The CFTR genotypes and clinical details for a panel of 31 atypical CF patients from Northern Ireland
| Patient | CFTR mutations | Tn genotype1-150 | Sex/age (y) | Sweat chloride1-151 | Bacterial infection1-152 | Pancreatic status1-153 | Shwachman score3 | FEV1%1-154 |
| 1 | ΔF508/R75Q + 5T | 9/(11) 5 | M/32 | 93 | PA | PI | 18/25 | 80 |
| 2 | ΔF508/R117H + 5T | 9/(12) 5 | M/9 | 74 | HI | PI | 21/25 | 90 |
| 3 | ΔF508/R75Q | 9/7 | F/32 | 65 | n | PS | 23/25 | 92 |
| 4 | ΔF508/5T | 9/(11) 5 | M/7 | 83 | n | PS | 24/25 | — |
| 5 | ΔF508/U | 9/7 | F/23 | 81 | HI | PS | 19/25 | 87 |
| 6 | ΔF508/U | 9/7 | F/11 | 63 | n | PS | 23/25 | 103 |
| 7 | ΔF508/U | 9/7 | F/24 | 103 | PA | PI | 13/25 | 66 |
| 8 | ΔF508/U | 9/7 | F/13 | 83 | n | PS | 18/25 | 81 |
| 9 | R75Q/U | 7/7 | F/20 | 117 | HI | PI | 20/25 | 88 |
| 10 | R75Q/U | 7/7 | M/6 | 84 | HI | PS | 19/25 | — |
| 11 | R75Q/U | 7/7 | M/33 | 96 | n | PI | 21/25 | 86 |
| 12 | S1235R/U | x/x | F/18 | 69 | HI | PI | 24/25 | 90 |
| 13 | S1235R/U | 7 or 9/7 or 9 | M/22 | 76 | n | PI | 20/25 | 119 |
| 14 | R117H + 5T/U | (12) 5/7 | M/17 | 91 | PA | PI | 20/25 | 77 |
| 15 | R297Q + 5T/U | (11) 5/7 | F/14 | 62 | n | PI | — | — |
| 16 | 5T/U | (11) 5/7 | M/13 | 79 | n | PI | 21/25 | 75 |
| 17 | 5T/U | (12) 5/7 | F/20 | 74 | n | PS | 22/25 | 100 |
| 18 | 5T/U | (11) 5/7 | M/28 | 55 | n | PI | 19/25 | 68 |
| 19 | U/U | 7/7 | M/8 | 58 | HI | PS | 19/25 | 94 |
| 20 | U/U | 7/9 | M/26 | 74 | n | PS | 23/25 | 106 |
| 21 | U/U | 9/7 | M/8 | 55 | HI | PS | 22/25 | — |
| 22 | U/U | 7/7 | M/8 | 77 | n | PS | 21/25 | — |
| 23 | U/U | 7/9 | M/12 | 58 | HI | PI | 21/25 | 92 |
| 24 | U/U | 7/7 | M/12 | 61 | n | PI | 19/25 | 91 |
| 25 | U/U | 7/7 | M/21 | 72 | n | PS | 22/25 | 96 |
| 26 | U/U | 7/7 | F/7 | 89 | n | PI | 21/25 | 87 |
| 27 | U/U | 7/7 | M/8 | 65 | n | PS | 23/25 | — |
| 28 | U/U | 7/7 | F/15 | 78 | HI | PI | 20/25 | 76 |
| 29 | U/U | 7/7 | F/28 | 111 | PA | PI | 16/25 | 72 |
| 30 | U/U | 9/7 | M/10 | 84 | n | PS | 20/25 | 81 |
| 31 | U/U | 9/7 | M/9 | 66 | n | PI | 22/25 | 93 |
↵1-150 The number of TG repeats (IVS8GT) upstream of the Tn tract is given in brackets only before a T5 score as their number can modulate alternative splicing only when this is activated by the T5 allele.16 U = unknown (no mutation detected), M = male, F = female, x = uncharacterised.
↵1-151 High sweat levels, diagnostic of CF, are those above 70 mmol/l chloride, borderline levels are 40–70 mmol/l, and normal levels are below 40 mmol/l.17 In the atypical cohort, 20 patients have high sweat levels and 11 have borderline values.
↵1-152 HI = Haemophilus influenza, PA =Pseudomonas aeruginosa, n = no bacterial growth detected.
↵1-153 PI = pancreatic insufficient, PS= pancreatic sufficient.
↵1-154 FEV1/FVC % = forced expiratory volume in one second / forced vital capacity, as a percentage. — = no value available.