Fig. 4.

Pathogenic AG-gain variants scored by SpliceAI and population AG-gain variants in gnomAD. (A) Evaluation of published pathogenic AG-gain variants by computing their SpliceAI scores for acceptor gains and losses. The variants that created new acceptor sites are highlighted in red, and the variants that resulted in complete exon skipping are highlighted in green. (B) AGAIN score versus the maximum SpliceAI score (acceptor gain or loss). (C) Search for intronic AG-gain variants in the human population. (D) Location of AG-gain variants to the canonical acceptor sites, in gnomAD v2 and v3.