Database delle correlazioni tra genotipi CF rari e fenotipo
	R31C	Exon2
	C toT at 223	Costes et al. 1993
	R75Q	Exon 3
	G to A at 356	Zielenski et al. 1991
	R117H	Exon 4
	G to A at 482	Dean et al. 1990
	I148T	Exon 4
	T to C at 575	Bozon et al. 1994
	N187K	Exon 5
	C to A at 693	Arduino et al. 1998
	Y301C	Exon 7
	A to G at 1034	Constantinou-Deltas et al. (NL#58)
	Allele 5T	Intron 8 (splicing defect)
	Reduction of poly-T tract to 5T at 1342-12	Chu et al. 1991
	F508C	Exon 10
	T to G at 1655	Kobayashi et al. 1990
	1811+1.6kbA->G	Intron 11 (creation of splice site)
	A to G at 1811+1.6 kb	Chillón et al. 1995
	G576A	Exon 12
	G to C at 1859	Sarginson et al. 1996
	R668C	Exon 13
	C to T at 2134	Fanen et al. 1992
	2789+5G->A	Intron 14b (splicing defect)
	G to A at 2789+5 bp	Highsmith et al. 1990
	L997F	Exon 17a
	G to C at 3123	Kabra et al. (NL#69)
	F1052V	Exon 17b
	T to G at 3286	Mercier et al. 1993b
	D1152H	Exon 18
	G to C at 3586	Highsmith et al. (NL#49)
	S1235R	Exon 19
	T to G at 3837	Cuppens et al. 1993
	3849+10kbC->T	Intron 19 (creation of splice site)
	C to T at 3849 + 10 kb	Highsmith et al. 1994
	L1414S	Exon 23
	T to C at 43473	Picci L e Scarpa M 2002
	Q1476X	Exon 24
	C to T at 4558	Claustres et Al 1999

Database Frequenze