Table 1.
Distribution of CFTR gene mutations in Chechen CF patients
| CFTR genotypes | Number of patients (n = 32) | Frequency |
| c.[1545_1546delTA];[1545_1546delTA] (p.[Tyr515X];[Tyr515X]; 1677delTA/1677delTA) | 20 | 0.625 |
| c.[1545_1546delTA];[274G > A] (p.[Tyr515X];[Glu92Lys]; (1677delTA/ E92K) | 8 | 0.251 |
| c.[1545_1546delTA];[287C > A] p.[Tyr515X];[Ala96Glu]; 1677delTA/A96E) | 1 | 0.031 |
| c.[1545_1546delTA];[1000C > T] (p.[Tyr515X];[Arg334Trp]; 1677delTA/R334W) | 1 | 0.031 |
| c.[1545_1546delTA];[3846G > A] (p.[Tyr515X];[Trp1282X]; 1677delTA/W1282X) | 1 | 0.031 |
| c.[1545_1546delTA];[3925_3936delCAGTGGAGTGAT] (p.[Tyr515X];[Trp1310_Gln1313del]) | 1 | 0.031 |
| CFTR alleles | Number (n = 64) | Frequency |
| c.1545_1546delTA (p.Tyr515X; 1677delTA) | 52 | 0.8130 |
| c.274G > A (p.Glu92Lys, E92K) | 8 | 0.1250 |
| c.287C > A (p.Ala96Glu, A96E) | 1 | 0.0155 |
| c.1000C > T (p.Arg334Trp; R334W) | 1 | 0.0155 |
| c.3846G > A (p.Trp1282X; W1282X) | 1 | 0.0155 |
| c.3925_3936delCAGTGGAGTGAT (p.Trp1310_Gln1313del) | 1 | 0.0155 |