Table 2

- Cystic fibrosis transmembrane conductance regulator (CFTR) variants identified in patients with cystic fibrosis from Saudi Arabia. The identity of the complementary deoxyribonucleic acid (cDNA), protein, legacy, and exon region of each identified CFTR variant is listed.

Variant numbercDNA nameProtein nameLegacy nameRegionReference
1c.1521_1523delCTTp.Phe508del[delta]F508Exon 11(16, 17)
2c.1418delGp.Gly473GlufsX541548delGExon 11(18)
3c.579+1G>T-711+ 1G- >TIntron 5(19)
4c.2988+1G>A-3120+ 1G- >AIntron 18(20, 21)
5c.3419T>Ap.Met1140LysM1140KExon 21(22)
6c.4124A>Cp.His1375ProH1375PExon 25(23)
7c.3700A>Gp.Ile1234ValI1234VExon 22(24)
8c.2739T>Ap.Tyr913XY913XExon 17(25)
9c.443T>Cp.Ile148ThrI148TExon 4(26)
10c.2657+5G>A-2789+ 5G>AIntron 16(27)
11*1549 deIG---In this study
12delExon19-21---(17)
13c.1697C>Ap.Ala566Asp-Exon 12(28)
14c.2620-26A>G-2752- 26A- >GIntron 15(29)
15c.2051_2052delAAinsGp.Lys684SerfsX382183AA- >GExon 14(30)
16c.1660_1661insAp.Ala554AspfsX14-Exon 12(31)
17c.4251delAp.Glu1418ArgfsX144382delAExon 27(32)
18c.3717+12191C>T-3849+ 10kbC- >TIntron 22(23)
19c.220C>Tp.Arg74TrpR74WExon 3(33)
20c.530T>Cp.Ile177ThrI177TExon 5(34)
21c.1408A>Gp.Met470ValM470VExon 11(35)
22c.2562T>G-2694T/GExon 15(36)
23c.4389G>A-4521G/AExon 27(37)
24c.869+11C>T-1001+ 11C/TIntron 7(38)
25c.91C>Tp.Arg31CysR31CExon 2(39)
26c.1399C>Tp.Leu467Phe1531C/T (L467F)Exon 11(40)