Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19358904_19358952dupCA2739268099PDHA1c.921-12_957dup
c.*592-12_*628dup
c.984-12_1020dup
c.1014-12_1050dup
n.695-12_731dup
c.*232-12_*268dup
c.*355-12_*391dup
c.900-12_936dup
c.57-12_93dup
n.339-12_375dup
n.328-12_364dup
c.807-12_843dup
c.1035-12_1071dup
c.942-12_978dup
Xg.19358937_19358952dupCA2695231652PDHA1c.942_957dup (p.Lys320SerfsTer6)
c.*613_*628dup (n.*613_*628dup)
c.1005_1020dup (p.Lys341SerfsTer6)
c.1035_1050dup (p.Lys351SerfsTer6)
n.716_731dup
c.*253_*268dup (n.*253_*268dup)
c.*376_*391dup (n.*376_*391dup)
c.921_936dup (p.Lys313SerfsTer6)
c.78_93dup (p.Lys32SerfsTer6)
n.360_375dup
n.349_364dup
c.828_843dup (p.Lys282SerfsTer6)
c.1056_1071dup (p.Lys358SerfsTer6)
c.963_978dup (p.Lys327SerfsTer6)
Xg.19358950_19358956dupCA2580615401PDHA1c.955_961dup (p.Ser321LysfsTer2)
c.*626_*632dup (n.*626_*632dup)
c.1018_1024dup (p.Ser342LysfsTer2)
c.1048_1054dup (p.Ser352LysfsTer2)
n.729_735dup
c.*266_*272dup (n.*266_*272dup)
c.*389_*395dup (n.*389_*395dup)
c.934_940dup (p.Ser314LysfsTer2)
c.91_97dup (p.Ser33LysfsTer2)
n.373_379dup
n.362_368dup
c.841_847dup (p.Ser283LysfsTer2)
c.1069_1075dup (p.Ser359LysfsTer2)
c.976_982dup (p.Ser328LysfsTer2)
dbSNP
Xg.19358950_19358956delCA121204PDHA1c.955_961del (p.Ser319ValfsTer12)
c.*626_*632del (n.*626_*632del)
c.1018_1024del (p.Ser340ValfsTer12)
c.1048_1054del (p.Ser350ValfsTer12)
n.729_735del
c.*266_*272del (n.*266_*272del)
c.*389_*395del (n.*389_*395del)
c.934_940del (p.Ser312ValfsTer12)
c.91_97del (p.Ser31ValfsTer12)
n.373_379del
n.362_368del
c.841_847del (p.Ser281ValfsTer12)
c.1069_1075del (p.Ser357ValfsTer12)
c.976_982del (p.Ser326ValfsTer12)
dbSNP gnomAD v4
Xg.19358949_19358951dupCA2580615402PDHA1c.954_956dup (p.Arg318_Ser319insArg)
c.*625_*627dup (n.*625_*627dup)
c.1017_1019dup (p.Arg339_Ser340insArg)
c.1047_1049dup (p.Arg349_Ser350insArg)
n.728_730dup
c.*265_*267dup (n.*265_*267dup)
c.*388_*390dup (n.*388_*390dup)
c.933_935dup (p.Arg311_Ser312insArg)
c.90_92dup (p.Arg30_Ser31insArg)
n.372_374dup
n.361_363dup
c.840_842dup (p.Arg280_Ser281insArg)
c.1068_1070dup (p.Arg356_Ser357insArg)
c.975_977dup (p.Arg325_Ser326insArg)
Xg.19358949_19358951delCA658684283PDHA1c.954_956del (p.Arg318del)
c.*625_*627del (n.*625_*627del)
c.1017_1019del (p.Arg339del)
c.1047_1049del (p.Arg349del)
n.728_730del
c.*265_*267del (n.*265_*267del)
c.*388_*390del (n.*388_*390del)
c.933_935del (p.Arg311del)
c.90_92del (p.Arg30del)
n.372_374del
n.361_363del
c.840_842del (p.Arg280del)
c.1068_1070del (p.Arg356del)
c.975_977del (p.Arg325del)
dbSNP
Xg.19358948_19358952delinsGAAGTCA2418225231PDHA1c.953_957delinsGAAGT (p.Arg318=)
c.*624_*628delinsGAAGT (n.*624_*628delinsGAAGT)
c.1016_1020delinsGAAGT (p.Arg339=)
c.1046_1050delinsGAAGT (p.Arg349=)
n.727_731delinsGAAGT
c.*264_*268delinsGAAGT (n.*264_*268delinsGAAGT)
c.*387_*391delinsGAAGT (n.*387_*391delinsGAAGT)
c.932_936delinsGAAGT (p.Arg311=)
c.89_93delinsGAAGT (p.Arg30=)
n.371_375delinsGAAGT
n.360_364delinsGAAGT
c.839_843delinsGAAGT (p.Arg280=)
c.1067_1071delinsGAAGT (p.Arg356=)
c.974_978delinsGAAGT (p.Arg325=)
Xg.19358949A=CA2418225232PDHA1c.954A= (p.Arg318=)
c.*625A= (n.*625A=)
c.1017A= (p.Arg339=)
c.1047A= (p.Arg349=)
n.728A=
c.*265A= (n.*265A=)
c.*388A= (n.*388A=)
c.933A= (p.Arg311=)
c.90A= (p.Arg30=)
n.372A=
n.361A=
c.840A= (p.Arg280=)
c.1068A= (p.Arg356=)
c.975A= (p.Arg325=)
Xg.19358949A>CCA412396129PDHA1c.954A>C (p.Arg318Ser)
c.*625A>C (n.*625A>C)
c.1017A>C (p.Arg339Ser)
c.1047A>C (p.Arg349Ser)
n.728A>C
c.*265A>C (n.*265A>C)
c.*388A>C (n.*388A>C)
c.933A>C (p.Arg311Ser)
c.90A>C (p.Arg30Ser)
n.372A>C
n.361A>C
c.840A>C (p.Arg280Ser)
c.1068A>C (p.Arg356Ser)
c.975A>C (p.Arg325Ser)
Xg.19358949A>GCA515486317PDHA1c.954A>G (p.Arg318=)
c.*625A>G (n.*625A>G)
c.1017A>G (p.Arg339=)
c.1047A>G (p.Arg349=)
n.728A>G
c.*265A>G (n.*265A>G)
c.*388A>G (n.*388A>G)
c.933A>G (p.Arg311=)
c.90A>G (p.Arg30=)
n.372A>G
n.361A>G
c.840A>G (p.Arg280=)
c.1068A>G (p.Arg356=)
c.975A>G (p.Arg325=)
gnomAD v4
Xg.19358949A>TCA412396128PDHA1c.954A>T (p.Arg318Ser)
c.*625A>T (n.*625A>T)
c.1017A>T (p.Arg339Ser)
c.1047A>T (p.Arg349Ser)
n.728A>T
c.*265A>T (n.*265A>T)
c.*388A>T (n.*388A>T)
c.933A>T (p.Arg311Ser)
c.90A>T (p.Arg30Ser)
n.372A>T
n.361A>T
c.840A>T (p.Arg280Ser)
c.1068A>T (p.Arg356Ser)
c.975A>T (p.Arg325Ser)
Xg.19358952_19358955delCA323384PDHA1c.957_960del (p.Ser319ArgfsTer13)
c.*628_*631del (n.*628_*631del)
c.1020_1023del (p.Ser340ArgfsTer13)
c.1050_1053del (p.Ser350ArgfsTer13)
n.731_734del
c.*268_*271del (n.*268_*271del)
c.*391_*394del (n.*391_*394del)
c.936_939del (p.Ser312ArgfsTer13)
c.93_96del (p.Ser31ArgfsTer13)
n.375_378del
n.364_367del
c.843_846del (p.Ser281ArgfsTer13)
c.1071_1074del (p.Ser357ArgfsTer13)
c.978_981del (p.Ser326ArgfsTer13)
ClinVar dbSNP
Xg.19358950A>CCA412396131PDHA1c.955A>C (p.Ser319Arg)
c.*626A>C (n.*626A>C)
c.1018A>C (p.Ser340Arg)
c.1048A>C (p.Ser350Arg)
n.729A>C
c.*266A>C (n.*266A>C)
c.*389A>C (n.*389A>C)
c.934A>C (p.Ser312Arg)
c.91A>C (p.Ser31Arg)
n.373A>C
n.362A>C
c.841A>C (p.Ser281Arg)
c.1069A>C (p.Ser357Arg)
c.976A>C (p.Ser326Arg)
Xg.19358950A>GCA412396132PDHA1c.955A>G (p.Ser319Gly)
c.*626A>G (n.*626A>G)
c.1018A>G (p.Ser340Gly)
c.1048A>G (p.Ser350Gly)
n.729A>G
c.*266A>G (n.*266A>G)
c.*389A>G (n.*389A>G)
c.934A>G (p.Ser312Gly)
c.91A>G (p.Ser31Gly)
n.373A>G
n.362A>G
c.841A>G (p.Ser281Gly)
c.1069A>G (p.Ser357Gly)
c.976A>G (p.Ser326Gly)
gnomAD v4
Xg.19358950A>TCA412396130PDHA1c.955A>T (p.Ser319Cys)
c.*626A>T (n.*626A>T)
c.1018A>T (p.Ser340Cys)
c.1048A>T (p.Ser350Cys)
n.729A>T
c.*266A>T (n.*266A>T)
c.*389A>T (n.*389A>T)
c.934A>T (p.Ser312Cys)
c.91A>T (p.Ser31Cys)
n.373A>T
n.362A>T
c.841A>T (p.Ser281Cys)
c.1069A>T (p.Ser357Cys)
c.976A>T (p.Ser326Cys)
Xg.19358953_19358958dupCA2695231655PDHA1c.958_963dup (p.Ser321_Asp322insLysSer)
c.*629_*634dup (n.*629_*634dup)
c.1021_1026dup (p.Ser342_Asp343insLysSer)
c.1051_1056dup (p.Ser352_Asp353insLysSer)
n.732_737dup
c.*269_*274dup (n.*269_*274dup)
c.*392_*397dup (n.*392_*397dup)
c.937_942dup (p.Ser314_Asp315insLysSer)
c.94_99dup (p.Ser33_Asp34insLysSer)
n.376_381dup
n.365_370dup
c.844_849dup (p.Ser283_Asp284insLysSer)
c.1072_1077dup (p.Ser359_Asp360insLysSer)
c.979_984dup (p.Ser328_Asp329insLysSer)
Xg.19358950_19359008dupCA915950757PDHA1c.955_1013dup (p.Ser338ArgfsTer15)
c.*626_*684dup (n.*626_*684dup)
c.1018_1076dup (p.Ser359ArgfsTer15)
c.1048_1106dup (p.Ser369ArgfsTer15)
n.729_787dup
c.*266_*324dup (n.*266_*324dup)
c.*389_*447dup (n.*389_*447dup)
c.934_992dup (p.Ser331ArgfsTer15)
c.91_149dup (p.Ser50ArgfsTer15)
n.373_431dup
n.362_420dup
c.841_899dup (p.Ser300ArgfsTer15)
c.1069_1127dup (p.Ser376ArgfsTer15)
c.976_1034dup (p.Ser345ArgfsTer15)
ClinVar dbSNP
Xg.19358951G>ACA412396133PDHA1c.956G>A (p.Ser319Asn)
c.*627G>A (n.*627G>A)
c.1019G>A (p.Ser340Asn)
c.1049G>A (p.Ser350Asn)
n.730G>A
c.*267G>A (n.*267G>A)
c.*390G>A (n.*390G>A)
c.935G>A (p.Ser312Asn)
c.92G>A (p.Ser31Asn)
n.374G>A
n.363G>A
c.842G>A (p.Ser281Asn)
c.1070G>A (p.Ser357Asn)
c.977G>A (p.Ser326Asn)
gnomAD v4
Xg.19358951G>CCA412396134PDHA1c.956G>C (p.Ser319Thr)
c.*627G>C (n.*627G>C)
c.1019G>C (p.Ser340Thr)
c.1049G>C (p.Ser350Thr)
n.730G>C
c.*267G>C (n.*267G>C)
c.*390G>C (n.*390G>C)
c.935G>C (p.Ser312Thr)
c.92G>C (p.Ser31Thr)
n.374G>C
n.363G>C
c.842G>C (p.Ser281Thr)
c.1070G>C (p.Ser357Thr)
c.977G>C (p.Ser326Thr)
Xg.19358951G>TCA412396135PDHA1c.956G>T (p.Ser319Ile)
c.*627G>T (n.*627G>T)
c.1019G>T (p.Ser340Ile)
c.1049G>T (p.Ser350Ile)
n.730G>T
c.*267G>T (n.*267G>T)
c.*390G>T (n.*390G>T)
c.935G>T (p.Ser312Ile)
c.92G>T (p.Ser31Ile)
n.374G>T
n.363G>T
c.842G>T (p.Ser281Ile)
c.1070G>T (p.Ser357Ile)
c.977G>T (p.Ser326Ile)
Xg.19358952T>ACA412396136PDHA1c.957T>A (p.Ser319Arg)
c.*628T>A (n.*628T>A)
c.1020T>A (p.Ser340Arg)
c.1050T>A (p.Ser350Arg)
n.731T>A
c.*268T>A (n.*268T>A)
c.*391T>A (n.*391T>A)
c.936T>A (p.Ser312Arg)
c.93T>A (p.Ser31Arg)
n.375T>A
n.364T>A
c.843T>A (p.Ser281Arg)
c.1071T>A (p.Ser357Arg)
c.978T>A (p.Ser326Arg)
gnomAD v4
Xg.19358952T>CCA515486319PDHA1c.957T>C (p.Ser319=)
c.*628T>C (n.*628T>C)
c.1020T>C (p.Ser340=)
c.1050T>C (p.Ser350=)
n.731T>C
c.*268T>C (n.*268T>C)
c.*391T>C (n.*391T>C)
c.936T>C (p.Ser312=)
c.93T>C (p.Ser31=)
n.375T>C
n.364T>C
c.843T>C (p.Ser281=)
c.1071T>C (p.Ser357=)
c.978T>C (p.Ser326=)
Xg.19358952T>GCA412396137PDHA1c.957T>G (p.Ser319Arg)
c.*628T>G (n.*628T>G)
c.1020T>G (p.Ser340Arg)
c.1050T>G (p.Ser350Arg)
n.731T>G
c.*268T>G (n.*268T>G)
c.*391T>G (n.*391T>G)
c.936T>G (p.Ser312Arg)
c.93T>G (p.Ser31Arg)
n.375T>G
n.364T>G
c.843T>G (p.Ser281Arg)
c.1071T>G (p.Ser357Arg)
c.978T>G (p.Ser326Arg)
Xg.19358952_19358955delinsTAAGCA2418225233PDHA1c.957_960delinsTAAG (p.Ser319=)
c.*628_*631delinsTAAG (n.*628_*631delinsTAAG)
c.1020_1023delinsTAAG (p.Ser340=)
c.1050_1053delinsTAAG (p.Ser350=)
n.731_734delinsTAAG
c.*268_*271delinsTAAG (n.*268_*271delinsTAAG)
c.*391_*394delinsTAAG (n.*391_*394delinsTAAG)
c.936_939delinsTAAG (p.Ser312=)
c.93_96delinsTAAG (p.Ser31=)
n.375_378delinsTAAG
n.364_367delinsTAAG
c.843_846delinsTAAG (p.Ser281=)
c.1071_1074delinsTAAG (p.Ser357=)
c.978_981delinsTAAG (p.Ser326=)
Xg.19358953A>CCA412396138PDHA1c.958A>C (p.Lys320Gln)
c.*629A>C (n.*629A>C)
c.1021A>C (p.Lys341Gln)
c.1051A>C (p.Lys351Gln)
n.732A>C
c.*269A>C (n.*269A>C)
c.*392A>C (n.*392A>C)
c.937A>C (p.Lys313Gln)
c.94A>C (p.Lys32Gln)
n.376A>C
n.365A>C
c.844A>C (p.Lys282Gln)
c.1072A>C (p.Lys358Gln)
c.979A>C (p.Lys327Gln)
Xg.19358953A>GCA412396139PDHA1c.958A>G (p.Lys320Glu)
c.*629A>G (n.*629A>G)
c.1021A>G (p.Lys341Glu)
c.1051A>G (p.Lys351Glu)
n.732A>G
c.*269A>G (n.*269A>G)
c.*392A>G (n.*392A>G)
c.937A>G (p.Lys313Glu)
c.94A>G (p.Lys32Glu)
n.376A>G
n.365A>G
c.844A>G (p.Lys282Glu)
c.1072A>G (p.Lys358Glu)
c.979A>G (p.Lys327Glu)
Xg.19358953A>TCA412396140PDHA1c.958A>T (p.Lys320Ter)
c.*629A>T (n.*629A>T)
c.1021A>T (p.Lys341Ter)
c.1051A>T (p.Lys351Ter)
n.732A>T
c.*269A>T (n.*269A>T)
c.*392A>T (n.*392A>T)
c.937A>T (p.Lys313Ter)
c.94A>T (p.Lys32Ter)
n.376A>T
n.365A>T
c.844A>T (p.Lys282Ter)
c.1072A>T (p.Lys358Ter)
c.979A>T (p.Lys327Ter)
Xg.19358954delCA2579566420PDHA1c.959del (p.Lys320ArgfsTer13)
c.*630del (n.*630del)
c.1022del (p.Lys341ArgfsTer13)
c.1052del (p.Lys351ArgfsTer13)
n.733del
c.*270del (n.*270del)
c.*393del (n.*393del)
c.938del (p.Lys313ArgfsTer13)
c.95del (p.Lys32ArgfsTer13)
n.377del
n.366del
c.845del (p.Lys282ArgfsTer13)
c.1073del (p.Lys358ArgfsTer13)
c.980del (p.Lys327ArgfsTer13)
Xg.19358953_19358956dupCA320449PDHA1c.958_961dup (p.Ser321LysfsTer3)
c.*629_*632dup (n.*629_*632dup)
c.1021_1024dup (p.Ser342LysfsTer3)
c.1051_1054dup (p.Ser352LysfsTer3)
n.732_735dup
c.*269_*272dup (n.*269_*272dup)
c.*392_*395dup (n.*392_*395dup)
c.937_940dup (p.Ser314LysfsTer3)
c.94_97dup (p.Ser33LysfsTer3)
n.376_379dup
n.365_368dup
c.844_847dup (p.Ser283LysfsTer3)
c.1072_1075dup (p.Ser359LysfsTer3)
c.979_982dup (p.Ser328LysfsTer3)
ClinVar dbSNP
Xg.19358954_19358956delCA121206PDHA1c.959_961del (p.Lys320del)
c.*630_*632del (n.*630_*632del)
c.1022_1024del (p.Lys341del)
c.1052_1054del (p.Lys351del)
n.733_735del
c.*270_*272del (n.*270_*272del)
c.*393_*395del (n.*393_*395del)
c.938_940del (p.Lys313del)
c.95_97del (p.Lys32del)
n.377_379del
n.366_368del
c.845_847del (p.Lys282del)
c.1073_1075del (p.Lys358del)
c.980_982del (p.Lys327del)
ClinVar dbSNP
Xg.19358954A>CCA412396143PDHA1c.959A>C (p.Lys320Thr)
c.*630A>C (n.*630A>C)
c.1022A>C (p.Lys341Thr)
c.1052A>C (p.Lys351Thr)
n.733A>C
c.*270A>C (n.*270A>C)
c.*393A>C (n.*393A>C)
c.938A>C (p.Lys313Thr)
c.95A>C (p.Lys32Thr)
n.377A>C
n.366A>C
c.845A>C (p.Lys282Thr)
c.1073A>C (p.Lys358Thr)
c.980A>C (p.Lys327Thr)
Xg.19358954A>GCA412396141PDHA1c.959A>G (p.Lys320Arg)
c.*630A>G (n.*630A>G)
c.1022A>G (p.Lys341Arg)
c.1052A>G (p.Lys351Arg)
n.733A>G
c.*270A>G (n.*270A>G)
c.*393A>G (n.*393A>G)
c.938A>G (p.Lys313Arg)
c.95A>G (p.Lys32Arg)
n.377A>G
n.366A>G
c.845A>G (p.Lys282Arg)
c.1073A>G (p.Lys358Arg)
c.980A>G (p.Lys327Arg)
Xg.19358954A>TCA412396142PDHA1c.959A>T (p.Lys320Met)
c.*630A>T (n.*630A>T)
c.1022A>T (p.Lys341Met)
c.1052A>T (p.Lys351Met)
n.733A>T
c.*270A>T (n.*270A>T)
c.*393A>T (n.*393A>T)
c.938A>T (p.Lys313Met)
c.95A>T (p.Lys32Met)
n.377A>T
n.366A>T
c.845A>T (p.Lys282Met)
c.1073A>T (p.Lys358Met)
c.980A>T (p.Lys327Met)
Xg.19358955G>ACA327030570PDHA1c.960G>A (p.Lys320=)
c.*631G>A (n.*631G>A)
c.1023G>A (p.Lys341=)
c.1053G>A (p.Lys351=)
n.734G>A
c.*271G>A (n.*271G>A)
c.*394G>A (n.*394G>A)
c.939G>A (p.Lys313=)
c.96G>A (p.Lys32=)
n.378G>A
n.367G>A
c.846G>A (p.Lys282=)
c.1074G>A (p.Lys358=)
c.981G>A (p.Lys327=)
dbSNP gnomAD v4
Xg.19358955G>CCA412396144PDHA1c.960G>C (p.Lys320Asn)
c.*631G>C (n.*631G>C)
c.1023G>C (p.Lys341Asn)
c.1053G>C (p.Lys351Asn)
n.734G>C
c.*271G>C (n.*271G>C)
c.*394G>C (n.*394G>C)
c.939G>C (p.Lys313Asn)
c.96G>C (p.Lys32Asn)
n.378G>C
n.367G>C
c.846G>C (p.Lys282Asn)
c.1074G>C (p.Lys358Asn)
c.981G>C (p.Lys327Asn)
Xg.19358955G=CA2418225234PDHA1c.960G= (p.Lys320=)
c.*631G= (n.*631G=)
c.1023G= (p.Lys341=)
c.1053G= (p.Lys351=)
n.734G=
c.*271G= (n.*271G=)
c.*394G= (n.*394G=)
c.939G= (p.Lys313=)
c.96G= (p.Lys32=)
n.378G=
n.367G=
c.846G= (p.Lys282=)
c.1074G= (p.Lys358=)
c.981G= (p.Lys327=)
Xg.19358955G>TCA412396145PDHA1c.960G>T (p.Lys320Asn)
c.*631G>T (n.*631G>T)
c.1023G>T (p.Lys341Asn)
c.1053G>T (p.Lys351Asn)
n.734G>T
c.*271G>T (n.*271G>T)
c.*394G>T (n.*394G>T)
c.939G>T (p.Lys313Asn)
c.96G>T (p.Lys32Asn)
n.378G>T
n.367G>T
c.846G>T (p.Lys282Asn)
c.1074G>T (p.Lys358Asn)
c.981G>T (p.Lys327Asn)
Xg.19358956A>CCA412396146PDHA1c.961A>C (p.Ser321Arg)
c.*632A>C (n.*632A>C)
c.1024A>C (p.Ser342Arg)
c.1054A>C (p.Ser352Arg)
n.735A>C
c.*272A>C (n.*272A>C)
c.*395A>C (n.*395A>C)
c.940A>C (p.Ser314Arg)
c.97A>C (p.Ser33Arg)
n.379A>C
n.368A>C
c.847A>C (p.Ser283Arg)
c.1075A>C (p.Ser359Arg)
c.982A>C (p.Ser328Arg)
Xg.19358956A>GCA412396147PDHA1c.961A>G (p.Ser321Gly)
c.*632A>G (n.*632A>G)
c.1024A>G (p.Ser342Gly)
c.1054A>G (p.Ser352Gly)
n.735A>G
c.*272A>G (n.*272A>G)
c.*395A>G (n.*395A>G)
c.940A>G (p.Ser314Gly)
c.97A>G (p.Ser33Gly)
n.379A>G
n.368A>G
c.847A>G (p.Ser283Gly)
c.1075A>G (p.Ser359Gly)
c.982A>G (p.Ser328Gly)
gnomAD v4
Xg.19358956A>TCA412396148PDHA1c.961A>T (p.Ser321Cys)
c.*632A>T (n.*632A>T)
c.1024A>T (p.Ser342Cys)
c.1054A>T (p.Ser352Cys)
n.735A>T
c.*272A>T (n.*272A>T)
c.*395A>T (n.*395A>T)
c.940A>T (p.Ser314Cys)
c.97A>T (p.Ser33Cys)
n.379A>T
n.368A>T
c.847A>T (p.Ser283Cys)
c.1075A>T (p.Ser359Cys)
c.982A>T (p.Ser328Cys)
Xg.19358957G>ACA412396149PDHA1c.962G>A (p.Ser321Asn)
c.*633G>A (n.*633G>A)
c.1025G>A (p.Ser342Asn)
c.1055G>A (p.Ser352Asn)
n.736G>A
c.*273G>A (n.*273G>A)
c.*396G>A (n.*396G>A)
c.941G>A (p.Ser314Asn)
c.98G>A (p.Ser33Asn)
n.380G>A
n.369G>A
c.848G>A (p.Ser283Asn)
c.1076G>A (p.Ser359Asn)
c.983G>A (p.Ser328Asn)
dbSNP gnomAD v2 gnomAD v4
Xg.19358957G>CCA412396150PDHA1c.962G>C (p.Ser321Thr)
c.*633G>C (n.*633G>C)
c.1025G>C (p.Ser342Thr)
c.1055G>C (p.Ser352Thr)
n.736G>C
c.*273G>C (n.*273G>C)
c.*396G>C (n.*396G>C)
c.941G>C (p.Ser314Thr)
c.98G>C (p.Ser33Thr)
n.380G>C
n.369G>C
c.848G>C (p.Ser283Thr)
c.1076G>C (p.Ser359Thr)
c.983G>C (p.Ser328Thr)
Xg.19358957G=CA2418225235PDHA1c.962G= (p.Ser321=)
c.*633G= (n.*633G=)
c.1025G= (p.Ser342=)
c.1055G= (p.Ser352=)
n.736G=
c.*273G= (n.*273G=)
c.*396G= (n.*396G=)
c.941G= (p.Ser314=)
c.98G= (p.Ser33=)
n.380G=
n.369G=
c.848G= (p.Ser283=)
c.1076G= (p.Ser359=)
c.983G= (p.Ser328=)
Xg.19358957G>TCA412396151PDHA1c.962G>T (p.Ser321Ile)
c.*633G>T (n.*633G>T)
c.1025G>T (p.Ser342Ile)
c.1055G>T (p.Ser352Ile)
n.736G>T
c.*273G>T (n.*273G>T)
c.*396G>T (n.*396G>T)
c.941G>T (p.Ser314Ile)
c.98G>T (p.Ser33Ile)
n.380G>T
n.369G>T
c.848G>T (p.Ser283Ile)
c.1076G>T (p.Ser359Ile)
c.983G>T (p.Ser328Ile)
Xg.19358958T>ACA412396152PDHA1c.963T>A (p.Ser321Arg)
c.*634T>A (n.*634T>A)
c.1026T>A (p.Ser342Arg)
c.1056T>A (p.Ser352Arg)
n.737T>A
c.*274T>A (n.*274T>A)
c.*397T>A (n.*397T>A)
c.942T>A (p.Ser314Arg)
c.99T>A (p.Ser33Arg)
n.381T>A
n.370T>A
c.849T>A (p.Ser283Arg)
c.1077T>A (p.Ser359Arg)
c.984T>A (p.Ser328Arg)
Xg.19358958T>CCA515486325PDHA1c.963T>C (p.Ser321=)
c.*634T>C (n.*634T>C)
c.1026T>C (p.Ser342=)
c.1056T>C (p.Ser352=)
n.737T>C
c.*274T>C (n.*274T>C)
c.*397T>C (n.*397T>C)
c.942T>C (p.Ser314=)
c.99T>C (p.Ser33=)
n.381T>C
n.370T>C
c.849T>C (p.Ser283=)
c.1077T>C (p.Ser359=)
c.984T>C (p.Ser328=)
Xg.19358958T>GCA412396153PDHA1c.963T>G (p.Ser321Arg)
c.*634T>G (n.*634T>G)
c.1026T>G (p.Ser342Arg)
c.1056T>G (p.Ser352Arg)
n.737T>G
c.*274T>G (n.*274T>G)
c.*397T>G (n.*397T>G)
c.942T>G (p.Ser314Arg)
c.99T>G (p.Ser33Arg)
n.381T>G
n.370T>G
c.849T>G (p.Ser283Arg)
c.1077T>G (p.Ser359Arg)
c.984T>G (p.Ser328Arg)
Xg.19358959G>ACA121219PDHA1c.964G>A (p.Asp322Asn)
c.*635G>A (n.*635G>A)
c.1027G>A (p.Asp343Asn)
c.1057G>A (p.Asp353Asn)
n.738G>A
c.*275G>A (n.*275G>A)
c.*398G>A (n.*398G>A)
c.943G>A (p.Asp315Asn)
c.100G>A (p.Asp34Asn)
n.382G>A
n.371G>A
c.850G>A (p.Asp284Asn)
c.1078G>A (p.Asp360Asn)
c.985G>A (p.Asp329Asn)
ClinVar dbSNP
Xg.19358959G>CCA412396154PDHA1c.964G>C (p.Asp322His)
c.*635G>C (n.*635G>C)
c.1027G>C (p.Asp343His)
c.1057G>C (p.Asp353His)
n.738G>C
c.*275G>C (n.*275G>C)
c.*398G>C (n.*398G>C)
c.943G>C (p.Asp315His)
c.100G>C (p.Asp34His)
n.382G>C
n.371G>C
c.850G>C (p.Asp284His)
c.1078G>C (p.Asp360His)
c.985G>C (p.Asp329His)
Xg.19358959G=CA2418225236PDHA1c.964G= (p.Asp322=)
c.*635G= (n.*635G=)
c.1027G= (p.Asp343=)
c.1057G= (p.Asp353=)
n.738G=
c.*275G= (n.*275G=)
c.*398G= (n.*398G=)
c.943G= (p.Asp315=)
c.100G= (p.Asp34=)
n.382G=
n.371G=
c.850G= (p.Asp284=)
c.1078G= (p.Asp360=)
c.985G= (p.Asp329=)

Number of alleles fetched