Table 2 Summary of GJB2 mono-allelic mutations in patients with NSHI from south China

c.109G > A

p.V37I

Pathogenic

75(10.7%)

c.235delC

Frameshift

Pathogenic

5(0.71%)

c.512insAACG

Frameshift

Pathogenic

3(0.42%)

c.187G > T

p.V63L

Unclassified

2(0.29%)

c.186C > T

p.N62N

Polymorphism

1(0.14%)

c.558G > A

p.T186T

Polymorphism

2(0.29%)

c.11G > A

p.G4D

Pathogenic

2(0.29%)

c.368C > A

p.T123N

Unclassified

2(0.29%)

c.608 T > C

p.I203T

Polymorphism

6(0.85%)