UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.19359522_19359533del | CA2697552883 | PDHA1 | c.1063_1074del (p.Asp355_Gln358del) c.*734_*745del (n.*734_*745del) c.1126_1137del (p.Asp376_Gln379del) c.1156_1167del (p.Asp386_Gln389del) n.837_848del c.*374_*385del (n.*374_*385del) c.*497_*508del (n.*497_*508del) c.1042_1053del (p.Asp348_Gln351del) c.199_210del (p.Asp67_Gln70del) n.481_492del c.949_960del (p.Asp317_Gln320del) c.1177_1188del (p.Asp393_Gln396del) c.1084_1095del (p.Asp362_Gln365del) | ClinVar |
| X | g.19359523_19359533del | CA2580100436 | PDHA1 | c.1064_1074del (p.Asp355ValfsTer7) c.*735_*745del (n.*735_*745del) c.1127_1137del (p.Asp376ValfsTer7) c.1157_1167del (p.Asp386ValfsTer7) n.838_848del c.*375_*385del (n.*375_*385del) c.*498_*508del (n.*498_*508del) c.1043_1053del (p.Asp348ValfsTer7) c.200_210del (p.Asp67ValfsTer7) n.482_492del c.950_960del (p.Asp317ValfsTer7) c.1178_1188del (p.Asp393ValfsTer7) c.1085_1095del (p.Asp362ValfsTer7) | ClinVar |
| X | g.19359529C>A | CA412396535 | PDHA1 | c.1070C>A (p.Ala357Asp) c.*741C>A (n.*741C>A) c.1133C>A (p.Ala378Asp) c.1163C>A (p.Ala388Asp) n.844C>A c.*381C>A (n.*381C>A) c.*504C>A (n.*504C>A) c.1049C>A (p.Ala350Asp) c.206C>A (p.Ala69Asp) n.488C>A c.956C>A (p.Ala319Asp) c.1184C>A (p.Ala395Asp) c.1091C>A (p.Ala364Asp) | |
| X | g.19359529C= | CA2418225577 | PDHA1 | c.1070C= (p.Ala357=) c.*741C= (n.*741C=) c.1133C= (p.Ala378=) c.1163C= (p.Ala388=) n.844C= c.*381C= (n.*381C=) c.*504C= (n.*504C=) c.1049C= (p.Ala350=) c.206C= (p.Ala69=) n.488C= c.956C= (p.Ala319=) c.1184C= (p.Ala395=) c.1091C= (p.Ala364=) | |
| X | g.19359529C>G | CA412396537 | PDHA1 | c.1070C>G (p.Ala357Gly) c.*741C>G (n.*741C>G) c.1133C>G (p.Ala378Gly) c.1163C>G (p.Ala388Gly) n.844C>G c.*381C>G (n.*381C>G) c.*504C>G (n.*504C>G) c.1049C>G (p.Ala350Gly) c.206C>G (p.Ala69Gly) n.488C>G c.956C>G (p.Ala319Gly) c.1184C>G (p.Ala395Gly) c.1091C>G (p.Ala364Gly) | |
| X | g.19359529C>T | CA412396538 | PDHA1 | c.1070C>T (p.Ala357Val) c.*741C>T (n.*741C>T) c.1133C>T (p.Ala378Val) c.1163C>T (p.Ala388Val) n.844C>T c.*381C>T (n.*381C>T) c.*504C>T (n.*504C>T) c.1049C>T (p.Ala350Val) c.206C>T (p.Ala69Val) n.488C>T c.956C>T (p.Ala319Val) c.1184C>T (p.Ala395Val) c.1091C>T (p.Ala364Val) | |
| X | g.19359530_19359531del | CA2579566470 | PDHA1 | c.1071_1072del (p.Gln358ValfsTer7) c.*742_*743del (n.*742_*743del) c.1134_1135del (p.Gln379ValfsTer7) c.1164_1165del (p.Gln389ValfsTer7) n.845_846del c.*382_*383del (n.*382_*383del) c.*505_*506del (n.*505_*506del) c.1050_1051del (p.Gln351ValfsTer7) c.207_208del (p.Gln70ValfsTer7) n.489_490del c.957_958del (p.Gln320ValfsTer7) c.1185_1186del (p.Gln396ValfsTer7) c.1092_1093del (p.Gln365ValfsTer7) | |
