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Table 4 UKBB participants with a CF-causing and variable clinical consequence (VCC) variant

From: Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

Ancestry

Variant1

Variant2

Count

EUR

R117H

F508del

38

L967S

F508del

30

D443Y

F508del

13

P750L

F508del

12

621 + 3A- > G

F508del

5

R334Q

F508del

4

P750L

G551D

3

R258G

F508del

3

D1152H

F508del

2

F1052V

F508del

2

L967S

1717-1G- > A

2

L967S

G551D

2

L967S

W1282X

2

Q1291H

F508del

2

R1070W

F508del

2

D1270N

F508del

1

D443Y

1898 + 1G- > A

1

D443Y

N1303K

1

D443Y

Q493X

1

D443Y

R553X

1

F575Y

1154insTC

1

L967S

1138insG

1

L967S

1898 + 1G- > A

1

L967S

3659delC

1

M265R

F508del

1

P750L

1461ins4

1

P750L

R560T

1

P750L

W846X

1

R1070Q

F508del

1

R1070W

G542X

1

R117G

F508del

1

R117H

1898 + 1G- > A

1

R117H

2184delA

1

R117H

3272-26A- > G

1

R117H

I507del

1

R117H

R347H

1

R117H

R347P

1

R352W

N1303K

1

MIX

R117H

F508del

5

621 + 3A- > G

F508del

1

D443Y

F508del

1

D1152H

1898 + 1G- > A

1

F1052V

F508del

1

Q1476X

N1303K

1