Patient | Exon | bp | Codon | Mutation | Predicted effect |
---|---|---|---|---|---|
5 | 7 | 308 | 1016 | GAT → AAT | Asp → Asn |
9 | 14 | 740 | 2218 | CCC → TCC | Pro → Ser |
10 | 6 | 262–265 | 786–794 | 9 bp deletion | Early stop |
11 | 15 | 774 | 2321 | AGG → AAG | Arg → Lys |
13 | 7 | 286 | 856 | GCC → ACC | Ala → Thr |
298 | 893 | GCC → GAC | Ala → Asp | ||
14 | 6 | 255 | 763 | CAG → TAG | Gln → Stop |
16 | 6 | 245 | 734 | CCA → CTA | Pro → Leu |
257 | 770 | GAC → GGC | Asp → Gly | ||
21 | 16 | 851 | 2552 | TCA → TTA | Ser → Leu |