|  |
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|
|
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| |
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1
|
FUS Pro21His
(g.2322C>A)
Not pathogenic
|
EX3
QGSY-Region |
Belzil VV, 2009
|
|  |
|
2
|
FUS Gly49
(g.2407C>A)
Not pathogenic
|
EX3
QGSY-Region |
Belzil VV, 2009
|
| |
|
3
|
FUS Gly51
(g.2413C>T)
Not pathogenic
|
EX3
QGSY-Region |
Belzil VV, 2009
|
| |
|
4
|
FUS Ser57del
(g.2430_2432delCTT)
|
EX3
QGSY-Region |
Belzil VV, 2009
|
| |
|
5
|
FUS Asn63Ser
(g.2448A>G)
Not pathogenic
|
EX3
QGSY-Region |
Belzil VV, 2009
|
| |
|
6
|
FUS Gly156Glu
(g.4126G>A)
|
EX5
QGSY-Region |
Ticozzi N, 2009
|
| |
|
7
|
FUS Gly172_Gly175del
(g.4180_4185delGAGGTGGAGGTG)
Not pathogenic
|
EX5-IVS5
Gly-Rich |
Corrado L, 2010
|
| |
|
8
|
FUS Gly174_Gly175del; delGG
(g.4180_4185delGAGGTG)
Not pathogenic
|
EX5-IVS5
Gly-Rich |
Kwiatkowski TJ Jr, 2009
Van Langenhove T, 2010
Corrado L, 2010
Hewitt C, 2010
|
| |
|
9
|
FUS Gly175_Gly176ins; insGG
(g.4185_4186insGAGGTG)
|
IVS5
Gly-Rich |
Kwiatkowski TJ Jr, 2009
|
| |
|
10
|
FUS Gly191Ser
(g.4772G>A)
Pathogenic nature unclear
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
11
|
FUS Gln210His
(g.4831G>C)
Not pathogenic
|
EX6
Gly-Rich |
Groen EJ, 2010
|
| |
|
12
|
FUS Arg216Cys
(g.4857C>T)
Pathogenic nature unclear
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
13
|
FUS Gly225Val
(g.4875G>T)
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
14
|
FUS Gly226Ser
(g.4877G>A)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
15
|
FUS Gly228_Gly230delGGG
(g.4879_4887del)
Not pathogenic
|
EX6
Gly-Rich |
Belzil VV, 2009
Hewitt C, 2010
|
| |
|
16
|
FUS Gly229_Gly230delGG
(g.4882_4887delCGGCGG)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
17
|
FUS Gly228_Gly230delGGG
(g.4882_4890del)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
18
|
FUS Gly227_Gly230delGGGG
(g.4882_4893del)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
19
|
FUS Gly229_Gly230delGG
(g.4885_4890delCGGTGG)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
20
|
FUS Gly230delG
(g.4885_4887del)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
21
|
FUS Gly230_Tys231insG
(g.4887_4888insCGG)
Not pathogenic
|
EX6
Gly-Rich |
Belzil VV, 2009
Corrado L, 2010
|
| |
|
22
|
FUS Gly230_Tys231insGG
(g.4887_4888insCGGCGG)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
23
|
FUS Gly229_Gly230delGG
(g.4888_4893delTGGTGG)
Not pathogenic
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
24
|
FUS Gly230Cys
(g.4889G>T)
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
25
|
FUS Arg234Cys
(g.4901C>T)
|
EX6
Gly-Rich |
Corrado L, 2010
|
| |
|
26
|
FUS Arg234Leu
(g.4902G>T)
|
EX6
Gly-Rich |
Ticozzi N, 2009
|
| |
|
27
|
FUS Arg244Cys
(g.4931C>T)
|
EX6
Gly-Rich |
Kwiatkowski TJ Jr, 2009
|
| |
|
28
|
FUS Met254Val
(g.4961A>G)
Pathogenic nature unclear
|
EX6
Gly-Rich |
Van Langenhove T, 2010
|
| |
|
29
|
FUS Ser402_Pro411delinsGGGG
(g.10096_10124delins)
|
EX12
Gly-Rich |
DeJesus-Hernandez M, 2010
|
| |
|
30
|
FUS Ser462Phe
(g.10620C>T)
Pathogenic nature unclear
|
EX13
C-term |
Groen EJ, 2010
|
| |
|
31
|
FUS Gly466ValfsX15
(g.10474A>G)
|
IVS13
RGG-domain |
DeJesus-Hernandez M, 2010
|
| |
|
32
|
FUS Gly507Asp
(g.10875G>A)
|
EX14
RGG-domain |
Corrado L, 2010
Hewitt C, 2010
|
| |
|
33
|
FUS Arg514Gly
(g.10895A>G)
|
EX14
C-Term |
Vance C, 2009
|
| |
|
34
|
FUS Arg514Ser,Gly515Cys
(g.[11185G>T;11186G>T])
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
35
|
FUS His517Gln
(g.11194C>G)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
36
|
FUS Arg518Lys
(g.11196G>A)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
37
|
FUS Arg521Gly
(g.11204C>T)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
Ticozzi N, 2009
|
| |
|
38
|
FUS Arg521Cys
(g.11204C>T)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
Vance C, 2009
Belzil VV, 2009
Ticozzi N, 2009
Groen EJ, 2010
Corrado L, 2010
Tateishi T, 2010
Blair IP, 2010
Drepper C, 2011
|
| |
|
39
|
FUS Arg521His
(g.11205G>A)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
Vance C, 2009
Belzil VV, 2009
Groen EJ, 2010
Van Langenhove T, 2010
Van Damme P, 2010
|
| |
|
40
|
FUS Arg522Gly
(g.11207A>G)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
41
|
FUS Arg522
(g.11209G>A)
Not pathogenic
|
EX15
C-Term |
Ticozzi N, 2009
Drepper C, 2011
|
| |
|
42
|
FUS Arg524Trp
(g.11213A>T)
|
EX15
|
Hewitt C, 2010
|
| |
|
43
|
FUS Arg524Thr
(g.11214G>C)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
44
|
FUS Arg524Ser
(g.11215G>C)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
|
45
|
FUS Pro525Leu
(g.11217C>T)
|
EX15
C-Term |
Kwiatkowski TJ Jr, 2009
|
| |
