Table 2

CFTR gating activity measured on epithelial nasal cells in the following groups of patients: (A) CF with PI and two class I–II CFTR mutations; (B) CF with PI compound heterozygous for the [p.Ile148Thr;p.Ile1023_Val1024del] complex allele and a class I–II CFTR mutation; (C) CF with PS and compound heterozygous for a complex allele and a class I–II CFTR mutation; (D) CFTR-related disorders; (E) healthy subjects compound heterozygous for a class I–II mutation and a sequence variation with no functional effect; (F) healthy subjects heterozygous for a class I–II mutation; (G) healthy subjects heterozygous for a sequence variation with no functional effect; and (H) subjects with a undefined diagnosis

			Gating activity (%)
Group	n	CFTR genotype	Individual	Mean (SD)
A	1	p.[Phe508del];[Phe508del]	5.9	6.9 (1.1)
	2	p.[Phe508del];[Phe508del]	6.2
	3	p.[Phe508del];[Phe508del]	7.9
	4	p.[Phe508del];[Phe508del]	8.1
	5	p.[Phe508del];[Phe508del]	7.7
	6	p.[Gly542*];[Ser1297PhefsX5]	7.7
	7	p.[Gly542*];[Ser1297PhefsX5]	6.8
	8	p.[Asn1303Lys];c.[579+1G>T]	5.2
B	9	p.[Ile148Thr;Ile1023_Val1024del];[Phe508del]	7.7	7.3 (0.7)
	10	p.[Ile148Thr;Ile1023_Val1024del];[Phe508del]	7.8
	11	p.[Ile148Thr;Ile1023_Val1024del];[Asn1303Lys]	6.5
C	12	p.[Arg74Trp;Val201Met;Asp1270Asn];[Phe508del]	12.0	14.3 (4.4)
	13	p.[Arg74Trp;Val201Met;Asp1270Asn];[Asn1303Lys]	9.8
	14	p.[Arg74Trp;Val201Met;Asp1270Asn];[Asn1303Lys]	11.8
	15	c.[1210-34TG[12];1210-12T[5];2930C>T];[1000C>T]	19.5
	16	c.[1210-34TG[12];1210-12T[5];2930C>T];[579+1G>T]	18.5
D	17	p.[Arg74Trp;Val201Met;Asp1270Asn];[Phe508del]	15.0	19.5 (3.0)
	18	p.[Arg74Trp;Val201Met;Asp1270Asn];[Asp579Gly]	19.1
	19	p.[Arg74Trp;Val201Met;Asp1270Asn];[Asp1152His]	18.5
	20	c.[220C>T;3808G>A];[1210-34TG[12];1210-12[5]]	18.9
	21	p.[Leu997Phe];[Gly542*]	24.8
	22	p.[Leu997Phe];[Asn1303Lys]	21.3
	23	c.[1210-34TG[12];1210-12T[5];2930C>T];[Asn1303Lys]	19.0
E	24	p.[Asp1270Asn];[Asn1303Lys]	44.0	45.8 (6.9)
	25	p.[Ile148Thr];[Phe508del]	42.3
	26	p.[Ile148Thr];[Phe508del]	41.0
	27	c.[443T>C];[579+1G>T]	56.0
F	28	p.[Phe508del];[=]	40.7	54.9 (15.4)
	29	p.[Gly542*];[=]	76.8
	30	p.[Asn1303Lys];[=]	49.3
	31	p.[Gly542*];[=]	53.0
G	32	p.[Ile148Thr];[=]	87.4	87.6 (5.4)
	33	p.[Ile148Thr];[=]	86.3
	34	p.[Leu997Phe];[Asn1303Lys]	86.4
	35	p.[Leu997Phe];[Asn1303Lys]	78.9
	36	p.[Arg74Trp;Asp1270Asn];[=]	92.6
	37	p.[Arg74Trp;Asp1270Asn];[=]	94.0
H	38	p.[Arg117Leu;Leu997Phe];[Arg117Leu;Leu997Phe]	39.0
	39	p.[Leu997Phe];[Leu997Phe]	28.9

CF, cystic fibrosis; PI, pancreatic insufficiency; PS, pancreatic sufficiency.