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.19359467_19359537dup | CA913191132 | PDHA1 | c.1030-22_1078dup c.*701-22_*749dup c.1093-22_1141dup c.1123-22_1171dup n.804-22_852dup c.*341-22_*389dup c.*464-22_*512dup c.1009-22_1057dup c.166-22_214dup n.448-22_496dup c.916-22_964dup c.1144-22_1192dup c.1051-22_1099dup | ClinVar dbSNP |
| 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.19359537G>A | CA412396573 | PDHA1 | c.1078G>A (p.Ala360Thr) c.*749G>A (n.*749G>A) c.1141G>A (p.Ala381Thr) c.1171G>A (p.Ala391Thr) n.852G>A c.*389G>A (n.*389G>A) c.*512G>A (n.*512G>A) c.1057G>A (p.Ala353Thr) c.214G>A (p.Ala72Thr) n.496G>A c.964G>A (p.Ala322Thr) c.1192G>A (p.Ala398Thr) c.1099G>A (p.Ala367Thr) | |
| X | g.19359537G>C | CA412396575 | PDHA1 | c.1078G>C (p.Ala360Pro) c.*749G>C (n.*749G>C) c.1141G>C (p.Ala381Pro) c.1171G>C (p.Ala391Pro) n.852G>C c.*389G>C (n.*389G>C) c.*512G>C (n.*512G>C) c.1057G>C (p.Ala353Pro) c.214G>C (p.Ala72Pro) n.496G>C c.964G>C (p.Ala322Pro) c.1192G>C (p.Ala398Pro) c.1099G>C (p.Ala367Pro) | |
| X | g.19359537G>T | CA412396577 | PDHA1 | c.1078G>T (p.Ala360Ser) c.*749G>T (n.*749G>T) c.1141G>T (p.Ala381Ser) c.1171G>T (p.Ala391Ser) n.852G>T c.*389G>T (n.*389G>T) c.*512G>T (n.*512G>T) c.1057G>T (p.Ala353Ser) c.214G>T (p.Ala72Ser) n.496G>T c.964G>T (p.Ala322Ser) c.1192G>T (p.Ala398Ser) c.1099G>T (p.Ala367Ser) | |
| X | g.19359538C>A | CA412396582 | PDHA1 | c.1079C>A (p.Ala360Asp) c.*750C>A (n.*750C>A) c.1142C>A (p.Ala381Asp) c.1172C>A (p.Ala391Asp) n.853C>A c.*390C>A (n.*390C>A) c.*513C>A (n.*513C>A) c.1058C>A (p.Ala353Asp) c.215C>A (p.Ala72Asp) n.497C>A c.965C>A (p.Ala322Asp) c.1193C>A (p.Ala398Asp) c.1100C>A (p.Ala367Asp) | |
| X | g.19359538C= | CA2418225578 | PDHA1 | c.1079C= (p.Ala360=) c.*750C= (n.*750C=) c.1142C= (p.Ala381=) c.1172C= (p.Ala391=) n.853C= c.*390C= (n.*390C=) c.*513C= (n.*513C=) c.1058C= (p.Ala353=) c.215C= (p.Ala72=) n.497C= c.965C= (p.Ala322=) c.1193C= (p.Ala398=) c.1100C= (p.Ala367=) | |
| X | g.19359538C>G | CA412396584 | PDHA1 | c.1079C>G (p.Ala360Gly) c.*750C>G (n.*750C>G) c.1142C>G (p.Ala381Gly) c.1172C>G (p.Ala391Gly) n.853C>G c.*390C>G (n.*390C>G) c.*513C>G (n.*513C>G) c.1058C>G (p.Ala353Gly) c.215C>G (p.Ala72Gly) n.497C>G c.965C>G (p.Ala322Gly) c.1193C>G (p.Ala398Gly) c.1100C>G (p.Ala367Gly) | |
