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Fig. 5 | Genome Medicine

Fig. 5

From: Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Fig. 5

Distribution of rare variants in CPVT and ExAC cohorts for RYR2. All rare RYR2 non-truncating (missense and single amino acid inframe indel variants) variants in 1355 CPVT cases (well-phenotyped and referral) and ExAC are shown alongside a cartoon of the cDNA structure. Darker grey indicates higher variant density (overlapping variants not plotted separately). Three regions enriched for disease-associated variation were identified (shown in red)—residues 2138–2538, 3935–4196 and 4721–4959. Exons used in previously defined hotspot regions (original 41 exons and refined 21 exons) are highlighted as shown

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