Figure 1
Proportion of individuals with rare variants in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in combined clinical cohorts (data from Oxford Medical Genetics Laboratory and Laboratory of Molecular Medicine) compared with Exome Aggregation Consortium (ExAC) data (gray columns). Variants counted were single-nucleotide changes or small insertion/deletion variants detected in the coding region ±2 bp, with an ExAC minor allele frequency of <1 × 10−4 (see Methods). Clinical cohorts: HCM, n = 632 to 6,179 and DCM, n = 121 to 1,315 (see Table 1, Supplementary Table S5a,b online). Information on reported pathogenicity class (red = pathogenic (P), orange = likely pathogenic (LP), yellow = variant of uncertain significance (VUS)) is overlaid. See Supplementary Tables S1, S4a,b online for full details. ^ = genes analyzed in fewer than 200 cases. ExAC: n = mean of total adjusted allele count for rare variant carriers. For HCM genes, n ranged from 47,153 to 60,647; for DCM genes, n was 42,697 to 60,647 (see Supplementary Table S5a,b online). CTF1 and RBM20 were removed from analysis due to poor coverage in ExAC.