| X | g.19359530C>A | CA515486426 | PDHA1 | c.1071C>A (p.Ala357=) c.*742C>A (n.*742C>A) c.1134C>A (p.Ala378=) c.1164C>A (p.Ala388=) n.845C>A c.*382C>A (n.*382C>A) c.*505C>A (n.*505C>A) c.1050C>A (p.Ala350=) c.207C>A (p.Ala69=) n.489C>A c.957C>A (p.Ala319=) c.1185C>A (p.Ala395=) c.1092C>A (p.Ala364=) | |
| X | g.19359530C>G | CA515486424 | PDHA1 | c.1071C>G (p.Ala357=) c.*742C>G (n.*742C>G) c.1134C>G (p.Ala378=) c.1164C>G (p.Ala388=) n.845C>G c.*382C>G (n.*382C>G) c.*505C>G (n.*505C>G) c.1050C>G (p.Ala350=) c.207C>G (p.Ala69=) n.489C>G c.957C>G (p.Ala319=) c.1185C>G (p.Ala395=) c.1092C>G (p.Ala364=) | |
| X | g.19359530C>T | CA515486425 | PDHA1 | c.1071C>T (p.Ala357=) c.*742C>T (n.*742C>T) c.1134C>T (p.Ala378=) c.1164C>T (p.Ala388=) n.845C>T c.*382C>T (n.*382C>T) c.*505C>T (n.*505C>T) c.1050C>T (p.Ala350=) c.207C>T (p.Ala69=) n.489C>T c.957C>T (p.Ala319=) c.1185C>T (p.Ala395=) c.1092C>T (p.Ala364=) | 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.19359531C>A | CA412396542 | PDHA1 | c.1072C>A (p.Gln358Lys) c.*743C>A (n.*743C>A) c.1135C>A (p.Gln379Lys) c.1165C>A (p.Gln389Lys) n.846C>A c.*383C>A (n.*383C>A) c.*506C>A (n.*506C>A) c.1051C>A (p.Gln351Lys) c.208C>A (p.Gln70Lys) n.490C>A c.958C>A (p.Gln320Lys) c.1186C>A (p.Gln396Lys) c.1093C>A (p.Gln365Lys) | |
| X | g.19359531C>G | CA412396543 | PDHA1 | c.1072C>G (p.Gln358Glu) c.*743C>G (n.*743C>G) c.1135C>G (p.Gln379Glu) c.1165C>G (p.Gln389Glu) n.846C>G c.*383C>G (n.*383C>G) c.*506C>G (n.*506C>G) c.1051C>G (p.Gln351Glu) c.208C>G (p.Gln70Glu) n.490C>G c.958C>G (p.Gln320Glu) c.1186C>G (p.Gln396Glu) c.1093C>G (p.Gln365Glu) | |
| X | g.19359531C>T | CA412396544 | PDHA1 | c.1072C>T (p.Gln358Ter) c.*743C>T (n.*743C>T) c.1135C>T (p.Gln379Ter) c.1165C>T (p.Gln389Ter) n.846C>T c.*383C>T (n.*383C>T) c.*506C>T (n.*506C>T) c.1051C>T (p.Gln351Ter) c.208C>T (p.Gln70Ter) n.490C>T c.958C>T (p.Gln320Ter) c.1186C>T (p.Gln396Ter) c.1093C>T (p.Gln365Ter) | |
| X | g.19359532A>C | CA412396550 | PDHA1 | c.1073A>C (p.Gln358Pro) c.*744A>C (n.*744A>C) c.1136A>C (p.Gln379Pro) c.1166A>C (p.Gln389Pro) n.847A>C c.*384A>C (n.*384A>C) c.*507A>C (n.*507A>C) c.1052A>C (p.Gln351Pro) c.209A>C (p.Gln70Pro) n.491A>C c.959A>C (p.Gln320Pro) c.1187A>C (p.Gln396Pro) c.1094A>C (p.Gln365Pro) | |
