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Mutations in
GRN
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1
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GRN Asp33
(g.99C>T)
Not pathogenic
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EX2
ParaGran |
Gass J, 2006
van der Zee J, 2007
Schymick J, 2007
Le Ber I, 2007
Mukherjee O, 2008
Sleegers K, 2008
Cortini F, 2008
Chiang HH, 2008
Guerreiro RJ, 2010
Del Bo R, 2011
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2
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GRN Pro34
(g.102C>T)
Pathogenic nature unclear
|
EX2
ParaGran |
van der Zee J, 2007
Le Ber I, 2007
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3
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GRN Gly93
(g.517G>A)
Not pathogenic
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EX4
GranG |
Bronner IF, 2007
van der Zee J, 2007
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4
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GRN Ser106Asn
(g.555G>A)
Not pathogenic
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EX4
GranG |
van der Zee J, 2007
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5
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GRN Asp128
(g.1098T>C)
Not pathogenic
|
EX5
GranF |
Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011
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6
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GRN Cys158Tyr
(g.1288G>A)
Not pathogenic
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EX6
GranF |
van der Zee J, 2007
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7
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GRN Arg212Gln
(g.1563G>A)
Not pathogenic
|
EX7
GranB |
van der Zee J, 2007
Brouwers N, 2008
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8
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GRN Thr220Ser
(g.1586A>T)
Not pathogenic
|
EX7
GranB |
van der Zee J, 2007
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9
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GRN Pro248Leu
(g.1907C>T)
Pathogenic nature unclear
|
EX8
GranB |
van der Zee J, 2007
Le Ber I, 2007
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10
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GRN Ser258Asn
(g.1937G>A)
Pathogenic nature unclear
|
EX8
GranB |
van der Zee J, 2007
Le Ber I, 2007
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11
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GRN Leu261Ile
(g.1945C>A)
Not pathogenic
|
EX8
InterBA |
van der Zee J, 2007
Brouwers N, 2008
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12
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GRN Thr268
(g.1968G>A)
Not pathogenic
|
EX8
InterBA |
van der Zee J, 2007
Sleegers K, 2008
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13
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GRN Ser301
(g.2266G>A)
Not pathogenic
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EX9
GranA |
Gass J, 2006
van der Zee J, 2007
Sleegers K, 2008
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14
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GRN Lys332
(g.2448G>A)
Not pathogenic
|
EX10
GranA |
van der Zee J, 2007
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15
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GRN Arg418Gln
(g.2924G>A)
Not pathogenic
|
EX11
InterCD |
Gass J, 2006
Bronner IF, 2007
van der Zee J, 2007
Le Ber I, 2007
Sleegers K, 2008
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16
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GRN Arg432Cys
(g.2965C>T)
Pathogenic nature unclear
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EX11
InterCD |
van der Zee J, 2007
Le Ber I, 2007
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17
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GRN Arg433Trp
(g.2968C>T)
Not pathogenic
|
EX11
InterCD |
Gass J, 2006
Spina S, 2007
van der Zee J, 2007
Schymick J, 2007
Beck J, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009
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18
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GRN Pro470Leu
(g.3080C>T)
Not pathogenic
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EX11
GranD |
van der Zee J, 2007
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19
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GRN Cys475
(g.3188C>T)
Not pathogenic
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EX12
GranD |
van der Zee J, 2007
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20
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GRN Cys495
(g.3248C>T)
Pathogenic nature unclear
|
EX12
GranD |
van der Zee J, 2007
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21
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GRN Gly515Ala
(g.3307G>C)
Not pathogenic
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EX12
InterDE |
Gass J, 2006
van der Zee J, 2007
Brouwers N, 2008
Guerreiro RJ, 2010
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22
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GRN Val550Ile
(g.3500G>A)
Not pathogenic
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EX13
GranE |
van der Zee J, 2007
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23
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GRN Cys565
(g.3547C>T)
Not pathogenic
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EX13
GranE |
van der Zee J, 2007
Le Ber I, 2007
Guerreiro RJ, 2010
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Selection: Publication ID = 441
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