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.
| Mutations | Consequence | Number of alleles | Allele frequency (%) |
| IVS1+1G>A | Splice site | 1 | 0.15 | c.34_35insG | Frameshift | 12 | 1.77 | c.109G>A | p.V37I | 17 | 2.51 | c.176_191del16 | Frameshift | 9 | 1.33 | c.235delC | Frameshift | 140 | 20.65 | c.257C>G | p.T86R | 2 | 0.29 | c.299_300delAT | Frameshift | 38 | 5.60 | c.427C>T | p.R143W | 2 | 0.29 | c.511_512insAACG | Frameshift | 8 | 1.18 |
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