1
|
1 |
1 |
c.1A>G |
M1V |
missense mutation |
Kwan (2007) |
|
|
|
|
|
the full paper was not found |
2
|
1 |
1 |
c.1A>C |
M1L |
missense mutation |
Wang (2016) |
|
|
|
|
|
v3.5.1 |
3
|
2 |
1 |
c.2T>G |
M1R |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
|
4
|
2 |
1 |
c.2T>A |
M1K |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
|
the full paper was not found |
5
|
2 |
1 |
c.2T>C |
M1T |
missense mutation |
Eng (1997) |
Classic |
|
|
|
|
|
6
|
2 |
1 |
c.2T>C |
M1T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
7
|
2 |
1 |
c.2T>C |
M1T |
missense mutation |
Zhang (2007) |
|
|
|
|
|
|
8
|
2 |
1 |
c.2T>C |
M1T |
missense mutation |
Burlina (2008) |
|
|
|
|
|
|
9
|
3 |
1 |
c.3G>A |
M1I |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
|
|
10
|
3 |
1 |
c.3G>A |
M1I |
missense mutation |
Kobayashi (2014) |
Classic |
M |
|
Japanese |
|
|
11
|
3 |
1 |
c.3G>A |
M1I |
missense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
12
|
4 |
1 |
c.4C>T |
Q2X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
13
|
4 |
1 |
c.4C>T |
Q2X |
nonsense mutation |
Pereira (2014) |
|
|
|
|
|
|
14
|
6 |
1 |
c.6delG |
|
deletion |
Altarescu (2001) |
Classic |
|
|
|
|
v3.5.1 |
15
|
7 |
1 |
c.7C>G |
L3V |
missense mutation |
Lukas (2016) |
|
M |
|
|
|
v3.5 |
16
|
8 |
1 |
c.8T>C |
L3P |
missense mutation |
Lukas (2016) |
|
M |
|
|
|
v3.5 |
17
|
9 |
1 |
c.9delG |
|
deletion |
Altarescu (2001) |
Classic |
|
|
|
|
v3.5.1 |
18
|
13 |
1 |
c.13A>G |
N5D |
VUS? |
Duro (2018) |
VUS? |
|
|
|
|
v3.5.1 |
19
|
16 |
1 |
c.16 |
P6X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
20
|
18 |
1 |
c.18delA |
|
deletion |
Shabbeer (2005) |
Classic |
|
|
|
|
|
21
|
19 |
1 |
c.19G>T |
E7X |
nonsense mutation |
Dobrovolny (2008) |
|
|
|
|
|
the full paper was not found |
22
|
19 |
1 |
c.19G>T |
E7X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
23
|
25 |
1 |
c.25delC |
|
deletion |
Nampoothiri(2020) |
Classic |
M |
35 |
Indian |
|
v3.5 |
24
|
26 |
1 |
c.26delA |
|
deletion |
Eng (1994) |
Classic |
|
|
English |
|
|
25
|
32 |
1 |
c.32delG |
|
deletion |
Ashton-Prolla (1999) |
Classic |
|
|
|
|
v3.5.1 |
26
|
33 |
1 |
c.33delC |
|
deletion |
Batista (2011) |
|
|
|
|
|
|
27
|
34 |
1 |
c.34_42del9 |
|
deletion |
Chien (2009) |
|
|
|
|
|
v3.5.1 |
28
|
35 |
1 |
c.35_41del7 |
|
deletion |
Sawada(2020) |
|
F |
26 |
Japanese |
|
v3.5 |
29
|
35 |
1 |
c.35_47del13 |
|
deletion |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
30
|
35 |
1 |
c.35_58del24 |
|
deletion |
Lukas (2013) |
|
|
|
|
|
v3.5.1 |
31
|
36 |
1 |
c.36C>A |
C12X |
nonsense mutation |
Hossain (2017) |
Hetero |
F |
|
Japanese |
|
v3.5 |
32
|
37 |
1 |
c.37G>C |
A13P |
missense mutation |
Benjamin (2017) |
|
|
|
|
|
v3.5.1 |
33
|
37 |
1 |
c.37G>A |
A13T |
missense mutation |
Benjamin (2017) |
|
|
|
|
|
v3.5.1 |
34
|
41 |
1 |
c.41T>C |
L14P |
missense mutation |
Tse (2003) |
Classic |
F/M |
|
Chinese |
|
|
35
|
43 |
1 |
c.43G>C |
A15P |
missense mutation |
Turaca (2012) |
|
|
|
Brazilian |
|
|
36
|
43 |
1 |
c.43G>A |
A15T |
VUS? |
Ebrahim (2012) |
VUS? |
|
|
|
|
|
37
|
44 |
1 |
c.44C>A |
A15E |
missense mutation |
Terryn (2013) |
Classic |
|
|
|
|
A5E in the source paper A15E? /same as above(id=23) |
38
|
44 |
1 |
c.44C>A |
A15E |
missense mutation |
Lukas (2013) |
|
|
|
|
|
|
39
|
44 |
1 |
c.44C>G |
A15G |
missense mutation |
Koskenvuo (2009) |
|
|
|
|
|
|
40
|
47 |
1 |
c.47T>C |
L16P |
missense mutation |
Garzuly (2005) |
Classic |
M |
|
Hungarian |
|
|
41
|
47 |
1 |
c.47T>C |
L16P |
missense mutation |
Erdos (2008) |
|
|
|
|
|
|
42
|
47 |
1 |
c.47T>G |
L16R |
missense mutation |
Sakuraba (2018) |
Classic |
M |
|
Japanese |
|
v3.5 |
43
|
47 |
1 |
c.47T>A |
L16H |
missense mutation |
Kobayashi (2019) |
Classic |
|
|
Japanese |
|
v3.5 |
44
|
53 |
1 |
c.53T>G |
F18C |
missense mutation |
Turaca (2012) |
|
|
|
Brazilian |
|
|
45
|
53 |
1 |
c.53T>C |
F18S |
missense mutation |
Auray-Blais (2008) |
|
|
|
|
|
|
46
|
53 |
1 |
c.53T>C |
F18S |
missense mutation |
Bouwman (2013) |
|
|
|
|
|
|
47
|
53 |
1 |
c.53T>C |
F18S |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
|
|
48
|
53 |
1 |
c.53T>A |
F18Y |
missense mutation |
Colon (2017) |
|
|
|
|
|
v3.5 |
49
|
56 |
1 |
c.56T>C |
L19P |
missense mutation |
Teraguchi (2004) |
Hetero |
F |
56 |
Japanese |
|
|
50
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Nakao (1995) |
Atypical Variant |
|
|
Japanese |
|
|
51
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Andreotti (2011) |
|
|
|
|
|
|
52
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
|
|
53
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Takata (1997) |
Variant |
|
|
|
|
|
54
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Kawano (2007) |
Cardiac Variant |
|
60 |
|
|
|
55
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Garman (2002) |
Mild |
|
|
|
|
|
56
|
58 |
1 |
c.58G>C |
A20P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
57
|
59 |
1 |
c.59C>A |
A20D |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
|
v3.5 |
58
|
59 |
1 |
c.59_72dup14 |
|
duplication |
Ferreira Ferrer (2018) |
Classic |
M |
44 |
|
|
v3.5 |
59
|
59 |
1 |
c.59_72del14 |
|
deletion |
Pan (2016) |
Classic |
M |
13 |
|
|
v3.5.1 |
60
|
59 |
1 |
c.59_73del15 |
|
deletion |
Germain (2002) |
Classic |
M |
40 |
Kurdish |
|
|
61
|
59 |
1 |
c.59_84del26 |
|
deletion |
Schiffmann (2015) |
|
|
|
|
|
v3.5.1 |
62
|
61 |
1 |
c.61C>T |
L21F |
missense mutation |
Heo (2009) |
|
|
|
|
|
v3.5.1 |
63
|
62 |
1 |
c.62T>C |
L21P |
missense mutation |
Lukas (2016) |
|
M |
|
|
|
v3.5 |
64
|
62 |
1 |
c.62T>G |
L21R |
missense mutation |
Benjamin (2017) |
|
|
|
|
|
v3.5.1 |
65
|
70 |
1 |
c.70T>A |
W24R |
VUS? |
Al-Thihli (2012) |
VUS? |
F |
10 |
|
|
|
66
|
70 |
1 |
c.70T>A |
W24R |
missense mutation |
Scott (2013) |
|
F |
newborn |
|
|
|
67
|
70 |
1 |
c.70T>G |
W24G |
missense mutation |
Kleinert (2009) |
|
M |
|
|
|
|
68
|
71 |
1 |
c.71G>A |
W24X |
nonsense mutation |
Buda (2011) |
Classic |
M |
|
|
|
|
69
|
71 |
1 |
c.71G>A |
W24X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
70
|
72 |
1 |
c.72G>T |
W24C |
missense mutation |
Lukas (2013) |
|
|
|
|
|
|
71
|
76 |
1 |
c.76_77insT |
|
insertion |
Tang(2020) |
Classic |
M |
16 |
Chinease |
|
v3.5 |
72
|
85 |
1 |
c.85dupG |
|
duplication |
Ashley (2001) |
|
|
|
|
|
|
73
|
85 |
1 |
c.85delG |
|
deletion |
Sakuraba (2018) |
Classic |
M |
11 |
Japanese |
|
v3.5.1 |
74
|
92 |
1 |
c.92C>T |
A31V |
missense mutation |
Eng (1997) |
Classic |
|
|
|
|
|
75
|
92 |
1 |
c.92C>T |
A31V |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
76
|
92 |
1 |
c.92C>T |
A31V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
77
|
95 |
1 |
c.95T>C |
L32P |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.053 |
L31P in the source paper L32P? |
78
|
95 |
1 |
c.95T>C |
L32P |
missense mutation |
Madsen (1995) |
|
|
|
Danish |
0.053 |
|
79
|
95 |
1 |
c.95T>C |
L32P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.053 |
|
80
|
97 |
1 |
c.97G>T |
D33Y |
missense mutation |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
0.059 |
v3.5 |
81
|
97 |
1 |
c.97G>C |
D33H |
missense mutation |
Sawada(2020) |
Classic |
M |
38 |
Japanese |
0.446 |
v3.5 |
82
|
98 |
1 |
c.98A>G |
D33G |
missense mutation |
personal communication |
Classic |
M |
37 |
Italian |
0.139 |
personal communication |
83
|
98 |
1 |
c.98A>G |
D33G |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.139 |
v3.5 |
84
|
100 |
1 |
c.100A>G |
N34D |
missense mutation |
Varela (2020) |
Classic |
M |
23 |
Brazilian |
0.106 |
v3.5 |
85
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Eng (1993) |
Classic |
|
|
Polish |
0.029 |
|
86
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.029 |
|
87
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Wu (2011) |
|
|
|
|
0.029 |
|
88
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.029 |
|
89
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Polish/Danish |
0.029 |
|
90
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Benjamin (2009) |
Classic |
|
|
|
0.029 |
|
91
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.029 |
|
92
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.029 |
|
93
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Madsen (1995) |
|
|
|
Danish |
0.029 |
|
94
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Rosenberg (1999) |
|
|
|
|
0.029 |
|
95
|
101 |
1 |
c.101A>G |
N34S |
missense mutation |
Branton (2002) |
|
|
|
|
0.029 |
|
96
|
102 |
1 |
c.102T>G |
N34K |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.197 |
|
97
|
102 |
1 |
c.102T>G |
N34K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.197 |
|
98
|
103 |
1 |
c.103 |
G35D |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.018 |
G34D in the source paper G35D? |
99
|
103 |
1 |
c.103G>A |
G35R |
missense mutation |
Davies (1994) |
Classic |
|
|
|
0.008 |
|
100
|
103 |
1 |
c.103G>A |
G35R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.008 |
|
101
|
103 |
1 |
c.103G>A |
G35R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.008 |
|
102
|
104 |
1 |
c.104G>A |
G35E |
missense mutation |
Lukas (2016) |
|
|
|
|
0.106 |
v3.5 |
103
|
104 |
1 |
c.104G>T |
G35V |
missense mutation |
Veloso (2018) |
|
M |
|
Brazilan |
0.006 |
v3.5 |
104
|
107 |
1 |
c.107T>C |
L36S |
missense mutation |
Erdos (2008) |
Later-Onset |
M |
52 |
Hungarian |
0.025 |
|
105
|
107 |
1 |
c.107T>C |
L36S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.025 |
|
106
|
107 |
1 |
c.107T>G |
L36W |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.052 |
v3.5 |
107
|
108 |
1 |
c.108G>T |
L36F |
missense mutation |
Pereira (2007) |
|
M |
32 |
Brazilian |
0.023 |
|
108
|
109 |
1 |
c.109G>A |
A37T |
missense mutation |
Sadick (2007) |
|
M |
51 |
|
0.018 |
|
109
|
109 |
1 |
c.109G>A |
A37T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.018 |
|
110
|
109 |
1 |
c.109G>T |
A37S |
missense mutation |
Moiseev (2019) |
|
M |
54 |
Russian |
0.017 |
v3.5 |
111
|
110 |
1 |
c.110C>T |
A37V |
missense mutation |
Nakamura (2010) |
Classic |
M |
49 |
Japanese |
0.045 |
|
112
|
117 |
1 |
c.117G>T |
T39T |
missense mutation |
Guffon (1998) |
Classic |
M |
8 |
French |
|
with P40S |
113
|
118 |
1 |
c.118C>G |
P40A |
missense mutation |
Koskenvuo (2009) |
|
|
|
|
0.005 |
|
114
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Koide (1990) |
Classic |
M |
|
Japanese |
0.032 |
|
115
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.032 |
|
116
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Wu (2011) |
|
|
|
|
0.032 |
|
117
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Guffon (1998) |
Classic |
M |
8 |
French |
0.032 |
with T39T |
118
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Japanese |
0.032 |
|
119
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Takata (1997) |
Classic |
|
|
|
0.032 |
|
120
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Glass (2004) |
Classic |
M |
20 |
|
0.032 |
|
121
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.032 |
|
122
|
118 |
1 |
c.118C>T |
P40S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.032 |
|
123
|
119 |
1 |
c.119C>A |
P40H |
missense mutation |
Meng (2010) |
Classic |
M |
|
Chinese |
0.223 |
the source paper was not written in English. |
124
|
119 |
1 |
c.119C>T |
P40L |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.111 |
|
125
|
119 |
1 |
c.119C>T |
P40L |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.111 |
|
126
|
119 |
1 |
c.119C>T |
P40L |
missense mutation |
Morrone (2003) |
Classic |
M |
10 |
Italian |
0.111 |
|
127
|
119 |
1 |
c.119C>T |
P40L |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.111 |
|
128
|
122 |
1 |
c.122C>T |
T41I |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.029 |
|
129
|
122 |
1 |
c.122C>T |
T41I |
missense mutation |
Wu (2011) |
|
|
|
|
0.029 |
|
130
|
122 |
1 |
c.122C>T |
T41I |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.029 |
|
131
|
123 |
1 |
c.123delC |
|
deletion |
Burlina (2008) |
Hetero |
F |
25 |
|
|
|
132
|
123 |
1 |
c.123_126dupCATG |
|
duplication |
Morrone (2003) |
Classic |
M |
23 |
|
|
|
133
|
124 |
1 |
c.124A>C |
M42L |
missense mutation |
Rosenthal (2004) |
Atypical |
M |
65 |
|
0.019 |
|
134
|
124 |
1 |
c.124A>C |
M42L |
missense mutation |
Shabbeer (2005) |
|
M |
|
|
0.019 |
|
135
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Davies (1996) |
Classic |
M |
|
British |
0.028 |
|
136
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.028 |
|
137
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Park (2009) |
Classic |
|
|
|
0.028 |
|
138
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.028 |
|
139
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.028 |
|
140
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Topaloglu (1999) |
Hetero |
|
|
|
0.028 |
|
141
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.028 |
|
142
|
124 |
1 |
c.124A>G |
M42V |
missense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
0.028 |
|
143
|
124 |
1 |
c.124_125delAT |
|
deletion |
Ashley (2001) |
Classic |
M |
|
|
|
|
144
|
125 |
1 |
c.125T>G |
M42R |
missense mutation |
Kwan (2007) |
|
|
|
|
0.087 |
the full paper was not found |
145
|
125 |
1 |
c.125T>C |
M42T |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.023 |
|
146
|
125 |
1 |
c.125T>C |
M42T |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.023 |
|
147
|
125 |
1 |
c.125T>A |
M42K |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.034 |
v3.5.1 |
148
|
125 |
1 |
c.125_137del13 |
|
deletion |
Ishii (1991) |
Classic |
M |
18 |
Japanese |
|
|
149
|
126 |
1 |
c.126G>A |
M42I |
missense mutation |
Pan (2016) |
Classic |
M |
38 |
Chinese |
0.029 |
v3.5 |
150
|
126 |
1 |
c.126G>C |
M42I |
missense mutation |
Kobayashi (2019) |
Hetero |
F |
|
Japanese |
0.029 |
v3.5 |
151
|
127 |
1 |
c.127G>C |
G43R |
missense mutation |
Germain (2002) |
Classic |
M |
22 |
British |
0.178 |
|
152
|
127 |
1 |
c.127G>C |
G43R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.178 |
|
153
|
127 |
1 |
c.127G>C |
G43R |
missense mutation |
Utsumi (2009) |
Classic |
M |
57 |
Japanese |
0.178 |
|
154
|
127 |
1 |
c.127G>C |
G43R |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.178 |
|
155
|
127 |
1 |
c.127G>A |
G43S |
missense mutation |
Kwan (2007) |
|
|
|
|
0.049 |
the full paper was not found |
156
|
127 |
1 |
c.127G>A |
G43S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.049 |
|
157
|
128 |
1 |
c.128G>A |
G43D |
missense mutation |
Iga (2001) |
|
|
|
|
0.114 |
the full paper was not found |
158
|
128 |
1 |
c.128G>A |
G43D |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.114 |
|
159
|
128 |
1 |
c.128G>A |
G43D |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
|
0.114 |
|
160
|
128 |
1 |
c.128G>T |
G43V |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.126 |
|
161
|
128 |
1 |
c.128G>T |
G43V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.126 |
|
162
|
131 |
1 |
c.131G>A |
W44X |
nonsense mutation |
Sakuraba (1990) |
Classic |
|
|
Japanese |
|
|
163
|
131 |
1 |
c.131G>A |
W44X |
nonsense mutation |
Okumiya (1995)_2 |
Classic |
M |
16 |
Japanese |
|
|
164
|
131 |
1 |
c.131G>A |
W44X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
Japanese |
|
|
165
|
131 |
1 |
c.131G>A |
W44X |
nonsense mutation |
Takata (1997) |
Classic |
|
|
|
|
|
166
|
131 |
1 |
c.131G>A |
W44X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
167
|
132 |
1 |
c.132G>T |
W44C |
missense mutation |
Wang (2005) |
Classic |
M |
|
|
0.017 |
the source paper was not written in English. |
168
|
134 |
1 |
c.134T>C |
L45P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.053 |
|
169
|
134 |
1 |
c.134T>G |
L45R |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.045 |
with H46S |
170
|
134 |
1 |
c.134T>G |
L45R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.045 |
there is no mutant in the rererence paper. |
171
|
134 |
1 |
c.134_138delTGCACinsGCTCG |
|
indel |
Eng (1997) |
Classic |
|
|
|
|
|
172
|
136 |
1 |
c.136 |
H46S |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.069 |
with L45R |
173
|
136 |
1 |
c.136 |
H46S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.069 |
there is no mutant in the rererence paper. |
174
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Blaydon (2001) |
Classic |
M |
|
European |
0.088 |
|
175
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Blaydon (2001) |
Classic |
|
|
European |
0.088 |
|
176
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.088 |
|
177
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.088 |
|
178
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.088 |
|
179
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.088 |
|
180
|
136 |
1 |
c.136C>T |
H46Y |
missense mutation |
Wu (2011) |
|
|
|
|
0.088 |
|
181
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.043 |
|
182
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.043 |
|
183
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Wu (2011) |
|
|
|
|
0.043 |
|
184
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.043 |
|
185
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.043 |
|
186
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Koskenvuo (2009) |
|
|
|
|
0.043 |
|
187
|
137 |
1 |
c.137A>G |
H46R |
missense mutation |
Laaksonen (2008) |
Hetero |
F |
63 |
|
0.043 |
|
188
|
137 |
1 |
c.137A>T |
H46L |
missense mutation |
Tsuboi (2012) |
|
M |
5 |
Japanese |
0.057 |
|
189
|
137 |
1 |
c.137A>C |
H46P |
missense mutation |
Hwu (2009) |
|
M |
newborn |
Taiwan |
0.076 |
|
190
|
137 |
1 |
c.137A>C |
H46P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.076 |
|
191
|
139 |
1 |
c.139T>G |
W47G |
missense mutation |
Blaydon (2001) |
Hetero |
F |
|
European |
0.024 |
|
192
|
139 |
1 |
c.139T>G |
W47G |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.024 |
|
193
|
139 |
1 |
c.139T>C |
W47R |
missense mutation |
Ge (2017) |
Classic |
M |
16 |
Chinese |
0.082 |
v3.5 |
194
|
140 |
1 |
c.140G>T |
W47L |
missense mutation |
Cooper (2000) |
|
|
|
|
0.014 |
the full paper was not found |
195
|
141 |
1 |
c.141G>A |
W47X |
nonsense mutation |
Batista (2011) |
|
|
|
|
|
|
196
|
141 |
1 |
c.141G>A |
W47X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
197
|
142 |
1 |
c.142G>A |
E48K |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.127 |
|
198
|
144 |
1 |
c.144G>T |
E48D |
missense mutation |
Kwan (2007) |
|
|
|
|
0.053 |
the full paper was not found |
199
|
145 |
1 |
c.145C>T |
R49C |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.109 |
|
200
|
145 |
1 |
c.145C>T |
R49C |
missense mutation |
Lukas (2013) |
|
|
|
|
0.109 |
|
201
|
145 |
1 |
c.145C>T |
R49C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.109 |
|
202
|
145 |
1 |
c.145C>G |
R49G |
missense mutation |
Germain (2002) |
Classic |
M |
57 |
French |
0.168 |
|
203
|
145 |
1 |
c.145C>G |
R49G |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.168 |
|
204
|
145 |
1 |
c.145C>G |
R49G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.168 |
|
205
|
145 |
1 |
c.145C>A |
R49S |
missense mutation |
Davies (1996) |
|
F |
|
British |
0.251 |
|
206
|
145 |
1 |
c.145C>A |
R49S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.251 |
|
207
|
145 |
1 |
c.145C>A |
R49S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.251 |
|
208
|
146 |
1 |
c.146G>T |
R49L |
missense mutation |
Davies (1994) |
Classic |
|
|
|
0.201 |
|
209
|
146 |
1 |
c.146G>T |
R49L |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.201 |
|
210
|
146 |
1 |
c.146G>T |
R49L |
missense mutation |
Wu (2011) |
|
|
|
|
0.201 |
|
211
|
146 |
1 |
c.146G>T |
R49L |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.201 |
|
212
|
146 |
1 |
c.146G>C |
R49P |
missense mutation |
Blaydon (2001) |
Classic |
|
|
European |
0.125 |
|
213
|
146 |
1 |
c.146G>C |
R49P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.125 |
|
214
|
146 |
1 |
c.146G>C |
R49P |
missense mutation |
Germain (2002) |
Classic |
M |
24 |
British |
0.125 |
|
215
|
146 |
1 |
c.146G>C |
R49P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.125 |
|
216
|
146 |
1 |
c.146G>A |
R49H |
missense mutation |
Kobayashi (2019) |
|
F |
|
Japanese |
0.058 |
v3.5 |
217
|
149 |
1 |
c.149T>G |
F50C |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.014 |
|
218
|
149 |
1 |
c.149T>G |
F50C |
missense mutation |
Wu (2011) |
|
|
|
|
0.014 |
|
219
|
151 |
1 |
c.151_152delATinsG |
|
indel |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
|
v3.5 |
220
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.134 |
|
221
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.134 |
|
222
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Wu (2011) |
|
|
|
|
0.134 |
|
223
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.134 |
|
224
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.134 |
|
225
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Glass (2004) |
Classic |
M |
33 |
|
0.134 |
|
226
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.134 |
|
227
|
152 |
1 |
c.152T>A |
M51K |
missense mutation |
Branton (2002) |
|
|
|
|
0.134 |
|
228
|
153 |
1 |
c.153G>A |
M51I |
missense mutation |
Spada (2006) |
Later-Onset? |
|
newborn |
Italian |
0.007 |
|
229
|
153 |
1 |
c.153G>A |
M51I |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.007 |
|
230
|
153 |
1 |
c.153G>A |
M51I |
missense mutation |
Cammarata (2015) |
Classic/Later-Onset |
M |
"28, 58" |
Italian |
0.007 |
|
231
|
153 |
1 |
c.153G>A |
M51I |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.007 |
|
232
|
153 |
1 |
c.153G>A |
M51I |
missense mutation |
Ferri (2012) |
|
|
|
|
0.007 |
|
233
|
154 |
1 |
c.154T>C |
C52R |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
0.136 |
|
234
|
154 |
1 |
c.154T>C |
C52R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.136 |
|
235
|
154 |
1 |
c.154T>C |
C52R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.136 |
|
236
|
154 |
1 |
c.154T>C |
C52R |
missense mutation |
Germain (1996) |
Later-Onset |
M |
30 |
|
0.136 |
|
237
|
154 |
1 |
c.154T>G |
C52G |
missense mutation |
Cruz (2011) |
Classic |
M |
20 |
|
0.003 |
the source paper was not written in English. |
238
|
154 |
1 |
c.154delT |
|
deletion |
Blaydon (2001) |
Hetero |
F |
|
European |
|
|
239
|
155 |
1 |
c.155G>C |
C52S |
missense mutation |
Eng (1994) |
Classic |
|
|
Polish |
0.022 |
|
240
|
155 |
1 |
c.155G>C |
C52S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.022 |
|
241
|
155 |
1 |
c.155G>C |
C52S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.022 |
