WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359530_19359613dup | CA658684284 | PDHA1 | c.1071_1154dup (p.Arg385_Gly386insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.*742_*825dup (n.*742_*825dup) c.1134_1217dup (p.Arg406_Gly407insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1164_1247dup (p.Arg416_Gly417insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.845_928dup c.*382_*465dup (n.*382_*465dup) c.*505_*588dup (n.*505_*588dup) c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.207_290dup (p.Arg97_Gly98insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.489_572dup c.957_1040dup (p.Arg347_Gly348insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1185_1268dup (p.Arg423_Gly424insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1092_1175dup (p.Arg392_Gly393insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) | ClinVar dbSNP |
| X | g.19359543_19359548del | CA2695231669 | PDHA1 | c.1084_1089del (p.Ala362_Asp363del) c.*755_*760del (n.*755_*760del) c.1147_1152del (p.Ala383_Asp384del) c.1177_1182del (p.Ala393_Asp394del) n.858_863del c.*395_*400del (n.*395_*400del) c.*518_*523del (n.*518_*523del) c.1063_1068del (p.Ala355_Asp356del) c.220_225del (p.Ala74_Asp75del) n.502_507del c.970_975del (p.Ala324_Asp325del) c.1198_1203del (p.Ala400_Asp401del) c.1105_1110del (p.Ala369_Asp370del) | |
| 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.19359548T>A | CA412396625 | PDHA1 | c.1089T>A (p.Asp363Glu) c.*760T>A (n.*760T>A) c.1152T>A (p.Asp384Glu) c.1182T>A (p.Asp394Glu) n.863T>A c.*400T>A (n.*400T>A) c.*523T>A (n.*523T>A) c.1068T>A (p.Asp356Glu) c.225T>A (p.Asp75Glu) n.507T>A c.975T>A (p.Asp325Glu) c.1203T>A (p.Asp401Glu) c.1110T>A (p.Asp370Glu) | |
| X | g.19359548T>C | CA10363209 | PDHA1 | c.1089T>C (p.Asp363=) c.*760T>C (n.*760T>C) c.1152T>C (p.Asp384=) c.1182T>C (p.Asp394=) n.863T>C c.*400T>C (n.*400T>C) c.*523T>C (n.*523T>C) c.1068T>C (p.Asp356=) c.225T>C (p.Asp75=) n.507T>C c.975T>C (p.Asp325=) c.1203T>C (p.Asp401=) c.1110T>C (p.Asp370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359548T>G | CA412396628 | PDHA1 | c.1089T>G (p.Asp363Glu) c.*760T>G (n.*760T>G) c.1152T>G (p.Asp384Glu) c.1182T>G (p.Asp394Glu) n.863T>G c.*400T>G (n.*400T>G) c.*523T>G (n.*523T>G) c.1068T>G (p.Asp356Glu) c.225T>G (p.Asp75Glu) n.507T>G c.975T>G (p.Asp325Glu) c.1203T>G (p.Asp401Glu) c.1110T>G (p.Asp370Glu) | |
| X | g.19359548T= | CA2418225586 | PDHA1 | c.1089T= (p.Asp363=) c.*760T= (n.*760T=) c.1152T= (p.Asp384=) c.1182T= (p.Asp394=) n.863T= c.*400T= (n.*400T=) c.*523T= (n.*523T=) c.1068T= (p.Asp356=) c.225T= (p.Asp75=) n.507T= c.975T= (p.Asp325=) c.1203T= (p.Asp401=) c.1110T= (p.Asp370=) | |
