Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_010076 | Disease | p.ALA2VAL | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_009264 | Disease | p.ALA353VAL | Hoyeraal-Hreidarsson syndrome (HHS) |
Swiss-Prot | VAR_063824 | Disease | p.ARG322GLN | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010079 | Disease | p.ARG65THR | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010078 | Disease | p.GLU41LYS | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010084 | Disease | p.GLY402ARG | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_022553 | Polymorphism | p.GLY223ASP | N/A |
Swiss-Prot | VAR_006815 | Disease | p.GLY402GLU | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_015674 | Disease | p.ILE38THR | Hoyeraal-Hreidarsson syndrome (HHS) |
Swiss-Prot | VAR_063823 | Disease | p.LEU317PHE | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_063822 | Disease | p.LEU72PHE | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_063821 | Disease | p.LEU56SER | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_006814 | Disease | p.LEU72TYR | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010081 | Disease | p.LEU321VAL | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010077 | Disease | p.LYS39GLU | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010082 | Disease | p.MET350ILE | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_010083 | Disease | p.MET350THR | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_006811 | Disease | p.PHE36VAL | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_006813 | Disease | p.PRO40ARG | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_063825 | Disease | p.PRO409LEU | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_015676 | Disease | p.SER121GLY | Hoyeraal-Hreidarsson syndrome (HHS) |
Swiss-Prot | VAR_010080 | Disease | p.THR66ALA | Dyskeratosis congenita, X-linked (DKCX) |
Swiss-Prot | VAR_015675 | Disease | p.THR49MET | Hoyeraal-Hreidarsson syndrome (HHS) |
OMIM | 300126.0006 | Disease | p.ALA353VAL | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0013 | Disease | p.GLN31LYS | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0005 | Disease | p.GLY402GLU | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0012 | Disease | p.ILE38THR | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0004 | Disease | p.LEU72TYR | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0001 | Disease | p.PHE36VAL | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0003 | Disease | p.PRO40ARG | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0011 | Disease | p.SER121GLY | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0014 | Disease | p.THR357ALA | DYSKERATOSIS CONGENITA, X-LINKED |
OMIM | 300126.0010 | Disease | p.THR49MET | DYSKERATOSIS CONGENITA, X-LINKED |