|
242
|
155 |
1 |
c.155G>A |
C52Y |
missense mutation |
Filoni (2010) |
Classic |
M |
27 |
Italian |
0.073 |
|
243
|
155 |
1 |
c.155G>A |
C52Y |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.073 |
|
244
|
155 |
1 |
c.155G>A |
C52Y |
missense mutation |
Rigoldi (2014) |
Classic |
M |
43 |
|
0.073 |
|
245
|
155 |
1 |
c.155G>A |
C52Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.073 |
|
246
|
156 |
1 |
c.156C>A |
C52X |
nonsense mutation |
Topaloglu (1999) |
Hetero |
|
|
|
|
|
247
|
156 |
1 |
c.156C>A |
C52X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
248
|
156 |
1 |
c.156C>G |
C52W |
missense mutation |
Lukas (2013) |
|
|
|
|
0.035 |
|
249
|
157 |
1 |
c.157A>G |
N53D |
missense mutation |
Tai (2012) |
|
|
|
|
0.039 |
|
250
|
157 |
1 |
c.157A>G |
N53D |
missense mutation |
Lee (2014) |
|
|
|
Taiwan |
0.039 |
|
251
|
157 |
1 |
c.157A>T |
N53Y |
missense mutation |
Sawada(2020) |
Hetero |
F |
54 |
Japanese |
0.015 |
v3.5 |
252
|
159 |
1 |
c.159C>G |
N53K |
missense mutation |
Ferri (2018) |
Hetero |
F |
70 |
|
0.124 |
v3.5 |
253
|
160 |
1 |
c.160T>C |
L54F |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.008 |
v3.5.1 |
254
|
161 |
1 |
c.161T>C |
L54P |
missense mutation |
Auray-Blais (2008) |
|
|
|
|
0.022 |
|
255
|
162 |
1 |
c.162delT |
|
deletion |
Schafer (2005) |
|
|
|
|
|
|
256
|
164 |
1 |
c.164_170delACTGCCAinsTCTGCCT |
|
indel |
Benjamin (2009) |
|
|
|
|
|
|
257
|
164 |
1 |
c.164A>G |
D55G |
VUS? |
Frabasil (2019) |
VUS? |
M |
42 |
Argentinean |
0.100 |
v3.5 |
258
|
166 |
1 |
c.166T>G |
C56G |
missense mutation |
Eng (1993) |
Classic |
|
|
English |
0.131 |
|
259
|
166 |
1 |
c.166T>G |
C56G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.131 |
|
260
|
166 |
1 |
c.166T>G |
C56G |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
|
0.131 |
|
261
|
166 |
1 |
c.166T>G |
C56G |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.131 |
|
262
|
166 |
1 |
c.166T>G |
C56G |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.131 |
|
263
|
166 |
1 |
c.166 |
C56S |
missense mutation |
personal communication |
Classic |
M |
24 |
Spanish-Aborigin |
0.018 |
personal communication |
264
|
166 |
1 |
c.166T>C |
C56R |
missense mutation |
Verma (2016) |
|
F |
|
|
0.128 |
v3.5 |
265
|
166 |
1 |
c.166T>A |
C56S |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.018 |
v3.5 |
266
|
167 |
1 |
c.167G>T |
C56F |
missense mutation |
Eng (1994) |
Classic |
|
|
German |
0.128 |
|
267
|
167 |
1 |
c.167G>T |
C56F |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.128 |
|
268
|
167 |
1 |
c.167G>T |
C56F |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.128 |
|
269
|
167 |
1 |
c.167G>A |
C56Y |
missense mutation |
Davies (1996) |
Classic |
M |
|
British |
0.132 |
|
270
|
167 |
1 |
c.167G>A |
C56Y |
missense mutation |
Lukas (2013) |
|
|
|
|
0.132 |
|
271
|
167 |
1 |
c.167G>A |
C56Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.132 |
|
272
|
167 |
1 |
c.167G>A |
C56Y |
missense mutation |
Rigoldi (2014) |
Classic |
M |
|
Spanish |
0.132 |
|
273
|
167 |
1 |
c.167_172delGCCAGG |
|
deletion |
Sakuraba (2018) |
Classic |
M |
44 |
Japanese |
|
v3.5.1 |
274
|
168 |
1 |
c.168C>A |
C56X |
nonsense mutation |
Shabbeer (2005) |
|
F |
|
|
|
|
275
|
168 |
1 |
c.168C>A |
C56X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
276
|
170 |
1 |
c.170A>C |
Q57P |
missense variant |
Baik-kyun Kim (2020) |
|
F |
39 |
Korean |
0.034 |
Young Stroke and Proteinuria |
277
|
170 |
1 |
c.170A>G |
Q57R |
missense mutation |
Favalli (2016) |
|
|
|
|
0.015 |
v3.5 |
278
|
170 |
1 |
c.170A>T |
Q57L |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.003 |
v3.5.1 |
279
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Eng (1994) |
Classic |
|
|
Italian |
0.219 |
|
280
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Ishii (2007) |
Classic |
|
|
|
0.219 |
|
281
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.219 |
|
282
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.219 |
|
283
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Mignani (2008) |
|
M |
49 |
|
0.219 |
|
284
|
175 |
1 |
c.175G>A |
E59K |
missense mutation |
Wu (2011) |
|
|
|
|
0.219 |
|
285
|
176 |
1 |
c.176delA |
|
deletion |
|
Classic |
M |
|
Japanese |
|
v3.5.1 |
286
|
178 |
1 |
c.178C>T |
P60S |
VUS? |
Liao (2018) |
VUS? |
M |
newborn |
Taiwanese |
0.029 |
v3.5.1 |
287
|
179 |
1 |
c.179C>T |
P60L |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.030 |
|
288
|
179 |
1 |
c.179C>T |
P60L |
VUS? |
Smid (2015) |
VUS? |
M/F |
|
|
0.030 |
|
289
|
181 |
1 |
c.181_182dupGA |
|
duplication |
Lee (2010) |
Classic |
|
|
Korean |
|
|
290
|
184 |
1 |
c.184delT |
|
deletion |
Burlina (2008) |
Hetero |
F |
54 |
|
|
|
291
|
184 |
1 |
c.184dupT |
|
duplication |
Sawada(2020) |
Classic |
M |
17 |
Japanese |
|
v3.5 |
292
|
187 |
1 |
c.187T>C |
C63R |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.197 |
v3.5 |
293
|
187 |
1 |
c.187T>G |
C63G |
missense mutation |
Favalli (2016) |
|
|
|
|
0.100 |
v3.5 |
294
|
187 |
1 |
c.187T>A |
C63S |
missense mutation |
Brito (2014) |
|
F |
|
|
0.131 |
v3.5 |
295
|
188 |
1 |
c.188G>A |
C63Y |
missense mutation |
Schafer (2005) |
|
|
|
|
0.079 |
|
296
|
188 |
1 |
c.188G>A |
C63Y |
missense mutation |
Lukas (2013) |
|
|
|
|
0.079 |
|
297
|
190 |
1 |
c.190A>T |
I64F |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.118 |
v3.5 |
298
|
194 |
1 |
c.194G>T |
S65I |
missense mutation |
Lukas (2013) |
|
|
|
|
0.074 |
|
299
|
194 |
1 |
c.194G>C |
S65T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.148 |
|
300
|
194 |
1 |
c.194G>C |
S65T |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.148 |
|
301
|
194 |
1 |
c.194G>C |
S65T |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.148 |
|
302
|
194 |
1 |
c.194G>C |
S65T |
missense mutation |
Chen (1998) |
|
|
|
|
0.148 |
|
303
|
194 |
IVS1 |
c.194+1G>A |
|
splicing defect |
Echevarria (2016) |
Hetero |
F |
56 |
|
|
v3.5.1 |
304
|
194 |
IVS1 |
c.194+2T>C |
|
splicing defect |
Dobrovolny (2005) |
Classic |
M |
44 |
|
|
|
305
|
194 |
IVS1 |
c.194+1222_998dup8112 |
|
insertion |
Kornreich (1990) |
|
|
|
|
|
v3.5.1 |
306
|
194 |
IVS1 |
c.194+1562_369+1109del3443 |
|
deletion |
Yoshimitsu (2011) |
Hetero |
F |
|
|
|
v3.5.1 |
307
|
194 |
IVS1 |
c.194+1627_370-825del3445 |
|
deletion |
Ro (2007) |
Classic |
|
|
|
|
v3.5.1 |
308
|
194 |
IVS1 |
c.194+2049_369+773del2619insCG |
|
indel |
Dobrovolny (2011) |
Hetero |
F |
|
|
|
v3.5.1 |
309
|
195 |
IVS1 |
c.195-1834_370-859del3151 |
|
deletion |
Shabbeer (2006) |
Classic |
|
|
|
|
v3.5.1 |
310
|
195 |
IVS1 |
c.195-1589_369+753del2617 |
|
deletion |
Dobrovolny (2005) |
Classic |
|
|
|
|
v3.5.1 |
311
|
195 |
IVS1 |
c.195-471_691del5562 |
|
deletion |
Higuchi T (2016) |
Hetero |
F |
|
|
|
v3.5.1 |
312
|
195 |
IVS1 |
c.195-91_369+287del553 |
|
deletion |
Lukas (2012) |
|
|
|
|
|
v3.5.1 |
313
|
195 |
IVS1 |
c.195-91_369+287del553 |
|
deletion |
Lukas (2012) |
|
|
|
|
|
v3.5.1 |
314
|
195 |
IVS1 |
c.195-471_c.691del5.5k |
|
deletion |
Higuchi T (2016) |
|
|
|
|
|
v3.5.1 |
315
|
195 |
IVS1 |
c.195-1G>A |
|
splicing defect |
Meng (2010) |
Classic |
M |
|
Chinese |
|
|
316
|
195 |
IVS1 |
c.195-1G>T |
|
splicing defect |
Okumiya (1996) |
Classic |
M |
25 |
Japanese |
|
|
317
|
196 |
2 |
c.196G>C + c.334C>T |
E66Q + R112C |
missense mutation |
Ishii (1992) |
Classic |
M |
14 |
Japanese? |
0.048 |
with R112C /(E66Q is a functional variant (polymorphism) by Prof.Sakuraba) |
318
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.048 |
|
319
|
196 |
2 |
c.196G>C |
E66Q |
funct. variant? |
Doi (2012) |
non-Pathogenic? |
|
|
Japanese |
0.048 |
|
320
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation? |
Hwu (2009) |
Later-Onset? |
|
|
Taiwan |
0.048 |
|
321
|
196 |
2 |
c.196G>C |
E66Q |
polymorphism? |
Saito (2013) |
non-Pathogenic? |
|
|
|
0.048 |
|
322
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Park (2009) |
Classic |
|
|
|
0.048 |
|
323
|
196 |
2 |
c.196G>C |
E66Q |
polymorphism? |
Lee (2010) |
non-Pathogenic? |
|
|
Korean |
0.048 |
|
324
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation? |
Nakamura (2010) |
Cerebrovascular Variant |
|
|
Japanese |
0.048 |
|
325
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Japanese |
0.048 |
|
326
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Takata (1997) |
|
|
|
|
0.048 |
|
327
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.048 |
|
328
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Nishino (2012) |
|
|
|
|
0.048 |
|
329
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
0.048 |
|
330
|
196 |
2 |
c.196G>C |
E66Q |
missense mutation |
Wu (2011) |
|
|
|
|
0.048 |
|
331
|
196 |
2 |
c.196G>C |
E66Q |
funct. variant? |
Togawa (2012) |
non-Pathogenic? |
|
|
Japanese/Korean |
0.048 |
|
332
|
196 |
2 |
c.196G>C |
E66Q |
funct. variant? |
Kobayashi (2012) |
non-Pathogenic? |
|
|
|
0.048 |
|
333
|
196 |
2 |
c.196G>A |
E66K |
missense mutation |
Schafer (2005) |
|
|
|
|
0.360 |
|
334
|
196 |
2 |
c.196G>A |
E66K |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.360 |
|
335
|
196 |
2 |
c.196G>A |
E66K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.360 |
|
336
|
197 |
2 |
c.197A>G |
E66G |
missense mutation |
Spada (2006) |
Later-Onset? |
|
newborn |
Italian |
0.062 |
|
337
|
197 |
2 |
c.197A>G |
E66G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.062 |
|
338
|
202 |
2 |
c.202C>T |
L68F |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.049 |
|
339
|
202 |
2 |
c.202C>T |
L68F |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.049 |
|
340
|
205 |
2 |
c.205T>C |
F69L |
missense mutation |
Sawada(2020) |
Classic |
M |
47 |
Japanese |
0.021 |
v3.5 |
341
|
206 |
2 |
c.206T>C |
F69S |
missense mutation |
Onay(2020) |
Hetero |
F |
|
Turkish |
0.035 |
v3.5 |
342
|
207 |
2 |
c.207C>A |
F69L |
missense mutation |
Umeda (2015) |
Later-Onset |
M |
57 |
Japanese |
0.021 |
v3.5 |
343
|
207 |
2 |
c.207delC |
|
deletion |
Sawada(2020) |
Classic |
M |
40 |
Japanese |
|
v3.5 |
344
|
207 |
2 |
c.207_369+651del814ins231 |
|
indel |
Dobrovolny (2011) |
Hetero |
F |
|
|
|
v3.5.1 |
345
|
212 |
2 |
c.212A>G |
E71G |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.041 |
v3.5 |
346
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Okumiya (1998) |
Atypical |
M |
|
Japanese |
0.026 |
|
347
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.026 |
|
348
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.026 |
|
349
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.026 |
|
350
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Takata (1997) |
Asymptomatic |
|
|
|
0.026 |
|
351
|
214 |
2 |
c.214A>G |
M72V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.026 |
|
352
|
215 |
2 |
c.215T>G |
M72R |
missense mutation |
Slee (2000) |
Classic |
M |
19 |
|
0.119 |
the source paper was not written in English. |
353
|
215 |
2 |
c.215T>G |
M72R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.119 |
|
354
|
215 |
2 |
c.215T>G |
M72R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.119 |
|
355
|
216 |
2 |
c.216G>A |
M72I |
missense mutation |
Germain (2002) |
Classic |
M |
61 |
French |
0.054 |
|
356
|
216 |
2 |
c.216G>A |
M72I |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.054 |
|
357
|
217 |
2 |
c.217_228del12ins8 |
|
indel |
Eng (1997) |
Classic |
|
|
|
|
|
358
|
218 |
2 |
c.218C>A |
A73E |
missense mutation |
Nishino (2012) |
Hetero |
F |
58 |
Japanese |
0.068 |
|
359
|
218 |
2 |
c.218C>T |
A73V |
missense mutation |
Spada (2006) |
Later-Onset? |
|
newborn |
Italian |
0.037 |
|
360
|
218 |
2 |
c.218C>T |
A73V |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.037 |
|
361
|
227 |
2 |
c.227T>C |
M76T |
missense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
0.008 |
|
362
|
233 |
2 |
c.233C>G |
S78X |
nonsense mutation |
Guffon (1998) |
Classic |
M |
10 |
French |
|
|
363
|
233 |
2 |
c.233C>G |
S78X |
nonsense mutation |
Guffon (2003) |
Hetero |
|
|
|
|
|
364
|
233 |
2 |
c.233C>G |
S78X |
nonsense mutation |
Morrone (2003) |
Classic |
|
25 |
Italian |
|
|
365
|
233 |
2 |
c.233C>G |
S78X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
366
|
233 |
2 |
c.233C>G |
S78X |
nonsense mutation |
Mignani (2008) |
|
M |
21 |
|
|
|
367
|
235 |
2 |
c.235G>T |
E79X |
nonsense mutation |
Takata (1997) |
Classic |
M |
49 |
Japanese |
|
|
368
|
235 |
2 |
c.235G>T |
E79X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
369
|
235 |
2 |
c.235G>T |
E79X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
370
|
235 |
2 |
c.235G>T |
E79X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
371
|
235 |
2 |
c.235G>T |
E79X |
nonsense mutation |
Shabbeer (2005) |
|
F |
|
|
|
|
372
|
239 |
2 |
c.239G>A |
G80D |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.092 |
v3.5 |
373
|
241 |
2 |
c.241T>C |
W81R |
missense mutation |
Burlina (2008) |
|
M |
42 |
|
0.133 |
|
374
|
242 |
2 |
c.242G>C |
W81S |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.049 |
|
375
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Eng (1994) |
Classic |
|
|
Irish |
|
|
376
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
377
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Guffon (1998) |
|
M |
14 |
French |
|
|
378
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
|
379
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
380
|
242 |
2 |
c.242G>A |
W81X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
381
|
243 |
2 |
c.243G>C |
W81C |
missense mutation |
Kwan (2007) |
|
|
|
|
0.051 |
the full paper was not found |
382
|
244 |
2 |
c.244A>T |
K82X |
nonsense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
|
the full paper was not found |
383
|
244 |
2 |
c.244A>T |
K82X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
384
|
244 |
2 |
c.244A>T |
K82X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
385
|
247 |
2 |
c.247G>A |
D83N |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.049 |
|
386
|
247 |
2 |
c.247G>A |
D83N |
missense mutation |
Herrera (2014) |
|
F |
|
|
0.049 |
|
387
|
247 |
2 |
c.247G>A |
D83N |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.049 |
|
388
|
253 |
2 |
c.253G>A |
G85S |
missense mutation |
Sirrs (2010) |
|
|
|
|
0.022 |
|
389
|
254 |
2 |
c.253GG>AA |
G85N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.024 |
|
390
|
254 |
2 |
c.253GG>AA |
G85N |
missense mutation |
Madsen (1995) |
|
|
|
Danish |
0.024 |
|
391
|
256 |
2 |
c.256T>G |
Y86D |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
0.051 |
the full paper was not found |
392
|
256 |
2 |
c.256T>G |
Y86D |
missense mutation |
Lukas (2013) |
|
|
|
|
0.051 |
|
393
|
256 |
2 |
c.256delT |
|
deletion |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
394
|
256 |
2 |
c.256T>C |
Y86H |
missense mutation |
Choi (2017) |
Classic |
|
|
Korean |
0.068 |
v3.5 |
395
|
257 |
2 |
c.257A>G |
Y86C |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.031 |
|
396
|
257 |
2 |
c.257A>G |
Y86C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.031 |
|
397
|
258 |
2 |
c.258T>G |
Y86X |
nonsense mutation |
Lee (2000) |
Classic |
M |
15- |
Korean |
|
|
398
|
258 |
2 |
c.258T>G |
Y86X |
nonsense mutation |
Park (2009) |
Classic |
|
|
|
|
|
399
|
258 |
2 |
c.258T>G |
Y86X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
400
|
258 |
2 |
c.258T>G |
Y86X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
401
|
258 |
2 |
c.258T>G |
Y86X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
402
|
260 |
2 |
c.260delA |
|
deletion |
Ramos-Kuri (2014) |
|
|
|
|
|
|
403
|
261 |
2 |
c.261_278del18 |
|
deletion |
Davies (1996) |
Classic |
M |
|
|
|
|
404
|
262 |
2 |
c.262T>G |
Y88D |
missense mutation |
Cooper (2000) |
|
|
|
|
0.101 |
the full paper was not found |
405
|
263 |
2 |
c.263A>G |
Y88C |
missense mutation? |
Chung J (2016) |
Later-Onset? |
|
|
Korean |
0.054 |
|
406
|
263 |
2 |
c.263A>G |
Y88C |
missense mutation |
Pan (2016) |
Later-Onset |
M |
33 |
Chinese |
0.054 |
v3.5 |
407
|
264 |
2 |
c.264C>G |
Y88X |
nonsense mutation |
Sawada(2020) |
Classic |
M |
36 |
Japanese |
|
v3.5 |
408
|
265 |
2 |
c.265C>T |
L89F |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.070 |
v3.5.1 |
409
|
265 |
2 |
c.265 |
L89K |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.142 |
|
410
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Eng (1994) |
Classic |
|
|
Norwegian |
0.164 |
|
411
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.164 |
|
412
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.164 |
|
413
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.164 |
|
414
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Wu (2011) |
|
|
|
|
0.164 |
|
415
|
266 |
2 |
c.266T>G |
L89R |
missense mutation |
Branton (2002) |
|
|
|
|
0.164 |
|
416
|
266 |
2 |
c.266T>A |
L89H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.052 |
|
417
|
266 |
2 |
c.266T>C |
L89P |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.023 |
|
418
|
266 |
2 |
c.266T>C |
L89P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.023 |
|
419
|
266 |
2 |
c.266T>C |
L89P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.023 |
|
420
|
267 |
2 |
c.267_268dupCT |
|
duplication |
Kwan (2007) |
|
|
|
|
|
|
421
|
268 |
2 |
c.268T>C |
C90R |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.179 |
v3.5.1 |
422
|
269 |
2 |
c.269G>A |
C90Y |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.136 |
v3.5.1 |
423
|
270 |
2 |
c.270C>A |
C90X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
424
|
270 |
2 |
c.270C>G |
C90W |
missense mutation |
ÄŒerkauskaitÄ— (2019) |
Classic |
M |
25 |
Lithuanian |
0.279 |
v3.5 |
425
|
270 |
2 |
c.270delC |
|
deletion |
Schafer (2005) |
|
|
|
|
|
|
426
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Eng (1997) |
Variant |
|
56 |
|
0.012 |
|
427
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.012 |
|
428
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.012 |
|
429
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Park (2009) |
Atypical |
|
|
Korean |
0.012 |
|
430
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Lee (2010) |
Variant |
|
|
Korean |
0.012 |
|
431
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Glass (2004) |
Variant |
M |
|
|
0.012 |
|
432
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.012 |
|
433
|
272 |
2 |
c.272T>C |
I91T |
missense mutation |
Wu (2011) |
|
|
|
|
0.012 |
|
434
|
272 |
2 |
c.272T>A |
I91N |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.008 |
v3.5 |
435
|
273 |
2 |
c.273_276dupTGAT |
|
duplication |
Lukas (2013) |
|
|
|
|
|
|
436
|
274 |
2 |
c.274G>A |
D92N |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.032 |
|
437
|
274 |
2 |
c.274G>A |
D92N |
missense mutation |
Wu (2011) |
|
|
|
|
0.032 |
|
438
|
274 |
2 |
c.274G>A |
D92N |
missense mutation |
Germain (2002) |
Classic |
M |
30 |
British |
0.032 |
|
439
|
274 |
2 |
c.274G>A |
D92N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.032 |
|
440
|
274 |
2 |
c.274G>C |
D92H |
missense mutation |
Davies (1996) |
Classic |
M |
|
British |
0.140 |
|
441
|
274 |
2 |
c.274G>C |
D92H |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.140 |
|
442
|
274 |
2 |
c.274G>C |
D92H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.140 |
|
443
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.182 |
|
444
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.182 |
|
445
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Wu (2011) |
|
|
|
|
0.182 |
|
446
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.182 |
|
447
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.182 |
|
448
|
274 |
2 |
c.274G>T |
D92Y |
missense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
0.182 |
|
449
|
275 |
2 |
c.275A>G |
D92G |
missense mutation |
Huerva (2008) |
Classic |
M |
44 |
|
0.085 |
|
450
|
275 |
2 |
c.275A>T |
D92V |
missense mutation |
Meng (2010) |
Classic |
M |
|
|
0.107 |
the source paper was not written in English. |
451
|
277 |
2 |
c.277G>A |
D93N |
missense mutation |
Shabbeer (2005) |
|
F |
|
|
0.073 |
|
452
|
277 |
2 |
c.277G>A |
D93N |
missense mutation |
Hwu (2009) |
Classic |
M |
|
Taiwanese |
0.073 |
|
453
|
277 |
2 |
c.277G>A |
D93N |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.073 |
|
454
|
277 |
2 |
c.277G>A |
D93N |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
Czech and Slovak |
0.073 |
|
455
|
277 |
2 |
c.277G>T |
D93Y |
missense mutation |
Ebrahim (2012) |
|
|
|
|
0.248 |
|
456
|
277 |
2 |
c.277G>T |
D93Y |
missense mutation |
Lukas (2013) |
|
|
|
|
0.248 |
|
457
|
277 |
2 |
c.277 |
D93X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
458
|
278 |
2 |
c.278A>G |
D93G |
missense mutation |
Davies (1996) |
Classic |
M |
|
Irish |
0.133 |
|
459
|
278 |
2 |
c.278A>G |
D93G |
missense mutation |
Ebrahim (2012) |
|
|
|
|
0.133 |
|
460
|
278 |
2 |
c.278A>G |
D93G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.133 |
|
461
|
278 |
2 |
c.278A>G |
D93G |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.133 |
|
462
|
278 |
2 |
c.278A>T |
D93V |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.128 |
|
463
|
278 |
2 |
c.278A>T |
D93V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.128 |
|
464
|
278 |
2 |
c.278A>T |
D93V |
missense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
0.128 |
|
465
|
279 |
2 |
c.279C>G |
D93E |
missense mutation |
Burlina (2008) |
|
M |
31 |
|
0.060 |
|
466
|
279 |
2 |
c.279C>G |
D93E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.060 |
|
467
|
280 |
2 |
c.280T>C |
C94R |
missense mutation |
Li(2019) |
|
F |
38 |
Chinease |
0.094 |
v3.5 |
468
|
280 |
2 |
c.280T>A |
C94S |
missense mutation |
Koulousios (2017) |
|
F |
48 |
Greek |
0.031 |
v3.5 |
469
|
281 |
2 |
c.281G>C |
C94S |
missense mutation |
Blaydon (2001) |
Classic |
M |
|
European |
0.031 |
|
470
|
281 |
2 |
c.281G>C |
C94S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.031 |
|
471
|
281 |
2 |
c.281G>C |
C94S |
missense mutation |
Wu (2011) |
|
|
|
|
0.031 |
|
472
|
281 |
2 |
c.281G>C |
C94S |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.031 |
|
473
|
281 |
2 |
c.281G>C |
C94S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.031 |
|
474
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.142 |
|
475
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.142 |
|
476
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Germain (2002) |
Classic |
M |
13 |
Hispanic |
0.142 |
|
477
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
|
0.142 |
|
478
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Rozenfeld (2006) |
Classic |
M |
|
|
0.142 |
|
479
|
281 |
2 |
c.281G>A |
C94Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.142 |
|
480
|
281 |
2 |
c.281_286delGTTGGAinsT |
|
indel |
Kwan (2007) |
|
|
|
|
|
|
481
|
281 |
2 |
c.281G>T |
C94F |
missense mutation |
Gaballa(2020) |
Classic |
M |
25 |
Caucasian |
0.128 |
v3.5 |
482
|
283 |
2 |
c.283T>G |
W95G |
missense mutation |
Barbey (2015) |
|
F |
75 |
|
0.025 |
v3.5 |
483
|
283 |
2 |
c.283T>C |
W95R |
missense mutation |
Nampoothiri(2020) |
Classic |
M |
28 |
Indian |
0.085 |
v3.5 |
484
|
284 |
2 |
c.284G>T |
W95L |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
0.017 |
the full paper was not found |
485
|
284 |
2 |
c.284G>T |
W95L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.017 |
|
486
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.021 |
|
487
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Wu (2011) |
|
|
|
|
0.021 |
|
488
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.021 |
|
489
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.021 |
|
490
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Blaydon (2001) |
|
|
|
|
0.021 |
|
491
|
284 |
2 |
c.284G>C |
W95S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.021 |
|
492
|
284 |
2 |
c.284G>A |
W95X |
nonsense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
|
|
493
|
284 |
2 |
c.284G>A |
W95X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
494
|
285 |
2 |
c.285G>T |
W95C |
missense mutation |
Lukas (2013) |
|
|
|
|
0.028 |
|
495
|
288 |
2 |
c.288G>A |
M96I |
missense mutation |
Sakuraba (2018) |
Later-Onset |
M |
28 |
Japanese |
0.015 |
v3.5 |
496
|
289 |
2 |
c.289G>C |
A97P |
missense mutation |
Kimura (2002) |
Classic |
M |
34 |
Japanese |
0.054 |
|
497
|
289 |
2 |
c.289G>C |
A97P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.054 |
|
498
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Eng (1997) |
Mild |
|
|
|
0.025 |
|
499
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Ishii (2007) |
Mild Classic |
|
|
|
0.025 |
|
500
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.025 |
|
501
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Shin (2007) |
|
|
|
|
0.025 |
|
502
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.025 |
|
503
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.025 |
|
504
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.025 |
|
505
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Glass (2004) |
Variant |
M |
|
|
0.025 |
|
506
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.025 |
|
507
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Wu (2011) |
|
|
|
|
0.025 |
|
508
|
290 |
2 |
c.290C>T |
A97V |
missense mutation |
Branton (2002) |
|
M |
|
|
0.025 |
|
509
|
295 |
2 |
c.295C>T |
Q99X |
nonsense mutation |
Eng (1994) |
Classic |
|
|
French |
|
|
510
|
295 |
2 |
c.295C>T |
Q99X |
nonsense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
511
|
295 |
2 |
c.295C>T |
Q99X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
512
|
297 |
2 |
c.297_298delAA |
|
deletion |
Lee (2000) |
Classic |
M |
13 |
Korean |
|
|
513
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Eng (1994) |
Classic |
|
|
Italian |
0.043 |
|
514
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.043 |
|
515
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Wu (2011) |
|
|
|
|
0.043 |
|
516
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.043 |
|
517
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.043 |
|
518
|
299 |
2 |
c.299G>A |
R100K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.043 |
|
519
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.137 |
|
520
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.137 |
|
521
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.137 |
|
522
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.137 |
|
523
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.137 |
|
524
|
299 |
2 |
c.299G>C |
R100T |
missense mutation |
Wu (2011) |
|
|
|
|
0.137 |
|
525
|
301 |
2 |
c.301G>A |
D101N |
VUS? |
Lin (2017) |
VUS? |
|
|
|
0.045 |
v3.5 |
526
|
305 |
2 |
c.305C>T |
S102L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
527
|
305 |
2 |
c.305C>T |
S102L |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.003 |
|
528
|
305 |
2 |
c.305C>G |
S102X |
nonsense mutation |
Shimotori (2008) |
Classic |
F |
11 |
Japanese |
|
|
529
|
305 |
2 |
c.305delC |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
|
530
|
307 |
2 |
c.307G>C |
E103Q |
missense mutation |
Schafer (2005) |
|
|
|
|
0.009 |
|
531
|
307 |
2 |
c.307G>T |
E103X |
nonsense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
|
the full paper was not found |
532
|
307 |
2 |
c.307G>T |
E103X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
533
|
307 |
2 |
c.307G>T |
E103X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
534
|
311 |
2 |
c.311G>T |
G104V |
missense mutation |
Lin (2010) |
|
|
|
|
0.100 |
|
535
|
311 |
2 |
c.311G>T |
G104V |
missense mutation |
Liao (2015) |
suggest Fabry disease |
|
newborn |
Taiwanese |
0.100 |
|
536
|
311 |
2 |
c.311G>T |
G104V |
missense mutation |
Lin (2009) |
Unknown |
M |
newborn |
Taiwanese |
0.100 |
|
537
|
311 |
2 |
c.311G>T |
G104V |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.100 |
|
538
|
311 |
2 |
c.311G>T |
G104V |
missense mutation |
Liao (2014) |
Classic |
|
newborn |
Taiwanese |
0.100 |
|
539
|
316 |
2 |
c.316C>T |
L106F |
VUS? |
van der Tol (2015) |
VUS? |
M |
69 |
|
0.029 |
v3.5 |
540
|
317 |
2 |
c.317T>G |
L106R |
missense mutation |
Wattanasirichaigoon (2006) |
Classic |
M |
|
|
0.112 |
|
541
|
317 |
2 |
c.317_327del11 |
|
deletion |
Okumiya (1996) |
Classic |
M |
47 |
Japanese |
|
|
542
|
319 |
2 |
c.319C>T |
Q107X |
nonsense mutation |
Davies (1996) |
Classic |
M |
|
British |
|
|
543
|
319 |
2 |
c.319C>T |
Q107X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
544
|
319 |
2 |
c.319C>T |
Q107X |
nonsense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
|
|
545
|
319 |
2 |
c.319C>T |
Q107X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
546
|
319 |
2 |
c.319C>T |
Q107X |
nonsense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
|
|
547
|
322 |
2 |
c.322G>A |
A108T |
missense mutation |
Tai (2012) |
|
|
|
|
0.047 |
|
548
|
322 |
2 |
c.322G>A |
A108T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.047 |
|
549
|
322 |
2 |
c.322G>A |
A108T |
VUS? |
Liao (2018) |
VUS? |
M/F |
newborn |
Taiwanese |
0.047 |
v3.5.1 |
550
|
323 |
2 |
c.323_324insCAGA |
|
insertion |
Shimotori (2008) |
Classic |
M |
9 |
Japanese |
|
|
551
|
326 |
2 |
c.326A>G |
D109G |
missense mutation |
Herrera (2014) |
|
M |
80 |
|
0.093 |
|
552
|
329 |
2 |
c.329delC |
|
deletion |
Sawada(2020) |
Classic |
F |
18 |
Japanese |
|
v3.5 |
553
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.037 |
|
554
|
334 |
2 |
c.334C>T + c.196G>C |
R112C + E66Q |
missense mutation |
Ishii (1992) |
Classic |
M |
14 |
Japanese? |
0.037 |
with E66Q |
555
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.037 |
|
556
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Park (2009) |
Classic |
|
|
Korean |
0.037 |
|
557
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.037 |
|
558
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Ashton-Prolla (2000) |
Hetero |
|
|
|
0.037 |
|
559
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.037 |
|
560
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Germain (2002) |
Classic |
M |
33 |
French |
0.037 |
|
561
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Germain (2002) |
Classic |
M |
47 |
French |
0.037 |
|
562
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.037 |
R112C1 in the source paper |
563
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Shin (2007) |
|
|
|
|
0.037 |
|
564
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.037 |
|
565
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.037 |
|
566
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.037 |
|
567
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Japanese |
0.037 |
|
568
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Yasuda (2003) |
Classic |
M |
|
|
0.037 |
with D313Y |
569
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Utsumi (2009) |
Classic |
M |
24 |
Japanese |
0.037 |
|
570
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
0.037 |
|
571
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Blaydon (2001) |
Classic |
|
|
|
0.037 |
|
572
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.037 |
|
573
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Mignani (2008) |
|
|
|
|
0.037 |
|
574
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Wang (2013) |
|
|
|
|
0.037 |
|
575
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Wu (2011) |
|
|
|
|
0.037 |
|
576
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Burlina (2008) |
|
M |
30 |
|
0.037 |
|
577
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Erdos (2008) |
|
|
|
|
0.037 |
|
578
|
334 |
2 |
c.334C>A |
R112S |
missense mutation |
Shabbeer (2005) |
Classic |
M |
|
|
0.034 |
|
579
|
334 |
2 |
c.334C>A |
R112S |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.034 |
|
580
|
334 |
2 |
c.334C>A |
R112S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.034 |
|
581
|
334 |
2 |
c.334C>T |
R112C |
missense mutation |
Wang (2013) |
|
|
|
|
0.037 |
|
582
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Eng (1994) |
Mild |
|
|
Persian |
0.082 |
|
583
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.082 |
|
584
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.082 |
|
585
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.082 |
|
586
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.082 |
|
587
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Lin (2009) |
Renal/cardiac Variant |
M |
|
|
0.082 |
|
588
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Shin (2007) |
|
|
|
|
0.082 |
|
589
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.082 |
|
590
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Mechtler (2012) |
Mild |
M |
|
|
0.082 |
|
591
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.082 |
|
592
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.082 |
|
593
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Kotanko (2004) |
|
|
|
|
0.082 |
|
594
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Lee (2014) |
non-Classic |
|
|
Taiwanese |
0.082 |
|
595
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Lorenz (2003) |
|
|
|
Austria |
0.082 |
|
596
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Shimotori (2008) |
Later-Onset |
M |
50 |
Japanese |
0.082 |
|
597
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Wu (2011) |
|
|
|
|
0.082 |
|
598
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Branton (2002) |
|
|
|
|
0.082 |
|
599
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.082 |
|
600
|
335 |
2 |
c.335G>A |
R112H |
missense mutation |
Kleinert (2009) |
|
M |
|
|
0.082 |
R112H(Y) in the source paper |
601
|
335 |
2 |
c.335G>T |
R112L |
missense mutation |
Degirmenci (2017) |
Later-Onset |
M |
69 |
Turkey |
0.032 |
v3.5 |
602
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Eng (1997) |
