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1
|
GRN delGRN[DR184]
()
|
Complete gene
Complete protein |
Gijselinck I, 2008
|
|  |
|
2
|
GRN IVS1+3A>T
(g.-3828A>T)
|
IVS1
Complete protein |
Le Ber I, 2007
|
| |
|
3
|
GRN IVS1+5G>C
(g.-3826G>C)
|
IVS1
Complete protein |
Cruts M, 2006
Brouwers N, 2007
|
| |
|
4
|
GRN delGRN[French]
(g.-95_3490del)
|
IVS1-IVS12
Complete protein |
Rovelet-Lecrux A, 2008
|
| |
|
5
|
GRN Met1
(g.1A>G)
|
EX2
Signal peptide |
Le Ber I, 2008
|
| |
|
6
|
GRN Met1
(g.2T>C)
|
EX2
Signal peptide |
Baker M, 2006
Gass J, 2006
|
| |
|
7
|
GRN Met1
(g.3G>A)
|
EX2
Signal peptide |
Cruts M, 2006
|
| |
|
8
|
GRN Val5Leu
(g.13G>C)
Pathogenic nature unclear
|
EX2
Signal peptide |
López de Munain A, 2008
|
| |
|
9
|
GRN Trp7Arg
(g.19T>C)
Pathogenic nature unclear
|
EX2
Signal peptide |
Le Ber I, 2008
|
| |
|
10
|
GRN Ala9Asp
(g.26C>A)
|
EX2
Signal peptide |
Mukherjee O, 2006
Gass J, 2006
Spina S, 2007
Ghetti B, 2008
Mukherjee O, 2008
Spina S, 2008
Kelley BJ, 2009
|
| |
|
11
|
GRN Leu14
(g.42G>A)
Not pathogenic
|
EX2
Signal peptide |
Guerreiro RJ, 2008
Guerreiro RJ, 2010
|
| |
|
12
|
GRN Arg19Trp
(g.55C>T)
Not pathogenic
|
EX2
ParaGran |
Gass J, 2006
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011
|
| |
|
13
|
GRN Asp22fs
(g.63_64insC)
|
EX2
ParaGran |
Gass J, 2006
Pietroboni AM, 2011
|
| |
|
14
|
GRN Cys31fs
(g.90_91insCTGC)
|
EX2
ParaGran |
Baker M, 2006
Gass J, 2006
Beck J, 2008
Rohrer JD, 2008
Rohrer JD, 2009
Yu CE, 2010
Rohrer JD, 2010
|
| |
|
15
|
GRN Asp33Glu
(g.99C>A)
Pathogenic nature unclear
|
EX2
ParaGran |
Brouwers N, 2008
Nuytemans K, 2008
|
| |
|
16
|
GRN Asp33
(g.99C>T)
Not pathogenic
|
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
|
| |
|
17
|
GRN Gly35fs
(g.102delC)
|
EX2
ParaGran |
Gass J, 2006
Chiang HH, 2008
Skoglund L, 2009
|
| |
|
18
|
GRN Pro34
(g.102C>T)
Pathogenic nature unclear
|
EX2
ParaGran |
van der Zee J, 2007
Le Ber I, 2007
|
| |
|
19
|
GRN Gly35Arg
(g.103G>A)
Pathogenic nature unclear
|
EX2
ParaGran |
Galimberti D, 2008
Cortini F, 2008
|
| |
|
20
|
GRN IVS2+1G>A
(g.139G>A)
|
IVS2
Complete protein |
Gass J, 2006
Boeve BF, 2006
Pickering-Brown SM, 2006
Kelley BJ, 2009
|
| |
|
21
|
GRN Thr52fs
(g.277delA)
|
EX3
InterParaG |
Gass J, 2006
Kelley BJ, 2009
Lindquist S, 2009
|
| |
|
22
|
GRN Thr52Hisfs
(g.279delA)
Pathogenic nature unclear
|
EX3
|
Kelley BJ, 2010
|
| |
|
23
|
GRN Leu53Pro
(g.281T>C)
Pathogenic nature unclear
|
EX3
InterParaG |
