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.19359520_19359528dup | CA2695231668 | PDHA1 | c.1061_1069dup (p.Ala356_Ala357insGluAspAla) c.*732_*740dup (n.*732_*740dup) c.1124_1132dup (p.Ala377_Ala378insGluAspAla) c.1154_1162dup (p.Ala387_Ala388insGluAspAla) n.835_843dup c.*372_*380dup (n.*372_*380dup) c.*495_*503dup (n.*495_*503dup) c.1040_1048dup (p.Ala349_Ala350insGluAspAla) c.197_205dup (p.Ala68_Ala69insGluAspAla) n.479_487dup c.947_955dup (p.Ala318_Ala319insGluAspAla) c.1175_1183dup (p.Ala394_Ala395insGluAspAla) c.1082_1090dup (p.Ala363_Ala364insGluAspAla) | |
| 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.19359525G>A | CA10607080 | PDHA1 | c.1066G>A (p.Ala356Thr) c.*737G>A (n.*737G>A) c.1129G>A (p.Ala377Thr) c.1159G>A (p.Ala387Thr) n.840G>A c.*377G>A (n.*377G>A) c.*500G>A (n.*500G>A) c.1045G>A (p.Ala349Thr) c.202G>A (p.Ala68Thr) n.484G>A c.952G>A (p.Ala318Thr) c.1180G>A (p.Ala394Thr) c.1087G>A (p.Ala363Thr) | ClinVar dbSNP |
| X | g.19359525G>C | CA412396521 | PDHA1 | c.1066G>C (p.Ala356Pro) c.*737G>C (n.*737G>C) c.1129G>C (p.Ala377Pro) c.1159G>C (p.Ala387Pro) n.840G>C c.*377G>C (n.*377G>C) c.*500G>C (n.*500G>C) c.1045G>C (p.Ala349Pro) c.202G>C (p.Ala68Pro) n.484G>C c.952G>C (p.Ala318Pro) c.1180G>C (p.Ala394Pro) c.1087G>C (p.Ala363Pro) | |
| X | g.19359525G= | CA2418225574 | PDHA1 | c.1066G= (p.Ala356=) c.*737G= (n.*737G=) c.1129G= (p.Ala377=) c.1159G= (p.Ala387=) n.840G= c.*377G= (n.*377G=) c.*500G= (n.*500G=) c.1045G= (p.Ala349=) c.202G= (p.Ala68=) n.484G= c.952G= (p.Ala318=) c.1180G= (p.Ala394=) c.1087G= (p.Ala363=) | |
| X | g.19359525G>T | CA412396519 | PDHA1 | c.1066G>T (p.Ala356Ser) c.*737G>T (n.*737G>T) c.1129G>T (p.Ala377Ser) c.1159G>T (p.Ala387Ser) n.840G>T c.*377G>T (n.*377G>T) c.*500G>T (n.*500G>T) c.1045G>T (p.Ala349Ser) c.202G>T (p.Ala68Ser) n.484G>T c.952G>T (p.Ala318Ser) c.1180G>T (p.Ala394Ser) c.1087G>T (p.Ala363Ser) | |
| X | g.19359526C>A | CA412396527 | PDHA1 | c.1067C>A (p.Ala356Asp) c.*738C>A (n.*738C>A) c.1130C>A (p.Ala377Asp) c.1160C>A (p.Ala387Asp) n.841C>A c.*378C>A (n.*378C>A) c.*501C>A (n.*501C>A) c.1046C>A (p.Ala349Asp) c.203C>A (p.Ala68Asp) n.485C>A c.953C>A (p.Ala318Asp) c.1181C>A (p.Ala394Asp) c.1088C>A (p.Ala363Asp) | |
| X | g.19359526C= | CA2418225575 | PDHA1 | c.1067C= (p.Ala356=) c.*738C= (n.*738C=) c.1130C= (p.Ala377=) c.1160C= (p.Ala387=) n.841C= c.*378C= (n.*378C=) c.*501C= (n.*501C=) c.1046C= (p.Ala349=) c.203C= (p.Ala68=) n.485C= c.953C= (p.Ala318=) c.1181C= (p.Ala394=) c.1088C= (p.Ala363=) | |
| X | g.19359526C>G | CA412396524 | PDHA1 | c.1067C>G (p.Ala356Gly) c.*738C>G (n.*738C>G) c.1130C>G (p.Ala377Gly) c.1160C>G (p.Ala387Gly) n.841C>G c.*378C>G (n.*378C>G) c.*501C>G (n.*501C>G) c.1046C>G (p.Ala349Gly) c.203C>G (p.Ala68Gly) n.485C>G c.953C>G (p.Ala318Gly) c.1181C>G (p.Ala394Gly) c.1088C>G (p.Ala363Gly) | |
