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

Table 2

GJB2 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
IVS1+1G>A	Splicing site	Pathogenic	c.9G>A	p.W3X	Unknown	1
34_35insG	Frameshift	Pathogenic	109G>A	p.V37I	Pathogenic	1
34_35insG	Frameshift	Pathogenic	176_191del16	Frameshift	Pathogenic	1
34_35insG	Frameshift	Pathogenic	235delC	Frameshift	Pathogenic	8
34_35insG	Frameshift	Pathogenic	299_300delAT	Frameshift	Pathogenic	2
109G>A	p.V37I	Pathogenic	109G>A	p.V37I	Pathogenic	3
109G>A	p.V37I	Pathogenic	235delC	Frameshift	Pathogenic	1
109G>A	p.V37I	Pathogenic	299_300delAT	Frameshift	Pathogenic	1
109G>A	p.V37I	Pathogenic	—			8
176_191del16	Frameshift	Pathogenic	235delC	Frameshift	Pathogenic	8
235delC	Frameshift	Pathogenic	235delC	Frameshift	Pathogenic	42
235delC	Frameshift	Pathogenic	257C>G	p.T86R	Pathogenic	2
235delC	Frameshift	Pathogenic	299_300delAT	Frameshift	Pathogenic	22
235delC	Frameshift	Pathogenic	427C>T	p.R143W	Pathogenic	2
235delC	Frameshift	Pathogenic	511_512insAACG	Frameshift	Pathogenic	3
235delC	Frameshift	Pathogenic	—			10
299_300delAT	Frameshift	Pathogenic	299_300delAT	Frameshift	Pathogenic	4
299_300delAT	Frameshift	Pathogenic	511_512insAACG	Frameshift	Pathogenic	4
299_300delAT	Frameshift	Pathogenic	—			1
511_512insAACG	Frameshift	Pathogenic	—			1
571T>C	p.F191L	Unknown	—			3