Fig. 1. Reference database of variants activating a cryptic-donor.

a Schematic of the cryptic-donor database. E = Exon, D = Donor. See methods. b Three categories of cryptic-donor variants in the database: Annotated-Modified (AM-variants), Cryptic-Modified (CM-variants) and Annotated-Modified and Cryptic-Modified (AM/CM-variants). c–e Characteristics of AM-variants (n = 2186, orange). Positions of AM (c) Single Nucleotide Variants (SNVs), insertions and (d) deletions relative to the annotated-donor. In (d) each of the horizontal bars represents one deletion variant showing the position and width of each deletion relative to the annotated-donor. e The number of cryptic-donors activated by each AM-variant. f–g Characteristics of CM-variants (n = 2255; green). f Positions of CM SNVs and insertions relative to the cryptic-donor. g Frequency of SNVs resulting in cryptic activation, highlighting the prevalence or GC > GT D⁺² variants. h–j Characteristics of AM/CM-variants (n = 373, blue). h, i As in f, g. j As in d.