GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
USH3 Usher Syndrome, Type 3 N48K 144T>G exon 1 Ashkenazi Jewish (5) Fields 2002
      149delCAGG/ insTGTCCAAT exon 1 Scottish-Irish (1), N. European (1) Fields 2002
      165delC exon 1 Dutch (1) Fields 2002
    M120K 359T>A exon 1 Finnish (2) Joensuu 2001
    L150P 449T>C exon 3 Ashkenazi Jewish (1) Fields 2002
    IL153M 459-461delATT exon 3 Italian (1) Joensuu 2001
    Y176X 528T>G exon 3 Finnish (52); Finnish (3), Swedish (2), Scottish-Irish (1) Joensuu 2001; Fields 2002