UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69964875del | CA10581502 | MITF | c.1142del (p.Gly381AspfsTer16) c.1139del (p.Gly380AspfsTer16) n.1364del c.1115del (p.Gly372AspfsTer16) c.1114-39del (n.1114-39del) c.1208del (p.Gly403AspfsTer16) c.887del (p.Gly296AspfsTer16) c.1187del (p.Gly396AspfsTer16) c.1190del (p.Gly397AspfsTer16) c.869del (p.Gly290AspfsTer16) c.1034del (p.Gly345AspfsTer16) c.*534del (n.*534del) c.701del (p.Gly234AspfsTer16) c.1160del (p.Gly387AspfsTer16) c.1052del (p.Gly351AspfsTer16) c.1205del (p.Gly402AspfsTer16) c.1157del (p.Gly386AspfsTer16) c.1040del (p.Gly347AspfsTer16) c.1022del (p.Gly341AspfsTer16) | ClinVar dbSNP |
| 3 | g.69964875G>A | CA353559366 | MITF | c.1142G>A (p.Gly381Glu) c.1139G>A (p.Gly380Glu) n.1364G>A c.1115G>A (p.Gly372Glu) c.1114-39G>A (n.1114-39G>A) c.1208G>A (p.Gly403Glu) c.887G>A (p.Gly296Glu) c.1187G>A (p.Gly396Glu) c.1190G>A (p.Gly397Glu) c.869G>A (p.Gly290Glu) c.1034G>A (p.Gly345Glu) c.*534G>A (n.*534G>A) c.701G>A (p.Gly234Glu) c.1160G>A (p.Gly387Glu) c.1052G>A (p.Gly351Glu) c.1205G>A (p.Gly402Glu) c.1157G>A (p.Gly386Glu) c.1040G>A (p.Gly347Glu) c.1022G>A (p.Gly341Glu) | gnomAD v4 |
| 3 | g.69964875G>C | CA353559367 | MITF | c.1142G>C (p.Gly381Ala) c.1139G>C (p.Gly380Ala) n.1364G>C c.1115G>C (p.Gly372Ala) c.1114-39G>C (n.1114-39G>C) c.1208G>C (p.Gly403Ala) c.887G>C (p.Gly296Ala) c.1187G>C (p.Gly396Ala) c.1190G>C (p.Gly397Ala) c.869G>C (p.Gly290Ala) c.1034G>C (p.Gly345Ala) c.*534G>C (n.*534G>C) c.701G>C (p.Gly234Ala) c.1160G>C (p.Gly387Ala) c.1052G>C (p.Gly351Ala) c.1205G>C (p.Gly402Ala) c.1157G>C (p.Gly386Ala) c.1040G>C (p.Gly347Ala) c.1022G>C (p.Gly341Ala) | |
| 3 | g.69964875G>T | CA353559365 | MITF | c.1142G>T (p.Gly381Val) c.1139G>T (p.Gly380Val) n.1364G>T c.1115G>T (p.Gly372Val) c.1114-39G>T (n.1114-39G>T) c.1208G>T (p.Gly403Val) c.887G>T (p.Gly296Val) c.1187G>T (p.Gly396Val) c.1190G>T (p.Gly397Val) c.869G>T (p.Gly290Val) c.1034G>T (p.Gly345Val) c.*534G>T (n.*534G>T) c.701G>T (p.Gly234Val) c.1160G>T (p.Gly387Val) c.1052G>T (p.Gly351Val) c.1205G>T (p.Gly402Val) c.1157G>T (p.Gly386Val) c.1040G>T (p.Gly347Val) c.1022G>T (p.Gly341Val) | |
| 3 | g.69964876A>C | CA434433354 | MITF | c.1143A>C (p.Gly381=) c.1140A>C (p.Gly380=) n.1365A>C c.1116A>C (p.Gly372=) c.1114-38A>C (n.1114-38A>C) c.1209A>C (p.Gly403=) c.888A>C (p.Gly296=) c.1188A>C (p.Gly396=) c.1191A>C (p.Gly397=) c.870A>C (p.Gly290=) c.1035A>C (p.Gly345=) c.*535A>C (n.*535A>C) c.702A>C (p.Gly234=) c.1161A>C (p.Gly387=) c.1053A>C (p.Gly351=) c.1206A>C (p.Gly402=) c.1158A>C (p.Gly386=) c.1041A>C (p.Gly347=) c.1023A>C (p.Gly341=) | |
| 3 | g.69964876A>G | CA434433355 | MITF | c.1143A>G (p.Gly381=) c.1140A>G (p.Gly380=) n.1365A>G c.1116A>G (p.Gly372=) c.1114-38A>G (n.1114-38A>G) c.1209A>G (p.Gly403=) c.888A>G (p.Gly296=) c.1188A>G (p.Gly396=) c.1191A>G (p.Gly397=) c.870A>G (p.Gly290=) c.1035A>G (p.Gly345=) c.*535A>G (n.*535A>G) c.702A>G (p.Gly234=) c.1161A>G (p.Gly387=) c.1053A>G (p.Gly351=) c.1206A>G (p.Gly402=) c.1158A>G (p.Gly386=) c.1041A>G (p.Gly347=) c.1023A>G (p.Gly341=) | gnomAD v4 |
