Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_054588 | Disease | p.ALA2249ASP | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054593 | Disease | p.ALA2795SER | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025760 | Polymorphism | p.ALA125THR | N/A |
Swiss-Prot | VAR_054560 | Disease | p.ARG303CYS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025780 | Disease | p.ARG4115CYS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054568 | Polymorphism | p.ARG464CYS | N/A |
Swiss-Prot | VAR_038365 | Polymorphism | p.ARG2875GLN | N/A |
Swiss-Prot | VAR_054563 | Disease | p.ARG334GLN | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054597 | Polymorphism | p.ARG3124GLY | N/A |
Swiss-Prot | VAR_038369 | Disease | p.ARG4674GLY | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_054590 | Polymorphism | p.ARG2292HIS | N/A |
Swiss-Prot | VAR_054591 | Disease | p.ARG2354HIS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_068355 | Disease | p.ARG2460HIS | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_068358 | Disease | p.ARG4192HIS | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_025778 | Polymorphism | p.ARG1486LYS | N/A |
Swiss-Prot | VAR_050089 | Polymorphism | p.ARG4739LYS | N/A |
Swiss-Prot | VAR_054561 | Disease | p.ARG303SER | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054571 | Polymorphism | p.ARG517THR | N/A |
Swiss-Prot | VAR_025765 | Disease | p.ARG334TRP | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054620 | Polymorphism | p.ARG5031TRP | N/A |
Swiss-Prot | VAR_034064 | Polymorphism | p.ASN3199ASP | N/A |
Swiss-Prot | VAR_025766 | Disease | p.ASN346HIS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_038366 | Polymorphism | p.ASN3099SER | N/A |
Swiss-Prot | VAR_054565 | Disease | p.ASN357THR | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_038367 | Polymorphism | p.ASP3144ASN | N/A |
Swiss-Prot | VAR_025773 | Polymorphism | p.ASP703GLU | N/A |
Swiss-Prot | VAR_025772 | Polymorphism | p.ASP644VAL | N/A |
Swiss-Prot | VAR_054598 | Disease | p.CYS3251ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054599 | Disease | p.CYS3267ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054600 | Disease | p.CYS3282ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025769 | Disease | p.CYS536ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025767 | Disease | p.CYS419PHE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025775 | Disease | p.CYS759PHE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054572 | Polymorphism | p.CYS575SER | N/A |
Swiss-Prot | VAR_025761 | Disease | p.CYS163TYR | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025764 | Disease | p.CYS319TYR | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_068356 | Disease | p.CYS3358TYR | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_066665 | Polymorphism | p.GLN4203ARG | N/A |
Swiss-Prot | VAR_054616 | Disease | p.GLN4592HIS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054587 | Polymorphism | p.GLU2238ALA | N/A |
Swiss-Prot | VAR_050087 | Polymorphism | p.GLU3411ALA | N/A |
Swiss-Prot | VAR_025768 | Polymorphism | p.GLU478ASP | N/A |
Swiss-Prot | VAR_054559 | Disease | p.GLU284LYS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054595 | Polymorphism | p.GLU3088LYS | N/A |
Swiss-Prot | VAR_054557 | Polymorphism | p.GLY268ARG | N/A |
Swiss-Prot | VAR_061351 | Polymorphism | p.GLY4692ARG | N/A |
Swiss-Prot | VAR_025774 | Polymorphism | p.GLY713ARG | N/A |
Swiss-Prot | VAR_054608 | Disease | p.GLY3895GLU | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_061352 | Polymorphism | p.GLY4838GLU | N/A |
Swiss-Prot | VAR_054570 | Polymorphism | p.GLY516VAL | N/A |
Swiss-Prot | VAR_025771 | Disease | p.HIS610PRO | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_038368 | Polymorphism | p.ILE3335MET | N/A |
