From: Comprehensive genetic characteristics of dystrophinopathies in China
Mutation type | De novo | Hereditary | Total | Carrier rate |
---|---|---|---|---|
deletion | 115 | 171 | 286 | 0.60 |
duplication | 6 | 36 | 42 | 0.86 |
nonsense | 16 | 57 | 73 | 0.78 |
small del | 5 | 15 | 20 | 0.75 |
small ins | 0 | 3 | 3 | 1.00 |
splice site | 2 | 13 | 15 | 0.87 |
missense | 1 | 2 | 3 | 0.67 |
Total | 145 | 297 | 442 | 0.67 |