Table 2 Identified CFTR mutations
CFTR mutation | CFTR allelic number | CFTR allelic frequency (%) | Number of compound heterozygous/homozygous patients | ||
|---|---|---|---|---|---|
Legacy name | cDNA name (NM_000492.3) | Protein name | |||
F508del | c.1521_1523delCTT | p.Phe508del | 47 | 45.2 | 22/13 |
L346P | c.1037T > C | p.Leu346Pro | 7 | 6.7 | 7/0 |
CFTR-dup2 | NA | NA | 4 | 3.8 | 0/2 |
CFTRdele2,3 | c.54-5940_273 + 10250del21kb | p.Ser18ArgfsX16 | 4 | 3.8 | 4/0 |
R117C | c.349C > T | p.Arg117Cys | 3 | 2.9 | 3/0 |
1677delTA | c.1545_1546delTA | p.Tyr515X | 3 | 2.9 | 3/0 |
4332delTG + 621 + 3A- > G | c.4200_4201delTG + c.489 + 3A > G | p.Cys1400X | 3 | 2.9 | 3/0 |
S549N | c.1646G > A | p.Ser549Asn | 2 | 1.9 | 2/0 |
W1282X | c.3846G > A | p.Trp1282X | 2 | 1.9 | 2/0 |
2789 + 5G > A | c.2657 + 5G > A | NA | 2 | 1.9 | 2/0 |
3601-65C > A | NA | NA | 2 | 1.9 | 2/0 |
3849 + 10kbC- > T | c.3717 + 12191C > T | NA | 2 | 1.9 | 2/0 |
621 + 1G- > T | c.489 + 1G > T | NA | 2 | 1.9 | 2/0 |
CFTRdele4-11 | NA | NA | 1 | 1.0 | 1/0 |
D110H | c.328G > C | p.Asp110His | 1 | 1.0 | 1/0 |
E379X | c.1135G > T | p.Glu379X | 1 | 1.0 | 1/0 |
G542X | c.1624G > T | p.Gly542X | 1 | 1.0 | 1/0 |
G551D | c.1652G > A | p.Gly551Asp | 1 | 1.0 | 1/0 |
M348K | c.1043T > A | p.Met348Lys | 1 | 1.0 | 1/0 |
N1303K | c.3909C > G | p.Asn1303Lys | 1 | 1.0 | 1/0 |
N1303K + 3601-65C > A | c.3909C > G | p.Asn1303Lys | 1 | 1.0 | 1/0 |
Q1476X | c.4426C > T | p.Gln1476X | 1 | 1.0 | 1/0 |
R1066C | c.3196C > T | p.Arg1066Cys | 1 | 1.0 | 1/0 |
R117H | c.350G > A | p.Arg117His | 1 | 1.0 | 1/0 |
R347P | c.1040G > C | p.Arg347Pro | 1 | 1.0 | 1/0 |
2183AA- > G | c.2051_2052delAAinsG | p.Lys684SerfsX38 | 1 | 1.0 | 1/0 |
4382delA | c.4251delA | p.Glu1418ArgfsX14 | 1 | 1.0 | 1/0 |
NA | c.2629T > Ga | p.Ser877Alaa | 1 | 1.0 | 1/0 |
NA | c.531dupTa | p.Gly178TrpfsX5a | 1 | 1.0 | 1/0 |
5T (TG11) | NA | NA | 1 | 1.0 | 1/0 |
Unidentified Mutations | NA | NA | 4 | 3.8 | 2/1 |