Table 1 Counts of de novo mutations in RB1 ascertained from RB patients, and singleton variants identified in ExAC from (non-Finnish) Europeans for various subtypes
From: De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
Variant Type | RB de novo mutations | ExAC singletons |
|---|---|---|
Overall | 268 | 149 |
Nonsense | 150 | 1 |
Missense | 27 | 56 |
Essential Splice | 86 | 1 |
Intronic | 5 | 91 |