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.19359530_19359613dup | CA658684284 | PDHA1 | c.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 |
| X | g.19359546_19359554dup | CA2499226555 | PDHA1 | c.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 |
| X | g.19359549_19359569delinsCCTGAGCCACCTTTGGAAGAG | CA2418225587 | PDHA1 | c.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=) | |
| X | g.19359553_19359572del | CA121210 | PDHA1 | c.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 |
| X | g.19359551_19359568dup | CA2695231670 | PDHA1 | c.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) | |
| X | g.19359554G>A | CA515486438 | PDHA1 | c.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=) | |
| X | g.19359554G>C | CA412396664 | PDHA1 | c.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) | |
| X | g.19359554G>T | CA412396660 | PDHA1 | c.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) | |
| X | g.19359554_19359589dup | CA121224 | PDHA1 | c.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 |
| X | g.19359555C>A | CA412396669 | PDHA1 | c.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) | |
| X | g.19359555C>G | CA412396675 | PDHA1 | c.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) | |
| X | g.19359555C>T | CA412396672 | PDHA1 | c.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) | |
| X | g.19359556C>A | CA412396678 | PDHA1 | c.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) | |
| X | g.19359556C>G | CA412396684 | PDHA1 | c.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) | |
| X | g.19359556C>T | CA412396681 | PDHA1 | c.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) | |
| X | g.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCT | CA2418225589 | PDHA1 | c.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=) | |
| X | g.19359557A>C | CA515486439 | PDHA1 | c.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=) | |
| X | g.19359557A>G | CA515486440 | PDHA1 | c.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 |
| X | g.19359557A>T | CA515486441 | PDHA1 | c.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=) | |
| X | g.19359560_19359579del | CA1139667332 | PDHA1 | c.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 |
| X | g.19359558C>A | CA412396689 | PDHA1 | c.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) | |
| X | g.19359558C>G | CA412396694 | PDHA1 | c.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) | |
| X | g.19359558C>T | CA412396692 | PDHA1 | c.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) | |
| X | g.19359559C>A | CA412396697 | PDHA1 | c.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) | |
| X | g.19359559C>G | CA412396700 | PDHA1 | c.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) | |
| X | g.19359559C>T | CA412396704 | PDHA1 | c.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) | |
| X | g.19359560T>A | CA515486442 | PDHA1 | c.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=) | |
| X | g.19359560T>C | CA515486443 | PDHA1 | c.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=) | |
| X | g.19359560T>G | CA515486444 | PDHA1 | c.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=) | |
| X | g.19359561T>A | CA412396713 | PDHA1 | c.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) | |
| X | g.19359561T>C | CA515486445 | PDHA1 | c.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=) | |
| X | g.19359561T>G | CA412396714 | PDHA1 | c.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) | |
| X | g.19359562T>A | CA412396719 | PDHA1 | c.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) | |
| X | g.19359562T>C | CA412396721 | PDHA1 | c.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) | |
| X | g.19359562T>G | CA412396722 | PDHA1 | c.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) | |
| X | g.19359563G>A | CA10363210 | PDHA1 | c.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 |
| X | g.19359563G>C | CA412396728 | PDHA1 | c.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) | |
| X | g.19359563G= | CA2418225590 | PDHA1 | c.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=) | |
| X | g.19359563G>T | CA412396732 | PDHA1 | c.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) | |
| X | g.19359563_19359582dup | CA2695231671 | PDHA1 | c.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?) | |
| X | g.19359564G>A | CA412396741 | PDHA1 | c.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) | |
| X | g.19359564G>C | CA412396735 | PDHA1 | c.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 |
| X | g.19359564G= | CA2418225591 | PDHA1 | c.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=) | |
| X | g.19359564G>T | CA412396738 | PDHA1 | c.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) | |
| X | g.19359565A>C | CA412396746 | PDHA1 | c.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) | |
| X | g.19359565A>G | CA412396748 | PDHA1 | c.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) | |
| X | g.19359565A>T | CA412396752 | PDHA1 | c.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) | |
| X | g.19359566A>C | CA412396753 | PDHA1 | c.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) | |
| X | g.19359566A>G | CA515486446 | PDHA1 | c.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=) | |
| X | g.19359566A>T | CA412396756 | PDHA1 | c.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) |