Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_026481 | Disease | p.ALA21VAL | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_026480 | Disease | p.ARG15CYS | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013713 | Disease | p.ARG15LEU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013723 | Disease | p.CYS311TYR | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013722 | Polymorphism | p.GLY305SER | N/A |
Swiss-Prot | VAR_014422 | Disease | p.GLY228TRP | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013720 | Disease | p.LEU93ARG | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_005004 | Disease | p.LEU28PRO | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013715 | Disease | p.LEU29PRO | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_005005 | Disease | p.LYS83GLU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_026483 | Disease | p.PHE77SER | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013724 | Disease | p.PRO326GLN | Autoimmune polyendocrine syndrome 1 (APS1) |
dbSNP | rs34397615 | Polymorphism | p.PRO252LEU | N/A |
Swiss-Prot | VAR_026484 | Disease | p.PRO252LEU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_026485 | Disease | p.PRO326LEU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_026486 | Disease | p.PRO539LEU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_005006 | Polymorphism | p.SER278ARG | N/A |
Swiss-Prot | VAR_013714 | Disease | p.THR16MET | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013716 | Disease | p.TRP78ARG | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013718 | Disease | p.TYR85CYS | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013719 | Disease | p.TYR90CYS | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013717 | Disease | p.VAL80LEU | Autoimmune polyendocrine syndrome 1 (APS1) |
Swiss-Prot | VAR_013721 | Disease | p.VAL301MET | Autoimmune polyendocrine syndrome 1 (APS1) |
OMIM | 607358.0004 | Disease | p.ARG139TER | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I |
OMIM | 607358.0001 | Disease | p.ARG257TER | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I |
OMIM | 607358.0007 | Disease | p.GLY228TRP | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT |
OMIM | 607358.0002 | Disease | p.LYS83GLU | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I |
OMIM | 607358.0008 | Disease | p.MET1LEU | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I |
OMIM | 607358.0011 | Disease | p.VAL80GLY | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I |