Exon | Polymorphism | Effect | Heterozygous/ Homozygous | Patients (n = 28) |
1 | g.-52G>T | p.Arg6Arg | Heterozygous | 4 (14.2%) |
1 | c.101A>G | p.Arg34Arg | Homozygous | 12 (42.8%) |
1 | g.-117C>T | p.Phe39Phe | Heterozygous | 8 (28.5%) |
Homozygous | 1 (3.5 %) | |||
2 | c.288C>T | p.Ser96Ser | Heterozygous | 4 (14.2%) |
8 | c.954C>T | p.Ala318Ala | Heterozygous | 15 (53.5%) |
Homozygous | 9 (32.1%) | |||
8 | c.1038A>G | p.Leu346Leu | Heterozygous | 5 (17.8%) |