Variant number | cDNA name | Protein name | Legacy name | Region | Reference |
1 | c.1521_1523delCTT | p.Phe508del | [delta]F508 | Exon 11 | (16, 17) |
2 | c.1418delG | p.Gly473GlufsX54 | 1548delG | Exon 11 | (18) |
3 | c.579+1G>T | - | 711+ 1G- >T | Intron 5 | (19) |
4 | c.2988+1G>A | - | 3120+ 1G- >A | Intron 18 | (20, 21) |
5 | c.3419T>A | p.Met1140Lys | M1140K | Exon 21 | (22) |
6 | c.4124A>C | p.His1375Pro | H1375P | Exon 25 | (23) |
7 | c.3700A>G | p.Ile1234Val | I1234V | Exon 22 | (24) |
8 | c.2739T>A | p.Tyr913X | Y913X | Exon 17 | (25) |
9 | c.443T>C | p.Ile148Thr | I148T | Exon 4 | (26) |
10 | c.2657+5G>A | - | 2789+ 5G>A | Intron 16 | (27) |
11 | *1549 deIG | - | - | - | In this study |
12 | delExon19-21 | - | - | - | (17) |
13 | c.1697C>A | p.Ala566Asp | - | Exon 12 | (28) |
14 | c.2620-26A>G | - | 2752- 26A- >G | Intron 15 | (29) |
15 | c.2051_2052delAAinsG | p.Lys684SerfsX38 | 2183AA- >G | Exon 14 | (30) |
16 | c.1660_1661insA | p.Ala554AspfsX14 | - | Exon 12 | (31) |
17 | c.4251delA | p.Glu1418ArgfsX14 | 4382delA | Exon 27 | (32) |
18 | c.3717+12191C>T | - | 3849+ 10kbC- >T | Intron 22 | (23) |
19 | c.220C>T | p.Arg74Trp | R74W | Exon 3 | (33) |
20 | c.530T>C | p.Ile177Thr | I177T | Exon 5 | (34) |
21 | c.1408A>G | p.Met470Val | M470V | Exon 11 | (35) |
22 | c.2562T>G | - | 2694T/G | Exon 15 | (36) |
23 | c.4389G>A | - | 4521G/A | Exon 27 | (37) |
24 | c.869+11C>T | - | 1001+ 11C/T | Intron 7 | (38) |
25 | c.91C>T | p.Arg31Cys | R31C | Exon 2 | (39) |
26 | c.1399C>T | p.Leu467Phe | 1531C/T (L467F) | Exon 11 | (40) |