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. 2015 Aug 7;10(8):e0135088. doi: 10.1371/journal.pone.0135088

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