Table 2 Frequency of CFTR variants among Chinese CF patients
Nucleotide change | Amino acid change | Frequency | Percent (%) |
|---|---|---|---|
c.2909G > A | p.G970D | 12 | 9.8 |
c.1766 + 5G > T | – | 9 | 7.4 |
c.3068 T > G | p.I1023R | 6 | 4.9 |
c.263 T > G | p.L88X | 5 | 4.1 |
c.293A > G | p.Q98R | 5 | 4.1 |
c.1666A > G | p.I556V | 4 | 3.3 |
c.595C > T | p.H199Y | 4 | 3.3 |
c.1657C > T | p.R553X | 3 | 2.5 |
c.3196C > T | p.R1066C | 3 | 2.5 |
c.326A > G | p.Y109C | 3 | 2.5 |
c.648G > A | p.W216X | 3 | 2.5 |
△E20 (c.3140-454_c.3367 + 259del931ins13) | p.R1048_G1123del | 2 | 1.6 |
c.1000C > T | p.R334W | 2 | 1.6 |
c.[2083dupG; 2684G > A] | p.[E695Gfs*35; S895 N] | 2 | 1.6 |
c.2374C > T | p.R792X | 2 | 1.6 |
c.414_415insCTA | p.L138_H139insL | 2 | 1.6 |
c.558C > G | p.N186K | 2 | 1.6 |