Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_009325 | Disease | p.ALA397ASP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024039 | Disease | p.ALA26GLU | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009338 | Disease | p.ALA1288PRO | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009341 | Disease | p.ALA1628SER | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027304 | Disease | p.ALA198THR | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009332 | Disease | p.ALA826THR | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024046 | Disease | p.ALA457VAL | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009318 | Disease | p.ARG212CYS | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024044 | Disease | p.ARG241CYS | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027308 | Disease | p.ARG853CYS | Deafness, autosomal dominant, 11 (DFNA11) |
Swiss-Prot | VAR_009337 | Disease | p.ARG1240GLN | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009340 | Disease | p.ARG1602GLN | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024053 | Disease | p.ARG1883GLN | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009319 | Disease | p.ARG212HIS | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009324 | Polymorphism | p.ARG302HIS | N/A |
Swiss-Prot | VAR_009323 | Disease | p.ARG244PRO | Deafness, autosomal recessive, 2 (DFNB2) |
Swiss-Prot | VAR_024041 | Disease | p.ARG90PRO | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009339 | Disease | p.ARG1343SER | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009322 | Disease | p.ARG241SER | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024051 | Disease | p.ARG1743TRP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027314 | Disease | p.ARG1873TRP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024048 | Disease | p.ARG756TRP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027306 | Disease | p.ASN458ILE | Deafness, autosomal dominant, 11 (DFNA11) |
Swiss-Prot | VAR_027316 | Polymorphism | p.ASP2142ASN | N/A |
Swiss-Prot | VAR_024049 | Disease | p.GLU968ASP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009326 | Disease | p.GLU450GLN | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009336 | Disease | p.GLU1170LYS | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027309 | Disease | p.GLU1327LYS | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_056187 | Polymorphism | p.GLU602LYS | N/A |
Swiss-Prot | VAR_027302 | Disease | p.GLY163ARG | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009320 | Disease | p.GLY214ARG | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009316 | Disease | p.GLY25ARG | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027307 | Disease | p.GLY722ARG | Deafness, autosomal dominant, 11 (DFNA11) |
Swiss-Prot | VAR_024055 | Disease | p.GLY2187ASP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024047 | Disease | p.GLY519ASP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009347 | Disease | p.GLY2137GLU | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027313 | Polymorphism | p.GLY1740SER | N/A |
Swiss-Prot | VAR_009348 | Disease | p.GLY2163SER | Usher syndrome 1B (USH1B) |
dbSNP | rs111033231 | Polymorphism | p.GLY2214SER | N/A |
Swiss-Prot | VAR_009334 | Disease | p.GLY955SER | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027301 | Disease | p.HIS133ASP | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024042 | Disease | p.ILE134ASN | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009317 | Polymorphism | p.ILE205VAL | N/A |
dbSNP | rs948962 | Polymorphism | p.LEU1954ILE | N/A |
Swiss-Prot | VAR_009335 | Disease | p.LEU1087PRO | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_024052 | Disease | p.LEU1858PRO | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009331 | Disease | p.LEU651PRO | Usher syndrome 1B (USH1B) |
dbSNP | rs1052030 | Polymorphism | p.LEU16SER | N/A |
Swiss-Prot | VAR_009315 | Disease | p.LEU16SER | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_027303 | Disease | p.LYS164ARG | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009330 | Disease | p.MET599ILE | Deafness, autosomal recessive, 2 (DFNB2) |
Swiss-Prot | VAR_009346 | Polymorphism | p.PHE1992ILE | N/A |
Swiss-Prot | VAR_024054 | Disease | p.PRO1887LEU | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009328 | Disease | p.PRO503LEU | Usher syndrome 1B (USH1B) |
dbSNP | rs2276288 | Polymorphism | p.SER1666CYS | N/A |
Swiss-Prot | VAR_027312 | Polymorphism | p.SER1666GLY | N/A |
dbSNP | rs111033183 | Polymorphism | p.SER1530LEU | N/A |
Swiss-Prot | VAR_027305 | Disease | p.THR204ALA | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_066861 | Polymorphism | p.THR193ILE | N/A |
Swiss-Prot | VAR_027311 | Polymorphism | p.THR1566MET | N/A |
Swiss-Prot | VAR_024043 | Disease | p.THR165MET | Usher syndrome 1B (USH1B) |
Swiss-Prot | VAR_009344 | Polymorphism | p.TYR1719CYS | N/A |
Swiss-Prot | VAR_009329 | Polymorphism | p.VAL597ILE | N/A |
dbSNP | rs35641839 | Polymorphism | p.VAL679ILE | N/A |
Swiss-Prot | VAR_024040 | Disease | p.VAL67MET | Usher syndrome 1B (USH1B) |
OMIM | 276903.0005 | Disease | p.ARG212CYS | USHER SYNDROME, TYPE IB |
OMIM | 276903.0004 | Disease | p.ARG212HIS | USHER SYNDROME, TYPE IB |
OMIM | 276903.0006 | Disease | p.ARG302HIS | USHER SYNDROME, TYPE IB |
OMIM | 276903.0021 | Disease | p.ARG395HIS | DEAFNESS, AUTOSOMAL RECESSIVE 2 |
OMIM | 276903.0007 | Disease | p.ARG244PRO | DEAFNESS, AUTOSOMAL RECESSIVE 2 |
OMIM | 276903.0001 | Disease | p.ARG150TER | USHER SYNDROME, TYPE IB |
OMIM | 276903.0016 | Disease | p.ARG666TER | USHER SYNDROME, TYPE IB |
OMIM | 276903.0015 | Disease | p.ASN458ILE | DEAFNESS, AUTOSOMAL DOMINANT 11 |
OMIM | 276903.0019 | Disease | p.ASP218ASN | DEAFNESS, AUTOSOMAL DOMINANT 11 |
OMIM | 276903.0013 | Disease | p.CYS31TER | USHER SYNDROME, TYPE IB |
OMIM | 276903.0012 | Disease | p.CYS628TER | USHER SYNDROME, TYPE IB |
OMIM | 276903.0002 | Disease | p.GLN234TER | USHER SYNDROME, TYPE IB |
OMIM | 276903.0020 | Disease | p.GLY671SER | DEAFNESS, AUTOSOMAL DOMINANT 11 |
OMIM | 276903.0010 | Disease | p.MET599ILE | DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB, INCLUDED |