WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359459_19359504dup | CA2693251319 | PDHA1 | c.1030-30_1045dup c.*701-30_*716dup c.1093-30_1108dup c.1123-30_1138dup n.804-30_819dup c.*341-30_*356dup c.*464-30_*479dup c.1009-30_1024dup c.166-30_181dup n.448-30_463dup c.916-30_931dup c.1144-30_1159dup c.1051-30_1066dup | gnomAD v4 |
| X | g.19359467_19359537dup | CA913191132 | PDHA1 | c.1030-22_1078dup c.*701-22_*749dup c.1093-22_1141dup c.1123-22_1171dup n.804-22_852dup c.*341-22_*389dup c.*464-22_*512dup c.1009-22_1057dup c.166-22_214dup n.448-22_496dup c.916-22_964dup c.1144-22_1192dup c.1051-22_1099dup | ClinVar dbSNP |
| X | g.19359473_19359493dup | CA2693251333 | PDHA1 | c.1030-16_1034dup c.*701-16_*705dup c.1093-16_1097dup c.1123-16_1127dup n.804-16_808dup c.*341-16_*345dup c.*464-16_*468dup c.1009-16_1013dup c.166-16_170dup n.448-16_452dup c.916-16_920dup c.1144-16_1148dup c.1051-16_1055dup | gnomAD v4 |
| X | g.19359473_19359490del | CA2573158425 | PDHA1 | c.1030-16_1031del c.*701-16_*702del c.1093-16_1094del c.1123-16_1124del n.804-16_805del c.*341-16_*342del c.*464-16_*465del c.1009-16_1010del c.166-16_167del n.448-16_449del c.916-16_917del c.1144-16_1145del c.1051-16_1052del | ClinVar dbSNP |
| X | g.19359474_19359499dup | CA2693251336 | PDHA1 | c.1030-15_1040dup c.*701-15_*711dup c.1093-15_1103dup c.1123-15_1133dup n.804-15_814dup c.*341-15_*351dup c.*464-15_*474dup c.1009-15_1019dup c.166-15_176dup n.448-15_458dup c.916-15_926dup c.1144-15_1154dup c.1051-15_1061dup | gnomAD v4 |
| X | g.19359483_19359497dup | CA327031092 | PDHA1 | c.1030-6_1038dup c.*701-6_*709dup c.1093-6_1101dup c.1123-6_1131dup n.804-6_812dup c.*341-6_*349dup c.*464-6_*472dup c.1009-6_1017dup c.166-6_174dup n.448-6_456dup c.916-6_924dup c.1144-6_1152dup c.1051-6_1059dup | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359491_19359514del | CA2580100433 | PDHA1 | c.1032_1055del c.*703_*726del c.1095_1118del c.1125_1148del n.806_829del c.*343_*366del c.*466_*489del c.1011_1034del c.168_191del n.450_473del c.918_941del c.1146_1169del c.1053_1076del | ClinVar |
| X | g.19359490A>C | CA412396350 | PDHA1 | c.1031A>C (p.Glu344Ala) c.*702A>C (n.*702A>C) c.1094A>C (p.Glu365Ala) c.1124A>C (p.Glu375Ala) n.805A>C c.*342A>C (n.*342A>C) c.*465A>C (n.*465A>C) c.1010A>C (p.Glu337Ala) c.167A>C (p.Glu56Ala) n.449A>C c.917A>C (p.Glu306Ala) c.1145A>C (p.Glu382Ala) c.1052A>C (p.Glu351Ala) | ClinVar |