| X | g.19359532A>G | CA412396549 | PDHA1 | c.1073A>G (p.Gln358Arg) c.*744A>G (n.*744A>G) c.1136A>G (p.Gln379Arg) c.1166A>G (p.Gln389Arg) n.847A>G c.*384A>G (n.*384A>G) c.*507A>G (n.*507A>G) c.1052A>G (p.Gln351Arg) c.209A>G (p.Gln70Arg) n.491A>G c.959A>G (p.Gln320Arg) c.1187A>G (p.Gln396Arg) c.1094A>G (p.Gln365Arg) | gnomAD v4 |
| X | g.19359532A>T | CA412396547 | PDHA1 | c.1073A>T (p.Gln358Leu) c.*744A>T (n.*744A>T) c.1136A>T (p.Gln379Leu) c.1166A>T (p.Gln389Leu) n.847A>T c.*384A>T (n.*384A>T) c.*507A>T (n.*507A>T) c.1052A>T (p.Gln351Leu) c.209A>T (p.Gln70Leu) n.491A>T c.959A>T (p.Gln320Leu) c.1187A>T (p.Gln396Leu) c.1094A>T (p.Gln365Leu) | |
| X | g.19359533G>A | CA515486427 | PDHA1 | c.1074G>A (p.Gln358=) c.*745G>A (n.*745G>A) c.1137G>A (p.Gln379=) c.1167G>A (p.Gln389=) n.848G>A c.*385G>A (n.*385G>A) c.*508G>A (n.*508G>A) c.1053G>A (p.Gln351=) c.210G>A (p.Gln70=) n.492G>A c.960G>A (p.Gln320=) c.1188G>A (p.Gln396=) c.1095G>A (p.Gln365=) | gnomAD v4 |
| X | g.19359533G>C | CA412396553 | PDHA1 | c.1074G>C (p.Gln358His) c.*745G>C (n.*745G>C) c.1137G>C (p.Gln379His) c.1167G>C (p.Gln389His) n.848G>C c.*385G>C (n.*385G>C) c.*508G>C (n.*508G>C) c.1053G>C (p.Gln351His) c.210G>C (p.Gln70His) n.492G>C c.960G>C (p.Gln320His) c.1188G>C (p.Gln396His) c.1095G>C (p.Gln365His) | |
| X | g.19359533G>T | CA412396555 | PDHA1 | c.1074G>T (p.Gln358His) c.*745G>T (n.*745G>T) c.1137G>T (p.Gln379His) c.1167G>T (p.Gln389His) n.848G>T c.*385G>T (n.*385G>T) c.*508G>T (n.*508G>T) c.1053G>T (p.Gln351His) c.210G>T (p.Gln70His) n.492G>T c.960G>T (p.Gln320His) c.1188G>T (p.Gln396His) c.1095G>T (p.Gln365His) | gnomAD v4 |
| X | g.19359534T>A | CA412396558 | PDHA1 | c.1075T>A (p.Phe359Ile) c.*746T>A (n.*746T>A) c.1138T>A (p.Phe380Ile) c.1168T>A (p.Phe390Ile) n.849T>A c.*386T>A (n.*386T>A) c.*509T>A (n.*509T>A) c.1054T>A (p.Phe352Ile) c.211T>A (p.Phe71Ile) n.493T>A c.961T>A (p.Phe321Ile) c.1189T>A (p.Phe397Ile) c.1096T>A (p.Phe366Ile) | |
| X | g.19359534T>C | CA412396559 | PDHA1 | c.1075T>C (p.Phe359Leu) c.*746T>C (n.*746T>C) c.1138T>C (p.Phe380Leu) c.1168T>C (p.Phe390Leu) n.849T>C c.*386T>C (n.*386T>C) c.*509T>C (n.*509T>C) c.1054T>C (p.Phe352Leu) c.211T>C (p.Phe71Leu) n.493T>C c.961T>C (p.Phe321Leu) c.1189T>C (p.Phe397Leu) c.1096T>C (p.Phe366Leu) | |
| X | g.19359534T>G | CA412396561 | PDHA1 | c.1075T>G (p.Phe359Val) c.*746T>G (n.*746T>G) c.1138T>G (p.Phe380Val) c.1168T>G (p.Phe390Val) n.849T>G c.*386T>G (n.*386T>G) c.*509T>G (n.*509T>G) c.1054T>G (p.Phe352Val) c.211T>G (p.Phe71Val) n.493T>G c.961T>G (p.Phe321Val) c.1189T>G (p.Phe397Val) c.1096T>G (p.Phe366Val) | |
