ClinVar Miner

List of variants reported for Pyruvate dehydrogenase E1-alpha deficiency by PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 331
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402 0.00001
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly) rs2063233462 0.00001
NM_000284.3(PDHA1):c.900_932dup
NM_000284.3:c.562_858dup
NM_000284.3:c.899_918del
NM_000284.3:c.966_1011dup
NM_000284.4(PDHA1):c.1006_1008dup (p.Lys336_Glu337insLys)
NM_000284.4(PDHA1):c.1008+1_1008+27del rs863224155
NM_000284.4(PDHA1):c.1011_1031dup (p.Lys344_Glu345insIleAspValGluValArgLys)
NM_000284.4(PDHA1):c.1011_1040dup (p.Glu347_Asp348insIleAspValGluValArgLysGluIleGlu)
NM_000284.4(PDHA1):c.1014_1032dup (p.Glu345Ter)
NM_000284.4(PDHA1):c.1022_1034del (p.Glu341fs)
NM_000284.4(PDHA1):c.1026_1051dup (p.Gln351fs)
NM_000284.4(PDHA1):c.1026_1130dup (p.Arg378_Gly379insLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
NM_000284.4(PDHA1):c.1033_1078dup (p.Pro360delinsArgAspTer)
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1040_1046dup (p.Ala350fs)
NM_000284.4(PDHA1):c.1040_1063dup (p.Thr354_Ala355insGluAspAlaAlaGlnPheAlaThr)
NM_000284.4(PDHA1):c.1042_1045dup (p.Ala349fs)
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1046_1047insCAAT (p.Ala350fs)
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1051C>T (p.Gln351Ter)
NM_000284.4(PDHA1):c.1052A>C (p.Gln351Pro)
NM_000284.4(PDHA1):c.1054_1057del (p.Phe352fs)
NM_000284.4(PDHA1):c.1057G>A (p.Ala353Thr)
NM_000284.4(PDHA1):c.1057G>C (p.Ala353Pro)
NM_000284.4(PDHA1):c.1062_1124dup (p.Pro374_Phe375insLeuAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)
NM_000284.4(PDHA1):c.1063_1068del (p.Ala355_Asp356del)
NM_000284.4(PDHA1):c.1064_1065insTAAG (p.Asp356fs)
NM_000284.4(PDHA1):c.1065del (p.Asp356fs)
NM_000284.4(PDHA1):c.1066_1090dup (p.Leu364delinsArgSerTer)
NM_000284.4(PDHA1):c.1069_1114dup (p.Asp372delinsAlaTer)
NM_000284.4(PDHA1):c.1071_1088dup (p.Glu362_Glu363insAspGluProProLeuGlu)
NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys) rs2147189180
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1073_1094del (p.Glu358fs)
NM_000284.4(PDHA1):c.1081_1125dup (p.Phe375_Glu376insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPhe)
NM_000284.4(PDHA1):c.1083_1102dup (p.Ile368fs)
NM_000284.4(PDHA1):c.1083_1124del (p.Leu361_Pro374del)
NM_000284.4(PDHA1):c.1083_1124dup (p.Pro374_Phe375insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)
NM_000284.4(PDHA1):c.1085_1093dup (p.Leu364_Gly365insGluGluLeu)
NM_000284.4(PDHA1):c.1087_1119dup (p.Pro373_Pro374insGluLeuGlyTyrHisIleTyrSerSerAspPro)
NM_000284.4(PDHA1):c.1090_1155dup (p.Lys385_Phe386insLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLys)
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg) rs2518507804
NM_000284.4(PDHA1):c.1093_1112dup (p.Ser371fs)
NM_000284.4(PDHA1):c.1095_1118dup (p.Pro373_Pro374insTyrHisIleTyrSerSerAspPro)
NM_000284.4(PDHA1):c.1100A>G (p.His367Arg)
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu) rs1131691584
