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. 2018 May 10;102(6):1031–1047. doi: 10.1016/j.ajhg.2018.03.023

Table 1.

Mutation Frequency (the Number of Mutations per Subject) and the Relative Risks of Different Types of De Novo Mutations

Mutation Class Mutation Frequency Relative Mutational Exposure (%) Relative Risk Variance of ASD Liability Explained (100%)
Mis3 0.0175 12.5 4.70 0.83
Loss-of-function 0.00405 2.90 20.0 1.08
H3K27ac SNV (Gerp < = 2) 0.0839 59.9 1.54 0.24
H3K27ac SNV (Gerp > 2) 0.0164 11.7 3.42 0.46
Splicing SNV 0.0183 13.1 3.22 0.46