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%)