| X | g.19359536del | CA2579566471 | PDHA1 | c.1077del (p.Phe359LeufsTer?) c.*748del (n.*748del) c.1140del (p.Phe380LeufsTer?) c.1170del (p.Phe390LeufsTer?) n.851del c.*388del (n.*388del) c.*511del (n.*511del) c.1056del (p.Phe352LeufsTer?) c.213del (p.Phe71LeufsTer?) n.495del c.963del (p.Phe321LeufsTer?) c.1191del (p.Phe397LeufsTer?) c.1098del (p.Phe366LeufsTer?) | |
| X | g.19359535T>A | CA412396563 | PDHA1 | c.1076T>A (p.Phe359Tyr) c.*747T>A (n.*747T>A) c.1139T>A (p.Phe380Tyr) c.1169T>A (p.Phe390Tyr) n.850T>A c.*387T>A (n.*387T>A) c.*510T>A (n.*510T>A) c.1055T>A (p.Phe352Tyr) c.212T>A (p.Phe71Tyr) n.494T>A c.962T>A (p.Phe321Tyr) c.1190T>A (p.Phe397Tyr) c.1097T>A (p.Phe366Tyr) | |
| X | g.19359535T>C | CA412396565 | PDHA1 | c.1076T>C (p.Phe359Ser) c.*747T>C (n.*747T>C) c.1139T>C (p.Phe380Ser) c.1169T>C (p.Phe390Ser) n.850T>C c.*387T>C (n.*387T>C) c.*510T>C (n.*510T>C) c.1055T>C (p.Phe352Ser) c.212T>C (p.Phe71Ser) n.494T>C c.962T>C (p.Phe321Ser) c.1190T>C (p.Phe397Ser) c.1097T>C (p.Phe366Ser) | |
| X | g.19359535T>G | CA412396567 | PDHA1 | c.1076T>G (p.Phe359Cys) c.*747T>G (n.*747T>G) c.1139T>G (p.Phe380Cys) c.1169T>G (p.Phe390Cys) n.850T>G c.*387T>G (n.*387T>G) c.*510T>G (n.*510T>G) c.1055T>G (p.Phe352Cys) c.212T>G (p.Phe71Cys) n.494T>G c.962T>G (p.Phe321Cys) c.1190T>G (p.Phe397Cys) c.1097T>G (p.Phe366Cys) | |
| X | g.19359536T>A | CA412396569 | PDHA1 | c.1077T>A (p.Phe359Leu) c.*748T>A (n.*748T>A) c.1140T>A (p.Phe380Leu) c.1170T>A (p.Phe390Leu) n.851T>A c.*388T>A (n.*388T>A) c.*511T>A (n.*511T>A) c.1056T>A (p.Phe352Leu) c.213T>A (p.Phe71Leu) n.495T>A c.963T>A (p.Phe321Leu) c.1191T>A (p.Phe397Leu) c.1098T>A (p.Phe366Leu) | |
| X | g.19359536T>C | CA515486428 | PDHA1 | c.1077T>C (p.Phe359=) c.*748T>C (n.*748T>C) c.1140T>C (p.Phe380=) c.1170T>C (p.Phe390=) n.851T>C c.*388T>C (n.*388T>C) c.*511T>C (n.*511T>C) c.1056T>C (p.Phe352=) c.213T>C (p.Phe71=) n.495T>C c.963T>C (p.Phe321=) c.1191T>C (p.Phe397=) c.1098T>C (p.Phe366=) | |
| X | g.19359536T>G | CA412396571 | PDHA1 | c.1077T>G (p.Phe359Leu) c.*748T>G (n.*748T>G) c.1140T>G (p.Phe380Leu) c.1170T>G (p.Phe390Leu) n.851T>G c.*388T>G (n.*388T>G) c.*511T>G (n.*511T>G) c.1056T>G (p.Phe352Leu) c.213T>G (p.Phe71Leu) n.495T>G c.963T>G (p.Phe321Leu) c.1191T>G (p.Phe397Leu) c.1098T>G (p.Phe366Leu) | |
| 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) |