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Table 2 SNVs, Indels, and exon deletions identified by the assay in Test Group

From: A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Patient ID

Gene

RefSeq

Exon or Intron

Mutation(s) by nucleotide

Mutation(s) by amino acid

Mutation type

Conventional method of detection

F01

FLCN

NM_144997

exon11

c.1285dupC

p.H429PfsX27

Frameshift insertion, protein truncation

Sanger Sequence

F02

FLCN

NM_144997

exon11

c.1285dupC

p.H429PfsX27

Frameshift insertion, protein truncation

Sanger Sequence

F03

FLCN

NM_144997

exon14

c.1579_1580insA

p.R527QfsX75

Frameshift deletion, protein truncation

Sanger Sequence

F04

FLCN

NM_144997

exon4

c.182_186dupACAGC

p.P63TfsX69

Frameshift deletion, protein truncation

Sanger Sequence

F05

FLCN

NM_144997

exon12

c.1360dupT

p.C454LfsX2

Frameshift deletion, protein truncation

Sanger Sequence

F06

FLCN

NM_144997

exon11

c.1285delC

p.H429TfsX39

Frameshift deletion, protein truncation

Sanger Sequence

F07

FLCN

NM_144997

exon9

c.946_947delAG

p.S316YfsX73

Frameshift deletion, protein truncation

Sanger Sequence

F08

FLCN

NM_144997

exon10

c.1156_1175del

p.S386DfsX63

Frameshift deletion, protein truncation

Sanger Sequence

F09

FLCN

NM_144997

exon14

c.1648_1658del

p.L550DfsX48

Frameshift deletion, protein truncation

Sanger Sequence

F10

FLCN

NM_144997

exon6

c.469_471delTTC

p.F157del

In-frame deletion

Sanger Sequence

F11

FLCN

NM_144997

exon13

c.1522_1524delAAG

p.K508del

In-frame deletion

Sanger Sequence

F12

FLCN

NM_144997

intron4

c.250–3_268del

---

Splice site

Sanger Sequence

F13

FLCN

NM_144997

exon6

c.507G > A

p.W169X

Nonsense mutation

Sanger Sequence

F14

FLCN

NM_144997

exon6

c.507G > A

p.W169X

Nonsense mutation

Sanger Sequence

F15

FLCN

NM_144997

intron13

c.1539–1G > A

---

Splice site

Sanger Sequence

F16

FLCN

NM_144997

exon1–3

c.-504–1355_-25 + 894 del

---

Large intragenic deletion

MLPA

F17

FLCN

NM_144997

exon14

c.1539–476_1740 + 1077 del

---

Large intragenic deletion

MLPA

F18

FLCN

NM_144997

exon9–14

c.872–562_1740 + ?a del

---

Large intragenic deletion

MLPA

F19

FLCN

NM_144997

exon9–14

c.872–562_1740 + ?a del

---

Large intragenic deletion

MLPA

  1. aThe breakpoint is within the 3′ flank of the FLCN gene, which was not included in the panel
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Respiratory Research

ISSN: 1465-993X

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