Compound heterozygotes detected
| Domain and mutation type | Genotype | Exon | 1st IRT | 2nd IRT |
| Transmembrane, missense | ||||
| ΔF508/P67L | 3 | 129 | 342-150 | |
| ΔF508/R117H | 4 | 110 | 212-150 | |
| ΔF508/R117H | 4 | 84 | 34 | |
| ΔF508/R117H | 4 | 95 | 39 | |
| ΔF508/R117H | 4 | 104 | 40 | |
| ΔF508/R117H | 4 | 146 | 41 | |
| ΔF508/R117H | 4 | 104 | 482-150 | |
| ΔF508/R117H | 4 | 120 | 53 | |
| ΔF508/R117H | 4 | 111 | 54 | |
| ΔF508/R117H | 4 | 175 | 722-150 | |
| ΔF508/R117L | 4 | 129 | 70 | |
| ΔF508/L967S | 15 | 122 | 15 | |
| ΔF508/F1052V | 17b | 189 | 29 | |
| ΔF508/R1066H | 17b | 94 | 18 | |
| Transmembrane, nonsense | ||||
| ΔF508/R75X | 3 | 86 | 26 | |
| ΔF508/R75X | 3 | 171 | 27 | |
| ΔF508/R851X | 14a | 112 | 76 | |
| Regulatory, missense | ||||
| ΔF508/F693L | 13 | 109 | 29 | |
| Alternate splice site | ||||
| ΔF508/3849+10KB C→T | i19 | 99 | 262-150 | |
| ΔF508/3849+10KB C→T | i19 | 112 | 362-150 |
None of these samples had the IVS8-5T variant sequence.
↵2-150 These patients have presented with symptoms of lung involvement.