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Table 2 Frequency of CFTR variants among Chinese CF patients

From: Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases

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