Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

Table 2

CFTR variants identified through next-generation sequencing.

No	Legacy name	cDNA HGVS name	Protein HGVS name	Exon/intron	dbSNP ID	Classification^1	Mutation panel^2	Alleles (in 108 alleles)	Mutation type
01	R75Q^4	c.224G>A	p.Arg75Gln	Exon 3	rs1800076	Non-CF-causing	No	1	Missense
02	Q98X^4	c.292C>T	p.Gln98X	Exon 4	rs397508461	CF-causing	No	1	Nonsense
03	R117H^4	c.350G>A	p.Arg117His	Exon 4	rs78655421	Varying clinical consequence	No	1	Missense
04	I148T^4	c.443T>C	p.Ile148Thr	Exon 4	rs35516286	Non-CF-causing	No	1	Missense
05	711+1G>T^4	c.579+1G>T	—	Intron 5	rs77188391	CF-causing	Yes	1	Intronic
06	L206W^4	c.617T>G	p.Leu206Trp	Exon 6	rs121908752	CF-causing	No	2	Missense
07	R347H^4	c.1040G>A	p.Arg347His	Exon 8	rs77932196	CF-causing	No	1	Missense
08	S434X^4	c.1301C>A	p.Ser434X	Exon 10	rs367934560	CF-causing	No	1	Nonsense
09	A559T^4	c.1675G>A	p.Ala559Thr	Exon 12	rs75549581	CF-causing	No	2	Missense
10	A561E^4	c.1682C>A	p.Ala561Glu	Exon 13	rs121909047	CF-causing	No	1	Missense
11	G576A^4	c.1727G>C	p.Gly576Ala	Exon 13	rs1800098	Non-CF-causing	No	2	Missense
12	S589N^4	c.1766G>A	p.Ser589Asn	Exon 13	rs397508300	—	No	2	Missense
13	R764X^4	c.2290C>T	p.Arg764X	Exon 14	rs121908810	CF-causing	No	1	Nonsense
14	E831X^4	c.2491G>T	p.Glu831X	Exon 15	rs397508387	CF-causing	No	1	Nonsense
15	Y913X^4	c.2739T>A	p.Tyr913X	Exon 17	rs149790377	CF-causing	No	2	Nonsense
16	V938Gfs37^4,5	c.2812_2813insG	p.Val938GlyfsX37	Exon 17	Novel	—	No	1	Frameshift
17	L997F^4	c.2991G>C	p.Leu997Phe	Exon 19	rs1800111	Non-CF-causing	No	1	Missense
18	3199del^l4	c.3067_3072delATAGTG	—	Exon 19	rs121908767	—	No	1	Deletion
19	3272-26A>G^4	c.3140-26A>G	—	Intron 19	rs76151804	CF-causing	No	2	Intronic
20	R1066C^4	c.3196C>T	p.Arg1066Cys	Exon 20	rs78194216	CF-causing	No	4	Missense
21	W1089X^4	c.3266G>A	p.Trp1089X	Exon 20	rs78802634	CF-causing	No	2	Nonsense
22	W1098C^4	c.3294G>T	p.Trp1098Cys	Exon 20	rs397508533	CF-causing	No	1	Frameshift
23	Q1100P^4	c.3299A>C	p.Gln1100Pro	Exon 20	rs397508535	—	No	1	Missense
24	I1234V^4	c.3700A>G	p.Ile1234Val	Exon 22	rs75389940	CF-causing	No	1	Missense
25	232del18	c.100_117delTTGTCAGACATATACCAA	p.Leu34_Gln39del	Exon 2	rs397508141	—	No	1	Deletion
26	G85E	c.254G>A	p.Gly85Glu	Exon 3	rs75961395	CF-causing	Yes	7	Missense
27	S168L	c.635C>T	p.Ser168Leu	Exon 5	rs869249241	—	No	1	Missense
28	P205S	c.613C>T	p.Pro205Ser	Exon 6	rs121908803	CF-causing	No	1	Missense
29	R334W	c.1000C>T	p.Arg334Trp	Exon 8	rs121909011	CF-causing	Yes	2	Missense
30	F508del	c.1521_1523delCTT	p.Phe508del	Exon 11	rs113993960	CF-causing	Yes	29	Deletion
31	S549R	c.1547T>G	p.Ser549Arg	Exon 12	rs121909005	CF-causing	No	1	Missense
32	G542X	c.1624G>T	p.Gly542X	Exon 12	rs113993959	CF-causing	Yes	9	Nonsense
33	R668C	c.2002C>T	p.Arg668Cys	Exon 14	rs1800100	Non-CF-causing	No	3	Missense
34	2183delAA>G	c.2051_2052delAAinsG	p.Lys684SerfsX38	Exon 14	rs121908799	CF-causing	No	2	Frameshift
35	3120+1G>A	c.2988+1G>A	—	Intron 18	rs75096551	CF-causing	Yes	12	Intronic
36	Y1092X	c.3276C>A	p.Tyr10292X	Exon 20	rs121908761	CF-causing	No	2	Nonsense
37	R1162X	c.3484C>T	p.Arg1162X	Exon 22	rs74767530	CF-causing	Yes	1	Nonsense
38	3849+10KBC>T	c.3717+12191C>T	—	Intron 22	rs75039782	CF-causing	Yes	2	Intronic
39	N1303K	c.3909C>G	p.Asn1303Lys	Exon 24	rs80034486	CF-causing	Yes	1	Missense

¹Classification based on CFTR2 database (clinical and functional translation of CFTR). ²23 ACMG/ACOG mutation panel—American College of Medical Genetics and the American College of Obstetricians and Gynecologists. ³Number of CFTR alleles found in this study. ⁴Twenty-four mutations found in the next-generation sequencing performed in this study. ⁵Novel mutation found in the next-generation sequencing performed in this study.