Table 2 Genotypes and phenotypes of 475 deaf probands with bi-allelic GJB2 mutations
From: Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Genotype | Severity of Hearing Loss | Total | |||
|---|---|---|---|---|---|
Mild | Moderate | Severe | Profound | ||
c.235delC /c.235delC | 0 | 11 | 77 | 139 | 227 |
c.109G > A /c.109G > A | 7 | 8 | 20 | 18 | 53 |
c.299_300delAT/c.299_300delAT | 0 | 0 | 3 | 0 | 3 |
c.507insAACG /c.507insAACG | 0 | 0 | 1 | 0 | 1 |
c.235delC /c.299_300delAT | 0 | 2 | 34 | 50 | 86 |
c.235delC /c.109G > A | 0 | 5 | 6 | 9 | 20 |
c.235delC /c.507insAACG | 0 | 1 | 7 | 10 | 18 |
c.235delC /c.257C > G | 0 | 1 | 2 | 8 | 11 |
c.235delC /c.605ins46 | 0 | 0 | 1 | 4 | 5 |
c.235delC /c.139G > T | 0 | 0 | 2 | 3 | 5 |
c.235delC /c.9G > A | 0 | 0 | 1 | 2 | 3 |
c.235delC /c.427C > T | 0 | 0 | 1 | 2 | 3 |
c.235delC /c.36insG | 0 | 0 | 0 | 3 | 3 |
c.235delC /c.598G > A | 0 | 0 | 0 | 2 | 2 |
c.299_300delAT /c.176del16bp | 0 | 1 | 0 | 1 | 2 |
c.257C > G /c.507insAACG | 0 | 0 | 0 | 2 | 2 |
c.36insG /c.176del16bp | 0 | 0 | 0 | 2 | 2 |
c.235delC /c.223C > T | 0 | 0 | 1 | 0 | 1 |
c.235delC /c.231G > A | 0 | 0 | 0 | 1 | 1 |
c.235delC /c.242 T > G | 0 | 0 | 1 | 0 | 1 |
c.235delC /c.257C > T | 0 | 0 | 0 | 1 | 1 |
c.235delC /c.389G > C | 0 | 0 | 1 | 0 | 1 |
c.235delC /c.35delG | 0 | 0 | 0 | 1 | 1 |
c.235delC /c.176del16bp | 0 | 0 | 0 | 1 | 1 |
c.235delC /c.312del14 | 0 | 0 | 1 | 0 | 1 |
c.235delC /c.11G > A | 0 | 0 | 1 | 0 | 1 |
c.299_300delAT /c.-3170G > A | 0 | 0 | 1 | 0 | 1 |
c.299_300delAT /c.257C > G | 0 | 0 | 0 | 1 | 1 |
c.299_300delAT /c.427C > T | 0 | 0 | 0 | 1 | 1 |
c.299_300delAT /c.443delC | 0 | 1 | 0 | 0 | 1 |
c.299_300delAT /c.605ins46 | 0 | 0 | 1 | 0 | 1 |
c.36insG /c.109G > A | 0 | 0 | 1 | 0 | 1 |
c.36insG /c.427C > T | 0 | 0 | 1 | 0 | 1 |
c.36insG /c.507insAACG | 0 | 0 | 0 | 1 | 1 |
c.9G > A /c.231G > A | 0 | 0 | 1 | 0 | 1 |
c.257C > G /c.493insG | 0 | 0 | 0 | 1 | 1 |
c.257C > G /c.299_300delAT | 0 | 0 | 0 | 1 | 1 |
c.379C > T /c.478G > A | 0 | 0 | 0 | 1 | 1 |
c.109G > A /c.605ins46 | 0 | 0 | 1 | 0 | 1 |
c.109G > A /c.299_300delAT | 0 | 0 | 0 | 1 | 1 |
c.109G > A /c.181A > C | 0 | 0 | 1 | 0 | 1 |
c.109G > A /c.250G > A | 0 | 0 | 1 | 0 | 1 |
c.109G > A /c.257C > G | 0 | 0 | 1 | 0 | 1 |
c.109G > A / c.427C > T | 0 | 0 | 1 | 0 | 1 |
c.176del16bp /c.389G > T | 0 | 0 | 0 | 1 | 1 |
c.176del16bp /c. 95G > A | 0 | 0 | 0 | 1 | 1 |
Total | 7 | 30 | 170 | 268 | 475 |