| X | g.19359538C>T | CA412396579 | PDHA1 | c.1079C>T (p.Ala360Val) c.*750C>T (n.*750C>T) c.1142C>T (p.Ala381Val) c.1172C>T (p.Ala391Val) n.853C>T c.*390C>T (n.*390C>T) c.*513C>T (n.*513C>T) c.1058C>T (p.Ala353Val) c.215C>T (p.Ala72Val) n.497C>T c.965C>T (p.Ala322Val) c.1193C>T (p.Ala398Val) c.1100C>T (p.Ala367Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359539del | CA2579566472 | PDHA1 | c.1080del (p.Thr361ArgfsTer?) c.*751del (n.*751del) c.1143del (p.Thr382ArgfsTer?) c.1173del (p.Thr392ArgfsTer?) n.854del c.*391del (n.*391del) c.*514del (n.*514del) c.1059del (p.Thr354ArgfsTer?) c.216del (p.Thr73ArgfsTer?) n.498del c.966del (p.Thr323ArgfsTer?) c.1194del (p.Thr399ArgfsTer?) c.1101del (p.Thr368ArgfsTer?) | |
| X | g.19359539C>A | CA515486429 | PDHA1 | c.1080C>A (p.Ala360=) c.*751C>A (n.*751C>A) c.1143C>A (p.Ala381=) c.1173C>A (p.Ala391=) n.854C>A c.*391C>A (n.*391C>A) c.*514C>A (n.*514C>A) c.1059C>A (p.Ala353=) c.216C>A (p.Ala72=) n.498C>A c.966C>A (p.Ala322=) c.1194C>A (p.Ala398=) c.1101C>A (p.Ala367=) | COSMIC COSMIC |
| X | g.19359539C= | CA2418225579 | PDHA1 | c.1080C= (p.Ala360=) c.*751C= (n.*751C=) c.1143C= (p.Ala381=) c.1173C= (p.Ala391=) n.854C= c.*391C= (n.*391C=) c.*514C= (n.*514C=) c.1059C= (p.Ala353=) c.216C= (p.Ala72=) n.498C= c.966C= (p.Ala322=) c.1194C= (p.Ala398=) c.1101C= (p.Ala367=) | |
| X | g.19359539C>G | CA515486430 | PDHA1 | c.1080C>G (p.Ala360=) c.*751C>G (n.*751C>G) c.1143C>G (p.Ala381=) c.1173C>G (p.Ala391=) n.854C>G c.*391C>G (n.*391C>G) c.*514C>G (n.*514C>G) c.1059C>G (p.Ala353=) c.216C>G (p.Ala72=) n.498C>G c.966C>G (p.Ala322=) c.1194C>G (p.Ala398=) c.1101C>G (p.Ala367=) | |
| X | g.19359539C>T | CA515486431 | PDHA1 | c.1080C>T (p.Ala360=) c.*751C>T (n.*751C>T) c.1143C>T (p.Ala381=) c.1173C>T (p.Ala391=) n.854C>T c.*391C>T (n.*391C>T) c.*514C>T (n.*514C>T) c.1059C>T (p.Ala353=) c.216C>T (p.Ala72=) n.498C>T c.966C>T (p.Ala322=) c.1194C>T (p.Ala398=) c.1101C>T (p.Ala367=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359540A= | CA2418225580 | PDHA1 | c.1081A= (p.Thr361=) c.*752A= (n.*752A=) c.1144A= (p.Thr382=) c.1174A= (p.Thr392=) n.855A= c.*392A= (n.*392A=) c.*515A= (n.*515A=) c.1060A= (p.Thr354=) c.217A= (p.Thr73=) n.499A= c.967A= (p.Thr323=) c.1195A= (p.Thr399=) c.1102A= (p.Thr368=) | |
| X | g.19359540A>C | CA412396586 | PDHA1 | c.1081A>C (p.Thr361Pro) c.*752A>C (n.*752A>C) c.1144A>C (p.Thr382Pro) c.1174A>C (p.Thr392Pro) n.855A>C c.*392A>C (n.*392A>C) c.*515A>C (n.*515A>C) c.1060A>C (p.Thr354Pro) c.217A>C (p.Thr73Pro) n.499A>C c.967A>C (p.Thr323Pro) c.1195A>C (p.Thr399Pro) c.1102A>C (p.Thr368Pro) | ClinVar dbSNP |
| X | g.19359540A>G | CA412396588 | PDHA1 | c.1081A>G (p.Thr361Ala) c.*752A>G (n.*752A>G) c.1144A>G (p.Thr382Ala) c.1174A>G (p.Thr392Ala) n.855A>G c.*392A>G (n.*392A>G) c.*515A>G (n.*515A>G) c.1060A>G (p.Thr354Ala) c.217A>G (p.Thr73Ala) n.499A>G c.967A>G (p.Thr323Ala) c.1195A>G (p.Thr399Ala) c.1102A>G (p.Thr368Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359540A>T | CA412396589 | PDHA1 | c.1081A>T (p.Thr361Ser) c.*752A>T (n.*752A>T) c.1144A>T (p.Thr382Ser) c.1174A>T (p.Thr392Ser) n.855A>T c.*392A>T (n.*392A>T) c.*515A>T (n.*515A>T) c.1060A>T (p.Thr354Ser) c.217A>T (p.Thr73Ser) n.499A>T c.967A>T (p.Thr323Ser) c.1195A>T (p.Thr399Ser) c.1102A>T (p.Thr368Ser) | |
| X | g.19359541C>A | CA412396591 | PDHA1 | c.1082C>A (p.Thr361Lys) c.*753C>A (n.*753C>A) c.1145C>A (p.Thr382Lys) c.1175C>A (p.Thr392Lys) n.856C>A c.*393C>A (n.*393C>A) c.*516C>A (n.*516C>A) c.1061C>A (p.Thr354Lys) c.218C>A (p.Thr73Lys) n.500C>A c.968C>A (p.Thr323Lys) c.1196C>A (p.Thr399Lys) c.1103C>A (p.Thr368Lys) | |
| X | g.19359541C= | CA2418225581 | PDHA1 | c.1082C= (p.Thr361=) c.*753C= (n.*753C=) c.1145C= (p.Thr382=) c.1175C= (p.Thr392=) n.856C= c.*393C= (n.*393C=) c.*516C= (n.*516C=) c.1061C= (p.Thr354=) c.218C= (p.Thr73=) n.500C= c.968C= (p.Thr323=) c.1196C= (p.Thr399=) c.1103C= (p.Thr368=) | |
| X | g.19359541C>G | CA412396593 | PDHA1 | c.1082C>G (p.Thr361Arg) c.*753C>G (n.*753C>G) c.1145C>G (p.Thr382Arg) c.1175C>G (p.Thr392Arg) n.856C>G c.*393C>G (n.*393C>G) c.*516C>G (n.*516C>G) c.1061C>G (p.Thr354Arg) c.218C>G (p.Thr73Arg) n.500C>G c.968C>G (p.Thr323Arg) c.1196C>G (p.Thr399Arg) c.1103C>G (p.Thr368Arg) | |
| X | g.19359541C>T | CA10363204 | PDHA1 | c.1082C>T (p.Thr361Met) c.*753C>T (n.*753C>T) c.1145C>T (p.Thr382Met) c.1175C>T (p.Thr392Met) n.856C>T c.*393C>T (n.*393C>T) c.*516C>T (n.*516C>T) c.1061C>T (p.Thr354Met) c.218C>T (p.Thr73Met) n.500C>T c.968C>T (p.Thr323Met) c.1196C>T (p.Thr399Met) c.1103C>T (p.Thr368Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359542G>A | CA10363206 | PDHA1 | c.1083G>A (p.Thr361=) c.*754G>A (n.*754G>A) c.1146G>A (p.Thr382=) c.1176G>A (p.Thr392=) n.857G>A c.*394G>A (n.*394G>A) c.*517G>A (n.*517G>A) c.1062G>A (p.Thr354=) c.219G>A (p.Thr73=) n.501G>A c.969G>A (p.Thr323=) c.1197G>A (p.Thr399=) c.1104G>A (p.Thr368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359542G>C | CA515486432 | PDHA1 | c.1083G>C (p.Thr361=) c.*754G>C (n.*754G>C) c.1146G>C (p.Thr382=) c.1176G>C (p.Thr392=) n.857G>C c.*394G>C (n.*394G>C) c.*517G>C (n.*517G>C) c.1062G>C (p.Thr354=) c.219G>C (p.Thr73=) n.501G>C c.969G>C (p.Thr323=) c.1197G>C (p.Thr399=) c.1104G>C (p.Thr368=) | dbSNP |
| X | g.19359542G= | CA2418225582 | PDHA1 | c.1083G= (p.Thr361=) c.*754G= (n.*754G=) c.1146G= (p.Thr382=) c.1176G= (p.Thr392=) n.857G= c.*394G= (n.*394G=) c.*517G= (n.*517G=) c.1062G= (p.Thr354=) c.219G= (p.Thr73=) n.501G= c.969G= (p.Thr323=) c.1197G= (p.Thr399=) c.1104G= (p.Thr368=) | |
| X | g.19359542G>T | CA10363205 | PDHA1 | c.1083G>T (p.Thr361=) c.*754G>T (n.*754G>T) c.1146G>T (p.Thr382=) c.1176G>T (p.Thr392=) n.857G>T c.*394G>T (n.*394G>T) c.*517G>T (n.*517G>T) c.1062G>T (p.Thr354=) c.219G>T (p.Thr73=) n.501G>T c.969G>T (p.Thr323=) c.1197G>T (p.Thr399=) c.1104G>T (p.Thr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359543G>A | CA412396598 | PDHA1 | c.1084G>A (p.Ala362Thr) c.*755G>A (n.*755G>A) c.1147G>A (p.Ala383Thr) c.1177G>A (p.Ala393Thr) n.858G>A c.*395G>A (n.*395G>A) c.*518G>A (n.*518G>A) c.1063G>A (p.Ala355Thr) c.220G>A (p.Ala74Thr) n.502G>A c.970G>A (p.Ala324Thr) c.1198G>A (p.Ala400Thr) c.1105G>A (p.Ala369Thr) | ClinVar dbSNP |
| X | g.19359543G>C | CA412396600 | PDHA1 | c.1084G>C (p.Ala362Pro) c.*755G>C (n.*755G>C) c.1147G>C (p.Ala383Pro) c.1177G>C (p.Ala393Pro) n.858G>C c.*395G>C (n.*395G>C) c.*518G>C (n.*518G>C) c.1063G>C (p.Ala355Pro) c.220G>C (p.Ala74Pro) n.502G>C c.970G>C (p.Ala324Pro) c.1198G>C (p.Ala400Pro) c.1105G>C (p.Ala369Pro) | |
| X | g.19359543G= | CA2418225583 | PDHA1 | c.1084G= (p.Ala362=) c.*755G= (n.*755G=) c.1147G= (p.Ala383=) c.1177G= (p.Ala393=) n.858G= c.*395G= (n.*395G=) c.*518G= (n.*518G=) c.1063G= (p.Ala355=) c.220G= (p.Ala74=) n.502G= c.970G= (p.Ala324=) c.1198G= (p.Ala400=) c.1105G= (p.Ala369=) | |
| X | g.19359543G>T | CA327031144 | PDHA1 | c.1084G>T (p.Ala362Ser) c.*755G>T (n.*755G>T) c.1147G>T (p.Ala383Ser) c.1177G>T (p.Ala393Ser) n.858G>T c.*395G>T (n.*395G>T) c.*518G>T (n.*518G>T) c.1063G>T (p.Ala355Ser) c.220G>T (p.Ala74Ser) n.502G>T c.970G>T (p.Ala324Ser) c.1198G>T (p.Ala400Ser) c.1105G>T (p.Ala369Ser) | dbSNP gnomAD v4 |
