Orphanet Journal of Rare Diseases

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	V562I^a	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
Q359R^b	1717-1G > A	45	PI
A120T	F508del	47	PI
L159S^c	F508del	55	PS

Panc pancreatic status, PI pancreatic insufficient, PS pancreatic sufficient
^aCFTR1-RM
^bQ359R = legacy name for c.1076A > G, as mentioned in the registry
^cFound in another subject with sweat chloride > 60 mmol/L
^din mmol/L

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ISSN: 1750-1172

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