| X | g.19359490A>G | CA412396351 | PDHA1 | c.1031A>G (p.Glu344Gly) c.*702A>G (n.*702A>G) c.1094A>G (p.Glu365Gly) c.1124A>G (p.Glu375Gly) n.805A>G c.*342A>G (n.*342A>G) c.*465A>G (n.*465A>G) c.1010A>G (p.Glu337Gly) c.167A>G (p.Glu56Gly) n.449A>G c.917A>G (p.Glu306Gly) c.1145A>G (p.Glu382Gly) c.1052A>G (p.Glu351Gly) | |
| X | g.19359490A>T | CA412396353 | PDHA1 | c.1031A>T (p.Glu344Val) c.*702A>T (n.*702A>T) c.1094A>T (p.Glu365Val) c.1124A>T (p.Glu375Val) n.805A>T c.*342A>T (n.*342A>T) c.*465A>T (n.*465A>T) c.1010A>T (p.Glu337Val) c.167A>T (p.Glu56Val) n.449A>T c.917A>T (p.Glu306Val) c.1145A>T (p.Glu382Val) c.1052A>T (p.Glu351Val) | |
| X | g.19359491A>C | CA412396355 | PDHA1 | c.1032A>C (p.Glu344Asp) c.*703A>C (n.*703A>C) c.1095A>C (p.Glu365Asp) c.1125A>C (p.Glu375Asp) n.806A>C c.*343A>C (n.*343A>C) c.*466A>C (n.*466A>C) c.1011A>C (p.Glu337Asp) c.168A>C (p.Glu56Asp) n.450A>C c.918A>C (p.Glu306Asp) c.1146A>C (p.Glu382Asp) c.1053A>C (p.Glu351Asp) | gnomAD v4 |
| X | g.19359491A>G | CA515486403 | PDHA1 | c.1032A>G (p.Glu344=) c.*703A>G (n.*703A>G) c.1095A>G (p.Glu365=) c.1125A>G (p.Glu375=) n.806A>G c.*343A>G (n.*343A>G) c.*466A>G (n.*466A>G) c.1011A>G (p.Glu337=) c.168A>G (p.Glu56=) n.450A>G c.918A>G (p.Glu306=) c.1146A>G (p.Glu382=) c.1053A>G (p.Glu351=) | |
| X | g.19359491A>T | CA412396357 | PDHA1 | c.1032A>T (p.Glu344Asp) c.*703A>T (n.*703A>T) c.1095A>T (p.Glu365Asp) c.1125A>T (p.Glu375Asp) n.806A>T c.*343A>T (n.*343A>T) c.*466A>T (n.*466A>T) c.1011A>T (p.Glu337Asp) c.168A>T (p.Glu56Asp) n.450A>T c.918A>T (p.Glu306Asp) c.1146A>T (p.Glu382Asp) c.1053A>T (p.Glu351Asp) | |
| X | g.19359491_19359493dup | CA2693251341 | PDHA1 | c.1032_1034dup (p.Ile345_Asp346insIle) c.*703_*705dup (n.*703_*705dup) c.1095_1097dup (p.Ile366_Asp367insIle) c.1125_1127dup (p.Ile376_Asp377insIle) n.806_808dup c.*343_*345dup (n.*343_*345dup) c.*466_*468dup (n.*466_*468dup) c.1011_1013dup (p.Ile338_Asp339insIle) c.168_170dup (p.Ile57_Asp58insIle) n.450_452dup c.918_920dup (p.Ile307_Asp308insIle) c.1146_1148dup (p.Ile383_Asp384insIle) c.1053_1055dup (p.Ile352_Asp353insIle) | gnomAD v4 |
| X | g.19359492A>C | CA412396359 | PDHA1 | c.1033A>C (p.Ile345Leu) c.*704A>C (n.*704A>C) c.1096A>C (p.Ile366Leu) c.1126A>C (p.Ile376Leu) n.807A>C c.*344A>C (n.*344A>C) c.*467A>C (n.*467A>C) c.1012A>C (p.Ile338Leu) c.169A>C (p.Ile57Leu) n.451A>C c.919A>C (p.Ile307Leu) c.1147A>C (p.Ile383Leu) c.1054A>C (p.Ile352Leu) | |
