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Splice site mutation predictions with the usage of Alamut bioinformatics algorithms. SSF- SpliceSiteFinder-like; HSF- Human Splicing Finder; – no data.
| Variant | Alamut bioinformatics algorithms | Interpretation | ||||
|---|---|---|---|---|---|---|
| SSF | MaxEntScan | NNSPLICE | GeneSplicer | HSF | ||
| c.782 + 2 T > A | 100% | 100% | 100% | 100% | 100% | Broken WT Donor Site, most probably affecting splicing |
| c.953-5A > G | — | 61% | — | 46% | <1% | Broken WT Acceptor Site, most probably affecting splicing |
