Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay

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