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) | |
X | g.19359567G>A | CA412396760 | PDHA1 | c.1108G>A (p.Glu370Lys) c.*779G>A (n.*779G>A) c.1171G>A (p.Glu391Lys) c.1201G>A (p.Glu401Lys) n.882G>A c.*419G>A (n.*419G>A) c.*542G>A (n.*542G>A) c.1087G>A (p.Glu363Lys) c.244G>A (p.Glu82Lys) n.526G>A c.994G>A (p.Glu332Lys) c.1222G>A (p.Glu408Lys) c.1129G>A (p.Glu377Lys) | |
X | g.19359567G>C | CA412396762 | PDHA1 | c.1108G>C (p.Glu370Gln) c.*779G>C (n.*779G>C) c.1171G>C (p.Glu391Gln) c.1201G>C (p.Glu401Gln) n.882G>C c.*419G>C (n.*419G>C) c.*542G>C (n.*542G>C) c.1087G>C (p.Glu363Gln) c.244G>C (p.Glu82Gln) n.526G>C c.994G>C (p.Glu332Gln) c.1222G>C (p.Glu408Gln) c.1129G>C (p.Glu377Gln) | |
X | g.19359567G>T | CA412396765 | PDHA1 | c.1108G>T (p.Glu370Ter) c.*779G>T (n.*779G>T) c.1171G>T (p.Glu391Ter) c.1201G>T (p.Glu401Ter) n.882G>T c.*419G>T (n.*419G>T) c.*542G>T (n.*542G>T) c.1087G>T (p.Glu363Ter) c.244G>T (p.Glu82Ter) n.526G>T c.994G>T (p.Glu332Ter) c.1222G>T (p.Glu408Ter) c.1129G>T (p.Glu377Ter) | |
X | g.19359568A>C | CA412396769 | PDHA1 | c.1109A>C (p.Glu370Ala) c.*780A>C (n.*780A>C) c.1172A>C (p.Glu391Ala) c.1202A>C (p.Glu401Ala) n.883A>C c.*420A>C (n.*420A>C) c.*543A>C (n.*543A>C) c.1088A>C (p.Glu363Ala) c.245A>C (p.Glu82Ala) n.527A>C c.995A>C (p.Glu332Ala) c.1223A>C (p.Glu408Ala) c.1130A>C (p.Glu377Ala) | |
X | g.19359568A>G | CA412396773 | PDHA1 | c.1109A>G (p.Glu370Gly) c.*780A>G (n.*780A>G) c.1172A>G (p.Glu391Gly) c.1202A>G (p.Glu401Gly) n.883A>G c.*420A>G (n.*420A>G) c.*543A>G (n.*543A>G) c.1088A>G (p.Glu363Gly) c.245A>G (p.Glu82Gly) n.527A>G c.995A>G (p.Glu332Gly) c.1223A>G (p.Glu408Gly) c.1130A>G (p.Glu377Gly) | |
X | g.19359568A>T | CA412396776 | PDHA1 | c.1109A>T (p.Glu370Val) c.*780A>T (n.*780A>T) c.1172A>T (p.Glu391Val) c.1202A>T (p.Glu401Val) n.883A>T c.*420A>T (n.*420A>T) c.*543A>T (n.*543A>T) c.1088A>T (p.Glu363Val) c.245A>T (p.Glu82Val) n.527A>T c.995A>T (p.Glu332Val) c.1223A>T (p.Glu408Val) c.1130A>T (p.Glu377Val) | |
X | g.19359569G>A | CA515486447 | PDHA1 | c.1110G>A (p.Glu370=) c.*781G>A (n.*781G>A) c.1173G>A (p.Glu391=) c.1203G>A (p.Glu401=) n.884G>A c.*421G>A (n.*421G>A) c.*544G>A (n.*544G>A) c.1089G>A (p.Glu363=) c.246G>A (p.Glu82=) n.528G>A c.996G>A (p.Glu332=) c.1224G>A (p.Glu408=) c.1131G>A (p.Glu377=) | |
X | g.19359569G>C | CA412396783 | PDHA1 | c.1110G>C (p.Glu370Asp) c.*781G>C (n.*781G>C) c.1173G>C (p.Glu391Asp) c.1203G>C (p.Glu401Asp) n.884G>C c.*421G>C (n.*421G>C) c.*544G>C (n.*544G>C) c.1089G>C (p.Glu363Asp) c.246G>C (p.Glu82Asp) n.528G>C c.996G>C (p.Glu332Asp) c.1224G>C (p.Glu408Asp) c.1131G>C (p.Glu377Asp) | dbSNP gnomAD v2 |
X | g.19359569G= | CA2418225592 | PDHA1 | c.1110G= (p.Glu370=) c.*781G= (n.*781G=) c.1173G= (p.Glu391=) c.1203G= (p.Glu401=) n.884G= c.*421G= (n.*421G=) c.*544G= (n.*544G=) c.1089G= (p.Glu363=) c.246G= (p.Glu82=) n.528G= c.996G= (p.Glu332=) c.1224G= (p.Glu408=) c.1131G= (p.Glu377=) | |
X | g.19359569G>T | CA412396780 | PDHA1 | c.1110G>T (p.Glu370Asp) c.*781G>T (n.*781G>T) c.1173G>T (p.Glu391Asp) c.1203G>T (p.Glu401Asp) n.884G>T c.*421G>T (n.*421G>T) c.*544G>T (n.*544G>T) c.1089G>T (p.Glu363Asp) c.246G>T (p.Glu82Asp) n.528G>T c.996G>T (p.Glu332Asp) c.1224G>T (p.Glu408Asp) c.1131G>T (p.Glu377Asp) | |
X | g.19359570C>A | CA412396786 | PDHA1 | c.1111C>A (p.Leu371Met) c.*782C>A (n.*782C>A) c.1174C>A (p.Leu392Met) c.1204C>A (p.Leu402Met) n.885C>A c.*422C>A (n.*422C>A) c.*545C>A (n.*545C>A) c.1090C>A (p.Leu364Met) c.247C>A (p.Leu83Met) n.529C>A c.997C>A (p.Leu333Met) c.1225C>A (p.Leu409Met) c.1132C>A (p.Leu378Met) | |
X | g.19359570C>G | CA412396800 | PDHA1 | c.1111C>G (p.Leu371Val) c.*782C>G (n.*782C>G) c.1174C>G (p.Leu392Val) c.1204C>G (p.Leu402Val) n.885C>G c.*422C>G (n.*422C>G) c.*545C>G (n.*545C>G) c.1090C>G (p.Leu364Val) c.247C>G (p.Leu83Val) n.529C>G c.997C>G (p.Leu333Val) c.1225C>G (p.Leu409Val) c.1132C>G (p.Leu378Val) | |
X | g.19359570C>T | CA515486448 | PDHA1 | c.1111C>T (p.Leu371=) c.*782C>T (n.*782C>T) c.1174C>T (p.Leu392=) c.1204C>T (p.Leu402=) n.885C>T c.*422C>T (n.*422C>T) c.*545C>T (n.*545C>T) c.1090C>T (p.Leu364=) c.247C>T (p.Leu83=) n.529C>T c.997C>T (p.Leu333=) c.1225C>T (p.Leu409=) c.1132C>T (p.Leu378=) | |
X | g.19359571T>A | CA412396804 | PDHA1 | c.1112T>A (p.Leu371Gln) c.*783T>A (n.*783T>A) c.1175T>A (p.Leu392Gln) c.1205T>A (p.Leu402Gln) n.886T>A c.*423T>A (n.*423T>A) c.*546T>A (n.*546T>A) c.1091T>A (p.Leu364Gln) c.248T>A (p.Leu83Gln) n.530T>A c.998T>A (p.Leu333Gln) c.1226T>A (p.Leu409Gln) c.1133T>A (p.Leu378Gln) | |
X | g.19359571T>C | CA412396807 | PDHA1 | c.1112T>C (p.Leu371Pro) c.*783T>C (n.*783T>C) c.1175T>C (p.Leu392Pro) c.1205T>C (p.Leu402Pro) n.886T>C c.*423T>C (n.*423T>C) c.*546T>C (n.*546T>C) c.1091T>C (p.Leu364Pro) c.248T>C (p.Leu83Pro) n.530T>C c.998T>C (p.Leu333Pro) c.1226T>C (p.Leu409Pro) c.1133T>C (p.Leu378Pro) | |
X | g.19359571T>G | CA412396809 | PDHA1 | c.1112T>G (p.Leu371Arg) c.*783T>G (n.*783T>G) c.1175T>G (p.Leu392Arg) c.1205T>G (p.Leu402Arg) n.886T>G c.*423T>G (n.*423T>G) c.*546T>G (n.*546T>G) c.1091T>G (p.Leu364Arg) c.248T>G (p.Leu83Arg) n.530T>G c.998T>G (p.Leu333Arg) c.1226T>G (p.Leu409Arg) c.1133T>G (p.Leu378Arg) | ClinVar |
X | g.19359572G>A | CA515486451 | PDHA1 | c.1113G>A (p.Leu371=) c.*784G>A (n.*784G>A) c.1176G>A (p.Leu392=) c.1206G>A (p.Leu402=) n.887G>A c.*424G>A (n.*424G>A) c.*547G>A (n.*547G>A) c.1092G>A (p.Leu364=) c.249G>A (p.Leu83=) n.531G>A c.999G>A (p.Leu333=) c.1227G>A (p.Leu409=) c.1134G>A (p.Leu378=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359572G>C | CA515486449 | PDHA1 | c.1113G>C (p.Leu371=) c.*784G>C (n.*784G>C) c.1176G>C (p.Leu392=) c.1206G>C (p.Leu402=) n.887G>C c.*424G>C (n.*424G>C) c.*547G>C (n.*547G>C) c.1092G>C (p.Leu364=) c.249G>C (p.Leu83=) n.531G>C c.999G>C (p.Leu333=) c.1227G>C (p.Leu409=) c.1134G>C (p.Leu378=) | |
X | g.19359572G= | CA2418225593 | PDHA1 | c.1113G= (p.Leu371=) c.*784G= (n.*784G=) c.1176G= (p.Leu392=) c.1206G= (p.Leu402=) n.887G= c.*424G= (n.*424G=) c.*547G= (n.*547G=) c.1092G= (p.Leu364=) c.249G= (p.Leu83=) n.531G= c.999G= (p.Leu333=) c.1227G= (p.Leu409=) c.1134G= (p.Leu378=) | |
X | g.19359572G>T | CA515486450 | PDHA1 | c.1113G>T (p.Leu371=) c.*784G>T (n.*784G>T) c.1176G>T (p.Leu392=) c.1206G>T (p.Leu402=) n.887G>T c.*424G>T (n.*424G>T) c.*547G>T (n.*547G>T) c.1092G>T (p.Leu364=) c.249G>T (p.Leu83=) n.531G>T c.999G>T (p.Leu333=) c.1227G>T (p.Leu409=) c.1134G>T (p.Leu378=) | |
X | g.19359572_19359573insAAGAGCTGG | CA2695231672 | PDHA1 | c.1113_1114insAAGAGCTGG (p.Leu371_Gly372insLysSerTrp) c.*784_*785insAAGAGCTGG (n.*784_*785insAAGAGCTGG) c.1176_1177insAAGAGCTGG (p.Leu392_Gly393insLysSerTrp) c.1206_1207insAAGAGCTGG (p.Leu402_Gly403insLysSerTrp) n.887_888insAAGAGCTGG c.*424_*425insAAGAGCTGG (n.*424_*425insAAGAGCTGG) c.*547_*548insAAGAGCTGG (n.*547_*548insAAGAGCTGG) c.1092_1093insAAGAGCTGG (p.Leu364_Gly365insLysSerTrp) c.249_250insAAGAGCTGG (p.Leu83_Gly84insLysSerTrp) n.531_532insAAGAGCTGG c.999_1000insAAGAGCTGG (p.Leu333_Gly334insLysSerTrp) c.1227_1228insAAGAGCTGG (p.Leu409_Gly410insLysSerTrp) c.1134_1135insAAGAGCTGG (p.Leu378_Gly379insLysSerTrp) | |
X | g.19359573G>A | CA412396823 | PDHA1 | c.1114G>A (p.Gly372Ser) c.*785G>A (n.*785G>A) c.1177G>A (p.Gly393Ser) c.1207G>A (p.Gly403Ser) n.888G>A c.*425G>A (n.*425G>A) c.*548G>A (n.*548G>A) c.1093G>A (p.Gly365Ser) c.250G>A (p.Gly84Ser) n.532G>A c.1000G>A (p.Gly334Ser) c.1228G>A (p.Gly410Ser) c.1135G>A (p.Gly379Ser) | |
X | g.19359573G>C | CA412396819 | PDHA1 | c.1114G>C (p.Gly372Arg) c.*785G>C (n.*785G>C) c.1177G>C (p.Gly393Arg) c.1207G>C (p.Gly403Arg) n.888G>C c.*425G>C (n.*425G>C) c.*548G>C (n.*548G>C) c.1093G>C (p.Gly365Arg) c.250G>C (p.Gly84Arg) n.532G>C c.1000G>C (p.Gly334Arg) c.1228G>C (p.Gly410Arg) c.1135G>C (p.Gly379Arg) | |
X | g.19359573G>T | CA412396815 | PDHA1 | c.1114G>T (p.Gly372Cys) c.*785G>T (n.*785G>T) c.1177G>T (p.Gly393Cys) c.1207G>T (p.Gly403Cys) n.888G>T c.*425G>T (n.*425G>T) c.*548G>T (n.*548G>T) c.1093G>T (p.Gly365Cys) c.250G>T (p.Gly84Cys) n.532G>T c.1000G>T (p.Gly334Cys) c.1228G>T (p.Gly410Cys) c.1135G>T (p.Gly379Cys) | |
X | g.19359574G>A | CA412396827 | PDHA1 | c.1115G>A (p.Gly372Asp) c.*786G>A (n.*786G>A) c.1178G>A (p.Gly393Asp) c.1208G>A (p.Gly403Asp) n.889G>A c.*426G>A (n.*426G>A) c.*549G>A (n.*549G>A) c.1094G>A (p.Gly365Asp) c.251G>A (p.Gly84Asp) n.533G>A c.1001G>A (p.Gly334Asp) c.1229G>A (p.Gly410Asp) c.1136G>A (p.Gly379Asp) | |
X | g.19359574G>C | CA412396830 | PDHA1 | c.1115G>C (p.Gly372Ala) c.*786G>C (n.*786G>C) c.1178G>C (p.Gly393Ala) c.1208G>C (p.Gly403Ala) n.889G>C c.*426G>C (n.*426G>C) c.*549G>C (n.*549G>C) c.1094G>C (p.Gly365Ala) c.251G>C (p.Gly84Ala) n.533G>C c.1001G>C (p.Gly334Ala) c.1229G>C (p.Gly410Ala) c.1136G>C (p.Gly379Ala) | gnomAD v4 |
X | g.19359574G>T | CA412396831 | PDHA1 | c.1115G>T (p.Gly372Val) c.*786G>T (n.*786G>T) c.1178G>T (p.Gly393Val) c.1208G>T (p.Gly403Val) n.889G>T c.*426G>T (n.*426G>T) c.*549G>T (n.*549G>T) c.1094G>T (p.Gly365Val) c.251G>T (p.Gly84Val) n.533G>T c.1001G>T (p.Gly334Val) c.1229G>T (p.Gly410Val) c.1136G>T (p.Gly379Val) | |
X | g.19359575C>A | CA515486452 | PDHA1 | c.1116C>A (p.Gly372=) c.*787C>A (n.*787C>A) c.1179C>A (p.Gly393=) c.1209C>A (p.Gly403=) n.890C>A c.*427C>A (n.*427C>A) c.*550C>A (n.*550C>A) c.1095C>A (p.Gly365=) c.252C>A (p.Gly84=) n.534C>A c.1002C>A (p.Gly334=) c.1230C>A (p.Gly410=) c.1137C>A (p.Gly379=) | |
X | g.19359575C>G | CA515486453 | PDHA1 | c.1116C>G (p.Gly372=) c.*787C>G (n.*787C>G) c.1179C>G (p.Gly393=) c.1209C>G (p.Gly403=) n.890C>G c.*427C>G (n.*427C>G) c.*550C>G (n.*550C>G) c.1095C>G (p.Gly365=) c.252C>G (p.Gly84=) n.534C>G c.1002C>G (p.Gly334=) c.1230C>G (p.Gly410=) c.1137C>G (p.Gly379=) | |
X | g.19359575C>T | CA515486454 | PDHA1 | c.1116C>T (p.Gly372=) c.*787C>T (n.*787C>T) c.1179C>T (p.Gly393=) c.1209C>T (p.Gly403=) n.890C>T c.*427C>T (n.*427C>T) c.*550C>T (n.*550C>T) c.1095C>T (p.Gly365=) c.252C>T (p.Gly84=) n.534C>T c.1002C>T (p.Gly334=) c.1230C>T (p.Gly410=) c.1137C>T (p.Gly379=) | |
X | g.19359576T>A | CA412396832 | PDHA1 | c.1117T>A (p.Tyr373Asn) c.*788T>A (n.*788T>A) c.1180T>A (p.Tyr394Asn) c.1210T>A (p.Tyr404Asn) n.891T>A c.*428T>A (n.*428T>A) c.*551T>A (n.*551T>A) c.1096T>A (p.Tyr366Asn) c.253T>A (p.Tyr85Asn) n.535T>A c.1003T>A (p.Tyr335Asn) c.1231T>A (p.Tyr411Asn) c.1138T>A (p.Tyr380Asn) | |
X | g.19359576T>C | CA412396834 | PDHA1 | c.1117T>C (p.Tyr373His) c.*788T>C (n.*788T>C) c.1180T>C (p.Tyr394His) c.1210T>C (p.Tyr404His) n.891T>C c.*428T>C (n.*428T>C) c.*551T>C (n.*551T>C) c.1096T>C (p.Tyr366His) c.253T>C (p.Tyr85His) n.535T>C c.1003T>C (p.Tyr335His) c.1231T>C (p.Tyr411His) c.1138T>C (p.Tyr380His) | |
X | g.19359576T>G | CA412396835 | PDHA1 | c.1117T>G (p.Tyr373Asp) c.*788T>G (n.*788T>G) c.1180T>G (p.Tyr394Asp) c.1210T>G (p.Tyr404Asp) n.891T>G c.*428T>G (n.*428T>G) c.*551T>G (n.*551T>G) c.1096T>G (p.Tyr366Asp) c.253T>G (p.Tyr85Asp) n.535T>G c.1003T>G (p.Tyr335Asp) c.1231T>G (p.Tyr411Asp) c.1138T>G (p.Tyr380Asp) | |
X | g.19359577A>C | CA412396837 | PDHA1 | c.1118A>C (p.Tyr373Ser) c.*789A>C (n.*789A>C) c.1181A>C (p.Tyr394Ser) c.1211A>C (p.Tyr404Ser) n.892A>C c.*429A>C (n.*429A>C) c.*552A>C (n.*552A>C) c.1097A>C (p.Tyr366Ser) c.254A>C (p.Tyr85Ser) n.536A>C c.1004A>C (p.Tyr335Ser) c.1232A>C (p.Tyr411Ser) c.1139A>C (p.Tyr380Ser) | |
X | g.19359577A>G | CA412396843 | PDHA1 | c.1118A>G (p.Tyr373Cys) c.*789A>G (n.*789A>G) c.1181A>G (p.Tyr394Cys) c.1211A>G (p.Tyr404Cys) n.892A>G c.*429A>G (n.*429A>G) c.*552A>G (n.*552A>G) c.1097A>G (p.Tyr366Cys) c.254A>G (p.Tyr85Cys) n.536A>G c.1004A>G (p.Tyr335Cys) c.1232A>G (p.Tyr411Cys) c.1139A>G (p.Tyr380Cys) | |
X | g.19359577A>T | CA412396839 | PDHA1 | c.1118A>T (p.Tyr373Phe) c.*789A>T (n.*789A>T) c.1181A>T (p.Tyr394Phe) c.1211A>T (p.Tyr404Phe) n.892A>T c.*429A>T (n.*429A>T) c.*552A>T (n.*552A>T) c.1097A>T (p.Tyr366Phe) c.254A>T (p.Tyr85Phe) n.536A>T c.1004A>T (p.Tyr335Phe) c.1232A>T (p.Tyr411Phe) c.1139A>T (p.Tyr380Phe) | |
X | g.19359578C>A | CA412396847 | PDHA1 | c.1119C>A (p.Tyr373Ter) c.*790C>A (n.*790C>A) c.1182C>A (p.Tyr394Ter) c.1212C>A (p.Tyr404Ter) n.893C>A c.*430C>A (n.*430C>A) c.*553C>A (n.*553C>A) c.1098C>A (p.Tyr366Ter) c.255C>A (p.Tyr85Ter) n.537C>A c.1005C>A (p.Tyr335Ter) c.1233C>A (p.Tyr411Ter) c.1140C>A (p.Tyr380Ter) | ClinVar dbSNP |
X | g.19359578C= | CA2418225594 | PDHA1 | c.1119C= (p.Tyr373=) c.*790C= (n.*790C=) c.1182C= (p.Tyr394=) c.1212C= (p.Tyr404=) n.893C= c.*430C= (n.*430C=) c.*553C= (n.*553C=) c.1098C= (p.Tyr366=) c.255C= (p.Tyr85=) n.537C= c.1005C= (p.Tyr335=) c.1233C= (p.Tyr411=) c.1140C= (p.Tyr380=) | |
X | g.19359578C>G | CA412396849 | PDHA1 | c.1119C>G (p.Tyr373Ter) c.*790C>G (n.*790C>G) c.1182C>G (p.Tyr394Ter) c.1212C>G (p.Tyr404Ter) n.893C>G c.*430C>G (n.*430C>G) c.*553C>G (n.*553C>G) c.1098C>G (p.Tyr366Ter) c.255C>G (p.Tyr85Ter) n.537C>G c.1005C>G (p.Tyr335Ter) c.1233C>G (p.Tyr411Ter) c.1140C>G (p.Tyr380Ter) | |
X | g.19359578C>T | CA515486455 | PDHA1 | c.1119C>T (p.Tyr373=) c.*790C>T (n.*790C>T) c.1182C>T (p.Tyr394=) c.1212C>T (p.Tyr404=) n.893C>T c.*430C>T (n.*430C>T) c.*553C>T (n.*553C>T) c.1098C>T (p.Tyr366=) c.255C>T (p.Tyr85=) n.537C>T c.1005C>T (p.Tyr335=) c.1233C>T (p.Tyr411=) c.1140C>T (p.Tyr380=) | |
X | g.19359579del | CA2527477704 | PDHA1 | c.1120del (p.His374ThrfsTer?) c.*791del (n.*791del) c.1183del (p.His395ThrfsTer?) c.1213del (p.His405ThrfsTer?) n.894del c.*431del (n.*431del) c.*554del (n.*554del) c.1099del (p.His367ThrfsTer?) c.256del (p.His86ThrfsTer?) n.538del c.1006del (p.His336ThrfsTer?) c.1234del (p.His412ThrfsTer?) c.1141del (p.His381ThrfsTer?) | |
X | g.19359579C>A | CA412396852 | PDHA1 | c.1120C>A (p.His374Asn) c.*791C>A (n.*791C>A) c.1183C>A (p.His395Asn) c.1213C>A (p.His405Asn) n.894C>A c.*431C>A (n.*431C>A) c.*554C>A (n.*554C>A) c.1099C>A (p.His367Asn) c.256C>A (p.His86Asn) n.538C>A c.1006C>A (p.His336Asn) c.1234C>A (p.His412Asn) c.1141C>A (p.His381Asn) | gnomAD v3 gnomAD v4 |
X | g.19359579C= | CA2418225595 | PDHA1 | c.1120C= (p.His374=) c.*791C= (n.*791C=) c.1183C= (p.His395=) c.1213C= (p.His405=) n.894C= c.*431C= (n.*431C=) c.*554C= (n.*554C=) c.1099C= (p.His367=) c.256C= (p.His86=) n.538C= c.1006C= (p.His336=) c.1234C= (p.His412=) c.1141C= (p.His381=) | |
X | g.19359579C>G | CA412396853 | PDHA1 | c.1120C>G (p.His374Asp) c.*791C>G (n.*791C>G) c.1183C>G (p.His395Asp) c.1213C>G (p.His405Asp) n.894C>G c.*431C>G (n.*431C>G) c.*554C>G (n.*554C>G) c.1099C>G (p.His367Asp) c.256C>G (p.His86Asp) n.538C>G c.1006C>G (p.His336Asp) c.1234C>G (p.His412Asp) c.1141C>G (p.His381Asp) | |
X | g.19359579C>T | CA412396858 | PDHA1 | c.1120C>T (p.His374Tyr) c.*791C>T (n.*791C>T) c.1183C>T (p.His395Tyr) c.1213C>T (p.His405Tyr) n.894C>T c.*431C>T (n.*431C>T) c.*554C>T (n.*554C>T) c.1099C>T (p.His367Tyr) c.256C>T (p.His86Tyr) n.538C>T c.1006C>T (p.His336Tyr) c.1234C>T (p.His412Tyr) c.1141C>T (p.His381Tyr) | ClinVar dbSNP |
