Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.19359520_19359528dup | CA2695231668 | PDHA1 | c.1061_1069dup (p.Ala356_Ala357insGluAspAla) c.*732_*740dup (n.*732_*740dup) c.1124_1132dup (p.Ala377_Ala378insGluAspAla) c.1154_1162dup (p.Ala387_Ala388insGluAspAla) n.835_843dup c.*372_*380dup (n.*372_*380dup) c.*495_*503dup (n.*495_*503dup) c.1040_1048dup (p.Ala349_Ala350insGluAspAla) c.197_205dup (p.Ala68_Ala69insGluAspAla) n.479_487dup c.947_955dup (p.Ala318_Ala319insGluAspAla) c.1175_1183dup (p.Ala394_Ala395insGluAspAla) c.1082_1090dup (p.Ala363_Ala364insGluAspAla) | |
X | g.19359522_19359533del | CA2697552883 | PDHA1 | c.1063_1074del (p.Asp355_Gln358del) c.*734_*745del (n.*734_*745del) c.1126_1137del (p.Asp376_Gln379del) c.1156_1167del (p.Asp386_Gln389del) n.837_848del c.*374_*385del (n.*374_*385del) c.*497_*508del (n.*497_*508del) c.1042_1053del (p.Asp348_Gln351del) c.199_210del (p.Asp67_Gln70del) n.481_492del c.949_960del (p.Asp317_Gln320del) c.1177_1188del (p.Asp393_Gln396del) c.1084_1095del (p.Asp362_Gln365del) | ClinVar |
X | g.19359523_19359533del | CA2580100436 | PDHA1 | c.1064_1074del (p.Asp355ValfsTer7) c.*735_*745del (n.*735_*745del) c.1127_1137del (p.Asp376ValfsTer7) c.1157_1167del (p.Asp386ValfsTer7) n.838_848del c.*375_*385del (n.*375_*385del) c.*498_*508del (n.*498_*508del) c.1043_1053del (p.Asp348ValfsTer7) c.200_210del (p.Asp67ValfsTer7) n.482_492del c.950_960del (p.Asp317ValfsTer7) c.1178_1188del (p.Asp393ValfsTer7) c.1085_1095del (p.Asp362ValfsTer7) | ClinVar |
X | g.19359526C>A | CA412396527 | PDHA1 | c.1067C>A (p.Ala356Asp) c.*738C>A (n.*738C>A) c.1130C>A (p.Ala377Asp) c.1160C>A (p.Ala387Asp) n.841C>A c.*378C>A (n.*378C>A) c.*501C>A (n.*501C>A) c.1046C>A (p.Ala349Asp) c.203C>A (p.Ala68Asp) n.485C>A c.953C>A (p.Ala318Asp) c.1181C>A (p.Ala394Asp) c.1088C>A (p.Ala363Asp) | |
X | g.19359526C= | CA2418225575 | PDHA1 | c.1067C= (p.Ala356=) c.*738C= (n.*738C=) c.1130C= (p.Ala377=) c.1160C= (p.Ala387=) n.841C= c.*378C= (n.*378C=) c.*501C= (n.*501C=) c.1046C= (p.Ala349=) c.203C= (p.Ala68=) n.485C= c.953C= (p.Ala318=) c.1181C= (p.Ala394=) c.1088C= (p.Ala363=) | |
X | g.19359526C>G | CA412396524 | PDHA1 | c.1067C>G (p.Ala356Gly) c.*738C>G (n.*738C>G) c.1130C>G (p.Ala377Gly) c.1160C>G (p.Ala387Gly) n.841C>G c.*378C>G (n.*378C>G) c.*501C>G (n.*501C>G) c.1046C>G (p.Ala349Gly) c.203C>G (p.Ala68Gly) n.485C>G c.953C>G (p.Ala318Gly) c.1181C>G (p.Ala394Gly) c.1088C>G (p.Ala363Gly) | |
X | g.19359526C>T | CA412396526 | PDHA1 | c.1067C>T (p.Ala356Val) c.*738C>T (n.*738C>T) c.1130C>T (p.Ala377Val) c.1160C>T (p.Ala387Val) n.841C>T c.*378C>T (n.*378C>T) c.*501C>T (n.*501C>T) c.1046C>T (p.Ala349Val) c.203C>T (p.Ala68Val) n.485C>T c.953C>T (p.Ala318Val) c.1181C>T (p.Ala394Val) c.1088C>T (p.Ala363Val) | ClinVar dbSNP |
X | g.19359527T>A | CA515486421 | PDHA1 | c.1068T>A (p.Ala356=) c.*739T>A (n.*739T>A) c.1131T>A (p.Ala377=) c.1161T>A (p.Ala387=) n.842T>A c.*379T>A (n.*379T>A) c.*502T>A (n.*502T>A) c.1047T>A (p.Ala349=) c.204T>A (p.Ala68=) n.486T>A c.954T>A (p.Ala318=) c.1182T>A (p.Ala394=) c.1089T>A (p.Ala363=) | |
X | g.19359527T>C | CA515486422 | PDHA1 | c.1068T>C (p.Ala356=) c.*739T>C (n.*739T>C) c.1131T>C (p.Ala377=) c.1161T>C (p.Ala387=) n.842T>C c.*379T>C (n.*379T>C) c.*502T>C (n.*502T>C) c.1047T>C (p.Ala349=) c.204T>C (p.Ala68=) n.486T>C c.954T>C (p.Ala318=) c.1182T>C (p.Ala394=) c.1089T>C (p.Ala363=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359527T>G | CA515486423 | PDHA1 | c.1068T>G (p.Ala356=) c.*739T>G (n.*739T>G) c.1131T>G (p.Ala377=) c.1161T>G (p.Ala387=) n.842T>G c.*379T>G (n.*379T>G) c.*502T>G (n.*502T>G) c.1047T>G (p.Ala349=) c.204T>G (p.Ala68=) n.486T>G c.954T>G (p.Ala318=) c.1182T>G (p.Ala394=) c.1089T>G (p.Ala363=) | |
X | g.19359527T= | CA2418225576 | PDHA1 | c.1068T= (p.Ala356=) c.*739T= (n.*739T=) c.1131T= (p.Ala377=) c.1161T= (p.Ala387=) n.842T= c.*379T= (n.*379T=) c.*502T= (n.*502T=) c.1047T= (p.Ala349=) c.204T= (p.Ala68=) n.486T= c.954T= (p.Ala318=) c.1182T= (p.Ala394=) c.1089T= (p.Ala363=) | |
X | g.19359528del | CA2579566469 | PDHA1 | c.1069del (p.Ala357ProfsTer?) c.*740del (n.*740del) c.1132del (p.Ala378ProfsTer?) c.1162del (p.Ala388ProfsTer?) n.843del c.*380del (n.*380del) c.*503del (n.*503del) c.1048del (p.Ala350ProfsTer?) c.205del (p.Ala69ProfsTer?) n.487del c.955del (p.Ala319ProfsTer?) c.1183del (p.Ala395ProfsTer?) c.1090del (p.Ala364ProfsTer?) | |
X | g.19359528G>A | CA412396530 | PDHA1 | c.1069G>A (p.Ala357Thr) c.*740G>A (n.*740G>A) c.1132G>A (p.Ala378Thr) c.1162G>A (p.Ala388Thr) n.843G>A c.*380G>A (n.*380G>A) c.*503G>A (n.*503G>A) c.1048G>A (p.Ala350Thr) c.205G>A (p.Ala69Thr) n.487G>A c.955G>A (p.Ala319Thr) c.1183G>A (p.Ala395Thr) c.1090G>A (p.Ala364Thr) | |
X | g.19359528G>C | CA412396531 | PDHA1 | c.1069G>C (p.Ala357Pro) c.*740G>C (n.*740G>C) c.1132G>C (p.Ala378Pro) c.1162G>C (p.Ala388Pro) n.843G>C c.*380G>C (n.*380G>C) c.*503G>C (n.*503G>C) c.1048G>C (p.Ala350Pro) c.205G>C (p.Ala69Pro) n.487G>C c.955G>C (p.Ala319Pro) c.1183G>C (p.Ala395Pro) c.1090G>C (p.Ala364Pro) | |
X | g.19359528G>T | CA412396532 | PDHA1 | c.1069G>T (p.Ala357Ser) c.*740G>T (n.*740G>T) c.1132G>T (p.Ala378Ser) c.1162G>T (p.Ala388Ser) n.843G>T c.*380G>T (n.*380G>T) c.*503G>T (n.*503G>T) c.1048G>T (p.Ala350Ser) c.205G>T (p.Ala69Ser) n.487G>T c.955G>T (p.Ala319Ser) c.1183G>T (p.Ala395Ser) c.1090G>T (p.Ala364Ser) | |
X | g.19359529C>A | CA412396535 | PDHA1 | c.1070C>A (p.Ala357Asp) c.*741C>A (n.*741C>A) c.1133C>A (p.Ala378Asp) c.1163C>A (p.Ala388Asp) n.844C>A c.*381C>A (n.*381C>A) c.*504C>A (n.*504C>A) c.1049C>A (p.Ala350Asp) c.206C>A (p.Ala69Asp) n.488C>A c.956C>A (p.Ala319Asp) c.1184C>A (p.Ala395Asp) c.1091C>A (p.Ala364Asp) | |
X | g.19359529C= | CA2418225577 | PDHA1 | c.1070C= (p.Ala357=) c.*741C= (n.*741C=) c.1133C= (p.Ala378=) c.1163C= (p.Ala388=) n.844C= c.*381C= (n.*381C=) c.*504C= (n.*504C=) c.1049C= (p.Ala350=) c.206C= (p.Ala69=) n.488C= c.956C= (p.Ala319=) c.1184C= (p.Ala395=) c.1091C= (p.Ala364=) | |
X | g.19359529C>G | CA412396537 | PDHA1 | c.1070C>G (p.Ala357Gly) c.*741C>G (n.*741C>G) c.1133C>G (p.Ala378Gly) c.1163C>G (p.Ala388Gly) n.844C>G c.*381C>G (n.*381C>G) c.*504C>G (n.*504C>G) c.1049C>G (p.Ala350Gly) c.206C>G (p.Ala69Gly) n.488C>G c.956C>G (p.Ala319Gly) c.1184C>G (p.Ala395Gly) c.1091C>G (p.Ala364Gly) | |
X | g.19359529C>T | CA412396538 | PDHA1 | c.1070C>T (p.Ala357Val) c.*741C>T (n.*741C>T) c.1133C>T (p.Ala378Val) c.1163C>T (p.Ala388Val) n.844C>T c.*381C>T (n.*381C>T) c.*504C>T (n.*504C>T) c.1049C>T (p.Ala350Val) c.206C>T (p.Ala69Val) n.488C>T c.956C>T (p.Ala319Val) c.1184C>T (p.Ala395Val) c.1091C>T (p.Ala364Val) | |
X | g.19359530_19359531del | CA2579566470 | PDHA1 | c.1071_1072del (p.Gln358ValfsTer7) c.*742_*743del (n.*742_*743del) c.1134_1135del (p.Gln379ValfsTer7) c.1164_1165del (p.Gln389ValfsTer7) n.845_846del c.*382_*383del (n.*382_*383del) c.*505_*506del (n.*505_*506del) c.1050_1051del (p.Gln351ValfsTer7) c.207_208del (p.Gln70ValfsTer7) n.489_490del c.957_958del (p.Gln320ValfsTer7) c.1185_1186del (p.Gln396ValfsTer7) c.1092_1093del (p.Gln365ValfsTer7) | |
X | g.19359530C>A | CA515486426 | PDHA1 | c.1071C>A (p.Ala357=) c.*742C>A (n.*742C>A) c.1134C>A (p.Ala378=) c.1164C>A (p.Ala388=) n.845C>A c.*382C>A (n.*382C>A) c.*505C>A (n.*505C>A) c.1050C>A (p.Ala350=) c.207C>A (p.Ala69=) n.489C>A c.957C>A (p.Ala319=) c.1185C>A (p.Ala395=) c.1092C>A (p.Ala364=) | |
X | g.19359530C>G | CA515486424 | PDHA1 | c.1071C>G (p.Ala357=) c.*742C>G (n.*742C>G) c.1134C>G (p.Ala378=) c.1164C>G (p.Ala388=) n.845C>G c.*382C>G (n.*382C>G) c.*505C>G (n.*505C>G) c.1050C>G (p.Ala350=) c.207C>G (p.Ala69=) n.489C>G c.957C>G (p.Ala319=) c.1185C>G (p.Ala395=) c.1092C>G (p.Ala364=) | |
X | g.19359530C>T | CA515486425 | PDHA1 | c.1071C>T (p.Ala357=) c.*742C>T (n.*742C>T) c.1134C>T (p.Ala378=) c.1164C>T (p.Ala388=) n.845C>T c.*382C>T (n.*382C>T) c.*505C>T (n.*505C>T) c.1050C>T (p.Ala350=) c.207C>T (p.Ala69=) n.489C>T c.957C>T (p.Ala319=) c.1185C>T (p.Ala395=) c.1092C>T (p.Ala364=) | ClinVar dbSNP |
X | g.19359530_19359613dup | CA658684284 | PDHA1 | c.1071_1154dup (p.Arg385_Gly386insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.*742_*825dup (n.*742_*825dup) c.1134_1217dup (p.Arg406_Gly407insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1164_1247dup (p.Arg416_Gly417insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.845_928dup c.*382_*465dup (n.*382_*465dup) c.*505_*588dup (n.*505_*588dup) c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.207_290dup (p.Arg97_Gly98insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.489_572dup c.957_1040dup (p.Arg347_Gly348insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1185_1268dup (p.Arg423_Gly424insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1092_1175dup (p.Arg392_Gly393insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) | ClinVar dbSNP |
X | g.19359531C>A | CA412396542 | PDHA1 | c.1072C>A (p.Gln358Lys) c.*743C>A (n.*743C>A) c.1135C>A (p.Gln379Lys) c.1165C>A (p.Gln389Lys) n.846C>A c.*383C>A (n.*383C>A) c.*506C>A (n.*506C>A) c.1051C>A (p.Gln351Lys) c.208C>A (p.Gln70Lys) n.490C>A c.958C>A (p.Gln320Lys) c.1186C>A (p.Gln396Lys) c.1093C>A (p.Gln365Lys) | |
X | g.19359531C>G | CA412396543 | PDHA1 | c.1072C>G (p.Gln358Glu) c.*743C>G (n.*743C>G) c.1135C>G (p.Gln379Glu) c.1165C>G (p.Gln389Glu) n.846C>G c.*383C>G (n.*383C>G) c.*506C>G (n.*506C>G) c.1051C>G (p.Gln351Glu) c.208C>G (p.Gln70Glu) n.490C>G c.958C>G (p.Gln320Glu) c.1186C>G (p.Gln396Glu) c.1093C>G (p.Gln365Glu) | |
X | g.19359531C>T | CA412396544 | PDHA1 | c.1072C>T (p.Gln358Ter) c.*743C>T (n.*743C>T) c.1135C>T (p.Gln379Ter) c.1165C>T (p.Gln389Ter) n.846C>T c.*383C>T (n.*383C>T) c.*506C>T (n.*506C>T) c.1051C>T (p.Gln351Ter) c.208C>T (p.Gln70Ter) n.490C>T c.958C>T (p.Gln320Ter) c.1186C>T (p.Gln396Ter) c.1093C>T (p.Gln365Ter) | |
X | g.19359532A>C | CA412396550 | PDHA1 | c.1073A>C (p.Gln358Pro) c.*744A>C (n.*744A>C) c.1136A>C (p.Gln379Pro) c.1166A>C (p.Gln389Pro) n.847A>C c.*384A>C (n.*384A>C) c.*507A>C (n.*507A>C) c.1052A>C (p.Gln351Pro) c.209A>C (p.Gln70Pro) n.491A>C c.959A>C (p.Gln320Pro) c.1187A>C (p.Gln396Pro) c.1094A>C (p.Gln365Pro) | |
X | g.19359532A>G | CA412396549 | PDHA1 | c.1073A>G (p.Gln358Arg) c.*744A>G (n.*744A>G) c.1136A>G (p.Gln379Arg) c.1166A>G (p.Gln389Arg) n.847A>G c.*384A>G (n.*384A>G) c.*507A>G (n.*507A>G) c.1052A>G (p.Gln351Arg) c.209A>G (p.Gln70Arg) n.491A>G c.959A>G (p.Gln320Arg) c.1187A>G (p.Gln396Arg) c.1094A>G (p.Gln365Arg) | gnomAD v4 |
X | g.19359532A>T | CA412396547 | PDHA1 | c.1073A>T (p.Gln358Leu) c.*744A>T (n.*744A>T) c.1136A>T (p.Gln379Leu) c.1166A>T (p.Gln389Leu) n.847A>T c.*384A>T (n.*384A>T) c.*507A>T (n.*507A>T) c.1052A>T (p.Gln351Leu) c.209A>T (p.Gln70Leu) n.491A>T c.959A>T (p.Gln320Leu) c.1187A>T (p.Gln396Leu) c.1094A>T (p.Gln365Leu) | |
X | g.19359533G>A | CA515486427 | PDHA1 | c.1074G>A (p.Gln358=) c.*745G>A (n.*745G>A) c.1137G>A (p.Gln379=) c.1167G>A (p.Gln389=) n.848G>A c.*385G>A (n.*385G>A) c.*508G>A (n.*508G>A) c.1053G>A (p.Gln351=) c.210G>A (p.Gln70=) n.492G>A c.960G>A (p.Gln320=) c.1188G>A (p.Gln396=) c.1095G>A (p.Gln365=) | gnomAD v4 |
X | g.19359533G>C | CA412396553 | PDHA1 | c.1074G>C (p.Gln358His) c.*745G>C (n.*745G>C) c.1137G>C (p.Gln379His) c.1167G>C (p.Gln389His) n.848G>C c.*385G>C (n.*385G>C) c.*508G>C (n.*508G>C) c.1053G>C (p.Gln351His) c.210G>C (p.Gln70His) n.492G>C c.960G>C (p.Gln320His) c.1188G>C (p.Gln396His) c.1095G>C (p.Gln365His) | |
X | g.19359533G>T | CA412396555 | PDHA1 | c.1074G>T (p.Gln358His) c.*745G>T (n.*745G>T) c.1137G>T (p.Gln379His) c.1167G>T (p.Gln389His) n.848G>T c.*385G>T (n.*385G>T) c.*508G>T (n.*508G>T) c.1053G>T (p.Gln351His) c.210G>T (p.Gln70His) n.492G>T c.960G>T (p.Gln320His) c.1188G>T (p.Gln396His) c.1095G>T (p.Gln365His) | gnomAD v4 |
X | g.19359534T>A | CA412396558 | PDHA1 | c.1075T>A (p.Phe359Ile) c.*746T>A (n.*746T>A) c.1138T>A (p.Phe380Ile) c.1168T>A (p.Phe390Ile) n.849T>A c.*386T>A (n.*386T>A) c.*509T>A (n.*509T>A) c.1054T>A (p.Phe352Ile) c.211T>A (p.Phe71Ile) n.493T>A c.961T>A (p.Phe321Ile) c.1189T>A (p.Phe397Ile) c.1096T>A (p.Phe366Ile) | |
X | g.19359534T>C | CA412396559 | PDHA1 | c.1075T>C (p.Phe359Leu) c.*746T>C (n.*746T>C) c.1138T>C (p.Phe380Leu) c.1168T>C (p.Phe390Leu) n.849T>C c.*386T>C (n.*386T>C) c.*509T>C (n.*509T>C) c.1054T>C (p.Phe352Leu) c.211T>C (p.Phe71Leu) n.493T>C c.961T>C (p.Phe321Leu) c.1189T>C (p.Phe397Leu) c.1096T>C (p.Phe366Leu) | |
X | g.19359534T>G | CA412396561 | PDHA1 | c.1075T>G (p.Phe359Val) c.*746T>G (n.*746T>G) c.1138T>G (p.Phe380Val) c.1168T>G (p.Phe390Val) n.849T>G c.*386T>G (n.*386T>G) c.*509T>G (n.*509T>G) c.1054T>G (p.Phe352Val) c.211T>G (p.Phe71Val) n.493T>G c.961T>G (p.Phe321Val) c.1189T>G (p.Phe397Val) c.1096T>G (p.Phe366Val) | |
X | g.19359536del | CA2579566471 | PDHA1 | c.1077del (p.Phe359LeufsTer?) c.*748del (n.*748del) c.1140del (p.Phe380LeufsTer?) c.1170del (p.Phe390LeufsTer?) n.851del c.*388del (n.*388del) c.*511del (n.*511del) c.1056del (p.Phe352LeufsTer?) c.213del (p.Phe71LeufsTer?) n.495del c.963del (p.Phe321LeufsTer?) c.1191del (p.Phe397LeufsTer?) c.1098del (p.Phe366LeufsTer?) | |
X | g.19359535T>A | CA412396563 | PDHA1 | c.1076T>A (p.Phe359Tyr) c.*747T>A (n.*747T>A) c.1139T>A (p.Phe380Tyr) c.1169T>A (p.Phe390Tyr) n.850T>A c.*387T>A (n.*387T>A) c.*510T>A (n.*510T>A) c.1055T>A (p.Phe352Tyr) c.212T>A (p.Phe71Tyr) n.494T>A c.962T>A (p.Phe321Tyr) c.1190T>A (p.Phe397Tyr) c.1097T>A (p.Phe366Tyr) | |
X | g.19359535T>C | CA412396565 | PDHA1 | c.1076T>C (p.Phe359Ser) c.*747T>C (n.*747T>C) c.1139T>C (p.Phe380Ser) c.1169T>C (p.Phe390Ser) n.850T>C c.*387T>C (n.*387T>C) c.*510T>C (n.*510T>C) c.1055T>C (p.Phe352Ser) c.212T>C (p.Phe71Ser) n.494T>C c.962T>C (p.Phe321Ser) c.1190T>C (p.Phe397Ser) c.1097T>C (p.Phe366Ser) | |
X | g.19359535T>G | CA412396567 | PDHA1 | c.1076T>G (p.Phe359Cys) c.*747T>G (n.*747T>G) c.1139T>G (p.Phe380Cys) c.1169T>G (p.Phe390Cys) n.850T>G c.*387T>G (n.*387T>G) c.*510T>G (n.*510T>G) c.1055T>G (p.Phe352Cys) c.212T>G (p.Phe71Cys) n.494T>G c.962T>G (p.Phe321Cys) c.1190T>G (p.Phe397Cys) c.1097T>G (p.Phe366Cys) | |
X | g.19359536T>A | CA412396569 | PDHA1 | c.1077T>A (p.Phe359Leu) c.*748T>A (n.*748T>A) c.1140T>A (p.Phe380Leu) c.1170T>A (p.Phe390Leu) n.851T>A c.*388T>A (n.*388T>A) c.*511T>A (n.*511T>A) c.1056T>A (p.Phe352Leu) c.213T>A (p.Phe71Leu) n.495T>A c.963T>A (p.Phe321Leu) c.1191T>A (p.Phe397Leu) c.1098T>A (p.Phe366Leu) | |
X | g.19359536T>C | CA515486428 | PDHA1 | c.1077T>C (p.Phe359=) c.*748T>C (n.*748T>C) c.1140T>C (p.Phe380=) c.1170T>C (p.Phe390=) n.851T>C c.*388T>C (n.*388T>C) c.*511T>C (n.*511T>C) c.1056T>C (p.Phe352=) c.213T>C (p.Phe71=) n.495T>C c.963T>C (p.Phe321=) c.1191T>C (p.Phe397=) c.1098T>C (p.Phe366=) | |
X | g.19359536T>G | CA412396571 | PDHA1 | c.1077T>G (p.Phe359Leu) c.*748T>G (n.*748T>G) c.1140T>G (p.Phe380Leu) c.1170T>G (p.Phe390Leu) n.851T>G c.*388T>G (n.*388T>G) c.*511T>G (n.*511T>G) c.1056T>G (p.Phe352Leu) c.213T>G (p.Phe71Leu) n.495T>G c.963T>G (p.Phe321Leu) c.1191T>G (p.Phe397Leu) c.1098T>G (p.Phe366Leu) | |
X | g.19359537G>A | CA412396573 | PDHA1 | c.1078G>A (p.Ala360Thr) c.*749G>A (n.*749G>A) c.1141G>A (p.Ala381Thr) c.1171G>A (p.Ala391Thr) n.852G>A c.*389G>A (n.*389G>A) c.*512G>A (n.*512G>A) c.1057G>A (p.Ala353Thr) c.214G>A (p.Ala72Thr) n.496G>A c.964G>A (p.Ala322Thr) c.1192G>A (p.Ala398Thr) c.1099G>A (p.Ala367Thr) | |
X | g.19359537G>C | CA412396575 | PDHA1 | c.1078G>C (p.Ala360Pro) c.*749G>C (n.*749G>C) c.1141G>C (p.Ala381Pro) c.1171G>C (p.Ala391Pro) n.852G>C c.*389G>C (n.*389G>C) c.*512G>C (n.*512G>C) c.1057G>C (p.Ala353Pro) c.214G>C (p.Ala72Pro) n.496G>C c.964G>C (p.Ala322Pro) c.1192G>C (p.Ala398Pro) c.1099G>C (p.Ala367Pro) | |
X | g.19359537G>T | CA412396577 | PDHA1 | c.1078G>T (p.Ala360Ser) c.*749G>T (n.*749G>T) c.1141G>T (p.Ala381Ser) c.1171G>T (p.Ala391Ser) n.852G>T c.*389G>T (n.*389G>T) c.*512G>T (n.*512G>T) c.1057G>T (p.Ala353Ser) c.214G>T (p.Ala72Ser) n.496G>T c.964G>T (p.Ala322Ser) c.1192G>T (p.Ala398Ser) c.1099G>T (p.Ala367Ser) | |