| 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.19359544C>A | CA412396604 | PDHA1 | c.1085C>A (p.Ala362Asp) c.*756C>A (n.*756C>A) c.1148C>A (p.Ala383Asp) c.1178C>A (p.Ala393Asp) n.859C>A c.*396C>A (n.*396C>A) c.*519C>A (n.*519C>A) c.1064C>A (p.Ala355Asp) c.221C>A (p.Ala74Asp) n.503C>A c.971C>A (p.Ala324Asp) c.1199C>A (p.Ala400Asp) c.1106C>A (p.Ala369Asp) | |
| X | g.19359544C>G | CA412396606 | PDHA1 | c.1085C>G (p.Ala362Gly) c.*756C>G (n.*756C>G) c.1148C>G (p.Ala383Gly) c.1178C>G (p.Ala393Gly) n.859C>G c.*396C>G (n.*396C>G) c.*519C>G (n.*519C>G) c.1064C>G (p.Ala355Gly) c.221C>G (p.Ala74Gly) n.503C>G c.971C>G (p.Ala324Gly) c.1199C>G (p.Ala400Gly) c.1106C>G (p.Ala369Gly) | |
| X | g.19359544C>T | CA412396608 | PDHA1 | c.1085C>T (p.Ala362Val) c.*756C>T (n.*756C>T) c.1148C>T (p.Ala383Val) c.1178C>T (p.Ala393Val) n.859C>T c.*396C>T (n.*396C>T) c.*519C>T (n.*519C>T) c.1064C>T (p.Ala355Val) c.221C>T (p.Ala74Val) n.503C>T c.971C>T (p.Ala324Val) c.1199C>T (p.Ala400Val) c.1106C>T (p.Ala369Val) | |
| X | g.19359545C>A | CA515486433 | PDHA1 | c.1086C>A (p.Ala362=) c.*757C>A (n.*757C>A) c.1149C>A (p.Ala383=) c.1179C>A (p.Ala393=) n.860C>A c.*397C>A (n.*397C>A) c.*520C>A (n.*520C>A) c.1065C>A (p.Ala355=) c.222C>A (p.Ala74=) n.504C>A c.972C>A (p.Ala324=) c.1200C>A (p.Ala400=) c.1107C>A (p.Ala369=) | ClinVar dbSNP gnomAD v4 |
| X | g.19359545C= | CA2418225584 | PDHA1 | c.1086C= (p.Ala362=) c.*757C= (n.*757C=) c.1149C= (p.Ala383=) c.1179C= (p.Ala393=) n.860C= c.*397C= (n.*397C=) c.*520C= (n.*520C=) c.1065C= (p.Ala355=) c.222C= (p.Ala74=) n.504C= c.972C= (p.Ala324=) c.1200C= (p.Ala400=) c.1107C= (p.Ala369=) | |
| X | g.19359545C>G | CA515486434 | PDHA1 | c.1086C>G (p.Ala362=) c.*757C>G (n.*757C>G) c.1149C>G (p.Ala383=) c.1179C>G (p.Ala393=) n.860C>G c.*397C>G (n.*397C>G) c.*520C>G (n.*520C>G) c.1065C>G (p.Ala355=) c.222C>G (p.Ala74=) n.504C>G c.972C>G (p.Ala324=) c.1200C>G (p.Ala400=) c.1107C>G (p.Ala369=) | |
| X | g.19359545C>T | CA10363207 | PDHA1 | c.1086C>T (p.Ala362=) c.*757C>T (n.*757C>T) c.1149C>T (p.Ala383=) c.1179C>T (p.Ala393=) n.860C>T c.*397C>T (n.*397C>T) c.*520C>T (n.*520C>T) c.1065C>T (p.Ala355=) c.222C>T (p.Ala74=) n.504C>T c.972C>T (p.Ala324=) c.1200C>T (p.Ala400=) c.1107C>T (p.Ala369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359546G>A | CA10363208 | PDHA1 | c.1087G>A (p.Asp363Asn) c.*758G>A (n.*758G>A) c.1150G>A (p.Asp384Asn) c.1180G>A (p.Asp394Asn) n.861G>A c.*398G>A (n.*398G>A) c.*521G>A (n.*521G>A) c.1066G>A (p.Asp356Asn) c.223G>A (p.Asp75Asn) n.505G>A c.973G>A (p.Asp325Asn) c.1201G>A (p.Asp401Asn) c.1108G>A (p.Asp370Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359546G>C | CA412396616 | PDHA1 | c.1087G>C (p.Asp363His) c.*758G>C (n.*758G>C) c.1150G>C (p.Asp384His) c.1180G>C (p.Asp394His) n.861G>C c.*398G>C (n.*398G>C) c.*521G>C (n.*521G>C) c.1066G>C (p.Asp356His) c.223G>C (p.Asp75His) n.505G>C c.973G>C (p.Asp325His) c.1201G>C (p.Asp401His) c.1108G>C (p.Asp370His) | |
| X | g.19359546G= | CA2418225585 | PDHA1 | c.1087G= (p.Asp363=) c.*758G= (n.*758G=) c.1150G= (p.Asp384=) c.1180G= (p.Asp394=) n.861G= c.*398G= (n.*398G=) c.*521G= (n.*521G=) c.1066G= (p.Asp356=) c.223G= (p.Asp75=) n.505G= c.973G= (p.Asp325=) c.1201G= (p.Asp401=) c.1108G= (p.Asp370=) | |
| X | g.19359546G>T | CA412396613 | PDHA1 | c.1087G>T (p.Asp363Tyr) c.*758G>T (n.*758G>T) c.1150G>T (p.Asp384Tyr) c.1180G>T (p.Asp394Tyr) n.861G>T c.*398G>T (n.*398G>T) c.*521G>T (n.*521G>T) c.1066G>T (p.Asp356Tyr) c.223G>T (p.Asp75Tyr) n.505G>T c.973G>T (p.Asp325Tyr) c.1201G>T (p.Asp401Tyr) c.1108G>T (p.Asp370Tyr) | |
| 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.19359547A>C | CA412396618 | PDHA1 | c.1088A>C (p.Asp363Ala) c.*759A>C (n.*759A>C) c.1151A>C (p.Asp384Ala) c.1181A>C (p.Asp394Ala) n.862A>C c.*399A>C (n.*399A>C) c.*522A>C (n.*522A>C) c.1067A>C (p.Asp356Ala) c.224A>C (p.Asp75Ala) n.506A>C c.974A>C (p.Asp325Ala) c.1202A>C (p.Asp401Ala) c.1109A>C (p.Asp370Ala) | |
| X | g.19359547A>G | CA412396620 | PDHA1 | c.1088A>G (p.Asp363Gly) c.*759A>G (n.*759A>G) c.1151A>G (p.Asp384Gly) c.1181A>G (p.Asp394Gly) n.862A>G c.*399A>G (n.*399A>G) c.*522A>G (n.*522A>G) c.1067A>G (p.Asp356Gly) c.224A>G (p.Asp75Gly) n.506A>G c.974A>G (p.Asp325Gly) c.1202A>G (p.Asp401Gly) c.1109A>G (p.Asp370Gly) | |
| X | g.19359547A>T | CA412396622 | PDHA1 | c.1088A>T (p.Asp363Val) c.*759A>T (n.*759A>T) c.1151A>T (p.Asp384Val) c.1181A>T (p.Asp394Val) n.862A>T c.*399A>T (n.*399A>T) c.*522A>T (n.*522A>T) c.1067A>T (p.Asp356Val) c.224A>T (p.Asp75Val) n.506A>T c.974A>T (p.Asp325Val) c.1202A>T (p.Asp401Val) c.1109A>T (p.Asp370Val) | |
| 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=) |