GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
PCDH15 Usher Syndrome, Type 1F   IVS27-2A>G   Pakistani (1) Ahmed 2001
    R3X 7C>T exon 2 Pakistani (1); Indian (1) Ahmed 2001; Alagramam 2001
    X @ 419 1471delT exon 10 Hutterite (1) Alagramam 2001