| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358965_19359039dup | CA640522581 | PDHA1 | c.970_1029+15dup c.*641_*700+15dup c.1033_1092+15dup c.1063_1122+15dup n.744_803+15dup c.*281_*340+15dup c.*404_*463+15dup c.949_1008+15dup c.106_165+15dup n.388_447+15dup c.856_915+15dup c.1084_1143+15dup c.991_1050+15dup | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19358976_19359057dup | CA1131434219 | PDHA1 | c.981_1029+33dup c.*652_*700+33dup c.1044_1092+33dup c.1074_1122+33dup n.755_803+33dup c.*292_*340+33dup c.*415_*463+33dup c.960_1008+33dup c.117_165+33dup n.399_447+33dup c.867_915+33dup c.1095_1143+33dup c.1002_1050+33dup | gnomAD v3 gnomAD v4 |
| X | g.19358989_19359051dup | CA2693251100 | PDHA1 | c.994_1029+27dup c.*665_*700+27dup c.1057_1092+27dup c.1087_1122+27dup n.768_803+27dup c.*305_*340+27dup c.*428_*463+27dup c.973_1008+27dup c.130_165+27dup n.412_447+27dup c.880_915+27dup c.1108_1143+27dup c.1015_1050+27dup | gnomAD v4 |
| X | g.19358997_19359030dup | CA2573055207 | PDHA1 | c.1002_1029+6dup c.*673_*700+6dup c.1065_1092+6dup c.1095_1122+6dup n.776_803+6dup c.*313_*340+6dup c.*436_*463+6dup c.981_1008+6dup c.138_165+6dup n.420_447+6dup c.888_915+6dup c.1116_1143+6dup c.1023_1050+6dup | ClinVar dbSNP |
| X | g.19359007_19359019dup | CA2580100429 | PDHA1 | c.1012_1024dup (p.Leu342GlnfsTer9) c.*683_*695dup (n.*683_*695dup) c.1075_1087dup (p.Leu363GlnfsTer9) c.1105_1117dup (p.Leu373GlnfsTer9) n.786_798dup c.*323_*335dup (n.*323_*335dup) c.*446_*458dup (n.*446_*458dup) c.991_1003dup (p.Leu335GlnfsTer9) c.148_160dup (p.Leu54GlnfsTer9) n.430_442dup n.419_431dup c.898_910dup (p.Leu304GlnfsTer9) c.1126_1138dup (p.Leu380GlnfsTer9) c.1033_1045dup (p.Leu349GlnfsTer9) | ClinVar |
| X | g.19359014_19359044dup | CA1139667329 | PDHA1 | c.1019_1029+20dup c.*690_*700+20dup c.1082_1092+20dup c.1112_1122+20dup n.793_803+20dup c.*330_*340+20dup c.*453_*463+20dup c.998_1008+20dup c.155_165+20dup n.437_447+20dup c.905_915+20dup c.1133_1143+20dup c.1040_1050+20dup | ClinVar dbSNP |
| X | g.19359016_19359018del | CA2695231662 | PDHA1 | c.1021_1023del (p.Glu341del) c.*692_*694del (n.*692_*694del) c.1084_1086del (p.Glu362del) c.1114_1116del (p.Glu372del) n.795_797del c.*332_*334del (n.*332_*334del) c.*455_*457del (n.*455_*457del) c.1000_1002del (p.Glu334del) c.157_159del (p.Glu53del) n.439_441del n.428_430del c.907_909del (p.Glu303del) c.1135_1137del (p.Glu379del) c.1042_1044del (p.Glu348del) | |
