Table 1.
Overview of CFTR mutations in this review, their frequency and approved treatments.
| Name | cDNA Name | Allele Frequency (%) |
CFTR2 Alleles |
Approved Treatment |
|---|---|---|---|---|
| CFTRdele2,3 | c.54-5940_273 + 10250del21kb | 0.3 | 417 | NA |
| P67L | c.200C>T | 0.2 | 239 | K/S/T |
| G85E | c.254G>A | 0.4 | 616 | T |
| E92K | c.274G>A | <0.1 | 49 | S/T |
| R117H * | c.350G>A | 1.3 | 1854 | K/S/T |
| Y122X | c.366T>A | 0.1 | 88 | NA |
| 621+1G>T | c.489+1G>T | 0.9 | 1323 | NA |
| G178R | c.532G>A | 0.1 | 87 | K/S/T |
| R334W | c.1000C>T | 0.3 | 429 | NA |
| W496X | c.1487G>A | <0.1 | 3 | NA |
| I507del | c.1519-1521delACT | 0.5 | 651 | NA |
| F508del | c.1521-1523delCTT | 69.7 | 99061 | O/S/T |
| 1717-1G>A | c.1585-1G>A | 0.9 | 1216 | NA |
| G542X | c.1624G>T | 2.5 | 3610 | NA |
| S549R | c.1645A>C | 0.1 | 93 | K/S/T |
| S549N | c.1646G>A | 0.1 | 203 | K/S/T |
| G551S | c.1651G>A | <0.1 | 19 | K/S/T |
| G551D | c.1652G>A | 2.1 | 2986 | K/S/T |
| R553X | c.1657C>T | 0.9 | 1323 | NA |
| 2789+5G>A | c.2657+5G>A | 0.7 | 1027 | K/S |
| G970R | c.2908G>C | <0.1 | 12 | NA |
| R1162X | c.3484C>T | 0.5 | 651 | NA |
| I1234V | c.3700A>G | <0.1 | 33 | NA |
| 3849+10kbC>T | c.3718-2477C>T | 0.8 | 1158 | K/S |
| G1244E | c.3731G>A | 0.1 | 106 | K/S/T |
| S1251N | c.3752G>A | 0.1 | 120 | K/S/T |
| S1255P | c.3763T>C | <0.1 | 10 | K/S/T |
| W1282X | c.3846G>A | 1.2 | 1726 | NA |
| N1303K | c.3909C>G | 1.6 | 2246 | NA |
| Q1313X | c.3937C>T | <0.1 | 30 | NA |
| G1349D | c.4046G>A | <0.1 | 22 | K/S/T |
| Q1412X | c.4234C>T | <0.1 | 4 | NA |
NA: no treatment available; K: Kalydeco™; O: Orkambi™; S: Symdeko™; T: Trikafta™. * mutation with varying clinical significance. Frequency/allele numbers: www.CFTR2.org (accessed on 10 May 2022); Approved treatments: www.kalydeco.com (accessed on 10 May 2022)/www.orkambi.com (accessed on 10 May 2022)/www.symdeko.com (accessed on 10 May 2022)/www.trikafta.com (accessed on 10 May 2022).