X | g.19359580A= | CA2418225596 | PDHA1 | c.1121A= (p.His374=) c.*792A= (n.*792A=) c.1184A= (p.His395=) c.1214A= (p.His405=) n.895A= c.*432A= (n.*432A=) c.*555A= (n.*555A=) c.1100A= (p.His367=) c.257A= (p.His86=) n.539A= c.1007A= (p.His336=) c.1235A= (p.His412=) c.1142A= (p.His381=) | |
X | g.19359580A>C | CA412396862 | PDHA1 | c.1121A>C (p.His374Pro) c.*792A>C (n.*792A>C) c.1184A>C (p.His395Pro) c.1214A>C (p.His405Pro) n.895A>C c.*432A>C (n.*432A>C) c.*555A>C (n.*555A>C) c.1100A>C (p.His367Pro) c.257A>C (p.His86Pro) n.539A>C c.1007A>C (p.His336Pro) c.1235A>C (p.His412Pro) c.1142A>C (p.His381Pro) | ClinVar dbSNP |
X | g.19359580A>G | CA412396866 | PDHA1 | c.1121A>G (p.His374Arg) c.*792A>G (n.*792A>G) c.1184A>G (p.His395Arg) c.1214A>G (p.His405Arg) n.895A>G c.*432A>G (n.*432A>G) c.*555A>G (n.*555A>G) c.1100A>G (p.His367Arg) c.257A>G (p.His86Arg) n.539A>G c.1007A>G (p.His336Arg) c.1235A>G (p.His412Arg) c.1142A>G (p.His381Arg) | |
X | g.19359580A>T | CA412396868 | PDHA1 | c.1121A>T (p.His374Leu) c.*792A>T (n.*792A>T) c.1184A>T (p.His395Leu) c.1214A>T (p.His405Leu) n.895A>T c.*432A>T (n.*432A>T) c.*555A>T (n.*555A>T) c.1100A>T (p.His367Leu) c.257A>T (p.His86Leu) n.539A>T c.1007A>T (p.His336Leu) c.1235A>T (p.His412Leu) c.1142A>T (p.His381Leu) | ClinVar dbSNP |
X | g.19359581C>A | CA412396872 | PDHA1 | c.1122C>A (p.His374Gln) c.*793C>A (n.*793C>A) c.1185C>A (p.His395Gln) c.1215C>A (p.His405Gln) n.896C>A c.*433C>A (n.*433C>A) c.*556C>A (n.*556C>A) c.1101C>A (p.His367Gln) c.258C>A (p.His86Gln) n.540C>A c.1008C>A (p.His336Gln) c.1236C>A (p.His412Gln) c.1143C>A (p.His381Gln) | |
X | g.19359581C>G | CA412396874 | PDHA1 | c.1122C>G (p.His374Gln) c.*793C>G (n.*793C>G) c.1185C>G (p.His395Gln) c.1215C>G (p.His405Gln) n.896C>G c.*433C>G (n.*433C>G) c.*556C>G (n.*556C>G) c.1101C>G (p.His367Gln) c.258C>G (p.His86Gln) n.540C>G c.1008C>G (p.His336Gln) c.1236C>G (p.His412Gln) c.1143C>G (p.His381Gln) | |
X | g.19359581C>T | CA515486456 | PDHA1 | c.1122C>T (p.His374=) c.*793C>T (n.*793C>T) c.1185C>T (p.His395=) c.1215C>T (p.His405=) n.896C>T c.*433C>T (n.*433C>T) c.*556C>T (n.*556C>T) c.1101C>T (p.His367=) c.258C>T (p.His86=) n.540C>T c.1008C>T (p.His336=) c.1236C>T (p.His412=) c.1143C>T (p.His381=) | gnomAD v4 |
X | g.19359582A= | CA2418225597 | PDHA1 | c.1123A= (p.Ile375=) c.*794A= (n.*794A=) c.1186A= (p.Ile396=) c.1216A= (p.Ile406=) n.897A= c.*434A= (n.*434A=) c.*557A= (n.*557A=) c.1102A= (p.Ile368=) c.259A= (p.Ile87=) n.541A= c.1009A= (p.Ile337=) c.1237A= (p.Ile413=) c.1144A= (p.Ile382=) | |
X | g.19359582A>C | CA10363211 | PDHA1 | c.1123A>C (p.Ile375Leu) c.*794A>C (n.*794A>C) c.1186A>C (p.Ile396Leu) c.1216A>C (p.Ile406Leu) n.897A>C c.*434A>C (n.*434A>C) c.*557A>C (n.*557A>C) c.1102A>C (p.Ile368Leu) c.259A>C (p.Ile87Leu) n.541A>C c.1009A>C (p.Ile337Leu) c.1237A>C (p.Ile413Leu) c.1144A>C (p.Ile382Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359582A>G | CA412396882 | PDHA1 | c.1123A>G (p.Ile375Val) c.*794A>G (n.*794A>G) c.1186A>G (p.Ile396Val) c.1216A>G (p.Ile406Val) n.897A>G c.*434A>G (n.*434A>G) c.*557A>G (n.*557A>G) c.1102A>G (p.Ile368Val) c.259A>G (p.Ile87Val) n.541A>G c.1009A>G (p.Ile337Val) c.1237A>G (p.Ile413Val) c.1144A>G (p.Ile382Val) | gnomAD v4 |
X | g.19359582A>T | CA412396879 | PDHA1 | c.1123A>T (p.Ile375Phe) c.*794A>T (n.*794A>T) c.1186A>T (p.Ile396Phe) c.1216A>T (p.Ile406Phe) n.897A>T c.*434A>T (n.*434A>T) c.*557A>T (n.*557A>T) c.1102A>T (p.Ile368Phe) c.259A>T (p.Ile87Phe) n.541A>T c.1009A>T (p.Ile337Phe) c.1237A>T (p.Ile413Phe) c.1144A>T (p.Ile382Phe) | |
X | g.19359583T>A | CA412396890 | PDHA1 | c.1124T>A (p.Ile375Asn) c.*795T>A (n.*795T>A) c.1187T>A (p.Ile396Asn) c.1217T>A (p.Ile406Asn) n.898T>A c.*435T>A (n.*435T>A) c.*558T>A (n.*558T>A) c.1103T>A (p.Ile368Asn) c.260T>A (p.Ile87Asn) n.542T>A c.1010T>A (p.Ile337Asn) c.1238T>A (p.Ile413Asn) c.1145T>A (p.Ile382Asn) | |
X | g.19359583T>C | CA412396895 | PDHA1 | c.1124T>C (p.Ile375Thr) c.*795T>C (n.*795T>C) c.1187T>C (p.Ile396Thr) c.1217T>C (p.Ile406Thr) n.898T>C c.*435T>C (n.*435T>C) c.*558T>C (n.*558T>C) c.1103T>C (p.Ile368Thr) c.260T>C (p.Ile87Thr) n.542T>C c.1010T>C (p.Ile337Thr) c.1238T>C (p.Ile413Thr) c.1145T>C (p.Ile382Thr) | |
X | g.19359583T>G | CA412396892 | PDHA1 | c.1124T>G (p.Ile375Ser) c.*795T>G (n.*795T>G) c.1187T>G (p.Ile396Ser) c.1217T>G (p.Ile406Ser) n.898T>G c.*435T>G (n.*435T>G) c.*558T>G (n.*558T>G) c.1103T>G (p.Ile368Ser) c.260T>G (p.Ile87Ser) n.542T>G c.1010T>G (p.Ile337Ser) c.1238T>G (p.Ile413Ser) c.1145T>G (p.Ile382Ser) | |
X | g.19359583_19359588dup | CA2580100440 | PDHA1 | c.1124_1129dup (p.Tyr376_Ser377insPheTyr) c.*795_*800dup (n.*795_*800dup) c.1187_1192dup (p.Tyr397_Ser398insPheTyr) c.1217_1222dup (p.Tyr407_Ser408insPheTyr) n.898_903dup c.*435_*440dup (n.*435_*440dup) c.*558_*563dup (n.*558_*563dup) c.1103_1108dup (p.Tyr369_Ser370insPheTyr) c.260_265dup (p.Tyr88_Ser89insPheTyr) n.542_547dup c.1010_1015dup (p.Tyr338_Ser339insPheTyr) c.1238_1243dup (p.Tyr414_Ser415insPheTyr) c.1145_1150dup (p.Tyr383_Ser384insPheTyr) | ClinVar |
X | g.19359584C>A | CA515486457 | PDHA1 | c.1125C>A (p.Ile375=) c.*796C>A (n.*796C>A) c.1188C>A (p.Ile396=) c.1218C>A (p.Ile406=) n.899C>A c.*436C>A (n.*436C>A) c.*559C>A (n.*559C>A) c.1104C>A (p.Ile368=) c.261C>A (p.Ile87=) n.543C>A c.1011C>A (p.Ile337=) c.1239C>A (p.Ile413=) c.1146C>A (p.Ile382=) | |
X | g.19359584C>G | CA412396898 | PDHA1 | c.1125C>G (p.Ile375Met) c.*796C>G (n.*796C>G) c.1188C>G (p.Ile396Met) c.1218C>G (p.Ile406Met) n.899C>G c.*436C>G (n.*436C>G) c.*559C>G (n.*559C>G) c.1104C>G (p.Ile368Met) c.261C>G (p.Ile87Met) n.543C>G c.1011C>G (p.Ile337Met) c.1239C>G (p.Ile413Met) c.1146C>G (p.Ile382Met) | |
X | g.19359584C>T | CA515486458 | PDHA1 | c.1125C>T (p.Ile375=) c.*796C>T (n.*796C>T) c.1188C>T (p.Ile396=) c.1218C>T (p.Ile406=) n.899C>T c.*436C>T (n.*436C>T) c.*559C>T (n.*559C>T) c.1104C>T (p.Ile368=) c.261C>T (p.Ile87=) n.543C>T c.1011C>T (p.Ile337=) c.1239C>T (p.Ile413=) c.1146C>T (p.Ile382=) | |
X | g.19359585T>A | CA412396903 | PDHA1 | c.1126T>A (p.Tyr376Asn) c.*797T>A (n.*797T>A) c.1189T>A (p.Tyr397Asn) c.1219T>A (p.Tyr407Asn) n.900T>A c.*437T>A (n.*437T>A) c.*560T>A (n.*560T>A) c.1105T>A (p.Tyr369Asn) c.262T>A (p.Tyr88Asn) n.544T>A c.1012T>A (p.Tyr338Asn) c.1240T>A (p.Tyr414Asn) c.1147T>A (p.Tyr383Asn) | |
X | g.19359585T>C | CA412396907 | PDHA1 | c.1126T>C (p.Tyr376His) c.*797T>C (n.*797T>C) c.1189T>C (p.Tyr397His) c.1219T>C (p.Tyr407His) n.900T>C c.*437T>C (n.*437T>C) c.*560T>C (n.*560T>C) c.1105T>C (p.Tyr369His) c.262T>C (p.Tyr88His) n.544T>C c.1012T>C (p.Tyr338His) c.1240T>C (p.Tyr414His) c.1147T>C (p.Tyr383His) | |
X | g.19359585T>G | CA412396910 | PDHA1 | c.1126T>G (p.Tyr376Asp) c.*797T>G (n.*797T>G) c.1189T>G (p.Tyr397Asp) c.1219T>G (p.Tyr407Asp) n.900T>G c.*437T>G (n.*437T>G) c.*560T>G (n.*560T>G) c.1105T>G (p.Tyr369Asp) c.262T>G (p.Tyr88Asp) n.544T>G c.1012T>G (p.Tyr338Asp) c.1240T>G (p.Tyr414Asp) c.1147T>G (p.Tyr383Asp) | |
X | g.19359585_19359587delinsCAA | CA2695231673 | PDHA1 | c.1126_1128delinsCAA (p.Tyr376Gln) c.*797_*799delinsCAA (n.*797_*799delinsCAA) c.1189_1191delinsCAA (p.Tyr397Gln) c.1219_1221delinsCAA (p.Tyr407Gln) n.900_902delinsCAA c.*437_*439delinsCAA (n.*437_*439delinsCAA) c.*560_*562delinsCAA (n.*560_*562delinsCAA) c.1105_1107delinsCAA (p.Tyr369Gln) c.262_264delinsCAA (p.Tyr88Gln) n.544_546delinsCAA c.1012_1014delinsCAA (p.Tyr338Gln) c.1240_1242delinsCAA (p.Tyr414Gln) c.1147_1149delinsCAA (p.Tyr383Gln) | |
X | g.19359586A>C | CA412396914 | PDHA1 | c.1127A>C (p.Tyr376Ser) c.*798A>C (n.*798A>C) c.1190A>C (p.Tyr397Ser) c.1220A>C (p.Tyr407Ser) n.901A>C c.*438A>C (n.*438A>C) c.*561A>C (n.*561A>C) c.1106A>C (p.Tyr369Ser) c.263A>C (p.Tyr88Ser) n.545A>C c.1013A>C (p.Tyr338Ser) c.1241A>C (p.Tyr414Ser) c.1148A>C (p.Tyr383Ser) | |
X | g.19359586A>G | CA412396916 | PDHA1 | c.1127A>G (p.Tyr376Cys) c.*798A>G (n.*798A>G) c.1190A>G (p.Tyr397Cys) c.1220A>G (p.Tyr407Cys) n.901A>G c.*438A>G (n.*438A>G) c.*561A>G (n.*561A>G) c.1106A>G (p.Tyr369Cys) c.263A>G (p.Tyr88Cys) n.545A>G c.1013A>G (p.Tyr338Cys) c.1241A>G (p.Tyr414Cys) c.1148A>G (p.Tyr383Cys) | |
X | g.19359586A>T | CA412396919 | PDHA1 | c.1127A>T (p.Tyr376Phe) c.*798A>T (n.*798A>T) c.1190A>T (p.Tyr397Phe) c.1220A>T (p.Tyr407Phe) n.901A>T c.*438A>T (n.*438A>T) c.*561A>T (n.*561A>T) c.1106A>T (p.Tyr369Phe) c.263A>T (p.Tyr88Phe) n.545A>T c.1013A>T (p.Tyr338Phe) c.1241A>T (p.Tyr414Phe) c.1148A>T (p.Tyr383Phe) | |
X | g.19359587C>A | CA412396923 | PDHA1 | c.1128C>A (p.Tyr376Ter) c.*799C>A (n.*799C>A) c.1191C>A (p.Tyr397Ter) c.1221C>A (p.Tyr407Ter) n.902C>A c.*439C>A (n.*439C>A) c.*562C>A (n.*562C>A) c.1107C>A (p.Tyr369Ter) c.264C>A (p.Tyr88Ter) n.546C>A c.1014C>A (p.Tyr338Ter) c.1242C>A (p.Tyr414Ter) c.1149C>A (p.Tyr383Ter) | |
X | g.19359587C= | CA2418225598 | PDHA1 | c.1128C= (p.Tyr376=) c.*799C= (n.*799C=) c.1191C= (p.Tyr397=) c.1221C= (p.Tyr407=) n.902C= c.*439C= (n.*439C=) c.*562C= (n.*562C=) c.1107C= (p.Tyr369=) c.264C= (p.Tyr88=) n.546C= c.1014C= (p.Tyr338=) c.1242C= (p.Tyr414=) c.1149C= (p.Tyr383=) | |
X | g.19359587C>G | CA412396929 | PDHA1 | c.1128C>G (p.Tyr376Ter) c.*799C>G (n.*799C>G) c.1191C>G (p.Tyr397Ter) c.1221C>G (p.Tyr407Ter) n.902C>G c.*439C>G (n.*439C>G) c.*562C>G (n.*562C>G) c.1107C>G (p.Tyr369Ter) c.264C>G (p.Tyr88Ter) n.546C>G c.1014C>G (p.Tyr338Ter) c.1242C>G (p.Tyr414Ter) c.1149C>G (p.Tyr383Ter) | |
X | g.19359587C>T | CA515486459 | PDHA1 | c.1128C>T (p.Tyr376=) c.*799C>T (n.*799C>T) c.1191C>T (p.Tyr397=) c.1221C>T (p.Tyr407=) n.902C>T c.*439C>T (n.*439C>T) c.*562C>T (n.*562C>T) c.1107C>T (p.Tyr369=) c.264C>T (p.Tyr88=) n.546C>T c.1014C>T (p.Tyr338=) c.1242C>T (p.Tyr414=) c.1149C>T (p.Tyr383=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359589_19359602del | CA2580100441 | PDHA1 | c.1130_1143del (p.Ser377PhefsTer2) c.*801_*814del (n.*801_*814del) c.1193_1206del (p.Ser398PhefsTer2) c.1223_1236del (p.Ser408PhefsTer2) n.904_917del c.*441_*454del (n.*441_*454del) c.*564_*577del (n.*564_*577del) c.1109_1122del (p.Ser370PhefsTer2) c.266_279del (p.Ser89PhefsTer2) n.548_561del c.1016_1029del (p.Ser339PhefsTer2) c.1244_1257del (p.Ser415PhefsTer2) c.1151_1164del (p.Ser384PhefsTer2) | ClinVar |
X | g.19359588T>A | CA412396934 | PDHA1 | c.1129T>A (p.Ser377Thr) c.*800T>A (n.*800T>A) c.1192T>A (p.Ser398Thr) c.1222T>A (p.Ser408Thr) n.903T>A c.*440T>A (n.*440T>A) c.*563T>A (n.*563T>A) c.1108T>A (p.Ser370Thr) c.265T>A (p.Ser89Thr) n.547T>A c.1015T>A (p.Ser339Thr) c.1243T>A (p.Ser415Thr) c.1150T>A (p.Ser384Thr) | |
X | g.19359588T>C | CA412396937 | PDHA1 | c.1129T>C (p.Ser377Pro) c.*800T>C (n.*800T>C) c.1192T>C (p.Ser398Pro) c.1222T>C (p.Ser408Pro) n.903T>C c.*440T>C (n.*440T>C) c.*563T>C (n.*563T>C) c.1108T>C (p.Ser370Pro) c.265T>C (p.Ser89Pro) n.547T>C c.1015T>C (p.Ser339Pro) c.1243T>C (p.Ser415Pro) c.1150T>C (p.Ser384Pro) | |
X | g.19359588T>G | CA412396940 | PDHA1 | c.1129T>G (p.Ser377Ala) c.*800T>G (n.*800T>G) c.1192T>G (p.Ser398Ala) c.1222T>G (p.Ser408Ala) n.903T>G c.*440T>G (n.*440T>G) c.*563T>G (n.*563T>G) c.1108T>G (p.Ser370Ala) c.265T>G (p.Ser89Ala) n.547T>G c.1015T>G (p.Ser339Ala) c.1243T>G (p.Ser415Ala) c.1150T>G (p.Ser384Ala) | |
X | g.19359589C>A | CA412396944 | PDHA1 | c.1130C>A (p.Ser377Tyr) c.*801C>A (n.*801C>A) c.1193C>A (p.Ser398Tyr) c.1223C>A (p.Ser408Tyr) n.904C>A c.*441C>A (n.*441C>A) c.*564C>A (n.*564C>A) c.1109C>A (p.Ser370Tyr) c.266C>A (p.Ser89Tyr) n.548C>A c.1016C>A (p.Ser339Tyr) c.1244C>A (p.Ser415Tyr) c.1151C>A (p.Ser384Tyr) | |
X | g.19359589C>G | CA412396950 | PDHA1 | c.1130C>G (p.Ser377Cys) c.*801C>G (n.*801C>G) c.1193C>G (p.Ser398Cys) c.1223C>G (p.Ser408Cys) n.904C>G c.*441C>G (n.*441C>G) c.*564C>G (n.*564C>G) c.1109C>G (p.Ser370Cys) c.266C>G (p.Ser89Cys) n.548C>G c.1016C>G (p.Ser339Cys) c.1244C>G (p.Ser415Cys) c.1151C>G (p.Ser384Cys) | |
X | g.19359589C>T | CA412396947 | PDHA1 | c.1130C>T (p.Ser377Phe) c.*801C>T (n.*801C>T) c.1193C>T (p.Ser398Phe) c.1223C>T (p.Ser408Phe) n.904C>T c.*441C>T (n.*441C>T) c.*564C>T (n.*564C>T) c.1109C>T (p.Ser370Phe) c.266C>T (p.Ser89Phe) n.548C>T c.1016C>T (p.Ser339Phe) c.1244C>T (p.Ser415Phe) c.1151C>T (p.Ser384Phe) | |
X | g.19359589_19359590delinsTT | CA645608006 | PDHA1 | c.1130_1131delinsTT (p.Ser377Phe) c.*801_*802delinsTT (n.*801_*802delinsTT) c.1193_1194delinsTT (p.Ser398Phe) c.1223_1224delinsTT (p.Ser408Phe) n.904_905delinsTT c.*441_*442delinsTT (n.*441_*442delinsTT) c.*564_*565delinsTT (n.*564_*565delinsTT) c.1109_1110delinsTT (p.Ser370Phe) c.266_267delinsTT (p.Ser89Phe) n.548_549delinsTT c.1016_1017delinsTT (p.Ser339Phe) c.1244_1245delinsTT (p.Ser415Phe) c.1151_1152delinsTT (p.Ser384Phe) | COSMIC COSMIC COSMIC |
X | g.19359590C>A | CA10363212 | PDHA1 | c.1131C>A (p.Ser377=) c.*802C>A (n.*802C>A) c.1194C>A (p.Ser398=) c.1224C>A (p.Ser408=) n.905C>A c.*442C>A (n.*442C>A) c.*565C>A (n.*565C>A) c.1110C>A (p.Ser370=) c.267C>A (p.Ser89=) n.549C>A c.1017C>A (p.Ser339=) c.1245C>A (p.Ser415=) c.1152C>A (p.Ser384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359590C= | CA2418225599 | PDHA1 | c.1131C= (p.Ser377=) c.*802C= (n.*802C=) c.1194C= (p.Ser398=) c.1224C= (p.Ser408=) n.905C= c.*442C= (n.*442C=) c.*565C= (n.*565C=) c.1110C= (p.Ser370=) c.267C= (p.Ser89=) n.549C= c.1017C= (p.Ser339=) c.1245C= (p.Ser415=) c.1152C= (p.Ser384=) | |
X | g.19359590C>G | CA515486460 | PDHA1 | c.1131C>G (p.Ser377=) c.*802C>G (n.*802C>G) c.1194C>G (p.Ser398=) c.1224C>G (p.Ser408=) n.905C>G c.*442C>G (n.*442C>G) c.*565C>G (n.*565C>G) c.1110C>G (p.Ser370=) c.267C>G (p.Ser89=) n.549C>G c.1017C>G (p.Ser339=) c.1245C>G (p.Ser415=) c.1152C>G (p.Ser384=) | |
X | g.19359590C>T | CA515486461 | PDHA1 | c.1131C>T (p.Ser377=) c.*802C>T (n.*802C>T) c.1194C>T (p.Ser398=) c.1224C>T (p.Ser408=) n.905C>T c.*442C>T (n.*442C>T) c.*565C>T (n.*565C>T) c.1110C>T (p.Ser370=) c.267C>T (p.Ser89=) n.549C>T c.1017C>T (p.Ser339=) c.1245C>T (p.Ser415=) c.1152C>T (p.Ser384=) | |
X | g.19359591A>C | CA412396958 | PDHA1 | c.1132A>C (p.Ser378Arg) c.*803A>C (n.*803A>C) c.1195A>C (p.Ser399Arg) c.1225A>C (p.Ser409Arg) n.906A>C c.*443A>C (n.*443A>C) c.*566A>C (n.*566A>C) c.1111A>C (p.Ser371Arg) c.268A>C (p.Ser90Arg) n.550A>C c.1018A>C (p.Ser340Arg) c.1246A>C (p.Ser416Arg) c.1153A>C (p.Ser385Arg) | |
X | g.19359591A>G | CA412396962 | PDHA1 | c.1132A>G (p.Ser378Gly) c.*803A>G (n.*803A>G) c.1195A>G (p.Ser399Gly) c.1225A>G (p.Ser409Gly) n.906A>G c.*443A>G (n.*443A>G) c.*566A>G (n.*566A>G) c.1111A>G (p.Ser371Gly) c.268A>G (p.Ser90Gly) n.550A>G c.1018A>G (p.Ser340Gly) c.1246A>G (p.Ser416Gly) c.1153A>G (p.Ser385Gly) | |
X | g.19359591A>T | CA412396966 | PDHA1 | c.1132A>T (p.Ser378Cys) c.*803A>T (n.*803A>T) c.1195A>T (p.Ser399Cys) c.1225A>T (p.Ser409Cys) n.906A>T c.*443A>T (n.*443A>T) c.*566A>T (n.*566A>T) c.1111A>T (p.Ser371Cys) c.268A>T (p.Ser90Cys) n.550A>T c.1018A>T (p.Ser340Cys) c.1246A>T (p.Ser416Cys) c.1153A>T (p.Ser385Cys) | |
X | g.19359592G>A | CA412396971 | PDHA1 | c.1133G>A (p.Ser378Asn) c.*804G>A (n.*804G>A) c.1196G>A (p.Ser399Asn) c.1226G>A (p.Ser409Asn) n.907G>A c.*444G>A (n.*444G>A) c.*567G>A (n.*567G>A) c.1112G>A (p.Ser371Asn) c.269G>A (p.Ser90Asn) n.551G>A c.1019G>A (p.Ser340Asn) c.1247G>A (p.Ser416Asn) c.1154G>A (p.Ser385Asn) | |
