Figure 1.

Schematic demonstrating assignment of gene-specific codes to canonical splice sites based on a modified version of the PVS1 framework proposed by Abou Tayoun et al., 2018.² It is important to note that each PVS1 assigned weight may be reduced if there is evidence of potential rescue mechanisms. For example, skipping of either exon 4 or 7 may lead to a protein that retains partial function. Annotating gene-specific lists of naturally occurring splicing events can provide greater evidence of potential ‘rescue’ isoforms. Also see Supplemental Information, Box S1, Biologically relevant transcripts and the rescue transcript model.