Variant |
|
|
|
0.014 |
|
603
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.014 |
|
604
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Park (2009) |
Atypical |
|
|
|
0.014 |
|
605
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.014 |
|
606
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Lee (2010) |
Variant |
|
|
|
0.014 |
|
607
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Glass (2004) |
Variant |
M |
|
|
0.014 |
|
608
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.014 |
|
609
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Wu (2011) |
|
|
|
|
0.014 |
|
610
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Burlina (2008) |
|
|
|
|
0.014 |
|
611
|
337 |
2 |
c.337T>C |
F113L |
missense mutation |
Rodr_guez-Mar_ (2003) |
Classic |
|
|
|
0.014 |
v3.5.1 |
612
|
337 |
2 |
c.337_354del18 |
|
deletion |
Eng (1994) |
|
|
|
|
|
|
613
|
337 |
2 |
c.337T>A |
F113I |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.038 |
v3.5 |
614
|
338 |
2 |
c.338T>C |
F113S |
missense mutation |
Blaydon (2001) |
Hetero |
F |
|
European |
0.005 |
|
615
|
338 |
2 |
c.338T>C |
F113S |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.005 |
|
616
|
338 |
2 |
c.338T>C |
F113S |
missense mutation |
Wu (2011) |
|
|
|
|
0.005 |
|
617
|
338 |
2 |
c.338T>C |
F113S |
missense mutation |
Germain (2002) |
Classic |
M |
47 |
British |
0.005 |
|
618
|
338 |
2 |
c.338T>C |
F113S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.005 |
|
619
|
350 |
2 |
c.350_355delTTCGCCinsA |
|
indel |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
|
v3.5 |
620
|
352 |
2 |
c.352C>A |
R118S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.114 |
|
621
|
352 |
2 |
c.352C>G |
R118G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.017 |
|
622
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Spada (2006) |
Later-Onset? |
|
newborn |
Italian |
0.015 |
|
623
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Baptista (2010) |
|
|
Young |
Portuguese |
0.015 |
|
624
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Caetano (2014) |
|
F |
60 |
Portugal ? |
0.015 |
|
625
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Herrera (2014) |
|
M/F |
|
|
0.015 |
|
626
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Pasqualim (2014) |
|
F |
|
|
0.015 |
|
627
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.015 |
|
628
|
352 |
2 |
c.352C>T |
R118C |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.015 |
|
629
|
352 |
2 |
c.352C>2 |
R118C |
funct. variant? |
Ferreira (2015) |
non-pathogenic? |
|
|
|
0.015 |
|
630
|
353 |
2 |
c.353G>A |
R118H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.048 |
|
631
|
353 |
2 |
c.353G>A |
R118H |
VUS? |
Duro (2018) |
VUS? |
|
|
|
0.048 |
v3.5.1 |
632
|
353 |
2 |
c.353G>C |
R118P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.094 |
|
633
|
353 |
2 |
c.353G>T |
R118L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.024 |
|
634
|
354 |
2 |
c.354_368del15 |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
635
|
355 |
2 |
c.355C>T |
Q119X |
nonsense mutation |
Davies (1996) |
Classic |
M |
|
British |
|
|
636
|
355 |
2 |
c.355C>T |
Q119X |
nonsense mutation |
Liu (2012) |
|
|
|
|
|
the source paper was not written in English. |
637
|
355 |
2 |
c.355C>T |
Q119X |
nonsense mutation |
Tian (2013) |
|
|
|
|
|
the source paper was not written in English. |
638
|
355 |
2 |
c.355C>T |
Q119X |
nonsense mutation |
Rigoldi (2014) |
|
F |
|
Spanish |
|
|
639
|
355 |
2 |
c.355C>T |
Q119X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
640
|
358 |
2 |
c.358C>G |
L120V |
missense mutation |
Chien (2009) |
|
|
|
|
0.016 |
|
641
|
358 |
2 |
c.358C>G |
L120V |
missense mutation |
Hwu (2009) |
|
|
newborn |
Taiwanese |
0.016 |
|
642
|
358 |
2 |
c.358C>G |
L120V |
missense mutation |
Lukas (2013) |
|
|
|
|
0.016 |
|
643
|
358 |
2 |
c.358 |
L120X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
644
|
358 |
2 |
c.358 |
L120X |
nonsense mutation |
Pasqualim (2014) |
|
F |
|
|
|
|
645
|
359 |
2 |
c.359T>C |
L120P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.048 |
|
646
|
359 |
2 |
c.359T>C |
L120P |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.048 |
v3.5.1 |
647
|
359 |
2 |
c.359_364delTAGCTA |
|
deletion |
Eng (1994) |
|
|
|
|
|
|
648
|
359 |
2 |
c.359_361delTAGinsCAA |
|
indel |
Eng (1994) |
|
|
|
|
|
|
649
|
361 |
2 |
c.361G>C |
A121P |
missense mutation |
Lorenz (2003) |
Classic |
M |
51 |
Austria |
0.115 |
|
650
|
361 |
2 |
c.361G>C |
A121P |
missense mutation |
Kotanko (2004) |
Classic |
|
|
Austrian |
0.115 |
|
651
|
361 |
2 |
c.361G>A |
A121T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.022 |
|
652
|
361 |
2 |
c.361G>A |
A121T |
missense mutation |
Lukas (2016) |
|
F |
|
|
0.022 |
v3.5 |
653
|
363 |
2 |
c.363delT |
|
deletion |
Erdos (2008) |
Classic |
M |
16 |
Hungarian |
|
|
654
|
364 |
2 |
c.364 |
R122H |
missense mutation |
Smid (2015) |
|
M/F |
|
|
|
R112H? N122 |
655
|
364 |
2 |
c.364 |
R122H |
missense mutation |
Bouwman (2013) |
|
|
|
|
|
R112H? N122 |
656
|
367 |
2 |
c.367TAT>ATG |
Y123M |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.009 |
with N215S |
657
|
367 |
2 |
c.367TAT>ATG |
Y123M |
missense mutation |
Branton (2002) |
|
|
|
|
0.009 |
|
658
|
369 |
IVS2 |
c.369+1G>A |
|
splicing defect |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
659
|
369 |
IVS2 |
c.369+2T>G |
|
splicing defect |
Eng (1993) |
Classic |
|
|
Sephardic Jewish |
|
|
660
|
369 |
IVS2 |
c.369+3_547+954del4096insT |
|
indel |
Dobrovolny (2011) |
Hetero |
F |
|
|
|
v3.5.1 |
661
|
369 |
IVS2 |
c.369+5G>T |
|
splicing defect |
Auray-Blais (2015) |
|
|
|
|
|
v3.5.1 |
662
|
369 |
IVS2 |
c.369+806_c.640-416del |
|
deletion |
Sawada(2020) |
Classic |
M |
47 |
Japanese |
|
v3.5 |
663
|
370 |
IVS2 |
c.370-2A>G |
|
splicing defect |
Schafer (2005) |
|
|
|
|
|
|
664
|
370 |
3 |
c.370delG |
|
deletion |
Sakuraba (2018) |
Classic |
M |
38 |
Japanese |
|
v3.5 |
665
|
371 |
3 |
c.371T>A |
V124D |
missense mutation |
Kwan (2007) |
|
|
|
|
0.098 |
the full paper was not found |
666
|
371 |
3 |
c.371T>G |
V124G |
missense mutation |
Pan (2016) |
Later-Onset |
M |
30 |
Chinese |
0.009 |
v3.5 |
667
|
373 |
3 |
c.373C>T |
H125Y |
missense mutation |
Pan (2016) |
Later-Onset |
M |
41 |
Chinese |
0.098 |
v3.5 |
668
|
374 |
3 |
c.374A>C |
H125P |
missense mutation |
Auray-Blais (2008) |
|
|
|
|
0.164 |
|
669
|
374 |
3 |
c.374A>C |
H125P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.164 |
|
670
|
374 |
3 |
c.374A>T |
H125L |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.090 |
v3.5.1 |
671
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Branton (2002) |
|
|
|
|
0.003 |
|
672
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
De Brabander (2013) |
|
|
|
|
0.003 |
|
673
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.003 |
|
674
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.003 |
|
675
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Herrera (2014) |
|
F |
84 |
|
0.003 |
|
676
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Pasqualim (2014) |
|
F |
|
|
0.003 |
|
677
|
376 |
3 |
c.376A>G |
S126G |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.003 |
|
678
|
376 |
3 |
c.376A>G |
S126G |
VUS? |
Duro (2018) |
VUS? |
|
|
|
0.003 |
v3.5.1 |
679
|
376 |
3 |
c.376 |
S126R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.124 |
|
680
|
376 |
3 |
c.376A>T |
S126C |
missense mutation |
Lukas (2013) |
|
|
|
|
0.002 |
|
681
|
377 |
3 |
c.377G>A |
S126N |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
682
|
377 |
3 |
c.377G>C |
S126T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
683
|
377 |
3 |
c.377G>T |
S126I |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
684
|
379 |
3 |
c.379A>T |
K127X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
685
|
379 |
3 |
c.379A>T |
K127X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
686
|
383 |
3 |
c.383G>A |
G128E |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
0.051 |
|
687
|
383 |
3 |
c.383G>A |
G128E |
missense mutation |
Wu (2011) |
|
|
|
|
0.051 |
|
688
|
383 |
3 |
c.383G>A |
G128E |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.051 |
|
689
|
383 |
3 |
c.383G>A |
G128E |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.051 |
|
690
|
386 |
3 |
c.386T>C |
L129P |
missense mutation |
Whybra (2001) |
Hetero |
F |
|
|
0.036 |
|
691
|
386 |
3 |
c.386T>C |
L129P |
missense mutation |
Lukas (2013) |
Classic/Later-Onset |
|
|
|
0.036 |
|
692
|
386 |
3 |
c.386_389dupTGAA |
|
duplication |
Sawada(2020) |
Classic |
M |
15 |
Japanese |
|
v3.5 |
693
|
388 |
3 |
c.388_389insT |
|
insertion |
Barbey (2015) |
Hetero |
F |
|
|
|
v3.5.1 |
694
|
389 |
3 |
c.389A>G |
K130R |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.023 |
v3.5.1 |
695
|
392 |
3 |
c.392T>C |
L131P |
missense mutation |
Eng (1994) |
Classic |
|
|
German |
0.053 |
|
696
|
392 |
3 |
c.392T>C |
L131P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.053 |
|
697
|
392 |
3 |
c.392T>C |
L131P |
missense mutation |
Wu (2011) |
|
|
|
|
0.053 |
|
698
|
392 |
3 |
c.392T>C |
L131P |
missense mutation |
Glass (2004) |
Classic |
M |
26 |
|
0.053 |
|
699
|
392 |
3 |
c.392T>C |
L131P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.053 |
|
700
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.189 |
|
701
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.189 |
|
702
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Shin (2007) |
|
|
|
|
0.189 |
|
703
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.189 |
|
704
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
0.189 |
|
705
|
394 |
3 |
c.394G>A |
G132R |
missense mutation |
Zhang (2007) |
|
|
|
|
0.189 |
|
706
|
395 |
3 |
c.395G>A |
G132E |
missense mutation |
Kwan (2007) |
|
|
|
|
0.228 |
the full paper was not found |
707
|
395 |
3 |
c.395G>A |
G132E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.228 |
|
708
|
395 |
3 |
c.395G>C |
G132A |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.026 |
v3.5.1 |
709
|
400 |
3 |
c.400T>G |
Y134D |
missense mutation |
Moiseev (2019) |
Classic |
M |
31 |
Russian |
0.171 |
v3.5 |
710
|
400 |
3 |
c.400T>C |
Y134H |
missense mutation |
Ferri (2018) |
Classic |
M |
46 |
|
0.123 |
v3.5 |
711
|
401 |
3 |
c.401A>C |
Y134S |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.130 |
|
712
|
401 |
3 |
c.401A>C |
Y134S |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.130 |
|
713
|
401 |
3 |
c.401A>C |
Y134S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.130 |
|
714
|
402 |
3 |
c.402T>G |
Y134X |
nonsense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
|
|
715
|
402 |
3 |
c.402T>G |
Y134X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
716
|
402 |
3 |
c.402T>G |
Y134X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
717
|
402 |
3 |
c.402T>G |
Y134X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
718
|
402 |
3 |
c.402delT |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
719
|
404 |
3 |
c.404C>T |
A135V |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.028 |
|
720
|
404 |
3 |
c.404C>T |
A135V |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.028 |
|
721
|
404 |
3 |
c.404C>T |
