Table 1.
Mutation | International Name (HGVS) | Frequency (%) |
---|---|---|
β-39 | c.118C>T | 95.7 |
β-6 | c.20delA | 2.2 |
β-76 | c.230delC | 0.7 |
β I-110 | c.93-21G>A | 0.5 |
β II-745 | c.316-106C>G | 0.4 |
β-87 | c.-137C>A,G,T | 0.2 |
β I-6 | c.92+6T>C | 0.2 |
β II -1 | c.315+1G>C,A,T | 0.1 |
β I -1 | c.92+1G>T,A | 0.03 |