Demographic and clinical data of subjects bearing the c.[1210-34TG[12];1210-12T[5];2930C>T] complex allele
| Gender | Current age (years) | Diagnosis | Age at diagnosis (years) | Cause of diagnosis | Allele 1 | Allele 2 | SCL* (mmol/L) | Current FEV1 (%) | Pancreatic status | CFTR gating | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|
| M | 22 | CF | 18 | Respiratory symptoms | c.[1210-34TG[12];1210-12T[5];2930C>T] | c.579+1G>T | 87 | 104 | PS | 18.5 | Pa col. |
| M | 43 | CFTR-RD | 25 | CBAVD | c.[1210-34TG[12];1210-12T[5];2930C>T] | p.Asn1303Lys | 50 | 110 | PS | 19.0 | Recurrent pancreatitis |
| F | 32 | CFTR-RD | 19 | Recurrent pancreatitis | c.[1210-34TG[12];1210-12T[5];2930C>T] | p.Asn1303Lys | 41 | 100 | PS | n.a. |
*For the patient with CF, we reported SCL at diagnosis while for the patients with CFTR-RD we reported current SCL.
CBAVD, congenital bilateral absence of vas deferens; CF, cystic fibrosis; CFTR-RD, cystic fibrosis transmembrane conductance regulator-related disorders; SCL, sweat chloride level; FEV1, forced expiratory volume in 1 second; PS, pancreatic sufficiency; Pa col, Pseudomonas aeruginosa chronic colonisation.