Table 2. Mutations that were analysed by the different INNO-LiPA CFTR kits.
INNO-LiPA CFTR19 | INNO-LiPA CFTR17 | INNO-LiPA CFTR Italian regional |
---|---|---|
[delta]F508 | 621+1G>T | 1259insA |
G542X | 3849+10kbC>T | 4016insT |
N1303K | 2183AA>G | 4382delA |
W1282X | 394delTT | 852del22 |
G551D | 2789+5G>A R1162X | D579G |
1717-1G>A | 3659delC | G1244E |
R553X | R117H | G1349D |
CFTRdele2,3 (21 kb) | R334W | I502T |
[delta]I507 | R347P | L1065P |
711+1G>T | G85E | R1158X |
3272-26A>G 3905insT | 1078delT | T338I |
R560T | A455E | S549R(A>C) |
1898+1G>A S1251N | 2143delA 711+5G>A | 991del5 |
I148T | E60X | D1152H |
3199del6 3120+1G>A | 2184delA | 1898+3A>G, R1070Q |
Q552X | Poli-T tract variations | R1066H |
R347H | ||
621+3A>G | ||
R334Q | ||
E217G |
Abbreviation: CFTR, cystic fibrosis transmembrane conductance regulator.