Skip to main content

Table 1 GJB2 mutation spectrum in patients with NSHI from south China

From: Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum

Allele 1

Allele 2

No. (Proportion)

Nucleotide

AA change

Nucleotide

AA change

c.109G > A

p.V37I

c.109G > A

p.V37I

44(34.9%)

c.235delC

Frameshift

c.235delC

Frameshift

42(33.3%)

c.235delC

Frameshift

c.109G > A

p.V37I

12(9.52%)

c.235delC

Frameshift

c.299-300delAT

Frameshift

9(7.1%)

c.235delC

Frameshift

c.176-191del16

Frameshift

5(4.0%)

c.235delC

Frameshift

c.512insAACG

Frameshift

4(3.17%)

c.235delC

Frameshift

c.35delG

Frameshift

1(0.8%)

c.235delC

Frameshift

c.257C > G

p.T86R

1(0.8%)

c.299-300delAT

Frameshift

c.299-300delAT

Frameshift

1(0.8%)

c.512insAACG

Frameshift

c.257C > G

p.T86R

2(1.6%)

c.235delC

Frameshift

c.427C > T

p.R143W

1(0.8%)

c.235delC

Frameshift

c.605ins46

Frameshift

1(0.8%)

c.257C > G

p.T86R

c.176-191del16

Frameshift

2(1.6%)

c.109G > A

p.V37I

c.299-300delAT

Frameshift

1(0.8%)