X | g.19359592G>C | CA412396972 | PDHA1 | c.1133G>C (p.Ser378Thr) c.*804G>C (n.*804G>C) c.1196G>C (p.Ser399Thr) c.1226G>C (p.Ser409Thr) n.907G>C c.*444G>C (n.*444G>C) c.*567G>C (n.*567G>C) c.1112G>C (p.Ser371Thr) c.269G>C (p.Ser90Thr) n.551G>C c.1019G>C (p.Ser340Thr) c.1247G>C (p.Ser416Thr) c.1154G>C (p.Ser385Thr) | dbSNP gnomAD v4 |
X | g.19359592G= | CA2418225600 | PDHA1 | c.1133G= (p.Ser378=) c.*804G= (n.*804G=) c.1196G= (p.Ser399=) c.1226G= (p.Ser409=) n.907G= c.*444G= (n.*444G=) c.*567G= (n.*567G=) c.1112G= (p.Ser371=) c.269G= (p.Ser90=) n.551G= c.1019G= (p.Ser340=) c.1247G= (p.Ser416=) c.1154G= (p.Ser385=) | |
X | g.19359592G>T | CA412396976 | PDHA1 | c.1133G>T (p.Ser378Ile) c.*804G>T (n.*804G>T) c.1196G>T (p.Ser399Ile) c.1226G>T (p.Ser409Ile) n.907G>T c.*444G>T (n.*444G>T) c.*567G>T (n.*567G>T) c.1112G>T (p.Ser371Ile) c.269G>T (p.Ser90Ile) n.551G>T c.1019G>T (p.Ser340Ile) c.1247G>T (p.Ser416Ile) c.1154G>T (p.Ser385Ile) | |
X | g.19359593C>A | CA412396978 | PDHA1 | c.1134C>A (p.Ser378Arg) c.*805C>A (n.*805C>A) c.1197C>A (p.Ser399Arg) c.1227C>A (p.Ser409Arg) n.908C>A c.*445C>A (n.*445C>A) c.*568C>A (n.*568C>A) c.1113C>A (p.Ser371Arg) c.270C>A (p.Ser90Arg) n.552C>A c.1020C>A (p.Ser340Arg) c.1248C>A (p.Ser416Arg) c.1155C>A (p.Ser385Arg) | gnomAD v4 |
X | g.19359593C= | CA2418225601 | PDHA1 | c.1134C= (p.Ser378=) c.*805C= (n.*805C=) c.1197C= (p.Ser399=) c.1227C= (p.Ser409=) n.908C= c.*445C= (n.*445C=) c.*568C= (n.*568C=) c.1113C= (p.Ser371=) c.270C= (p.Ser90=) n.552C= c.1020C= (p.Ser340=) c.1248C= (p.Ser416=) c.1155C= (p.Ser385=) | |
X | g.19359593C>G | CA412396981 | PDHA1 | c.1134C>G (p.Ser378Arg) c.*805C>G (n.*805C>G) c.1197C>G (p.Ser399Arg) c.1227C>G (p.Ser409Arg) n.908C>G c.*445C>G (n.*445C>G) c.*568C>G (n.*568C>G) c.1113C>G (p.Ser371Arg) c.270C>G (p.Ser90Arg) n.552C>G c.1020C>G (p.Ser340Arg) c.1248C>G (p.Ser416Arg) c.1155C>G (p.Ser385Arg) | |
X | g.19359593C>T | CA10363213 | PDHA1 | c.1134C>T (p.Ser378=) c.*805C>T (n.*805C>T) c.1197C>T (p.Ser399=) c.1227C>T (p.Ser409=) n.908C>T c.*445C>T (n.*445C>T) c.*568C>T (n.*568C>T) c.1113C>T (p.Ser371=) c.270C>T (p.Ser90=) n.552C>T c.1020C>T (p.Ser340=) c.1248C>T (p.Ser416=) c.1155C>T (p.Ser385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359593_19359594insACATCTACTCCAC | CA2695231674 | PDHA1 | c.1134_1135insACATCTACTCCAC (p.Asp379ThrfsTer9) c.*805_*806insACATCTACTCCAC (n.*805_*806insACATCTACTCCAC) c.1197_1198insACATCTACTCCAC (p.Asp400ThrfsTer9) c.1227_1228insACATCTACTCCAC (p.Asp410ThrfsTer9) n.908_909insACATCTACTCCAC c.*445_*446insACATCTACTCCAC (n.*445_*446insACATCTACTCCAC) c.*568_*569insACATCTACTCCAC (n.*568_*569insACATCTACTCCAC) c.1113_1114insACATCTACTCCAC (p.Asp372ThrfsTer9) c.270_271insACATCTACTCCAC (p.Asp91ThrfsTer9) n.552_553insACATCTACTCCAC c.1020_1021insACATCTACTCCAC (p.Asp341ThrfsTer9) c.1248_1249insACATCTACTCCAC (p.Asp417ThrfsTer9) c.1155_1156insACATCTACTCCAC (p.Asp386ThrfsTer9) | |
X | g.19359594G>A | CA10363214 | PDHA1 | c.1135G>A (p.Asp379Asn) c.*806G>A (n.*806G>A) c.1198G>A (p.Asp400Asn) c.1228G>A (p.Asp410Asn) n.909G>A c.*446G>A (n.*446G>A) c.*569G>A (n.*569G>A) c.1114G>A (p.Asp372Asn) c.271G>A (p.Asp91Asn) n.553G>A c.1021G>A (p.Asp341Asn) c.1249G>A (p.Asp417Asn) c.1156G>A (p.Asp386Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359594G>C | CA412396993 | PDHA1 | c.1135G>C (p.Asp379His) c.*806G>C (n.*806G>C) c.1198G>C (p.Asp400His) c.1228G>C (p.Asp410His) n.909G>C c.*446G>C (n.*446G>C) c.*569G>C (n.*569G>C) c.1114G>C (p.Asp372His) c.271G>C (p.Asp91His) n.553G>C c.1021G>C (p.Asp341His) c.1249G>C (p.Asp417His) c.1156G>C (p.Asp386His) | |
X | g.19359594G= | CA2418225602 | PDHA1 | c.1135G= (p.Asp379=) c.*806G= (n.*806G=) c.1198G= (p.Asp400=) c.1228G= (p.Asp410=) n.909G= c.*446G= (n.*446G=) c.*569G= (n.*569G=) c.1114G= (p.Asp372=) c.271G= (p.Asp91=) n.553G= c.1021G= (p.Asp341=) c.1249G= (p.Asp417=) c.1156G= (p.Asp386=) | |
X | g.19359594G>T | CA412396987 | PDHA1 | c.1135G>T (p.Asp379Tyr) c.*806G>T (n.*806G>T) c.1198G>T (p.Asp400Tyr) c.1228G>T (p.Asp410Tyr) n.909G>T c.*446G>T (n.*446G>T) c.*569G>T (n.*569G>T) c.1114G>T (p.Asp372Tyr) c.271G>T (p.Asp91Tyr) n.553G>T c.1021G>T (p.Asp341Tyr) c.1249G>T (p.Asp417Tyr) c.1156G>T (p.Asp386Tyr) | |
X | g.19359594dup | CA2841780300 | PDHA1 | c.1135dup (p.Asp379GlyfsTer5) c.*806dup (n.*806dup) c.1198dup (p.Asp400GlyfsTer5) c.1228dup (p.Asp410GlyfsTer5) n.909dup c.*446dup (n.*446dup) c.*569dup (n.*569dup) c.1114dup (p.Asp372GlyfsTer5) c.271dup (p.Asp91GlyfsTer5) n.553dup c.1021dup (p.Asp341GlyfsTer5) c.1249dup (p.Asp417GlyfsTer5) c.1156dup (p.Asp386GlyfsTer5) | |
X | g.19359595A>C | CA412396997 | PDHA1 | c.1136A>C (p.Asp379Ala) c.*807A>C (n.*807A>C) c.1199A>C (p.Asp400Ala) c.1229A>C (p.Asp410Ala) n.910A>C c.*447A>C (n.*447A>C) c.*570A>C (n.*570A>C) c.1115A>C (p.Asp372Ala) c.272A>C (p.Asp91Ala) n.554A>C c.1022A>C (p.Asp341Ala) c.1250A>C (p.Asp417Ala) c.1157A>C (p.Asp386Ala) | |
X | g.19359595A>G | CA412396999 | PDHA1 | c.1136A>G (p.Asp379Gly) c.*807A>G (n.*807A>G) c.1199A>G (p.Asp400Gly) c.1229A>G (p.Asp410Gly) n.910A>G c.*447A>G (n.*447A>G) c.*570A>G (n.*570A>G) c.1115A>G (p.Asp372Gly) c.272A>G (p.Asp91Gly) n.554A>G c.1022A>G (p.Asp341Gly) c.1250A>G (p.Asp417Gly) c.1157A>G (p.Asp386Gly) | COSMIC COSMIC COSMIC |
X | g.19359595A>T | CA412397001 | PDHA1 | c.1136A>T (p.Asp379Val) c.*807A>T (n.*807A>T) c.1199A>T (p.Asp400Val) c.1229A>T (p.Asp410Val) n.910A>T c.*447A>T (n.*447A>T) c.*570A>T (n.*570A>T) c.1115A>T (p.Asp372Val) c.272A>T (p.Asp91Val) n.554A>T c.1022A>T (p.Asp341Val) c.1250A>T (p.Asp417Val) c.1157A>T (p.Asp386Val) | |
X | g.19359596C>A | CA412397004 | PDHA1 | c.1137C>A (p.Asp379Glu) c.*808C>A (n.*808C>A) c.1200C>A (p.Asp400Glu) c.1230C>A (p.Asp410Glu) n.911C>A c.*448C>A (n.*448C>A) c.*571C>A (n.*571C>A) c.1116C>A (p.Asp372Glu) c.273C>A (p.Asp91Glu) n.555C>A c.1023C>A (p.Asp341Glu) c.1251C>A (p.Asp417Glu) c.1158C>A (p.Asp386Glu) | gnomAD v4 |
X | g.19359596C>G | CA412397006 | PDHA1 | c.1137C>G (p.Asp379Glu) c.*808C>G (n.*808C>G) c.1200C>G (p.Asp400Glu) c.1230C>G (p.Asp410Glu) n.911C>G c.*448C>G (n.*448C>G) c.*571C>G (n.*571C>G) c.1116C>G (p.Asp372Glu) c.273C>G (p.Asp91Glu) n.555C>G c.1023C>G (p.Asp341Glu) c.1251C>G (p.Asp417Glu) c.1158C>G (p.Asp386Glu) | |
X | g.19359596C>T | CA515486462 | PDHA1 | c.1137C>T (p.Asp379=) c.*808C>T (n.*808C>T) c.1200C>T (p.Asp400=) c.1230C>T (p.Asp410=) n.911C>T c.*448C>T (n.*448C>T) c.*571C>T (n.*571C>T) c.1116C>T (p.Asp372=) c.273C>T (p.Asp91=) n.555C>T c.1023C>T (p.Asp341=) c.1251C>T (p.Asp417=) c.1158C>T (p.Asp386=) | gnomAD v4 |
X | g.19359596_19359608delinsCCCACCTTTTGAA | CA2418225603 | PDHA1 | c.1137_1149delinsCCCACCTTTTGAA (p.Asp379=) c.*808_*820delinsCCCACCTTTTGAA (n.*808_*820delinsCCCACCTTTTGAA) c.1200_1212delinsCCCACCTTTTGAA (p.Asp400=) c.1230_1242delinsCCCACCTTTTGAA (p.Asp410=) n.911_923delinsCCCACCTTTTGAA c.*448_*460delinsCCCACCTTTTGAA (n.*448_*460delinsCCCACCTTTTGAA) c.*571_*583delinsCCCACCTTTTGAA (n.*571_*583delinsCCCACCTTTTGAA) c.1116_1128delinsCCCACCTTTTGAA (p.Asp372=) c.273_285delinsCCCACCTTTTGAA (p.Asp91=) n.555_567delinsCCCACCTTTTGAA c.1023_1035delinsCCCACCTTTTGAA (p.Asp341=) c.1251_1263delinsCCCACCTTTTGAA (p.Asp417=) c.1158_1170delinsCCCACCTTTTGAA (p.Asp386=) | |
X | g.19359597C>A | CA412397014 | PDHA1 | c.1138C>A (p.Pro380Thr) c.*809C>A (n.*809C>A) c.1201C>A (p.Pro401Thr) c.1231C>A (p.Pro411Thr) n.912C>A c.*449C>A (n.*449C>A) c.*572C>A (n.*572C>A) c.1117C>A (p.Pro373Thr) c.274C>A (p.Pro92Thr) n.556C>A c.1024C>A (p.Pro342Thr) c.1252C>A (p.Pro418Thr) c.1159C>A (p.Pro387Thr) | |
X | g.19359597C= | CA2418225604 | PDHA1 | c.1138C= (p.Pro380=) c.*809C= (n.*809C=) c.1201C= (p.Pro401=) c.1231C= (p.Pro411=) n.912C= c.*449C= (n.*449C=) c.*572C= (n.*572C=) c.1117C= (p.Pro373=) c.274C= (p.Pro92=) n.556C= c.1024C= (p.Pro342=) c.1252C= (p.Pro418=) c.1159C= (p.Pro387=) | |
X | g.19359597C>G | CA412397011 | PDHA1 | c.1138C>G (p.Pro380Ala) c.*809C>G (n.*809C>G) c.1201C>G (p.Pro401Ala) c.1231C>G (p.Pro411Ala) n.912C>G c.*449C>G (n.*449C>G) c.*572C>G (n.*572C>G) c.1117C>G (p.Pro373Ala) c.274C>G (p.Pro92Ala) n.556C>G c.1024C>G (p.Pro342Ala) c.1252C>G (p.Pro418Ala) c.1159C>G (p.Pro387Ala) | |
X | g.19359597C>T | CA10363215 | PDHA1 | c.1138C>T (p.Pro380Ser) c.*809C>T (n.*809C>T) c.1201C>T (p.Pro401Ser) c.1231C>T (p.Pro411Ser) n.912C>T c.*449C>T (n.*449C>T) c.*572C>T (n.*572C>T) c.1117C>T (p.Pro373Ser) c.274C>T (p.Pro92Ser) n.556C>T c.1024C>T (p.Pro342Ser) c.1252C>T (p.Pro418Ser) c.1159C>T (p.Pro387Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359597_19359608del | CA915950758 | PDHA1 | c.1138_1149del (p.Pro380_Glu383del) c.*809_*820del (n.*809_*820del) c.1201_1212del (p.Pro401_Glu404del) c.1231_1242del (p.Pro411_Glu414del) n.912_923del c.*449_*460del (n.*449_*460del) c.*572_*583del (n.*572_*583del) c.1117_1128del (p.Pro373_Glu376del) c.274_285del (p.Pro92_Glu95del) n.556_567del c.1024_1035del (p.Pro342_Glu345del) c.1252_1263del (p.Pro418_Glu421del) c.1159_1170del (p.Pro387_Glu390del) | ClinVar dbSNP |
X | g.19359598C>A | CA412397017 | PDHA1 | c.1139C>A (p.Pro380Gln) c.*810C>A (n.*810C>A) c.1202C>A (p.Pro401Gln) c.1232C>A (p.Pro411Gln) n.913C>A c.*450C>A (n.*450C>A) c.*573C>A (n.*573C>A) c.1118C>A (p.Pro373Gln) c.275C>A (p.Pro92Gln) n.557C>A c.1025C>A (p.Pro342Gln) c.1253C>A (p.Pro418Gln) c.1160C>A (p.Pro387Gln) | |
X | g.19359598C= | CA2418225605 | PDHA1 | c.1139C= (p.Pro380=) c.*810C= (n.*810C=) c.1202C= (p.Pro401=) c.1232C= (p.Pro411=) n.913C= c.*450C= (n.*450C=) c.*573C= (n.*573C=) c.1118C= (p.Pro373=) c.275C= (p.Pro92=) n.557C= c.1025C= (p.Pro342=) c.1253C= (p.Pro418=) c.1160C= (p.Pro387=) | |
X | g.19359598C>G | CA412397019 | PDHA1 | c.1139C>G (p.Pro380Arg) c.*810C>G (n.*810C>G) c.1202C>G (p.Pro401Arg) c.1232C>G (p.Pro411Arg) n.913C>G c.*450C>G (n.*450C>G) c.*573C>G (n.*573C>G) c.1118C>G (p.Pro373Arg) c.275C>G (p.Pro92Arg) n.557C>G c.1025C>G (p.Pro342Arg) c.1253C>G (p.Pro418Arg) c.1160C>G (p.Pro387Arg) | |
X | g.19359598C>T | CA10363216 | PDHA1 | c.1139C>T (p.Pro380Leu) c.*810C>T (n.*810C>T) c.1202C>T (p.Pro401Leu) c.1232C>T (p.Pro411Leu) n.913C>T c.*450C>T (n.*450C>T) c.*573C>T (n.*573C>T) c.1118C>T (p.Pro373Leu) c.275C>T (p.Pro92Leu) n.557C>T c.1025C>T (p.Pro342Leu) c.1253C>T (p.Pro418Leu) c.1160C>T (p.Pro387Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359599A>C | CA515486465 | PDHA1 | c.1140A>C (p.Pro380=) c.*811A>C (n.*811A>C) c.1203A>C (p.Pro401=) c.1233A>C (p.Pro411=) n.914A>C c.*451A>C (n.*451A>C) c.*574A>C (n.*574A>C) c.1119A>C (p.Pro373=) c.276A>C (p.Pro92=) n.558A>C c.1026A>C (p.Pro342=) c.1254A>C (p.Pro418=) c.1161A>C (p.Pro387=) | |
X | g.19359599A>G | CA515486463 | PDHA1 | c.1140A>G (p.Pro380=) c.*811A>G (n.*811A>G) c.1203A>G (p.Pro401=) c.1233A>G (p.Pro411=) n.914A>G c.*451A>G (n.*451A>G) c.*574A>G (n.*574A>G) c.1119A>G (p.Pro373=) c.276A>G (p.Pro92=) n.558A>G c.1026A>G (p.Pro342=) c.1254A>G (p.Pro418=) c.1161A>G (p.Pro387=) | |
X | g.19359599A>T | CA515486464 | PDHA1 | c.1140A>T (p.Pro380=) c.*811A>T (n.*811A>T) c.1203A>T (p.Pro401=) c.1233A>T (p.Pro411=) n.914A>T c.*451A>T (n.*451A>T) c.*574A>T (n.*574A>T) c.1119A>T (p.Pro373=) c.276A>T (p.Pro92=) n.558A>T c.1026A>T (p.Pro342=) c.1254A>T (p.Pro418=) c.1161A>T (p.Pro387=) | |
X | g.19359600C>A | CA412397022 | PDHA1 | c.1141C>A (p.Pro381Thr) c.*812C>A (n.*812C>A) c.1204C>A (p.Pro402Thr) c.1234C>A (p.Pro412Thr) n.915C>A c.*452C>A (n.*452C>A) c.*575C>A (n.*575C>A) c.1120C>A (p.Pro374Thr) c.277C>A (p.Pro93Thr) n.559C>A c.1027C>A (p.Pro343Thr) c.1255C>A (p.Pro419Thr) c.1162C>A (p.Pro388Thr) | |
X | g.19359600C>G | CA412397024 | PDHA1 | c.1141C>G (p.Pro381Ala) c.*812C>G (n.*812C>G) c.1204C>G (p.Pro402Ala) c.1234C>G (p.Pro412Ala) n.915C>G c.*452C>G (n.*452C>G) c.*575C>G (n.*575C>G) c.1120C>G (p.Pro374Ala) c.277C>G (p.Pro93Ala) n.559C>G c.1027C>G (p.Pro343Ala) c.1255C>G (p.Pro419Ala) c.1162C>G (p.Pro388Ala) | |
X | g.19359600C>T | CA412397026 | PDHA1 | c.1141C>T (p.Pro381Ser) c.*812C>T (n.*812C>T) c.1204C>T (p.Pro402Ser) c.1234C>T (p.Pro412Ser) n.915C>T c.*452C>T (n.*452C>T) c.*575C>T (n.*575C>T) c.1120C>T (p.Pro374Ser) c.277C>T (p.Pro93Ser) n.559C>T c.1027C>T (p.Pro343Ser) c.1255C>T (p.Pro419Ser) c.1162C>T (p.Pro388Ser) | |
X | g.19359601C>A | CA412397030 | PDHA1 | c.1142C>A (p.Pro381His) c.*813C>A (n.*813C>A) c.1205C>A (p.Pro402His) c.1235C>A (p.Pro412His) n.916C>A c.*453C>A (n.*453C>A) c.*576C>A (n.*576C>A) c.1121C>A (p.Pro374His) c.278C>A (p.Pro93His) n.560C>A c.1028C>A (p.Pro343His) c.1256C>A (p.Pro419His) c.1163C>A (p.Pro388His) | |
X | g.19359601C>G | CA412397032 | PDHA1 | c.1142C>G (p.Pro381Arg) c.*813C>G (n.*813C>G) c.1205C>G (p.Pro402Arg) c.1235C>G (p.Pro412Arg) n.916C>G c.*453C>G (n.*453C>G) c.*576C>G (n.*576C>G) c.1121C>G (p.Pro374Arg) c.278C>G (p.Pro93Arg) n.560C>G c.1028C>G (p.Pro343Arg) c.1256C>G (p.Pro419Arg) c.1163C>G (p.Pro388Arg) | |
X | g.19359601C>T | CA412397031 | PDHA1 | c.1142C>T (p.Pro381Leu) c.*813C>T (n.*813C>T) c.1205C>T (p.Pro402Leu) c.1235C>T (p.Pro412Leu) n.916C>T c.*453C>T (n.*453C>T) c.*576C>T (n.*576C>T) c.1121C>T (p.Pro374Leu) c.278C>T (p.Pro93Leu) n.560C>T c.1028C>T (p.Pro343Leu) c.1256C>T (p.Pro419Leu) c.1163C>T (p.Pro388Leu) | |
X | g.19359602T>A | CA515486466 | PDHA1 | c.1143T>A (p.Pro381=) c.*814T>A (n.*814T>A) c.1206T>A (p.Pro402=) c.1236T>A (p.Pro412=) n.917T>A c.*454T>A (n.*454T>A) c.*577T>A (n.*577T>A) c.1122T>A (p.Pro374=) c.279T>A (p.Pro93=) n.561T>A c.1029T>A (p.Pro343=) c.1257T>A (p.Pro419=) c.1164T>A (p.Pro388=) | |
X | g.19359602T>C | CA515486467 | PDHA1 | c.1143T>C (p.Pro381=) c.*814T>C (n.*814T>C) c.1206T>C (p.Pro402=) c.1236T>C (p.Pro412=) n.917T>C c.*454T>C (n.*454T>C) c.*577T>C (n.*577T>C) c.1122T>C (p.Pro374=) c.279T>C (p.Pro93=) n.561T>C c.1029T>C (p.Pro343=) c.1257T>C (p.Pro419=) c.1164T>C (p.Pro388=) | |
X | g.19359602T>G | CA515486468 | PDHA1 | c.1143T>G (p.Pro381=) c.*814T>G (n.*814T>G) c.1206T>G (p.Pro402=) c.1236T>G (p.Pro412=) n.917T>G c.*454T>G (n.*454T>G) c.*577T>G (n.*577T>G) c.1122T>G (p.Pro374=) c.279T>G (p.Pro93=) n.561T>G c.1029T>G (p.Pro343=) c.1257T>G (p.Pro419=) c.1164T>G (p.Pro388=) | |
X | g.19359605dup | CA2841780301 | PDHA1 | c.1146dup (p.Glu383Ter) c.*817dup (n.*817dup) c.1209dup (p.Glu404Ter) c.1239dup (p.Glu414Ter) n.920dup c.*457dup (n.*457dup) c.*580dup (n.*580dup) c.1125dup (p.Glu376Ter) c.282dup (p.Glu95Ter) n.564dup c.1032dup (p.Glu345Ter) c.1260dup (p.Glu421Ter) c.1167dup (p.Glu390Ter) | |
X | g.19359604_19359605dup | CA2695231675 | PDHA1 | c.1145_1146dup (p.Glu383LeufsTer?) c.*816_*817dup (n.*816_*817dup) c.1208_1209dup (p.Glu404LeufsTer?) c.1238_1239dup (p.Glu414LeufsTer?) n.919_920dup c.*456_*457dup (n.*456_*457dup) c.*579_*580dup (n.*579_*580dup) c.1124_1125dup (p.Glu376LeufsTer?) c.281_282dup (p.Glu95LeufsTer?) n.563_564dup c.1031_1032dup (p.Glu345LeufsTer?) c.1259_1260dup (p.Glu421LeufsTer?) c.1166_1167dup (p.Glu390LeufsTer?) | |
