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 |