Haplotypes defined for 62 atypical CF alleles and their associated CFTR variants
| Mutation | No of alleles | Atypical CF frequency2-150(%) | CF frequency2-151(%) | Normal frequency2-152(%) | Haplotype2-153 8CA-Tn-17bTA-17bCA | |||||
| ΔF508 | 8 | 12.9 | 68 | 2 | 23-9-31-13 (4) | |||||
| 23-9-32-13 (2) | ||||||||||
| 21-9-31-13 (1) | ||||||||||
| 17-9-31-13 (1) | ||||||||||
| 5T | 8 | 12.9 | 3.4 | 7.1 | 17-5-07-17 (3) | |||||
| 16-5-30-13 (2) | ||||||||||
| 16-5-07-17 (2) | ||||||||||
| 16-5-29-13 (1) | ||||||||||
| R75Q | 5 | 8.1 | 0 | 1 | 16-7-46-13 (3) | |||||
| 16-7-31-13 (1) | ||||||||||
| 17-5-07-17 (1) | ||||||||||
| R117H | 2 | 3.2 | 4.1 | 1 | 16-5-30-13 (2) | |||||
| S1235R | 2 | 3.2 | 0 | 0 | 17-7/9-31-13 (2) | |||||
| R297Q | 1 | 1.6 | 0 | 0 | 17-5-07-17 (1) | |||||
| Not known | 40 | 64.5 | 5.6 | — | 16-7-30-13 (7) | |||||
| 16-7-07-17 (5) | ||||||||||
| 16-7-32-13 (5) | ||||||||||
| 16-7-44-13 (2) | ||||||||||
| 17-7-07-17 (2) | ||||||||||
| and one each of: 16-7-07-13, 16-7/9-07-17, 16-7-21-19, 16-7-24-13, 16-7-29-13, 16-7-31-13, 16-7-31-14, 16-9-32-13, 16-7-33-13, 16-7-34-13, 16-7-35-13, 16-7-37-13, 16-9-44-13, 16-7-46-13, 16-7-47-13, 17-9-43-13, 17-7-54-11, 20-9-30-13, not typed (1) | ||||||||||
↵2-150 Frequency of the variant in the panel of 62 atypical CF chromosomes.
↵2-151 Frequency of the variant in 412 chromosomes from 206 Northern Irish CF patients.
↵2-152 Frequency of the variant in 200 normal chromosomes from Northern Ireland.
↵2-153 The figures in brackets after each haplotype denote the number of atypical alleles found with that particular haplotype.