| X | g.19359015_19359018dup | CA515486389 | PDHA1 | c.1020_1023dup (p.Leu342ArgfsTer6) c.*691_*694dup (n.*691_*694dup) c.1083_1086dup (p.Leu363ArgfsTer6) c.1113_1116dup (p.Leu373ArgfsTer6) n.794_797dup c.*331_*334dup (n.*331_*334dup) c.*454_*457dup (n.*454_*457dup) c.999_1002dup (p.Leu335ArgfsTer6) c.156_159dup (p.Leu54ArgfsTer6) n.438_441dup n.427_430dup c.906_909dup (p.Leu304ArgfsTer6) c.1134_1137dup (p.Leu380ArgfsTer6) c.1041_1044dup (p.Leu349ArgfsTer6) | |
| X | g.19359015A= | CA2418225257 | PDHA1 | c.1020A= (p.Glu340=) c.*691A= (n.*691A=) c.1083A= (p.Glu361=) c.1113A= (p.Glu371=) n.794A= c.*331A= (n.*331A=) c.*454A= (n.*454A=) c.999A= (p.Glu333=) c.156A= (p.Glu52=) n.438A= n.427A= c.906A= (p.Glu302=) c.1134A= (p.Glu378=) c.1041A= (p.Glu347=) | |
| X | g.19359015A>C | CA10363173 | PDHA1 | c.1020A>C (p.Glu340Asp) c.*691A>C (n.*691A>C) c.1083A>C (p.Glu361Asp) c.1113A>C (p.Glu371Asp) n.794A>C c.*331A>C (n.*331A>C) c.*454A>C (n.*454A>C) c.999A>C (p.Glu333Asp) c.156A>C (p.Glu52Asp) n.438A>C n.427A>C c.906A>C (p.Glu302Asp) c.1134A>C (p.Glu378Asp) c.1041A>C (p.Glu347Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359015A>G | CA515486390 | PDHA1 | c.1020A>G (p.Glu340=) c.*691A>G (n.*691A>G) c.1083A>G (p.Glu361=) c.1113A>G (p.Glu371=) n.794A>G c.*331A>G (n.*331A>G) c.*454A>G (n.*454A>G) c.999A>G (p.Glu333=) c.156A>G (p.Glu52=) n.438A>G n.427A>G c.906A>G (p.Glu302=) c.1134A>G (p.Glu378=) c.1041A>G (p.Glu347=) | gnomAD v4 |
| X | g.19359015A>T | CA412396284 | PDHA1 | c.1020A>T (p.Glu340Asp) c.*691A>T (n.*691A>T) c.1083A>T (p.Glu361Asp) c.1113A>T (p.Glu371Asp) n.794A>T c.*331A>T (n.*331A>T) c.*454A>T (n.*454A>T) c.999A>T (p.Glu333Asp) c.156A>T (p.Glu52Asp) n.438A>T n.427A>T c.906A>T (p.Glu302Asp) c.1134A>T (p.Glu378Asp) c.1041A>T (p.Glu347Asp) | |
| X | g.19359015_19359034del | CA2695231663 | PDHA1 | c.1020_1029+10del c.*691_*700+10del c.1083_1092+10del c.1113_1122+10del n.794_803+10del c.*331_*340+10del c.*454_*463+10del c.999_1008+10del c.156_165+10del n.438_447+10del c.906_915+10del c.1134_1143+10del c.1041_1050+10del | |
| X | g.19359015_19359038dup | CA2693251102 | PDHA1 | c.1020_1029+14dup c.*691_*700+14dup c.1083_1092+14dup c.1113_1122+14dup n.794_803+14dup c.*331_*340+14dup c.*454_*463+14dup c.999_1008+14dup c.156_165+14dup n.438_447+14dup c.906_915+14dup c.1134_1143+14dup c.1041_1050+14dup | gnomAD v4 |
| X | g.19359016G>A | CA412396285 | PDHA1 | c.1021G>A (p.Glu341Lys) c.*692G>A (n.*692G>A) c.1084G>A (p.Glu362Lys) c.1114G>A (p.Glu372Lys) n.795G>A c.*332G>A (n.*332G>A) c.*455G>A (n.*455G>A) c.1000G>A (p.Glu334Lys) c.157G>A (p.Glu53Lys) n.439G>A n.428G>A c.907G>A (p.Glu303Lys) c.1135G>A (p.Glu379Lys) c.1042G>A (p.Glu348Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359016G>C | CA412396286 | PDHA1 | c.1021G>C (p.Glu341Gln) c.*692G>C (n.*692G>C) c.1084G>C (p.Glu362Gln) c.1114G>C (p.Glu372Gln) n.795G>C c.*332G>C (n.*332G>C) c.*455G>C (n.*455G>C) c.1000G>C (p.Glu334Gln) c.157G>C (p.Glu53Gln) n.439G>C n.428G>C c.907G>C (p.Glu303Gln) c.1135G>C (p.Glu379Gln) c.1042G>C (p.Glu348Gln) | gnomAD v4 |
| X | g.19359016G= | CA2418225258 | PDHA1 | c.1021G= (p.Glu341=) c.*692G= (n.*692G=) c.1084G= (p.Glu362=) c.1114G= (p.Glu372=) n.795G= c.*332G= (n.*332G=) c.*455G= (n.*455G=) c.1000G= (p.Glu334=) c.157G= (p.Glu53=) n.439G= n.428G= c.907G= (p.Glu303=) c.1135G= (p.Glu379=) c.1042G= (p.Glu348=) | |
| X | g.19359016G>T | CA412396287 | PDHA1 | c.1021G>T (p.Glu341Ter) c.*692G>T (n.*692G>T) c.1084G>T (p.Glu362Ter) c.1114G>T (p.Glu372Ter) n.795G>T c.*332G>T (n.*332G>T) c.*455G>T (n.*455G>T) c.1000G>T (p.Glu334Ter) c.157G>T (p.Glu53Ter) n.439G>T n.428G>T c.907G>T (p.Glu303Ter) c.1135G>T (p.Glu379Ter) c.1042G>T (p.Glu348Ter) | |
| X | g.19359017A>C | CA412396288 | PDHA1 | c.1022A>C (p.Glu341Ala) c.*693A>C (n.*693A>C) c.1085A>C (p.Glu362Ala) c.1115A>C (p.Glu372Ala) n.796A>C c.*333A>C (n.*333A>C) c.*456A>C (n.*456A>C) c.1001A>C (p.Glu334Ala) c.158A>C (p.Glu53Ala) n.440A>C n.429A>C c.908A>C (p.Glu303Ala) c.1136A>C (p.Glu379Ala) c.1043A>C (p.Glu348Ala) | |
| X | g.19359017A>G | CA412396289 | PDHA1 | c.1022A>G (p.Glu341Gly) c.*693A>G (n.*693A>G) c.1085A>G (p.Glu362Gly) c.1115A>G (p.Glu372Gly) n.796A>G c.*333A>G (n.*333A>G) c.*456A>G (n.*456A>G) c.1001A>G (p.Glu334Gly) c.158A>G (p.Glu53Gly) n.440A>G n.429A>G c.908A>G (p.Glu303Gly) c.1136A>G (p.Glu379Gly) c.1043A>G (p.Glu348Gly) | |
| X | g.19359017A>T | CA412396290 | PDHA1 | c.1022A>T (p.Glu341Val) c.*693A>T (n.*693A>T) c.1085A>T (p.Glu362Val) c.1115A>T (p.Glu372Val) n.796A>T c.*333A>T (n.*333A>T) c.*456A>T (n.*456A>T) c.1001A>T (p.Glu334Val) c.158A>T (p.Glu53Val) n.440A>T n.429A>T c.908A>T (p.Glu303Val) c.1136A>T (p.Glu379Val) c.1043A>T (p.Glu348Val) | |
| X | g.19359018A>C | CA412396291 | PDHA1 | c.1023A>C (p.Glu341Asp) c.*694A>C (n.*694A>C) c.1086A>C (p.Glu362Asp) c.1116A>C (p.Glu372Asp) n.797A>C c.*334A>C (n.*334A>C) c.*457A>C (n.*457A>C) c.1002A>C (p.Glu334Asp) c.159A>C (p.Glu53Asp) n.441A>C n.430A>C c.909A>C (p.Glu303Asp) c.1137A>C (p.Glu379Asp) c.1044A>C (p.Glu348Asp) | |
| X | g.19359018A>G | CA515486394 | PDHA1 | c.1023A>G (p.Glu341=) c.*694A>G (n.*694A>G) c.1086A>G (p.Glu362=) c.1116A>G (p.Glu372=) n.797A>G c.*334A>G (n.*334A>G) c.*457A>G (n.*457A>G) c.1002A>G (p.Glu334=) c.159A>G (p.Glu53=) n.441A>G n.430A>G c.909A>G (p.Glu303=) c.1137A>G (p.Glu379=) c.1044A>G (p.Glu348=) | gnomAD v4 |
| X | g.19359018A>T | CA412396292 | PDHA1 | c.1023A>T (p.Glu341Asp) c.*694A>T (n.*694A>T) c.1086A>T (p.Glu362Asp) c.1116A>T (p.Glu372Asp) n.797A>T c.*334A>T (n.*334A>T) c.*457A>T (n.*457A>T) c.1002A>T (p.Glu334Asp) c.159A>T (p.Glu53Asp) n.441A>T n.430A>T c.909A>T (p.Glu303Asp) c.1137A>T (p.Glu379Asp) c.1044A>T (p.Glu348Asp) | |
| X | g.19359019C>A | CA412396293 | PDHA1 | c.1024C>A (p.Leu342Ile) c.*695C>A (n.*695C>A) c.1087C>A (p.Leu363Ile) c.1117C>A (p.Leu373Ile) n.798C>A c.*335C>A (n.*335C>A) c.*458C>A (n.*458C>A) c.1003C>A (p.Leu335Ile) c.160C>A (p.Leu54Ile) n.442C>A n.431C>A c.910C>A (p.Leu304Ile) c.1138C>A (p.Leu380Ile) c.1045C>A (p.Leu349Ile) | gnomAD v4 |
| X | g.19359019C= | CA2418225259 | PDHA1 | c.1024C= (p.Leu342=) c.*695C= (n.*695C=) c.1087C= (p.Leu363=) c.1117C= (p.Leu373=) n.798C= c.*335C= (n.*335C=) c.*458C= (n.*458C=) c.1003C= (p.Leu335=) c.160C= (p.Leu54=) n.442C= n.431C= c.910C= (p.Leu304=) c.1138C= (p.Leu380=) c.1045C= (p.Leu349=) | |
| X | g.19359019C>G | CA412396294 | PDHA1 | c.1024C>G (p.Leu342Val) c.*695C>G (n.*695C>G) c.1087C>G (p.Leu363Val) c.1117C>G (p.Leu373Val) n.798C>G c.*335C>G (n.*335C>G) c.*458C>G (n.*458C>G) c.1003C>G (p.Leu335Val) c.160C>G (p.Leu54Val) n.442C>G n.431C>G c.910C>G (p.Leu304Val) c.1138C>G (p.Leu380Val) c.1045C>G (p.Leu349Val) | |
| X | g.19359019C>T | CA515486396 | PDHA1 | c.1024C>T (p.Leu342=) c.*695C>T (n.*695C>T) c.1087C>T (p.Leu363=) c.1117C>T (p.Leu373=) n.798C>T c.*335C>T (n.*335C>T) c.*458C>T (n.*458C>T) c.1003C>T (p.Leu335=) c.160C>T (p.Leu54=) n.442C>T n.431C>T c.910C>T (p.Leu304=) c.1138C>T (p.Leu380=) c.1045C>T (p.Leu349=) | dbSNP gnomAD v4 |
| X | g.19359020T>A | CA412396295 | PDHA1 | c.1025T>A (p.Leu342Gln) c.*696T>A (n.*696T>A) c.1088T>A (p.Leu363Gln) c.1118T>A (p.Leu373Gln) n.799T>A c.*336T>A (n.*336T>A) c.*459T>A (n.*459T>A) c.1004T>A (p.Leu335Gln) c.161T>A (p.Leu54Gln) n.443T>A n.432T>A c.911T>A (p.Leu304Gln) c.1139T>A (p.Leu380Gln) c.1046T>A (p.Leu349Gln) | gnomAD v4 |
| X | g.19359020T>C | CA412396297 | PDHA1 | c.1025T>C (p.Leu342Pro) c.*696T>C (n.*696T>C) c.1088T>C (p.Leu363Pro) c.1118T>C (p.Leu373Pro) n.799T>C c.*336T>C (n.*336T>C) c.*459T>C (n.*459T>C) c.1004T>C (p.Leu335Pro) c.161T>C (p.Leu54Pro) n.443T>C n.432T>C c.911T>C (p.Leu304Pro) c.1139T>C (p.Leu380Pro) c.1046T>C (p.Leu349Pro) | gnomAD v4 |
| X | g.19359020T>G | CA412396296 | PDHA1 | c.1025T>G (p.Leu342Arg) c.*696T>G (n.*696T>G) c.1088T>G (p.Leu363Arg) c.1118T>G (p.Leu373Arg) n.799T>G c.*336T>G (n.*336T>G) c.*459T>G (n.*459T>G) c.1004T>G (p.Leu335Arg) c.161T>G (p.Leu54Arg) n.443T>G n.432T>G c.911T>G (p.Leu304Arg) c.1139T>G (p.Leu380Arg) c.1046T>G (p.Leu349Arg) | |
| X | g.19359021_19359038dup | CA10363174 | PDHA1 | c.1026_1029+14dup c.*697_*700+14dup c.1089_1092+14dup c.1119_1122+14dup n.800_803+14dup c.*337_*340+14dup c.*460_*463+14dup c.1005_1008+14dup c.162_165+14dup n.444_447+14dup c.912_915+14dup c.1140_1143+14dup c.1047_1050+14dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359021_19359042dup | CA2693251103 | PDHA1 | c.1026_1029+18dup c.*697_*700+18dup c.1089_1092+18dup c.1119_1122+18dup n.800_803+18dup c.*337_*340+18dup c.*460_*463+18dup c.1005_1008+18dup c.162_165+18dup n.444_447+18dup c.912_915+18dup c.1140_1143+18dup c.1047_1050+18dup | gnomAD v4 |
| X | g.19359021A>C | CA515486398 | PDHA1 | c.1026A>C (p.Leu342=) c.*697A>C (n.*697A>C) c.1089A>C (p.Leu363=) c.1119A>C (p.Leu373=) n.800A>C c.*337A>C (n.*337A>C) c.*460A>C (n.*460A>C) c.1005A>C (p.Leu335=) c.162A>C (p.Leu54=) n.444A>C n.433A>C c.912A>C (p.Leu304=) c.1140A>C (p.Leu380=) c.1047A>C (p.Leu349=) | |
| X | g.19359021A>G | CA515486399 | PDHA1 | c.1026A>G (p.Leu342=) c.*697A>G (n.*697A>G) c.1089A>G (p.Leu363=) c.1119A>G (p.Leu373=) n.800A>G c.*337A>G (n.*337A>G) c.*460A>G (n.*460A>G) c.1005A>G (p.Leu335=) c.162A>G (p.Leu54=) n.444A>G n.433A>G c.912A>G (p.Leu304=) c.1140A>G (p.Leu380=) c.1047A>G (p.Leu349=) | gnomAD v4 |
| X | g.19359021A>T | CA515486400 | PDHA1 | c.1026A>T (p.Leu342=) c.*697A>T (n.*697A>T) c.1089A>T (p.Leu363=) c.1119A>T (p.Leu373=) n.800A>T c.*337A>T (n.*337A>T) c.*460A>T (n.*460A>T) c.1005A>T (p.Leu335=) c.162A>T (p.Leu54=) n.444A>T n.433A>T c.912A>T (p.Leu304=) c.1140A>T (p.Leu380=) c.1047A>T (p.Leu349=) | |
| X | g.19359022A>C | CA412396298 | PDHA1 | c.1027A>C (p.Lys343Gln) c.*698A>C (n.*698A>C) c.1090A>C (p.Lys364Gln) c.1120A>C (p.Lys374Gln) n.801A>C c.*338A>C (n.*338A>C) c.*461A>C (n.*461A>C) c.1006A>C (p.Lys336Gln) c.163A>C (p.Lys55Gln) n.445A>C n.434A>C c.913A>C (p.Lys305Gln) c.1141A>C (p.Lys381Gln) c.1048A>C (p.Lys350Gln) | |
