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
|