Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.19358904_19358952dup | CA2739268099 | PDHA1 | c.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 | ClinVar |
X | g.19358937_19358952dup | CA2695231652 | PDHA1 | c.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) | |
X | g.19358950_19358956dup | CA2580615401 | PDHA1 | c.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) | ClinVar dbSNP |
X | g.19358950_19358956del | CA121204 | PDHA1 | c.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) | ClinVar dbSNP gnomAD v4 |
X | g.19358949_19358951dup | CA2580615402 | PDHA1 | c.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) | ClinVar |
X | g.19358949_19358951del | CA658684283 | PDHA1 | c.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) | ClinVar dbSNP |
X | g.19358948_19358952delinsGAAGT | CA2418225231 | PDHA1 | c.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=) | |
X | g.19358952_19358955del | CA323384 | PDHA1 | c.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 |
X | g.19358950A>C | CA412396131 | PDHA1 | c.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) | |
X | g.19358950A>G | CA412396132 | PDHA1 | c.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 |
X | g.19358950A>T | CA412396130 | PDHA1 | c.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) | |
X | g.19358953_19358958dup | CA2695231655 | PDHA1 | c.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) | |
X | g.19358950_19359008dup | CA915950757 | PDHA1 | c.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 |
X | g.19358951G>A | CA412396133 | PDHA1 | c.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 |
X | g.19358951G>C | CA412396134 | PDHA1 | c.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) | |
X | g.19358951G>T | CA412396135 | PDHA1 | c.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) | |
X | g.19358952T>A | CA412396136 | PDHA1 | c.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 |
X | g.19358952T>C | CA515486319 | PDHA1 | c.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=) | |
X | g.19358952T>G | CA412396137 | PDHA1 | c.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) | |
X | g.19358952_19358955delinsTAAG | CA2418225233 | PDHA1 | c.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=) | |
X | g.19358953A>C | CA412396138 | PDHA1 | c.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) | |
X | g.19358953A>G | CA412396139 | PDHA1 | c.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) | |
X | g.19358953A>T | CA412396140 | PDHA1 | c.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) | |
X | g.19358954del | CA2579566420 | PDHA1 | c.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) | |
X | g.19358953_19358956dup | CA320449 | PDHA1 | c.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 |
X | g.19358954_19358956del | CA121206 | PDHA1 | c.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 |
X | g.19358954A>C | CA412396143 | PDHA1 | c.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) | |
X | g.19358954A>G | CA412396141 | PDHA1 | c.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) | |
X | g.19358954A>T | CA412396142 | PDHA1 | c.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) | |
X | g.19358955G>A | CA327030570 | PDHA1 | c.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 |
X | g.19358955G>C | CA412396144 | PDHA1 | c.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) | |
X | g.19358955G= | CA2418225234 | PDHA1 | c.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=) | |
X | g.19358955G>T | CA412396145 | PDHA1 | c.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) | |
X | g.19358956A>C | CA412396146 | PDHA1 | c.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) | |
X | g.19358956A>G | CA412396147 | PDHA1 | c.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 |
X | g.19358956A>T | CA412396148 | PDHA1 | c.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) | |
X | g.19358957G>A | CA412396149 | PDHA1 | c.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 |
X | g.19358957G>C | CA412396150 | PDHA1 | c.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) | |
X | g.19358957G= | CA2418225235 | PDHA1 | c.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=) | |
X | g.19358957G>T | CA412396151 | PDHA1 | c.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) | |
X | g.19358958T>A | CA412396152 | PDHA1 | c.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) | |
X | g.19358958T>C | CA515486325 | PDHA1 | c.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=) | |
X | g.19358958T>G | CA412396153 | PDHA1 | c.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) | |
X | g.19358959G>A | CA121219 | PDHA1 | c.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 |
X | g.19358959G>C | CA412396154 | PDHA1 | c.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) | |
X | g.19358959G= | CA2418225236 | PDHA1 | c.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=) | |
X | g.19358959G>T | CA412396155 | PDHA1 | c.964G>T (p.Asp322Tyr) c.*635G>T (n.*635G>T) c.1027G>T (p.Asp343Tyr) c.1057G>T (p.Asp353Tyr) n.738G>T c.*275G>T (n.*275G>T) c.*398G>T (n.*398G>T) c.943G>T (p.Asp315Tyr) c.100G>T (p.Asp34Tyr) n.382G>T n.371G>T c.850G>T (p.Asp284Tyr) c.1078G>T (p.Asp360Tyr) c.985G>T (p.Asp329Tyr) | |
X | g.19358960A>C | CA412396156 | PDHA1 | c.965A>C (p.Asp322Ala) c.*636A>C (n.*636A>C) c.1028A>C (p.Asp343Ala) c.1058A>C (p.Asp353Ala) n.739A>C c.*276A>C (n.*276A>C) c.*399A>C (n.*399A>C) c.944A>C (p.Asp315Ala) c.101A>C (p.Asp34Ala) n.383A>C n.372A>C c.851A>C (p.Asp284Ala) c.1079A>C (p.Asp360Ala) c.986A>C (p.Asp329Ala) | |
X | g.19358960A>G | CA412396157 | PDHA1 | c.965A>G (p.Asp322Gly) c.*636A>G (n.*636A>G) c.1028A>G (p.Asp343Gly) c.1058A>G (p.Asp353Gly) n.739A>G c.*276A>G (n.*276A>G) c.*399A>G (n.*399A>G) c.944A>G (p.Asp315Gly) c.101A>G (p.Asp34Gly) n.383A>G n.372A>G c.851A>G (p.Asp284Gly) c.1079A>G (p.Asp360Gly) c.986A>G (p.Asp329Gly) | |
X | g.19358960A>T | CA412396158 | PDHA1 | c.965A>T (p.Asp322Val) c.*636A>T (n.*636A>T) c.1028A>T (p.Asp343Val) c.1058A>T (p.Asp353Val) n.739A>T c.*276A>T (n.*276A>T) c.*399A>T (n.*399A>T) c.944A>T (p.Asp315Val) c.101A>T (p.Asp34Val) n.383A>T n.372A>T c.851A>T (p.Asp284Val) c.1079A>T (p.Asp360Val) c.986A>T (p.Asp329Val) |