| X | g.19359022A>G | CA412396299 | PDHA1 | c.1027A>G (p.Lys343Glu) c.*698A>G (n.*698A>G) c.1090A>G (p.Lys364Glu) c.1120A>G (p.Lys374Glu) n.801A>G c.*338A>G (n.*338A>G) c.*461A>G (n.*461A>G) c.1006A>G (p.Lys336Glu) c.163A>G (p.Lys55Glu) n.445A>G n.434A>G c.913A>G (p.Lys305Glu) c.1141A>G (p.Lys381Glu) c.1048A>G (p.Lys350Glu) | gnomAD v4 |
| X | g.19359022A>T | CA412396300 | PDHA1 | c.1027A>T (p.Lys343Ter) c.*698A>T (n.*698A>T) c.1090A>T (p.Lys364Ter) c.1120A>T (p.Lys374Ter) n.801A>T c.*338A>T (n.*338A>T) c.*461A>T (n.*461A>T) c.1006A>T (p.Lys336Ter) c.163A>T (p.Lys55Ter) n.445A>T n.434A>T c.913A>T (p.Lys305Ter) c.1141A>T (p.Lys381Ter) c.1048A>T (p.Lys350Ter) | |
| X | g.19359023A= | CA2418225260 | PDHA1 | c.1028A= (p.Lys343=) c.*699A= (n.*699A=) c.1091A= (p.Lys364=) c.1121A= (p.Lys374=) n.802A= c.*339A= (n.*339A=) c.*462A= (n.*462A=) c.1007A= (p.Lys336=) c.164A= (p.Lys55=) n.446A= n.435A= c.914A= (p.Lys305=) c.1142A= (p.Lys381=) c.1049A= (p.Lys350=) | |
| X | g.19359023A>C | CA412396301 | PDHA1 | c.1028A>C (p.Lys343Thr) c.*699A>C (n.*699A>C) c.1091A>C (p.Lys364Thr) c.1121A>C (p.Lys374Thr) n.802A>C c.*339A>C (n.*339A>C) c.*462A>C (n.*462A>C) c.1007A>C (p.Lys336Thr) c.164A>C (p.Lys55Thr) n.446A>C n.435A>C c.914A>C (p.Lys305Thr) c.1142A>C (p.Lys381Thr) c.1049A>C (p.Lys350Thr) | |
| X | g.19359023A>G | CA412396302 | PDHA1 | c.1028A>G (p.Lys343Arg) c.*699A>G (n.*699A>G) c.1091A>G (p.Lys364Arg) c.1121A>G (p.Lys374Arg) n.802A>G c.*339A>G (n.*339A>G) c.*462A>G (n.*462A>G) c.1007A>G (p.Lys336Arg) c.164A>G (p.Lys55Arg) n.446A>G n.435A>G c.914A>G (p.Lys305Arg) c.1142A>G (p.Lys381Arg) c.1049A>G (p.Lys350Arg) | gnomAD v4 |
| X | g.19359023A>T | CA412396303 | PDHA1 | c.1028A>T (p.Lys343Met) c.*699A>T (n.*699A>T) c.1091A>T (p.Lys364Met) c.1121A>T (p.Lys374Met) n.802A>T c.*339A>T (n.*339A>T) c.*462A>T (n.*462A>T) c.1007A>T (p.Lys336Met) c.164A>T (p.Lys55Met) n.446A>T n.435A>T c.914A>T (p.Lys305Met) c.1142A>T (p.Lys381Met) c.1049A>T (p.Lys350Met) | |
| X | g.19359023_19359050delinsAGGTACAGTCACTTGTTCATGGTGGTTT | CA2418225261 | PDHA1 | c.1028_1029+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.*699_*700+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.1091_1092+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.1121_1122+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT n.802_803+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.*339_*340+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.*462_*463+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.1007_1008+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.164_165+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT n.446_447+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.914_915+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.1142_1143+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT c.1049_1050+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT | |
| X | g.19359024G>A | CA515486401 | PDHA1 | c.1029G>A (p.Lys343=) c.*700G>A (n.*700G>A) c.1092G>A (p.Lys364=) c.1122G>A (p.Lys374=) n.803G>A c.*340G>A (n.*340G>A) c.*463G>A (n.*463G>A) c.1008G>A (p.Lys336=) c.165G>A (p.Lys55=) n.447G>A n.436G>A c.915G>A (p.Lys305=) c.1143G>A (p.Lys381=) c.1050G>A (p.Lys350=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359024G>C | CA412396304 | PDHA1 | c.1029G>C (p.Lys343Asn) c.*700G>C (n.*700G>C) c.1092G>C (p.Lys364Asn) c.1122G>C (p.Lys374Asn) n.803G>C c.*340G>C (n.*340G>C) c.*463G>C (n.*463G>C) c.1008G>C (p.Lys336Asn) c.165G>C (p.Lys55Asn) n.447G>C n.436G>C c.915G>C (p.Lys305Asn) c.1143G>C (p.Lys381Asn) c.1050G>C (p.Lys350Asn) | |
| X | g.19359024G= | CA2418225262 | PDHA1 | c.1029G= (p.Lys343=) c.*700G= (n.*700G=) c.1092G= (p.Lys364=) c.1122G= (p.Lys374=) n.803G= c.*340G= (n.*340G=) c.*463G= (n.*463G=) c.1008G= (p.Lys336=) c.165G= (p.Lys55=) n.447G= n.436G= c.915G= (p.Lys305=) c.1143G= (p.Lys381=) c.1050G= (p.Lys350=) | |
| X | g.19359024G>T | CA412396305 | PDHA1 | c.1029G>T (p.Lys343Asn) c.*700G>T (n.*700G>T) c.1092G>T (p.Lys364Asn) c.1122G>T (p.Lys374Asn) n.803G>T c.*340G>T (n.*340G>T) c.*463G>T (n.*463G>T) c.1008G>T (p.Lys336Asn) c.165G>T (p.Lys55Asn) n.447G>T n.436G>T c.915G>T (p.Lys305Asn) c.1143G>T (p.Lys381Asn) c.1050G>T (p.Lys350Asn) | |
| X | g.19359025del | CA2579566421 | PDHA1 | c.1029+1del c.*700+1del c.1092+1del c.1122+1del n.803+1del c.*340+1del c.*463+1del c.1008+1del c.165+1del n.447+1del n.437del c.915+1del c.1143+1del c.1050+1del | |
| X | g.19359025_19359044dup | CA10363175 | PDHA1 | c.1029+1_1029+20dup c.*700+1_*700+20dup c.1092+1_1092+20dup c.1122+1_1122+20dup n.803+1_803+20dup c.*340+1_*340+20dup c.*463+1_*463+20dup c.1008+1_1008+20dup c.165+1_165+20dup n.447+1_447+20dup c.915+1_915+20dup c.1143+1_1143+20dup c.1050+1_1050+20dup | dbSNP ExAC gnomAD v2 gnomAD v4 |