X | g.19359605del | CA515486469 | PDHA1 | c.1146del (p.Phe382LeufsTer?) c.*817del (n.*817del) c.1209del (p.Phe403LeufsTer?) c.1239del (p.Phe413LeufsTer?) n.920del c.*457del (n.*457del) c.*580del (n.*580del) c.1125del (p.Phe375LeufsTer?) c.282del (p.Phe94LeufsTer?) n.564del c.1032del (p.Phe344LeufsTer?) c.1260del (p.Phe420LeufsTer?) c.1167del (p.Phe389LeufsTer?) | COSMIC COSMIC |
X | g.19359603T>A | CA412397033 | PDHA1 | c.1144T>A (p.Phe382Ile) c.*815T>A (n.*815T>A) c.1207T>A (p.Phe403Ile) c.1237T>A (p.Phe413Ile) n.918T>A c.*455T>A (n.*455T>A) c.*578T>A (n.*578T>A) c.1123T>A (p.Phe375Ile) c.280T>A (p.Phe94Ile) n.562T>A c.1030T>A (p.Phe344Ile) c.1258T>A (p.Phe420Ile) c.1165T>A (p.Phe389Ile) | |
X | g.19359603T>C | CA412397035 | PDHA1 | c.1144T>C (p.Phe382Leu) c.*815T>C (n.*815T>C) c.1207T>C (p.Phe403Leu) c.1237T>C (p.Phe413Leu) n.918T>C c.*455T>C (n.*455T>C) c.*578T>C (n.*578T>C) c.1123T>C (p.Phe375Leu) c.280T>C (p.Phe94Leu) n.562T>C c.1030T>C (p.Phe344Leu) c.1258T>C (p.Phe420Leu) c.1165T>C (p.Phe389Leu) | |
X | g.19359603T>G | CA412397037 | PDHA1 | c.1144T>G (p.Phe382Val) c.*815T>G (n.*815T>G) c.1207T>G (p.Phe403Val) c.1237T>G (p.Phe413Val) n.918T>G c.*455T>G (n.*455T>G) c.*578T>G (n.*578T>G) c.1123T>G (p.Phe375Val) c.280T>G (p.Phe94Val) n.562T>G c.1030T>G (p.Phe344Val) c.1258T>G (p.Phe420Val) c.1165T>G (p.Phe389Val) | |
X | g.19359604T>A | CA412397040 | PDHA1 | c.1145T>A (p.Phe382Tyr) c.*816T>A (n.*816T>A) c.1208T>A (p.Phe403Tyr) c.1238T>A (p.Phe413Tyr) n.919T>A c.*456T>A (n.*456T>A) c.*579T>A (n.*579T>A) c.1124T>A (p.Phe375Tyr) c.281T>A (p.Phe94Tyr) n.563T>A c.1031T>A (p.Phe344Tyr) c.1259T>A (p.Phe420Tyr) c.1166T>A (p.Phe389Tyr) | |
X | g.19359604T>C | CA412397045 | PDHA1 | c.1145T>C (p.Phe382Ser) c.*816T>C (n.*816T>C) c.1208T>C (p.Phe403Ser) c.1238T>C (p.Phe413Ser) n.919T>C c.*456T>C (n.*456T>C) c.*579T>C (n.*579T>C) c.1124T>C (p.Phe375Ser) c.281T>C (p.Phe94Ser) n.563T>C c.1031T>C (p.Phe344Ser) c.1259T>C (p.Phe420Ser) c.1166T>C (p.Phe389Ser) | |
X | g.19359604T>G | CA412397047 | PDHA1 | c.1145T>G (p.Phe382Cys) c.*816T>G (n.*816T>G) c.1208T>G (p.Phe403Cys) c.1238T>G (p.Phe413Cys) n.919T>G c.*456T>G (n.*456T>G) c.*579T>G (n.*579T>G) c.1124T>G (p.Phe375Cys) c.281T>G (p.Phe94Cys) n.563T>G c.1031T>G (p.Phe344Cys) c.1259T>G (p.Phe420Cys) c.1166T>G (p.Phe389Cys) | |
X | g.19359605T>A | CA412397050 | PDHA1 | c.1146T>A (p.Phe382Leu) c.*817T>A (n.*817T>A) c.1209T>A (p.Phe403Leu) c.1239T>A (p.Phe413Leu) n.920T>A c.*457T>A (n.*457T>A) c.*580T>A (n.*580T>A) c.1125T>A (p.Phe375Leu) c.282T>A (p.Phe94Leu) n.564T>A c.1032T>A (p.Phe344Leu) c.1260T>A (p.Phe420Leu) c.1167T>A (p.Phe389Leu) | |
X | g.19359605T>C | CA515486470 | PDHA1 | c.1146T>C (p.Phe382=) c.*817T>C (n.*817T>C) c.1209T>C (p.Phe403=) c.1239T>C (p.Phe413=) n.920T>C c.*457T>C (n.*457T>C) c.*580T>C (n.*580T>C) c.1125T>C (p.Phe375=) c.282T>C (p.Phe94=) n.564T>C c.1032T>C (p.Phe344=) c.1260T>C (p.Phe420=) c.1167T>C (p.Phe389=) | |
X | g.19359605T>G | CA412397053 | PDHA1 | c.1146T>G (p.Phe382Leu) c.*817T>G (n.*817T>G) c.1209T>G (p.Phe403Leu) c.1239T>G (p.Phe413Leu) n.920T>G c.*457T>G (n.*457T>G) c.*580T>G (n.*580T>G) c.1125T>G (p.Phe375Leu) c.282T>G (p.Phe94Leu) n.564T>G c.1032T>G (p.Phe344Leu) c.1260T>G (p.Phe420Leu) c.1167T>G (p.Phe389Leu) | |
X | g.19359606G>A | CA412397057 | PDHA1 | c.1147G>A (p.Glu383Lys) c.*818G>A (n.*818G>A) c.1210G>A (p.Glu404Lys) c.1240G>A (p.Glu414Lys) n.921G>A c.*458G>A (n.*458G>A) c.*581G>A (n.*581G>A) c.1126G>A (p.Glu376Lys) c.283G>A (p.Glu95Lys) n.565G>A c.1033G>A (p.Glu345Lys) c.1261G>A (p.Glu421Lys) c.1168G>A (p.Glu390Lys) | |
X | g.19359606G>C | CA412397059 | PDHA1 | c.1147G>C (p.Glu383Gln) c.*818G>C (n.*818G>C) c.1210G>C (p.Glu404Gln) c.1240G>C (p.Glu414Gln) n.921G>C c.*458G>C (n.*458G>C) c.*581G>C (n.*581G>C) c.1126G>C (p.Glu376Gln) c.283G>C (p.Glu95Gln) n.565G>C c.1033G>C (p.Glu345Gln) c.1261G>C (p.Glu421Gln) c.1168G>C (p.Glu390Gln) | |
X | g.19359606G>T | CA412397061 | PDHA1 | c.1147G>T (p.Glu383Ter) c.*818G>T (n.*818G>T) c.1210G>T (p.Glu404Ter) c.1240G>T (p.Glu414Ter) n.921G>T c.*458G>T (n.*458G>T) c.*581G>T (n.*581G>T) c.1126G>T (p.Glu376Ter) c.283G>T (p.Glu95Ter) n.565G>T c.1033G>T (p.Glu345Ter) c.1261G>T (p.Glu421Ter) c.1168G>T (p.Glu390Ter) | |
X | g.19359607A>C | CA412397069 | PDHA1 | c.1148A>C (p.Glu383Ala) c.*819A>C (n.*819A>C) c.1211A>C (p.Glu404Ala) c.1241A>C (p.Glu414Ala) n.922A>C c.*459A>C (n.*459A>C) c.*582A>C (n.*582A>C) c.1127A>C (p.Glu376Ala) c.284A>C (p.Glu95Ala) n.566A>C c.1034A>C (p.Glu345Ala) c.1262A>C (p.Glu421Ala) c.1169A>C (p.Glu390Ala) | |
X | g.19359607A>G | CA412397066 | PDHA1 | c.1148A>G (p.Glu383Gly) c.*819A>G (n.*819A>G) c.1211A>G (p.Glu404Gly) c.1241A>G (p.Glu414Gly) n.922A>G c.*459A>G (n.*459A>G) c.*582A>G (n.*582A>G) c.1127A>G (p.Glu376Gly) c.284A>G (p.Glu95Gly) n.566A>G c.1034A>G (p.Glu345Gly) c.1262A>G (p.Glu421Gly) c.1169A>G (p.Glu390Gly) | |
X | g.19359607A>T | CA412397065 | PDHA1 | c.1148A>T (p.Glu383Val) c.*819A>T (n.*819A>T) c.1211A>T (p.Glu404Val) c.1241A>T (p.Glu414Val) n.922A>T c.*459A>T (n.*459A>T) c.*582A>T (n.*582A>T) c.1127A>T (p.Glu376Val) c.284A>T (p.Glu95Val) n.566A>T c.1034A>T (p.Glu345Val) c.1262A>T (p.Glu421Val) c.1169A>T (p.Glu390Val) | |
X | g.19359608A= | CA2418225606 | PDHA1 | c.1149A= (p.Glu383=) c.*820A= (n.*820A=) c.1212A= (p.Glu404=) c.1242A= (p.Glu414=) n.923A= c.*460A= (n.*460A=) c.*583A= (n.*583A=) c.1128A= (p.Glu376=) c.285A= (p.Glu95=) n.567A= c.1035A= (p.Glu345=) c.1263A= (p.Glu421=) c.1170A= (p.Glu390=) | |
X | g.19359608A>C | CA10363217 | PDHA1 | c.1149A>C (p.Glu383Asp) c.*820A>C (n.*820A>C) c.1212A>C (p.Glu404Asp) c.1242A>C (p.Glu414Asp) n.923A>C c.*460A>C (n.*460A>C) c.*583A>C (n.*583A>C) c.1128A>C (p.Glu376Asp) c.285A>C (p.Glu95Asp) n.567A>C c.1035A>C (p.Glu345Asp) c.1263A>C (p.Glu421Asp) c.1170A>C (p.Glu390Asp) | dbSNP ExAC gnomAD v2 |
X | g.19359608A>G | CA515486471 | PDHA1 | c.1149A>G (p.Glu383=) c.*820A>G (n.*820A>G) c.1212A>G (p.Glu404=) c.1242A>G (p.Glu414=) n.923A>G c.*460A>G (n.*460A>G) c.*583A>G (n.*583A>G) c.1128A>G (p.Glu376=) c.285A>G (p.Glu95=) n.567A>G c.1035A>G (p.Glu345=) c.1263A>G (p.Glu421=) c.1170A>G (p.Glu390=) | |
X | g.19359608A>T | CA412397075 | PDHA1 | c.1149A>T (p.Glu383Asp) c.*820A>T (n.*820A>T) c.1212A>T (p.Glu404Asp) c.1242A>T (p.Glu414Asp) n.923A>T c.*460A>T (n.*460A>T) c.*583A>T (n.*583A>T) c.1128A>T (p.Glu376Asp) c.285A>T (p.Glu95Asp) n.567A>T c.1035A>T (p.Glu345Asp) c.1263A>T (p.Glu421Asp) c.1170A>T (p.Glu390Asp) | |
X | g.19359609G>A | CA412397079 | PDHA1 | c.1150G>A (p.Val384Ile) c.*821G>A (n.*821G>A) c.1213G>A (p.Val405Ile) c.1243G>A (p.Val415Ile) n.924G>A c.*461G>A (n.*461G>A) c.*584G>A (n.*584G>A) c.1129G>A (p.Val377Ile) c.286G>A (p.Val96Ile) n.568G>A c.1036G>A (p.Val346Ile) c.1264G>A (p.Val422Ile) c.1171G>A (p.Val391Ile) | |
X | g.19359609G>C | CA412397084 | PDHA1 | c.1150G>C (p.Val384Leu) c.*821G>C (n.*821G>C) c.1213G>C (p.Val405Leu) c.1243G>C (p.Val415Leu) n.924G>C c.*461G>C (n.*461G>C) c.*584G>C (n.*584G>C) c.1129G>C (p.Val377Leu) c.286G>C (p.Val96Leu) n.568G>C c.1036G>C (p.Val346Leu) c.1264G>C (p.Val422Leu) c.1171G>C (p.Val391Leu) | |
X | g.19359609G>T | CA412397082 | PDHA1 | c.1150G>T (p.Val384Phe) c.*821G>T (n.*821G>T) c.1213G>T (p.Val405Phe) c.1243G>T (p.Val415Phe) n.924G>T c.*461G>T (n.*461G>T) c.*584G>T (n.*584G>T) c.1129G>T (p.Val377Phe) c.286G>T (p.Val96Phe) n.568G>T c.1036G>T (p.Val346Phe) c.1264G>T (p.Val422Phe) c.1171G>T (p.Val391Phe) | |
X | g.19359610T>A | CA412397089 | PDHA1 | c.1151T>A (p.Val384Asp) c.*822T>A (n.*822T>A) c.1214T>A (p.Val405Asp) c.1244T>A (p.Val415Asp) n.925T>A c.*462T>A (n.*462T>A) c.*585T>A (n.*585T>A) c.1130T>A (p.Val377Asp) c.287T>A (p.Val96Asp) n.569T>A c.1037T>A (p.Val346Asp) c.1265T>A (p.Val422Asp) c.1172T>A (p.Val391Asp) | |
X | g.19359610T>C | CA412397093 | PDHA1 | c.1151T>C (p.Val384Ala) c.*822T>C (n.*822T>C) c.1214T>C (p.Val405Ala) c.1244T>C (p.Val415Ala) n.925T>C c.*462T>C (n.*462T>C) c.*585T>C (n.*585T>C) c.1130T>C (p.Val377Ala) c.287T>C (p.Val96Ala) n.569T>C c.1037T>C (p.Val346Ala) c.1265T>C (p.Val422Ala) c.1172T>C (p.Val391Ala) | |
X | g.19359610T>G | CA412397096 | PDHA1 | c.1151T>G (p.Val384Gly) c.*822T>G (n.*822T>G) c.1214T>G (p.Val405Gly) c.1244T>G (p.Val415Gly) n.925T>G c.*462T>G (n.*462T>G) c.*585T>G (n.*585T>G) c.1130T>G (p.Val377Gly) c.287T>G (p.Val96Gly) n.569T>G c.1037T>G (p.Val346Gly) c.1265T>G (p.Val422Gly) c.1172T>G (p.Val391Gly) | |
X | g.19359611T>A | CA515486472 | PDHA1 | c.1152T>A (p.Val384=) c.*823T>A (n.*823T>A) c.1215T>A (p.Val405=) c.1245T>A (p.Val415=) n.926T>A c.*463T>A (n.*463T>A) c.*586T>A (n.*586T>A) c.1131T>A (p.Val377=) c.288T>A (p.Val96=) n.570T>A c.1038T>A (p.Val346=) c.1266T>A (p.Val422=) c.1173T>A (p.Val391=) | |
X | g.19359611T>C | CA515486474 | PDHA1 | c.1152T>C (p.Val384=) c.*823T>C (n.*823T>C) c.1215T>C (p.Val405=) c.1245T>C (p.Val415=) n.926T>C c.*463T>C (n.*463T>C) c.*586T>C (n.*586T>C) c.1131T>C (p.Val377=) c.288T>C (p.Val96=) n.570T>C c.1038T>C (p.Val346=) c.1266T>C (p.Val422=) c.1173T>C (p.Val391=) | gnomAD v4 |
X | g.19359611T>G | CA515486473 | PDHA1 | c.1152T>G (p.Val384=) c.*823T>G (n.*823T>G) c.1215T>G (p.Val405=) c.1245T>G (p.Val415=) n.926T>G c.*463T>G (n.*463T>G) c.*586T>G (n.*586T>G) c.1131T>G (p.Val377=) c.288T>G (p.Val96=) n.570T>G c.1038T>G (p.Val346=) c.1266T>G (p.Val422=) c.1173T>G (p.Val391=) | |
X | g.19359612C>A | CA412397100 | PDHA1 | c.1153C>A (p.Arg385Ser) c.*824C>A (n.*824C>A) c.1216C>A (p.Arg406Ser) c.1246C>A (p.Arg416Ser) n.927C>A c.*464C>A (n.*464C>A) c.*587C>A (n.*587C>A) c.1132C>A (p.Arg378Ser) c.289C>A (p.Arg97Ser) n.571C>A c.1039C>A (p.Arg347Ser) c.1267C>A (p.Arg423Ser) c.1174C>A (p.Arg392Ser) | COSMIC COSMIC COSMIC |
X | g.19359612C= | CA2418225607 | PDHA1 | c.1153C= (p.Arg385=) c.*824C= (n.*824C=) c.1216C= (p.Arg406=) c.1246C= (p.Arg416=) n.927C= c.*464C= (n.*464C=) c.*587C= (n.*587C=) c.1132C= (p.Arg378=) c.289C= (p.Arg97=) n.571C= c.1039C= (p.Arg347=) c.1267C= (p.Arg423=) c.1174C= (p.Arg392=) | |
X | g.19359612C>G | CA412397102 | PDHA1 | c.1153C>G (p.Arg385Gly) c.*824C>G (n.*824C>G) c.1216C>G (p.Arg406Gly) c.1246C>G (p.Arg416Gly) n.927C>G c.*464C>G (n.*464C>G) c.*587C>G (n.*587C>G) c.1132C>G (p.Arg378Gly) c.289C>G (p.Arg97Gly) n.571C>G c.1039C>G (p.Arg347Gly) c.1267C>G (p.Arg423Gly) c.1174C>G (p.Arg392Gly) | |
X | g.19359612C>T | CA323094 | PDHA1 | c.1153C>T (p.Arg385Cys) c.*824C>T (n.*824C>T) c.1216C>T (p.Arg406Cys) c.1246C>T (p.Arg416Cys) n.927C>T c.*464C>T (n.*464C>T) c.*587C>T (n.*587C>T) c.1132C>T (p.Arg378Cys) c.289C>T (p.Arg97Cys) n.571C>T c.1039C>T (p.Arg347Cys) c.1267C>T (p.Arg423Cys) c.1174C>T (p.Arg392Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.19359613_19359620del | CA2573055208 | PDHA1 | c.1154_1161del (p.Arg385GlnfsTer7) c.*825_*832del (n.*825_*832del) c.1217_1224del (p.Arg406GlnfsTer7) c.1247_1254del (p.Arg416GlnfsTer7) n.928_935del c.*465_*472del (n.*465_*472del) c.*588_*595del (n.*588_*595del) c.1133_1140del (p.Arg378GlnfsTer7) c.290_297del (p.Arg97GlnfsTer7) n.572_579del c.1040_1047del (p.Arg347GlnfsTer7) c.1268_1275del (p.Arg423GlnfsTer7) c.1175_1182del (p.Arg392GlnfsTer7) | ClinVar dbSNP |
X | g.19359613G>A | CA121205 | PDHA1 | c.1154G>A (p.Arg385His) c.*825G>A (n.*825G>A) c.1217G>A (p.Arg406His) c.1247G>A (p.Arg416His) n.928G>A c.*465G>A (n.*465G>A) c.*588G>A (n.*588G>A) c.1133G>A (p.Arg378His) c.290G>A (p.Arg97His) n.572G>A c.1040G>A (p.Arg347His) c.1268G>A (p.Arg423His) c.1175G>A (p.Arg392His) | ClinVar dbSNP ExAC |
X | g.19359613G>C | CA412397111 | PDHA1 | c.1154G>C (p.Arg385Pro) c.*825G>C (n.*825G>C) c.1217G>C (p.Arg406Pro) c.1247G>C (p.Arg416Pro) n.928G>C c.*465G>C (n.*465G>C) c.*588G>C (n.*588G>C) c.1133G>C (p.Arg378Pro) c.290G>C (p.Arg97Pro) n.572G>C c.1040G>C (p.Arg347Pro) c.1268G>C (p.Arg423Pro) c.1175G>C (p.Arg392Pro) | |
X | g.19359613G= | CA2418225608 | PDHA1 | c.1154G= (p.Arg385=) c.*825G= (n.*825G=) c.1217G= (p.Arg406=) c.1247G= (p.Arg416=) n.928G= c.*465G= (n.*465G=) c.*588G= (n.*588G=) c.1133G= (p.Arg378=) c.290G= (p.Arg97=) n.572G= c.1040G= (p.Arg347=) c.1268G= (p.Arg423=) c.1175G= (p.Arg392=) | |
X | g.19359613G>T | CA10605241 | PDHA1 | c.1154G>T (p.Arg385Leu) c.*825G>T (n.*825G>T) c.1217G>T (p.Arg406Leu) c.1247G>T (p.Arg416Leu) n.928G>T c.*465G>T (n.*465G>T) c.*588G>T (n.*588G>T) c.1133G>T (p.Arg378Leu) c.290G>T (p.Arg97Leu) n.572G>T c.1040G>T (p.Arg347Leu) c.1268G>T (p.Arg423Leu) c.1175G>T (p.Arg392Leu) | ClinVar dbSNP |
X | g.19359614T>A | CA515486475 | PDHA1 | c.1155T>A (p.Arg385=) c.*826T>A (n.*826T>A) c.1218T>A (p.Arg406=) c.1248T>A (p.Arg416=) n.929T>A c.*466T>A (n.*466T>A) c.*589T>A (n.*589T>A) c.1134T>A (p.Arg378=) c.291T>A (p.Arg97=) n.573T>A c.1041T>A (p.Arg347=) c.1269T>A (p.Arg423=) c.1176T>A (p.Arg392=) | gnomAD v3 gnomAD v4 |
X | g.19359614T>C | CA515486476 | PDHA1 | c.1155T>C (p.Arg385=) c.*826T>C (n.*826T>C) c.1218T>C (p.Arg406=) c.1248T>C (p.Arg416=) n.929T>C c.*466T>C (n.*466T>C) c.*589T>C (n.*589T>C) c.1134T>C (p.Arg378=) c.291T>C (p.Arg97=) n.573T>C c.1041T>C (p.Arg347=) c.1269T>C (p.Arg423=) c.1176T>C (p.Arg392=) | |
X | g.19359614T>G | CA515486477 | PDHA1 | c.1155T>G (p.Arg385=) c.*826T>G (n.*826T>G) c.1218T>G (p.Arg406=) c.1248T>G (p.Arg416=) n.929T>G c.*466T>G (n.*466T>G) c.*589T>G (n.*589T>G) c.1134T>G (p.Arg378=) c.291T>G (p.Arg97=) n.573T>G c.1041T>G (p.Arg347=) c.1269T>G (p.Arg423=) c.1176T>G (p.Arg392=) | |
X | g.19359615G>A | CA412397120 | PDHA1 | c.1156G>A (p.Gly386Ser) c.*827G>A (n.*827G>A) c.1219G>A (p.Gly407Ser) c.1249G>A (p.Gly417Ser) n.930G>A c.*467G>A (n.*467G>A) c.*590G>A (n.*590G>A) c.1135G>A (p.Gly379Ser) c.292G>A (p.Gly98Ser) n.574G>A c.1042G>A (p.Gly348Ser) c.1270G>A (p.Gly424Ser) c.1177G>A (p.Gly393Ser) | |
X | g.19359615G>C | CA412397123 | PDHA1 | c.1156G>C (p.Gly386Arg) c.*827G>C (n.*827G>C) c.1219G>C (p.Gly407Arg) c.1249G>C (p.Gly417Arg) n.930G>C c.*467G>C (n.*467G>C) c.*590G>C (n.*590G>C) c.1135G>C (p.Gly379Arg) c.292G>C (p.Gly98Arg) n.574G>C c.1042G>C (p.Gly348Arg) c.1270G>C (p.Gly424Arg) c.1177G>C (p.Gly393Arg) | |
X | g.19359615G>T | CA412397125 | PDHA1 | c.1156G>T (p.Gly386Cys) c.*827G>T (n.*827G>T) c.1219G>T (p.Gly407Cys) c.1249G>T (p.Gly417Cys) n.930G>T c.*467G>T (n.*467G>T) c.*590G>T (n.*590G>T) c.1135G>T (p.Gly379Cys) c.292G>T (p.Gly98Cys) n.574G>T c.1042G>T (p.Gly348Cys) c.1270G>T (p.Gly424Cys) c.1177G>T (p.Gly393Cys) | |
X | g.19359616G>A | CA412397136 | PDHA1 | c.1157G>A (p.Gly386Asp) c.*828G>A (n.*828G>A) c.1220G>A (p.Gly407Asp) c.1250G>A (p.Gly417Asp) n.931G>A c.*468G>A (n.*468G>A) c.*591G>A (n.*591G>A) c.1136G>A (p.Gly379Asp) c.293G>A (p.Gly98Asp) n.575G>A c.1043G>A (p.Gly348Asp) c.1271G>A (p.Gly424Asp) c.1178G>A (p.Gly393Asp) | |
X | g.19359616G>C | CA412397130 | PDHA1 | c.1157G>C (p.Gly386Ala) c.*828G>C (n.*828G>C) c.1220G>C (p.Gly407Ala) c.1250G>C (p.Gly417Ala) n.931G>C c.*468G>C (n.*468G>C) c.*591G>C (n.*591G>C) c.1136G>C (p.Gly379Ala) c.293G>C (p.Gly98Ala) n.575G>C c.1043G>C (p.Gly348Ala) c.1271G>C (p.Gly424Ala) c.1178G>C (p.Gly393Ala) | |
X | g.19359616G>T | CA412397133 | PDHA1 | c.1157G>T (p.Gly386Val) c.*828G>T (n.*828G>T) c.1220G>T (p.Gly407Val) c.1250G>T (p.Gly417Val) n.931G>T c.*468G>T (n.*468G>T) c.*591G>T (n.*591G>T) c.1136G>T (p.Gly379Val) c.293G>T (p.Gly98Val) n.575G>T c.1043G>T (p.Gly348Val) c.1271G>T (p.Gly424Val) c.1178G>T (p.Gly393Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.19359617T>A | CA515486478 | PDHA1 | c.1158T>A (p.Gly386=) c.*829T>A (n.*829T>A) c.1221T>A (p.Gly407=) c.1251T>A (p.Gly417=) n.932T>A c.*469T>A (n.*469T>A) c.*592T>A (n.*592T>A) c.1137T>A (p.Gly379=) c.294T>A (p.Gly98=) n.576T>A c.1044T>A (p.Gly348=) c.1272T>A (p.Gly424=) c.1179T>A (p.Gly393=) | |
X | g.19359617T>C | CA10363218 | PDHA1 | c.1158T>C (p.Gly386=) c.*829T>C (n.*829T>C) c.1221T>C (p.Gly407=) c.1251T>C (p.Gly417=) n.932T>C c.*469T>C (n.*469T>C) c.*592T>C (n.*592T>C) c.1137T>C (p.Gly379=) c.294T>C (p.Gly98=) n.576T>C c.1044T>C (p.Gly348=) c.1272T>C (p.Gly424=) c.1179T>C (p.Gly393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359617T>G | CA515486479 | PDHA1 | c.1158T>G (p.Gly386=) c.*829T>G (n.*829T>G) c.1221T>G (p.Gly407=) c.1251T>G (p.Gly417=) n.932T>G c.*469T>G (n.*469T>G) c.*592T>G (n.*592T>G) c.1137T>G (p.Gly379=) c.294T>G (p.Gly98=) n.576T>G c.1044T>G (p.Gly348=) c.1272T>G (p.Gly424=) c.1179T>G (p.Gly393=) | |
X | g.19359617T= | CA2418225609 | PDHA1 | c.1158T= (p.Gly386=) c.*829T= (n.*829T=) c.1221T= (p.Gly407=) c.1251T= (p.Gly417=) n.932T= c.*469T= (n.*469T=) c.*592T= (n.*592T=) c.1137T= (p.Gly379=) c.294T= (p.Gly98=) n.576T= c.1044T= (p.Gly348=) c.1272T= (p.Gly424=) c.1179T= (p.Gly393=) | |
X | g.19359618G>A | CA412397143 | PDHA1 | c.1159G>A (p.Ala387Thr) c.*830G>A (n.*830G>A) c.1222G>A (p.Ala408Thr) c.1252G>A (p.Ala418Thr) n.933G>A c.*470G>A (n.*470G>A) c.*593G>A (n.*593G>A) c.1138G>A (p.Ala380Thr) c.295G>A (p.Ala99Thr) n.577G>A c.1045G>A (p.Ala349Thr) c.1273G>A (p.Ala425Thr) c.1180G>A (p.Ala394Thr) | |
X | g.19359618G>C | CA412397146 | PDHA1 | c.1159G>C (p.Ala387Pro) c.*830G>C (n.*830G>C) c.1222G>C (p.Ala408Pro) c.1252G>C (p.Ala418Pro) n.933G>C c.*470G>C (n.*470G>C) c.*593G>C (n.*593G>C) c.1138G>C (p.Ala380Pro) c.295G>C (p.Ala99Pro) n.577G>C c.1045G>C (p.Ala349Pro) c.1273G>C (p.Ala425Pro) c.1180G>C (p.Ala394Pro) | |
X | g.19359618G>T | CA412397149 | PDHA1 | c.1159G>T (p.Ala387Ser) c.*830G>T (n.*830G>T) c.1222G>T (p.Ala408Ser) c.1252G>T (p.Ala418Ser) n.933G>T c.*470G>T (n.*470G>T) c.*593G>T (n.*593G>T) c.1138G>T (p.Ala380Ser) c.295G>T (p.Ala99Ser) n.577G>T c.1045G>T (p.Ala349Ser) c.1273G>T (p.Ala425Ser) c.1180G>T (p.Ala394Ser) | |
X | g.19359619C>A | CA412397157 | PDHA1 | c.1160C>A (p.Ala387Asp) c.*831C>A (n.*831C>A) c.1223C>A (p.Ala408Asp) c.1253C>A (p.Ala418Asp) n.934C>A c.*471C>A (n.*471C>A) c.*594C>A (n.*594C>A) c.1139C>A (p.Ala380Asp) c.296C>A (p.Ala99Asp) n.578C>A c.1046C>A (p.Ala349Asp) c.1274C>A (p.Ala425Asp) c.1181C>A (p.Ala394Asp) | |
X | g.19359619C= | CA2418225610 | PDHA1 | c.1160C= (p.Ala387=) c.*831C= (n.*831C=) c.1223C= (p.Ala408=) c.1253C= (p.Ala418=) n.934C= c.*471C= (n.*471C=) c.*594C= (n.*594C=) c.1139C= (p.Ala380=) c.296C= (p.Ala99=) n.578C= c.1046C= (p.Ala349=) c.1274C= (p.Ala425=) c.1181C= (p.Ala394=) | |
X | g.19359619C>G | CA412397161 | PDHA1 | c.1160C>G (p.Ala387Gly) c.*831C>G (n.*831C>G) c.1223C>G (p.Ala408Gly) c.1253C>G (p.Ala418Gly) n.934C>G c.*471C>G (n.*471C>G) c.*594C>G (n.*594C>G) c.1139C>G (p.Ala380Gly) c.296C>G (p.Ala99Gly) n.578C>G c.1046C>G (p.Ala349Gly) c.1274C>G (p.Ala425Gly) c.1181C>G (p.Ala394Gly) | |
X | g.19359619C>T | CA412397163 | PDHA1 | c.1160C>T (p.Ala387Val) c.*831C>T (n.*831C>T) c.1223C>T (p.Ala408Val) c.1253C>T (p.Ala418Val) n.934C>T c.*471C>T (n.*471C>T) c.*594C>T (n.*594C>T) c.1139C>T (p.Ala380Val) c.296C>T (p.Ala99Val) n.578C>T c.1046C>T (p.Ala349Val) c.1274C>T (p.Ala425Val) c.1181C>T (p.Ala394Val) | gnomAD v4 |
X | g.19359619_19359622dup | CA2695231676 | PDHA1 | c.1160_1163dup (p.Trp390SerfsTer6) c.*831_*834dup (n.*831_*834dup) c.1223_1226dup (p.Trp411SerfsTer6) c.1253_1256dup (p.Trp421SerfsTer6) n.934_937dup c.*471_*474dup (n.*471_*474dup) c.*594_*597dup (n.*594_*597dup) c.1139_1142dup (p.Trp383SerfsTer6) c.296_299dup (p.Trp102SerfsTer6) n.578_581dup c.1046_1049dup (p.Trp352SerfsTer6) c.1274_1277dup (p.Trp428SerfsTer6) c.1181_1184dup (p.Trp397SerfsTer6) | |
X | g.19359620C>A | CA515486481 | PDHA1 | c.1161C>A (p.Ala387=) c.*832C>A (n.*832C>A) c.1224C>A (p.Ala408=) c.1254C>A (p.Ala418=) n.935C>A c.*472C>A (n.*472C>A) c.*595C>A (n.*595C>A) c.1140C>A (p.Ala380=) c.297C>A (p.Ala99=) n.579C>A c.1047C>A (p.Ala349=) c.1275C>A (p.Ala425=) c.1182C>A (p.Ala394=) | |
X | g.19359620C>G | CA515486482 | PDHA1 | c.1161C>G (p.Ala387=) c.*832C>G (n.*832C>G) c.1224C>G (p.Ala408=) c.1254C>G (p.Ala418=) n.935C>G c.*472C>G (n.*472C>G) c.*595C>G (n.*595C>G) c.1140C>G (p.Ala380=) c.297C>G (p.Ala99=) n.579C>G c.1047C>G (p.Ala349=) c.1275C>G (p.Ala425=) c.1182C>G (p.Ala394=) | |
X | g.19359620C>T | CA515486480 | PDHA1 | c.1161C>T (p.Ala387=) c.*832C>T (n.*832C>T) c.1224C>T (p.Ala408=) c.1254C>T (p.Ala418=) n.935C>T c.*472C>T (n.*472C>T) c.*595C>T (n.*595C>T) c.1140C>T (p.Ala380=) c.297C>T (p.Ala99=) n.579C>T c.1047C>T (p.Ala349=) c.1275C>T (p.Ala425=) c.1182C>T (p.Ala394=) | |
X | g.19359622_19359625dup | CA121215 | PDHA1 | c.1163_1166dup (p.Trp390SerfsTer6) c.*834_*837dup (n.*834_*837dup) c.1226_1229dup (p.Trp411SerfsTer6) c.1256_1259dup (p.Trp421SerfsTer6) n.937_940dup c.*474_*477dup (n.*474_*477dup) c.*597_*600dup (n.*597_*600dup) c.1142_1145dup (p.Trp383SerfsTer6) c.299_302dup (p.Trp102SerfsTer6) n.581_584dup c.1049_1052dup (p.Trp352SerfsTer6) c.1277_1280dup (p.Trp428SerfsTer6) c.1184_1187dup (p.Trp397SerfsTer6) | ClinVar dbSNP |
X | g.19359621A>C | CA412397173 | PDHA1 | c.1162A>C (p.Asn388His) c.*833A>C (n.*833A>C) c.1225A>C (p.Asn409His) c.1255A>C (p.Asn419His) n.936A>C c.*473A>C (n.*473A>C) c.*596A>C (n.*596A>C) c.1141A>C (p.Asn381His) c.298A>C (p.Asn100His) n.580A>C c.1048A>C (p.Asn350His) c.1276A>C (p.Asn426His) c.1183A>C (p.Asn395His) | |
X | g.19359621A>G | CA412397175 | PDHA1 | c.1162A>G (p.Asn388Asp) c.*833A>G (n.*833A>G) c.1225A>G (p.Asn409Asp) c.1255A>G (p.Asn419Asp) n.936A>G c.*473A>G (n.*473A>G) c.*596A>G (n.*596A>G) c.1141A>G (p.Asn381Asp) c.298A>G (p.Asn100Asp) n.580A>G c.1048A>G (p.Asn350Asp) c.1276A>G (p.Asn426Asp) c.1183A>G (p.Asn395Asp) | |
X | g.19359621A>T | CA412397179 | PDHA1 | c.1162A>T (p.Asn388Tyr) c.*833A>T (n.*833A>T) c.1225A>T (p.Asn409Tyr) c.1255A>T (p.Asn419Tyr) n.936A>T c.*473A>T (n.*473A>T) c.*596A>T (n.*596A>T) c.1141A>T (p.Asn381Tyr) c.298A>T (p.Asn100Tyr) n.580A>T c.1048A>T (p.Asn350Tyr) c.1276A>T (p.Asn426Tyr) c.1183A>T (p.Asn395Tyr) | |
X | g.19359622A= | CA2418225611 | PDHA1 | c.1163A= (p.Asn388=) c.*834A= (n.*834A=) c.1226A= (p.Asn409=) c.1256A= (p.Asn419=) n.937A= c.*474A= (n.*474A=) c.*597A= (n.*597A=) c.1142A= (p.Asn381=) c.299A= (p.Asn100=) n.581A= c.1049A= (p.Asn350=) c.1277A= (p.Asn426=) c.1184A= (p.Asn395=) | |
X | g.19359622A>C | CA412397186 | PDHA1 | c.1163A>C (p.Asn388Thr) c.*834A>C (n.*834A>C) c.1226A>C (p.Asn409Thr) c.1256A>C (p.Asn419Thr) n.937A>C c.*474A>C (n.*474A>C) c.*597A>C (n.*597A>C) c.1142A>C (p.Asn381Thr) c.299A>C (p.Asn100Thr) n.581A>C c.1049A>C (p.Asn350Thr) c.1277A>C (p.Asn426Thr) c.1184A>C (p.Asn395Thr) | |
X | g.19359622A>G | CA412397183 | PDHA1 | c.1163A>G (p.Asn388Ser) c.*834A>G (n.*834A>G) c.1226A>G (p.Asn409Ser) c.1256A>G (p.Asn419Ser) n.937A>G c.*474A>G (n.*474A>G) c.*597A>G (n.*597A>G) c.1142A>G (p.Asn381Ser) c.299A>G (p.Asn100Ser) n.581A>G c.1049A>G (p.Asn350Ser) c.1277A>G (p.Asn426Ser) c.1184A>G (p.Asn395Ser) | ClinVar dbSNP gnomAD v4 |
X | g.19359622A>T | CA412397189 | PDHA1 | c.1163A>T (p.Asn388Ile) c.*834A>T (n.*834A>T) c.1226A>T (p.Asn409Ile) c.1256A>T (p.Asn419Ile) n.937A>T c.*474A>T (n.*474A>T) c.*597A>T (n.*597A>T) c.1142A>T (p.Asn381Ile) c.299A>T (p.Asn100Ile) n.581A>T c.1049A>T (p.Asn350Ile) c.1277A>T (p.Asn426Ile) c.1184A>T (p.Asn395Ile) | |
X | g.19359623_19359625dup | CA2825002903 | PDHA1 | c.1164_1166dup (p.Asn388_Gln389insHis) c.*835_*837dup (n.*835_*837dup) c.1227_1229dup (p.Asn409_Gln410insHis) c.1257_1259dup (p.Asn419_Gln420insHis) n.938_940dup c.*475_*477dup (n.*475_*477dup) c.*598_*600dup (n.*598_*600dup) c.1143_1145dup (p.Asn381_Gln382insHis) c.300_302dup (p.Asn100_Gln101insHis) n.582_584dup c.1050_1052dup (p.Asn350_Gln351insHis) c.1278_1280dup (p.Asn426_Gln427insHis) c.1185_1187dup (p.Asn395_Gln396insHis) | ClinVar |
X | g.19359626_19359633del | CA2695231677 | PDHA1 | c.1167_1174del (p.Trp390ValfsTer2) c.*838_*845del (n.*838_*845del) c.1230_1237del (p.Trp411ValfsTer2) c.1260_1267del (p.Trp421ValfsTer2) n.941_948del c.*478_*485del (n.*478_*485del) c.*601_*608del (n.*601_*608del) c.1146_1153del (p.Trp383ValfsTer2) c.303_310del (p.Trp102ValfsTer2) n.585_592del c.1053_1060del (p.Trp352ValfsTer2) c.1281_1288del (p.Trp428ValfsTer2) c.1188_1195del (p.Trp397ValfsTer2) | |
X | g.19359623T>A | CA412397193 | PDHA1 | c.1164T>A (p.Asn388Lys) c.*835T>A (n.*835T>A) c.1227T>A (p.Asn409Lys) c.1257T>A (p.Asn419Lys) n.938T>A c.*475T>A (n.*475T>A) c.*598T>A (n.*598T>A) c.1143T>A (p.Asn381Lys) c.300T>A (p.Asn100Lys) n.582T>A c.1050T>A (p.Asn350Lys) c.1278T>A (p.Asn426Lys) c.1185T>A (p.Asn395Lys) | |
X | g.19359623T>C | CA515486483 | PDHA1 | c.1164T>C (p.Asn388=) c.*835T>C (n.*835T>C) c.1227T>C (p.Asn409=) c.1257T>C (p.Asn419=) n.938T>C c.*475T>C (n.*475T>C) c.*598T>C (n.*598T>C) c.1143T>C (p.Asn381=) c.300T>C (p.Asn100=) n.582T>C c.1050T>C (p.Asn350=) c.1278T>C (p.Asn426=) c.1185T>C (p.Asn395=) | |
X | g.19359623T>G | CA412397194 | PDHA1 | c.1164T>G (p.Asn388Lys) c.*835T>G (n.*835T>G) c.1227T>G (p.Asn409Lys) c.1257T>G (p.Asn419Lys) n.938T>G c.*475T>G (n.*475T>G) c.*598T>G (n.*598T>G) c.1143T>G (p.Asn381Lys) c.300T>G (p.Asn100Lys) n.582T>G c.1050T>G (p.Asn350Lys) c.1278T>G (p.Asn426Lys) c.1185T>G (p.Asn395Lys) | ClinVar |
X | g.19359624C>A | CA412397195 | PDHA1 | c.1165C>A (p.Gln389Lys) c.*836C>A (n.*836C>A) c.1228C>A (p.Gln410Lys) c.1258C>A (p.Gln420Lys) n.939C>A c.*476C>A (n.*476C>A) c.*599C>A (n.*599C>A) c.1144C>A (p.Gln382Lys) c.301C>A (p.Gln101Lys) n.583C>A c.1051C>A (p.Gln351Lys) c.1279C>A (p.Gln427Lys) c.1186C>A (p.Gln396Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.19359624C= | CA2418225612 | PDHA1 | c.1165C= (p.Gln389=) c.*836C= (n.*836C=) c.1228C= (p.Gln410=) c.1258C= (p.Gln420=) n.939C= c.*476C= (n.*476C=) c.*599C= (n.*599C=) c.1144C= (p.Gln382=) c.301C= (p.Gln101=) n.583C= c.1051C= (p.Gln351=) c.1279C= (p.Gln427=) c.1186C= (p.Gln396=) | |
X | g.19359624C>G | CA412397198 | PDHA1 | c.1165C>G (p.Gln389Glu) c.*836C>G (n.*836C>G) c.1228C>G (p.Gln410Glu) c.1258C>G (p.Gln420Glu) n.939C>G c.*476C>G (n.*476C>G) c.*599C>G (n.*599C>G) c.1144C>G (p.Gln382Glu) c.301C>G (p.Gln101Glu) n.583C>G c.1051C>G (p.Gln351Glu) c.1279C>G (p.Gln427Glu) c.1186C>G (p.Gln396Glu) | |
X | g.19359624C>T | CA412397200 | PDHA1 | c.1165C>T (p.Gln389Ter) c.*836C>T (n.*836C>T) c.1228C>T (p.Gln410Ter) c.1258C>T (p.Gln420Ter) n.939C>T c.*476C>T (n.*476C>T) c.*599C>T (n.*599C>T) c.1144C>T (p.Gln382Ter) c.301C>T (p.Gln101Ter) n.583C>T c.1051C>T (p.Gln351Ter) c.1279C>T (p.Gln427Ter) c.1186C>T (p.Gln396Ter) | |
X | g.19359624_19359639dup | CA2695231678 | PDHA1 | c.1165_1180dup (p.Lys394ThrfsTer6) c.*836_*851dup (n.*836_*851dup) c.1228_1243dup (p.Lys415ThrfsTer6) c.1258_1273dup (p.Lys425ThrfsTer6) n.939_954dup c.*476_*491dup (n.*476_*491dup) c.*599_*614dup (n.*599_*614dup) c.1144_1159dup (p.Lys387ThrfsTer6) c.301_316dup (p.Lys106ThrfsTer6) n.583_598dup c.1051_1066dup (p.Lys356ThrfsTer6) c.1279_1294dup (p.Lys432ThrfsTer6) c.1186_1201dup (p.Lys401ThrfsTer6) | |
X | g.19359625A>C | CA412397205 | PDHA1 | c.1166A>C (p.Gln389Pro) c.*837A>C (n.*837A>C) c.1229A>C (p.Gln410Pro) c.1259A>C (p.Gln420Pro) n.940A>C c.*477A>C (n.*477A>C) c.*600A>C (n.*600A>C) c.1145A>C (p.Gln382Pro) c.302A>C (p.Gln101Pro) n.584A>C c.1052A>C (p.Gln351Pro) c.1280A>C (p.Gln427Pro) c.1187A>C (p.Gln396Pro) | |
X | g.19359625A>G | CA412397209 | PDHA1 | c.1166A>G (p.Gln389Arg) c.*837A>G (n.*837A>G) c.1229A>G (p.Gln410Arg) c.1259A>G (p.Gln420Arg) n.940A>G c.*477A>G (n.*477A>G) c.*600A>G (n.*600A>G) c.1145A>G (p.Gln382Arg) c.302A>G (p.Gln101Arg) n.584A>G c.1052A>G (p.Gln351Arg) c.1280A>G (p.Gln427Arg) c.1187A>G (p.Gln396Arg) | |
X | g.19359625A>T | CA412397212 | PDHA1 | c.1166A>T (p.Gln389Leu) c.*837A>T (n.*837A>T) c.1229A>T (p.Gln410Leu) c.1259A>T (p.Gln420Leu) n.940A>T c.*477A>T (n.*477A>T) c.*600A>T (n.*600A>T) c.1145A>T (p.Gln382Leu) c.302A>T (p.Gln101Leu) n.584A>T c.1052A>T (p.Gln351Leu) c.1280A>T (p.Gln427Leu) c.1187A>T (p.Gln396Leu) | |
X | g.19359626G>A | CA515486484 | PDHA1 | c.1167G>A (p.Gln389=) c.*838G>A (n.*838G>A) c.1230G>A (p.Gln410=) c.1260G>A (p.Gln420=) n.941G>A c.*478G>A (n.*478G>A) c.*601G>A (n.*601G>A) c.1146G>A (p.Gln382=) c.303G>A (p.Gln101=) n.585G>A c.1053G>A (p.Gln351=) c.1281G>A (p.Gln427=) c.1188G>A (p.Gln396=) | ClinVar dbSNP gnomAD v4 |
X | g.19359626G>C | CA10363219 | PDHA1 | c.1167G>C (p.Gln389His) c.*838G>C (n.*838G>C) c.1230G>C (p.Gln410His) c.1260G>C (p.Gln420His) n.941G>C c.*478G>C (n.*478G>C) c.*601G>C (n.*601G>C) c.1146G>C (p.Gln382His) c.303G>C (p.Gln101His) n.585G>C c.1053G>C (p.Gln351His) c.1281G>C (p.Gln427His) c.1188G>C (p.Gln396His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359626G= | CA2418225613 | PDHA1 | c.1167G= (p.Gln389=) c.*838G= (n.*838G=) c.1230G= (p.Gln410=) c.1260G= (p.Gln420=) n.941G= c.*478G= (n.*478G=) c.*601G= (n.*601G=) c.1146G= (p.Gln382=) c.303G= (p.Gln101=) n.585G= c.1053G= (p.Gln351=) c.1281G= (p.Gln427=) c.1188G= (p.Gln396=) | |
X | g.19359626G>T | CA412397225 | PDHA1 | c.1167G>T (p.Gln389His) c.*838G>T (n.*838G>T) c.1230G>T (p.Gln410His) c.1260G>T (p.Gln420His) n.941G>T c.*478G>T (n.*478G>T) c.*601G>T (n.*601G>T) c.1146G>T (p.Gln382His) c.303G>T (p.Gln101His) n.585G>T c.1053G>T (p.Gln351His) c.1281G>T (p.Gln427His) c.1188G>T (p.Gln396His) | |
X | g.19359627T>A | CA412397239 | PDHA1 | c.1168T>A (p.Trp390Arg) c.*839T>A (n.*839T>A) c.1231T>A (p.Trp411Arg) c.1261T>A (p.Trp421Arg) n.942T>A c.*479T>A (n.*479T>A) c.*602T>A (n.*602T>A) c.1147T>A (p.Trp383Arg) c.304T>A (p.Trp102Arg) n.586T>A c.1054T>A (p.Trp352Arg) c.1282T>A (p.Trp428Arg) c.1189T>A (p.Trp397Arg) | |
X | g.19359627T>C | CA412397236 | PDHA1 | c.1168T>C (p.Trp390Arg) c.*839T>C (n.*839T>C) c.1231T>C (p.Trp411Arg) c.1261T>C (p.Trp421Arg) n.942T>C c.*479T>C (n.*479T>C) c.*602T>C (n.*602T>C) c.1147T>C (p.Trp383Arg) c.304T>C (p.Trp102Arg) n.586T>C c.1054T>C (p.Trp352Arg) c.1282T>C (p.Trp428Arg) c.1189T>C (p.Trp397Arg) | |
X | g.19359627T>G | CA412397229 | PDHA1 | c.1168T>G (p.Trp390Gly) c.*839T>G (n.*839T>G) c.1231T>G (p.Trp411Gly) c.1261T>G (p.Trp421Gly) n.942T>G c.*479T>G (n.*479T>G) c.*602T>G (n.*602T>G) c.1147T>G (p.Trp383Gly) c.304T>G (p.Trp102Gly) n.586T>G c.1054T>G (p.Trp352Gly) c.1282T>G (p.Trp428Gly) c.1189T>G (p.Trp397Gly) | |
X | g.19359627_19359638dup | CA2695231679 | PDHA1 | c.1168_1179dup (p.Phe393_Lys394insTrpIleLysPhe) c.*839_*850dup (n.*839_*850dup) c.1231_1242dup (p.Phe414_Lys415insTrpIleLysPhe) c.1261_1272dup (p.Phe424_Lys425insTrpIleLysPhe) n.942_953dup c.*479_*490dup (n.*479_*490dup) c.*602_*613dup (n.*602_*613dup) c.1147_1158dup (p.Phe386_Lys387insTrpIleLysPhe) c.304_315dup (p.Phe105_Lys106insTrpIleLysPhe) n.586_597dup c.1054_1065dup (p.Phe355_Lys356insTrpIleLysPhe) c.1282_1293dup (p.Phe431_Lys432insTrpIleLysPhe) c.1189_1200dup (p.Phe400_Lys401insTrpIleLysPhe) | |
X | g.19359628G>A | CA412397247 | PDHA1 | c.1169G>A (p.Trp390Ter) c.*840G>A (n.*840G>A) c.1232G>A (p.Trp411Ter) c.1262G>A (p.Trp421Ter) n.943G>A c.*480G>A (n.*480G>A) c.*603G>A (n.*603G>A) c.1148G>A (p.Trp383Ter) c.305G>A (p.Trp102Ter) n.587G>A c.1055G>A (p.Trp352Ter) c.1283G>A (p.Trp428Ter) c.1190G>A (p.Trp397Ter) | ClinVar |
X | g.19359628G>C | CA412397251 | PDHA1 | c.1169G>C (p.Trp390Ser) c.*840G>C (n.*840G>C) c.1232G>C (p.Trp411Ser) c.1262G>C (p.Trp421Ser) n.943G>C c.*480G>C (n.*480G>C) c.*603G>C (n.*603G>C) c.1148G>C (p.Trp383Ser) c.305G>C (p.Trp102Ser) n.587G>C c.1055G>C (p.Trp352Ser) c.1283G>C (p.Trp428Ser) c.1190G>C (p.Trp397Ser) | |
X | g.19359628G>T | CA412397252 | PDHA1 | c.1169G>T (p.Trp390Leu) c.*840G>T (n.*840G>T) c.1232G>T (p.Trp411Leu) c.1262G>T (p.Trp421Leu) n.943G>T c.*480G>T (n.*480G>T) c.*603G>T (n.*603G>T) c.1148G>T (p.Trp383Leu) c.305G>T (p.Trp102Leu) n.587G>T c.1055G>T (p.Trp352Leu) c.1283G>T (p.Trp428Leu) c.1190G>T (p.Trp397Leu) | |
X | g.19359629G>A | CA412397253 | PDHA1 | c.1170G>A (p.Trp390Ter) c.*841G>A (n.*841G>A) c.1233G>A (p.Trp411Ter) c.1263G>A (p.Trp421Ter) n.944G>A c.*481G>A (n.*481G>A) c.*604G>A (n.*604G>A) c.1149G>A (p.Trp383Ter) c.306G>A (p.Trp102Ter) n.588G>A c.1056G>A (p.Trp352Ter) c.1284G>A (p.Trp428Ter) c.1191G>A (p.Trp397Ter) | ClinVar |
X | g.19359629G>C | CA412397255 | PDHA1 | c.1170G>C (p.Trp390Cys) c.*841G>C (n.*841G>C) c.1233G>C (p.Trp411Cys) c.1263G>C (p.Trp421Cys) n.944G>C c.*481G>C (n.*481G>C) c.*604G>C (n.*604G>C) c.1149G>C (p.Trp383Cys) c.306G>C (p.Trp102Cys) n.588G>C c.1056G>C (p.Trp352Cys) c.1284G>C (p.Trp428Cys) c.1191G>C (p.Trp397Cys) | |
X | g.19359629G>T | CA412397259 | PDHA1 | c.1170G>T (p.Trp390Cys) c.*841G>T (n.*841G>T) c.1233G>T (p.Trp411Cys) c.1263G>T (p.Trp421Cys) n.944G>T c.*481G>T (n.*481G>T) c.*604G>T (n.*604G>T) c.1149G>T (p.Trp383Cys) c.306G>T (p.Trp102Cys) n.588G>T c.1056G>T (p.Trp352Cys) c.1284G>T (p.Trp428Cys) c.1191G>T (p.Trp397Cys) | |
X | g.19359630A= | CA2418225614 | PDHA1 | c.1171A= (p.Ile391=) c.*842A= (n.*842A=) c.1234A= (p.Ile412=) c.1264A= (p.Ile422=) n.945A= c.*482A= (n.*482A=) c.*605A= (n.*605A=) c.1150A= (p.Ile384=) c.307A= (p.Ile103=) n.589A= c.1057A= (p.Ile353=) c.1285A= (p.Ile429=) c.1192A= (p.Ile398=) | |
X | g.19359630A>C | CA10363220 | PDHA1 | c.1171A>C (p.Ile391Leu) c.*842A>C (n.*842A>C) c.1234A>C (p.Ile412Leu) c.1264A>C (p.Ile422Leu) n.945A>C c.*482A>C (n.*482A>C) c.*605A>C (n.*605A>C) c.1150A>C (p.Ile384Leu) c.307A>C (p.Ile103Leu) n.589A>C c.1057A>C (p.Ile353Leu) c.1285A>C (p.Ile429Leu) c.1192A>C (p.Ile398Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359630A>G | CA412397269 | PDHA1 | c.1171A>G (p.Ile391Val) c.*842A>G (n.*842A>G) c.1234A>G (p.Ile412Val) c.1264A>G (p.Ile422Val) n.945A>G c.*482A>G (n.*482A>G) c.*605A>G (n.*605A>G) c.1150A>G (p.Ile384Val) c.307A>G (p.Ile103Val) n.589A>G c.1057A>G (p.Ile353Val) c.1285A>G (p.Ile429Val) c.1192A>G (p.Ile398Val) | |
X | g.19359630A>T | CA412397273 | PDHA1 | c.1171A>T (p.Ile391Phe) c.*842A>T (n.*842A>T) c.1234A>T (p.Ile412Phe) c.1264A>T (p.Ile422Phe) n.945A>T c.*482A>T (n.*482A>T) c.*605A>T (n.*605A>T) c.1150A>T (p.Ile384Phe) c.307A>T (p.Ile103Phe) n.589A>T c.1057A>T (p.Ile353Phe) c.1285A>T (p.Ile429Phe) c.1192A>T (p.Ile398Phe) | |
X | g.19359631T>A | CA412397280 | PDHA1 | c.1172T>A (p.Ile391Asn) c.*843T>A (n.*843T>A) c.1235T>A (p.Ile412Asn) c.1265T>A (p.Ile422Asn) n.946T>A c.*483T>A (n.*483T>A) c.*606T>A (n.*606T>A) c.1151T>A (p.Ile384Asn) c.308T>A (p.Ile103Asn) n.590T>A c.1058T>A (p.Ile353Asn) c.1286T>A (p.Ile429Asn) c.1193T>A (p.Ile398Asn) | |
X | g.19359631T>C | CA412397283 | PDHA1 | c.1172T>C (p.Ile391Thr) c.*843T>C (n.*843T>C) c.1235T>C (p.Ile412Thr) c.1265T>C (p.Ile422Thr) n.946T>C c.*483T>C (n.*483T>C) c.*606T>C (n.*606T>C) c.1151T>C (p.Ile384Thr) c.308T>C (p.Ile103Thr) n.590T>C c.1058T>C (p.Ile353Thr) c.1286T>C (p.Ile429Thr) c.1193T>C (p.Ile398Thr) | |
X | g.19359631T>G | CA412397288 | PDHA1 | c.1172T>G (p.Ile391Ser) c.*843T>G (n.*843T>G) c.1235T>G (p.Ile412Ser) c.1265T>G (p.Ile422Ser) n.946T>G c.*483T>G (n.*483T>G) c.*606T>G (n.*606T>G) c.1151T>G (p.Ile384Ser) c.308T>G (p.Ile103Ser) n.590T>G c.1058T>G (p.Ile353Ser) c.1286T>G (p.Ile429Ser) c.1193T>G (p.Ile398Ser) | |
X | g.19359632_19359651del | CA2697552884 | PDHA1 | c.1173_1192del (p.Lys392ArgfsTer?) c.*844_*863del (n.*844_*863del) c.1236_1255del (p.Lys413ArgfsTer?) c.1266_1285del (p.Lys423ArgfsTer?) n.947_966del c.*484_*503del (n.*484_*503del) c.*607_*626del (n.*607_*626del) c.1152_1171del (p.Lys385ArgfsTer?) c.309_328del (p.Lys104ArgfsTer?) n.591_610del c.1059_1078del (p.Lys354ArgfsTer?) c.1287_1306del (p.Lys430ArgfsTer?) c.1194_1213del (p.Lys399ArgfsTer?) | ClinVar |
X | g.19359632C>A | CA515486485 | PDHA1 | c.1173C>A (p.Ile391=) c.*844C>A (n.*844C>A) c.1236C>A (p.Ile412=) c.1266C>A (p.Ile422=) n.947C>A c.*484C>A (n.*484C>A) c.*607C>A (n.*607C>A) c.1152C>A (p.Ile384=) c.309C>A (p.Ile103=) n.591C>A c.1059C>A (p.Ile353=) c.1287C>A (p.Ile429=) c.1194C>A (p.Ile398=) | |
X | g.19359632C= | CA2418225615 | PDHA1 | c.1173C= (p.Ile391=) c.*844C= (n.*844C=) c.1236C= (p.Ile412=) c.1266C= (p.Ile422=) n.947C= c.*484C= (n.*484C=) c.*607C= (n.*607C=) c.1152C= (p.Ile384=) c.309C= (p.Ile103=) n.591C= c.1059C= (p.Ile353=) c.1287C= (p.Ile429=) c.1194C= (p.Ile398=) | |
X | g.19359632C>G | CA10363221 | PDHA1 | c.1173C>G (p.Ile391Met) c.*844C>G (n.*844C>G) c.1236C>G (p.Ile412Met) c.1266C>G (p.Ile422Met) n.947C>G c.*484C>G (n.*484C>G) c.*607C>G (n.*607C>G) c.1152C>G (p.Ile384Met) c.309C>G (p.Ile103Met) n.591C>G c.1059C>G (p.Ile353Met) c.1287C>G (p.Ile429Met) c.1194C>G (p.Ile398Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359632C>T | CA515486486 | PDHA1 | c.1173C>T (p.Ile391=) c.*844C>T (n.*844C>T) c.1236C>T (p.Ile412=) c.1266C>T (p.Ile422=) n.947C>T c.*484C>T (n.*484C>T) c.*607C>T (n.*607C>T) c.1152C>T (p.Ile384=) c.309C>T (p.Ile103=) n.591C>T c.1059C>T (p.Ile353=) c.1287C>T (p.Ile429=) c.1194C>T (p.Ile398=) | |
X | g.19359633A>C | CA412397293 | PDHA1 | c.1174A>C (p.Lys392Gln) c.*845A>C (n.*845A>C) c.1237A>C (p.Lys413Gln) c.1267A>C (p.Lys423Gln) n.948A>C c.*485A>C (n.*485A>C) c.*608A>C (n.*608A>C) c.1153A>C (p.Lys385Gln) c.310A>C (p.Lys104Gln) n.592A>C c.1060A>C (p.Lys354Gln) c.1288A>C (p.Lys430Gln) c.1195A>C (p.Lys399Gln) | |
X | g.19359633A>G | CA412397296 | PDHA1 | c.1174A>G (p.Lys392Glu) c.*845A>G (n.*845A>G) c.1237A>G (p.Lys413Glu) c.1267A>G (p.Lys423Glu) n.948A>G c.*485A>G (n.*485A>G) c.*608A>G (n.*608A>G) c.1153A>G (p.Lys385Glu) c.310A>G (p.Lys104Glu) n.592A>G c.1060A>G (p.Lys354Glu) c.1288A>G (p.Lys430Glu) c.1195A>G (p.Lys399Glu) | |
X | g.19359633A>T | CA412397292 | PDHA1 | c.1174A>T (p.Lys392Ter) c.*845A>T (n.*845A>T) c.1237A>T (p.Lys413Ter) c.1267A>T (p.Lys423Ter) n.948A>T c.*485A>T (n.*485A>T) c.*608A>T (n.*608A>T) c.1153A>T (p.Lys385Ter) c.310A>T (p.Lys104Ter) n.592A>T c.1060A>T (p.Lys354Ter) c.1288A>T (p.Lys430Ter) c.1195A>T (p.Lys399Ter) | |
X | g.19359633_19359635dup | CA2695231682 | PDHA1 | c.1174_1176dup (p.Lys392_Phe393insLys) c.*845_*847dup (n.*845_*847dup) c.1237_1239dup (p.Lys413_Phe414insLys) c.1267_1269dup (p.Lys423_Phe424insLys) n.948_950dup c.*485_*487dup (n.*485_*487dup) c.*608_*610dup (n.*608_*610dup) c.1153_1155dup (p.Lys385_Phe386insLys) c.310_312dup (p.Lys104_Phe105insLys) n.592_594dup c.1060_1062dup (p.Lys354_Phe355insLys) c.1288_1290dup (p.Lys430_Phe431insLys) c.1195_1197dup (p.Lys399_Phe400insLys) | |
X | g.19359637_19359642dup | CA2695231680 | PDHA1 | c.1178_1183dup (p.Lys394_Ser395insPheLys) c.*849_*854dup (n.*849_*854dup) c.1241_1246dup (p.Lys415_Ser416insPheLys) c.1271_1276dup (p.Lys425_Ser426insPheLys) n.952_957dup c.*489_*494dup (n.*489_*494dup) c.*612_*617dup (n.*612_*617dup) c.1157_1162dup (p.Lys387_Ser388insPheLys) c.314_319dup (p.Lys106_Ser107insPheLys) n.596_601dup c.1064_1069dup (p.Lys356_Ser357insPheLys) c.1292_1297dup (p.Lys432_Ser433insPheLys) c.1199_1204dup (p.Lys401_Ser402insPheLys) | |
X | g.19359637_19359642del | CA2695231681 | PDHA1 | c.1178_1183del (p.Phe393_Lys394del) c.*849_*854del (n.*849_*854del) c.1241_1246del (p.Phe414_Lys415del) c.1271_1276del (p.Phe424_Lys425del) n.952_957del c.*489_*494del (n.*489_*494del) c.*612_*617del (n.*612_*617del) c.1157_1162del (p.Phe386_Lys387del) c.314_319del (p.Phe105_Lys106del) n.596_601del c.1064_1069del (p.Phe355_Lys356del) c.1292_1297del (p.Phe431_Lys432del) c.1199_1204del (p.Phe400_Lys401del) | |
X | g.19359634A= | CA2418225616 | PDHA1 | c.1175A= (p.Lys392=) c.*846A= (n.*846A=) c.1238A= (p.Lys413=) c.1268A= (p.Lys423=) n.949A= c.*486A= (n.*486A=) c.*609A= (n.*609A=) c.1154A= (p.Lys385=) c.311A= (p.Lys104=) n.593A= c.1061A= (p.Lys354=) c.1289A= (p.Lys430=) c.1196A= (p.Lys399=) | |
X | g.19359634A>C | CA412397299 | PDHA1 | c.1175A>C (p.Lys392Thr) c.*846A>C (n.*846A>C) c.1238A>C (p.Lys413Thr) c.1268A>C (p.Lys423Thr) n.949A>C c.*486A>C (n.*486A>C) c.*609A>C (n.*609A>C) c.1154A>C (p.Lys385Thr) c.311A>C (p.Lys104Thr) n.593A>C c.1061A>C (p.Lys354Thr) c.1289A>C (p.Lys430Thr) c.1196A>C (p.Lys399Thr) | dbSNP gnomAD v2 |
X | g.19359634A>G | CA412397302 | PDHA1 | c.1175A>G (p.Lys392Arg) c.*846A>G (n.*846A>G) c.1238A>G (p.Lys413Arg) c.1268A>G (p.Lys423Arg) n.949A>G c.*486A>G (n.*486A>G) c.*609A>G (n.*609A>G) c.1154A>G (p.Lys385Arg) c.311A>G (p.Lys104Arg) n.593A>G c.1061A>G (p.Lys354Arg) c.1289A>G (p.Lys430Arg) c.1196A>G (p.Lys399Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359634A>T | CA412397303 | PDHA1 | c.1175A>T (p.Lys392Met) c.*846A>T (n.*846A>T) c.1238A>T (p.Lys413Met) c.1268A>T (p.Lys423Met) n.949A>T c.*486A>T (n.*486A>T) c.*609A>T (n.*609A>T) c.1154A>T (p.Lys385Met) c.311A>T (p.Lys104Met) n.593A>T c.1061A>T (p.Lys354Met) c.1289A>T (p.Lys430Met) c.1196A>T (p.Lys399Met) | |
X | g.19359635G>A | CA515486487 | PDHA1 | c.1176G>A (p.Lys392=) c.*847G>A (n.*847G>A) c.1239G>A (p.Lys413=) c.1269G>A (p.Lys423=) n.950G>A c.*487G>A (n.*487G>A) c.*610G>A (n.*610G>A) c.1155G>A (p.Lys385=) c.312G>A (p.Lys104=) n.594G>A c.1062G>A (p.Lys354=) c.1290G>A (p.Lys430=) c.1197G>A (p.Lys399=) | |
X | g.19359635G>C | CA412397304 | PDHA1 | c.1176G>C (p.Lys392Asn) c.*847G>C (n.*847G>C) c.1239G>C (p.Lys413Asn) c.1269G>C (p.Lys423Asn) n.950G>C c.*487G>C (n.*487G>C) c.*610G>C (n.*610G>C) c.1155G>C (p.Lys385Asn) c.312G>C (p.Lys104Asn) n.594G>C c.1062G>C (p.Lys354Asn) c.1290G>C (p.Lys430Asn) c.1197G>C (p.Lys399Asn) | |
X | g.19359635G>T | CA412397305 | PDHA1 | c.1176G>T (p.Lys392Asn) c.*847G>T (n.*847G>T) c.1239G>T (p.Lys413Asn) c.1269G>T (p.Lys423Asn) n.950G>T c.*487G>T (n.*487G>T) c.*610G>T (n.*610G>T) c.1155G>T (p.Lys385Asn) c.312G>T (p.Lys104Asn) n.594G>T c.1062G>T (p.Lys354Asn) c.1290G>T (p.Lys430Asn) c.1197G>T (p.Lys399Asn) | |
X | g.19359636T>A | CA412397317 | PDHA1 | c.1177T>A (p.Phe393Ile) c.*848T>A (n.*848T>A) c.1240T>A (p.Phe414Ile) c.1270T>A (p.Phe424Ile) n.951T>A c.*488T>A (n.*488T>A) c.*611T>A (n.*611T>A) c.1156T>A (p.Phe386Ile) c.313T>A (p.Phe105Ile) n.595T>A c.1063T>A (p.Phe355Ile) c.1291T>A (p.Phe431Ile) c.1198T>A (p.Phe400Ile) | |
X | g.19359636T>C | CA412397313 | PDHA1 | c.1177T>C (p.Phe393Leu) c.*848T>C (n.*848T>C) c.1240T>C (p.Phe414Leu) c.1270T>C (p.Phe424Leu) n.951T>C c.*488T>C (n.*488T>C) c.*611T>C (n.*611T>C) c.1156T>C (p.Phe386Leu) c.313T>C (p.Phe105Leu) n.595T>C c.1063T>C (p.Phe355Leu) c.1291T>C (p.Phe431Leu) c.1198T>C (p.Phe400Leu) | |
X | g.19359636T>G | CA412397309 | PDHA1 | c.1177T>G (p.Phe393Val) c.*848T>G (n.*848T>G) c.1240T>G (p.Phe414Val) c.1270T>G (p.Phe424Val) n.951T>G c.*488T>G (n.*488T>G) c.*611T>G (n.*611T>G) c.1156T>G (p.Phe386Val) c.313T>G (p.Phe105Val) n.595T>G c.1063T>G (p.Phe355Val) c.1291T>G (p.Phe431Val) c.1198T>G (p.Phe400Val) | |
X | g.19359636T= | CA2418225617 | PDHA1 | c.1177T= (p.Phe393=) c.*848T= (n.*848T=) c.1240T= (p.Phe414=) c.1270T= (p.Phe424=) n.951T= c.*488T= (n.*488T=) c.*611T= (n.*611T=) c.1156T= (p.Phe386=) c.313T= (p.Phe105=) n.595T= c.1063T= (p.Phe355=) c.1291T= (p.Phe431=) c.1198T= (p.Phe400=) | |
X | g.19359638dup | CA2695231683 | PDHA1 | c.1179dup (p.Lys394Ter) c.*850dup (n.*850dup) c.1242dup (p.Lys415Ter) c.1272dup (p.Lys425Ter) n.953dup c.*490dup (n.*490dup) c.*613dup (n.*613dup) c.1158dup (p.Lys387Ter) c.315dup (p.Lys106Ter) n.597dup c.1065dup (p.Lys356Ter) c.1293dup (p.Lys432Ter) c.1200dup (p.Lys401Ter) | |
X | g.19359637T>A | CA412397324 | PDHA1 | c.1178T>A (p.Phe393Tyr) c.*849T>A (n.*849T>A) c.1241T>A (p.Phe414Tyr) c.1271T>A (p.Phe424Tyr) n.952T>A c.*489T>A (n.*489T>A) c.*612T>A (n.*612T>A) c.1157T>A (p.Phe386Tyr) c.314T>A (p.Phe105Tyr) n.596T>A c.1064T>A (p.Phe355Tyr) c.1292T>A (p.Phe431Tyr) c.1199T>A (p.Phe400Tyr) | |
X | g.19359637T>C | CA412397327 | PDHA1 | c.1178T>C (p.Phe393Ser) c.*849T>C (n.*849T>C) c.1241T>C (p.Phe414Ser) c.1271T>C (p.Phe424Ser) n.952T>C c.*489T>C (n.*489T>C) c.*612T>C (n.*612T>C) c.1157T>C (p.Phe386Ser) c.314T>C (p.Phe105Ser) n.596T>C c.1064T>C (p.Phe355Ser) c.1292T>C (p.Phe431Ser) c.1199T>C (p.Phe400Ser) | |
X | g.19359637T>G | CA412397331 | PDHA1 | c.1178T>G (p.Phe393Cys) c.*849T>G (n.*849T>G) c.1241T>G (p.Phe414Cys) c.1271T>G (p.Phe424Cys) n.952T>G c.*489T>G (n.*489T>G) c.*612T>G (n.*612T>G) c.1157T>G (p.Phe386Cys) c.314T>G (p.Phe105Cys) n.596T>G c.1064T>G (p.Phe355Cys) c.1292T>G (p.Phe431Cys) c.1199T>G (p.Phe400Cys) | |
X | g.19359637T= | CA2418225618 | PDHA1 | c.1178T= (p.Phe393=) c.*849T= (n.*849T=) c.1241T= (p.Phe414=) c.1271T= (p.Phe424=) n.952T= c.*489T= (n.*489T=) c.*612T= (n.*612T=) c.1157T= (p.Phe386=) c.314T= (p.Phe105=) n.596T= c.1064T= (p.Phe355=) c.1292T= (p.Phe431=) c.1199T= (p.Phe400=) | |
X | g.19359637_19359653dup | CA873742943 | PDHA1 | c.1178_1194dup (n.1178_1194dup) c.*849_*865dup (n.*849_*865dup) c.1241_1257dup (n.1241_1257dup) c.1271_1287dup (n.1271_1287dup) n.952_968dup c.*489_*505dup (n.*489_*505dup) c.*612_*628dup (n.*612_*628dup) c.1157_1173dup (n.1157_1173dup) c.314_330dup (n.314_330dup) n.596_612dup c.1064_1080dup (n.1064_1080dup) c.1292_1308dup (n.1292_1308dup) c.1199_1215dup (n.1199_1215dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.19359642_19359654del | CA2499226556 | PDHA1 | c.1183_*1del (n.[c.1183_*1del;Ser395GlyfsTer?]) c.*854_*866del (n.*854_*866del) c.1246_*1del (n.[c.1246_*1del;Ser416GlyfsTer?]) c.1276_*1del (n.[c.1276_*1del;Ser426GlyfsTer?]) n.957_969del c.*494_*506del (n.*494_*506del) c.*617_*629del (n.*617_*629del) c.1162_*1del (n.[c.1162_*1del;Ser388GlyfsTer?]) c.319_*1del (n.[c.319_*1del;Ser107GlyfsTer?]) n.601_613del c.1069_*1del (n.[c.1069_*1del;Ser357GlyfsTer?]) c.1297_*1del (n.[c.1297_*1del;Ser433GlyfsTer?]) c.1204_*1del (n.[c.1204_*1del;Ser402GlyfsTer?]) | ClinVar dbSNP |
