Fig. 1
From: X-CAP improves pathogenicity prediction of stopgain variants
Stopgains are a sizable variant class. a The number of variants of each mutation type as a proportion of all DM (disease-causing) variants in HGMD 2020.1. Single base-pair stopgains are the third-largest class, trailing only missense variants and frameshift indels. b The prevalence of stopgains from Phase 3 of the 1000 Genomes Project (N=2504) as a function of their allele frequencies within the same dataset. The average individual in the dataset harbors 12.5 stopgains with an allele frequency of less than 1%