Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_017517 | Disease | p.ARG228CYS | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017527 | Disease | p.ARG423HIS | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017522 | Disease | p.ASN386SER | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002252 | Disease | p.ASP245ASN | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002251 | Disease | p.CYS226TRP | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002250 | Disease | p.CYS214TYR | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017518 | Disease | p.CYS237TYR | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017516 | Disease | p.GLY185ALA | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017523 | Disease | p.GLY406ARG | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002256 | Disease | p.GLY412ARG | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017524 | Disease | p.HIS411TYR | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017510 | Disease | p.ILE45PHE | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002249 | Disease | p.LEU106ARG | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017519 | Disease | p.LYS266ASN | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017528 | Disease | p.LYS447GLU | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017521 | Disease | p.MET328ILE | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017526 | Disease | p.PHE419SER | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017512 | Disease | p.PRO114LEU | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017513 | Disease | p.PRO121LEU | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002254 | Disease | p.PRO315SER | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017525 | Disease | p.SER415ASN | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_002255 | Disease | p.SER365LEU | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017515 | Disease | p.THR184ARG | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017514 | Disease | p.THR184MET | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017520 | Disease | p.TYR279ASN | Sjoegren-Larsson syndrome (SLS) |
Swiss-Prot | VAR_017511 | Disease | p.VAL64ASP | Sjoegren-Larsson syndrome (SLS) |
OMIM | 609523.0009 | Disease | p.ASN386SER | SJOGREN-LARSSON SYNDROME |
OMIM | 609523.0004 | Disease | p.CYS214TYR | SJOGREN-LARSSON SYNDROME |
OMIM | 609523.0008 | Disease | p.LYS266ASN | SJOGREN-LARSSON SYNDROME |
OMIM | 609523.0005 | Disease | p.PRO315SER | SJOGREN-LARSSON SYNDROME |