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 |
|---|---|---|---|---|---|
| 11 | g.66866191A= | CA1979892870 | PC | c.1181T= (p.Ile394=) n.290-16126T= c.1061T= (p.Ile354=) | |
| 11 | g.66866191A>C | CA381499386 | PC | c.1181T>G (p.Ile394Ser) n.290-16126T>G c.1061T>G (p.Ile354Ser) | |
| 11 | g.66866191A>G | CA16606295 | PC | c.1181T>C (p.Ile394Thr) n.290-16126T>C c.1061T>C (p.Ile354Thr) | ClinVar dbSNP |
| 11 | g.66866191A>T | CA381499387 | PC | c.1181T>A (p.Ile394Asn) n.290-16126T>A c.1061T>A (p.Ile354Asn) | |
| 11 | g.66866192T>A | CA381499388 | PC | c.1180A>T (p.Ile394Phe) n.290-16127A>T c.1060A>T (p.Ile354Phe) | |
| 11 | g.66866192T>C | CA381499389 | PC | c.1180A>G (p.Ile394Val) n.290-16127A>G c.1060A>G (p.Ile354Val) | |
| 11 | g.66866192T>G | CA381499390 | PC | c.1180A>C (p.Ile394Leu) n.290-16127A>C c.1060A>C (p.Ile354Leu) | |
| 11 | g.66866193G>A | CA6131969 | PC | c.1179C>T (p.Arg393=) n.290-16128C>T c.1059C>T (p.Arg353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66866193G>C | CA475375663 | PC | c.1179C>G (p.Arg393=) n.290-16128C>G c.1059C>G (p.Arg353=) | |
| 11 | g.66866193G= | CA1979892891 | PC | c.1179C= (p.Arg393=) n.290-16128C= c.1059C= (p.Arg353=) | |
| 11 | g.66866193G>T | CA475375664 | PC | c.1179C>A (p.Arg393=) n.290-16128C>A c.1059C>A (p.Arg353=) | |
| 11 | g.66866194C>A | CA381499391 | PC | c.1178G>T (p.Arg393Leu) n.290-16129G>T c.1058G>T (p.Arg353Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866194C= | CA1979892896 | PC | c.1178G= (p.Arg393=) n.290-16129G= c.1058G= (p.Arg353=) | |
| 11 | g.66866194C>G | CA381499392 | PC | c.1178G>C (p.Arg393Pro) n.290-16129G>C c.1058G>C (p.Arg353Pro) | gnomAD v4 |
| 11 | g.66866194C>T | CA6131970 | PC | c.1178G>A (p.Arg393His) n.290-16129G>A c.1058G>A (p.Arg353His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866195G>A | CA6131971 | PC | c.1177C>T (p.Arg393Cys) n.290-16130C>T c.1057C>T (p.Arg353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866195G>C | CA381499394 | PC | c.1177C>G (p.Arg393Gly) n.290-16130C>G c.1057C>G (p.Arg353Gly) | |
| 11 | g.66866195G= | CA1979892907 | PC | c.1177C= (p.Arg393=) n.290-16130C= c.1057C= (p.Arg353=) | |
| 11 | g.66866195G>T | CA381499393 | PC | c.1177C>A (p.Arg393Ser) n.290-16130C>A c.1057C>A (p.Arg353Ser) | |
| 11 | g.66866196G>A | CA475375666 | PC | c.1176C>T (p.Gly392=) n.290-16131C>T c.1056C>T (p.Gly352=) | |
| 11 | g.66866196G>C | CA475375667 | PC | c.1176C>G (p.Gly392=) n.290-16131C>G c.1056C>G (p.Gly352=) | |
| 11 | g.66866196G>T | CA475375668 | PC | c.1176C>A (p.Gly392=) n.290-16131C>A c.1056C>A (p.Gly352=) | gnomAD v4 |
| 11 | g.66866197C>A | CA381499395 | PC | c.1175G>T (p.Gly392Val) n.290-16132G>T c.1055G>T (p.Gly352Val) | |
| 11 | g.66866197C= | CA1979892911 | PC | c.1175G= (p.Gly392=) n.290-16132G= c.1055G= (p.Gly352=) | |
| 11 | g.66866197C>G | CA381499396 | PC | c.1175G>C (p.Gly392Ala) n.290-16132G>C c.1055G>C (p.Gly352Ala) | |
| 11 | g.66866197C>T | CA6131972 | PC | c.1175G>A (p.Gly392Asp) n.290-16132G>A c.1055G>A (p.Gly352Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66866198C>A | CA381499397 | PC | c.1174G>T (p.Gly392Cys) n.290-16133G>T c.1054G>T (p.Gly352Cys) | |
| 11 | g.66866198C>G | CA381499398 | PC | c.1174G>C (p.Gly392Arg) n.290-16133G>C c.1054G>C (p.Gly352Arg) | |
| 11 | g.66866198C>T | CA381499399 | PC | c.1174G>A (p.Gly392Ser) n.290-16133G>A c.1054G>A (p.Gly352Ser) | gnomAD v4 |
| 11 | g.66866199G>A | CA6131973 | PC | c.1173C>T (p.Thr391=) n.290-16134C>T c.1053C>T (p.Thr351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866199G>C | CA475375672 | PC | c.1173C>G (p.Thr391=) n.290-16134C>G c.1053C>G (p.Thr351=) | |
| 11 | g.66866199G= | CA1979892920 | PC | c.1173C= (p.Thr391=) n.290-16134C= c.1053C= (p.Thr351=) | |
| 11 | g.66866199G>T | CA475375673 | PC | c.1173C>A (p.Thr391=) n.290-16134C>A c.1053C>A (p.Thr351=) | |
| 11 | g.66866200G>A | CA381499400 | PC | c.1172C>T (p.Thr391Ile) n.290-16135C>T c.1052C>T (p.Thr351Ile) | dbSNP |
| 11 | g.66866200G>C | CA381499401 | PC | c.1172C>G (p.Thr391Ser) n.290-16135C>G c.1052C>G (p.Thr351Ser) | |
| 11 | g.66866200G= | CA1979892957 | PC | c.1172C= (p.Thr391=) n.290-16135C= c.1052C= (p.Thr351=) | |
| 11 | g.66866200G>T | CA381499402 | PC | c.1172C>A (p.Thr391Asn) n.290-16135C>A c.1052C>A (p.Thr351Asn) | gnomAD v4 |
| 11 | g.66866201T>A | CA381499403 | PC | c.1171A>T (p.Thr391Ser) n.290-16136A>T c.1051A>T (p.Thr351Ser) | |
| 11 | g.66866201T>C | CA381499404 | PC | c.1171A>G (p.Thr391Ala) n.290-16136A>G c.1051A>G (p.Thr351Ala) | COSMIC COSMIC |
| 11 | g.66866201T>G | CA381499405 | PC | c.1171A>C (p.Thr391Pro) n.290-16136A>C c.1051A>C (p.Thr351Pro) | |
| 11 | g.66866202G>A | CA475375677 | PC | c.1170C>T (p.Asp390=) n.290-16137C>T c.1050C>T (p.Asp350=) | ClinVar |
| 11 | g.66866202G>C | CA381499407 | PC | c.1170C>G (p.Asp390Glu) n.290-16137C>G c.1050C>G (p.Asp350Glu) | |
| 11 | g.66866202G>T | CA381499406 | PC | c.1170C>A (p.Asp390Glu) n.290-16137C>A c.1050C>A (p.Asp350Glu) | |
| 11 | g.66866203T>A | CA381499408 | PC | c.1169A>T (p.Asp390Val) n.290-16138A>T c.1049A>T (p.Asp350Val) | |
| 11 | g.66866203T>C | CA381499410 | PC | c.1169A>G (p.Asp390Gly) n.290-16138A>G c.1049A>G (p.Asp350Gly) | |
| 11 | g.66866203T>G | CA381499409 | PC | c.1169A>C (p.Asp390Ala) n.290-16138A>C c.1049A>C (p.Asp350Ala) | |
| 11 | g.66866203T= | CA1979892963 | PC | c.1169A= (p.Asp390=) n.290-16138A= c.1049A= (p.Asp350=) | |
| 11 | g.66866204C>A | CA381499411 | PC | c.1168G>T (p.Asp390Tyr) n.290-16139G>T c.1048G>T (p.Asp350Tyr) | |
| 11 | g.66866204C= | CA1979892972 | PC | c.1168G= (p.Asp390=) n.290-16139G= c.1048G= (p.Asp350=) | |
| 11 | g.66866204C>G | CA381499412 | PC | c.1168G>C (p.Asp390His) n.290-16139G>C c.1048G>C (p.Asp350His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866204C>T | CA6131974 | PC | c.1168G>A (p.Asp390Asn) n.290-16139G>A c.1048G>A (p.Asp350Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866205dup | CA1139662049 | PC | c.1168dup (p.Asp390GlyfsTer6) n.290-16139dup c.1048dup (p.Asp350GlyfsTer6) | ClinVar dbSNP |
| 11 | g.66866205C>A | CA475375679 | PC | c.1167G>T (p.Pro389=) n.290-16140G>T c.1047G>T (p.Pro349=) | |
| 11 | g.66866205C= | CA1979892981 | PC | c.1167G= (p.Pro389=) n.290-16140G= c.1047G= (p.Pro349=) | |
| 11 | g.66866205C>G | CA475375680 | PC | c.1167G>C (p.Pro389=) n.290-16140G>C c.1047G>C (p.Pro349=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66866205C>T | CA6131975 | PC | c.1167G>A (p.Pro389=) n.290-16140G>A c.1047G>A (p.Pro349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866206G>A | CA6131976 | PC | c.1166C>T (p.Pro389Leu) n.290-16141C>T c.1046C>T (p.Pro349Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866206G>C | CA381499413 | PC | c.1166C>G (p.Pro389Arg) n.290-16141C>G c.1046C>G (p.Pro349Arg) | |
| 11 | g.66866206G= | CA1979892993 | PC | c.1166C= (p.Pro389=) n.290-16141C= c.1046C= (p.Pro349=) | |
| 11 | g.66866206G>T | CA381499414 | PC | c.1166C>A (p.Pro389Gln) n.290-16141C>A c.1046C>A (p.Pro349Gln) | |
| 11 | g.66866207G>A | CA381499415 | PC | c.1165C>T (p.Pro389Ser) n.290-16142C>T c.1045C>T (p.Pro349Ser) | gnomAD v4 |
| 11 | g.66866207G>C | CA381499416 | PC | c.1165C>G (p.Pro389Ala) n.290-16142C>G c.1045C>G (p.Pro349Ala) | |
| 11 | g.66866207G>T | CA381499417 | PC | c.1165C>A (p.Pro389Thr) n.290-16142C>A c.1045C>A (p.Pro349Thr) | gnomAD v4 |
| 11 | g.66866208C>A | CA381499418 | PC | c.1164G>T (p.Gln388His) n.290-16143G>T c.1044G>T (p.Gln348His) | gnomAD v4 |
| 11 | g.66866208C= | CA1979893000 | PC | c.1164G= (p.Gln388=) n.290-16143G= c.1044G= (p.Gln348=) | |
| 11 | g.66866208C>G | CA381499419 | PC | c.1164G>C (p.Gln388His) n.290-16143G>C c.1044G>C (p.Gln348His) | |
| 11 | g.66866208C>T | CA475375684 | PC | c.1164G>A (p.Gln388=) n.290-16143G>A c.1044G>A (p.Gln348=) | dbSNP gnomAD v4 |
| 11 | g.66866209T>A | CA381499422 | PC | c.1163A>T (p.Gln388Leu) n.290-16144A>T c.1043A>T (p.Gln348Leu) | |
| 11 | g.66866209T>C | CA381499420 | PC | c.1163A>G (p.Gln388Arg) n.290-16144A>G c.1043A>G (p.Gln348Arg) | dbSNP |
| 11 | g.66866209T>G | CA381499421 | PC | c.1163A>C (p.Gln388Pro) n.290-16144A>C c.1043A>C (p.Gln348Pro) | |
| 11 | g.66866210G>A | CA381499423 | PC | c.1162C>T (p.Gln388Ter) n.290-16145C>T c.1042C>T (p.Gln348Ter) | |
| 11 | g.66866210G>C | CA381499424 | PC | c.1162C>G (p.Gln388Glu) n.290-16145C>G c.1042C>G (p.Gln348Glu) | |
| 11 | g.66866210G>T | CA381499425 | PC | c.1162C>A (p.Gln388Lys) n.290-16145C>A c.1042C>A (p.Gln348Lys) | |
| 11 | g.66866211G>A | CA475375686 | PC | c.1161C>T (p.Phe387=) n.290-16146C>T c.1041C>T (p.Phe347=) | |
| 11 | g.66866211G>C | CA381499426 | PC | c.1161C>G (p.Phe387Leu) n.290-16146C>G c.1041C>G (p.Phe347Leu) | |
| 11 | g.66866211G>T | CA381499427 | PC | c.1161C>A (p.Phe387Leu) n.290-16146C>A c.1041C>A (p.Phe347Leu) | |
| 11 | g.66866212A>C | CA381499428 | PC | c.1160T>G (p.Phe387Cys) n.290-16147T>G c.1040T>G (p.Phe347Cys) | |
| 11 | g.66866212A>G | CA381499429 | PC | c.1160T>C (p.Phe387Ser) n.290-16147T>C c.1040T>C (p.Phe347Ser) | |
| 11 | g.66866212A>T | CA381499430 | PC | c.1160T>A (p.Phe387Tyr) n.290-16147T>A c.1040T>A (p.Phe347Tyr) | |
| 11 | g.66866213A>C | CA381499431 | PC | c.1159T>G (p.Phe387Val) n.290-16148T>G c.1039T>G (p.Phe347Val) | |
| 11 | g.66866213A>G | CA381499432 | PC | c.1159T>C (p.Phe387Leu) n.290-16148T>C c.1039T>C (p.Phe347Leu) | |
| 11 | g.66866213A>T | CA381499433 | PC | c.1159T>A (p.Phe387Ile) n.290-16148T>A c.1039T>A (p.Phe347Ile) | |
| 11 | g.66866214G>A | CA475375690 | PC | c.1158C>T (p.Ser386=) n.290-16149C>T c.1038C>T (p.Ser346=) | |
| 11 | g.66866214G>C | CA381499435 | PC | c.1158C>G (p.Ser386Arg) n.290-16149C>G c.1038C>G (p.Ser346Arg) | |
| 11 | g.66866214G>T | CA381499434 | PC | c.1158C>A (p.Ser386Arg) n.290-16149C>A c.1038C>A (p.Ser346Arg) | gnomAD v4 |
| 11 | g.66866215C>A | CA381499436 | PC | c.1157G>T (p.Ser386Ile) n.290-16150G>T c.1037G>T (p.Ser346Ile) | |
| 11 | g.66866215C>G | CA381499437 | PC | c.1157G>C (p.Ser386Thr) n.290-16150G>C c.1037G>C (p.Ser346Thr) | |
| 11 | g.66866215C>T | CA381499438 | PC | c.1157G>A (p.Ser386Asn) n.290-16150G>A c.1037G>A (p.Ser346Asn) | |
| 11 | g.66866216T>A | CA381499439 | PC | c.1156A>T (p.Ser386Cys) n.290-16151A>T c.1036A>T (p.Ser346Cys) | |
| 11 | g.66866216T>C | CA381499440 | PC | c.1156A>G (p.Ser386Gly) n.290-16151A>G c.1036A>G (p.Ser346Gly) | |
| 11 | g.66866216T>G | CA381499441 | PC | c.1156A>C (p.Ser386Arg) n.290-16151A>C c.1036A>C (p.Ser346Arg) | |
| 11 | g.66866216_66866218delinsTGC | CA1979893030 | PC | c.1154_1156delinsGCA (p.Arg385=) n.290-16153_290-16151delinsGCA c.1034_1036delinsGCA (p.Arg345=) | |
| 11 | g.66866217G>A | CA475375694 | PC | c.1155C>T (p.Arg385=) n.290-16152C>T c.1035C>T (p.Arg345=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866217G>C | CA475375693 | PC | c.1155C>G (p.Arg385=) n.290-16152C>G c.1035C>G (p.Arg345=) | |
| 11 | g.66866217G= | CA1979893038 | PC | c.1155C= (p.Arg385=) n.290-16152C= c.1035C= (p.Arg345=) | |
| 11 | g.66866217G>T | CA475375692 | PC | c.1155C>A (p.Arg385=) n.290-16152C>A c.1035C>A (p.Arg345=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866222_66866223del | CA679446104 | PC | c.1154_1155del (p.Arg385GlnfsTer10) n.290-16153_290-16152del c.1034_1035del (p.Arg345GlnfsTer10) | ClinVar dbSNP |
| 11 | g.66866218C>A | CA381499442 | PC | c.1154G>T (p.Arg385Leu) n.290-16153G>T c.1034G>T (p.Arg345Leu) | |
| 11 | g.66866218C= | CA1979893049 | PC | c.1154G= (p.Arg385=) n.290-16153G= c.1034G= (p.Arg345=) | |
| 11 | g.66866218C>G | CA381499443 | PC | c.1154G>C (p.Arg385Pro) n.290-16153G>C c.1034G>C (p.Arg345Pro) | |
| 11 | g.66866218C>T | CA6131977 | PC | c.1154G>A (p.Arg385His) n.290-16153G>A c.1034G>A (p.Arg345His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866219G>A | CA6131978 | PC | c.1153C>T (p.Arg385Cys) n.290-16154C>T c.1033C>T (p.Arg345Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866219G>C | CA381499444 | PC | c.1153C>G (p.Arg385Gly) n.290-16154C>G c.1033C>G (p.Arg345Gly) | gnomAD v4 |
| 11 | g.66866219G= | CA1979893056 | PC | c.1153C= (p.Arg385=) n.290-16154C= c.1033C= (p.Arg345=) | |
| 11 | g.66866219G>T | CA224088926 | PC | c.1153C>A (p.Arg385Ser) n.290-16154C>A c.1033C>A (p.Arg345Ser) | dbSNP gnomAD v4 |
| 11 | g.66866220C>A | CA475375696 | PC | c.1152G>T (p.Ala384=) n.290-16155G>T c.1032G>T (p.Ala344=) | dbSNP |
| 11 | g.66866220C= | CA1979893062 | PC | c.1152G= (p.Ala384=) n.290-16155G= c.1032G= (p.Ala344=) | |
| 11 | g.66866220C>G | CA475375697 | PC | c.1152G>C (p.Ala384=) n.290-16155G>C c.1032G>C (p.Ala344=) | |
| 11 | g.66866220C>T | CA224088928 | PC | c.1152G>A (p.Ala384=) n.290-16155G>A c.1032G>A (p.Ala344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866221G>A | CA6131979 | PC | c.1151C>T (p.Ala384Val) n.290-16156C>T c.1031C>T (p.Ala344Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866221G>C | CA381499446 | PC | c.1151C>G (p.Ala384Gly) n.290-16156C>G c.1031C>G (p.Ala344Gly) | |
| 11 | g.66866221G= | CA1979893081 | PC | c.1151C= (p.Ala384=) n.290-16156C= c.1031C= (p.Ala344=) | |
| 11 | g.66866221G>T | CA381499445 | PC | c.1151C>A (p.Ala384Glu) n.290-16156C>A c.1031C>A (p.Ala344Glu) | COSMIC COSMIC |
| 11 | g.66866222C>A | CA381499447 | PC | c.1150G>T (p.Ala384Ser) n.290-16157G>T c.1030G>T (p.Ala344Ser) | |
| 11 | g.66866222C= | CA1979893098 | PC | c.1150G= (p.Ala384=) n.290-16157G= c.1030G= (p.Ala344=) | |
| 11 | g.66866222C>G | CA381499448 | PC | c.1150G>C (p.Ala384Pro) n.290-16157G>C c.1030G>C (p.Ala344Pro) | |
| 11 | g.66866222C>T | CA381499449 | PC | c.1150G>A (p.Ala384Thr) n.290-16157G>A c.1030G>A (p.Ala344Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.66866223G>A | CA224088941 | PC | c.1149C>T (p.Pro383=) n.290-16158C>T c.1029C>T (p.Pro343=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866223G>C | CA475375698 | PC | c.1149C>G (p.Pro383=) n.290-16158C>G c.1029C>G (p.Pro343=) | ClinVar dbSNP |
| 11 | g.66866223G= | CA1979893118 | PC | c.1149C= (p.Pro383=) n.290-16158C= c.1029C= (p.Pro343=) | |
| 11 | g.66866223G>T | CA475375699 | PC | c.1149C>A (p.Pro383=) n.290-16158C>A c.1029C>A (p.Pro343=) | |
| 11 | g.66866224G>A | CA381499450 | PC | c.1148C>T (p.Pro383Leu) n.290-16159C>T c.1028C>T (p.Pro343Leu) | |
| 11 | g.66866224G>C | CA381499451 | PC | c.1148C>G (p.Pro383Arg) n.290-16159C>G c.1028C>G (p.Pro343Arg) | |
| 11 | g.66866224G>T | CA381499452 | PC | c.1148C>A (p.Pro383His) n.290-16159C>A c.1028C>A (p.Pro343His) | gnomAD v4 |
| 11 | g.66866225G>A | CA381499453 | PC | c.1147C>T (p.Pro383Ser) n.290-16160C>T c.1027C>T (p.Pro343Ser) | |
| 11 | g.66866225G>C | CA381499455 | PC | c.1147C>G (p.Pro383Ala) n.290-16160C>G c.1027C>G (p.Pro343Ala) | |
| 11 | g.66866225G>T | CA381499454 | PC | c.1147C>A (p.Pro383Thr) n.290-16160C>A c.1027C>A (p.Pro343Thr) | |
| 11 | g.66866226G>A | CA224088944 | PC | c.1146C>T (p.Asp382=) n.290-16161C>T c.1026C>T (p.Asp342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866226G>C | CA381499456 | PC | c.1146C>G (p.Asp382Glu) n.290-16161C>G c.1026C>G (p.Asp342Glu) | |
| 11 | g.66866226G= | CA1979893145 | PC | c.1146C= (p.Asp382=) n.290-16161C= c.1026C= (p.Asp342=) | |
| 11 | g.66866226G>T | CA381499457 | PC | c.1146C>A (p.Asp382Glu) n.290-16161C>A c.1026C>A (p.Asp342Glu) | |
| 11 | g.66866227T>A | CA381499458 | PC | c.1145A>T (p.Asp382Val) n.290-16162A>T c.1025A>T (p.Asp342Val) | |
