Table 2.
Exon | DNA change | Mutation | Symptomatic carriers | Asymptomatic carriers | Total carriers |
4 | 2177 C > T (CGA→TGA) | Arg677Ter | 5 | 3 | 8 |
4 | 2204C > T (CAA→TAA) | Gln686Ter | 2 | 2 | 4 |
4 | 2263delA | Lys705fsX712 | 6 | 5 | 11 |
4 | 2313delAAinsG | Lys722fsX737 | 3 | 3 | 6 |
4 | 2403C > T (ACG→ATG) | Thr752Met* | 1 | - | 1 |
*This mutation does not appear to be pathogenic.