Table 1.
CF cohort–ten most frequently encountered CFTR mutations.
| Mutation | Nucleotide Change | Legacy Name | refSNP | Variant Type | Cohort Proportion |
|---|---|---|---|---|---|
| p.Phe508del | c.1521_1523del | F508del | rs113993960 | Deletion (3 nucleotides) | Homozygote—141 (43.8%) |
| Heterozygote—157 (48.8%) | |||||
| p.Gly551Asp | c.1652G>A | G551D | rs75527207 | Missense—risk allele A | Homozygote—2 (0.6%) |
| Heterozygote—31 (9.6%) | |||||
| p.Arg177His | c.350G>A | R117H | rs78655421 | Missense—risk allele A | Heterozygote—20 (6.2%) |
| p.Gly543X | c.1624G>T | G542X | rs113993959 | Nonsense—risk allele T | Heterozygote—11 (3.4%) |
| p.Asn1303Lys | c.3909C>G | N1303K | rs80034486 | Missense—risk allele G | Heterozygote—8 (2.5%) |
| p.Ala455Glu | c.1364C>A | A455E | rs74551128 | Missense—risk allele A | Heterozygote—6 (1.9%) |
| p.? | c.489+1G>T | 621+1G>T | rs78756941 | Variant to splice donor/acceptor site | Heterozygote—6 (1.9%) |
| p.Ile507del | c.1519_1521delATC | I507del | rs121908745 | Frame insertion/deletion | Heterozygote—5 (1.6%) |
| p.Gln1281His | c.3873G>C | Q1291H | rs121909015 | Single nucleotide variant | Heterozygote—4 (1.2%) |
| p.? | c.1585-1G>A | 1717-1G>A | rs76713772 | Variant to splice donor/acceptor site | Heterozygote—4 (1.2%) |
? = current unknown mutations.