. 2022 Dec 16;11(24):4096. doi: 10.3390/cells11244096

Table 1.

CFTR Loss-of-Function (LOF) alleles in hospitalized patients.

Nucleotide Change	Amino Acid Change	dbSNP	CADD	gnomAD_ NFE	Cis/ Trans	Alleles’ Residual Activity (%)	Global Residual Activity (%)	N. of Patients	Clinical Category	Age	Sex	Long COVID (Yes/No)	Patient ID	IPGS
c.1039C>T	p.R347C	rs39750814	34	0.0000088	trans	100.6	57.2	1	2	32	M	Yes	P1	180
c.1520_1522del	p.F508del	rs113993960	n.a.	0.012	trans	13.9	57.2	1	2	32	M	Yes	P1	180
c.[713C>T;1520_1522del]	p.[A238V; F508del]	rs39750878; rs113993960	26; n.a.	n.a; 0.012	cis	9.2	54.6	1	2	30	M	Yes	P2	250
WT	WT	n.a.	n.a.	n.a.	cis	100 ^	54.6	1	2	30	M	Yes	P2	250
c.3154T>G	p.F1052V	rs15021278	31	0.009	trans	87.8	50.9	1	4	52	M	Yes	P3	−80
c.1520_1522del	p.F508del	rs113993960	n.a.	0.012	trans	13.9	50.9	1	4	52	M	Yes	P3	−80
c.202A>G	p.K68E	rs39750833	24	0.0001	trans	62.6	78.6	1	4	42	M	n.a.	P4	32
c.1873T>A	p.Y625N	rs760390633	24	0.000018	trans	94.6	78.6	1	4	42	M	n.a.	P4	32
c.A982A>G	p.I328V	n.a.	29	n.a.	trans	101	57.5	1	3	63	M	Yes	P5	215
c.1520_1522del	p.F508del	rs113993960	n.a.	0.012	trans	13.9	57.5	1	3	63	M	Yes	P5	215
215c.754G>A	p.A252T	n.a.	24	n.a.	trans	88.3	64.7	1	4	91	F	Yes	P6	−174
c.926C>A	p.A309D	n.a.	32	n.a.	trans	41.1	64.7	1	4	91	F	Yes	P6	−174
c.1624G>T	p.G542 *	rs11399395	39	0.0004	trans	0	51.55	1	3	77	F	n.a.	P7 °	176
c.1684G>A	p.V562I	rs1800097	24	0.0002	trans	103.1	51.55	1	3	77	F	n.a.	P7 °	176
c.3197G>A	p.R1066H	rs121909019	34	0.000076	trans	21.3	10.6	1	4	51	M	Yes	P8	−15
c.1585-1G>A	n.a.	rs76713772	26	0.0001	trans	0	10.6	1	4	51	M	Yes	P8	−15
c.[1516A>G;3503A>G]	p.[I506V;D1168G]	rs1800091; rs150326506	24; 28	0.0005; na	cis	95	87.55	2	1	65	M	No	P9	243
WT	WT	n.a.	n.a.	n.a.	cis	100 ^	87.55	2	2	69	M	n.a.	P10	276

° Patient P7 was deceased upon follow-up. * Complex allele 1 = c.[220>T; 3808G>A; c.601G>A], p.[R74W;D1270N; V201M]. ^ totally conserved activity of the wild-type allele. Patient P8 had a clinical diagnosis of cystic fibrosis.