Reference genotypes | | | | | | | | | |
F508del/F508del | 35 | M 22, F 13 | 9 (1–46) | 0.2# (0–7.5) | 102¶ (86.5–119) | PI | 76+ (28–137) | Yes | CF-causing (n=33 983) |
F508del/S1251N | 4 | M 2, F 2 | 22 (12–37) | 0.7 (0.1–0.8) | 94 (83–98) | PI 3, PS 1 | 75 (52–107) | Yes | CF-causing (n=92) |
F508del/R117H | 2 | M | (19, 27) | (11.5, 19.7) | 43, 61 | PS | 117–111 | Yes | Variable consequences (n=1309) |
G542X/G542X | 1 | F | 41 | 1.6 | 117 | PI | 94 | Yes | CF-causing (n=121) |
F508del heterozygous | | | | | | | | | |
F508del/MF (F508del/N1303K n=4, F508del/G542X n=3, F508del/4010del4 n=1, F508del/1898+1G>C n=1, F508del/1259insA n=1,F508del/1717–1G>A n=1) | 11 | M 3, F 8 | 12 (5–43) | 0.3§ (0–10.1) | 101§ (90–121) | PI | 82ƒ (30–102) | Yes | All CF-causing, F508del/N1303K (n=1240), F508del/G542X (n=2112), F508del/4010del4 (n=5), F508del/1898+1G>C (n=292), F508del/1259insA (n=7) and F508del/1717–1G>A (n=800) |
F508del/R117C | 1 | M | 5 | 3.5 | 46.5 | PS | ND | Yes | CF-causing (n=91) |
F508del/L159S | 2 | F | (18, 20) | (4.7, 6.6) | 76, 54 | PS | 113 | Yes | L159S not reported |
F508del/Q237E | 1 | M | 48 | 39.1 | 80 | PS | 64 | Yes | Q237E not reported |
F508del/R334W | 1 | M | 59 | 19.4 | ND | PI | 37 | Yes | CF-causing (n=231) |
F508del/A455E | 1 | F | 10 | 0.2 | 88 | PI | 95 | Yes | CF-causing (n=355) |
F508del/D1152H | 1 | M | 57 | 44.6 | 44 | PS | 38 | Yes | Variable consequences (n=358) |
F508del/TG12T5 | 1 | M | 14 | 2.9 | 40 | PS | 87 | Yes | Variable consequences (n=95) |
F508del/3849+10kbC>T | 1 | F | 31 | 8.2 | ND | PS | 38 | Yes | CF-causing (n=651) |
Non-F508del | | | | | | | | | |
Q359K_T360K/Q359K_T360K | 1 | F | 40 | ND | 90 | ND | ND | Yes | Not reported |
A455E/del Ex1 and promoter | 1 | M | 52 | 27.9 | 98 | PS | 65 | Yes | del ex1 and promoter not reported, A445E CF-causing (n=499) |
E831X/E831X | 1 | F | 2 | 0.3 | 54 | PS | ND | Yes | CF-causing (n=2) |
W1282X/G85E | 1 | M | 34 | 0.4 | 114 | PI | 56 | Yes | CF-causing (n=10) |
W1282X/I1234V | 2 | M 1, F 1 | (26, 31) | ND | 79, 115 | ND | ND | Yes | CF-causing (n=9) |
W1282X/TG12T5 | 2 | M 1, F 1 | (10, 13) | ND | 30, 52 | ND | ND | Yes | Combination not reported, W1282X CF-causing (n=1556), TG12T5 variable |
N1303K/Q359K_T360K | 1 | F | 18 | ND | 117 | ND | ND | Yes | Combination not reported, N1303K CF-causing (n=2147), Q359K_T360K not reported |
N1303K/K464E | 1 | F | 13 | 0.3 | 110 | PI | 111 | K464E not reported | Combination not reported, N1303K CF-causing (n=2147), K464E not reported |
N1303K/3121-1G>A | 1 | M | 13 | ND | 100 | PI | ND | Yes | CF-causing (n=1) |
N1303K/4010del4 | 1 | F | 23 | ND | ND | ND | ND | Yes | CF-causing (n=1) |
405+1G>A/405+1G>A | 1 | M | 27 | ND | 105 | ND | ND | Yes | CF-causing (n=2) |
c.1648_1652dupATCAT/M1137R | 1 | M | 11 | 0.2 | 102 | PS | 94 | c.1648_1652dupATCAT not reported | Both not reported |
1717-1G>A/ g.3464_3471dupTCATTGCT and V1198M | 1 | F | 16 | 0.9 | 106 | PI | 77 | g.3464_3471dupTCATTGCT and V1198M not reported | g.3464_3471dupTCATTGCT and V1198M not reported, 1717-1G>A CF-causing (n=1202) |
1811+1.6kbA>G/E92K | 1 | F | 6 | 0.4 | 77 | PI | 96 | Yes | Combination not found, both CF-causing, E92K (n=42), 1811+1.6kbA>G (n=22) |
4218insT/3272-26A>G | 1 | M | 40 | 0.1 | 84 | PI | 81 | Yes | CF-causing (n=1) |