| 3 | g.69964876A>T | CA434433357 | MITF | c.1143A>T (p.Gly381=) c.1140A>T (p.Gly380=) n.1365A>T c.1116A>T (p.Gly372=) c.1114-38A>T (n.1114-38A>T) c.1209A>T (p.Gly403=) c.888A>T (p.Gly296=) c.1188A>T (p.Gly396=) c.1191A>T (p.Gly397=) c.870A>T (p.Gly290=) c.1035A>T (p.Gly345=) c.*535A>T (n.*535A>T) c.702A>T (p.Gly234=) c.1161A>T (p.Gly387=) c.1053A>T (p.Gly351=) c.1206A>T (p.Gly402=) c.1158A>T (p.Gly386=) c.1041A>T (p.Gly347=) c.1023A>T (p.Gly341=) | |
| 3 | g.69964877C>A | CA353559369 | MITF | c.1144C>A (p.Leu382Ile) c.1141C>A (p.Leu381Ile) n.1366C>A c.1117C>A (p.Leu373Ile) c.1114-37C>A (n.1114-37C>A) c.1210C>A (p.Leu404Ile) c.889C>A (p.Leu297Ile) c.1189C>A (p.Leu397Ile) c.1192C>A (p.Leu398Ile) c.871C>A (p.Leu291Ile) c.1036C>A (p.Leu346Ile) c.*536C>A (n.*536C>A) c.703C>A (p.Leu235Ile) c.1162C>A (p.Leu388Ile) c.1054C>A (p.Leu352Ile) c.1207C>A (p.Leu403Ile) c.1159C>A (p.Leu387Ile) c.1042C>A (p.Leu348Ile) c.1024C>A (p.Leu342Ile) | gnomAD v4 |
| 3 | g.69964877C= | CA1373413897 | MITF | c.1144C= (p.Leu382=) c.1141C= (p.Leu381=) n.1366C= c.1117C= (p.Leu373=) c.1114-37C= (n.1114-37C=) c.1210C= (p.Leu404=) c.889C= (p.Leu297=) c.1189C= (p.Leu397=) c.1192C= (p.Leu398=) c.871C= (p.Leu291=) c.1036C= (p.Leu346=) c.*536C= (n.*536C=) c.703C= (p.Leu235=) c.1162C= (p.Leu388=) c.1054C= (p.Leu352=) c.1207C= (p.Leu403=) c.1159C= (p.Leu387=) c.1042C= (p.Leu348=) c.1024C= (p.Leu342=) | |
| 3 | g.69964877C>G | CA353559368 | MITF | c.1144C>G (p.Leu382Val) c.1141C>G (p.Leu381Val) n.1366C>G c.1117C>G (p.Leu373Val) c.1114-37C>G (n.1114-37C>G) c.1210C>G (p.Leu404Val) c.889C>G (p.Leu297Val) c.1189C>G (p.Leu397Val) c.1192C>G (p.Leu398Val) c.871C>G (p.Leu291Val) c.1036C>G (p.Leu346Val) c.*536C>G (n.*536C>G) c.703C>G (p.Leu235Val) c.1162C>G (p.Leu388Val) c.1054C>G (p.Leu352Val) c.1207C>G (p.Leu403Val) c.1159C>G (p.Leu387Val) c.1042C>G (p.Leu348Val) c.1024C>G (p.Leu342Val) | |
| 3 | g.69964877C>T | CA2490624 | MITF | c.1144C>T (p.Leu382Phe) c.1141C>T (p.Leu381Phe) n.1366C>T c.1117C>T (p.Leu373Phe) c.1114-37C>T (n.1114-37C>T) c.1210C>T (p.Leu404Phe) c.889C>T (p.Leu297Phe) c.1189C>T (p.Leu397Phe) c.1192C>T (p.Leu398Phe) c.871C>T (p.Leu291Phe) c.1036C>T (p.Leu346Phe) c.*536C>T (n.*536C>T) c.703C>T (p.Leu235Phe) c.1162C>T (p.Leu388Phe) c.1054C>T (p.Leu352Phe) c.1207C>T (p.Leu403Phe) c.1159C>T (p.Leu387Phe) c.1042C>T (p.Leu348Phe) c.1024C>T (p.Leu342Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69964878T>A | CA353559370 | MITF | c.1145T>A (p.Leu382His) c.1142T>A (p.Leu381His) n.1367T>A c.1118T>A (p.Leu373His) c.1114-36T>A (n.1114-36T>A) c.1211T>A (p.Leu404His) c.890T>A (p.Leu297His) c.1190T>A (p.Leu397His) c.1193T>A (p.Leu398His) c.872T>A (p.Leu291His) c.1037T>A (p.Leu346His) c.*537T>A (n.*537T>A) c.704T>A (p.Leu235His) c.1163T>A (p.Leu388His) c.1055T>A (p.Leu352His) c.1208T>A (p.Leu403His) c.1160T>A (p.Leu387His) c.1043T>A (p.Leu348His) c.1025T>A (p.Leu342His) | |
