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.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.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.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=) |