| X | g.19359549C>A | CA412396630 | PDHA1 | c.1090C>A (p.Pro364Thr) c.*761C>A (n.*761C>A) c.1153C>A (p.Pro385Thr) c.1183C>A (p.Pro395Thr) n.864C>A c.*401C>A (n.*401C>A) c.*524C>A (n.*524C>A) c.1069C>A (p.Pro357Thr) c.226C>A (p.Pro76Thr) n.508C>A c.976C>A (p.Pro326Thr) c.1204C>A (p.Pro402Thr) c.1111C>A (p.Pro371Thr) | |
| X | g.19359549C>G | CA412396633 | PDHA1 | c.1090C>G (p.Pro364Ala) c.*761C>G (n.*761C>G) c.1153C>G (p.Pro385Ala) c.1183C>G (p.Pro395Ala) n.864C>G c.*401C>G (n.*401C>G) c.*524C>G (n.*524C>G) c.1069C>G (p.Pro357Ala) c.226C>G (p.Pro76Ala) n.508C>G c.976C>G (p.Pro326Ala) c.1204C>G (p.Pro402Ala) c.1111C>G (p.Pro371Ala) | ClinVar dbSNP |
| X | g.19359549C>T | CA412396635 | PDHA1 | c.1090C>T (p.Pro364Ser) c.*761C>T (n.*761C>T) c.1153C>T (p.Pro385Ser) c.1183C>T (p.Pro395Ser) n.864C>T c.*401C>T (n.*401C>T) c.*524C>T (n.*524C>T) c.1069C>T (p.Pro357Ser) c.226C>T (p.Pro76Ser) n.508C>T c.976C>T (p.Pro326Ser) c.1204C>T (p.Pro402Ser) c.1111C>T (p.Pro371Ser) | |
| 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.19359550C>A | CA412396638 | PDHA1 | c.1091C>A (p.Pro364His) c.*762C>A (n.*762C>A) c.1154C>A (p.Pro385His) c.1184C>A (p.Pro395His) n.865C>A c.*402C>A (n.*402C>A) c.*525C>A (n.*525C>A) c.1070C>A (p.Pro357His) c.227C>A (p.Pro76His) n.509C>A c.977C>A (p.Pro326His) c.1205C>A (p.Pro402His) c.1112C>A (p.Pro371His) | |
| X | g.19359550C>G | CA412396639 | PDHA1 | c.1091C>G (p.Pro364Arg) c.*762C>G (n.*762C>G) c.1154C>G (p.Pro385Arg) c.1184C>G (p.Pro395Arg) n.865C>G c.*402C>G (n.*402C>G) c.*525C>G (n.*525C>G) c.1070C>G (p.Pro357Arg) c.227C>G (p.Pro76Arg) n.509C>G c.977C>G (p.Pro326Arg) c.1205C>G (p.Pro402Arg) c.1112C>G (p.Pro371Arg) | |
| X | g.19359550C>T | CA412396642 | PDHA1 | c.1091C>T (p.Pro364Leu) c.*762C>T (n.*762C>T) c.1154C>T (p.Pro385Leu) c.1184C>T (p.Pro395Leu) n.865C>T c.*402C>T (n.*402C>T) c.*525C>T (n.*525C>T) c.1070C>T (p.Pro357Leu) c.227C>T (p.Pro76Leu) n.509C>T c.977C>T (p.Pro326Leu) c.1205C>T (p.Pro402Leu) c.1112C>T (p.Pro371Leu) | |
| 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.19359551T>A | CA515486435 | PDHA1 | c.1092T>A (p.Pro364=) c.*763T>A (n.*763T>A) c.1155T>A (p.Pro385=) c.1185T>A (p.Pro395=) n.866T>A c.*403T>A (n.*403T>A) c.*526T>A (n.*526T>A) c.1071T>A (p.Pro357=) c.228T>A (p.Pro76=) n.510T>A c.978T>A (p.Pro326=) c.1206T>A (p.Pro402=) c.1113T>A (p.Pro371=) | |
| X | g.19359551T>C | CA515486436 | PDHA1 | c.1092T>C (p.Pro364=) c.*763T>C (n.*763T>C) c.1155T>C (p.Pro385=) c.1185T>C (p.Pro395=) n.866T>C c.*403T>C (n.*403T>C) c.*526T>C (n.*526T>C) c.1071T>C (p.Pro357=) c.228T>C (p.Pro76=) n.510T>C c.978T>C (p.Pro326=) c.1206T>C (p.Pro402=) c.1113T>C (p.Pro371=) | gnomAD v4 |
