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Classification of JAG1 and NOTCH2 Mutations Identified in the Study Cohort (n = 196)
| Classification | JAG1 (n = 187) | NOTCH2 (n = 9) |
|---|---|---|
| Insertion/deletion | 70 (37%) | 2 (22%) |
| Missense | 35 (19%) | 5 (56%) |
| Nonsense | 48 (26%) | 1 (11%) |
| Splice site | 18 (10%) | |
| Whole/partial gene deletion | 4 (2%) | |
| Other | 11 (6%) | |
| Missing | 1 (1%) | 1 (11%) |