| 11 | g.66866227T>C | CA381499459 | PC | c.1145A>G (p.Asp382Gly) n.290-16162A>G c.1025A>G (p.Asp342Gly) | |
| 11 | g.66866227T>G | CA381499460 | PC | c.1145A>C (p.Asp382Ala) n.290-16162A>C c.1025A>C (p.Asp342Ala) | |
| 11 | g.66866228C>A | CA381499462 | PC | c.1144G>T (p.Asp382Tyr) n.290-16163G>T c.1024G>T (p.Asp342Tyr) | |
| 11 | g.66866228C>G | CA381499463 | PC | c.1144G>C (p.Asp382His) n.290-16163G>C c.1024G>C (p.Asp342His) | |
| 11 | g.66866228C>T | CA381499461 | PC | c.1144G>A (p.Asp382Asn) n.290-16163G>A c.1024G>A (p.Asp342Asn) | |
| 11 | g.66866230_66866241del | CA2695214791 | PC | c.1133_1144del (p.Val378_Glu381del) n.290-16174_290-16163del c.1013_1024del (p.Val338_Glu341del) | |
| 11 | g.66866229C>A | CA381499465 | PC | c.1143G>T (p.Glu381Asp) n.290-16164G>T c.1023G>T (p.Glu341Asp) | |
| 11 | g.66866229C= | CA1979893157 | PC | c.1143G= (p.Glu381=) n.290-16164G= c.1023G= (p.Glu341=) | |
| 11 | g.66866229C>G | CA381499464 | PC | c.1143G>C (p.Glu381Asp) n.290-16164G>C c.1023G>C (p.Glu341Asp) | |
| 11 | g.66866229C>T | CA475375704 | PC | c.1143G>A (p.Glu381=) n.290-16164G>A c.1023G>A (p.Glu341=) | dbSNP gnomAD v2 |
| 11 | g.66866230T>A | CA381499468 | PC | c.1142A>T (p.Glu381Val) n.290-16165A>T c.1022A>T (p.Glu341Val) | |
| 11 | g.66866230T>C | CA381499466 | PC | c.1142A>G (p.Glu381Gly) n.290-16165A>G c.1022A>G (p.Glu341Gly) | dbSNP |
| 11 | g.66866230T>G | CA381499467 | PC | c.1142A>C (p.Glu381Ala) n.290-16165A>C c.1022A>C (p.Glu341Ala) | |
| 11 | g.66866230T= | CA1979893166 | PC | c.1142A= (p.Glu381=) n.290-16165A= c.1022A= (p.Glu341=) | |
| 11 | g.66866231C>A | CA381499469 | PC | c.1141G>T (p.Glu381Ter) n.290-16166G>T c.1021G>T (p.Glu341Ter) | |
| 11 | g.66866231C= | CA1979893189 | PC | c.1141G= (p.Glu381=) n.290-16166G= c.1021G= (p.Glu341=) | |
| 11 | g.66866231C>G | CA381499470 | PC | c.1141G>C (p.Glu381Gln) n.290-16166G>C c.1021G>C (p.Glu341Gln) | |
| 11 | g.66866231C>T | CA381499471 | PC | c.1141G>A (p.Glu381Lys) n.290-16166G>A c.1021G>A (p.Glu341Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866232G>A | CA224088945 | PC | c.1140C>T (p.Thr380=) n.290-16167C>T c.1020C>T (p.Thr340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866232G>C | CA475375708 | PC | c.1140C>G (p.Thr380=) n.290-16167C>G c.1020C>G (p.Thr340=) | |
| 11 | g.66866232G= | CA1979893196 | PC | c.1140C= (p.Thr380=) n.290-16167C= c.1020C= (p.Thr340=) | |
| 11 | g.66866232G>T | CA475375709 | PC | c.1140C>A (p.Thr380=) n.290-16167C>A c.1020C>A (p.Thr340=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.66866233G>A | CA381499472 | PC | c.1139C>T (p.Thr380Ile) n.290-16168C>T c.1019C>T (p.Thr340Ile) | |
| 11 | g.66866233G>C | CA381499473 | PC | c.1139C>G (p.Thr380Ser) n.290-16168C>G c.1019C>G (p.Thr340Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66866233G= | CA1979893209 | PC | c.1139C= (p.Thr380=) n.290-16168C= c.1019C= (p.Thr340=) | |
| 11 | g.66866233G>T | CA381499474 | PC | c.1139C>A (p.Thr380Asn) n.290-16168C>A c.1019C>A (p.Thr340Asn) | |
| 11 | g.66866234T>A | CA381499475 | PC | c.1138A>T (p.Thr380Ser) n.290-16169A>T c.1018A>T (p.Thr340Ser) | |
| 11 | g.66866234T>C | CA381499476 | PC | c.1138A>G (p.Thr380Ala) n.290-16169A>G c.1018A>G (p.Thr340Ala) | |
| 11 | g.66866234T>G | CA381499477 | PC | c.1138A>C (p.Thr380Pro) n.290-16169A>C c.1018A>C (p.Thr340Pro) | |
| 11 | g.66866235G>A | CA475375711 | PC | c.1137C>T (p.Thr379=) n.290-16170C>T c.1017C>T (p.Thr339=) | |
| 11 | g.66866235G>C | CA475375712 | PC | c.1137C>G (p.Thr379=) n.290-16170C>G c.1017C>G (p.Thr339=) | |
| 11 | g.66866235G>T | CA475375713 | PC | c.1137C>A (p.Thr379=) n.290-16170C>A c.1017C>A (p.Thr339=) | |
| 11 | g.66866237_66866244del | CA2614540838 | PC | c.1130_1137del (p.Arg377HisfsTer16) n.290-16177_290-16170del c.1010_1017del (p.Arg337HisfsTer16) | gnomAD v4 |
| 11 | g.66866236G>A | CA381499480 | PC | c.1136C>T (p.Thr379Ile) n.290-16171C>T c.1016C>T (p.Thr339Ile) | |
| 11 | g.66866236G>C | CA381499478 | PC | c.1136C>G (p.Thr379Ser) n.290-16171C>G c.1016C>G (p.Thr339Ser) | |
| 11 | g.66866236G>T | CA381499479 | PC | c.1136C>A (p.Thr379Asn) n.290-16171C>A c.1016C>A (p.Thr339Asn) | |
| 11 | g.66866237T>A | CA381499481 | PC | c.1135A>T (p.Thr379Ser) n.290-16172A>T c.1015A>T (p.Thr339Ser) | COSMIC COSMIC |
| 11 | g.66866237T>C | CA381499482 | PC | c.1135A>G (p.Thr379Ala) n.290-16172A>G c.1015A>G (p.Thr339Ala) | |
| 11 | g.66866237T>G | CA381499483 | PC | c.1135A>C (p.Thr379Pro) n.290-16172A>C c.1015A>C (p.Thr339Pro) | |
| 11 | g.66866238G>A | CA475375716 | PC | c.1134C>T (p.Val378=) n.290-16173C>T c.1014C>T (p.Val338=) | gnomAD v4 |
| 11 | g.66866238G>C | CA475375718 | PC | c.1134C>G (p.Val378=) n.290-16173C>G c.1014C>G (p.Val338=) | |
| 11 | g.66866238G>T | CA475375717 | PC | c.1134C>A (p.Val378=) n.290-16173C>A c.1014C>A (p.Val338=) | |
| 11 | g.66866239A>C | CA381499484 | PC | c.1133T>G (p.Val378Gly) n.290-16174T>G c.1013T>G (p.Val338Gly) | |
| 11 | g.66866239A>G | CA381499485 | PC | c.1133T>C (p.Val378Ala) n.290-16174T>C c.1013T>C (p.Val338Ala) | gnomAD v4 |
| 11 | g.66866239A>T | CA381499486 | PC | c.1133T>A (p.Val378Asp) n.290-16174T>A c.1013T>A (p.Val338Asp) | |