X | g.19359538C>A | CA412396582 | PDHA1 | c.1079C>A (p.Ala360Asp) c.*750C>A (n.*750C>A) c.1142C>A (p.Ala381Asp) c.1172C>A (p.Ala391Asp) n.853C>A c.*390C>A (n.*390C>A) c.*513C>A (n.*513C>A) c.1058C>A (p.Ala353Asp) c.215C>A (p.Ala72Asp) n.497C>A c.965C>A (p.Ala322Asp) c.1193C>A (p.Ala398Asp) c.1100C>A (p.Ala367Asp) | |
X | g.19359538C= | CA2418225578 | PDHA1 | c.1079C= (p.Ala360=) c.*750C= (n.*750C=) c.1142C= (p.Ala381=) c.1172C= (p.Ala391=) n.853C= c.*390C= (n.*390C=) c.*513C= (n.*513C=) c.1058C= (p.Ala353=) c.215C= (p.Ala72=) n.497C= c.965C= (p.Ala322=) c.1193C= (p.Ala398=) c.1100C= (p.Ala367=) | |
X | g.19359538C>G | CA412396584 | PDHA1 | c.1079C>G (p.Ala360Gly) c.*750C>G (n.*750C>G) c.1142C>G (p.Ala381Gly) c.1172C>G (p.Ala391Gly) n.853C>G c.*390C>G (n.*390C>G) c.*513C>G (n.*513C>G) c.1058C>G (p.Ala353Gly) c.215C>G (p.Ala72Gly) n.497C>G c.965C>G (p.Ala322Gly) c.1193C>G (p.Ala398Gly) c.1100C>G (p.Ala367Gly) | |
X | g.19359538C>T | CA412396579 | PDHA1 | c.1079C>T (p.Ala360Val) c.*750C>T (n.*750C>T) c.1142C>T (p.Ala381Val) c.1172C>T (p.Ala391Val) n.853C>T c.*390C>T (n.*390C>T) c.*513C>T (n.*513C>T) c.1058C>T (p.Ala353Val) c.215C>T (p.Ala72Val) n.497C>T c.965C>T (p.Ala322Val) c.1193C>T (p.Ala398Val) c.1100C>T (p.Ala367Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.19359539del | CA2579566472 | PDHA1 | c.1080del (p.Thr361ArgfsTer?) c.*751del (n.*751del) c.1143del (p.Thr382ArgfsTer?) c.1173del (p.Thr392ArgfsTer?) n.854del c.*391del (n.*391del) c.*514del (n.*514del) c.1059del (p.Thr354ArgfsTer?) c.216del (p.Thr73ArgfsTer?) n.498del c.966del (p.Thr323ArgfsTer?) c.1194del (p.Thr399ArgfsTer?) c.1101del (p.Thr368ArgfsTer?) | |
X | g.19359539C>A | CA515486429 | PDHA1 | c.1080C>A (p.Ala360=) c.*751C>A (n.*751C>A) c.1143C>A (p.Ala381=) c.1173C>A (p.Ala391=) n.854C>A c.*391C>A (n.*391C>A) c.*514C>A (n.*514C>A) c.1059C>A (p.Ala353=) c.216C>A (p.Ala72=) n.498C>A c.966C>A (p.Ala322=) c.1194C>A (p.Ala398=) c.1101C>A (p.Ala367=) | COSMIC COSMIC |
X | g.19359539C= | CA2418225579 | PDHA1 | c.1080C= (p.Ala360=) c.*751C= (n.*751C=) c.1143C= (p.Ala381=) c.1173C= (p.Ala391=) n.854C= c.*391C= (n.*391C=) c.*514C= (n.*514C=) c.1059C= (p.Ala353=) c.216C= (p.Ala72=) n.498C= c.966C= (p.Ala322=) c.1194C= (p.Ala398=) c.1101C= (p.Ala367=) | |
X | g.19359539C>G | CA515486430 | PDHA1 | c.1080C>G (p.Ala360=) c.*751C>G (n.*751C>G) c.1143C>G (p.Ala381=) c.1173C>G (p.Ala391=) n.854C>G c.*391C>G (n.*391C>G) c.*514C>G (n.*514C>G) c.1059C>G (p.Ala353=) c.216C>G (p.Ala72=) n.498C>G c.966C>G (p.Ala322=) c.1194C>G (p.Ala398=) c.1101C>G (p.Ala367=) | |
X | g.19359539C>T | CA515486431 | PDHA1 | c.1080C>T (p.Ala360=) c.*751C>T (n.*751C>T) c.1143C>T (p.Ala381=) c.1173C>T (p.Ala391=) n.854C>T c.*391C>T (n.*391C>T) c.*514C>T (n.*514C>T) c.1059C>T (p.Ala353=) c.216C>T (p.Ala72=) n.498C>T c.966C>T (p.Ala322=) c.1194C>T (p.Ala398=) c.1101C>T (p.Ala367=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.19359540A= | CA2418225580 | PDHA1 | c.1081A= (p.Thr361=) c.*752A= (n.*752A=) c.1144A= (p.Thr382=) c.1174A= (p.Thr392=) n.855A= c.*392A= (n.*392A=) c.*515A= (n.*515A=) c.1060A= (p.Thr354=) c.217A= (p.Thr73=) n.499A= c.967A= (p.Thr323=) c.1195A= (p.Thr399=) c.1102A= (p.Thr368=) | |
X | g.19359540A>C | CA412396586 | PDHA1 | c.1081A>C (p.Thr361Pro) c.*752A>C (n.*752A>C) c.1144A>C (p.Thr382Pro) c.1174A>C (p.Thr392Pro) n.855A>C c.*392A>C (n.*392A>C) c.*515A>C (n.*515A>C) c.1060A>C (p.Thr354Pro) c.217A>C (p.Thr73Pro) n.499A>C c.967A>C (p.Thr323Pro) c.1195A>C (p.Thr399Pro) c.1102A>C (p.Thr368Pro) | ClinVar dbSNP |
X | g.19359540A>G | CA412396588 | PDHA1 | c.1081A>G (p.Thr361Ala) c.*752A>G (n.*752A>G) c.1144A>G (p.Thr382Ala) c.1174A>G (p.Thr392Ala) n.855A>G c.*392A>G (n.*392A>G) c.*515A>G (n.*515A>G) c.1060A>G (p.Thr354Ala) c.217A>G (p.Thr73Ala) n.499A>G c.967A>G (p.Thr323Ala) c.1195A>G (p.Thr399Ala) c.1102A>G (p.Thr368Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359540A>T | CA412396589 | PDHA1 | c.1081A>T (p.Thr361Ser) c.*752A>T (n.*752A>T) c.1144A>T (p.Thr382Ser) c.1174A>T (p.Thr392Ser) n.855A>T c.*392A>T (n.*392A>T) c.*515A>T (n.*515A>T) c.1060A>T (p.Thr354Ser) c.217A>T (p.Thr73Ser) n.499A>T c.967A>T (p.Thr323Ser) c.1195A>T (p.Thr399Ser) c.1102A>T (p.Thr368Ser) | |
X | g.19359541C>A | CA412396591 | PDHA1 | c.1082C>A (p.Thr361Lys) c.*753C>A (n.*753C>A) c.1145C>A (p.Thr382Lys) c.1175C>A (p.Thr392Lys) n.856C>A c.*393C>A (n.*393C>A) c.*516C>A (n.*516C>A) c.1061C>A (p.Thr354Lys) c.218C>A (p.Thr73Lys) n.500C>A c.968C>A (p.Thr323Lys) c.1196C>A (p.Thr399Lys) c.1103C>A (p.Thr368Lys) | |
X | g.19359541C= | CA2418225581 | PDHA1 | c.1082C= (p.Thr361=) c.*753C= (n.*753C=) c.1145C= (p.Thr382=) c.1175C= (p.Thr392=) n.856C= c.*393C= (n.*393C=) c.*516C= (n.*516C=) c.1061C= (p.Thr354=) c.218C= (p.Thr73=) n.500C= c.968C= (p.Thr323=) c.1196C= (p.Thr399=) c.1103C= (p.Thr368=) | |
X | g.19359541C>G | CA412396593 | PDHA1 | c.1082C>G (p.Thr361Arg) c.*753C>G (n.*753C>G) c.1145C>G (p.Thr382Arg) c.1175C>G (p.Thr392Arg) n.856C>G c.*393C>G (n.*393C>G) c.*516C>G (n.*516C>G) c.1061C>G (p.Thr354Arg) c.218C>G (p.Thr73Arg) n.500C>G c.968C>G (p.Thr323Arg) c.1196C>G (p.Thr399Arg) c.1103C>G (p.Thr368Arg) | |
X | g.19359541C>T | CA10363204 | PDHA1 | c.1082C>T (p.Thr361Met) c.*753C>T (n.*753C>T) c.1145C>T (p.Thr382Met) c.1175C>T (p.Thr392Met) n.856C>T c.*393C>T (n.*393C>T) c.*516C>T (n.*516C>T) c.1061C>T (p.Thr354Met) c.218C>T (p.Thr73Met) n.500C>T c.968C>T (p.Thr323Met) c.1196C>T (p.Thr399Met) c.1103C>T (p.Thr368Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359542G>A | CA10363206 | PDHA1 | c.1083G>A (p.Thr361=) c.*754G>A (n.*754G>A) c.1146G>A (p.Thr382=) c.1176G>A (p.Thr392=) n.857G>A c.*394G>A (n.*394G>A) c.*517G>A (n.*517G>A) c.1062G>A (p.Thr354=) c.219G>A (p.Thr73=) n.501G>A c.969G>A (p.Thr323=) c.1197G>A (p.Thr399=) c.1104G>A (p.Thr368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359542G>C | CA515486432 | PDHA1 | c.1083G>C (p.Thr361=) c.*754G>C (n.*754G>C) c.1146G>C (p.Thr382=) c.1176G>C (p.Thr392=) n.857G>C c.*394G>C (n.*394G>C) c.*517G>C (n.*517G>C) c.1062G>C (p.Thr354=) c.219G>C (p.Thr73=) n.501G>C c.969G>C (p.Thr323=) c.1197G>C (p.Thr399=) c.1104G>C (p.Thr368=) | dbSNP |
X | g.19359542G= | CA2418225582 | PDHA1 | c.1083G= (p.Thr361=) c.*754G= (n.*754G=) c.1146G= (p.Thr382=) c.1176G= (p.Thr392=) n.857G= c.*394G= (n.*394G=) c.*517G= (n.*517G=) c.1062G= (p.Thr354=) c.219G= (p.Thr73=) n.501G= c.969G= (p.Thr323=) c.1197G= (p.Thr399=) c.1104G= (p.Thr368=) | |
X | g.19359542G>T | CA10363205 | PDHA1 | c.1083G>T (p.Thr361=) c.*754G>T (n.*754G>T) c.1146G>T (p.Thr382=) c.1176G>T (p.Thr392=) n.857G>T c.*394G>T (n.*394G>T) c.*517G>T (n.*517G>T) c.1062G>T (p.Thr354=) c.219G>T (p.Thr73=) n.501G>T c.969G>T (p.Thr323=) c.1197G>T (p.Thr399=) c.1104G>T (p.Thr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359543G>A | CA412396598 | PDHA1 | c.1084G>A (p.Ala362Thr) c.*755G>A (n.*755G>A) c.1147G>A (p.Ala383Thr) c.1177G>A (p.Ala393Thr) n.858G>A c.*395G>A (n.*395G>A) c.*518G>A (n.*518G>A) c.1063G>A (p.Ala355Thr) c.220G>A (p.Ala74Thr) n.502G>A c.970G>A (p.Ala324Thr) c.1198G>A (p.Ala400Thr) c.1105G>A (p.Ala369Thr) | ClinVar dbSNP |
X | g.19359543G>C | CA412396600 | PDHA1 | c.1084G>C (p.Ala362Pro) c.*755G>C (n.*755G>C) c.1147G>C (p.Ala383Pro) c.1177G>C (p.Ala393Pro) n.858G>C c.*395G>C (n.*395G>C) c.*518G>C (n.*518G>C) c.1063G>C (p.Ala355Pro) c.220G>C (p.Ala74Pro) n.502G>C c.970G>C (p.Ala324Pro) c.1198G>C (p.Ala400Pro) c.1105G>C (p.Ala369Pro) | |
X | g.19359543G= | CA2418225583 | PDHA1 | c.1084G= (p.Ala362=) c.*755G= (n.*755G=) c.1147G= (p.Ala383=) c.1177G= (p.Ala393=) n.858G= c.*395G= (n.*395G=) c.*518G= (n.*518G=) c.1063G= (p.Ala355=) c.220G= (p.Ala74=) n.502G= c.970G= (p.Ala324=) c.1198G= (p.Ala400=) c.1105G= (p.Ala369=) | |
X | g.19359543G>T | CA327031144 | PDHA1 | c.1084G>T (p.Ala362Ser) c.*755G>T (n.*755G>T) c.1147G>T (p.Ala383Ser) c.1177G>T (p.Ala393Ser) n.858G>T c.*395G>T (n.*395G>T) c.*518G>T (n.*518G>T) c.1063G>T (p.Ala355Ser) c.220G>T (p.Ala74Ser) n.502G>T c.970G>T (p.Ala324Ser) c.1198G>T (p.Ala400Ser) c.1105G>T (p.Ala369Ser) | dbSNP gnomAD v4 |
X | g.19359543_19359548del | CA2695231669 | PDHA1 | c.1084_1089del (p.Ala362_Asp363del) c.*755_*760del (n.*755_*760del) c.1147_1152del (p.Ala383_Asp384del) c.1177_1182del (p.Ala393_Asp394del) n.858_863del c.*395_*400del (n.*395_*400del) c.*518_*523del (n.*518_*523del) c.1063_1068del (p.Ala355_Asp356del) c.220_225del (p.Ala74_Asp75del) n.502_507del c.970_975del (p.Ala324_Asp325del) c.1198_1203del (p.Ala400_Asp401del) c.1105_1110del (p.Ala369_Asp370del) | |
X | g.19359544C>A | CA412396604 | PDHA1 | c.1085C>A (p.Ala362Asp) c.*756C>A (n.*756C>A) c.1148C>A (p.Ala383Asp) c.1178C>A (p.Ala393Asp) n.859C>A c.*396C>A (n.*396C>A) c.*519C>A (n.*519C>A) c.1064C>A (p.Ala355Asp) c.221C>A (p.Ala74Asp) n.503C>A c.971C>A (p.Ala324Asp) c.1199C>A (p.Ala400Asp) c.1106C>A (p.Ala369Asp) | |
X | g.19359544C>G | CA412396606 | PDHA1 | c.1085C>G (p.Ala362Gly) c.*756C>G (n.*756C>G) c.1148C>G (p.Ala383Gly) c.1178C>G (p.Ala393Gly) n.859C>G c.*396C>G (n.*396C>G) c.*519C>G (n.*519C>G) c.1064C>G (p.Ala355Gly) c.221C>G (p.Ala74Gly) n.503C>G c.971C>G (p.Ala324Gly) c.1199C>G (p.Ala400Gly) c.1106C>G (p.Ala369Gly) | |
X | g.19359544C>T | CA412396608 | PDHA1 | c.1085C>T (p.Ala362Val) c.*756C>T (n.*756C>T) c.1148C>T (p.Ala383Val) c.1178C>T (p.Ala393Val) n.859C>T c.*396C>T (n.*396C>T) c.*519C>T (n.*519C>T) c.1064C>T (p.Ala355Val) c.221C>T (p.Ala74Val) n.503C>T c.971C>T (p.Ala324Val) c.1199C>T (p.Ala400Val) c.1106C>T (p.Ala369Val) | |
X | g.19359545C>A | CA515486433 | PDHA1 | c.1086C>A (p.Ala362=) c.*757C>A (n.*757C>A) c.1149C>A (p.Ala383=) c.1179C>A (p.Ala393=) n.860C>A c.*397C>A (n.*397C>A) c.*520C>A (n.*520C>A) c.1065C>A (p.Ala355=) c.222C>A (p.Ala74=) n.504C>A c.972C>A (p.Ala324=) c.1200C>A (p.Ala400=) c.1107C>A (p.Ala369=) | ClinVar dbSNP gnomAD v4 |
X | g.19359545C= | CA2418225584 | PDHA1 | c.1086C= (p.Ala362=) c.*757C= (n.*757C=) c.1149C= (p.Ala383=) c.1179C= (p.Ala393=) n.860C= c.*397C= (n.*397C=) c.*520C= (n.*520C=) c.1065C= (p.Ala355=) c.222C= (p.Ala74=) n.504C= c.972C= (p.Ala324=) c.1200C= (p.Ala400=) c.1107C= (p.Ala369=) | |
X | g.19359545C>G | CA515486434 | PDHA1 | c.1086C>G (p.Ala362=) c.*757C>G (n.*757C>G) c.1149C>G (p.Ala383=) c.1179C>G (p.Ala393=) n.860C>G c.*397C>G (n.*397C>G) c.*520C>G (n.*520C>G) c.1065C>G (p.Ala355=) c.222C>G (p.Ala74=) n.504C>G c.972C>G (p.Ala324=) c.1200C>G (p.Ala400=) c.1107C>G (p.Ala369=) | |
X | g.19359545C>T | CA10363207 | PDHA1 | c.1086C>T (p.Ala362=) c.*757C>T (n.*757C>T) c.1149C>T (p.Ala383=) c.1179C>T (p.Ala393=) n.860C>T c.*397C>T (n.*397C>T) c.*520C>T (n.*520C>T) c.1065C>T (p.Ala355=) c.222C>T (p.Ala74=) n.504C>T c.972C>T (p.Ala324=) c.1200C>T (p.Ala400=) c.1107C>T (p.Ala369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359546G>A | CA10363208 | PDHA1 | c.1087G>A (p.Asp363Asn) c.*758G>A (n.*758G>A) c.1150G>A (p.Asp384Asn) c.1180G>A (p.Asp394Asn) n.861G>A c.*398G>A (n.*398G>A) c.*521G>A (n.*521G>A) c.1066G>A (p.Asp356Asn) c.223G>A (p.Asp75Asn) n.505G>A c.973G>A (p.Asp325Asn) c.1201G>A (p.Asp401Asn) c.1108G>A (p.Asp370Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359546G>C | CA412396616 | PDHA1 | c.1087G>C (p.Asp363His) c.*758G>C (n.*758G>C) c.1150G>C (p.Asp384His) c.1180G>C (p.Asp394His) n.861G>C c.*398G>C (n.*398G>C) c.*521G>C (n.*521G>C) c.1066G>C (p.Asp356His) c.223G>C (p.Asp75His) n.505G>C c.973G>C (p.Asp325His) c.1201G>C (p.Asp401His) c.1108G>C (p.Asp370His) | |
X | g.19359546G= | CA2418225585 | PDHA1 | c.1087G= (p.Asp363=) c.*758G= (n.*758G=) c.1150G= (p.Asp384=) c.1180G= (p.Asp394=) n.861G= c.*398G= (n.*398G=) c.*521G= (n.*521G=) c.1066G= (p.Asp356=) c.223G= (p.Asp75=) n.505G= c.973G= (p.Asp325=) c.1201G= (p.Asp401=) c.1108G= (p.Asp370=) | |
X | g.19359546G>T | CA412396613 | PDHA1 | c.1087G>T (p.Asp363Tyr) c.*758G>T (n.*758G>T) c.1150G>T (p.Asp384Tyr) c.1180G>T (p.Asp394Tyr) n.861G>T c.*398G>T (n.*398G>T) c.*521G>T (n.*521G>T) c.1066G>T (p.Asp356Tyr) c.223G>T (p.Asp75Tyr) n.505G>T c.973G>T (p.Asp325Tyr) c.1201G>T (p.Asp401Tyr) c.1108G>T (p.Asp370Tyr) | |
X | g.19359546_19359554dup | CA2499226555 | PDHA1 | c.1087_1095dup (p.Glu365_Pro366insAspProGlu) c.*758_*766dup (n.*758_*766dup) c.1150_1158dup (p.Glu386_Pro387insAspProGlu) c.1180_1188dup (p.Glu396_Pro397insAspProGlu) n.861_869dup c.*398_*406dup (n.*398_*406dup) c.*521_*529dup (n.*521_*529dup) c.1066_1074dup (p.Glu358_Pro359insAspProGlu) c.223_231dup (p.Glu77_Pro78insAspProGlu) n.505_513dup c.973_981dup (p.Glu327_Pro328insAspProGlu) c.1201_1209dup (p.Glu403_Pro404insAspProGlu) c.1108_1116dup (p.Glu372_Pro373insAspProGlu) | ClinVar dbSNP |
X | g.19359547A>C | CA412396618 | PDHA1 | c.1088A>C (p.Asp363Ala) c.*759A>C (n.*759A>C) c.1151A>C (p.Asp384Ala) c.1181A>C (p.Asp394Ala) n.862A>C c.*399A>C (n.*399A>C) c.*522A>C (n.*522A>C) c.1067A>C (p.Asp356Ala) c.224A>C (p.Asp75Ala) n.506A>C c.974A>C (p.Asp325Ala) c.1202A>C (p.Asp401Ala) c.1109A>C (p.Asp370Ala) | |
X | g.19359547A>G | CA412396620 | PDHA1 | c.1088A>G (p.Asp363Gly) c.*759A>G (n.*759A>G) c.1151A>G (p.Asp384Gly) c.1181A>G (p.Asp394Gly) n.862A>G c.*399A>G (n.*399A>G) c.*522A>G (n.*522A>G) c.1067A>G (p.Asp356Gly) c.224A>G (p.Asp75Gly) n.506A>G c.974A>G (p.Asp325Gly) c.1202A>G (p.Asp401Gly) c.1109A>G (p.Asp370Gly) | |
X | g.19359547A>T | CA412396622 | PDHA1 | c.1088A>T (p.Asp363Val) c.*759A>T (n.*759A>T) c.1151A>T (p.Asp384Val) c.1181A>T (p.Asp394Val) n.862A>T c.*399A>T (n.*399A>T) c.*522A>T (n.*522A>T) c.1067A>T (p.Asp356Val) c.224A>T (p.Asp75Val) n.506A>T c.974A>T (p.Asp325Val) c.1202A>T (p.Asp401Val) c.1109A>T (p.Asp370Val) | |
X | g.19359548T>A | CA412396625 | PDHA1 | c.1089T>A (p.Asp363Glu) c.*760T>A (n.*760T>A) c.1152T>A (p.Asp384Glu) c.1182T>A (p.Asp394Glu) n.863T>A c.*400T>A (n.*400T>A) c.*523T>A (n.*523T>A) c.1068T>A (p.Asp356Glu) c.225T>A (p.Asp75Glu) n.507T>A c.975T>A (p.Asp325Glu) c.1203T>A (p.Asp401Glu) c.1110T>A (p.Asp370Glu) | |
X | g.19359548T>C | CA10363209 | PDHA1 | c.1089T>C (p.Asp363=) c.*760T>C (n.*760T>C) c.1152T>C (p.Asp384=) c.1182T>C (p.Asp394=) n.863T>C c.*400T>C (n.*400T>C) c.*523T>C (n.*523T>C) c.1068T>C (p.Asp356=) c.225T>C (p.Asp75=) n.507T>C c.975T>C (p.Asp325=) c.1203T>C (p.Asp401=) c.1110T>C (p.Asp370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359548T>G | CA412396628 | PDHA1 | c.1089T>G (p.Asp363Glu) c.*760T>G (n.*760T>G) c.1152T>G (p.Asp384Glu) c.1182T>G (p.Asp394Glu) n.863T>G c.*400T>G (n.*400T>G) c.*523T>G (n.*523T>G) c.1068T>G (p.Asp356Glu) c.225T>G (p.Asp75Glu) n.507T>G c.975T>G (p.Asp325Glu) c.1203T>G (p.Asp401Glu) c.1110T>G (p.Asp370Glu) | |
X | g.19359548T= | CA2418225586 | PDHA1 | c.1089T= (p.Asp363=) c.*760T= (n.*760T=) c.1152T= (p.Asp384=) c.1182T= (p.Asp394=) n.863T= c.*400T= (n.*400T=) c.*523T= (n.*523T=) c.1068T= (p.Asp356=) c.225T= (p.Asp75=) n.507T= c.975T= (p.Asp325=) c.1203T= (p.Asp401=) c.1110T= (p.Asp370=) | |
X | g.19359549C>A | CA412396630 | PDHA1 | c.1090C>A (p.Pro364Thr) c.*761C>A (n.*761C>A) c.1153C>A (p.Pro385Thr) c.1183C>A (p.Pro395Thr) n.864C>A c.*401C>A (n.*401C>A) c.*524C>A (n.*524C>A) c.1069C>A (p.Pro357Thr) c.226C>A (p.Pro76Thr) n.508C>A c.976C>A (p.Pro326Thr) c.1204C>A (p.Pro402Thr) c.1111C>A (p.Pro371Thr) | |
X | g.19359549C>G | CA412396633 | PDHA1 | c.1090C>G (p.Pro364Ala) c.*761C>G (n.*761C>G) c.1153C>G (p.Pro385Ala) c.1183C>G (p.Pro395Ala) n.864C>G c.*401C>G (n.*401C>G) c.*524C>G (n.*524C>G) c.1069C>G (p.Pro357Ala) c.226C>G (p.Pro76Ala) n.508C>G c.976C>G (p.Pro326Ala) c.1204C>G (p.Pro402Ala) c.1111C>G (p.Pro371Ala) | ClinVar dbSNP |
X | g.19359549C>T | CA412396635 | PDHA1 | c.1090C>T (p.Pro364Ser) c.*761C>T (n.*761C>T) c.1153C>T (p.Pro385Ser) c.1183C>T (p.Pro395Ser) n.864C>T c.*401C>T (n.*401C>T) c.*524C>T (n.*524C>T) c.1069C>T (p.Pro357Ser) c.226C>T (p.Pro76Ser) n.508C>T c.976C>T (p.Pro326Ser) c.1204C>T (p.Pro402Ser) c.1111C>T (p.Pro371Ser) | |
X | g.19359549_19359569delinsCCTGAGCCACCTTTGGAAGAG | CA2418225587 | PDHA1 | c.1090_1110delinsCCTGAGCCACCTTTGGAAGAG (p.Pro364=) c.*761_*781delinsCCTGAGCCACCTTTGGAAGAG (n.*761_*781delinsCCTGAGCCACCTTTGGAAGAG) c.1153_1173delinsCCTGAGCCACCTTTGGAAGAG (p.Pro385=) c.1183_1203delinsCCTGAGCCACCTTTGGAAGAG (p.Pro395=) n.864_884delinsCCTGAGCCACCTTTGGAAGAG c.*401_*421delinsCCTGAGCCACCTTTGGAAGAG (n.*401_*421delinsCCTGAGCCACCTTTGGAAGAG) c.*524_*544delinsCCTGAGCCACCTTTGGAAGAG (n.*524_*544delinsCCTGAGCCACCTTTGGAAGAG) c.1069_1089delinsCCTGAGCCACCTTTGGAAGAG (p.Pro357=) c.226_246delinsCCTGAGCCACCTTTGGAAGAG (p.Pro76=) n.508_528delinsCCTGAGCCACCTTTGGAAGAG c.976_996delinsCCTGAGCCACCTTTGGAAGAG (p.Pro326=) c.1204_1224delinsCCTGAGCCACCTTTGGAAGAG (p.Pro402=) c.1111_1131delinsCCTGAGCCACCTTTGGAAGAG (p.Pro371=) | |
X | g.19359550C>A | CA412396638 | PDHA1 | c.1091C>A (p.Pro364His) c.*762C>A (n.*762C>A) c.1154C>A (p.Pro385His) c.1184C>A (p.Pro395His) n.865C>A c.*402C>A (n.*402C>A) c.*525C>A (n.*525C>A) c.1070C>A (p.Pro357His) c.227C>A (p.Pro76His) n.509C>A c.977C>A (p.Pro326His) c.1205C>A (p.Pro402His) c.1112C>A (p.Pro371His) | |
X | g.19359550C>G | CA412396639 | PDHA1 | c.1091C>G (p.Pro364Arg) c.*762C>G (n.*762C>G) c.1154C>G (p.Pro385Arg) c.1184C>G (p.Pro395Arg) n.865C>G c.*402C>G (n.*402C>G) c.*525C>G (n.*525C>G) c.1070C>G (p.Pro357Arg) c.227C>G (p.Pro76Arg) n.509C>G c.977C>G (p.Pro326Arg) c.1205C>G (p.Pro402Arg) c.1112C>G (p.Pro371Arg) | |
X | g.19359550C>T | CA412396642 | PDHA1 | c.1091C>T (p.Pro364Leu) c.*762C>T (n.*762C>T) c.1154C>T (p.Pro385Leu) c.1184C>T (p.Pro395Leu) n.865C>T c.*402C>T (n.*402C>T) c.*525C>T (n.*525C>T) c.1070C>T (p.Pro357Leu) c.227C>T (p.Pro76Leu) n.509C>T c.977C>T (p.Pro326Leu) c.1205C>T (p.Pro402Leu) c.1112C>T (p.Pro371Leu) | |
X | g.19359553_19359572del | CA121210 | PDHA1 | c.1094_1113del (p.Glu365GlyfsTer12) c.*765_*784del (n.*765_*784del) c.1157_1176del (p.Glu386GlyfsTer12) c.1187_1206del (p.Glu396GlyfsTer12) n.868_887del c.*405_*424del (n.*405_*424del) c.*528_*547del (n.*528_*547del) c.1073_1092del (p.Glu358GlyfsTer12) c.230_249del (p.Glu77GlyfsTer12) n.512_531del c.980_999del (p.Glu327GlyfsTer12) c.1208_1227del (p.Glu403GlyfsTer12) c.1115_1134del (p.Glu372GlyfsTer12) | ClinVar dbSNP |
X | g.19359551T>A | CA515486435 | PDHA1 | c.1092T>A (p.Pro364=) c.*763T>A (n.*763T>A) c.1155T>A (p.Pro385=) c.1185T>A (p.Pro395=) n.866T>A c.*403T>A (n.*403T>A) c.*526T>A (n.*526T>A) c.1071T>A (p.Pro357=) c.228T>A (p.Pro76=) n.510T>A c.978T>A (p.Pro326=) c.1206T>A (p.Pro402=) c.1113T>A (p.Pro371=) | |
X | g.19359551T>C | CA515486436 | PDHA1 | c.1092T>C (p.Pro364=) c.*763T>C (n.*763T>C) c.1155T>C (p.Pro385=) c.1185T>C (p.Pro395=) n.866T>C c.*403T>C (n.*403T>C) c.*526T>C (n.*526T>C) c.1071T>C (p.Pro357=) c.228T>C (p.Pro76=) n.510T>C c.978T>C (p.Pro326=) c.1206T>C (p.Pro402=) c.1113T>C (p.Pro371=) | gnomAD v4 |
X | g.19359551T>G | CA515486437 | PDHA1 | c.1092T>G (p.Pro364=) c.*763T>G (n.*763T>G) c.1155T>G (p.Pro385=) c.1185T>G (p.Pro395=) n.866T>G c.*403T>G (n.*403T>G) c.*526T>G (n.*526T>G) c.1071T>G (p.Pro357=) c.228T>G (p.Pro76=) n.510T>G c.978T>G (p.Pro326=) c.1206T>G (p.Pro402=) c.1113T>G (p.Pro371=) | |
X | g.19359551_19359568dup | CA2695231670 | PDHA1 | c.1092_1109dup (p.Glu369_Glu370insAspGluProProLeuGlu) c.*763_*780dup (n.*763_*780dup) c.1155_1172dup (p.Glu390_Glu391insAspGluProProLeuGlu) c.1185_1202dup (p.Glu400_Glu401insAspGluProProLeuGlu) n.866_883dup c.*403_*420dup (n.*403_*420dup) c.*526_*543dup (n.*526_*543dup) c.1071_1088dup (p.Glu362_Glu363insAspGluProProLeuGlu) c.228_245dup (p.Glu81_Glu82insAspGluProProLeuGlu) n.510_527dup c.978_995dup (p.Glu331_Glu332insAspGluProProLeuGlu) c.1206_1223dup (p.Glu407_Glu408insAspGluProProLeuGlu) c.1113_1130dup (p.Glu376_Glu377insAspGluProProLeuGlu) | |
X | g.19359552G>A | CA412396646 | PDHA1 | c.1093G>A (p.Glu365Lys) c.*764G>A (n.*764G>A) c.1156G>A (p.Glu386Lys) c.1186G>A (p.Glu396Lys) n.867G>A c.*404G>A (n.*404G>A) c.*527G>A (n.*527G>A) c.1072G>A (p.Glu358Lys) c.229G>A (p.Glu77Lys) n.511G>A c.979G>A (p.Glu327Lys) c.1207G>A (p.Glu403Lys) c.1114G>A (p.Glu372Lys) | ClinVar dbSNP |
X | g.19359552G>C | CA412396650 | PDHA1 | c.1093G>C (p.Glu365Gln) c.*764G>C (n.*764G>C) c.1156G>C (p.Glu386Gln) c.1186G>C (p.Glu396Gln) n.867G>C c.*404G>C (n.*404G>C) c.*527G>C (n.*527G>C) c.1072G>C (p.Glu358Gln) c.229G>C (p.Glu77Gln) n.511G>C c.979G>C (p.Glu327Gln) c.1207G>C (p.Glu403Gln) c.1114G>C (p.Glu372Gln) | |
X | g.19359552G>T | CA412396648 | PDHA1 | c.1093G>T (p.Glu365Ter) c.*764G>T (n.*764G>T) c.1156G>T (p.Glu386Ter) c.1186G>T (p.Glu396Ter) n.867G>T c.*404G>T (n.*404G>T) c.*527G>T (n.*527G>T) c.1072G>T (p.Glu358Ter) c.229G>T (p.Glu77Ter) n.511G>T c.979G>T (p.Glu327Ter) c.1207G>T (p.Glu403Ter) c.1114G>T (p.Glu372Ter) | |
X | g.19359553A= | CA2418225588 | PDHA1 | c.1094A= (p.Glu365=) c.*765A= (n.*765A=) c.1157A= (p.Glu386=) c.1187A= (p.Glu396=) n.868A= c.*405A= (n.*405A=) c.*528A= (n.*528A=) c.1073A= (p.Glu358=) c.230A= (p.Glu77=) n.512A= c.980A= (p.Glu327=) c.1208A= (p.Glu403=) c.1115A= (p.Glu372=) | |
X | g.19359553A>C | CA412396652 | PDHA1 | c.1094A>C (p.Glu365Ala) c.*765A>C (n.*765A>C) c.1157A>C (p.Glu386Ala) c.1187A>C (p.Glu396Ala) n.868A>C c.*405A>C (n.*405A>C) c.*528A>C (n.*528A>C) c.1073A>C (p.Glu358Ala) c.230A>C (p.Glu77Ala) n.512A>C c.980A>C (p.Glu327Ala) c.1208A>C (p.Glu403Ala) c.1115A>C (p.Glu372Ala) | |
X | g.19359553A>G | CA412396654 | PDHA1 | c.1094A>G (p.Glu365Gly) c.*765A>G (n.*765A>G) c.1157A>G (p.Glu386Gly) c.1187A>G (p.Glu396Gly) n.868A>G c.*405A>G (n.*405A>G) c.*528A>G (n.*528A>G) c.1073A>G (p.Glu358Gly) c.230A>G (p.Glu77Gly) n.512A>G c.980A>G (p.Glu327Gly) c.1208A>G (p.Glu403Gly) c.1115A>G (p.Glu372Gly) | |
X | g.19359553A>T | CA412396656 | PDHA1 | c.1094A>T (p.Glu365Val) c.*765A>T (n.*765A>T) c.1157A>T (p.Glu386Val) c.1187A>T (p.Glu396Val) n.868A>T c.*405A>T (n.*405A>T) c.*528A>T (n.*528A>T) c.1073A>T (p.Glu358Val) c.230A>T (p.Glu77Val) n.512A>T c.980A>T (p.Glu327Val) c.1208A>T (p.Glu403Val) c.1115A>T (p.Glu372Val) | |
X | g.19359554G>A | CA515486438 | PDHA1 | c.1095G>A (p.Glu365=) c.*766G>A (n.*766G>A) c.1158G>A (p.Glu386=) c.1188G>A (p.Glu396=) n.869G>A c.*406G>A (n.*406G>A) c.*529G>A (n.*529G>A) c.1074G>A (p.Glu358=) c.231G>A (p.Glu77=) n.513G>A c.981G>A (p.Glu327=) c.1209G>A (p.Glu403=) c.1116G>A (p.Glu372=) | |
X | g.19359554G>C | CA412396664 | PDHA1 | c.1095G>C (p.Glu365Asp) c.*766G>C (n.*766G>C) c.1158G>C (p.Glu386Asp) c.1188G>C (p.Glu396Asp) n.869G>C c.*406G>C (n.*406G>C) c.*529G>C (n.*529G>C) c.1074G>C (p.Glu358Asp) c.231G>C (p.Glu77Asp) n.513G>C c.981G>C (p.Glu327Asp) c.1209G>C (p.Glu403Asp) c.1116G>C (p.Glu372Asp) | |
X | g.19359554G>T | CA412396660 | PDHA1 | c.1095G>T (p.Glu365Asp) c.*766G>T (n.*766G>T) c.1158G>T (p.Glu386Asp) c.1188G>T (p.Glu396Asp) n.869G>T c.*406G>T (n.*406G>T) c.*529G>T (n.*529G>T) c.1074G>T (p.Glu358Asp) c.231G>T (p.Glu77Asp) n.513G>T c.981G>T (p.Glu327Asp) c.1209G>T (p.Glu403Asp) c.1116G>T (p.Glu372Asp) | |
X | g.19359554_19359589dup | CA121224 | PDHA1 | c.1095_1130dup (p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrHisIleTyrSer) c.*766_*801dup (n.*766_*801dup) c.1158_1193dup (p.Ser398_Ser399insProProLeuGluGluLeuGlyTyrHisIleTyrSer) c.1188_1223dup (p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrHisIleTyrSer) n.869_904dup c.*406_*441dup (n.*406_*441dup) c.*529_*564dup (n.*529_*564dup) c.1074_1109dup (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer) c.231_266dup (p.Ser89_Ser90insProProLeuGluGluLeuGlyTyrHisIleTyrSer) n.513_548dup c.981_1016dup (p.Ser339_Ser340insProProLeuGluGluLeuGlyTyrHisIleTyrSer) c.1209_1244dup (p.Ser415_Ser416insProProLeuGluGluLeuGlyTyrHisIleTyrSer) c.1116_1151dup (p.Ser384_Ser385insProProLeuGluGluLeuGlyTyrHisIleTyrSer) | ClinVar dbSNP |
X | g.19359555C>A | CA412396669 | PDHA1 | c.1096C>A (p.Pro366Thr) c.*767C>A (n.*767C>A) c.1159C>A (p.Pro387Thr) c.1189C>A (p.Pro397Thr) n.870C>A c.*407C>A (n.*407C>A) c.*530C>A (n.*530C>A) c.1075C>A (p.Pro359Thr) c.232C>A (p.Pro78Thr) n.514C>A c.982C>A (p.Pro328Thr) c.1210C>A (p.Pro404Thr) c.1117C>A (p.Pro373Thr) | |
X | g.19359555C>G | CA412396675 | PDHA1 | c.1096C>G (p.Pro366Ala) c.*767C>G (n.*767C>G) c.1159C>G (p.Pro387Ala) c.1189C>G (p.Pro397Ala) n.870C>G c.*407C>G (n.*407C>G) c.*530C>G (n.*530C>G) c.1075C>G (p.Pro359Ala) c.232C>G (p.Pro78Ala) n.514C>G c.982C>G (p.Pro328Ala) c.1210C>G (p.Pro404Ala) c.1117C>G (p.Pro373Ala) | |
X | g.19359555C>T | CA412396672 | PDHA1 | c.1096C>T (p.Pro366Ser) c.*767C>T (n.*767C>T) c.1159C>T (p.Pro387Ser) c.1189C>T (p.Pro397Ser) n.870C>T c.*407C>T (n.*407C>T) c.*530C>T (n.*530C>T) c.1075C>T (p.Pro359Ser) c.232C>T (p.Pro78Ser) n.514C>T c.982C>T (p.Pro328Ser) c.1210C>T (p.Pro404Ser) c.1117C>T (p.Pro373Ser) | |
X | g.19359556C>A | CA412396678 | PDHA1 | c.1097C>A (p.Pro366Gln) c.*768C>A (n.*768C>A) c.1160C>A (p.Pro387Gln) c.1190C>A (p.Pro397Gln) n.871C>A c.*408C>A (n.*408C>A) c.*531C>A (n.*531C>A) c.1076C>A (p.Pro359Gln) c.233C>A (p.Pro78Gln) n.515C>A c.983C>A (p.Pro328Gln) c.1211C>A (p.Pro404Gln) c.1118C>A (p.Pro373Gln) | |
X | g.19359556C>G | CA412396684 | PDHA1 | c.1097C>G (p.Pro366Arg) c.*768C>G (n.*768C>G) c.1160C>G (p.Pro387Arg) c.1190C>G (p.Pro397Arg) n.871C>G c.*408C>G (n.*408C>G) c.*531C>G (n.*531C>G) c.1076C>G (p.Pro359Arg) c.233C>G (p.Pro78Arg) n.515C>G c.983C>G (p.Pro328Arg) c.1211C>G (p.Pro404Arg) c.1118C>G (p.Pro373Arg) | |
X | g.19359556C>T | CA412396681 | PDHA1 | c.1097C>T (p.Pro366Leu) c.*768C>T (n.*768C>T) c.1160C>T (p.Pro387Leu) c.1190C>T (p.Pro397Leu) n.871C>T c.*408C>T (n.*408C>T) c.*531C>T (n.*531C>T) c.1076C>T (p.Pro359Leu) c.233C>T (p.Pro78Leu) n.515C>T c.983C>T (p.Pro328Leu) c.1211C>T (p.Pro404Leu) c.1118C>T (p.Pro373Leu) | |
X | g.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCT | CA2418225589 | PDHA1 | c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT (p.Pro366=) c.*768_*788delinsCACCTTTGGAAGAGCTGGGCT (n.*768_*788delinsCACCTTTGGAAGAGCTGGGCT) c.1160_1180delinsCACCTTTGGAAGAGCTGGGCT (p.Pro387=) c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT (p.Pro397=) n.871_891delinsCACCTTTGGAAGAGCTGGGCT c.*408_*428delinsCACCTTTGGAAGAGCTGGGCT (n.*408_*428delinsCACCTTTGGAAGAGCTGGGCT) c.*531_*551delinsCACCTTTGGAAGAGCTGGGCT (n.*531_*551delinsCACCTTTGGAAGAGCTGGGCT) c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT (p.Pro359=) c.233_253delinsCACCTTTGGAAGAGCTGGGCT (p.Pro78=) n.515_535delinsCACCTTTGGAAGAGCTGGGCT c.983_1003delinsCACCTTTGGAAGAGCTGGGCT (p.Pro328=) c.1211_1231delinsCACCTTTGGAAGAGCTGGGCT (p.Pro404=) c.1118_1138delinsCACCTTTGGAAGAGCTGGGCT (p.Pro373=) | |
X | g.19359557A>C | CA515486439 | PDHA1 | c.1098A>C (p.Pro366=) c.*769A>C (n.*769A>C) c.1161A>C (p.Pro387=) c.1191A>C (p.Pro397=) n.872A>C c.*409A>C (n.*409A>C) c.*532A>C (n.*532A>C) c.1077A>C (p.Pro359=) c.234A>C (p.Pro78=) n.516A>C c.984A>C (p.Pro328=) c.1212A>C (p.Pro404=) c.1119A>C (p.Pro373=) | |
X | g.19359557A>G | CA515486440 | PDHA1 | c.1098A>G (p.Pro366=) c.*769A>G (n.*769A>G) c.1161A>G (p.Pro387=) c.1191A>G (p.Pro397=) n.872A>G c.*409A>G (n.*409A>G) c.*532A>G (n.*532A>G) c.1077A>G (p.Pro359=) c.234A>G (p.Pro78=) n.516A>G c.984A>G (p.Pro328=) c.1212A>G (p.Pro404=) c.1119A>G (p.Pro373=) | gnomAD v4 |
X | g.19359557A>T | CA515486441 | PDHA1 | c.1098A>T (p.Pro366=) c.*769A>T (n.*769A>T) c.1161A>T (p.Pro387=) c.1191A>T (p.Pro397=) n.872A>T c.*409A>T (n.*409A>T) c.*532A>T (n.*532A>T) c.1077A>T (p.Pro359=) c.234A>T (p.Pro78=) n.516A>T c.984A>T (p.Pro328=) c.1212A>T (p.Pro404=) c.1119A>T (p.Pro373=) | |
X | g.19359560_19359579del | CA1139667332 | PDHA1 | c.1101_1120del (p.Leu368HisfsTer9) c.*772_*791del (n.*772_*791del) c.1164_1183del (p.Leu389HisfsTer9) c.1194_1213del (p.Leu399HisfsTer9) n.875_894del c.*412_*431del (n.*412_*431del) c.*535_*554del (n.*535_*554del) c.1080_1099del (p.Leu361HisfsTer9) c.237_256del (p.Leu80HisfsTer9) n.519_538del c.987_1006del (p.Leu330HisfsTer9) c.1215_1234del (p.Leu406HisfsTer9) c.1122_1141del (p.Leu375HisfsTer9) | ClinVar dbSNP |
X | g.19359558C>A | CA412396689 | PDHA1 | c.1099C>A (p.Pro367Thr) c.*770C>A (n.*770C>A) c.1162C>A (p.Pro388Thr) c.1192C>A (p.Pro398Thr) n.873C>A c.*410C>A (n.*410C>A) c.*533C>A (n.*533C>A) c.1078C>A (p.Pro360Thr) c.235C>A (p.Pro79Thr) n.517C>A c.985C>A (p.Pro329Thr) c.1213C>A (p.Pro405Thr) c.1120C>A (p.Pro374Thr) | |
X | g.19359558C>G | CA412396694 | PDHA1 | c.1099C>G (p.Pro367Ala) c.*770C>G (n.*770C>G) c.1162C>G (p.Pro388Ala) c.1192C>G (p.Pro398Ala) n.873C>G c.*410C>G (n.*410C>G) c.*533C>G (n.*533C>G) c.1078C>G (p.Pro360Ala) c.235C>G (p.Pro79Ala) n.517C>G c.985C>G (p.Pro329Ala) c.1213C>G (p.Pro405Ala) c.1120C>G (p.Pro374Ala) | |
X | g.19359558C>T | CA412396692 | PDHA1 | c.1099C>T (p.Pro367Ser) c.*770C>T (n.*770C>T) c.1162C>T (p.Pro388Ser) c.1192C>T (p.Pro398Ser) n.873C>T c.*410C>T (n.*410C>T) c.*533C>T (n.*533C>T) c.1078C>T (p.Pro360Ser) c.235C>T (p.Pro79Ser) n.517C>T c.985C>T (p.Pro329Ser) c.1213C>T (p.Pro405Ser) c.1120C>T (p.Pro374Ser) | |
X | g.19359559C>A | CA412396697 | PDHA1 | c.1100C>A (p.Pro367His) c.*771C>A (n.*771C>A) c.1163C>A (p.Pro388His) c.1193C>A (p.Pro398His) n.874C>A c.*411C>A (n.*411C>A) c.*534C>A (n.*534C>A) c.1079C>A (p.Pro360His) c.236C>A (p.Pro79His) n.518C>A c.986C>A (p.Pro329His) c.1214C>A (p.Pro405His) c.1121C>A (p.Pro374His) | |
X | g.19359559C>G | CA412396700 | PDHA1 | c.1100C>G (p.Pro367Arg) c.*771C>G (n.*771C>G) c.1163C>G (p.Pro388Arg) c.1193C>G (p.Pro398Arg) n.874C>G c.*411C>G (n.*411C>G) c.*534C>G (n.*534C>G) c.1079C>G (p.Pro360Arg) c.236C>G (p.Pro79Arg) n.518C>G c.986C>G (p.Pro329Arg) c.1214C>G (p.Pro405Arg) c.1121C>G (p.Pro374Arg) | |
X | g.19359559C>T | CA412396704 | PDHA1 | c.1100C>T (p.Pro367Leu) c.*771C>T (n.*771C>T) c.1163C>T (p.Pro388Leu) c.1193C>T (p.Pro398Leu) n.874C>T c.*411C>T (n.*411C>T) c.*534C>T (n.*534C>T) c.1079C>T (p.Pro360Leu) c.236C>T (p.Pro79Leu) n.518C>T c.986C>T (p.Pro329Leu) c.1214C>T (p.Pro405Leu) c.1121C>T (p.Pro374Leu) | |
X | g.19359560T>A | CA515486442 | PDHA1 | c.1101T>A (p.Pro367=) c.*772T>A (n.*772T>A) c.1164T>A (p.Pro388=) c.1194T>A (p.Pro398=) n.875T>A c.*412T>A (n.*412T>A) c.*535T>A (n.*535T>A) c.1080T>A (p.Pro360=) c.237T>A (p.Pro79=) n.519T>A c.987T>A (p.Pro329=) c.1215T>A (p.Pro405=) c.1122T>A (p.Pro374=) | |
X | g.19359560T>C | CA515486443 | PDHA1 | c.1101T>C (p.Pro367=) c.*772T>C (n.*772T>C) c.1164T>C (p.Pro388=) c.1194T>C (p.Pro398=) n.875T>C c.*412T>C (n.*412T>C) c.*535T>C (n.*535T>C) c.1080T>C (p.Pro360=) c.237T>C (p.Pro79=) n.519T>C c.987T>C (p.Pro329=) c.1215T>C (p.Pro405=) c.1122T>C (p.Pro374=) | |
X | g.19359560T>G | CA515486444 | PDHA1 | c.1101T>G (p.Pro367=) c.*772T>G (n.*772T>G) c.1164T>G (p.Pro388=) c.1194T>G (p.Pro398=) n.875T>G c.*412T>G (n.*412T>G) c.*535T>G (n.*535T>G) c.1080T>G (p.Pro360=) c.237T>G (p.Pro79=) n.519T>G c.987T>G (p.Pro329=) c.1215T>G (p.Pro405=) c.1122T>G (p.Pro374=) | |
X | g.19359561T>A | CA412396713 | PDHA1 | c.1102T>A (p.Leu368Met) c.*773T>A (n.*773T>A) c.1165T>A (p.Leu389Met) c.1195T>A (p.Leu399Met) n.876T>A c.*413T>A (n.*413T>A) c.*536T>A (n.*536T>A) c.1081T>A (p.Leu361Met) c.238T>A (p.Leu80Met) n.520T>A c.988T>A (p.Leu330Met) c.1216T>A (p.Leu406Met) c.1123T>A (p.Leu375Met) | |
X | g.19359561T>C | CA515486445 | PDHA1 | c.1102T>C (p.Leu368=) c.*773T>C (n.*773T>C) c.1165T>C (p.Leu389=) c.1195T>C (p.Leu399=) n.876T>C c.*413T>C (n.*413T>C) c.*536T>C (n.*536T>C) c.1081T>C (p.Leu361=) c.238T>C (p.Leu80=) n.520T>C c.988T>C (p.Leu330=) c.1216T>C (p.Leu406=) c.1123T>C (p.Leu375=) | |
X | g.19359561T>G | CA412396714 | PDHA1 | c.1102T>G (p.Leu368Val) c.*773T>G (n.*773T>G) c.1165T>G (p.Leu389Val) c.1195T>G (p.Leu399Val) n.876T>G c.*413T>G (n.*413T>G) c.*536T>G (n.*536T>G) c.1081T>G (p.Leu361Val) c.238T>G (p.Leu80Val) n.520T>G c.988T>G (p.Leu330Val) c.1216T>G (p.Leu406Val) c.1123T>G (p.Leu375Val) | |
