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

Table 4

SLC26A4 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
c.147C>G	p.S49R	Unknown	—			1
c.235C>T	p.R79X	Pathogenic	c.919-2A>G	Splice site	Pathogenic	1
c.235C>T	p.R79X	Pathogenic	—			1
c.269C>T	p.S90L	Pathogenic	—			1
c.563T>C	p.I188T	Pathogenic	c.919-2A>G	Splice site	Pathogenic	1
c.589G>A	p.G197R	Pathogenic	c.919-2A>G	Splice site	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.919-2A>G	Splice site	Pathogenic	13
c.919-2A>G	Splice site	Pathogenic	c.946G>T	p.G316X	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.1174A>T	p.N392Y	Pathogenic	2
c.919-2A>G	Splice site	Pathogenic	c.1226G>A	p.R409H	Pathogenic	3
c.919-2A>G	Splice site	Pathogenic	c.1318A>T	p.K440X	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.1540C>T	p.Q514X	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.1547_1548InsC	Frameshift	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.1707+5 G>A	Splice site	Pathogenic	3
c.919-2A>G	Splice site	Pathogenic	c.1975G>C	p.V659L	Pathogenic	3
c.919-2A>G	Splice site	Pathogenic	c.1985G>A	p.C662Y	Pathogenic	1
c.919-2A>G	Splice site	Pathogenic	c.2027T>A	p.L676Q	Pathogenic	2
c.919-2A>G	Splice site	Pathogenic	c.2168A>G	p.H723R	Pathogenic	6
c.919-2A>G	Splice site	Pathogenic	—			12
c.946G>T	p.G316X	Pathogenic	c.2168A>G	p.H723R	Pathogenic	1
c.1173C>A	p.S391R	Pathogenic	c.2168A>G	p.H723R	Pathogenic	1
c.1225C>T	p.R409C	Pathogenic	—			1
c.1226G>A	p.R409H	Pathogenic	c.1975G>C	p.V659L	Pathogenic	1
c.1226G>A	p.R409H	Pathogenic	c.2168A>G	p.H723R	Pathogenic	1
c.1226G>A	p.R409H	Pathogenic	—			1
c.1975G>C	p.V659L	Pathogenic	—			1
c.2168A>G	p.H723R	Pathogenic	c.2168A>G	p.H723R	Pathogenic	1
c.2168A>G	p.H723R	Pathogenic	—			4