Table 2.
Mutation | Genotype | n (%) |
---|---|---|
Homozygote genotypes | M694V/M694V | 10 (35.7) |
E148Q/E148Q | 3 (10.7) | |
M680I/M680I | 3 (10.7) | |
P369S/P369S | 1 (3.6) | |
Compound heterozygote genotypes | M694V/E148Q | 4 (14.3) |
M680I/V726A | 4 (14.3) | |
M694V/P369S | 1 (3.6) | |
M694V/V726A | 1 (3.6) | |
E148Q/M680I | 1 (3.6) |