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.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.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.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.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.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.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.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=]) |