Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

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

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

Nucleotide AA change Category No. (Proportion)
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%)