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Table 1 BCFR2013-patients, according to their mutations

From: What can the CF registry tell us about rare CFTR-mutations? A Belgian study

MUTATION 1

MUTATION 2

  

In CFTR2

Not in CFTR2

Not identified

Total

  

CF-causing

Non CF causing

VCC

CFTR1

Non-CFTR1

  

In CFTR2

CF-causing

995

8

49

51

20

34

1157

 

Non CF causing

-

1

-

-

-

-

1

 

VCC

-

-

3

-

-

-

3

Not in CFTR2

CFTR1

-

-

-

2

-

2 a

4

 

Non-CFTR1

-

-

-

3

1

-

4

Not identified

 

-

-

-

-

-

14

14

Total

 

995

9

52

56

21

50

1183

  1. 2 patients, carrying 1 RM and 1 ‘not identified’ mutation are excluded from analysis (a)
  2. Bold: mutations not reported in CFTR2, subsequently defined as a RM