X | g.19359637_19359681dup | CA2739268103 | PDHA1 | c.1178_*28dup (n.1178_*28dup) c.*849_*893dup (n.*849_*893dup) c.1241_*28dup (n.1241_*28dup) c.1271_*28dup (n.1271_*28dup) n.952_996dup c.*489_*533dup (n.*489_*533dup) c.*612_*656dup (n.*612_*656dup) c.1157_*28dup (n.1157_*28dup) c.314_*28dup (n.314_*28dup) n.596_640dup c.1064_*28dup (n.1064_*28dup) c.1292_*28dup (n.1292_*28dup) c.1199_*28dup (n.1199_*28dup) | ClinVar |
X | g.19359638T>A | CA412397339 | PDHA1 | c.1179T>A (p.Phe393Leu) c.*850T>A (n.*850T>A) c.1242T>A (p.Phe414Leu) c.1272T>A (p.Phe424Leu) n.953T>A c.*490T>A (n.*490T>A) c.*613T>A (n.*613T>A) c.1158T>A (p.Phe386Leu) c.315T>A (p.Phe105Leu) n.597T>A c.1065T>A (p.Phe355Leu) c.1293T>A (p.Phe431Leu) c.1200T>A (p.Phe400Leu) | |
X | g.19359638T>C | CA515486488 | PDHA1 | c.1179T>C (p.Phe393=) c.*850T>C (n.*850T>C) c.1242T>C (p.Phe414=) c.1272T>C (p.Phe424=) n.953T>C c.*490T>C (n.*490T>C) c.*613T>C (n.*613T>C) c.1158T>C (p.Phe386=) c.315T>C (p.Phe105=) n.597T>C c.1065T>C (p.Phe355=) c.1293T>C (p.Phe431=) c.1200T>C (p.Phe400=) | |
X | g.19359638T>G | CA412397342 | PDHA1 | c.1179T>G (p.Phe393Leu) c.*850T>G (n.*850T>G) c.1242T>G (p.Phe414Leu) c.1272T>G (p.Phe424Leu) n.953T>G c.*490T>G (n.*490T>G) c.*613T>G (n.*613T>G) c.1158T>G (p.Phe386Leu) c.315T>G (p.Phe105Leu) n.597T>G c.1065T>G (p.Phe355Leu) c.1293T>G (p.Phe431Leu) c.1200T>G (p.Phe400Leu) | |
X | g.19359638T= | CA2418225620 | PDHA1 | c.1179T= (p.Phe393=) c.*850T= (n.*850T=) c.1242T= (p.Phe414=) c.1272T= (p.Phe424=) n.953T= c.*490T= (n.*490T=) c.*613T= (n.*613T=) c.1158T= (p.Phe386=) c.315T= (p.Phe105=) n.597T= c.1065T= (p.Phe355=) c.1293T= (p.Phe431=) c.1200T= (p.Phe400=) | |
X | g.19359638_19359640delinsTAA | CA2418225619 | PDHA1 | c.1179_1181delinsTAA (p.Phe393=) c.*850_*852delinsTAA (n.*850_*852delinsTAA) c.1242_1244delinsTAA (p.Phe414=) c.1272_1274delinsTAA (p.Phe424=) n.953_955delinsTAA c.*490_*492delinsTAA (n.*490_*492delinsTAA) c.*613_*615delinsTAA (n.*613_*615delinsTAA) c.1158_1160delinsTAA (p.Phe386=) c.315_317delinsTAA (p.Phe105=) n.597_599delinsTAA c.1065_1067delinsTAA (p.Phe355=) c.1293_1295delinsTAA (p.Phe431=) c.1200_1202delinsTAA (p.Phe400=) | |
X | g.19359639_19359642dup | CA319929 | PDHA1 | c.1180_1183dup (p.Ser395Ter) c.*851_*854dup (n.*851_*854dup) c.1243_1246dup (p.Ser416Ter) c.1273_1276dup (p.Ser426Ter) n.954_957dup c.*491_*494dup (n.*491_*494dup) c.*614_*617dup (n.*614_*617dup) c.1159_1162dup (p.Ser388Ter) c.316_319dup (p.Ser107Ter) n.598_601dup c.1066_1069dup (p.Ser357Ter) c.1294_1297dup (p.Ser433Ter) c.1201_1204dup (p.Ser402Ter) | ClinVar dbSNP |
X | g.19359638_19359639insCAGTGGATCAAGTTTA | CA2580100442 | PDHA1 | c.1179_1180insCAGTGGATCAAGTTTA (p.Lys394GlnfsTer?) c.*850_*851insCAGTGGATCAAGTTTA (n.*850_*851insCAGTGGATCAAGTTTA) c.1242_1243insCAGTGGATCAAGTTTA (p.Lys415GlnfsTer?) c.1272_1273insCAGTGGATCAAGTTTA (p.Lys425GlnfsTer?) n.953_954insCAGTGGATCAAGTTTA c.*490_*491insCAGTGGATCAAGTTTA (n.*490_*491insCAGTGGATCAAGTTTA) c.*613_*614insCAGTGGATCAAGTTTA (n.*613_*614insCAGTGGATCAAGTTTA) c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387GlnfsTer?) c.315_316insCAGTGGATCAAGTTTA (p.Lys106GlnfsTer?) n.597_598insCAGTGGATCAAGTTTA c.1065_1066insCAGTGGATCAAGTTTA (p.Lys356GlnfsTer?) c.1293_1294insCAGTGGATCAAGTTTA (p.Lys432GlnfsTer?) c.1200_1201insCAGTGGATCAAGTTTA (p.Lys401GlnfsTer?) | ClinVar |
X | g.19359639A= | CA2418225622 | PDHA1 | c.1180A= (p.Lys394=) c.*851A= (n.*851A=) c.1243A= (p.Lys415=) c.1273A= (p.Lys425=) n.954A= c.*491A= (n.*491A=) c.*614A= (n.*614A=) c.1159A= (p.Lys387=) c.316A= (p.Lys106=) n.598A= c.1066A= (p.Lys356=) c.1294A= (p.Lys432=) c.1201A= (p.Lys401=) | |
X | g.19359639A>C | CA325044 | PDHA1 | c.1180A>C (p.Lys394Gln) c.*851A>C (n.*851A>C) c.1243A>C (p.Lys415Gln) c.1273A>C (p.Lys425Gln) n.954A>C c.*491A>C (n.*491A>C) c.*614A>C (n.*614A>C) c.1159A>C (p.Lys387Gln) c.316A>C (p.Lys106Gln) n.598A>C c.1066A>C (p.Lys356Gln) c.1294A>C (p.Lys432Gln) c.1201A>C (p.Lys401Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359639A>G | CA412397373 | PDHA1 | c.1180A>G (p.Lys394Glu) c.*851A>G (n.*851A>G) c.1243A>G (p.Lys415Glu) c.1273A>G (p.Lys425Glu) n.954A>G c.*491A>G (n.*491A>G) c.*614A>G (n.*614A>G) c.1159A>G (p.Lys387Glu) c.316A>G (p.Lys106Glu) n.598A>G c.1066A>G (p.Lys356Glu) c.1294A>G (p.Lys432Glu) c.1201A>G (p.Lys401Glu) | |
X | g.19359639A>T | CA412397353 | PDHA1 | c.1180A>T (p.Lys394Ter) c.*851A>T (n.*851A>T) c.1243A>T (p.Lys415Ter) c.1273A>T (p.Lys425Ter) n.954A>T c.*491A>T (n.*491A>T) c.*614A>T (n.*614A>T) c.1159A>T (p.Lys387Ter) c.316A>T (p.Lys106Ter) n.598A>T c.1066A>T (p.Lys356Ter) c.1294A>T (p.Lys432Ter) c.1201A>T (p.Lys401Ter) | |
X | g.19359639_19359640del | CA121209 | PDHA1 | c.1180_1181del (p.Lys394ValfsTer?) c.*851_*852del (n.*851_*852del) c.1243_1244del (p.Lys415ValfsTer?) c.1273_1274del (p.Lys425ValfsTer?) n.954_955del c.*491_*492del (n.*491_*492del) c.*614_*615del (n.*614_*615del) c.1159_1160del (p.Lys387ValfsTer?) c.316_317del (p.Lys106ValfsTer?) n.598_599del c.1066_1067del (p.Lys356ValfsTer?) c.1294_1295del (p.Lys432ValfsTer?) c.1201_1202del (p.Lys401ValfsTer?) | ClinVar dbSNP |
X | g.19359639_19359643delinsAAGTC | CA2418225623 | PDHA1 | c.1180_1184delinsAAGTC (p.Lys394=) c.*851_*855delinsAAGTC (n.*851_*855delinsAAGTC) c.1243_1247delinsAAGTC (p.Lys415=) c.1273_1277delinsAAGTC (p.Lys425=) n.954_958delinsAAGTC c.*491_*495delinsAAGTC (n.*491_*495delinsAAGTC) c.*614_*618delinsAAGTC (n.*614_*618delinsAAGTC) c.1159_1163delinsAAGTC (p.Lys387=) c.316_320delinsAAGTC (p.Lys106=) n.598_602delinsAAGTC c.1066_1070delinsAAGTC (p.Lys356=) c.1294_1298delinsAAGTC (p.Lys432=) c.1201_1205delinsAAGTC (p.Lys401=) | |
X | g.19359639_19359644dup | CA2418225621 | PDHA1 | c.1180_1185dup (p.Ser395_Val396insLysSer) c.*851_*856dup (n.*851_*856dup) c.1243_1248dup (p.Ser416_Val417insLysSer) c.1273_1278dup (p.Ser426_Val427insLysSer) n.954_959dup c.*491_*496dup (n.*491_*496dup) c.*614_*619dup (n.*614_*619dup) c.1159_1164dup (p.Ser388_Val389insLysSer) c.316_321dup (p.Ser107_Val108insLysSer) n.598_603dup c.1066_1071dup (p.Ser357_Val358insLysSer) c.1294_1299dup (p.Ser433_Val434insLysSer) c.1201_1206dup (p.Ser402_Val403insLysSer) | ClinVar dbSNP |
X | g.19359640_19359658dup | CA2693251342 | PDHA1 | c.1181_*5dup (n.1181_*5dup) c.*852_*870dup (n.*852_*870dup) c.1244_*5dup (n.1244_*5dup) c.1274_*5dup (n.1274_*5dup) n.955_973dup c.*492_*510dup (n.*492_*510dup) c.*615_*633dup (n.*615_*633dup) c.1160_*5dup (n.1160_*5dup) c.317_*5dup (n.317_*5dup) n.599_617dup c.1067_*5dup (n.1067_*5dup) c.1295_*5dup (n.1295_*5dup) c.1202_*5dup (n.1202_*5dup) | gnomAD v4 |
X | g.19359640A>C | CA412397407 | PDHA1 | c.1181A>C (p.Lys394Thr) c.*852A>C (n.*852A>C) c.1244A>C (p.Lys415Thr) c.1274A>C (p.Lys425Thr) n.955A>C c.*492A>C (n.*492A>C) c.*615A>C (n.*615A>C) c.1160A>C (p.Lys387Thr) c.317A>C (p.Lys106Thr) n.599A>C c.1067A>C (p.Lys356Thr) c.1295A>C (p.Lys432Thr) c.1202A>C (p.Lys401Thr) | |
X | g.19359640A>G | CA412397411 | PDHA1 | c.1181A>G (p.Lys394Arg) c.*852A>G (n.*852A>G) c.1244A>G (p.Lys415Arg) c.1274A>G (p.Lys425Arg) n.955A>G c.*492A>G (n.*492A>G) c.*615A>G (n.*615A>G) c.1160A>G (p.Lys387Arg) c.317A>G (p.Lys106Arg) n.599A>G c.1067A>G (p.Lys356Arg) c.1295A>G (p.Lys432Arg) c.1202A>G (p.Lys401Arg) | |
X | g.19359640A>T | CA412397416 | PDHA1 | c.1181A>T (p.Lys394Met) c.*852A>T (n.*852A>T) c.1244A>T (p.Lys415Met) c.1274A>T (p.Lys425Met) n.955A>T c.*492A>T (n.*492A>T) c.*615A>T (n.*615A>T) c.1160A>T (p.Lys387Met) c.317A>T (p.Lys106Met) n.599A>T c.1067A>T (p.Lys356Met) c.1295A>T (p.Lys432Met) c.1202A>T (p.Lys401Met) | |
X | g.19359647_19359650del | CA121203 | PDHA1 | c.1188_1191del (p.Ser397LysfsTer?) c.*859_*862del (n.*859_*862del) c.1251_1254del (p.Ser418LysfsTer?) c.1281_1284del (p.Ser428LysfsTer?) n.962_965del c.*499_*502del (n.*499_*502del) c.*622_*625del (n.*622_*625del) c.1167_1170del (p.Ser390LysfsTer?) c.324_327del (p.Ser109LysfsTer?) n.606_609del c.1074_1077del (p.Ser359LysfsTer?) c.1302_1305del (p.Ser435LysfsTer?) c.1209_1212del (p.Ser404LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359641G>A | CA515486489 | PDHA1 | c.1182G>A (p.Lys394=) c.*853G>A (n.*853G>A) c.1245G>A (p.Lys415=) c.1275G>A (p.Lys425=) n.956G>A c.*493G>A (n.*493G>A) c.*616G>A (n.*616G>A) c.1161G>A (p.Lys387=) c.318G>A (p.Lys106=) n.600G>A c.1068G>A (p.Lys356=) c.1296G>A (p.Lys432=) c.1203G>A (p.Lys401=) | |
X | g.19359641G>C | CA412397428 | PDHA1 | c.1182G>C (p.Lys394Asn) c.*853G>C (n.*853G>C) c.1245G>C (p.Lys415Asn) c.1275G>C (p.Lys425Asn) n.956G>C c.*493G>C (n.*493G>C) c.*616G>C (n.*616G>C) c.1161G>C (p.Lys387Asn) c.318G>C (p.Lys106Asn) n.600G>C c.1068G>C (p.Lys356Asn) c.1296G>C (p.Lys432Asn) c.1203G>C (p.Lys401Asn) | |
X | g.19359641G>T | CA412397433 | PDHA1 | c.1182G>T (p.Lys394Asn) c.*853G>T (n.*853G>T) c.1245G>T (p.Lys415Asn) c.1275G>T (p.Lys425Asn) n.956G>T c.*493G>T (n.*493G>T) c.*616G>T (n.*616G>T) c.1161G>T (p.Lys387Asn) c.318G>T (p.Lys106Asn) n.600G>T c.1068G>T (p.Lys356Asn) c.1296G>T (p.Lys432Asn) c.1203G>T (p.Lys401Asn) | |
X | g.19359642T>A | CA412397437 | PDHA1 | c.1183T>A (p.Ser395Thr) c.*854T>A (n.*854T>A) c.1246T>A (p.Ser416Thr) c.1276T>A (p.Ser426Thr) n.957T>A c.*494T>A (n.*494T>A) c.*617T>A (n.*617T>A) c.1162T>A (p.Ser388Thr) c.319T>A (p.Ser107Thr) n.601T>A c.1069T>A (p.Ser357Thr) c.1297T>A (p.Ser433Thr) c.1204T>A (p.Ser402Thr) | |
X | g.19359642T>C | CA412397439 | PDHA1 | c.1183T>C (p.Ser395Pro) c.*854T>C (n.*854T>C) c.1246T>C (p.Ser416Pro) c.1276T>C (p.Ser426Pro) n.957T>C c.*494T>C (n.*494T>C) c.*617T>C (n.*617T>C) c.1162T>C (p.Ser388Pro) c.319T>C (p.Ser107Pro) n.601T>C c.1069T>C (p.Ser357Pro) c.1297T>C (p.Ser433Pro) c.1204T>C (p.Ser402Pro) | |
X | g.19359642T>G | CA412397442 | PDHA1 | c.1183T>G (p.Ser395Ala) c.*854T>G (n.*854T>G) c.1246T>G (p.Ser416Ala) c.1276T>G (p.Ser426Ala) n.957T>G c.*494T>G (n.*494T>G) c.*617T>G (n.*617T>G) c.1162T>G (p.Ser388Ala) c.319T>G (p.Ser107Ala) n.601T>G c.1069T>G (p.Ser357Ala) c.1297T>G (p.Ser433Ala) c.1204T>G (p.Ser402Ala) | |
X | g.19359643C>A | CA412397449 | PDHA1 | c.1184C>A (p.Ser395Ter) c.*855C>A (n.*855C>A) c.1247C>A (p.Ser416Ter) c.1277C>A (p.Ser426Ter) n.958C>A c.*495C>A (n.*495C>A) c.*618C>A (n.*618C>A) c.1163C>A (p.Ser388Ter) c.320C>A (p.Ser107Ter) n.602C>A c.1070C>A (p.Ser357Ter) c.1298C>A (p.Ser433Ter) c.1205C>A (p.Ser402Ter) | |
X | g.19359643C>G | CA412397453 | PDHA1 | c.1184C>G (p.Ser395Ter) c.*855C>G (n.*855C>G) c.1247C>G (p.Ser416Ter) c.1277C>G (p.Ser426Ter) n.958C>G c.*495C>G (n.*495C>G) c.*618C>G (n.*618C>G) c.1163C>G (p.Ser388Ter) c.320C>G (p.Ser107Ter) n.602C>G c.1070C>G (p.Ser357Ter) c.1298C>G (p.Ser433Ter) c.1205C>G (p.Ser402Ter) | |
X | g.19359643C>T | CA412397457 | PDHA1 | c.1184C>T (p.Ser395Leu) c.*855C>T (n.*855C>T) c.1247C>T (p.Ser416Leu) c.1277C>T (p.Ser426Leu) n.958C>T c.*495C>T (n.*495C>T) c.*618C>T (n.*618C>T) c.1163C>T (p.Ser388Leu) c.320C>T (p.Ser107Leu) n.602C>T c.1070C>T (p.Ser357Leu) c.1298C>T (p.Ser433Leu) c.1205C>T (p.Ser402Leu) | |
X | g.19359643_19359652delinsCAGTCAGTTA | CA2418225624 | PDHA1 | c.1184_1193delinsCAGTCAGTTA (p.Ser395=) c.*855_*864delinsCAGTCAGTTA (n.*855_*864delinsCAGTCAGTTA) c.1247_1256delinsCAGTCAGTTA (p.Ser416=) c.1277_1286delinsCAGTCAGTTA (p.Ser426=) n.958_967delinsCAGTCAGTTA c.*495_*504delinsCAGTCAGTTA (n.*495_*504delinsCAGTCAGTTA) c.*618_*627delinsCAGTCAGTTA (n.*618_*627delinsCAGTCAGTTA) c.1163_1172delinsCAGTCAGTTA (p.Ser388=) c.320_329delinsCAGTCAGTTA (p.Ser107=) n.602_611delinsCAGTCAGTTA c.1070_1079delinsCAGTCAGTTA (p.Ser357=) c.1298_1307delinsCAGTCAGTTA (p.Ser433=) c.1205_1214delinsCAGTCAGTTA (p.Ser402=) | |
X | g.19359644A= | CA2418225625 | PDHA1 | c.1185A= (p.Ser395=) c.*856A= (n.*856A=) c.1248A= (p.Ser416=) c.1278A= (p.Ser426=) n.959A= c.*496A= (n.*496A=) c.*619A= (n.*619A=) c.1164A= (p.Ser388=) c.321A= (p.Ser107=) n.603A= c.1071A= (p.Ser357=) c.1299A= (p.Ser433=) c.1206A= (p.Ser402=) | |
X | g.19359644A>C | CA515486490 | PDHA1 | c.1185A>C (p.Ser395=) c.*856A>C (n.*856A>C) c.1248A>C (p.Ser416=) c.1278A>C (p.Ser426=) n.959A>C c.*496A>C (n.*496A>C) c.*619A>C (n.*619A>C) c.1164A>C (p.Ser388=) c.321A>C (p.Ser107=) n.603A>C c.1071A>C (p.Ser357=) c.1299A>C (p.Ser433=) c.1206A>C (p.Ser402=) | dbSNP |
X | g.19359644A>G | CA515486491 | PDHA1 | c.1185A>G (p.Ser395=) c.*856A>G (n.*856A>G) c.1248A>G (p.Ser416=) c.1278A>G (p.Ser426=) n.959A>G c.*496A>G (n.*496A>G) c.*619A>G (n.*619A>G) c.1164A>G (p.Ser388=) c.321A>G (p.Ser107=) n.603A>G c.1071A>G (p.Ser357=) c.1299A>G (p.Ser433=) c.1206A>G (p.Ser402=) | |
X | g.19359644A>T | CA515486492 | PDHA1 | c.1185A>T (p.Ser395=) c.*856A>T (n.*856A>T) c.1248A>T (p.Ser416=) c.1278A>T (p.Ser426=) n.959A>T c.*496A>T (n.*496A>T) c.*619A>T (n.*619A>T) c.1164A>T (p.Ser388=) c.321A>T (p.Ser107=) n.603A>T c.1071A>T (p.Ser357=) c.1299A>T (p.Ser433=) c.1206A>T (p.Ser402=) | |
X | g.19359646_19359654del | CA640857098 | PDHA1 | c.1187_*1del (n.[c.1187_*1del;Val396GlyfsTer21]) c.*858_*866del (n.*858_*866del) c.1250_*1del (n.[c.1250_*1del;Val417GlyfsTer21]) c.1280_*1del (n.[c.1280_*1del;Val427GlyfsTer21]) n.961_969del c.*498_*506del (n.*498_*506del) c.*621_*629del (n.*621_*629del) c.1166_*1del (n.[c.1166_*1del;Val389GlyfsTer21]) c.323_*1del (n.[c.323_*1del;Val108GlyfsTer21]) n.605_613del c.1073_*1del (n.[c.1073_*1del;Val358GlyfsTer21]) c.1301_*1del (n.[c.1301_*1del;Val434GlyfsTer21]) c.1208_*1del (n.[c.1208_*1del;Val403GlyfsTer21]) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359645G>A | CA412397462 | PDHA1 | c.1186G>A (p.Val396Ile) c.*857G>A (n.*857G>A) c.1249G>A (p.Val417Ile) c.1279G>A (p.Val427Ile) n.960G>A c.*497G>A (n.*497G>A) c.*620G>A (n.*620G>A) c.1165G>A (p.Val389Ile) c.322G>A (p.Val108Ile) n.604G>A c.1072G>A (p.Val358Ile) c.1300G>A (p.Val434Ile) c.1207G>A (p.Val403Ile) | |
X | g.19359645G>C | CA10363222 | PDHA1 | c.1186G>C (p.Val396Leu) c.*857G>C (n.*857G>C) c.1249G>C (p.Val417Leu) c.1279G>C (p.Val427Leu) n.960G>C c.*497G>C (n.*497G>C) c.*620G>C (n.*620G>C) c.1165G>C (p.Val389Leu) c.322G>C (p.Val108Leu) n.604G>C c.1072G>C (p.Val358Leu) c.1300G>C (p.Val434Leu) c.1207G>C (p.Val403Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359645G= | CA2418225626 | PDHA1 | c.1186G= (p.Val396=) c.*857G= (n.*857G=) c.1249G= (p.Val417=) c.1279G= (p.Val427=) n.960G= c.*497G= (n.*497G=) c.*620G= (n.*620G=) c.1165G= (p.Val389=) c.322G= (p.Val108=) n.604G= c.1072G= (p.Val358=) c.1300G= (p.Val434=) c.1207G= (p.Val403=) | |
X | g.19359645G>T | CA412397468 | PDHA1 | c.1186G>T (p.Val396Phe) c.*857G>T (n.*857G>T) c.1249G>T (p.Val417Phe) c.1279G>T (p.Val427Phe) n.960G>T c.*497G>T (n.*497G>T) c.*620G>T (n.*620G>T) c.1165G>T (p.Val389Phe) c.322G>T (p.Val108Phe) n.604G>T c.1072G>T (p.Val358Phe) c.1300G>T (p.Val434Phe) c.1207G>T (p.Val403Phe) | |
