Research Article

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay

Table 3

Allele frequencies of GJB2 mutations in 339 deaf patients from Linyi.

MutationsConsequenceNumber of allelesAllele frequency (%)

IVS1+1G>ASplice site10.15
c.34_35insGFrameshift121.77
c.109G>Ap.V37I172.51
c.176_191del16Frameshift91.33
c.235delCFrameshift14020.65
c.257C>Gp.T86R20.29
c.299_300delATFrameshift385.60
c.427C>Tp.R143W20.29
c.511_512insAACGFrameshift81.18