Table 4.
Summary of prediction of skipping events by SpliceAid2/HSF
| No. | Exon | Mutation | Skipping rate in minigene | ESE disruption | ESS creation | Other motif |
|---|---|---|---|---|---|---|
| 3 | 9 | c.883C > T | 0.15 | − | + | |
| 4 | 9 | c.899_903CCTAC > TCTAG | 0.08 | − | + | |
| 5 | 25 | c.3295C > T | 0.12 | + | + | |
| 6 | 25 | c.3304C > T | 0.98 | + | + | |
| 7 | 25 | c.3337C > T | 0.14 | + | + | |
| 9 | 25 | c.3430C > T | 0.73 | + | + | Disrupt wt donor site |
| 12 | 27 | c.3613G > T | 0.65 | + | + | |
| 13 | 31 | c.4294C > T | 0.34 | + | + | |
| 14 | 31 | c.4327C > T | 0.3 | + | + | |
| 19 | 38 | c.5371C > T | 0.09 | − | + | |
| 20 | 38 | c.5407C > T | 0.21 | − | + | |
| 24, 25 | 41 | c.5899C > T | 0.13 | + | + | |
| 28 | 74 | c.10402G > T | 0.12 | + | − | |
| 30 | 74 | c.10453_10454delCT | 0.05 | + | − |