G= (p.Ala379=) c.1132G= (p.Ala378=) n.1357G= c.1108G= (p.Ala370=) c.1114-46G= (n.1114-46G=) c.1201G= (p.Ala401=) c.880G= (p.Ala294=) c.1180G= (p.Ala394=) c.1183G= (p.Ala395=) c.862G= (p.Ala288=) c.1027G= (p.Ala343=) c.*527G= (n.*527G=) c.694G= (p.Ala232=) c.1153G= (p.Ala385=) c.1045G= (p.Ala349=) c.1198G= (p.Ala400=) c.1150G= (p.Ala384=) c.1033G= (p.Ala345=) c.1015G= (p.Ala339=) | |
3 | g.69964868G>T | CA353559350 | MITF | c.1135G>T (p.Ala379Ser) c.1132G>T (p.Ala378Ser) n.1357G>T c.1108G>T (p.Ala370Ser) c.1114-46G>T (n.1114-46G>T) c.1201G>T (p.Ala401Ser) c.880G>T (p.Ala294Ser) c.1180G>T (p.Ala394Ser) c.1183G>T (p.Ala395Ser) c.862G>T (p.Ala288Ser) c.1027G>T (p.Ala343Ser) c.*527G>T (n.*527G>T) c.694G>T (p.Ala232Ser) c.1153G>T (p.Ala385Ser) c.1045G>T (p.Ala349Ser) c.1198G>T (p.Ala400Ser) c.1150G>T (p.Ala384Ser) c.1033G>T (p.Ala345Ser) c.1015G>T (p.Ala339Ser) | |
3 | g.69964868dup | CA2586972652 | MITF | c.1135dup (p.Ala379GlyfsTer29) c.1132dup (p.Ala378GlyfsTer29) n.1357dup c.1108dup (p.Ala370GlyfsTer29) c.1114-46dup (n.1114-46dup) c.1201dup (p.Ala401GlyfsTer29) c.880dup (p.Ala294GlyfsTer29) c.1180dup (p.Ala394GlyfsTer29) c.1183dup (p.Ala395GlyfsTer29) c.862dup (p.Ala288GlyfsTer29) c.1027dup (p.Ala343GlyfsTer29) c.*527dup (n.*527dup) c.694dup (p.Ala232GlyfsTer29) c.1153dup (p.Ala385GlyfsTer29) c.1045dup (p.Ala349GlyfsTer29) c.1198dup (p.Ala400GlyfsTer29) c.1150dup (p.Ala384GlyfsTer29) c.1033dup (p.Ala345GlyfsTer29) c.1015dup (p.Ala339GlyfsTer29) | |
3 | g.69964869C>A | CA353559353 | MITF | c.1136C>A (p.Ala379Asp) c.1133C>A (p.Ala378Asp) n.1358C>A c.1109C>A (p.Ala370Asp) c.1114-45C>A (n.1114-45C>A) c.1202C>A (p.Ala401Asp) c.881C>A (p.Ala294Asp) c.1181C>A (p.Ala394Asp) c.1184C>A (p.Ala395Asp) c.863C>A (p.Ala288Asp) c.1028C>A (p.Ala343Asp) c.*528C>A (n.*528C>A) c.695C>A (p.Ala232Asp) c.1154C>A (p.Ala385Asp) c.1046C>A (p.Ala349Asp) c.1199C>A (p.Ala400Asp) c.1151C>A (p.Ala384Asp) c.1034C>A (p.Ala345Asp) c.1016C>A (p.Ala339Asp) | |
3 | g.69964869C= | CA1373413886 | MITF | c.1136C= (p.Ala379=) c.1133C= (p.Ala378=) n.1358C= c.1109C= (p.Ala370=) c.1114-45C= (n.1114-45C=) c.1202C= (p.Ala401=) c.881C= (p.Ala294=) c.1181C= (p.Ala394=) c.1184C= (p.Ala395=) c.863C= (p.Ala288=) c.1028C= (p.Ala343=) c.*528C= (n.*528C=) c.695C= (p.Ala232=) c.1154C= (p.Ala385=) c.1046C= (p.Ala349=) c.1199C= (p.Ala400=) c.1151C= (p.Ala384=) c.1034C= (p.Ala345=) c.1016C= (p.Ala339=) | |
3 | g.69964869C>G | CA353559352 | MITF | c.1136C>G (p.Ala379Gly) c.1133C>G (p.Ala378Gly) n.1358C>G c.1109C>G (p.Ala370Gly) c.1114-45C>G (n.1114-45C>G) c.1202C>G (p.Ala401Gly) c.881C>G (p.Ala294Gly) c.1181C>G (p.Ala394Gly) c.1184C>G (p.Ala395Gly) c.863C>G (p.Ala288Gly) c.1028C>G (p.Ala343Gly) c.*528C>G (n.*528C>G) c.695C>G (p.Ala232Gly) c.1154C>G (p.Ala385Gly) c.1046C>G (p.Ala349Gly) c.1199C>G (p.Ala400Gly) c.1151C>G (p.Ala384Gly) c.1034C>G (p.Ala345Gly) c.1016C>G (p.Ala339Gly) | gnomAD v4 |
3 | g.69964869C>T | CA353559351 | MITF | c.1136C>T (p.Ala379Val) c.1133C>T (p.Ala378Val) n.1358C>T c.1109C>T (p.Ala370Val) c.1114-45C>T (n.1114-45C>T) c.1202C>T (p.Ala401Val) c.881C>T (p.Ala294Val) c.1181C>T (p.Ala394Val) c.1184C>T (p.Ala395Val) c.863C>T (p.Ala288Val) c.1028C>T (p.Ala343Val) c.*528C>T (n.*528C>T) c.695C>T (p.Ala232Val) c.1154C>T (p.Ala385Val) c.1046C>T (p.Ala349Val) c.1199C>T (p.Ala400Val) c.1151C>T (p.Ala384Val) c.1034C>T (p.Ala345Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP gnomAD v4 |
3 | g.69964870T>A | CA434433345 | MITF | c.1137T>A (p.Ala379=) c.1134T>A (p.Ala378=) n.1359T>A c.1110T>A (p.Ala370=) c.1114-44T>A (n.1114-44T>A) c.1203T>A (p.Ala401=) c.882T>A (p.Ala294=) c.1182T>A (p.Ala394=) c.1185T>A (p.Ala395=) c.864T>A (p.Ala288=) c.1029T>A (p.Ala343=) c.*529T>A (n.*529T>A) c.696T>A (p.Ala232=) c.1155T>A (p.Ala385=) c.1047T>A (p.Ala349=) c.1200T>A (p.Ala400=) c.1152T>A (p.Ala384=) c.1035T>A (p.Ala345=) c.1017T>A (p.Ala339=) | |
3 | g.69964870T>C | CA434433346 | MITF | c.1137T>C (p.Ala379=) c.1134T>C (p.Ala378=) n.1359T>C c.1110T>C (p.Ala370=) c.1114-44T>C (n.1114-44T>C) c.1203T>C (p.Ala401=) c.882T>C (p.Ala294=) c.1182T>C (p.Ala394=) c.1185T>C (p.Ala395=) c.864T>C (p.Ala288=) c.1029T>C (p.Ala343=) c.*529T>C (n.*529T>C) c.696T>C (p.Ala232=) c.1155T>C (p.Ala385=) c.1047T>C (p.Ala349=) c.1200T>C (p.Ala400=) c.1152T>C (p.Ala384=) c.1035T>C (p.Ala345=) c.1017T>C (p.Ala339=) | |
3 | g.69964870T>G | CA434433347 | MITF | c.1137T>G (p.Ala379=) c.1134T>G (p.Ala378=) n.1359T>G c.1110T>G (p.Ala370=) c.1114-44T>G (n.1114-44T>G) c.1203T>G (p.Ala401=) c.882T>G (p.Ala294=) c.1182T>G (p.Ala394=) c.1185T>G (p.Ala395=) c.864T>G (p.Ala288=) c.1029T>G (p.Ala343=) c.*529T>G (n.*529T>G) c.696T>G (p.Ala232=) c.1155T>G (p.Ala385=) c.1047T>G (p.Ala349=) c.1200T>G (p.Ala400=) c.1152T>G (p.Ala384=) c.1035T>G (p.Ala345=) c.1017T>G (p.Ala339=) | |
3 | g.69964871C>A | CA353559354 | MITF | c.1138C>A (p.His380Asn) c.1135C>A (p.His379Asn) n.1360C>A c.1111C>A (p.His371Asn) c.1114-43C>A (n.1114-43C>A) c.1204C>A (p.His402Asn) c.883C>A (p.His295Asn) c.1183C>A (p.His395Asn) c.1186C>A (p.His396Asn) c.865C>A (p.His289Asn) c.1030C>A (p.His344Asn) c.*530C>A (n.*530C>A) c.697C>A (p.His233Asn) c.1156C>A (p.His386Asn) c.1048C>A (p.His350Asn) c.1201C>A (p.His401Asn) c.1153C>A (p.His385Asn) c.1036C>A (p.His346Asn) c.1018C>A (p.His340Asn) | |
3 | g.69964871C>G | CA353559355 | MITF | c.1138C>G (p.His380Asp) c.1135C>G (p.His379Asp) n.1360C>G c.1111C>G (p.His371Asp) c.1114-43C>G (n.1114-43C>G) c.1204C>G (p.His402Asp) c.883C>G (p.His295Asp) c.1183C>G (p.His395Asp) c.1186C>G (p.His396Asp) c.865C>G (p.His289Asp) c.1030C>G (p.His344Asp) c.*530C>G (n.*530C>G) c.697C>G (p.His233Asp) c.1156C>G (p.His386Asp) c.1048C>G (p.His350Asp) c.1201C>G (p.His401Asp) c.1153C>G (p.His385Asp) c.1036C>G (p.His346Asp) c.1018C>G (p.His340Asp) | |
3 | g.69964871C>T | CA353559356 | MITF | c.1138C>T (p.His380Tyr) c.1135C>T (p.His379Tyr) n.1360C>T c.1111C>T (p.His371Tyr) c.1114-43C>T (n.1114-43C>T) c.1204C>T (p.His402Tyr) c.883C>T (p.His295Tyr) c.1183C>T (p.His395Tyr) c.1186C>T (p.His396Tyr) c.865C>T (p.His289Tyr) c.1030C>T (p.His344Tyr) c.*530C>T (n.*530C>T) c.697C>T (p.His233Tyr) c.1156C>T (p.His386Tyr) c.1048C>T (p.His350Tyr) c.1201C>T (p.His401Tyr) c.1153C>T (p.His385Tyr) c.1036C>T (p.His346Tyr) c.1018C>T (p.His340Tyr) | |
3 | g.69964872A>C | CA353559357 | MITF | c.1139A>C (p.His380Pro) c.1136A>C (p.His379Pro) n.1361A>C c.1112A>C (p.His371Pro) c.1114-42A>C (n.1114-42A>C) c.1205A>C (p.His402Pro) c.884A>C (p.His295Pro) c.1184A>C (p.His395Pro) c.1187A>C (p.His396Pro) c.866A>C (p.His289Pro) c.1031A>C (p.His344Pro) c.*531A>C (n.*531A>C) c.698A>C (p.His233Pro) c.1157A>C (p.His386Pro) c.1049A>C (p.His350Pro) c.1202A>C (p.His401Pro) c.1154A>C (p.His385Pro) c.1037A>C (p.His346Pro) c.1019A>C (p.His340Pro) | ClinVar |
3 | g.69964872A>G | CA353559358 | MITF | c.1139A>G (p.His380Arg) c.1136A>G (p.His379Arg) n.1361A>G c.1112A>G (p.His371Arg) c.1114-42A>G (n.1114-42A>G) c.1205A>G (p.His402Arg) c.884A>G (p.His295Arg) c.1184A>G (p.His395Arg) c.1187A>G (p.His396Arg) c.866A>G (p.His289Arg) c.1031A>G (p.His344Arg) c.*531A>G (n.*531A>G) c.698A>G (p.His233Arg) c.1157A>G (p.His386Arg) c.1049A>G (p.His350Arg) c.1202A>G (p.His401Arg) c.1154A>G (p.His385Arg) c.1037A>G (p.His346Arg) c.1019A>G (p.His340Arg) | gnomAD v4 |
3 | g.69964872A>T | CA353559359 | MITF | c.1139A>T (p.His380Leu) c.1136A>T (p.His379Leu) n.1361A>T c.1112A>T (p.His371Leu) c.1114-42A>T (n.1114-42A>T) c.1205A>T (p.His402Leu) c.884A>T (p.His295Leu) c.1184A>T (p.His395Leu) c.1187A>T (p.His396Leu) c.866A>T (p.His289Leu) c.1031A>T (p.His344Leu) c.*531A>T (n.*531A>T) c.698A>T (p.His233Leu) c.1157A>T (p.His386Leu) c.1049A>T (p.His350Leu) c.1202A>T (p.His401Leu) c.1154A>T (p.His385Leu) c.1037A>T (p.His346Leu) c.1019A>T (p.His340Leu) | ClinVar |
3 | g.69964873T>A | CA353559360 | MITF | c.1140T>A (p.His380Gln) c.1137T>A (p.His379Gln) n.1362T>A c.1113T>A (p.His371Gln) c.1114-41T>A (n.1114-41T>A) c.1206T>A (p.His402Gln) c.885T>A (p.His295Gln) c.1185T>A (p.His395Gln) c.1188T>A (p.His396Gln) c.867T>A (p.His289Gln) c.1032T>A (p.His344Gln) c.*532T>A (n.*532T>A) c.699T>A (p.His233Gln) c.1158T>A (p.His386Gln) c.1050T>A (p.His350Gln) c.1203T>A (p.His401Gln) c.1155T>A (p.His385Gln) c.1038T>A (p.His346Gln) c.1020T>A (p.His340Gln) | |
3 | g.69964873T>C | CA434433349 | MITF | c.1140T>C (p.His380=) c.1137T>C (p.His379=) n.1362T>C c.1113T>C (p.His371=) c.1114-41T>C (n.1114-41T>C) c.1206T>C (p.His402=) c.885T>C (p.His295=) c.1185T>C (p.His395=) c.1188T>C (p.His396=) c.867T>C (p.His289=) c.1032T>C (p.His344=) c.*532T>C (n.*532T>C) c.699T>C (p.His233=) c.1158T>C (p.His386=) c.1050T>C (p.His350=) c.1203T>C (p.His401=) c.1155T>C (p.His385=) c.1038T>C (p.His346=) c.1020T>C (p.His340=) | gnomAD v4 |
3 | g.69964873T>G | CA353559361 | MITF | c.1140T>G (p.His380Gln) c.1137T>G (p.His379Gln) n.1362T>G c.1113T>G (p.His371Gln) c.1114-41T>G (n.1114-41T>G) c.1206T>G (p.His402Gln) c.885T>G (p.His295Gln) c.1185T>G (p.His395Gln) c.1188T>G (p.His396Gln) c.867T>G (p.His289Gln) c.1032T>G (p.His344Gln) c.*532T>G (n.*532T>G) c.699T>G (p.His233Gln) c.1158T>G (p.His386Gln) c.1050T>G (p.His350Gln) c.1203T>G (p.His401Gln) c.1155T>G (p.His385Gln) c.1038T>G (p.His346Gln) c.1020T>G (p.His340Gln) | |
3 | g.69964873_69964874delinsTG | CA1373413889 | MITF | c.1140_1141delinsTG (p.His380=) c.1137_1138delinsTG (p.His379=) n.1362_1363delinsTG c.1113_1114delinsTG (p.His371=) c.1114-41_1114-40delinsTG (n.1114-41_1114-40delinsTG) c.1206_1207delinsTG (p.His402=) c.885_886delinsTG (p.His295=) c.1185_1186delinsTG (p.His395=) c.1188_1189delinsTG (p.His396=) c.867_868delinsTG (p.His289=) c.1032_1033delinsTG (p.His344=) c.*532_*533delinsTG (n.*532_*533delinsTG) c.699_700delinsTG (p.His233=) c.1158_1159delinsTG (p.His386=) c.1050_1051delinsTG (p.His350=) c.1203_1204delinsTG (p.His401=) c.1155_1156delinsTG (p.His385=) c.1038_1039delinsTG (p.His346=) c.1020_1021delinsTG (p.His340=) | |
3 | g.69964874G>A | CA353559362 | MITF | c.1141G>A (p.Gly381Arg) c.1138G>A (p.Gly380Arg) n.1363G>A c.1114G>A (p.Gly372Arg) c.1114-40G>A (n.1114-40G>A) c.1207G>A (p.Gly403Arg) c.886G>A (p.Gly296Arg) c.1186G>A (p.Gly396Arg) c.1189G>A (p.Gly397Arg) c.868G>A (p.Gly290Arg) c.1033G>A (p.Gly345Arg) c.*533G>A (n.*533G>A) c.700G>A (p.Gly234Arg) c.1159G>A (p.Gly387Arg) c.1051G>A (p.Gly351Arg) c.1204G>A (p.Gly402Arg) c.1156G>A (p.Gly386Arg) c.1039G>A (p.Gly347Arg) c.1021G>A (p.Gly341Arg) | |
3 | g.69964874G>C | CA353559363 | MITF | c.1141G>C (p.Gly381Arg) c.1138G>C (p.Gly380Arg) n.1363G>C c.1114G>C (p.Gly372Arg) c.1114-40G>C (n.1114-40G>C) c.1207G>C (p.Gly403Arg) c.886G>C (p.Gly296Arg) c.1186G>C (p.Gly396Arg) c.1189G>C (p.Gly397Arg) c.868G>C (p.Gly290Arg) c.1033G>C (p.Gly345Arg) c.*533G>C (n.*533G>C) c.700G>C (p.Gly234Arg) c.1159G>C (p.Gly387Arg) c.1051G>C (p.Gly351Arg) c.1204G>C (p.Gly402Arg) c.1156G>C (p.Gly386Arg) c.1039G>C (p.Gly347Arg) c.1021G>C (p.Gly341Arg) | |
3 | g.69964874G>T | CA353559364 | MITF | c.1141G>T (p.Gly381Ter) c.1138G>T (p.Gly380Ter) n.1363G>T c.1114G>T (p.Gly372Ter) c.1114-40G>T (n.1114-40G>T) c.1207G>T (p.Gly403Ter) c.886G>T (p.Gly296Ter) c.1186G>T (p.Gly396Ter) c.1189G>T (p.Gly397Ter) c.868G>T (p.Gly290Ter) c.1033G>T (p.Gly345Ter) c.*533G>T (n.*533G>T) c.700G>T (p.Gly234Ter) c.1159G>T (p.Gly387Ter) c.1051G>T (p.Gly351Ter) c.1204G>T (p.Gly402Ter) c.1156G>T (p.Gly386Ter) c.1039G>T (p.Gly347Ter) c.1021G>T (p.Gly341Ter) | |
3 | g.69964875del | CA10581502 | MITF | c.1142del (p.Gly381AspfsTer16) c.1139del (p.Gly380AspfsTer16) n.1364del c.1115del (p.Gly372AspfsTer16) c.1114-39del (n.1114-39del) c.1208del (p.Gly403AspfsTer16) c.887del (p.Gly296AspfsTer16) c.1187del (p.Gly396AspfsTer16) c.1190del (p.Gly397AspfsTer16) c.869del (p.Gly290AspfsTer16) c.1034del (p.Gly345AspfsTer16) c.*534del (n.*534del) c.701del (p.Gly234AspfsTer16) c.1160del (p.Gly387AspfsTer16) c.1052del (p.Gly351AspfsTer16) c.1205del (p.Gly402AspfsTer16) c.1157del (p.Gly386AspfsTer16) c.1040del (p.Gly347AspfsTer16) c.1022del (p.Gly341AspfsTer16) | ClinVar dbSNP |
3 | g.69964875G>A | CA353559366 | MITF | c.1142G>A (p.Gly381Glu) c.1139G>A (p.Gly380Glu) n.1364G>A c.1115G>A (p.Gly372Glu) c.1114-39G>A (n.1114-39G>A) c.1208G>A (p.Gly403Glu) c.887G>A (p.Gly296Glu) c.1187G>A (p.Gly396Glu) c.1190G>A (p.Gly397Glu) c.869G>A (p.Gly290Glu) c.1034G>A (p.Gly345Glu) c.*534G>A (n.*534G>A) c.701G>A (p.Gly234Glu) c.1160G>A (p.Gly387Glu) c.1052G>A (p.Gly351Glu) c.1205G>A (p.Gly402Glu) c.1157G>A (p.Gly386Glu) c.1040G>A (p.Gly347Glu) c.1022G>A (p.Gly341Glu) | gnomAD v4 |
3 | g.69964875G>C | CA353559367 | MITF | c.1142G>C (p.Gly381Ala) c.1139G>C (p.Gly380Ala) n.1364G>C c.1115G>C (p.Gly372Ala) c.1114-39G>C (n.1114-39G>C) c.1208G>C (p.Gly403Ala) c.887G>C (p.Gly296Ala) c.1187G>C (p.Gly396Ala) c.1190G>C (p.Gly397Ala) c.869G>C (p.Gly290Ala) c.1034G>C (p.Gly345Ala) c.*534G>C (n.*534G>C) c.701G>C (p.Gly234Ala) c.1160G>C (p.Gly387Ala) c.1052G>C (p.Gly351Ala) c.1205G>C (p.Gly402Ala) c.1157G>C (p.Gly386Ala) c.1040G>C (p.Gly347Ala) c.1022G>C (p.Gly341Ala) | |
3 | g.69964875G>T | CA353559365 | MITF | c.1142G>T (p.Gly381Val) c.1139G>T (p.Gly380Val) n.1364G>T c.1115G>T (p.Gly372Val) c.1114-39G>T (n.1114-39G>T) c.1208G>T (p.Gly403Val) c.887G>T (p.Gly296Val) c.1187G>T (p.Gly396Val) c.1190G>T (p.Gly397Val) c.869G>T (p.Gly290Val) c.1034G>T (p.Gly345Val) c.*534G>T (n.*534G>T) c.701G>T (p.Gly234Val) c.1160G>T (p.Gly387Val) c.1052G>T (p.Gly351Val) c.1205G>T (p.Gly402Val) c.1157G>T (p.Gly386Val) c.1040G>T (p.Gly347Val) c.1022G>T (p.Gly341Val) | |