| X | g.19359492A>G | CA412396361 | PDHA1 | c.1033A>G (p.Ile345Val) c.*704A>G (n.*704A>G) c.1096A>G (p.Ile366Val) c.1126A>G (p.Ile376Val) n.807A>G c.*344A>G (n.*344A>G) c.*467A>G (n.*467A>G) c.1012A>G (p.Ile338Val) c.169A>G (p.Ile57Val) n.451A>G c.919A>G (p.Ile307Val) c.1147A>G (p.Ile383Val) c.1054A>G (p.Ile352Val) | gnomAD v4 |
| X | g.19359492A>T | CA412396363 | PDHA1 | c.1033A>T (p.Ile345Phe) c.*704A>T (n.*704A>T) c.1096A>T (p.Ile366Phe) c.1126A>T (p.Ile376Phe) n.807A>T c.*344A>T (n.*344A>T) c.*467A>T (n.*467A>T) c.1012A>T (p.Ile338Phe) c.169A>T (p.Ile57Phe) n.451A>T c.919A>T (p.Ile307Phe) c.1147A>T (p.Ile383Phe) c.1054A>T (p.Ile352Phe) | |
| X | g.19359493T>A | CA412396369 | PDHA1 | c.1034T>A (p.Ile345Asn) c.*705T>A (n.*705T>A) c.1097T>A (p.Ile366Asn) c.1127T>A (p.Ile376Asn) n.808T>A c.*345T>A (n.*345T>A) c.*468T>A (n.*468T>A) c.1013T>A (p.Ile338Asn) c.170T>A (p.Ile57Asn) n.452T>A c.920T>A (p.Ile307Asn) c.1148T>A (p.Ile383Asn) c.1055T>A (p.Ile352Asn) | gnomAD v4 |
| X | g.19359493T>C | CA412396367 | PDHA1 | c.1034T>C (p.Ile345Thr) c.*705T>C (n.*705T>C) c.1097T>C (p.Ile366Thr) c.1127T>C (p.Ile376Thr) n.808T>C c.*345T>C (n.*345T>C) c.*468T>C (n.*468T>C) c.1013T>C (p.Ile338Thr) c.170T>C (p.Ile57Thr) n.452T>C c.920T>C (p.Ile307Thr) c.1148T>C (p.Ile383Thr) c.1055T>C (p.Ile352Thr) | gnomAD v4 |
| X | g.19359493T>G | CA412396366 | PDHA1 | c.1034T>G (p.Ile345Ser) c.*705T>G (n.*705T>G) c.1097T>G (p.Ile366Ser) c.1127T>G (p.Ile376Ser) n.808T>G c.*345T>G (n.*345T>G) c.*468T>G (n.*468T>G) c.1013T>G (p.Ile338Ser) c.170T>G (p.Ile57Ser) n.452T>G c.920T>G (p.Ile307Ser) c.1148T>G (p.Ile383Ser) c.1055T>G (p.Ile352Ser) | |
| X | g.19359493T= | CA2418225559 | PDHA1 | c.1034T= (p.Ile345=) c.*705T= (n.*705T=) c.1097T= (p.Ile366=) c.1127T= (p.Ile376=) n.808T= c.*345T= (n.*345T=) c.*468T= (n.*468T=) c.1013T= (p.Ile338=) c.170T= (p.Ile57=) n.452T= c.920T= (p.Ile307=) c.1148T= (p.Ile383=) c.1055T= (p.Ile352=) | |
| X | g.19359494T>A | CA515486404 | PDHA1 | c.1035T>A (p.Ile345=) c.*706T>A (n.*706T>A) c.1098T>A (p.Ile366=) c.1128T>A (p.Ile376=) n.809T>A c.*346T>A (n.*346T>A) c.*469T>A (n.*469T>A) c.1014T>A (p.Ile338=) c.171T>A (p.Ile57=) n.453T>A c.921T>A (p.Ile307=) c.1149T>A (p.Ile383=) c.1056T>A (p.Ile352=) | |
| X | g.19359494T>C | CA515486405 | PDHA1 | c.1035T>C (p.Ile345=) c.*706T>C (n.*706T>C) c.1098T>C (p.Ile366=) c.1128T>C (p.Ile376=) n.809T>C c.*346T>C (n.*346T>C) c.*469T>C (n.*469T>C) c.1014T>C (p.Ile338=) c.171T>C (p.Ile57=) n.453T>C c.921T>C (p.Ile307=) c.1149T>C (p.Ile383=) c.1056T>C (p.Ile352=) | dbSNP |
| X | g.19359494T>G | CA412396372 | PDHA1 | c.1035T>G (p.Ile345Met) c.*706T>G (n.*706T>G) c.1098T>G (p.Ile366Met) c.1128T>G (p.Ile376Met) n.809T>G c.*346T>G (n.*346T>G) c.*469T>G (n.*469T>G) c.1014T>G (p.Ile338Met) c.171T>G (p.Ile57Met) n.453T>G c.921T>G (p.Ile307Met) c.1149T>G (p.Ile383Met) c.1056T>G (p.Ile352Met) | |
| X | g.19359494T= | CA2418225560 | PDHA1 | c.1035T= (p.Ile345=) c.*706T= (n.*706T=) c.1098T= (p.Ile366=) c.1128T= (p.Ile376=) n.809T= c.*346T= (n.*346T=) c.*469T= (n.*469T=) c.1014T= (p.Ile338=) c.171T= (p.Ile57=) n.453T= c.921T= (p.Ile307=) c.1149T= (p.Ile383=) c.1056T= (p.Ile352=) | |
| X | g.19359494_19359514dup | CA1139667330 | PDHA1 | c.1035_1055dup (p.Lys351_Glu352insAspAspValGluValArgLys) c.*706_*726dup (n.*706_*726dup) c.1098_1118dup (p.Lys372_Glu373insAspAspValGluValArgLys) c.1128_1148dup (p.Lys382_Glu383insAspAspValGluValArgLys) n.809_829dup c.*346_*366dup (n.*346_*366dup) c.*469_*489dup (n.*469_*489dup) c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) c.171_191dup (p.Lys63_Glu64insAspAspValGluValArgLys) n.453_473dup c.921_941dup (p.Lys313_Glu314insAspAspValGluValArgLys) c.1149_1169dup (p.Lys389_Glu390insAspAspValGluValArgLys) c.1056_1076dup (p.Lys358_Glu359insAspAspValGluValArgLys) | ClinVar dbSNP |
| X | g.19359495G>A | CA412396374 | PDHA1 | c.1036G>A (p.Asp346Asn) c.*707G>A (n.*707G>A) c.1099G>A (p.Asp367Asn) c.1129G>A (p.Asp377Asn) n.810G>A c.*347G>A (n.*347G>A) c.*470G>A (n.*470G>A) c.1015G>A (p.Asp339Asn) c.172G>A (p.Asp58Asn) n.454G>A c.922G>A (p.Asp308Asn) c.1150G>A (p.Asp384Asn) c.1057G>A (p.Asp353Asn) | gnomAD v4 |
| X | g.19359495G>C | CA412396376 | PDHA1 | c.1036G>C (p.Asp346His) c.*707G>C (n.*707G>C) c.1099G>C (p.Asp367His) c.1129G>C (p.Asp377His) n.810G>C c.*347G>C (n.*347G>C) c.*470G>C (n.*470G>C) c.1015G>C (p.Asp339His) c.172G>C (p.Asp58His) n.454G>C c.922G>C (p.Asp308His) c.1150G>C (p.Asp384His) c.1057G>C (p.Asp353His) | |
| X | g.19359495G>T | CA412396377 | PDHA1 | c.1036G>T (p.Asp346Tyr) c.*707G>T (n.*707G>T) c.1099G>T (p.Asp367Tyr) c.1129G>T (p.Asp377Tyr) n.810G>T c.*347G>T (n.*347G>T) c.*470G>T (n.*470G>T) c.1015G>T (p.Asp339Tyr) c.172G>T (p.Asp58Tyr) n.454G>T c.922G>T (p.Asp308Tyr) c.1150G>T (p.Asp384Tyr) c.1057G>T (p.Asp353Tyr) | |
| X | g.19359496A>C | CA412396380 | PDHA1 | c.1037A>C (p.Asp346Ala) c.*708A>C (n.*708A>C) c.1100A>C (p.Asp367Ala) c.1130A>C (p.Asp377Ala) n.811A>C c.*348A>C (n.*348A>C) c.*471A>C (n.*471A>C) c.1016A>C (p.Asp339Ala) c.173A>C (p.Asp58Ala) n.455A>C c.923A>C (p.Asp308Ala) c.1151A>C (p.Asp384Ala) c.1058A>C (p.Asp353Ala) | |
| X | g.19359496A>G | CA412396382 | PDHA1 | c.1037A>G (p.Asp346Gly) c.*708A>G (n.*708A>G) c.1100A>G (p.Asp367Gly) c.1130A>G (p.Asp377Gly) n.811A>G c.*348A>G (n.*348A>G) c.*471A>G (n.*471A>G) c.1016A>G (p.Asp339Gly) c.173A>G (p.Asp58Gly) n.455A>G c.923A>G (p.Asp308Gly) c.1151A>G (p.Asp384Gly) c.1058A>G (p.Asp353Gly) | |
| X | g.19359496A>T | CA412396383 | PDHA1 | c.1037A>T (p.Asp346Val) c.*708A>T (n.*708A>T) c.1100A>T (p.Asp367Val) c.1130A>T (p.Asp377Val) n.811A>T c.*348A>T (n.*348A>T) c.*471A>T (n.*471A>T) c.1016A>T (p.Asp339Val) c.173A>T (p.Asp58Val) n.455A>T c.923A>T (p.Asp308Val) c.1151A>T (p.Asp384Val) c.1058A>T (p.Asp353Val) | |
| X | g.19359497T>A | CA412396386 | PDHA1 | c.1038T>A (p.Asp346Glu) c.*709T>A (n.*709T>A) c.1101T>A (p.Asp367Glu) c.1131T>A (p.Asp377Glu) n.812T>A c.*349T>A (n.*349T>A) c.*472T>A (n.*472T>A) c.1017T>A (p.Asp339Glu) c.174T>A (p.Asp58Glu) n.456T>A c.924T>A (p.Asp308Glu) c.1152T>A (p.Asp384Glu) c.1059T>A (p.Asp353Glu) | |
| X | g.19359497T>C | CA515486406 | PDHA1 | c.1038T>C (p.Asp346=) c.*709T>C (n.*709T>C) c.1101T>C (p.Asp367=) c.1131T>C (p.Asp377=) n.812T>C c.*349T>C (n.*349T>C) c.*472T>C (n.*472T>C) c.1017T>C (p.Asp339=) c.174T>C (p.Asp58=) n.456T>C c.924T>C (p.Asp308=) c.1152T>C (p.Asp384=) c.1059T>C (p.Asp353=) | |
| X | g.19359497T>G | CA412396388 | PDHA1 | c.1038T>G (p.Asp346Glu) c.*709T>G (n.*709T>G) c.1101T>G (p.Asp367Glu) c.1131T>G (p.Asp377Glu) n.812T>G c.*349T>G (n.*349T>G) c.*472T>G (n.*472T>G) c.1017T>G (p.Asp339Glu) c.174T>G (p.Asp58Glu) n.456T>G c.924T>G (p.Asp308Glu) c.1152T>G (p.Asp384Glu) c.1059T>G (p.Asp353Glu) | |
| X | g.19359498G>A | CA412396390 | PDHA1 | c.1039G>A (p.Val347Met) c.*710G>A (n.*710G>A) c.1102G>A (p.Val368Met) c.1132G>A (p.Val378Met) n.813G>A c.*350G>A (n.*350G>A) c.*473G>A (n.*473G>A) c.1018G>A (p.Val340Met) c.175G>A (p.Val59Met) n.457G>A c.925G>A (p.Val309Met) c.1153G>A (p.Val385Met) c.1060G>A (p.Val354Met) | ClinVar dbSNP |
| X | g.19359498G>C | CA412396392 | PDHA1 | c.1039G>C (p.Val347Leu) c.*710G>C (n.*710G>C) c.1102G>C (p.Val368Leu) c.1132G>C (p.Val378Leu) n.813G>C c.*350G>C (n.*350G>C) c.*473G>C (n.*473G>C) c.1018G>C (p.Val340Leu) c.175G>C (p.Val59Leu) n.457G>C c.925G>C (p.Val309Leu) c.1153G>C (p.Val385Leu) c.1060G>C (p.Val354Leu) | |
