Family |
Lod score (Zmax, θ=0) | Mutation | Exon | Effect |
MS62 | 0.8 | 4246 G-A | 2 | W47X (N-propeptide) |
MS11 | 2.1 | 4266 ins 4 bp | 2 | Frameshift: stop in exon 2 |
MS13 | 1.1 | 4269 del 2 bp | 2 | Frameshift: stop in exon 2 |
MS54 | Not analysed | 17189 del 1 bp | 21 | Frameshift: stop in exon 28 |
MS2 | 0.3 | 22314 C-T | 35 | R585X |
MS66 | 0.3 | 25671 ins C | 42 | Frameshift: stop in exon 42 |
MS20 | 1.1 | 25716 C-T | 42 | R732X |
MS18 | 0.5 | 25734 ins C | 42 | Frameshift: stop in exon 42 |
Zmax = maximum lod score, θ = recombination fraction.