X | g.19359562T>A | CA412396719 | PDHA1 | c.1103T>A (p.Leu368Ter) c.*774T>A (n.*774T>A) c.1166T>A (p.Leu389Ter) c.1196T>A (p.Leu399Ter) n.877T>A c.*414T>A (n.*414T>A) c.*537T>A (n.*537T>A) c.1082T>A (p.Leu361Ter) c.239T>A (p.Leu80Ter) n.521T>A c.989T>A (p.Leu330Ter) c.1217T>A (p.Leu406Ter) c.1124T>A (p.Leu375Ter) | |
X | g.19359562T>C | CA412396721 | PDHA1 | c.1103T>C (p.Leu368Ser) c.*774T>C (n.*774T>C) c.1166T>C (p.Leu389Ser) c.1196T>C (p.Leu399Ser) n.877T>C c.*414T>C (n.*414T>C) c.*537T>C (n.*537T>C) c.1082T>C (p.Leu361Ser) c.239T>C (p.Leu80Ser) n.521T>C c.989T>C (p.Leu330Ser) c.1217T>C (p.Leu406Ser) c.1124T>C (p.Leu375Ser) | |
X | g.19359562T>G | CA412396722 | PDHA1 | c.1103T>G (p.Leu368Trp) c.*774T>G (n.*774T>G) c.1166T>G (p.Leu389Trp) c.1196T>G (p.Leu399Trp) n.877T>G c.*414T>G (n.*414T>G) c.*537T>G (n.*537T>G) c.1082T>G (p.Leu361Trp) c.239T>G (p.Leu80Trp) n.521T>G c.989T>G (p.Leu330Trp) c.1217T>G (p.Leu406Trp) c.1124T>G (p.Leu375Trp) | |
X | g.19359563G>A | CA10363210 | PDHA1 | c.1104G>A (p.Leu368=) c.*775G>A (n.*775G>A) c.1167G>A (p.Leu389=) c.1197G>A (p.Leu399=) n.878G>A c.*415G>A (n.*415G>A) c.*538G>A (n.*538G>A) c.1083G>A (p.Leu361=) c.240G>A (p.Leu80=) n.522G>A c.990G>A (p.Leu330=) c.1218G>A (p.Leu406=) c.1125G>A (p.Leu375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359563G>C | CA412396728 | PDHA1 | c.1104G>C (p.Leu368Phe) c.*775G>C (n.*775G>C) c.1167G>C (p.Leu389Phe) c.1197G>C (p.Leu399Phe) n.878G>C c.*415G>C (n.*415G>C) c.*538G>C (n.*538G>C) c.1083G>C (p.Leu361Phe) c.240G>C (p.Leu80Phe) n.522G>C c.990G>C (p.Leu330Phe) c.1218G>C (p.Leu406Phe) c.1125G>C (p.Leu375Phe) | |
X | g.19359563G= | CA2418225590 | PDHA1 | c.1104G= (p.Leu368=) c.*775G= (n.*775G=) c.1167G= (p.Leu389=) c.1197G= (p.Leu399=) n.878G= c.*415G= (n.*415G=) c.*538G= (n.*538G=) c.1083G= (p.Leu361=) c.240G= (p.Leu80=) n.522G= c.990G= (p.Leu330=) c.1218G= (p.Leu406=) c.1125G= (p.Leu375=) | |
X | g.19359563G>T | CA412396732 | PDHA1 | c.1104G>T (p.Leu368Phe) c.*775G>T (n.*775G>T) c.1167G>T (p.Leu389Phe) c.1197G>T (p.Leu399Phe) n.878G>T c.*415G>T (n.*415G>T) c.*538G>T (n.*538G>T) c.1083G>T (p.Leu361Phe) c.240G>T (p.Leu80Phe) n.522G>T c.990G>T (p.Leu330Phe) c.1218G>T (p.Leu406Phe) c.1125G>T (p.Leu375Phe) | |
X | g.19359563_19359582dup | CA2695231671 | PDHA1 | c.1104_1123dup (p.Ile375ArgfsTer?) c.*775_*794dup (n.*775_*794dup) c.1167_1186dup (p.Ile396ArgfsTer?) c.1197_1216dup (p.Ile406ArgfsTer?) n.878_897dup c.*415_*434dup (n.*415_*434dup) c.*538_*557dup (n.*538_*557dup) c.1083_1102dup (p.Ile368ArgfsTer?) c.240_259dup (p.Ile87ArgfsTer?) n.522_541dup c.990_1009dup (p.Ile337ArgfsTer?) c.1218_1237dup (p.Ile413ArgfsTer?) c.1125_1144dup (p.Ile382ArgfsTer?) | |
X | g.19359564G>A | CA412396741 | PDHA1 | c.1105G>A (p.Glu369Lys) c.*776G>A (n.*776G>A) c.1168G>A (p.Glu390Lys) c.1198G>A (p.Glu400Lys) n.879G>A c.*416G>A (n.*416G>A) c.*539G>A (n.*539G>A) c.1084G>A (p.Glu362Lys) c.241G>A (p.Glu81Lys) n.523G>A c.991G>A (p.Glu331Lys) c.1219G>A (p.Glu407Lys) c.1126G>A (p.Glu376Lys) | |
X | g.19359564G>C | CA412396735 | PDHA1 | c.1105G>C (p.Glu369Gln) c.*776G>C (n.*776G>C) c.1168G>C (p.Glu390Gln) c.1198G>C (p.Glu400Gln) n.879G>C c.*416G>C (n.*416G>C) c.*539G>C (n.*539G>C) c.1084G>C (p.Glu362Gln) c.241G>C (p.Glu81Gln) n.523G>C c.991G>C (p.Glu331Gln) c.1219G>C (p.Glu407Gln) c.1126G>C (p.Glu376Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359564G= | CA2418225591 | PDHA1 | c.1105G= (p.Glu369=) c.*776G= (n.*776G=) c.1168G= (p.Glu390=) c.1198G= (p.Glu400=) n.879G= c.*416G= (n.*416G=) c.*539G= (n.*539G=) c.1084G= (p.Glu362=) c.241G= (p.Glu81=) n.523G= c.991G= (p.Glu331=) c.1219G= (p.Glu407=) c.1126G= (p.Glu376=) | |
X | g.19359564G>T | CA412396738 | PDHA1 | c.1105G>T (p.Glu369Ter) c.*776G>T (n.*776G>T) c.1168G>T (p.Glu390Ter) c.1198G>T (p.Glu400Ter) n.879G>T c.*416G>T (n.*416G>T) c.*539G>T (n.*539G>T) c.1084G>T (p.Glu362Ter) c.241G>T (p.Glu81Ter) n.523G>T c.991G>T (p.Glu331Ter) c.1219G>T (p.Glu407Ter) c.1126G>T (p.Glu376Ter) | |
X | g.19359565A>C | CA412396746 | PDHA1 | c.1106A>C (p.Glu369Ala) c.*777A>C (n.*777A>C) c.1169A>C (p.Glu390Ala) c.1199A>C (p.Glu400Ala) n.880A>C c.*417A>C (n.*417A>C) c.*540A>C (n.*540A>C) c.1085A>C (p.Glu362Ala) c.242A>C (p.Glu81Ala) n.524A>C c.992A>C (p.Glu331Ala) c.1220A>C (p.Glu407Ala) c.1127A>C (p.Glu376Ala) | |
X | g.19359565A>G | CA412396748 | PDHA1 | c.1106A>G (p.Glu369Gly) c.*777A>G (n.*777A>G) c.1169A>G (p.Glu390Gly) c.1199A>G (p.Glu400Gly) n.880A>G c.*417A>G (n.*417A>G) c.*540A>G (n.*540A>G) c.1085A>G (p.Glu362Gly) c.242A>G (p.Glu81Gly) n.524A>G c.992A>G (p.Glu331Gly) c.1220A>G (p.Glu407Gly) c.1127A>G (p.Glu376Gly) | |
X | g.19359565A>T | CA412396752 | PDHA1 | c.1106A>T (p.Glu369Val) c.*777A>T (n.*777A>T) c.1169A>T (p.Glu390Val) c.1199A>T (p.Glu400Val) n.880A>T c.*417A>T (n.*417A>T) c.*540A>T (n.*540A>T) c.1085A>T (p.Glu362Val) c.242A>T (p.Glu81Val) n.524A>T c.992A>T (p.Glu331Val) c.1220A>T (p.Glu407Val) c.1127A>T (p.Glu376Val) | |
X | g.19359566A>C | CA412396753 | PDHA1 | c.1107A>C (p.Glu369Asp) c.*778A>C (n.*778A>C) c.1170A>C (p.Glu390Asp) c.1200A>C (p.Glu400Asp) n.881A>C c.*418A>C (n.*418A>C) c.*541A>C (n.*541A>C) c.1086A>C (p.Glu362Asp) c.243A>C (p.Glu81Asp) n.525A>C c.993A>C (p.Glu331Asp) c.1221A>C (p.Glu407Asp) c.1128A>C (p.Glu376Asp) | |
X | g.19359566A>G | CA515486446 | PDHA1 | c.1107A>G (p.Glu369=) c.*778A>G (n.*778A>G) c.1170A>G (p.Glu390=) c.1200A>G (p.Glu400=) n.881A>G c.*418A>G (n.*418A>G) c.*541A>G (n.*541A>G) c.1086A>G (p.Glu362=) c.243A>G (p.Glu81=) n.525A>G c.993A>G (p.Glu331=) c.1221A>G (p.Glu407=) c.1128A>G (p.Glu376=) | |
X | g.19359566A>T | CA412396756 | PDHA1 | c.1107A>T (p.Glu369Asp) c.*778A>T (n.*778A>T) c.1170A>T (p.Glu390Asp) c.1200A>T (p.Glu400Asp) n.881A>T c.*418A>T (n.*418A>T) c.*541A>T (n.*541A>T) c.1086A>T (p.Glu362Asp) c.243A>T (p.Glu81Asp) n.525A>T c.993A>T (p.Glu331Asp) c.1221A>T (p.Glu407Asp) c.1128A>T (p.Glu376Asp) | |
X | g.19359567G>A | CA412396760 | PDHA1 | c.1108G>A (p.Glu370Lys) c.*779G>A (n.*779G>A) c.1171G>A (p.Glu391Lys) c.1201G>A (p.Glu401Lys) n.882G>A c.*419G>A (n.*419G>A) c.*542G>A (n.*542G>A) c.1087G>A (p.Glu363Lys) c.244G>A (p.Glu82Lys) n.526G>A c.994G>A (p.Glu332Lys) c.1222G>A (p.Glu408Lys) c.1129G>A (p.Glu377Lys) | |
X | g.19359567G>C | CA412396762 | PDHA1 | c.1108G>C (p.Glu370Gln) c.*779G>C (n.*779G>C) c.1171G>C (p.Glu391Gln) c.1201G>C (p.Glu401Gln) n.882G>C c.*419G>C (n.*419G>C) c.*542G>C (n.*542G>C) c.1087G>C (p.Glu363Gln) c.244G>C (p.Glu82Gln) n.526G>C c.994G>C (p.Glu332Gln) c.1222G>C (p.Glu408Gln) c.1129G>C (p.Glu377Gln) | |
X | g.19359567G>T | CA412396765 | PDHA1 | c.1108G>T (p.Glu370Ter) c.*779G>T (n.*779G>T) c.1171G>T (p.Glu391Ter) c.1201G>T (p.Glu401Ter) n.882G>T c.*419G>T (n.*419G>T) c.*542G>T (n.*542G>T) c.1087G>T (p.Glu363Ter) c.244G>T (p.Glu82Ter) n.526G>T c.994G>T (p.Glu332Ter) c.1222G>T (p.Glu408Ter) c.1129G>T (p.Glu377Ter) | |
X | g.19359568A>C | CA412396769 | PDHA1 | c.1109A>C (p.Glu370Ala) c.*780A>C (n.*780A>C) c.1172A>C (p.Glu391Ala) c.1202A>C (p.Glu401Ala) n.883A>C c.*420A>C (n.*420A>C) c.*543A>C (n.*543A>C) c.1088A>C (p.Glu363Ala) c.245A>C (p.Glu82Ala) n.527A>C c.995A>C (p.Glu332Ala) c.1223A>C (p.Glu408Ala) c.1130A>C (p.Glu377Ala) | |
X | g.19359568A>G | CA412396773 | PDHA1 | c.1109A>G (p.Glu370Gly) c.*780A>G (n.*780A>G) c.1172A>G (p.Glu391Gly) c.1202A>G (p.Glu401Gly) n.883A>G c.*420A>G (n.*420A>G) c.*543A>G (n.*543A>G) c.1088A>G (p.Glu363Gly) c.245A>G (p.Glu82Gly) n.527A>G c.995A>G (p.Glu332Gly) c.1223A>G (p.Glu408Gly) c.1130A>G (p.Glu377Gly) | |
X | g.19359568A>T | CA412396776 | PDHA1 | c.1109A>T (p.Glu370Val) c.*780A>T (n.*780A>T) c.1172A>T (p.Glu391Val) c.1202A>T (p.Glu401Val) n.883A>T c.*420A>T (n.*420A>T) c.*543A>T (n.*543A>T) c.1088A>T (p.Glu363Val) c.245A>T (p.Glu82Val) n.527A>T c.995A>T (p.Glu332Val) c.1223A>T (p.Glu408Val) c.1130A>T (p.Glu377Val) | |
X | g.19359569G>A | CA515486447 | PDHA1 | c.1110G>A (p.Glu370=) c.*781G>A (n.*781G>A) c.1173G>A (p.Glu391=) c.1203G>A (p.Glu401=) n.884G>A c.*421G>A (n.*421G>A) c.*544G>A (n.*544G>A) c.1089G>A (p.Glu363=) c.246G>A (p.Glu82=) n.528G>A c.996G>A (p.Glu332=) c.1224G>A (p.Glu408=) c.1131G>A (p.Glu377=) | |
X | g.19359569G>C | CA412396783 | PDHA1 | c.1110G>C (p.Glu370Asp) c.*781G>C (n.*781G>C) c.1173G>C (p.Glu391Asp) c.1203G>C (p.Glu401Asp) n.884G>C c.*421G>C (n.*421G>C) c.*544G>C (n.*544G>C) c.1089G>C (p.Glu363Asp) c.246G>C (p.Glu82Asp) n.528G>C c.996G>C (p.Glu332Asp) c.1224G>C (p.Glu408Asp) c.1131G>C (p.Glu377Asp) | dbSNP gnomAD v2 |
X | g.19359569G= | CA2418225592 | PDHA1 | c.1110G= (p.Glu370=) c.*781G= (n.*781G=) c.1173G= (p.Glu391=) c.1203G= (p.Glu401=) n.884G= c.*421G= (n.*421G=) c.*544G= (n.*544G=) c.1089G= (p.Glu363=) c.246G= (p.Glu82=) n.528G= c.996G= (p.Glu332=) c.1224G= (p.Glu408=) c.1131G= (p.Glu377=) | |
X | g.19359569G>T | CA412396780 | PDHA1 | c.1110G>T (p.Glu370Asp) c.*781G>T (n.*781G>T) c.1173G>T (p.Glu391Asp) c.1203G>T (p.Glu401Asp) n.884G>T c.*421G>T (n.*421G>T) c.*544G>T (n.*544G>T) c.1089G>T (p.Glu363Asp) c.246G>T (p.Glu82Asp) n.528G>T c.996G>T (p.Glu332Asp) c.1224G>T (p.Glu408Asp) c.1131G>T (p.Glu377Asp) | |
X | g.19359570C>A | CA412396786 | PDHA1 | c.1111C>A (p.Leu371Met) c.*782C>A (n.*782C>A) c.1174C>A (p.Leu392Met) c.1204C>A (p.Leu402Met) n.885C>A c.*422C>A (n.*422C>A) c.*545C>A (n.*545C>A) c.1090C>A (p.Leu364Met) c.247C>A (p.Leu83Met) n.529C>A c.997C>A (p.Leu333Met) c.1225C>A (p.Leu409Met) c.1132C>A (p.Leu378Met) | |
X | g.19359570C>G | CA412396800 | PDHA1 | c.1111C>G (p.Leu371Val) c.*782C>G (n.*782C>G) c.1174C>G (p.Leu392Val) c.1204C>G (p.Leu402Val) n.885C>G c.*422C>G (n.*422C>G) c.*545C>G (n.*545C>G) c.1090C>G (p.Leu364Val) c.247C>G (p.Leu83Val) n.529C>G c.997C>G (p.Leu333Val) c.1225C>G (p.Leu409Val) c.1132C>G (p.Leu378Val) | |
X | g.19359570C>T | CA515486448 | PDHA1 | c.1111C>T (p.Leu371=) c.*782C>T (n.*782C>T) c.1174C>T (p.Leu392=) c.1204C>T (p.Leu402=) n.885C>T c.*422C>T (n.*422C>T) c.*545C>T (n.*545C>T) c.1090C>T (p.Leu364=) c.247C>T (p.Leu83=) n.529C>T c.997C>T (p.Leu333=) c.1225C>T (p.Leu409=) c.1132C>T (p.Leu378=) | |
X | g.19359571T>A | CA412396804 | PDHA1 | c.1112T>A (p.Leu371Gln) c.*783T>A (n.*783T>A) c.1175T>A (p.Leu392Gln) c.1205T>A (p.Leu402Gln) n.886T>A c.*423T>A (n.*423T>A) c.*546T>A (n.*546T>A) c.1091T>A (p.Leu364Gln) c.248T>A (p.Leu83Gln) n.530T>A c.998T>A (p.Leu333Gln) c.1226T>A (p.Leu409Gln) c.1133T>A (p.Leu378Gln) | |
X | g.19359571T>C | CA412396807 | PDHA1 | c.1112T>C (p.Leu371Pro) c.*783T>C (n.*783T>C) c.1175T>C (p.Leu392Pro) c.1205T>C (p.Leu402Pro) n.886T>C c.*423T>C (n.*423T>C) c.*546T>C (n.*546T>C) c.1091T>C (p.Leu364Pro) c.248T>C (p.Leu83Pro) n.530T>C c.998T>C (p.Leu333Pro) c.1226T>C (p.Leu409Pro) c.1133T>C (p.Leu378Pro) | |
X | g.19359571T>G | CA412396809 | PDHA1 | c.1112T>G (p.Leu371Arg) c.*783T>G (n.*783T>G) c.1175T>G (p.Leu392Arg) c.1205T>G (p.Leu402Arg) n.886T>G c.*423T>G (n.*423T>G) c.*546T>G (n.*546T>G) c.1091T>G (p.Leu364Arg) c.248T>G (p.Leu83Arg) n.530T>G c.998T>G (p.Leu333Arg) c.1226T>G (p.Leu409Arg) c.1133T>G (p.Leu378Arg) | ClinVar |
X | g.19359572G>A | CA515486451 | PDHA1 | c.1113G>A (p.Leu371=) c.*784G>A (n.*784G>A) c.1176G>A (p.Leu392=) c.1206G>A (p.Leu402=) n.887G>A c.*424G>A (n.*424G>A) c.*547G>A (n.*547G>A) c.1092G>A (p.Leu364=) c.249G>A (p.Leu83=) n.531G>A c.999G>A (p.Leu333=) c.1227G>A (p.Leu409=) c.1134G>A (p.Leu378=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359572G>C | CA515486449 | PDHA1 | c.1113G>C (p.Leu371=) c.*784G>C (n.*784G>C) c.1176G>C (p.Leu392=) c.1206G>C (p.Leu402=) n.887G>C c.*424G>C (n.*424G>C) c.*547G>C (n.*547G>C) c.1092G>C (p.Leu364=) c.249G>C (p.Leu83=) n.531G>C c.999G>C (p.Leu333=) c.1227G>C (p.Leu409=) c.1134G>C (p.Leu378=) | |
X | g.19359572G= | CA2418225593 | PDHA1 | c.1113G= (p.Leu371=) c.*784G= (n.*784G=) c.1176G= (p.Leu392=) c.1206G= (p.Leu402=) n.887G= c.*424G= (n.*424G=) c.*547G= (n.*547G=) c.1092G= (p.Leu364=) c.249G= (p.Leu83=) n.531G= c.999G= (p.Leu333=) c.1227G= (p.Leu409=) c.1134G= (p.Leu378=) | |
X | g.19359572G>T | CA515486450 | PDHA1 | c.1113G>T (p.Leu371=) c.*784G>T (n.*784G>T) c.1176G>T (p.Leu392=) c.1206G>T (p.Leu402=) n.887G>T c.*424G>T (n.*424G>T) c.*547G>T (n.*547G>T) c.1092G>T (p.Leu364=) c.249G>T (p.Leu83=) n.531G>T c.999G>T (p.Leu333=) c.1227G>T (p.Leu409=) c.1134G>T (p.Leu378=) | |
X | g.19359572_19359573insAAGAGCTGG | CA2695231672 | PDHA1 | c.1113_1114insAAGAGCTGG (p.Leu371_Gly372insLysSerTrp) c.*784_*785insAAGAGCTGG (n.*784_*785insAAGAGCTGG) c.1176_1177insAAGAGCTGG (p.Leu392_Gly393insLysSerTrp) c.1206_1207insAAGAGCTGG (p.Leu402_Gly403insLysSerTrp) n.887_888insAAGAGCTGG c.*424_*425insAAGAGCTGG (n.*424_*425insAAGAGCTGG) c.*547_*548insAAGAGCTGG (n.*547_*548insAAGAGCTGG) c.1092_1093insAAGAGCTGG (p.Leu364_Gly365insLysSerTrp) c.249_250insAAGAGCTGG (p.Leu83_Gly84insLysSerTrp) n.531_532insAAGAGCTGG c.999_1000insAAGAGCTGG (p.Leu333_Gly334insLysSerTrp) c.1227_1228insAAGAGCTGG (p.Leu409_Gly410insLysSerTrp) c.1134_1135insAAGAGCTGG (p.Leu378_Gly379insLysSerTrp) | |
X | g.19359573G>A | CA412396823 | PDHA1 | c.1114G>A (p.Gly372Ser) c.*785G>A (n.*785G>A) c.1177G>A (p.Gly393Ser) c.1207G>A (p.Gly403Ser) n.888G>A c.*425G>A (n.*425G>A) c.*548G>A (n.*548G>A) c.1093G>A (p.Gly365Ser) c.250G>A (p.Gly84Ser) n.532G>A c.1000G>A (p.Gly334Ser) c.1228G>A (p.Gly410Ser) c.1135G>A (p.Gly379Ser) | |
X | g.19359573G>C | CA412396819 | PDHA1 | c.1114G>C (p.Gly372Arg) c.*785G>C (n.*785G>C) c.1177G>C (p.Gly393Arg) c.1207G>C (p.Gly403Arg) n.888G>C c.*425G>C (n.*425G>C) c.*548G>C (n.*548G>C) c.1093G>C (p.Gly365Arg) c.250G>C (p.Gly84Arg) n.532G>C c.1000G>C (p.Gly334Arg) c.1228G>C (p.Gly410Arg) c.1135G>C (p.Gly379Arg) | |
X | g.19359573G>T | CA412396815 | PDHA1 | c.1114G>T (p.Gly372Cys) c.*785G>T (n.*785G>T) c.1177G>T (p.Gly393Cys) c.1207G>T (p.Gly403Cys) n.888G>T c.*425G>T (n.*425G>T) c.*548G>T (n.*548G>T) c.1093G>T (p.Gly365Cys) c.250G>T (p.Gly84Cys) n.532G>T c.1000G>T (p.Gly334Cys) c.1228G>T (p.Gly410Cys) c.1135G>T (p.Gly379Cys) | |
X | g.19359574G>A | CA412396827 | PDHA1 | c.1115G>A (p.Gly372Asp) c.*786G>A (n.*786G>A) c.1178G>A (p.Gly393Asp) c.1208G>A (p.Gly403Asp) n.889G>A c.*426G>A (n.*426G>A) c.*549G>A (n.*549G>A) c.1094G>A (p.Gly365Asp) c.251G>A (p.Gly84Asp) n.533G>A c.1001G>A (p.Gly334Asp) c.1229G>A (p.Gly410Asp) c.1136G>A (p.Gly379Asp) | |
X | g.19359574G>C | CA412396830 | PDHA1 | c.1115G>C (p.Gly372Ala) c.*786G>C (n.*786G>C) c.1178G>C (p.Gly393Ala) c.1208G>C (p.Gly403Ala) n.889G>C c.*426G>C (n.*426G>C) c.*549G>C (n.*549G>C) c.1094G>C (p.Gly365Ala) c.251G>C (p.Gly84Ala) n.533G>C c.1001G>C (p.Gly334Ala) c.1229G>C (p.Gly410Ala) c.1136G>C (p.Gly379Ala) | gnomAD v4 |
X | g.19359574G>T | CA412396831 | PDHA1 | c.1115G>T (p.Gly372Val) c.*786G>T (n.*786G>T) c.1178G>T (p.Gly393Val) c.1208G>T (p.Gly403Val) n.889G>T c.*426G>T (n.*426G>T) c.*549G>T (n.*549G>T) c.1094G>T (p.Gly365Val) c.251G>T (p.Gly84Val) n.533G>T c.1001G>T (p.Gly334Val) c.1229G>T (p.Gly410Val) c.1136G>T (p.Gly379Val) | |
X | g.19359575C>A | CA515486452 | PDHA1 | c.1116C>A (p.Gly372=) c.*787C>A (n.*787C>A) c.1179C>A (p.Gly393=) c.1209C>A (p.Gly403=) n.890C>A c.*427C>A (n.*427C>A) c.*550C>A (n.*550C>A) c.1095C>A (p.Gly365=) c.252C>A (p.Gly84=) n.534C>A c.1002C>A (p.Gly334=) c.1230C>A (p.Gly410=) c.1137C>A (p.Gly379=) | |
X | g.19359575C>G | CA515486453 | PDHA1 | c.1116C>G (p.Gly372=) c.*787C>G (n.*787C>G) c.1179C>G (p.Gly393=) c.1209C>G (p.Gly403=) n.890C>G c.*427C>G (n.*427C>G) c.*550C>G (n.*550C>G) c.1095C>G (p.Gly365=) c.252C>G (p.Gly84=) n.534C>G c.1002C>G (p.Gly334=) c.1230C>G (p.Gly410=) c.1137C>G (p.Gly379=) | |
X | g.19359575C>T | CA515486454 | PDHA1 | c.1116C>T (p.Gly372=) c.*787C>T (n.*787C>T) c.1179C>T (p.Gly393=) c.1209C>T (p.Gly403=) n.890C>T c.*427C>T (n.*427C>T) c.*550C>T (n.*550C>T) c.1095C>T (p.Gly365=) c.252C>T (p.Gly84=) n.534C>T c.1002C>T (p.Gly334=) c.1230C>T (p.Gly410=) c.1137C>T (p.Gly379=) | |
X | g.19359576T>A | CA412396832 | PDHA1 | c.1117T>A (p.Tyr373Asn) c.*788T>A (n.*788T>A) c.1180T>A (p.Tyr394Asn) c.1210T>A (p.Tyr404Asn) n.891T>A c.*428T>A (n.*428T>A) c.*551T>A (n.*551T>A) c.1096T>A (p.Tyr366Asn) c.253T>A (p.Tyr85Asn) n.535T>A c.1003T>A (p.Tyr335Asn) c.1231T>A (p.Tyr411Asn) c.1138T>A (p.Tyr380Asn) | |
