Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004667 | Disease | p.ARG391CYS | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004661 | Disease | p.ARG50GLN | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004662 | Disease | p.ARG73GLN | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004663 | Disease | p.ARG80GLN | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004664 | Disease | p.ARG274LEU | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004656 | Disease | p.GLY33ASP | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004659 | Disease | p.GLY46ASP | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004665 | Disease | p.HIS305GLN | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004657 | Disease | p.HIS35GLN | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_004666 | Disease | p.ILE314SER | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_029309 | Polymorphism | p.LEU230VAL | N/A |
Swiss-Prot | VAR_004658 | Disease | p.LYS45GLU | Rickets vitamin D-dependent 2A (VDDR2A) |
dbSNP | rs2228570 | Polymorphism | p.MET1ARG | N/A |
Swiss-Prot | VAR_004660 | Disease | p.PHE47ILE | Rickets vitamin D-dependent 2A (VDDR2A) |
Swiss-Prot | VAR_029310 | Polymorphism | p.THR362ILE | N/A |
OMIM | 601769.0011 | Disease | p.ARG341CYS | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0002 | Disease | p.ARG23GLN | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0004 | Disease | p.ARG27GLN | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0007 | Disease | p.ARG221LEU | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0006 | Disease | p.GLN99TER | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0014 | Disease | p.GLU279LYS | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0009 | Disease | p.HIS255GLN | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0010 | Disease | p.ILE264SER | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0003 | Disease | p.TYR242TER | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
OMIM | 601769.0015 | Disease | p.VAL296MET | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |