Table 1

Demographic and clinical data of subjects bearing the [p.Arg74Trp;p.Val201Met;p.Asp1270Asn] or the [p.Arg74Trp;p.Asp1270Asn] complex alleles or the p.Asp1270Asn mutation

Gender	Current age (years)	Diagnosis	Age at diagnosis/enrolment (years)	Cause of diagnosis/enrolment	Allele 1	Allele 2	SCL^* (mmol/L)	Current FEV₁ (%)	Pancreatic status	CFTR gating (%)	Other
M	36	CF	19	Hypochloremic alkalosis	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Phe508del	89	104	PS	n.a.	CBAVD
F	58	CF	53	Familiarity	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Phe508del	62	105	PS	12.0
F	21	CF	9	Familiarity	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Asn1303Lys	109	119	PS	9.8	IGT
F	23	CF	10	Respiratory	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Asn1303Lys	65	95	PS	11.8	IGT; bronchiectasis
M	12	CFTR-RD	6	Respiratory	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Phe508del	37	87	PS	15.0
M	13	CFTR-RD	1	Hypochloremic alkalosis	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Ser1206*	46	91	PS	n.a.
M	37	CFTR-RD	32	CBAVD	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Asp579Gly	118	99	PS	19.1
M	48	CFTR-RD	42	CBAVD	p.[Arg74Trp;Val201Met;Asp1270Asn]	p.Asp1152His	31	n.a.	PS	18.5
M	40	CFTR-RD	34	CBAVD	p.[Arg74Trp;Asp1270Asn]	c.[1210-34TG[12];1210-12T[5]]	32	n.a.	PS	18.9
F	5	Healthy	1	NBS	p.[Arg74Trp;Asp1270Asn]	p.Phe508del	11	n.a.	PS	n.a.
M	40	Healthy	35	Familiarity	p.Asp1270Asn	p.Asn1303Lys	9	n.a.	PS	n.a.
M	40	Healthy	35	Familiarity	p.Asp1270Asn	p.Phe508del	12	n.a.	PS	44.0
M	50	Healthy	40	Familiarity	p.[Arg74Trp;Asp1270Asn]	N	n.a.	n.a.	n.a.	92.6
F	47	Healthy	47	Familiarity	p.[Arg74Trp;Asp1270Asn]	N	n.a.	n.a.	n.a.	94.0

*For patients with CF, we reported SCL at diagnosis while for CFTR-RD and for healthy subjects we reported current SCL; values in italics represent SCL discordant with diagnosis.
CBAVD, congenital bilateral absence of vas deferens; CF, cystic fibrosis; CFTR-RD, cystic fibrosis transmembrane conductance regulator -related disorders; FEV₁, forced expiratory volume in 1 second; IGT, impaired glucose tolerance; n.a., not assessed; N, wild-type allele; NBS, newborn screening; PS, pancreatic sufficiency; SCL, sweat chloride level.