Fig. 5. Distribution of IRAVs in genes with frequent IRAVs.

a, c, d Frequencies of putative pathogenic IRAVs for each pathogenic tier at each splice-site are shown in a TP53, c NF1, and d SMARCA4. b The catalog of IRAVs at the TP53 exon 4 donor site identified in this study. All substitution patterns at the essential splice site, the last exonic base, and the 5th intronic base were covered, as well as several deletions.