WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358965_19359039dup | CA640522581 | PDHA1 | c.970_1029+15dup c.*641_*700+15dup c.1033_1092+15dup c.1063_1122+15dup n.744_803+15dup c.*281_*340+15dup c.*404_*463+15dup c.949_1008+15dup c.106_165+15dup n.388_447+15dup c.856_915+15dup c.1084_1143+15dup c.991_1050+15dup | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19358976_19359057dup | CA1131434219 | PDHA1 | c.981_1029+33dup c.*652_*700+33dup c.1044_1092+33dup c.1074_1122+33dup n.755_803+33dup c.*292_*340+33dup c.*415_*463+33dup c.960_1008+33dup c.117_165+33dup n.399_447+33dup c.867_915+33dup c.1095_1143+33dup c.1002_1050+33dup | gnomAD v3 gnomAD v4 |
| X | g.19358989_19359051dup | CA2693251100 | PDHA1 | c.994_1029+27dup c.*665_*700+27dup c.1057_1092+27dup c.1087_1122+27dup n.768_803+27dup c.*305_*340+27dup c.*428_*463+27dup c.973_1008+27dup c.130_165+27dup n.412_447+27dup c.880_915+27dup c.1108_1143+27dup c.1015_1050+27dup | gnomAD v4 |
| X | g.19358997_19359030dup | CA2573055207 | PDHA1 | c.1002_1029+6dup c.*673_*700+6dup c.1065_1092+6dup c.1095_1122+6dup n.776_803+6dup c.*313_*340+6dup c.*436_*463+6dup c.981_1008+6dup c.138_165+6dup n.420_447+6dup c.888_915+6dup c.1116_1143+6dup c.1023_1050+6dup | ClinVar dbSNP |
| X | g.19359001_19359014dup | CA324481 | PDHA1 | c.1006_1019dup (p.Glu340AspfsTer8) c.*677_*690dup (n.*677_*690dup) c.1069_1082dup (p.Glu361AspfsTer8) c.1099_1112dup (p.Glu371AspfsTer8) n.780_793dup c.*317_*330dup (n.*317_*330dup) c.*440_*453dup (n.*440_*453dup) c.985_998dup (p.Glu333AspfsTer8) c.142_155dup (p.Glu52AspfsTer8) n.424_437dup n.413_426dup c.892_905dup (p.Glu302AspfsTer8) c.1120_1133dup (p.Glu378AspfsTer8) c.1027_1040dup (p.Glu347AspfsTer8) | ClinVar dbSNP |
| X | g.19359002_19359014dup | CA2695231661 | PDHA1 | c.1007_1019dup (p.Glu340AspfsTer11) c.*678_*690dup (n.*678_*690dup) c.1070_1082dup (p.Glu361AspfsTer11) c.1100_1112dup (p.Glu371AspfsTer11) n.781_793dup c.*318_*330dup (n.*318_*330dup) c.*441_*453dup (n.*441_*453dup) c.986_998dup (p.Glu333AspfsTer11) c.143_155dup (p.Glu52AspfsTer11) n.425_437dup n.414_426dup c.893_905dup (p.Glu302AspfsTer11) c.1121_1133dup (p.Glu378AspfsTer11) c.1028_1040dup (p.Glu347AspfsTer11) | |
| X | g.19359007_19359019dup | CA2580100429 | PDHA1 | c.1012_1024dup (p.Leu342GlnfsTer9) c.*683_*695dup (n.*683_*695dup) c.1075_1087dup (p.Leu363GlnfsTer9) c.1105_1117dup (p.Leu373GlnfsTer9) n.786_798dup c.*323_*335dup (n.*323_*335dup) c.*446_*458dup (n.*446_*458dup) c.991_1003dup (p.Leu335GlnfsTer9) c.148_160dup (p.Leu54GlnfsTer9) n.430_442dup n.419_431dup c.898_910dup (p.Leu304GlnfsTer9) c.1126_1138dup (p.Leu380GlnfsTer9) c.1033_1045dup (p.Leu349GlnfsTer9) | ClinVar |
| X | g.19359009T>A | CA412396270 | PDHA1 | c.1014T>A (p.Ser338Arg) c.*685T>A (n.*685T>A) c.1077T>A (p.Ser359Arg) c.1107T>A (p.Ser369Arg) n.788T>A c.*325T>A (n.*325T>A) c.*448T>A (n.*448T>A) c.993T>A (p.Ser331Arg) c.150T>A (p.Ser50Arg) n.432T>A n.421T>A c.900T>A (p.Ser300Arg) c.1128T>A (p.Ser376Arg) c.1035T>A (p.Ser345Arg) | |
| X | g.19359009T>C | CA515486383 | PDHA1 | c.1014T>C (p.Ser338=) c.*685T>C (n.*685T>C) c.1077T>C (p.Ser359=) c.1107T>C (p.Ser369=) n.788T>C c.*325T>C (n.*325T>C) c.*448T>C (n.*448T>C) c.993T>C (p.Ser331=) c.150T>C (p.Ser50=) n.432T>C n.421T>C c.900T>C (p.Ser300=) c.1128T>C (p.Ser376=) c.1035T>C (p.Ser345=) | |
| X | g.19359009T>G | CA412396271 | PDHA1 | c.1014T>G (p.Ser338Arg) c.*685T>G (n.*685T>G) c.1077T>G (p.Ser359Arg) c.1107T>G (p.Ser369Arg) n.788T>G c.*325T>G (n.*325T>G) c.*448T>G (n.*448T>G) c.993T>G (p.Ser331Arg) c.150T>G (p.Ser50Arg) n.432T>G n.421T>G c.900T>G (p.Ser300Arg) c.1128T>G (p.Ser376Arg) c.1035T>G (p.Ser345Arg) | |
| X | g.19359010G>A | CA412396272 | PDHA1 | c.1015G>A (p.Val339Met) c.*686G>A (n.*686G>A) c.1078G>A (p.Val360Met) c.1108G>A (p.Val370Met) n.789G>A c.*326G>A (n.*326G>A) c.*449G>A (n.*449G>A) c.994G>A (p.Val332Met) c.151G>A (p.Val51Met) n.433G>A n.422G>A c.901G>A (p.Val301Met) c.1129G>A (p.Val377Met) c.1036G>A (p.Val346Met) | gnomAD v4 |
| X | g.19359010G>C | CA412396274 | PDHA1 | c.1015G>C (p.Val339Leu) c.*686G>C (n.*686G>C) c.1078G>C (p.Val360Leu) c.1108G>C (p.Val370Leu) n.789G>C c.*326G>C (n.*326G>C) c.*449G>C (n.*449G>C) c.994G>C (p.Val332Leu) c.151G>C (p.Val51Leu) n.433G>C n.422G>C c.901G>C (p.Val301Leu) c.1129G>C (p.Val377Leu) c.1036G>C (p.Val346Leu) | |
| X | g.19359010G= | CA2418225255 | PDHA1 | c.1015G= (p.Val339=) c.*686G= (n.*686G=) c.1078G= (p.Val360=) c.1108G= (p.Val370=) n.789G= c.*326G= (n.*326G=) c.*449G= (n.*449G=) c.994G= (p.Val332=) c.151G= (p.Val51=) n.433G= n.422G= c.901G= (p.Val301=) c.1129G= (p.Val377=) c.1036G= (p.Val346=) | |
| X | g.19359010G>T | CA412396273 | PDHA1 | c.1015G>T (p.Val339Leu) c.*686G>T (n.*686G>T) c.1078G>T (p.Val360Leu) c.1108G>T (p.Val370Leu) n.789G>T c.*326G>T (n.*326G>T) c.*449G>T (n.*449G>T) c.994G>T (p.Val332Leu) c.151G>T (p.Val51Leu) n.433G>T n.422G>T c.901G>T (p.Val301Leu) c.1129G>T (p.Val377Leu) c.1036G>T (p.Val346Leu) | |
| X | g.19359011T>A | CA412396275 | PDHA1 | c.1016T>A (p.Val339Glu) c.*687T>A (n.*687T>A) c.1079T>A (p.Val360Glu) c.1109T>A (p.Val370Glu) n.790T>A c.*327T>A (n.*327T>A) c.*450T>A (n.*450T>A) c.995T>A (p.Val332Glu) c.152T>A (p.Val51Glu) n.434T>A n.423T>A c.902T>A (p.Val301Glu) c.1130T>A (p.Val377Glu) c.1037T>A (p.Val346Glu) | |
| X | g.19359011T>C | CA412396277 | PDHA1 | c.1016T>C (p.Val339Ala) c.*687T>C (n.*687T>C) c.1079T>C (p.Val360Ala) c.1109T>C (p.Val370Ala) n.790T>C c.*327T>C (n.*327T>C) c.*450T>C (n.*450T>C) c.995T>C (p.Val332Ala) c.152T>C (p.Val51Ala) n.434T>C n.423T>C c.902T>C (p.Val301Ala) c.1130T>C (p.Val377Ala) c.1037T>C (p.Val346Ala) | |
| X | g.19359011T>G | CA412396276 | PDHA1 | c.1016T>G (p.Val339Gly) c.*687T>G (n.*687T>G) c.1079T>G (p.Val360Gly) c.1109T>G (p.Val370Gly) n.790T>G c.*327T>G (n.*327T>G) c.*450T>G (n.*450T>G) c.995T>G (p.Val332Gly) c.152T>G (p.Val51Gly) n.434T>G n.423T>G c.902T>G (p.Val301Gly) c.1130T>G (p.Val377Gly) c.1037T>G (p.Val346Gly) | |
| X | g.19359014_19359044dup | CA1139667329 | PDHA1 | c.1019_1029+20dup c.*690_*700+20dup c.1082_1092+20dup c.1112_1122+20dup n.793_803+20dup c.*330_*340+20dup c.*453_*463+20dup c.998_1008+20dup c.155_165+20dup n.437_447+20dup c.905_915+20dup c.1133_1143+20dup c.1040_1050+20dup | ClinVar dbSNP |
| X | g.19359012G>A | CA515486385 | PDHA1 | c.1017G>A (p.Val339=) c.*688G>A (n.*688G>A) c.1080G>A (p.Val360=) c.1110G>A (p.Val370=) n.791G>A c.*328G>A (n.*328G>A) c.*451G>A (n.*451G>A) c.996G>A (p.Val332=) c.153G>A (p.Val51=) n.435G>A n.424G>A c.903G>A (p.Val301=) c.1131G>A (p.Val377=) c.1038G>A (p.Val346=) | gnomAD v4 |
| X | g.19359012G>C | CA515486386 | PDHA1 | c.1017G>C (p.Val339=) c.*688G>C (n.*688G>C) c.1080G>C (p.Val360=) c.1110G>C (p.Val370=) n.791G>C c.*328G>C (n.*328G>C) c.*451G>C (n.*451G>C) c.996G>C (p.Val332=) c.153G>C (p.Val51=) n.435G>C n.424G>C c.903G>C (p.Val301=) c.1131G>C (p.Val377=) c.1038G>C (p.Val346=) | |
| X | g.19359012G= | CA2418225256 | PDHA1 | c.1017G= (p.Val339=) c.*688G= (n.*688G=) c.1080G= (p.Val360=) c.1110G= (p.Val370=) n.791G= c.*328G= (n.*328G=) c.*451G= (n.*451G=) c.996G= (p.Val332=) c.153G= (p.Val51=) n.435G= n.424G= c.903G= (p.Val301=) c.1131G= (p.Val377=) c.1038G= (p.Val346=) | |
