Fig. 4

SpliceAI-visual predictions (IGV interface, MobiDetails) for PMS2 short intronic variants: (A) NM_000535.7:c.1970_2006+9dup, (B) NM_000535.7:c.538-5_538-4del, (C) NM_000535.7:c.354-18_354-15dup. REF—reference (wild-type) score, ALT—alternative (variant) score. Vertical blue bars signify donor sites and orange bars signify acceptor sites