GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
USH2A Usher Syndrome, Type 2A R34X 100C>T exon 2 Norwegian (2) Dreyer 2000
    R63X 187C>T exon 2 Danish (1) Dreyer 2000
    T80FS 239insCGTA exon 2 Iranian (1); British (1) Adato 2000; Leroy 2001
    C163Y 488G>A exon 3 Danish (1) Dreyer 2000
    V218E 653T>A exon 4 British (1) Leroy 2001
    V230M 690G>A exon 4 Danish (1); British (1) Dreyer 2000; Leroy 2001
    L260X 779T>G exon 4 Swedish (1) Weston 2000
    S307FS 921insCAGC exon 6 American (2); Danish (2); British (1) Weston 2000; Dreyer 2000; Leroy 2001
    C319Y 956G>A exon 6 Hispanic American (2) Weston 2000
    R334W 1000C>T exon 6 Moroccan (2); Danish (1) Adato 2000; Dreyer 2000
    N346H 1042A>C exon 6 Swedish (1), American (1); Danish (1), Norwegian (1) Weston 2000; Dreyer 2000
    W409X 1227G>A exon 7 Dutch (3) Weston 2000
    C419F 1256G>T exon 7 Dutch (5) Weston 2000
    C536R 1606T>C exon 9 Danish (1) Dreyer 2000
    L555V 1663C>G exon 10 British (1) Leroy 2001
    P560FS 1679delC exon 10 American (1) Weston 2000
    Q566X 1696C>T exon 10 Swedish (1) Weston 2000
    R626X 1876C>T exon 11 American (1); Danish (1); British (1) Weston 2000; Dreyer 2000; Leroy 2001
    L654FS 1965delT exon 11 Danish (1) Dreyer 2000
      IVS11+81A>G   American (2) Weston 2000
    Q675X 2023C>T exon 12 Danish (1) Dreyer 2000
    G713R 2137G>C exon 12 Danish (1) Dreyer 2000
    C759F 2276G>T exon 13 Danish (1) Dreyer 2000*
      *Also found in RP without hearing loss by Rivolta 2000      
    E767FS 2299delG* exon 13 N. European, Spain, African American (21 total); British (10), China (2); Danish (16), Norwegian (3); European (30), African (1); British (11) Eudy 1998; Liu 1999; Dreyer 2000; Weston 2000; Leroy 2001
      *most common mutation      
    C847X 2541C>A exon 13 African American (1) Weston 2000
    Q933X 2797C>T exon 13 Danish (2) Dreyer 2000
    V959FS 2878delAA exon 14 Danish (1) Dreyer 2000
    T967FS 2898delG exon 14 Venezualan (2) Eudy 1998
    MR1280IX 3840GA>CT exon 18 American (1) Weston 2000
    R1295X 3883C>T exon 18 Swedish (1); Norwegian (1) Weston 2000; Dreyer 2000
    Q1447FS 4338delCT exon 20 French Acadian (1) Eudy 1998
    R1504FS 4510insA exon 21 American (1) Weston 2000
    T1515M 4544C>T exon 21 Moroccan (1) Adato 2000
             
  Recessive Retinitis Pigmentosa without hearing loss C759F 2276G>T exon 13 North American (10) Rivolta 2000*
      *Also found in Usher2A by Dreyer 2000