| X | g.19359526C>T | CA412396526 | PDHA1 | c.1067C>T (p.Ala356Val) c.*738C>T (n.*738C>T) c.1130C>T (p.Ala377Val) c.1160C>T (p.Ala387Val) n.841C>T c.*378C>T (n.*378C>T) c.*501C>T (n.*501C>T) c.1046C>T (p.Ala349Val) c.203C>T (p.Ala68Val) n.485C>T c.953C>T (p.Ala318Val) c.1181C>T (p.Ala394Val) c.1088C>T (p.Ala363Val) | ClinVar dbSNP |
| X | g.19359527T>A | CA515486421 | PDHA1 | c.1068T>A (p.Ala356=) c.*739T>A (n.*739T>A) c.1131T>A (p.Ala377=) c.1161T>A (p.Ala387=) n.842T>A c.*379T>A (n.*379T>A) c.*502T>A (n.*502T>A) c.1047T>A (p.Ala349=) c.204T>A (p.Ala68=) n.486T>A c.954T>A (p.Ala318=) c.1182T>A (p.Ala394=) c.1089T>A (p.Ala363=) | |
| X | g.19359527T>C | CA515486422 | PDHA1 | c.1068T>C (p.Ala356=) c.*739T>C (n.*739T>C) c.1131T>C (p.Ala377=) c.1161T>C (p.Ala387=) n.842T>C c.*379T>C (n.*379T>C) c.*502T>C (n.*502T>C) c.1047T>C (p.Ala349=) c.204T>C (p.Ala68=) n.486T>C c.954T>C (p.Ala318=) c.1182T>C (p.Ala394=) c.1089T>C (p.Ala363=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359527T>G | CA515486423 | PDHA1 | c.1068T>G (p.Ala356=) c.*739T>G (n.*739T>G) c.1131T>G (p.Ala377=) c.1161T>G (p.Ala387=) n.842T>G c.*379T>G (n.*379T>G) c.*502T>G (n.*502T>G) c.1047T>G (p.Ala349=) c.204T>G (p.Ala68=) n.486T>G c.954T>G (p.Ala318=) c.1182T>G (p.Ala394=) c.1089T>G (p.Ala363=) | |
| X | g.19359527T= | CA2418225576 | PDHA1 | c.1068T= (p.Ala356=) c.*739T= (n.*739T=) c.1131T= (p.Ala377=) c.1161T= (p.Ala387=) n.842T= c.*379T= (n.*379T=) c.*502T= (n.*502T=) c.1047T= (p.Ala349=) c.204T= (p.Ala68=) n.486T= c.954T= (p.Ala318=) c.1182T= (p.Ala394=) c.1089T= (p.Ala363=) | |
| X | g.19359528del | CA2579566469 | PDHA1 | c.1069del (p.Ala357ProfsTer?) c.*740del (n.*740del) c.1132del (p.Ala378ProfsTer?) c.1162del (p.Ala388ProfsTer?) n.843del c.*380del (n.*380del) c.*503del (n.*503del) c.1048del (p.Ala350ProfsTer?) c.205del (p.Ala69ProfsTer?) n.487del c.955del (p.Ala319ProfsTer?) c.1183del (p.Ala395ProfsTer?) c.1090del (p.Ala364ProfsTer?) | |
| X | g.19359528G>A | CA412396530 | PDHA1 | c.1069G>A (p.Ala357Thr) c.*740G>A (n.*740G>A) c.1132G>A (p.Ala378Thr) c.1162G>A (p.Ala388Thr) n.843G>A c.*380G>A (n.*380G>A) c.*503G>A (n.*503G>A) c.1048G>A (p.Ala350Thr) c.205G>A (p.Ala69Thr) n.487G>A c.955G>A (p.Ala319Thr) c.1183G>A (p.Ala395Thr) c.1090G>A (p.Ala364Thr) | |
| X | g.19359528G>C | CA412396531 | PDHA1 | c.1069G>C (p.Ala357Pro) c.*740G>C (n.*740G>C) c.1132G>C (p.Ala378Pro) c.1162G>C (p.Ala388Pro) n.843G>C c.*380G>C (n.*380G>C) c.*503G>C (n.*503G>C) c.1048G>C (p.Ala350Pro) c.205G>C (p.Ala69Pro) n.487G>C c.955G>C (p.Ala319Pro) c.1183G>C (p.Ala395Pro) c.1090G>C (p.Ala364Pro) | |
| X | g.19359528G>T | CA412396532 | PDHA1 | c.1069G>T (p.Ala357Ser) c.*740G>T (n.*740G>T) c.1132G>T (p.Ala378Ser) c.1162G>T (p.Ala388Ser) n.843G>T c.*380G>T (n.*380G>T) c.*503G>T (n.*503G>T) c.1048G>T (p.Ala350Ser) c.205G>T (p.Ala69Ser) n.487G>T c.955G>T (p.Ala319Ser) c.1183G>T (p.Ala395Ser) c.1090G>T (p.Ala364Ser) | |
| 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) |