| 3 | g.69964878T>C | CA353559371 | MITF | c.1145T>C (p.Leu382Pro) c.1142T>C (p.Leu381Pro) n.1367T>C c.1118T>C (p.Leu373Pro) c.1114-36T>C (n.1114-36T>C) c.1211T>C (p.Leu404Pro) c.890T>C (p.Leu297Pro) c.1190T>C (p.Leu397Pro) c.1193T>C (p.Leu398Pro) c.872T>C (p.Leu291Pro) c.1037T>C (p.Leu346Pro) c.*537T>C (n.*537T>C) c.704T>C (p.Leu235Pro) c.1163T>C (p.Leu388Pro) c.1055T>C (p.Leu352Pro) c.1208T>C (p.Leu403Pro) c.1160T>C (p.Leu387Pro) c.1043T>C (p.Leu348Pro) c.1025T>C (p.Leu342Pro) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69964878T>G | CA353559372 | MITF | c.1145T>G (p.Leu382Arg) c.1142T>G (p.Leu381Arg) n.1367T>G c.1118T>G (p.Leu373Arg) c.1114-36T>G (n.1114-36T>G) c.1211T>G (p.Leu404Arg) c.890T>G (p.Leu297Arg) c.1190T>G (p.Leu397Arg) c.1193T>G (p.Leu398Arg) c.872T>G (p.Leu291Arg) c.1037T>G (p.Leu346Arg) c.*537T>G (n.*537T>G) c.704T>G (p.Leu235Arg) c.1163T>G (p.Leu388Arg) c.1055T>G (p.Leu352Arg) c.1208T>G (p.Leu403Arg) c.1160T>G (p.Leu387Arg) c.1043T>G (p.Leu348Arg) c.1025T>G (p.Leu342Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69964878T= | CA1373413901 | MITF | c.1145T= (p.Leu382=) c.1142T= (p.Leu381=) n.1367T= c.1118T= (p.Leu373=) c.1114-36T= (n.1114-36T=) c.1211T= (p.Leu404=) c.890T= (p.Leu297=) c.1190T= (p.Leu397=) c.1193T= (p.Leu398=) c.872T= (p.Leu291=) c.1037T= (p.Leu346=) c.*537T= (n.*537T=) c.704T= (p.Leu235=) c.1163T= (p.Leu388=) c.1055T= (p.Leu352=) c.1208T= (p.Leu403=) c.1160T= (p.Leu387=) c.1043T= (p.Leu348=) c.1025T= (p.Leu342=) | |
| 3 | g.69964879T>A | CA434433370 | MITF | c.1146T>A (p.Leu382=) c.1143T>A (p.Leu381=) n.1368T>A c.1119T>A (p.Leu373=) c.1114-35T>A (n.1114-35T>A) c.1212T>A (p.Leu404=) c.891T>A (p.Leu297=) c.1191T>A (p.Leu397=) c.1194T>A (p.Leu398=) c.873T>A (p.Leu291=) c.1038T>A (p.Leu346=) c.*538T>A (n.*538T>A) c.705T>A (p.Leu235=) c.1164T>A (p.Leu388=) c.1056T>A (p.Leu352=) c.1209T>A (p.Leu403=) c.1161T>A (p.Leu387=) c.1044T>A (p.Leu348=) c.1026T>A (p.Leu342=) | |
| 3 | g.69964879T>C | CA434433371 | MITF | c.1146T>C (p.Leu382=) c.1143T>C (p.Leu381=) n.1368T>C c.1119T>C (p.Leu373=) c.1114-35T>C (n.1114-35T>C) c.1212T>C (p.Leu404=) c.891T>C (p.Leu297=) c.1191T>C (p.Leu397=) c.1194T>C (p.Leu398=) c.873T>C (p.Leu291=) c.1038T>C (p.Leu346=) c.*538T>C (n.*538T>C) c.705T>C (p.Leu235=) c.1164T>C (p.Leu388=) c.1056T>C (p.Leu352=) c.1209T>C (p.Leu403=) c.1161T>C (p.Leu387=) c.1044T>C (p.Leu348=) c.1026T>C (p.Leu342=) | |
| 3 | g.69964879T>G | CA434433372 | MITF | c.1146T>G (p.Leu382=) c.1143T>G (p.Leu381=) n.1368T>G c.1119T>G (p.Leu373=) c.1114-35T>G (n.1114-35T>G) c.1212T>G (p.Leu404=) c.891T>G (p.Leu297=) c.1191T>G (p.Leu397=) c.1194T>G (p.Leu398=) c.873T>G (p.Leu291=) c.1038T>G (p.Leu346=) c.*538T>G (n.*538T>G) c.705T>G (p.Leu235=) c.1164T>G (p.Leu388=) c.1056T>G (p.Leu352=) c.1209T>G (p.Leu403=) c.1161T>G (p.Leu387=) c.1044T>G (p.Leu348=) c.1026T>G (p.Leu342=) | |
| 3 | g.69964880T>A | CA353559374 | MITF | c.1147T>A (p.Ser383Thr) c.1144T>A (p.Ser382Thr) n.1369T>A c.1120T>A (p.Ser374Thr) c.1114-34T>A (n.1114-34T>A) c.1213T>A (p.Ser405Thr) c.892T>A (p.Ser298Thr) c.1192T>A (p.Ser398Thr) c.1195T>A (p.Ser399Thr) c.874T>A (p.Ser292Thr) c.1039T>A (p.Ser347Thr) c.*539T>A (n.*539T>A) c.706T>A (p.Ser236Thr) c.1165T>A (p.Ser389Thr) c.1057T>A (p.Ser353Thr) c.1210T>A (p.Ser404Thr) c.1162T>A (p.Ser388Thr) c.1045T>A (p.Ser349Thr) c.1027T>A (p.Ser343Thr) | |
| 3 | g.69964880T>C | CA123838 | MITF | c.1147T>C (p.Ser383Pro) c.1144T>C (p.Ser382Pro) n.1369T>C c.1120T>C (p.Ser374Pro) c.1114-34T>C (n.1114-34T>C) c.1213T>C (p.Ser405Pro) c.892T>C (p.Ser298Pro) c.1192T>C (p.Ser398Pro) c.1195T>C (p.Ser399Pro) c.874T>C (p.Ser292Pro) c.1039T>C (p.Ser347Pro) c.*539T>C (n.*539T>C) c.706T>C (p.Ser236Pro) c.1165T>C (p.Ser389Pro) c.1057T>C (p.Ser353Pro) c.1210T>C (p.Ser404Pro) c.1162T>C (p.Ser388Pro) c.1045T>C (p.Ser349Pro) c.1027T>C (p.Ser343Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964880T>G | CA353559373 | MITF | c.1147T>G (p.Ser383Ala) c.1144T>G (p.Ser382Ala) n.1369T>G c.1120T>G (p.Ser374Ala) c.1114-34T>G (n.1114-34T>G) c.1213T>G (p.Ser405Ala) c.892T>G (p.Ser298Ala) c.1192T>G (p.Ser398Ala) c.1195T>G (p.Ser399Ala) c.874T>G (p.Ser292Ala) c.1039T>G (p.Ser347Ala) c.*539T>G (n.*539T>G) c.706T>G (p.Ser236Ala) c.1165T>G (p.Ser389Ala) c.1057T>G (p.Ser353Ala) c.1210T>G (p.Ser404Ala) c.1162T>G (p.Ser388Ala) c.1045T>G (p.Ser349Ala) c.1027T>G (p.Ser343Ala) | |
| 3 | g.69964880T= | CA1373413906 | MITF | c.1147T= (p.Ser383=) c.1144T= (p.Ser382=) n.1369T= c.1120T= (p.Ser374=) c.1114-34T= (n.1114-34T=) c.1213T= (p.Ser405=) c.892T= (p.Ser298=) c.1192T= (p.Ser398=) c.1195T= (p.Ser399=) c.874T= (p.Ser292=) c.1039T= (p.Ser347=) c.*539T= (n.*539T=) c.706T= (p.Ser236=) c.1165T= (p.Ser389=) c.1057T= (p.Ser353=) c.1210T= (p.Ser404=) c.1162T= (p.Ser388=) c.1045T= (p.Ser349=) c.1027T= (p.Ser343=) | |
| 3 | g.69964881C>A | CA353559375 | MITF | c.1148C>A (p.Ser383Tyr) c.1145C>A (p.Ser382Tyr) n.1370C>A c.1121C>A (p.Ser374Tyr) c.1114-33C>A (n.1114-33C>A) c.1214C>A (p.Ser405Tyr) c.893C>A (p.Ser298Tyr) c.1193C>A (p.Ser398Tyr) c.1196C>A (p.Ser399Tyr) c.875C>A (p.Ser292Tyr) c.1040C>A (p.Ser347Tyr) c.*540C>A (n.*540C>A) c.707C>A (p.Ser236Tyr) c.1166C>A (p.Ser389Tyr) c.1058C>A (p.Ser353Tyr) c.1211C>A (p.Ser404Tyr) c.1163C>A (p.Ser388Tyr) c.1046C>A (p.Ser349Tyr) c.1028C>A (p.Ser343Tyr) | |
| 3 | g.69964881C>G | CA353559376 | MITF | c.1148C>G (p.Ser383Cys) c.1145C>G (p.Ser382Cys) n.1370C>G c.1121C>G (p.Ser374Cys) c.1114-33C>G (n.1114-33C>G) c.1214C>G (p.Ser405Cys) c.893C>G (p.Ser298Cys) c.1193C>G (p.Ser398Cys) c.1196C>G (p.Ser399Cys) c.875C>G (p.Ser292Cys) c.1040C>G (p.Ser347Cys) c.*540C>G (n.*540C>G) c.707C>G (p.Ser236Cys) c.1166C>G (p.Ser389Cys) c.1058C>G (p.Ser353Cys) c.1211C>G (p.Ser404Cys) c.1163C>G (p.Ser388Cys) c.1046C>G (p.Ser349Cys) c.1028C>G (p.Ser343Cys) | |
| 3 | g.69964881C>T | CA353559377 | MITF | c.1148C>T (p.Ser383Phe) c.1145C>T (p.Ser382Phe) n.1370C>T c.1121C>T (p.Ser374Phe) c.1114-33C>T (n.1114-33C>T) c.1214C>T (p.Ser405Phe) c.893C>T (p.Ser298Phe) c.1193C>T (p.Ser398Phe) c.1196C>T (p.Ser399Phe) c.875C>T (p.Ser292Phe) c.1040C>T (p.Ser347Phe) c.*540C>T (n.*540C>T) c.707C>T (p.Ser236Phe) c.1166C>T (p.Ser389Phe) c.1058C>T (p.Ser353Phe) c.1211C>T (p.Ser404Phe) c.1163C>T (p.Ser388Phe) c.1046C>T (p.Ser349Phe) c.1028C>T (p.Ser343Phe) | dbSNP |
