Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.69964969C>A | CA353559563 | MITF | c.1236C>A (p.Asp412Glu) c.1233C>A (p.Asp411Glu) n.1458C>A c.1209C>A (p.Asp403Glu) c.*47C>A (n.*47C>A) c.1302C>A (p.Asp434Glu) c.981C>A (p.Asp327Glu) c.1281C>A (p.Asp427Glu) c.1284C>A (p.Asp428Glu) c.963C>A (p.Asp321Glu) c.1128C>A (p.Asp376Glu) c.*628C>A (n.*628C>A) c.795C>A (p.Asp265Glu) c.1254C>A (p.Asp418Glu) c.1146C>A (p.Asp382Glu) c.1299C>A (p.Asp433Glu) c.1251C>A (p.Asp417Glu) c.1134C>A (p.Asp378Glu) c.1116C>A (p.Asp372Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964969C= | CA1373414085 | MITF | c.1236C= (p.Asp412=) c.1233C= (p.Asp411=) n.1458C= c.1209C= (p.Asp403=) c.*47C= (n.*47C=) c.1302C= (p.Asp434=) c.981C= (p.Asp327=) c.1281C= (p.Asp427=) c.1284C= (p.Asp428=) c.963C= (p.Asp321=) c.1128C= (p.Asp376=) c.*628C= (n.*628C=) c.795C= (p.Asp265=) c.1254C= (p.Asp418=) c.1146C= (p.Asp382=) c.1299C= (p.Asp433=) c.1251C= (p.Asp417=) c.1134C= (p.Asp378=) c.1116C= (p.Asp372=) | |
3 | g.69964969C>G | CA353559564 | MITF | c.1236C>G (p.Asp412Glu) c.1233C>G (p.Asp411Glu) n.1458C>G c.1209C>G (p.Asp403Glu) c.*47C>G (n.*47C>G) c.1302C>G (p.Asp434Glu) c.981C>G (p.Asp327Glu) c.1281C>G (p.Asp427Glu) c.1284C>G (p.Asp428Glu) c.963C>G (p.Asp321Glu) c.1128C>G (p.Asp376Glu) c.*628C>G (n.*628C>G) c.795C>G (p.Asp265Glu) c.1254C>G (p.Asp418Glu) c.1146C>G (p.Asp382Glu) c.1299C>G (p.Asp433Glu) c.1251C>G (p.Asp417Glu) c.1134C>G (p.Asp378Glu) c.1116C>G (p.Asp372Glu) | |
3 | g.69964969C>T | CA434433649 | MITF | c.1236C>T (p.Asp412=) c.1233C>T (p.Asp411=) n.1458C>T c.1209C>T (p.Asp403=) c.*47C>T (n.*47C>T) c.1302C>T (p.Asp434=) c.981C>T (p.Asp327=) c.1281C>T (p.Asp427=) c.1284C>T (p.Asp428=) c.963C>T (p.Asp321=) c.1128C>T (p.Asp376=) c.*628C>T (n.*628C>T) c.795C>T (p.Asp265=) c.1254C>T (p.Asp418=) c.1146C>T (p.Asp382=) c.1299C>T (p.Asp433=) c.1251C>T (p.Asp417=) c.1134C>T (p.Asp378=) c.1116C>T (p.Asp372=) | |
3 | g.69964970C>A | CA353559565 | MITF | c.1237C>A (p.Leu413Ile) c.1234C>A (p.Leu412Ile) n.1459C>A c.1210C>A (p.Leu404Ile) c.*48C>A (n.*48C>A) c.1303C>A (p.Leu435Ile) c.982C>A (p.Leu328Ile) c.1282C>A (p.Leu428Ile) c.1285C>A (p.Leu429Ile) c.964C>A (p.Leu322Ile) c.1129C>A (p.Leu377Ile) c.*629C>A (n.*629C>A) c.796C>A (p.Leu266Ile) c.1255C>A (p.Leu419Ile) c.1147C>A (p.Leu383Ile) c.1300C>A (p.Leu434Ile) c.1252C>A (p.Leu418Ile) c.1135C>A (p.Leu379Ile) c.1117C>A (p.Leu373Ile) | |
3 | g.69964970C>G | CA353559566 | MITF | c.1237C>G (p.Leu413Val) c.1234C>G (p.Leu412Val) n.1459C>G c.1210C>G (p.Leu404Val) c.*48C>G (n.*48C>G) c.1303C>G (p.Leu435Val) c.982C>G (p.Leu328Val) c.1282C>G (p.Leu428Val) c.1285C>G (p.Leu429Val) c.964C>G (p.Leu322Val) c.1129C>G (p.Leu377Val) c.*629C>G (n.*629C>G) c.796C>G (p.Leu266Val) c.1255C>G (p.Leu419Val) c.1147C>G (p.Leu383Val) c.1300C>G (p.Leu434Val) c.1252C>G (p.Leu418Val) c.1135C>G (p.Leu379Val) c.1117C>G (p.Leu373Val) | ClinVar |
3 | g.69964970C>T | CA353559567 | MITF | c.1237C>T (p.Leu413Phe) c.1234C>T (p.Leu412Phe) n.1459C>T c.1210C>T (p.Leu404Phe) c.*48C>T (n.*48C>T) c.1303C>T (p.Leu435Phe) c.982C>T (p.Leu328Phe) c.1282C>T (p.Leu428Phe) c.1285C>T (p.Leu429Phe) c.964C>T (p.Leu322Phe) c.1129C>T (p.Leu377Phe) c.*629C>T (n.*629C>T) c.796C>T (p.Leu266Phe) c.1255C>T (p.Leu419Phe) c.1147C>T (p.Leu383Phe) c.1300C>T (p.Leu434Phe) c.1252C>T (p.Leu418Phe) c.1135C>T (p.Leu379Phe) c.1117C>T (p.Leu373Phe) | dbSNP |
3 | g.69964971T>A | CA353559570 | MITF | c.1238T>A (p.Leu413His) c.1235T>A (p.Leu412His) n.1460T>A c.1211T>A (p.Leu404His) c.*49T>A (n.*49T>A) c.1304T>A (p.Leu435His) c.983T>A (p.Leu328His) c.1283T>A (p.Leu428His) c.1286T>A (p.Leu429His) c.965T>A (p.Leu322His) c.1130T>A (p.Leu377His) c.*630T>A (n.*630T>A) c.797T>A (p.Leu266His) c.1256T>A (p.Leu419His) c.1148T>A (p.Leu383His) c.1301T>A (p.Leu434His) c.1253T>A (p.Leu418His) c.1136T>A (p.Leu379His) c.1118T>A (p.Leu373His) | |
3 | g.69964971T>C | CA353559569 | MITF | c.1238T>C (p.Leu413Pro) c.1235T>C (p.Leu412Pro) n.1460T>C c.1211T>C (p.Leu404Pro) c.*49T>C (n.*49T>C) c.1304T>C (p.Leu435Pro) c.983T>C (p.Leu328Pro) c.1283T>C (p.Leu428Pro) c.1286T>C (p.Leu429Pro) c.965T>C (p.Leu322Pro) c.1130T>C (p.Leu377Pro) c.*630T>C (n.*630T>C) c.797T>C (p.Leu266Pro) c.1256T>C (p.Leu419Pro) c.1148T>C (p.Leu383Pro) c.1301T>C (p.Leu434Pro) c.1253T>C (p.Leu418Pro) c.1136T>C (p.Leu379Pro) c.1118T>C (p.Leu373Pro) | |
3 | g.69964971T>G | CA353559568 | MITF | c.1238T>G (p.Leu413Arg) c.1235T>G (p.Leu412Arg) n.1460T>G c.1211T>G (p.Leu404Arg) c.*49T>G (n.*49T>G) c.1304T>G (p.Leu435Arg) c.983T>G (p.Leu328Arg) c.1283T>G (p.Leu428Arg) c.1286T>G (p.Leu429Arg) c.965T>G (p.Leu322Arg) c.1130T>G (p.Leu377Arg) c.*630T>G (n.*630T>G) c.797T>G (p.Leu266Arg) c.1256T>G (p.Leu419Arg) c.1148T>G (p.Leu383Arg) c.1301T>G (p.Leu434Arg) c.1253T>G (p.Leu418Arg) c.1136T>G (p.Leu379Arg) c.1118T>G (p.Leu373Arg) | ClinVar |
3 | g.69964972C>A | CA434433652 | MITF | c.1239C>A (p.Leu413=) c.1236C>A (p.Leu412=) n.1461C>A c.1212C>A (p.Leu404=) c.*50C>A (n.*50C>A) c.1305C>A (p.Leu435=) c.984C>A (p.Leu328=) c.1284C>A (p.Leu428=) c.1287C>A (p.Leu429=) c.966C>A (p.Leu322=) c.1131C>A (p.Leu377=) c.*631C>A (n.*631C>A) c.798C>A (p.Leu266=) c.1257C>A (p.Leu419=) c.1149C>A (p.Leu383=) c.1302C>A (p.Leu434=) c.1254C>A (p.Leu418=) c.1137C>A (p.Leu379=) c.1119C>A (p.Leu373=) | |
3 | g.69964972C>G | CA434433653 | MITF | c.1239C>G (p.Leu413=) c.1236C>G (p.Leu412=) n.1461C>G c.1212C>G (p.Leu404=) c.*50C>G (n.*50C>G) c.1305C>G (p.Leu435=) c.984C>G (p.Leu328=) c.1284C>G (p.Leu428=) c.1287C>G (p.Leu429=) c.966C>G (p.Leu322=) c.1131C>G (p.Leu377=) c.*631C>G (n.*631C>G) c.798C>G (p.Leu266=) c.1257C>G (p.Leu419=) c.1149C>G (p.Leu383=) c.1302C>G (p.Leu434=) c.1254C>G (p.Leu418=) c.1137C>G (p.Leu379=) c.1119C>G (p.Leu373=) | |
3 | g.69964972C>T | CA434433656 | MITF | c.1239C>T (p.Leu413=) c.1236C>T (p.Leu412=) n.1461C>T c.1212C>T (p.Leu404=) c.*50C>T (n.*50C>T) c.1305C>T (p.Leu435=) c.984C>T (p.Leu328=) c.1284C>T (p.Leu428=) c.1287C>T (p.Leu429=) c.966C>T (p.Leu322=) c.1131C>T (p.Leu377=) c.*631C>T (n.*631C>T) c.798C>T (p.Leu266=) c.1257C>T (p.Leu419=) c.1149C>T (p.Leu383=) c.1302C>T (p.Leu434=) c.1254C>T (p.Leu418=) c.1137C>T (p.Leu379=) c.1119C>T (p.Leu373=) | gnomAD v3 gnomAD v4 |
3 | g.69964973C>A | CA353559571 | MITF | c.1240C>A (p.Leu414Ile) c.1237C>A (p.Leu413Ile) n.1462C>A c.1213C>A (p.Leu405Ile) c.*51C>A (n.*51C>A) c.1306C>A (p.Leu436Ile) c.985C>A (p.Leu329Ile) c.1285C>A (p.Leu429Ile) c.1288C>A (p.Leu430Ile) c.967C>A (p.Leu323Ile) c.1132C>A (p.Leu378Ile) c.*632C>A (n.*632C>A) c.799C>A (p.Leu267Ile) c.1258C>A (p.Leu420Ile) c.1150C>A (p.Leu384Ile) c.1303C>A (p.Leu435Ile) c.1255C>A (p.Leu419Ile) c.1138C>A (p.Leu380Ile) c.1120C>A (p.Leu374Ile) | |
3 | g.69964973C>G | CA353559572 | MITF | c.1240C>G (p.Leu414Val) c.1237C>G (p.Leu413Val) n.1462C>G c.1213C>G (p.Leu405Val) c.*51C>G (n.*51C>G) c.1306C>G (p.Leu436Val) c.985C>G (p.Leu329Val) c.1285C>G (p.Leu429Val) c.1288C>G (p.Leu430Val) c.967C>G (p.Leu323Val) c.1132C>G (p.Leu378Val) c.*632C>G (n.*632C>G) c.799C>G (p.Leu267Val) c.1258C>G (p.Leu420Val) c.1150C>G (p.Leu384Val) c.1303C>G (p.Leu435Val) c.1255C>G (p.Leu419Val) c.1138C>G (p.Leu380Val) c.1120C>G (p.Leu374Val) | gnomAD v3 gnomAD v4 |
3 | g.69964973C>T | CA353559573 | MITF | c.1240C>T (p.Leu414Phe) c.1237C>T (p.Leu413Phe) n.1462C>T c.1213C>T (p.Leu405Phe) c.*51C>T (n.*51C>T) c.1306C>T (p.Leu436Phe) c.985C>T (p.Leu329Phe) c.1285C>T (p.Leu429Phe) c.1288C>T (p.Leu430Phe) c.967C>T (p.Leu323Phe) c.1132C>T (p.Leu378Phe) c.*632C>T (n.*632C>T) c.799C>T (p.Leu267Phe) c.1258C>T (p.Leu420Phe) c.1150C>T (p.Leu384Phe) c.1303C>T (p.Leu435Phe) c.1255C>T (p.Leu419Phe) c.1138C>T (p.Leu380Phe) c.1120C>T (p.Leu374Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.69964974T>A | CA353559574 | MITF | c.1241T>A (p.Leu414His) c.1238T>A (p.Leu413His) n.1463T>A c.1214T>A (p.Leu405His) c.*52T>A (n.*52T>A) c.1307T>A (p.Leu436His) c.986T>A (p.Leu329His) c.1286T>A (p.Leu429His) c.1289T>A (p.Leu430His) c.968T>A (p.Leu323His) c.1133T>A (p.Leu378His) c.*633T>A (n.*633T>A) c.800T>A (p.Leu267His) c.1259T>A (p.Leu420His) c.1151T>A (p.Leu384His) c.1304T>A (p.Leu435His) c.1256T>A (p.Leu419His) c.1139T>A (p.Leu380His) c.1121T>A (p.Leu374His) | |
3 | g.69964974T>C | CA353559575 | MITF | c.1241T>C (p.Leu414Pro) c.1238T>C (p.Leu413Pro) n.1463T>C c.1214T>C (p.Leu405Pro) c.*52T>C (n.*52T>C) c.1307T>C (p.Leu436Pro) c.986T>C (p.Leu329Pro) c.1286T>C (p.Leu429Pro) c.1289T>C (p.Leu430Pro) c.968T>C (p.Leu323Pro) c.1133T>C (p.Leu378Pro) c.*633T>C (n.*633T>C) c.800T>C (p.Leu267Pro) c.1259T>C (p.Leu420Pro) c.1151T>C (p.Leu384Pro) c.1304T>C (p.Leu435Pro) c.1256T>C (p.Leu419Pro) c.1139T>C (p.Leu380Pro) c.1121T>C (p.Leu374Pro) | |
3 | g.69964974T>G | CA77003521 | MITF | c.1241T>G (p.Leu414Arg) c.1238T>G (p.Leu413Arg) n.1463T>G c.1214T>G (p.Leu405Arg) c.*52T>G (n.*52T>G) c.1307T>G (p.Leu436Arg) c.986T>G (p.Leu329Arg) c.1286T>G (p.Leu429Arg) c.1289T>G (p.Leu430Arg) c.968T>G (p.Leu323Arg) c.1133T>G (p.Leu378Arg) c.*633T>G (n.*633T>G) c.800T>G (p.Leu267Arg) c.1259T>G (p.Leu420Arg) c.1151T>G (p.Leu384Arg) c.1304T>G (p.Leu435Arg) c.1256T>G (p.Leu419Arg) c.1139T>G (p.Leu380Arg) c.1121T>G (p.Leu374Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964974T= | CA1373414087 | MITF | c.1241T= (p.Leu414=) c.1238T= (p.Leu413=) n.1463T= c.1214T= (p.Leu405=) c.*52T= (n.*52T=) c.1307T= (p.Leu436=) c.986T= (p.Leu329=) c.1286T= (p.Leu429=) c.1289T= (p.Leu430=) c.968T= (p.Leu323=) c.1133T= (p.Leu378=) c.*633T= (n.*633T=) c.800T= (p.Leu267=) c.1259T= (p.Leu420=) c.1151T= (p.Leu384=) c.1304T= (p.Leu435=) c.1256T= (p.Leu419=) c.1139T= (p.Leu380=) c.1121T= (p.Leu374=) | |
3 | g.69964975T>A | CA434433659 | MITF | c.1242T>A (p.Leu414=) c.1239T>A (p.Leu413=) n.1464T>A c.1215T>A (p.Leu405=) c.*53T>A (n.*53T>A) c.1308T>A (p.Leu436=) c.987T>A (p.Leu329=) c.1287T>A (p.Leu429=) c.1290T>A (p.Leu430=) c.969T>A (p.Leu323=) c.1134T>A (p.Leu378=) c.*634T>A (n.*634T>A) c.801T>A (p.Leu267=) c.1260T>A (p.Leu420=) c.1152T>A (p.Leu384=) c.1305T>A (p.Leu435=) c.1257T>A (p.Leu419=) c.1140T>A (p.Leu380=) c.1122T>A (p.Leu374=) | gnomAD v3 gnomAD v4 |
3 | g.69964975T>C | CA434433660 | MITF | c.1242T>C (p.Leu414=) c.1239T>C (p.Leu413=) n.1464T>C c.1215T>C (p.Leu405=) c.*53T>C (n.*53T>C) c.1308T>C (p.Leu436=) c.987T>C (p.Leu329=) c.1287T>C (p.Leu429=) c.1290T>C (p.Leu430=) c.969T>C (p.Leu323=) c.1134T>C (p.Leu378=) c.*634T>C (n.*634T>C) c.801T>C (p.Leu267=) c.1260T>C (p.Leu420=) c.1152T>C (p.Leu384=) c.1305T>C (p.Leu435=) c.1257T>C (p.Leu419=) c.1140T>C (p.Leu380=) c.1122T>C (p.Leu374=) | |
3 | g.69964975T>G | CA434433661 | MITF | c.1242T>G (p.Leu414=) c.1239T>G (p.Leu413=) n.1464T>G c.1215T>G (p.Leu405=) c.*53T>G (n.*53T>G) c.1308T>G (p.Leu436=) c.987T>G (p.Leu329=) c.1287T>G (p.Leu429=) c.1290T>G (p.Leu430=) c.969T>G (p.Leu323=) c.1134T>G (p.Leu378=) c.*634T>G (n.*634T>G) c.801T>G (p.Leu267=) c.1260T>G (p.Leu420=) c.1152T>G (p.Leu384=) c.1305T>G (p.Leu435=) c.1257T>G (p.Leu419=) c.1140T>G (p.Leu380=) c.1122T>G (p.Leu374=) | |
3 | g.69964976C>A | CA353559578 | MITF | c.1243C>A (p.Gln415Lys) c.1240C>A (p.Gln414Lys) n.1465C>A c.1216C>A (p.Gln406Lys) c.*54C>A (n.*54C>A) c.1309C>A (p.Gln437Lys) c.988C>A (p.Gln330Lys) c.1288C>A (p.Gln430Lys) c.1291C>A (p.Gln431Lys) c.970C>A (p.Gln324Lys) c.1135C>A (p.Gln379Lys) c.*635C>A (n.*635C>A) c.802C>A (p.Gln268Lys) c.1261C>A (p.Gln421Lys) c.1153C>A (p.Gln385Lys) c.1306C>A (p.Gln436Lys) c.1258C>A (p.Gln420Lys) c.1141C>A (p.Gln381Lys) c.1123C>A (p.Gln375Lys) | |
3 | g.69964976C>G | CA353559576 | MITF | c.1243C>G (p.Gln415Glu) c.1240C>G (p.Gln414Glu) n.1465C>G c.1216C>G (p.Gln406Glu) c.*54C>G (n.*54C>G) c.1309C>G (p.Gln437Glu) c.988C>G (p.Gln330Glu) c.1288C>G (p.Gln430Glu) c.1291C>G (p.Gln431Glu) c.970C>G (p.Gln324Glu) c.1135C>G (p.Gln379Glu) c.*635C>G (n.*635C>G) c.802C>G (p.Gln268Glu) c.1261C>G (p.Gln421Glu) c.1153C>G (p.Gln385Glu) c.1306C>G (p.Gln436Glu) c.1258C>G (p.Gln420Glu) c.1141C>G (p.Gln381Glu) c.1123C>G (p.Gln375Glu) | |
3 | g.69964976C>T | CA353559577 | MITF | c.1243C>T (p.Gln415Ter) c.1240C>T (p.Gln414Ter) n.1465C>T c.1216C>T (p.Gln406Ter) c.*54C>T (n.*54C>T) c.1309C>T (p.Gln437Ter) c.988C>T (p.Gln330Ter) c.1288C>T (p.Gln430Ter) c.1291C>T (p.Gln431Ter) c.970C>T (p.Gln324Ter) c.1135C>T (p.Gln379Ter) c.*635C>T (n.*635C>T) c.802C>T (p.Gln268Ter) c.1261C>T (p.Gln421Ter) c.1153C>T (p.Gln385Ter) c.1306C>T (p.Gln436Ter) c.1258C>T (p.Gln420Ter) c.1141C>T (p.Gln381Ter) c.1123C>T (p.Gln375Ter) | dbSNP |
3 | g.69964977A= | CA1373414089 | MITF | c.1244A= (p.Gln415=) c.1241A= (p.Gln414=) n.1466A= c.1217A= (p.Gln406=) c.*55A= (n.*55A=) c.1310A= (p.Gln437=) c.989A= (p.Gln330=) c.1289A= (p.Gln430=) c.1292A= (p.Gln431=) c.971A= (p.Gln324=) c.1136A= (p.Gln379=) c.*636A= (n.*636A=) c.803A= (p.Gln268=) c.1262A= (p.Gln421=) c.1154A= (p.Gln385=) c.1307A= (p.Gln436=) c.1259A= (p.Gln420=) c.1142A= (p.Gln381=) c.1124A= (p.Gln375=) | |
3 | g.69964977A>C | CA353559579 | MITF | c.1244A>C (p.Gln415Pro) c.1241A>C (p.Gln414Pro) n.1466A>C c.1217A>C (p.Gln406Pro) c.*55A>C (n.*55A>C) c.1310A>C (p.Gln437Pro) c.989A>C (p.Gln330Pro) c.1289A>C (p.Gln430Pro) c.1292A>C (p.Gln431Pro) c.971A>C (p.Gln324Pro) c.1136A>C (p.Gln379Pro) c.*636A>C (n.*636A>C) c.803A>C (p.Gln268Pro) c.1262A>C (p.Gln421Pro) c.1154A>C (p.Gln385Pro) c.1307A>C (p.Gln436Pro) c.1259A>C (p.Gln420Pro) c.1142A>C (p.Gln381Pro) c.1124A>C (p.Gln375Pro) | |
3 | g.69964977A>G | CA353559580 | MITF | c.1244A>G (p.Gln415Arg) c.1241A>G (p.Gln414Arg) n.1466A>G c.1217A>G (p.Gln406Arg) c.*55A>G (n.*55A>G) c.1310A>G (p.Gln437Arg) c.989A>G (p.Gln330Arg) c.1289A>G (p.Gln430Arg) c.1292A>G (p.Gln431Arg) c.971A>G (p.Gln324Arg) c.1136A>G (p.Gln379Arg) c.*636A>G (n.*636A>G) c.803A>G (p.Gln268Arg) c.1262A>G (p.Gln421Arg) c.1154A>G (p.Gln385Arg) c.1307A>G (p.Gln436Arg) c.1259A>G (p.Gln420Arg) c.1142A>G (p.Gln381Arg) c.1124A>G (p.Gln375Arg) | dbSNP |
3 | g.69964977A>T | CA353559581 | MITF | c.1244A>T (p.Gln415Leu) c.1241A>T (p.Gln414Leu) n.1466A>T c.1217A>T (p.Gln406Leu) c.*55A>T (n.*55A>T) c.1310A>T (p.Gln437Leu) c.989A>T (p.Gln330Leu) c.1289A>T (p.Gln430Leu) c.1292A>T (p.Gln431Leu) c.971A>T (p.Gln324Leu) c.1136A>T (p.Gln379Leu) c.*636A>T (n.*636A>T) c.803A>T (p.Gln268Leu) c.1262A>T (p.Gln421Leu) c.1154A>T (p.Gln385Leu) c.1307A>T (p.Gln436Leu) c.1259A>T (p.Gln420Leu) c.1142A>T (p.Gln381Leu) c.1124A>T (p.Gln375Leu) | dbSNP gnomAD v4 |
3 | g.69964978G>A | CA434433668 | MITF | c.1245G>A (p.Gln415=) c.1242G>A (p.Gln414=) n.1467G>A c.1218G>A (p.Gln406=) c.*56G>A (n.*56G>A) c.1311G>A (p.Gln437=) c.990G>A (p.Gln330=) c.1290G>A (p.Gln430=) c.1293G>A (p.Gln431=) c.972G>A (p.Gln324=) c.1137G>A (p.Gln379=) c.*637G>A (n.*637G>A) c.804G>A (p.Gln268=) c.1263G>A (p.Gln421=) c.1155G>A (p.Gln385=) c.1308G>A (p.Gln436=) c.1260G>A (p.Gln420=) c.1143G>A (p.Gln381=) c.1125G>A (p.Gln375=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69964978G>C | CA353559582 | MITF | c.1245G>C (p.Gln415His) c.1242G>C (p.Gln414His) n.1467G>C c.1218G>C (p.Gln406His) c.*56G>C (n.*56G>C) c.1311G>C (p.Gln437His) c.990G>C (p.Gln330His) c.1290G>C (p.Gln430His) c.1293G>C (p.Gln431His) c.972G>C (p.Gln324His) c.1137G>C (p.Gln379His) c.*637G>C (n.*637G>C) c.804G>C (p.Gln268His) c.1263G>C (p.Gln421His) c.1155G>C (p.Gln385His) c.1308G>C (p.Gln436His) c.1260G>C (p.Gln420His) c.1143G>C (p.Gln381His) c.1125G>C (p.Gln375His) | |
3 | g.69964978G= | CA1373414095 | MITF | c.1245G= (p.Gln415=) c.1242G= (p.Gln414=) n.1467G= c.1218G= (p.Gln406=) c.*56G= (n.*56G=) c.1311G= (p.Gln437=) c.990G= (p.Gln330=) c.1290G= (p.Gln430=) c.1293G= (p.Gln431=) c.972G= (p.Gln324=) c.1137G= (p.Gln379=) c.*637G= (n.*637G=) c.804G= (p.Gln268=) c.1263G= (p.Gln421=) c.1155G= (p.Gln385=) c.1308G= (p.Gln436=) c.1260G= (p.Gln420=) c.1143G= (p.Gln381=) c.1125G= (p.Gln375=) | |
3 | g.69964978G>T | CA353559583 | MITF | c.1245G>T (p.Gln415His) c.1242G>T (p.Gln414His) n.1467G>T c.1218G>T (p.Gln406His) c.*56G>T (n.*56G>T) c.1311G>T (p.Gln437His) c.990G>T (p.Gln330His) c.1290G>T (p.Gln430His) c.1293G>T (p.Gln431His) c.972G>T (p.Gln324His) c.1137G>T (p.Gln379His) c.*637G>T (n.*637G>T) c.804G>T (p.Gln268His) c.1263G>T (p.Gln421His) c.1155G>T (p.Gln385His) c.1308G>T (p.Gln436His) c.1260G>T (p.Gln420His) c.1143G>T (p.Gln381His) c.1125G>T (p.Gln375His) | gnomAD v4 |
3 | g.69964979C>A | CA2490638 | MITF | c.1246C>A (p.His416Asn) c.1243C>A (p.His415Asn) n.1468C>A c.1219C>A (p.His407Asn) c.*57C>A (n.*57C>A) c.1312C>A (p.His438Asn) c.991C>A (p.His331Asn) c.1291C>A (p.His431Asn) c.1294C>A (p.His432Asn) c.973C>A (p.His325Asn) c.1138C>A (p.His380Asn) c.*638C>A (n.*638C>A) c.805C>A (p.His269Asn) c.1264C>A (p.His422Asn) c.1156C>A (p.His386Asn) c.1309C>A (p.His437Asn) c.1261C>A (p.His421Asn) c.1144C>A (p.His382Asn) c.1126C>A (p.His376Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69964979C= | CA1373414099 | MITF | c.1246C= (p.His416=) c.1243C= (p.His415=) n.1468C= c.1219C= (p.His407=) c.*57C= (n.*57C=) c.1312C= (p.His438=) c.991C= (p.His331=) c.1291C= (p.His431=) c.1294C= (p.His432=) c.973C= (p.His325=) c.1138C= (p.His380=) c.*638C= (n.*638C=) c.805C= (p.His269=) c.1264C= (p.His422=) c.1156C= (p.His386=) c.1309C= (p.His437=) c.1261C= (p.His421=) c.1144C= (p.His382=) c.1126C= (p.His376=) | |
3 | g.69964979C>G | CA353559585 | MITF | c.1246C>G (p.His416Asp) c.1243C>G (p.His415Asp) n.1468C>G c.1219C>G (p.His407Asp) c.*57C>G (n.*57C>G) c.1312C>G (p.His438Asp) c.991C>G (p.His331Asp) c.1291C>G (p.His431Asp) c.1294C>G (p.His432Asp) c.973C>G (p.His325Asp) c.1138C>G (p.His380Asp) c.*638C>G (n.*638C>G) c.805C>G (p.His269Asp) c.1264C>G (p.His422Asp) c.1156C>G (p.His386Asp) c.1309C>G (p.His437Asp) c.1261C>G (p.His421Asp) c.1144C>G (p.His382Asp) c.1126C>G (p.His376Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964979C>T | CA353559584 | MITF | c.1246C>T (p.His416Tyr) c.1243C>T (p.His415Tyr) n.1468C>T c.1219C>T (p.His407Tyr) c.*57C>T (n.*57C>T) c.1312C>T (p.His438Tyr) c.991C>T (p.His331Tyr) c.1291C>T (p.His431Tyr) c.1294C>T (p.His432Tyr) c.973C>T (p.His325Tyr) c.1138C>T (p.His380Tyr) c.*638C>T (n.*638C>T) c.805C>T (p.His269Tyr) c.1264C>T (p.His422Tyr) c.1156C>T (p.His386Tyr) c.1309C>T (p.His437Tyr) c.1261C>T (p.His421Tyr) c.1144C>T (p.His382Tyr) c.1126C>T (p.His376Tyr) | |
3 | g.69964980A= | CA1373414102 | MITF | c.1247A= (p.His416=) c.1244A= (p.His415=) n.1469A= c.1220A= (p.His407=) c.*58A= (n.*58A=) c.1313A= (p.His438=) c.992A= (p.His331=) c.1292A= (p.His431=) c.1295A= (p.His432=) c.974A= (p.His325=) c.1139A= (p.His380=) c.*639A= (n.*639A=) c.806A= (p.His269=) c.1265A= (p.His422=) c.1157A= (p.His386=) c.1310A= (p.His437=) c.1262A= (p.His421=) c.1145A= (p.His382=) c.1127A= (p.His376=) | |
3 | g.69964980A>C | CA353559586 | MITF | c.1247A>C (p.His416Pro) c.1244A>C (p.His415Pro) n.1469A>C c.1220A>C (p.His407Pro) c.*58A>C (n.*58A>C) c.1313A>C (p.His438Pro) c.992A>C (p.His331Pro) c.1292A>C (p.His431Pro) c.1295A>C (p.His432Pro) c.974A>C (p.His325Pro) c.1139A>C (p.His380Pro) c.*639A>C (n.*639A>C) c.806A>C (p.His269Pro) c.1265A>C (p.His422Pro) c.1157A>C (p.His386Pro) c.1310A>C (p.His437Pro) c.1262A>C (p.His421Pro) c.1145A>C (p.His382Pro) c.1127A>C (p.His376Pro) | |
3 | g.69964980A>G | CA353559587 | MITF | c.1247A>G (p.His416Arg) c.1244A>G (p.His415Arg) n.1469A>G c.1220A>G (p.His407Arg) c.*58A>G (n.*58A>G) c.1313A>G (p.His438Arg) c.992A>G (p.His331Arg) c.1292A>G (p.His431Arg) c.1295A>G (p.His432Arg) c.974A>G (p.His325Arg) c.1139A>G (p.His380Arg) c.*639A>G (n.*639A>G) c.806A>G (p.His269Arg) c.1265A>G (p.His422Arg) c.1157A>G (p.His386Arg) c.1310A>G (p.His437Arg) c.1262A>G (p.His421Arg) c.1145A>G (p.His382Arg) c.1127A>G (p.His376Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.69964980A>T | CA353559588 | MITF | c.1247A>T (p.His416Leu) c.1244A>T (p.His415Leu) n.1469A>T c.1220A>T (p.His407Leu) c.*58A>T (n.*58A>T) c.1313A>T (p.His438Leu) c.992A>T (p.His331Leu) c.1292A>T (p.His431Leu) c.1295A>T (p.His432Leu) c.974A>T (p.His325Leu) c.1139A>T (p.His380Leu) c.*639A>T (n.*639A>T) c.806A>T (p.His269Leu) c.1265A>T (p.His422Leu) c.1157A>T (p.His386Leu) c.1310A>T (p.His437Leu) c.1262A>T (p.His421Leu) c.1145A>T (p.His382Leu) c.1127A>T (p.His376Leu) | gnomAD v4 |
3 | g.69964981T>A | CA353559589 | MITF | c.1248T>A (p.His416Gln) c.1245T>A (p.His415Gln) n.1470T>A c.1221T>A (p.His407Gln) c.*59T>A (n.*59T>A) c.1314T>A (p.His438Gln) c.993T>A (p.His331Gln) c.1293T>A (p.His431Gln) c.1296T>A (p.His432Gln) c.975T>A (p.His325Gln) c.1140T>A (p.His380Gln) c.*640T>A (n.*640T>A) c.807T>A (p.His269Gln) c.1266T>A (p.His422Gln) c.1158T>A (p.His386Gln) c.1311T>A (p.His437Gln) c.1263T>A (p.His421Gln) c.1146T>A (p.His382Gln) c.1128T>A (p.His376Gln) | |
3 | g.69964981T>C | CA434433670 | MITF | c.1248T>C (p.His416=) c.1245T>C (p.His415=) n.1470T>C c.1221T>C (p.His407=) c.*59T>C (n.*59T>C) c.1314T>C (p.His438=) c.993T>C (p.His331=) c.1293T>C (p.His431=) c.1296T>C (p.His432=) c.975T>C (p.His325=) c.1140T>C (p.His380=) c.*640T>C (n.*640T>C) c.807T>C (p.His269=) c.1266T>C (p.His422=) c.1158T>C (p.His386=) c.1311T>C (p.His437=) c.1263T>C (p.His421=) c.1146T>C (p.His382=) c.1128T>C (p.His376=) | gnomAD v3 gnomAD v4 |
3 | g.69964981T>G | CA353559590 | MITF | c.1248T>G (p.His416Gln) c.1245T>G (p.His415Gln) n.1470T>G c.1221T>G (p.His407Gln) c.*59T>G (n.*59T>G) c.1314T>G (p.His438Gln) c.993T>G (p.His331Gln) c.1293T>G (p.His431Gln) c.1296T>G (p.His432Gln) c.975T>G (p.His325Gln) c.1140T>G (p.His380Gln) c.*640T>G (n.*640T>G) c.807T>G (p.His269Gln) c.1266T>G (p.His422Gln) c.1158T>G (p.His386Gln) c.1311T>G (p.His437Gln) c.1263T>G (p.His421Gln) c.1146T>G (p.His382Gln) c.1128T>G (p.His376Gln) | |
3 | g.69964982C>A | CA353559591 | MITF | c.1249C>A (p.His417Asn) c.1246C>A (p.His416Asn) n.1471C>A c.1222C>A (p.His408Asn) c.*60C>A (n.*60C>A) c.1315C>A (p.His439Asn) c.994C>A (p.His332Asn) c.1294C>A (p.His432Asn) c.1297C>A (p.His433Asn) c.976C>A (p.His326Asn) c.1141C>A (p.His381Asn) c.*641C>A (n.*641C>A) c.808C>A (p.His270Asn) c.1267C>A (p.His423Asn) c.1159C>A (p.His387Asn) c.1312C>A (p.His438Asn) c.1264C>A (p.His422Asn) c.1147C>A (p.His383Asn) c.1129C>A (p.His377Asn) | dbSNP |
3 | g.69964982C= | CA1373414104 | MITF | c.1249C= (p.His417=) c.1246C= (p.His416=) n.1471C= c.1222C= (p.His408=) c.*60C= (n.*60C=) c.1315C= (p.His439=) c.994C= (p.His332=) c.1294C= (p.His432=) c.1297C= (p.His433=) c.976C= (p.His326=) c.1141C= (p.His381=) c.*641C= (n.*641C=) c.808C= (p.His270=) c.1267C= (p.His423=) c.1159C= (p.His387=) c.1312C= (p.His438=) c.1264C= (p.His422=) c.1147C= (p.His383=) c.1129C= (p.His377=) | |
3 | g.69964982C>G | CA2490639 | MITF | c.1249C>G (p.His417Asp) c.1246C>G (p.His416Asp) n.1471C>G c.1222C>G (p.His408Asp) c.*60C>G (n.*60C>G) c.1315C>G (p.His439Asp) c.994C>G (p.His332Asp) c.1294C>G (p.His432Asp) c.1297C>G (p.His433Asp) c.976C>G (p.His326Asp) c.1141C>G (p.His381Asp) c.*641C>G (n.*641C>G) c.808C>G (p.His270Asp) c.1267C>G (p.His423Asp) c.1159C>G (p.His387Asp) c.1312C>G (p.His438Asp) c.1264C>G (p.His422Asp) c.1147C>G (p.His383Asp) c.1129C>G (p.His377Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69964982C>T | CA353559592 | MITF | c.1249C>T (p.His417Tyr) c.1246C>T (p.His416Tyr) n.1471C>T c.1222C>T (p.His408Tyr) c.*60C>T (n.*60C>T) c.1315C>T (p.His439Tyr) c.994C>T (p.His332Tyr) c.1294C>T (p.His432Tyr) c.1297C>T (p.His433Tyr) c.976C>T (p.His326Tyr) c.1141C>T (p.His381Tyr) c.*641C>T (n.*641C>T) c.808C>T (p.His270Tyr) c.1267C>T (p.His423Tyr) c.1159C>T (p.His387Tyr) c.1312C>T (p.His438Tyr) c.1264C>T (p.His422Tyr) c.1147C>T (p.His383Tyr) c.1129C>T (p.His377Tyr) | gnomAD v4 |
3 | g.69964983A= | CA1373414107 | MITF | c.1250A= (p.His417=) c.1247A= (p.His416=) n.1472A= c.1223A= (p.His408=) c.*61A= (n.*61A=) c.1316A= (p.His439=) c.995A= (p.His332=) c.1295A= (p.His432=) c.1298A= (p.His433=) c.977A= (p.His326=) c.1142A= (p.His381=) c.*642A= (n.*642A=) c.809A= (p.His270=) c.1268A= (p.His423=) c.1160A= (p.His387=) c.1313A= (p.His438=) c.1265A= (p.His422=) c.1148A= (p.His383=) c.1130A= (p.His377=) | |
3 | g.69964983A>C | CA353559593 | MITF | c.1250A>C (p.His417Pro) c.1247A>C (p.His416Pro) n.1472A>C c.1223A>C (p.His408Pro) c.*61A>C (n.*61A>C) c.1316A>C (p.His439Pro) c.995A>C (p.His332Pro) c.1295A>C (p.His432Pro) c.1298A>C (p.His433Pro) c.977A>C (p.His326Pro) c.1142A>C (p.His381Pro) c.*642A>C (n.*642A>C) c.809A>C (p.His270Pro) c.1268A>C (p.His423Pro) c.1160A>C (p.His387Pro) c.1313A>C (p.His438Pro) c.1265A>C (p.His422Pro) c.1148A>C (p.His383Pro) c.1130A>C (p.His377Pro) | |
3 | g.69964983A>G | CA2490640 | MITF | c.1250A>G (p.His417Arg) c.1247A>G (p.His416Arg) n.1472A>G c.1223A>G (p.His408Arg) c.*61A>G (n.*61A>G) c.1316A>G (p.His439Arg) c.995A>G (p.His332Arg) c.1295A>G (p.His432Arg) c.1298A>G (p.His433Arg) c.977A>G (p.His326Arg) c.1142A>G (p.His381Arg) c.*642A>G (n.*642A>G) c.809A>G (p.His270Arg) c.1268A>G (p.His423Arg) c.1160A>G (p.His387Arg) c.1313A>G (p.His438Arg) c.1265A>G (p.His422Arg) c.1148A>G (p.His383Arg) c.1130A>G (p.His377Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69964983A>T | CA353559594 | MITF | c.1250A>T (p.His417Leu) c.1247A>T (p.His416Leu) n.1472A>T c.1223A>T (p.His408Leu) c.*61A>T (n.*61A>T) c.1316A>T (p.His439Leu) c.995A>T (p.His332Leu) c.1295A>T (p.His432Leu) c.1298A>T (p.His433Leu) c.977A>T (p.His326Leu) c.1142A>T (p.His381Leu) c.*642A>T (n.*642A>T) c.809A>T (p.His270Leu) c.1268A>T (p.His423Leu) c.1160A>T (p.His387Leu) c.1313A>T (p.His438Leu) c.1265A>T (p.His422Leu) c.1148A>T (p.His383Leu) c.1130A>T (p.His377Leu) | |
3 | g.69964984T>A | CA353559596 | MITF | c.1251T>A (p.His417Gln) c.1248T>A (p.His416Gln) n.1473T>A c.1224T>A (p.His408Gln) c.*62T>A (n.*62T>A) c.1317T>A (p.His439Gln) c.996T>A (p.His332Gln) c.1296T>A (p.His432Gln) c.1299T>A (p.His433Gln) c.978T>A (p.His326Gln) c.1143T>A (p.His381Gln) c.*643T>A (n.*643T>A) c.810T>A (p.His270Gln) c.1269T>A (p.His423Gln) c.1161T>A (p.His387Gln) c.1314T>A (p.His438Gln) c.1266T>A (p.His422Gln) c.1149T>A (p.His383Gln) c.1131T>A (p.His377Gln) | |
3 | g.69964984T>C | CA434433676 | MITF | c.1251T>C (p.His417=) c.1248T>C (p.His416=) n.1473T>C c.1224T>C (p.His408=) c.*62T>C (n.*62T>C) c.1317T>C (p.His439=) c.996T>C (p.His332=) c.1296T>C (p.His432=) c.1299T>C (p.His433=) c.978T>C (p.His326=) c.1143T>C (p.His381=) c.*643T>C (n.*643T>C) c.810T>C (p.His270=) c.1269T>C (p.His423=) c.1161T>C (p.His387=) c.1314T>C (p.His438=) c.1266T>C (p.His422=) c.1149T>C (p.His383=) c.1131T>C (p.His377=) | ClinVar |
3 | g.69964984T>G | CA353559595 | MITF | c.1251T>G (p.His417Gln) c.1248T>G (p.His416Gln) n.1473T>G c.1224T>G (p.His408Gln) c.*62T>G (n.*62T>G) c.1317T>G (p.His439Gln) c.996T>G (p.His332Gln) c.1296T>G (p.His432Gln) c.1299T>G (p.His433Gln) c.978T>G (p.His326Gln) c.1143T>G (p.His381Gln) c.*643T>G (n.*643T>G) c.810T>G (p.His270Gln) c.1269T>G (p.His423Gln) c.1161T>G (p.His387Gln) c.1314T>G (p.His438Gln) c.1266T>G (p.His422Gln) c.1149T>G (p.His383Gln) c.1131T>G (p.His377Gln) | |
3 | g.69964985G>A | CA353559597 | MITF | c.1252G>A (p.Ala418Thr) c.1249G>A (p.Ala417Thr) n.1474G>A c.1225G>A (p.Ala409Thr) c.*63G>A (n.*63G>A) c.1318G>A (p.Ala440Thr) c.997G>A (p.Ala333Thr) c.1297G>A (p.Ala433Thr) c.1300G>A (p.Ala434Thr) c.979G>A (p.Ala327Thr) c.1144G>A (p.Ala382Thr) c.*644G>A (n.*644G>A) c.811G>A (p.Ala271Thr) c.1270G>A (p.Ala424Thr) c.1162G>A (p.Ala388Thr) c.1315G>A (p.Ala439Thr) c.1267G>A (p.Ala423Thr) c.1150G>A (p.Ala384Thr) c.1132G>A (p.Ala378Thr) | dbSNP |
3 | g.69964985G>C | CA353559599 | MITF | c.1252G>C (p.Ala418Pro) c.1249G>C (p.Ala417Pro) n.1474G>C c.1225G>C (p.Ala409Pro) c.*63G>C (n.*63G>C) c.1318G>C (p.Ala440Pro) c.997G>C (p.Ala333Pro) c.1297G>C (p.Ala433Pro) c.1300G>C (p.Ala434Pro) c.979G>C (p.Ala327Pro) c.1144G>C (p.Ala382Pro) c.*644G>C (n.*644G>C) c.811G>C (p.Ala271Pro) c.1270G>C (p.Ala424Pro) c.1162G>C (p.Ala388Pro) c.1315G>C (p.Ala439Pro) c.1267G>C (p.Ala423Pro) c.1150G>C (p.Ala384Pro) c.1132G>C (p.Ala378Pro) | |
3 | g.69964985G>T | CA353559598 | MITF | c.1252G>T (p.Ala418Ser) c.1249G>T (p.Ala417Ser) n.1474G>T c.1225G>T (p.Ala409Ser) c.*63G>T (n.*63G>T) c.1318G>T (p.Ala440Ser) c.997G>T (p.Ala333Ser) c.1297G>T (p.Ala433Ser) c.1300G>T (p.Ala434Ser) c.979G>T (p.Ala327Ser) c.1144G>T (p.Ala382Ser) c.*644G>T (n.*644G>T) c.811G>T (p.Ala271Ser) c.1270G>T (p.Ala424Ser) c.1162G>T (p.Ala388Ser) c.1315G>T (p.Ala439Ser) c.1267G>T (p.Ala423Ser) c.1150G>T (p.Ala384Ser) c.1132G>T (p.Ala378Ser) | |
3 | g.69964986C>A | CA353559600 | MITF | c.1253C>A (p.Ala418Glu) c.1250C>A (p.Ala417Glu) n.1475C>A c.1226C>A (p.Ala409Glu) c.*64C>A (n.*64C>A) c.1319C>A (p.Ala440Glu) c.998C>A (p.Ala333Glu) c.1298C>A (p.Ala433Glu) c.1301C>A (p.Ala434Glu) c.980C>A (p.Ala327Glu) c.1145C>A (p.Ala382Glu) c.*645C>A (n.*645C>A) c.812C>A (p.Ala271Glu) c.1271C>A (p.Ala424Glu) c.1163C>A (p.Ala388Glu) c.1316C>A (p.Ala439Glu) c.1268C>A (p.Ala423Glu) c.1151C>A (p.Ala384Glu) c.1133C>A (p.Ala378Glu) | |
3 | g.69964986C= | CA1373414109 | MITF | c.1253C= (p.Ala418=) c.1250C= (p.Ala417=) n.1475C= c.1226C= (p.Ala409=) c.*64C= (n.*64C=) c.1319C= (p.Ala440=) c.998C= (p.Ala333=) c.1298C= (p.Ala433=) c.1301C= (p.Ala434=) c.980C= (p.Ala327=) c.1145C= (p.Ala382=) c.*645C= (n.*645C=) c.812C= (p.Ala271=) c.1271C= (p.Ala424=) c.1163C= (p.Ala388=) c.1316C= (p.Ala439=) c.1268C= (p.Ala423=) c.1151C= (p.Ala384=) c.1133C= (p.Ala378=) | |
3 | g.69964986C>G | CA353559601 | MITF | c.1253C>G (p.Ala418Gly) c.1250C>G (p.Ala417Gly) n.1475C>G c.1226C>G (p.Ala409Gly) c.*64C>G (n.*64C>G) c.1319C>G (p.Ala440Gly) c.998C>G (p.Ala333Gly) c.1298C>G (p.Ala433Gly) c.1301C>G (p.Ala434Gly) c.980C>G (p.Ala327Gly) c.1145C>G (p.Ala382Gly) c.*645C>G (n.*645C>G) c.812C>G (p.Ala271Gly) c.1271C>G (p.Ala424Gly) c.1163C>G (p.Ala388Gly) c.1316C>G (p.Ala439Gly) c.1268C>G (p.Ala423Gly) c.1151C>G (p.Ala384Gly) c.1133C>G (p.Ala378Gly) | gnomAD v4 |
3 | g.69964986C>T | CA353559602 | MITF | c.1253C>T (p.Ala418Val) c.1250C>T (p.Ala417Val) n.1475C>T c.1226C>T (p.Ala409Val) c.*64C>T (n.*64C>T) c.1319C>T (p.Ala440Val) c.998C>T (p.Ala333Val) c.1298C>T (p.Ala433Val) c.1301C>T (p.Ala434Val) c.980C>T (p.Ala327Val) c.1145C>T (p.Ala382Val) c.*645C>T (n.*645C>T) c.812C>T (p.Ala271Val) c.1271C>T (p.Ala424Val) c.1163C>T (p.Ala388Val) c.1316C>T (p.Ala439Val) c.1268C>T (p.Ala423Val) c.1151C>T (p.Ala384Val) c.1133C>T (p.Ala378Val) | dbSNP |
3 | g.69964987A= | CA1373414114 | MITF | c.1254A= (p.Ala418=) c.1251A= (p.Ala417=) n.1476A= c.1227A= (p.Ala409=) c.*65A= (n.*65A=) c.1320A= (p.Ala440=) c.999A= (p.Ala333=) c.1299A= (p.Ala433=) c.1302A= (p.Ala434=) c.981A= (p.Ala327=) c.1146A= (p.Ala382=) c.*646A= (n.*646A=) c.813A= (p.Ala271=) c.1272A= (p.Ala424=) c.1164A= (p.Ala388=) c.1317A= (p.Ala439=) c.1269A= (p.Ala423=) c.1152A= (p.Ala384=) c.1134A= (p.Ala378=) | |
3 | g.69964987A>C | CA434433680 | MITF | c.1254A>C (p.Ala418=) c.1251A>C (p.Ala417=) n.1476A>C c.1227A>C (p.Ala409=) c.*65A>C (n.*65A>C) c.1320A>C (p.Ala440=) c.999A>C (p.Ala333=) c.1299A>C (p.Ala433=) c.1302A>C (p.Ala434=) c.981A>C (p.Ala327=) c.1146A>C (p.Ala382=) c.*646A>C (n.*646A>C) c.813A>C (p.Ala271=) c.1272A>C (p.Ala424=) c.1164A>C (p.Ala388=) c.1317A>C (p.Ala439=) c.1269A>C (p.Ala423=) c.1152A>C (p.Ala384=) c.1134A>C (p.Ala378=) | |
3 | g.69964987A>G | CA434433679 | MITF | c.1254A>G (p.Ala418=) c.1251A>G (p.Ala417=) n.1476A>G c.1227A>G (p.Ala409=) c.*65A>G (n.*65A>G) c.1320A>G (p.Ala440=) c.999A>G (p.Ala333=) c.1299A>G (p.Ala433=) c.1302A>G (p.Ala434=) c.981A>G (p.Ala327=) c.1146A>G (p.Ala382=) c.*646A>G (n.*646A>G) c.813A>G (p.Ala271=) c.1272A>G (p.Ala424=) c.1164A>G (p.Ala388=) c.1317A>G (p.Ala439=) c.1269A>G (p.Ala423=) c.1152A>G (p.Ala384=) c.1134A>G (p.Ala378=) | |
3 | g.69964987A>T | CA10616570 | MITF | c.1254A>T (p.Ala418=) c.1251A>T (p.Ala417=) n.1476A>T c.1227A>T (p.Ala409=) c.*65A>T (n.*65A>T) c.1320A>T (p.Ala440=) c.999A>T (p.Ala333=) c.1299A>T (p.Ala433=) c.1302A>T (p.Ala434=) c.981A>T (p.Ala327=) c.1146A>T (p.Ala382=) c.*646A>T (n.*646A>T) c.813A>T (p.Ala271=) c.1272A>T (p.Ala424=) c.1164A>T (p.Ala388=) c.1317A>T (p.Ala439=) c.1269A>T (p.Ala423=) c.1152A>T (p.Ala384=) c.1134A>T (p.Ala378=) | ClinVar dbSNP |
3 | g.69964988G>A | CA353559603 | MITF | c.1255G>A (p.Asp419Asn) c.1252G>A (p.Asp418Asn) n.1477G>A c.1228G>A (p.Asp410Asn) c.*66G>A (n.*66G>A) c.1321G>A (p.Asp441Asn) c.1000G>A (p.Asp334Asn) c.1300G>A (p.Asp434Asn) c.1303G>A (p.Asp435Asn) c.982G>A (p.Asp328Asn) c.1147G>A (p.Asp383Asn) c.*647G>A (n.*647G>A) c.814G>A (p.Asp272Asn) c.1273G>A (p.Asp425Asn) c.1165G>A (p.Asp389Asn) c.1318G>A (p.Asp440Asn) c.1270G>A (p.Asp424Asn) c.1153G>A (p.Asp385Asn) c.1135G>A (p.Asp379Asn) | dbSNP gnomAD v4 |
3 | g.69964988G>C | CA353559604 | MITF | c.1255G>C (p.Asp419His) c.1252G>C (p.Asp418His) n.1477G>C c.1228G>C (p.Asp410His) c.*66G>C (n.*66G>C) c.1321G>C (p.Asp441His) c.1000G>C (p.Asp334His) c.1300G>C (p.Asp434His) c.1303G>C (p.Asp435His) c.982G>C (p.Asp328His) c.1147G>C (p.Asp383His) c.*647G>C (n.*647G>C) c.814G>C (p.Asp272His) c.1273G>C (p.Asp425His) c.1165G>C (p.Asp389His) c.1318G>C (p.Asp440His) c.1270G>C (p.Asp424His) c.1153G>C (p.Asp385His) c.1135G>C (p.Asp379His) | |
3 | g.69964988G= | CA1373414117 | MITF | c.1255G= (p.Asp419=) c.1252G= (p.Asp418=) n.1477G= c.1228G= (p.Asp410=) c.*66G= (n.*66G=) c.1321G= (p.Asp441=) c.1000G= (p.Asp334=) c.1300G= (p.Asp434=) c.1303G= (p.Asp435=) c.982G= (p.Asp328=) c.1147G= (p.Asp383=) c.*647G= (n.*647G=) c.814G= (p.Asp272=) c.1273G= (p.Asp425=) c.1165G= (p.Asp389=) c.1318G= (p.Asp440=) c.1270G= (p.Asp424=) c.1153G= (p.Asp385=) c.1135G= (p.Asp379=) | |
3 | g.69964988G>T | CA353559605 | MITF | c.1255G>T (p.Asp419Tyr) c.1252G>T (p.Asp418Tyr) n.1477G>T c.1228G>T (p.Asp410Tyr) c.*66G>T (n.*66G>T) c.1321G>T (p.Asp441Tyr) c.1000G>T (p.Asp334Tyr) c.1300G>T (p.Asp434Tyr) c.1303G>T (p.Asp435Tyr) c.982G>T (p.Asp328Tyr) c.1147G>T (p.Asp383Tyr) c.*647G>T (n.*647G>T) c.814G>T (p.Asp272Tyr) c.1273G>T (p.Asp425Tyr) c.1165G>T (p.Asp389Tyr) c.1318G>T (p.Asp440Tyr) c.1270G>T (p.Asp424Tyr) c.1153G>T (p.Asp385Tyr) c.1135G>T (p.Asp379Tyr) | |
3 | g.69964989A>C | CA353559606 | MITF | c.1256A>C (p.Asp419Ala) c.1253A>C (p.Asp418Ala) n.1478A>C c.1229A>C (p.Asp410Ala) c.*67A>C (n.*67A>C) c.1322A>C (p.Asp441Ala) c.1001A>C (p.Asp334Ala) c.1301A>C (p.Asp434Ala) c.1304A>C (p.Asp435Ala) c.983A>C (p.Asp328Ala) c.1148A>C (p.Asp383Ala) c.*648A>C (n.*648A>C) c.815A>C (p.Asp272Ala) c.1274A>C (p.Asp425Ala) c.1166A>C (p.Asp389Ala) c.1319A>C (p.Asp440Ala) c.1271A>C (p.Asp424Ala) c.1154A>C (p.Asp385Ala) c.1136A>C (p.Asp379Ala) | gnomAD v4 |
3 | g.69964989A>G | CA353559607 | MITF | c.1256A>G (p.Asp419Gly) c.1253A>G (p.Asp418Gly) n.1478A>G c.1229A>G (p.Asp410Gly) c.*67A>G (n.*67A>G) c.1322A>G (p.Asp441Gly) c.1001A>G (p.Asp334Gly) c.1301A>G (p.Asp434Gly) c.1304A>G (p.Asp435Gly) c.983A>G (p.Asp328Gly) c.1148A>G (p.Asp383Gly) c.*648A>G (n.*648A>G) c.815A>G (p.Asp272Gly) c.1274A>G (p.Asp425Gly) c.1166A>G (p.Asp389Gly) c.1319A>G (p.Asp440Gly) c.1271A>G (p.Asp424Gly) c.1154A>G (p.Asp385Gly) c.1136A>G (p.Asp379Gly) | |
3 | g.69964989A>T | CA353559608 | MITF | c.1256A>T (p.Asp419Val) c.1253A>T (p.Asp418Val) n.1478A>T c.1229A>T (p.Asp410Val) c.*67A>T (n.*67A>T) c.1322A>T (p.Asp441Val) c.1001A>T (p.Asp334Val) c.1301A>T (p.Asp434Val) c.1304A>T (p.Asp435Val) c.983A>T (p.Asp328Val) c.1148A>T (p.Asp383Val) c.*648A>T (n.*648A>T) c.815A>T (p.Asp272Val) c.1274A>T (p.Asp425Val) c.1166A>T (p.Asp389Val) c.1319A>T (p.Asp440Val) c.1271A>T (p.Asp424Val) c.1154A>T (p.Asp385Val) c.1136A>T (p.Asp379Val) | dbSNP |
3 | g.69964990C>A | CA353559609 | MITF | c.1257C>A (p.Asp419Glu) c.1254C>A (p.Asp418Glu) n.1479C>A c.1230C>A (p.Asp410Glu) c.*68C>A (n.*68C>A) c.1323C>A (p.Asp441Glu) c.1002C>A (p.Asp334Glu) c.1302C>A (p.Asp434Glu) c.1305C>A (p.Asp435Glu) c.984C>A (p.Asp328Glu) c.1149C>A (p.Asp383Glu) c.*649C>A (n.*649C>A) c.816C>A (p.Asp272Glu) c.1275C>A (p.Asp425Glu) c.1167C>A (p.Asp389Glu) c.1320C>A (p.Asp440Glu) c.1272C>A (p.Asp424Glu) c.1155C>A (p.Asp385Glu) c.1137C>A (p.Asp379Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964990C= | CA1373414120 | MITF | c.1257C= (p.Asp419=) c.1254C= (p.Asp418=) n.1479C= c.1230C= (p.Asp410=) c.*68C= (n.*68C=) c.1323C= (p.Asp441=) c.1002C= (p.Asp334=) c.1302C= (p.Asp434=) c.1305C= (p.Asp435=) c.984C= (p.Asp328=) c.1149C= (p.Asp383=) c.*649C= (n.*649C=) c.816C= (p.Asp272=) c.1275C= (p.Asp425=) c.1167C= (p.Asp389=) c.1320C= (p.Asp440=) c.1272C= (p.Asp424=) c.1155C= (p.Asp385=) c.1137C= (p.Asp379=) | |
3 | g.69964990C>G | CA353559610 | MITF | c.1257C>G (p.Asp419Glu) c.1254C>G (p.Asp418Glu) n.1479C>G c.1230C>G (p.Asp410Glu) c.*68C>G (n.*68C>G) c.1323C>G (p.Asp441Glu) c.1002C>G (p.Asp334Glu) c.1302C>G (p.Asp434Glu) c.1305C>G (p.Asp435Glu) c.984C>G (p.Asp328Glu) c.1149C>G (p.Asp383Glu) c.*649C>G (n.*649C>G) c.816C>G (p.Asp272Glu) c.1275C>G (p.Asp425Glu) c.1167C>G (p.Asp389Glu) c.1320C>G (p.Asp440Glu) c.1272C>G (p.Asp424Glu) c.1155C>G (p.Asp385Glu) c.1137C>G (p.Asp379Glu) | dbSNP |
3 | g.69964990C>T | CA434433681 | MITF | c.1257C>T (p.Asp419=) c.1254C>T (p.Asp418=) n.1479C>T c.1230C>T (p.Asp410=) c.*68C>T (n.*68C>T) c.1323C>T (p.Asp441=) c.1002C>T (p.Asp334=) c.1302C>T (p.Asp434=) c.1305C>T (p.Asp435=) c.984C>T (p.Asp328=) c.1149C>T (p.Asp383=) c.*649C>T (n.*649C>T) c.816C>T (p.Asp272=) c.1275C>T (p.Asp425=) c.1167C>T (p.Asp389=) c.1320C>T (p.Asp440=) c.1272C>T (p.Asp424=) c.1155C>T (p.Asp385=) c.1137C>T (p.Asp379=) | |
3 | g.69964991C>A | CA353559612 | MITF | c.1258C>A (p.Leu420Ile) c.1255C>A (p.Leu419Ile) n.1480C>A c.1231C>A (p.Leu411Ile) c.*69C>A (n.*69C>A) c.1324C>A (p.Leu442Ile) c.1003C>A (p.Leu335Ile) c.1303C>A (p.Leu435Ile) c.1306C>A (p.Leu436Ile) c.985C>A (p.Leu329Ile) c.1150C>A (p.Leu384Ile) c.*650C>A (n.*650C>A) c.817C>A (p.Leu273Ile) c.1276C>A (p.Leu426Ile) c.1168C>A (p.Leu390Ile) c.1321C>A (p.Leu441Ile) c.1273C>A (p.Leu425Ile) c.1156C>A (p.Leu386Ile) c.1138C>A (p.Leu380Ile) | dbSNP |
3 | g.69964991C>G | CA353559611 | MITF | c.1258C>G (p.Leu420Val) c.1255C>G (p.Leu419Val) n.1480C>G c.1231C>G (p.Leu411Val) c.*69C>G (n.*69C>G) c.1324C>G (p.Leu442Val) c.1003C>G (p.Leu335Val) c.1303C>G (p.Leu435Val) c.1306C>G (p.Leu436Val) c.985C>G (p.Leu329Val) c.1150C>G (p.Leu384Val) c.*650C>G (n.*650C>G) c.817C>G (p.Leu273Val) c.1276C>G (p.Leu426Val) c.1168C>G (p.Leu390Val) c.1321C>G (p.Leu441Val) c.1273C>G (p.Leu425Val) c.1156C>G (p.Leu386Val) c.1138C>G (p.Leu380Val) | |
3 | g.69964991C>T | CA434433685 | MITF | c.1258C>T (p.Leu420=) c.1255C>T (p.Leu419=) n.1480C>T c.1231C>T (p.Leu411=) c.*69C>T (n.*69C>T) c.1324C>T (p.Leu442=) c.1003C>T (p.Leu335=) c.1303C>T (p.Leu435=) c.1306C>T (p.Leu436=) c.985C>T (p.Leu329=) c.1150C>T (p.Leu384=) c.*650C>T (n.*650C>T) c.817C>T (p.Leu273=) c.1276C>T (p.Leu426=) c.1168C>T (p.Leu390=) c.1321C>T (p.Leu441=) c.1273C>T (p.Leu425=) c.1156C>T (p.Leu386=) c.1138C>T (p.Leu380=) | |
3 | g.69964992T>A | CA353559613 | MITF | c.1259T>A (p.Leu420Gln) c.1256T>A (p.Leu419Gln) n.1481T>A c.1232T>A (p.Leu411Gln) c.*70T>A (n.*70T>A) c.1325T>A (p.Leu442Gln) c.1004T>A (p.Leu335Gln) c.1304T>A (p.Leu435Gln) c.1307T>A (p.Leu436Gln) c.986T>A (p.Leu329Gln) c.1151T>A (p.Leu384Gln) c.*651T>A (n.*651T>A) c.818T>A (p.Leu273Gln) c.1277T>A (p.Leu426Gln) c.1169T>A (p.Leu390Gln) c.1322T>A (p.Leu441Gln) c.1274T>A (p.Leu425Gln) c.1157T>A (p.Leu386Gln) c.1139T>A (p.Leu380Gln) | |
