Table 5.
Allele frequencies of SLC26A4 mutations in 339 deaf patients from Linyi.
| Mutations | Consequence | Number of alleles | Allele frequency (%) |
|---|---|---|---|
| c.235C>T | p.R79X | 2 | 0.29 |
| c.269C>T | p.S90L | 1 | 0.15 |
| c.563T>C | p.I188T | 1 | 0.15 |
| c.589G>A | p.G197R | 1 | 0.15 |
| c.919-2A>G | Splice site | 65 | 9.59 |
| c.946G>T | p.G316X | 2 | 0.29 |
| c.1173C>A | p.S391R | 1 | 0.15 |
| c.1174A>T | p.N392Y | 2 | 0.29 |
| c.1225C>T | p.R409C | 1 | 0.15 |
| c.1226G>A | p.R409H | 6 | 0.88 |
| c.1318A>T | p.K440X | 1 | 0.15 |
| c.1540C>T | p.Q514X | 1 | 0.15 |
| c.1547_1548InsC | Frameshift | 1 | 0.15 |
| c.1707+5 G>A | Splicing site | 3 | 0.44 |
| c.1975G>C | p.V659L | 5 | 0.74 |
| c.1985G>A | p.C662Y | 1 | 0.15 |
| c.2027T>A | p.L676Q | 2 | 0.29 |
| c.2168A>G | p.H723R | 15 | 2.21 |