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

NA not applicable

^aNovel alleles in this study