Figure 2.

The aggregate estimates of penetrance of loss-of-function variants are high for specific genes

The plot depicts estimated penetrance and 95% confidence interval of HCM-associated (A) and DCM-associated (B) rare variants. Predicted loss-of-function (pLoF) and non-pLoF variant groups are plotted in green and blue, respectively. ^∗, TTNtvs that are PSI > 90%. Pathogenic TNNT2 inframe deletions caused an increased penetrance signal for inframe deletions for both HCM and DCM (see Figure S12). PTC, premature termination codon; PAV, protein-altering variant; NMDc/NMDi, nonsense mediated decay competent/incompetent.