X | g.19359576T>C | CA412396834 | PDHA1 | c.1117T>C (p.Tyr373His) c.*788T>C (n.*788T>C) c.1180T>C (p.Tyr394His) c.1210T>C (p.Tyr404His) n.891T>C c.*428T>C (n.*428T>C) c.*551T>C (n.*551T>C) c.1096T>C (p.Tyr366His) c.253T>C (p.Tyr85His) n.535T>C c.1003T>C (p.Tyr335His) c.1231T>C (p.Tyr411His) c.1138T>C (p.Tyr380His) | |
X | g.19359576T>G | CA412396835 | PDHA1 | c.1117T>G (p.Tyr373Asp) c.*788T>G (n.*788T>G) c.1180T>G (p.Tyr394Asp) c.1210T>G (p.Tyr404Asp) n.891T>G c.*428T>G (n.*428T>G) c.*551T>G (n.*551T>G) c.1096T>G (p.Tyr366Asp) c.253T>G (p.Tyr85Asp) n.535T>G c.1003T>G (p.Tyr335Asp) c.1231T>G (p.Tyr411Asp) c.1138T>G (p.Tyr380Asp) | |
X | g.19359577A>C | CA412396837 | PDHA1 | c.1118A>C (p.Tyr373Ser) c.*789A>C (n.*789A>C) c.1181A>C (p.Tyr394Ser) c.1211A>C (p.Tyr404Ser) n.892A>C c.*429A>C (n.*429A>C) c.*552A>C (n.*552A>C) c.1097A>C (p.Tyr366Ser) c.254A>C (p.Tyr85Ser) n.536A>C c.1004A>C (p.Tyr335Ser) c.1232A>C (p.Tyr411Ser) c.1139A>C (p.Tyr380Ser) | |
X | g.19359577A>G | CA412396843 | PDHA1 | c.1118A>G (p.Tyr373Cys) c.*789A>G (n.*789A>G) c.1181A>G (p.Tyr394Cys) c.1211A>G (p.Tyr404Cys) n.892A>G c.*429A>G (n.*429A>G) c.*552A>G (n.*552A>G) c.1097A>G (p.Tyr366Cys) c.254A>G (p.Tyr85Cys) n.536A>G c.1004A>G (p.Tyr335Cys) c.1232A>G (p.Tyr411Cys) c.1139A>G (p.Tyr380Cys) | |
X | g.19359577A>T | CA412396839 | PDHA1 | c.1118A>T (p.Tyr373Phe) c.*789A>T (n.*789A>T) c.1181A>T (p.Tyr394Phe) c.1211A>T (p.Tyr404Phe) n.892A>T c.*429A>T (n.*429A>T) c.*552A>T (n.*552A>T) c.1097A>T (p.Tyr366Phe) c.254A>T (p.Tyr85Phe) n.536A>T c.1004A>T (p.Tyr335Phe) c.1232A>T (p.Tyr411Phe) c.1139A>T (p.Tyr380Phe) | |
X | g.19359578C>A | CA412396847 | PDHA1 | c.1119C>A (p.Tyr373Ter) c.*790C>A (n.*790C>A) c.1182C>A (p.Tyr394Ter) c.1212C>A (p.Tyr404Ter) n.893C>A c.*430C>A (n.*430C>A) c.*553C>A (n.*553C>A) c.1098C>A (p.Tyr366Ter) c.255C>A (p.Tyr85Ter) n.537C>A c.1005C>A (p.Tyr335Ter) c.1233C>A (p.Tyr411Ter) c.1140C>A (p.Tyr380Ter) | ClinVar dbSNP |
X | g.19359578C= | CA2418225594 | PDHA1 | c.1119C= (p.Tyr373=) c.*790C= (n.*790C=) c.1182C= (p.Tyr394=) c.1212C= (p.Tyr404=) n.893C= c.*430C= (n.*430C=) c.*553C= (n.*553C=) c.1098C= (p.Tyr366=) c.255C= (p.Tyr85=) n.537C= c.1005C= (p.Tyr335=) c.1233C= (p.Tyr411=) c.1140C= (p.Tyr380=) | |
X | g.19359578C>G | CA412396849 | PDHA1 | c.1119C>G (p.Tyr373Ter) c.*790C>G (n.*790C>G) c.1182C>G (p.Tyr394Ter) c.1212C>G (p.Tyr404Ter) n.893C>G c.*430C>G (n.*430C>G) c.*553C>G (n.*553C>G) c.1098C>G (p.Tyr366Ter) c.255C>G (p.Tyr85Ter) n.537C>G c.1005C>G (p.Tyr335Ter) c.1233C>G (p.Tyr411Ter) c.1140C>G (p.Tyr380Ter) | |
X | g.19359578C>T | CA515486455 | PDHA1 | c.1119C>T (p.Tyr373=) c.*790C>T (n.*790C>T) c.1182C>T (p.Tyr394=) c.1212C>T (p.Tyr404=) n.893C>T c.*430C>T (n.*430C>T) c.*553C>T (n.*553C>T) c.1098C>T (p.Tyr366=) c.255C>T (p.Tyr85=) n.537C>T c.1005C>T (p.Tyr335=) c.1233C>T (p.Tyr411=) c.1140C>T (p.Tyr380=) | |
X | g.19359579del | CA2527477704 | PDHA1 | c.1120del (p.His374ThrfsTer?) c.*791del (n.*791del) c.1183del (p.His395ThrfsTer?) c.1213del (p.His405ThrfsTer?) n.894del c.*431del (n.*431del) c.*554del (n.*554del) c.1099del (p.His367ThrfsTer?) c.256del (p.His86ThrfsTer?) n.538del c.1006del (p.His336ThrfsTer?) c.1234del (p.His412ThrfsTer?) c.1141del (p.His381ThrfsTer?) | |
X | g.19359579C>A | CA412396852 | PDHA1 | c.1120C>A (p.His374Asn) c.*791C>A (n.*791C>A) c.1183C>A (p.His395Asn) c.1213C>A (p.His405Asn) n.894C>A c.*431C>A (n.*431C>A) c.*554C>A (n.*554C>A) c.1099C>A (p.His367Asn) c.256C>A (p.His86Asn) n.538C>A c.1006C>A (p.His336Asn) c.1234C>A (p.His412Asn) c.1141C>A (p.His381Asn) | gnomAD v3 gnomAD v4 |
X | g.19359579C= | CA2418225595 | PDHA1 | c.1120C= (p.His374=) c.*791C= (n.*791C=) c.1183C= (p.His395=) c.1213C= (p.His405=) n.894C= c.*431C= (n.*431C=) c.*554C= (n.*554C=) c.1099C= (p.His367=) c.256C= (p.His86=) n.538C= c.1006C= (p.His336=) c.1234C= (p.His412=) c.1141C= (p.His381=) | |
X | g.19359579C>G | CA412396853 | PDHA1 | c.1120C>G (p.His374Asp) c.*791C>G (n.*791C>G) c.1183C>G (p.His395Asp) c.1213C>G (p.His405Asp) n.894C>G c.*431C>G (n.*431C>G) c.*554C>G (n.*554C>G) c.1099C>G (p.His367Asp) c.256C>G (p.His86Asp) n.538C>G c.1006C>G (p.His336Asp) c.1234C>G (p.His412Asp) c.1141C>G (p.His381Asp) | |
X | g.19359579C>T | CA412396858 | PDHA1 | c.1120C>T (p.His374Tyr) c.*791C>T (n.*791C>T) c.1183C>T (p.His395Tyr) c.1213C>T (p.His405Tyr) n.894C>T c.*431C>T (n.*431C>T) c.*554C>T (n.*554C>T) c.1099C>T (p.His367Tyr) c.256C>T (p.His86Tyr) n.538C>T c.1006C>T (p.His336Tyr) c.1234C>T (p.His412Tyr) c.1141C>T (p.His381Tyr) | ClinVar dbSNP |
X | g.19359580A= | CA2418225596 | PDHA1 | c.1121A= (p.His374=) c.*792A= (n.*792A=) c.1184A= (p.His395=) c.1214A= (p.His405=) n.895A= c.*432A= (n.*432A=) c.*555A= (n.*555A=) c.1100A= (p.His367=) c.257A= (p.His86=) n.539A= c.1007A= (p.His336=) c.1235A= (p.His412=) c.1142A= (p.His381=) | |
X | g.19359580A>C | CA412396862 | PDHA1 | c.1121A>C (p.His374Pro) c.*792A>C (n.*792A>C) c.1184A>C (p.His395Pro) c.1214A>C (p.His405Pro) n.895A>C c.*432A>C (n.*432A>C) c.*555A>C (n.*555A>C) c.1100A>C (p.His367Pro) c.257A>C (p.His86Pro) n.539A>C c.1007A>C (p.His336Pro) c.1235A>C (p.His412Pro) c.1142A>C (p.His381Pro) | ClinVar dbSNP |
X | g.19359580A>G | CA412396866 | PDHA1 | c.1121A>G (p.His374Arg) c.*792A>G (n.*792A>G) c.1184A>G (p.His395Arg) c.1214A>G (p.His405Arg) n.895A>G c.*432A>G (n.*432A>G) c.*555A>G (n.*555A>G) c.1100A>G (p.His367Arg) c.257A>G (p.His86Arg) n.539A>G c.1007A>G (p.His336Arg) c.1235A>G (p.His412Arg) c.1142A>G (p.His381Arg) | |
X | g.19359580A>T | CA412396868 | PDHA1 | c.1121A>T (p.His374Leu) c.*792A>T (n.*792A>T) c.1184A>T (p.His395Leu) c.1214A>T (p.His405Leu) n.895A>T c.*432A>T (n.*432A>T) c.*555A>T (n.*555A>T) c.1100A>T (p.His367Leu) c.257A>T (p.His86Leu) n.539A>T c.1007A>T (p.His336Leu) c.1235A>T (p.His412Leu) c.1142A>T (p.His381Leu) | ClinVar dbSNP |
X | g.19359581C>A | CA412396872 | PDHA1 | c.1122C>A (p.His374Gln) c.*793C>A (n.*793C>A) c.1185C>A (p.His395Gln) c.1215C>A (p.His405Gln) n.896C>A c.*433C>A (n.*433C>A) c.*556C>A (n.*556C>A) c.1101C>A (p.His367Gln) c.258C>A (p.His86Gln) n.540C>A c.1008C>A (p.His336Gln) c.1236C>A (p.His412Gln) c.1143C>A (p.His381Gln) | |
X | g.19359581C>G | CA412396874 | PDHA1 | c.1122C>G (p.His374Gln) c.*793C>G (n.*793C>G) c.1185C>G (p.His395Gln) c.1215C>G (p.His405Gln) n.896C>G c.*433C>G (n.*433C>G) c.*556C>G (n.*556C>G) c.1101C>G (p.His367Gln) c.258C>G (p.His86Gln) n.540C>G c.1008C>G (p.His336Gln) c.1236C>G (p.His412Gln) c.1143C>G (p.His381Gln) | |
X | g.19359581C>T | CA515486456 | PDHA1 | c.1122C>T (p.His374=) c.*793C>T (n.*793C>T) c.1185C>T (p.His395=) c.1215C>T (p.His405=) n.896C>T c.*433C>T (n.*433C>T) c.*556C>T (n.*556C>T) c.1101C>T (p.His367=) c.258C>T (p.His86=) n.540C>T c.1008C>T (p.His336=) c.1236C>T (p.His412=) c.1143C>T (p.His381=) | gnomAD v4 |
X | g.19359582A= | CA2418225597 | PDHA1 | c.1123A= (p.Ile375=) c.*794A= (n.*794A=) c.1186A= (p.Ile396=) c.1216A= (p.Ile406=) n.897A= c.*434A= (n.*434A=) c.*557A= (n.*557A=) c.1102A= (p.Ile368=) c.259A= (p.Ile87=) n.541A= c.1009A= (p.Ile337=) c.1237A= (p.Ile413=) c.1144A= (p.Ile382=) | |
X | g.19359582A>C | CA10363211 | PDHA1 | c.1123A>C (p.Ile375Leu) c.*794A>C (n.*794A>C) c.1186A>C (p.Ile396Leu) c.1216A>C (p.Ile406Leu) n.897A>C c.*434A>C (n.*434A>C) c.*557A>C (n.*557A>C) c.1102A>C (p.Ile368Leu) c.259A>C (p.Ile87Leu) n.541A>C c.1009A>C (p.Ile337Leu) c.1237A>C (p.Ile413Leu) c.1144A>C (p.Ile382Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359582A>G | CA412396882 | PDHA1 | c.1123A>G (p.Ile375Val) c.*794A>G (n.*794A>G) c.1186A>G (p.Ile396Val) c.1216A>G (p.Ile406Val) n.897A>G c.*434A>G (n.*434A>G) c.*557A>G (n.*557A>G) c.1102A>G (p.Ile368Val) c.259A>G (p.Ile87Val) n.541A>G c.1009A>G (p.Ile337Val) c.1237A>G (p.Ile413Val) c.1144A>G (p.Ile382Val) | gnomAD v4 |
X | g.19359582A>T | CA412396879 | PDHA1 | c.1123A>T (p.Ile375Phe) c.*794A>T (n.*794A>T) c.1186A>T (p.Ile396Phe) c.1216A>T (p.Ile406Phe) n.897A>T c.*434A>T (n.*434A>T) c.*557A>T (n.*557A>T) c.1102A>T (p.Ile368Phe) c.259A>T (p.Ile87Phe) n.541A>T c.1009A>T (p.Ile337Phe) c.1237A>T (p.Ile413Phe) c.1144A>T (p.Ile382Phe) | |
X | g.19359583T>A | CA412396890 | PDHA1 | c.1124T>A (p.Ile375Asn) c.*795T>A (n.*795T>A) c.1187T>A (p.Ile396Asn) c.1217T>A (p.Ile406Asn) n.898T>A c.*435T>A (n.*435T>A) c.*558T>A (n.*558T>A) c.1103T>A (p.Ile368Asn) c.260T>A (p.Ile87Asn) n.542T>A c.1010T>A (p.Ile337Asn) c.1238T>A (p.Ile413Asn) c.1145T>A (p.Ile382Asn) | |
X | g.19359583T>C | CA412396895 | PDHA1 | c.1124T>C (p.Ile375Thr) c.*795T>C (n.*795T>C) c.1187T>C (p.Ile396Thr) c.1217T>C (p.Ile406Thr) n.898T>C c.*435T>C (n.*435T>C) c.*558T>C (n.*558T>C) c.1103T>C (p.Ile368Thr) c.260T>C (p.Ile87Thr) n.542T>C c.1010T>C (p.Ile337Thr) c.1238T>C (p.Ile413Thr) c.1145T>C (p.Ile382Thr) | |
X | g.19359583T>G | CA412396892 | PDHA1 | c.1124T>G (p.Ile375Ser) c.*795T>G (n.*795T>G) c.1187T>G (p.Ile396Ser) c.1217T>G (p.Ile406Ser) n.898T>G c.*435T>G (n.*435T>G) c.*558T>G (n.*558T>G) c.1103T>G (p.Ile368Ser) c.260T>G (p.Ile87Ser) n.542T>G c.1010T>G (p.Ile337Ser) c.1238T>G (p.Ile413Ser) c.1145T>G (p.Ile382Ser) | |
X | g.19359583_19359588dup | CA2580100440 | PDHA1 | c.1124_1129dup (p.Tyr376_Ser377insPheTyr) c.*795_*800dup (n.*795_*800dup) c.1187_1192dup (p.Tyr397_Ser398insPheTyr) c.1217_1222dup (p.Tyr407_Ser408insPheTyr) n.898_903dup c.*435_*440dup (n.*435_*440dup) c.*558_*563dup (n.*558_*563dup) c.1103_1108dup (p.Tyr369_Ser370insPheTyr) c.260_265dup (p.Tyr88_Ser89insPheTyr) n.542_547dup c.1010_1015dup (p.Tyr338_Ser339insPheTyr) c.1238_1243dup (p.Tyr414_Ser415insPheTyr) c.1145_1150dup (p.Tyr383_Ser384insPheTyr) | ClinVar |
X | g.19359584C>A | CA515486457 | PDHA1 | c.1125C>A (p.Ile375=) c.*796C>A (n.*796C>A) c.1188C>A (p.Ile396=) c.1218C>A (p.Ile406=) n.899C>A c.*436C>A (n.*436C>A) c.*559C>A (n.*559C>A) c.1104C>A (p.Ile368=) c.261C>A (p.Ile87=) n.543C>A c.1011C>A (p.Ile337=) c.1239C>A (p.Ile413=) c.1146C>A (p.Ile382=) | |
X | g.19359584C>G | CA412396898 | PDHA1 | c.1125C>G (p.Ile375Met) c.*796C>G (n.*796C>G) c.1188C>G (p.Ile396Met) c.1218C>G (p.Ile406Met) n.899C>G c.*436C>G (n.*436C>G) c.*559C>G (n.*559C>G) c.1104C>G (p.Ile368Met) c.261C>G (p.Ile87Met) n.543C>G c.1011C>G (p.Ile337Met) c.1239C>G (p.Ile413Met) c.1146C>G (p.Ile382Met) | |
X | g.19359584C>T | CA515486458 | PDHA1 | c.1125C>T (p.Ile375=) c.*796C>T (n.*796C>T) c.1188C>T (p.Ile396=) c.1218C>T (p.Ile406=) n.899C>T c.*436C>T (n.*436C>T) c.*559C>T (n.*559C>T) c.1104C>T (p.Ile368=) c.261C>T (p.Ile87=) n.543C>T c.1011C>T (p.Ile337=) c.1239C>T (p.Ile413=) c.1146C>T (p.Ile382=) | |
X | g.19359585T>A | CA412396903 | PDHA1 | c.1126T>A (p.Tyr376Asn) c.*797T>A (n.*797T>A) c.1189T>A (p.Tyr397Asn) c.1219T>A (p.Tyr407Asn) n.900T>A c.*437T>A (n.*437T>A) c.*560T>A (n.*560T>A) c.1105T>A (p.Tyr369Asn) c.262T>A (p.Tyr88Asn) n.544T>A c.1012T>A (p.Tyr338Asn) c.1240T>A (p.Tyr414Asn) c.1147T>A (p.Tyr383Asn) | |
X | g.19359585T>C | CA412396907 | PDHA1 | c.1126T>C (p.Tyr376His) c.*797T>C (n.*797T>C) c.1189T>C (p.Tyr397His) c.1219T>C (p.Tyr407His) n.900T>C c.*437T>C (n.*437T>C) c.*560T>C (n.*560T>C) c.1105T>C (p.Tyr369His) c.262T>C (p.Tyr88His) n.544T>C c.1012T>C (p.Tyr338His) c.1240T>C (p.Tyr414His) c.1147T>C (p.Tyr383His) | |
X | g.19359585T>G | CA412396910 | PDHA1 | c.1126T>G (p.Tyr376Asp) c.*797T>G (n.*797T>G) c.1189T>G (p.Tyr397Asp) c.1219T>G (p.Tyr407Asp) n.900T>G c.*437T>G (n.*437T>G) c.*560T>G (n.*560T>G) c.1105T>G (p.Tyr369Asp) c.262T>G (p.Tyr88Asp) n.544T>G c.1012T>G (p.Tyr338Asp) c.1240T>G (p.Tyr414Asp) c.1147T>G (p.Tyr383Asp) | |
X | g.19359585_19359587delinsCAA | CA2695231673 | PDHA1 | c.1126_1128delinsCAA (p.Tyr376Gln) c.*797_*799delinsCAA (n.*797_*799delinsCAA) c.1189_1191delinsCAA (p.Tyr397Gln) c.1219_1221delinsCAA (p.Tyr407Gln) n.900_902delinsCAA c.*437_*439delinsCAA (n.*437_*439delinsCAA) c.*560_*562delinsCAA (n.*560_*562delinsCAA) c.1105_1107delinsCAA (p.Tyr369Gln) c.262_264delinsCAA (p.Tyr88Gln) n.544_546delinsCAA c.1012_1014delinsCAA (p.Tyr338Gln) c.1240_1242delinsCAA (p.Tyr414Gln) c.1147_1149delinsCAA (p.Tyr383Gln) | |
X | g.19359586A>C | CA412396914 | PDHA1 | c.1127A>C (p.Tyr376Ser) c.*798A>C (n.*798A>C) c.1190A>C (p.Tyr397Ser) c.1220A>C (p.Tyr407Ser) n.901A>C c.*438A>C (n.*438A>C) c.*561A>C (n.*561A>C) c.1106A>C (p.Tyr369Ser) c.263A>C (p.Tyr88Ser) n.545A>C c.1013A>C (p.Tyr338Ser) c.1241A>C (p.Tyr414Ser) c.1148A>C (p.Tyr383Ser) | |
X | g.19359586A>G | CA412396916 | PDHA1 | c.1127A>G (p.Tyr376Cys) c.*798A>G (n.*798A>G) c.1190A>G (p.Tyr397Cys) c.1220A>G (p.Tyr407Cys) n.901A>G c.*438A>G (n.*438A>G) c.*561A>G (n.*561A>G) c.1106A>G (p.Tyr369Cys) c.263A>G (p.Tyr88Cys) n.545A>G c.1013A>G (p.Tyr338Cys) c.1241A>G (p.Tyr414Cys) c.1148A>G (p.Tyr383Cys) | |
X | g.19359586A>T | CA412396919 | PDHA1 | c.1127A>T (p.Tyr376Phe) c.*798A>T (n.*798A>T) c.1190A>T (p.Tyr397Phe) c.1220A>T (p.Tyr407Phe) n.901A>T c.*438A>T (n.*438A>T) c.*561A>T (n.*561A>T) c.1106A>T (p.Tyr369Phe) c.263A>T (p.Tyr88Phe) n.545A>T c.1013A>T (p.Tyr338Phe) c.1241A>T (p.Tyr414Phe) c.1148A>T (p.Tyr383Phe) | |
X | g.19359587C>A | CA412396923 | PDHA1 | c.1128C>A (p.Tyr376Ter) c.*799C>A (n.*799C>A) c.1191C>A (p.Tyr397Ter) c.1221C>A (p.Tyr407Ter) n.902C>A c.*439C>A (n.*439C>A) c.*562C>A (n.*562C>A) c.1107C>A (p.Tyr369Ter) c.264C>A (p.Tyr88Ter) n.546C>A c.1014C>A (p.Tyr338Ter) c.1242C>A (p.Tyr414Ter) c.1149C>A (p.Tyr383Ter) | |
X | g.19359587C= | CA2418225598 | PDHA1 | c.1128C= (p.Tyr376=) c.*799C= (n.*799C=) c.1191C= (p.Tyr397=) c.1221C= (p.Tyr407=) n.902C= c.*439C= (n.*439C=) c.*562C= (n.*562C=) c.1107C= (p.Tyr369=) c.264C= (p.Tyr88=) n.546C= c.1014C= (p.Tyr338=) c.1242C= (p.Tyr414=) c.1149C= (p.Tyr383=) | |
X | g.19359587C>G | CA412396929 | PDHA1 | c.1128C>G (p.Tyr376Ter) c.*799C>G (n.*799C>G) c.1191C>G (p.Tyr397Ter) c.1221C>G (p.Tyr407Ter) n.902C>G c.*439C>G (n.*439C>G) c.*562C>G (n.*562C>G) c.1107C>G (p.Tyr369Ter) c.264C>G (p.Tyr88Ter) n.546C>G c.1014C>G (p.Tyr338Ter) c.1242C>G (p.Tyr414Ter) c.1149C>G (p.Tyr383Ter) | |
X | g.19359587C>T | CA515486459 | PDHA1 | c.1128C>T (p.Tyr376=) c.*799C>T (n.*799C>T) c.1191C>T (p.Tyr397=) c.1221C>T (p.Tyr407=) n.902C>T c.*439C>T (n.*439C>T) c.*562C>T (n.*562C>T) c.1107C>T (p.Tyr369=) c.264C>T (p.Tyr88=) n.546C>T c.1014C>T (p.Tyr338=) c.1242C>T (p.Tyr414=) c.1149C>T (p.Tyr383=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359589_19359602del | CA2580100441 | PDHA1 | c.1130_1143del (p.Ser377PhefsTer2) c.*801_*814del (n.*801_*814del) c.1193_1206del (p.Ser398PhefsTer2) c.1223_1236del (p.Ser408PhefsTer2) n.904_917del c.*441_*454del (n.*441_*454del) c.*564_*577del (n.*564_*577del) c.1109_1122del (p.Ser370PhefsTer2) c.266_279del (p.Ser89PhefsTer2) n.548_561del c.1016_1029del (p.Ser339PhefsTer2) c.1244_1257del (p.Ser415PhefsTer2) c.1151_1164del (p.Ser384PhefsTer2) | ClinVar |
X | g.19359588T>A | CA412396934 | PDHA1 | c.1129T>A (p.Ser377Thr) c.*800T>A (n.*800T>A) c.1192T>A (p.Ser398Thr) c.1222T>A (p.Ser408Thr) n.903T>A c.*440T>A (n.*440T>A) c.*563T>A (n.*563T>A) c.1108T>A (p.Ser370Thr) c.265T>A (p.Ser89Thr) n.547T>A c.1015T>A (p.Ser339Thr) c.1243T>A (p.Ser415Thr) c.1150T>A (p.Ser384Thr) | |
X | g.19359588T>C | CA412396937 | PDHA1 | c.1129T>C (p.Ser377Pro) c.*800T>C (n.*800T>C) c.1192T>C (p.Ser398Pro) c.1222T>C (p.Ser408Pro) n.903T>C c.*440T>C (n.*440T>C) c.*563T>C (n.*563T>C) c.1108T>C (p.Ser370Pro) c.265T>C (p.Ser89Pro) n.547T>C c.1015T>C (p.Ser339Pro) c.1243T>C (p.Ser415Pro) c.1150T>C (p.Ser384Pro) | |
X | g.19359588T>G | CA412396940 | PDHA1 | c.1129T>G (p.Ser377Ala) c.*800T>G (n.*800T>G) c.1192T>G (p.Ser398Ala) c.1222T>G (p.Ser408Ala) n.903T>G c.*440T>G (n.*440T>G) c.*563T>G (n.*563T>G) c.1108T>G (p.Ser370Ala) c.265T>G (p.Ser89Ala) n.547T>G c.1015T>G (p.Ser339Ala) c.1243T>G (p.Ser415Ala) c.1150T>G (p.Ser384Ala) | |
X | g.19359589C>A | CA412396944 | PDHA1 | c.1130C>A (p.Ser377Tyr) c.*801C>A (n.*801C>A) c.1193C>A (p.Ser398Tyr) c.1223C>A (p.Ser408Tyr) n.904C>A c.*441C>A (n.*441C>A) c.*564C>A (n.*564C>A) c.1109C>A (p.Ser370Tyr) c.266C>A (p.Ser89Tyr) n.548C>A c.1016C>A (p.Ser339Tyr) c.1244C>A (p.Ser415Tyr) c.1151C>A (p.Ser384Tyr) | |
X | g.19359589C>G | CA412396950 | PDHA1 | c.1130C>G (p.Ser377Cys) c.*801C>G (n.*801C>G) c.1193C>G (p.Ser398Cys) c.1223C>G (p.Ser408Cys) n.904C>G c.*441C>G (n.*441C>G) c.*564C>G (n.*564C>G) c.1109C>G (p.Ser370Cys) c.266C>G (p.Ser89Cys) n.548C>G c.1016C>G (p.Ser339Cys) c.1244C>G (p.Ser415Cys) c.1151C>G (p.Ser384Cys) | |
X | g.19359589C>T | CA412396947 | PDHA1 | c.1130C>T (p.Ser377Phe) c.*801C>T (n.*801C>T) c.1193C>T (p.Ser398Phe) c.1223C>T (p.Ser408Phe) n.904C>T c.*441C>T (n.*441C>T) c.*564C>T (n.*564C>T) c.1109C>T (p.Ser370Phe) c.266C>T (p.Ser89Phe) n.548C>T c.1016C>T (p.Ser339Phe) c.1244C>T (p.Ser415Phe) c.1151C>T (p.Ser384Phe) | |
X | g.19359589_19359590delinsTT | CA645608006 | PDHA1 | c.1130_1131delinsTT (p.Ser377Phe) c.*801_*802delinsTT (n.*801_*802delinsTT) c.1193_1194delinsTT (p.Ser398Phe) c.1223_1224delinsTT (p.Ser408Phe) n.904_905delinsTT c.*441_*442delinsTT (n.*441_*442delinsTT) c.*564_*565delinsTT (n.*564_*565delinsTT) c.1109_1110delinsTT (p.Ser370Phe) c.266_267delinsTT (p.Ser89Phe) n.548_549delinsTT c.1016_1017delinsTT (p.Ser339Phe) c.1244_1245delinsTT (p.Ser415Phe) c.1151_1152delinsTT (p.Ser384Phe) | COSMIC COSMIC COSMIC |
X | g.19359590C>A | CA10363212 | PDHA1 | c.1131C>A (p.Ser377=) c.*802C>A (n.*802C>A) c.1194C>A (p.Ser398=) c.1224C>A (p.Ser408=) n.905C>A c.*442C>A (n.*442C>A) c.*565C>A (n.*565C>A) c.1110C>A (p.Ser370=) c.267C>A (p.Ser89=) n.549C>A c.1017C>A (p.Ser339=) c.1245C>A (p.Ser415=) c.1152C>A (p.Ser384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359590C= | CA2418225599 | PDHA1 | c.1131C= (p.Ser377=) c.*802C= (n.*802C=) c.1194C= (p.Ser398=) c.1224C= (p.Ser408=) n.905C= c.*442C= (n.*442C=) c.*565C= (n.*565C=) c.1110C= (p.Ser370=) c.267C= (p.Ser89=) n.549C= c.1017C= (p.Ser339=) c.1245C= (p.Ser415=) c.1152C= (p.Ser384=) | |
X | g.19359590C>G | CA515486460 | PDHA1 | c.1131C>G (p.Ser377=) c.*802C>G (n.*802C>G) c.1194C>G (p.Ser398=) c.1224C>G (p.Ser408=) n.905C>G c.*442C>G (n.*442C>G) c.*565C>G (n.*565C>G) c.1110C>G (p.Ser370=) c.267C>G (p.Ser89=) n.549C>G c.1017C>G (p.Ser339=) c.1245C>G (p.Ser415=) c.1152C>G (p.Ser384=) | |
X | g.19359590C>T | CA515486461 | PDHA1 | c.1131C>T (p.Ser377=) c.*802C>T (n.*802C>T) c.1194C>T (p.Ser398=) c.1224C>T (p.Ser408=) n.905C>T c.*442C>T (n.*442C>T) c.*565C>T (n.*565C>T) c.1110C>T (p.Ser370=) c.267C>T (p.Ser89=) n.549C>T c.1017C>T (p.Ser339=) c.1245C>T (p.Ser415=) c.1152C>T (p.Ser384=) | |
X | g.19359591A>C | CA412396958 | PDHA1 | c.1132A>C (p.Ser378Arg) c.*803A>C (n.*803A>C) c.1195A>C (p.Ser399Arg) c.1225A>C (p.Ser409Arg) n.906A>C c.*443A>C (n.*443A>C) c.*566A>C (n.*566A>C) c.1111A>C (p.Ser371Arg) c.268A>C (p.Ser90Arg) n.550A>C c.1018A>C (p.Ser340Arg) c.1246A>C (p.Ser416Arg) c.1153A>C (p.Ser385Arg) | |
X | g.19359591A>G | CA412396962 | PDHA1 | c.1132A>G (p.Ser378Gly) c.*803A>G (n.*803A>G) c.1195A>G (p.Ser399Gly) c.1225A>G (p.Ser409Gly) n.906A>G c.*443A>G (n.*443A>G) c.*566A>G (n.*566A>G) c.1111A>G (p.Ser371Gly) c.268A>G (p.Ser90Gly) n.550A>G c.1018A>G (p.Ser340Gly) c.1246A>G (p.Ser416Gly) c.1153A>G (p.Ser385Gly) | |
X | g.19359591A>T | CA412396966 | PDHA1 | c.1132A>T (p.Ser378Cys) c.*803A>T (n.*803A>T) c.1195A>T (p.Ser399Cys) c.1225A>T (p.Ser409Cys) n.906A>T c.*443A>T (n.*443A>T) c.*566A>T (n.*566A>T) c.1111A>T (p.Ser371Cys) c.268A>T (p.Ser90Cys) n.550A>T c.1018A>T (p.Ser340Cys) c.1246A>T (p.Ser416Cys) c.1153A>T (p.Ser385Cys) | |
X | g.19359592G>A | CA412396971 | PDHA1 | c.1133G>A (p.Ser378Asn) c.*804G>A (n.*804G>A) c.1196G>A (p.Ser399Asn) c.1226G>A (p.Ser409Asn) n.907G>A c.*444G>A (n.*444G>A) c.*567G>A (n.*567G>A) c.1112G>A (p.Ser371Asn) c.269G>A (p.Ser90Asn) n.551G>A c.1019G>A (p.Ser340Asn) c.1247G>A (p.Ser416Asn) c.1154G>A (p.Ser385Asn) | |
X | g.19359592G>C | CA412396972 | PDHA1 | c.1133G>C (p.Ser378Thr) c.*804G>C (n.*804G>C) c.1196G>C (p.Ser399Thr) c.1226G>C (p.Ser409Thr) n.907G>C c.*444G>C (n.*444G>C) c.*567G>C (n.*567G>C) c.1112G>C (p.Ser371Thr) c.269G>C (p.Ser90Thr) n.551G>C c.1019G>C (p.Ser340Thr) c.1247G>C (p.Ser416Thr) c.1154G>C (p.Ser385Thr) | dbSNP gnomAD v4 |
X | g.19359592G= | CA2418225600 | PDHA1 | c.1133G= (p.Ser378=) c.*804G= (n.*804G=) c.1196G= (p.Ser399=) c.1226G= (p.Ser409=) n.907G= c.*444G= (n.*444G=) c.*567G= (n.*567G=) c.1112G= (p.Ser371=) c.269G= (p.Ser90=) n.551G= c.1019G= (p.Ser340=) c.1247G= (p.Ser416=) c.1154G= (p.Ser385=) | |
X | g.19359592G>T | CA412396976 | PDHA1 | c.1133G>T (p.Ser378Ile) c.*804G>T (n.*804G>T) c.1196G>T (p.Ser399Ile) c.1226G>T (p.Ser409Ile) n.907G>T c.*444G>T (n.*444G>T) c.*567G>T (n.*567G>T) c.1112G>T (p.Ser371Ile) c.269G>T (p.Ser90Ile) n.551G>T c.1019G>T (p.Ser340Ile) c.1247G>T (p.Ser416Ile) c.1154G>T (p.Ser385Ile) | |
X | g.19359593C>A | CA412396978 | PDHA1 | c.1134C>A (p.Ser378Arg) c.*805C>A (n.*805C>A) c.1197C>A (p.Ser399Arg) c.1227C>A (p.Ser409Arg) n.908C>A c.*445C>A (n.*445C>A) c.*568C>A (n.*568C>A) c.1113C>A (p.Ser371Arg) c.270C>A (p.Ser90Arg) n.552C>A c.1020C>A (p.Ser340Arg) c.1248C>A (p.Ser416Arg) c.1155C>A (p.Ser385Arg) | gnomAD v4 |
X | g.19359593C= | CA2418225601 | PDHA1 | c.1134C= (p.Ser378=) c.*805C= (n.*805C=) c.1197C= (p.Ser399=) c.1227C= (p.Ser409=) n.908C= c.*445C= (n.*445C=) c.*568C= (n.*568C=) c.1113C= (p.Ser371=) c.270C= (p.Ser90=) n.552C= c.1020C= (p.Ser340=) c.1248C= (p.Ser416=) c.1155C= (p.Ser385=) | |
X | g.19359593C>G | CA412396981 | PDHA1 | c.1134C>G (p.Ser378Arg) c.*805C>G (n.*805C>G) c.1197C>G (p.Ser399Arg) c.1227C>G (p.Ser409Arg) n.908C>G c.*445C>G (n.*445C>G) c.*568C>G (n.*568C>G) c.1113C>G (p.Ser371Arg) c.270C>G (p.Ser90Arg) n.552C>G c.1020C>G (p.Ser340Arg) c.1248C>G (p.Ser416Arg) c.1155C>G (p.Ser385Arg) | |
X | g.19359593C>T | CA10363213 | PDHA1 | c.1134C>T (p.Ser378=) c.*805C>T (n.*805C>T) c.1197C>T (p.Ser399=) c.1227C>T (p.Ser409=) n.908C>T c.*445C>T (n.*445C>T) c.*568C>T (n.*568C>T) c.1113C>T (p.Ser371=) c.270C>T (p.Ser90=) n.552C>T c.1020C>T (p.Ser340=) c.1248C>T (p.Ser416=) c.1155C>T (p.Ser385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359593_19359594insACATCTACTCCAC | CA2695231674 | PDHA1 | c.1134_1135insACATCTACTCCAC (p.Asp379ThrfsTer9) c.*805_*806insACATCTACTCCAC (n.*805_*806insACATCTACTCCAC) c.1197_1198insACATCTACTCCAC (p.Asp400ThrfsTer9) c.1227_1228insACATCTACTCCAC (p.Asp410ThrfsTer9) n.908_909insACATCTACTCCAC c.*445_*446insACATCTACTCCAC (n.*445_*446insACATCTACTCCAC) c.*568_*569insACATCTACTCCAC (n.*568_*569insACATCTACTCCAC) c.1113_1114insACATCTACTCCAC (p.Asp372ThrfsTer9) c.270_271insACATCTACTCCAC (p.Asp91ThrfsTer9) n.552_553insACATCTACTCCAC c.1020_1021insACATCTACTCCAC (p.Asp341ThrfsTer9) c.1248_1249insACATCTACTCCAC (p.Asp417ThrfsTer9) c.1155_1156insACATCTACTCCAC (p.Asp386ThrfsTer9) | |
X | g.19359594G>A | CA10363214 | PDHA1 | c.1135G>A (p.Asp379Asn) c.*806G>A (n.*806G>A) c.1198G>A (p.Asp400Asn) c.1228G>A (p.Asp410Asn) n.909G>A c.*446G>A (n.*446G>A) c.*569G>A (n.*569G>A) c.1114G>A (p.Asp372Asn) c.271G>A (p.Asp91Asn) n.553G>A c.1021G>A (p.Asp341Asn) c.1249G>A (p.Asp417Asn) c.1156G>A (p.Asp386Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359594G>C | CA412396993 | PDHA1 | c.1135G>C (p.Asp379His) c.*806G>C (n.*806G>C) c.1198G>C (p.Asp400His) c.1228G>C (p.Asp410His) n.909G>C c.*446G>C (n.*446G>C) c.*569G>C (n.*569G>C) c.1114G>C (p.Asp372His) c.271G>C (p.Asp91His) n.553G>C c.1021G>C (p.Asp341His) c.1249G>C (p.Asp417His) c.1156G>C (p.Asp386His) | |
X | g.19359594G= | CA2418225602 | PDHA1 | c.1135G= (p.Asp379=) c.*806G= (n.*806G=) c.1198G= (p.Asp400=) c.1228G= (p.Asp410=) n.909G= c.*446G= (n.*446G=) c.*569G= (n.*569G=) c.1114G= (p.Asp372=) c.271G= (p.Asp91=) n.553G= c.1021G= (p.Asp341=) c.1249G= (p.Asp417=) c.1156G= (p.Asp386=) | |
X | g.19359594G>T | CA412396987 | PDHA1 | c.1135G>T (p.Asp379Tyr) c.*806G>T (n.*806G>T) c.1198G>T (p.Asp400Tyr) c.1228G>T (p.Asp410Tyr) n.909G>T c.*446G>T (n.*446G>T) c.*569G>T (n.*569G>T) c.1114G>T (p.Asp372Tyr) c.271G>T (p.Asp91Tyr) n.553G>T c.1021G>T (p.Asp341Tyr) c.1249G>T (p.Asp417Tyr) c.1156G>T (p.Asp386Tyr) | |
X | g.19359594dup | CA2841780300 | PDHA1 | c.1135dup (p.Asp379GlyfsTer5) c.*806dup (n.*806dup) c.1198dup (p.Asp400GlyfsTer5) c.1228dup (p.Asp410GlyfsTer5) n.909dup c.*446dup (n.*446dup) c.*569dup (n.*569dup) c.1114dup (p.Asp372GlyfsTer5) c.271dup (p.Asp91GlyfsTer5) n.553dup c.1021dup (p.Asp341GlyfsTer5) c.1249dup (p.Asp417GlyfsTer5) c.1156dup (p.Asp386GlyfsTer5) | |
X | g.19359595A>C | CA412396997 | PDHA1 | c.1136A>C (p.Asp379Ala) c.*807A>C (n.*807A>C) c.1199A>C (p.Asp400Ala) c.1229A>C (p.Asp410Ala) n.910A>C c.*447A>C (n.*447A>C) c.*570A>C (n.*570A>C) c.1115A>C (p.Asp372Ala) c.272A>C (p.Asp91Ala) n.554A>C c.1022A>C (p.Asp341Ala) c.1250A>C (p.Asp417Ala) c.1157A>C (p.Asp386Ala) | |
X | g.19359595A>G | CA412396999 | PDHA1 | c.1136A>G (p.Asp379Gly) c.*807A>G (n.*807A>G) c.1199A>G (p.Asp400Gly) c.1229A>G (p.Asp410Gly) n.910A>G c.*447A>G (n.*447A>G) c.*570A>G (n.*570A>G) c.1115A>G (p.Asp372Gly) c.272A>G (p.Asp91Gly) n.554A>G c.1022A>G (p.Asp341Gly) c.1250A>G (p.Asp417Gly) c.1157A>G (p.Asp386Gly) | COSMIC COSMIC COSMIC |
X | g.19359595A>T | CA412397001 | PDHA1 | c.1136A>T (p.Asp379Val) c.*807A>T (n.*807A>T) c.1199A>T (p.Asp400Val) c.1229A>T (p.Asp410Val) n.910A>T c.*447A>T (n.*447A>T) c.*570A>T (n.*570A>T) c.1115A>T (p.Asp372Val) c.272A>T (p.Asp91Val) n.554A>T c.1022A>T (p.Asp341Val) c.1250A>T (p.Asp417Val) c.1157A>T (p.Asp386Val) | |
X | g.19359596C>A | CA412397004 | PDHA1 | c.1137C>A (p.Asp379Glu) c.*808C>A (n.*808C>A) c.1200C>A (p.Asp400Glu) c.1230C>A (p.Asp410Glu) n.911C>A c.*448C>A (n.*448C>A) c.*571C>A (n.*571C>A) c.1116C>A (p.Asp372Glu) c.273C>A (p.Asp91Glu) n.555C>A c.1023C>A (p.Asp341Glu) c.1251C>A (p.Asp417Glu) c.1158C>A (p.Asp386Glu) | gnomAD v4 |
X | g.19359596C>G | CA412397006 | PDHA1 | c.1137C>G (p.Asp379Glu) c.*808C>G (n.*808C>G) c.1200C>G (p.Asp400Glu) c.1230C>G (p.Asp410Glu) n.911C>G c.*448C>G (n.*448C>G) c.*571C>G (n.*571C>G) c.1116C>G (p.Asp372Glu) c.273C>G (p.Asp91Glu) n.555C>G c.1023C>G (p.Asp341Glu) c.1251C>G (p.Asp417Glu) c.1158C>G (p.Asp386Glu) | |
X | g.19359596C>T | CA515486462 | PDHA1 | c.1137C>T (p.Asp379=) c.*808C>T (n.*808C>T) c.1200C>T (p.Asp400=) c.1230C>T (p.Asp410=) n.911C>T c.*448C>T (n.*448C>T) c.*571C>T (n.*571C>T) c.1116C>T (p.Asp372=) c.273C>T (p.Asp91=) n.555C>T c.1023C>T (p.Asp341=) c.1251C>T (p.Asp417=) c.1158C>T (p.Asp386=) | gnomAD v4 |
X | g.19359596_19359608delinsCCCACCTTTTGAA | CA2418225603 | PDHA1 | c.1137_1149delinsCCCACCTTTTGAA (p.Asp379=) c.*808_*820delinsCCCACCTTTTGAA (n.*808_*820delinsCCCACCTTTTGAA) c.1200_1212delinsCCCACCTTTTGAA (p.Asp400=) c.1230_1242delinsCCCACCTTTTGAA (p.Asp410=) n.911_923delinsCCCACCTTTTGAA c.*448_*460delinsCCCACCTTTTGAA (n.*448_*460delinsCCCACCTTTTGAA) c.*571_*583delinsCCCACCTTTTGAA (n.*571_*583delinsCCCACCTTTTGAA) c.1116_1128delinsCCCACCTTTTGAA (p.Asp372=) c.273_285delinsCCCACCTTTTGAA (p.Asp91=) n.555_567delinsCCCACCTTTTGAA c.1023_1035delinsCCCACCTTTTGAA (p.Asp341=) c.1251_1263delinsCCCACCTTTTGAA (p.Asp417=) c.1158_1170delinsCCCACCTTTTGAA (p.Asp386=) | |
X | g.19359597C>A | CA412397014 | PDHA1 | c.1138C>A (p.Pro380Thr) c.*809C>A (n.*809C>A) c.1201C>A (p.Pro401Thr) c.1231C>A (p.Pro411Thr) n.912C>A c.*449C>A (n.*449C>A) c.*572C>A (n.*572C>A) c.1117C>A (p.Pro373Thr) c.274C>A (p.Pro92Thr) n.556C>A c.1024C>A (p.Pro342Thr) c.1252C>A (p.Pro418Thr) c.1159C>A (p.Pro387Thr) | |
X | g.19359597C= | CA2418225604 | PDHA1 | c.1138C= (p.Pro380=) c.*809C= (n.*809C=) c.1201C= (p.Pro401=) c.1231C= (p.Pro411=) n.912C= c.*449C= (n.*449C=) c.*572C= (n.*572C=) c.1117C= (p.Pro373=) c.274C= (p.Pro92=) n.556C= c.1024C= (p.Pro342=) c.1252C= (p.Pro418=) c.1159C= (p.Pro387=) | |
X | g.19359597C>G | CA412397011 | PDHA1 | c.1138C>G (p.Pro380Ala) c.*809C>G (n.*809C>G) c.1201C>G (p.Pro401Ala) c.1231C>G (p.Pro411Ala) n.912C>G c.*449C>G (n.*449C>G) c.*572C>G (n.*572C>G) c.1117C>G (p.Pro373Ala) c.274C>G (p.Pro92Ala) n.556C>G c.1024C>G (p.Pro342Ala) c.1252C>G (p.Pro418Ala) c.1159C>G (p.Pro387Ala) | |
X | g.19359597C>T | CA10363215 | PDHA1 | c.1138C>T (p.Pro380Ser) c.*809C>T (n.*809C>T) c.1201C>T (p.Pro401Ser) c.1231C>T (p.Pro411Ser) n.912C>T c.*449C>T (n.*449C>T) c.*572C>T (n.*572C>T) c.1117C>T (p.Pro373Ser) c.274C>T (p.Pro92Ser) n.556C>T c.1024C>T (p.Pro342Ser) c.1252C>T (p.Pro418Ser) c.1159C>T (p.Pro387Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359597_19359608del | CA915950758 | PDHA1 | c.1138_1149del (p.Pro380_Glu383del) c.*809_*820del (n.*809_*820del) c.1201_1212del (p.Pro401_Glu404del) c.1231_1242del (p.Pro411_Glu414del) n.912_923del c.*449_*460del (n.*449_*460del) c.*572_*583del (n.*572_*583del) c.1117_1128del (p.Pro373_Glu376del) c.274_285del (p.Pro92_Glu95del) n.556_567del c.1024_1035del (p.Pro342_Glu345del) c.1252_1263del (p.Pro418_Glu421del) c.1159_1170del (p.Pro387_Glu390del) | ClinVar dbSNP |
X | g.19359598C>A | CA412397017 | PDHA1 | c.1139C>A (p.Pro380Gln) c.*810C>A (n.*810C>A) c.1202C>A (p.Pro401Gln) c.1232C>A (p.Pro411Gln) n.913C>A c.*450C>A (n.*450C>A) c.*573C>A (n.*573C>A) c.1118C>A (p.Pro373Gln) c.275C>A (p.Pro92Gln) n.557C>A c.1025C>A (p.Pro342Gln) c.1253C>A (p.Pro418Gln) c.1160C>A (p.Pro387Gln) | |
X | g.19359598C= | CA2418225605 | PDHA1 | c.1139C= (p.Pro380=) c.*810C= (n.*810C=) c.1202C= (p.Pro401=) c.1232C= (p.Pro411=) n.913C= c.*450C= (n.*450C=) c.*573C= (n.*573C=) c.1118C= (p.Pro373=) c.275C= (p.Pro92=) n.557C= c.1025C= (p.Pro342=) c.1253C= (p.Pro418=) c.1160C= (p.Pro387=) | |
X | g.19359598C>G | CA412397019 | PDHA1 | c.1139C>G (p.Pro380Arg) c.*810C>G (n.*810C>G) c.1202C>G (p.Pro401Arg) c.1232C>G (p.Pro411Arg) n.913C>G c.*450C>G (n.*450C>G) c.*573C>G (n.*573C>G) c.1118C>G (p.Pro373Arg) c.275C>G (p.Pro92Arg) n.557C>G c.1025C>G (p.Pro342Arg) c.1253C>G (p.Pro418Arg) c.1160C>G (p.Pro387Arg) | |
X | g.19359598C>T | CA10363216 | PDHA1 | c.1139C>T (p.Pro380Leu) c.*810C>T (n.*810C>T) c.1202C>T (p.Pro401Leu) c.1232C>T (p.Pro411Leu) n.913C>T c.*450C>T (n.*450C>T) c.*573C>T (n.*573C>T) c.1118C>T (p.Pro373Leu) c.275C>T (p.Pro92Leu) n.557C>T c.1025C>T (p.Pro342Leu) c.1253C>T (p.Pro418Leu) c.1160C>T (p.Pro387Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359599A>C | CA515486465 | PDHA1 | c.1140A>C (p.Pro380=) c.*811A>C (n.*811A>C) c.1203A>C (p.Pro401=) c.1233A>C (p.Pro411=) n.914A>C c.*451A>C (n.*451A>C) c.*574A>C (n.*574A>C) c.1119A>C (p.Pro373=) c.276A>C (p.Pro92=) n.558A>C c.1026A>C (p.Pro342=) c.1254A>C (p.Pro418=) c.1161A>C (p.Pro387=) | |
X | g.19359599A>G | CA515486463 | PDHA1 | c.1140A>G (p.Pro380=) c.*811A>G (n.*811A>G) c.1203A>G (p.Pro401=) c.1233A>G (p.Pro411=) n.914A>G c.*451A>G (n.*451A>G) c.*574A>G (n.*574A>G) c.1119A>G (p.Pro373=) c.276A>G (p.Pro92=) n.558A>G c.1026A>G (p.Pro342=) c.1254A>G (p.Pro418=) c.1161A>G (p.Pro387=) | |
X | g.19359599A>T | CA515486464 | PDHA1 | c.1140A>T (p.Pro380=) c.*811A>T (n.*811A>T) c.1203A>T (p.Pro401=) c.1233A>T (p.Pro411=) n.914A>T c.*451A>T (n.*451A>T) c.*574A>T (n.*574A>T) c.1119A>T (p.Pro373=) c.276A>T (p.Pro92=) n.558A>T c.1026A>T (p.Pro342=) c.1254A>T (p.Pro418=) c.1161A>T (p.Pro387=) | |
X | g.19359600C>A | CA412397022 | PDHA1 | c.1141C>A (p.Pro381Thr) c.*812C>A (n.*812C>A) c.1204C>A (p.Pro402Thr) c.1234C>A (p.Pro412Thr) n.915C>A c.*452C>A (n.*452C>A) c.*575C>A (n.*575C>A) c.1120C>A (p.Pro374Thr) c.277C>A (p.Pro93Thr) n.559C>A c.1027C>A (p.Pro343Thr) c.1255C>A (p.Pro419Thr) c.1162C>A (p.Pro388Thr) | |
X | g.19359600C>G | CA412397024 | PDHA1 | c.1141C>G (p.Pro381Ala) c.*812C>G (n.*812C>G) c.1204C>G (p.Pro402Ala) c.1234C>G (p.Pro412Ala) n.915C>G c.*452C>G (n.*452C>G) c.*575C>G (n.*575C>G) c.1120C>G (p.Pro374Ala) c.277C>G (p.Pro93Ala) n.559C>G c.1027C>G (p.Pro343Ala) c.1255C>G (p.Pro419Ala) c.1162C>G (p.Pro388Ala) | |
X | g.19359600C>T | CA412397026 | PDHA1 | c.1141C>T (p.Pro381Ser) c.*812C>T (n.*812C>T) c.1204C>T (p.Pro402Ser) c.1234C>T (p.Pro412Ser) n.915C>T c.*452C>T (n.*452C>T) c.*575C>T (n.*575C>T) c.1120C>T (p.Pro374Ser) c.277C>T (p.Pro93Ser) n.559C>T c.1027C>T (p.Pro343Ser) c.1255C>T (p.Pro419Ser) c.1162C>T (p.Pro388Ser) | |
X | g.19359601C>A | CA412397030 | PDHA1 | c.1142C>A (p.Pro381His) c.*813C>A (n.*813C>A) c.1205C>A (p.Pro402His) c.1235C>A (p.Pro412His) n.916C>A c.*453C>A (n.*453C>A) c.*576C>A (n.*576C>A) c.1121C>A (p.Pro374His) c.278C>A (p.Pro93His) n.560C>A c.1028C>A (p.Pro343His) c.1256C>A (p.Pro419His) c.1163C>A (p.Pro388His) | |
X | g.19359601C>G | CA412397032 | PDHA1 | c.1142C>G (p.Pro381Arg) c.*813C>G (n.*813C>G) c.1205C>G (p.Pro402Arg) c.1235C>G (p.Pro412Arg) n.916C>G c.*453C>G (n.*453C>G) c.*576C>G (n.*576C>G) c.1121C>G (p.Pro374Arg) c.278C>G (p.Pro93Arg) n.560C>G c.1028C>G (p.Pro343Arg) c.1256C>G (p.Pro419Arg) c.1163C>G (p.Pro388Arg) | |
X | g.19359601C>T | CA412397031 | PDHA1 | c.1142C>T (p.Pro381Leu) c.*813C>T (n.*813C>T) c.1205C>T (p.Pro402Leu) c.1235C>T (p.Pro412Leu) n.916C>T c.*453C>T (n.*453C>T) c.*576C>T (n.*576C>T) c.1121C>T (p.Pro374Leu) c.278C>T (p.Pro93Leu) n.560C>T c.1028C>T (p.Pro343Leu) c.1256C>T (p.Pro419Leu) c.1163C>T (p.Pro388Leu) | |
X | g.19359602T>A | CA515486466 | PDHA1 | c.1143T>A (p.Pro381=) c.*814T>A (n.*814T>A) c.1206T>A (p.Pro402=) c.1236T>A (p.Pro412=) n.917T>A c.*454T>A (n.*454T>A) c.*577T>A (n.*577T>A) c.1122T>A (p.Pro374=) c.279T>A (p.Pro93=) n.561T>A c.1029T>A (p.Pro343=) c.1257T>A (p.Pro419=) c.1164T>A (p.Pro388=) | |
X | g.19359602T>C | CA515486467 | PDHA1 | c.1143T>C (p.Pro381=) c.*814T>C (n.*814T>C) c.1206T>C (p.Pro402=) c.1236T>C (p.Pro412=) n.917T>C c.*454T>C (n.*454T>C) c.*577T>C (n.*577T>C) c.1122T>C (p.Pro374=) c.279T>C (p.Pro93=) n.561T>C c.1029T>C (p.Pro343=) c.1257T>C (p.Pro419=) c.1164T>C (p.Pro388=) | |
X | g.19359602T>G | CA515486468 | PDHA1 | c.1143T>G (p.Pro381=) c.*814T>G (n.*814T>G) c.1206T>G (p.Pro402=) c.1236T>G (p.Pro412=) n.917T>G c.*454T>G (n.*454T>G) c.*577T>G (n.*577T>G) c.1122T>G (p.Pro374=) c.279T>G (p.Pro93=) n.561T>G c.1029T>G (p.Pro343=) c.1257T>G (p.Pro419=) c.1164T>G (p.Pro388=) | |
X | g.19359605dup | CA2841780301 | PDHA1 | c.1146dup (p.Glu383Ter) c.*817dup (n.*817dup) c.1209dup (p.Glu404Ter) c.1239dup (p.Glu414Ter) n.920dup c.*457dup (n.*457dup) c.*580dup (n.*580dup) c.1125dup (p.Glu376Ter) c.282dup (p.Glu95Ter) n.564dup c.1032dup (p.Glu345Ter) c.1260dup (p.Glu421Ter) c.1167dup (p.Glu390Ter) | |
X | g.19359604_19359605dup | CA2695231675 | PDHA1 | c.1145_1146dup (p.Glu383LeufsTer?) c.*816_*817dup (n.*816_*817dup) c.1208_1209dup (p.Glu404LeufsTer?) c.1238_1239dup (p.Glu414LeufsTer?) n.919_920dup c.*456_*457dup (n.*456_*457dup) c.*579_*580dup (n.*579_*580dup) c.1124_1125dup (p.Glu376LeufsTer?) c.281_282dup (p.Glu95LeufsTer?) n.563_564dup c.1031_1032dup (p.Glu345LeufsTer?) c.1259_1260dup (p.Glu421LeufsTer?) c.1166_1167dup (p.Glu390LeufsTer?) | |
X | g.19359605del | CA515486469 | PDHA1 | c.1146del (p.Phe382LeufsTer?) c.*817del (n.*817del) c.1209del (p.Phe403LeufsTer?) c.1239del (p.Phe413LeufsTer?) n.920del c.*457del (n.*457del) c.*580del (n.*580del) c.1125del (p.Phe375LeufsTer?) c.282del (p.Phe94LeufsTer?) n.564del c.1032del (p.Phe344LeufsTer?) c.1260del (p.Phe420LeufsTer?) c.1167del (p.Phe389LeufsTer?) | COSMIC COSMIC |
X | g.19359603T>A | CA412397033 | PDHA1 | c.1144T>A (p.Phe382Ile) c.*815T>A (n.*815T>A) c.1207T>A (p.Phe403Ile) c.1237T>A (p.Phe413Ile) n.918T>A c.*455T>A (n.*455T>A) c.*578T>A (n.*578T>A) c.1123T>A (p.Phe375Ile) c.280T>A (p.Phe94Ile) n.562T>A c.1030T>A (p.Phe344Ile) c.1258T>A (p.Phe420Ile) c.1165T>A (p.Phe389Ile) | |
X | g.19359603T>C | CA412397035 | PDHA1 | c.1144T>C (p.Phe382Leu) c.*815T>C (n.*815T>C) c.1207T>C (p.Phe403Leu) c.1237T>C (p.Phe413Leu) n.918T>C c.*455T>C (n.*455T>C) c.*578T>C (n.*578T>C) c.1123T>C (p.Phe375Leu) c.280T>C (p.Phe94Leu) n.562T>C c.1030T>C (p.Phe344Leu) c.1258T>C (p.Phe420Leu) c.1165T>C (p.Phe389Leu) | |
X | g.19359603T>G | CA412397037 | PDHA1 | c.1144T>G (p.Phe382Val) c.*815T>G (n.*815T>G) c.1207T>G (p.Phe403Val) c.1237T>G (p.Phe413Val) n.918T>G c.*455T>G (n.*455T>G) c.*578T>G (n.*578T>G) c.1123T>G (p.Phe375Val) c.280T>G (p.Phe94Val) n.562T>G c.1030T>G (p.Phe344Val) c.1258T>G (p.Phe420Val) c.1165T>G (p.Phe389Val) | |
X | g.19359604T>A | CA412397040 | PDHA1 | c.1145T>A (p.Phe382Tyr) c.*816T>A (n.*816T>A) c.1208T>A (p.Phe403Tyr) c.1238T>A (p.Phe413Tyr) n.919T>A c.*456T>A (n.*456T>A) c.*579T>A (n.*579T>A) c.1124T>A (p.Phe375Tyr) c.281T>A (p.Phe94Tyr) n.563T>A c.1031T>A (p.Phe344Tyr) c.1259T>A (p.Phe420Tyr) c.1166T>A (p.Phe389Tyr) | |
X | g.19359604T>C | CA412397045 | PDHA1 | c.1145T>C (p.Phe382Ser) c.*816T>C (n.*816T>C) c.1208T>C (p.Phe403Ser) c.1238T>C (p.Phe413Ser) n.919T>C c.*456T>C (n.*456T>C) c.*579T>C (n.*579T>C) c.1124T>C (p.Phe375Ser) c.281T>C (p.Phe94Ser) n.563T>C c.1031T>C (p.Phe344Ser) c.1259T>C (p.Phe420Ser) c.1166T>C (p.Phe389Ser) | |
X | g.19359604T>G | CA412397047 | PDHA1 | c.1145T>G (p.Phe382Cys) c.*816T>G (n.*816T>G) c.1208T>G (p.Phe403Cys) c.1238T>G (p.Phe413Cys) n.919T>G c.*456T>G (n.*456T>G) c.*579T>G (n.*579T>G) c.1124T>G (p.Phe375Cys) c.281T>G (p.Phe94Cys) n.563T>G c.1031T>G (p.Phe344Cys) c.1259T>G (p.Phe420Cys) c.1166T>G (p.Phe389Cys) | |
X | g.19359605T>A | CA412397050 | PDHA1 | c.1146T>A (p.Phe382Leu) c.*817T>A (n.*817T>A) c.1209T>A (p.Phe403Leu) c.1239T>A (p.Phe413Leu) n.920T>A c.*457T>A (n.*457T>A) c.*580T>A (n.*580T>A) c.1125T>A (p.Phe375Leu) c.282T>A (p.Phe94Leu) n.564T>A c.1032T>A (p.Phe344Leu) c.1260T>A (p.Phe420Leu) c.1167T>A (p.Phe389Leu) | |
X | g.19359605T>C | CA515486470 | PDHA1 | c.1146T>C (p.Phe382=) c.*817T>C (n.*817T>C) c.1209T>C (p.Phe403=) c.1239T>C (p.Phe413=) n.920T>C c.*457T>C (n.*457T>C) c.*580T>C (n.*580T>C) c.1125T>C (p.Phe375=) c.282T>C (p.Phe94=) n.564T>C c.1032T>C (p.Phe344=) c.1260T>C (p.Phe420=) c.1167T>C (p.Phe389=) | |
X | g.19359605T>G | CA412397053 | PDHA1 | c.1146T>G (p.Phe382Leu) c.*817T>G (n.*817T>G) c.1209T>G (p.Phe403Leu) c.1239T>G (p.Phe413Leu) n.920T>G c.*457T>G (n.*457T>G) c.*580T>G (n.*580T>G) c.1125T>G (p.Phe375Leu) c.282T>G (p.Phe94Leu) n.564T>G c.1032T>G (p.Phe344Leu) c.1260T>G (p.Phe420Leu) c.1167T>G (p.Phe389Leu) | |
X | g.19359606G>A | CA412397057 | PDHA1 | c.1147G>A (p.Glu383Lys) c.*818G>A (n.*818G>A) c.1210G>A (p.Glu404Lys) c.1240G>A (p.Glu414Lys) n.921G>A c.*458G>A (n.*458G>A) c.*581G>A (n.*581G>A) c.1126G>A (p.Glu376Lys) c.283G>A (p.Glu95Lys) n.565G>A c.1033G>A (p.Glu345Lys) c.1261G>A (p.Glu421Lys) c.1168G>A (p.Glu390Lys) | |
X | g.19359606G>C | CA412397059 | PDHA1 | c.1147G>C (p.Glu383Gln) c.*818G>C (n.*818G>C) c.1210G>C (p.Glu404Gln) c.1240G>C (p.Glu414Gln) n.921G>C c.*458G>C (n.*458G>C) c.*581G>C (n.*581G>C) c.1126G>C (p.Glu376Gln) c.283G>C (p.Glu95Gln) n.565G>C c.1033G>C (p.Glu345Gln) c.1261G>C (p.Glu421Gln) c.1168G>C (p.Glu390Gln) | |
X | g.19359606G>T | CA412397061 | PDHA1 | c.1147G>T (p.Glu383Ter) c.*818G>T (n.*818G>T) c.1210G>T (p.Glu404Ter) c.1240G>T (p.Glu414Ter) n.921G>T c.*458G>T (n.*458G>T) c.*581G>T (n.*581G>T) c.1126G>T (p.Glu376Ter) c.283G>T (p.Glu95Ter) n.565G>T c.1033G>T (p.Glu345Ter) c.1261G>T (p.Glu421Ter) c.1168G>T (p.Glu390Ter) | |
X | g.19359607A>C | CA412397069 | PDHA1 | c.1148A>C (p.Glu383Ala) c.*819A>C (n.*819A>C) c.1211A>C (p.Glu404Ala) c.1241A>C (p.Glu414Ala) n.922A>C c.*459A>C (n.*459A>C) c.*582A>C (n.*582A>C) c.1127A>C (p.Glu376Ala) c.284A>C (p.Glu95Ala) n.566A>C c.1034A>C (p.Glu345Ala) c.1262A>C (p.Glu421Ala) c.1169A>C (p.Glu390Ala) | |
X | g.19359607A>G | CA412397066 | PDHA1 | c.1148A>G (p.Glu383Gly) c.*819A>G (n.*819A>G) c.1211A>G (p.Glu404Gly) c.1241A>G (p.Glu414Gly) n.922A>G c.*459A>G (n.*459A>G) c.*582A>G (n.*582A>G) c.1127A>G (p.Glu376Gly) c.284A>G (p.Glu95Gly) n.566A>G c.1034A>G (p.Glu345Gly) c.1262A>G (p.Glu421Gly) c.1169A>G (p.Glu390Gly) | |
X | g.19359607A>T | CA412397065 | PDHA1 | c.1148A>T (p.Glu383Val) c.*819A>T (n.*819A>T) c.1211A>T (p.Glu404Val) c.1241A>T (p.Glu414Val) n.922A>T c.*459A>T (n.*459A>T) c.*582A>T (n.*582A>T) c.1127A>T (p.Glu376Val) c.284A>T (p.Glu95Val) n.566A>T c.1034A>T (p.Glu345Val) c.1262A>T (p.Glu421Val) c.1169A>T (p.Glu390Val) | |
X | g.19359608A= | CA2418225606 | PDHA1 | c.1149A= (p.Glu383=) c.*820A= (n.*820A=) c.1212A= (p.Glu404=) c.1242A= (p.Glu414=) n.923A= c.*460A= (n.*460A=) c.*583A= (n.*583A=) c.1128A= (p.Glu376=) c.285A= (p.Glu95=) n.567A= c.1035A= (p.Glu345=) c.1263A= (p.Glu421=) c.1170A= (p.Glu390=) | |
X | g.19359608A>C | CA10363217 | PDHA1 | c.1149A>C (p.Glu383Asp) c.*820A>C (n.*820A>C) c.1212A>C (p.Glu404Asp) c.1242A>C (p.Glu414Asp) n.923A>C c.*460A>C (n.*460A>C) c.*583A>C (n.*583A>C) c.1128A>C (p.Glu376Asp) c.285A>C (p.Glu95Asp) n.567A>C c.1035A>C (p.Glu345Asp) c.1263A>C (p.Glu421Asp) c.1170A>C (p.Glu390Asp) | dbSNP ExAC gnomAD v2 |
X | g.19359608A>G | CA515486471 | PDHA1 | c.1149A>G (p.Glu383=) c.*820A>G (n.*820A>G) c.1212A>G (p.Glu404=) c.1242A>G (p.Glu414=) n.923A>G c.*460A>G (n.*460A>G) c.*583A>G (n.*583A>G) c.1128A>G (p.Glu376=) c.285A>G (p.Glu95=) n.567A>G c.1035A>G (p.Glu345=) c.1263A>G (p.Glu421=) c.1170A>G (p.Glu390=) | |
X | g.19359608A>T | CA412397075 | PDHA1 | c.1149A>T (p.Glu383Asp) c.*820A>T (n.*820A>T) c.1212A>T (p.Glu404Asp) c.1242A>T (p.Glu414Asp) n.923A>T c.*460A>T (n.*460A>T) c.*583A>T (n.*583A>T) c.1128A>T (p.Glu376Asp) c.285A>T (p.Glu95Asp) n.567A>T c.1035A>T (p.Glu345Asp) c.1263A>T (p.Glu421Asp) c.1170A>T (p.Glu390Asp) | |
X | g.19359609G>A | CA412397079 | PDHA1 | c.1150G>A (p.Val384Ile) c.*821G>A (n.*821G>A) c.1213G>A (p.Val405Ile) c.1243G>A (p.Val415Ile) n.924G>A c.*461G>A (n.*461G>A) c.*584G>A (n.*584G>A) c.1129G>A (p.Val377Ile) c.286G>A (p.Val96Ile) n.568G>A c.1036G>A (p.Val346Ile) c.1264G>A (p.Val422Ile) c.1171G>A (p.Val391Ile) | |
X | g.19359609G>C | CA412397084 | PDHA1 | c.1150G>C (p.Val384Leu) c.*821G>C (n.*821G>C) c.1213G>C (p.Val405Leu) c.1243G>C (p.Val415Leu) n.924G>C c.*461G>C (n.*461G>C) c.*584G>C (n.*584G>C) c.1129G>C (p.Val377Leu) c.286G>C (p.Val96Leu) n.568G>C c.1036G>C (p.Val346Leu) c.1264G>C (p.Val422Leu) c.1171G>C (p.Val391Leu) | |
X | g.19359609G>T | CA412397082 | PDHA1 | c.1150G>T (p.Val384Phe) c.*821G>T (n.*821G>T) c.1213G>T (p.Val405Phe) c.1243G>T (p.Val415Phe) n.924G>T c.*461G>T (n.*461G>T) c.*584G>T (n.*584G>T) c.1129G>T (p.Val377Phe) c.286G>T (p.Val96Phe) n.568G>T c.1036G>T (p.Val346Phe) c.1264G>T (p.Val422Phe) c.1171G>T (p.Val391Phe) | |
X | g.19359610T>A | CA412397089 | PDHA1 | c.1151T>A (p.Val384Asp) c.*822T>A (n.*822T>A) c.1214T>A (p.Val405Asp) c.1244T>A (p.Val415Asp) n.925T>A c.*462T>A (n.*462T>A) c.*585T>A (n.*585T>A) c.1130T>A (p.Val377Asp) c.287T>A (p.Val96Asp) n.569T>A c.1037T>A (p.Val346Asp) c.1265T>A (p.Val422Asp) c.1172T>A (p.Val391Asp) | |
X | g.19359610T>C | CA412397093 | PDHA1 | c.1151T>C (p.Val384Ala) c.*822T>C (n.*822T>C) c.1214T>C (p.Val405Ala) c.1244T>C (p.Val415Ala) n.925T>C c.*462T>C (n.*462T>C) c.*585T>C (n.*585T>C) c.1130T>C (p.Val377Ala) c.287T>C (p.Val96Ala) n.569T>C c.1037T>C (p.Val346Ala) c.1265T>C (p.Val422Ala) c.1172T>C (p.Val391Ala) | |
X | g.19359610T>G | CA412397096 | PDHA1 | c.1151T>G (p.Val384Gly) c.*822T>G (n.*822T>G) c.1214T>G (p.Val405Gly) c.1244T>G (p.Val415Gly) n.925T>G c.*462T>G (n.*462T>G) c.*585T>G (n.*585T>G) c.1130T>G (p.Val377Gly) c.287T>G (p.Val96Gly) n.569T>G c.1037T>G (p.Val346Gly) c.1265T>G (p.Val422Gly) c.1172T>G (p.Val391Gly) | |
X | g.19359611T>A | CA515486472 | PDHA1 | c.1152T>A (p.Val384=) c.*823T>A (n.*823T>A) c.1215T>A (p.Val405=) c.1245T>A (p.Val415=) n.926T>A c.*463T>A (n.*463T>A) c.*586T>A (n.*586T>A) c.1131T>A (p.Val377=) c.288T>A (p.Val96=) n.570T>A c.1038T>A (p.Val346=) c.1266T>A (p.Val422=) c.1173T>A (p.Val391=) | |
X | g.19359611T>C | CA515486474 | PDHA1 | c.1152T>C (p.Val384=) c.*823T>C (n.*823T>C) c.1215T>C (p.Val405=) c.1245T>C (p.Val415=) n.926T>C c.*463T>C (n.*463T>C) c.*586T>C (n.*586T>C) c.1131T>C (p.Val377=) c.288T>C (p.Val96=) n.570T>C c.1038T>C (p.Val346=) c.1266T>C (p.Val422=) c.1173T>C (p.Val391=) | gnomAD v4 |
X | g.19359611T>G | CA515486473 | PDHA1 | c.1152T>G (p.Val384=) c.*823T>G (n.*823T>G) c.1215T>G (p.Val405=) c.1245T>G (p.Val415=) n.926T>G c.*463T>G (n.*463T>G) c.*586T>G (n.*586T>G) c.1131T>G (p.Val377=) c.288T>G (p.Val96=) n.570T>G c.1038T>G (p.Val346=) c.1266T>G (p.Val422=) c.1173T>G (p.Val391=) | |
X | g.19359612C>A | CA412397100 | PDHA1 | c.1153C>A (p.Arg385Ser) c.*824C>A (n.*824C>A) c.1216C>A (p.Arg406Ser) c.1246C>A (p.Arg416Ser) n.927C>A c.*464C>A (n.*464C>A) c.*587C>A (n.*587C>A) c.1132C>A (p.Arg378Ser) c.289C>A (p.Arg97Ser) n.571C>A c.1039C>A (p.Arg347Ser) c.1267C>A (p.Arg423Ser) c.1174C>A (p.Arg392Ser) | COSMIC COSMIC COSMIC |
X | g.19359612C= | CA2418225607 | PDHA1 | c.1153C= (p.Arg385=) c.*824C= (n.*824C=) c.1216C= (p.Arg406=) c.1246C= (p.Arg416=) n.927C= c.*464C= (n.*464C=) c.*587C= (n.*587C=) c.1132C= (p.Arg378=) c.289C= (p.Arg97=) n.571C= c.1039C= (p.Arg347=) c.1267C= (p.Arg423=) c.1174C= (p.Arg392=) | |
X | g.19359612C>G | CA412397102 | PDHA1 | c.1153C>G (p.Arg385Gly) c.*824C>G (n.*824C>G) c.1216C>G (p.Arg406Gly) c.1246C>G (p.Arg416Gly) n.927C>G c.*464C>G (n.*464C>G) c.*587C>G (n.*587C>G) c.1132C>G (p.Arg378Gly) c.289C>G (p.Arg97Gly) n.571C>G c.1039C>G (p.Arg347Gly) c.1267C>G (p.Arg423Gly) c.1174C>G (p.Arg392Gly) | |
X | g.19359612C>T | CA323094 | PDHA1 | c.1153C>T (p.Arg385Cys) c.*824C>T (n.*824C>T) c.1216C>T (p.Arg406Cys) c.1246C>T (p.Arg416Cys) n.927C>T c.*464C>T (n.*464C>T) c.*587C>T (n.*587C>T) c.1132C>T (p.Arg378Cys) c.289C>T (p.Arg97Cys) n.571C>T c.1039C>T (p.Arg347Cys) c.1267C>T (p.Arg423Cys) c.1174C>T (p.Arg392Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.19359613_19359620del | CA2573055208 | PDHA1 | c.1154_1161del (p.Arg385GlnfsTer7) c.*825_*832del (n.*825_*832del) c.1217_1224del (p.Arg406GlnfsTer7) c.1247_1254del (p.Arg416GlnfsTer7) n.928_935del c.*465_*472del (n.*465_*472del) c.*588_*595del (n.*588_*595del) c.1133_1140del (p.Arg378GlnfsTer7) c.290_297del (p.Arg97GlnfsTer7) n.572_579del c.1040_1047del (p.Arg347GlnfsTer7) c.1268_1275del (p.Arg423GlnfsTer7) c.1175_1182del (p.Arg392GlnfsTer7) | ClinVar dbSNP |
X | g.19359613G>A | CA121205 | PDHA1 | c.1154G>A (p.Arg385His) c.*825G>A (n.*825G>A) c.1217G>A (p.Arg406His) c.1247G>A (p.Arg416His) n.928G>A c.*465G>A (n.*465G>A) c.*588G>A (n.*588G>A) c.1133G>A (p.Arg378His) c.290G>A (p.Arg97His) n.572G>A c.1040G>A (p.Arg347His) c.1268G>A (p.Arg423His) c.1175G>A (p.Arg392His) | ClinVar dbSNP ExAC |
X | g.19359613G>C | CA412397111 | PDHA1 | c.1154G>C (p.Arg385Pro) c.*825G>C (n.*825G>C) c.1217G>C (p.Arg406Pro) c.1247G>C (p.Arg416Pro) n.928G>C c.*465G>C (n.*465G>C) c.*588G>C (n.*588G>C) c.1133G>C (p.Arg378Pro) c.290G>C (p.Arg97Pro) n.572G>C c.1040G>C (p.Arg347Pro) c.1268G>C (p.Arg423Pro) c.1175G>C (p.Arg392Pro) | |
X | g.19359613G= | CA2418225608 | PDHA1 | c.1154G= (p.Arg385=) c.*825G= (n.*825G=) c.1217G= (p.Arg406=) c.1247G= (p.Arg416=) n.928G= c.*465G= (n.*465G=) c.*588G= (n.*588G=) c.1133G= (p.Arg378=) c.290G= (p.Arg97=) n.572G= c.1040G= (p.Arg347=) c.1268G= (p.Arg423=) c.1175G= (p.Arg392=) | |
X | g.19359613G>T | CA10605241 | PDHA1 | c.1154G>T (p.Arg385Leu) c.*825G>T (n.*825G>T) c.1217G>T (p.Arg406Leu) c.1247G>T (p.Arg416Leu) n.928G>T c.*465G>T (n.*465G>T) c.*588G>T (n.*588G>T) c.1133G>T (p.Arg378Leu) c.290G>T (p.Arg97Leu) n.572G>T c.1040G>T (p.Arg347Leu) c.1268G>T (p.Arg423Leu) c.1175G>T (p.Arg392Leu) | ClinVar dbSNP |
X | g.19359614T>A | CA515486475 | PDHA1 | c.1155T>A (p.Arg385=) c.*826T>A (n.*826T>A) c.1218T>A (p.Arg406=) c.1248T>A (p.Arg416=) n.929T>A c.*466T>A (n.*466T>A) c.*589T>A (n.*589T>A) c.1134T>A (p.Arg378=) c.291T>A (p.Arg97=) n.573T>A c.1041T>A (p.Arg347=) c.1269T>A (p.Arg423=) c.1176T>A (p.Arg392=) | gnomAD v3 gnomAD v4 |
X | g.19359614T>C | CA515486476 | PDHA1 | c.1155T>C (p.Arg385=) c.*826T>C (n.*826T>C) c.1218T>C (p.Arg406=) c.1248T>C (p.Arg416=) n.929T>C c.*466T>C (n.*466T>C) c.*589T>C (n.*589T>C) c.1134T>C (p.Arg378=) c.291T>C (p.Arg97=) n.573T>C c.1041T>C (p.Arg347=) c.1269T>C (p.Arg423=) c.1176T>C (p.Arg392=) | |
X | g.19359614T>G | CA515486477 | PDHA1 | c.1155T>G (p.Arg385=) c.*826T>G (n.*826T>G) c.1218T>G (p.Arg406=) c.1248T>G (p.Arg416=) n.929T>G c.*466T>G (n.*466T>G) c.*589T>G (n.*589T>G) c.1134T>G (p.Arg378=) c.291T>G (p.Arg97=) n.573T>G c.1041T>G (p.Arg347=) c.1269T>G (p.Arg423=) c.1176T>G (p.Arg392=) | |
X | g.19359615G>A | CA412397120 | PDHA1 | c.1156G>A (p.Gly386Ser) c.*827G>A (n.*827G>A) c.1219G>A (p.Gly407Ser) c.1249G>A (p.Gly417Ser) n.930G>A c.*467G>A (n.*467G>A) c.*590G>A (n.*590G>A) c.1135G>A (p.Gly379Ser) c.292G>A (p.Gly98Ser) n.574G>A c.1042G>A (p.Gly348Ser) c.1270G>A (p.Gly424Ser) c.1177G>A (p.Gly393Ser) | |
X | g.19359615G>C | CA412397123 | PDHA1 | c.1156G>C (p.Gly386Arg) c.*827G>C (n.*827G>C) c.1219G>C (p.Gly407Arg) c.1249G>C (p.Gly417Arg) n.930G>C c.*467G>C (n.*467G>C) c.*590G>C (n.*590G>C) c.1135G>C (p.Gly379Arg) c.292G>C (p.Gly98Arg) n.574G>C c.1042G>C (p.Gly348Arg) c.1270G>C (p.Gly424Arg) c.1177G>C (p.Gly393Arg) | |
X | g.19359615G>T | CA412397125 | PDHA1 | c.1156G>T (p.Gly386Cys) c.*827G>T (n.*827G>T) c.1219G>T (p.Gly407Cys) c.1249G>T (p.Gly417Cys) n.930G>T c.*467G>T (n.*467G>T) c.*590G>T (n.*590G>T) c.1135G>T (p.Gly379Cys) c.292G>T (p.Gly98Cys) n.574G>T c.1042G>T (p.Gly348Cys) c.1270G>T (p.Gly424Cys) c.1177G>T (p.Gly393Cys) | |
X | g.19359616G>A | CA412397136 | PDHA1 | c.1157G>A (p.Gly386Asp) c.*828G>A (n.*828G>A) c.1220G>A (p.Gly407Asp) c.1250G>A (p.Gly417Asp) n.931G>A c.*468G>A (n.*468G>A) c.*591G>A (n.*591G>A) c.1136G>A (p.Gly379Asp) c.293G>A (p.Gly98Asp) n.575G>A c.1043G>A (p.Gly348Asp) c.1271G>A (p.Gly424Asp) c.1178G>A (p.Gly393Asp) | |
X | g.19359616G>C | CA412397130 | PDHA1 | c.1157G>C (p.Gly386Ala) c.*828G>C (n.*828G>C) c.1220G>C (p.Gly407Ala) c.1250G>C (p.Gly417Ala) n.931G>C c.*468G>C (n.*468G>C) c.*591G>C (n.*591G>C) c.1136G>C (p.Gly379Ala) c.293G>C (p.Gly98Ala) n.575G>C c.1043G>C (p.Gly348Ala) c.1271G>C (p.Gly424Ala) c.1178G>C (p.Gly393Ala) | |
X | g.19359616G>T | CA412397133 | PDHA1 | c.1157G>T (p.Gly386Val) c.*828G>T (n.*828G>T) c.1220G>T (p.Gly407Val) c.1250G>T (p.Gly417Val) n.931G>T c.*468G>T (n.*468G>T) c.*591G>T (n.*591G>T) c.1136G>T (p.Gly379Val) c.293G>T (p.Gly98Val) n.575G>T c.1043G>T (p.Gly348Val) c.1271G>T (p.Gly424Val) c.1178G>T (p.Gly393Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.19359617T>A | CA515486478 | PDHA1 | c.1158T>A (p.Gly386=) c.*829T>A (n.*829T>A) c.1221T>A (p.Gly407=) c.1251T>A (p.Gly417=) n.932T>A c.*469T>A (n.*469T>A) c.*592T>A (n.*592T>A) c.1137T>A (p.Gly379=) c.294T>A (p.Gly98=) n.576T>A c.1044T>A (p.Gly348=) c.1272T>A (p.Gly424=) c.1179T>A (p.Gly393=) | |
X | g.19359617T>C | CA10363218 | PDHA1 | c.1158T>C (p.Gly386=) c.*829T>C (n.*829T>C) c.1221T>C (p.Gly407=) c.1251T>C (p.Gly417=) n.932T>C c.*469T>C (n.*469T>C) c.*592T>C (n.*592T>C) c.1137T>C (p.Gly379=) c.294T>C (p.Gly98=) n.576T>C c.1044T>C (p.Gly348=) c.1272T>C (p.Gly424=) c.1179T>C (p.Gly393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359617T>G | CA515486479 | PDHA1 | c.1158T>G (p.Gly386=) c.*829T>G (n.*829T>G) c.1221T>G (p.Gly407=) c.1251T>G (p.Gly417=) n.932T>G c.*469T>G (n.*469T>G) c.*592T>G (n.*592T>G) c.1137T>G (p.Gly379=) c.294T>G (p.Gly98=) n.576T>G c.1044T>G (p.Gly348=) c.1272T>G (p.Gly424=) c.1179T>G (p.Gly393=) | |
X | g.19359617T= | CA2418225609 | PDHA1 | c.1158T= (p.Gly386=) c.*829T= (n.*829T=) c.1221T= (p.Gly407=) c.1251T= (p.Gly417=) n.932T= c.*469T= (n.*469T=) c.*592T= (n.*592T=) c.1137T= (p.Gly379=) c.294T= (p.Gly98=) n.576T= c.1044T= (p.Gly348=) c.1272T= (p.Gly424=) c.1179T= (p.Gly393=) | |
X | g.19359618G>A | CA412397143 | PDHA1 | c.1159G>A (p.Ala387Thr) c.*830G>A (n.*830G>A) c.1222G>A (p.Ala408Thr) c.1252G>A (p.Ala418Thr) n.933G>A c.*470G>A (n.*470G>A) c.*593G>A (n.*593G>A) c.1138G>A (p.Ala380Thr) c.295G>A (p.Ala99Thr) n.577G>A c.1045G>A (p.Ala349Thr) c.1273G>A (p.Ala425Thr) c.1180G>A (p.Ala394Thr) | |
X | g.19359618G>C | CA412397146 | PDHA1 | c.1159G>C (p.Ala387Pro) c.*830G>C (n.*830G>C) c.1222G>C (p.Ala408Pro) c.1252G>C (p.Ala418Pro) n.933G>C c.*470G>C (n.*470G>C) c.*593G>C (n.*593G>C) c.1138G>C (p.Ala380Pro) c.295G>C (p.Ala99Pro) n.577G>C c.1045G>C (p.Ala349Pro) c.1273G>C (p.Ala425Pro) c.1180G>C (p.Ala394Pro) | |
X | g.19359618G>T | CA412397149 | PDHA1 | c.1159G>T (p.Ala387Ser) c.*830G>T (n.*830G>T) c.1222G>T (p.Ala408Ser) c.1252G>T (p.Ala418Ser) n.933G>T c.*470G>T (n.*470G>T) c.*593G>T (n.*593G>T) c.1138G>T (p.Ala380Ser) c.295G>T (p.Ala99Ser) n.577G>T c.1045G>T (p.Ala349Ser) c.1273G>T (p.Ala425Ser) c.1180G>T (p.Ala394Ser) | |
X | g.19359619C>A | CA412397157 | PDHA1 | c.1160C>A (p.Ala387Asp) c.*831C>A (n.*831C>A) c.1223C>A (p.Ala408Asp) c.1253C>A (p.Ala418Asp) n.934C>A c.*471C>A (n.*471C>A) c.*594C>A (n.*594C>A) c.1139C>A (p.Ala380Asp) c.296C>A (p.Ala99Asp) n.578C>A c.1046C>A (p.Ala349Asp) c.1274C>A (p.Ala425Asp) c.1181C>A (p.Ala394Asp) | |
X | g.19359619C= | CA2418225610 | PDHA1 | c.1160C= (p.Ala387=) c.*831C= (n.*831C=) c.1223C= (p.Ala408=) c.1253C= (p.Ala418=) n.934C= c.*471C= (n.*471C=) c.*594C= (n.*594C=) c.1139C= (p.Ala380=) c.296C= (p.Ala99=) n.578C= c.1046C= (p.Ala349=) c.1274C= (p.Ala425=) c.1181C= (p.Ala394=) | |
X | g.19359619C>G | CA412397161 | PDHA1 | c.1160C>G (p.Ala387Gly) c.*831C>G (n.*831C>G) c.1223C>G (p.Ala408Gly) c.1253C>G (p.Ala418Gly) n.934C>G c.*471C>G (n.*471C>G) c.*594C>G (n.*594C>G) c.1139C>G (p.Ala380Gly) c.296C>G (p.Ala99Gly) n.578C>G c.1046C>G (p.Ala349Gly) c.1274C>G (p.Ala425Gly) c.1181C>G (p.Ala394Gly) | |
X | g.19359619C>T | CA412397163 | PDHA1 | c.1160C>T (p.Ala387Val) c.*831C>T (n.*831C>T) c.1223C>T (p.Ala408Val) c.1253C>T (p.Ala418Val) n.934C>T c.*471C>T (n.*471C>T) c.*594C>T (n.*594C>T) c.1139C>T (p.Ala380Val) c.296C>T (p.Ala99Val) n.578C>T c.1046C>T (p.Ala349Val) c.1274C>T (p.Ala425Val) c.1181C>T (p.Ala394Val) | gnomAD v4 |
X | g.19359619_19359622dup | CA2695231676 | PDHA1 | c.1160_1163dup (p.Trp390SerfsTer6) c.*831_*834dup (n.*831_*834dup) c.1223_1226dup (p.Trp411SerfsTer6) c.1253_1256dup (p.Trp421SerfsTer6) n.934_937dup c.*471_*474dup (n.*471_*474dup) c.*594_*597dup (n.*594_*597dup) c.1139_1142dup (p.Trp383SerfsTer6) c.296_299dup (p.Trp102SerfsTer6) n.578_581dup c.1046_1049dup (p.Trp352SerfsTer6) c.1274_1277dup (p.Trp428SerfsTer6) c.1181_1184dup (p.Trp397SerfsTer6) | |
X | g.19359620C>A | CA515486481 | PDHA1 | c.1161C>A (p.Ala387=) c.*832C>A (n.*832C>A) c.1224C>A (p.Ala408=) c.1254C>A (p.Ala418=) n.935C>A c.*472C>A (n.*472C>A) c.*595C>A (n.*595C>A) c.1140C>A (p.Ala380=) c.297C>A (p.Ala99=) n.579C>A c.1047C>A (p.Ala349=) c.1275C>A (p.Ala425=) c.1182C>A (p.Ala394=) | |
X | g.19359620C>G | CA515486482 | PDHA1 | c.1161C>G (p.Ala387=) c.*832C>G (n.*832C>G) c.1224C>G (p.Ala408=) c.1254C>G (p.Ala418=) n.935C>G c.*472C>G (n.*472C>G) c.*595C>G (n.*595C>G) c.1140C>G (p.Ala380=) c.297C>G (p.Ala99=) n.579C>G c.1047C>G (p.Ala349=) c.1275C>G (p.Ala425=) c.1182C>G (p.Ala394=) | |
X | g.19359620C>T | CA515486480 | PDHA1 | c.1161C>T (p.Ala387=) c.*832C>T (n.*832C>T) c.1224C>T (p.Ala408=) c.1254C>T (p.Ala418=) n.935C>T c.*472C>T (n.*472C>T) c.*595C>T (n.*595C>T) c.1140C>T (p.Ala380=) c.297C>T (p.Ala99=) n.579C>T c.1047C>T (p.Ala349=) c.1275C>T (p.Ala425=) c.1182C>T (p.Ala394=) | |
X | g.19359622_19359625dup | CA121215 | PDHA1 | c.1163_1166dup (p.Trp390SerfsTer6) c.*834_*837dup (n.*834_*837dup) c.1226_1229dup (p.Trp411SerfsTer6) c.1256_1259dup (p.Trp421SerfsTer6) n.937_940dup c.*474_*477dup (n.*474_*477dup) c.*597_*600dup (n.*597_*600dup) c.1142_1145dup (p.Trp383SerfsTer6) c.299_302dup (p.Trp102SerfsTer6) n.581_584dup c.1049_1052dup (p.Trp352SerfsTer6) c.1277_1280dup (p.Trp428SerfsTer6) c.1184_1187dup (p.Trp397SerfsTer6) | ClinVar dbSNP |
X | g.19359621A>C | CA412397173 | PDHA1 | c.1162A>C (p.Asn388His) c.*833A>C (n.*833A>C) c.1225A>C (p.Asn409His) c.1255A>C (p.Asn419His) n.936A>C c.*473A>C (n.*473A>C) c.*596A>C (n.*596A>C) c.1141A>C (p.Asn381His) c.298A>C (p.Asn100His) n.580A>C c.1048A>C (p.Asn350His) c.1276A>C (p.Asn426His) c.1183A>C (p.Asn395His) | |
X | g.19359621A>G | CA412397175 | PDHA1 | c.1162A>G (p.Asn388Asp) c.*833A>G (n.*833A>G) c.1225A>G (p.Asn409Asp) c.1255A>G (p.Asn419Asp) n.936A>G c.*473A>G (n.*473A>G) c.*596A>G (n.*596A>G) c.1141A>G (p.Asn381Asp) c.298A>G (p.Asn100Asp) n.580A>G c.1048A>G (p.Asn350Asp) c.1276A>G (p.Asn426Asp) c.1183A>G (p.Asn395Asp) | |
X | g.19359621A>T | CA412397179 | PDHA1 | c.1162A>T (p.Asn388Tyr) c.*833A>T (n.*833A>T) c.1225A>T (p.Asn409Tyr) c.1255A>T (p.Asn419Tyr) n.936A>T c.*473A>T (n.*473A>T) c.*596A>T (n.*596A>T) c.1141A>T (p.Asn381Tyr) c.298A>T (p.Asn100Tyr) n.580A>T c.1048A>T (p.Asn350Tyr) c.1276A>T (p.Asn426Tyr) c.1183A>T (p.Asn395Tyr) | |
X | g.19359622A= | CA2418225611 | PDHA1 | c.1163A= (p.Asn388=) c.*834A= (n.*834A=) c.1226A= (p.Asn409=) c.1256A= (p.Asn419=) n.937A= c.*474A= (n.*474A=) c.*597A= (n.*597A=) c.1142A= (p.Asn381=) c.299A= (p.Asn100=) n.581A= c.1049A= (p.Asn350=) c.1277A= (p.Asn426=) c.1184A= (p.Asn395=) | |
X | g.19359622A>C | CA412397186 | PDHA1 | c.1163A>C (p.Asn388Thr) c.*834A>C (n.*834A>C) c.1226A>C (p.Asn409Thr) c.1256A>C (p.Asn419Thr) n.937A>C c.*474A>C (n.*474A>C) c.*597A>C (n.*597A>C) c.1142A>C (p.Asn381Thr) c.299A>C (p.Asn100Thr) n.581A>C c.1049A>C (p.Asn350Thr) c.1277A>C (p.Asn426Thr) c.1184A>C (p.Asn395Thr) | |
X | g.19359622A>G | CA412397183 | PDHA1 | c.1163A>G (p.Asn388Ser) c.*834A>G (n.*834A>G) c.1226A>G (p.Asn409Ser) c.1256A>G (p.Asn419Ser) n.937A>G c.*474A>G (n.*474A>G) c.*597A>G (n.*597A>G) c.1142A>G (p.Asn381Ser) c.299A>G (p.Asn100Ser) n.581A>G c.1049A>G (p.Asn350Ser) c.1277A>G (p.Asn426Ser) c.1184A>G (p.Asn395Ser) | ClinVar dbSNP gnomAD v4 |
X | g.19359622A>T | CA412397189 | PDHA1 | c.1163A>T (p.Asn388Ile) c.*834A>T (n.*834A>T) c.1226A>T (p.Asn409Ile) c.1256A>T (p.Asn419Ile) n.937A>T c.*474A>T (n.*474A>T) c.*597A>T (n.*597A>T) c.1142A>T (p.Asn381Ile) c.299A>T (p.Asn100Ile) n.581A>T c.1049A>T (p.Asn350Ile) c.1277A>T (p.Asn426Ile) c.1184A>T (p.Asn395Ile) | |
X | g.19359623_19359625dup | CA2825002903 | PDHA1 | c.1164_1166dup (p.Asn388_Gln389insHis) c.*835_*837dup (n.*835_*837dup) c.1227_1229dup (p.Asn409_Gln410insHis) c.1257_1259dup (p.Asn419_Gln420insHis) n.938_940dup c.*475_*477dup (n.*475_*477dup) c.*598_*600dup (n.*598_*600dup) c.1143_1145dup (p.Asn381_Gln382insHis) c.300_302dup (p.Asn100_Gln101insHis) n.582_584dup c.1050_1052dup (p.Asn350_Gln351insHis) c.1278_1280dup (p.Asn426_Gln427insHis) c.1185_1187dup (p.Asn395_Gln396insHis) | ClinVar |
X | g.19359626_19359633del | CA2695231677 | PDHA1 | c.1167_1174del (p.Trp390ValfsTer2) c.*838_*845del (n.*838_*845del) c.1230_1237del (p.Trp411ValfsTer2) c.1260_1267del (p.Trp421ValfsTer2) n.941_948del c.*478_*485del (n.*478_*485del) c.*601_*608del (n.*601_*608del) c.1146_1153del (p.Trp383ValfsTer2) c.303_310del (p.Trp102ValfsTer2) n.585_592del c.1053_1060del (p.Trp352ValfsTer2) c.1281_1288del (p.Trp428ValfsTer2) c.1188_1195del (p.Trp397ValfsTer2) | |
X | g.19359623T>A | CA412397193 | PDHA1 | c.1164T>A (p.Asn388Lys) c.*835T>A (n.*835T>A) c.1227T>A (p.Asn409Lys) c.1257T>A (p.Asn419Lys) n.938T>A c.*475T>A (n.*475T>A) c.*598T>A (n.*598T>A) c.1143T>A (p.Asn381Lys) c.300T>A (p.Asn100Lys) n.582T>A c.1050T>A (p.Asn350Lys) c.1278T>A (p.Asn426Lys) c.1185T>A (p.Asn395Lys) | |
X | g.19359623T>C | CA515486483 | PDHA1 | c.1164T>C (p.Asn388=) c.*835T>C (n.*835T>C) c.1227T>C (p.Asn409=) c.1257T>C (p.Asn419=) n.938T>C c.*475T>C (n.*475T>C) c.*598T>C (n.*598T>C) c.1143T>C (p.Asn381=) c.300T>C (p.Asn100=) n.582T>C c.1050T>C (p.Asn350=) c.1278T>C (p.Asn426=) c.1185T>C (p.Asn395=) | |
X | g.19359623T>G | CA412397194 | PDHA1 | c.1164T>G (p.Asn388Lys) c.*835T>G (n.*835T>G) c.1227T>G (p.Asn409Lys) c.1257T>G (p.Asn419Lys) n.938T>G c.*475T>G (n.*475T>G) c.*598T>G (n.*598T>G) c.1143T>G (p.Asn381Lys) c.300T>G (p.Asn100Lys) n.582T>G c.1050T>G (p.Asn350Lys) c.1278T>G (p.Asn426Lys) c.1185T>G (p.Asn395Lys) | ClinVar |
X | g.19359624C>A | CA412397195 | PDHA1 | c.1165C>A (p.Gln389Lys) c.*836C>A (n.*836C>A) c.1228C>A (p.Gln410Lys) c.1258C>A (p.Gln420Lys) n.939C>A c.*476C>A (n.*476C>A) c.*599C>A (n.*599C>A) c.1144C>A (p.Gln382Lys) c.301C>A (p.Gln101Lys) n.583C>A c.1051C>A (p.Gln351Lys) c.1279C>A (p.Gln427Lys) c.1186C>A (p.Gln396Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.19359624C= | CA2418225612 | PDHA1 | c.1165C= (p.Gln389=) c.*836C= (n.*836C=) c.1228C= (p.Gln410=) c.1258C= (p.Gln420=) n.939C= c.*476C= (n.*476C=) c.*599C= (n.*599C=) c.1144C= (p.Gln382=) c.301C= (p.Gln101=) n.583C= c.1051C= (p.Gln351=) c.1279C= (p.Gln427=) c.1186C= (p.Gln396=) | |
X | g.19359624C>G | CA412397198 | PDHA1 | c.1165C>G (p.Gln389Glu) c.*836C>G (n.*836C>G) c.1228C>G (p.Gln410Glu) c.1258C>G (p.Gln420Glu) n.939C>G c.*476C>G (n.*476C>G) c.*599C>G (n.*599C>G) c.1144C>G (p.Gln382Glu) c.301C>G (p.Gln101Glu) n.583C>G c.1051C>G (p.Gln351Glu) c.1279C>G (p.Gln427Glu) c.1186C>G (p.Gln396Glu) | |
X | g.19359624C>T | CA412397200 | PDHA1 | c.1165C>T (p.Gln389Ter) c.*836C>T (n.*836C>T) c.1228C>T (p.Gln410Ter) c.1258C>T (p.Gln420Ter) n.939C>T c.*476C>T (n.*476C>T) c.*599C>T (n.*599C>T) c.1144C>T (p.Gln382Ter) c.301C>T (p.Gln101Ter) n.583C>T c.1051C>T (p.Gln351Ter) c.1279C>T (p.Gln427Ter) c.1186C>T (p.Gln396Ter) | |
X | g.19359624_19359639dup | CA2695231678 | PDHA1 | c.1165_1180dup (p.Lys394ThrfsTer6) c.*836_*851dup (n.*836_*851dup) c.1228_1243dup (p.Lys415ThrfsTer6) c.1258_1273dup (p.Lys425ThrfsTer6) n.939_954dup c.*476_*491dup (n.*476_*491dup) c.*599_*614dup (n.*599_*614dup) c.1144_1159dup (p.Lys387ThrfsTer6) c.301_316dup (p.Lys106ThrfsTer6) n.583_598dup c.1051_1066dup (p.Lys356ThrfsTer6) c.1279_1294dup (p.Lys432ThrfsTer6) c.1186_1201dup (p.Lys401ThrfsTer6) | |
X | g.19359625A>C | CA412397205 | PDHA1 | c.1166A>C (p.Gln389Pro) c.*837A>C (n.*837A>C) c.1229A>C (p.Gln410Pro) c.1259A>C (p.Gln420Pro) n.940A>C c.*477A>C (n.*477A>C) c.*600A>C (n.*600A>C) c.1145A>C (p.Gln382Pro) c.302A>C (p.Gln101Pro) n.584A>C c.1052A>C (p.Gln351Pro) c.1280A>C (p.Gln427Pro) c.1187A>C (p.Gln396Pro) | |
X | g.19359625A>G | CA412397209 | PDHA1 | c.1166A>G (p.Gln389Arg) c.*837A>G (n.*837A>G) c.1229A>G (p.Gln410Arg) c.1259A>G (p.Gln420Arg) n.940A>G c.*477A>G (n.*477A>G) c.*600A>G (n.*600A>G) c.1145A>G (p.Gln382Arg) c.302A>G (p.Gln101Arg) n.584A>G c.1052A>G (p.Gln351Arg) c.1280A>G (p.Gln427Arg) c.1187A>G (p.Gln396Arg) | |
X | g.19359625A>T | CA412397212 | PDHA1 | c.1166A>T (p.Gln389Leu) c.*837A>T (n.*837A>T) c.1229A>T (p.Gln410Leu) c.1259A>T (p.Gln420Leu) n.940A>T c.*477A>T (n.*477A>T) c.*600A>T (n.*600A>T) c.1145A>T (p.Gln382Leu) c.302A>T (p.Gln101Leu) n.584A>T c.1052A>T (p.Gln351Leu) c.1280A>T (p.Gln427Leu) c.1187A>T (p.Gln396Leu) | |
X | g.19359626G>A | CA515486484 | PDHA1 | c.1167G>A (p.Gln389=) c.*838G>A (n.*838G>A) c.1230G>A (p.Gln410=) c.1260G>A (p.Gln420=) n.941G>A c.*478G>A (n.*478G>A) c.*601G>A (n.*601G>A) c.1146G>A (p.Gln382=) c.303G>A (p.Gln101=) n.585G>A c.1053G>A (p.Gln351=) c.1281G>A (p.Gln427=) c.1188G>A (p.Gln396=) | ClinVar dbSNP gnomAD v4 |
X | g.19359626G>C | CA10363219 | PDHA1 | c.1167G>C (p.Gln389His) c.*838G>C (n.*838G>C) c.1230G>C (p.Gln410His) c.1260G>C (p.Gln420His) n.941G>C c.*478G>C (n.*478G>C) c.*601G>C (n.*601G>C) c.1146G>C (p.Gln382His) c.303G>C (p.Gln101His) n.585G>C c.1053G>C (p.Gln351His) c.1281G>C (p.Gln427His) c.1188G>C (p.Gln396His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359626G= | CA2418225613 | PDHA1 | c.1167G= (p.Gln389=) c.*838G= (n.*838G=) c.1230G= (p.Gln410=) c.1260G= (p.Gln420=) n.941G= c.*478G= (n.*478G=) c.*601G= (n.*601G=) c.1146G= (p.Gln382=) c.303G= (p.Gln101=) n.585G= c.1053G= (p.Gln351=) c.1281G= (p.Gln427=) c.1188G= (p.Gln396=) | |
X | g.19359626G>T | CA412397225 | PDHA1 | c.1167G>T (p.Gln389His) c.*838G>T (n.*838G>T) c.1230G>T (p.Gln410His) c.1260G>T (p.Gln420His) n.941G>T c.*478G>T (n.*478G>T) c.*601G>T (n.*601G>T) c.1146G>T (p.Gln382His) c.303G>T (p.Gln101His) n.585G>T c.1053G>T (p.Gln351His) c.1281G>T (p.Gln427His) c.1188G>T (p.Gln396His) |