GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
COCH DFNA9 P51S 207C>T exon 4 Belgian (1), Dutch (2) Fransen 1999
    V66G 253T>G exon 4 American (1) Robertson 1998
    G88E 319G>A exon 5 American (1) Robertson 1998
    I109N 382T>A exon 5 Australian (1) Kamarinos 2001
    W117R 405T>C exon 5 American (1) Robertson 1998