A135V |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
Czech and Slovak |
0.028 |
|
722
|
406 |
3 |
c.406G>C |
D136H |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.247 |
|
723
|
406 |
3 |
c.406G>C |
D136H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.247 |
|
724
|
406 |
3 |
c.406G>T |
D136Y |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.297 |
|
725
|
406 |
3 |
c.406G>T |
D136Y |
missense mutation |
Bouwman (2013) |
|
|
|
|
0.297 |
|
726
|
408 |
3 |
c.408T>A |
D136E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.054 |
|
727
|
409 |
3 |
c.409G>T |
V137F |
missense mutation |
Nampoothiri(2020) |
Classic |
M |
15 |
Indian |
0.103 |
v3.5 |
728
|
409 |
3 |
c.409delG |
|
deletion |
Takenaka (1996) |
Classic |
|
|
Japanese |
|
|
729
|
412 |
3 |
c.412G>A |
G138R |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.277 |
|
730
|
412 |
3 |
c.412G>A |
G138R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.277 |
|
731
|
412 |
3 |
c.412G>A |
G138R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.277 |
|
732
|
412 |
3 |
c.412G>A |
G138R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.277 |
|
733
|
413 |
3 |
c.413G>A |
G138E |
missense mutation |
Germain (2002) |
Hetero |
F |
56 |
German |
0.121 |
|
734
|
413 |
3 |
c.413G>A |
G138E |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.121 |
|
735
|
413 |
3 |
c.413G>A |
G138E |
missense mutation |
Wu (2011) |
|
|
|
|
0.121 |
|
736
|
413 |
3 |
c.413G>A |
G138E |
missense mutation |
Glass (2004) |
Classic |
M |
35 |
|
0.121 |
|
737
|
413 |
3 |
c.413dupG |
|
duplication |
Schafer (2005) |
|
|
|
|
|
|
738
|
416 |
3 |
c.416A>G |
N139S |
missense mutation |
Havndrup (2010) |
Hetero |
F |
|
|
0.017 |
|
739
|
416 |
3 |
c.416A>G |
N139S |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.017 |
|
740
|
422 |
3 |
c.422C>T |
T141I |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.098 |
|
741
|
422 |
3 |
c.422C>T |
T141I |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.098 |
|
742
|
424 |
3 |
c.424T>C |
C142R |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.065 |
|
743
|
424 |
3 |
c.424T>C |
C142R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.065 |
|
744
|
424 |
3 |
c.424T>C |
C142R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.065 |
|
745
|
424 |
3 |
c.424T>C |
C142R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.065 |
|
746
|
424 |
3 |
c.424T>C |
C142R |
missense mutation |
Wu (2011) |
|
|
|
|
0.065 |
|
747
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Okumiya (1995)_2 |
Classic |
M |
5 |
Japanese |
0.046 |
|
748
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Ebrahim (2012) |
|
|
|
|
0.046 |
|
749
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.046 |
|
750
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.046 |
|
751
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Takata (1997) |
Classic |
|
|
Japanese |
0.046 |
|
752
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.046 |
|
753
|
425 |
3 |
c.425G>A |
C142Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.046 |
|
754
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
755
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
756
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
757
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
758
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
759
|
426 |
3 |
c.426C>A |
C142X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
760
|
426 |
3 |
c.426C>G |
C142W |
missense mutation |
Schafer (2005) |
|
|
|
|
0.010 |
|
761
|
426 |
3 |
c.426C>G |
C142W |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.010 |
|
762
|
426 |
3 |
c.426C>G |
C142W |
missense mutation |
Park (2009) |
Classic |
|
|
Korean |
0.010 |
|
763
|
426 |
3 |
c.426C>G |
C142W |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.010 |
|
764
|
426 |
3 |
c.426dupC |
|
duplication |
Shabbeer (2002) |
Classic |
|
|
|
|
|
765
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Eng (1994) |
Classic |
|
|
Nova Scotian |
0.014 |
|
766
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Glass (2004) |
Hetero |
|
|
|
0.014 |
|
767
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.014 |
|
768
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Shin (2007) |
|
|
|
|
0.014 |
|
769
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.014 |
|
770
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.014 |
|
771
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
0.014 |
|
772
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.014 |
|
773
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Rosenberg (1999) |
|
|
|
|
0.014 |
|
774
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Wu (2011) |
|
|
|
|
0.014 |
|
775
|
427 |
3 |
c.427G>C |
A143P |
missense mutation |
Branton (2002) |
|
|
|
|
0.014 |
|
776
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Eng (1997) |
Unknown |
|
|
|
0.010 |
|
777
|
427 |
3 |
c.427G>A |
A143T |
funct. variant? |
Smid (2015)_2 |
non-Pathogenic? |
|
|
|
0.010 |
|
778
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Corry (2011) |
|
|
|
|
0.010 |
|
779
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Lin (2009) |
Variant |
M |
|
|
0.010 |
|
780
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Shin (2007) |
|
|
|
|
0.010 |
|
781
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.010 |
|
782
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Shabbeer (2006) |
Later-Onset |
|
|
|
0.010 |
classic with Q312H. late-onset only A143T |
783
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
|
0.010 |
|
784
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Mechtler (2012) |
|
M/F |
|
|
0.010 |
|
785
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Terryn (2013) |
Later-Onset |
M |
|
|
0.010 |
|
786
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Blaydon (2001) |
Classic |
|
|
|
0.010 |
|
787
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.010 |
|
788
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Lee (2014) |
non-Classic |
|
|
Taiwanese |
0.010 |
|
789
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Mignani (2008) |
|
|
|
|
0.010 |
|
790
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Scott (2013) |
|
|
|
|
0.010 |
|
791
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Lukas (2013) |
Classic/Variant |
|
|
|
0.010 |
|
792
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Wu (2011) |
|
|
|
|
0.010 |
|
793
|
427 |
3 |
c.427G>A |
A143T |
funct. variant? |
Smid (2015) |
non-Pathogenic? |
M/F |
|
|
0.010 |
|
794
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.010 |
|
795
|
427 |
3 |
c.427G>A |
A143T |
missense mutation |
De Brabander (2013) |
|
|
|
|
0.010 |
|
796
|
427 |
3 |
c.427G>A |
A143T |
funct. variant? |
Lenders (2016) |
non-Pathogenic? |
|
|
|
0.010 |
|
797
|
427 |
3 |
c.427 |
Y143X |
nonsense mutation |
Glass (2004) |
Classic |
M |
43 |
|
|
Y134? |
798
|
428 |
3 |
c.428C>T |
A143V |
VUS? |
Sawada(2020) |
VUS? |
F |
4 |
Japanese |
0.031 |
v3.5 |
799
|
431 |
3 |
c.431G>A |
G144D |
missense mutation |
Li (2014) |
Hetero |
F |
26 |
Chinese |
0.055 |
|
800
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Eng (1994) |
Classic |
|
|
American Indian |
0.005 |
|
801
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Wu (2011) |
|
|
|
|
0.005 |
|
802
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.005 |
|
803
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.005 |
|
804
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.005 |
|
805
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.005 |
|
806
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Rosenberg (1999) |
|
|
|
|
0.005 |
|
807
|
431 |
3 |
c.431G>T |
G144V |
missense mutation |
Branton (2002) |
|
|
|
|
0.005 |
|
808
|
436 |
3 |
c.436C>T |
P146S |
missense mutation |
Ploos van Amstel (1994) |
Later-Onset |
|
|
Dutch |
0.024 |
|
809
|
436 |
3 |
c.436C>T |
P146S |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.024 |
|
810
|
436 |
3 |
c.436C>T |
P146S |
missense mutation |
Eng (1994)_2 |
Mild |
|
|
Dutch |
0.024 |
|
811
|
436 |
3 |
c.436C>T |
P146S |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.024 |
|
812
|
437 |
3 |
c.437C>G |
P146R |
missense mutation |
Sakuraba (2018) |
Hetero |
F |
65 |
Japanese |
0.082 |
v3.5 |
813
|
437 |
3 |
c.437C>T |
P146L |
missense mutation |
Lee (2019) |
|
|
|
|
0.050 |
v3.5 |
814
|
439 |
3 |
c.439G>A |
G147R |
missense mutation |
Schafer (2005) |
|
|
|
|
0.278 |
|
815
|
439 |
3 |
c.439G>A |
G147R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.278 |
|
816
|
439 |
3 |
c.439G>A |
G147R |
missense mutation |
Tahir (2007) |
Classic |
M |
55 |
|
0.278 |
G147RR in the source paper |
817
|
440 |
3 |
c.440G>A |
G147E |
missense mutation |
Sakuraba (2018) |
Classic |
M |
23 |
Japanese |
0.196 |
v3.5 |
818
|
440 |
3 |
c.440G>T |
G147V |
missense mutation |
Sawada(2020) |
Classic |
M |
45 |
Japanese |
0.167 |
v3.5 |
819
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.039 |
|
820
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.039 |
|
821
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
0.039 |
|
822
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Rigoldi (2014) |
Classic |
M |
|
Spanish |
0.039 |
|
823
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.039 |
|
824
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.039 |
|
825
|
443 |
3 |
c.443G>A |
S148N |
missense mutation |
Wu (2011) |
|
|
|
|
0.039 |
|
826
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.104 |
|
827
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.104 |
|
828
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Topaloglu (1999) |
Classic |
|
|
|
0.104 |
|
829
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.104 |
|
830
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.104 |
|
831
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.104 |
|
832
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.104 |
|
833
|
444 |
3 |
c.444T>G |
S148R |
missense mutation |
Wu (2011) |
|
|
|
|
0.104 |
|
834
|
451 |
3 |
c.451_453delTAC |
|
deletion |
Nampoothiri(2020) |
Classic |
M |
14 |
Indian |
|
v3.5 |
835
|
452 |
3 |
c.452delA |
|
deletion |
Pisani (2012) |
|
|
|
|
|
|
836
|
453 |
3 |
c.453C>A |
Y151X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
837
|
453 |
3 |
c.453C>A |
Y151X |
nonsense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
|
|
838
|
453 |
3 |
c.453C>A |
Y151X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
839
|
453 |
3 |
c.453C>A |
Y151X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
840
|
454 |
3 |
c.454T>C |
Y152H |
missense mutation |
Battaglia (2019) |
Later-Onset |
M |
29 |
Bangladeshi |
0.040 |
v3.5 |
841
|
455 |
3 |
c.455A>G |
Y152C |
missense mutation |
Tøndel (2015) |
|
M |
4 |
|
0.035 |
v3.5 |
842
|
456 |
3 |
c.456C>A |
Y152X |
nonsense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
|
843
|
456 |
3 |
c.456C>A |
Y152X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
844
|
456 |
3 |
c.456C>A |
Y152X |
nonsense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
|
|
845
|
456 |
3 |
c.456C>A |
Y152X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
846
|
457 |
3 |
c.457_459delGAC |
|
deletion |
