Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021413 | Disease | p.ARG304GLN | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) |
dbSNP | rs3740129 | Polymorphism | p.ARG357GLN | N/A |
Swiss-Prot | VAR_047856 | Disease | p.ARG222TRP | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) |
Swiss-Prot | VAR_047859 | Disease | p.GLU372LYS | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) |
Swiss-Prot | VAR_021414 | Polymorphism | p.ILE348MET | N/A |
Swiss-Prot | VAR_047857 | Disease | p.LEU259PRO | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) |
Swiss-Prot | VAR_047858 | Disease | p.LEU307PRO | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) |
OMIM | 603799.0001 | Disease | p.ARG304GLN | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0003 | Disease | p.ARG222TRP | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0012 | Disease | p.GLN330TER | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0008 | Disease | p.GLU372LYS | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0011 | Disease | p.LEU161PHE | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0002 | Disease | p.LEU259PRO | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0007 | Disease | p.LEU286PRO | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0004 | Disease | p.LEU307PRO | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0010 | Disease | p.PHE159ILE | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0009 | Disease | p.THR141MET | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
OMIM | 603799.0006 | Disease | p.TYR201TER | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |