Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_017933 | Disease | p.ALA173ASP | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017936 | Disease | p.ALA208ASP | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007514 | Disease | p.ALA123GLU | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007527 | Disease | p.ALA235PRO | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017927 | Disease | p.GLN174ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017938 | Disease | p.GLY226ALA | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017929 | Disease | p.GLY116ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007523 | Polymorphism | p.GLY219ARG | N/A |
Swiss-Prot | VAR_017925 | Disease | p.GLY38ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017940 | Disease | p.GLY257ASP | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007520 | Disease | p.GLY144GLU | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017930 | Disease | p.GLY116SER | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017928 | Disease | p.GLY257SER | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007524 | Disease | p.GLY227VAL | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017926 | Disease | p.HIS125ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017937 | Disease | p.HIS224TYR | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007521 | Disease | p.LEU155PRO | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017935 | Disease | p.LEU195PRO | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007526 | Disease | p.LEU231SER | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017924 | Disease | p.LEU258SER | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017932 | Disease | p.LYS143THR | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007513 | Disease | p.MET36ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017922 | Disease | p.THR147ASN | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007522 | Disease | p.THR211ASN | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017934 | Disease | p.THR176ILE | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007528 | Disease | p.THR254MET | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007519 | Disease | p.TRP140ARG | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007517 | Disease | p.TRP140CYS | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007518 | Disease | p.TRP140GLY | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017923 | Disease | p.TYR170CYS | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_007515 | Disease | p.VAL126ALA | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017931 | Disease | p.VAL126ASP | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
Swiss-Prot | VAR_017939 | Disease | p.VAL237GLU | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) |
OMIM | 300386.0012 | Disease | p.ALA123GLU | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0001 | Disease | p.ALA235PRO | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0002 | Disease | p.GLU129GLY | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0003 | Disease | p.GLY227VAL | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0004 | Disease | p.LEU155PRO | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0006 | Disease | p.MET36ARG | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0002 | Disease | p.SER128ARG | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0005 | Disease | p.THR211ASP | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0008 | Disease | p.TRP140GLY | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
OMIM | 300386.0007 | Disease | p.TRP140TER | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |