Mutation

Codon change

Number of alleles

Frequency (%)

c.35delG

Gly12Val fs

108

62.42

IVS1 + 1G > A

25

14.45

c.95G > A

Arg32His

18

10.4

c.224G > A

Arg75Gln

7

4

c.551G > C

Arg184Pro

5

2.8

c.380G > A

Arg127His

3

1.73

c.478G > A

Gly160Ser

2

1.15

c.138T > G

Asp46Glu

1

0.57

c.274G > T

Ala92Ser

1

0.57

c.229T > C

Trp77Arg

1

0.57

c.428G > A

Arg143Gln

1

0.57

c.71G > A

Trp24Ter

1

0.57

c.408C > A

Tyr136Ser

1

0.57

Total

173