The CFTR mutations identified in 73 unrelated IB patients
| Mutation | No of alleles | Consequence |
|---|---|---|
| K68E | 9 | Lys to Glu at 68 |
| −33G>A | 7 | Promoter mutation |
| N1303K | 6 | Asn to Lys at 1303 |
| CFTRdele19 | 4 | Deletion of exon 19 |
| Frameshift | ||
| 3272-26A>G | 3 | mRNA splicing defect |
| CFTRdele2,3 | 2 | Deletion of exons 2 and 3 |
| Frameshift | ||
| F1052V | 1 | Phe to Val at 1052 |
| E1228G | 1 | Glu to Gly at 1228 |
| W1282X | 1 | Trp to Stop at 1282 |
| Total alleles | 34 |