Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_069381 | Polymorphism | p.ALA136THR | N/A |
Swiss-Prot | VAR_004953 | Disease | p.ALA199THR | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004962 | Disease | p.ARG302CYS | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004949 | Disease | p.ARG72CYS | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004960 | Disease | p.ARG263GLN | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004959 | Disease | p.ARG263GLY | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_021055 | Disease | p.ARG288HIS | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004963 | Disease | p.ARG302HIS | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004966 | Disease | p.ARG378HIS | Leigh syndrome, X-linked (X-LS) |
Swiss-Prot | VAR_010238 | Disease | p.ARG10PRO | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004958 | Disease | p.ASP258ALA | Leigh syndrome, X-linked (X-LS) |
Swiss-Prot | VAR_021056 | Disease | p.ASP315ASN | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_050436 | Polymorphism | p.GLU333ASP | N/A |
Swiss-Prot | VAR_004951 | Disease | p.GLY162ARG | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004950 | Disease | p.HIS113ASP | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004961 | Disease | p.HIS292LEU | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
dbSNP | rs2229137 | Polymorphism | p.MET282LEU | N/A |
Swiss-Prot | VAR_004955 | Disease | p.MET210VAL | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004954 | Disease | p.PHE205LEU | Leigh syndrome, X-linked (X-LS) |
Swiss-Prot | VAR_004956 | Disease | p.PRO217LEU | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004957 | Disease | p.THR231ALA | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_021053 | Disease | p.TYR243ASN | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
Swiss-Prot | VAR_004952 | Disease | p.VAL167MET | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) |
OMIM | 300502.0009 | Disease | p.ARG264CYS | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0008 | Disease | p.ARG196GLY | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0022 | Disease | p.ARG225GLY | LEIGH SYNDROME, X-LINKED |
OMIM | 300502.0020 | Disease | p.ARG250HIS | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0003 | Disease | p.ARG340HIS | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0017 | Disease | p.ARG10PRO | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0011 | Disease | p.ASP220ALA | LEIGH SYNDROME, X-LINKED |
OMIM | 300502.0014 | Disease | p.ASP277ASN | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0023 | Disease | p.LEU178PHE | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0015 | Disease | p.MET244LEU | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0012 | Disease | p.PHE167LEU | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
OMIM | 300502.0013 | Disease | p.TYR205ASN | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |