Table 1.
Genes with greater than one de novo SNV mutation in this cohort of 264 trios, and the probabilities of getting greater than or equal observed de novo mutation tally by chance.
| Gene | Chr | Average effectively captured length (bp) | Weighted mutation rate | De novo mutation number | p-value† | |
|---|---|---|---|---|---|---|
|
| ||||||
| SCN1A | 2 | 6063.70 | 1.61×10−4 | 5* | 1.12×10−9 | *** |
| STXBP1 | 9 | 1917.51 | 6.44×10−5 | 5 | 1.16×10−11 | *** |
| GABRB3 | 15 | 1206.86 | 3.78×10−5 | 4 | 4.11×10−10 | *** |
| CDKL5 | X | 2798.38 | 5.44×10−5 | 3 | 4.90×10−7 | ** |
| ALG13# | X | 475.05 | 1.03×10−5 | 2 | 7.77×10−12 | *** |
| DNM1 | 9 | 2323.37 | 9.10×10−5 | 2 | 2.84×10−4 | |
| HDAC4 | 2 | 2649.82 | 1.16×10−4 | 2 | 4.57×10−4 | |
| SCN2A# | 2 | 5831.21 | 1.52×10−4 | 2 | 1.14×10−9 | *** |
| SCN8A | 12 | 5814.48 | 1.64×10−4 | 2 | 9.14×10−4 | |
†
Adjusted α is equivalent to 0.05/18,091 = 2.76×10 (*), 0.01/18,091 = 5.53×10 (**) and 0.001/18,091 = 5.53×10−8 (***).
*
Counts exclude three additional patients with an indel or splice site mutation as these are not accounted for in the mutability calculation.
#
Two de novo mutations occur at the same position. The probability of these special cases obtain P = 7.77×10−12 and P = 1.14×10−9 for ALG13 and SCN2A, respectively (Additional Methods).