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
Method1
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
—
—
—
MLPA2
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.