Table 2.
Details of GJB2 gene mutations investigated in mutation taster
| Site | Clinical significance | Exon | Nucleotide change | Variant type | Protein change | Patients homozygous | Patients heterozygous | Origin |
|---|---|---|---|---|---|---|---|---|
| Mutation taster | Pathogenic | 2 | c.35delG (rs80338939) | Deletion | frameshift | 4 (8.8%) | 4 (8.8%) | Germ line |
| Mutation taster | Pathogenic | 1 | c.23+1G>A (rs80338940) | Splice site | Non-coding | 4 (8.8%) | - | Germ line |
| Mutation taster | Pathogenic | 2 | c.299-300delAT (rs111033204) | Deletion | Frameshift (leading to a stop at Codon) | 1 (2.2%) | - | Germ line |