Table 3

Demographic and clinical data of subjects bearing the [p.Ile148Thr;p.Ile1023_Val1024del] complex allele or the p.Ile148Thr mutation

Gender	Current age (years)	Diagnosis	Age at diagnosis/enrolment (years/months)	Cause of diagnosis/enrolment	Allele 1	Allele 2	SCL* (mmol/L)	Current FEV₁† (%)	Pancreatic status	CFTR gating (%)	Other complications
M	31	CF	8 years	Respiratory	p.[Ile148Thr;Ile1023_Val1024del]	p.Phe508del	66	91	PI	7.7	CFRD; Pa col.; nasal polyposis; bronchiectasis
F	Died (34)	CF	6 years	Respiratory	p.[Ile148Thr;Ile1023_Val1024del]	p.Phe508del	112	24	PI	7.8	CFRD; Pa col.
M	Died (14)	CF	2 months	NBS	p.[Ile148Thr;Ile1023_Val1024del]	p.Lys684SerfsX38	91	69	PI	n.a.	Cirrhosis; Pa col.
F	Died (13)	CF	2 months	NBS	p.[Ile148Thr;Ile1023_Val1024del]	p.Asn1303Lys	101	45	PI	6.5	Cirrhosis; CFRD; Pa col.
F	18	CF	6 months	Respiratory	p.[Ile148Thr;Ile1023_Val1024del]	p.Gly85Glu	80	67	PI	n.a.	Recurrent pancreatitis; IGT; Pa col.; DIOS
F	39	Healthy	37 years	Familiarity	p.Ile148Thr	P.Phe508del	12	n.a.	PS	n.a.
M	46	Healthy	39 years	Familiarity	p.Ile148Thr	P.Phe508del	11	n.a.	PS	42.3
F	41	Healthy	41 years	Familiarity	p.Ile148Thr	P.Phe508del	15	n.a.	PS	41.0
M	50	Healthy	38 years	Familiarity	p.Ile148Thr	c.579+1G>T	15	n.a.	PS	56.0
M	32	Healthy	32 years	Familiarity	p.Ile148Thr	N	n.a.	n.a.	n.a.	87.4
M	28	Healthy	28 years	Familiarity	p.Ile148Thr	N	n.a.	n.a.	n.a.	86.3

*For patients with CF, we reported SCL at diagnosis while for healthy subjects we reported current SCL.
†For patients who had died, we reported the last FEV₁ available.
CF, cystic fibrosis; CFRD, cystic fibrosis-related diabetes; DIOS, distal intestine obstruction syndrome; FEV₁, forced expiratory volume in 1 second; IGT, impaired glucose tolerance; n.a., not assessed; N, wild-type allele; NBS, newborn screening; Pa col., Pseudomonas aeruginosa chronic colonisation; PI, pancreatic insufficiency; PS, pancreatic sufficiency; SCL, sweat chloride level.