Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19359459_19359504dupCA2693251319PDHA1c.1030-30_1045dup
c.*701-30_*716dup
c.1093-30_1108dup
c.1123-30_1138dup
n.804-30_819dup
c.*341-30_*356dup
c.*464-30_*479dup
c.1009-30_1024dup
c.166-30_181dup
n.448-30_463dup
c.916-30_931dup
c.1144-30_1159dup
c.1051-30_1066dup
 gnomAD v4
Xg.19359467_19359537dupCA913191132PDHA1c.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
Xg.19359474_19359499dupCA2693251336PDHA1c.1030-15_1040dup
c.*701-15_*711dup
c.1093-15_1103dup
c.1123-15_1133dup
n.804-15_814dup
c.*341-15_*351dup
c.*464-15_*474dup
c.1009-15_1019dup
c.166-15_176dup
n.448-15_458dup
c.916-15_926dup
c.1144-15_1154dup
c.1051-15_1061dup
 gnomAD v4
Xg.19359491_19359514delCA2580100433PDHA1c.1032_1055del
c.*703_*726del
c.1095_1118del
c.1125_1148del
n.806_829del
c.*343_*366del
c.*466_*489del
c.1011_1034del
c.168_191del
n.450_473del
c.918_941del
c.1146_1169del
c.1053_1076del
 ClinVar
Xg.19359494_19359514dupCA1139667330PDHA1c.1035_1055dup (p.Lys351_Glu352insAspAspValGluValArgLys)
c.*706_*726dup (n.*706_*726dup)
c.1098_1118dup (p.Lys372_Glu373insAspAspValGluValArgLys)
c.1128_1148dup (p.Lys382_Glu383insAspAspValGluValArgLys)
n.809_829dup
c.*346_*366dup (n.*346_*366dup)
c.*469_*489dup (n.*469_*489dup)
c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
c.171_191dup (p.Lys63_Glu64insAspAspValGluValArgLys)
n.453_473dup
c.921_941dup (p.Lys313_Glu314insAspAspValGluValArgLys)
c.1149_1169dup (p.Lys389_Glu390insAspAspValGluValArgLys)
c.1056_1076dup (p.Lys358_Glu359insAspAspValGluValArgLys)
 ClinVar dbSNP
Xg.19359499T>ACA412396400PDHA1c.1040T>A (p.Val347Glu)
c.*711T>A (n.*711T>A)
c.1103T>A (p.Val368Glu)
c.1133T>A (p.Val378Glu)
n.814T>A
c.*351T>A (n.*351T>A)
c.*474T>A (n.*474T>A)
c.1019T>A (p.Val340Glu)
c.176T>A (p.Val59Glu)
n.458T>A
c.926T>A (p.Val309Glu)
c.1154T>A (p.Val385Glu)
c.1061T>A (p.Val354Glu)
Xg.19359499T>CCA412396398PDHA1c.1040T>C (p.Val347Ala)
c.*711T>C (n.*711T>C)
c.1103T>C (p.Val368Ala)
c.1133T>C (p.Val378Ala)
n.814T>C
c.*351T>C (n.*351T>C)
c.*474T>C (n.*474T>C)
c.1019T>C (p.Val340Ala)
c.176T>C (p.Val59Ala)
n.458T>C
c.926T>C (p.Val309Ala)
c.1154T>C (p.Val385Ala)
c.1061T>C (p.Val354Ala)
Xg.19359499T>GCA412396396PDHA1c.1040T>G (p.Val347Gly)
c.*711T>G (n.*711T>G)
c.1103T>G (p.Val368Gly)
c.1133T>G (p.Val378Gly)
n.814T>G
c.*351T>G (n.*351T>G)
c.*474T>G (n.*474T>G)
c.1019T>G (p.Val340Gly)
c.176T>G (p.Val59Gly)
n.458T>G
c.926T>G (p.Val309Gly)
c.1154T>G (p.Val385Gly)
c.1061T>G (p.Val354Gly)
Xg.19359499_19359507delinsTGGAAGTGACA2418225562PDHA1c.1040_1048delinsTGGAAGTGA (p.Val347=)
c.*711_*719delinsTGGAAGTGA (n.*711_*719delinsTGGAAGTGA)
c.1103_1111delinsTGGAAGTGA (p.Val368=)
c.1133_1141delinsTGGAAGTGA (p.Val378=)
n.814_822delinsTGGAAGTGA
c.*351_*359delinsTGGAAGTGA (n.*351_*359delinsTGGAAGTGA)
c.*474_*482delinsTGGAAGTGA (n.*474_*482delinsTGGAAGTGA)
c.1019_1027delinsTGGAAGTGA (p.Val340=)
c.176_184delinsTGGAAGTGA (p.Val59=)
n.458_466delinsTGGAAGTGA
c.926_934delinsTGGAAGTGA (p.Val309=)
c.1154_1162delinsTGGAAGTGA (p.Val385=)
c.1061_1069delinsTGGAAGTGA (p.Val354=)
Xg.19359500G>ACA515486407PDHA1c.1041G>A (p.Val347=)
c.*712G>A (n.*712G>A)
c.1104G>A (p.Val368=)
c.1134G>A (p.Val378=)
n.815G>A
c.*352G>A (n.*352G>A)
c.*475G>A (n.*475G>A)
c.1020G>A (p.Val340=)
c.177G>A (p.Val59=)
n.459G>A
c.927G>A (p.Val309=)
c.1155G>A (p.Val385=)
c.1062G>A (p.Val354=)
Xg.19359500G>CCA515486408PDHA1c.1041G>C (p.Val347=)
c.*712G>C (n.*712G>C)
c.1104G>C (p.Val368=)
c.1134G>C (p.Val378=)
n.815G>C
c.*352G>C (n.*352G>C)
c.*475G>C (n.*475G>C)
c.1020G>C (p.Val340=)
c.177G>C (p.Val59=)
n.459G>C
c.927G>C (p.Val309=)
c.1155G>C (p.Val385=)
c.1062G>C (p.Val354=)
Xg.19359500G>TCA515486409PDHA1c.1041G>T (p.Val347=)
c.*712G>T (n.*712G>T)
c.1104G>T (p.Val368=)
c.1134G>T (p.Val378=)
n.815G>T
c.*352G>T (n.*352G>T)
c.*475G>T (n.*475G>T)
c.1020G>T (p.Val340=)
c.177G>T (p.Val59=)
n.459G>T
c.927G>T (p.Val309=)
c.1155G>T (p.Val385=)
c.1062G>T (p.Val354=)
 COSMIC COSMIC COSMIC
Xg.19359501dupCA2695231667PDHA1c.1042dup (p.Glu348GlyfsTer7)
c.*713dup (n.*713dup)
c.1105dup (p.Glu369GlyfsTer7)
c.1135dup (p.Glu379GlyfsTer7)
n.816dup
c.*353dup (n.*353dup)
c.*476dup (n.*476dup)
c.1021dup (p.Glu341GlyfsTer7)
c.178dup (p.Glu60GlyfsTer7)
n.460dup
c.928dup (p.Glu310GlyfsTer7)
c.1156dup (p.Glu386GlyfsTer7)
c.1063dup (p.Glu355GlyfsTer7)
Xg.19359505_19359512dupCA2695231666PDHA1c.1046_1053dup (p.Glu352Ter)
c.*717_*724dup (n.*717_*724dup)
c.1109_1116dup (p.Glu373Ter)
c.1139_1146dup (p.Glu383Ter)
n.820_827dup
c.*357_*364dup (n.*357_*364dup)
c.*480_*487dup (n.*480_*487dup)
c.1025_1032dup (p.Glu345Ter)
c.182_189dup (p.Glu64Ter)
n.464_471dup
c.932_939dup (p.Glu314Ter)
c.1160_1167dup (p.Glu390Ter)
c.1067_1074dup (p.Glu359Ter)
Xg.19359505_19359512delCA1139667331PDHA1c.1046_1053del (p.Val349GlyfsTer3)
c.*717_*724del (n.*717_*724del)
c.1109_1116del (p.Val370GlyfsTer3)
c.1139_1146del (p.Val380GlyfsTer3)
n.820_827del
c.*357_*364del (n.*357_*364del)
c.*480_*487del (n.*480_*487del)
c.1025_1032del (p.Val342GlyfsTer3)
c.182_189del (p.Val61GlyfsTer3)
n.464_471del
c.932_939del (p.Val311GlyfsTer3)
c.1160_1167del (p.Val387GlyfsTer3)
c.1067_1074del (p.Val356GlyfsTer3)
 ClinVar dbSNP
Xg.19359501G>ACA10363203PDHA1c.1042G>A (p.Glu348Lys)
c.*713G>A (n.*713G>A)
c.1105G>A (p.Glu369Lys)
c.1135G>A (p.Glu379Lys)
n.816G>A
c.*353G>A (n.*353G>A)
c.*476G>A (n.*476G>A)
c.1021G>A (p.Glu341Lys)
c.178G>A (p.Glu60Lys)
n.460G>A
c.928G>A (p.Glu310Lys)
c.1156G>A (p.Glu386Lys)
c.1063G>A (p.Glu355Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.19359501G>CCA10363202PDHA1c.1042G>C (p.Glu348Gln)
c.*713G>C (n.*713G>C)
c.1105G>C (p.Glu369Gln)
c.1135G>C (p.Glu379Gln)
n.816G>C
c.*353G>C (n.*353G>C)
c.*476G>C (n.*476G>C)
c.1021G>C (p.Glu341Gln)
c.178G>C (p.Glu60Gln)
n.460G>C
c.928G>C (p.Glu310Gln)
c.1156G>C (p.Glu386Gln)
c.1063G>C (p.Glu355Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359501G=CA2418225563PDHA1c.1042G= (p.Glu348=)
c.*713G= (n.*713G=)
c.1105G= (p.Glu369=)
c.1135G= (p.Glu379=)
n.816G=
c.*353G= (n.*353G=)
c.*476G= (n.*476G=)
c.1021G= (p.Glu341=)
c.178G= (p.Glu60=)
n.460G=
c.928G= (p.Glu310=)
c.1156G= (p.Glu386=)
c.1063G= (p.Glu355=)
Xg.19359501G>TCA412396403PDHA1c.1042G>T (p.Glu348Ter)
c.*713G>T (n.*713G>T)
c.1105G>T (p.Glu369Ter)
c.1135G>T (p.Glu379Ter)
n.816G>T
c.*353G>T (n.*353G>T)
c.*476G>T (n.*476G>T)
c.1021G>T (p.Glu341Ter)
c.178G>T (p.Glu60Ter)
n.460G>T
c.928G>T (p.Glu310Ter)
c.1156G>T (p.Glu386Ter)
c.1063G>T (p.Glu355Ter)
Xg.19359502A>CCA412396407PDHA1c.1043A>C (p.Glu348Ala)
c.*714A>C (n.*714A>C)
c.1106A>C (p.Glu369Ala)
c.1136A>C (p.Glu379Ala)
n.817A>C
c.*354A>C (n.*354A>C)
c.*477A>C (n.*477A>C)
c.1022A>C (p.Glu341Ala)
c.179A>C (p.Glu60Ala)
n.461A>C
c.929A>C (p.Glu310Ala)
c.1157A>C (p.Glu386Ala)
c.1064A>C (p.Glu355Ala)
Xg.19359502A>GCA412396411PDHA1c.1043A>G (p.Glu348Gly)
c.*714A>G (n.*714A>G)
c.1106A>G (p.Glu369Gly)
c.1136A>G (p.Glu379Gly)
n.817A>G
c.*354A>G (n.*354A>G)
c.*477A>G (n.*477A>G)
c.1022A>G (p.Glu341Gly)
c.179A>G (p.Glu60Gly)
n.461A>G
c.929A>G (p.Glu310Gly)
c.1157A>G (p.Glu386Gly)
c.1064A>G (p.Glu355Gly)
 gnomAD v4
Xg.19359502A>TCA412396408PDHA1c.1043A>T (p.Glu348Val)
c.*714A>T (n.*714A>T)
c.1106A>T (p.Glu369Val)
c.1136A>T (p.Glu379Val)
n.817A>T
c.*354A>T (n.*354A>T)
c.*477A>T (n.*477A>T)
c.1022A>T (p.Glu341Val)
c.179A>T (p.Glu60Val)
n.461A>T
c.929A>T (p.Glu310Val)
c.1157A>T (p.Glu386Val)
c.1064A>T (p.Glu355Val)
Xg.19359503A>CCA412396413PDHA1c.1044A>C (p.Glu348Asp)
c.*715A>C (n.*715A>C)
c.1107A>C (p.Glu369Asp)
c.1137A>C (p.Glu379Asp)
n.818A>C
c.*355A>C (n.*355A>C)
c.*478A>C (n.*478A>C)
c.1023A>C (p.Glu341Asp)
c.180A>C (p.Glu60Asp)
n.462A>C
c.930A>C (p.Glu310Asp)
c.1158A>C (p.Glu386Asp)
c.1065A>C (p.Glu355Asp)
 gnomAD v4
Xg.19359503A>GCA515486410PDHA1c.1044A>G (p.Glu348=)
c.*715A>G (n.*715A>G)
c.1107A>G (p.Glu369=)
c.1137A>G (p.Glu379=)
n.818A>G
c.*355A>G (n.*355A>G)
c.*478A>G (n.*478A>G)
c.1023A>G (p.Glu341=)
c.180A>G (p.Glu60=)
n.462A>G
c.930A>G (p.Glu310=)
c.1158A>G (p.Glu386=)
c.1065A>G (p.Glu355=)
Xg.19359503A>TCA412396415PDHA1c.1044A>T (p.Glu348Asp)
c.*715A>T (n.*715A>T)
c.1107A>T (p.Glu369Asp)
c.1137A>T (p.Glu379Asp)
n.818A>T
c.*355A>T (n.*355A>T)
c.*478A>T (n.*478A>T)
c.1023A>T (p.Glu341Asp)
c.180A>T (p.Glu60Asp)
n.462A>T
c.930A>T (p.Glu310Asp)
c.1158A>T (p.Glu386Asp)
c.1065A>T (p.Glu355Asp)
Xg.19359504G>ACA412396418PDHA1c.1045G>A (p.Val349Met)
c.*716G>A (n.*716G>A)
c.1108G>A (p.Val370Met)
c.1138G>A (p.Val380Met)
n.819G>A
c.*356G>A (n.*356G>A)
c.*479G>A (n.*479G>A)
c.1024G>A (p.Val342Met)
c.181G>A (p.Val61Met)
n.463G>A
c.931G>A (p.Val311Met)
c.1159G>A (p.Val387Met)
c.1066G>A (p.Val356Met)
Xg.19359504G>CCA412396419PDHA1c.1045G>C (p.Val349Leu)
c.*716G>C (n.*716G>C)
c.1108G>C (p.Val370Leu)
c.1138G>C (p.Val380Leu)
n.819G>C
c.*356G>C (n.*356G>C)
c.*479G>C (n.*479G>C)
c.1024G>C (p.Val342Leu)
c.181G>C (p.Val61Leu)
n.463G>C
c.931G>C (p.Val311Leu)
c.1159G>C (p.Val387Leu)
c.1066G>C (p.Val356Leu)
Xg.19359504G>TCA412396421PDHA1c.1045G>T (p.Val349Leu)
c.*716G>T (n.*716G>T)
c.1108G>T (p.Val370Leu)
c.1138G>T (p.Val380Leu)
n.819G>T
c.*356G>T (n.*356G>T)
c.*479G>T (n.*479G>T)
c.1024G>T (p.Val342Leu)
c.181G>T (p.Val61Leu)
n.463G>T
c.931G>T (p.Val311Leu)
c.1159G>T (p.Val387Leu)
c.1066G>T (p.Val356Leu)
Xg.19359505_19359519delCA913184031PDHA1c.1046_1060del (p.Val349_Ile353del)
c.*717_*731del (n.*717_*731del)
c.1109_1123del (p.Val370_Ile374del)
c.1139_1153del (p.Val380_Ile384del)
n.820_834del
c.*357_*371del (n.*357_*371del)
c.*480_*494del (n.*480_*494del)
c.1025_1039del (p.Val342_Ile346del)
c.182_196del (p.Val61_Ile65del)
n.464_478del
c.932_946del (p.Val311_Ile315del)
c.1160_1174del (p.Val387_Ile391del)
c.1067_1081del (p.Val356_Ile360del)
Xg.19359505T>ACA412396424PDHA1c.1046T>A (p.Val349Glu)
c.*717T>A (n.*717T>A)
c.1109T>A (p.Val370Glu)
c.1139T>A (p.Val380Glu)
n.820T>A
c.*357T>A (n.*357T>A)
c.*480T>A (n.*480T>A)
c.1025T>A (p.Val342Glu)
c.182T>A (p.Val61Glu)
n.464T>A
c.932T>A (p.Val311Glu)
c.1160T>A (p.Val387Glu)
c.1067T>A (p.Val356Glu)
Xg.19359505T>CCA412396425PDHA1c.1046T>C (p.Val349Ala)
c.*717T>C (n.*717T>C)
c.1109T>C (p.Val370Ala)
c.1139T>C (p.Val380Ala)
n.820T>C
c.*357T>C (n.*357T>C)
c.*480T>C (n.*480T>C)
c.1025T>C (p.Val342Ala)
c.182T>C (p.Val61Ala)
n.464T>C
c.932T>C (p.Val311Ala)
c.1160T>C (p.Val387Ala)
c.1067T>C (p.Val356Ala)
Xg.19359505T>GCA16608807PDHA1c.1046T>G (p.Val349Gly)
c.*717T>G (n.*717T>G)
c.1109T>G (p.Val370Gly)
c.1139T>G (p.Val380Gly)
n.820T>G
c.*357T>G (n.*357T>G)
c.*480T>G (n.*480T>G)
c.1025T>G (p.Val342Gly)
c.182T>G (p.Val61Gly)
n.464T>G
c.932T>G (p.Val311Gly)
c.1160T>G (p.Val387Gly)
c.1067T>G (p.Val356Gly)
 ClinVar dbSNP gnomAD v4
Xg.19359505T=CA2418225564PDHA1c.1046T= (p.Val349=)
c.*717T= (n.*717T=)
c.1109T= (p.Val370=)
c.1139T= (p.Val380=)
n.820T=
c.*357T= (n.*357T=)
c.*480T= (n.*480T=)
c.1025T= (p.Val342=)
c.182T= (p.Val61=)
n.464T=
c.932T= (p.Val311=)
c.1160T= (p.Val387=)
c.1067T= (p.Val356=)
Xg.19359505_19359519delinsTGAGGAAGGAGATTGCA2418225565PDHA1c.1046_1060delinsTGAGGAAGGAGATTG (p.Val349=)
c.*717_*731delinsTGAGGAAGGAGATTG (n.*717_*731delinsTGAGGAAGGAGATTG)
c.1109_1123delinsTGAGGAAGGAGATTG (p.Val370=)
c.1139_1153delinsTGAGGAAGGAGATTG (p.Val380=)
n.820_834delinsTGAGGAAGGAGATTG
c.*357_*371delinsTGAGGAAGGAGATTG (n.*357_*371delinsTGAGGAAGGAGATTG)
c.*480_*494delinsTGAGGAAGGAGATTG (n.*480_*494delinsTGAGGAAGGAGATTG)
c.1025_1039delinsTGAGGAAGGAGATTG (p.Val342=)
c.182_196delinsTGAGGAAGGAGATTG (p.Val61=)
n.464_478delinsTGAGGAAGGAGATTG
c.932_946delinsTGAGGAAGGAGATTG (p.Val311=)
c.1160_1174delinsTGAGGAAGGAGATTG (p.Val387=)
c.1067_1081delinsTGAGGAAGGAGATTG (p.Val356=)
Xg.19359511_19359523delCA2695195968PDHA1c.1052_1064del (p.Lys351MetfsTer?)
c.*723_*735del (n.*723_*735del)
c.1115_1127del (p.Lys372MetfsTer?)
c.1145_1157del (p.Lys382MetfsTer?)
n.826_838del
c.*363_*375del (n.*363_*375del)
c.*486_*498del (n.*486_*498del)
c.1031_1043del (p.Lys344MetfsTer?)
c.188_200del (p.Lys63MetfsTer?)
n.470_482del
c.938_950del (p.Lys313MetfsTer?)
c.1166_1178del (p.Lys389MetfsTer?)
c.1073_1085del (p.Lys358MetfsTer?)
Xg.19359506G>ACA515486413PDHA1c.1047G>A (p.Val349=)
c.*718G>A (n.*718G>A)
c.1110G>A (p.Val370=)
c.1140G>A (p.Val380=)
n.821G>A
c.*358G>A (n.*358G>A)
c.*481G>A (n.*481G>A)
c.1026G>A (p.Val342=)
c.183G>A (p.Val61=)
n.465G>A
c.933G>A (p.Val311=)
c.1161G>A (p.Val387=)
c.1068G>A (p.Val356=)
 ClinVar dbSNP
Xg.19359506G>CCA515486412PDHA1c.1047G>C (p.Val349=)
c.*718G>C (n.*718G>C)
c.1110G>C (p.Val370=)
c.1140G>C (p.Val380=)
n.821G>C
c.*358G>C (n.*358G>C)
c.*481G>C (n.*481G>C)
c.1026G>C (p.Val342=)
c.183G>C (p.Val61=)
n.465G>C
c.933G>C (p.Val311=)
c.1161G>C (p.Val387=)
c.1068G>C (p.Val356=)
Xg.19359506G=CA2418225566PDHA1c.1047G= (p.Val349=)
c.*718G= (n.*718G=)
c.1110G= (p.Val370=)
c.1140G= (p.Val380=)
n.821G=
c.*358G= (n.*358G=)
c.*481G= (n.*481G=)
c.1026G= (p.Val342=)
c.183G= (p.Val61=)
n.465G=
c.933G= (p.Val311=)
c.1161G= (p.Val387=)
c.1068G= (p.Val356=)
Xg.19359506G>TCA515486411PDHA1c.1047G>T (p.Val349=)
c.*718G>T (n.*718G>T)
c.1110G>T (p.Val370=)
c.1140G>T (p.Val380=)
n.821G>T
c.*358G>T (n.*358G>T)
c.*481G>T (n.*481G>T)
c.1026G>T (p.Val342=)
c.183G>T (p.Val61=)
n.465G>T
c.933G>T (p.Val311=)
c.1161G>T (p.Val387=)
c.1068G>T (p.Val356=)
Xg.19359506_19359519delCA658823892PDHA1c.1047_1060del (p.Arg350GlyfsTer11)
c.*718_*731del (n.*718_*731del)
c.1110_1123del (p.Arg371GlyfsTer11)
c.1140_1153del (p.Arg381GlyfsTer11)
n.821_834del
c.*358_*371del (n.*358_*371del)
c.*481_*494del (n.*481_*494del)
c.1026_1039del (p.Arg343GlyfsTer11)
c.183_196del (p.Arg62GlyfsTer11)
n.465_478del
c.933_946del (p.Arg312GlyfsTer11)
c.1161_1174del (p.Arg388GlyfsTer11)
c.1068_1081del (p.Arg357GlyfsTer11)
 ClinVar dbSNP
Xg.19359507A>CCA515486414PDHA1c.1048A>C (p.Arg350=)
c.*719A>C (n.*719A>C)
c.1111A>C (p.Arg371=)
c.1141A>C (p.Arg381=)
n.822A>C
c.*359A>C (n.*359A>C)
c.*482A>C (n.*482A>C)
c.1027A>C (p.Arg343=)
c.184A>C (p.Arg62=)
n.466A>C
c.934A>C (p.Arg312=)
c.1162A>C (p.Arg388=)
c.1069A>C (p.Arg357=)
Xg.19359507A>GCA412396427PDHA1c.1048A>G (p.Arg350Gly)
c.*719A>G (n.*719A>G)
c.1111A>G (p.Arg371Gly)
c.1141A>G (p.Arg381Gly)
n.822A>G
c.*359A>G (n.*359A>G)
c.*482A>G (n.*482A>G)
c.1027A>G (p.Arg343Gly)
c.184A>G (p.Arg62Gly)
n.466A>G
c.934A>G (p.Arg312Gly)
c.1162A>G (p.Arg388Gly)
c.1069A>G (p.Arg357Gly)
Xg.19359507A>TCA412396429PDHA1c.1048A>T (p.Arg350Trp)
c.*719A>T (n.*719A>T)
c.1111A>T (p.Arg371Trp)
c.1141A>T (p.Arg381Trp)
n.822A>T
c.*359A>T (n.*359A>T)
c.*482A>T (n.*482A>T)
c.1027A>T (p.Arg343Trp)
c.184A>T (p.Arg62Trp)
n.466A>T
c.934A>T (p.Arg312Trp)
c.1162A>T (p.Arg388Trp)
c.1069A>T (p.Arg357Trp)
Xg.19359508G>ACA412396436PDHA1c.1049G>A (p.Arg350Lys)
c.*720G>A (n.*720G>A)
c.1112G>A (p.Arg371Lys)
c.1142G>A (p.Arg381Lys)
n.823G>A
c.*360G>A (n.*360G>A)
c.*483G>A (n.*483G>A)
c.1028G>A (p.Arg343Lys)
c.185G>A (p.Arg62Lys)
n.467G>A
c.935G>A (p.Arg312Lys)
c.1163G>A (p.Arg388Lys)
c.1070G>A (p.Arg357Lys)
Xg.19359508G>CCA412396432PDHA1c.1049G>C (p.Arg350Thr)
c.*720G>C (n.*720G>C)
c.1112G>C (p.Arg371Thr)
c.1142G>C (p.Arg381Thr)
n.823G>C
c.*360G>C (n.*360G>C)
c.*483G>C (n.*483G>C)
c.1028G>C (p.Arg343Thr)
c.185G>C (p.Arg62Thr)
n.467G>C
c.935G>C (p.Arg312Thr)
c.1163G>C (p.Arg388Thr)
c.1070G>C (p.Arg357Thr)
Xg.19359508G>TCA412396433PDHA1c.1049G>T (p.Arg350Met)
c.*720G>T (n.*720G>T)
c.1112G>T (p.Arg371Met)
c.1142G>T (p.Arg381Met)
n.823G>T
c.*360G>T (n.*360G>T)
c.*483G>T (n.*483G>T)
c.1028G>T (p.Arg343Met)
c.185G>T (p.Arg62Met)
n.467G>T
c.935G>T (p.Arg312Met)
c.1163G>T (p.Arg388Met)
c.1070G>T (p.Arg357Met)
Xg.19359509G>ACA515486415PDHA1c.1050G>A (p.Arg350=)
c.*721G>A (n.*721G>A)
c.1113G>A (p.Arg371=)
c.1143G>A (p.Arg381=)
n.824G>A
c.*361G>A (n.*361G>A)
c.*484G>A (n.*484G>A)
c.1029G>A (p.Arg343=)
c.186G>A (p.Arg62=)
n.468G>A
c.936G>A (p.Arg312=)
c.1164G>A (p.Arg388=)
c.1071G>A (p.Arg357=)
Xg.19359509G>CCA412396437PDHA1c.1050G>C (p.Arg350Ser)
c.*721G>C (n.*721G>C)
c.1113G>C (p.Arg371Ser)
c.1143G>C (p.Arg381Ser)
n.824G>C
c.*361G>C (n.*361G>C)
c.*484G>C (n.*484G>C)
c.1029G>C (p.Arg343Ser)
c.186G>C (p.Arg62Ser)
n.468G>C
c.936G>C (p.Arg312Ser)
c.1164G>C (p.Arg388Ser)
c.1071G>C (p.Arg357Ser)
Xg.19359509G>TCA412396438PDHA1c.1050G>T (p.Arg350Ser)
c.*721G>T (n.*721G>T)
c.1113G>T (p.Arg371Ser)
c.1143G>T (p.Arg381Ser)
n.824G>T
c.*361G>T (n.*361G>T)
c.*484G>T (n.*484G>T)
c.1029G>T (p.Arg343Ser)
c.186G>T (p.Arg62Ser)
n.468G>T
c.936G>T (p.Arg312Ser)
c.1164G>T (p.Arg388Ser)
c.1071G>T (p.Arg357Ser)
Xg.19359510A>CCA412396440PDHA1c.1051A>C (p.Lys351Gln)
c.*722A>C (n.*722A>C)
c.1114A>C (p.Lys372Gln)
c.1144A>C (p.Lys382Gln)
n.825A>C
c.*362A>C (n.*362A>C)
c.*485A>C (n.*485A>C)
c.1030A>C (p.Lys344Gln)
c.187A>C (p.Lys63Gln)
n.469A>C
c.937A>C (p.Lys313Gln)
c.1165A>C (p.Lys389Gln)
c.1072A>C (p.Lys358Gln)
Xg.19359510A>GCA412396442PDHA1c.1051A>G (p.Lys351Glu)
c.*722A>G (n.*722A>G)
c.1114A>G (p.Lys372Glu)
c.1144A>G (p.Lys382Glu)
n.825A>G
c.*362A>G (n.*362A>G)
c.*485A>G (n.*485A>G)
c.1030A>G (p.Lys344Glu)
c.187A>G (p.Lys63Glu)
n.469A>G
c.937A>G (p.Lys313Glu)
c.1165A>G (p.Lys389Glu)
c.1072A>G (p.Lys358Glu)
 gnomAD v4
Xg.19359510A>TCA412396444PDHA1c.1051A>T (p.Lys351Ter)
c.*722A>T (n.*722A>T)
c.1114A>T (p.Lys372Ter)
c.1144A>T (p.Lys382Ter)
n.825A>T
c.*362A>T (n.*362A>T)
c.*485A>T (n.*485A>T)
c.1030A>T (p.Lys344Ter)
c.187A>T (p.Lys63Ter)
n.469A>T
c.937A>T (p.Lys313Ter)
c.1165A>T (p.Lys389Ter)
c.1072A>T (p.Lys358Ter)
Xg.19359511A=CA2418225567PDHA1c.1052A= (p.Lys351=)
c.*723A= (n.*723A=)
c.1115A= (p.Lys372=)
c.1145A= (p.Lys382=)
n.826A=
c.*363A= (n.*363A=)
c.*486A= (n.*486A=)
c.1031A= (p.Lys344=)
c.188A= (p.Lys63=)
n.470A=
c.938A= (p.Lys313=)
c.1166A= (p.Lys389=)
c.1073A= (p.Lys358=)
Xg.19359511A>CCA412396446PDHA1c.1052A>C (p.Lys351Thr)
c.*723A>C (n.*723A>C)
c.1115A>C (p.Lys372Thr)
c.1145A>C (p.Lys382Thr)
n.826A>C
c.*363A>C (n.*363A>C)
c.*486A>C (n.*486A>C)
c.1031A>C (p.Lys344Thr)
c.188A>C (p.Lys63Thr)
n.470A>C
c.938A>C (p.Lys313Thr)
c.1166A>C (p.Lys389Thr)
c.1073A>C (p.Lys358Thr)
Xg.19359511A>GCA412396448PDHA1c.1052A>G (p.Lys351Arg)
c.*723A>G (n.*723A>G)
c.1115A>G (p.Lys372Arg)
c.1145A>G (p.Lys382Arg)
n.826A>G
c.*363A>G (n.*363A>G)
c.*486A>G (n.*486A>G)
c.1031A>G (p.Lys344Arg)
c.188A>G (p.Lys63Arg)
n.470A>G
c.938A>G (p.Lys313Arg)
c.1166A>G (p.Lys389Arg)
c.1073A>G (p.Lys358Arg)
 ClinVar dbSNP gnomAD v4
Xg.19359511A>TCA412396450PDHA1c.1052A>T (p.Lys351Met)
c.*723A>T (n.*723A>T)
c.1115A>T (p.Lys372Met)
c.1145A>T (p.Lys382Met)
n.826A>T
c.*363A>T (n.*363A>T)
c.*486A>T (n.*486A>T)
c.1031A>T (p.Lys344Met)
c.188A>T (p.Lys63Met)
n.470A>T
c.938A>T (p.Lys313Met)
c.1166A>T (p.Lys389Met)
c.1073A>T (p.Lys358Met)
Xg.19359513_19359515dupCA2580100435PDHA1c.1054_1056dup (p.Glu352_Ile353insGlu)
c.*725_*727dup (n.*725_*727dup)
c.1117_1119dup (p.Glu373_Ile374insGlu)
c.1147_1149dup (p.Glu383_Ile384insGlu)
n.828_830dup
c.*365_*367dup (n.*365_*367dup)
c.*488_*490dup (n.*488_*490dup)
c.1033_1035dup (p.Glu345_Ile346insGlu)
c.190_192dup (p.Glu64_Ile65insGlu)
n.472_474dup
c.940_942dup (p.Glu314_Ile315insGlu)
c.1168_1170dup (p.Glu390_Ile391insGlu)
c.1075_1077dup (p.Glu359_Ile360insGlu)
 ClinVar
Xg.19359512G>ACA515486416PDHA1c.1053G>A (p.Lys351=)
c.*724G>A (n.*724G>A)
c.1116G>A (p.Lys372=)
c.1146G>A (p.Lys382=)
n.827G>A
c.*364G>A (n.*364G>A)
c.*487G>A (n.*487G>A)
c.1032G>A (p.Lys344=)
c.189G>A (p.Lys63=)
n.471G>A
c.939G>A (p.Lys313=)
c.1167G>A (p.Lys389=)
c.1074G>A (p.Lys358=)
Xg.19359512G>CCA412396452PDHA1c.1053G>C (p.Lys351Asn)
c.*724G>C (n.*724G>C)
c.1116G>C (p.Lys372Asn)
c.1146G>C (p.Lys382Asn)
n.827G>C
c.*364G>C (n.*364G>C)
c.*487G>C (n.*487G>C)
c.1032G>C (p.Lys344Asn)
c.189G>C (p.Lys63Asn)
n.471G>C
c.939G>C (p.Lys313Asn)
c.1167G>C (p.Lys389Asn)
c.1074G>C (p.Lys358Asn)
Xg.19359512G=CA2418225568PDHA1c.1053G= (p.Lys351=)
c.*724G= (n.*724G=)
c.1116G= (p.Lys372=)
c.1146G= (p.Lys382=)
n.827G=
c.*364G= (n.*364G=)
c.*487G= (n.*487G=)
c.1032G= (p.Lys344=)
c.189G= (p.Lys63=)
n.471G=
c.939G= (p.Lys313=)
c.1167G= (p.Lys389=)
c.1074G= (p.Lys358=)
Xg.19359512G>TCA412396454PDHA1c.1053G>T (p.Lys351Asn)
c.*724G>T (n.*724G>T)
c.1116G>T (p.Lys372Asn)
c.1146G>T (p.Lys382Asn)
n.827G>T
c.*364G>T (n.*364G>T)
c.*487G>T (n.*487G>T)
c.1032G>T (p.Lys344Asn)
c.189G>T (p.Lys63Asn)
n.471G>T
c.939G>T (p.Lys313Asn)
c.1167G>T (p.Lys389Asn)
c.1074G>T (p.Lys358Asn)
Xg.19359513G>ACA412396459PDHA1c.1054G>A (p.Glu352Lys)
c.*725G>A (n.*725G>A)
c.1117G>A (p.Glu373Lys)
c.1147G>A (p.Glu383Lys)
n.828G>A
c.*365G>A (n.*365G>A)
c.*488G>A (n.*488G>A)
c.1033G>A (p.Glu345Lys)
c.190G>A (p.Glu64Lys)
n.472G>A
c.940G>A (p.Glu314Lys)
c.1168G>A (p.Glu390Lys)
c.1075G>A (p.Glu359Lys)
 gnomAD v4
Xg.19359513G>CCA412396460PDHA1c.1054G>C (p.Glu352Gln)
c.*725G>C (n.*725G>C)
c.1117G>C (p.Glu373Gln)
c.1147G>C (p.Glu383Gln)
n.828G>C
c.*365G>C (n.*365G>C)
c.*488G>C (n.*488G>C)
c.1033G>C (p.Glu345Gln)
c.190G>C (p.Glu64Gln)
n.472G>C
c.940G>C (p.Glu314Gln)
c.1168G>C (p.Glu390Gln)
c.1075G>C (p.Glu359Gln)
Xg.19359513G=CA2418225570PDHA1c.1054G= (p.Glu352=)
c.*725G= (n.*725G=)
c.1117G= (p.Glu373=)
c.1147G= (p.Glu383=)
n.828G=
c.*365G= (n.*365G=)
c.*488G= (n.*488G=)
c.1033G= (p.Glu345=)
c.190G= (p.Glu64=)
n.472G=
c.940G= (p.Glu314=)
c.1168G= (p.Glu390=)
c.1075G= (p.Glu359=)
Xg.19359513G>TCA412396457PDHA1c.1054G>T (p.Glu352Ter)
c.*725G>T (n.*725G>T)
c.1117G>T (p.Glu373Ter)
c.1147G>T (p.Glu383Ter)
n.828G>T
c.*365G>T (n.*365G>T)
c.*488G>T (n.*488G>T)
c.1033G>T (p.Glu345Ter)
c.190G>T (p.Glu64Ter)
n.472G>T
c.940G>T (p.Glu314Ter)
c.1168G>T (p.Glu390Ter)
c.1075G>T (p.Glu359Ter)
Xg.19359515_19359516dupCA2418225569PDHA1c.1056_1057dup (p.Ile353ArgfsTer?)
c.*727_*728dup (n.*727_*728dup)
c.1119_1120dup (p.Ile374ArgfsTer?)
c.1149_1150dup (p.Ile384ArgfsTer?)
n.830_831dup
c.*367_*368dup (n.*367_*368dup)
c.*490_*491dup (n.*490_*491dup)
c.1035_1036dup (p.Ile346ArgfsTer?)
c.192_193dup (p.Ile65ArgfsTer?)
n.474_475dup
c.942_943dup (p.Ile315ArgfsTer?)
c.1170_1171dup (p.Ile391ArgfsTer?)
c.1077_1078dup (p.Ile360ArgfsTer?)
 ClinVar dbSNP
Xg.19359514A>CCA412396463PDHA1c.1055A>C (p.Glu352Ala)
c.*726A>C (n.*726A>C)
c.1118A>C (p.Glu373Ala)
c.1148A>C (p.Glu383Ala)
n.829A>C
c.*366A>C (n.*366A>C)
c.*489A>C (n.*489A>C)
c.1034A>C (p.Glu345Ala)
c.191A>C (p.Glu64Ala)
n.473A>C
c.941A>C (p.Glu314Ala)
c.1169A>C (p.Glu390Ala)
c.1076A>C (p.Glu359Ala)
Xg.19359514A>GCA412396465PDHA1c.1055A>G (p.Glu352Gly)
c.*726A>G (n.*726A>G)
c.1118A>G (p.Glu373Gly)
c.1148A>G (p.Glu383Gly)
n.829A>G
c.*366A>G (n.*366A>G)
c.*489A>G (n.*489A>G)
c.1034A>G (p.Glu345Gly)
c.191A>G (p.Glu64Gly)
n.473A>G
c.941A>G (p.Glu314Gly)
c.1169A>G (p.Glu390Gly)
c.1076A>G (p.Glu359Gly)
Xg.19359514A>TCA412396466PDHA1c.1055A>T (p.Glu352Val)
c.*726A>T (n.*726A>T)
c.1118A>T (p.Glu373Val)
c.1148A>T (p.Glu383Val)
n.829A>T
c.*366A>T (n.*366A>T)
c.*489A>T (n.*489A>T)
c.1034A>T (p.Glu345Val)
c.191A>T (p.Glu64Val)
n.473A>T
c.941A>T (p.Glu314Val)
c.1169A>T (p.Glu390Val)
c.1076A>T (p.Glu359Val)
Xg.19359514_19359517dupCA658658932PDHA1c.1055_1058dup (p.Glu354AspfsTer2)
c.*726_*729dup (n.*726_*729dup)
c.1118_1121dup (p.Glu375AspfsTer2)
c.1148_1151dup (p.Glu385AspfsTer2)
n.829_832dup
c.*366_*369dup (n.*366_*369dup)
c.*489_*492dup (n.*489_*492dup)
c.1034_1037dup (p.Glu347AspfsTer2)
c.191_194dup (p.Glu66AspfsTer2)
n.473_476dup
c.941_944dup (p.Glu316AspfsTer2)
c.1169_1172dup (p.Glu392AspfsTer2)
c.1076_1079dup (p.Glu361AspfsTer2)
 ClinVar dbSNP
Xg.19359515G>ACA327031118PDHA1c.1056G>A (p.Glu352=)
c.*727G>A (n.*727G>A)
c.1119G>A (p.Glu373=)
c.1149G>A (p.Glu383=)
n.830G>A
c.*367G>A (n.*367G>A)
c.*490G>A (n.*490G>A)
c.1035G>A (p.Glu345=)
c.192G>A (p.Glu64=)
n.474G>A
c.942G>A (p.Glu314=)
c.1170G>A (p.Glu390=)
c.1077G>A (p.Glu359=)
 dbSNP gnomAD v3 gnomAD v4
Xg.19359515G>CCA412396469PDHA1c.1056G>C (p.Glu352Asp)
c.*727G>C (n.*727G>C)
c.1119G>C (p.Glu373Asp)
c.1149G>C (p.Glu383Asp)
n.830G>C
c.*367G>C (n.*367G>C)
c.*490G>C (n.*490G>C)
c.1035G>C (p.Glu345Asp)
c.192G>C (p.Glu64Asp)
n.474G>C
c.942G>C (p.Glu314Asp)
c.1170G>C (p.Glu390Asp)
c.1077G>C (p.Glu359Asp)
Xg.19359515G=CA2418225571PDHA1c.1056G= (p.Glu352=)
c.*727G= (n.*727G=)
c.1119G= (p.Glu373=)
c.1149G= (p.Glu383=)
n.830G=
c.*367G= (n.*367G=)
c.*490G= (n.*490G=)
c.1035G= (p.Glu345=)
c.192G= (p.Glu64=)
n.474G=
c.942G= (p.Glu314=)
c.1170G= (p.Glu390=)
c.1077G= (p.Glu359=)
Xg.19359515G>TCA412396470PDHA1c.1056G>T (p.Glu352Asp)
c.*727G>T (n.*727G>T)
c.1119G>T (p.Glu373Asp)
c.1149G>T (p.Glu383Asp)
n.830G>T
c.*367G>T (n.*367G>T)
c.*490G>T (n.*490G>T)
c.1035G>T (p.Glu345Asp)
c.192G>T (p.Glu64Asp)
n.474G>T
c.942G>T (p.Glu314Asp)
c.1170G>T (p.Glu390Asp)
c.1077G>T (p.Glu359Asp)
 ClinVar
Xg.19359516A>CCA412396473PDHA1c.1057A>C (p.Ile353Leu)
c.*728A>C (n.*728A>C)
c.1120A>C (p.Ile374Leu)
c.1150A>C (p.Ile384Leu)
n.831A>C
c.*368A>C (n.*368A>C)
c.*491A>C (n.*491A>C)
c.1036A>C (p.Ile346Leu)
c.193A>C (p.Ile65Leu)
n.475A>C
c.943A>C (p.Ile315Leu)
c.1171A>C (p.Ile391Leu)
c.1078A>C (p.Ile360Leu)
Xg.19359516A>GCA412396475PDHA1c.1057A>G (p.Ile353Val)
c.*728A>G (n.*728A>G)
c.1120A>G (p.Ile374Val)
c.1150A>G (p.Ile384Val)
n.831A>G
c.*368A>G (n.*368A>G)
c.*491A>G (n.*491A>G)
c.1036A>G (p.Ile346Val)
c.193A>G (p.Ile65Val)
n.475A>G
c.943A>G (p.Ile315Val)
c.1171A>G (p.Ile391Val)
c.1078A>G (p.Ile360Val)
Xg.19359516A>TCA412396476PDHA1c.1057A>T (p.Ile353Phe)
c.*728A>T (n.*728A>T)
c.1120A>T (p.Ile374Phe)
c.1150A>T (p.Ile384Phe)
n.831A>T
c.*368A>T (n.*368A>T)
c.*491A>T (n.*491A>T)
c.1036A>T (p.Ile346Phe)
c.193A>T (p.Ile65Phe)
n.475A>T
c.943A>T (p.Ile315Phe)
c.1171A>T (p.Ile391Phe)
c.1078A>T (p.Ile360Phe)
Xg.19359517T>ACA412396479PDHA1c.1058T>A (p.Ile353Asn)
c.*729T>A (n.*729T>A)
c.1121T>A (p.Ile374Asn)
c.1151T>A (p.Ile384Asn)
n.832T>A
c.*369T>A (n.*369T>A)
c.*492T>A (n.*492T>A)
c.1037T>A (p.Ile346Asn)
c.194T>A (p.Ile65Asn)
n.476T>A
c.944T>A (p.Ile315Asn)
c.1172T>A (p.Ile391Asn)
c.1079T>A (p.Ile360Asn)
Xg.19359517T>CCA412396481PDHA1c.1058T>C (p.Ile353Thr)
c.*729T>C (n.*729T>C)
c.1121T>C (p.Ile374Thr)
c.1151T>C (p.Ile384Thr)
n.832T>C
c.*369T>C (n.*369T>C)
c.*492T>C (n.*492T>C)
c.1037T>C (p.Ile346Thr)
c.194T>C (p.Ile65Thr)
n.476T>C
c.944T>C (p.Ile315Thr)
c.1172T>C (p.Ile391Thr)
c.1079T>C (p.Ile360Thr)
Xg.19359517T>GCA412396483PDHA1c.1058T>G (p.Ile353Ser)
c.*729T>G (n.*729T>G)
c.1121T>G (p.Ile374Ser)
c.1151T>G (p.Ile384Ser)
n.832T>G
c.*369T>G (n.*369T>G)
c.*492T>G (n.*492T>G)
c.1037T>G (p.Ile346Ser)
c.194T>G (p.Ile65Ser)
n.476T>G
c.944T>G (p.Ile315Ser)
c.1172T>G (p.Ile391Ser)
c.1079T>G (p.Ile360Ser)
Xg.19359518T>ACA515486417PDHA1c.1059T>A (p.Ile353=)
c.*730T>A (n.*730T>A)
c.1122T>A (p.Ile374=)
c.1152T>A (p.Ile384=)
n.833T>A
c.*370T>A (n.*370T>A)
c.*493T>A (n.*493T>A)
c.1038T>A (p.Ile346=)
c.195T>A (p.Ile65=)
n.477T>A
c.945T>A (p.Ile315=)
c.1173T>A (p.Ile391=)
c.1080T>A (p.Ile360=)
Xg.19359518T>CCA515486418PDHA1c.1059T>C (p.Ile353=)
c.*730T>C (n.*730T>C)
c.1122T>C (p.Ile374=)
c.1152T>C (p.Ile384=)
n.833T>C
c.*370T>C (n.*370T>C)
c.*493T>C (n.*493T>C)
c.1038T>C (p.Ile346=)
c.195T>C (p.Ile65=)
n.477T>C
c.945T>C (p.Ile315=)
c.1173T>C (p.Ile391=)
c.1080T>C (p.Ile360=)
 ClinVar dbSNP
Xg.19359518T>GCA412396485PDHA1c.1059T>G (p.Ile353Met)
c.*730T>G (n.*730T>G)
c.1122T>G (p.Ile374Met)
c.1152T>G (p.Ile384Met)
n.833T>G
c.*370T>G (n.*370T>G)
c.*493T>G (n.*493T>G)
c.1038T>G (p.Ile346Met)
c.195T>G (p.Ile65Met)
n.477T>G
c.945T>G (p.Ile315Met)
c.1173T>G (p.Ile391Met)
c.1080T>G (p.Ile360Met)
Xg.19359520_19359528dupCA2695231668PDHA1c.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)
Xg.19359519G>ACA412396491PDHA1c.1060G>A (p.Glu354Lys)
c.*731G>A (n.*731G>A)
c.1123G>A (p.Glu375Lys)
c.1153G>A (p.Glu385Lys)
n.834G>A
c.*371G>A (n.*371G>A)
c.*494G>A (n.*494G>A)
c.1039G>A (p.Glu347Lys)
c.196G>A (p.Glu66Lys)
n.478G>A
c.946G>A (p.Glu316Lys)
c.1174G>A (p.Glu392Lys)
c.1081G>A (p.Glu361Lys)
Xg.19359519G>CCA412396487PDHA1c.1060G>C (p.Glu354Gln)
c.*731G>C (n.*731G>C)
c.1123G>C (p.Glu375Gln)
c.1153G>C (p.Glu385Gln)
n.834G>C
c.*371G>C (n.*371G>C)
c.*494G>C (n.*494G>C)
c.1039G>C (p.Glu347Gln)
c.196G>C (p.Glu66Gln)
n.478G>C
c.946G>C (p.Glu316Gln)
c.1174G>C (p.Glu392Gln)
c.1081G>C (p.Glu361Gln)
Xg.19359519G>TCA412396489PDHA1c.1060G>T (p.Glu354Ter)
c.*731G>T (n.*731G>T)
c.1123G>T (p.Glu375Ter)
c.1153G>T (p.Glu385Ter)
n.834G>T
c.*371G>T (n.*371G>T)
c.*494G>T (n.*494G>T)
c.1039G>T (p.Glu347Ter)
c.196G>T (p.Glu66Ter)
n.478G>T
c.946G>T (p.Glu316Ter)
c.1174G>T (p.Glu392Ter)
c.1081G>T (p.Glu361Ter)
Xg.19359520A>CCA412396494PDHA1c.1061A>C (p.Glu354Ala)
c.*732A>C (n.*732A>C)
c.1124A>C (p.Glu375Ala)
c.1154A>C (p.Glu385Ala)
n.835A>C
c.*372A>C (n.*372A>C)
c.*495A>C (n.*495A>C)
c.1040A>C (p.Glu347Ala)
c.197A>C (p.Glu66Ala)
n.479A>C
c.947A>C (p.Glu316Ala)
c.1175A>C (p.Glu392Ala)
c.1082A>C (p.Glu361Ala)
Xg.19359520A>GCA412396496PDHA1c.1061A>G (p.Glu354Gly)
c.*732A>G (n.*732A>G)
c.1124A>G (p.Glu375Gly)
c.1154A>G (p.Glu385Gly)
n.835A>G
c.*372A>G (n.*372A>G)
c.*495A>G (n.*495A>G)
c.1040A>G (p.Glu347Gly)
c.197A>G (p.Glu66Gly)
n.479A>G
c.947A>G (p.Glu316Gly)
c.1175A>G (p.Glu392Gly)
c.1082A>G (p.Glu361Gly)
Xg.19359520A>TCA412396497PDHA1c.1061A>T (p.Glu354Val)
c.*732A>T (n.*732A>T)
c.1124A>T (p.Glu375Val)
c.1154A>T (p.Glu385Val)
n.835A>T
c.*372A>T (n.*372A>T)
c.*495A>T (n.*495A>T)
c.1040A>T (p.Glu347Val)
c.197A>T (p.Glu66Val)
n.479A>T
c.947A>T (p.Glu316Val)
c.1175A>T (p.Glu392Val)
c.1082A>T (p.Glu361Val)
Xg.19359522_19359533delCA2697552883PDHA1c.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
Xg.19359521G>ACA515486419PDHA1c.1062G>A (p.Glu354=)
c.*733G>A (n.*733G>A)
c.1125G>A (p.Glu375=)
c.1155G>A (p.Glu385=)
n.836G>A
c.*373G>A (n.*373G>A)
c.*496G>A (n.*496G>A)
c.1041G>A (p.Glu347=)
c.198G>A (p.Glu66=)
n.480G>A
c.948G>A (p.Glu316=)
c.1176G>A (p.Glu392=)
c.1083G>A (p.Glu361=)
Xg.19359521G>CCA412396498PDHA1c.1062G>C (p.Glu354Asp)
c.*733G>C (n.*733G>C)
c.1125G>C (p.Glu375Asp)
c.1155G>C (p.Glu385Asp)
n.836G>C
c.*373G>C (n.*373G>C)
c.*496G>C (n.*496G>C)
c.1041G>C (p.Glu347Asp)
c.198G>C (p.Glu66Asp)
n.480G>C
c.948G>C (p.Glu316Asp)
c.1176G>C (p.Glu392Asp)
c.1083G>C (p.Glu361Asp)
Xg.19359521G=CA2418225572PDHA1c.1062G= (p.Glu354=)
c.*733G= (n.*733G=)
c.1125G= (p.Glu375=)
c.1155G= (p.Glu385=)
n.836G=
c.*373G= (n.*373G=)
c.*496G= (n.*496G=)
c.1041G= (p.Glu347=)
c.198G= (p.Glu66=)
n.480G=
c.948G= (p.Glu316=)
c.1176G= (p.Glu392=)
c.1083G= (p.Glu361=)
Xg.19359521G>TCA412396500PDHA1c.1062G>T (p.Glu354Asp)
c.*733G>T (n.*733G>T)
c.1125G>T (p.Glu375Asp)
c.1155G>T (p.Glu385Asp)
n.836G>T
c.*373G>T (n.*373G>T)
c.*496G>T (n.*496G>T)
c.1041G>T (p.Glu347Asp)
c.198G>T (p.Glu66Asp)
n.480G>T
c.948G>T (p.Glu316Asp)
c.1176G>T (p.Glu392Asp)
c.1083G>T (p.Glu361Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359522G>ACA412396502PDHA1c.1063G>A (p.Asp355Asn)
c.*734G>A (n.*734G>A)
c.1126G>A (p.Asp376Asn)
c.1156G>A (p.Asp386Asn)
n.837G>A
c.*374G>A (n.*374G>A)
c.*497G>A (n.*497G>A)
c.1042G>A (p.Asp348Asn)
c.199G>A (p.Asp67Asn)
n.481G>A
c.949G>A (p.Asp317Asn)
c.1177G>A (p.Asp393Asn)
c.1084G>A (p.Asp362Asn)
Xg.19359522G>CCA412396504PDHA1c.1063G>C (p.Asp355His)
c.*734G>C (n.*734G>C)
c.1126G>C (p.Asp376His)
c.1156G>C (p.Asp386His)
n.837G>C
c.*374G>C (n.*374G>C)
c.*497G>C (n.*497G>C)
c.1042G>C (p.Asp348His)
c.199G>C (p.Asp67His)
n.481G>C
c.949G>C (p.Asp317His)
c.1177G>C (p.Asp393His)
c.1084G>C (p.Asp362His)
Xg.19359522G>TCA412396506PDHA1c.1063G>T (p.Asp355Tyr)
c.*734G>T (n.*734G>T)
c.1126G>T (p.Asp376Tyr)
c.1156G>T (p.Asp386Tyr)
n.837G>T
c.*374G>T (n.*374G>T)
c.*497G>T (n.*497G>T)
c.1042G>T (p.Asp348Tyr)
c.199G>T (p.Asp67Tyr)
n.481G>T
c.949G>T (p.Asp317Tyr)
c.1177G>T (p.Asp393Tyr)
c.1084G>T (p.Asp362Tyr)
Xg.19359523_19359533delCA2580100436PDHA1c.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
Xg.19359523A=CA2418225573PDHA1c.1064A= (p.Asp355=)
c.*735A= (n.*735A=)
c.1127A= (p.Asp376=)
c.1157A= (p.Asp386=)
n.838A=
c.*375A= (n.*375A=)
c.*498A= (n.*498A=)
c.1043A= (p.Asp348=)
c.200A= (p.Asp67=)
n.482A=
c.950A= (p.Asp317=)
c.1178A= (p.Asp393=)
c.1085A= (p.Asp362=)
Xg.19359523A>CCA412396508PDHA1c.1064A>C (p.Asp355Ala)
c.*735A>C (n.*735A>C)
c.1127A>C (p.Asp376Ala)
c.1157A>C (p.Asp386Ala)
n.838A>C
c.*375A>C (n.*375A>C)
c.*498A>C (n.*498A>C)
c.1043A>C (p.Asp348Ala)
c.200A>C (p.Asp67Ala)
n.482A>C
c.950A>C (p.Asp317Ala)
c.1178A>C (p.Asp393Ala)
c.1085A>C (p.Asp362Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359523A>GCA412396510PDHA1c.1064A>G (p.Asp355Gly)
c.*735A>G (n.*735A>G)
c.1127A>G (p.Asp376Gly)
c.1157A>G (p.Asp386Gly)
n.838A>G
c.*375A>G (n.*375A>G)
c.*498A>G (n.*498A>G)
c.1043A>G (p.Asp348Gly)
c.200A>G (p.Asp67Gly)
n.482A>G
c.950A>G (p.Asp317Gly)
c.1178A>G (p.Asp393Gly)
c.1085A>G (p.Asp362Gly)
Xg.19359523A>TCA412396512PDHA1c.1064A>T (p.Asp355Val)
c.*735A>T (n.*735A>T)
c.1127A>T (p.Asp376Val)
c.1157A>T (p.Asp386Val)
n.838A>T
c.*375A>T (n.*375A>T)
c.*498A>T (n.*498A>T)
c.1043A>T (p.Asp348Val)
c.200A>T (p.Asp67Val)
n.482A>T
c.950A>T (p.Asp317Val)
c.1178A>T (p.Asp393Val)
c.1085A>T (p.Asp362Val)
 ClinVar gnomAD v4
Xg.19359524T>ACA412396515PDHA1c.1065T>A (p.Asp355Glu)
c.*736T>A (n.*736T>A)
c.1128T>A (p.Asp376Glu)
c.1158T>A (p.Asp386Glu)
n.839T>A
c.*376T>A (n.*376T>A)
c.*499T>A (n.*499T>A)
c.1044T>A (p.Asp348Glu)
c.201T>A (p.Asp67Glu)
n.483T>A
c.951T>A (p.Asp317Glu)
c.1179T>A (p.Asp393Glu)
c.1086T>A (p.Asp362Glu)
Xg.19359524T>CCA515486420PDHA1c.1065T>C (p.Asp355=)
c.*736T>C (n.*736T>C)
c.1128T>C (p.Asp376=)
c.1158T>C (p.Asp386=)
n.839T>C
c.*376T>C (n.*376T>C)
c.*499T>C (n.*499T>C)
c.1044T>C (p.Asp348=)
c.201T>C (p.Asp67=)
n.483T>C
c.951T>C (p.Asp317=)
c.1179T>C (p.Asp393=)
c.1086T>C (p.Asp362=)
Xg.19359524T>GCA412396516PDHA1c.1065T>G (p.Asp355Glu)
c.*736T>G (n.*736T>G)
c.1128T>G (p.Asp376Glu)
c.1158T>G (p.Asp386Glu)
n.839T>G
c.*376T>G (n.*376T>G)
c.*499T>G (n.*499T>G)
c.1044T>G (p.Asp348Glu)
c.201T>G (p.Asp67Glu)
n.483T>G
c.951T>G (p.Asp317Glu)
c.1179T>G (p.Asp393Glu)
c.1086T>G (p.Asp362Glu)
Xg.19359525G>ACA10607080PDHA1c.1066G>A (p.Ala356Thr)
c.*737G>A (n.*737G>A)
c.1129G>A (p.Ala377Thr)
c.1159G>A (p.Ala387Thr)
n.840G>A
c.*377G>A (n.*377G>A)
c.*500G>A (n.*500G>A)
c.1045G>A (p.Ala349Thr)
c.202G>A (p.Ala68Thr)
n.484G>A
c.952G>A (p.Ala318Thr)
c.1180G>A (p.Ala394Thr)
c.1087G>A (p.Ala363Thr)
 ClinVar dbSNP
Xg.19359525G>CCA412396521PDHA1c.1066G>C (p.Ala356Pro)
c.*737G>C (n.*737G>C)
c.1129G>C (p.Ala377Pro)
c.1159G>C (p.Ala387Pro)
n.840G>C
c.*377G>C (n.*377G>C)
c.*500G>C (n.*500G>C)
c.1045G>C (p.Ala349Pro)
c.202G>C (p.Ala68Pro)
n.484G>C
c.952G>C (p.Ala318Pro)
c.1180G>C (p.Ala394Pro)
c.1087G>C (p.Ala363Pro)
Xg.19359525G=CA2418225574PDHA1c.1066G= (p.Ala356=)
c.*737G= (n.*737G=)
c.1129G= (p.Ala377=)
c.1159G= (p.Ala387=)
n.840G=
c.*377G= (n.*377G=)
c.*500G= (n.*500G=)
c.1045G= (p.Ala349=)
c.202G= (p.Ala68=)
n.484G=
c.952G= (p.Ala318=)
c.1180G= (p.Ala394=)
c.1087G= (p.Ala363=)
Xg.19359525G>TCA412396519PDHA1c.1066G>T (p.Ala356Ser)
c.*737G>T (n.*737G>T)
c.1129G>T (p.Ala377Ser)
c.1159G>T (p.Ala387Ser)
n.840G>T
c.*377G>T (n.*377G>T)
c.*500G>T (n.*500G>T)
c.1045G>T (p.Ala349Ser)
c.202G>T (p.Ala68Ser)
n.484G>T
c.952G>T (p.Ala318Ser)
c.1180G>T (p.Ala394Ser)
c.1087G>T (p.Ala363Ser)
Xg.19359526C>ACA412396527PDHA1c.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)
Xg.19359526C=CA2418225575PDHA1c.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=)
Xg.19359526C>GCA412396524PDHA1c.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)
Xg.19359526C>TCA412396526PDHA1c.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
Xg.19359527T>ACA515486421PDHA1c.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=)
Xg.19359527T>CCA515486422PDHA1c.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
Xg.19359527T>GCA515486423PDHA1c.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=)
Xg.19359527T=CA2418225576PDHA1c.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=)
Xg.19359528delCA2579566469PDHA1c.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?)
Xg.19359528G>ACA412396530PDHA1c.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)
Xg.19359528G>CCA412396531PDHA1c.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)
Xg.19359528G>TCA412396532PDHA1c.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)
Xg.19359529C>ACA412396535PDHA1c.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)
Xg.19359529C=CA2418225577PDHA1c.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=)
Xg.19359529C>GCA412396537PDHA1c.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)
Xg.19359529C>TCA412396538PDHA1c.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)
Xg.19359530_19359531delCA2579566470PDHA1c.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)
Xg.19359530C>ACA515486426PDHA1c.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=)
Xg.19359530C>GCA515486424PDHA1c.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=)
Xg.19359530C>TCA515486425PDHA1c.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
Xg.19359530_19359613dupCA658684284PDHA1c.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
Xg.19359531C>ACA412396542PDHA1c.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)
Xg.19359531C>GCA412396543PDHA1c.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)
Xg.19359531C>TCA412396544PDHA1c.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)
Xg.19359532A>CCA412396550PDHA1c.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)
Xg.19359532A>GCA412396549PDHA1c.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
Xg.19359532A>TCA412396547PDHA1c.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)
Xg.19359533G>ACA515486427PDHA1c.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
Xg.19359533G>CCA412396553PDHA1c.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)
Xg.19359533G>TCA412396555PDHA1c.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
Xg.19359534T>ACA412396558PDHA1c.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)
Xg.19359534T>CCA412396559PDHA1c.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)
Xg.19359534T>GCA412396561PDHA1c.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)
Xg.19359536delCA2579566471PDHA1c.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?)
Xg.19359535T>ACA412396563PDHA1c.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)
Xg.19359535T>CCA412396565PDHA1c.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)
Xg.19359535T>GCA412396567PDHA1c.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)
Xg.19359536T>ACA412396569PDHA1c.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)
Xg.19359536T>CCA515486428PDHA1c.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=)
Xg.19359536T>GCA412396571PDHA1c.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)
Xg.19359537G>ACA412396573PDHA1c.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)
Xg.19359537G>CCA412396575PDHA1c.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)
Xg.19359537G>TCA412396577PDHA1c.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)
Xg.19359538C>ACA412396582PDHA1c.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)
Xg.19359538C=CA2418225578PDHA1c.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=)
Xg.19359538C>GCA412396584PDHA1c.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)
Xg.19359538C>TCA412396579PDHA1c.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
Xg.19359539delCA2579566472PDHA1c.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?)
Xg.19359539C>ACA515486429PDHA1c.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
Xg.19359539C=CA2418225579PDHA1c.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=)
Xg.19359539C>GCA515486430PDHA1c.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=)
Xg.19359539C>TCA515486431PDHA1c.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
Xg.19359540A=CA2418225580PDHA1c.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=)
Xg.19359540A>CCA412396586PDHA1c.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
Xg.19359540A>GCA412396588PDHA1c.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
Xg.19359540A>TCA412396589PDHA1c.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)
Xg.19359541C>ACA412396591PDHA1c.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)
Xg.19359541C=CA2418225581PDHA1c.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=)
Xg.19359541C>GCA412396593PDHA1c.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)
Xg.19359541C>TCA10363204PDHA1c.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
Xg.19359542G>ACA10363206PDHA1c.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
Xg.19359542G>CCA515486432PDHA1c.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
Xg.19359542G=CA2418225582PDHA1c.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=)
Xg.19359542G>TCA10363205PDHA1c.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
Xg.19359543G>ACA412396598PDHA1c.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
Xg.19359543G>CCA412396600PDHA1c.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)
Xg.19359543G=CA2418225583PDHA1c.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=)
Xg.19359543G>TCA327031144PDHA1c.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
Xg.19359543_19359548delCA2695231669PDHA1c.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)
Xg.19359544C>ACA412396604PDHA1c.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)
Xg.19359544C>GCA412396606PDHA1c.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)
Xg.19359544C>TCA412396608PDHA1c.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)
Xg.19359545C>ACA515486433PDHA1c.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
Xg.19359545C=CA2418225584PDHA1c.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=)
Xg.19359545C>GCA515486434PDHA1c.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=)
Xg.19359545C>TCA10363207PDHA1c.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
Xg.19359546G>ACA10363208PDHA1c.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
Xg.19359546G>CCA412396616PDHA1c.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)
Xg.19359546G=CA2418225585PDHA1c.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=)
Xg.19359546G>TCA412396613PDHA1c.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)
Xg.19359546_19359554dupCA2499226555PDHA1c.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
Xg.19359547A>CCA412396618PDHA1c.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)
Xg.19359547A>GCA412396620PDHA1c.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)
Xg.19359547A>TCA412396622PDHA1c.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)
Xg.19359548T>ACA412396625PDHA1c.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)
Xg.19359548T>CCA10363209PDHA1c.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
Xg.19359548T>GCA412396628PDHA1c.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)
Xg.19359548T=CA2418225586PDHA1c.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=)
Xg.19359549C>ACA412396630PDHA1c.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)
Xg.19359549C>GCA412396633PDHA1c.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
Xg.19359549C>TCA412396635PDHA1c.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)
Xg.19359549_19359569delinsCCTGAGCCACCTTTGGAAGAGCA2418225587PDHA1c.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=)
Xg.19359550C>ACA412396638PDHA1c.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)
Xg.19359550C>GCA412396639PDHA1c.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)
Xg.19359550C>TCA412396642PDHA1c.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)
Xg.19359553_19359572delCA121210PDHA1c.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
Xg.19359551T>ACA515486435PDHA1c.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=)
Xg.19359551T>CCA515486436PDHA1c.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
Xg.19359551T>GCA515486437PDHA1c.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=)
Xg.19359551_19359568dupCA2695231670PDHA1c.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)
Xg.19359552G>ACA412396646PDHA1c.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
Xg.19359552G>CCA412396650PDHA1c.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)
Xg.19359552G>TCA412396648PDHA1c.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)
Xg.19359553A=CA2418225588PDHA1c.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=)
Xg.19359553A>CCA412396652PDHA1c.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)
Xg.19359553A>GCA412396654PDHA1c.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)
Xg.19359553A>TCA412396656PDHA1c.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)
Xg.19359554G>ACA515486438PDHA1c.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=)
Xg.19359554G>CCA412396664PDHA1c.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)
Xg.19359554G>TCA412396660PDHA1c.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)
Xg.19359554_19359589dupCA121224PDHA1c.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
Xg.19359555C>ACA412396669PDHA1c.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)
Xg.19359555C>GCA412396675PDHA1c.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)
Xg.19359555C>TCA412396672PDHA1c.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)
Xg.19359556C>ACA412396678PDHA1c.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)
Xg.19359556C>GCA412396684PDHA1c.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)
Xg.19359556C>TCA412396681PDHA1c.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)
Xg.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCTCA2418225589PDHA1c.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=)
Xg.19359557A>CCA515486439PDHA1c.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=)
Xg.19359557A>GCA515486440PDHA1c.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
Xg.19359557A>TCA515486441PDHA1c.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=)
Xg.19359560_19359579delCA1139667332PDHA1c.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
Xg.19359558C>ACA412396689PDHA1c.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)
Xg.19359558C>GCA412396694PDHA1c.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)
Xg.19359558C>TCA412396692PDHA1c.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)
Xg.19359559C>ACA412396697PDHA1c.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)
Xg.19359559C>GCA412396700PDHA1c.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)
Xg.19359559C>TCA412396704PDHA1c.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)
Xg.19359560T>ACA515486442PDHA1c.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=)
Xg.19359560T>CCA515486443PDHA1c.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=)
Xg.19359560T>GCA515486444PDHA1c.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=)
Xg.19359561T>ACA412396713PDHA1c.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)
Xg.19359561T>CCA515486445PDHA1c.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=)
Xg.19359561T>GCA412396714PDHA1c.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)
Xg.19359562T>ACA412396719PDHA1c.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)
Xg.19359562T>CCA412396721PDHA1c.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)
Xg.19359562T>GCA412396722PDHA1c.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)
Xg.19359563G>ACA10363210PDHA1c.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
Xg.19359563G>CCA412396728PDHA1c.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)
Xg.19359563G=CA2418225590PDHA1c.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=)
Xg.19359563G>TCA412396732PDHA1c.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)
Xg.19359563_19359582dupCA2695231671PDHA1c.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?)
Xg.19359564G>ACA412396741PDHA1c.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)
Xg.19359564G>CCA412396735PDHA1c.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
Xg.19359564G=CA2418225591PDHA1c.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=)
Xg.19359564G>TCA412396738PDHA1c.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)
Xg.19359565A>CCA412396746PDHA1c.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)
Xg.19359565A>GCA412396748PDHA1c.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)
Xg.19359565A>TCA412396752PDHA1c.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)
Xg.19359566A>CCA412396753PDHA1c.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)
Xg.19359566A>GCA515486446PDHA1c.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=)
Xg.19359566A>TCA412396756PDHA1c.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)
Xg.19359567G>ACA412396760PDHA1c.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)
Xg.19359567G>CCA412396762PDHA1c.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)
Xg.19359567G>TCA412396765PDHA1c.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)
Xg.19359568A>CCA412396769PDHA1c.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)
Xg.19359568A>GCA412396773PDHA1c.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)
Xg.19359568A>TCA412396776PDHA1c.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)
Xg.19359569G>ACA515486447PDHA1c.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=)
Xg.19359569G>CCA412396783PDHA1c.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
Xg.19359569G=CA2418225592PDHA1c.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=)
Xg.19359569G>TCA412396780PDHA1c.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)
Xg.19359570C>ACA412396786PDHA1c.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)
Xg.19359570C>GCA412396800PDHA1c.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)
Xg.19359570C>TCA515486448PDHA1c.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=)
Xg.19359571T>ACA412396804PDHA1c.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)
Xg.19359571T>CCA412396807PDHA1c.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)
Xg.19359571T>GCA412396809PDHA1c.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
Xg.19359572G>ACA515486451PDHA1c.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
Xg.19359572G>CCA515486449PDHA1c.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=)
Xg.19359572G=CA2418225593PDHA1c.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=)
Xg.19359572G>TCA515486450PDHA1c.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=)
Xg.19359572_19359573insAAGAGCTGGCA2695231672PDHA1c.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)
Xg.19359573G>ACA412396823PDHA1c.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)
Xg.19359573G>CCA412396819PDHA1c.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)
Xg.19359573G>TCA412396815PDHA1c.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)
Xg.19359574G>ACA412396827PDHA1c.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)
Xg.19359574G>CCA412396830PDHA1c.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
Xg.19359574G>TCA412396831PDHA1c.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)
Xg.19359575C>ACA515486452PDHA1c.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=)
Xg.19359575C>GCA515486453PDHA1c.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=)
Xg.19359575C>TCA515486454PDHA1c.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=)
Xg.19359576T>ACA412396832PDHA1c.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)
Xg.19359576T>CCA412396834PDHA1c.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)
Xg.19359576T>GCA412396835PDHA1c.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)
Xg.19359577A>CCA412396837PDHA1c.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)
Xg.19359577A>GCA412396843PDHA1c.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)
Xg.19359577A>TCA412396839PDHA1c.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)
Xg.19359578C>ACA412396847PDHA1c.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
Xg.19359578C=CA2418225594PDHA1c.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=)
Xg.19359578C>GCA412396849PDHA1c.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)
Xg.19359578C>TCA515486455PDHA1c.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=)
Xg.19359579delCA2527477704PDHA1c.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?)
Xg.19359579C>ACA412396852PDHA1c.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
Xg.19359579C=CA2418225595PDHA1c.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=)
Xg.19359579C>GCA412396853PDHA1c.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)
Xg.19359579C>TCA412396858PDHA1c.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
Xg.19359580A=CA2418225596PDHA1c.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=)
Xg.19359580A>CCA412396862PDHA1c.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
Xg.19359580A>GCA412396866PDHA1c.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)
Xg.19359580A>TCA412396868PDHA1c.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
Xg.19359581C>ACA412396872PDHA1c.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)
Xg.19359581C>GCA412396874PDHA1c.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)
Xg.19359581C>TCA515486456PDHA1c.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
Xg.19359582A=CA2418225597PDHA1c.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=)
Xg.19359582A>CCA10363211PDHA1c.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
Xg.19359582A>GCA412396882PDHA1c.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
Xg.19359582A>TCA412396879PDHA1c.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)
Xg.19359583T>ACA412396890PDHA1c.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)
Xg.19359583T>CCA412396895PDHA1c.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)
Xg.19359583T>GCA412396892PDHA1c.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)
Xg.19359583_19359588dupCA2580100440PDHA1c.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
Xg.19359584C>ACA515486457PDHA1c.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=)
Xg.19359584C>GCA412396898PDHA1c.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)
Xg.19359584C>TCA515486458PDHA1c.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=)
Xg.19359585T>ACA412396903PDHA1c.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)
Xg.19359585T>CCA412396907PDHA1c.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)
Xg.19359585T>GCA412396910PDHA1c.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)
Xg.19359585_19359587delinsCAACA2695231673PDHA1c.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)
Xg.19359586A>CCA412396914PDHA1c.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)
Xg.19359586A>GCA412396916PDHA1c.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)
Xg.19359586A>TCA412396919PDHA1c.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)
Xg.19359587C>ACA412396923PDHA1c.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)
Xg.19359587C=CA2418225598PDHA1c.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=)
Xg.19359587C>GCA412396929PDHA1c.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)
Xg.19359587C>TCA515486459PDHA1c.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
Xg.19359589_19359602delCA2580100441PDHA1c.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
Xg.19359588T>ACA412396934PDHA1c.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)
Xg.19359588T>CCA412396937PDHA1c.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)
Xg.19359588T>GCA412396940PDHA1c.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)
Xg.19359589C>ACA412396944PDHA1c.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)
Xg.19359589C>GCA412396950PDHA1c.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)
Xg.19359589C>TCA412396947PDHA1c.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)
Xg.19359589_19359590delinsTTCA645608006PDHA1c.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
Xg.19359590C>ACA10363212PDHA1c.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
Xg.19359590C=CA2418225599PDHA1c.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=)
Xg.19359590C>GCA515486460PDHA1c.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=)
Xg.19359590C>TCA515486461PDHA1c.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=)
Xg.19359591A>CCA412396958PDHA1c.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)
Xg.19359591A>GCA412396962PDHA1c.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)
Xg.19359591A>TCA412396966PDHA1c.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)
Xg.19359592G>ACA412396971PDHA1c.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)
Xg.19359592G>CCA412396972PDHA1c.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
Xg.19359592G=CA2418225600PDHA1c.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=)
Xg.19359592G>TCA412396976PDHA1c.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)
Xg.19359593C>ACA412396978PDHA1c.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
Xg.19359593C=CA2418225601PDHA1c.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=)
Xg.19359593C>GCA412396981PDHA1c.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)
Xg.19359593C>TCA10363213PDHA1c.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
Xg.19359593_19359594insACATCTACTCCACCA2695231674PDHA1c.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)
Xg.19359594G>ACA10363214PDHA1c.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
Xg.19359594G>CCA412396993PDHA1c.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)
Xg.19359594G=CA2418225602PDHA1c.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=)
Xg.19359594G>TCA412396987PDHA1c.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)
Xg.19359595A>CCA412396997PDHA1c.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)
Xg.19359595A>GCA412396999PDHA1c.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
Xg.19359595A>TCA412397001PDHA1c.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)
Xg.19359596C>ACA412397004PDHA1c.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
Xg.19359596C>GCA412397006PDHA1c.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)
Xg.19359596C>TCA515486462PDHA1c.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
Xg.19359596_19359608delinsCCCACCTTTTGAACA2418225603PDHA1c.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=)
Xg.19359597C>ACA412397014PDHA1c.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)
Xg.19359597C=CA2418225604PDHA1c.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=)
Xg.19359597C>GCA412397011PDHA1c.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)
Xg.19359597C>TCA10363215PDHA1c.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
Xg.19359597_19359608delCA915950758PDHA1c.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
Xg.19359598C>ACA412397017PDHA1c.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)
Xg.19359598C=CA2418225605PDHA1c.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=)
Xg.19359598C>GCA412397019PDHA1c.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)
Xg.19359598C>TCA10363216PDHA1c.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
Xg.19359599A>CCA515486465PDHA1c.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=)
Xg.19359599A>GCA515486463PDHA1c.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=)
Xg.19359599A>TCA515486464PDHA1c.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=)

Number of alleles fetched