Patient | Location | Base change | Protein change | Polyphen prediction | SIFT prediction |
1 | Intron 2 | c.79-13T>A | Potential frameshift (c.78_79ins23) | Not applicable | Not applicable |
2 | Exon 5 | c.320-1_320delGGinsTA | Destruction of normal exon 4/exon 5 splicing | Not applicable | Not applicable |
3 | Exon 5 | c.328G>A | p.(Val110Met) | Probably damaging | Deleterious |
4 | Exon 5 | c.353C>T | p.(Thr118Met) | Probably damaging | Deleterious |
5 | Exon 5 | c.353C>T | p.(Thr118Met) | Probably damaging | Deleterious |
6 | Exon 5 | c.392C>G | p.(Ser131Cys) | Possibly damaging | Deleterious |
7 | Exon 5 | c.395A>G | p.(Tyr132Cys) | Possibly damaging | Deleterious |
8 | Exon 5 | c.434delT | Frameshift | Not applicable | Not applicable |
9 | Exon 5 | c.469C>T | p.(Arg157Trp) | Probably damaging | Deleterious |