Fig. 2.

Functional impact of MNVs. a The number of MNVs in the gnomAD exome data set per MNV category. Of the 1821 rescued nonsense mutations, 1538 are rescued in all individuals that harbor the original nonsense mutation and are used for the analysis in (b) and (c). Gained and rescued nonsense MNVs were further filtered to HC pLoF in (b) and (c). b The number of gained/rescued nonsense mutations per gene, and examples of disease-associated genes with two or more gained/rescued nonsense mutations. c The fraction of each category of MNV found in a set of 3941 constrained genes (top two deciles of constraint²²)