Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_021617 | Disease | p.ALA69THR | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003682 | Disease | p.ALA104VAL | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003678 | Disease | p.ALA66VAL | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003679 | Disease | p.CYS73ARG | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_013558 | Disease | p.GLY188ARG | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003684 | Disease | p.GLY225SER | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_021619 | Disease | p.GLY188TRP | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_021621 | Disease | p.ILE219SER | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_021618 | Disease | p.ILE129THR | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003674 | Disease | p.LEU4PHE | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_067318 | Disease | p.LEU237PRO | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_049345 | Polymorphism | p.LYS124ARG | N/A |
Swiss-Prot | VAR_066247 | Disease | p.PRO248GLN | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003676 | Disease | p.PRO53LEU | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003683 | Disease | p.SER212PRO | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_021616 | Disease | p.SER47PRO | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003677 | Disease | p.THR62ALA | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003685 | Disease | p.THR228MET | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003675 | Disease | p.TYR19CYS | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003681 | Disease | p.VAL99ALA | Congenital erythropoietic porphyria (CEP) |
dbSNP | rs17173752 | Polymorphism | p.VAL171GLY | N/A |
Swiss-Prot | VAR_021615 | Disease | p.VAL3PHE | Congenital erythropoietic porphyria (CEP) |
Swiss-Prot | VAR_003680 | Disease | p.VAL82PHE | Congenital erythropoietic porphyria (CEP) |
OMIM | 606938.0003 | Disease | p.ALA66VAL | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0001 | Disease | p.CYS73ARG | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0011 | Disease | p.GLU81ASP | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0010 | Disease | p.GLY188ARG | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0017 | Disease | p.GLY225SER | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0012 | Disease | p.GLY188TRP | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0006 | Disease | p.LEU4PHE | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0020 | Disease | p.PRO248GLN | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0002 | Disease | p.PRO53LEU | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0004 | Disease | p.THR62ALA | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0005 | Disease | p.THR228MET | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
OMIM | 606938.0009 | Disease | p.VAL82PHE | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |