Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_063485 | Polymorphism | p.ALA2757PRO | N/A |
Swiss-Prot | VAR_063486 | Disease | p.ALA2829THR | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063482 | Polymorphism | p.ARG2326GLN | N/A |
Swiss-Prot | VAR_063443 | Polymorphism | p.ARG551LEU | N/A |
Swiss-Prot | VAR_063461 | Polymorphism | p.ARG1515TRP | N/A |
Swiss-Prot | VAR_063472 | Polymorphism | p.ASN1902ILE | N/A |
Swiss-Prot | VAR_063452 | Polymorphism | p.ASN1163LYS | N/A |
Swiss-Prot | VAR_063479 | Polymorphism | p.ASN2151SER | N/A |
Swiss-Prot | VAR_063448 | Disease | p.ASN745SER | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063465 | Disease | p.ASP1682TYR | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063463 | Polymorphism | p.ASP1662VAL | N/A |
Swiss-Prot | VAR_063453 | Disease | p.CYS1176ARG | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063478 | Disease | p.CYS2139TYR | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063488 | Disease | p.CYS2911TYR | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063444 | Polymorphism | p.GLN571ARG | N/A |
Swiss-Prot | VAR_063456 | Polymorphism | p.GLN1325GLU | N/A |
Swiss-Prot | VAR_064420 | Disease | p.GLN2945GLU | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063467 | Disease | p.GLU1747GLY | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_064419 | Disease | p.GLU2503LYS | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063447 | Polymorphism | p.GLU641VAL | N/A |
Swiss-Prot | VAR_063489 | Disease | p.GLY2928GLU | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063445 | Disease | p.GLY618SER | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063446 | Polymorphism | p.GLY631SER | N/A |
Swiss-Prot | VAR_064418 | Disease | p.GLY2017VAL | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063484 | Polymorphism | p.HIS2599ARG | N/A |
Swiss-Prot | VAR_063454 | Disease | p.ILE1232PHE | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063460 | Polymorphism | p.ILE1451THR | N/A |
Swiss-Prot | VAR_063455 | Polymorphism | p.ILE1263VAL | N/A |
Swiss-Prot | VAR_063457 | Polymorphism | p.ILE1361VAL | N/A |
Swiss-Prot | VAR_063476 | Polymorphism | p.ILE1999VAL | N/A |
Swiss-Prot | VAR_063470 | Disease | p.LEU1869MET | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063468 | Polymorphism | p.LEU1748PHE | N/A |
Swiss-Prot | VAR_063480 | Disease | p.LEU2189PRO | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_043561 | Polymorphism | p.LEU852PRO | N/A |
Swiss-Prot | VAR_063459 | Polymorphism | p.LEU1419SER | N/A |
Swiss-Prot | VAR_063471 | Polymorphism | p.LEU1873VAL | N/A |
Swiss-Prot | VAR_063450 | Polymorphism | p.LYS938ARG | N/A |
Swiss-Prot | VAR_063442 | Polymorphism | p.LYS532ASN | N/A |
Swiss-Prot | VAR_063458 | Polymorphism | p.LYS1365GLU | N/A |
Swiss-Prot | VAR_063437 | Polymorphism | p.PRO94GLN | N/A |
Swiss-Prot | VAR_063466 | Polymorphism | p.PRO1739LEU | N/A |
Swiss-Prot | VAR_063441 | Polymorphism | p.SER326ASN | N/A |
Swiss-Prot | VAR_063483 | Polymorphism | p.SER2556CYS | N/A |
Swiss-Prot | VAR_063462 | Polymorphism | p.SER1517GLY | N/A |
Swiss-Prot | VAR_063473 | Polymorphism | p.SER1915GLY | N/A |
Swiss-Prot | VAR_063481 | Disease | p.SER2211LEU | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063475 | Polymorphism | p.THR1993ALA | N/A |
Swiss-Prot | VAR_063464 | Polymorphism | p.THR1664ILE | N/A |
Swiss-Prot | VAR_063487 | Polymorphism | p.THR2831ILE | N/A |
Swiss-Prot | VAR_063439 | Polymorphism | p.THR135LEU | N/A |
Swiss-Prot | VAR_035301 | Polymorphism | p.THR120MET | N/A |
Swiss-Prot | VAR_063474 | Polymorphism | p.THR1987PRO | N/A |
Swiss-Prot | VAR_063451 | Disease | p.THR1110SER | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_064417 | Disease | p.TRP1484ARG | Retinitis pigmentosa 25 (RP25) |
Swiss-Prot | VAR_063469 | Polymorphism | p.TRP1837SER | N/A |
Swiss-Prot | VAR_063477 | Polymorphism | p.VAL2040ASP | N/A |
Swiss-Prot | VAR_063438 | Polymorphism | p.VAL112ILE | N/A |
Swiss-Prot | VAR_063449 | Polymorphism | p.VAL834ILE | N/A |
Swiss-Prot | VAR_063440 | Polymorphism | p.VAL136PHE | N/A |