Fig. 3.

The delta score pitfall: SETD5 poison exon retention caused by an intronic substitution. RNAseq and SpliceAI-visual outputs displayed in IGV. Above: SpliceAI RS for the reference allele of SETD5, along with one control individual; below: SpliceAI RS for the pathogenic deep intronic variant NM_001080517.3:c.2476 + 198A > C, along with RNAseq of patient 1. Orange: acceptor site prediction; Blue: donor site prediction. The variant position is pointed out with a dashed line. Although the variant A > C is heterozygous, 95% of RNAseq reads carry the C, suggesting the causative role of this allele in the retention