Table 4.
Wild type (%) |
Homozygous (%) |
Heterozygous (%) |
||
---|---|---|---|---|
Mutations founded | Y179C (exon 7) | 96.4 (79/82) | 1.2 (1/82) | 2.4 (2/82) |
G396D (exon 13) | 92.7 (76/82) | 1.2 (1/82) | 6.1 (5/82) | |
E410GfsX43 (exon 13) | 95.1 (78/82) | 0.0 (0/82) | 4.9 (4/82) | |
R426C (exon 13) | 97.6 (80/82) | 0.0 (0/82) | 2.4 (2/82) | |
V232F (exon 9) | 98.8 (81/82) | 0.0 (0/82) | 1.2 (1/82) | |
V22M (exon 2) | 98.8 (81/82) | 0.0 (0/82) | 1.2 (1/82) | |
R354GfsX40 (exon 12) | 98.8 (81/82) | 0.0 (0/82) | 1.2 (1/82) | |
Polymorphism tested | G338H (exon 12) | 76.8 (63/82) | 0.0 (0/82) | 23.2 (19/82) |