NM_000284.4(PDHA1):c.1101_1154dup (p.Ile384_Lys385insAsnIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIle)
NM_000284.4(PDHA1):c.1103_1116dup (p.Pro373fs)
NM_000284.4(PDHA1):c.1105T>C (p.Tyr369His)
NM_000284.4(PDHA1):c.1106_1108del (p.Tyr369del)
NM_000284.4(PDHA1):c.1116_1154dup (p.Ile384_Lys385insAsnProProPheGluValArgGlyAlaAsnGlnTrpIle)
NM_000284.4(PDHA1):c.1119_1123del (p.Pro373_Pro374insTer)
NM_000284.4(PDHA1):c.1121_1144dup (p.Asn381_Gln382insProPheGluValArgGlyAlaAsn)
NM_000284.4(PDHA1):c.1121_1159dup (p.Phe386_Lys387insThrPheGluValArgGlyAlaAsnGlnTrpIleLysPhe)
NM_000284.4(PDHA1):c.1124_1125dup (p.Glu376fs)
NM_000284.4(PDHA1):c.1124_1132del (p.Phe375_Arg378delinsCys)
NM_000284.4(PDHA1):c.1125del (p.Phe375fs)
NM_000284.4(PDHA1):c.1126_1131dup (p.Val377_Arg378insGluVal)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1133G>T (p.Arg378Leu) rs137853250
NM_000284.4(PDHA1):c.1134_1159dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1137_1159dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1138_1157dup (p.Phe386fs)
NM_000284.4(PDHA1):c.1139_1142dup (p.Trp383fs)
NM_000284.4(PDHA1):c.1140_1150dup (p.Ile384fs)
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1142_1164del (p.Asn381fs)
NM_000284.4(PDHA1):c.1143_1154del (p.Asn381_Ile384del)
NM_000284.4(PDHA1):c.1144C>T (p.Gln382Ter)
NM_000284.4(PDHA1):c.1144_1147dup (p.Trp383fs)
NM_000284.4(PDHA1):c.1144_1159dup (p.Lys387delinsThrValAspGlnValTer)
NM_000284.4(PDHA1):c.1147T>C (p.Trp383Arg)
NM_000284.4(PDHA1):c.1147_1158dup (p.Phe386_Lys387insTrpIleLysPhe)
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter) rs2518508012
NM_000284.4(PDHA1):c.1153_1155dup (p.Lys385_Phe386insLys)
NM_000284.4(PDHA1):c.1157_1158dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1157_1162del (p.Phe386_Lys387del)
NM_000284.4(PDHA1):c.1157_1162dup (p.Lys387_Ser388insPheLys)
NM_000284.4(PDHA1):c.1158dup (p.Lys387Ter)
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.1162T>C (p.Ser388Pro)
NM_000284.4(PDHA1):c.1163C>A (p.Ser388Ter)
NM_000284.4(PDHA1):c.1163_1164del (p.Ser388fs)
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.122_124del (p.Cys41_Asp42delinsTyr)
NM_000284.4(PDHA1):c.12_13insACTT (p.Leu5fs)
NM_000284.4(PDHA1):c.131A>G (p.His44Arg)
NM_000284.4(PDHA1):c.148C>T (p.Pro50Ser)
NM_000284.4(PDHA1):c.149C>G (p.Pro50Arg)
NM_000284.4(PDHA1):c.193_195delinsCAA (p.Tyr65Gln)
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser) rs2519339682
NM_000284.4(PDHA1):c.212T>C (p.Val71Ala)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.224A>C (p.Glu75Ala)
NM_000284.4(PDHA1):c.224A>G (p.Glu75Gly)
NM_000284.4(PDHA1):c.224A>T (p.Glu75Val)
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) rs1569190079
NM_000284.4(PDHA1):c.249dup (p.Gln84fs)
NM_000284.4(PDHA1):c.261T>G (p.Ile87Met)
NM_000284.4(PDHA1):c.262C>A (p.Arg88Ser)
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys) rs2519339796
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.269T>C (p.Phe90Ser)
NM_000284.4(PDHA1):c.272G>C (p.Cys91Ser)
NM_000284.4(PDHA1):c.291+5G>A
