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

Table 1 Genotypes of patients with mutations in the GJB2 gene

Allele 1			Allele 2
Nucleotide Change	Consequence or amino acid change	Category	Nucleotide change	Consequence or amino acid change	Category	Number of patients
c.235delC	Frameshift	Pathogenic	c.235delC	Frameshift	Pathogenic	31
c.235delC	Frameshift	Pathogenic	c.299_300delAT	Frameshift	Pathogenic	8
c.235delC	Frameshift	Pathogenic	c.176_191del16	Frameshift	Pathogenic	5
c.235delC	Frameshift	Pathogenic	c.257C>G	T86R TM2	Pathogenic	1
c.560_605ins46	Frameshift	Pathogenic	c.560_.605ins46	Frameshift	Pathogenic	1
c.299_300delAT	Frameshift	Pathogenic	c.176_191del16	Frameshift	Pathogenic	4
c.176_191del16	Frameshift	Pathogenic	c.176_191del16	Frameshift	Pathogenic	1
c.223C>T	R75W EC1 Autosomal dominant	^aPathogenic PPK	c.79G>A, c.341A>G	V27I, E114G	Polymorphism	1
c.235delC	Frameshift	Pathogenic	-			20
c.299_300delAT	Frameshift	Pathogenic	-			6
c.155_158delTCTG	Frameshift	Pathogenic	-			1
c.592G>A	^bV198M TM4	Novel	c.79G>A, c.341A>G	V27I, E114G	Polymorphism	2
c.187G>T	^bV63L EC1	Reported	-			1
c.458T>C	^bV153AEC2	Novel	c.608T>C	I203T	Polymorphism	1
c.109G>A	^cV37I, TM1	^cSee note	-			2
c.109G>A	^cV37I	^cSee note	c.79G>A, c.341A>G	V27I, E114G	Polymorphism	1
c.79G>A, c.341A>G	V27I, E114G IC2	Polymorphism	-			42
c.79G>A, c.341A>G	V27I, E114G	Polymorphism	c.79G>A, c.341A>G	V27I, E114G	Polymorphism	2
c.341A>G	E114G	Polymorphism	-			1
c.79G>A	V27I TM1	Polymorphism	-			8
c.79G>A	V27I	Polymorphism	c.79G>A	V27I	Polymorphism	1

ISSN: 1479-5876