| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | dbSNP gnomAD v4 |
| 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.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.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) | |
| X | g.19358961C>A | CA412396159 | PDHA1 | c.966C>A (p.Asp322Glu) c.*637C>A (n.*637C>A) c.1029C>A (p.Asp343Glu) c.1059C>A (p.Asp353Glu) n.740C>A c.*277C>A (n.*277C>A) c.*400C>A (n.*400C>A) c.945C>A (p.Asp315Glu) c.102C>A (p.Asp34Glu) n.384C>A n.373C>A c.852C>A (p.Asp284Glu) c.1080C>A (p.Asp360Glu) c.987C>A (p.Asp329Glu) | |
| X | g.19358961C= | CA2418225237 | PDHA1 | c.966C= (p.Asp322=) c.*637C= (n.*637C=) c.1029C= (p.Asp343=) c.1059C= (p.Asp353=) n.740C= c.*277C= (n.*277C=) c.*400C= (n.*400C=) c.945C= (p.Asp315=) c.102C= (p.Asp34=) n.384C= n.373C= c.852C= (p.Asp284=) c.1080C= (p.Asp360=) c.987C= (p.Asp329=) | |
| X | g.19358961C>G | CA412396160 | PDHA1 | c.966C>G (p.Asp322Glu) c.*637C>G (n.*637C>G) c.1029C>G (p.Asp343Glu) c.1059C>G (p.Asp353Glu) n.740C>G c.*277C>G (n.*277C>G) c.*400C>G (n.*400C>G) c.945C>G (p.Asp315Glu) c.102C>G (p.Asp34Glu) n.384C>G n.373C>G c.852C>G (p.Asp284Glu) c.1080C>G (p.Asp360Glu) c.987C>G (p.Asp329Glu) | |
| X | g.19358961C>T | CA515486330 | PDHA1 | c.966C>T (p.Asp322=) c.*637C>T (n.*637C>T) c.1029C>T (p.Asp343=) c.1059C>T (p.Asp353=) n.740C>T c.*277C>T (n.*277C>T) c.*400C>T (n.*400C>T) c.945C>T (p.Asp315=) c.102C>T (p.Asp34=) n.384C>T n.373C>T c.852C>T (p.Asp284=) c.1080C>T (p.Asp360=) c.987C>T (p.Asp329=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19358962C>A | CA412396161 | PDHA1 | c.967C>A (p.Pro323Thr) c.*638C>A (n.*638C>A) c.1030C>A (p.Pro344Thr) c.1060C>A (p.Pro354Thr) n.741C>A c.*278C>A (n.*278C>A) c.*401C>A (n.*401C>A) c.946C>A (p.Pro316Thr) c.103C>A (p.Pro35Thr) n.385C>A n.374C>A c.853C>A (p.Pro285Thr) c.1081C>A (p.Pro361Thr) c.988C>A (p.Pro330Thr) | |
| X | g.19358962C>G | CA412396162 | PDHA1 | c.967C>G (p.Pro323Ala) c.*638C>G (n.*638C>G) c.1030C>G (p.Pro344Ala) c.1060C>G (p.Pro354Ala) n.741C>G c.*278C>G (n.*278C>G) c.*401C>G (n.*401C>G) c.946C>G (p.Pro316Ala) c.103C>G (p.Pro35Ala) n.385C>G n.374C>G c.853C>G (p.Pro285Ala) c.1081C>G (p.Pro361Ala) c.988C>G (p.Pro330Ala) | |
| X | g.19358962C>T | CA412396163 | PDHA1 | c.967C>T (p.Pro323Ser) c.*638C>T (n.*638C>T) c.1030C>T (p.Pro344Ser) c.1060C>T (p.Pro354Ser) n.741C>T c.*278C>T (n.*278C>T) c.*401C>T (n.*401C>T) c.946C>T (p.Pro316Ser) c.103C>T (p.Pro35Ser) n.385C>T n.374C>T c.853C>T (p.Pro285Ser) c.1081C>T (p.Pro361Ser) c.988C>T (p.Pro330Ser) | |
| X | g.19358963C>A | CA412396164 | PDHA1 | c.968C>A (p.Pro323His) c.*639C>A (n.*639C>A) c.1031C>A (p.Pro344His) c.1061C>A (p.Pro354His) n.742C>A c.*279C>A (n.*279C>A) c.*402C>A (n.*402C>A) c.947C>A (p.Pro316His) c.104C>A (p.Pro35His) n.386C>A n.375C>A c.854C>A (p.Pro285His) c.1082C>A (p.Pro361His) c.989C>A (p.Pro330His) | gnomAD v4 |
| X | g.19358963C= | CA2418225238 | PDHA1 | c.968C= (p.Pro323=) c.*639C= (n.*639C=) c.1031C= (p.Pro344=) c.1061C= (p.Pro354=) n.742C= c.*279C= (n.*279C=) c.*402C= (n.*402C=) c.947C= (p.Pro316=) c.104C= (p.Pro35=) n.386C= n.375C= c.854C= (p.Pro285=) c.1082C= (p.Pro361=) c.989C= (p.Pro330=) | |
| X | g.19358963C>G | CA412396166 | PDHA1 | c.968C>G (p.Pro323Arg) c.*639C>G (n.*639C>G) c.1031C>G (p.Pro344Arg) c.1061C>G (p.Pro354Arg) n.742C>G c.*279C>G (n.*279C>G) c.*402C>G (n.*402C>G) c.947C>G (p.Pro316Arg) c.104C>G (p.Pro35Arg) n.386C>G n.375C>G c.854C>G (p.Pro285Arg) c.1082C>G (p.Pro361Arg) c.989C>G (p.Pro330Arg) | |
| X | g.19358963C>T | CA412396165 | PDHA1 | c.968C>T (p.Pro323Leu) c.*639C>T (n.*639C>T) c.1031C>T (p.Pro344Leu) c.1061C>T (p.Pro354Leu) n.742C>T c.*279C>T (n.*279C>T) c.*402C>T (n.*402C>T) c.947C>T (p.Pro316Leu) c.104C>T (p.Pro35Leu) n.386C>T n.375C>T c.854C>T (p.Pro285Leu) c.1082C>T (p.Pro361Leu) c.989C>T (p.Pro330Leu) | |
| X | g.19358964T>A | CA10363166 | PDHA1 | c.969T>A (p.Pro323=) c.*640T>A (n.*640T>A) c.1032T>A (p.Pro344=) c.1062T>A (p.Pro354=) n.743T>A c.*280T>A (n.*280T>A) c.*403T>A (n.*403T>A) c.948T>A (p.Pro316=) c.105T>A (p.Pro35=) n.387T>A n.376T>A c.855T>A (p.Pro285=) c.1083T>A (p.Pro361=) c.990T>A (p.Pro330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19358964T>C | CA515486332 | PDHA1 | c.969T>C (p.Pro323=) c.*640T>C (n.*640T>C) c.1032T>C (p.Pro344=) c.1062T>C (p.Pro354=) n.743T>C c.*280T>C (n.*280T>C) c.*403T>C (n.*403T>C) c.948T>C (p.Pro316=) c.105T>C (p.Pro35=) n.387T>C n.376T>C c.855T>C (p.Pro285=) c.1083T>C (p.Pro361=) c.990T>C (p.Pro330=) | gnomAD v4 |
| X | g.19358964T>G | CA515486333 | PDHA1 | c.969T>G (p.Pro323=) c.*640T>G (n.*640T>G) c.1032T>G (p.Pro344=) c.1062T>G (p.Pro354=) n.743T>G c.*280T>G (n.*280T>G) c.*403T>G (n.*403T>G) c.948T>G (p.Pro316=) c.105T>G (p.Pro35=) n.387T>G n.376T>G c.855T>G (p.Pro285=) c.1083T>G (p.Pro361=) c.990T>G (p.Pro330=) |