Table 2.
Effect | Na | Frequency |
---|---|---|
Frameshift | 9 | 21.4% |
In-frame deletion | 3 | 7.1% |
Missense | 25 | 59.5% |
Nonsense | 1 | 2.4% |
Splicing defect | 4 | 9.5% |
Total n = 42, 2 alleles per patient.
Effect | Na | Frequency |
---|---|---|
Frameshift | 9 | 21.4% |
In-frame deletion | 3 | 7.1% |
Missense | 25 | 59.5% |
Nonsense | 1 | 2.4% |
Splicing defect | 4 | 9.5% |
Total n = 42, 2 alleles per patient.