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Table 2 Comparison between the results obtained in this study and those obtained in a previous study

From: Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

 

Castaldo et al.[14]

Mutations observed in the present study

F508del

55.8% (29)

48.62% (141)

N1303K

3.8% (2)

9.31% (27)

G542X

3.8% (2)

8.96% (26)

W1282X

3.8% (2)

1.03% (3)

2183AA>G

5.8% (3)

2.76% (8)

R1162X

0

0

1717-1G>A

1.9% (1)

0

T338I

0

0

R347P

0

0.69% (2)

711+5G>A

0

0

852del22

5.8% (3)

1.03% (3)

4382delA

0

0.69% (2)

1259insA

0

0.34% (1)

4016insT

0

0.34% (1)

R553X

0

0.34% (1)

R1158X

0

0

L1077P

0

1.03% (3)

I502T

0

0

3849+10kbC>T

1.9% (1)

0.34% (1)

D579G

0

0.69% (2)

G1244E

3.8% (2)

0

G1349D

0

0.34% (1)

2789+5G>A

0

1.03% (3)

711+1G>T

0

0

L1065P

0

0

2522insC

0

0

E585X

0

0

G85E

0

0

G178R

0

0

D1152H

0

3.10% (9)

I148T-3195del6

0

0

I148T (alone)

0

4.48% (13)

R334W

0

0

DI507

0

0.69% (2)

I1005R

0

0

3272-26A>G

0

0

2711delT

0

0

L558S

1.9% (1)

0.34% (1)

W1063X

0

0

D110H

0

0

S549R (A>C)

1.9% (1)

0.69% (2)

2184insA

0

0

3131del22

0

0

R709N

0

0

A349V

0

0

4015insA

0

0

Y849X

1.9% (1)

0.34% (1)

G551D

0

1.03% (3)

621+3A>G

0

0.34% (1)

E831X

0

0

I507del

0

0.69% (2)

IVS8 TG12/t5

0

1.03% (3)

H139R (A->G)

0

0.34% (1)

1248+1G>A

0

0.34% (1)

R74W;V201M;D1270N

0

0.69% (2)

S1455X

0

0.34% (1)

dele 2,3 (21kb)

0

0.34% (1)

991del5

0

0.34% (1)

UNKNOWN

7 %(4)

4.83% (14)

F508C

0

0.69% (2)

TOTAL

52

290