| X | g.19359498G= | CA2418225561 | PDHA1 | c.1039G= (p.Val347=) c.*710G= (n.*710G=) c.1102G= (p.Val368=) c.1132G= (p.Val378=) n.813G= c.*350G= (n.*350G=) c.*473G= (n.*473G=) c.1018G= (p.Val340=) c.175G= (p.Val59=) n.457G= c.925G= (p.Val309=) c.1153G= (p.Val385=) c.1060G= (p.Val354=) | |
| X | g.19359498G>T | CA412396393 | PDHA1 | c.1039G>T (p.Val347Leu) c.*710G>T (n.*710G>T) c.1102G>T (p.Val368Leu) c.1132G>T (p.Val378Leu) n.813G>T c.*350G>T (n.*350G>T) c.*473G>T (n.*473G>T) c.1018G>T (p.Val340Leu) c.175G>T (p.Val59Leu) n.457G>T c.925G>T (p.Val309Leu) c.1153G>T (p.Val385Leu) c.1060G>T (p.Val354Leu) | |
| X | g.19359499T>A | CA412396400 | PDHA1 | c.1040T>A (p.Val347Glu) c.*711T>A (n.*711T>A) c.1103T>A (p.Val368Glu) c.1133T>A (p.Val378Glu) n.814T>A c.*351T>A (n.*351T>A) c.*474T>A (n.*474T>A) c.1019T>A (p.Val340Glu) c.176T>A (p.Val59Glu) n.458T>A c.926T>A (p.Val309Glu) c.1154T>A (p.Val385Glu) c.1061T>A (p.Val354Glu) | |
| X | g.19359499T>C | CA412396398 | PDHA1 | c.1040T>C (p.Val347Ala) c.*711T>C (n.*711T>C) c.1103T>C (p.Val368Ala) c.1133T>C (p.Val378Ala) n.814T>C c.*351T>C (n.*351T>C) c.*474T>C (n.*474T>C) c.1019T>C (p.Val340Ala) c.176T>C (p.Val59Ala) n.458T>C c.926T>C (p.Val309Ala) c.1154T>C (p.Val385Ala) c.1061T>C (p.Val354Ala) | |
| X | g.19359499T>G | CA412396396 | PDHA1 | c.1040T>G (p.Val347Gly) c.*711T>G (n.*711T>G) c.1103T>G (p.Val368Gly) c.1133T>G (p.Val378Gly) n.814T>G c.*351T>G (n.*351T>G) c.*474T>G (n.*474T>G) c.1019T>G (p.Val340Gly) c.176T>G (p.Val59Gly) n.458T>G c.926T>G (p.Val309Gly) c.1154T>G (p.Val385Gly) c.1061T>G (p.Val354Gly) | |
| X | g.19359499_19359507delinsTGGAAGTGA | CA2418225562 | PDHA1 | c.1040_1048delinsTGGAAGTGA (p.Val347=) c.*711_*719delinsTGGAAGTGA (n.*711_*719delinsTGGAAGTGA) c.1103_1111delinsTGGAAGTGA (p.Val368=) c.1133_1141delinsTGGAAGTGA (p.Val378=) n.814_822delinsTGGAAGTGA c.*351_*359delinsTGGAAGTGA (n.*351_*359delinsTGGAAGTGA) c.*474_*482delinsTGGAAGTGA (n.*474_*482delinsTGGAAGTGA) c.1019_1027delinsTGGAAGTGA (p.Val340=) c.176_184delinsTGGAAGTGA (p.Val59=) n.458_466delinsTGGAAGTGA c.926_934delinsTGGAAGTGA (p.Val309=) c.1154_1162delinsTGGAAGTGA (p.Val385=) c.1061_1069delinsTGGAAGTGA (p.Val354=) | |
