Genotype classification according to the functional consequences of CFTR gene mutations
| Pancreatic status | Class I | Class II | Class III | Class IV | Class V |
|---|---|---|---|---|---|
| CFTR, cystic fibrosis transmembrane regulator; PI, pancreatic insufficiency; PS, pancreatic sufficiency. | |||||
| 1ΔF508. | |||||
| 2Indeterminate. | |||||
| PS | F1, 875+1G→C(2) | F, F (1) | F, G551D (1) | F, R117H (11) | F,3849+10kbC→T (5) |
| F, G85E2(1) | F, R347H (3) | F,3272–26A→G (4) | |||
| F, S1251N (2) | F,A445E (3) | ||||
| F, D614G (1) | F,P574H (2) | ||||
| F, R347P (1) | F,3120G>A (1) | ||||
| R117H,R117H (1) | F, 5T (8) | ||||
| F, L1335P (1) | F,2789+5G→A (1) | ||||
| F,P67L (1) | |||||
| F,R347P/R347H (1) | |||||
| F,V232D(2) | |||||
| R334W, R334W(1) | |||||
| PS→PI | F,3659delC (1) | F,F (15) | F,G551D (1) | F, I1234V (1) | |
| F,2184insA (1) | F,R560T (1) | ||||
| PI | F, G542X (27) | F,F (365) | F, G551D (28) | ||
| F, 621+1G→T (13) | F, R560T (7) | ||||
| F,R553X (7) | F, N1303K (9) | ||||
| F, R1162X (6) | F,L1077P (2) | ||||
| F, 3659delC (5) | F, I48T (1) | ||||
| F, 1717-1G→A (5) | F,A559T (1) | ||||
| F, W1282X (5) | F, G85E2(2) | ||||
| F, 711+1G→T (5) | G551D,G551D(1) | ||||
| F,2184delA(4) | F,H199R (1) | ||||
| W1282X,W1282X (4) | F,I1072T(1) | ||||
| F,Y1092X (3) | F,S549 (R75Q) (1) | ||||
| F,556delA (3) | |||||
| F, Q493X (3) | |||||
| F,4016InsT (3) | |||||
| F, 3120+1G→A (2) | |||||
| F, G551D/R553X (2) | |||||
| F,Q814X(2) | |||||
| F,1154insTC (2) | |||||
| F,441delA (1) | |||||
| F, 4326delTC (1) | |||||
| F,Q552X(1) | |||||
| F,3007delG (1) | |||||
| F,2184insA (1) | |||||
| F, 4010del4 (1) | |||||
| F,3905insT (1) | |||||
| F,1078delT(1) | |||||
| F,E1104X (1) | |||||
| F,3876delA (1) | |||||
| F,4374+1G→T (1) | |||||
| F,E585X (1) | |||||
| F, E60X (1) | |||||