TableĀ 1.

Mutations in the MYO6 gene (n.a., not available).

exonnucleotide changeamino acid changetime of onsetphenotypeshape of audiogram
8c.614G > Ap.R205Qfirst decadeprogressive, mild to moderateU-shaped or flat
24c.2473C > Tp.R825Xn.a.progressive, moderate to profounddown-sloping
26c.2752insAp.Q918fsX941fifth decadeprogressive, moderateflat
28c.2971C > Tp.R991Xsecond decadeprogressive, mild to moderatedown-sloping