| X | g.19359012G>T | CA515486387 | PDHA1 | c.1017G>T (p.Val339=) c.*688G>T (n.*688G>T) c.1080G>T (p.Val360=) c.1110G>T (p.Val370=) n.791G>T c.*328G>T (n.*328G>T) c.*451G>T (n.*451G>T) c.996G>T (p.Val332=) c.153G>T (p.Val51=) n.435G>T n.424G>T c.903G>T (p.Val301=) c.1131G>T (p.Val377=) c.1038G>T (p.Val346=) | dbSNP |
| X | g.19359013del | CA2693251101 | PDHA1 | c.1018del (p.Glu340LysfsTer3) c.*689del (n.*689del) c.1081del (p.Glu361LysfsTer3) c.1111del (p.Glu371LysfsTer3) n.792del c.*329del (n.*329del) c.*452del (n.*452del) c.997del (p.Glu333LysfsTer3) c.154del (p.Glu52LysfsTer3) n.436del n.425del c.904del (p.Glu302LysfsTer3) c.1132del (p.Glu378LysfsTer3) c.1039del (p.Glu347LysfsTer3) | gnomAD v4 |
| X | g.19359013G>A | CA412396278 | PDHA1 | c.1018G>A (p.Glu340Lys) c.*689G>A (n.*689G>A) c.1081G>A (p.Glu361Lys) c.1111G>A (p.Glu371Lys) n.792G>A c.*329G>A (n.*329G>A) c.*452G>A (n.*452G>A) c.997G>A (p.Glu333Lys) c.154G>A (p.Glu52Lys) n.436G>A n.425G>A c.904G>A (p.Glu302Lys) c.1132G>A (p.Glu378Lys) c.1039G>A (p.Glu347Lys) | gnomAD v4 |
| X | g.19359013G>C | CA412396280 | PDHA1 | c.1018G>C (p.Glu340Gln) c.*689G>C (n.*689G>C) c.1081G>C (p.Glu361Gln) c.1111G>C (p.Glu371Gln) n.792G>C c.*329G>C (n.*329G>C) c.*452G>C (n.*452G>C) c.997G>C (p.Glu333Gln) c.154G>C (p.Glu52Gln) n.436G>C n.425G>C c.904G>C (p.Glu302Gln) c.1132G>C (p.Glu378Gln) c.1039G>C (p.Glu347Gln) | |
| X | g.19359013G>T | CA412396279 | PDHA1 | c.1018G>T (p.Glu340Ter) c.*689G>T (n.*689G>T) c.1081G>T (p.Glu361Ter) c.1111G>T (p.Glu371Ter) n.792G>T c.*329G>T (n.*329G>T) c.*452G>T (n.*452G>T) c.997G>T (p.Glu333Ter) c.154G>T (p.Glu52Ter) n.436G>T n.425G>T c.904G>T (p.Glu302Ter) c.1132G>T (p.Glu378Ter) c.1039G>T (p.Glu347Ter) | |
| X | g.19359016_19359018del | CA2695231662 | PDHA1 | c.1021_1023del (p.Glu341del) c.*692_*694del (n.*692_*694del) c.1084_1086del (p.Glu362del) c.1114_1116del (p.Glu372del) n.795_797del c.*332_*334del (n.*332_*334del) c.*455_*457del (n.*455_*457del) c.1000_1002del (p.Glu334del) c.157_159del (p.Glu53del) n.439_441del n.428_430del c.907_909del (p.Glu303del) c.1135_1137del (p.Glu379del) c.1042_1044del (p.Glu348del) | |
| X | g.19359014A>C | CA412396281 | PDHA1 | c.1019A>C (p.Glu340Ala) c.*690A>C (n.*690A>C) c.1082A>C (p.Glu361Ala) c.1112A>C (p.Glu371Ala) n.793A>C c.*330A>C (n.*330A>C) c.*453A>C (n.*453A>C) c.998A>C (p.Glu333Ala) c.155A>C (p.Glu52Ala) n.437A>C n.426A>C c.905A>C (p.Glu302Ala) c.1133A>C (p.Glu378Ala) c.1040A>C (p.Glu347Ala) | |
