| COL1A1 | |||||
|---|---|---|---|---|---|
| OI 1 | OI 2 | OI 3 | OI 4 | Total | |
| Frameshift | 15 | – | – | – | 15 |
| Nonsense | 10 | – | – | – | 10 |
| Splicing | 9 | – | 3 | 1 | 13 |
| Missense | 1 | 3 | 20 | 6 | 30 |
| Total | 35 (52%) | 3 (4%) | 23 (34%) | 7 (10%) | 68 |
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