Comparison of the V104del mutation with other DFNA9 mutations
| Mutation | Genotype | Age of onset | Refolding of LCCL domain |
|---|---|---|---|
| *Present work. | |||
| V104del* | Heterozygous | 4th decade | Impaired* |
| I109N5 | Heterozygous | 2nd–3rd decade | − |
| V66G2 | Heterozygous | 2nd–3rd decade | Impaired7 |
| G88E2 | Heterozygous | 5th decade | Impaired7 |
| W117R2 | Heterozygous | 5th decade | Preserved7 |
| P51S3 | Heterozygous | 4th decade | Impaired7 |