GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
USH1C Nonsyndromic Recessive Hearing Loss G431V G>T exon B American (1) Ouyang 2002
    P608R C>G exon D Chinese (1) Ouyang 2002
    R620L G>T exon D American (1) Ouyang 2002
    R636C C>T exon D American (1) Ouyang 2002
             
  Usher Syndrome, Type 1C   IVS1+1G>T   European (1) Zwaenepoel 2001
    R31X 91C>T exon 2 European (1) Zwaenepoel 2001
    No Change 216G>A exon 3 Acadian (French) (1) Bitner-Glindzicz 2000
      233insC exon 3 Pakistani (1); European Muslim (1); European German (1) Bitner-Glindzicz 2000; Verpy 2000; Verpy 2000
      IVS5-2delA   Lebanese (2) Verpy 2000
      IVS5+1G>A   European (1) Zwaenepoel 2001
    9VNTR 45bp repeat intron 5 Acadian (French) (7) Verpy 2000
      122,815bp del 19 of 21 exons Arabic (2) Bitner-Glindzicz 2000