Skoglund L, 2007
|
| |
|
24
|
GRN Arg55Trp
(g.286A>T)
Not pathogenic
|
EX3
InterParaG |
Guerreiro RJ, 2010
|
| |
|
25
|
GRN Ala69Thr
(g.328G>A)
Not pathogenic
|
EX3
GranG |
Guerreiro RJ, 2010
|
| |
|
26
|
GRN Thr76
(g.351C>T)
Not pathogenic
|
EX3
GranG |
Guerreiro RJ, 2010
|
| |
|
27
|
GRN Gly79fs
(g.357_358delAG)
|
EX3
GranG |
Gass J, 2006
|
| |
|
28
|
GRN Ser82fs
(g.366delC)
|
EX3
GranG |
Bronner IF, 2007
|
| |
|
29
|
GRN Phe86fs
(g.378delC)
|
EX3
GranG |
Gijselinck I, 2008
|
| |
|
30
|
GRN Glu88
(g.387G>A)
Pathogenic nature unclear
|
EX3
GranG |
Gass J, 2006
|
| |
|
31
|
GRN Ala89
(g.505C>T)
Not pathogenic
|
EX4
GranG |
Guerreiro RJ, 2010
|
| |
|
32
|
GRN Ala89fs;IVS3+2T>C
(g.389T>C)
|
IVS3
GranG |
Gijselinck I, 2008
|
| |
|
33
|
GRN Gly93
(g.517G>A)
Not pathogenic
|
EX4
GranG |
Bronner IF, 2007
van der Zee J, 2007
|
| |
|
34
|
GRN Cys105Arg
(g.551T>C)
Pathogenic nature unclear
|
EX4
GranG |
Gass J, 2006
|
| |
|
35
|
GRN Ser106Asn
(g.555G>A)
Not pathogenic
|
EX4
GranG |
van der Zee J, 2007
|
| |
|
36
|
GRN Asp108
(g.562C>T)
Not pathogenic
|
EX4
GranG |
Guerreiro RJ, 2010
|
| |
|
37
|
GRN Arg110X
(g.566C>T)
|
EX4
GranG |
Van Deerlin VM, 2007
Le Ber I, 2008
Yu CE, 2010
|
| |
|
38
|
GRN Arg110Gln
(g.567G>A)
Pathogenic nature unclear
|
EX4
GranG |
Sleegers K, 2008
|
| |
|
39
|
GRN Asn118fs
(g.1064delG)
|
EX5
interGF |
Le Ber I, 2008
Gijselinck I, 2008
|
| |
|
40
|
GRN Asn119del
(g.1069_1071delAAC)
Not pathogenic
|
EX5
InterGF |
Guerreiro RJ, 2010
|
| |
|
41
|
GRN Ser120Tyr
(g.1073C>A)
Not pathogenic
|
EX5
InterGF |
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011
|
| |
|
42
|
GRN Val121fs
(g.1075delG)
|
EX5
InterGF |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
43
|
GRN Ile124Thr
(g.1085T>C)
Pathogenic nature unclear
|
EX5
GranF |
Sleegers K, 2008
|
| |
|
44
|
GRN Gln125X
(g.1087C>T)
|
EX5
GranF |
Baker M, 2006
Cruts M, 2006
Bronner IF, 2007
|
| |
|
45
|
GRN Pro127fs
(g.1094_1095delCT)
|
EX5
GranF |
Cruts M, 2006
Le Ber I, 2008
|
| |
|
46
|
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
|
| |
|
47
|
GRN Gln130fs
(g.1098_1101delTAGT)
|
EX5
GranF |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
48
|
GRN Gln130fs
(g.1102_1105delCAGT)
|
EX5
GranF |
Baker M, 2006
Gass J, 2006
Beck J, 2008
Finch N, 2009
Carecchio M, 2009
Yu CE, 2010
Rohrer JD, 2010
|
| |
|
49
|
GRN Pro134
(g.1116G>A)
Not pathogenic
|
EX5
GranF |
Guerreiro RJ, 2010
|
| |
|
50
|
GRN Thr138
(g.1128G>A)
Pathogenic nature unclear
|
EX5
GranF |
Sleegers K, 2008
|
| |
|
51
|
GRN Cys139Arg
(g.1129T>C)
Pathogenic nature unclear
|
EX5
GranF |
Brouwers N, 2008
Finch N, 2009
Bernardi L, 2009
|
| |
|
52
|
GRN Val141Ile
(g.1135G>A)
Not pathogenic
|
EX5
GranF |
Schymick J, 2007
|
| |
|
53
|
GRN Ala155fs
(g.1277G>A)
|
IVS5
GranF |
Gass J, 2006
Le Ber I, 2008
|
| |
|
54
|
GRN Cys157fs
(g.1283_1289delCTGCTGT)
|
EX6
GranF |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
55
|
GRN Cys158Tyr
(g.1288G>A)
Not pathogenic
|
EX6
GranF |
van der Zee J, 2007
|
| |
|
56
|
GRN Gly168Ser
(g.1317G>A)
Pathogenic nature unclear
|
EX6
GranF |
Pickering-Brown SM, 2008
|
| |
|
57
|
GRN Ala169
(g.1322C>G)
Not pathogenic
|
EX6
GranF |
Guerreiro RJ, 2010
|
| |
|
58
|
GRN Arg177His
(g.1345G>A)
Pathogenic nature unclear
|
EX6
GranF |
López de Munain A, 2008
|
| |
|
59
|
GRN Thr182Met
(g.1360C>T)
Not pathogenic
|
EX6
InterFB |
Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010
|
| |
|
60
|
GRN Thr182
(g.1361G>A)
Not pathogenic
|
EX6
InterFB |
Guerreiro RJ, 2010
|
| |
|
61
|
GRN Arg198fs
(g.1407_1408delAG)
|
EX6
InterFB |
Finch N, 2009
|
| |
|
62
|
GRN Ala199Val
(g.1411C>T)
Pathogenic nature unclear
|
EX6
interFB |
Beck J, 2008
Rohrer JD, 2010
|
| |
|
63
|
GRN Ser203fs
(g.1531_1532insC)
|
EX7
interFB |
Beck J, 2008
Rohrer JD, 2010
|
| |
|
64
|
GRN Arg212Gln
(g.1563G>A)
Not pathogenic
|
EX7
GranB |
van der Zee J, 2007
Brouwers N, 2008
|
| |
|
65
|
GRN Thr220Ser
(g.1586A>T)
Not pathogenic
|
EX7
GranB |
van der Zee J, 2007
|
| |
|
66
|
GRN Cys221Ser
(g.1590G>C)
Not pathogenic
|
EX7
GranB |
Guerreiro RJ, 2010
|
| |
|
67
|
GRN Ser226fs
(g.1603_1604delCA)
|
EX7
GranB |
Gass J, 2006
Van Deerlin VM, 2007
Davion S, 2007
Coppola G, 2008
Yu CE, 2010
|
| |
|
68
|
GRN Pro233Gln
(g.1626C>A)
Pathogenic nature unclear
|
EX7
GranB |
Bronner IF, 2007
|
| |
|
69
|
GRN Asn236
(g.1636C>T)
Pathogenic nature unclear
|
EX7
GranB |
Gass J, 2006
|
| |
|
70
|
GRN Val200fs; IVS7+1G>A
(g.1637G>A)
|
IVS7
InterFB |
Masellis M, 2006
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
71
|
GRN Val200fs
(g.1637G>C)
|
IVS7
InterFB |
Gass J, 2006
|
| |
|
72
|
GRN IVS7-3C>G
(g.1870C>G)
Pathogenic nature unclear
|
IVS7
GranB |
Benussi L, 2008
|
| |
|
73
|
GRN Ala237fs
(g.1871A>G)
|
IVS7
GranB |
Behrens MI, 2007
Spina S, 2007
Leverenz JB, 2007
Davion S, 2007
Ghetti B, 2008
Mukherjee O, 2008
|
| |
|
74
|
GRN Ala237fs
(g.1872G>A)
|
IVS7
GranB |
López de Munain A, 2008
Moreno F, 2009
|
| |
|
75
|
GRN Pro248Leu
(g.1907C>T)
Pathogenic nature unclear
|
EX8
GranB |
van der Zee J, 2007
Le Ber I, 2007
|
| |
|
76
|
GRN Cys253X
(g.1923_1924delTG)
|
EX8
GranB |
Gass J, 2006
Le Ber I, 2008
|
| |
|
77
|
GRN Ser258Asn
(g.1937G>A)
Pathogenic nature unclear
|
EX8
GranB |
van der Zee J, 2007
Le Ber I, 2007
|
| |
|
78
|
GRN Lys259X
(g.1939A>T)
|
EX8
GranB |
Schlachetzki JC, 2009
|
| |
|
79
|
GRN Leu261Ile
(g.1945C>A)
Not pathogenic
|
EX8
InterBA |
van der Zee J, 2007
Brouwers N, 2008
|
| |
|
80
|
GRN Ser262
(g.1950C>T)
Not pathogenic
|
EX8
InterBA |
Guerreiro RJ, 2010
|
| |
|
81
|
GRN Thr268
(g.1968G>A)
Not pathogenic
|
EX8
InterBA |
van der Zee J, 2007
Sleegers K, 2008
|
| |
|
82
|
GRN Thr272fs
(g.1977_1980delCACT)
|
EX8
InterBA |
Benussi L, 2008
Le Ber I, 2008
Borroni B, 2008
Benussi L, 2008
Tremolizzo L, 2009
Carecchio M, 2009
Yu CE, 2010
|
| |
|
83
|
GRN Ala237fs
(g.1999_2000insCTGA)
|
IVS8
GranB |
Cruts M, 2006
|
| |
|
84
|
GRN Val279fs;IVS8-1G>C
(g.2198G>C)
|
IVS8
InterBA |
Gass J, 2006
Coppola G, 2008
|
| |
|
85
|
GRN Glu287Asp
(g.2224G>C)
Pathogenic nature unclear
|
EX9
GranA |
Gass J, 2006
|
| |
|
86
|
GRN Tyr294X
(g.2245T>G)
|
EX9
GranA |
Steinbach P, 2009
|
| |
|
87
|
GRN Gln300X
(g.2261C>T)
|
EX9
GranA |
Beck J, 2008
Rohrer JD, 2009
|
| |
|
88
|
GRN Ser301
(g.2266G>A)
Not pathogenic
|
EX9
GranA |
Gass J, 2006
van der Zee J, 2007
Sleegers K, 2008
|
| |
|
89
|
GRN Gly302fs
(g.2266_2267insTG)
|
EX9
GranA |
Guerreiro RJ, 2008
|
| |
|
90
|
GRN Ala303fs
(g.2270_2271insG)
|
EX9
GranA |
Gijselinck I, 2008
|
| |
|
91
|
GRN Trp304fs
(g.2272delC)
|
EX9
GranA |
Lladó A, 2007
|
| |
|
92
|
GRN Trp304fs
(g.2273_2274insTG)
|
EX9
GranA |
Gass J, 2006
Kelley BJ, 2009
|
| |
|
93
|
GRN Trp304X
(g.2274G>A)
|
EX9
GranA |
Gass J, 2006
Van Deerlin VM, 2007
Yu CE, 2010
|
| |
|
94
|
GRN Val279fs
(g.2297G>A)
|
IVS9
GranA |
Baker M, 2006
Gass J, 2006
|
| |
|
95
|
GRN Cys314X
(g.2394C>A)
|
EX10
GranA |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
96
|
GRN Ala324Thr
(g.2422G>A)
Not pathogenic
|
EX10
GranA |
Gass J, 2006
Schymick J, 2007
Beck J, 2008
Pickering-Brown SM, 2008
Sleegers K, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009
|
| |
|
97
|
GRN Lys332
(g.2448G>A)
Not pathogenic
|
EX10
GranA |
van der Zee J, 2007
|
| |
|
98
|
GRN Gly333fs
(g.2450delG)
|
EX10
GranA |
Gass J, 2006
Mesulam M, 2007
Kelley BJ, 2009
|
| |
|
99
|
GRN Gln337X
(g.2461C>T)
|
EX10
InterAC |
Van Deerlin VM, 2007
Yu CE, 2010
|
| |
|
100
|
GRN His340fs
(g.2466delG)
|
EX10
GranA |
Benussi L, 2008
|
| |
|
101
|
GRN Gln341X
(g.2473C>T)
|
EX10
GranA |
Benussi L, 2008
|
| |
|
102
|
GRN Pro357fs
(g.2522delC)
|
EX10
InterAC |
López de Munain A, 2008
|
| |
|
103
|
GRN Gln358X
(g.2524C>T)
|
EX10
InterAC |
Spina S, 2008
|
| |
|
104
|
GRN Cys366fs
(g.2547_2548delCT)
|
EX10
GranC |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
105
|
GRN Asp376Asn
(g.2578G>A)
Not pathogenic
|
EX10
GranC |
Guerreiro RJ, 2010
|
| |
|
106
|
GRN Thr382fs
(g.2596_2597insA)
|
EX10
GranC |
Bruni AC, 2007
Frangipane F, 2008
|
| |
|
107
|
GRN Thr382fs
(g.2597delC)
|
EX10
GranC |
Baker M, 2006
Gass J, 2006
Kelley BJ, 2009
|
| |
|
108
|
GRN Trp386X
(g.2609G>A)
|
EX10
GranC |
Baker M, 2006
Gass J, 2006
Lindquist S, 2009
Yu CE, 2010
|
| |
|
109
|
GRN Pro392
(g.2628A>C)
Pathogenic nature unclear
|
EX10
GranC |
Schymick J, 2007
|
| |
|
110
|
GRN Ser398Leu
(g.2864C>T)
Not pathogenic
|
EX11
GranC |
Guerreiro RJ, 2010
|
| |
|
111
|
GRN Gln401X
(g.2872C>T)
|
EX11
GranC |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
112
|
GRN Thr409
(g.2898G>A)
Not pathogenic
|
EX11
GranC |
Guerreiro RJ, 2010
|
| |
|
113
|
GRN Val411fs
(g.2902_2903delGT)
|
EX11
GranC |
Bronner IF, 2007
|
| |
|
114
|
GRN Ala412fs
(g.2903_2904insGT)
|
EX11
GranC |
Le Ber I, 2007
Le Ber I, 2008
|
| |
|
115
|
GRN Gly414Val
(g.2912G>T)
Not pathogenic
|
EX11
GranC |
Bronner IF, 2007
|
| |
|
116
|
GRN Gln415X
(g.2914C>T)
|
EX11
GranC |
Pickering-Brown SM, 2008
|
| |
|
117
|
GRN Arg418X
(g.2923C>T)
|
EX11
InterCD |
Baker M, 2006
Gass J, 2006
Van Deerlin VM, 2007
Schlachetzki JC, 2009
Yu CE, 2010
|
| |
|
118
|
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
|
| |
|
119
|
GRN Arg432Cys
(g.2965C>T)
Pathogenic nature unclear
|
EX11
InterCD |
van der Zee J, 2007
Le Ber I, 2007
|
| |
|
120
|
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
|
| |
|
121
|
GRN Arg433Gln
(g.2969G>A)
Not pathogenic
|
EX11
InterCD |
Mukherjee O, 2008
Guerreiro RJ, 2010
|
| |
|
122
|
GRN His447
(g.3012C>T)
Pathogenic nature unclear
|
EX11
GranD |
Bronner IF, 2007
Sleegers K, 2008
Finch N, 2009
|
| |
|
123
|
GRN Pro451Leu
(g.3023C>T)
Pathogenic nature unclear
|
EX11
GranD |
Brouwers N, 2008
|
| |
|
124
|
GRN Pro458Leu
(g.3044C>T)
Not pathogenic
|
EX11
GranD |
Schymick J, 2007
|
| |
|
125
|
GRN Cys466fs
(g.3066_3067insC)
|
EX11
GranD |
Gass J, 2006
Kelley BJ, 2009
|
| |
|
126
|
GRN Gln468X
(g.3073C>T)
|
EX11
GranD |
Baker M, 2006
Yu CE, 2010
|
| |
|
127
|
GRN Leu469Phe
(g.3078G>T)
Pathogenic nature unclear
|
EX11
GranD |
Beck J, 2008
Rohrer JD, 2009
|
| |
|
128
|
GRN Pro470Leu
(g.3080C>T)
Not pathogenic
|
EX11
GranD |
van der Zee J, 2007
|
| |
|
129
|
GRN IVS11-15_EX12+177del; Δ12
(g.3162_3354del)
|
EX12
GranD; InterDE; GranE |
Pickering-Brown SM, 2006
Finch N, 2009
|
| |
|
130
|
GRN Cys474fs
(g.3183_3184delTG)
|
EX12
GranD |
Spina S, 2008
|
| |
|
131
|
GRN Cys474
(g.3185C>T)
Pathogenic nature unclear
|
EX12
GranD |
Gass J, 2006
|
| |
|
132
|
GRN Cys475
(g.3188C>T)
Not pathogenic
|
EX12
GranD |
van der Zee J, 2007
|
| |
|
133
|
GRN Arg493X
(g.3240C>T)
|
EX12
GranD |
Huey ED, 2006
Gass J, 2006
Pickering-Brown SM, 2006
Mesulam M, 2007
Spina S, 2007
Van Deerlin VM, 2007
Davion S, 2007
Rademakers R, 2007
Ghetti B, 2008
Spina S, 2008
Kelley BJ, 2009
Rohrer JD, 2010
Yu CE, 2010
|
| |
|
134
|
GRN Cys495
(g.3248C>T)
Pathogenic nature unclear
|
EX12
GranD |
van der Zee J, 2007
|
| |
|
135
|
GRN Glu498fs
(g.3257_3261delAGTGG)
|
EX12
InterDE |
Beck J, 2008
Le Ber I, 2008
Rohrer JD, 2010
|
| |
|
136
|
GRN Ala505
(g.3278C>T)
Not pathogenic
|
EX12
InterDE |
Guerreiro RJ, 2010
|
| |
|
137
|
GRN Val514Met
(g.3303G>A)
Pathogenic nature unclear
|
EX12
InterDE |
Brouwers N, 2008
Nuytemans K, 2008
|
| |
|
138
|
GRN Gly515Ala
(g.3307G>C)
Not pathogenic
|
EX12
InterDE |
Gass J, 2006
van der Zee J, 2007
Brouwers N, 2008
Guerreiro RJ, 2010
|
| |
|
139
|
GRN Asp518
(g.3317C>T)
Not pathogenic
|
EX12
GranE |
Guerreiro RJ, 2010
Del Bo R, 2011
|
| |
|
140
|
GRN Cys521Tyr
(g.3325G>A)
|
EX12
GranE |
Cruchaga C, 2009
|
| |
|
141
|
GRN Arg535X
(g.3366C>T)
Pathogenic nature unclear
|
EX12
GranE |
Brouwers N, 2007
|
| |
|
142
|
GRN Trp541Cys
(g.3386G>C)
Pathogenic nature unclear
|
EX12
GranE |
Bronner IF, 2007
|
| |
|
143
|
GRN Arg547Cys
(g.3402C>T)
Pathogenic nature unclear
|
EX12
GranE |
Wong S, 2008
Wong SH, 2009
|
| |
|
144
|
GRN Val550Ile
(g.3500G>A)
Not pathogenic
|
EX13
GranE |
van der Zee J, 2007
|
| |
|
145
|
GRN Arg556Cys
(g.3518C>T)
Not pathogenic
|
EX13
GranE |
Schymick J, 2007
|
| |
|
146
|
GRN Arg564Cys
(g.3542C>T)
Pathogenic nature unclear
|
EX13
GranE |
Brouwers N, 2008
|
| |
|
147
|
GRN Arg564His
(g.3543G>A)
Not pathogenic
|
EX13
GranE |
Guerreiro RJ, 2010
|
| |
|
148
|
GRN Cys565
(g.3547C>T)
Not pathogenic
|
EX13
GranE |
van der Zee J, 2007
Le Ber I, 2007
Guerreiro RJ, 2010
|
| |
|
149
|
GRN Pro578
(g.3586G>A)
Pathogenic nature unclear
|
EX13
C-Term |
Finch N, 2009
|
| |
