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Table 1 Genotypes of patients with mutations in the GJB2 gene

From: Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

Allele1

  

Allele2

   

Nucleotide change

Consequence or amino change

Category

Nucleotide change

Consequence or amino change

Category

Number of patients

c.235delC

Frameshift

Pathogenic

c.235delC

Frameshift

Pathogenic

20

c.139G > T

Glu at 47 into Stop

Pathogenic

c.139G > T

Glu at 47 into Stop

Pathogenic

1

c.176del16

Frameshift

Pathogenic

c.176del16

Frameshift

Pathogenic

1

c.299del AT

Frameshift

Pathogenic

c.299delAT

Frameshift

Pathogenic

2

c.512insAACG

Frameshift

Pathogenic

c.512insAACG

Frameshift

Pathogenic

1

c.235delC

Frameshift

Pathogenic

c.299delAT

Frameshift

Pathogenic

3

c.176del16

Frameshift

Pathogenic

c.235delC

Frameshift

Pathogenic

1

c.235delC

Frameshift

Pathogenic

c.512insAACG

Frameshift

Pathogenic

1

c.35insG

Frameshift

Pathogenic

c.512insAACG

Frameshift

Pathogenic

1

c.139G > T

Glu at 47 into Stop

Pathogenic

c.299delAT

Frameshift

Pathogenic

1

c.9G > A

 

Pathogenic

c.235delC

Frameshift

Pathogenic

1

c.11G > A

 

Pathogenic

c.235delC

Frameshift

Pathogenic

1

c.235delC

Frameshift

Pathogenic

   

5

c.512insAACG

Frameshift

Pathogenic

   

1

c.431-450del19

Novel

    

1