| X | g.19359014A>G | CA412396283 | PDHA1 | c.1019A>G (p.Glu340Gly) c.*690A>G (n.*690A>G) c.1082A>G (p.Glu361Gly) c.1112A>G (p.Glu371Gly) n.793A>G c.*330A>G (n.*330A>G) c.*453A>G (n.*453A>G) c.998A>G (p.Glu333Gly) c.155A>G (p.Glu52Gly) n.437A>G n.426A>G c.905A>G (p.Glu302Gly) c.1133A>G (p.Glu378Gly) c.1040A>G (p.Glu347Gly) | |
| X | g.19359014A>T | CA412396282 | PDHA1 | c.1019A>T (p.Glu340Val) c.*690A>T (n.*690A>T) c.1082A>T (p.Glu361Val) c.1112A>T (p.Glu371Val) n.793A>T c.*330A>T (n.*330A>T) c.*453A>T (n.*453A>T) c.998A>T (p.Glu333Val) c.155A>T (p.Glu52Val) n.437A>T n.426A>T c.905A>T (p.Glu302Val) c.1133A>T (p.Glu378Val) c.1040A>T (p.Glu347Val) | |
| X | g.19359015_19359018dup | CA515486389 | PDHA1 | c.1020_1023dup (p.Leu342ArgfsTer6) c.*691_*694dup (n.*691_*694dup) c.1083_1086dup (p.Leu363ArgfsTer6) c.1113_1116dup (p.Leu373ArgfsTer6) n.794_797dup c.*331_*334dup (n.*331_*334dup) c.*454_*457dup (n.*454_*457dup) c.999_1002dup (p.Leu335ArgfsTer6) c.156_159dup (p.Leu54ArgfsTer6) n.438_441dup n.427_430dup c.906_909dup (p.Leu304ArgfsTer6) c.1134_1137dup (p.Leu380ArgfsTer6) c.1041_1044dup (p.Leu349ArgfsTer6) | |
| X | g.19359015A= | CA2418225257 | PDHA1 | c.1020A= (p.Glu340=) c.*691A= (n.*691A=) c.1083A= (p.Glu361=) c.1113A= (p.Glu371=) n.794A= c.*331A= (n.*331A=) c.*454A= (n.*454A=) c.999A= (p.Glu333=) c.156A= (p.Glu52=) n.438A= n.427A= c.906A= (p.Glu302=) c.1134A= (p.Glu378=) c.1041A= (p.Glu347=) | |
| X | g.19359015A>C | CA10363173 | PDHA1 | c.1020A>C (p.Glu340Asp) c.*691A>C (n.*691A>C) c.1083A>C (p.Glu361Asp) c.1113A>C (p.Glu371Asp) n.794A>C c.*331A>C (n.*331A>C) c.*454A>C (n.*454A>C) c.999A>C (p.Glu333Asp) c.156A>C (p.Glu52Asp) n.438A>C n.427A>C c.906A>C (p.Glu302Asp) c.1134A>C (p.Glu378Asp) c.1041A>C (p.Glu347Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359015A>G | CA515486390 | PDHA1 | c.1020A>G (p.Glu340=) c.*691A>G (n.*691A>G) c.1083A>G (p.Glu361=) c.1113A>G (p.Glu371=) n.794A>G c.*331A>G (n.*331A>G) c.*454A>G (n.*454A>G) c.999A>G (p.Glu333=) c.156A>G (p.Glu52=) n.438A>G n.427A>G c.906A>G (p.Glu302=) c.1134A>G (p.Glu378=) c.1041A>G (p.Glu347=) | gnomAD v4 |
| X | g.19359015A>T | CA412396284 | PDHA1 | c.1020A>T (p.Glu340Asp) c.*691A>T (n.*691A>T) c.1083A>T (p.Glu361Asp) c.1113A>T (p.Glu371Asp) n.794A>T c.*331A>T (n.*331A>T) c.*454A>T (n.*454A>T) c.999A>T (p.Glu333Asp) c.156A>T (p.Glu52Asp) n.438A>T n.427A>T c.906A>T (p.Glu302Asp) c.1134A>T (p.Glu378Asp) c.1041A>T (p.Glu347Asp) | |
