Mutation | Nucleotide change | Exon/intron | N | % | Method |
---|---|---|---|---|---|
delF508 | 1652delCTT | 10 | 328 | 56.36 | INNO-LiPA, DHPLC |
N1303K | 4041 C to G | 21 | 51 | 8.76 | INNO-LiPA, DHPLC |
G542X | 1756 G to T | 11 | 42 | 7.21 | INNO-LiPA, DHPLC |
W1282X | 3978 G to A | 20 | 15 | 2.60 | INNO-LiPA, DHPLC |
S549R | 1779 T to G | 11 | 8 | 1.37 | DHPLC |
621+1G-T | 621+1 G to T | Intron 4 | 7 | 1.20 | INNO-LiPA, DHPLC |
1717-1G-A | 1717-1 G to A | Intron 10 | 5 | 0.86 | INNO-LiPA, DHPLC |
G85E | 386 G to A | 3 | 4 | 0.69 | INNO-LiPA, DHPLC |
R553X | 1789 C to T | 11 | 4 | 0.69 | INNO-LiPA, DHPLC |
H139R | 548 A to G | 6a | 3 | 0.51 | DHPLC |
R347P | 1172 G to C | 7 | 3 | 0.51 | INNO-LiPA, DHPLC |
L1065P | 3326 T to C | 17b | 3 | 0.51 | DHPLC |
L1077P | 3362 T to C | 17b | 3 | 0.51 | DHPLC |
S4X | 143 C to A | 1 | 2 | 0.34 | DHPLC |
D110H | 460 G to C | 4 | 2 | 0.34 | DHPLC |
R334W | 1132 C to T | 7 | 2 | 0.34 | INNO-LiPA, DHPLC |
M348K | 1175 T to A | 7 | 2 | 0.34 | DHPLC |
1259insA | 1259 ins A | 8 | 2 | 0.34 | DHPLC |
S549N | 1778 G to A | 11 | 2 | 0.34 | DHPLC |
L558S | 1805 T to C | 11 | 2 | 0.34 | DHPLC |
2183+AA-G | 2183 A to G and 2184 del A | 13 | 2 | 0.34 | INNO-LiPA, DHPLC |
2789+5G-A | 2789+5 G to A | Intron 14b | 2 | 0.34 | INNO-LiPA, DHPLC |
R1066C | 3328 C to T | 17b | 2 | 0.34 | DHPLC |
3667ins4 | 3667insTCAA | 19 | 2 | 0.34 | DHPLC |
S42F | 257 C to T | 2 | 2 | 0.34 | DHPLC |
R117L | 482 G to T | 4 | 1 | 0.17 | DHPLC |
H199R | 728 A to G | 6a | 1 | 0.17 | DHPLC |
R334L | 1133 G to T | 7 | 1 | 0.17 | DHPLC |
T338I | 1145 C to T | 7 | 1 | 0.17 | DHPLC |
G551D | 1784 G to A | 11 | 1 | 0.17 | INNO-LiPA, DHPLC |
Q552X | 1786 C to T | 11 | 1 | 0.17 | INNO-LiPA, DHPLC |
D614G | 1973 A to G | 13 | 1 | 0.17 | DHPLC |
A1006E | 3149 C to A | 17a | 1 | 0.17 | DHPLC |
4016insT | 4016 ins T | 21 | 1 | 0.17 | DHPLC |
4040delA | 4040 del A | 21 | 1 | 0.17 | DHPLC |
4167del7 | 4167 delCTAAGCC | 22 | 1 | 0.17 | DHPLC |
Detected | 511 | 88.10 | |||
Unknown | 69 | 11.90 | |||
Total | 580 | 100.00 |