Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_064430 | Polymorphism | p.ALA21PRO | N/A |
Swiss-Prot | VAR_003404 | Disease | p.ALA592SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003388 | Disease | p.ALA263THR | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003406 | Polymorphism | p.ALA641THR | N/A |
Swiss-Prot | VAR_013960 | Polymorphism | p.ARG184CYS | N/A |
Swiss-Prot | VAR_003399 | Disease | p.ARG531CYS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013966 | Disease | p.ARG531HIS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013958 | Disease | p.ARG79HIS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064436 | Disease | p.ARG396LEU | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003394 | Disease | p.ARG396TRP | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003391 | Disease | p.ASN295THR | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003386 | Polymorphism | p.ASP248ASN | N/A |
Swiss-Prot | VAR_003400 | Disease | p.ASP544ASN | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003384 | Disease | p.ASP187VAL | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064432 | Disease | p.GLU130LYS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003385 | Disease | p.GLY194ALA | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064434 | Disease | p.GLY323ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013967 | Disease | p.GLY553ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013956 | Disease | p.GLY59ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003380 | Disease | p.GLY111ASP | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003390 | Disease | p.GLY286ASP | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003381 | Disease | p.GLY111SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003389 | Disease | p.GLY284SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064431 | Disease | p.GLY41SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013959 | Disease | p.ILE82MET | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003405 | Disease | p.ILE599SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003387 | Disease | p.ILE250THR | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064435 | Disease | p.ILE384THR | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003401 | Polymorphism | p.ILE562THR | N/A |
Swiss-Prot | VAR_013962 | Polymorphism | p.ILE305VAL | N/A |
Swiss-Prot | VAR_003407 | Disease | p.LEU645ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013968 | Disease | p.LEU634SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003383 | Disease | p.MET117LEU | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003397 | Disease | p.PHE514SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003393 | Disease | p.PRO318ALA | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064433 | Disease | p.PRO318ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003395 | Disease | p.PRO400LEU | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003392 | Disease | p.SER303PHE | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013957 | Disease | p.SER68PHE | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003382 | Disease | p.THR112ALA | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013969 | Disease | p.THR668ARG | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013961 | Disease | p.THR278ILE | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003398 | Disease | p.THR529MET | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003396 | Disease | p.THR468SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013965 | Disease | p.TRP426GLY | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_064437 | Disease | p.TYR490ASN | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013963 | Disease | p.TYR314CYS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_013964 | Disease | p.TYR335CYS | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003403 | Disease | p.TYR567SER | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_003402 | Disease | p.VAL566GLY | Leukodystrophy, globoid cell (GLD) |
Swiss-Prot | VAR_069512 | Disease | p.VAL681MET | Leukodystrophy, globoid cell (GLD) |