| X | g.19359015_19359034del | CA2695231663 | PDHA1 | c.1020_1029+10del c.*691_*700+10del c.1083_1092+10del c.1113_1122+10del n.794_803+10del c.*331_*340+10del c.*454_*463+10del c.999_1008+10del c.156_165+10del n.438_447+10del c.906_915+10del c.1134_1143+10del c.1041_1050+10del | |
| X | g.19359015_19359038dup | CA2693251102 | PDHA1 | c.1020_1029+14dup c.*691_*700+14dup c.1083_1092+14dup c.1113_1122+14dup n.794_803+14dup c.*331_*340+14dup c.*454_*463+14dup c.999_1008+14dup c.156_165+14dup n.438_447+14dup c.906_915+14dup c.1134_1143+14dup c.1041_1050+14dup | gnomAD v4 |
| X | g.19359016G>A | CA412396285 | PDHA1 | c.1021G>A (p.Glu341Lys) c.*692G>A (n.*692G>A) c.1084G>A (p.Glu362Lys) c.1114G>A (p.Glu372Lys) n.795G>A c.*332G>A (n.*332G>A) c.*455G>A (n.*455G>A) c.1000G>A (p.Glu334Lys) c.157G>A (p.Glu53Lys) n.439G>A n.428G>A c.907G>A (p.Glu303Lys) c.1135G>A (p.Glu379Lys) c.1042G>A (p.Glu348Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359016G>C | CA412396286 | PDHA1 | c.1021G>C (p.Glu341Gln) c.*692G>C (n.*692G>C) c.1084G>C (p.Glu362Gln) c.1114G>C (p.Glu372Gln) n.795G>C c.*332G>C (n.*332G>C) c.*455G>C (n.*455G>C) c.1000G>C (p.Glu334Gln) c.157G>C (p.Glu53Gln) n.439G>C n.428G>C c.907G>C (p.Glu303Gln) c.1135G>C (p.Glu379Gln) c.1042G>C (p.Glu348Gln) | gnomAD v4 |
| X | g.19359016G= | CA2418225258 | PDHA1 | c.1021G= (p.Glu341=) c.*692G= (n.*692G=) c.1084G= (p.Glu362=) c.1114G= (p.Glu372=) n.795G= c.*332G= (n.*332G=) c.*455G= (n.*455G=) c.1000G= (p.Glu334=) c.157G= (p.Glu53=) n.439G= n.428G= c.907G= (p.Glu303=) c.1135G= (p.Glu379=) c.1042G= (p.Glu348=) | |
| X | g.19359016G>T | CA412396287 | PDHA1 | c.1021G>T (p.Glu341Ter) c.*692G>T (n.*692G>T) c.1084G>T (p.Glu362Ter) c.1114G>T (p.Glu372Ter) n.795G>T c.*332G>T (n.*332G>T) c.*455G>T (n.*455G>T) c.1000G>T (p.Glu334Ter) c.157G>T (p.Glu53Ter) n.439G>T n.428G>T c.907G>T (p.Glu303Ter) c.1135G>T (p.Glu379Ter) c.1042G>T (p.Glu348Ter) | |
| X | g.19359017A>C | CA412396288 | PDHA1 | c.1022A>C (p.Glu341Ala) c.*693A>C (n.*693A>C) c.1085A>C (p.Glu362Ala) c.1115A>C (p.Glu372Ala) n.796A>C c.*333A>C (n.*333A>C) c.*456A>C (n.*456A>C) c.1001A>C (p.Glu334Ala) c.158A>C (p.Glu53Ala) n.440A>C n.429A>C c.908A>C (p.Glu303Ala) c.1136A>C (p.Glu379Ala) c.1043A>C (p.Glu348Ala) | |
| X | g.19359017A>G | CA412396289 | PDHA1 | c.1022A>G (p.Glu341Gly) c.*693A>G (n.*693A>G) c.1085A>G (p.Glu362Gly) c.1115A>G (p.Glu372Gly) n.796A>G c.*333A>G (n.*333A>G) c.*456A>G (n.*456A>G) c.1001A>G (p.Glu334Gly) c.158A>G (p.Glu53Gly) n.440A>G n.429A>G c.908A>G (p.Glu303Gly) c.1136A>G (p.Glu379Gly) c.1043A>G (p.Glu348Gly) | |
