| 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.19359511_19359523del | CA2695195968 | PDHA1 | c.1052_1064del (p.Lys351MetfsTer?) c.*723_*735del (n.*723_*735del) c.1115_1127del (p.Lys372MetfsTer?) c.1145_1157del (p.Lys382MetfsTer?) n.826_838del c.*363_*375del (n.*363_*375del) c.*486_*498del (n.*486_*498del) c.1031_1043del (p.Lys344MetfsTer?) c.188_200del (p.Lys63MetfsTer?) n.470_482del c.938_950del (p.Lys313MetfsTer?) c.1166_1178del (p.Lys389MetfsTer?) c.1073_1085del (p.Lys358MetfsTer?) | |
| 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.19359520A>C | CA412396494 | PDHA1 | c.1061A>C (p.Glu354Ala) c.*732A>C (n.*732A>C) c.1124A>C (p.Glu375Ala) c.1154A>C (p.Glu385Ala) n.835A>C c.*372A>C (n.*372A>C) c.*495A>C (n.*495A>C) c.1040A>C (p.Glu347Ala) c.197A>C (p.Glu66Ala) n.479A>C c.947A>C (p.Glu316Ala) c.1175A>C (p.Glu392Ala) c.1082A>C (p.Glu361Ala) | |
| X | g.19359520A>G | CA412396496 | PDHA1 | c.1061A>G (p.Glu354Gly) c.*732A>G (n.*732A>G) c.1124A>G (p.Glu375Gly) c.1154A>G (p.Glu385Gly) n.835A>G c.*372A>G (n.*372A>G) c.*495A>G (n.*495A>G) c.1040A>G (p.Glu347Gly) c.197A>G (p.Glu66Gly) n.479A>G c.947A>G (p.Glu316Gly) c.1175A>G (p.Glu392Gly) c.1082A>G (p.Glu361Gly) | |
| X | g.19359520A>T | CA412396497 | PDHA1 | c.1061A>T (p.Glu354Val) c.*732A>T (n.*732A>T) c.1124A>T (p.Glu375Val) c.1154A>T (p.Glu385Val) n.835A>T c.*372A>T (n.*372A>T) c.*495A>T (n.*495A>T) c.1040A>T (p.Glu347Val) c.197A>T (p.Glu66Val) n.479A>T c.947A>T (p.Glu316Val) c.1175A>T (p.Glu392Val) c.1082A>T (p.Glu361Val) | |
| 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.19359521G>A | CA515486419 | PDHA1 | c.1062G>A (p.Glu354=) c.*733G>A (n.*733G>A) c.1125G>A (p.Glu375=) c.1155G>A (p.Glu385=) n.836G>A c.*373G>A (n.*373G>A) c.*496G>A (n.*496G>A) c.1041G>A (p.Glu347=) c.198G>A (p.Glu66=) n.480G>A c.948G>A (p.Glu316=) c.1176G>A (p.Glu392=) c.1083G>A (p.Glu361=) | |
| X | g.19359521G>C | CA412396498 | PDHA1 | c.1062G>C (p.Glu354Asp) c.*733G>C (n.*733G>C) c.1125G>C (p.Glu375Asp) c.1155G>C (p.Glu385Asp) n.836G>C c.*373G>C (n.*373G>C) c.*496G>C (n.*496G>C) c.1041G>C (p.Glu347Asp) c.198G>C (p.Glu66Asp) n.480G>C c.948G>C (p.Glu316Asp) c.1176G>C (p.Glu392Asp) c.1083G>C (p.Glu361Asp) | |
| X | g.19359521G= | CA2418225572 | PDHA1 | c.1062G= (p.Glu354=) c.*733G= (n.*733G=) c.1125G= (p.Glu375=) c.1155G= (p.Glu385=) n.836G= c.*373G= (n.*373G=) c.*496G= (n.*496G=) c.1041G= (p.Glu347=) c.198G= (p.Glu66=) n.480G= c.948G= (p.Glu316=) c.1176G= (p.Glu392=) c.1083G= (p.Glu361=) | |
| X | g.19359521G>T | CA412396500 | PDHA1 | c.1062G>T (p.Glu354Asp) c.*733G>T (n.*733G>T) c.1125G>T (p.Glu375Asp) c.1155G>T (p.Glu385Asp) n.836G>T c.*373G>T (n.*373G>T) c.*496G>T (n.*496G>T) c.1041G>T (p.Glu347Asp) c.198G>T (p.Glu66Asp) n.480G>T c.948G>T (p.Glu316Asp) c.1176G>T (p.Glu392Asp) c.1083G>T (p.Glu361Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359522G>A | CA412396502 | PDHA1 | c.1063G>A (p.Asp355Asn) c.*734G>A (n.*734G>A) c.1126G>A (p.Asp376Asn) c.1156G>A (p.Asp386Asn) n.837G>A c.*374G>A (n.*374G>A) c.*497G>A (n.*497G>A) c.1042G>A (p.Asp348Asn) c.199G>A (p.Asp67Asn) n.481G>A c.949G>A (p.Asp317Asn) c.1177G>A (p.Asp393Asn) c.1084G>A (p.Asp362Asn) | |
| X | g.19359522G>C | CA412396504 | PDHA1 | c.1063G>C (p.Asp355His) c.*734G>C (n.*734G>C) c.1126G>C (p.Asp376His) c.1156G>C (p.Asp386His) n.837G>C c.*374G>C (n.*374G>C) c.*497G>C (n.*497G>C) c.1042G>C (p.Asp348His) c.199G>C (p.Asp67His) n.481G>C c.949G>C (p.Asp317His) c.1177G>C (p.Asp393His) c.1084G>C (p.Asp362His) | |
| X | g.19359522G>T | CA412396506 | PDHA1 | c.1063G>T (p.Asp355Tyr) c.*734G>T (n.*734G>T) c.1126G>T (p.Asp376Tyr) c.1156G>T (p.Asp386Tyr) n.837G>T c.*374G>T (n.*374G>T) c.*497G>T (n.*497G>T) c.1042G>T (p.Asp348Tyr) c.199G>T (p.Asp67Tyr) n.481G>T c.949G>T (p.Asp317Tyr) c.1177G>T (p.Asp393Tyr) c.1084G>T (p.Asp362Tyr) | |
| 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.19359523A= | CA2418225573 | PDHA1 | c.1064A= (p.Asp355=) c.*735A= (n.*735A=) c.1127A= (p.Asp376=) c.1157A= (p.Asp386=) n.838A= c.*375A= (n.*375A=) c.*498A= (n.*498A=) c.1043A= (p.Asp348=) c.200A= (p.Asp67=) n.482A= c.950A= (p.Asp317=) c.1178A= (p.Asp393=) c.1085A= (p.Asp362=) | |
| X | g.19359523A>C | CA412396508 | PDHA1 | c.1064A>C (p.Asp355Ala) c.*735A>C (n.*735A>C) c.1127A>C (p.Asp376Ala) c.1157A>C (p.Asp386Ala) n.838A>C c.*375A>C (n.*375A>C) c.*498A>C (n.*498A>C) c.1043A>C (p.Asp348Ala) c.200A>C (p.Asp67Ala) n.482A>C c.950A>C (p.Asp317Ala) c.1178A>C (p.Asp393Ala) c.1085A>C (p.Asp362Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359523A>G | CA412396510 | PDHA1 | c.1064A>G (p.Asp355Gly) c.*735A>G (n.*735A>G) c.1127A>G (p.Asp376Gly) c.1157A>G (p.Asp386Gly) n.838A>G c.*375A>G (n.*375A>G) c.*498A>G (n.*498A>G) c.1043A>G (p.Asp348Gly) c.200A>G (p.Asp67Gly) n.482A>G c.950A>G (p.Asp317Gly) c.1178A>G (p.Asp393Gly) c.1085A>G (p.Asp362Gly) | |
| X | g.19359523A>T | CA412396512 | PDHA1 | c.1064A>T (p.Asp355Val) c.*735A>T (n.*735A>T) c.1127A>T (p.Asp376Val) c.1157A>T (p.Asp386Val) n.838A>T c.*375A>T (n.*375A>T) c.*498A>T (n.*498A>T) c.1043A>T (p.Asp348Val) c.200A>T (p.Asp67Val) n.482A>T c.950A>T (p.Asp317Val) c.1178A>T (p.Asp393Val) c.1085A>T (p.Asp362Val) | ClinVar gnomAD v4 |
| X | g.19359524T>A | CA412396515 | PDHA1 | c.1065T>A (p.Asp355Glu) c.*736T>A (n.*736T>A) c.1128T>A (p.Asp376Glu) c.1158T>A (p.Asp386Glu) n.839T>A c.*376T>A (n.*376T>A) c.*499T>A (n.*499T>A) c.1044T>A (p.Asp348Glu) c.201T>A (p.Asp67Glu) n.483T>A c.951T>A (p.Asp317Glu) c.1179T>A (p.Asp393Glu) c.1086T>A (p.Asp362Glu) | |
| X | g.19359524T>C | CA515486420 | PDHA1 | c.1065T>C (p.Asp355=) c.*736T>C (n.*736T>C) c.1128T>C (p.Asp376=) c.1158T>C (p.Asp386=) n.839T>C c.*376T>C (n.*376T>C) c.*499T>C (n.*499T>C) c.1044T>C (p.Asp348=) c.201T>C (p.Asp67=) n.483T>C c.951T>C (p.Asp317=) c.1179T>C (p.Asp393=) c.1086T>C (p.Asp362=) | |
| X | g.19359524T>G | CA412396516 | PDHA1 | c.1065T>G (p.Asp355Glu) c.*736T>G (n.*736T>G) c.1128T>G (p.Asp376Glu) c.1158T>G (p.Asp386Glu) n.839T>G c.*376T>G (n.*376T>G) c.*499T>G (n.*499T>G) c.1044T>G (p.Asp348Glu) c.201T>G (p.Asp67Glu) n.483T>G c.951T>G (p.Asp317Glu) c.1179T>G (p.Asp393Glu) c.1086T>G (p.Asp362Glu) | |
| 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) |