Genotypes of the 48 children with mutations in common deafness genes.

a The phenotype of SNHI might be caused either by bi-allelic GJB2 mutations or by the GJB2 p.R143Q mutation alone in dominant inheritance.b The p.P8T (c.22C>A) mutation is in a minor SLC26A4 transcript (UCSC Genes:uc011kmb.2).c Six of the 23 patients with bi-allelic SLC26A4 mutations also incidentally carry one GJB2 variant allele, including 3 with GJB2 p.V37I, 1 with GJB2 c.235delC, 1 with GJB2 c.299_300del, and 1 with GJB2 c.508_511dup.Genotypes of the 48 children with mutations in common deafness genes.