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Summary of the variants analysis
| GENE mutation | ENG, n (%) | ACVRL1, n (%) |
|---|---|---|
| Patients, n | 36 | 77 |
| Sequencing method, n (%) | ||
| Sanger | 20 (55.5) | 45 (58.4) |
| NGS | 12 (33.3) | 26 (33.8) |
| Others | 4 (11.1) | 6 (7.8) |
| Variant type, n (%) | ||
| Nonsense | 10 (27.7) | 39 (50.6) |
| Frameshift | 13 (36.1) | 20 (25.9) |
| Splice-site | 4 (11.1) | 3 (3.9) |
| Missense | 9 (25) | 15 (19.4) |
NGS Next-generation sequencing
