Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs1041951 | Polymorphism | p.ARG96GLN | N/A |
Swiss-Prot | VAR_030568 | Disease | p.CYS406SER | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030561 | Disease | p.CYS236TYR | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030569 | Disease | p.CYS406TYR | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030555 | Disease | p.GLN139LEU | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030557 | Disease | p.GLU178LYS | Erythropoietic protoporphyria (EPP) |
dbSNP | rs3848519 | Disease | p.GLY55CYS | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_002386 | Disease | p.HIS386PRO | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030554 | Disease | p.ILE71LYS | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_002384 | Disease | p.ILE186THR | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030558 | Disease | p.LEU182ARG | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030567 | Disease | p.LYS379ASN | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_002385 | Disease | p.MET267ILE | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030564 | Disease | p.MET288LYS | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030562 | Disease | p.PHE260LEU | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_002387 | Disease | p.PHE417SER | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030553 | Disease | p.PRO62ARG | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030565 | Disease | p.PRO334LEU | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030560 | Disease | p.PRO192THR | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_054629 | Disease | p.SER264LEU | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030556 | Disease | p.SER151PRO | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030563 | Disease | p.THR283ILE | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030559 | Disease | p.TYR191HIS | Erythropoietic protoporphyria (EPP) |
Swiss-Prot | VAR_030566 | Disease | p.VAL362GLY | Erythropoietic protoporphyria (EPP) |
OMIM | 612386.0016 | Disease | p.ALA179THR | PROTOPORPHYRIA, ERYTHROPOIETIC |
OMIM | 612386.0001 | Disease | p.GLY55CYS | PROTOPORPHYRIA, ERYTHROPOIETIC |
OMIM | 612386.0002 | Disease | p.MET261ILE | PROTOPORPHYRIA, ERYTHROPOIETIC |
OMIM | 612386.0004 | Disease | p.PHE411SER | PROTOPORPHYRIA, ERYTHROPOIETIC |
OMIM | 612386.0007 | Disease | p.VAL357GLY | PROTOPORPHYRIA, ERYTHROPOIETIC |