Table 2 Genotypes of GJB2 gene in patients with hearing loss and controls
Allele 1 | Allele 2 | Numbers found in patients (N = 658) | Numbers found in controls (N = 462) | Exon 1 or splice site nucleotide change | ||||
|---|---|---|---|---|---|---|---|---|
Nucleotide change | Consequence or amino acid change | Category | Nucleotide change | Consequence or amino acid change | Category | |||
c.35delG | Frameshift mutation | pathogenic | - | - | - | 1 | 0 | - |
c.109G > A | Val37Ile | pathogenic | - | - | - | 7 | 3 | - |
c.176del16 | Frameshift mutation | pathogenic | - | - | - | 6 | 2 | - |
c.235delC | Frameshift mutation | pathogenic | - | - | - | 40 | 3 | - |
c.299delAT | Frameshift mutation | pathogenic | - | - | - | 12 | 2 | - |
c.504insAAGG | Frameshift | pathogenic | - | - | - | 2 | 0 | - |
c.608TC > AA | Ile203Lys | pathogenic | - | - | - | 2 | 0 | - |
c.35delG | Frameshift mutation | pathogenic | c.235delC | Frameshift mutation | pathogenic | 1 | 0 | - |
c.109G > A | Val37Ile | pathogenic | c.109G > A | Val37Ile | pathogenic | 8 | 0 | - |
c.176del16 | Frameshift mutation | pathogenic | c.176del16 | Frameshift mutation | pathogenic | 7 | 0 | - |
c.176del16 | Frameshift mutation | pathogenic | c.235delC | Frameshift mutation | pathogenic | 5 | 0 | - |
c.176del16 | Frameshift mutation | pathogenic | c.299delAT | Frameshift mutation | pathogenic | 3 | 0 | - |
c.235delC | Frameshift mutation | pathogenic | c.235delC | Frameshift mutation | pathogenic | 52 | 0 | - |
c.235delC | Frameshift mutation | pathogenic | c.299delAT | Frameshift mutation | pathogenic | 4 | 0 | - |
c.257C > G | Thr86Arg | pathogenic | c.605ins46 | Stop at aa 202 | pathogenic | 2 | 0 | - |
c.299delAT | Frameshift mutation | pathogenic | c.299delAT | Frameshift mutation | pathogenic | 12 | 0 | - |
c.79G > A | Val27Ile | polymorphism | - | - | - | 64 | 28 | - |
c.101 T > C | Met34Thr | polymorphism | - | - | - | 3 | 1 | - |
c.79G > A | Val27Ile | polymorphism | c.79G > A | Val27Ile | polymorphism | 49 | 13 | - |
c.79G > A | Val27Ile | polymorphism | c.341A > G | Glu114Gly | polymorphism | 9 | 1 | - |
c.341A > G | Glu114Gly | polymorphism | c.341A > G | Glu114Gly | polymorphism | 5 | 1 | |
c.341A > G | Glu114Gly | polymorphism | c.79G > A | |||||
c.341A > G | Val27Ile | |||||||
Glu114Gly | polymorphism | |||||||
polymorphism | 2 | 0 | - | |||||
c.79G > A | Val27Ile | polymorphism | c.368C > A | Thr123Asn | unknown | 11 | 3 | - |
c.608 T > C | Ile203Thr | polymorphism | c.608 T > C | Ile203Thr | polymorphism | 4 | 0 | - |
c.368C > A | Thr123Asn | unknown | - | - | - | 1 | 1 | - |
c.571 T > C | Phe191Leu | unknown | - | - | - | 4 | 0 | - |