3 | g.69964992T>C | CA353559614 | MITF | c.1259T>C (p.Leu420Pro) c.1256T>C (p.Leu419Pro) n.1481T>C c.1232T>C (p.Leu411Pro) c.*70T>C (n.*70T>C) c.1325T>C (p.Leu442Pro) c.1004T>C (p.Leu335Pro) c.1304T>C (p.Leu435Pro) c.1307T>C (p.Leu436Pro) c.986T>C (p.Leu329Pro) c.1151T>C (p.Leu384Pro) c.*651T>C (n.*651T>C) c.818T>C (p.Leu273Pro) c.1277T>C (p.Leu426Pro) c.1169T>C (p.Leu390Pro) c.1322T>C (p.Leu441Pro) c.1274T>C (p.Leu425Pro) c.1157T>C (p.Leu386Pro) c.1139T>C (p.Leu380Pro) | |
3 | g.69964992T>G | CA353559615 | MITF | c.1259T>G (p.Leu420Arg) c.1256T>G (p.Leu419Arg) n.1481T>G c.1232T>G (p.Leu411Arg) c.*70T>G (n.*70T>G) c.1325T>G (p.Leu442Arg) c.1004T>G (p.Leu335Arg) c.1304T>G (p.Leu435Arg) c.1307T>G (p.Leu436Arg) c.986T>G (p.Leu329Arg) c.1151T>G (p.Leu384Arg) c.*651T>G (n.*651T>G) c.818T>G (p.Leu273Arg) c.1277T>G (p.Leu426Arg) c.1169T>G (p.Leu390Arg) c.1322T>G (p.Leu441Arg) c.1274T>G (p.Leu425Arg) c.1157T>G (p.Leu386Arg) c.1139T>G (p.Leu380Arg) | |
3 | g.69964993A>C | CA434433688 | MITF | c.1260A>C (p.Leu420=) c.1257A>C (p.Leu419=) n.1482A>C c.1233A>C (p.Leu411=) c.*71A>C (n.*71A>C) c.1326A>C (p.Leu442=) c.1005A>C (p.Leu335=) c.1305A>C (p.Leu435=) c.1308A>C (p.Leu436=) c.987A>C (p.Leu329=) c.1152A>C (p.Leu384=) c.*652A>C (n.*652A>C) c.819A>C (p.Leu273=) c.1278A>C (p.Leu426=) c.1170A>C (p.Leu390=) c.1323A>C (p.Leu441=) c.1275A>C (p.Leu425=) c.1158A>C (p.Leu386=) c.1140A>C (p.Leu380=) | |
3 | g.69964993A>G | CA434433690 | MITF | c.1260A>G (p.Leu420=) c.1257A>G (p.Leu419=) n.1482A>G c.1233A>G (p.Leu411=) c.*71A>G (n.*71A>G) c.1326A>G (p.Leu442=) c.1005A>G (p.Leu335=) c.1305A>G (p.Leu435=) c.1308A>G (p.Leu436=) c.987A>G (p.Leu329=) c.1152A>G (p.Leu384=) c.*652A>G (n.*652A>G) c.819A>G (p.Leu273=) c.1278A>G (p.Leu426=) c.1170A>G (p.Leu390=) c.1323A>G (p.Leu441=) c.1275A>G (p.Leu425=) c.1158A>G (p.Leu386=) c.1140A>G (p.Leu380=) | |
3 | g.69964993A>T | CA434433689 | MITF | c.1260A>T (p.Leu420=) c.1257A>T (p.Leu419=) n.1482A>T c.1233A>T (p.Leu411=) c.*71A>T (n.*71A>T) c.1326A>T (p.Leu442=) c.1005A>T (p.Leu335=) c.1305A>T (p.Leu435=) c.1308A>T (p.Leu436=) c.987A>T (p.Leu329=) c.1152A>T (p.Leu384=) c.*652A>T (n.*652A>T) c.819A>T (p.Leu273=) c.1278A>T (p.Leu426=) c.1170A>T (p.Leu390=) c.1323A>T (p.Leu441=) c.1275A>T (p.Leu425=) c.1158A>T (p.Leu386=) c.1140A>T (p.Leu380=) | |
3 | g.69964994A>C | CA353559616 | MITF | c.1261A>C (p.Thr421Pro) c.1258A>C (p.Thr420Pro) n.1483A>C c.1234A>C (p.Thr412Pro) c.*72A>C (n.*72A>C) c.1327A>C (p.Thr443Pro) c.1006A>C (p.Thr336Pro) c.1306A>C (p.Thr436Pro) c.1309A>C (p.Thr437Pro) c.988A>C (p.Thr330Pro) c.1153A>C (p.Thr385Pro) c.*653A>C (n.*653A>C) c.820A>C (p.Thr274Pro) c.1279A>C (p.Thr427Pro) c.1171A>C (p.Thr391Pro) c.1324A>C (p.Thr442Pro) c.1276A>C (p.Thr426Pro) c.1159A>C (p.Thr387Pro) c.1141A>C (p.Thr381Pro) | |
3 | g.69964994A>G | CA353559617 | MITF | c.1261A>G (p.Thr421Ala) c.1258A>G (p.Thr420Ala) n.1483A>G c.1234A>G (p.Thr412Ala) c.*72A>G (n.*72A>G) c.1327A>G (p.Thr443Ala) c.1006A>G (p.Thr336Ala) c.1306A>G (p.Thr436Ala) c.1309A>G (p.Thr437Ala) c.988A>G (p.Thr330Ala) c.1153A>G (p.Thr385Ala) c.*653A>G (n.*653A>G) c.820A>G (p.Thr274Ala) c.1279A>G (p.Thr427Ala) c.1171A>G (p.Thr391Ala) c.1324A>G (p.Thr442Ala) c.1276A>G (p.Thr426Ala) c.1159A>G (p.Thr387Ala) c.1141A>G (p.Thr381Ala) | |
3 | g.69964994A>T | CA353559618 | MITF | c.1261A>T (p.Thr421Ser) c.1258A>T (p.Thr420Ser) n.1483A>T c.1234A>T (p.Thr412Ser) c.*72A>T (n.*72A>T) c.1327A>T (p.Thr443Ser) c.1006A>T (p.Thr336Ser) c.1306A>T (p.Thr436Ser) c.1309A>T (p.Thr437Ser) c.988A>T (p.Thr330Ser) c.1153A>T (p.Thr385Ser) c.*653A>T (n.*653A>T) c.820A>T (p.Thr274Ser) c.1279A>T (p.Thr427Ser) c.1171A>T (p.Thr391Ser) c.1324A>T (p.Thr442Ser) c.1276A>T (p.Thr426Ser) c.1159A>T (p.Thr387Ser) c.1141A>T (p.Thr381Ser) | |
3 | g.69964995C>A | CA353559619 | MITF | c.1262C>A (p.Thr421Asn) c.1259C>A (p.Thr420Asn) n.1484C>A c.1235C>A (p.Thr412Asn) c.*73C>A (n.*73C>A) c.1328C>A (p.Thr443Asn) c.1007C>A (p.Thr336Asn) c.1307C>A (p.Thr436Asn) c.1310C>A (p.Thr437Asn) c.989C>A (p.Thr330Asn) c.1154C>A (p.Thr385Asn) c.*654C>A (n.*654C>A) c.821C>A (p.Thr274Asn) c.1280C>A (p.Thr427Asn) c.1172C>A (p.Thr391Asn) c.1325C>A (p.Thr442Asn) c.1277C>A (p.Thr426Asn) c.1160C>A (p.Thr387Asn) c.1142C>A (p.Thr381Asn) | |
3 | g.69964995C= | CA1373414122 | MITF | c.1262C= (p.Thr421=) c.1259C= (p.Thr420=) n.1484C= c.1235C= (p.Thr412=) c.*73C= (n.*73C=) c.1328C= (p.Thr443=) c.1007C= (p.Thr336=) c.1307C= (p.Thr436=) c.1310C= (p.Thr437=) c.989C= (p.Thr330=) c.1154C= (p.Thr385=) c.*654C= (n.*654C=) c.821C= (p.Thr274=) c.1280C= (p.Thr427=) c.1172C= (p.Thr391=) c.1325C= (p.Thr442=) c.1277C= (p.Thr426=) c.1160C= (p.Thr387=) c.1142C= (p.Thr381=) | |
3 | g.69964995C>G | CA353559620 | MITF | c.1262C>G (p.Thr421Ser) c.1259C>G (p.Thr420Ser) n.1484C>G c.1235C>G (p.Thr412Ser) c.*73C>G (n.*73C>G) c.1328C>G (p.Thr443Ser) c.1007C>G (p.Thr336Ser) c.1307C>G (p.Thr436Ser) c.1310C>G (p.Thr437Ser) c.989C>G (p.Thr330Ser) c.1154C>G (p.Thr385Ser) c.*654C>G (n.*654C>G) c.821C>G (p.Thr274Ser) c.1280C>G (p.Thr427Ser) c.1172C>G (p.Thr391Ser) c.1325C>G (p.Thr442Ser) c.1277C>G (p.Thr426Ser) c.1160C>G (p.Thr387Ser) c.1142C>G (p.Thr381Ser) | gnomAD v4 |
3 | g.69964995C>T | CA353559621 | MITF | c.1262C>T (p.Thr421Ile) c.1259C>T (p.Thr420Ile) n.1484C>T c.1235C>T (p.Thr412Ile) c.*73C>T (n.*73C>T) c.1328C>T (p.Thr443Ile) c.1007C>T (p.Thr336Ile) c.1307C>T (p.Thr436Ile) c.1310C>T (p.Thr437Ile) c.989C>T (p.Thr330Ile) c.1154C>T (p.Thr385Ile) c.*654C>T (n.*654C>T) c.821C>T (p.Thr274Ile) c.1280C>T (p.Thr427Ile) c.1172C>T (p.Thr391Ile) c.1325C>T (p.Thr442Ile) c.1277C>T (p.Thr426Ile) c.1160C>T (p.Thr387Ile) c.1142C>T (p.Thr381Ile) | |
3 | g.69964996C>A | CA434433692 | MITF | c.1263C>A (p.Thr421=) c.1260C>A (p.Thr420=) n.1485C>A c.1236C>A (p.Thr412=) c.*74C>A (n.*74C>A) c.1329C>A (p.Thr443=) c.1008C>A (p.Thr336=) c.1308C>A (p.Thr436=) c.1311C>A (p.Thr437=) c.990C>A (p.Thr330=) c.1155C>A (p.Thr385=) c.*655C>A (n.*655C>A) c.822C>A (p.Thr274=) c.1281C>A (p.Thr427=) c.1173C>A (p.Thr391=) c.1326C>A (p.Thr442=) c.1278C>A (p.Thr426=) c.1161C>A (p.Thr387=) c.1143C>A (p.Thr381=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69964996C>G | CA434433695 | MITF | c.1263C>G (p.Thr421=) c.1260C>G (p.Thr420=) n.1485C>G c.1236C>G (p.Thr412=) c.*74C>G (n.*74C>G) c.1329C>G (p.Thr443=) c.1008C>G (p.Thr336=) c.1308C>G (p.Thr436=) c.1311C>G (p.Thr437=) c.990C>G (p.Thr330=) c.1155C>G (p.Thr385=) c.*655C>G (n.*655C>G) c.822C>G (p.Thr274=) c.1281C>G (p.Thr427=) c.1173C>G (p.Thr391=) c.1326C>G (p.Thr442=) c.1278C>G (p.Thr426=) c.1161C>G (p.Thr387=) c.1143C>G (p.Thr381=) | |
3 | g.69964996C>T | CA434433697 | MITF | c.1263C>T (p.Thr421=) c.1260C>T (p.Thr420=) n.1485C>T c.1236C>T (p.Thr412=) c.*74C>T (n.*74C>T) c.1329C>T (p.Thr443=) c.1008C>T (p.Thr336=) c.1308C>T (p.Thr436=) c.1311C>T (p.Thr437=) c.990C>T (p.Thr330=) c.1155C>T (p.Thr385=) c.*655C>T (n.*655C>T) c.822C>T (p.Thr274=) c.1281C>T (p.Thr427=) c.1173C>T (p.Thr391=) c.1326C>T (p.Thr442=) c.1278C>T (p.Thr426=) c.1161C>T (p.Thr387=) c.1143C>T (p.Thr381=) | dbSNP gnomAD v4 |
3 | g.69964998_69965010dup | CA1139658160 | MITF | c.1265_1277dup (p.Asp427TyrfsTer22) c.1262_1274dup (p.Asp426TyrfsTer22) n.1487_1499dup c.1238_1250dup (p.Asp418TyrfsTer22) c.*76_*88dup (n.*76_*88dup) c.1331_1343dup (p.Asp449TyrfsTer22) c.1010_1022dup (p.Asp342TyrfsTer22) c.1310_1322dup (p.Asp442TyrfsTer22) c.1313_1325dup (p.Asp443TyrfsTer22) c.992_1004dup (p.Asp336TyrfsTer22) c.1157_1169dup (p.Asp391TyrfsTer22) c.*657_*669dup (n.*657_*669dup) c.824_836dup (p.Asp280TyrfsTer22) c.1283_1295dup (p.Asp433TyrfsTer22) c.1175_1187dup (p.Asp397TyrfsTer22) c.1328_1340dup (p.Asp448TyrfsTer22) c.1280_1292dup (p.Asp432TyrfsTer22) c.1163_1175dup (p.Asp393TyrfsTer22) c.1145_1157dup (p.Asp387TyrfsTer22) | ClinVar dbSNP |
3 | g.69964997T>A | CA353559622 | MITF | c.1264T>A (p.Cys422Ser) c.1261T>A (p.Cys421Ser) n.1486T>A c.1237T>A (p.Cys413Ser) c.*75T>A (n.*75T>A) c.1330T>A (p.Cys444Ser) c.1009T>A (p.Cys337Ser) c.1309T>A (p.Cys437Ser) c.1312T>A (p.Cys438Ser) c.991T>A (p.Cys331Ser) c.1156T>A (p.Cys386Ser) c.*656T>A (n.*656T>A) c.823T>A (p.Cys275Ser) c.1282T>A (p.Cys428Ser) c.1174T>A (p.Cys392Ser) c.1327T>A (p.Cys443Ser) c.1279T>A (p.Cys427Ser) c.1162T>A (p.Cys388Ser) c.1144T>A (p.Cys382Ser) | |
3 | g.69964997T>C | CA2490641 | MITF | c.1264T>C (p.Cys422Arg) c.1261T>C (p.Cys421Arg) n.1486T>C c.1237T>C (p.Cys413Arg) c.*75T>C (n.*75T>C) c.1330T>C (p.Cys444Arg) c.1009T>C (p.Cys337Arg) c.1309T>C (p.Cys437Arg) c.1312T>C (p.Cys438Arg) c.991T>C (p.Cys331Arg) c.1156T>C (p.Cys386Arg) c.*656T>C (n.*656T>C) c.823T>C (p.Cys275Arg) c.1282T>C (p.Cys428Arg) c.1174T>C (p.Cys392Arg) c.1327T>C (p.Cys443Arg) c.1279T>C (p.Cys427Arg) c.1162T>C (p.Cys388Arg) c.1144T>C (p.Cys382Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69964997T>G | CA353559623 | MITF | c.1264T>G (p.Cys422Gly) c.1261T>G (p.Cys421Gly) n.1486T>G c.1237T>G (p.Cys413Gly) c.*75T>G (n.*75T>G) c.1330T>G (p.Cys444Gly) c.1009T>G (p.Cys337Gly) c.1309T>G (p.Cys437Gly) c.1312T>G (p.Cys438Gly) c.991T>G (p.Cys331Gly) c.1156T>G (p.Cys386Gly) c.*656T>G (n.*656T>G) c.823T>G (p.Cys275Gly) c.1282T>G (p.Cys428Gly) c.1174T>G (p.Cys392Gly) c.1327T>G (p.Cys443Gly) c.1279T>G (p.Cys427Gly) c.1162T>G (p.Cys388Gly) c.1144T>G (p.Cys382Gly) | ClinVar dbSNP |
3 | g.69964997T= | CA1373414128 | MITF | c.1264T= (p.Cys422=) c.1261T= (p.Cys421=) n.1486T= c.1237T= (p.Cys413=) c.*75T= (n.*75T=) c.1330T= (p.Cys444=) c.1009T= (p.Cys337=) c.1309T= (p.Cys437=) c.1312T= (p.Cys438=) c.991T= (p.Cys331=) c.1156T= (p.Cys386=) c.*656T= (n.*656T=) c.823T= (p.Cys275=) c.1282T= (p.Cys428=) c.1174T= (p.Cys392=) c.1327T= (p.Cys443=) c.1279T= (p.Cys427=) c.1162T= (p.Cys388=) c.1144T= (p.Cys382=) | |
3 | g.69964998G>A | CA353559624 | MITF | c.1265G>A (p.Cys422Tyr) c.1262G>A (p.Cys421Tyr) n.1487G>A c.1238G>A (p.Cys413Tyr) c.*76G>A (n.*76G>A) c.1331G>A (p.Cys444Tyr) c.1010G>A (p.Cys337Tyr) c.1310G>A (p.Cys437Tyr) c.1313G>A (p.Cys438Tyr) c.992G>A (p.Cys331Tyr) c.1157G>A (p.Cys386Tyr) c.*657G>A (n.*657G>A) c.824G>A (p.Cys275Tyr) c.1283G>A (p.Cys428Tyr) c.1175G>A (p.Cys392Tyr) c.1328G>A (p.Cys443Tyr) c.1280G>A (p.Cys427Tyr) c.1163G>A (p.Cys388Tyr) c.1145G>A (p.Cys382Tyr) | dbSNP |
3 | g.69964998G>C | CA353559625 | MITF | c.1265G>C (p.Cys422Ser) c.1262G>C (p.Cys421Ser) n.1487G>C c.1238G>C (p.Cys413Ser) c.*76G>C (n.*76G>C) c.1331G>C (p.Cys444Ser) c.1010G>C (p.Cys337Ser) c.1310G>C (p.Cys437Ser) c.1313G>C (p.Cys438Ser) c.992G>C (p.Cys331Ser) c.1157G>C (p.Cys386Ser) c.*657G>C (n.*657G>C) c.824G>C (p.Cys275Ser) c.1283G>C (p.Cys428Ser) c.1175G>C (p.Cys392Ser) c.1328G>C (p.Cys443Ser) c.1280G>C (p.Cys427Ser) c.1163G>C (p.Cys388Ser) c.1145G>C (p.Cys382Ser) | |
3 | g.69964998G= | CA1373414133 | MITF | c.1265G= (p.Cys422=) c.1262G= (p.Cys421=) n.1487G= c.1238G= (p.Cys413=) c.*76G= (n.*76G=) c.1331G= (p.Cys444=) c.1010G= (p.Cys337=) c.1310G= (p.Cys437=) c.1313G= (p.Cys438=) c.992G= (p.Cys331=) c.1157G= (p.Cys386=) c.*657G= (n.*657G=) c.824G= (p.Cys275=) c.1283G= (p.Cys428=) c.1175G= (p.Cys392=) c.1328G= (p.Cys443=) c.1280G= (p.Cys427=) c.1163G= (p.Cys388=) c.1145G= (p.Cys382=) | |
3 | g.69964998G>T | CA77003522 | MITF | c.1265G>T (p.Cys422Phe) c.1262G>T (p.Cys421Phe) n.1487G>T c.1238G>T (p.Cys413Phe) c.*76G>T (n.*76G>T) c.1331G>T (p.Cys444Phe) c.1010G>T (p.Cys337Phe) c.1310G>T (p.Cys437Phe) c.1313G>T (p.Cys438Phe) c.992G>T (p.Cys331Phe) c.1157G>T (p.Cys386Phe) c.*657G>T (n.*657G>T) c.824G>T (p.Cys275Phe) c.1283G>T (p.Cys428Phe) c.1175G>T (p.Cys392Phe) c.1328G>T (p.Cys443Phe) c.1280G>T (p.Cys427Phe) c.1163G>T (p.Cys388Phe) c.1145G>T (p.Cys382Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.69964999T>A | CA353559626 | MITF | c.1266T>A (p.Cys422Ter) c.1263T>A (p.Cys421Ter) n.1488T>A c.1239T>A (p.Cys413Ter) c.*77T>A (n.*77T>A) c.1332T>A (p.Cys444Ter) c.1011T>A (p.Cys337Ter) c.1311T>A (p.Cys437Ter) c.1314T>A (p.Cys438Ter) c.993T>A (p.Cys331Ter) c.1158T>A (p.Cys386Ter) c.*658T>A (n.*658T>A) c.825T>A (p.Cys275Ter) c.1284T>A (p.Cys428Ter) c.1176T>A (p.Cys392Ter) c.1329T>A (p.Cys443Ter) c.1281T>A (p.Cys427Ter) c.1164T>A (p.Cys388Ter) c.1146T>A (p.Cys382Ter) | |
3 | g.69964999T>C | CA434433698 | MITF | c.1266T>C (p.Cys422=) c.1263T>C (p.Cys421=) n.1488T>C c.1239T>C (p.Cys413=) c.*77T>C (n.*77T>C) c.1332T>C (p.Cys444=) c.1011T>C (p.Cys337=) c.1311T>C (p.Cys437=) c.1314T>C (p.Cys438=) c.993T>C (p.Cys331=) c.1158T>C (p.Cys386=) c.*658T>C (n.*658T>C) c.825T>C (p.Cys275=) c.1284T>C (p.Cys428=) c.1176T>C (p.Cys392=) c.1329T>C (p.Cys443=) c.1281T>C (p.Cys427=) c.1164T>C (p.Cys388=) c.1146T>C (p.Cys382=) | |
3 | g.69964999T>G | CA353559627 | MITF | c.1266T>G (p.Cys422Trp) c.1263T>G (p.Cys421Trp) n.1488T>G c.1239T>G (p.Cys413Trp) c.*77T>G (n.*77T>G) c.1332T>G (p.Cys444Trp) c.1011T>G (p.Cys337Trp) c.1311T>G (p.Cys437Trp) c.1314T>G (p.Cys438Trp) c.993T>G (p.Cys331Trp) c.1158T>G (p.Cys386Trp) c.*658T>G (n.*658T>G) c.825T>G (p.Cys275Trp) c.1284T>G (p.Cys428Trp) c.1176T>G (p.Cys392Trp) c.1329T>G (p.Cys443Trp) c.1281T>G (p.Cys427Trp) c.1164T>G (p.Cys388Trp) c.1146T>G (p.Cys382Trp) | |
3 | g.69965000A>C | CA353559628 | MITF | c.1267A>C (p.Thr423Pro) c.1264A>C (p.Thr422Pro) n.1489A>C c.1240A>C (p.Thr414Pro) c.*78A>C (n.*78A>C) c.1333A>C (p.Thr445Pro) c.1012A>C (p.Thr338Pro) c.1312A>C (p.Thr438Pro) c.1315A>C (p.Thr439Pro) c.994A>C (p.Thr332Pro) c.1159A>C (p.Thr387Pro) c.*659A>C (n.*659A>C) c.826A>C (p.Thr276Pro) c.1285A>C (p.Thr429Pro) c.1177A>C (p.Thr393Pro) c.1330A>C (p.Thr444Pro) c.1282A>C (p.Thr428Pro) c.1165A>C (p.Thr389Pro) c.1147A>C (p.Thr383Pro) | |
3 | g.69965000A>G | CA353559629 | MITF | c.1267A>G (p.Thr423Ala) c.1264A>G (p.Thr422Ala) n.1489A>G c.1240A>G (p.Thr414Ala) c.*78A>G (n.*78A>G) c.1333A>G (p.Thr445Ala) c.1012A>G (p.Thr338Ala) c.1312A>G (p.Thr438Ala) c.1315A>G (p.Thr439Ala) c.994A>G (p.Thr332Ala) c.1159A>G (p.Thr387Ala) c.*659A>G (n.*659A>G) c.826A>G (p.Thr276Ala) c.1285A>G (p.Thr429Ala) c.1177A>G (p.Thr393Ala) c.1330A>G (p.Thr444Ala) c.1282A>G (p.Thr428Ala) c.1165A>G (p.Thr389Ala) c.1147A>G (p.Thr383Ala) | gnomAD v4 |
3 | g.69965000A>T | CA353559630 | MITF | c.1267A>T (p.Thr423Ser) c.1264A>T (p.Thr422Ser) n.1489A>T c.1240A>T (p.Thr414Ser) c.*78A>T (n.*78A>T) c.1333A>T (p.Thr445Ser) c.1012A>T (p.Thr338Ser) c.1312A>T (p.Thr438Ser) c.1315A>T (p.Thr439Ser) c.994A>T (p.Thr332Ser) c.1159A>T (p.Thr387Ser) c.*659A>T (n.*659A>T) c.826A>T (p.Thr276Ser) c.1285A>T (p.Thr429Ser) c.1177A>T (p.Thr393Ser) c.1330A>T (p.Thr444Ser) c.1282A>T (p.Thr428Ser) c.1165A>T (p.Thr389Ser) c.1147A>T (p.Thr383Ser) | |
3 | g.69965005_69965007del | CA2666480940 | MITF | c.1272_1274del (p.Thr425del) c.1269_1271del (p.Thr424del) n.1494_1496del c.1245_1247del (p.Thr416del) c.*83_*85del (n.*83_*85del) c.1338_1340del (p.Thr447del) c.1017_1019del (p.Thr340del) c.1317_1319del (p.Thr440del) c.1320_1322del (p.Thr441del) c.999_1001del (p.Thr334del) c.1164_1166del (p.Thr389del) c.*664_*666del (n.*664_*666del) c.831_833del (p.Thr278del) c.1290_1292del (p.Thr431del) c.1182_1184del (p.Thr395del) c.1335_1337del (p.Thr446del) c.1287_1289del (p.Thr430del) c.1170_1172del (p.Thr391del) c.1152_1154del (p.Thr385del) | gnomAD v4 |
3 | g.69965001C>A | CA2490642 | MITF | c.1268C>A (p.Thr423Lys) c.1265C>A (p.Thr422Lys) n.1490C>A c.1241C>A (p.Thr414Lys) c.*79C>A (n.*79C>A) c.1334C>A (p.Thr445Lys) c.1013C>A (p.Thr338Lys) c.1313C>A (p.Thr438Lys) c.1316C>A (p.Thr439Lys) c.995C>A (p.Thr332Lys) c.1160C>A (p.Thr387Lys) c.*660C>A (n.*660C>A) c.827C>A (p.Thr276Lys) c.1286C>A (p.Thr429Lys) c.1178C>A (p.Thr393Lys) c.1331C>A (p.Thr444Lys) c.1283C>A (p.Thr428Lys) c.1166C>A (p.Thr389Lys) c.1148C>A (p.Thr383Lys) | dbSNP ExAC gnomAD v2 |
3 | g.69965001C= | CA1373414139 | MITF | c.1268C= (p.Thr423=) c.1265C= (p.Thr422=) n.1490C= c.1241C= (p.Thr414=) c.*79C= (n.*79C=) c.1334C= (p.Thr445=) c.1013C= (p.Thr338=) c.1313C= (p.Thr438=) c.1316C= (p.Thr439=) c.995C= (p.Thr332=) c.1160C= (p.Thr387=) c.*660C= (n.*660C=) c.827C= (p.Thr276=) c.1286C= (p.Thr429=) c.1178C= (p.Thr393=) c.1331C= (p.Thr444=) c.1283C= (p.Thr428=) c.1166C= (p.Thr389=) c.1148C= (p.Thr383=) | |
3 | g.69965001C>G | CA353559631 | MITF | c.1268C>G (p.Thr423Arg) c.1265C>G (p.Thr422Arg) n.1490C>G c.1241C>G (p.Thr414Arg) c.*79C>G (n.*79C>G) c.1334C>G (p.Thr445Arg) c.1013C>G (p.Thr338Arg) c.1313C>G (p.Thr438Arg) c.1316C>G (p.Thr439Arg) c.995C>G (p.Thr332Arg) c.1160C>G (p.Thr387Arg) c.*660C>G (n.*660C>G) c.827C>G (p.Thr276Arg) c.1286C>G (p.Thr429Arg) c.1178C>G (p.Thr393Arg) c.1331C>G (p.Thr444Arg) c.1283C>G (p.Thr428Arg) c.1166C>G (p.Thr389Arg) c.1148C>G (p.Thr383Arg) | gnomAD v4 |
3 | g.69965001C>T | CA353559632 | MITF | c.1268C>T (p.Thr423Ile) c.1265C>T (p.Thr422Ile) n.1490C>T c.1241C>T (p.Thr414Ile) c.*79C>T (n.*79C>T) c.1334C>T (p.Thr445Ile) c.1013C>T (p.Thr338Ile) c.1313C>T (p.Thr438Ile) c.1316C>T (p.Thr439Ile) c.995C>T (p.Thr332Ile) c.1160C>T (p.Thr387Ile) c.*660C>T (n.*660C>T) c.827C>T (p.Thr276Ile) c.1286C>T (p.Thr429Ile) c.1178C>T (p.Thr393Ile) c.1331C>T (p.Thr444Ile) c.1283C>T (p.Thr428Ile) c.1166C>T (p.Thr389Ile) c.1148C>T (p.Thr383Ile) | |
3 | g.69965002A>C | CA434433702 | MITF | c.1269A>C (p.Thr423=) c.1266A>C (p.Thr422=) n.1491A>C c.1242A>C (p.Thr414=) c.*80A>C (n.*80A>C) c.1335A>C (p.Thr445=) c.1014A>C (p.Thr338=) c.1314A>C (p.Thr438=) c.1317A>C (p.Thr439=) c.996A>C (p.Thr332=) c.1161A>C (p.Thr387=) c.*661A>C (n.*661A>C) c.828A>C (p.Thr276=) c.1287A>C (p.Thr429=) c.1179A>C (p.Thr393=) c.1332A>C (p.Thr444=) c.1284A>C (p.Thr428=) c.1167A>C (p.Thr389=) c.1149A>C (p.Thr383=) | |
3 | g.69965002A>G | CA434433701 | MITF | c.1269A>G (p.Thr423=) c.1266A>G (p.Thr422=) n.1491A>G c.1242A>G (p.Thr414=) c.*80A>G (n.*80A>G) c.1335A>G (p.Thr445=) c.1014A>G (p.Thr338=) c.1314A>G (p.Thr438=) c.1317A>G (p.Thr439=) c.996A>G (p.Thr332=) c.1161A>G (p.Thr387=) c.*661A>G (n.*661A>G) c.828A>G (p.Thr276=) c.1287A>G (p.Thr429=) c.1179A>G (p.Thr393=) c.1332A>G (p.Thr444=) c.1284A>G (p.Thr428=) c.1167A>G (p.Thr389=) c.1149A>G (p.Thr383=) | |
3 | g.69965002A>T | CA434433700 | MITF | c.1269A>T (p.Thr423=) c.1266A>T (p.Thr422=) n.1491A>T c.1242A>T (p.Thr414=) c.*80A>T (n.*80A>T) c.1335A>T (p.Thr445=) c.1014A>T (p.Thr338=) c.1314A>T (p.Thr438=) c.1317A>T (p.Thr439=) c.996A>T (p.Thr332=) c.1161A>T (p.Thr387=) c.*661A>T (n.*661A>T) c.828A>T (p.Thr276=) c.1287A>T (p.Thr429=) c.1179A>T (p.Thr393=) c.1332A>T (p.Thr444=) c.1284A>T (p.Thr428=) c.1167A>T (p.Thr389=) c.1149A>T (p.Thr383=) | |
3 | g.69965003A>C | CA353559633 | MITF | c.1270A>C (p.Thr424Pro) c.1267A>C (p.Thr423Pro) n.1492A>C c.1243A>C (p.Thr415Pro) c.*81A>C (n.*81A>C) c.1336A>C (p.Thr446Pro) c.1015A>C (p.Thr339Pro) c.1315A>C (p.Thr439Pro) c.1318A>C (p.Thr440Pro) c.997A>C (p.Thr333Pro) c.1162A>C (p.Thr388Pro) c.*662A>C (n.*662A>C) c.829A>C (p.Thr277Pro) c.1288A>C (p.Thr430Pro) c.1180A>C (p.Thr394Pro) c.1333A>C (p.Thr445Pro) c.1285A>C (p.Thr429Pro) c.1168A>C (p.Thr390Pro) c.1150A>C (p.Thr384Pro) | |
3 | g.69965003A>G | CA353559634 | MITF | c.1270A>G (p.Thr424Ala) c.1267A>G (p.Thr423Ala) n.1492A>G c.1243A>G (p.Thr415Ala) c.*81A>G (n.*81A>G) c.1336A>G (p.Thr446Ala) c.1015A>G (p.Thr339Ala) c.1315A>G (p.Thr439Ala) c.1318A>G (p.Thr440Ala) c.997A>G (p.Thr333Ala) c.1162A>G (p.Thr388Ala) c.*662A>G (n.*662A>G) c.829A>G (p.Thr277Ala) c.1288A>G (p.Thr430Ala) c.1180A>G (p.Thr394Ala) c.1333A>G (p.Thr445Ala) c.1285A>G (p.Thr429Ala) c.1168A>G (p.Thr390Ala) c.1150A>G (p.Thr384Ala) | ClinVar gnomAD v4 |
3 | g.69965003A>T | CA353559635 | MITF | c.1270A>T (p.Thr424Ser) c.1267A>T (p.Thr423Ser) n.1492A>T c.1243A>T (p.Thr415Ser) c.*81A>T (n.*81A>T) c.1336A>T (p.Thr446Ser) c.1015A>T (p.Thr339Ser) c.1315A>T (p.Thr439Ser) c.1318A>T (p.Thr440Ser) c.997A>T (p.Thr333Ser) c.1162A>T (p.Thr388Ser) c.*662A>T (n.*662A>T) c.829A>T (p.Thr277Ser) c.1288A>T (p.Thr430Ser) c.1180A>T (p.Thr394Ser) c.1333A>T (p.Thr445Ser) c.1285A>T (p.Thr429Ser) c.1168A>T (p.Thr390Ser) c.1150A>T (p.Thr384Ser) | |
3 | g.69965004C>A | CA353559636 | MITF | c.1271C>A (p.Thr424Lys) c.1268C>A (p.Thr423Lys) n.1493C>A c.1244C>A (p.Thr415Lys) c.*82C>A (n.*82C>A) c.1337C>A (p.Thr446Lys) c.1016C>A (p.Thr339Lys) c.1316C>A (p.Thr439Lys) c.1319C>A (p.Thr440Lys) c.998C>A (p.Thr333Lys) c.1163C>A (p.Thr388Lys) c.*663C>A (n.*663C>A) c.830C>A (p.Thr277Lys) c.1289C>A (p.Thr430Lys) c.1181C>A (p.Thr394Lys) c.1334C>A (p.Thr445Lys) c.1286C>A (p.Thr429Lys) c.1169C>A (p.Thr390Lys) c.1151C>A (p.Thr384Lys) | |
3 | g.69965004C= | CA1373414143 | MITF | c.1271C= (p.Thr424=) c.1268C= (p.Thr423=) n.1493C= c.1244C= (p.Thr415=) c.*82C= (n.*82C=) c.1337C= (p.Thr446=) c.1016C= (p.Thr339=) c.1316C= (p.Thr439=) c.1319C= (p.Thr440=) c.998C= (p.Thr333=) c.1163C= (p.Thr388=) c.*663C= (n.*663C=) c.830C= (p.Thr277=) c.1289C= (p.Thr430=) c.1181C= (p.Thr394=) c.1334C= (p.Thr445=) c.1286C= (p.Thr429=) c.1169C= (p.Thr390=) c.1151C= (p.Thr384=) | |
3 | g.69965004C>G | CA353559637 | MITF | c.1271C>G (p.Thr424Arg) c.1268C>G (p.Thr423Arg) n.1493C>G c.1244C>G (p.Thr415Arg) c.*82C>G (n.*82C>G) c.1337C>G (p.Thr446Arg) c.1016C>G (p.Thr339Arg) c.1316C>G (p.Thr439Arg) c.1319C>G (p.Thr440Arg) c.998C>G (p.Thr333Arg) c.1163C>G (p.Thr388Arg) c.*663C>G (n.*663C>G) c.830C>G (p.Thr277Arg) c.1289C>G (p.Thr430Arg) c.1181C>G (p.Thr394Arg) c.1334C>G (p.Thr445Arg) c.1286C>G (p.Thr429Arg) c.1169C>G (p.Thr390Arg) c.1151C>G (p.Thr384Arg) | |
3 | g.69965004C>T | CA353559638 | MITF | c.1271C>T (p.Thr424Ile) c.1268C>T (p.Thr423Ile) n.1493C>T c.1244C>T (p.Thr415Ile) c.*82C>T (n.*82C>T) c.1337C>T (p.Thr446Ile) c.1016C>T (p.Thr339Ile) c.1316C>T (p.Thr439Ile) c.1319C>T (p.Thr440Ile) c.998C>T (p.Thr333Ile) c.1163C>T (p.Thr388Ile) c.*663C>T (n.*663C>T) c.830C>T (p.Thr277Ile) c.1289C>T (p.Thr430Ile) c.1181C>T (p.Thr394Ile) c.1334C>T (p.Thr445Ile) c.1286C>T (p.Thr429Ile) c.1169C>T (p.Thr390Ile) c.1151C>T (p.Thr384Ile) | dbSNP |
3 | g.69965005A>C | CA434433706 | MITF | c.1272A>C (p.Thr424=) c.1269A>C (p.Thr423=) n.1494A>C c.1245A>C (p.Thr415=) c.*83A>C (n.*83A>C) c.1338A>C (p.Thr446=) c.1017A>C (p.Thr339=) c.1317A>C (p.Thr439=) c.1320A>C (p.Thr440=) c.999A>C (p.Thr333=) c.1164A>C (p.Thr388=) c.*664A>C (n.*664A>C) c.831A>C (p.Thr277=) c.1290A>C (p.Thr430=) c.1182A>C (p.Thr394=) c.1335A>C (p.Thr445=) c.1287A>C (p.Thr429=) c.1170A>C (p.Thr390=) c.1152A>C (p.Thr384=) | |
3 | g.69965005A>G | CA434433707 | MITF | c.1272A>G (p.Thr424=) c.1269A>G (p.Thr423=) n.1494A>G c.1245A>G (p.Thr415=) c.*83A>G (n.*83A>G) c.1338A>G (p.Thr446=) c.1017A>G (p.Thr339=) c.1317A>G (p.Thr439=) c.1320A>G (p.Thr440=) c.999A>G (p.Thr333=) c.1164A>G (p.Thr388=) c.*664A>G (n.*664A>G) c.831A>G (p.Thr277=) c.1290A>G (p.Thr430=) c.1182A>G (p.Thr394=) c.1335A>G (p.Thr445=) c.1287A>G (p.Thr429=) c.1170A>G (p.Thr390=) c.1152A>G (p.Thr384=) | |
3 | g.69965005A>T | CA434433708 | MITF | c.1272A>T (p.Thr424=) c.1269A>T (p.Thr423=) n.1494A>T c.1245A>T (p.Thr415=) c.*83A>T (n.*83A>T) c.1338A>T (p.Thr446=) c.1017A>T (p.Thr339=) c.1317A>T (p.Thr439=) c.1320A>T (p.Thr440=) c.999A>T (p.Thr333=) c.1164A>T (p.Thr388=) c.*664A>T (n.*664A>T) c.831A>T (p.Thr277=) c.1290A>T (p.Thr430=) c.1182A>T (p.Thr394=) c.1335A>T (p.Thr445=) c.1287A>T (p.Thr429=) c.1170A>T (p.Thr390=) c.1152A>T (p.Thr384=) | |
3 | g.69965006A>C | CA353559641 | MITF | c.1273A>C (p.Thr425Pro) c.1270A>C (p.Thr424Pro) n.1495A>C c.1246A>C (p.Thr416Pro) c.*84A>C (n.*84A>C) c.1339A>C (p.Thr447Pro) c.1018A>C (p.Thr340Pro) c.1318A>C (p.Thr440Pro) c.1321A>C (p.Thr441Pro) c.1000A>C (p.Thr334Pro) c.1165A>C (p.Thr389Pro) c.*665A>C (n.*665A>C) c.832A>C (p.Thr278Pro) c.1291A>C (p.Thr431Pro) c.1183A>C (p.Thr395Pro) c.1336A>C (p.Thr446Pro) c.1288A>C (p.Thr430Pro) c.1171A>C (p.Thr391Pro) c.1153A>C (p.Thr385Pro) | gnomAD v4 |
3 | g.69965006A>G | CA353559640 | MITF | c.1273A>G (p.Thr425Ala) c.1270A>G (p.Thr424Ala) n.1495A>G c.1246A>G (p.Thr416Ala) c.*84A>G (n.*84A>G) c.1339A>G (p.Thr447Ala) c.1018A>G (p.Thr340Ala) c.1318A>G (p.Thr440Ala) c.1321A>G (p.Thr441Ala) c.1000A>G (p.Thr334Ala) c.1165A>G (p.Thr389Ala) c.*665A>G (n.*665A>G) c.832A>G (p.Thr278Ala) c.1291A>G (p.Thr431Ala) c.1183A>G (p.Thr395Ala) c.1336A>G (p.Thr446Ala) c.1288A>G (p.Thr430Ala) c.1171A>G (p.Thr391Ala) c.1153A>G (p.Thr385Ala) | |
3 | g.69965006A>T | CA353559639 | MITF | c.1273A>T (p.Thr425Ser) c.1270A>T (p.Thr424Ser) n.1495A>T c.1246A>T (p.Thr416Ser) c.*84A>T (n.*84A>T) c.1339A>T (p.Thr447Ser) c.1018A>T (p.Thr340Ser) c.1318A>T (p.Thr440Ser) c.1321A>T (p.Thr441Ser) c.1000A>T (p.Thr334Ser) c.1165A>T (p.Thr389Ser) c.*665A>T (n.*665A>T) c.832A>T (p.Thr278Ser) c.1291A>T (p.Thr431Ser) c.1183A>T (p.Thr395Ser) c.1336A>T (p.Thr446Ser) c.1288A>T (p.Thr430Ser) c.1171A>T (p.Thr391Ser) c.1153A>T (p.Thr385Ser) | |
3 | g.69965007C>A | CA353559642 | MITF | c.1274C>A (p.Thr425Asn) c.1271C>A (p.Thr424Asn) n.1496C>A c.1247C>A (p.Thr416Asn) c.*85C>A (n.*85C>A) c.1340C>A (p.Thr447Asn) c.1019C>A (p.Thr340Asn) c.1319C>A (p.Thr440Asn) c.1322C>A (p.Thr441Asn) c.1001C>A (p.Thr334Asn) c.1166C>A (p.Thr389Asn) c.*666C>A (n.*666C>A) c.833C>A (p.Thr278Asn) c.1292C>A (p.Thr431Asn) c.1184C>A (p.Thr395Asn) c.1337C>A (p.Thr446Asn) c.1289C>A (p.Thr430Asn) c.1172C>A (p.Thr391Asn) c.1154C>A (p.Thr385Asn) | |
3 | g.69965007C>G | CA353559643 | MITF | c.1274C>G (p.Thr425Ser) c.1271C>G (p.Thr424Ser) n.1496C>G c.1247C>G (p.Thr416Ser) c.*85C>G (n.*85C>G) c.1340C>G (p.Thr447Ser) c.1019C>G (p.Thr340Ser) c.1319C>G (p.Thr440Ser) c.1322C>G (p.Thr441Ser) c.1001C>G (p.Thr334Ser) c.1166C>G (p.Thr389Ser) c.*666C>G (n.*666C>G) c.833C>G (p.Thr278Ser) c.1292C>G (p.Thr431Ser) c.1184C>G (p.Thr395Ser) c.1337C>G (p.Thr446Ser) c.1289C>G (p.Thr430Ser) c.1172C>G (p.Thr391Ser) c.1154C>G (p.Thr385Ser) | |
3 | g.69965007C>T | CA353559644 | MITF | c.1274C>T (p.Thr425Ile) c.1271C>T (p.Thr424Ile) n.1496C>T c.1247C>T (p.Thr416Ile) c.*85C>T (n.*85C>T) c.1340C>T (p.Thr447Ile) c.1019C>T (p.Thr340Ile) c.1319C>T (p.Thr440Ile) c.1322C>T (p.Thr441Ile) c.1001C>T (p.Thr334Ile) c.1166C>T (p.Thr389Ile) c.*666C>T (n.*666C>T) c.833C>T (p.Thr278Ile) c.1292C>T (p.Thr431Ile) c.1184C>T (p.Thr395Ile) c.1337C>T (p.Thr446Ile) c.1289C>T (p.Thr430Ile) c.1172C>T (p.Thr391Ile) c.1154C>T (p.Thr385Ile) | dbSNP |
3 | g.69965010_69965011del | CA2586972657 | MITF | c.1277_1278del (p.Leu426ArgfsTer18) c.1274_1275del (p.Leu425ArgfsTer18) n.1499_1500del c.1250_1251del (p.Leu417ArgfsTer18) c.*88_*89del (n.*88_*89del) c.1343_1344del (p.Leu448ArgfsTer18) c.1022_1023del (p.Leu341ArgfsTer18) c.1322_1323del (p.Leu441ArgfsTer18) c.1325_1326del (p.Leu442ArgfsTer18) c.1004_1005del (p.Leu335ArgfsTer18) c.1169_1170del (p.Leu390ArgfsTer18) c.*669_*670del (n.*669_*670del) c.836_837del (p.Leu279ArgfsTer18) c.1295_1296del (p.Leu432ArgfsTer18) c.1187_1188del (p.Leu396ArgfsTer18) c.1340_1341del (p.Leu447ArgfsTer18) c.1292_1293del (p.Leu431ArgfsTer18) c.1175_1176del (p.Leu392ArgfsTer18) c.1157_1158del (p.Leu386ArgfsTer18) | |
3 | g.69965008T>A | CA434433709 | MITF | c.1275T>A (p.Thr425=) c.1272T>A (p.Thr424=) n.1497T>A c.1248T>A (p.Thr416=) c.*86T>A (n.*86T>A) c.1341T>A (p.Thr447=) c.1020T>A (p.Thr340=) c.1320T>A (p.Thr440=) c.1323T>A (p.Thr441=) c.1002T>A (p.Thr334=) c.1167T>A (p.Thr389=) c.*667T>A (n.*667T>A) c.834T>A (p.Thr278=) c.1293T>A (p.Thr431=) c.1185T>A (p.Thr395=) c.1338T>A (p.Thr446=) c.1290T>A (p.Thr430=) c.1173T>A (p.Thr391=) c.1155T>A (p.Thr385=) | |
3 | g.69965008T>C | CA434433710 | MITF | c.1275T>C (p.Thr425=) c.1272T>C (p.Thr424=) n.1497T>C c.1248T>C (p.Thr416=) c.*86T>C (n.*86T>C) c.1341T>C (p.Thr447=) c.1020T>C (p.Thr340=) c.1320T>C (p.Thr440=) c.1323T>C (p.Thr441=) c.1002T>C (p.Thr334=) c.1167T>C (p.Thr389=) c.*667T>C (n.*667T>C) c.834T>C (p.Thr278=) c.1293T>C (p.Thr431=) c.1185T>C (p.Thr395=) c.1338T>C (p.Thr446=) c.1290T>C (p.Thr430=) c.1173T>C (p.Thr391=) c.1155T>C (p.Thr385=) | gnomAD v4 |
3 | g.69965008T>G | CA434433712 | MITF | c.1275T>G (p.Thr425=) c.1272T>G (p.Thr424=) n.1497T>G c.1248T>G (p.Thr416=) c.*86T>G (n.*86T>G) c.1341T>G (p.Thr447=) c.1020T>G (p.Thr340=) c.1320T>G (p.Thr440=) c.1323T>G (p.Thr441=) c.1002T>G (p.Thr334=) c.1167T>G (p.Thr389=) c.*667T>G (n.*667T>G) c.834T>G (p.Thr278=) c.1293T>G (p.Thr431=) c.1185T>G (p.Thr395=) c.1338T>G (p.Thr446=) c.1290T>G (p.Thr430=) c.1173T>G (p.Thr391=) c.1155T>G (p.Thr385=) | |
3 | g.69965009C>A | CA353559645 | MITF | c.1276C>A (p.Leu426Ile) c.1273C>A (p.Leu425Ile) n.1498C>A c.1249C>A (p.Leu417Ile) c.*87C>A (n.*87C>A) c.1342C>A (p.Leu448Ile) c.1021C>A (p.Leu341Ile) c.1321C>A (p.Leu441Ile) c.1324C>A (p.Leu442Ile) c.1003C>A (p.Leu335Ile) c.1168C>A (p.Leu390Ile) c.*668C>A (n.*668C>A) c.835C>A (p.Leu279Ile) c.1294C>A (p.Leu432Ile) c.1186C>A (p.Leu396Ile) c.1339C>A (p.Leu447Ile) c.1291C>A (p.Leu431Ile) c.1174C>A (p.Leu392Ile) c.1156C>A (p.Leu386Ile) | |
3 | g.69965009C= | CA1373414145 | MITF | c.1276C= (p.Leu426=) c.1273C= (p.Leu425=) n.1498C= c.1249C= (p.Leu417=) c.*87C= (n.*87C=) c.1342C= (p.Leu448=) c.1021C= (p.Leu341=) c.1321C= (p.Leu441=) c.1324C= (p.Leu442=) c.1003C= (p.Leu335=) c.1168C= (p.Leu390=) c.*668C= (n.*668C=) c.835C= (p.Leu279=) c.1294C= (p.Leu432=) c.1186C= (p.Leu396=) c.1339C= (p.Leu447=) c.1291C= (p.Leu431=) c.1174C= (p.Leu392=) c.1156C= (p.Leu386=) | |
3 | g.69965009C>G | CA353559646 | MITF | c.1276C>G (p.Leu426Val) c.1273C>G (p.Leu425Val) n.1498C>G c.1249C>G (p.Leu417Val) c.*87C>G (n.*87C>G) c.1342C>G (p.Leu448Val) c.1021C>G (p.Leu341Val) c.1321C>G (p.Leu441Val) c.1324C>G (p.Leu442Val) c.1003C>G (p.Leu335Val) c.1168C>G (p.Leu390Val) c.*668C>G (n.*668C>G) c.835C>G (p.Leu279Val) c.1294C>G (p.Leu432Val) c.1186C>G (p.Leu396Val) c.1339C>G (p.Leu447Val) c.1291C>G (p.Leu431Val) c.1174C>G (p.Leu392Val) c.1156C>G (p.Leu386Val) | dbSNP gnomAD v4 |
3 | g.69965009C>T | CA2490643 | MITF | c.1276C>T (p.Leu426Phe) c.1273C>T (p.Leu425Phe) n.1498C>T c.1249C>T (p.Leu417Phe) c.*87C>T (n.*87C>T) c.1342C>T (p.Leu448Phe) c.1021C>T (p.Leu341Phe) c.1321C>T (p.Leu441Phe) c.1324C>T (p.Leu442Phe) c.1003C>T (p.Leu335Phe) c.1168C>T (p.Leu390Phe) c.*668C>T (n.*668C>T) c.835C>T (p.Leu279Phe) c.1294C>T (p.Leu432Phe) c.1186C>T (p.Leu396Phe) c.1339C>T (p.Leu447Phe) c.1291C>T (p.Leu431Phe) c.1174C>T (p.Leu392Phe) c.1156C>T (p.Leu386Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69965010T>A | CA353559647 | MITF | c.1277T>A (p.Leu426His) c.1274T>A (p.Leu425His) n.1499T>A c.1250T>A (p.Leu417His) c.*88T>A (n.*88T>A) c.1343T>A (p.Leu448His) c.1022T>A (p.Leu341His) c.1322T>A (p.Leu441His) c.1325T>A (p.Leu442His) c.1004T>A (p.Leu335His) c.1169T>A (p.Leu390His) c.*669T>A (n.*669T>A) c.836T>A (p.Leu279His) c.1295T>A (p.Leu432His) c.1187T>A (p.Leu396His) c.1340T>A (p.Leu447His) c.1292T>A (p.Leu431His) c.1175T>A (p.Leu392His) c.1157T>A (p.Leu386His) | |
3 | g.69965010T>C | CA353559648 | MITF | c.1277T>C (p.Leu426Pro) c.1274T>C (p.Leu425Pro) n.1499T>C c.1250T>C (p.Leu417Pro) c.*88T>C (n.*88T>C) c.1343T>C (p.Leu448Pro) c.1022T>C (p.Leu341Pro) c.1322T>C (p.Leu441Pro) c.1325T>C (p.Leu442Pro) c.1004T>C (p.Leu335Pro) c.1169T>C (p.Leu390Pro) c.*669T>C (n.*669T>C) c.836T>C (p.Leu279Pro) c.1295T>C (p.Leu432Pro) c.1187T>C (p.Leu396Pro) c.1340T>C (p.Leu447Pro) c.1292T>C (p.Leu431Pro) c.1175T>C (p.Leu392Pro) c.1157T>C (p.Leu386Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69965010T>G | CA353559649 | MITF | c.1277T>G (p.Leu426Arg) c.1274T>G (p.Leu425Arg) n.1499T>G c.1250T>G (p.Leu417Arg) c.*88T>G (n.*88T>G) c.1343T>G (p.Leu448Arg) c.1022T>G (p.Leu341Arg) c.1322T>G (p.Leu441Arg) c.1325T>G (p.Leu442Arg) c.1004T>G (p.Leu335Arg) c.1169T>G (p.Leu390Arg) c.*669T>G (n.*669T>G) c.836T>G (p.Leu279Arg) c.1295T>G (p.Leu432Arg) c.1187T>G (p.Leu396Arg) c.1340T>G (p.Leu447Arg) c.1292T>G (p.Leu431Arg) c.1175T>G (p.Leu392Arg) c.1157T>G (p.Leu386Arg) | dbSNP gnomAD v4 |
3 | g.69965010T= | CA1373414147 | MITF | c.1277T= (p.Leu426=) c.1274T= (p.Leu425=) n.1499T= c.1250T= (p.Leu417=) c.*88T= (n.*88T=) c.1343T= (p.Leu448=) c.1022T= (p.Leu341=) c.1322T= (p.Leu441=) c.1325T= (p.Leu442=) c.1004T= (p.Leu335=) c.1169T= (p.Leu390=) c.*669T= (n.*669T=) c.836T= (p.Leu279=) c.1295T= (p.Leu432=) c.1187T= (p.Leu396=) c.1340T= (p.Leu447=) c.1292T= (p.Leu431=) c.1175T= (p.Leu392=) c.1157T= (p.Leu386=) | |
3 | g.69965011C>A | CA434433715 | MITF | c.1278C>A (p.Leu426=) c.1275C>A (p.Leu425=) n.1500C>A c.1251C>A (p.Leu417=) c.*89C>A (n.*89C>A) c.1344C>A (p.Leu448=) c.1023C>A (p.Leu341=) c.1323C>A (p.Leu441=) c.1326C>A (p.Leu442=) c.1005C>A (p.Leu335=) c.1170C>A (p.Leu390=) c.*670C>A (n.*670C>A) c.837C>A (p.Leu279=) c.1296C>A (p.Leu432=) c.1188C>A (p.Leu396=) c.1341C>A (p.Leu447=) c.1293C>A (p.Leu431=) c.1176C>A (p.Leu392=) c.1158C>A (p.Leu386=) | gnomAD v4 |
3 | g.69965011C= | CA1373414151 | MITF | c.1278C= (p.Leu426=) c.1275C= (p.Leu425=) n.1500C= c.1251C= (p.Leu417=) c.*89C= (n.*89C=) c.1344C= (p.Leu448=) c.1023C= (p.Leu341=) c.1323C= (p.Leu441=) c.1326C= (p.Leu442=) c.1005C= (p.Leu335=) c.1170C= (p.Leu390=) c.*670C= (n.*670C=) c.837C= (p.Leu279=) c.1296C= (p.Leu432=) c.1188C= (p.Leu396=) c.1341C= (p.Leu447=) c.1293C= (p.Leu431=) c.1176C= (p.Leu392=) c.1158C= (p.Leu386=) | |
3 | g.69965011C>G | CA434433716 | MITF | c.1278C>G (p.Leu426=) c.1275C>G (p.Leu425=) n.1500C>G c.1251C>G (p.Leu417=) c.*89C>G (n.*89C>G) c.1344C>G (p.Leu448=) c.1023C>G (p.Leu341=) c.1323C>G (p.Leu441=) c.1326C>G (p.Leu442=) c.1005C>G (p.Leu335=) c.1170C>G (p.Leu390=) c.*670C>G (n.*670C>G) c.837C>G (p.Leu279=) c.1296C>G (p.Leu432=) c.1188C>G (p.Leu396=) c.1341C>G (p.Leu447=) c.1293C>G (p.Leu431=) c.1176C>G (p.Leu392=) c.1158C>G (p.Leu386=) | |
3 | g.69965011C>T | CA2490644 | MITF | c.1278C>T (p.Leu426=) c.1275C>T (p.Leu425=) n.1500C>T c.1251C>T (p.Leu417=) c.*89C>T (n.*89C>T) c.1344C>T (p.Leu448=) c.1023C>T (p.Leu341=) c.1323C>T (p.Leu441=) c.1326C>T (p.Leu442=) c.1005C>T (p.Leu335=) c.1170C>T (p.Leu390=) c.*670C>T (n.*670C>T) c.837C>T (p.Leu279=) c.1296C>T (p.Leu432=) c.1188C>T (p.Leu396=) c.1341C>T (p.Leu447=) c.1293C>T (p.Leu431=) c.1176C>T (p.Leu392=) c.1158C>T (p.Leu386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.69965012G>A | CA77003523 | MITF | c.1279G>A (p.Asp427Asn) c.1276G>A (p.Asp426Asn) n.1501G>A c.1252G>A (p.Asp418Asn) c.*90G>A (n.*90G>A) c.1345G>A (p.Asp449Asn) c.1024G>A (p.Asp342Asn) c.1324G>A (p.Asp442Asn) c.1327G>A (p.Asp443Asn) c.1006G>A (p.Asp336Asn) c.1171G>A (p.Asp391Asn) c.*671G>A (n.*671G>A) c.838G>A (p.Asp280Asn) c.1297G>A (p.Asp433Asn) c.1189G>A (p.Asp397Asn) c.1342G>A (p.Asp448Asn) c.1294G>A (p.Asp432Asn) c.1177G>A (p.Asp393Asn) c.1159G>A (p.Asp387Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.69965012G>C | CA353559650 | MITF | c.1279G>C (p.Asp427His) c.1276G>C (p.Asp426His) n.1501G>C c.1252G>C (p.Asp418His) c.*90G>C (n.*90G>C) c.1345G>C (p.Asp449His) c.1024G>C (p.Asp342His) c.1324G>C (p.Asp442His) c.1327G>C (p.Asp443His) c.1006G>C (p.Asp336His) c.1171G>C (p.Asp391His) c.*671G>C (n.*671G>C) c.838G>C (p.Asp280His) c.1297G>C (p.Asp433His) c.1189G>C (p.Asp397His) c.1342G>C (p.Asp448His) c.1294G>C (p.Asp432His) c.1177G>C (p.Asp393His) c.1159G>C (p.Asp387His) | |
3 | g.69965012G= | CA1373414158 | MITF | c.1279G= (p.Asp427=) c.1276G= (p.Asp426=) n.1501G= c.1252G= (p.Asp418=) c.*90G= (n.*90G=) c.1345G= (p.Asp449=) c.1024G= (p.Asp342=) c.1324G= (p.Asp442=) c.1327G= (p.Asp443=) c.1006G= (p.Asp336=) c.1171G= (p.Asp391=) c.*671G= (n.*671G=) c.838G= (p.Asp280=) c.1297G= (p.Asp433=) c.1189G= (p.Asp397=) c.1342G= (p.Asp448=) c.1294G= (p.Asp432=) c.1177G= (p.Asp393=) c.1159G= (p.Asp387=) | |
3 | g.69965012G>T | CA353559651 | MITF | c.1279G>T (p.Asp427Tyr) c.1276G>T (p.Asp426Tyr) n.1501G>T c.1252G>T (p.Asp418Tyr) c.*90G>T (n.*90G>T) c.1345G>T (p.Asp449Tyr) c.1024G>T (p.Asp342Tyr) c.1324G>T (p.Asp442Tyr) c.1327G>T (p.Asp443Tyr) c.1006G>T (p.Asp336Tyr) c.1171G>T (p.Asp391Tyr) c.*671G>T (n.*671G>T) c.838G>T (p.Asp280Tyr) c.1297G>T (p.Asp433Tyr) c.1189G>T (p.Asp397Tyr) c.1342G>T (p.Asp448Tyr) c.1294G>T (p.Asp432Tyr) c.1177G>T (p.Asp393Tyr) c.1159G>T (p.Asp387Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69965012delinsAT | CA2586972658 | MITF | c.1279delinsAT (p.Asp427IlefsTer18) c.1276delinsAT (p.Asp426IlefsTer18) n.1501delinsAT c.1252delinsAT (p.Asp418IlefsTer18) c.*90delinsAT (n.*90delinsAT) c.1345delinsAT (p.Asp449IlefsTer18) c.1024delinsAT (p.Asp342IlefsTer18) c.1324delinsAT (p.Asp442IlefsTer18) c.1327delinsAT (p.Asp443IlefsTer18) c.1006delinsAT (p.Asp336IlefsTer18) c.1171delinsAT (p.Asp391IlefsTer18) c.*671delinsAT (n.*671delinsAT) c.838delinsAT (p.Asp280IlefsTer18) c.1297delinsAT (p.Asp433IlefsTer18) c.1189delinsAT (p.Asp397IlefsTer18) c.1342delinsAT (p.Asp448IlefsTer18) c.1294delinsAT (p.Asp432IlefsTer18) c.1177delinsAT (p.Asp393IlefsTer18) c.1159delinsAT (p.Asp387IlefsTer18) | |
3 | g.69965013A>C | CA353559654 | MITF | c.1280A>C (p.Asp427Ala) c.1277A>C (p.Asp426Ala) n.1502A>C c.1253A>C (p.Asp418Ala) c.*91A>C (n.*91A>C) c.1346A>C (p.Asp449Ala) c.1025A>C (p.Asp342Ala) c.1325A>C (p.Asp442Ala) c.1328A>C (p.Asp443Ala) c.1007A>C (p.Asp336Ala) c.1172A>C (p.Asp391Ala) c.*672A>C (n.*672A>C) c.839A>C (p.Asp280Ala) c.1298A>C (p.Asp433Ala) c.1190A>C (p.Asp397Ala) c.1343A>C (p.Asp448Ala) c.1295A>C (p.Asp432Ala) c.1178A>C (p.Asp393Ala) c.1160A>C (p.Asp387Ala) | |
3 | g.69965013A>G | CA353559653 | MITF | c.1280A>G (p.Asp427Gly) c.1277A>G (p.Asp426Gly) n.1502A>G c.1253A>G (p.Asp418Gly) c.*91A>G (n.*91A>G) c.1346A>G (p.Asp449Gly) c.1025A>G (p.Asp342Gly) c.1325A>G (p.Asp442Gly) c.1328A>G (p.Asp443Gly) c.1007A>G (p.Asp336Gly) c.1172A>G (p.Asp391Gly) c.*672A>G (n.*672A>G) c.839A>G (p.Asp280Gly) c.1298A>G (p.Asp433Gly) c.1190A>G (p.Asp397Gly) c.1343A>G (p.Asp448Gly) c.1295A>G (p.Asp432Gly) c.1178A>G (p.Asp393Gly) c.1160A>G (p.Asp387Gly) | |
3 | g.69965013A>T | CA353559652 | MITF | c.1280A>T (p.Asp427Val) c.1277A>T (p.Asp426Val) n.1502A>T c.1253A>T (p.Asp418Val) c.*91A>T (n.*91A>T) c.1346A>T (p.Asp449Val) c.1025A>T (p.Asp342Val) c.1325A>T (p.Asp442Val) c.1328A>T (p.Asp443Val) c.1007A>T (p.Asp336Val) c.1172A>T (p.Asp391Val) c.*672A>T (n.*672A>T) c.839A>T (p.Asp280Val) c.1298A>T (p.Asp433Val) c.1190A>T (p.Asp397Val) c.1343A>T (p.Asp448Val) c.1295A>T (p.Asp432Val) c.1178A>T (p.Asp393Val) c.1160A>T (p.Asp387Val) | |
3 | g.69965014T>A | CA353559655 | MITF | c.1281T>A (p.Asp427Glu) c.1278T>A (p.Asp426Glu) n.1503T>A c.1254T>A (p.Asp418Glu) c.*92T>A (n.*92T>A) c.1347T>A (p.Asp449Glu) c.1026T>A (p.Asp342Glu) c.1326T>A (p.Asp442Glu) c.1329T>A (p.Asp443Glu) c.1008T>A (p.Asp336Glu) c.1173T>A (p.Asp391Glu) c.*673T>A (n.*673T>A) c.840T>A (p.Asp280Glu) c.1299T>A (p.Asp433Glu) c.1191T>A (p.Asp397Glu) c.1344T>A (p.Asp448Glu) c.1296T>A (p.Asp432Glu) c.1179T>A (p.Asp393Glu) c.1161T>A (p.Asp387Glu) | |
3 | g.69965014T>C | CA434433719 | MITF | c.1281T>C (p.Asp427=) c.1278T>C (p.Asp426=) n.1503T>C c.1254T>C (p.Asp418=) c.*92T>C (n.*92T>C) c.1347T>C (p.Asp449=) c.1026T>C (p.Asp342=) c.1326T>C (p.Asp442=) c.1329T>C (p.Asp443=) c.1008T>C (p.Asp336=) c.1173T>C (p.Asp391=) c.*673T>C (n.*673T>C) c.840T>C (p.Asp280=) c.1299T>C (p.Asp433=) c.1191T>C (p.Asp397=) c.1344T>C (p.Asp448=) c.1296T>C (p.Asp432=) c.1179T>C (p.Asp393=) c.1161T>C (p.Asp387=) | |
3 | g.69965014T>G | CA353559656 | MITF | c.1281T>G (p.Asp427Glu) c.1278T>G (p.Asp426Glu) n.1503T>G c.1254T>G (p.Asp418Glu) c.*92T>G (n.*92T>G) c.1347T>G (p.Asp449Glu) c.1026T>G (p.Asp342Glu) c.1326T>G (p.Asp442Glu) c.1329T>G (p.Asp443Glu) c.1008T>G (p.Asp336Glu) c.1173T>G (p.Asp391Glu) c.*673T>G (n.*673T>G) c.840T>G (p.Asp280Glu) c.1299T>G (p.Asp433Glu) c.1191T>G (p.Asp397Glu) c.1344T>G (p.Asp448Glu) c.1296T>G (p.Asp432Glu) c.1179T>G (p.Asp393Glu) c.1161T>G (p.Asp387Glu) |