Table 2.
Predicted Effect of GUCY2D Variants
| 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.
Predicted Effect of GUCY2D Variants
| 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.