Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_000341 | Disease | p.ALA281ASP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010101 | Disease | p.ALA213PRO | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010104 | Disease | p.ALA490PRO | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_011990 | Polymorphism | p.ALA359SER | N/A |
Swiss-Prot | VAR_000349 | Disease | p.ARG366CYS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000356 | Disease | p.ARG453GLN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000361 | Disease | p.ARG469GLN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010106 | Disease | p.ARG615GLN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000350 | Disease | p.ARG366HIS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000355 | Disease | p.ARG450HIS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000358 | Disease | p.ARG456HIS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000359 | Disease | p.ARG459TRP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000362 | Disease | p.ARG469TRP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000365 | Disease | p.ARG613TRP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000357 | Disease | p.ASP454ASN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000353 | Disease | p.ASP405HIS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000333 | Disease | p.GLN159ARG | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000336 | Disease | p.GLU218LYS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010105 | Disease | p.GLU534LYS | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000343 | Disease | p.GLY290ASP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
dbSNP | rs2230178 | Polymorphism | p.GLY43ASP | N/A |
Swiss-Prot | VAR_000354 | Disease | p.GLY441ASP | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000344 | Disease | p.GLY294GLU | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000360 | Disease | p.GLY463GLU | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000335 | Disease | p.GLY185SER | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000337 | Disease | p.LEU243ARG | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000364 | Disease | p.LEU602ILE | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
dbSNP | rs2230179 | Polymorphism | p.LEU17PHE | N/A |
Swiss-Prot | VAR_000363 | Disease | p.LEU502PRO | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000345 | Disease | p.LYS299ASN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000352 | Disease | p.LYS382GLN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010102 | Disease | p.LYS247GLU | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000338 | Disease | p.LYS247THR | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000348 | Disease | p.MET352VAL | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_010103 | Disease | p.PHE458LEU | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
dbSNP | rs28934585 | Polymorphism | p.PRO65LEU | N/A |
Swiss-Prot | VAR_011991 | Polymorphism | p.SER623PHE | N/A |
Swiss-Prot | VAR_000332 | Disease | p.THR158ASN | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000339 | Disease | p.THR260MET | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000342 | Disease | p.VAL283ALA | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000347 | Disease | p.VAL317ALA | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
Swiss-Prot | VAR_000334 | Disease | p.VAL174MET | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) |
OMIM | 609575.0013 | Disease | p.ALA393THR | VLCAD DEFICIENCY |
OMIM | 609575.0010 | Disease | p.ARG387HIS | VLCAD DEFICIENCY |
OMIM | 609575.0014 | Disease | p.ARG427HIS | VLCAD DEFICIENCY |
OMIM | 609575.0003 | Disease | p.ARG590TRP | VLCAD DEFICIENCY |
OMIM | 609575.0009 | Disease | p.GLY378ASP | VLCAD DEFICIENCY |
OMIM | 609575.0011 | Disease | p.LYS224GLN | VLCAD DEFICIENCY |
OMIM | 609575.0008 | Disease | p.LYS359GLN | VLCAD DEFICIENCY |
OMIM | 609575.0012 | Disease | p.PHE435LEU | VLCAD DEFICIENCY |
OMIM | 609575.0011 | Disease | p.PRO42LEU | VLCAD DEFICIENCY |