Figure 1.

Variant effect on splicing and splice site. (a) Distribution of splice‐altering variants and distribution of variants that affected either the splice acceptor site (SAS) or splice donor site (SDS) in the ABCA4 NCSS, ABCA4 DI, and MYBPC3 NCSS data set. (b, c) Plot of the number splice‐altering and nonsplice‐altering NCSS variants present at the SDS (+3 to +6, panel b) and SAS (−14 to −3, panel c) and the first or last two nucleotides of the exon and the number of variants found to affect splicing