NM_000284.4(PDHA1):c.291G>A (p.Gln97=)
NM_000284.4(PDHA1):c.292-2A>G
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.301T>C (p.Cys101Arg)
NM_000284.4(PDHA1):c.302G>T (p.Cys101Phe)
NM_000284.4(PDHA1):c.328delinsAGA (p.Pro110fs)
NM_000284.4(PDHA1):c.329C>A (p.Pro110His)
NM_000284.4(PDHA1):c.332C>T (p.Thr111Ile)
NM_000284.4(PDHA1):c.335A>G (p.Asp112Gly)
NM_000284.4(PDHA1):c.337C>G (p.His113Asp)
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.363C>A (p.His121Gln)
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.364G>C (p.Gly122Arg)
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp) rs2519341308
NM_000284.4(PDHA1):c.394C>T (p.Arg132Ter)
NM_000284.4(PDHA1):c.407C>T (p.Ala136Val)
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.409G>C (p.Glu137Gln)
NM_000284.4(PDHA1):c.410A>G (p.Glu137Gly)
NM_000284.4(PDHA1):c.412C>T (p.Leu138Phe)
NM_000284.4(PDHA1):c.416C>G (p.Thr139Arg)
NM_000284.4(PDHA1):c.419-17_419-14del
NM_000284.4(PDHA1):c.419-2A>G
NM_000284.4(PDHA1):c.421C>G (p.Arg141Gly)
NM_000284.4(PDHA1):c.421C>T (p.Arg141Ter)
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.422G>T (p.Arg141Leu)
NM_000284.4(PDHA1):c.426AGG[1] (p.Gly144del)
NM_000284.4(PDHA1):c.430G>A (p.Gly144Ser)
NM_000284.4(PDHA1):c.430G>C (p.Gly144Arg)
NM_000284.4(PDHA1):c.431G>A (p.Gly144Asp)
NM_000284.4(PDHA1):c.433_435del (p.Cys145del)
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.442G>A (p.Gly148Arg)
NM_000284.4(PDHA1):c.449G>A (p.Gly150Glu)
NM_000284.4(PDHA1):c.451G>A (p.Gly151Arg) rs863224151
NM_000284.4(PDHA1):c.454T>A (p.Ser152Thr)
NM_000284.4(PDHA1):c.454T>C (p.Ser152Pro)
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.457A>G (p.Met153Val)
NM_000284.4(PDHA1):c.464T>C (p.Met155Thr)
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile) rs2518497064
NM_000284.4(PDHA1):c.478_479inv (p.Phe160Asn)
NM_000284.4(PDHA1):c.479_481del (p.Phe160del)
NM_000284.4(PDHA1):c.481_483del (p.Tyr161del)
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.484G>A (p.Gly162Arg)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.495C>T (p.Gly165=)
NM_000284.4(PDHA1):c.498C>T (p.Ile166=) rs2147178249
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) rs2063174067
NM_000284.4(PDHA1):c.499G>T (p.Val167Leu)
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.511-30G>A
NM_000284.4(PDHA1):c.511-414_899+584del
NM_000284.4(PDHA1):c.511G>A (p.Val171Met) rs1602226867
NM_000284.4(PDHA1):c.511G>C (p.Val171Leu)
NM_000284.4(PDHA1):c.513_759+2del
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu) rs2518498625
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.523G>C (p.Ala175Pro)
NM_000284.4(PDHA1):c.530T>C (p.Ile177Thr)
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.542G>A (p.Cys181Tyr)
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys) rs2147179754
NM_000284.4(PDHA1):c.555A>G (p.Gly185=)
NM_000284.4(PDHA1):c.562G>A (p.Glu188Lys)
NM_000284.4(PDHA1):c.584G>C (p.Gly195Ala)
NM_000284.4(PDHA1):c.586G>A (p.Asp196Asn)
NM_000284.4(PDHA1):c.592G>A (p.Ala198Thr)
NM_000284.4(PDHA1):c.593C>T (p.Ala198Val)
NM_000284.4(PDHA1):c.595G>A (p.Ala199Thr)
NM_000284.4(PDHA1):c.599A>C (p.Asn200Thr)
NM_000284.4(PDHA1):c.604-10C>G
NM_000284.4(PDHA1):c.606_609del (p.Gln203fs)
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu) rs2518499632
NM_000284.4(PDHA1):c.615C>A (p.Phe205Leu)
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys) rs1555934336
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln) rs1555934336
NM_000284.4(PDHA1):c.616G>T (p.Glu206Ter)
NM_000284.4(PDHA1):c.619G>C (p.Ala207Pro)
NM_000284.4(PDHA1):c.626A>G (p.Asn209Ser)
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.629T>C (p.Met210Thr)
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly) rs886042089
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.643A>C (p.Lys215Gln)
NM_000284.4(PDHA1):c.647T>C (p.Leu216Ser)
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.649C>A (p.Pro217Thr)
NM_000284.4(PDHA1):c.649C>G (p.Pro217Ala)
NM_000284.4(PDHA1):c.650C>G (p.Pro217Arg)
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu) rs1131691792
NM_000284.4(PDHA1):c.666_667del (p.Cys222_Glu223delinsTer)
NM_000284.4(PDHA1):c.677G>A (p.Arg226His)
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.680A>G (p.Tyr227Cys)
NM_000284.4(PDHA1):c.687G>A (p.Met229Ile)
NM_000284.4(PDHA1):c.688G>A (p.Gly230Arg)
NM_000284.4(PDHA1):c.691A>G (p.Thr231Ala)
NM_000284.4(PDHA1):c.692C>A (p.Thr231Lys)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.703A>G (p.Arg235Gly)
NM_000284.4(PDHA1):c.703_706del (p.Ala236fs)
NM_000284.4(PDHA1):c.705_706del (p.Arg235fs)
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter) rs2063189611
NM_000284.4(PDHA1):c.724TAC[1] (p.Tyr243del)
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.728A>C (p.Tyr243Ser)
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
NM_000284.4(PDHA1):c.729C>A (p.Tyr243Ter)
NM_000284.4(PDHA1):c.730_731del (p.Lys244fs)
NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.757A>G (p.Arg253Gly)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.760-2A>G
NM_000284.4(PDHA1):c.762_831+2del
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.778C>G (p.Leu260Val)
NM_000284.4(PDHA1):c.784G>C (p.Val262Leu)
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe) rs202166915
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter) rs137853259
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln) rs2063192428
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) rs2063192867
NM_000284.4(PDHA1):c.831+1G>A
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.832G>C (p.Gly278Arg)
NM_000284.4(PDHA1):c.833G>A (p.Gly278Glu)
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.844A>G (p.Met282Val)
NM_000284.4(PDHA1):c.845T>G (p.Met282Arg)
NM_000284.4(PDHA1):c.845_846insTCT (p.Met282delinsIleLeu)
NM_000284.4(PDHA1):c.847G>A (p.Glu283Lys)
NM_000284.4(PDHA1):c.853C>T (p.Gln285Ter)
NM_000284.4(PDHA1):c.853_865dup (p.Tyr289fs)
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.862C>A (p.Arg288Ser)
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.863G>T (p.Arg288Leu)
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.869A>C (p.His290Pro)
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg) rs2147184517
NM_000284.4(PDHA1):c.875A>T (p.His292Leu)
NM_000284.4(PDHA1):c.883A>G (p.Ser295Gly)
NM_000284.4(PDHA1):c.886G>A (p.Asp296Asn)
NM_000284.4(PDHA1):c.888C>G (p.Asp296Glu)
NM_000284.4(PDHA1):c.890dup (p.Gly298fs)
NM_000284.4(PDHA1):c.892G>A (p.Gly298Arg)
NM_000284.4(PDHA1):c.893G>A (p.Gly298Glu)
NM_000284.4(PDHA1):c.894_899+1dup
NM_000284.4(PDHA1):c.899+1G>C
NM_000284.4(PDHA1):c.899+3_988del
NM_000284.4(PDHA1):c.900-12_920dup
NM_000284.4(PDHA1):c.900-15_906dup
NM_000284.4(PDHA1):c.900-1G>A
NM_000284.4(PDHA1):c.900-1_903dup
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.900-3_922dup
NM_000284.4(PDHA1):c.900-41_900-23del
NM_000284.4(PDHA1):c.900-6_958dup
NM_000284.4(PDHA1):c.900_903dup (p.Arg302fs)
NM_000284.4(PDHA1):c.901_1004dup (p.Leu335_Lys336insThrValHisGluLysLysPheArgLysTer)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.905G>T (p.Arg302Leu)
NM_000284.4(PDHA1):c.905_927inv (p.Arg302_Glu309delinsLeuProGluPheLeuLeuValTyr)
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter) rs863224146
NM_000284.4(PDHA1):c.913_929dup (p.Arg311fs)
NM_000284.4(PDHA1):c.914_915insGATAGTTACCGTACACGAGAA (p.Glu305_Glu306insIleValThrValHisGluLys)
NM_000284.4(PDHA1):c.917_924dup (p.Glu309fs)
NM_000284.4(PDHA1):c.924G>T (p.Gln308His)
NM_000284.4(PDHA1):c.924_930del (p.Ser312fs)
NM_000284.4(PDHA1):c.927dup (p.Val310fs)
NM_000284.4(PDHA1):c.929_932del (p.Val310fs) rs1555935216
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.931A>G (p.Arg311Gly)
NM_000284.4(PDHA1):c.932_935del (p.Arg311fs)
NM_000284.4(PDHA1):c.933_989dup (p.Ser331_Val332insLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSer)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.937_942dup (p.Ser314_Asp315insLysSer)
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.939_950del (p.Lys313_Ile317delinsAsn)
NM_000284.4(PDHA1):c.940A>T (p.Ser314Cys)
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.947C>T (p.Pro316Leu)
NM_000284.4(PDHA1):c.947dup (p.Ile317fs)
NM_000284.4(PDHA1):c.948_963dup (p.Asp322fs)
NM_000284.4(PDHA1):c.949_950del (p.Ile317fs)
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000284.4(PDHA1):c.950_962dup (p.Lys321fs)
NM_000284.4(PDHA1):c.957_959dup (p.Leu320_Lys321insLeu)
NM_000284.4(PDHA1):c.960_1008+5dup
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.966_969del (p.Asp322fs)
NM_000284.4(PDHA1):c.968_976del (p.Arg323_Val325del)
NM_000284.4(PDHA1):c.968_980dup (p.Ser327fs)
NM_000284.4(PDHA1):c.969_1004dup (p.Leu335_Lys336insMetValAsnSerAsnLeuAlaSerValGluGluLeu)
NM_000284.4(PDHA1):c.978_1004dup (p.Leu335_Lys336insSerAsnLeuAlaSerValGluGluLeu)
NM_000284.4(PDHA1):c.982_985dup (p.Leu329fs)
NM_000284.4(PDHA1):c.983_986dup (p.Ala330fs)
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs) rs863224157
NM_000284.4(PDHA1):c.986T>G (p.Leu329Arg)
NM_000284.4(PDHA1):c.986_998dup (p.Glu333fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.