Fig. 3

The number and mutational pattern of pre-zygotic and post-zygotic de novo mutations in MdnCNV families (blue) versus controls (orange). a The VAF distribution of de novo substitutions in MdnCNV (blue) and control (orange) families. b The proportion of DNMs that are predicted to be post-zygotic mutations (dark orange/blue). c The number of pre-zygotic (germline) mutations is positively correlated with paternal age. The gray area denotes the region covered by the 95% confidence interval of the slope and intercept of the linear regression lines. d The number of post-zygotic mutations shows no correlation with age