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. Author manuscript; available in PMC: 2019 Feb 7.
Published in final edited form as: Hum Genet. 2018 Feb 7;137(2):183–193. doi: 10.1007/s00439-018-1871-6

Table 4.

Comparison of mosaic variants in CHD trios and controls

Parameter Cases (n = 669) #/Sample Controls (n = 416) #/Sample p value
Deleterious CADD C score 23 0.034 14 0.034 0.560
High heart expression [HHE] genes 17 0.025 5 0.013 0.339
Deleterious CADD C + HHE 7 0.010 3 0.007 1.000
Missense 23 0.034 13 0.031 0.696
Nonsense/splice 5 0.007 3 0.007 1.000
Synonymous 17 0.025 7 0.016 0.817
Intronic 47 0.070 28 0.067 0.345
Regulatory 33 0.049 12 0.029 0.364