| 3 | g.69964882C>A | CA434433377 | MITF | c.1149C>A (p.Ser383=) c.1146C>A (p.Ser382=) n.1371C>A c.1122C>A (p.Ser374=) c.1114-32C>A (n.1114-32C>A) c.1215C>A (p.Ser405=) c.894C>A (p.Ser298=) c.1194C>A (p.Ser398=) c.1197C>A (p.Ser399=) c.876C>A (p.Ser292=) c.1041C>A (p.Ser347=) c.*541C>A (n.*541C>A) c.708C>A (p.Ser236=) c.1167C>A (p.Ser389=) c.1059C>A (p.Ser353=) c.1212C>A (p.Ser404=) c.1164C>A (p.Ser388=) c.1047C>A (p.Ser349=) c.1029C>A (p.Ser343=) | |
| 3 | g.69964882C>G | CA434433374 | MITF | c.1149C>G (p.Ser383=) c.1146C>G (p.Ser382=) n.1371C>G c.1122C>G (p.Ser374=) c.1114-32C>G (n.1114-32C>G) c.1215C>G (p.Ser405=) c.894C>G (p.Ser298=) c.1194C>G (p.Ser398=) c.1197C>G (p.Ser399=) c.876C>G (p.Ser292=) c.1041C>G (p.Ser347=) c.*541C>G (n.*541C>G) c.708C>G (p.Ser236=) c.1167C>G (p.Ser389=) c.1059C>G (p.Ser353=) c.1212C>G (p.Ser404=) c.1164C>G (p.Ser388=) c.1047C>G (p.Ser349=) c.1029C>G (p.Ser343=) | |
| 3 | g.69964882C>T | CA434433375 | MITF | c.1149C>T (p.Ser383=) c.1146C>T (p.Ser382=) n.1371C>T c.1122C>T (p.Ser374=) c.1114-32C>T (n.1114-32C>T) c.1215C>T (p.Ser405=) c.894C>T (p.Ser298=) c.1194C>T (p.Ser398=) c.1197C>T (p.Ser399=) c.876C>T (p.Ser292=) c.1041C>T (p.Ser347=) c.*541C>T (n.*541C>T) c.708C>T (p.Ser236=) c.1167C>T (p.Ser389=) c.1059C>T (p.Ser353=) c.1212C>T (p.Ser404=) c.1164C>T (p.Ser388=) c.1047C>T (p.Ser349=) c.1029C>T (p.Ser343=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69964883C>A | CA353559378 | MITF | c.1150C>A (p.Leu384Ile) c.1147C>A (p.Leu383Ile) n.1372C>A c.1123C>A (p.Leu375Ile) c.1114-31C>A (n.1114-31C>A) c.1216C>A (p.Leu406Ile) c.895C>A (p.Leu299Ile) c.1195C>A (p.Leu399Ile) c.1198C>A (p.Leu400Ile) c.877C>A (p.Leu293Ile) c.1042C>A (p.Leu348Ile) c.*542C>A (n.*542C>A) c.709C>A (p.Leu237Ile) c.1168C>A (p.Leu390Ile) c.1060C>A (p.Leu354Ile) c.1213C>A (p.Leu405Ile) c.1165C>A (p.Leu389Ile) c.1048C>A (p.Leu350Ile) c.1030C>A (p.Leu344Ile) | |
| 3 | g.69964883C= | CA1373413911 | MITF | c.1150C= (p.Leu384=) c.1147C= (p.Leu383=) n.1372C= c.1123C= (p.Leu375=) c.1114-31C= (n.1114-31C=) c.1216C= (p.Leu406=) c.895C= (p.Leu299=) c.1195C= (p.Leu399=) c.1198C= (p.Leu400=) c.877C= (p.Leu293=) c.1042C= (p.Leu348=) c.*542C= (n.*542C=) c.709C= (p.Leu237=) c.1168C= (p.Leu390=) c.1060C= (p.Leu354=) c.1213C= (p.Leu405=) c.1165C= (p.Leu389=) c.1048C= (p.Leu350=) c.1030C= (p.Leu344=) | |
| 3 | g.69964883C>G | CA353559379 | MITF | c.1150C>G (p.Leu384Val) c.1147C>G (p.Leu383Val) n.1372C>G c.1123C>G (p.Leu375Val) c.1114-31C>G (n.1114-31C>G) c.1216C>G (p.Leu406Val) c.895C>G (p.Leu299Val) c.1195C>G (p.Leu399Val) c.1198C>G (p.Leu400Val) c.877C>G (p.Leu293Val) c.1042C>G (p.Leu348Val) c.*542C>G (n.*542C>G) c.709C>G (p.Leu237Val) c.1168C>G (p.Leu390Val) c.1060C>G (p.Leu354Val) c.1213C>G (p.Leu405Val) c.1165C>G (p.Leu389Val) c.1048C>G (p.Leu350Val) c.1030C>G (p.Leu344Val) | |
