Fig. 2

Numbers of individuals with predicted pathogenic mutations in deafness and retinal disease genes. Numbers of deafness (a, b), known dominant deafness (e, f) and retinal disease (c, d) genes bearing predicted pathogenic variants in thirty patients with hearing loss (a, c, e) and in the 2504 individuals sequenced in the 1000 Genomes study (b, d, f). Variations with a Minor Allele Frequency of 10% or lower in the non-Finnish European population are shown in purple, dark blue, pale blue, and those with a MAF of 1% or lower in the non-Finnish European population in pink, orange and red; pale blue and pink indicate the variants were predicted pathogenic by a majority of predictors, dark blue and orange indicate the variants were predicted pathogenic by all predictors, and red and purple indicate the variants are classified as loss of function variants