Fig. 2

Participant outcomes for rare disease probands with de novo splicing variants in known monoallelic loss-of-function rare disease genes. Each point represents a DNV in a rare disease proband. Points are coloured by the clinical outcome for that individual. Crosses indicate variants which were identified as likely new diagnoses in this study. Where a variant overlaps both a branchpoint and a splice acceptor position, only the splice acceptor annotation is given