| 3 | g.69964883C>T | CA2490625 | MITF | c.1150C>T (p.Leu384Phe) c.1147C>T (p.Leu383Phe) n.1372C>T c.1123C>T (p.Leu375Phe) c.1114-31C>T (n.1114-31C>T) c.1216C>T (p.Leu406Phe) c.895C>T (p.Leu299Phe) c.1195C>T (p.Leu399Phe) c.1198C>T (p.Leu400Phe) c.877C>T (p.Leu293Phe) c.1042C>T (p.Leu348Phe) c.*542C>T (n.*542C>T) c.709C>T (p.Leu237Phe) c.1168C>T (p.Leu390Phe) c.1060C>T (p.Leu354Phe) c.1213C>T (p.Leu405Phe) c.1165C>T (p.Leu389Phe) c.1048C>T (p.Leu350Phe) c.1030C>T (p.Leu344Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964884T>A | CA353559380 | MITF | c.1151T>A (p.Leu384His) c.1148T>A (p.Leu383His) n.1373T>A c.1124T>A (p.Leu375His) c.1114-30T>A (n.1114-30T>A) c.1217T>A (p.Leu406His) c.896T>A (p.Leu299His) c.1196T>A (p.Leu399His) c.1199T>A (p.Leu400His) c.878T>A (p.Leu293His) c.1043T>A (p.Leu348His) c.*543T>A (n.*543T>A) c.710T>A (p.Leu237His) c.1169T>A (p.Leu390His) c.1061T>A (p.Leu354His) c.1214T>A (p.Leu405His) c.1166T>A (p.Leu389His) c.1049T>A (p.Leu350His) c.1031T>A (p.Leu344His) | |
| 3 | g.69964884T>C | CA353559382 | MITF | c.1151T>C (p.Leu384Pro) c.1148T>C (p.Leu383Pro) n.1373T>C c.1124T>C (p.Leu375Pro) c.1114-30T>C (n.1114-30T>C) c.1217T>C (p.Leu406Pro) c.896T>C (p.Leu299Pro) c.1196T>C (p.Leu399Pro) c.1199T>C (p.Leu400Pro) c.878T>C (p.Leu293Pro) c.1043T>C (p.Leu348Pro) c.*543T>C (n.*543T>C) c.710T>C (p.Leu237Pro) c.1169T>C (p.Leu390Pro) c.1061T>C (p.Leu354Pro) c.1214T>C (p.Leu405Pro) c.1166T>C (p.Leu389Pro) c.1049T>C (p.Leu350Pro) c.1031T>C (p.Leu344Pro) | |
| 3 | g.69964884T>G | CA353559381 | MITF | c.1151T>G (p.Leu384Arg) c.1148T>G (p.Leu383Arg) n.1373T>G c.1124T>G (p.Leu375Arg) c.1114-30T>G (n.1114-30T>G) c.1217T>G (p.Leu406Arg) c.896T>G (p.Leu299Arg) c.1196T>G (p.Leu399Arg) c.1199T>G (p.Leu400Arg) c.878T>G (p.Leu293Arg) c.1043T>G (p.Leu348Arg) c.*543T>G (n.*543T>G) c.710T>G (p.Leu237Arg) c.1169T>G (p.Leu390Arg) c.1061T>G (p.Leu354Arg) c.1214T>G (p.Leu405Arg) c.1166T>G (p.Leu389Arg) c.1049T>G (p.Leu350Arg) c.1031T>G (p.Leu344Arg) | |
| 3 | g.69964885T>A | CA434433380 | MITF | c.1152T>A (p.Leu384=) c.1149T>A (p.Leu383=) n.1374T>A c.1125T>A (p.Leu375=) c.1114-29T>A (n.1114-29T>A) c.1218T>A (p.Leu406=) c.897T>A (p.Leu299=) c.1197T>A (p.Leu399=) c.1200T>A (p.Leu400=) c.879T>A (p.Leu293=) c.1044T>A (p.Leu348=) c.*544T>A (n.*544T>A) c.711T>A (p.Leu237=) c.1170T>A (p.Leu390=) c.1062T>A (p.Leu354=) c.1215T>A (p.Leu405=) c.1167T>A (p.Leu389=) c.1050T>A (p.Leu350=) c.1032T>A (p.Leu344=) | |
| 3 | g.69964885T>C | CA434433381 | MITF | c.1152T>C (p.Leu384=) c.1149T>C (p.Leu383=) n.1374T>C c.1125T>C (p.Leu375=) c.1114-29T>C (n.1114-29T>C) c.1218T>C (p.Leu406=) c.897T>C (p.Leu299=) c.1197T>C (p.Leu399=) c.1200T>C (p.Leu400=) c.879T>C (p.Leu293=) c.1044T>C (p.Leu348=) c.*544T>C (n.*544T>C) c.711T>C (p.Leu237=) c.1170T>C (p.Leu390=) c.1062T>C (p.Leu354=) c.1215T>C (p.Leu405=) c.1167T>C (p.Leu389=) c.1050T>C (p.Leu350=) c.1032T>C (p.Leu344=) | gnomAD v4 |
| 3 | g.69964885T>G | CA434433383 | MITF | c.1152T>G (p.Leu384=) c.1149T>G (p.Leu383=) n.1374T>G c.1125T>G (p.Leu375=) c.1114-29T>G (n.1114-29T>G) c.1218T>G (p.Leu406=) c.897T>G (p.Leu299=) c.1197T>G (p.Leu399=) c.1200T>G (p.Leu400=) c.879T>G (p.Leu293=) c.1044T>G (p.Leu348=) c.*544T>G (n.*544T>G) c.711T>G (p.Leu237=) c.1170T>G (p.Leu390=) c.1062T>G (p.Leu354=) c.1215T>G (p.Leu405=) c.1167T>G (p.Leu389=) c.1050T>G (p.Leu350=) c.1032T>G (p.Leu344=) | |
| 3 | g.69964886A>C | CA353559383 | MITF | c.1153A>C (p.Ile385Leu) c.1150A>C (p.Ile384Leu) n.1375A>C c.1126A>C (p.Ile376Leu) c.1114-28A>C (n.1114-28A>C) c.1219A>C (p.Ile407Leu) c.898A>C (p.Ile300Leu) c.1198A>C (p.Ile400Leu) c.1201A>C (p.Ile401Leu) c.880A>C (p.Ile294Leu) c.1045A>C (p.Ile349Leu) c.*545A>C (n.*545A>C) c.712A>C (p.Ile238Leu) c.1171A>C (p.Ile391Leu) c.1063A>C (p.Ile355Leu) c.1216A>C (p.Ile406Leu) c.1168A>C (p.Ile390Leu) c.1051A>C (p.Ile351Leu) c.1033A>C (p.Ile345Leu) | |
| 3 | g.69964886A>G | CA353559384 | MITF | c.1153A>G (p.Ile385Val) c.1150A>G (p.Ile384Val) n.1375A>G c.1126A>G (p.Ile376Val) c.1114-28A>G (n.1114-28A>G) c.1219A>G (p.Ile407Val) c.898A>G (p.Ile300Val) c.1198A>G (p.Ile400Val) c.1201A>G (p.Ile401Val) c.880A>G (p.Ile294Val) c.1045A>G (p.Ile349Val) c.*545A>G (n.*545A>G) c.712A>G (p.Ile238Val) c.1171A>G (p.Ile391Val) c.1063A>G (p.Ile355Val) c.1216A>G (p.Ile406Val) c.1168A>G (p.Ile390Val) c.1051A>G (p.Ile351Val) c.1033A>G (p.Ile345Val) | |
| 3 | g.69964886A>T | CA353559385 | MITF | c.1153A>T (p.Ile385Phe) c.1150A>T (p.Ile384Phe) n.1375A>T c.1126A>T (p.Ile376Phe) c.1114-28A>T (n.1114-28A>T) c.1219A>T (p.Ile407Phe) c.898A>T (p.Ile300Phe) c.1198A>T (p.Ile400Phe) c.1201A>T (p.Ile401Phe) c.880A>T (p.Ile294Phe) c.1045A>T (p.Ile349Phe) c.*545A>T (n.*545A>T) c.712A>T (p.Ile238Phe) c.1171A>T (p.Ile391Phe) c.1063A>T (p.Ile355Phe) c.1216A>T (p.Ile406Phe) c.1168A>T (p.Ile390Phe) c.1051A>T (p.Ile351Phe) c.1033A>T (p.Ile345Phe) | |
| 3 | g.69964887T>A | CA353559386 | MITF | c.1154T>A (p.Ile385Asn) c.1151T>A (p.Ile384Asn) n.1376T>A c.1127T>A (p.Ile376Asn) c.1114-27T>A (n.1114-27T>A) c.1220T>A (p.Ile407Asn) c.899T>A (p.Ile300Asn) c.1199T>A (p.Ile400Asn) c.1202T>A (p.Ile401Asn) c.881T>A (p.Ile294Asn) c.1046T>A (p.Ile349Asn) c.*546T>A (n.*546T>A) c.713T>A (p.Ile238Asn) c.1172T>A (p.Ile391Asn) c.1064T>A (p.Ile355Asn) c.1217T>A (p.Ile406Asn) c.1169T>A (p.Ile390Asn) c.1052T>A (p.Ile351Asn) c.1034T>A (p.Ile345Asn) | |
| 3 | g.69964887T>C | CA353559387 | MITF | c.1154T>C (p.Ile385Thr) c.1151T>C (p.Ile384Thr) n.1376T>C c.1127T>C (p.Ile376Thr) c.1114-27T>C (n.1114-27T>C) c.1220T>C (p.Ile407Thr) c.899T>C (p.Ile300Thr) c.1199T>C (p.Ile400Thr) c.1202T>C (p.Ile401Thr) c.881T>C (p.Ile294Thr) c.1046T>C (p.Ile349Thr) c.*546T>C (n.*546T>C) c.713T>C (p.Ile238Thr) c.1172T>C (p.Ile391Thr) c.1064T>C (p.Ile355Thr) c.1217T>C (p.Ile406Thr) c.1169T>C (p.Ile390Thr) c.1052T>C (p.Ile351Thr) c.1034T>C (p.Ile345Thr) | |
| 3 | g.69964887T>G | CA353559388 | MITF | c.1154T>G (p.Ile385Ser) c.1151T>G (p.Ile384Ser) n.1376T>G c.1127T>G (p.Ile376Ser) c.1114-27T>G (n.1114-27T>G) c.1220T>G (p.Ile407Ser) c.899T>G (p.Ile300Ser) c.1199T>G (p.Ile400Ser) c.1202T>G (p.Ile401Ser) c.881T>G (p.Ile294Ser) c.1046T>G (p.Ile349Ser) c.*546T>G (n.*546T>G) c.713T>G (p.Ile238Ser) c.1172T>G (p.Ile391Ser) c.1064T>G (p.Ile355Ser) c.1217T>G (p.Ile406Ser) c.1169T>G (p.Ile390Ser) c.1052T>G (p.Ile351Ser) c.1034T>G (p.Ile345Ser) | |
| 3 | g.69964888T>A | CA434433385 | MITF | c.1155T>A (p.Ile385=) c.1152T>A (p.Ile384=) n.1377T>A c.1128T>A (p.Ile376=) c.1114-26T>A (n.1114-26T>A) c.1221T>A (p.Ile407=) c.900T>A (p.Ile300=) c.1200T>A (p.Ile400=) c.1203T>A (p.Ile401=) c.882T>A (p.Ile294=) c.1047T>A (p.Ile349=) c.*547T>A (n.*547T>A) c.714T>A (p.Ile238=) c.1173T>A (p.Ile391=) c.1065T>A (p.Ile355=) c.1218T>A (p.Ile406=) c.1170T>A (p.Ile390=) c.1053T>A (p.Ile351=) c.1035T>A (p.Ile345=) | |
| 3 | g.69964888T>C | CA434433386 | MITF | c.1155T>C (p.Ile385=) c.1152T>C (p.Ile384=) n.1377T>C c.1128T>C (p.Ile376=) c.1114-26T>C (n.1114-26T>C) c.1221T>C (p.Ile407=) c.900T>C (p.Ile300=) c.1200T>C (p.Ile400=) c.1203T>C (p.Ile401=) c.882T>C (p.Ile294=) c.1047T>C (p.Ile349=) c.*547T>C (n.*547T>C) c.714T>C (p.Ile238=) c.1173T>C (p.Ile391=) c.1065T>C (p.Ile355=) c.1218T>C (p.Ile406=) c.1170T>C (p.Ile390=) c.1053T>C (p.Ile351=) c.1035T>C (p.Ile345=) | |
| 3 | g.69964888T>G | CA353559389 | MITF | c.1155T>G (p.Ile385Met) c.1152T>G (p.Ile384Met) n.1377T>G c.1128T>G (p.Ile376Met) c.1114-26T>G (n.1114-26T>G) c.1221T>G (p.Ile407Met) c.900T>G (p.Ile300Met) c.1200T>G (p.Ile400Met) c.1203T>G (p.Ile401Met) c.882T>G (p.Ile294Met) c.1047T>G (p.Ile349Met) c.*547T>G (n.*547T>G) c.714T>G (p.Ile238Met) c.1173T>G (p.Ile391Met) c.1065T>G (p.Ile355Met) c.1218T>G (p.Ile406Met) c.1170T>G (p.Ile390Met) c.1053T>G (p.Ile351Met) c.1035T>G (p.Ile345Met) | |
| 3 | g.69964889C>A | CA353559390 | MITF | c.1156C>A (p.Pro386Thr) c.1153C>A (p.Pro385Thr) n.1378C>A c.1129C>A (p.Pro377Thr) c.1114-25C>A (n.1114-25C>A) c.1222C>A (p.Pro408Thr) c.901C>A (p.Pro301Thr) c.1201C>A (p.Pro401Thr) c.1204C>A (p.Pro402Thr) c.883C>A (p.Pro295Thr) c.1048C>A (p.Pro350Thr) c.*548C>A (n.*548C>A) c.715C>A (p.Pro239Thr) c.1174C>A (p.Pro392Thr) c.1066C>A (p.Pro356Thr) c.1219C>A (p.Pro407Thr) c.1171C>A (p.Pro391Thr) c.1054C>A (p.Pro352Thr) c.1036C>A (p.Pro346Thr) | |
| 3 | g.69964889C= | CA1373413914 | MITF | c.1156C= (p.Pro386=) c.1153C= (p.Pro385=) n.1378C= c.1129C= (p.Pro377=) c.1114-25C= (n.1114-25C=) c.1222C= (p.Pro408=) c.901C= (p.Pro301=) c.1201C= (p.Pro401=) c.1204C= (p.Pro402=) c.883C= (p.Pro295=) c.1048C= (p.Pro350=) c.*548C= (n.*548C=) c.715C= (p.Pro239=) c.1174C= (p.Pro392=) c.1066C= (p.Pro356=) c.1219C= (p.Pro407=) c.1171C= (p.Pro391=) c.1054C= (p.Pro352=) c.1036C= (p.Pro346=) | |
| 3 | g.69964889C>G | CA2490626 | MITF | c.1156C>G (p.Pro386Ala) c.1153C>G (p.Pro385Ala) n.1378C>G c.1129C>G (p.Pro377Ala) c.1114-25C>G (n.1114-25C>G) c.1222C>G (p.Pro408Ala) c.901C>G (p.Pro301Ala) c.1201C>G (p.Pro401Ala) c.1204C>G (p.Pro402Ala) c.883C>G (p.Pro295Ala) c.1048C>G (p.Pro350Ala) c.*548C>G (n.*548C>G) c.715C>G (p.Pro239Ala) c.1174C>G (p.Pro392Ala) c.1066C>G (p.Pro356Ala) c.1219C>G (p.Pro407Ala) c.1171C>G (p.Pro391Ala) c.1054C>G (p.Pro352Ala) c.1036C>G (p.Pro346Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |