Table 2 CF mutations identified in cohort of 290 patients from the Central Italy

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