Table 1.
Mutation | Mutation type | N | % |
---|---|---|---|
Homozygous | M694V, R202Q, M680I(G/C), E148Q | 34 | 21.6 |
Heterozygous | M694V,R202Q,E148Q,V726A,A744S, M680I(G/C), K695R, R761H, P369S | 68 | 44.6 |
Compound heterozygous | M694V/R202Q, E148Q/V726A, M694V/M680IG/C), M694V/E148Q, M680I(G/C)/V726A, R202Q/V726A, M694V/V726A, M694V/R761H, M694V/P369S, R202Q/E148Q | 43 | 28.3 |
Wild type | 8 | 5.3 |