Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_069602 | Disease | p.ALA2304THR | Asphyxiating thoracic dystrophy 3 (ATD3) |
dbSNP | rs10895391 | Polymorphism | p.ALA3680VAL | N/A |
Swiss-Prot | VAR_069598 | Disease | p.ARG1423CYS | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_069591 | Disease | p.ARG330CYS | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_069613 | Disease | p.ARG3806CYS | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069593 | Disease | p.ARG430CYS | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_063243 | Disease | p.ARG587CYS | Short rib-polydactyly syndrome 3 (SRPS3) |
Swiss-Prot | VAR_069604 | Disease | p.ARG2481GLN | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069610 | Disease | p.ARG2662GLN | Short rib-polydactyly syndrome 2B (SRPS2B) |
dbSNP | rs589623 | Polymorphism | p.ARG2871GLN | N/A |
dbSNP | rs17099969 | Polymorphism | p.ARG456GLN | N/A |
Swiss-Prot | VAR_069592 | Disease | p.ARG338GLY | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_063248 | Disease | p.ARG2205HIS | Short rib-polydactyly syndrome 3 (SRPS3) |
Swiss-Prot | VAR_038867 | Polymorphism | p.ARG1221LYS | N/A |
Swiss-Prot | VAR_038866 | Polymorphism | p.ARG789LYS | N/A |
Swiss-Prot | VAR_069606 | Disease | p.ARG2532TRP | Asphyxiating thoracic dystrophy 3 (ATD3) |
dbSNP | rs72989738 | Polymorphism | p.ASN1576LYS | N/A |
Swiss-Prot | VAR_069603 | Disease | p.ASN2362SER | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_063250 | Disease | p.ASP3015GLY | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_063245 | Disease | p.GLN1537ARG | Asphyxiating thoracic dystrophy 3 (ATD3) |
dbSNP | rs12146610 | Polymorphism | p.GLN304LEU | N/A |
Swiss-Prot | VAR_038873 | Polymorphism | p.GLN4139PRO | N/A |
Swiss-Prot | VAR_069599 | Disease | p.GLY1442ASP | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069615 | Polymorphism | p.GLY3909ASP | N/A |
Swiss-Prot | VAR_063249 | Disease | p.GLY2461VAL | Short rib-polydactyly syndrome 3 (SRPS3) |
dbSNP | rs17301182 | Polymorphism | p.HIS341TYR | N/A |
Swiss-Prot | VAR_069611 | Disease | p.ILE2819MET | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_063244 | Disease | p.ILE1240THR | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069609 | Disease | p.ILE2640THR | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069616 | Disease | p.LEU4232ARG | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069596 | Disease | p.LEU1228ILE | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069595 | Disease | p.LEU871PRO | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_063251 | Disease | p.LEU3762VAL | Asphyxiating thoracic dystrophy 3 (ATD3) |
dbSNP | rs688906 | Polymorphism | p.LYS1413ARG | N/A |
Swiss-Prot | VAR_069594 | Disease | p.LYS495ARG | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_063247 | Disease | p.MET1991LEU | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069600 | Disease | p.MET1991LYS | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069597 | Disease | p.MET1379VAL | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069601 | Disease | p.MET2227VAL | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_063242 | Disease | p.PHE209ILE | Short rib-polydactyly syndrome 3 (SRPS3) |
Swiss-Prot | VAR_069612 | Disease | p.PRO3381LEU | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069605 | Disease | p.PRO2496SER | Short rib-polydactyly syndrome 2B (SRPS2B) |
Swiss-Prot | VAR_038872 | Polymorphism | p.SER3976ASN | N/A |
dbSNP | rs17301750 | Polymorphism | p.THR1288ALA | N/A |
Swiss-Prot | VAR_063246 | Disease | p.THR1987ALA | Short rib-polydactyly syndrome 3 (SRPS3) |
Swiss-Prot | VAR_038862 | Polymorphism | p.THR302PRO | N/A |
Swiss-Prot | VAR_069614 | Disease | p.TRP3847GLY | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069608 | Disease | p.TYR2573CYS | Asphyxiating thoracic dystrophy 3 (ATD3) |
Swiss-Prot | VAR_069607 | Disease | p.VAL2555MET | Asphyxiating thoracic dystrophy 3 (ATD3) |
OMIM | 603297.0019 | Disease | p.ARG330CYS | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB |
OMIM | 603297.0007 | Disease | p.ARG587CYS | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
OMIM | 603297.0017 | Disease | p.ARG2662GLN | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB |
OMIM | 603297.0008 | Disease | p.ARG2205HIS | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
OMIM | 603297.0009 | Disease | p.ARG2838TER | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
OMIM | 603297.0004 | Disease | p.ASP3015GLY | ASPHYXIATING THORACIC DYSTROPHY 3 |
OMIM | 603297.0012 | Disease | p.GLN1537ARG | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
OMIM | 603297.0016 | Disease | p.GLY3909ASP | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA/B, DIGENIC |
OMIM | 603297.0006 | Disease | p.GLY3348TER | ASPHYXIATING THORACIC DYSTROPHY 3 |
OMIM | 603297.0013 | Disease | p.GLY2461VAL | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
OMIM | 603297.0005 | Disease | p.ILE1240THR | ASPHYXIATING THORACIC DYSTROPHY 3 |
OMIM | 603297.0001 | Disease | p.MET1991LEU | ASPHYXIATING THORACIC DYSTROPHY 3 |
OMIM | 603297.0002 | Disease | p.MET3755VAL | ASPHYXIATING THORACIC DYSTROPHY 3 |
OMIM | 603297.0018 | Disease | p.PRO2496SER | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB |
OMIM | 603297.0014 | Disease | p.THR1987ALA | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |