Table 1 GJB2 IVS1+1G>A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in GJB2

Exon 2

Exon 1 or splice site

Nucleotide change

Consequence

or amino acid

change

Category

Nucleotide change

Consequence

or amino acid

change

Category

Number of

patients

c.235delC

Frameshift mutation

pathogenic

IVS1+1G>A

Splicing site mutation

pathogenic

2

c.35delG

Frameshift mutation

pathogenic

IVS1+1G>A

Splicing site mutation

pathogenic

1

c.9G>A/c.11G>A

W3X/G4D

pathogenic/pathogenic

IVS1+1G>A

Splicing site mutation

pathogenic

1

c.235delC

Frameshift mutation

pathogenic

c.-3175C>T

Non-coding

Not determined

1

c.235delC

Frameshift mutation

pathogenic

161

c.299delAT

Frameshift mutation

pathogenic

24

c.176del16bp

Frameshift mutation

pathogenic

6

c.35delG

Frameshift mutation

pathogenic

4

c.424_426 delTTC

Frameshift mutation

pathogenic

4

c.9G>A

W3X

pathogenic

1

c.512insAACG

Frameshift mutation

pathogenic

2

c.605ins46

Frameshift mutation

pathogenic

2

c.155_158delTCTG

Frameshift mutation

pathogenic

1

c.35insG

Frameshift mutation

pathogenic

2

Total

212