Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_020840 | Disease | p.ALA256GLU | Enhanced S cone syndrome (ESCS) |
dbSNP | rs35004053 | Polymorphism | p.ARG366CYS | N/A |
Swiss-Prot | VAR_062769 | Polymorphism | p.ARG104GLN | N/A |
Swiss-Prot | VAR_010034 | Disease | p.ARG311GLN | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_009266 | Disease | p.ARG76GLN | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_010033 | Disease | p.ARG309GLY | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_062772 | Polymorphism | p.ARG334GLY | N/A |
Swiss-Prot | VAR_010025 | Disease | p.ARG97HIS | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_010035 | Disease | p.ARG385PRO | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_010026 | Disease | p.ARG104TRP | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_009267 | Disease | p.ARG76TRP | Enhanced S cone syndrome (ESCS) |
dbSNP | rs1805020 | Polymorphism | p.GLU140GLY | N/A |
Swiss-Prot | VAR_010027 | Disease | p.GLU121LYS | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_037026 | Disease | p.GLY56ARG | Retinitis pigmentosa 37 (RP37) |
Swiss-Prot | VAR_062770 | Polymorphism | p.GLY287SER | N/A |
Swiss-Prot | VAR_020839 | Disease | p.GLY88VAL | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_020841 | Disease | p.LEU263PRO | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_020842 | Disease | p.LEU336PRO | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_020843 | Disease | p.LEU353VAL | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_062771 | Polymorphism | p.LYS324ARG | N/A |
Swiss-Prot | VAR_010036 | Disease | p.MET407LYS | Enhanced S cone syndrome (ESCS) |
dbSNP | rs1805021 | Polymorphism | p.MET163THR | N/A |
Swiss-Prot | VAR_062768 | Polymorphism | p.SER44LEU | N/A |
Swiss-Prot | VAR_010031 | Disease | p.TRP234SER | Enhanced S cone syndrome (ESCS) |
Swiss-Prot | VAR_010030 | Polymorphism | p.VAL232ILE | N/A |
Swiss-Prot | VAR_010032 | Polymorphism | p.VAL302ILE | N/A |
OMIM | 604485.0005 | Disease | p.ARG311GLN | ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME, INCLUDED |
OMIM | 604485.0003 | Disease | p.ARG76GLN | ENHANCED S-CONE SYNDROME |
OMIM | 604485.0002 | Disease | p.ARG76TRP | ENHANCED S-CONE SYNDROME |
OMIM | 604485.0006 | Disease | p.GLY56ARG | RETINITIS PIGMENTOSA 37 |