Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Table 3 Genotypes of patients and controls with variants in GJB3 gene

Allele 1			Allele 2			Domain	Number of patients^d	Number of controls
Nucleotide Change	Consequence or amino acid change	Category	Nucleotide change	Consequence or amino acid change	Category
c.24_49ins26bp	Frameshift	Novel pathogenic	-			IC1	1
c.497A>G	N166S	Novel pathogenic	-			EC2	1
c.580G>A	A194T	Unclassified	-			TM4		2
c.250A>G	V84I	Polymorphism	-			TM2	2
c.250A>G	V84I	Polymorphism	c.250A>G	V84I	Polymorphism			1
c.357C>T	N119N	Polymorphism	-			IC2	39	38
c.357C>T	N119N	Polymorphism	c.357C>T	N119N	Polymorphism			2
c.327C>T	H109H	Novel Polymorphism	-			IC2		1
c.87C>T	F29F	Polymorphism	-			TM1	1	2

ISSN: 1479-5876