| X | g.19359500G>A | CA515486407 | PDHA1 | c.1041G>A (p.Val347=) c.*712G>A (n.*712G>A) c.1104G>A (p.Val368=) c.1134G>A (p.Val378=) n.815G>A c.*352G>A (n.*352G>A) c.*475G>A (n.*475G>A) c.1020G>A (p.Val340=) c.177G>A (p.Val59=) n.459G>A c.927G>A (p.Val309=) c.1155G>A (p.Val385=) c.1062G>A (p.Val354=) | |
| X | g.19359500G>C | CA515486408 | PDHA1 | c.1041G>C (p.Val347=) c.*712G>C (n.*712G>C) c.1104G>C (p.Val368=) c.1134G>C (p.Val378=) n.815G>C c.*352G>C (n.*352G>C) c.*475G>C (n.*475G>C) c.1020G>C (p.Val340=) c.177G>C (p.Val59=) n.459G>C c.927G>C (p.Val309=) c.1155G>C (p.Val385=) c.1062G>C (p.Val354=) | |
| X | g.19359500G>T | CA515486409 | PDHA1 | c.1041G>T (p.Val347=) c.*712G>T (n.*712G>T) c.1104G>T (p.Val368=) c.1134G>T (p.Val378=) n.815G>T c.*352G>T (n.*352G>T) c.*475G>T (n.*475G>T) c.1020G>T (p.Val340=) c.177G>T (p.Val59=) n.459G>T c.927G>T (p.Val309=) c.1155G>T (p.Val385=) c.1062G>T (p.Val354=) | COSMIC COSMIC COSMIC |
| X | g.19359501dup | CA2695231667 | PDHA1 | c.1042dup (p.Glu348GlyfsTer7) c.*713dup (n.*713dup) c.1105dup (p.Glu369GlyfsTer7) c.1135dup (p.Glu379GlyfsTer7) n.816dup c.*353dup (n.*353dup) c.*476dup (n.*476dup) c.1021dup (p.Glu341GlyfsTer7) c.178dup (p.Glu60GlyfsTer7) n.460dup c.928dup (p.Glu310GlyfsTer7) c.1156dup (p.Glu386GlyfsTer7) c.1063dup (p.Glu355GlyfsTer7) | |
| X | g.19359505_19359512dup | CA2695231666 | PDHA1 | c.1046_1053dup (p.Glu352Ter) c.*717_*724dup (n.*717_*724dup) c.1109_1116dup (p.Glu373Ter) c.1139_1146dup (p.Glu383Ter) n.820_827dup c.*357_*364dup (n.*357_*364dup) c.*480_*487dup (n.*480_*487dup) c.1025_1032dup (p.Glu345Ter) c.182_189dup (p.Glu64Ter) n.464_471dup c.932_939dup (p.Glu314Ter) c.1160_1167dup (p.Glu390Ter) c.1067_1074dup (p.Glu359Ter) | |
| X | g.19359505_19359512del | CA1139667331 | PDHA1 | c.1046_1053del (p.Val349GlyfsTer3) c.*717_*724del (n.*717_*724del) c.1109_1116del (p.Val370GlyfsTer3) c.1139_1146del (p.Val380GlyfsTer3) n.820_827del c.*357_*364del (n.*357_*364del) c.*480_*487del (n.*480_*487del) c.1025_1032del (p.Val342GlyfsTer3) c.182_189del (p.Val61GlyfsTer3) n.464_471del c.932_939del (p.Val311GlyfsTer3) c.1160_1167del (p.Val387GlyfsTer3) c.1067_1074del (p.Val356GlyfsTer3) | ClinVar dbSNP |
| X | g.19359501G>A | CA10363203 | PDHA1 | c.1042G>A (p.Glu348Lys) c.*713G>A (n.*713G>A) c.1105G>A (p.Glu369Lys) c.1135G>A (p.Glu379Lys) n.816G>A c.*353G>A (n.*353G>A) c.*476G>A (n.*476G>A) c.1021G>A (p.Glu341Lys) c.178G>A (p.Glu60Lys) n.460G>A c.928G>A (p.Glu310Lys) c.1156G>A (p.Glu386Lys) c.1063G>A (p.Glu355Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |