Unweighted and weighted mean age at onset data for each mutational class, for families described in the four studies included in the meta-analysis
| Mean age at onset | ||||
|---|---|---|---|---|
| Mutational class | No of families | No of subjects | Unweighted years (SD) Range (years) | Weighted by family years (SD) |
| Frameshift+presumed exon skip | 4 | 25 | 28.91 (4.98) (<1–62) | 28.44 (5.02) |
| Missense | 18 | 69 | 24.88 (13.96) (<1–60) | 25.26 (11.31) |
| Splice site | 23 | 115 | 29.02 (9.63) (<1–60) | 29.56 (8.12) |
| Truncating | 30 | 147 | 29.98 (10.63) (<1–74) | 30.37 (10.63) |