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| Patient | Sequence Variant (NEB, NM_001271208.1) | Type of Splice Site | NetGene2 | HSF | NNSplice | Splice View | Score |
|---|---|---|---|---|---|---|---|
| 4 | c.2310+5G>A | Donor | + | + | + | + | 4 |
| 1, 4 | c.17779_17780delTA (p.Tyr5927HisfsX17) | Acceptor | + | + | + | - | 3 |
| 1 | c.11086A>C (p.Thr3696Pro) | Acceptor | - | + | - | - | 1 |
Potential alteration of splicing is symbolized by (+). Neutral-effect predictions are symbolized by (-).
