Table 2.
Variations Identified by Retina-Array before and after Validation by Dideoxy Sequencing
| Variations | Missense | Silent | Nonsense | Splice Site | 5′ UTR | Total (%) |
|---|---|---|---|---|---|---|
| All | ||||||
| Known SNP | 50 | 69 | 0 | 11 | 1 | 131 (42.1) |
| Novel variation | 104 | 55 | 4 | 10 | 0 | 173 (56.9) |
| Total (%) | 154* (50.7) | 124* (40.8) | 4 (1.3) | 21* (6.9) | 1 (0.3) | 304* |
| Unique | ||||||
| Known SNP | 37 | 36 | 0 | 6 | 1 | 80 (33.9) |
| Novel variation | 91 | 51 | 4 | 10 | 0 | 156 (66.1) |
| Total (%) | 128 (54.2) | 87 (36.9) | 4 (1.7) | 16 (6.8) | 1 (0.4) | 236 |
| Selected for validation (confirmed/ not confirmed) | ||||||
| Known SNP | 45/0 | 7/0 | 0/0 | 4/0 | 1/0 | 57/0 |
| Novel variation | 47/43 | 14/0 | 2/2 | 3/6 | 0/0 | 66/51 |
| Total (%) | 135* (77.6) | 21* (12.1) | 4 (2.3) | 13 (7.5) | 1 (0.6) | 174 |
*
Some variations were detected in multiple DNA samples.