Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_003602 | Disease | p.ALA26ASP | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003610 | Disease | p.ARG283CYS | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003612 | Disease | p.ARG330CYS | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_025047 | Polymorphism | p.ARG236GLN | N/A |
Swiss-Prot | VAR_003607 | Disease | p.ARG267TRP | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003604 | Disease | p.ASP219ALA | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003614 | Disease | p.ASP469GLU | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003605 | Disease | p.ASP219GLY | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003613 | Disease | p.GLY464VAL | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003606 | Disease | p.LEU254ARG | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003611 | Disease | p.LEU286GLN | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003603 | Disease | p.LEU188PRO | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_025048 | Polymorphism | p.LYS437GLU | N/A |
Swiss-Prot | VAR_003608 | Disease | p.TYR270CYS | Glutathione synthetase deficiency (GSS deficiency) |
Swiss-Prot | VAR_003609 | Disease | p.TYR270HIS | Glutathione synthetase deficiency (GSS deficiency) |
OMIM | 601002.0005 | Disease | p.ARG125CYS | GLUTATHIONE SYNTHETASE DEFICIENCY |
OMIM | 601002.0004 | Disease | p.ARG283CYS | GLUTATHIONE SYNTHETASE DEFICIENCY |
OMIM | 601002.0001 | Disease | p.ARG164GLN | GLUTATHIONE SYNTHETASE DEFICIENCY |
OMIM | 601002.0003 | Disease | p.ARG267TRP | GLUTATHIONE SYNTHETASE DEFICIENCY |
OMIM | 601002.0007 | Disease | p.ASP219GLY | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA||DUE TO |