Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_035705 | Polymorphism | p.ALA119VAL | N/A |
Swiss-Prot | VAR_021129 | Disease | p.ARG61CYS | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021130 | Disease | p.ARG117GLY | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_007494 | Disease | p.ARG247HIS | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_007493 | Disease | p.ARG61HIS | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_017409 | Disease | p.ARG444LYS | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021133 | Disease | p.ASP242GLY | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_007495 | Disease | p.ASP263GLY | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021135 | Disease | p.GLY280ASP | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021128 | Disease | p.GLY59ASP | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021138 | Disease | p.GLY301SER | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021131 | Disease | p.LEU121PRO | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_061897 | Polymorphism | p.LYS277ARG | N/A |
Swiss-Prot | VAR_021137 | Disease | p.PRO294ARG | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_021136 | Disease | p.PRO294LEU | Trifunctional protein deficiency (TFP deficiency) |
Swiss-Prot | VAR_028231 | Polymorphism | p.PRO209SER | N/A |
Swiss-Prot | VAR_021132 | Disease | p.THR133PRO | Trifunctional protein deficiency (TFP deficiency) |
OMIM | 143450.0003 | Disease | p.ARG247HIS | TRIFUNCTIONAL PROTEIN DEFICIENCY |
OMIM | 143450.0002 | Disease | p.ARG61HIS | TRIFUNCTIONAL PROTEIN DEFICIENCY |
OMIM | 143450.0004 | Disease | p.ARG411LYS | TRIFUNCTIONAL PROTEIN DEFICIENCY |
OMIM | 143450.0001 | Disease | p.ASP263GLY | TRIFUNCTIONAL PROTEIN DEFICIENCY |
OMIM | 143450.0006 | Disease | p.VAL422GLY | TRIFUNCTIONAL PROTEIN DEFICIENCY |