| 11 | g.66866240C>A | CA381499487 | PC | c.1132G>T (p.Val378Phe) n.290-16175G>T c.1012G>T (p.Val338Phe) | ClinVar gnomAD v4 |
| 11 | g.66866240C>G | CA381499488 | PC | c.1132G>C (p.Val378Leu) n.290-16175G>C c.1012G>C (p.Val338Leu) | gnomAD v4 |
| 11 | g.66866240C>T | CA381499489 | PC | c.1132G>A (p.Val378Ile) n.290-16175G>A c.1012G>A (p.Val338Ile) | gnomAD v4 |
| 11 | g.66866241C>A | CA475375720 | PC | c.1131G>T (p.Arg377=) n.290-16176G>T c.1011G>T (p.Arg337=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.66866241C= | CA1979893226 | PC | c.1131G= (p.Arg377=) n.290-16176G= c.1011G= (p.Arg337=) | |
| 11 | g.66866241C>G | CA475375721 | PC | c.1131G>C (p.Arg377=) n.290-16176G>C c.1011G>C (p.Arg337=) | |
| 11 | g.66866241C>T | CA475375722 | PC | c.1131G>A (p.Arg377=) n.290-16176G>A c.1011G>A (p.Arg337=) | ClinVar gnomAD v4 |
| 11 | g.66866242C>A | CA381499490 | PC | c.1130G>T (p.Arg377Leu) n.290-16177G>T c.1010G>T (p.Arg337Leu) | |
| 11 | g.66866242C= | CA1979893229 | PC | c.1130G= (p.Arg377=) n.290-16177G= c.1010G= (p.Arg337=) | |
| 11 | g.66866242C>G | CA381499491 | PC | c.1130G>C (p.Arg377Pro) n.290-16177G>C c.1010G>C (p.Arg337Pro) | |
| 11 | g.66866242C>T | CA381499492 | PC | c.1130G>A (p.Arg377Gln) n.290-16177G>A c.1010G>A (p.Arg337Gln) | dbSNP gnomAD v4 |
| 11 | g.66866243G>A | CA381499494 | PC | c.1129C>T (p.Arg377Trp) n.290-16178C>T c.1009C>T (p.Arg337Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866243G>C | CA381499493 | PC | c.1129C>G (p.Arg377Gly) n.290-16178C>G c.1009C>G (p.Arg337Gly) | |
| 11 | g.66866243G= | CA1979893231 | PC | c.1129C= (p.Arg377=) n.290-16178C= c.1009C= (p.Arg337=) | |
| 11 | g.66866243G>T | CA475375724 | PC | c.1129C>A (p.Arg377=) n.290-16178C>A c.1009C>A (p.Arg337=) | |
| 11 | g.66866244G>A | CA475375725 | PC | c.1128C>T (p.Cys376=) n.290-16179C>T c.1008C>T (p.Cys336=) | gnomAD v4 |
| 11 | g.66866244G>C | CA381499495 | PC | c.1128C>G (p.Cys376Trp) n.290-16179C>G c.1008C>G (p.Cys336Trp) | |
| 11 | g.66866244G>T | CA381499496 | PC | c.1128C>A (p.Cys376Ter) n.290-16179C>A c.1008C>A (p.Cys336Ter) | |
| 11 | g.66866245C>A | CA381499497 | PC | c.1127G>T (p.Cys376Phe) n.290-16180G>T c.1007G>T (p.Cys336Phe) | |
| 11 | g.66866245C>G | CA381499498 | PC | c.1127G>C (p.Cys376Ser) n.290-16180G>C c.1007G>C (p.Cys336Ser) | |
| 11 | g.66866245C>T | CA381499499 | PC | c.1127G>A (p.Cys376Tyr) n.290-16180G>A c.1007G>A (p.Cys336Tyr) | |
| 11 | g.66866246A>C | CA381499500 | PC | c.1126T>G (p.Cys376Gly) n.290-16181T>G c.1006T>G (p.Cys336Gly) | |
| 11 | g.66866246A>G | CA381499501 | PC | c.1126T>C (p.Cys376Arg) n.290-16181T>C c.1006T>C (p.Cys336Arg) | |
| 11 | g.66866246A>T | CA381499502 | PC | c.1126T>A (p.Cys376Ser) n.290-16181T>A c.1006T>A (p.Cys336Ser) | |
| 11 | g.66866247C>A | CA381499503 | PC | c.1125G>T (p.Gln375His) n.290-16182G>T c.1005G>T (p.Gln335His) | |
| 11 | g.66866247C>G | CA381499504 | PC | c.1125G>C (p.Gln375His) n.290-16182G>C c.1005G>C (p.Gln335His) | |
| 11 | g.66866247C>T | CA475375729 | PC | c.1125G>A (p.Gln375=) n.290-16182G>A c.1005G>A (p.Gln335=) | |
| 11 | g.66866248T>A | CA381499505 | PC | c.1124A>T (p.Gln375Leu) n.290-16183A>T c.1004A>T (p.Gln335Leu) | |
| 11 | g.66866248T>C | CA381499506 | PC | c.1124A>G (p.Gln375Arg) n.290-16183A>G c.1004A>G (p.Gln335Arg) | |
| 11 | g.66866248T>G | CA381499507 | PC | c.1124A>C (p.Gln375Pro) n.290-16183A>C c.1004A>C (p.Gln335Pro) | |
| 11 | g.66866249G>A | CA381499510 | PC | c.1123C>T (p.Gln375Ter) n.290-16184C>T c.1003C>T (p.Gln335Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66866249G>C | CA381499508 | PC | c.1123C>G (p.Gln375Glu) n.290-16184C>G c.1003C>G (p.Gln335Glu) | |
| 11 | g.66866249G= | CA1979893238 | PC | c.1123C= (p.Gln375=) n.290-16184C= c.1003C= (p.Gln335=) | |
| 11 | g.66866249G>T | CA381499509 | PC | c.1123C>A (p.Gln375Lys) n.290-16184C>A c.1003C>A (p.Gln335Lys) | |
| 11 | g.66866250G>A | CA475375733 | PC | c.1122C>T (p.Ile374=) n.290-16185C>T c.1002C>T (p.Ile334=) | |
| 11 | g.66866250G>C | CA381499511 | PC | c.1122C>G (p.Ile374Met) n.290-16185C>G c.1002C>G (p.Ile334Met) | |
| 11 | g.66866250G>T | CA475375734 | PC | c.1122C>A (p.Ile374=) n.290-16185C>A c.1002C>A (p.Ile334=) | |
| 11 | g.66866251A>C | CA381499512 | PC | c.1121T>G (p.Ile374Ser) n.290-16186T>G c.1001T>G (p.Ile334Ser) | |
| 11 | g.66866251A>G | CA381499513 | PC | c.1121T>C (p.Ile374Thr) n.290-16186T>C c.1001T>C (p.Ile334Thr) | gnomAD v4 |
| 11 | g.66866251A>T | CA381499514 | PC | c.1121T>A (p.Ile374Asn) n.290-16186T>A c.1001T>A (p.Ile334Asn) | |
| 11 | g.66866252T>A | CA381499515 | PC | c.1120A>T (p.Ile374Phe) n.290-16187A>T c.1000A>T (p.Ile334Phe) | |
| 11 | g.66866252T>C | CA381499516 | PC | c.1120A>G (p.Ile374Val) n.290-16187A>G c.1000A>G (p.Ile334Val) | dbSNP |
| 11 | g.66866252T>G | CA381499517 | PC | c.1120A>C (p.Ile374Leu) n.290-16187A>C c.1000A>C (p.Ile334Leu) | dbSNP |
| 11 | g.66866252T= | CA1979893243 | PC | c.1120A= (p.Ile374=) n.290-16187A= c.1000A= (p.Ile334=) | |
| 11 | g.66866253G>A | CA475375738 | PC | c.1119C>T (p.Ala373=) n.290-16188C>T c.999C>T (p.Ala333=) | |
| 11 | g.66866253G>C | CA475375739 | PC | c.1119C>G (p.Ala373=) n.290-16188C>G c.999C>G (p.Ala333=) | |
| 11 | g.66866253G>T | CA475375741 | PC | c.1119C>A (p.Ala373=) n.290-16188C>A c.999C>A (p.Ala333=) | |
| 11 | g.66866254G>A | CA381499518 | PC | c.1118C>T (p.Ala373Val) n.290-16189C>T c.998C>T (p.Ala333Val) | |
| 11 | g.66866254G>C | CA381499519 | PC | c.1118C>G (p.Ala373Gly) n.290-16189C>G c.998C>G (p.Ala333Gly) | |
| 11 | g.66866254G>T | CA381499520 | PC | c.1118C>A (p.Ala373Asp) n.290-16189C>A c.998C>A (p.Ala333Asp) | |
| 11 | g.66866255C>A | CA381499521 | PC | c.1117G>T (p.Ala373Ser) n.290-16190G>T c.997G>T (p.Ala333Ser) | |
| 11 | g.66866255C>G | CA381499522 | PC | c.1117G>C (p.Ala373Pro) n.290-16190G>C c.997G>C (p.Ala333Pro) | |
| 11 | g.66866255C>T | CA381499523 | PC | c.1117G>A (p.Ala373Thr) n.290-16190G>A c.997G>A (p.Ala333Thr) | |
| 11 | g.66866256A>C | CA381499525 | PC | c.1116T>G (p.Cys372Trp) n.290-16191T>G c.996T>G (p.Cys332Trp) | |
| 11 | g.66866256A>G | CA475375747 | PC | c.1116T>C (p.Cys372=) n.290-16191T>C c.996T>C (p.Cys332=) | |
| 11 | g.66866256A>T | CA381499524 | PC | c.1116T>A (p.Cys372Ter) n.290-16191T>A c.996T>A (p.Cys332Ter) | |
| 11 | g.66866257C>A | CA381499526 | PC | c.1115G>T (p.Cys372Phe) n.290-16192G>T c.995G>T (p.Cys332Phe) | |
| 11 | g.66866257C>G | CA381499527 | PC | c.1115G>C (p.Cys372Ser) n.290-16192G>C c.995G>C (p.Cys332Ser) | |
| 11 | g.66866257C>T | CA381499528 | PC | c.1115G>A (p.Cys372Tyr) n.290-16192G>A c.995G>A (p.Cys332Tyr) | |
| 11 | g.66866258A>C | CA381499529 | PC | c.1114T>G (p.Cys372Gly) n.290-16193T>G c.994T>G (p.Cys332Gly) | |
| 11 | g.66866258A>G | CA381499530 | PC | c.1114T>C (p.Cys372Arg) n.290-16193T>C c.994T>C (p.Cys332Arg) | |
| 11 | g.66866258A>T | CA381499531 | PC | c.1114T>A (p.Cys372Ser) n.290-16193T>A c.994T>A (p.Cys332Ser) | |
| 11 | g.66866259C>A | CA475375751 | PC | c.1113G>T (p.Gly371=) n.290-16194G>T c.993G>T (p.Gly331=) | |
| 11 | g.66866259C= | CA1979893250 | PC | c.1113G= (p.Gly371=) n.290-16194G= c.993G= (p.Gly331=) | |
| 11 | g.66866259C>G | CA475375750 | PC | c.1113G>C (p.Gly371=) n.290-16194G>C c.993G>C (p.Gly331=) | |
| 11 | g.66866259C>T | CA475375749 | PC | c.1113G>A (p.Gly371=) n.290-16194G>A c.993G>A (p.Gly331=) | dbSNP |
| 11 | g.66866260C>A | CA381499534 | PC | c.1112G>T (p.Gly371Val) n.290-16195G>T c.992G>T (p.Gly331Val) | |
| 11 | g.66866260C>G | CA381499533 | PC | c.1112G>C (p.Gly371Ala) n.290-16195G>C c.992G>C (p.Gly331Ala) | |
| 11 | g.66866260C>T | CA381499532 | PC | c.1112G>A (p.Gly371Glu) n.290-16195G>A c.992G>A (p.Gly331Glu) | |
| 11 | g.66866261C>A | CA381499535 | PC | c.1111G>T (p.Gly371Trp) n.290-16196G>T c.991G>T (p.Gly331Trp) | |
| 11 | g.66866261C= | CA1979893261 | PC | c.1111G= (p.Gly371=) n.290-16196G= c.991G= (p.Gly331=) | |
| 11 | g.66866261C>G | CA381499536 | PC | c.1111G>C (p.Gly371Arg) n.290-16196G>C c.991G>C (p.Gly331Arg) | gnomAD v4 |
| 11 | g.66866261C>T | CA6131980 | PC | c.1111G>A (p.Gly371Arg) n.290-16196G>A c.991G>A (p.Gly331Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66866262G>A | CA6131981 | PC | c.1110C>T (p.Asn370=) n.290-16197C>T c.990C>T (p.Asn330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.66866262G>C | CA381499537 | PC | c.1110C>G (p.Asn370Lys) n.290-16197C>G c.990C>G (p.Asn330Lys) | |
| 11 | g.66866262G= | CA1979893289 | PC | c.1110C= (p.Asn370=) n.290-16197C= c.990C= (p.Asn330=) | |
| 11 | g.66866262G>T | CA381499538 | PC | c.1110C>A (p.Asn370Lys) n.290-16197C>A c.990C>A (p.Asn330Lys) | |
| 11 | g.66866263T>A | CA381499541 | PC | c.1109A>T (p.Asn370Ile) n.290-16198A>T c.989A>T (p.Asn330Ile) | |
| 11 | g.66866263T>C | CA381499539 | PC | c.1109A>G (p.Asn370Ser) n.290-16198A>G c.989A>G (p.Asn330Ser) | |
| 11 | g.66866263T>G | CA381499540 | PC | c.1109A>C (p.Asn370Thr) n.290-16198A>C c.989A>C (p.Asn330Thr) | |
| 11 | g.66866264T>A | CA381499542 | PC | c.1108A>T (p.Asn370Tyr) n.290-16199A>T c.988A>T (p.Asn330Tyr) | |
| 11 | g.66866264T>C | CA381499543 | PC | c.1108A>G (p.Asn370Asp) n.290-16199A>G c.988A>G (p.Asn330Asp) | |
| 11 | g.66866264T>G | CA381499544 | PC | c.1108A>C (p.Asn370His) n.290-16199A>C c.988A>C (p.Asn330His) | |
| 11 | g.66866265G>A | CA475375753 | PC | c.1107C>T (p.Ile369=) n.290-16200C>T c.987C>T (p.Ile329=) | |
| 11 | g.66866265G>C | CA381499545 | PC | c.1107C>G (p.Ile369Met) n.290-16200C>G c.987C>G (p.Ile329Met) | dbSNP |
| 11 | g.66866265G= | CA1979893295 | PC | c.1107C= (p.Ile369=) n.290-16200C= c.987C= (p.Ile329=) | |
| 11 | g.66866265G>T | CA475375754 | PC | c.1107C>A (p.Ile369=) n.290-16200C>A c.987C>A (p.Ile329=) | gnomAD v4 |
| 11 | g.66866266A>C | CA381499546 | PC | c.1106T>G (p.Ile369Ser) n.290-16201T>G c.986T>G (p.Ile329Ser) | |
| 11 | g.66866266A>G | CA381499547 | PC | c.1106T>C (p.Ile369Thr) n.290-16201T>C c.986T>C (p.Ile329Thr) | |
| 11 | g.66866266A>T | CA381499548 | PC | c.1106T>A (p.Ile369Asn) n.290-16201T>A c.986T>A (p.Ile329Asn) | |
| 11 | g.66866267T>A | CA381499549 | PC | c.1105A>T (p.Ile369Phe) n.290-16202A>T c.985A>T (p.Ile329Phe) | |
| 11 | g.66866267T>C | CA381499550 | PC | c.1105A>G (p.Ile369Val) n.290-16202A>G c.985A>G (p.Ile329Val) | gnomAD v4 |
| 11 | g.66866267T>G | CA381499551 | PC | c.1105A>C (p.Ile369Leu) n.290-16202A>C c.985A>C (p.Ile329Leu) | |
| 11 | g.66866268G>A | CA475375755 | PC | c.1104C>T (p.Arg368=) n.290-16203C>T c.984C>T (p.Arg328=) | ClinVar dbSNP |
| 11 | g.66866268G>C | CA475375756 | PC | c.1104C>G (p.Arg368=) n.290-16203C>G c.984C>G (p.Arg328=) | |
| 11 | g.66866268G= | CA1979893299 | PC | c.1104C= (p.Arg368=) n.290-16203C= c.984C= (p.Arg328=) | |
| 11 | g.66866268G>T | CA475375757 | PC | c.1104C>A (p.Arg368=) n.290-16203C>A c.984C>A (p.Arg328=) | |
| 11 | g.66866269C>A | CA381499552 | PC | c.1103G>T (p.Arg368Leu) n.290-16204G>T c.983G>T (p.Arg328Leu) | gnomAD v4 |
| 11 | g.66866269C= | CA1979893308 | PC | c.1103G= (p.Arg368=) n.290-16204G= c.983G= (p.Arg328=) | |
| 11 | g.66866269C>G | CA381499553 | PC | c.1103G>C (p.Arg368Pro) n.290-16204G>C c.983G>C (p.Arg328Pro) | gnomAD v4 |
| 11 | g.66866269C>T | CA6131982 | PC | c.1103G>A (p.Arg368His) n.290-16204G>A c.983G>A (p.Arg328His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.66866270G>A | CA6131983 | PC | c.1102C>T (p.Arg368Cys) n.290-16205C>T c.982C>T (p.Arg328Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.66866270G>C | CA381499555 | PC | c.1102C>G (p.Arg368Gly) n.290-16205C>G c.982C>G (p.Arg328Gly) | |
| 11 | g.66866270G= | CA1979893318 | PC | c.1102C= (p.Arg368=) n.290-16205C= c.982C= (p.Arg328=) | |
| 11 | g.66866270G>T | CA381499554 | PC | c.1102C>A (p.Arg368Ser) n.290-16205C>A c.982C>A (p.Arg328Ser) | |
| 11 | g.66866271G>A | CA475375759 | PC | c.1101C>T (p.Ile367=) n.290-16206C>T c.981C>T (p.Ile327=) | COSMIC COSMIC |
| 11 | g.66866271G>C | CA381499556 | PC | c.1101C>G (p.Ile367Met) n.290-16206C>G c.981C>G (p.Ile327Met) | |
| 11 | g.66866271G>T | CA475375760 | PC | c.1101C>A (p.Ile367=) n.290-16206C>A c.981C>A (p.Ile327=) | |
| 11 | g.66866272A= | CA1979893331 | PC | c.1100T= (p.Ile367=) n.290-16207T= c.980T= (p.Ile327=) | |
| 11 | g.66866272A>C | CA381499557 | PC | c.1100T>G (p.Ile367Ser) n.290-16207T>G c.980T>G (p.Ile327Ser) | |
| 11 | g.66866272A>G | CA381499558 | PC | c.1100T>C (p.Ile367Thr) n.290-16207T>C c.980T>C (p.Ile327Thr) | |
| 11 | g.66866272A>T | CA381499559 | PC | c.1100T>A (p.Ile367Asn) n.290-16207T>A c.980T>A (p.Ile327Asn) | dbSNP |
| 11 | g.66866273T>A | CA381499560 | PC | c.1099A>T (p.Ile367Phe) n.290-16208A>T c.979A>T (p.Ile327Phe) | gnomAD v4 |
| 11 | g.66866273T>C | CA381499561 | PC | c.1099A>G (p.Ile367Val) n.290-16208A>G c.979A>G (p.Ile327Val) | gnomAD v4 |
| 11 | g.66866273T>G | CA381499562 | PC | c.1099A>C (p.Ile367Leu) n.290-16208A>C c.979A>C (p.Ile327Leu) | |
| 11 | g.66866274G>A | CA6131984 | PC | c.1098C>T (p.Asn366=) n.290-16209C>T c.978C>T (p.Asn326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866274G>C | CA381499563 | PC | c.1098C>G (p.Asn366Lys) n.290-16209C>G c.978C>G (p.Asn326Lys) | |
| 11 | g.66866274G= | CA1979893339 | PC | c.1098C= (p.Asn366=) n.290-16209C= c.978C= (p.Asn326=) | |
| 11 | g.66866274G>T | CA381499564 | PC | c.1098C>A (p.Asn366Lys) n.290-16209C>A c.978C>A (p.Asn326Lys) | |
| 11 | g.66866275T>A | CA381499565 | PC | c.1097A>T (p.Asn366Ile) n.290-16210A>T c.977A>T (p.Asn326Ile) | |
| 11 | g.66866275T>C | CA381499566 | PC | c.1097A>G (p.Asn366Ser) n.290-16210A>G c.977A>G (p.Asn326Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66866275T>G | CA381499567 | PC | c.1097A>C (p.Asn366Thr) n.290-16210A>C c.977A>C (p.Asn326Thr) | |
| 11 | g.66866275T= | CA1979893347 | PC | c.1097A= (p.Asn366=) n.290-16210A= c.977A= (p.Asn326=) | |
| 11 | g.66866276T>A | CA381499570 | PC | c.1096A>T (p.Asn366Tyr) n.290-16211A>T c.976A>T (p.Asn326Tyr) | |
| 11 | g.66866276T>C | CA381499568 | PC | c.1096A>G (p.Asn366Asp) n.290-16211A>G c.976A>G (p.Asn326Asp) | |
| 11 | g.66866276T>G | CA381499569 | PC | c.1096A>C (p.Asn366His) n.290-16211A>C c.976A>C (p.Asn326His) | |
| 11 | g.66866277C>A | CA381499571 | PC | c.1095G>T (p.Glu365Asp) n.290-16212G>T c.975G>T (p.Glu325Asp) | |
| 11 | g.66866277C>G | CA381499572 | PC | c.1095G>C (p.Glu365Asp) n.290-16212G>C c.975G>C (p.Glu325Asp) | |
| 11 | g.66866277C>T | CA475375761 | PC | c.1095G>A (p.Glu365=) n.290-16212G>A c.975G>A (p.Glu325=) | ClinVar gnomAD v4 |
| 11 | g.66866279_66866281del | CA2580084562 | PC | c.1093_1095del (p.Glu365del) n.290-16214_290-16212del c.973_975del (p.Glu325del) | ClinVar |
| 11 | g.66866278T>A | CA6131986 | PC | c.1094A>T (p.Glu365Val) n.290-16213A>T c.974A>T (p.Glu325Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66866278T>C | CA6131985 | PC | c.1094A>G (p.Glu365Gly) n.290-16213A>G c.974A>G (p.Glu325Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66866278T>G | CA381499573 | PC | c.1094A>C (p.Glu365Ala) n.290-16213A>C c.974A>C (p.Glu325Ala) | |
| 11 | g.66866278T= | CA1979893353 | PC | c.1094A= (p.Glu365=) n.290-16213A= c.974A= (p.Glu325=) | |
| 11 | g.66866279C>A | CA381499574 | PC | c.1093G>T (p.Glu365Ter) n.290-16214G>T c.973G>T (p.Glu325Ter) | |
| 11 | g.66866279C>G | CA381499575 | PC | c.1093G>C (p.Glu365Gln) n.290-16214G>C c.973G>C (p.Glu325Gln) | |
| 11 | g.66866279C>T | CA381499576 | PC | c.1093G>A (p.Glu365Lys) n.290-16214G>A c.973G>A (p.Glu325Lys) | gnomAD v4 |
| 11 | g.66866280C>A | CA381499577 | PC | c.1092G>T (p.Gln364His) n.290-16215G>T c.972G>T (p.Gln324His) | |
| 11 | g.66866280C= | CA1979893360 | PC | c.1092G= (p.Gln364=) n.290-16215G= c.972G= (p.Gln324=) | |
| 11 | g.66866280C>G | CA381499578 | PC | c.1092G>C (p.Gln364His) n.290-16215G>C c.972G>C (p.Gln324His) | |
| 11 | g.66866280C>T | CA475375762 | PC | c.1092G>A (p.Gln364=) n.290-16215G>A c.972G>A (p.Gln324=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866280_66866281insGCATAGGA | CA2525246629 | PC | c.1091_1092insTCCTATGC (p.Gln364HisfsTer?) n.290-16216_290-16215insTCCTATGC c.971_972insTCCTATGC (p.Gln324HisfsTer?) | |
| 11 | g.66866281T>A | CA381499579 | PC | c.1091A>T (p.Gln364Leu) n.290-16216A>T c.971A>T (p.Gln324Leu) | |
| 11 | g.66866281T>C | CA381499580 | PC | c.1091A>G (p.Gln364Arg) n.290-16216A>G c.971A>G (p.Gln324Arg) | dbSNP gnomAD v4 |
| 11 | g.66866281T>G | CA381499581 | PC | c.1091A>C (p.Gln364Pro) n.290-16216A>C c.971A>C (p.Gln324Pro) | |
| 11 | g.66866281T= | CA1979893369 | PC | c.1091A= (p.Gln364=) n.290-16216A= c.971A= (p.Gln324=) | |
| 11 | g.66866282G>A | CA381499583 | PC | c.1090C>T (p.Gln364Ter) n.290-16217C>T c.970C>T (p.Gln324Ter) | |
| 11 | g.66866282G>C | CA381499584 | PC | c.1090C>G (p.Gln364Glu) n.290-16217C>G c.970C>G (p.Gln324Glu) | |
| 11 | g.66866282G>T | CA381499582 | PC | c.1090C>A (p.Gln364Lys) n.290-16217C>A c.970C>A (p.Gln324Lys) | |
| 11 | g.66866283C>A | CA475375763 | PC | c.1089G>T (p.Arg363=) n.290-16218G>T c.969G>T (p.Arg323=) | dbSNP |
| 11 | g.66866283C>G | CA475375764 | PC | c.1089G>C (p.Arg363=) n.290-16218G>C c.969G>C (p.Arg323=) | |
| 11 | g.66866283C>T | CA475375765 | PC | c.1089G>A (p.Arg363=) n.290-16218G>A c.969G>A (p.Arg323=) | ClinVar |
| 11 | g.66866284C>A | CA381499586 | PC | c.1088G>T (p.Arg363Leu) n.290-16219G>T c.968G>T (p.Arg323Leu) | |
| 11 | g.66866284C= | CA1979893374 | PC | c.1088G= (p.Arg363=) n.290-16219G= c.968G= (p.Arg323=) | |
| 11 | g.66866284C>G | CA381499585 | PC | c.1088G>C (p.Arg363Pro) n.290-16219G>C c.968G>C (p.Arg323Pro) | |
| 11 | g.66866284C>T | CA6131987 | PC | c.1088G>A (p.Arg363Gln) n.290-16219G>A c.968G>A (p.Arg323Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866285G>A | CA6131988 | PC | c.1087C>T (p.Arg363Trp) n.290-16220C>T c.967C>T (p.Arg323Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866285G>C | CA6131989 | PC | c.1087C>G (p.Arg363Gly) n.290-16220C>G c.967C>G (p.Arg323Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866285G= | CA1979893387 | PC | c.1087C= (p.Arg363=) n.290-16220C= c.967C= (p.Arg323=) | |
| 11 | g.66866285G>T | CA475375766 | PC | c.1087C>A (p.Arg363=) n.290-16220C>A c.967C>A (p.Arg323=) | |
| 11 | g.66866286C>A | CA475375767 | PC | c.1086G>T (p.Leu362=) n.290-16221G>T c.966G>T (p.Leu322=) | |
| 11 | g.66866286C>G | CA475375768 | PC | c.1086G>C (p.Leu362=) n.290-16221G>C c.966G>C (p.Leu322=) | |
| 11 | g.66866286C>T | CA475375769 | PC | c.1086G>A (p.Leu362=) n.290-16221G>A c.966G>A (p.Leu322=) | |
| 11 | g.66866287A>C | CA381499587 | PC | c.1085T>G (p.Leu362Arg) n.290-16222T>G c.965T>G (p.Leu322Arg) | |
| 11 | g.66866287A>G | CA381499589 | PC | c.1085T>C (p.Leu362Pro) n.290-16222T>C c.965T>C (p.Leu322Pro) | |
| 11 | g.66866287A>T | CA381499588 | PC | c.1085T>A (p.Leu362Gln) n.290-16222T>A c.965T>A (p.Leu322Gln) | |
| 11 | g.66866288G>A | CA475375770 | PC | c.1084C>T (p.Leu362=) n.290-16223C>T c.964C>T (p.Leu322=) | |
| 11 | g.66866288G>C | CA381499590 | PC | c.1084C>G (p.Leu362Val) n.290-16223C>G c.964C>G (p.Leu322Val) | |
| 11 | g.66866288G>T | CA381499591 | PC | c.1084C>A (p.Leu362Met) n.290-16223C>A c.964C>A (p.Leu322Met) | |
| 11 | g.66866289del | CA2573147589 | PC | c.1084del (p.Leu362CysfsTer?) n.290-16223del c.964del (p.Leu322CysfsTer?) | ClinVar dbSNP |
| 11 | g.66866289G>A | CA475375771 | PC | c.1083C>T (p.Gly361=) n.290-16224C>T c.963C>T (p.Gly321=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66866289G>C | CA475375772 | PC | c.1083C>G (p.Gly361=) n.290-16224C>G c.963C>G (p.Gly321=) | |
| 11 | g.66866289G= | CA1979893397 | PC | c.1083C= (p.Gly361=) n.290-16224C= c.963C= (p.Gly321=) | |
| 11 | g.66866289G>T | CA475375773 | PC | c.1083C>A (p.Gly361=) n.290-16224C>A c.963C>A (p.Gly321=) | gnomAD v4 |
| 11 | g.66866290C>A | CA6131990 | PC | c.1082G>T (p.Gly361Val) n.290-16225G>T c.962G>T (p.Gly321Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.66866290C= | CA1979893402 | PC | c.1082G= (p.Gly361=) n.290-16225G= c.962G= (p.Gly321=) | |
| 11 | g.66866290C>G | CA381499592 | PC | c.1082G>C (p.Gly361Ala) n.290-16225G>C c.962G>C (p.Gly321Ala) | |
| 11 | g.66866290C>T | CA381499593 | PC | c.1082G>A (p.Gly361Asp) n.290-16225G>A c.962G>A (p.Gly321Asp) | |
| 11 | g.66866291C>A | CA381499594 | PC | c.1081G>T (p.Gly361Cys) n.290-16226G>T c.961G>T (p.Gly321Cys) | |
| 11 | g.66866291C>G | CA381499595 | PC | c.1081G>C (p.Gly361Arg) n.290-16226G>C c.961G>C (p.Gly321Arg) | |
| 11 | g.66866291C>T | CA381499596 | PC | c.1081G>A (p.Gly361Ser) n.290-16226G>A c.961G>A (p.Gly321Ser) | gnomAD v4 |