Fig. 4

(Left) Pie chart showing the breakdown of variant types in a large cohort of families with suspected Mendelian disorders. (Right) Pie chart showing the distribution of all identified transcript-deleterious variants identified across the entire cohort. Classes a, b, c, d, e, and f represent the first or last 2 bp of introns, the first or last 1 bp of exons, non-canonical splice site intronic variants, non-canonical splice site exonic variants, UTR (5′ and 3′), and promoter variants, respectively.