Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_038370 | Polymorphism | p.ALA22GLY | N/A |
Swiss-Prot | VAR_021370 | Disease | p.ALA468PRO | Schimke immuno-osseous dysplasia (SIOD) |
dbSNP | rs2066524 | Polymorphism | p.ALA43THR | N/A |
Swiss-Prot | VAR_021375 | Disease | p.ARG645CYS | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021381 | Disease | p.ARG764GLN | Schimke immuno-osseous dysplasia (SIOD) |
dbSNP | rs11555797 | Polymorphism | p.ARG114HIS | N/A |
Swiss-Prot | VAR_021382 | Disease | p.ARG820HIS | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021373 | Disease | p.ARG586TRP | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021374 | Disease | p.ARG644TRP | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021378 | Polymorphism | p.ASP649ASN | N/A |
Swiss-Prot | VAR_021369 | Polymorphism | p.ASP424VAL | N/A |
dbSNP | rs2066518 | Polymorphism | p.GLU377GLN | N/A |
Swiss-Prot | VAR_021371 | Disease | p.ILE548ASN | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021366 | Polymorphism | p.ILE207PHE | N/A |
Swiss-Prot | VAR_036026 | Polymorphism | p.LEU432VAL | N/A |
Swiss-Prot | VAR_021376 | Disease | p.LYS647GLN | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021377 | Disease | p.LYS647THR | Schimke immuno-osseous dysplasia (SIOD) |
dbSNP | rs2066522 | Polymorphism | p.SER315ARG | N/A |
Swiss-Prot | VAR_021372 | Disease | p.SER579LEU | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021379 | Disease | p.THR705ILE | Schimke immuno-osseous dysplasia (SIOD) |
Swiss-Prot | VAR_021380 | Polymorphism | p.THR742MET | N/A |
Swiss-Prot | VAR_021365 | Polymorphism | p.TYR206ASP | N/A |
OMIM | 606622.0005 | Disease | p.ARG645CYS | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0008 | Disease | p.ARG764GLN | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0002 | Disease | p.ARG17TER | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0006 | Disease | p.ARG586TRP | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0003 | Disease | p.GLN34TER | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0001 | Disease | p.GLU848TER | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
OMIM | 606622.0004 | Disease | p.ILE548ASN | SCHIMKE IMMUNOOSSEOUS DYSPLASIA |