| X | g.19359551T>G | CA515486437 | PDHA1 | c.1092T>G (p.Pro364=) c.*763T>G (n.*763T>G) c.1155T>G (p.Pro385=) c.1185T>G (p.Pro395=) n.866T>G c.*403T>G (n.*403T>G) c.*526T>G (n.*526T>G) c.1071T>G (p.Pro357=) c.228T>G (p.Pro76=) n.510T>G c.978T>G (p.Pro326=) c.1206T>G (p.Pro402=) c.1113T>G (p.Pro371=) | |
| 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.19359552G>A | CA412396646 | PDHA1 | c.1093G>A (p.Glu365Lys) c.*764G>A (n.*764G>A) c.1156G>A (p.Glu386Lys) c.1186G>A (p.Glu396Lys) n.867G>A c.*404G>A (n.*404G>A) c.*527G>A (n.*527G>A) c.1072G>A (p.Glu358Lys) c.229G>A (p.Glu77Lys) n.511G>A c.979G>A (p.Glu327Lys) c.1207G>A (p.Glu403Lys) c.1114G>A (p.Glu372Lys) | ClinVar dbSNP |
| X | g.19359552G>C | CA412396650 | PDHA1 | c.1093G>C (p.Glu365Gln) c.*764G>C (n.*764G>C) c.1156G>C (p.Glu386Gln) c.1186G>C (p.Glu396Gln) n.867G>C c.*404G>C (n.*404G>C) c.*527G>C (n.*527G>C) c.1072G>C (p.Glu358Gln) c.229G>C (p.Glu77Gln) n.511G>C c.979G>C (p.Glu327Gln) c.1207G>C (p.Glu403Gln) c.1114G>C (p.Glu372Gln) | |
| X | g.19359552G>T | CA412396648 | PDHA1 | c.1093G>T (p.Glu365Ter) c.*764G>T (n.*764G>T) c.1156G>T (p.Glu386Ter) c.1186G>T (p.Glu396Ter) n.867G>T c.*404G>T (n.*404G>T) c.*527G>T (n.*527G>T) c.1072G>T (p.Glu358Ter) c.229G>T (p.Glu77Ter) n.511G>T c.979G>T (p.Glu327Ter) c.1207G>T (p.Glu403Ter) c.1114G>T (p.Glu372Ter) | |
| X | g.19359553A= | CA2418225588 | PDHA1 | c.1094A= (p.Glu365=) c.*765A= (n.*765A=) c.1157A= (p.Glu386=) c.1187A= (p.Glu396=) n.868A= c.*405A= (n.*405A=) c.*528A= (n.*528A=) c.1073A= (p.Glu358=) c.230A= (p.Glu77=) n.512A= c.980A= (p.Glu327=) c.1208A= (p.Glu403=) c.1115A= (p.Glu372=) | |
| X | g.19359553A>C | CA412396652 | PDHA1 | c.1094A>C (p.Glu365Ala) c.*765A>C (n.*765A>C) c.1157A>C (p.Glu386Ala) c.1187A>C (p.Glu396Ala) n.868A>C c.*405A>C (n.*405A>C) c.*528A>C (n.*528A>C) c.1073A>C (p.Glu358Ala) c.230A>C (p.Glu77Ala) n.512A>C c.980A>C (p.Glu327Ala) c.1208A>C (p.Glu403Ala) c.1115A>C (p.Glu372Ala) | |
| X | g.19359553A>G | CA412396654 | PDHA1 | c.1094A>G (p.Glu365Gly) c.*765A>G (n.*765A>G) c.1157A>G (p.Glu386Gly) c.1187A>G (p.Glu396Gly) n.868A>G c.*405A>G (n.*405A>G) c.*528A>G (n.*528A>G) c.1073A>G (p.Glu358Gly) c.230A>G (p.Glu77Gly) n.512A>G c.980A>G (p.Glu327Gly) c.1208A>G (p.Glu403Gly) c.1115A>G (p.Glu372Gly) | |
| X | g.19359553A>T | CA412396656 | PDHA1 | c.1094A>T (p.Glu365Val) c.*765A>T (n.*765A>T) c.1157A>T (p.Glu386Val) c.1187A>T (p.Glu396Val) n.868A>T c.*405A>T (n.*405A>T) c.*528A>T (n.*528A>T) c.1073A>T (p.Glu358Val) c.230A>T (p.Glu77Val) n.512A>T c.980A>T (p.Glu327Val) c.1208A>T (p.Glu403Val) c.1115A>T (p.Glu372Val) | |
| 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=) |