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. 2016 Sep 8;5:e20125. doi: 10.7554/eLife.20125

Table 2.

Probability of observed de novo mutations in SMAD6 and Sprouty genes occurring by chance in 132 subjects using gene-specific mutation probabilities.

DOI: http://dx.doi.org/10.7554/eLife.20125.011

Gene(s) Mutations Number of observed mutations Number of expected mutations p value
SMAD6 Loss of function 2 0.00026 3.31 × 10−8
SMAD6 Missense 1 0.0046 4.67 × 10−3
SPRY1, SPRY2, SPRY3, SPRY4 Nonsense, splice site, frameshift 2 0.001193 7.11 × 10−7

Probabilities calculated from the Poisson distribution using DenovolyzeR. The probability of observing at least 2 LOF and 1 missense mutation in SMAD6 was 3.6 ×10−9 via Fisher’s method.