Table 2. Prediction scores of canonical (c.439) and cryptic splice site (c.439-17) by five prediction algorithms due to the variant c.439-17G>A in CDHR1 gene.
Canonical acceptor site (c.439) | Cryptic acceptor site (c.439-17) | ||
---|---|---|---|
SpliceSiteFinder-like | 80.5 | Not predicted | |
MaxEntScan | 8.2 | Not predicted | |
Reference | NNSPLICE | 0.7 | Not predicted |
GeneSplicer | 5.7 | Not predicted | |
Human Splicing Finder | 89.6 | Not predicted | |
SpliceSiteFinder-like | 80.5 | 71.8 | |
MaxEntScan | 6.5 | 9.2 | |
Mutant | NNSPLICE | 0.8 | 0.7 |
GeneSplicer | 3.8 | 8.1 | |
Human Splicing Finder | 89.6 | 83.2 |