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Table 3 List of 60 mutations in the cystic fibrosis transmembrane regulator gene (specificity 100%)

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

F508del

I507del

F508C

621+1G>T

D110H

E585X

G1349D

I502T

1706del17

1677delTA

R117H

H139R

1898+1G>A

4015delA

G542X

1717-1G>A

Q552X

852del22

G178R

1898+3A>G

 

G551D

S549R(A>C)

2183AA>G

T338I

991del5

1898+5G>T

 

N1303K

4016insT

3849+10kb C>T

R347P

R334W

2184insA

 

G85E

711+5G>A

711+1G>T

1259insA

R347H

2522insC

 

2789+5G>A

W1282X

G1244E

R1066H

R352Q

3120+1G>A

 

I148T

3199del6

S912X

R1158X

1717-8G>A

R1066C

 

R1162X

4382delA

D1152H

L1077P

D579G

3272-26A>G

 

L1065P

R553X

PoliT: 5T, 7T, 9T

1874insT

3659delC