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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