Table 3. Analysis of exome variants using genomic evolutionary rate profiling.
The number of genes with at least a single novel variant with an rejected substitution (RS) score10 > 0 in at least x individuals is given. A gene rank is assigned based on the average GERP score9 over all observed novel variants with RS score > 0 in all affected individuals.
| c. GERP Score analysis (at least x of 10) | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
|---|---|---|---|---|---|---|---|---|---|---|
| Variant RS score > 0 | 7,176 | 2,360 | 754 | 269 | 106 | 39 | 20 | 11 | 3 | 1 |
| MLL2 Rank | 3,732 | 1,232 | 399 | 136 | 47 | 14 | 6 | 3 | NA | NA |