Research Article
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay
Table 2
GJB2 genotypes of deaf patients from Linyi.
| Allele 1 | Allele 2 |
Number of patients | Nucleotide change | Consequence or amino acid change | Category | Nucleotide change | Consequence or amino acid change | Category |
| IVS1+1G>A | Splicing site | Pathogenic | c.9G>A | p.W3X | Unknown | 1 | 34_35insG | Frameshift | Pathogenic | 109G>A | p.V37I | Pathogenic | 1 | 34_35insG | Frameshift | Pathogenic | 176_191del16 | Frameshift | Pathogenic | 1 | 34_35insG | Frameshift | Pathogenic | 235delC | Frameshift | Pathogenic | 8 | 34_35insG | Frameshift | Pathogenic | 299_300delAT | Frameshift | Pathogenic | 2 | 109G>A | p.V37I | Pathogenic | 109G>A | p.V37I | Pathogenic | 3 | 109G>A | p.V37I | Pathogenic | 235delC | Frameshift | Pathogenic | 1 | 109G>A | p.V37I | Pathogenic | 299_300delAT | Frameshift | Pathogenic | 1 | 109G>A | p.V37I | Pathogenic | — | | | 8 | 176_191del16 | Frameshift | Pathogenic | 235delC | Frameshift | Pathogenic | 8 | 235delC | Frameshift | Pathogenic | 235delC | Frameshift | Pathogenic | 42 | 235delC | Frameshift | Pathogenic | 257C>G | p.T86R | Pathogenic | 2 | 235delC | Frameshift | Pathogenic | 299_300delAT | Frameshift | Pathogenic | 22 | 235delC | Frameshift | Pathogenic | 427C>T | p.R143W | Pathogenic | 2 | 235delC | Frameshift | Pathogenic | 511_512insAACG | Frameshift | Pathogenic | 3 | 235delC | Frameshift | Pathogenic | — | | | 10 | 299_300delAT | Frameshift | Pathogenic | 299_300delAT | Frameshift | Pathogenic | 4 | 299_300delAT | Frameshift | Pathogenic | 511_512insAACG | Frameshift | Pathogenic | 4 | 299_300delAT | Frameshift | Pathogenic | — | | | 1 | 511_512insAACG | Frameshift | Pathogenic | — | | | 1 | 571T>C | p.F191L | Unknown | — | | | 3 |
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