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| Candidate variants | Score (0–4) | Effect on mRNA processing | Effect on protein |
|---|---|---|---|
| c.2310+5G>A | 4 | Exon skipping | p.His738_Asp770del |
| c.17779_17780delTA | 3 | No effect on splicing | p.Tyr5927HisfsX17 |
| c.11086A>C | 1 | No effect on splicing | p.Thr3696Pro |