3 | g.69964876A>C | CA434433354 | MITF | c.1143A>C (p.Gly381=) c.1140A>C (p.Gly380=) n.1365A>C c.1116A>C (p.Gly372=) c.1114-38A>C (n.1114-38A>C) c.1209A>C (p.Gly403=) c.888A>C (p.Gly296=) c.1188A>C (p.Gly396=) c.1191A>C (p.Gly397=) c.870A>C (p.Gly290=) c.1035A>C (p.Gly345=) c.*535A>C (n.*535A>C) c.702A>C (p.Gly234=) c.1161A>C (p.Gly387=) c.1053A>C (p.Gly351=) c.1206A>C (p.Gly402=) c.1158A>C (p.Gly386=) c.1041A>C (p.Gly347=) c.1023A>C (p.Gly341=) | |
3 | g.69964876A>G | CA434433355 | MITF | c.1143A>G (p.Gly381=) c.1140A>G (p.Gly380=) n.1365A>G c.1116A>G (p.Gly372=) c.1114-38A>G (n.1114-38A>G) c.1209A>G (p.Gly403=) c.888A>G (p.Gly296=) c.1188A>G (p.Gly396=) c.1191A>G (p.Gly397=) c.870A>G (p.Gly290=) c.1035A>G (p.Gly345=) c.*535A>G (n.*535A>G) c.702A>G (p.Gly234=) c.1161A>G (p.Gly387=) c.1053A>G (p.Gly351=) c.1206A>G (p.Gly402=) c.1158A>G (p.Gly386=) c.1041A>G (p.Gly347=) c.1023A>G (p.Gly341=) | gnomAD v4 |
3 | g.69964876A>T | CA434433357 | MITF | c.1143A>T (p.Gly381=) c.1140A>T (p.Gly380=) n.1365A>T c.1116A>T (p.Gly372=) c.1114-38A>T (n.1114-38A>T) c.1209A>T (p.Gly403=) c.888A>T (p.Gly296=) c.1188A>T (p.Gly396=) c.1191A>T (p.Gly397=) c.870A>T (p.Gly290=) c.1035A>T (p.Gly345=) c.*535A>T (n.*535A>T) c.702A>T (p.Gly234=) c.1161A>T (p.Gly387=) c.1053A>T (p.Gly351=) c.1206A>T (p.Gly402=) c.1158A>T (p.Gly386=) c.1041A>T (p.Gly347=) c.1023A>T (p.Gly341=) | |
3 | g.69964877C>A | CA353559369 | MITF | c.1144C>A (p.Leu382Ile) c.1141C>A (p.Leu381Ile) n.1366C>A c.1117C>A (p.Leu373Ile) c.1114-37C>A (n.1114-37C>A) c.1210C>A (p.Leu404Ile) c.889C>A (p.Leu297Ile) c.1189C>A (p.Leu397Ile) c.1192C>A (p.Leu398Ile) c.871C>A (p.Leu291Ile) c.1036C>A (p.Leu346Ile) c.*536C>A (n.*536C>A) c.703C>A (p.Leu235Ile) c.1162C>A (p.Leu388Ile) c.1054C>A (p.Leu352Ile) c.1207C>A (p.Leu403Ile) c.1159C>A (p.Leu387Ile) c.1042C>A (p.Leu348Ile) c.1024C>A (p.Leu342Ile) | gnomAD v4 |
3 | g.69964877C= | CA1373413897 | MITF | c.1144C= (p.Leu382=) c.1141C= (p.Leu381=) n.1366C= c.1117C= (p.Leu373=) c.1114-37C= (n.1114-37C=) c.1210C= (p.Leu404=) c.889C= (p.Leu297=) c.1189C= (p.Leu397=) c.1192C= (p.Leu398=) c.871C= (p.Leu291=) c.1036C= (p.Leu346=) c.*536C= (n.*536C=) c.703C= (p.Leu235=) c.1162C= (p.Leu388=) c.1054C= (p.Leu352=) c.1207C= (p.Leu403=) c.1159C= (p.Leu387=) c.1042C= (p.Leu348=) c.1024C= (p.Leu342=) | |
3 | g.69964877C>G | CA353559368 | MITF | c.1144C>G (p.Leu382Val) c.1141C>G (p.Leu381Val) n.1366C>G c.1117C>G (p.Leu373Val) c.1114-37C>G (n.1114-37C>G) c.1210C>G (p.Leu404Val) c.889C>G (p.Leu297Val) c.1189C>G (p.Leu397Val) c.1192C>G (p.Leu398Val) c.871C>G (p.Leu291Val) c.1036C>G (p.Leu346Val) c.*536C>G (n.*536C>G) c.703C>G (p.Leu235Val) c.1162C>G (p.Leu388Val) c.1054C>G (p.Leu352Val) c.1207C>G (p.Leu403Val) c.1159C>G (p.Leu387Val) c.1042C>G (p.Leu348Val) c.1024C>G (p.Leu342Val) | |
3 | g.69964877C>T | CA2490624 | MITF | c.1144C>T (p.Leu382Phe) c.1141C>T (p.Leu381Phe) n.1366C>T c.1117C>T (p.Leu373Phe) c.1114-37C>T (n.1114-37C>T) c.1210C>T (p.Leu404Phe) c.889C>T (p.Leu297Phe) c.1189C>T (p.Leu397Phe) c.1192C>T (p.Leu398Phe) c.871C>T (p.Leu291Phe) c.1036C>T (p.Leu346Phe) c.*536C>T (n.*536C>T) c.703C>T (p.Leu235Phe) c.1162C>T (p.Leu388Phe) c.1054C>T (p.Leu352Phe) c.1207C>T (p.Leu403Phe) c.1159C>T (p.Leu387Phe) c.1042C>T (p.Leu348Phe) c.1024C>T (p.Leu342Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69964878T>A | CA353559370 | MITF | c.1145T>A (p.Leu382His) c.1142T>A (p.Leu381His) n.1367T>A c.1118T>A (p.Leu373His) c.1114-36T>A (n.1114-36T>A) c.1211T>A (p.Leu404His) c.890T>A (p.Leu297His) c.1190T>A (p.Leu397His) c.1193T>A (p.Leu398His) c.872T>A (p.Leu291His) c.1037T>A (p.Leu346His) c.*537T>A (n.*537T>A) c.704T>A (p.Leu235His) c.1163T>A (p.Leu388His) c.1055T>A (p.Leu352His) c.1208T>A (p.Leu403His) c.1160T>A (p.Leu387His) c.1043T>A (p.Leu348His) c.1025T>A (p.Leu342His) | |
3 | g.69964878T>C | CA353559371 | MITF | c.1145T>C (p.Leu382Pro) c.1142T>C (p.Leu381Pro) n.1367T>C c.1118T>C (p.Leu373Pro) c.1114-36T>C (n.1114-36T>C) c.1211T>C (p.Leu404Pro) c.890T>C (p.Leu297Pro) c.1190T>C (p.Leu397Pro) c.1193T>C (p.Leu398Pro) c.872T>C (p.Leu291Pro) c.1037T>C (p.Leu346Pro) c.*537T>C (n.*537T>C) c.704T>C (p.Leu235Pro) c.1163T>C (p.Leu388Pro) c.1055T>C (p.Leu352Pro) c.1208T>C (p.Leu403Pro) c.1160T>C (p.Leu387Pro) c.1043T>C (p.Leu348Pro) c.1025T>C (p.Leu342Pro) | dbSNP COSMIC COSMIC COSMIC COSMIC |
3 | g.69964878T>G | CA353559372 | MITF | c.1145T>G (p.Leu382Arg) c.1142T>G (p.Leu381Arg) n.1367T>G c.1118T>G (p.Leu373Arg) c.1114-36T>G (n.1114-36T>G) c.1211T>G (p.Leu404Arg) c.890T>G (p.Leu297Arg) c.1190T>G (p.Leu397Arg) c.1193T>G (p.Leu398Arg) c.872T>G (p.Leu291Arg) c.1037T>G (p.Leu346Arg) c.*537T>G (n.*537T>G) c.704T>G (p.Leu235Arg) c.1163T>G (p.Leu388Arg) c.1055T>G (p.Leu352Arg) c.1208T>G (p.Leu403Arg) c.1160T>G (p.Leu387Arg) c.1043T>G (p.Leu348Arg) c.1025T>G (p.Leu342Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964878T= | CA1373413901 | MITF | c.1145T= (p.Leu382=) c.1142T= (p.Leu381=) n.1367T= c.1118T= (p.Leu373=) c.1114-36T= (n.1114-36T=) c.1211T= (p.Leu404=) c.890T= (p.Leu297=) c.1190T= (p.Leu397=) c.1193T= (p.Leu398=) c.872T= (p.Leu291=) c.1037T= (p.Leu346=) c.*537T= (n.*537T=) c.704T= (p.Leu235=) c.1163T= (p.Leu388=) c.1055T= (p.Leu352=) c.1208T= (p.Leu403=) c.1160T= (p.Leu387=) c.1043T= (p.Leu348=) c.1025T= (p.Leu342=) | |
3 | g.69964879T>A | CA434433370 | MITF | c.1146T>A (p.Leu382=) c.1143T>A (p.Leu381=) n.1368T>A c.1119T>A (p.Leu373=) c.1114-35T>A (n.1114-35T>A) c.1212T>A (p.Leu404=) c.891T>A (p.Leu297=) c.1191T>A (p.Leu397=) c.1194T>A (p.Leu398=) c.873T>A (p.Leu291=) c.1038T>A (p.Leu346=) c.*538T>A (n.*538T>A) c.705T>A (p.Leu235=) c.1164T>A (p.Leu388=) c.1056T>A (p.Leu352=) c.1209T>A (p.Leu403=) c.1161T>A (p.Leu387=) c.1044T>A (p.Leu348=) c.1026T>A (p.Leu342=) | |
3 | g.69964879T>C | CA434433371 | MITF | c.1146T>C (p.Leu382=) c.1143T>C (p.Leu381=) n.1368T>C c.1119T>C (p.Leu373=) c.1114-35T>C (n.1114-35T>C) c.1212T>C (p.Leu404=) c.891T>C (p.Leu297=) c.1191T>C (p.Leu397=) c.1194T>C (p.Leu398=) c.873T>C (p.Leu291=) c.1038T>C (p.Leu346=) c.*538T>C (n.*538T>C) c.705T>C (p.Leu235=) c.1164T>C (p.Leu388=) c.1056T>C (p.Leu352=) c.1209T>C (p.Leu403=) c.1161T>C (p.Leu387=) c.1044T>C (p.Leu348=) c.1026T>C (p.Leu342=) | |
3 | g.69964879T>G | CA434433372 | MITF | c.1146T>G (p.Leu382=) c.1143T>G (p.Leu381=) n.1368T>G c.1119T>G (p.Leu373=) c.1114-35T>G (n.1114-35T>G) c.1212T>G (p.Leu404=) c.891T>G (p.Leu297=) c.1191T>G (p.Leu397=) c.1194T>G (p.Leu398=) c.873T>G (p.Leu291=) c.1038T>G (p.Leu346=) c.*538T>G (n.*538T>G) c.705T>G (p.Leu235=) c.1164T>G (p.Leu388=) c.1056T>G (p.Leu352=) c.1209T>G (p.Leu403=) c.1161T>G (p.Leu387=) c.1044T>G (p.Leu348=) c.1026T>G (p.Leu342=) | |
3 | g.69964880T>A | CA353559374 | MITF | c.1147T>A (p.Ser383Thr) c.1144T>A (p.Ser382Thr) n.1369T>A c.1120T>A (p.Ser374Thr) c.1114-34T>A (n.1114-34T>A) c.1213T>A (p.Ser405Thr) c.892T>A (p.Ser298Thr) c.1192T>A (p.Ser398Thr) c.1195T>A (p.Ser399Thr) c.874T>A (p.Ser292Thr) c.1039T>A (p.Ser347Thr) c.*539T>A (n.*539T>A) c.706T>A (p.Ser236Thr) c.1165T>A (p.Ser389Thr) c.1057T>A (p.Ser353Thr) c.1210T>A (p.Ser404Thr) c.1162T>A (p.Ser388Thr) c.1045T>A (p.Ser349Thr) c.1027T>A (p.Ser343Thr) | |
3 | g.69964880T>C | CA123838 | MITF | c.1147T>C (p.Ser383Pro) c.1144T>C (p.Ser382Pro) n.1369T>C c.1120T>C (p.Ser374Pro) c.1114-34T>C (n.1114-34T>C) c.1213T>C (p.Ser405Pro) c.892T>C (p.Ser298Pro) c.1192T>C (p.Ser398Pro) c.1195T>C (p.Ser399Pro) c.874T>C (p.Ser292Pro) c.1039T>C (p.Ser347Pro) c.*539T>C (n.*539T>C) c.706T>C (p.Ser236Pro) c.1165T>C (p.Ser389Pro) c.1057T>C (p.Ser353Pro) c.1210T>C (p.Ser404Pro) c.1162T>C (p.Ser388Pro) c.1045T>C (p.Ser349Pro) c.1027T>C (p.Ser343Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964880T>G | CA353559373 | MITF | c.1147T>G (p.Ser383Ala) c.1144T>G (p.Ser382Ala) n.1369T>G c.1120T>G (p.Ser374Ala) c.1114-34T>G (n.1114-34T>G) c.1213T>G (p.Ser405Ala) c.892T>G (p.Ser298Ala) c.1192T>G (p.Ser398Ala) c.1195T>G (p.Ser399Ala) c.874T>G (p.Ser292Ala) c.1039T>G (p.Ser347Ala) c.*539T>G (n.*539T>G) c.706T>G (p.Ser236Ala) c.1165T>G (p.Ser389Ala) c.1057T>G (p.Ser353Ala) c.1210T>G (p.Ser404Ala) c.1162T>G (p.Ser388Ala) c.1045T>G (p.Ser349Ala) c.1027T>G (p.Ser343Ala) | |
3 | g.69964880T= | CA1373413906 | MITF | c.1147T= (p.Ser383=) c.1144T= (p.Ser382=) n.1369T= c.1120T= (p.Ser374=) c.1114-34T= (n.1114-34T=) c.1213T= (p.Ser405=) c.892T= (p.Ser298=) c.1192T= (p.Ser398=) c.1195T= (p.Ser399=) c.874T= (p.Ser292=) c.1039T= (p.Ser347=) c.*539T= (n.*539T=) c.706T= (p.Ser236=) c.1165T= (p.Ser389=) c.1057T= (p.Ser353=) c.1210T= (p.Ser404=) c.1162T= (p.Ser388=) c.1045T= (p.Ser349=) c.1027T= (p.Ser343=) | |
3 | g.69964881C>A | CA353559375 | MITF | c.1148C>A (p.Ser383Tyr) c.1145C>A (p.Ser382Tyr) n.1370C>A c.1121C>A (p.Ser374Tyr) c.1114-33C>A (n.1114-33C>A) c.1214C>A (p.Ser405Tyr) c.893C>A (p.Ser298Tyr) c.1193C>A (p.Ser398Tyr) c.1196C>A (p.Ser399Tyr) c.875C>A (p.Ser292Tyr) c.1040C>A (p.Ser347Tyr) c.*540C>A (n.*540C>A) c.707C>A (p.Ser236Tyr) c.1166C>A (p.Ser389Tyr) c.1058C>A (p.Ser353Tyr) c.1211C>A (p.Ser404Tyr) c.1163C>A (p.Ser388Tyr) c.1046C>A (p.Ser349Tyr) c.1028C>A (p.Ser343Tyr) | |
3 | g.69964881C>G | CA353559376 | MITF | c.1148C>G (p.Ser383Cys) c.1145C>G (p.Ser382Cys) n.1370C>G c.1121C>G (p.Ser374Cys) c.1114-33C>G (n.1114-33C>G) c.1214C>G (p.Ser405Cys) c.893C>G (p.Ser298Cys) c.1193C>G (p.Ser398Cys) c.1196C>G (p.Ser399Cys) c.875C>G (p.Ser292Cys) c.1040C>G (p.Ser347Cys) c.*540C>G (n.*540C>G) c.707C>G (p.Ser236Cys) c.1166C>G (p.Ser389Cys) c.1058C>G (p.Ser353Cys) c.1211C>G (p.Ser404Cys) c.1163C>G (p.Ser388Cys) c.1046C>G (p.Ser349Cys) c.1028C>G (p.Ser343Cys) | |
3 | g.69964881C>T | CA353559377 | MITF | c.1148C>T (p.Ser383Phe) c.1145C>T (p.Ser382Phe) n.1370C>T c.1121C>T (p.Ser374Phe) c.1114-33C>T (n.1114-33C>T) c.1214C>T (p.Ser405Phe) c.893C>T (p.Ser298Phe) c.1193C>T (p.Ser398Phe) c.1196C>T (p.Ser399Phe) c.875C>T (p.Ser292Phe) c.1040C>T (p.Ser347Phe) c.*540C>T (n.*540C>T) c.707C>T (p.Ser236Phe) c.1166C>T (p.Ser389Phe) c.1058C>T (p.Ser353Phe) c.1211C>T (p.Ser404Phe) c.1163C>T (p.Ser388Phe) c.1046C>T (p.Ser349Phe) c.1028C>T (p.Ser343Phe) | dbSNP |
3 | g.69964882C>A | CA434433377 | MITF | c.1149C>A (p.Ser383=) c.1146C>A (p.Ser382=) n.1371C>A c.1122C>A (p.Ser374=) c.1114-32C>A (n.1114-32C>A) c.1215C>A (p.Ser405=) c.894C>A (p.Ser298=) c.1194C>A (p.Ser398=) c.1197C>A (p.Ser399=) c.876C>A (p.Ser292=) c.1041C>A (p.Ser347=) c.*541C>A (n.*541C>A) c.708C>A (p.Ser236=) c.1167C>A (p.Ser389=) c.1059C>A (p.Ser353=) c.1212C>A (p.Ser404=) c.1164C>A (p.Ser388=) c.1047C>A (p.Ser349=) c.1029C>A (p.Ser343=) | |
3 | g.69964882C>G | CA434433374 | MITF | c.1149C>G (p.Ser383=) c.1146C>G (p.Ser382=) n.1371C>G c.1122C>G (p.Ser374=) c.1114-32C>G (n.1114-32C>G) c.1215C>G (p.Ser405=) c.894C>G (p.Ser298=) c.1194C>G (p.Ser398=) c.1197C>G (p.Ser399=) c.876C>G (p.Ser292=) c.1041C>G (p.Ser347=) c.*541C>G (n.*541C>G) c.708C>G (p.Ser236=) c.1167C>G (p.Ser389=) c.1059C>G (p.Ser353=) c.1212C>G (p.Ser404=) c.1164C>G (p.Ser388=) c.1047C>G (p.Ser349=) c.1029C>G (p.Ser343=) | |
3 | g.69964882C>T | CA434433375 | MITF | c.1149C>T (p.Ser383=) c.1146C>T (p.Ser382=) n.1371C>T c.1122C>T (p.Ser374=) c.1114-32C>T (n.1114-32C>T) c.1215C>T (p.Ser405=) c.894C>T (p.Ser298=) c.1194C>T (p.Ser398=) c.1197C>T (p.Ser399=) c.876C>T (p.Ser292=) c.1041C>T (p.Ser347=) c.*541C>T (n.*541C>T) c.708C>T (p.Ser236=) c.1167C>T (p.Ser389=) c.1059C>T (p.Ser353=) c.1212C>T (p.Ser404=) c.1164C>T (p.Ser388=) c.1047C>T (p.Ser349=) c.1029C>T (p.Ser343=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
3 | g.69964883C>A | CA353559378 | MITF | c.1150C>A (p.Leu384Ile) c.1147C>A (p.Leu383Ile) n.1372C>A c.1123C>A (p.Leu375Ile) c.1114-31C>A (n.1114-31C>A) c.1216C>A (p.Leu406Ile) c.895C>A (p.Leu299Ile) c.1195C>A (p.Leu399Ile) c.1198C>A (p.Leu400Ile) c.877C>A (p.Leu293Ile) c.1042C>A (p.Leu348Ile) c.*542C>A (n.*542C>A) c.709C>A (p.Leu237Ile) c.1168C>A (p.Leu390Ile) c.1060C>A (p.Leu354Ile) c.1213C>A (p.Leu405Ile) c.1165C>A (p.Leu389Ile) c.1048C>A (p.Leu350Ile) c.1030C>A (p.Leu344Ile) | |
3 | g.69964883C= | CA1373413911 | MITF | c.1150C= (p.Leu384=) c.1147C= (p.Leu383=) n.1372C= c.1123C= (p.Leu375=) c.1114-31C= (n.1114-31C=) c.1216C= (p.Leu406=) c.895C= (p.Leu299=) c.1195C= (p.Leu399=) c.1198C= (p.Leu400=) c.877C= (p.Leu293=) c.1042C= (p.Leu348=) c.*542C= (n.*542C=) c.709C= (p.Leu237=) c.1168C= (p.Leu390=) c.1060C= (p.Leu354=) c.1213C= (p.Leu405=) c.1165C= (p.Leu389=) c.1048C= (p.Leu350=) c.1030C= (p.Leu344=) | |
3 | g.69964883C>G | CA353559379 | MITF | c.1150C>G (p.Leu384Val) c.1147C>G (p.Leu383Val) n.1372C>G c.1123C>G (p.Leu375Val) c.1114-31C>G (n.1114-31C>G) c.1216C>G (p.Leu406Val) c.895C>G (p.Leu299Val) c.1195C>G (p.Leu399Val) c.1198C>G (p.Leu400Val) c.877C>G (p.Leu293Val) c.1042C>G (p.Leu348Val) c.*542C>G (n.*542C>G) c.709C>G (p.Leu237Val) c.1168C>G (p.Leu390Val) c.1060C>G (p.Leu354Val) c.1213C>G (p.Leu405Val) c.1165C>G (p.Leu389Val) c.1048C>G (p.Leu350Val) c.1030C>G (p.Leu344Val) | |
