Table 4. Allele Frequencies of SLC26A4 mutation in 155 deaf patients from Xiamen special education school.
Mutations in the genes | Consequence or amino acid change | Number of alleles | Alleles Frequency (%) | Reference | |
---|---|---|---|---|---|
SLC26A4 | c.IVS7-2A>G | aberrant splicing | 19 | 6.13 | 7 |
c.1079C>T | p.A360V | 5 | 1.61 | 23 | |
c.2168A>G | p.H723R | 4 | 1.29 | 21 | |
c.IVS16-6G>A | aberrant splicing | 3 | 0.97 | 43 | |
c.2086C>T | p.Q696* | 2 | 0.65 | 41 | |
c.754T>C | p.S252P | 1 | 0.32 | 39 | |
c.916_917insG | FS306,P329* | 1 | 0.32 | 40 | |
c.1229C>T | p.T410M | 1 | 0.32 | 39 | |
c.1336C>T | p.Q446* | 1 | 0.32 | 7 | |
c.1472T>C | p.I491T | 1 | 0.32 | 7 | |
c.1595G>T | p.S532I | 1 | 0.32 | 6 | |
c.1692_1693insA | FS565,P573* | 1 | 0.32 | 6 | |
c.2007C>G | p.D669E | 1 | 0.32 | 42 | |
c.1738_1739delAA | FS580,606* | 1 | 0.32 | This study | |
c.1764_1765insAGGAAAATA | Frameshift | 1 | 0.32 | This study |
Note:
*: stop codon