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In silico prediction scores of the c.6480-35A>G variant. Schematic representation of the intron 47–exon 48 boundary sequence of ABCA4, branchpoint, and splice prediction in the wild-type (WT; upper panel) and c.6480-35A>G (MUT; lower panel) situation. The branchpoint algorithm predicts the abolishment of the branchpoint. SpliceAI predicts a 0.47 increase in the probability of activation of a cryptic acceptor site in intron 47 (47 nt upstream of the canonical acceptor site).
