GJB2 mutations in Japanese
| Codon | Nucleotide change |
Affected (70 alleles) |
Control (192 alleles) | Mutation type |
| V27I | 79G→C | — | 75 | Polymorphism |
| V37I | 109G→A | 1 | 2 | Missense |
| G45E | 134G→A | 1 | 0 | Missense1-150 |
| 59 | 176-191del16 | 1 | 0 | Frameshift1-150 |
| 79 | 235delC | 10 | 2 | Frameshift1-150 |
| 100 | 299-300delAT | 1 | 0 | Frameshift1-150 |
| E114G | 341A→G | — | 25 | Polymorphism |
| Y136X | 408C→A | 3 | 0 | Nonsense1-150 |
| R143W | 427C→T | 4 | 0 | Missense |
| I203T | 608T→C | — | 16 | Polymorphism |
— The number of alleles of affected subjects was made up of 10 families with two affected sibs plus 25 families with one affected which is equal to 45 subjects or 90 alleles. However, since two sibs are counted as one, the number of alleles would be 70 (35 families). The number of polymorphic alleles (V27I, E114G, I203T) are not included here because sibs have different genotypes.
↵1-150 Novel mutations.