X | g.19359645_19359647dup | CA2579566473 | PDHA1 | c.1186_1188dup (p.Val396_Ser397insVal) c.*857_*859dup (n.*857_*859dup) c.1249_1251dup (p.Val417_Ser418insVal) c.1279_1281dup (p.Val427_Ser428insVal) n.960_962dup c.*497_*499dup (n.*497_*499dup) c.*620_*622dup (n.*620_*622dup) c.1165_1167dup (p.Val389_Ser390insVal) c.322_324dup (p.Val108_Ser109insVal) n.604_606dup c.1072_1074dup (p.Val358_Ser359insVal) c.1300_1302dup (p.Val434_Ser435insVal) c.1207_1209dup (p.Val403_Ser404insVal) | |
X | g.19359646T>A | CA412397474 | PDHA1 | c.1187T>A (p.Val396Asp) c.*858T>A (n.*858T>A) c.1250T>A (p.Val417Asp) c.1280T>A (p.Val427Asp) n.961T>A c.*498T>A (n.*498T>A) c.*621T>A (n.*621T>A) c.1166T>A (p.Val389Asp) c.323T>A (p.Val108Asp) n.605T>A c.1073T>A (p.Val358Asp) c.1301T>A (p.Val434Asp) c.1208T>A (p.Val403Asp) | |
X | g.19359646T>C | CA412397477 | PDHA1 | c.1187T>C (p.Val396Ala) c.*858T>C (n.*858T>C) c.1250T>C (p.Val417Ala) c.1280T>C (p.Val427Ala) n.961T>C c.*498T>C (n.*498T>C) c.*621T>C (n.*621T>C) c.1166T>C (p.Val389Ala) c.323T>C (p.Val108Ala) n.605T>C c.1073T>C (p.Val358Ala) c.1301T>C (p.Val434Ala) c.1208T>C (p.Val403Ala) | ClinVar |
X | g.19359646T>G | CA412397480 | PDHA1 | c.1187T>G (p.Val396Gly) c.*858T>G (n.*858T>G) c.1250T>G (p.Val417Gly) c.1280T>G (p.Val427Gly) n.961T>G c.*498T>G (n.*498T>G) c.*621T>G (n.*621T>G) c.1166T>G (p.Val389Gly) c.323T>G (p.Val108Gly) n.605T>G c.1073T>G (p.Val358Gly) c.1301T>G (p.Val434Gly) c.1208T>G (p.Val403Gly) | |
X | g.19359647C>A | CA515486493 | PDHA1 | c.1188C>A (p.Val396=) c.*859C>A (n.*859C>A) c.1251C>A (p.Val417=) c.1281C>A (p.Val427=) n.962C>A c.*499C>A (n.*499C>A) c.*622C>A (n.*622C>A) c.1167C>A (p.Val389=) c.324C>A (p.Val108=) n.606C>A c.1074C>A (p.Val358=) c.1302C>A (p.Val434=) c.1209C>A (p.Val403=) | |
X | g.19359647C>G | CA515486494 | PDHA1 | c.1188C>G (p.Val396=) c.*859C>G (n.*859C>G) c.1251C>G (p.Val417=) c.1281C>G (p.Val427=) n.962C>G c.*499C>G (n.*499C>G) c.*622C>G (n.*622C>G) c.1167C>G (p.Val389=) c.324C>G (p.Val108=) n.606C>G c.1074C>G (p.Val358=) c.1302C>G (p.Val434=) c.1209C>G (p.Val403=) | |
X | g.19359647C>T | CA515486495 | PDHA1 | c.1188C>T (p.Val396=) c.*859C>T (n.*859C>T) c.1251C>T (p.Val417=) c.1281C>T (p.Val427=) n.962C>T c.*499C>T (n.*499C>T) c.*622C>T (n.*622C>T) c.1167C>T (p.Val389=) c.324C>T (p.Val108=) n.606C>T c.1074C>T (p.Val358=) c.1302C>T (p.Val434=) c.1209C>T (p.Val403=) | gnomAD v4 |
X | g.19359648A>C | CA412397486 | PDHA1 | c.1189A>C (p.Ser397Arg) c.*860A>C (n.*860A>C) c.1252A>C (p.Ser418Arg) c.1282A>C (p.Ser428Arg) n.963A>C c.*500A>C (n.*500A>C) c.*623A>C (n.*623A>C) c.1168A>C (p.Ser390Arg) c.325A>C (p.Ser109Arg) n.607A>C c.1075A>C (p.Ser359Arg) c.1303A>C (p.Ser435Arg) c.1210A>C (p.Ser404Arg) | |
X | g.19359648A>G | CA412397489 | PDHA1 | c.1189A>G (p.Ser397Gly) c.*860A>G (n.*860A>G) c.1252A>G (p.Ser418Gly) c.1282A>G (p.Ser428Gly) n.963A>G c.*500A>G (n.*500A>G) c.*623A>G (n.*623A>G) c.1168A>G (p.Ser390Gly) c.325A>G (p.Ser109Gly) n.607A>G c.1075A>G (p.Ser359Gly) c.1303A>G (p.Ser435Gly) c.1210A>G (p.Ser404Gly) | |
X | g.19359648A>T | CA412397493 | PDHA1 | c.1189A>T (p.Ser397Cys) c.*860A>T (n.*860A>T) c.1252A>T (p.Ser418Cys) c.1282A>T (p.Ser428Cys) n.963A>T c.*500A>T (n.*500A>T) c.*623A>T (n.*623A>T) c.1168A>T (p.Ser390Cys) c.325A>T (p.Ser109Cys) n.607A>T c.1075A>T (p.Ser359Cys) c.1303A>T (p.Ser435Cys) c.1210A>T (p.Ser404Cys) | |
X | g.19359649_19359652dup | CA2739268104 | PDHA1 | c.1190_1193dup (p.Ter398=) c.*861_*864dup (n.*861_*864dup) c.1253_1256dup (p.Ter419=) c.1283_1286dup (p.Ter429=) n.964_967dup c.*501_*504dup (n.*501_*504dup) c.*624_*627dup (n.*624_*627dup) c.1169_1172dup (p.Ter391=) c.326_329dup (p.Ter110=) n.608_611dup c.1076_1079dup (p.Ter360=) c.1304_1307dup (p.Ter436=) c.1211_1214dup (p.Ter405=) | ClinVar |
X | g.19359649G>A | CA412397504 | PDHA1 | c.1190G>A (p.Ser397Asn) c.*861G>A (n.*861G>A) c.1253G>A (p.Ser418Asn) c.1283G>A (p.Ser428Asn) n.964G>A c.*501G>A (n.*501G>A) c.*624G>A (n.*624G>A) c.1169G>A (p.Ser390Asn) c.326G>A (p.Ser109Asn) n.608G>A c.1076G>A (p.Ser359Asn) c.1304G>A (p.Ser435Asn) c.1211G>A (p.Ser404Asn) | gnomAD v4 |
X | g.19359649G>C | CA412397511 | PDHA1 | c.1190G>C (p.Ser397Thr) c.*861G>C (n.*861G>C) c.1253G>C (p.Ser418Thr) c.1283G>C (p.Ser428Thr) n.964G>C c.*501G>C (n.*501G>C) c.*624G>C (n.*624G>C) c.1169G>C (p.Ser390Thr) c.326G>C (p.Ser109Thr) n.608G>C c.1076G>C (p.Ser359Thr) c.1304G>C (p.Ser435Thr) c.1211G>C (p.Ser404Thr) | gnomAD v4 |
X | g.19359649G>T | CA412397514 | PDHA1 | c.1190G>T (p.Ser397Ile) c.*861G>T (n.*861G>T) c.1253G>T (p.Ser418Ile) c.1283G>T (p.Ser428Ile) n.964G>T c.*501G>T (n.*501G>T) c.*624G>T (n.*624G>T) c.1169G>T (p.Ser390Ile) c.326G>T (p.Ser109Ile) n.608G>T c.1076G>T (p.Ser359Ile) c.1304G>T (p.Ser435Ile) c.1211G>T (p.Ser404Ile) | |
X | g.19359650T>A | CA412397519 | PDHA1 | c.1191T>A (p.Ser397Arg) c.*862T>A (n.*862T>A) c.1254T>A (p.Ser418Arg) c.1284T>A (p.Ser428Arg) n.965T>A c.*502T>A (n.*502T>A) c.*625T>A (n.*625T>A) c.1170T>A (p.Ser390Arg) c.327T>A (p.Ser109Arg) n.609T>A c.1077T>A (p.Ser359Arg) c.1305T>A (p.Ser435Arg) c.1212T>A (p.Ser404Arg) | |
X | g.19359650T>C | CA10363223 | PDHA1 | c.1191T>C (p.Ser397=) c.*862T>C (n.*862T>C) c.1254T>C (p.Ser418=) c.1284T>C (p.Ser428=) n.965T>C c.*502T>C (n.*502T>C) c.*625T>C (n.*625T>C) c.1170T>C (p.Ser390=) c.327T>C (p.Ser109=) n.609T>C c.1077T>C (p.Ser359=) c.1305T>C (p.Ser435=) c.1212T>C (p.Ser404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359650T>G | CA412397523 | PDHA1 | c.1191T>G (p.Ser397Arg) c.*862T>G (n.*862T>G) c.1254T>G (p.Ser418Arg) c.1284T>G (p.Ser428Arg) n.965T>G c.*502T>G (n.*502T>G) c.*625T>G (n.*625T>G) c.1170T>G (p.Ser390Arg) c.327T>G (p.Ser109Arg) n.609T>G c.1077T>G (p.Ser359Arg) c.1305T>G (p.Ser435Arg) c.1212T>G (p.Ser404Arg) | |
X | g.19359650T= | CA2418225627 | PDHA1 | c.1191T= (p.Ser397=) c.*862T= (n.*862T=) c.1254T= (p.Ser418=) c.1284T= (p.Ser428=) n.965T= c.*502T= (n.*502T=) c.*625T= (n.*625T=) c.1170T= (p.Ser390=) c.327T= (p.Ser109=) n.609T= c.1077T= (p.Ser359=) c.1305T= (p.Ser435=) c.1212T= (p.Ser404=) | |
X | g.19359650_19359651dup | CA2695200156 | PDHA1 | c.1191_1192dup (p.Ter398PheextTer?) c.*862_*863dup (n.*862_*863dup) c.1254_1255dup (p.Ter419PheextTer?) c.1284_1285dup (p.Ter429PheextTer?) n.965_966dup c.*502_*503dup (n.*502_*503dup) c.*625_*626dup (n.*625_*626dup) c.1170_1171dup (p.Ter391PheextTer?) c.327_328dup (p.Ter110PheextTer?) n.609_610dup c.1077_1078dup (p.Ter360PheextTer?) c.1305_1306dup (p.Ter436PheextTer?) c.1212_1213dup (p.Ter405PheextTer?) | ClinVar |
X | g.19359651T>A | CA412397527 | PDHA1 | c.1192T>A (p.Ter398Lys) c.*863T>A (n.*863T>A) c.1255T>A (p.Ter419Lys) c.1285T>A (p.Ter429Lys) n.966T>A c.*503T>A (n.*503T>A) c.*626T>A (n.*626T>A) c.1171T>A (p.Ter391Lys) c.328T>A (p.Ter110Lys) n.610T>A c.1078T>A (p.Ter360Lys) c.1306T>A (p.Ter436Lys) c.1213T>A (p.Ter405Lys) | |
X | g.19359651T>C | CA412397524 | PDHA1 | c.1192T>C (p.Ter398Gln) c.*863T>C (n.*863T>C) c.1255T>C (p.Ter419Gln) c.1285T>C (p.Ter429Gln) n.966T>C c.*503T>C (n.*503T>C) c.*626T>C (n.*626T>C) c.1171T>C (p.Ter391Gln) c.328T>C (p.Ter110Gln) n.610T>C c.1078T>C (p.Ter360Gln) c.1306T>C (p.Ter436Gln) c.1213T>C (p.Ter405Gln) | |
X | g.19359651T>G | CA412397525 | PDHA1 | c.1192T>G (p.Ter398Glu) c.*863T>G (n.*863T>G) c.1255T>G (p.Ter419Glu) c.1285T>G (p.Ter429Glu) n.966T>G c.*503T>G (n.*503T>G) c.*626T>G (n.*626T>G) c.1171T>G (p.Ter391Glu) c.328T>G (p.Ter110Glu) n.610T>G c.1078T>G (p.Ter360Glu) c.1306T>G (p.Ter436Glu) c.1213T>G (p.Ter405Glu) | |
X | g.19359651_19359656delinsTAAGGG | CA2418225630 | PDHA1 | c.1192_*3delinsTAAGGG (n.[c.1192_*3delinsTAAGGG;Ter398=]) c.*863_*868delinsTAAGGG (n.*863_*868delinsTAAGGG) c.1255_*3delinsTAAGGG (n.[c.1255_*3delinsTAAGGG;Ter419=]) c.1285_*3delinsTAAGGG (n.[c.1285_*3delinsTAAGGG;Ter429=]) n.966_971delinsTAAGGG c.*503_*508delinsTAAGGG (n.*503_*508delinsTAAGGG) c.*626_*631delinsTAAGGG (n.*626_*631delinsTAAGGG) c.1171_*3delinsTAAGGG (n.[c.1171_*3delinsTAAGGG;Ter391=]) c.328_*3delinsTAAGGG (n.[c.328_*3delinsTAAGGG;Ter110=]) n.610_615delinsTAAGGG c.1078_*3delinsTAAGGG (n.[c.1078_*3delinsTAAGGG;Ter360=]) c.1306_*3delinsTAAGGG (n.[c.1306_*3delinsTAAGGG;Ter436=]) c.1213_*3delinsTAAGGG (n.[c.1213_*3delinsTAAGGG;Ter405=]) | |
X | g.19359651_19359657delinsTAAGGGG | CA2418225628 | PDHA1 | c.1192_*4delinsTAAGGGG (n.[c.1192_*4delinsTAAGGGG;Ter398=]) c.*863_*869delinsTAAGGGG (n.*863_*869delinsTAAGGGG) c.1255_*4delinsTAAGGGG (n.[c.1255_*4delinsTAAGGGG;Ter419=]) c.1285_*4delinsTAAGGGG (n.[c.1285_*4delinsTAAGGGG;Ter429=]) n.966_972delinsTAAGGGG c.*503_*509delinsTAAGGGG (n.*503_*509delinsTAAGGGG) c.*626_*632delinsTAAGGGG (n.*626_*632delinsTAAGGGG) c.1171_*4delinsTAAGGGG (n.[c.1171_*4delinsTAAGGGG;Ter391=]) c.328_*4delinsTAAGGGG (n.[c.328_*4delinsTAAGGGG;Ter110=]) n.610_616delinsTAAGGGG c.1078_*4delinsTAAGGGG (n.[c.1078_*4delinsTAAGGGG;Ter360=]) c.1306_*4delinsTAAGGGG (n.[c.1306_*4delinsTAAGGGG;Ter436=]) c.1213_*4delinsTAAGGGG (n.[c.1213_*4delinsTAAGGGG;Ter405=]) | |
X | g.19359651_19359662delinsTAAGGGGAGGAG | CA2418225629 | PDHA1 | c.1192_*9delinsTAAGGGGAGGAG (n.[c.1192_*9delinsTAAGGGGAGGAG;Ter398=]) c.*863_*874delinsTAAGGGGAGGAG (n.*863_*874delinsTAAGGGGAGGAG) c.1255_*9delinsTAAGGGGAGGAG (n.[c.1255_*9delinsTAAGGGGAGGAG;Ter419=]) c.1285_*9delinsTAAGGGGAGGAG (n.[c.1285_*9delinsTAAGGGGAGGAG;Ter429=]) n.966_977delinsTAAGGGGAGGAG c.*503_*514delinsTAAGGGGAGGAG (n.*503_*514delinsTAAGGGGAGGAG) c.*626_*637delinsTAAGGGGAGGAG (n.*626_*637delinsTAAGGGGAGGAG) c.1171_*9delinsTAAGGGGAGGAG (n.[c.1171_*9delinsTAAGGGGAGGAG;Ter391=]) c.328_*9delinsTAAGGGGAGGAG (n.[c.328_*9delinsTAAGGGGAGGAG;Ter110=]) n.610_621delinsTAAGGGGAGGAG c.1078_*9delinsTAAGGGGAGGAG (n.[c.1078_*9delinsTAAGGGGAGGAG;Ter360=]) c.1306_*9delinsTAAGGGGAGGAG (n.[c.1306_*9delinsTAAGGGGAGGAG;Ter436=]) c.1213_*9delinsTAAGGGGAGGAG (n.[c.1213_*9delinsTAAGGGGAGGAG;Ter405=]) | |
X | g.19359652A= | CA2418225631 | PDHA1 | c.1193A= (p.Ter398=) c.*864A= (n.*864A=) c.1256A= (p.Ter419=) c.1286A= (p.Ter429=) n.967A= c.*504A= (n.*504A=) c.*627A= (n.*627A=) c.1172A= (p.Ter391=) c.329A= (p.Ter110=) n.611A= c.1079A= (p.Ter360=) c.1307A= (p.Ter436=) c.1214A= (p.Ter405=) | |
X | g.19359652A>C | CA412397533 | PDHA1 | c.1193A>C (p.Ter398Ser) c.*864A>C (n.*864A>C) c.1256A>C (p.Ter419Ser) c.1286A>C (p.Ter429Ser) n.967A>C c.*504A>C (n.*504A>C) c.*627A>C (n.*627A>C) c.1172A>C (p.Ter391Ser) c.329A>C (p.Ter110Ser) n.611A>C c.1079A>C (p.Ter360Ser) c.1307A>C (p.Ter436Ser) c.1214A>C (p.Ter405Ser) | |
X | g.19359652A>G | CA515486505 | PDHA1 | c.1193A>G (p.Ter398=) c.*864A>G (n.*864A>G) c.1256A>G (p.Ter419=) c.1286A>G (p.Ter429=) n.967A>G c.*504A>G (n.*504A>G) c.*627A>G (n.*627A>G) c.1172A>G (p.Ter391=) c.329A>G (p.Ter110=) n.611A>G c.1079A>G (p.Ter360=) c.1307A>G (p.Ter436=) c.1214A>G (p.Ter405=) | |
X | g.19359652A>T | CA412397537 | PDHA1 | c.1193A>T (p.Ter398Leu) c.*864A>T (n.*864A>T) c.1256A>T (p.Ter419Leu) c.1286A>T (p.Ter429Leu) n.967A>T c.*504A>T (n.*504A>T) c.*627A>T (n.*627A>T) c.1172A>T (p.Ter391Leu) c.329A>T (p.Ter110Leu) n.611A>T c.1079A>T (p.Ter360Leu) c.1307A>T (p.Ter436Leu) c.1214A>T (p.Ter405Leu) | |
X | g.19359652_19359656del | CA658799596 | PDHA1 | c.1193_*3del (n.[c.1193_*3del;Ter398=]) c.*864_*868del (n.*864_*868del) c.1256_*3del (n.[c.1256_*3del;Ter419=]) c.1286_*3del (n.[c.1286_*3del;Ter429=]) n.967_971del c.*504_*508del (n.*504_*508del) c.*627_*631del (n.*627_*631del) c.1172_*3del (n.[c.1172_*3del;Ter391=]) c.329_*3del (n.[c.329_*3del;Ter110=]) n.611_615del c.1079_*3del (n.[c.1079_*3del;Ter360=]) c.1307_*3del (n.[c.1307_*3del;Ter436=]) c.1214_*3del (n.[c.1214_*3del;Ter405=]) | ClinVar dbSNP |
X | g.19359652_19359656dup | CA2693251343 | PDHA1 | c.1193_*3dup (n.1193_*3dup) c.*864_*868dup (n.*864_*868dup) c.1256_*3dup (n.1256_*3dup) c.1286_*3dup (n.1286_*3dup) n.967_971dup c.*504_*508dup (n.*504_*508dup) c.*627_*631dup (n.*627_*631dup) c.1172_*3dup (n.1172_*3dup) c.329_*3dup (n.329_*3dup) n.611_615dup c.1079_*3dup (n.1079_*3dup) c.1307_*3dup (n.1307_*3dup) c.1214_*3dup (n.1214_*3dup) | gnomAD v4 |
X | g.19359653_19359658del | CA10363224 | PDHA1 | c.1194_*5del (n.[c.1194_*5del;Ter398=]) c.*865_*870del (n.*865_*870del) c.1257_*5del (n.[c.1257_*5del;Ter419=]) c.1287_*5del (n.[c.1287_*5del;Ter429=]) n.968_973del c.*505_*510del (n.*505_*510del) c.*628_*633del (n.*628_*633del) c.1173_*5del (n.[c.1173_*5del;Ter391=]) c.330_*5del (n.[c.330_*5del;Ter110=]) n.612_617del c.1080_*5del (n.[c.1080_*5del;Ter360=]) c.1308_*5del (n.[c.1308_*5del;Ter436=]) c.1215_*5del (n.[c.1215_*5del;Ter405=]) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359656_19359666del | CA10363225 | PDHA1 | c.*3_*13del (n.*3_*13del) c.*868_*878del (n.*868_*878del) n.971_981del c.*508_*518del (n.*508_*518del) c.*631_*641del (n.*631_*641del) n.615_625del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359653A>C | CA412397552 | PDHA1 | c.1194A>C (p.Ter398Tyr) c.*865A>C (n.*865A>C) c.1257A>C (p.Ter419Tyr) c.1287A>C (p.Ter429Tyr) n.968A>C c.*505A>C (n.*505A>C) c.*628A>C (n.*628A>C) c.1173A>C (p.Ter391Tyr) c.330A>C (p.Ter110Tyr) n.612A>C c.1080A>C (p.Ter360Tyr) c.1308A>C (p.Ter436Tyr) c.1215A>C (p.Ter405Tyr) | |
X | g.19359653A>G | CA515486506 | PDHA1 | c.1194A>G (p.Ter398=) c.*865A>G (n.*865A>G) c.1257A>G (p.Ter419=) c.1287A>G (p.Ter429=) n.968A>G c.*505A>G (n.*505A>G) c.*628A>G (n.*628A>G) c.1173A>G (p.Ter391=) c.330A>G (p.Ter110=) n.612A>G c.1080A>G (p.Ter360=) c.1308A>G (p.Ter436=) c.1215A>G (p.Ter405=) | |
X | g.19359653A>T | CA412397556 | PDHA1 | c.1194A>T (p.Ter398Tyr) c.*865A>T (n.*865A>T) c.1257A>T (p.Ter419Tyr) c.1287A>T (p.Ter429Tyr) n.968A>T c.*505A>T (n.*505A>T) c.*628A>T (n.*628A>T) c.1173A>T (p.Ter391Tyr) c.330A>T (p.Ter110Tyr) n.612A>T c.1080A>T (p.Ter360Tyr) c.1308A>T (p.Ter436Tyr) c.1215A>T (p.Ter405Tyr) | |
X | g.19359653_19359683dup | CA640857099 | PDHA1 | c.1194_*30dup (n.1194_*30dup) c.*865_*895dup (n.*865_*895dup) c.1257_*30dup (n.1257_*30dup) c.1287_*30dup (n.1287_*30dup) n.968_998dup c.*505_*535dup (n.*505_*535dup) c.*628_*658dup (n.*628_*658dup) c.1173_*30dup (n.1173_*30dup) c.330_*30dup (n.330_*30dup) n.612_642dup c.1080_*30dup (n.1080_*30dup) c.1308_*30dup (n.1308_*30dup) c.1215_*30dup (n.1215_*30dup) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359654G>A | CA2418225632 | PDHA1 | c.*1G>A (n.*1G>A) c.*866G>A (n.*866G>A) n.969G>A c.*506G>A (n.*506G>A) c.*629G>A (n.*629G>A) n.613G>A | dbSNP |
X | g.19359654G>C | CA1131434610 | PDHA1 | c.*1G>C (n.*1G>C) c.*866G>C (n.*866G>C) n.969G>C c.*506G>C (n.*506G>C) c.*629G>C (n.*629G>C) n.613G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.19359654G= | CA2418225633 | PDHA1 | c.*1G= (n.*1G=) c.*866G= (n.*866G=) n.969G= c.*506G= (n.*506G=) c.*629G= (n.*629G=) n.613G= | |
X | g.19359654G>T | CA2740044066 | PDHA1 | c.*1G>T (n.*1G>T) c.*866G>T (n.*866G>T) n.969G>T c.*506G>T (n.*506G>T) c.*629G>T (n.*629G>T) n.613G>T |