Skip to main content

Table 3 RM with sweat chloride < 60 mmol/L

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

CFTR1-RM Trans mutation Sweat Cl (d) Panc Non-CFTR1-RM Trans mutation Sweat Cl (d) Panc
G213 V V562Ia 28 PI 1002-1113_110delGAAT F508del 49 PS
F932S F508del 30 PI 1002-1113_110delGAAT F508del 38 PS
R810G F508del 32 PS 1002-1113_110delGAAT F508del 48 PS
P750L F508del 36 PI G551R 3849 + 10kbC > T 30 PS
I125T F508del 36 PS T854A G542X 46 PI
V938G F508del 40 PS  
Q359Rb 1717-1G > A 45 PI
A120T F508del 47 PI
L159Sc F508del 55 PS
  1. Panc pancreatic status, PI pancreatic insufficient, PS pancreatic sufficient
  2. aCFTR1-RM
  3. bQ359R = legacy name for c.1076A > G, as mentioned in the registry
  4. cFound in another subject with sweat chloride > 60 mmol/L
  5. din mmol/L