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

Table 1

Mutation panel used in routine testing in the Human Genetics Laboratory of the Oswaldo Cruz Institute.

No	Legacy name	cDNA HGVS name	Protein HGVS name	dbSNP ID	Method^1
1	F508del	c.1521_1523delCTT	p.Phe508del	rs113993960	Sanger sequencing
2	3120+1G>A	c.2988+1G>A	No protein	rs75096551	Real-time PCR
3	G542X	c.1624G>T	p.Gly542X	rs113993959	Real-time PCR
4	G85E	c.254G>A	p.Gly85Glu	rs75961395	Real-time PCR
5	R334W	c.1000C>T	p.Arg334Trp	rs121909011	Real-time PCR
6	3849+10KBC>T	c.3717+12191C>T	—	rs75039782	Real-time PCR
7	S4X	c.11C>A	p.Ser4X	rs397508173	Sanger sequencing
8	R1162X	c.3484C>T	p.Arg1162X	rs74767530	Sanger sequencing
9	N1303K	c.3909C>G	p.Asn1303Lys	rs80034486	Real-time PCR
10	P205S	c.613C>T	p.Pro205Ser	rs121908803	Real-time PCR
11	S549R	c.1547T>G	p.Ser549Arg	rs121909005	Sanger sequencing
12	Y1092X	c.3276C>A	p.Tyr10292X	rs121908761	Real-time PCR
13	R347P	c.1040G>C	p.Arg347Pro	rs77932196	Sanger sequencing
14	232del18	c.100_117delTTGTCAGACATATACCAA	p.Leu34_Gln39del	rs397508141	Sanger sequencing
15	R553X	c.1657C>T	p.Arg553X	rs74597325	Real-time PCR
16	W1282X	c.3846G>A	p.Trp1282X	rs77010898	Real-time PCR
17	2183del AA>G	c.2051_2052delAAinsG		rs121908799	Sanger sequencing
18	G551D	c.1652G>A	p.Gly551Asp	rs75527207	Sanger sequencing
19	2184delA	c.2052delA	p.Lys684AsnfsX38	rs121908746	Sanger sequencing
20	S549N-I	c.1646G>A or c.1646G>T	p.Ser549Asn or p.Ser549Ile	rs121908755	Sanger sequencing
21	120del23	—	—	—	Sanger sequencing
22	S168L	c.635C>T	p.Ser168Leu	rs869249241	Sanger sequencing
23	S1255X	c.3764C>A	p.Ser1255X	rs76649725	Real-time PCR
24	G1244E	c.3731G>A	p.Gly1244Glu	rs267606723	Sanger sequencing
25	CFTRdup2-3	—	—	—	MLPA^2
26	Del25-26	—	—	—	MLPA
27	del25-27CORTBP2	—	—	—	MLPA

¹Methodology previously used to screening mutations at the Human Genetics Laboratory of the Oswaldo Cruz Institute. ²Multiplex ligation-dependent probe amplification.