| List of CFTR variants in CF patients from Ugra | ||||
|---|---|---|---|---|
| CFTR variant calling (HGVS; legacy) | type of variant | n = 117 | % | |
| 1 | c.1521_1523delCTT ([delta]F508) | del w/o frameshift | 57 | 48.7 |
| 2 | c.54-5940_273+10250del21kb (CFTRdele2,3) | large rearrangement | 6 | 5.1 |
| 3 | c.1545_1546delTA (1677delTA) | del w/frameshift | 6 | 5.1 |
| 4 | c.274G>A (E92K) | missense; splicing defect | 5 | 4.3 |
| 5 | c.3196C>T (R1066C) | missense | 4 | 3.4 |
| 6 | c.3909C>G (N1303K) | missense | 3 | 2.6 |
| 7 | c.412_413insACT (L138ins) | ins w/o frameshift | 2 | 1.7 |
| 8 | c.1397C>G (S466X)* | nonsense | 2 | 1.7 |
| 9 | c.1399C>T (R1070Q)* | missense | 2 | 1.7 |
| 10 | c.3209G>A (L467F) | VUCS | 2 | 1.7 |
| 11-38 | 28 variants (each 0,9%) | all | 28 | 23.9 |
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