Protein-truncating variants of 19,973 Chinese in 1320 targeted genes. (A) Allele frequency spectrum of known and novel PTVs. (B) Venn diagram of PTVs in the Chinese (CHN, n = 19,973), ExAC (n = 60,706), and East Asian (EAS-ExAC, n = 4327) population in 1320 genes. (C) Allele frequency comparisons of 892 overlapped PTVs between CHN and EAS-ExAC. The inset shows those of PTVs with a maximum allele frequency of 1%. (D–F) Individual level summary of PTVs in variant types (D), genotypic composition (E), and consequence (F). (G) Number of pPTVs per individual in heterozygous and homozygous genotypes. (H) Relative proportions of pPTVs in heterozygous and homozygous genotypes. (I) Number of PTVs and pPTVs per individual in singletons and doubletons.
