Table 3 Comparison of the observed number of essential donor splice-site de novo mutations at exons 6, 12, and 5 to the simulated frequency predicted by our sequence context model
From: De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
Location | 99% CI of simulation | Observed variants | Empirical P | LOVD count |
|---|---|---|---|---|
Exon 6 (G → C) | [0, 2] | 3 | 3 × 10−4 | 40 |
Exon 6 (G → A) | [0, 4] | 9 | <10−6 | |
Exon 12 | [0, 10] | 13 | 4 × 10−4 | 67 |
Exon 5 | [1, 12] | 0 | 3 × 10−3 | 2 |