GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
KCNQ4 DFNA2 FS71 211del13 exon 1 Belgian (1) Coucke 1999
    L274H 821T>A exon 5 Dutch (1) Van Hauwe 2000
    W276S 827G>C exon 5 Dutch (1); Japanese (1); Dutch (1), Japanese (1) Coucke 1999; Akita 2001; Van Camp 2002
    L281S 842T>C exon 6 American (1) Talebizadeh 1999
    G285C 853G>T exon 6 American (1) Coucke 1999
    G285S G>A exon 6 French (1) Kubisch 1999
    G321S 961G>A exon 7 Dutch (1) Coucke 1999