| X | g.19359017A>T | CA412396290 | PDHA1 | c.1022A>T (p.Glu341Val) c.*693A>T (n.*693A>T) c.1085A>T (p.Glu362Val) c.1115A>T (p.Glu372Val) n.796A>T c.*333A>T (n.*333A>T) c.*456A>T (n.*456A>T) c.1001A>T (p.Glu334Val) c.158A>T (p.Glu53Val) n.440A>T n.429A>T c.908A>T (p.Glu303Val) c.1136A>T (p.Glu379Val) c.1043A>T (p.Glu348Val) | |
| X | g.19359018A>C | CA412396291 | PDHA1 | c.1023A>C (p.Glu341Asp) c.*694A>C (n.*694A>C) c.1086A>C (p.Glu362Asp) c.1116A>C (p.Glu372Asp) n.797A>C c.*334A>C (n.*334A>C) c.*457A>C (n.*457A>C) c.1002A>C (p.Glu334Asp) c.159A>C (p.Glu53Asp) n.441A>C n.430A>C c.909A>C (p.Glu303Asp) c.1137A>C (p.Glu379Asp) c.1044A>C (p.Glu348Asp) | |
| X | g.19359018A>G | CA515486394 | PDHA1 | c.1023A>G (p.Glu341=) c.*694A>G (n.*694A>G) c.1086A>G (p.Glu362=) c.1116A>G (p.Glu372=) n.797A>G c.*334A>G (n.*334A>G) c.*457A>G (n.*457A>G) c.1002A>G (p.Glu334=) c.159A>G (p.Glu53=) n.441A>G n.430A>G c.909A>G (p.Glu303=) c.1137A>G (p.Glu379=) c.1044A>G (p.Glu348=) | gnomAD v4 |
| X | g.19359018A>T | CA412396292 | PDHA1 | c.1023A>T (p.Glu341Asp) c.*694A>T (n.*694A>T) c.1086A>T (p.Glu362Asp) c.1116A>T (p.Glu372Asp) n.797A>T c.*334A>T (n.*334A>T) c.*457A>T (n.*457A>T) c.1002A>T (p.Glu334Asp) c.159A>T (p.Glu53Asp) n.441A>T n.430A>T c.909A>T (p.Glu303Asp) c.1137A>T (p.Glu379Asp) c.1044A>T (p.Glu348Asp) | |
| X | g.19359019C>A | CA412396293 | PDHA1 | c.1024C>A (p.Leu342Ile) c.*695C>A (n.*695C>A) c.1087C>A (p.Leu363Ile) c.1117C>A (p.Leu373Ile) n.798C>A c.*335C>A (n.*335C>A) c.*458C>A (n.*458C>A) c.1003C>A (p.Leu335Ile) c.160C>A (p.Leu54Ile) n.442C>A n.431C>A c.910C>A (p.Leu304Ile) c.1138C>A (p.Leu380Ile) c.1045C>A (p.Leu349Ile) | gnomAD v4 |
| X | g.19359019C= | CA2418225259 | PDHA1 | c.1024C= (p.Leu342=) c.*695C= (n.*695C=) c.1087C= (p.Leu363=) c.1117C= (p.Leu373=) n.798C= c.*335C= (n.*335C=) c.*458C= (n.*458C=) c.1003C= (p.Leu335=) c.160C= (p.Leu54=) n.442C= n.431C= c.910C= (p.Leu304=) c.1138C= (p.Leu380=) c.1045C= (p.Leu349=) | |
| X | g.19359019C>G | CA412396294 | PDHA1 | c.1024C>G (p.Leu342Val) c.*695C>G (n.*695C>G) c.1087C>G (p.Leu363Val) c.1117C>G (p.Leu373Val) n.798C>G c.*335C>G (n.*335C>G) c.*458C>G (n.*458C>G) c.1003C>G (p.Leu335Val) c.160C>G (p.Leu54Val) n.442C>G n.431C>G c.910C>G (p.Leu304Val) c.1138C>G (p.Leu380Val) c.1045C>G (p.Leu349Val) |