Skip to main content

Advertisement

Table 1 GJB2 mutation spectrum in patients with NSHI from south China

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

Allele 1 Allele 2 No. (Proportion)
Nucleotide AA change Nucleotide AA change
c.109G > A p.V37I c.109G > A p.V37I 44(34.9%)
c.235delC Frameshift c.235delC Frameshift 42(33.3%)
c.235delC Frameshift c.109G > A p.V37I 12(9.52%)
c.235delC Frameshift c.299-300delAT Frameshift 9(7.1%)
c.235delC Frameshift c.176-191del16 Frameshift 5(4.0%)
c.235delC Frameshift c.512insAACG Frameshift 4(3.17%)
c.235delC Frameshift c.35delG Frameshift 1(0.8%)
c.235delC Frameshift c.257C > G p.T86R 1(0.8%)
c.299-300delAT Frameshift c.299-300delAT Frameshift 1(0.8%)
c.512insAACG Frameshift c.257C > G p.T86R 2(1.6%)
c.235delC Frameshift c.427C > T p.R143W 1(0.8%)
c.235delC Frameshift c.605ins46 Frameshift 1(0.8%)
c.257C > G p.T86R c.176-191del16 Frameshift 2(1.6%)
c.109G > A p.V37I c.299-300delAT Frameshift 1(0.8%)