Swiss-Prot | VAR_038362 | Polymorphism | p.ILE1665THR | N/A |
Swiss-Prot | VAR_038363 | Polymorphism | p.ILE2106THR | N/A |
Swiss-Prot | VAR_038364 | Polymorphism | p.ILE2169THR | N/A |
Swiss-Prot | VAR_054581 | Polymorphism | p.LEU1470ARG | N/A |
Swiss-Prot | VAR_054618 | Disease | p.LEU4795ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054582 | Polymorphism | p.LEU1572PHE | N/A |
Swiss-Prot | VAR_054558 | Disease | p.LEU280PHE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054594 | Polymorphism | p.LEU2886PHE | N/A |
Swiss-Prot | VAR_054566 | Polymorphism | p.LEU365PHE | N/A |
Swiss-Prot | VAR_054577 | Polymorphism | p.LEU1047VAL | N/A |
Swiss-Prot | VAR_025770 | Disease | p.LEU555VAL | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054585 | Polymorphism | p.LYS2080ASN | N/A |
Swiss-Prot | VAR_054606 | Polymorphism | p.MET3868VAL | N/A |
Swiss-Prot | VAR_068354 | Disease | p.PHE1859CYS | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_054575 | Polymorphism | p.PHE739LEU | N/A |
Swiss-Prot | VAR_054569 | Polymorphism | p.PHE479SER | N/A |
Swiss-Prot | VAR_054574 | Polymorphism | p.PHE595SER | N/A |
Swiss-Prot | VAR_054617 | Polymorphism | p.PHE4624VAL | N/A |
Swiss-Prot | VAR_054611 | Disease | p.PRO4232ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025776 | Disease | p.PRO761ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054578 | Polymorphism | p.PRO1059LEU | N/A |
Swiss-Prot | VAR_054579 | Disease | p.PRO1212LEU | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054605 | Polymorphism | p.PRO3590LEU | N/A |
Swiss-Prot | VAR_054619 | Disease | p.PRO4818LEU | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054602 | Disease | p.PRO3504THR | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054607 | Polymorphism | p.PRO3893THR | N/A |
Swiss-Prot | VAR_068357 | Disease | p.SER3669ARG | Retinitis pigmentosa 39 (RP39) |
Swiss-Prot | VAR_054562 | Polymorphism | p.SER307ILE | N/A |
Swiss-Prot | VAR_054567 | Polymorphism | p.SER391ILE | N/A |
Swiss-Prot | VAR_054610 | Disease | p.SER4054ILE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054580 | Polymorphism | p.SER1349PRO | N/A |
Swiss-Prot | VAR_025777 | Polymorphism | p.SER841TYR | N/A |
Swiss-Prot | VAR_054596 | Polymorphism | p.THR3115ALA | N/A |
Swiss-Prot | VAR_054586 | Polymorphism | p.THR2086ASN | N/A |
Swiss-Prot | VAR_054576 | Polymorphism | p.THR911ASN | N/A |
Swiss-Prot | VAR_054564 | Disease | p.THR352ILE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_050088 | Polymorphism | p.THR3835ILE | N/A |
Swiss-Prot | VAR_054614 | Disease | p.THR4439ILE | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_064761 | Polymorphism | p.THR453ILE | N/A |
Swiss-Prot | VAR_025779 | Disease | p.THR1515MET | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054604 | Disease | p.THR3571MET | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054609 | Disease | p.THR3976MET | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054612 | Disease | p.THR4337MET | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025781 | Polymorphism | p.THR4425MET | N/A |
Swiss-Prot | VAR_054603 | Disease | p.TRP3521ARG | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054583 | Polymorphism | p.TYR1757CYS | N/A |
Swiss-Prot | VAR_054615 | Disease | p.TYR4487CYS | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_054592 | Polymorphism | p.VAL2562ALA | N/A |
Swiss-Prot | VAR_054584 | Disease | p.VAL1833GLU | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_025762 | Disease | p.VAL218GLU | Usher syndrome 2A (USH2A) |
Swiss-Prot | VAR_061350 | Polymorphism | p.VAL2820ILE | N/A |
Swiss-Prot | VAR_054613 | Polymorphism | p.VAL4433LEU | N/A |
Swiss-Prot | VAR_025763 | Disease | p.VAL230MET | Usher syndrome 2A (USH2A) |