3 | g.69964883C>T | CA2490625 | MITF | c.1150C>T (p.Leu384Phe) c.1147C>T (p.Leu383Phe) n.1372C>T c.1123C>T (p.Leu375Phe) c.1114-31C>T (n.1114-31C>T) c.1216C>T (p.Leu406Phe) c.895C>T (p.Leu299Phe) c.1195C>T (p.Leu399Phe) c.1198C>T (p.Leu400Phe) c.877C>T (p.Leu293Phe) c.1042C>T (p.Leu348Phe) c.*542C>T (n.*542C>T) c.709C>T (p.Leu237Phe) c.1168C>T (p.Leu390Phe) c.1060C>T (p.Leu354Phe) c.1213C>T (p.Leu405Phe) c.1165C>T (p.Leu389Phe) c.1048C>T (p.Leu350Phe) c.1030C>T (p.Leu344Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964884T>A | CA353559380 | MITF | c.1151T>A (p.Leu384His) c.1148T>A (p.Leu383His) n.1373T>A c.1124T>A (p.Leu375His) c.1114-30T>A (n.1114-30T>A) c.1217T>A (p.Leu406His) c.896T>A (p.Leu299His) c.1196T>A (p.Leu399His) c.1199T>A (p.Leu400His) c.878T>A (p.Leu293His) c.1043T>A (p.Leu348His) c.*543T>A (n.*543T>A) c.710T>A (p.Leu237His) c.1169T>A (p.Leu390His) c.1061T>A (p.Leu354His) c.1214T>A (p.Leu405His) c.1166T>A (p.Leu389His) c.1049T>A (p.Leu350His) c.1031T>A (p.Leu344His) | |
3 | g.69964884T>C | CA353559382 | MITF | c.1151T>C (p.Leu384Pro) c.1148T>C (p.Leu383Pro) n.1373T>C c.1124T>C (p.Leu375Pro) c.1114-30T>C (n.1114-30T>C) c.1217T>C (p.Leu406Pro) c.896T>C (p.Leu299Pro) c.1196T>C (p.Leu399Pro) c.1199T>C (p.Leu400Pro) c.878T>C (p.Leu293Pro) c.1043T>C (p.Leu348Pro) c.*543T>C (n.*543T>C) c.710T>C (p.Leu237Pro) c.1169T>C (p.Leu390Pro) c.1061T>C (p.Leu354Pro) c.1214T>C (p.Leu405Pro) c.1166T>C (p.Leu389Pro) c.1049T>C (p.Leu350Pro) c.1031T>C (p.Leu344Pro) | |
3 | g.69964884T>G | CA353559381 | MITF | c.1151T>G (p.Leu384Arg) c.1148T>G (p.Leu383Arg) n.1373T>G c.1124T>G (p.Leu375Arg) c.1114-30T>G (n.1114-30T>G) c.1217T>G (p.Leu406Arg) c.896T>G (p.Leu299Arg) c.1196T>G (p.Leu399Arg) c.1199T>G (p.Leu400Arg) c.878T>G (p.Leu293Arg) c.1043T>G (p.Leu348Arg) c.*543T>G (n.*543T>G) c.710T>G (p.Leu237Arg) c.1169T>G (p.Leu390Arg) c.1061T>G (p.Leu354Arg) c.1214T>G (p.Leu405Arg) c.1166T>G (p.Leu389Arg) c.1049T>G (p.Leu350Arg) c.1031T>G (p.Leu344Arg) | |
3 | g.69964885T>A | CA434433380 | MITF | c.1152T>A (p.Leu384=) c.1149T>A (p.Leu383=) n.1374T>A c.1125T>A (p.Leu375=) c.1114-29T>A (n.1114-29T>A) c.1218T>A (p.Leu406=) c.897T>A (p.Leu299=) c.1197T>A (p.Leu399=) c.1200T>A (p.Leu400=) c.879T>A (p.Leu293=) c.1044T>A (p.Leu348=) c.*544T>A (n.*544T>A) c.711T>A (p.Leu237=) c.1170T>A (p.Leu390=) c.1062T>A (p.Leu354=) c.1215T>A (p.Leu405=) c.1167T>A (p.Leu389=) c.1050T>A (p.Leu350=) c.1032T>A (p.Leu344=) | |
3 | g.69964885T>C | CA434433381 | MITF | c.1152T>C (p.Leu384=) c.1149T>C (p.Leu383=) n.1374T>C c.1125T>C (p.Leu375=) c.1114-29T>C (n.1114-29T>C) c.1218T>C (p.Leu406=) c.897T>C (p.Leu299=) c.1197T>C (p.Leu399=) c.1200T>C (p.Leu400=) c.879T>C (p.Leu293=) c.1044T>C (p.Leu348=) c.*544T>C (n.*544T>C) c.711T>C (p.Leu237=) c.1170T>C (p.Leu390=) c.1062T>C (p.Leu354=) c.1215T>C (p.Leu405=) c.1167T>C (p.Leu389=) c.1050T>C (p.Leu350=) c.1032T>C (p.Leu344=) | gnomAD v4 |
3 | g.69964885T>G | CA434433383 | MITF | c.1152T>G (p.Leu384=) c.1149T>G (p.Leu383=) n.1374T>G c.1125T>G (p.Leu375=) c.1114-29T>G (n.1114-29T>G) c.1218T>G (p.Leu406=) c.897T>G (p.Leu299=) c.1197T>G (p.Leu399=) c.1200T>G (p.Leu400=) c.879T>G (p.Leu293=) c.1044T>G (p.Leu348=) c.*544T>G (n.*544T>G) c.711T>G (p.Leu237=) c.1170T>G (p.Leu390=) c.1062T>G (p.Leu354=) c.1215T>G (p.Leu405=) c.1167T>G (p.Leu389=) c.1050T>G (p.Leu350=) c.1032T>G (p.Leu344=) | |
3 | g.69964886A>C | CA353559383 | MITF | c.1153A>C (p.Ile385Leu) c.1150A>C (p.Ile384Leu) n.1375A>C c.1126A>C (p.Ile376Leu) c.1114-28A>C (n.1114-28A>C) c.1219A>C (p.Ile407Leu) c.898A>C (p.Ile300Leu) c.1198A>C (p.Ile400Leu) c.1201A>C (p.Ile401Leu) c.880A>C (p.Ile294Leu) c.1045A>C (p.Ile349Leu) c.*545A>C (n.*545A>C) c.712A>C (p.Ile238Leu) c.1171A>C (p.Ile391Leu) c.1063A>C (p.Ile355Leu) c.1216A>C (p.Ile406Leu) c.1168A>C (p.Ile390Leu) c.1051A>C (p.Ile351Leu) c.1033A>C (p.Ile345Leu) | |
3 | g.69964886A>G | CA353559384 | MITF | c.1153A>G (p.Ile385Val) c.1150A>G (p.Ile384Val) n.1375A>G c.1126A>G (p.Ile376Val) c.1114-28A>G (n.1114-28A>G) c.1219A>G (p.Ile407Val) c.898A>G (p.Ile300Val) c.1198A>G (p.Ile400Val) c.1201A>G (p.Ile401Val) c.880A>G (p.Ile294Val) c.1045A>G (p.Ile349Val) c.*545A>G (n.*545A>G) c.712A>G (p.Ile238Val) c.1171A>G (p.Ile391Val) c.1063A>G (p.Ile355Val) c.1216A>G (p.Ile406Val) c.1168A>G (p.Ile390Val) c.1051A>G (p.Ile351Val) c.1033A>G (p.Ile345Val) | |
3 | g.69964886A>T | CA353559385 | MITF | c.1153A>T (p.Ile385Phe) c.1150A>T (p.Ile384Phe) n.1375A>T c.1126A>T (p.Ile376Phe) c.1114-28A>T (n.1114-28A>T) c.1219A>T (p.Ile407Phe) c.898A>T (p.Ile300Phe) c.1198A>T (p.Ile400Phe) c.1201A>T (p.Ile401Phe) c.880A>T (p.Ile294Phe) c.1045A>T (p.Ile349Phe) c.*545A>T (n.*545A>T) c.712A>T (p.Ile238Phe) c.1171A>T (p.Ile391Phe) c.1063A>T (p.Ile355Phe) c.1216A>T (p.Ile406Phe) c.1168A>T (p.Ile390Phe) c.1051A>T (p.Ile351Phe) c.1033A>T (p.Ile345Phe) | |
3 | g.69964887T>A | CA353559386 | MITF | c.1154T>A (p.Ile385Asn) c.1151T>A (p.Ile384Asn) n.1376T>A c.1127T>A (p.Ile376Asn) c.1114-27T>A (n.1114-27T>A) c.1220T>A (p.Ile407Asn) c.899T>A (p.Ile300Asn) c.1199T>A (p.Ile400Asn) c.1202T>A (p.Ile401Asn) c.881T>A (p.Ile294Asn) c.1046T>A (p.Ile349Asn) c.*546T>A (n.*546T>A) c.713T>A (p.Ile238Asn) c.1172T>A (p.Ile391Asn) c.1064T>A (p.Ile355Asn) c.1217T>A (p.Ile406Asn) c.1169T>A (p.Ile390Asn) c.1052T>A (p.Ile351Asn) c.1034T>A (p.Ile345Asn) | |
3 | g.69964887T>C | CA353559387 | MITF | c.1154T>C (p.Ile385Thr) c.1151T>C (p.Ile384Thr) n.1376T>C c.1127T>C (p.Ile376Thr) c.1114-27T>C (n.1114-27T>C) c.1220T>C (p.Ile407Thr) c.899T>C (p.Ile300Thr) c.1199T>C (p.Ile400Thr) c.1202T>C (p.Ile401Thr) c.881T>C (p.Ile294Thr) c.1046T>C (p.Ile349Thr) c.*546T>C (n.*546T>C) c.713T>C (p.Ile238Thr) c.1172T>C (p.Ile391Thr) c.1064T>C (p.Ile355Thr) c.1217T>C (p.Ile406Thr) c.1169T>C (p.Ile390Thr) c.1052T>C (p.Ile351Thr) c.1034T>C (p.Ile345Thr) | |
3 | g.69964887T>G | CA353559388 | MITF | c.1154T>G (p.Ile385Ser) c.1151T>G (p.Ile384Ser) n.1376T>G c.1127T>G (p.Ile376Ser) c.1114-27T>G (n.1114-27T>G) c.1220T>G (p.Ile407Ser) c.899T>G (p.Ile300Ser) c.1199T>G (p.Ile400Ser) c.1202T>G (p.Ile401Ser) c.881T>G (p.Ile294Ser) c.1046T>G (p.Ile349Ser) c.*546T>G (n.*546T>G) c.713T>G (p.Ile238Ser) c.1172T>G (p.Ile391Ser) c.1064T>G (p.Ile355Ser) c.1217T>G (p.Ile406Ser) c.1169T>G (p.Ile390Ser) c.1052T>G (p.Ile351Ser) c.1034T>G (p.Ile345Ser) | |
3 | g.69964888T>A | CA434433385 | MITF | c.1155T>A (p.Ile385=) c.1152T>A (p.Ile384=) n.1377T>A c.1128T>A (p.Ile376=) c.1114-26T>A (n.1114-26T>A) c.1221T>A (p.Ile407=) c.900T>A (p.Ile300=) c.1200T>A (p.Ile400=) c.1203T>A (p.Ile401=) c.882T>A (p.Ile294=) c.1047T>A (p.Ile349=) c.*547T>A (n.*547T>A) c.714T>A (p.Ile238=) c.1173T>A (p.Ile391=) c.1065T>A (p.Ile355=) c.1218T>A (p.Ile406=) c.1170T>A (p.Ile390=) c.1053T>A (p.Ile351=) c.1035T>A (p.Ile345=) | |
3 | g.69964888T>C | CA434433386 | MITF | c.1155T>C (p.Ile385=) c.1152T>C (p.Ile384=) n.1377T>C c.1128T>C (p.Ile376=) c.1114-26T>C (n.1114-26T>C) c.1221T>C (p.Ile407=) c.900T>C (p.Ile300=) c.1200T>C (p.Ile400=) c.1203T>C (p.Ile401=) c.882T>C (p.Ile294=) c.1047T>C (p.Ile349=) c.*547T>C (n.*547T>C) c.714T>C (p.Ile238=) c.1173T>C (p.Ile391=) c.1065T>C (p.Ile355=) c.1218T>C (p.Ile406=) c.1170T>C (p.Ile390=) c.1053T>C (p.Ile351=) c.1035T>C (p.Ile345=) | |
3 | g.69964888T>G | CA353559389 | MITF | c.1155T>G (p.Ile385Met) c.1152T>G (p.Ile384Met) n.1377T>G c.1128T>G (p.Ile376Met) c.1114-26T>G (n.1114-26T>G) c.1221T>G (p.Ile407Met) c.900T>G (p.Ile300Met) c.1200T>G (p.Ile400Met) c.1203T>G (p.Ile401Met) c.882T>G (p.Ile294Met) c.1047T>G (p.Ile349Met) c.*547T>G (n.*547T>G) c.714T>G (p.Ile238Met) c.1173T>G (p.Ile391Met) c.1065T>G (p.Ile355Met) c.1218T>G (p.Ile406Met) c.1170T>G (p.Ile390Met) c.1053T>G (p.Ile351Met) c.1035T>G (p.Ile345Met) | |
3 | g.69964889C>A | CA353559390 | MITF | c.1156C>A (p.Pro386Thr) c.1153C>A (p.Pro385Thr) n.1378C>A c.1129C>A (p.Pro377Thr) c.1114-25C>A (n.1114-25C>A) c.1222C>A (p.Pro408Thr) c.901C>A (p.Pro301Thr) c.1201C>A (p.Pro401Thr) c.1204C>A (p.Pro402Thr) c.883C>A (p.Pro295Thr) c.1048C>A (p.Pro350Thr) c.*548C>A (n.*548C>A) c.715C>A (p.Pro239Thr) c.1174C>A (p.Pro392Thr) c.1066C>A (p.Pro356Thr) c.1219C>A (p.Pro407Thr) c.1171C>A (p.Pro391Thr) c.1054C>A (p.Pro352Thr) c.1036C>A (p.Pro346Thr) | |
3 | g.69964889C= | CA1373413914 | MITF | c.1156C= (p.Pro386=) c.1153C= (p.Pro385=) n.1378C= c.1129C= (p.Pro377=) c.1114-25C= (n.1114-25C=) c.1222C= (p.Pro408=) c.901C= (p.Pro301=) c.1201C= (p.Pro401=) c.1204C= (p.Pro402=) c.883C= (p.Pro295=) c.1048C= (p.Pro350=) c.*548C= (n.*548C=) c.715C= (p.Pro239=) c.1174C= (p.Pro392=) c.1066C= (p.Pro356=) c.1219C= (p.Pro407=) c.1171C= (p.Pro391=) c.1054C= (p.Pro352=) c.1036C= (p.Pro346=) | |
3 | g.69964889C>G | CA2490626 | MITF | c.1156C>G (p.Pro386Ala) c.1153C>G (p.Pro385Ala) n.1378C>G c.1129C>G (p.Pro377Ala) c.1114-25C>G (n.1114-25C>G) c.1222C>G (p.Pro408Ala) c.901C>G (p.Pro301Ala) c.1201C>G (p.Pro401Ala) c.1204C>G (p.Pro402Ala) c.883C>G (p.Pro295Ala) c.1048C>G (p.Pro350Ala) c.*548C>G (n.*548C>G) c.715C>G (p.Pro239Ala) c.1174C>G (p.Pro392Ala) c.1066C>G (p.Pro356Ala) c.1219C>G (p.Pro407Ala) c.1171C>G (p.Pro391Ala) c.1054C>G (p.Pro352Ala) c.1036C>G (p.Pro346Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964889C>T | CA353559391 | MITF | c.1156C>T (p.Pro386Ser) c.1153C>T (p.Pro385Ser) n.1378C>T c.1129C>T (p.Pro377Ser) c.1114-25C>T (n.1114-25C>T) c.1222C>T (p.Pro408Ser) c.901C>T (p.Pro301Ser) c.1201C>T (p.Pro401Ser) c.1204C>T (p.Pro402Ser) c.883C>T (p.Pro295Ser) c.1048C>T (p.Pro350Ser) c.*548C>T (n.*548C>T) c.715C>T (p.Pro239Ser) c.1174C>T (p.Pro392Ser) c.1066C>T (p.Pro356Ser) c.1219C>T (p.Pro407Ser) c.1171C>T (p.Pro391Ser) c.1054C>T (p.Pro352Ser) c.1036C>T (p.Pro346Ser) | |
3 | g.69964890C>A | CA353559394 | MITF | c.1157C>A (p.Pro386Gln) c.1154C>A (p.Pro385Gln) n.1379C>A c.1130C>A (p.Pro377Gln) c.1114-24C>A (n.1114-24C>A) c.1223C>A (p.Pro408Gln) c.902C>A (p.Pro301Gln) c.1202C>A (p.Pro401Gln) c.1205C>A (p.Pro402Gln) c.884C>A (p.Pro295Gln) c.1049C>A (p.Pro350Gln) c.*549C>A (n.*549C>A) c.716C>A (p.Pro239Gln) c.1175C>A (p.Pro392Gln) c.1067C>A (p.Pro356Gln) c.1220C>A (p.Pro407Gln) c.1172C>A (p.Pro391Gln) c.1055C>A (p.Pro352Gln) c.1037C>A (p.Pro346Gln) | |
3 | g.69964890C>G | CA353559393 | MITF | c.1157C>G (p.Pro386Arg) c.1154C>G (p.Pro385Arg) n.1379C>G c.1130C>G (p.Pro377Arg) c.1114-24C>G (n.1114-24C>G) c.1223C>G (p.Pro408Arg) c.902C>G (p.Pro301Arg) c.1202C>G (p.Pro401Arg) c.1205C>G (p.Pro402Arg) c.884C>G (p.Pro295Arg) c.1049C>G (p.Pro350Arg) c.*549C>G (n.*549C>G) c.716C>G (p.Pro239Arg) c.1175C>G (p.Pro392Arg) c.1067C>G (p.Pro356Arg) c.1220C>G (p.Pro407Arg) c.1172C>G (p.Pro391Arg) c.1055C>G (p.Pro352Arg) c.1037C>G (p.Pro346Arg) | |
3 | g.69964890C>T | CA353559392 | MITF | c.1157C>T (p.Pro386Leu) c.1154C>T (p.Pro385Leu) n.1379C>T c.1130C>T (p.Pro377Leu) c.1114-24C>T (n.1114-24C>T) c.1223C>T (p.Pro408Leu) c.902C>T (p.Pro301Leu) c.1202C>T (p.Pro401Leu) c.1205C>T (p.Pro402Leu) c.884C>T (p.Pro295Leu) c.1049C>T (p.Pro350Leu) c.*549C>T (n.*549C>T) c.716C>T (p.Pro239Leu) c.1175C>T (p.Pro392Leu) c.1067C>T (p.Pro356Leu) c.1220C>T (p.Pro407Leu) c.1172C>T (p.Pro391Leu) c.1055C>T (p.Pro352Leu) c.1037C>T (p.Pro346Leu) | dbSNP |
3 | g.69964891A= | CA1373413925 | MITF | c.1158A= (p.Pro386=) c.1155A= (p.Pro385=) n.1380A= c.1131A= (p.Pro377=) c.1114-23A= (n.1114-23A=) c.1224A= (p.Pro408=) c.903A= (p.Pro301=) c.1203A= (p.Pro401=) c.1206A= (p.Pro402=) c.885A= (p.Pro295=) c.1050A= (p.Pro350=) c.*550A= (n.*550A=) c.717A= (p.Pro239=) c.1176A= (p.Pro392=) c.1068A= (p.Pro356=) c.1221A= (p.Pro407=) c.1173A= (p.Pro391=) c.1056A= (p.Pro352=) c.1038A= (p.Pro346=) | |
3 | g.69964891A>C | CA434433388 | MITF | c.1158A>C (p.Pro386=) c.1155A>C (p.Pro385=) n.1380A>C c.1131A>C (p.Pro377=) c.1114-23A>C (n.1114-23A>C) c.1224A>C (p.Pro408=) c.903A>C (p.Pro301=) c.1203A>C (p.Pro401=) c.1206A>C (p.Pro402=) c.885A>C (p.Pro295=) c.1050A>C (p.Pro350=) c.*550A>C (n.*550A>C) c.717A>C (p.Pro239=) c.1176A>C (p.Pro392=) c.1068A>C (p.Pro356=) c.1221A>C (p.Pro407=) c.1173A>C (p.Pro391=) c.1056A>C (p.Pro352=) c.1038A>C (p.Pro346=) | |
3 | g.69964891A>G | CA434433389 | MITF | c.1158A>G (p.Pro386=) c.1155A>G (p.Pro385=) n.1380A>G c.1131A>G (p.Pro377=) c.1114-23A>G (n.1114-23A>G) c.1224A>G (p.Pro408=) c.903A>G (p.Pro301=) c.1203A>G (p.Pro401=) c.1206A>G (p.Pro402=) c.885A>G (p.Pro295=) c.1050A>G (p.Pro350=) c.*550A>G (n.*550A>G) c.717A>G (p.Pro239=) c.1176A>G (p.Pro392=) c.1068A>G (p.Pro356=) c.1221A>G (p.Pro407=) c.1173A>G (p.Pro391=) c.1056A>G (p.Pro352=) c.1038A>G (p.Pro346=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964891A>T | CA2490627 | MITF | c.1158A>T (p.Pro386=) c.1155A>T (p.Pro385=) n.1380A>T c.1131A>T (p.Pro377=) c.1114-23A>T (n.1114-23A>T) c.1224A>T (p.Pro408=) c.903A>T (p.Pro301=) c.1203A>T (p.Pro401=) c.1206A>T (p.Pro402=) c.885A>T (p.Pro295=) c.1050A>T (p.Pro350=) c.*550A>T (n.*550A>T) c.717A>T (p.Pro239=) c.1176A>T (p.Pro392=) c.1068A>T (p.Pro356=) c.1221A>T (p.Pro407=) c.1173A>T (p.Pro391=) c.1056A>T (p.Pro352=) c.1038A>T (p.Pro346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964892T>A | CA353559395 | MITF | c.1159T>A (p.Ser387Thr) c.1156T>A (p.Ser386Thr) n.1381T>A c.1132T>A (p.Ser378Thr) c.1114-22T>A (n.1114-22T>A) c.1225T>A (p.Ser409Thr) c.904T>A (p.Ser302Thr) c.1204T>A (p.Ser402Thr) c.1207T>A (p.Ser403Thr) c.886T>A (p.Ser296Thr) c.1051T>A (p.Ser351Thr) c.*551T>A (n.*551T>A) c.718T>A (p.Ser240Thr) c.1177T>A (p.Ser393Thr) c.1069T>A (p.Ser357Thr) c.1222T>A (p.Ser408Thr) c.1174T>A (p.Ser392Thr) c.1057T>A (p.Ser353Thr) c.1039T>A (p.Ser347Thr) | |
3 | g.69964892T>C | CA353559396 | MITF | c.1159T>C (p.Ser387Pro) c.1156T>C (p.Ser386Pro) n.1381T>C c.1132T>C (p.Ser378Pro) c.1114-22T>C (n.1114-22T>C) c.1225T>C (p.Ser409Pro) c.904T>C (p.Ser302Pro) c.1204T>C (p.Ser402Pro) c.1207T>C (p.Ser403Pro) c.886T>C (p.Ser296Pro) c.1051T>C (p.Ser351Pro) c.*551T>C (n.*551T>C) c.718T>C (p.Ser240Pro) c.1177T>C (p.Ser393Pro) c.1069T>C (p.Ser357Pro) c.1222T>C (p.Ser408Pro) c.1174T>C (p.Ser392Pro) c.1057T>C (p.Ser353Pro) c.1039T>C (p.Ser347Pro) | dbSNP |
3 | g.69964892T>G | CA353559397 | MITF | c.1159T>G (p.Ser387Ala) c.1156T>G (p.Ser386Ala) n.1381T>G c.1132T>G (p.Ser378Ala) c.1114-22T>G (n.1114-22T>G) c.1225T>G (p.Ser409Ala) c.904T>G (p.Ser302Ala) c.1204T>G (p.Ser402Ala) c.1207T>G (p.Ser403Ala) c.886T>G (p.Ser296Ala) c.1051T>G (p.Ser351Ala) c.*551T>G (n.*551T>G) c.718T>G (p.Ser240Ala) c.1177T>G (p.Ser393Ala) c.1069T>G (p.Ser357Ala) c.1222T>G (p.Ser408Ala) c.1174T>G (p.Ser392Ala) c.1057T>G (p.Ser353Ala) c.1039T>G (p.Ser347Ala) | |
3 | g.69964892T= | CA1373413928 | MITF | c.1159T= (p.Ser387=) c.1156T= (p.Ser386=) n.1381T= c.1132T= (p.Ser378=) c.1114-22T= (n.1114-22T=) c.1225T= (p.Ser409=) c.904T= (p.Ser302=) c.1204T= (p.Ser402=) c.1207T= (p.Ser403=) c.886T= (p.Ser296=) c.1051T= (p.Ser351=) c.*551T= (n.*551T=) c.718T= (p.Ser240=) c.1177T= (p.Ser393=) c.1069T= (p.Ser357=) c.1222T= (p.Ser408=) c.1174T= (p.Ser392=) c.1057T= (p.Ser353=) c.1039T= (p.Ser347=) | |
3 | g.69964893C>A | CA353559398 | MITF | c.1160C>A (p.Ser387Tyr) c.1157C>A (p.Ser386Tyr) n.1382C>A c.1133C>A (p.Ser378Tyr) c.1114-21C>A (n.1114-21C>A) c.1226C>A (p.Ser409Tyr) c.905C>A (p.Ser302Tyr) c.1205C>A (p.Ser402Tyr) c.1208C>A (p.Ser403Tyr) c.887C>A (p.Ser296Tyr) c.1052C>A (p.Ser351Tyr) c.*552C>A (n.*552C>A) c.719C>A (p.Ser240Tyr) c.1178C>A (p.Ser393Tyr) c.1070C>A (p.Ser357Tyr) c.1223C>A (p.Ser408Tyr) c.1175C>A (p.Ser392Tyr) c.1058C>A (p.Ser353Tyr) c.1040C>A (p.Ser347Tyr) | gnomAD v4 |
3 | g.69964893C>G | CA353559399 | MITF | c.1160C>G (p.Ser387Cys) c.1157C>G (p.Ser386Cys) n.1382C>G c.1133C>G (p.Ser378Cys) c.1114-21C>G (n.1114-21C>G) c.1226C>G (p.Ser409Cys) c.905C>G (p.Ser302Cys) c.1205C>G (p.Ser402Cys) c.1208C>G (p.Ser403Cys) c.887C>G (p.Ser296Cys) c.1052C>G (p.Ser351Cys) c.*552C>G (n.*552C>G) c.719C>G (p.Ser240Cys) c.1178C>G (p.Ser393Cys) c.1070C>G (p.Ser357Cys) c.1223C>G (p.Ser408Cys) c.1175C>G (p.Ser392Cys) c.1058C>G (p.Ser353Cys) c.1040C>G (p.Ser347Cys) | |
3 | g.69964893C>T | CA353559400 | MITF | c.1160C>T (p.Ser387Phe) c.1157C>T (p.Ser386Phe) n.1382C>T c.1133C>T (p.Ser378Phe) c.1114-21C>T (n.1114-21C>T) c.1226C>T (p.Ser409Phe) c.905C>T (p.Ser302Phe) c.1205C>T (p.Ser402Phe) c.1208C>T (p.Ser403Phe) c.887C>T (p.Ser296Phe) c.1052C>T (p.Ser351Phe) c.*552C>T (n.*552C>T) c.719C>T (p.Ser240Phe) c.1178C>T (p.Ser393Phe) c.1070C>T (p.Ser357Phe) c.1223C>T (p.Ser408Phe) c.1175C>T (p.Ser392Phe) c.1058C>T (p.Ser353Phe) c.1040C>T (p.Ser347Phe) | gnomAD v4 |
3 | g.69964894C>A | CA434433390 | MITF | c.1161C>A (p.Ser387=) c.1158C>A (p.Ser386=) n.1383C>A c.1134C>A (p.Ser378=) c.1114-20C>A (n.1114-20C>A) c.1227C>A (p.Ser409=) c.906C>A (p.Ser302=) c.1206C>A (p.Ser402=) c.1209C>A (p.Ser403=) c.888C>A (p.Ser296=) c.1053C>A (p.Ser351=) c.*553C>A (n.*553C>A) c.720C>A (p.Ser240=) c.1179C>A (p.Ser393=) c.1071C>A (p.Ser357=) c.1224C>A (p.Ser408=) c.1176C>A (p.Ser392=) c.1059C>A (p.Ser353=) c.1041C>A (p.Ser347=) | |
3 | g.69964894C>G | CA434433391 | MITF | c.1161C>G (p.Ser387=) c.1158C>G (p.Ser386=) n.1383C>G c.1134C>G (p.Ser378=) c.1114-20C>G (n.1114-20C>G) c.1227C>G (p.Ser409=) c.906C>G (p.Ser302=) c.1206C>G (p.Ser402=) c.1209C>G (p.Ser403=) c.888C>G (p.Ser296=) c.1053C>G (p.Ser351=) c.*553C>G (n.*553C>G) c.720C>G (p.Ser240=) c.1179C>G (p.Ser393=) c.1071C>G (p.Ser357=) c.1224C>G (p.Ser408=) c.1176C>G (p.Ser392=) c.1059C>G (p.Ser353=) c.1041C>G (p.Ser347=) | |
3 | g.69964894C>T | CA434433392 | MITF | c.1161C>T (p.Ser387=) c.1158C>T (p.Ser386=) n.1383C>T c.1134C>T (p.Ser378=) c.1114-20C>T (n.1114-20C>T) c.1227C>T (p.Ser409=) c.906C>T (p.Ser302=) c.1206C>T (p.Ser402=) c.1209C>T (p.Ser403=) c.888C>T (p.Ser296=) c.1053C>T (p.Ser351=) c.*553C>T (n.*553C>T) c.720C>T (p.Ser240=) c.1179C>T (p.Ser393=) c.1071C>T (p.Ser357=) c.1224C>T (p.Ser408=) c.1176C>T (p.Ser392=) c.1059C>T (p.Ser353=) c.1041C>T (p.Ser347=) | dbSNP |
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) | |
3 | g.69964909T>A | CA434433410 | MITF | c.1176T>A (p.Ser392=) c.1173T>A (p.Ser391=) n.1398T>A c.1149T>A (p.Ser383=) c.1114-5T>A (n.1114-5T>A) c.1242T>A (p.Ser414=) c.921T>A (p.Ser307=) c.1221T>A (p.Ser407=) c.1224T>A (p.Ser408=) c.903T>A (p.Ser301=) c.1068T>A (p.Ser356=) c.*568T>A (n.*568T>A) c.735T>A (p.Ser245=) c.1194T>A (p.Ser398=) c.1086T>A (p.Ser362=) c.1239T>A (p.Ser413=) c.1191T>A (p.Ser397=) c.1074T>A (p.Ser358=) c.1056T>A (p.Ser352=) | |
3 | g.69964909T>C | CA434433413 | MITF | c.1176T>C (p.Ser392=) c.1173T>C (p.Ser391=) n.1398T>C c.1149T>C (p.Ser383=) c.1114-5T>C (n.1114-5T>C) c.1242T>C (p.Ser414=) c.921T>C (p.Ser307=) c.1221T>C (p.Ser407=) c.1224T>C (p.Ser408=) c.903T>C (p.Ser301=) c.1068T>C (p.Ser356=) c.*568T>C (n.*568T>C) c.735T>C (p.Ser245=) c.1194T>C (p.Ser398=) c.1086T>C (p.Ser362=) c.1239T>C (p.Ser413=) c.1191T>C (p.Ser397=) c.1074T>C (p.Ser358=) c.1056T>C (p.Ser352=) | |
3 | g.69964909T>G | CA434433411 | MITF | c.1176T>G (p.Ser392=) c.1173T>G (p.Ser391=) n.1398T>G c.1149T>G (p.Ser383=) c.1114-5T>G (n.1114-5T>G) c.1242T>G (p.Ser414=) c.921T>G (p.Ser307=) c.1221T>G (p.Ser407=) c.1224T>G (p.Ser408=) c.903T>G (p.Ser301=) c.1068T>G (p.Ser356=) c.*568T>G (n.*568T>G) c.735T>G (p.Ser245=) c.1194T>G (p.Ser398=) c.1086T>G (p.Ser362=) c.1239T>G (p.Ser413=) c.1191T>G (p.Ser397=) c.1074T>G (p.Ser358=) c.1056T>G (p.Ser352=) | gnomAD v4 |
3 | g.69964910C>A | CA353559434 | MITF | c.1177C>A (p.Pro393Thr) c.1174C>A (p.Pro392Thr) n.1399C>A c.1150C>A (p.Pro384Thr) c.1114-4C>A (n.1114-4C>A) c.1243C>A (p.Pro415Thr) c.922C>A (p.Pro308Thr) c.1222C>A (p.Pro408Thr) c.1225C>A (p.Pro409Thr) c.904C>A (p.Pro302Thr) c.1069C>A (p.Pro357Thr) c.*569C>A (n.*569C>A) c.736C>A (p.Pro246Thr) c.1195C>A (p.Pro399Thr) c.1087C>A (p.Pro363Thr) c.1240C>A (p.Pro414Thr) c.1192C>A (p.Pro398Thr) c.1075C>A (p.Pro359Thr) c.1057C>A (p.Pro353Thr) | |
3 | g.69964910C= | CA1373413955 | MITF | c.1177C= (p.Pro393=) c.1174C= (p.Pro392=) n.1399C= c.1150C= (p.Pro384=) c.1114-4C= (n.1114-4C=) c.1243C= (p.Pro415=) c.922C= (p.Pro308=) c.1222C= (p.Pro408=) c.1225C= (p.Pro409=) c.904C= (p.Pro302=) c.1069C= (p.Pro357=) c.*569C= (n.*569C=) c.736C= (p.Pro246=) c.1195C= (p.Pro399=) c.1087C= (p.Pro363=) c.1240C= (p.Pro414=) c.1192C= (p.Pro398=) c.1075C= (p.Pro359=) c.1057C= (p.Pro353=) | |
3 | g.69964910C>G | CA353559432 | MITF | c.1177C>G (p.Pro393Ala) c.1174C>G (p.Pro392Ala) n.1399C>G c.1150C>G (p.Pro384Ala) c.1114-4C>G (n.1114-4C>G) c.1243C>G (p.Pro415Ala) c.922C>G (p.Pro308Ala) c.1222C>G (p.Pro408Ala) c.1225C>G (p.Pro409Ala) c.904C>G (p.Pro302Ala) c.1069C>G (p.Pro357Ala) c.*569C>G (n.*569C>G) c.736C>G (p.Pro246Ala) c.1195C>G (p.Pro399Ala) c.1087C>G (p.Pro363Ala) c.1240C>G (p.Pro414Ala) c.1192C>G (p.Pro398Ala) c.1075C>G (p.Pro359Ala) c.1057C>G (p.Pro353Ala) | |
3 | g.69964910C>T | CA353559433 | MITF | c.1177C>T (p.Pro393Ser) c.1174C>T (p.Pro392Ser) n.1399C>T c.1150C>T (p.Pro384Ser) c.1114-4C>T (n.1114-4C>T) c.1243C>T (p.Pro415Ser) c.922C>T (p.Pro308Ser) c.1222C>T (p.Pro408Ser) c.1225C>T (p.Pro409Ser) c.904C>T (p.Pro302Ser) c.1069C>T (p.Pro357Ser) c.*569C>T (n.*569C>T) c.736C>T (p.Pro246Ser) c.1195C>T (p.Pro399Ser) c.1087C>T (p.Pro363Ser) c.1240C>T (p.Pro414Ser) c.1192C>T (p.Pro398Ser) c.1075C>T (p.Pro359Ser) c.1057C>T (p.Pro353Ser) | dbSNP gnomAD v4 |
3 | g.69964911C>A | CA353559435 | MITF | c.1178C>A (p.Pro393Gln) c.1175C>A (p.Pro392Gln) n.1400C>A c.1151C>A (p.Pro384Gln) c.1114-3C>A (n.1114-3C>A) c.1244C>A (p.Pro415Gln) c.923C>A (p.Pro308Gln) c.1223C>A (p.Pro408Gln) c.1226C>A (p.Pro409Gln) c.905C>A (p.Pro302Gln) c.1070C>A (p.Pro357Gln) c.*570C>A (n.*570C>A) c.737C>A (p.Pro246Gln) c.1196C>A (p.Pro399Gln) c.1088C>A (p.Pro363Gln) c.1241C>A (p.Pro414Gln) c.1193C>A (p.Pro398Gln) c.1076C>A (p.Pro359Gln) c.1058C>A (p.Pro353Gln) | |
3 | g.69964911C>G | CA353559436 | MITF | c.1178C>G (p.Pro393Arg) c.1175C>G (p.Pro392Arg) n.1400C>G c.1151C>G (p.Pro384Arg) c.1114-3C>G (n.1114-3C>G) c.1244C>G (p.Pro415Arg) c.923C>G (p.Pro308Arg) c.1223C>G (p.Pro408Arg) c.1226C>G (p.Pro409Arg) c.905C>G (p.Pro302Arg) c.1070C>G (p.Pro357Arg) c.*570C>G (n.*570C>G) c.737C>G (p.Pro246Arg) c.1196C>G (p.Pro399Arg) c.1088C>G (p.Pro363Arg) c.1241C>G (p.Pro414Arg) c.1193C>G (p.Pro398Arg) c.1076C>G (p.Pro359Arg) c.1058C>G (p.Pro353Arg) | |
3 | g.69964911C>T | CA353559437 | MITF | c.1178C>T (p.Pro393Leu) c.1175C>T (p.Pro392Leu) n.1400C>T c.1151C>T (p.Pro384Leu) c.1114-3C>T (n.1114-3C>T) c.1244C>T (p.Pro415Leu) c.923C>T (p.Pro308Leu) c.1223C>T (p.Pro408Leu) c.1226C>T (p.Pro409Leu) c.905C>T (p.Pro302Leu) c.1070C>T (p.Pro357Leu) c.*570C>T (n.*570C>T) c.737C>T (p.Pro246Leu) c.1196C>T (p.Pro399Leu) c.1088C>T (p.Pro363Leu) c.1241C>T (p.Pro414Leu) c.1193C>T (p.Pro398Leu) c.1076C>T (p.Pro359Leu) c.1058C>T (p.Pro353Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.69964912A>C | CA434433416 | MITF | c.1179A>C (p.Pro393=) c.1176A>C (p.Pro392=) n.1401A>C c.1152A>C (p.Pro384=) c.1114-2A>C (n.1114-2A>C) c.1245A>C (p.Pro415=) c.924A>C (p.Pro308=) c.1224A>C (p.Pro408=) c.1227A>C (p.Pro409=) c.906A>C (p.Pro302=) c.1071A>C (p.Pro357=) c.*571A>C (n.*571A>C) c.738A>C (p.Pro246=) c.1197A>C (p.Pro399=) c.1089A>C (p.Pro363=) c.1242A>C (p.Pro414=) c.1194A>C (p.Pro398=) c.1077A>C (p.Pro359=) c.1059A>C (p.Pro353=) | |
3 | g.69964912A>G | CA434433417 | MITF | c.1179A>G (p.Pro393=) c.1176A>G (p.Pro392=) n.1401A>G c.1152A>G (p.Pro384=) c.1114-2A>G (n.1114-2A>G) c.1245A>G (p.Pro415=) c.924A>G (p.Pro308=) c.1224A>G (p.Pro408=) c.1227A>G (p.Pro409=) c.906A>G (p.Pro302=) c.1071A>G (p.Pro357=) c.*571A>G (n.*571A>G) c.738A>G (p.Pro246=) c.1197A>G (p.Pro399=) c.1089A>G (p.Pro363=) c.1242A>G (p.Pro414=) c.1194A>G (p.Pro398=) c.1077A>G (p.Pro359=) c.1059A>G (p.Pro353=) | |
3 | g.69964912A>T | CA434433418 | MITF | c.1179A>T (p.Pro393=) c.1176A>T (p.Pro392=) n.1401A>T c.1152A>T (p.Pro384=) c.1114-2A>T (n.1114-2A>T) c.1245A>T (p.Pro415=) c.924A>T (p.Pro308=) c.1224A>T (p.Pro408=) c.1227A>T (p.Pro409=) c.906A>T (p.Pro302=) c.1071A>T (p.Pro357=) c.*571A>T (n.*571A>T) c.738A>T (p.Pro246=) c.1197A>T (p.Pro399=) c.1089A>T (p.Pro363=) c.1242A>T (p.Pro414=) c.1194A>T (p.Pro398=) c.1077A>T (p.Pro359=) c.1059A>T (p.Pro353=) | gnomAD v4 |
3 | g.69964913G>A | CA353559438 | MITF | c.1180G>A (p.Asp394Asn) c.1177G>A (p.Asp393Asn) n.1402G>A c.1153G>A (p.Asp385Asn) c.1114-1G>A (n.1114-1G>A) c.1246G>A (p.Asp416Asn) c.925G>A (p.Asp309Asn) c.1225G>A (p.Asp409Asn) c.1228G>A (p.Asp410Asn) c.907G>A (p.Asp303Asn) c.1072G>A (p.Asp358Asn) c.*572G>A (n.*572G>A) c.739G>A (p.Asp247Asn) c.1198G>A (p.Asp400Asn) c.1090G>A (p.Asp364Asn) c.1243G>A (p.Asp415Asn) c.1195G>A (p.Asp399Asn) c.1078G>A (p.Asp360Asn) c.1060G>A (p.Asp354Asn) | |
3 | g.69964913G>C | CA353559439 | MITF | c.1180G>C (p.Asp394His) c.1177G>C (p.Asp393His) n.1402G>C c.1153G>C (p.Asp385His) c.1114-1G>C (n.1114-1G>C) c.1246G>C (p.Asp416His) c.925G>C (p.Asp309His) c.1225G>C (p.Asp409His) c.1228G>C (p.Asp410His) c.907G>C (p.Asp303His) c.1072G>C (p.Asp358His) c.*572G>C (n.*572G>C) c.739G>C (p.Asp247His) c.1198G>C (p.Asp400His) c.1090G>C (p.Asp364His) c.1243G>C (p.Asp415His) c.1195G>C (p.Asp399His) c.1078G>C (p.Asp360His) c.1060G>C (p.Asp354His) | |
3 | g.69964913G>T | CA353559440 | MITF | c.1180G>T (p.Asp394Tyr) c.1177G>T (p.Asp393Tyr) n.1402G>T c.1153G>T (p.Asp385Tyr) c.1114-1G>T (n.1114-1G>T) c.1246G>T (p.Asp416Tyr) c.925G>T (p.Asp309Tyr) c.1225G>T (p.Asp409Tyr) c.1228G>T (p.Asp410Tyr) c.907G>T (p.Asp303Tyr) c.1072G>T (p.Asp358Tyr) c.*572G>T (n.*572G>T) c.739G>T (p.Asp247Tyr) c.1198G>T (p.Asp400Tyr) c.1090G>T (p.Asp364Tyr) c.1243G>T (p.Asp415Tyr) c.1195G>T (p.Asp399Tyr) c.1078G>T (p.Asp360Tyr) c.1060G>T (p.Asp354Tyr) | |
3 | g.69964914A>C | CA353559441 | MITF | c.1181A>C (p.Asp394Ala) c.1178A>C (p.Asp393Ala) n.1403A>C c.1154A>C (p.Asp385Ala) c.1114A>C (p.Ile372Leu) c.1247A>C (p.Asp416Ala) c.926A>C (p.Asp309Ala) c.1226A>C (p.Asp409Ala) c.1229A>C (p.Asp410Ala) c.908A>C (p.Asp303Ala) c.1073A>C (p.Asp358Ala) c.*573A>C (n.*573A>C) c.740A>C (p.Asp247Ala) c.1199A>C (p.Asp400Ala) c.1091A>C (p.Asp364Ala) c.1244A>C (p.Asp415Ala) c.1196A>C (p.Asp399Ala) c.1079A>C (p.Asp360Ala) c.1061A>C (p.Asp354Ala) | |
3 | g.69964914A>G | CA353559443 | MITF | c.1181A>G (p.Asp394Gly) c.1178A>G (p.Asp393Gly) n.1403A>G c.1154A>G (p.Asp385Gly) c.1114A>G (p.Ile372Val) c.1247A>G (p.Asp416Gly) c.926A>G (p.Asp309Gly) c.1226A>G (p.Asp409Gly) c.1229A>G (p.Asp410Gly) c.908A>G (p.Asp303Gly) c.1073A>G (p.Asp358Gly) c.*573A>G (n.*573A>G) c.740A>G (p.Asp247Gly) c.1199A>G (p.Asp400Gly) c.1091A>G (p.Asp364Gly) c.1244A>G (p.Asp415Gly) c.1196A>G (p.Asp399Gly) c.1079A>G (p.Asp360Gly) c.1061A>G (p.Asp354Gly) | |
3 | g.69964914A>T | CA353559442 | MITF | c.1181A>T (p.Asp394Val) c.1178A>T (p.Asp393Val) n.1403A>T c.1154A>T (p.Asp385Val) c.1114A>T (p.Ile372Phe) c.1247A>T (p.Asp416Val) c.926A>T (p.Asp309Val) c.1226A>T (p.Asp409Val) c.1229A>T (p.Asp410Val) c.908A>T (p.Asp303Val) c.1073A>T (p.Asp358Val) c.*573A>T (n.*573A>T) c.740A>T (p.Asp247Val) c.1199A>T (p.Asp400Val) c.1091A>T (p.Asp364Val) c.1244A>T (p.Asp415Val) c.1196A>T (p.Asp399Val) c.1079A>T (p.Asp360Val) c.1061A>T (p.Asp354Val) | gnomAD v4 |
3 | g.69964915T>A | CA353559444 | MITF | c.1182T>A (p.Asp394Glu) c.1179T>A (p.Asp393Glu) n.1404T>A c.1155T>A (p.Asp385Glu) c.1115T>A (p.Ile372Asn) c.1248T>A (p.Asp416Glu) c.927T>A (p.Asp309Glu) c.1227T>A (p.Asp409Glu) c.1230T>A (p.Asp410Glu) c.909T>A (p.Asp303Glu) c.1074T>A (p.Asp358Glu) c.*574T>A (n.*574T>A) c.741T>A (p.Asp247Glu) c.1200T>A (p.Asp400Glu) c.1092T>A (p.Asp364Glu) c.1245T>A (p.Asp415Glu) c.1197T>A (p.Asp399Glu) c.1080T>A (p.Asp360Glu) c.1062T>A (p.Asp354Glu) | |
3 | g.69964915T>C | CA434433421 | MITF | c.1182T>C (p.Asp394=) c.1179T>C (p.Asp393=) n.1404T>C c.1155T>C (p.Asp385=) c.1115T>C (p.Ile372Thr) c.1248T>C (p.Asp416=) c.927T>C (p.Asp309=) c.1227T>C (p.Asp409=) c.1230T>C (p.Asp410=) c.909T>C (p.Asp303=) c.1074T>C (p.Asp358=) c.*574T>C (n.*574T>C) c.741T>C (p.Asp247=) c.1200T>C (p.Asp400=) c.1092T>C (p.Asp364=) c.1245T>C (p.Asp415=) c.1197T>C (p.Asp399=) c.1080T>C (p.Asp360=) c.1062T>C (p.Asp354=) | gnomAD v4 |
3 | g.69964915T>G | CA353559445 | MITF | c.1182T>G (p.Asp394Glu) c.1179T>G (p.Asp393Glu) n.1404T>G c.1155T>G (p.Asp385Glu) c.1115T>G (p.Ile372Ser) c.1248T>G (p.Asp416Glu) c.927T>G (p.Asp309Glu) c.1227T>G (p.Asp409Glu) c.1230T>G (p.Asp410Glu) c.909T>G (p.Asp303Glu) c.1074T>G (p.Asp358Glu) c.*574T>G (n.*574T>G) c.741T>G (p.Asp247Glu) c.1200T>G (p.Asp400Glu) c.1092T>G (p.Asp364Glu) c.1245T>G (p.Asp415Glu) c.1197T>G (p.Asp399Glu) c.1080T>G (p.Asp360Glu) c.1062T>G (p.Asp354Glu) | |
3 | g.69964916T>A | CA353559446 | MITF | c.1183T>A (p.Leu395Met) c.1180T>A (p.Leu394Met) n.1405T>A c.1156T>A (p.Leu386Met) c.1116T>A (p.Ile372=) c.1249T>A (p.Leu417Met) c.928T>A (p.Leu310Met) c.1228T>A (p.Leu410Met) c.1231T>A (p.Leu411Met) c.910T>A (p.Leu304Met) c.1075T>A (p.Leu359Met) c.*575T>A (n.*575T>A) c.742T>A (p.Leu248Met) c.1201T>A (p.Leu401Met) c.1093T>A (p.Leu365Met) c.1246T>A (p.Leu416Met) c.1198T>A (p.Leu400Met) c.1081T>A (p.Leu361Met) c.1063T>A (p.Leu355Met) | |
3 | g.69964916T>C | CA434433424 | MITF | c.1183T>C (p.Leu395=) c.1180T>C (p.Leu394=) n.1405T>C c.1156T>C (p.Leu386=) c.1116T>C (p.Ile372=) c.1249T>C (p.Leu417=) c.928T>C (p.Leu310=) c.1228T>C (p.Leu410=) c.1231T>C (p.Leu411=) c.910T>C (p.Leu304=) c.1075T>C (p.Leu359=) c.*575T>C (n.*575T>C) c.742T>C (p.Leu248=) c.1201T>C (p.Leu401=) c.1093T>C (p.Leu365=) c.1246T>C (p.Leu416=) c.1198T>C (p.Leu400=) c.1081T>C (p.Leu361=) c.1063T>C (p.Leu355=) | |
3 | g.69964916T>G | CA353559447 | MITF | c.1183T>G (p.Leu395Val) c.1180T>G (p.Leu394Val) n.1405T>G c.1156T>G (p.Leu386Val) c.1116T>G (p.Ile372Met) c.1249T>G (p.Leu417Val) c.928T>G (p.Leu310Val) c.1228T>G (p.Leu410Val) c.1231T>G (p.Leu411Val) c.910T>G (p.Leu304Val) c.1075T>G (p.Leu359Val) c.*575T>G (n.*575T>G) c.742T>G (p.Leu248Val) c.1201T>G (p.Leu401Val) c.1093T>G (p.Leu365Val) c.1246T>G (p.Leu416Val) c.1198T>G (p.Leu400Val) c.1081T>G (p.Leu361Val) c.1063T>G (p.Leu355Val) | dbSNP |
3 | g.69964916T= | CA1373413958 | MITF | c.1183T= (p.Leu395=) c.1180T= (p.Leu394=) n.1405T= c.1156T= (p.Leu386=) c.1116T= (p.Ile372=) c.1249T= (p.Leu417=) c.928T= (p.Leu310=) c.1228T= (p.Leu410=) c.1231T= (p.Leu411=) c.910T= (p.Leu304=) c.1075T= (p.Leu359=) c.*575T= (n.*575T=) c.742T= (p.Leu248=) c.1201T= (p.Leu401=) c.1093T= (p.Leu365=) c.1246T= (p.Leu416=) c.1198T= (p.Leu400=) c.1081T= (p.Leu361=) c.1063T= (p.Leu355=) | |
3 | g.69964917T>A | CA353559448 | MITF | c.1184T>A (p.Leu395Ter) c.1181T>A (p.Leu394Ter) n.1406T>A c.1157T>A (p.Leu386Ter) c.1117T>A (p.Trp373Arg) c.1250T>A (p.Leu417Ter) c.929T>A (p.Leu310Ter) c.1229T>A (p.Leu410Ter) c.1232T>A (p.Leu411Ter) c.911T>A (p.Leu304Ter) c.1076T>A (p.Leu359Ter) c.*576T>A (n.*576T>A) c.743T>A (p.Leu248Ter) c.1202T>A (p.Leu401Ter) c.1094T>A (p.Leu365Ter) c.1247T>A (p.Leu416Ter) c.1199T>A (p.Leu400Ter) c.1082T>A (p.Leu361Ter) c.1064T>A (p.Leu355Ter) | |
3 | g.69964917T>C | CA353559449 | MITF | c.1184T>C (p.Leu395Ser) c.1181T>C (p.Leu394Ser) n.1406T>C c.1157T>C (p.Leu386Ser) c.1117T>C (p.Trp373Arg) c.1250T>C (p.Leu417Ser) c.929T>C (p.Leu310Ser) c.1229T>C (p.Leu410Ser) c.1232T>C (p.Leu411Ser) c.911T>C (p.Leu304Ser) c.1076T>C (p.Leu359Ser) c.*576T>C (n.*576T>C) c.743T>C (p.Leu248Ser) c.1202T>C (p.Leu401Ser) c.1094T>C (p.Leu365Ser) c.1247T>C (p.Leu416Ser) c.1199T>C (p.Leu400Ser) c.1082T>C (p.Leu361Ser) c.1064T>C (p.Leu355Ser) | |
3 | g.69964917T>G | CA353559450 | MITF | c.1184T>G (p.Leu395Trp) c.1181T>G (p.Leu394Trp) n.1406T>G c.1157T>G (p.Leu386Trp) c.1117T>G (p.Trp373Gly) c.1250T>G (p.Leu417Trp) c.929T>G (p.Leu310Trp) c.1229T>G (p.Leu410Trp) c.1232T>G (p.Leu411Trp) c.911T>G (p.Leu304Trp) c.1076T>G (p.Leu359Trp) c.*576T>G (n.*576T>G) c.743T>G (p.Leu248Trp) c.1202T>G (p.Leu401Trp) c.1094T>G (p.Leu365Trp) c.1247T>G (p.Leu416Trp) c.1199T>G (p.Leu400Trp) c.1082T>G (p.Leu361Trp) c.1064T>G (p.Leu355Trp) | |
3 | g.69964918G>A | CA434433426 | MITF | c.1185G>A (p.Leu395=) c.1182G>A (p.Leu394=) n.1407G>A c.1158G>A (p.Leu386=) c.1118G>A (p.Trp373Ter) c.1251G>A (p.Leu417=) c.930G>A (p.Leu310=) c.1230G>A (p.Leu410=) c.1233G>A (p.Leu411=) c.912G>A (p.Leu304=) c.1077G>A (p.Leu359=) c.*577G>A (n.*577G>A) c.744G>A (p.Leu248=) c.1203G>A (p.Leu401=) c.1095G>A (p.Leu365=) c.1248G>A (p.Leu416=) c.1200G>A (p.Leu400=) c.1083G>A (p.Leu361=) c.1065G>A (p.Leu355=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69964918G>C | CA353559451 | MITF | c.1185G>C (p.Leu395Phe) c.1182G>C (p.Leu394Phe) n.1407G>C c.1158G>C (p.Leu386Phe) c.1118G>C (p.Trp373Ser) c.1251G>C (p.Leu417Phe) c.930G>C (p.Leu310Phe) c.1230G>C (p.Leu410Phe) c.1233G>C (p.Leu411Phe) c.912G>C (p.Leu304Phe) c.1077G>C (p.Leu359Phe) c.*577G>C (n.*577G>C) c.744G>C (p.Leu248Phe) c.1203G>C (p.Leu401Phe) c.1095G>C (p.Leu365Phe) c.1248G>C (p.Leu416Phe) c.1200G>C (p.Leu400Phe) c.1083G>C (p.Leu361Phe) c.1065G>C (p.Leu355Phe) | |
3 | g.69964918G= | CA1373413964 | MITF | c.1185G= (p.Leu395=) c.1182G= (p.Leu394=) n.1407G= c.1158G= (p.Leu386=) c.1118G= (p.Trp373=) c.1251G= (p.Leu417=) c.930G= (p.Leu310=) c.1230G= (p.Leu410=) c.1233G= (p.Leu411=) c.912G= (p.Leu304=) c.1077G= (p.Leu359=) c.*577G= (n.*577G=) c.744G= (p.Leu248=) c.1203G= (p.Leu401=) c.1095G= (p.Leu365=) c.1248G= (p.Leu416=) c.1200G= (p.Leu400=) c.1083G= (p.Leu361=) c.1065G= (p.Leu355=) | |
3 | g.69964918G>T | CA353559452 | MITF | c.1185G>T (p.Leu395Phe) c.1182G>T (p.Leu394Phe) n.1407G>T c.1158G>T (p.Leu386Phe) c.1118G>T (p.Trp373Leu) c.1251G>T (p.Leu417Phe) c.930G>T (p.Leu310Phe) c.1230G>T (p.Leu410Phe) c.1233G>T (p.Leu411Phe) c.912G>T (p.Leu304Phe) c.1077G>T (p.Leu359Phe) c.*577G>T (n.*577G>T) c.744G>T (p.Leu248Phe) c.1203G>T (p.Leu401Phe) c.1095G>T (p.Leu365Phe) c.1248G>T (p.Leu416Phe) c.1200G>T (p.Leu400Phe) c.1083G>T (p.Leu361Phe) c.1065G>T (p.Leu355Phe) | |
3 | g.69964919G>A | CA353559453 | MITF | c.1186G>A (p.Val396Met) c.1183G>A (p.Val395Met) n.1408G>A c.1159G>A (p.Val387Met) c.1119G>A (p.Trp373Ter) c.1252G>A (p.Val418Met) c.931G>A (p.Val311Met) c.1231G>A (p.Val411Met) c.1234G>A (p.Val412Met) c.913G>A (p.Val305Met) c.1078G>A (p.Val360Met) c.*578G>A (n.*578G>A) c.745G>A (p.Val249Met) c.1204G>A (p.Val402Met) c.1096G>A (p.Val366Met) c.1249G>A (p.Val417Met) c.1201G>A (p.Val401Met) c.1084G>A (p.Val362Met) c.1066G>A (p.Val356Met) | gnomAD v4 |
3 | g.69964919G>C | CA353559454 | MITF | c.1186G>C (p.Val396Leu) c.1183G>C (p.Val395Leu) n.1408G>C c.1159G>C (p.Val387Leu) c.1119G>C (p.Trp373Cys) c.1252G>C (p.Val418Leu) c.931G>C (p.Val311Leu) c.1231G>C (p.Val411Leu) c.1234G>C (p.Val412Leu) c.913G>C (p.Val305Leu) c.1078G>C (p.Val360Leu) c.*578G>C (n.*578G>C) c.745G>C (p.Val249Leu) c.1204G>C (p.Val402Leu) c.1096G>C (p.Val366Leu) c.1249G>C (p.Val417Leu) c.1201G>C (p.Val401Leu) c.1084G>C (p.Val362Leu) c.1066G>C (p.Val356Leu) | |
3 | g.69964919G>T | CA353559455 | MITF | c.1186G>T (p.Val396Leu) c.1183G>T (p.Val395Leu) n.1408G>T c.1159G>T (p.Val387Leu) c.1119G>T (p.Trp373Cys) c.1252G>T (p.Val418Leu) c.931G>T (p.Val311Leu) c.1231G>T (p.Val411Leu) c.1234G>T (p.Val412Leu) c.913G>T (p.Val305Leu) c.1078G>T (p.Val360Leu) c.*578G>T (n.*578G>T) c.745G>T (p.Val249Leu) c.1204G>T (p.Val402Leu) c.1096G>T (p.Val366Leu) c.1249G>T (p.Val417Leu) c.1201G>T (p.Val401Leu) c.1084G>T (p.Val362Leu) c.1066G>T (p.Val356Leu) | |
3 | g.69964920T>A | CA353559456 | MITF | c.1187T>A (p.Val396Glu) c.1184T>A (p.Val395Glu) n.1409T>A c.1160T>A (p.Val387Glu) c.1120T>A (p.Ter374Arg) c.1253T>A (p.Val418Glu) c.932T>A (p.Val311Glu) c.1232T>A (p.Val411Glu) c.1235T>A (p.Val412Glu) c.914T>A (p.Val305Glu) c.1079T>A (p.Val360Glu) c.*579T>A (n.*579T>A) c.746T>A (p.Val249Glu) c.1205T>A (p.Val402Glu) c.1097T>A (p.Val366Glu) c.1250T>A (p.Val417Glu) c.1202T>A (p.Val401Glu) c.1085T>A (p.Val362Glu) c.1067T>A (p.Val356Glu) | |
3 | g.69964920T>C | CA353559458 | MITF | c.1187T>C (p.Val396Ala) c.1184T>C (p.Val395Ala) n.1409T>C c.1160T>C (p.Val387Ala) c.1120T>C (p.Ter374Arg) c.1253T>C (p.Val418Ala) c.932T>C (p.Val311Ala) c.1232T>C (p.Val411Ala) c.1235T>C (p.Val412Ala) c.914T>C (p.Val305Ala) c.1079T>C (p.Val360Ala) c.*579T>C (n.*579T>C) c.746T>C (p.Val249Ala) c.1205T>C (p.Val402Ala) c.1097T>C (p.Val366Ala) c.1250T>C (p.Val417Ala) c.1202T>C (p.Val401Ala) c.1085T>C (p.Val362Ala) c.1067T>C (p.Val356Ala) | ClinVar |
3 | g.69964920T>G | CA353559457 | MITF | c.1187T>G (p.Val396Gly) c.1184T>G (p.Val395Gly) n.1409T>G c.1160T>G (p.Val387Gly) c.1120T>G (p.Ter374Gly) c.1253T>G (p.Val418Gly) c.932T>G (p.Val311Gly) c.1232T>G (p.Val411Gly) c.1235T>G (p.Val412Gly) c.914T>G (p.Val305Gly) c.1079T>G (p.Val360Gly) c.*579T>G (n.*579T>G) c.746T>G (p.Val249Gly) c.1205T>G (p.Val402Gly) c.1097T>G (p.Val366Gly) c.1250T>G (p.Val417Gly) c.1202T>G (p.Val401Gly) c.1085T>G (p.Val362Gly) c.1067T>G (p.Val356Gly) | |
3 | g.69964920_69964923delinsTGAA | CA1373413966 | MITF | c.1187_1190delinsTGAA (p.Val396=) c.1184_1187delinsTGAA (p.Val395=) n.1409_1412delinsTGAA c.1160_1163delinsTGAA (p.Val387=) c.1120_*1delinsTGAA (n.[c.1120_*1delinsTGAA;Ter374=]) c.1253_1256delinsTGAA (p.Val418=) c.932_935delinsTGAA (p.Val311=) c.1232_1235delinsTGAA (p.Val411=) c.1235_1238delinsTGAA (p.Val412=) c.914_917delinsTGAA (p.Val305=) c.1079_1082delinsTGAA (p.Val360=) c.*579_*582delinsTGAA (n.*579_*582delinsTGAA) c.746_749delinsTGAA (p.Val249=) c.1205_1208delinsTGAA (p.Val402=) c.1097_1100delinsTGAA (p.Val366=) c.1250_1253delinsTGAA (p.Val417=) c.1202_1205delinsTGAA (p.Val401=) c.1085_1088delinsTGAA (p.Val362=) c.1067_1070delinsTGAA (p.Val356=) | |
3 | g.69964921G>A | CA434433428 | MITF | c.1188G>A (p.Val396=) c.1185G>A (p.Val395=) n.1410G>A c.1161G>A (p.Val387=) c.1121G>A (p.Ter374=) c.1254G>A (p.Val418=) c.933G>A (p.Val311=) c.1233G>A (p.Val411=) c.1236G>A (p.Val412=) c.915G>A (p.Val305=) c.1080G>A (p.Val360=) c.*580G>A (n.*580G>A) c.747G>A (p.Val249=) c.1206G>A (p.Val402=) c.1098G>A (p.Val366=) c.1251G>A (p.Val417=) c.1203G>A (p.Val401=) c.1086G>A (p.Val362=) c.1068G>A (p.Val356=) | dbSNP |
3 | g.69964921G>C | CA434433429 | MITF | c.1188G>C (p.Val396=) c.1185G>C (p.Val395=) n.1410G>C c.1161G>C (p.Val387=) c.1121G>C (p.Ter374Ser) c.1254G>C (p.Val418=) c.933G>C (p.Val311=) c.1233G>C (p.Val411=) c.1236G>C (p.Val412=) c.915G>C (p.Val305=) c.1080G>C (p.Val360=) c.*580G>C (n.*580G>C) c.747G>C (p.Val249=) c.1206G>C (p.Val402=) c.1098G>C (p.Val366=) c.1251G>C (p.Val417=) c.1203G>C (p.Val401=) c.1086G>C (p.Val362=) c.1068G>C (p.Val356=) | |
3 | g.69964921G= | CA1373413968 | MITF | c.1188G= (p.Val396=) c.1185G= (p.Val395=) n.1410G= c.1161G= (p.Val387=) c.1121G= (p.Ter374=) c.1254G= (p.Val418=) c.933G= (p.Val311=) c.1233G= (p.Val411=) c.1236G= (p.Val412=) c.915G= (p.Val305=) c.1080G= (p.Val360=) c.*580G= (n.*580G=) c.747G= (p.Val249=) c.1206G= (p.Val402=) c.1098G= (p.Val366=) c.1251G= (p.Val417=) c.1203G= (p.Val401=) c.1086G= (p.Val362=) c.1068G= (p.Val356=) | |
3 | g.69964921G>T | CA434433430 | MITF | c.1188G>T (p.Val396=) c.1185G>T (p.Val395=) n.1410G>T c.1161G>T (p.Val387=) c.1121G>T (p.Ter374Leu) c.1254G>T (p.Val418=) c.933G>T (p.Val311=) c.1233G>T (p.Val411=) c.1236G>T (p.Val412=) c.915G>T (p.Val305=) c.1080G>T (p.Val360=) c.*580G>T (n.*580G>T) c.747G>T (p.Val249=) c.1206G>T (p.Val402=) c.1098G>T (p.Val366=) c.1251G>T (p.Val417=) c.1203G>T (p.Val401=) c.1086G>T (p.Val362=) c.1068G>T (p.Val356=) | |
3 | g.69964921_69964923del | CA544006178 | MITF | c.1188_1190del (p.Asn397del) c.1185_1187del (p.Asn396del) n.1410_1412del c.1161_1163del (p.Asn388del) c.1121_*1del (n.[c.1121_*1del;Ter374PheextTer24]) c.1254_1256del (p.Asn419del) c.933_935del (p.Asn312del) c.1233_1235del (p.Asn412del) c.1236_1238del (p.Asn413del) c.915_917del (p.Asn306del) c.1080_1082del (p.Asn361del) c.*580_*582del (n.*580_*582del) c.747_749del (p.Asn250del) c.1206_1208del (p.Asn403del) c.1098_1100del (p.Asn367del) c.1251_1253del (p.Asn418del) c.1203_1205del (p.Asn402del) c.1086_1088del (p.Asn363del) c.1068_1070del (p.Asn357del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69964922A>C | CA353559459 | MITF | c.1189A>C (p.Asn397His) c.1186A>C (p.Asn396His) n.1411A>C c.1162A>C (p.Asn388His) c.1122A>C (p.Ter374Cys) c.1255A>C (p.Asn419His) c.934A>C (p.Asn312His) c.1234A>C (p.Asn412His) c.1237A>C (p.Asn413His) c.916A>C (p.Asn306His) c.1081A>C (p.Asn361His) c.*581A>C (n.*581A>C) c.748A>C (p.Asn250His) c.1207A>C (p.Asn403His) c.1099A>C (p.Asn367His) c.1252A>C (p.Asn418His) c.1204A>C (p.Asn402His) c.1087A>C (p.Asn363His) c.1069A>C (p.Asn357His) | |
3 | g.69964922A>G | CA353559460 | MITF | c.1189A>G (p.Asn397Asp) c.1186A>G (p.Asn396Asp) n.1411A>G c.1162A>G (p.Asn388Asp) c.1122A>G (p.Ter374Trp) c.1255A>G (p.Asn419Asp) c.934A>G (p.Asn312Asp) c.1234A>G (p.Asn412Asp) c.1237A>G (p.Asn413Asp) c.916A>G (p.Asn306Asp) c.1081A>G (p.Asn361Asp) c.*581A>G (n.*581A>G) c.748A>G (p.Asn250Asp) c.1207A>G (p.Asn403Asp) c.1099A>G (p.Asn367Asp) c.1252A>G (p.Asn418Asp) c.1204A>G (p.Asn402Asp) c.1087A>G (p.Asn363Asp) c.1069A>G (p.Asn357Asp) | |
3 | g.69964922A>T | CA353559461 | MITF | c.1189A>T (p.Asn397Tyr) c.1186A>T (p.Asn396Tyr) n.1411A>T c.1162A>T (p.Asn388Tyr) c.1122A>T (p.Ter374Cys) c.1255A>T (p.Asn419Tyr) c.934A>T (p.Asn312Tyr) c.1234A>T (p.Asn412Tyr) c.1237A>T (p.Asn413Tyr) c.916A>T (p.Asn306Tyr) c.1081A>T (p.Asn361Tyr) c.*581A>T (n.*581A>T) c.748A>T (p.Asn250Tyr) c.1207A>T (p.Asn403Tyr) c.1099A>T (p.Asn367Tyr) c.1252A>T (p.Asn418Tyr) c.1204A>T (p.Asn402Tyr) c.1087A>T (p.Asn363Tyr) c.1069A>T (p.Asn357Tyr) | |
3 | g.69964923A>C | CA353559462 | MITF | c.1190A>C (p.Asn397Thr) c.1187A>C (p.Asn396Thr) n.1412A>C c.1163A>C (p.Asn388Thr) c.*1A>C (n.*1A>C) c.1256A>C (p.Asn419Thr) c.935A>C (p.Asn312Thr) c.1235A>C (p.Asn412Thr) c.1238A>C (p.Asn413Thr) c.917A>C (p.Asn306Thr) c.1082A>C (p.Asn361Thr) c.*582A>C (n.*582A>C) c.749A>C (p.Asn250Thr) c.1208A>C (p.Asn403Thr) c.1100A>C (p.Asn367Thr) c.1253A>C (p.Asn418Thr) c.1205A>C (p.Asn402Thr) c.1088A>C (p.Asn363Thr) c.1070A>C (p.Asn357Thr) | |
3 | g.69964923A>G | CA353559463 | MITF | c.1190A>G (p.Asn397Ser) c.1187A>G (p.Asn396Ser) n.1412A>G c.1163A>G (p.Asn388Ser) c.*1A>G (n.*1A>G) c.1256A>G (p.Asn419Ser) c.935A>G (p.Asn312Ser) c.1235A>G (p.Asn412Ser) c.1238A>G (p.Asn413Ser) c.917A>G (p.Asn306Ser) c.1082A>G (p.Asn361Ser) c.*582A>G (n.*582A>G) c.749A>G (p.Asn250Ser) c.1208A>G (p.Asn403Ser) c.1100A>G (p.Asn367Ser) c.1253A>G (p.Asn418Ser) c.1205A>G (p.Asn402Ser) c.1088A>G (p.Asn363Ser) c.1070A>G (p.Asn357Ser) | dbSNP |
3 | g.69964923A>T | CA353559464 | MITF | c.1190A>T (p.Asn397Ile) c.1187A>T (p.Asn396Ile) n.1412A>T c.1163A>T (p.Asn388Ile) c.*1A>T (n.*1A>T) c.1256A>T (p.Asn419Ile) c.935A>T (p.Asn312Ile) c.1235A>T (p.Asn412Ile) c.1238A>T (p.Asn413Ile) c.917A>T (p.Asn306Ile) c.1082A>T (p.Asn361Ile) c.*582A>T (n.*582A>T) c.749A>T (p.Asn250Ile) c.1208A>T (p.Asn403Ile) c.1100A>T (p.Asn367Ile) c.1253A>T (p.Asn418Ile) c.1205A>T (p.Asn402Ile) c.1088A>T (p.Asn363Ile) c.1070A>T (p.Asn357Ile) | |
3 | g.69964924T>A | CA353559465 | MITF | c.1191T>A (p.Asn397Lys) c.1188T>A (p.Asn396Lys) n.1413T>A c.1164T>A (p.Asn388Lys) c.*2T>A (n.*2T>A) c.1257T>A (p.Asn419Lys) c.936T>A (p.Asn312Lys) c.1236T>A (p.Asn412Lys) c.1239T>A (p.Asn413Lys) c.918T>A (p.Asn306Lys) c.1083T>A (p.Asn361Lys) c.*583T>A (n.*583T>A) c.750T>A (p.Asn250Lys) c.1209T>A (p.Asn403Lys) c.1101T>A (p.Asn367Lys) c.1254T>A (p.Asn418Lys) c.1206T>A (p.Asn402Lys) c.1089T>A (p.Asn363Lys) c.1071T>A (p.Asn357Lys) | |
3 | g.69964924T>C | CA434433432 | MITF | c.1191T>C (p.Asn397=) c.1188T>C (p.Asn396=) n.1413T>C c.1164T>C (p.Asn388=) c.*2T>C (n.*2T>C) c.1257T>C (p.Asn419=) c.936T>C (p.Asn312=) c.1236T>C (p.Asn412=) c.1239T>C (p.Asn413=) c.918T>C (p.Asn306=) c.1083T>C (p.Asn361=) c.*583T>C (n.*583T>C) c.750T>C (p.Asn250=) c.1209T>C (p.Asn403=) c.1101T>C (p.Asn367=) c.1254T>C (p.Asn418=) c.1206T>C (p.Asn402=) c.1089T>C (p.Asn363=) c.1071T>C (p.Asn357=) | |
3 | g.69964924T>G | CA353559466 | MITF | c.1191T>G (p.Asn397Lys) c.1188T>G (p.Asn396Lys) n.1413T>G c.1164T>G (p.Asn388Lys) c.*2T>G (n.*2T>G) c.1257T>G (p.Asn419Lys) c.936T>G (p.Asn312Lys) c.1236T>G (p.Asn412Lys) c.1239T>G (p.Asn413Lys) c.918T>G (p.Asn306Lys) c.1083T>G (p.Asn361Lys) c.*583T>G (n.*583T>G) c.750T>G (p.Asn250Lys) c.1209T>G (p.Asn403Lys) c.1101T>G (p.Asn367Lys) c.1254T>G (p.Asn418Lys) c.1206T>G (p.Asn402Lys) c.1089T>G (p.Asn363Lys) c.1071T>G (p.Asn357Lys) | |
3 | g.69964925C>A | CA434433433 | MITF | c.1192C>A (p.Arg398=) c.1189C>A (p.Arg397=) n.1414C>A c.1165C>A (p.Arg389=) c.*3C>A (n.*3C>A) c.1258C>A (p.Arg420=) c.937C>A (p.Arg313=) c.1237C>A (p.Arg413=) c.1240C>A (p.Arg414=) c.919C>A (p.Arg307=) c.1084C>A (p.Arg362=) c.*584C>A (n.*584C>A) c.751C>A (p.Arg251=) c.1210C>A (p.Arg404=) c.1102C>A (p.Arg368=) c.1255C>A (p.Arg419=) c.1207C>A (p.Arg403=) c.1090C>A (p.Arg364=) c.1072C>A (p.Arg358=) | dbSNP |
3 | g.69964925C= | CA1373413973 | MITF | c.1192C= (p.Arg398=) c.1189C= (p.Arg397=) n.1414C= c.1165C= (p.Arg389=) c.*3C= (n.*3C=) c.1258C= (p.Arg420=) c.937C= (p.Arg313=) c.1237C= (p.Arg413=) c.1240C= (p.Arg414=) c.919C= (p.Arg307=) c.1084C= (p.Arg362=) c.*584C= (n.*584C=) c.751C= (p.Arg251=) c.1210C= (p.Arg404=) c.1102C= (p.Arg368=) c.1255C= (p.Arg419=) c.1207C= (p.Arg403=) c.1090C= (p.Arg364=) c.1072C= (p.Arg358=) | |
3 | g.69964925C>G | CA353559467 | MITF | c.1192C>G (p.Arg398Gly) c.1189C>G (p.Arg397Gly) n.1414C>G c.1165C>G (p.Arg389Gly) c.*3C>G (n.*3C>G) c.1258C>G (p.Arg420Gly) c.937C>G (p.Arg313Gly) c.1237C>G (p.Arg413Gly) c.1240C>G (p.Arg414Gly) c.919C>G (p.Arg307Gly) c.1084C>G (p.Arg362Gly) c.*584C>G (n.*584C>G) c.751C>G (p.Arg251Gly) c.1210C>G (p.Arg404Gly) c.1102C>G (p.Arg368Gly) c.1255C>G (p.Arg419Gly) c.1207C>G (p.Arg403Gly) c.1090C>G (p.Arg364Gly) c.1072C>G (p.Arg358Gly) | |
3 | g.69964925C>T | CA2490629 | MITF | c.1192C>T (p.Arg398Trp) c.1189C>T (p.Arg397Trp) n.1414C>T c.1165C>T (p.Arg389Trp) c.*3C>T (n.*3C>T) c.1258C>T (p.Arg420Trp) c.937C>T (p.Arg313Trp) c.1237C>T (p.Arg413Trp) c.1240C>T (p.Arg414Trp) c.919C>T (p.Arg307Trp) c.1084C>T (p.Arg362Trp) c.*584C>T (n.*584C>T) c.751C>T (p.Arg251Trp) c.1210C>T (p.Arg404Trp) c.1102C>T (p.Arg368Trp) c.1255C>T (p.Arg419Trp) c.1207C>T (p.Arg403Trp) c.1090C>T (p.Arg364Trp) c.1072C>T (p.Arg358Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.69964926G>A | CA10619393 | MITF | c.1193G>A (p.Arg398Gln) c.1190G>A (p.Arg397Gln) n.1415G>A c.1166G>A (p.Arg389Gln) c.*4G>A (n.*4G>A) c.1259G>A (p.Arg420Gln) c.938G>A (p.Arg313Gln) c.1238G>A (p.Arg413Gln) c.1241G>A (p.Arg414Gln) c.920G>A (p.Arg307Gln) c.1085G>A (p.Arg362Gln) c.*585G>A (n.*585G>A) c.752G>A (p.Arg251Gln) c.1211G>A (p.Arg404Gln) c.1103G>A (p.Arg368Gln) c.1256G>A (p.Arg419Gln) c.1208G>A (p.Arg403Gln) c.1091G>A (p.Arg364Gln) c.1073G>A (p.Arg358Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964926G>C | CA353559468 | MITF | c.1193G>C (p.Arg398Pro) c.1190G>C (p.Arg397Pro) n.1415G>C c.1166G>C (p.Arg389Pro) c.*4G>C (n.*4G>C) c.1259G>C (p.Arg420Pro) c.938G>C (p.Arg313Pro) c.1238G>C (p.Arg413Pro) c.1241G>C (p.Arg414Pro) c.920G>C (p.Arg307Pro) c.1085G>C (p.Arg362Pro) c.*585G>C (n.*585G>C) c.752G>C (p.Arg251Pro) c.1211G>C (p.Arg404Pro) c.1103G>C (p.Arg368Pro) c.1256G>C (p.Arg419Pro) c.1208G>C (p.Arg403Pro) c.1091G>C (p.Arg364Pro) c.1073G>C (p.Arg358Pro) | |
3 | g.69964926G= | CA1373413984 | MITF | c.1193G= (p.Arg398=) c.1190G= (p.Arg397=) n.1415G= c.1166G= (p.Arg389=) c.*4G= (n.*4G=) c.1259G= (p.Arg420=) c.938G= (p.Arg313=) c.1238G= (p.Arg413=) c.1241G= (p.Arg414=) c.920G= (p.Arg307=) c.1085G= (p.Arg362=) c.*585G= (n.*585G=) c.752G= (p.Arg251=) c.1211G= (p.Arg404=) c.1103G= (p.Arg368=) c.1256G= (p.Arg419=) c.1208G= (p.Arg403=) c.1091G= (p.Arg364=) c.1073G= (p.Arg358=) | |
3 | g.69964926G>T | CA353559469 | MITF | c.1193G>T (p.Arg398Leu) c.1190G>T (p.Arg397Leu) n.1415G>T c.1166G>T (p.Arg389Leu) c.*4G>T (n.*4G>T) c.1259G>T (p.Arg420Leu) c.938G>T (p.Arg313Leu) c.1238G>T (p.Arg413Leu) c.1241G>T (p.Arg414Leu) c.920G>T (p.Arg307Leu) c.1085G>T (p.Arg362Leu) c.*585G>T (n.*585G>T) c.752G>T (p.Arg251Leu) c.1211G>T (p.Arg404Leu) c.1103G>T (p.Arg368Leu) c.1256G>T (p.Arg419Leu) c.1208G>T (p.Arg403Leu) c.1091G>T (p.Arg364Leu) c.1073G>T (p.Arg358Leu) | |
3 | g.69964927G>A | CA434433437 | MITF | c.1194G>A (p.Arg398=) c.1191G>A (p.Arg397=) n.1416G>A c.1167G>A (p.Arg389=) c.*5G>A (n.*5G>A) c.1260G>A (p.Arg420=) c.939G>A (p.Arg313=) c.1239G>A (p.Arg413=) c.1242G>A (p.Arg414=) c.921G>A (p.Arg307=) c.1086G>A (p.Arg362=) c.*586G>A (n.*586G>A) c.753G>A (p.Arg251=) c.1212G>A (p.Arg404=) c.1104G>A (p.Arg368=) c.1257G>A (p.Arg419=) c.1209G>A (p.Arg403=) c.1092G>A (p.Arg364=) c.1074G>A (p.Arg358=) | dbSNP gnomAD v4 |
3 | g.69964927G>C | CA434433438 | MITF | c.1194G>C (p.Arg398=) c.1191G>C (p.Arg397=) n.1416G>C c.1167G>C (p.Arg389=) c.*5G>C (n.*5G>C) c.1260G>C (p.Arg420=) c.939G>C (p.Arg313=) c.1239G>C (p.Arg413=) c.1242G>C (p.Arg414=) c.921G>C (p.Arg307=) c.1086G>C (p.Arg362=) c.*586G>C (n.*586G>C) c.753G>C (p.Arg251=) c.1212G>C (p.Arg404=) c.1104G>C (p.Arg368=) c.1257G>C (p.Arg419=) c.1209G>C (p.Arg403=) c.1092G>C (p.Arg364=) c.1074G>C (p.Arg358=) | |
3 | g.69964927G>T | CA434433439 | MITF | c.1194G>T (p.Arg398=) c.1191G>T (p.Arg397=) n.1416G>T c.1167G>T (p.Arg389=) c.*5G>T (n.*5G>T) c.1260G>T (p.Arg420=) c.939G>T (p.Arg313=) c.1239G>T (p.Arg413=) c.1242G>T (p.Arg414=) c.921G>T (p.Arg307=) c.1086G>T (p.Arg362=) c.*586G>T (n.*586G>T) c.753G>T (p.Arg251=) c.1212G>T (p.Arg404=) c.1104G>T (p.Arg368=) c.1257G>T (p.Arg419=) c.1209G>T (p.Arg403=) c.1092G>T (p.Arg364=) c.1074G>T (p.Arg358=) | |
3 | g.69964928A>C | CA353559472 | MITF | c.1195A>C (p.Ile399Leu) c.1192A>C (p.Ile398Leu) n.1417A>C c.1168A>C (p.Ile390Leu) c.*6A>C (n.*6A>C) c.1261A>C (p.Ile421Leu) c.940A>C (p.Ile314Leu) c.1240A>C (p.Ile414Leu) c.1243A>C (p.Ile415Leu) c.922A>C (p.Ile308Leu) c.1087A>C (p.Ile363Leu) c.*587A>C (n.*587A>C) c.754A>C (p.Ile252Leu) c.1213A>C (p.Ile405Leu) c.1105A>C (p.Ile369Leu) c.1258A>C (p.Ile420Leu) c.1210A>C (p.Ile404Leu) c.1093A>C (p.Ile365Leu) c.1075A>C (p.Ile359Leu) | |
3 | g.69964928A>G | CA353559470 | MITF | c.1195A>G (p.Ile399Val) c.1192A>G (p.Ile398Val) n.1417A>G c.1168A>G (p.Ile390Val) c.*6A>G (n.*6A>G) c.1261A>G (p.Ile421Val) c.940A>G (p.Ile314Val) c.1240A>G (p.Ile414Val) c.1243A>G (p.Ile415Val) c.922A>G (p.Ile308Val) c.1087A>G (p.Ile363Val) c.*587A>G (n.*587A>G) c.754A>G (p.Ile252Val) c.1213A>G (p.Ile405Val) c.1105A>G (p.Ile369Val) c.1258A>G (p.Ile420Val) c.1210A>G (p.Ile404Val) c.1093A>G (p.Ile365Val) c.1075A>G (p.Ile359Val) | |
3 | g.69964928A>T | CA353559471 | MITF | c.1195A>T (p.Ile399Phe) c.1192A>T (p.Ile398Phe) n.1417A>T c.1168A>T (p.Ile390Phe) c.*6A>T (n.*6A>T) c.1261A>T (p.Ile421Phe) c.940A>T (p.Ile314Phe) c.1240A>T (p.Ile414Phe) c.1243A>T (p.Ile415Phe) c.922A>T (p.Ile308Phe) c.1087A>T (p.Ile363Phe) c.*587A>T (n.*587A>T) c.754A>T (p.Ile252Phe) c.1213A>T (p.Ile405Phe) c.1105A>T (p.Ile369Phe) c.1258A>T (p.Ile420Phe) c.1210A>T (p.Ile404Phe) c.1093A>T (p.Ile365Phe) c.1075A>T (p.Ile359Phe) | |
3 | g.69964932_69964934del | CA2586972655 | MITF | c.1199_1201del (p.Ile400del) c.1196_1198del (p.Ile399del) n.1421_1423del c.1172_1174del (p.Ile391del) c.*10_*12del (n.*10_*12del) c.1265_1267del (p.Ile422del) c.944_946del (p.Ile315del) c.1244_1246del (p.Ile415del) c.1247_1249del (p.Ile416del) c.926_928del (p.Ile309del) c.1091_1093del (p.Ile364del) c.*591_*593del (n.*591_*593del) c.758_760del (p.Ile253del) c.1217_1219del (p.Ile406del) c.1109_1111del (p.Ile370del) c.1262_1264del (p.Ile421del) c.1214_1216del (p.Ile405del) c.1097_1099del (p.Ile366del) c.1079_1081del (p.Ile360del) | |
3 | g.69964929T>A | CA353559473 | MITF | c.1196T>A (p.Ile399Asn) c.1193T>A (p.Ile398Asn) n.1418T>A c.1169T>A (p.Ile390Asn) c.*7T>A (n.*7T>A) c.1262T>A (p.Ile421Asn) c.941T>A (p.Ile314Asn) c.1241T>A (p.Ile414Asn) c.1244T>A (p.Ile415Asn) c.923T>A (p.Ile308Asn) c.1088T>A (p.Ile363Asn) c.*588T>A (n.*588T>A) c.755T>A (p.Ile252Asn) c.1214T>A (p.Ile405Asn) c.1106T>A (p.Ile369Asn) c.1259T>A (p.Ile420Asn) c.1211T>A (p.Ile404Asn) c.1094T>A (p.Ile365Asn) c.1076T>A (p.Ile359Asn) | |
3 | g.69964929T>C | CA2490630 | MITF | c.1196T>C (p.Ile399Thr) c.1193T>C (p.Ile398Thr) n.1418T>C c.1169T>C (p.Ile390Thr) c.*7T>C (n.*7T>C) c.1262T>C (p.Ile421Thr) c.941T>C (p.Ile314Thr) c.1241T>C (p.Ile414Thr) c.1244T>C (p.Ile415Thr) c.923T>C (p.Ile308Thr) c.1088T>C (p.Ile363Thr) c.*588T>C (n.*588T>C) c.755T>C (p.Ile252Thr) c.1214T>C (p.Ile405Thr) c.1106T>C (p.Ile369Thr) c.1259T>C (p.Ile420Thr) c.1211T>C (p.Ile404Thr) c.1094T>C (p.Ile365Thr) c.1076T>C (p.Ile359Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69964929T>G | CA353559474 | MITF | c.1196T>G (p.Ile399Ser) c.1193T>G (p.Ile398Ser) n.1418T>G c.1169T>G (p.Ile390Ser) c.*7T>G (n.*7T>G) c.1262T>G (p.Ile421Ser) c.941T>G (p.Ile314Ser) c.1241T>G (p.Ile414Ser) c.1244T>G (p.Ile415Ser) c.923T>G (p.Ile308Ser) c.1088T>G (p.Ile363Ser) c.*588T>G (n.*588T>G) c.755T>G (p.Ile252Ser) c.1214T>G (p.Ile405Ser) c.1106T>G (p.Ile369Ser) c.1259T>G (p.Ile420Ser) c.1211T>G (p.Ile404Ser) c.1094T>G (p.Ile365Ser) c.1076T>G (p.Ile359Ser) | |
3 | g.69964929T= | CA1373413994 | MITF | c.1196T= (p.Ile399=) c.1193T= (p.Ile398=) n.1418T= c.1169T= (p.Ile390=) c.*7T= (n.*7T=) c.1262T= (p.Ile421=) c.941T= (p.Ile314=) c.1241T= (p.Ile414=) c.1244T= (p.Ile415=) c.923T= (p.Ile308=) c.1088T= (p.Ile363=) c.*588T= (n.*588T=) c.755T= (p.Ile252=) c.1214T= (p.Ile405=) c.1106T= (p.Ile369=) c.1259T= (p.Ile420=) c.1211T= (p.Ile404=) c.1094T= (p.Ile365=) c.1076T= (p.Ile359=) | |
3 | g.69964930C>A | CA434433443 | MITF | c.1197C>A (p.Ile399=) c.1194C>A (p.Ile398=) n.1419C>A c.1170C>A (p.Ile390=) c.*8C>A (n.*8C>A) c.1263C>A (p.Ile421=) c.942C>A (p.Ile314=) c.1242C>A (p.Ile414=) c.1245C>A (p.Ile415=) c.924C>A (p.Ile308=) c.1089C>A (p.Ile363=) c.*589C>A (n.*589C>A) c.756C>A (p.Ile252=) c.1215C>A (p.Ile405=) c.1107C>A (p.Ile369=) c.1260C>A (p.Ile420=) c.1212C>A (p.Ile404=) c.1095C>A (p.Ile365=) c.1077C>A (p.Ile359=) | |
3 | g.69964930C>G | CA353559475 | MITF | c.1197C>G (p.Ile399Met) c.1194C>G (p.Ile398Met) n.1419C>G c.1170C>G (p.Ile390Met) c.*8C>G (n.*8C>G) c.1263C>G (p.Ile421Met) c.942C>G (p.Ile314Met) c.1242C>G (p.Ile414Met) c.1245C>G (p.Ile415Met) c.924C>G (p.Ile308Met) c.1089C>G (p.Ile363Met) c.*589C>G (n.*589C>G) c.756C>G (p.Ile252Met) c.1215C>G (p.Ile405Met) c.1107C>G (p.Ile369Met) c.1260C>G (p.Ile420Met) c.1212C>G (p.Ile404Met) c.1095C>G (p.Ile365Met) c.1077C>G (p.Ile359Met) | |
3 | g.69964930C>T | CA434433444 | MITF | c.1197C>T (p.Ile399=) c.1194C>T (p.Ile398=) n.1419C>T c.1170C>T (p.Ile390=) c.*8C>T (n.*8C>T) c.1263C>T (p.Ile421=) c.942C>T (p.Ile314=) c.1242C>T (p.Ile414=) c.1245C>T (p.Ile415=) c.924C>T (p.Ile308=) c.1089C>T (p.Ile363=) c.*589C>T (n.*589C>T) c.756C>T (p.Ile252=) c.1215C>T (p.Ile405=) c.1107C>T (p.Ile369=) c.1260C>T (p.Ile420=) c.1212C>T (p.Ile404=) c.1095C>T (p.Ile365=) c.1077C>T (p.Ile359=) | |
3 | g.69964931A>C | CA353559476 | MITF | c.1198A>C (p.Ile400Leu) c.1195A>C (p.Ile399Leu) n.1420A>C c.1171A>C (p.Ile391Leu) c.*9A>C (n.*9A>C) c.1264A>C (p.Ile422Leu) c.943A>C (p.Ile315Leu) c.1243A>C (p.Ile415Leu) c.1246A>C (p.Ile416Leu) c.925A>C (p.Ile309Leu) c.1090A>C (p.Ile364Leu) c.*590A>C (n.*590A>C) c.757A>C (p.Ile253Leu) c.1216A>C (p.Ile406Leu) c.1108A>C (p.Ile370Leu) c.1261A>C (p.Ile421Leu) c.1213A>C (p.Ile405Leu) c.1096A>C (p.Ile366Leu) c.1078A>C (p.Ile360Leu) | |
3 | g.69964931A>G | CA353559477 | MITF | c.1198A>G (p.Ile400Val) c.1195A>G (p.Ile399Val) n.1420A>G c.1171A>G (p.Ile391Val) c.*9A>G (n.*9A>G) c.1264A>G (p.Ile422Val) c.943A>G (p.Ile315Val) c.1243A>G (p.Ile415Val) c.1246A>G (p.Ile416Val) c.925A>G (p.Ile309Val) c.1090A>G (p.Ile364Val) c.*590A>G (n.*590A>G) c.757A>G (p.Ile253Val) c.1216A>G (p.Ile406Val) c.1108A>G (p.Ile370Val) c.1261A>G (p.Ile421Val) c.1213A>G (p.Ile405Val) c.1096A>G (p.Ile366Val) c.1078A>G (p.Ile360Val) | dbSNP |
3 | g.69964931A>T | CA353559478 | MITF | c.1198A>T (p.Ile400Phe) c.1195A>T (p.Ile399Phe) n.1420A>T c.1171A>T (p.Ile391Phe) c.*9A>T (n.*9A>T) c.1264A>T (p.Ile422Phe) c.943A>T (p.Ile315Phe) c.1243A>T (p.Ile415Phe) c.1246A>T (p.Ile416Phe) c.925A>T (p.Ile309Phe) c.1090A>T (p.Ile364Phe) c.*590A>T (n.*590A>T) c.757A>T (p.Ile253Phe) c.1216A>T (p.Ile406Phe) c.1108A>T (p.Ile370Phe) c.1261A>T (p.Ile421Phe) c.1213A>T (p.Ile405Phe) c.1096A>T (p.Ile366Phe) c.1078A>T (p.Ile360Phe) | |
3 | g.69964932T>A | CA353559479 | MITF | c.1199T>A (p.Ile400Asn) c.1196T>A (p.Ile399Asn) n.1421T>A c.1172T>A (p.Ile391Asn) c.*10T>A (n.*10T>A) c.1265T>A (p.Ile422Asn) c.944T>A (p.Ile315Asn) c.1244T>A (p.Ile415Asn) c.1247T>A (p.Ile416Asn) c.926T>A (p.Ile309Asn) c.1091T>A (p.Ile364Asn) c.*591T>A (n.*591T>A) c.758T>A (p.Ile253Asn) c.1217T>A (p.Ile406Asn) c.1109T>A (p.Ile370Asn) c.1262T>A (p.Ile421Asn) c.1214T>A (p.Ile405Asn) c.1097T>A (p.Ile366Asn) c.1079T>A (p.Ile360Asn) | |
3 | g.69964932T>C | CA353559480 | MITF | c.1199T>C (p.Ile400Thr) c.1196T>C (p.Ile399Thr) n.1421T>C c.1172T>C (p.Ile391Thr) c.*10T>C (n.*10T>C) c.1265T>C (p.Ile422Thr) c.944T>C (p.Ile315Thr) c.1244T>C (p.Ile415Thr) c.1247T>C (p.Ile416Thr) c.926T>C (p.Ile309Thr) c.1091T>C (p.Ile364Thr) c.*591T>C (n.*591T>C) c.758T>C (p.Ile253Thr) c.1217T>C (p.Ile406Thr) c.1109T>C (p.Ile370Thr) c.1262T>C (p.Ile421Thr) c.1214T>C (p.Ile405Thr) c.1097T>C (p.Ile366Thr) c.1079T>C (p.Ile360Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.69964932T>G | CA353559481 | MITF | c.1199T>G (p.Ile400Ser) c.1196T>G (p.Ile399Ser) n.1421T>G c.1172T>G (p.Ile391Ser) c.*10T>G (n.*10T>G) c.1265T>G (p.Ile422Ser) c.944T>G (p.Ile315Ser) c.1244T>G (p.Ile415Ser) c.1247T>G (p.Ile416Ser) c.926T>G (p.Ile309Ser) c.1091T>G (p.Ile364Ser) c.*591T>G (n.*591T>G) c.758T>G (p.Ile253Ser) c.1217T>G (p.Ile406Ser) c.1109T>G (p.Ile370Ser) c.1262T>G (p.Ile421Ser) c.1214T>G (p.Ile405Ser) c.1097T>G (p.Ile366Ser) c.1079T>G (p.Ile360Ser) | |
3 | g.69964932T= | CA1373413997 | MITF | c.1199T= (p.Ile400=) c.1196T= (p.Ile399=) n.1421T= c.1172T= (p.Ile391=) c.*10T= (n.*10T=) c.1265T= (p.Ile422=) c.944T= (p.Ile315=) c.1244T= (p.Ile415=) c.1247T= (p.Ile416=) c.926T= (p.Ile309=) c.1091T= (p.Ile364=) c.*591T= (n.*591T=) c.758T= (p.Ile253=) c.1217T= (p.Ile406=) c.1109T= (p.Ile370=) c.1262T= (p.Ile421=) c.1214T= (p.Ile405=) c.1097T= (p.Ile366=) c.1079T= (p.Ile360=) | |
3 | g.69964933C>A | CA434433578 | MITF | c.1200C>A (p.Ile400=) c.1197C>A (p.Ile399=) n.1422C>A c.1173C>A (p.Ile391=) c.*11C>A (n.*11C>A) c.1266C>A (p.Ile422=) c.945C>A (p.Ile315=) c.1245C>A (p.Ile415=) c.1248C>A (p.Ile416=) c.927C>A (p.Ile309=) c.1092C>A (p.Ile364=) c.*592C>A (n.*592C>A) c.759C>A (p.Ile253=) c.1218C>A (p.Ile406=) c.1110C>A (p.Ile370=) c.1263C>A (p.Ile421=) c.1215C>A (p.Ile405=) c.1098C>A (p.Ile366=) c.1080C>A (p.Ile360=) | |
3 | g.69964933C>G | CA353559482 | MITF | c.1200C>G (p.Ile400Met) c.1197C>G (p.Ile399Met) n.1422C>G c.1173C>G (p.Ile391Met) c.*11C>G (n.*11C>G) c.1266C>G (p.Ile422Met) c.945C>G (p.Ile315Met) c.1245C>G (p.Ile415Met) c.1248C>G (p.Ile416Met) c.927C>G (p.Ile309Met) c.1092C>G (p.Ile364Met) c.*592C>G (n.*592C>G) c.759C>G (p.Ile253Met) c.1218C>G (p.Ile406Met) c.1110C>G (p.Ile370Met) c.1263C>G (p.Ile421Met) c.1215C>G (p.Ile405Met) c.1098C>G (p.Ile366Met) c.1080C>G (p.Ile360Met) | |
3 | g.69964933C>T | CA434433583 | MITF | c.1200C>T (p.Ile400=) c.1197C>T (p.Ile399=) n.1422C>T c.1173C>T (p.Ile391=) c.*11C>T (n.*11C>T) c.1266C>T (p.Ile422=) c.945C>T (p.Ile315=) c.1245C>T (p.Ile415=) c.1248C>T (p.Ile416=) c.927C>T (p.Ile309=) c.1092C>T (p.Ile364=) c.*592C>T (n.*592C>T) c.759C>T (p.Ile253=) c.1218C>T (p.Ile406=) c.1110C>T (p.Ile370=) c.1263C>T (p.Ile421=) c.1215C>T (p.Ile405=) c.1098C>T (p.Ile366=) c.1080C>T (p.Ile360=) | |
3 | g.69964934A= | CA1373414001 | MITF | c.1201A= (p.Lys401=) c.1198A= (p.Lys400=) n.1423A= c.1174A= (p.Lys392=) c.*12A= (n.*12A=) c.1267A= (p.Lys423=) c.946A= (p.Lys316=) c.1246A= (p.Lys416=) c.1249A= (p.Lys417=) c.928A= (p.Lys310=) c.1093A= (p.Lys365=) c.*593A= (n.*593A=) c.760A= (p.Lys254=) c.1219A= (p.Lys407=) c.1111A= (p.Lys371=) c.1264A= (p.Lys422=) c.1216A= (p.Lys406=) c.1099A= (p.Lys367=) c.1081A= (p.Lys361=) | |
3 | g.69964934A>C | CA353559483 | MITF | c.1201A>C (p.Lys401Gln) c.1198A>C (p.Lys400Gln) n.1423A>C c.1174A>C (p.Lys392Gln) c.*12A>C (n.*12A>C) c.1267A>C (p.Lys423Gln) c.946A>C (p.Lys316Gln) c.1246A>C (p.Lys416Gln) c.1249A>C (p.Lys417Gln) c.928A>C (p.Lys310Gln) c.1093A>C (p.Lys365Gln) c.*593A>C (n.*593A>C) c.760A>C (p.Lys254Gln) c.1219A>C (p.Lys407Gln) c.1111A>C (p.Lys371Gln) c.1264A>C (p.Lys422Gln) c.1216A>C (p.Lys406Gln) c.1099A>C (p.Lys367Gln) c.1081A>C (p.Lys361Gln) | |
3 | g.69964934A>G | CA2490631 | MITF | c.1201A>G (p.Lys401Glu) c.1198A>G (p.Lys400Glu) n.1423A>G c.1174A>G (p.Lys392Glu) c.*12A>G (n.*12A>G) c.1267A>G (p.Lys423Glu) c.946A>G (p.Lys316Glu) c.1246A>G (p.Lys416Glu) c.1249A>G (p.Lys417Glu) c.928A>G (p.Lys310Glu) c.1093A>G (p.Lys365Glu) c.*593A>G (n.*593A>G) c.760A>G (p.Lys254Glu) c.1219A>G (p.Lys407Glu) c.1111A>G (p.Lys371Glu) c.1264A>G (p.Lys422Glu) c.1216A>G (p.Lys406Glu) c.1099A>G (p.Lys367Glu) c.1081A>G (p.Lys361Glu) | ClinVar dbSNP ExAC |
3 | g.69964934A>T | CA353559484 | MITF | c.1201A>T (p.Lys401Ter) c.1198A>T (p.Lys400Ter) n.1423A>T c.1174A>T (p.Lys392Ter) c.*12A>T (n.*12A>T) c.1267A>T (p.Lys423Ter) c.946A>T (p.Lys316Ter) c.1246A>T (p.Lys416Ter) c.1249A>T (p.Lys417Ter) c.928A>T (p.Lys310Ter) c.1093A>T (p.Lys365Ter) c.*593A>T (n.*593A>T) c.760A>T (p.Lys254Ter) c.1219A>T (p.Lys407Ter) c.1111A>T (p.Lys371Ter) c.1264A>T (p.Lys422Ter) c.1216A>T (p.Lys406Ter) c.1099A>T (p.Lys367Ter) c.1081A>T (p.Lys361Ter) | |
3 | g.69964935A>C | CA353559485 | MITF | c.1202A>C (p.Lys401Thr) c.1199A>C (p.Lys400Thr) n.1424A>C c.1175A>C (p.Lys392Thr) c.*13A>C (n.*13A>C) c.1268A>C (p.Lys423Thr) c.947A>C (p.Lys316Thr) c.1247A>C (p.Lys416Thr) c.1250A>C (p.Lys417Thr) c.929A>C (p.Lys310Thr) c.1094A>C (p.Lys365Thr) c.*594A>C (n.*594A>C) c.761A>C (p.Lys254Thr) c.1220A>C (p.Lys407Thr) c.1112A>C (p.Lys371Thr) c.1265A>C (p.Lys422Thr) c.1217A>C (p.Lys406Thr) c.1100A>C (p.Lys367Thr) c.1082A>C (p.Lys361Thr) | |
3 | g.69964935A>G | CA353559487 | MITF | c.1202A>G (p.Lys401Arg) c.1199A>G (p.Lys400Arg) n.1424A>G c.1175A>G (p.Lys392Arg) c.*13A>G (n.*13A>G) c.1268A>G (p.Lys423Arg) c.947A>G (p.Lys316Arg) c.1247A>G (p.Lys416Arg) c.1250A>G (p.Lys417Arg) c.929A>G (p.Lys310Arg) c.1094A>G (p.Lys365Arg) c.*594A>G (n.*594A>G) c.761A>G (p.Lys254Arg) c.1220A>G (p.Lys407Arg) c.1112A>G (p.Lys371Arg) c.1265A>G (p.Lys422Arg) c.1217A>G (p.Lys406Arg) c.1100A>G (p.Lys367Arg) c.1082A>G (p.Lys361Arg) | |
3 | g.69964935A>T | CA353559486 | MITF | c.1202A>T (p.Lys401Met) c.1199A>T (p.Lys400Met) n.1424A>T c.1175A>T (p.Lys392Met) c.*13A>T (n.*13A>T) c.1268A>T (p.Lys423Met) c.947A>T (p.Lys316Met) c.1247A>T (p.Lys416Met) c.1250A>T (p.Lys417Met) c.929A>T (p.Lys310Met) c.1094A>T (p.Lys365Met) c.*594A>T (n.*594A>T) c.761A>T (p.Lys254Met) c.1220A>T (p.Lys407Met) c.1112A>T (p.Lys371Met) c.1265A>T (p.Lys422Met) c.1217A>T (p.Lys406Met) c.1100A>T (p.Lys367Met) c.1082A>T (p.Lys361Met) | |
3 | g.69964936G>A | CA434433592 | MITF | c.1203G>A (p.Lys401=) c.1200G>A (p.Lys400=) n.1425G>A c.1176G>A (p.Lys392=) c.*14G>A (n.*14G>A) c.1269G>A (p.Lys423=) c.948G>A (p.Lys316=) c.1248G>A (p.Lys416=) c.1251G>A (p.Lys417=) c.930G>A (p.Lys310=) c.1095G>A (p.Lys365=) c.*595G>A (n.*595G>A) c.762G>A (p.Lys254=) c.1221G>A (p.Lys407=) c.1113G>A (p.Lys371=) c.1266G>A (p.Lys422=) c.1218G>A (p.Lys406=) c.1101G>A (p.Lys367=) c.1083G>A (p.Lys361=) | |
3 | g.69964936G>C | CA353559488 | MITF | c.1203G>C (p.Lys401Asn) c.1200G>C (p.Lys400Asn) n.1425G>C c.1176G>C (p.Lys392Asn) c.*14G>C (n.*14G>C) c.1269G>C (p.Lys423Asn) c.948G>C (p.Lys316Asn) c.1248G>C (p.Lys416Asn) c.1251G>C (p.Lys417Asn) c.930G>C (p.Lys310Asn) c.1095G>C (p.Lys365Asn) c.*595G>C (n.*595G>C) c.762G>C (p.Lys254Asn) c.1221G>C (p.Lys407Asn) c.1113G>C (p.Lys371Asn) c.1266G>C (p.Lys422Asn) c.1218G>C (p.Lys406Asn) c.1101G>C (p.Lys367Asn) c.1083G>C (p.Lys361Asn) | dbSNP gnomAD v2 |
3 | g.69964936G= | CA1373414006 | MITF | c.1203G= (p.Lys401=) c.1200G= (p.Lys400=) n.1425G= c.1176G= (p.Lys392=) c.*14G= (n.*14G=) c.1269G= (p.Lys423=) c.948G= (p.Lys316=) c.1248G= (p.Lys416=) c.1251G= (p.Lys417=) c.930G= (p.Lys310=) c.1095G= (p.Lys365=) c.*595G= (n.*595G=) c.762G= (p.Lys254=) c.1221G= (p.Lys407=) c.1113G= (p.Lys371=) c.1266G= (p.Lys422=) c.1218G= (p.Lys406=) c.1101G= (p.Lys367=) c.1083G= (p.Lys361=) | |
3 | g.69964936G>T | CA353559489 | MITF | c.1203G>T (p.Lys401Asn) c.1200G>T (p.Lys400Asn) n.1425G>T c.1176G>T (p.Lys392Asn) c.*14G>T (n.*14G>T) c.1269G>T (p.Lys423Asn) c.948G>T (p.Lys316Asn) c.1248G>T (p.Lys416Asn) c.1251G>T (p.Lys417Asn) c.930G>T (p.Lys310Asn) c.1095G>T (p.Lys365Asn) c.*595G>T (n.*595G>T) c.762G>T (p.Lys254Asn) c.1221G>T (p.Lys407Asn) c.1113G>T (p.Lys371Asn) c.1266G>T (p.Lys422Asn) c.1218G>T (p.Lys406Asn) c.1101G>T (p.Lys367Asn) c.1083G>T (p.Lys361Asn) | |
3 | g.69964937C>A | CA353559490 | MITF | c.1204C>A (p.Gln402Lys) c.1201C>A (p.Gln401Lys) n.1426C>A c.1177C>A (p.Gln393Lys) c.*15C>A (n.*15C>A) c.1270C>A (p.Gln424Lys) c.949C>A (p.Gln317Lys) c.1249C>A (p.Gln417Lys) c.1252C>A (p.Gln418Lys) c.931C>A (p.Gln311Lys) c.1096C>A (p.Gln366Lys) c.*596C>A (n.*596C>A) c.763C>A (p.Gln255Lys) c.1222C>A (p.Gln408Lys) c.1114C>A (p.Gln372Lys) c.1267C>A (p.Gln423Lys) c.1219C>A (p.Gln407Lys) c.1102C>A (p.Gln368Lys) c.1084C>A (p.Gln362Lys) | |
3 | g.69964937C= | CA1373414012 | MITF | c.1204C= (p.Gln402=) c.1201C= (p.Gln401=) n.1426C= c.1177C= (p.Gln393=) c.*15C= (n.*15C=) c.1270C= (p.Gln424=) c.949C= (p.Gln317=) c.1249C= (p.Gln417=) c.1252C= (p.Gln418=) c.931C= (p.Gln311=) c.1096C= (p.Gln366=) c.*596C= (n.*596C=) c.763C= (p.Gln255=) c.1222C= (p.Gln408=) c.1114C= (p.Gln372=) c.1267C= (p.Gln423=) c.1219C= (p.Gln407=) c.1102C= (p.Gln368=) c.1084C= (p.Gln362=) | |
3 | g.69964937C>G | CA353559491 | MITF | c.1204C>G (p.Gln402Glu) c.1201C>G (p.Gln401Glu) n.1426C>G c.1177C>G (p.Gln393Glu) c.*15C>G (n.*15C>G) c.1270C>G (p.Gln424Glu) c.949C>G (p.Gln317Glu) c.1249C>G (p.Gln417Glu) c.1252C>G (p.Gln418Glu) c.931C>G (p.Gln311Glu) c.1096C>G (p.Gln366Glu) c.*596C>G (n.*596C>G) c.763C>G (p.Gln255Glu) c.1222C>G (p.Gln408Glu) c.1114C>G (p.Gln372Glu) c.1267C>G (p.Gln423Glu) c.1219C>G (p.Gln407Glu) c.1102C>G (p.Gln368Glu) c.1084C>G (p.Gln362Glu) | dbSNP gnomAD v4 |
3 | g.69964937C>T | CA353559492 | MITF | c.1204C>T (p.Gln402Ter) c.1201C>T (p.Gln401Ter) n.1426C>T c.1177C>T (p.Gln393Ter) c.*15C>T (n.*15C>T) c.1270C>T (p.Gln424Ter) c.949C>T (p.Gln317Ter) c.1249C>T (p.Gln417Ter) c.1252C>T (p.Gln418Ter) c.931C>T (p.Gln311Ter) c.1096C>T (p.Gln366Ter) c.*596C>T (n.*596C>T) c.763C>T (p.Gln255Ter) c.1222C>T (p.Gln408Ter) c.1114C>T (p.Gln372Ter) c.1267C>T (p.Gln423Ter) c.1219C>T (p.Gln407Ter) c.1102C>T (p.Gln368Ter) c.1084C>T (p.Gln362Ter) | dbSNP |
3 | g.69964938A>C | CA353559493 | MITF | c.1205A>C (p.Gln402Pro) c.1202A>C (p.Gln401Pro) n.1427A>C c.1178A>C (p.Gln393Pro) c.*16A>C (n.*16A>C) c.1271A>C (p.Gln424Pro) c.950A>C (p.Gln317Pro) c.1250A>C (p.Gln417Pro) c.1253A>C (p.Gln418Pro) c.932A>C (p.Gln311Pro) c.1097A>C (p.Gln366Pro) c.*597A>C (n.*597A>C) c.764A>C (p.Gln255Pro) c.1223A>C (p.Gln408Pro) c.1115A>C (p.Gln372Pro) c.1268A>C (p.Gln423Pro) c.1220A>C (p.Gln407Pro) c.1103A>C (p.Gln368Pro) c.1085A>C (p.Gln362Pro) | gnomAD v4 |
3 | g.69964938A>G | CA353559494 | MITF | c.1205A>G (p.Gln402Arg) c.1202A>G (p.Gln401Arg) n.1427A>G c.1178A>G (p.Gln393Arg) c.*16A>G (n.*16A>G) c.1271A>G (p.Gln424Arg) c.950A>G (p.Gln317Arg) c.1250A>G (p.Gln417Arg) c.1253A>G (p.Gln418Arg) c.932A>G (p.Gln311Arg) c.1097A>G (p.Gln366Arg) c.*597A>G (n.*597A>G) c.764A>G (p.Gln255Arg) c.1223A>G (p.Gln408Arg) c.1115A>G (p.Gln372Arg) c.1268A>G (p.Gln423Arg) c.1220A>G (p.Gln407Arg) c.1103A>G (p.Gln368Arg) c.1085A>G (p.Gln362Arg) | ClinVar |
3 | g.69964938A>T | CA353559495 | MITF | c.1205A>T (p.Gln402Leu) c.1202A>T (p.Gln401Leu) n.1427A>T c.1178A>T (p.Gln393Leu) c.*16A>T (n.*16A>T) c.1271A>T (p.Gln424Leu) c.950A>T (p.Gln317Leu) c.1250A>T (p.Gln417Leu) c.1253A>T (p.Gln418Leu) c.932A>T (p.Gln311Leu) c.1097A>T (p.Gln366Leu) c.*597A>T (n.*597A>T) c.764A>T (p.Gln255Leu) c.1223A>T (p.Gln408Leu) c.1115A>T (p.Gln372Leu) c.1268A>T (p.Gln423Leu) c.1220A>T (p.Gln407Leu) c.1103A>T (p.Gln368Leu) c.1085A>T (p.Gln362Leu) | |
3 | g.69964939A= | CA1373414014 | MITF | c.1206A= (p.Gln402=) c.1203A= (p.Gln401=) n.1428A= c.1179A= (p.Gln393=) c.*17A= (n.*17A=) c.1272A= (p.Gln424=) c.951A= (p.Gln317=) c.1251A= (p.Gln417=) c.1254A= (p.Gln418=) c.933A= (p.Gln311=) c.1098A= (p.Gln366=) c.*598A= (n.*598A=) c.765A= (p.Gln255=) c.1224A= (p.Gln408=) c.1116A= (p.Gln372=) c.1269A= (p.Gln423=) c.1221A= (p.Gln407=) c.1104A= (p.Gln368=) c.1086A= (p.Gln362=) | |
3 | g.69964939A>C | CA353559496 | MITF | c.1206A>C (p.Gln402His) c.1203A>C (p.Gln401His) n.1428A>C c.1179A>C (p.Gln393His) c.*17A>C (n.*17A>C) c.1272A>C (p.Gln424His) c.951A>C (p.Gln317His) c.1251A>C (p.Gln417His) c.1254A>C (p.Gln418His) c.933A>C (p.Gln311His) c.1098A>C (p.Gln366His) c.*598A>C (n.*598A>C) c.765A>C (p.Gln255His) c.1224A>C (p.Gln408His) c.1116A>C (p.Gln372His) c.1269A>C (p.Gln423His) c.1221A>C (p.Gln407His) c.1104A>C (p.Gln368His) c.1086A>C (p.Gln362His) | |
3 | g.69964939A>G | CA434433601 | MITF | c.1206A>G (p.Gln402=) c.1203A>G (p.Gln401=) n.1428A>G c.1179A>G (p.Gln393=) c.*17A>G (n.*17A>G) c.1272A>G (p.Gln424=) c.951A>G (p.Gln317=) c.1251A>G (p.Gln417=) c.1254A>G (p.Gln418=) c.933A>G (p.Gln311=) c.1098A>G (p.Gln366=) c.*598A>G (n.*598A>G) c.765A>G (p.Gln255=) c.1224A>G (p.Gln408=) c.1116A>G (p.Gln372=) c.1269A>G (p.Gln423=) c.1221A>G (p.Gln407=) c.1104A>G (p.Gln368=) c.1086A>G (p.Gln362=) | dbSNP gnomAD v2 |
3 | g.69964939A>T | CA353559497 | MITF | c.1206A>T (p.Gln402His) c.1203A>T (p.Gln401His) n.1428A>T c.1179A>T (p.Gln393His) c.*17A>T (n.*17A>T) c.1272A>T (p.Gln424His) c.951A>T (p.Gln317His) c.1251A>T (p.Gln417His) c.1254A>T (p.Gln418His) c.933A>T (p.Gln311His) c.1098A>T (p.Gln366His) c.*598A>T (n.*598A>T) c.765A>T (p.Gln255His) c.1224A>T (p.Gln408His) c.1116A>T (p.Gln372His) c.1269A>T (p.Gln423His) c.1221A>T (p.Gln407His) c.1104A>T (p.Gln368His) c.1086A>T (p.Gln362His) | |
3 | g.69964941_69964962dup | CA2573137438 | MITF | c.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 |
3 | g.69964940G>A | CA128649 | MITF | c.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 |
3 | g.69964940G>C | CA353559499 | MITF | c.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) | |
3 | g.69964940G= | CA1373414027 | MITF | c.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=) | |
3 | g.69964940G>T | CA353559498 | MITF | c.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 |
3 | g.69964941A>C | CA353559500 | MITF | c.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) | |
3 | g.69964941A>G | CA353559501 | MITF | c.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) | |
3 | g.69964941A>T | CA353559502 | MITF | c.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) | |
3 | g.69964942A= | CA1373414032 | MITF | c.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=) | |
3 | g.69964942A>C | CA353559503 | MITF | c.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 |
3 | g.69964942A>G | CA434433608 | MITF | c.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 |
3 | g.69964942A>T | CA353559504 | MITF | c.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) | |
3 | g.69964943C>A | CA2490633 | MITF | c.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 |
3 | g.69964943C= | CA1373414036 | MITF | c.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=) | |
3 | g.69964943C>G | CA353559505 | MITF | c.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) | |
3 | g.69964943C>T | CA2490632 | MITF | c.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 |
3 | g.69964944C>A | CA353559506 | MITF | c.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 |
3 | g.69964944C= | CA1373414040 | MITF | c.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=) | |
3 | g.69964944C>G | CA353559507 | MITF | c.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) | |
3 | g.69964944C>T | CA353559508 | MITF | c.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 |
3 | g.69964945C>A | CA434433612 | MITF | c.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 |
3 | g.69964945C= | CA1373414043 | MITF | c.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=) | |
3 | g.69964945C>G | CA434433610 | MITF | c.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 |
3 | g.69964945C>T | CA434433611 | MITF | c.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 |
3 | g.69964945_69964947del | CA2549910303 | MITF | c.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) | |
3 | g.69964946G>A | CA2490634 | MITF | c.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 |
3 | g.69964946G>C | CA353559510 | MITF | c.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) | |
3 | g.69964946G= | CA1373414047 | MITF | c.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=) | |
3 | g.69964946G>T | CA353559509 | MITF | c.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) | |
3 | g.69964947T>A | CA353559511 | MITF | c.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) | |
3 | g.69964947T>C | CA2490635 | MITF | c.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 |
3 | g.69964947T>G | CA353559512 | MITF | c.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) | |
3 | g.69964947T= | CA1373414048 | MITF | c.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=) | |
3 | g.69964948T>A | CA434433613 | MITF | c.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=) | |
3 | g.69964948T>C | CA77003518 | MITF | c.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 |
3 | g.69964948T>G | CA434433614 | MITF | c.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=) | |
3 | g.69964948T= | CA1373414050 | MITF | c.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=) | |
3 | g.69964948_69964949insACC | CA2502980156 | MITF | c.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) | |
3 | g.69964949C>A | CA2490636 | MITF | c.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 |
3 | g.69964949C= | CA1373414054 | MITF | c.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=) | |
3 | g.69964949C>G | CA353559513 | MITF | c.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) | |
3 | g.69964949C>T | CA353559514 | MITF | c.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) | |
3 | g.69964950T>A | CA353559515 | MITF | c.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) | |
3 | g.69964950T>C | CA353559516 | MITF | c.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 |
3 | g.69964950T>G | CA353559517 | MITF | c.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) | |
3 | g.69964950T= | CA1373414057 | MITF | c.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=) | |
3 | g.69964951T>A | CA434433619 | MITF | c.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=) | |
3 | g.69964951T>C | CA434433617 | MITF | c.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=) | |
3 | g.69964951T>G | CA434433618 | MITF | c.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 |
3 | g.69964951T= | CA1373414060 | MITF | c.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=) | |
3 | g.69964952G>A | CA353559518 | MITF | c.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) | |
3 | g.69964952G>C | CA2490637 | MITF | c.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 |
3 | g.69964952G= | CA1373414063 | MITF | c.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=) | |
3 | g.69964952G>T | CA353559519 | MITF | c.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) | |
3 | g.69964953A>C | CA353559522 | MITF | c.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) | |
3 | g.69964953A>G | CA353559521 | MITF | c.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) | |
3 | g.69964953A>T | CA353559520 | MITF | c.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) | |
3 | g.69964954G>A | CA434433624 | MITF | c.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 |
3 | g.69964954G>C | CA353559523 | MITF | c.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) | |
3 | g.69964954G>T | CA353559524 | MITF | c.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) | |
3 | g.69964955A>C | CA353559525 | MITF | c.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) | |
3 | g.69964955A>G | CA353559526 | MITF | c.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) | |
3 | g.69964955A>T | CA353559527 | MITF | c.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) | |
3 | g.69964956A= | CA1373414065 | MITF | c.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=) | |
3 | g.69964956A>C | CA353559528 | MITF | c.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 |
3 | g.69964956A>G | CA353559529 | MITF | c.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 |
3 | g.69964956A>T | CA353559530 | MITF | c.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) | |
3 | g.69964957C>A | CA353559531 | MITF | c.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 |
3 | g.69964957C= | CA1373414070 | MITF | c.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=) | |
3 | g.69964957C>G | CA353559532 | MITF | c.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 |
3 | g.69964957C>T | CA77003519 | MITF | c.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 |
3 | g.69964958T>A | CA353559533 | MITF | c.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) | |
3 | g.69964958T>C | CA353559534 | MITF | c.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) | |
3 | g.69964958T>G | CA353559535 | MITF | c.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 |
3 | g.69964958dup | CA2499216979 | MITF | c.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 |
3 | g.69964959G>A | CA353559537 | MITF | c.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 |
3 | g.69964959G>C | CA353559538 | MITF | c.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) | |
3 | g.69964959G>T | CA353559536 | MITF | c.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) | |
3 | g.69964960C>A | CA353559540 | MITF | c.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 |
3 | g.69964960C>G | CA353559539 | MITF | c.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) | |
3 | g.69964960C>T | CA434433632 | MITF | c.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 |
3 | g.69964961A>C | CA353559543 | MITF | c.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) | |
3 | g.69964961A>G | CA353559541 | MITF | c.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) | |
3 | g.69964961A>T | CA353559542 | MITF | c.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) | |
3 | g.69964962G>A | CA353559544 | MITF | c.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) | |
3 | g.69964962G>C | CA353559545 | MITF | c.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) | |
3 | g.69964962G= | CA1373414074 | MITF | c.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=) | |
3 | g.69964962G>T | CA353559546 | MITF | c.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 |
3 | g.69964963C>A | CA353559547 | MITF | c.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) | |
3 | g.69964963C= | CA1373414077 | MITF | c.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=) | |
3 | g.69964963C>G | CA353559548 | MITF | c.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 |
3 | g.69964963C>T | CA77003520 | MITF | c.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 |
3 | g.69964964C>A | CA353559549 | MITF | c.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) | |
3 | g.69964964C= | CA1373414080 | MITF | c.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=) | |
3 | g.69964964C>G | CA353559550 | MITF | c.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) | |
3 | g.69964964C>T | CA353559551 | MITF | c.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 |
3 | g.69964965A>C | CA353559552 | MITF | c.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) | |
3 | g.69964965A>G | CA353559553 | MITF | c.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) | |
3 | g.69964965A>T | CA353559554 | MITF | c.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) | |
3 | g.69964966A>C | CA353559555 | MITF | c.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) | |
3 | g.69964966A>G | CA434433642 | MITF | c.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 |
3 | g.69964966A>T | CA353559556 | MITF | c.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) | |
3 | g.69964967G>A | CA353559557 | MITF | c.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) | |
3 | g.69964967G>C | CA353559558 | MITF | c.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) | |
3 | g.69964967G>T | CA353559559 | MITF | c.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) | |
3 | g.69964968A= | CA1373414083 | MITF | c.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=) | |
3 | g.69964968A>C | CA353559560 | MITF | c.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) | |
3 | g.69964968A>G | CA353559561 | MITF | c.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 |
3 | g.69964968A>T | CA353559562 | MITF | c.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) |