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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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