Shabbeer (2005) |
Hetero |
F |
|
|
|
|
847
|
461 |
3 |
c.461T>C |
I154T |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.003 |
v3.5 |
848
|
463 |
3 |
c.463G>C |
D155H |
missense mutation |
Dobrovolny (2005) |
Classic |
M |
27 |
Czech and Slovak |
0.305 |
|
849
|
463 |
3 |
c.463G>C |
D155H |
missense mutation |
Rozenfeld (2006) |
Classic |
M |
23 |
|
0.305 |
|
850
|
465 |
3 |
c.465T>A |
D155E |
missense mutation |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
0.037 |
v3.5 |
851
|
466 |
3 |
c.466G>A |
A156T |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Danish |
0.030 |
|
852
|
466 |
3 |
c.466G>A |
A156T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.030 |
|
853
|
466 |
3 |
c.466G>A |
A156T |
missense mutation |
Havndrup (2010) |
|
M/F |
44 |
|
0.030 |
|
854
|
466 |
3 |
c.466G>A |
A156T |
missense mutation |
Madsen (1995) |
|
|
|
|
0.030 |
|
855
|
466 |
3 |
c.466 |
A156N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.058 |
|
856
|
467 |
3 |
c.467C>A |
A156D |
missense mutation |
Lukas (2013) |
|
|
|
|
0.112 |
|
857
|
467 |
3 |
c.467C>A |
A156D |
missense mutation |
Pasqualim (2014) |
|
F |
|
|
0.112 |
|
858
|
467 |
3 |
c.467C>A |
A156D |
missense mutation |
Turaca (2012) |
|
M |
|
|
0.112 |
|
859
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Okumiya (1995)_2 |
Classic |
M |
25 |
Japanese |
0.065 |
|
860
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.065 |
|
861
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Ishii (2007) |
Classic |
|
|
|
0.065 |
|
862
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.065 |
|
863
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Takata (1997) |
Classic |
M |
|
Japanese |
0.065 |
|
864
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.065 |
|
865
|
467 |
3 |
c.467C>T |
A156V |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.065 |
|
866
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Eng (1994) |
Classic |
|
|
African-American |
|
|
867
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
868
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
869
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
870
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
871
|
469 |
3 |
c.469C>T |
Q157X |
nonsense mutation |
Erdos (2008) |
|
|
|
|
|
|
872
|
477 |
3 |
c.477delT |
|
deletion |
Erdos (2008) |
Classic |
M |
16 |
Hungarian |
|
|
873
|
479 |
3 |
c.479C>A |
A160D |
missense mutation |
Pan (2016) |
Later-Onset |
M |
57 |
Chinese |
0.136 |
v3.5 |
874
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Eng (1993) |
Classic |
|
|
Italian |
0.043 |
|
875
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.043 |
|
876
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Wu (2011) |
|
|
|
|
0.043 |
|
877
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Italian |
0.043 |
|
878
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.043 |
|
879
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Kotanko (2004) |
|
|
|
|
0.043 |
|
880
|
484 |
3 |
c.484T>C |
W162R |
missense mutation |
Lorenz (2003) |
Classic |
M |
64 |
Austria |
0.043 |
|
881
|
484 |
3 |
c.484T>G |
W162G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.016 |
|
882
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Rosenberg (1999) |
Classic |
|
|
|
|
|
883
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
884
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Germain (2002) |
Classic |
M |
39 |
British |
|
|
885
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
886
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
887
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Glass (2004) |
Hetero |
F |
|
|
|
|
888
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Blaydon (2001) |
Classic |
M |
|
|
|
|
889
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
890
|
485 |
3 |
c.485G>A |
W162X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
891
|
485 |
3 |
c.485G>T |
W162L |
missense mutation |
Walsh (2017) |
|
|
|
|
0.012 |
v3.5 |
892
|
486 |
3 |
c.486G>T |
W162C |
missense mutation |
Germain (1996) |
Hetero |
F |
|
|
0.045 |
|
893
|
486 |
3 |
c.486G>T |
W162C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.045 |
|
894
|
486 |
3 |
c.486G>T |
W162C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.045 |
|
895
|
486 |
3 |
c.486G>T |
W162C |
missense mutation |
Lukas (2013) |
|
|
|
|
0.045 |
|
896
|
486 |
3 |
c.486G>T |
W162C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.045 |
|
897
|
486 |
3 |
c.486_498del13 |
|
deletion |
Shabbeer (2002) |
Classic |
|
|
|
|
|
898
|
487 |
3 |
c.487G>C |
G163R |
missense mutation |
Pan (2016) |
Hetero |
F |
47 |
Chinese |
0.026 |
v3.5 |
899
|
488 |
3 |
c.488G>T |
G163V |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.017 |
|
900
|
488 |
3 |
c.488G>T |
G163V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.017 |
|
901
|
490 |
3 |
c.490G>T |
V164L |
missense mutation |
Lukas (2016) |
|
|
|
|
0.046 |
v3.5 |
902
|
491 |
3 |
c.491T>G |
V164G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.009 |
|
903
|
493 |
3 |
c.493G>C |
D165H |
missense mutation |
Rakoczi (2007) |
|
|
|
|
0.143 |
the source paper was not written in English. |
904
|
493 |
3 |
c.493G>C |
D165H |
missense mutation |
Iemolo (2014) |
|
M/F |
|
|
0.143 |
|
905
|
493 |
3 |
c.493G>C |
D165H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.143 |
|
906
|
493 |
3 |
c.493G>C |
D165H |
missense mutation |
Erdos (2008) |
Classic |
M |
38 |
Hungarian |
0.143 |
|
907
|
493 |
3 |
c.493G>T |
D165Y |
missense mutation |
Lukas (2013) |
|
|
|
|
0.075 |
|
908
|
493 |
3 |
c.493G>A |
D165N |
VUS? |
Sawada(2020) |
VUS? |
F |
6 |
Japanese |
0.034 |
v3.5 |
909
|
494 |
3 |
c.494A>T |
D165V |
missense mutation |
Davies (1994) |
Classic |
|
|
|
0.156 |
|
910
|
494 |
3 |
c.494A>T |
D165V |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.156 |
|
911
|
494 |
3 |
c.494A>T |
D165V |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.156 |
|
912
|
494 |
3 |
c.494A>T |
D165V |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.156 |
|
913
|
494 |
3 |
c.494A>T |
D165V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.156 |
|
914
|
495 |
3 |
c.495T>? |
D165E |
missense mutation |
Laenens(2018) |
|
M |
|
Belgium |
0.029 |
v3.5 |
915
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Okumiya (1995)_2 |
Classic |
M |
11 |
Japanese |
0.031 |
|
916
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.031 |
|
917
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Ishii (2007) |
Classic |
|
|
|
0.031 |
|
918
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.031 |
|
919
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.031 |
|
920
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Takata (1997) |
Classic |
M |
|
Japanese |
0.031 |
|
921
|
496 |
3 |
c.496C>G |
L166V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.031 |
|
922
|
496 |
3 |
c.496_497delCTinsGG |
L166G |
indel |
Shabbeer (2006) |
Classic |
|
|
|
0.081 |
|
923
|
496 |
3 |
c.496_497delCTinsGG |
L166G |
indel |
Saito (2013) |
Classic |
|
|
|
0.081 |
|
924
|
500 |
3 |
c.500T>A |
L167Q |
missense mutation |
Lukas (2013) |
|
|
|
|
0.009 |
|
925
|
500 |
3 |
c.500T>C |
L167P |
missense mutation |
Morrone (2003) |
Classic |
M |
18 |
Italian |
0.090 |
|
926
|
503 |
3 |
c.503A>G |
K168R |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.014 |
|
927
|
504 |
3 |
c.504A>C |
K168N |
missense mutation |
Kwan (2007) |
|
|
|
|
0.193 |
the full paper was not found |
928
|
506 |
3 |
c.506T>C |
F169S |
missense mutation |
Cooper (2000) |
|
|
|
|
0.035 |
the full paper was not found |
929
|
506 |
3 |
c.506T>C |
F169S |
missense mutation |
Sadick (2007) |
|
M |
58 |
|
0.035 |
|
930
|
506 |
3 |
c.506T>C |
F169S |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.035 |
|
931
|
506 |
3 |
c.506T>C |
F169S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.035 |
|
932
|
508 |
3 |
c.508G>A |
D170N |
missense mutation |
Lukas (2013) |
|
|
|
|
0.062 |
|
933
|
508 |
3 |
c.508G>C |
D170H |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.120 |
|
934
|
508 |
3 |
c.508G>C |
D170H |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.120 |
|
935
|
508 |
3 |
c.508G>T |
D170Y |
missense mutation |
Moiseev (2019) |
Classic |
M |
42 |
Russian |
0.128 |
v3.5 |
936
|
509 |
3 |
c.509A>T |
D170V |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.072 |
|
937
|
509 |
3 |
c.509A>T |
D170V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.072 |
|
938
|
509 |
3 |
c.509A>T |
D170V |
missense mutation |
Wu (2011) |
|
|
|
|
0.072 |
|
939
|
509 |
3 |
c.509A>T |
D170V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.072 |
|
940
|
511 |
3 |
c.511G>C |
G171R |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
Czech and Slovak |
0.283 |
|
941
|
511 |
3 |
c.511G>C |
G171R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.283 |
|
942
|
511 |
3 |
c.511G>T |
G171C |
missense mutation |
Nagasaki (2008) |
Classic |
M |
22 |
Japanese |
0.065 |
|
943
|
511 |
3 |
c.511G>T |
G171C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.065 |
|
944
|
511 |
3 |
c.511G>A |
G171S |
missense mutation |
Koulousios (2017) |
Later-Onset |
M |
32 |
Albanian |
0.039 |
v3.5 |
945
|
512 |
3 |
c.512G>A |
G171D |
missense mutation |
Shabbeer (2005) |
Classic |
M |
|
|
0.095 |
|
946
|
512 |
3 |
c.512G>A |
G171D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.095 |
|
947
|
512 |
3 |
c.512G>A |
G171D |
missense mutation |
Wu (2011) |
|
|
|
|
0.095 |
|
948
|
512 |
3 |
c.512G>A |
G171D |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.095 |
|
949
|
514 |
3 |
c.514T>C |
C172R |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.049 |
|
950
|
514 |
3 |
c.514T>C |
C172R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.049 |
|
951
|
514 |
3 |
c.514T>C |
C172R |
missense mutation |
Glass (2004) |
Classic |
M |
34 |
|
0.049 |
|
952
|
514 |
3 |
c.514T>C |
C172R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.049 |
|
953
|
514 |
3 |
c.514T>G |
C172G |
missense mutation |
Yasuda (2003) |
Classic |
M |
|
|
0.028 |
with D313Y |
954
|
514 |
3 |
c.514T>G |
C172G |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.028 |
|
955
|
514 |
3 |
c.514T>G |
C172G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.028 |
|
956
|
514 |
3 |
c.514T>G |
C172G |
missense mutation |
Wu (2011) |
|
|
|
|
0.028 |
|
957
|
515 |
3 |
c.515G>T |
C172F |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.039 |
|
958
|
515 |
3 |
c.515G>T |
C172F |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.039 |
|
959
|
515 |
3 |
c.515G>T |
C172F |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.039 |
|
960
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Eng (1994) |
Classic |
|
|
Hispanic |
0.041 |
|
961
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.041 |
|
962
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Rigoldi (2014) |
Classic |
M |
21 |
|
0.041 |
|
963
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.041 |
|
964
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Glass (2004) |
Classic |
M |
36 |
|
0.041 |
|
965
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.041 |
|
966
|
515 |
3 |
c.515G>A |
C172Y |
missense mutation |
Wu (2011) |
|
|
|
|
0.041 |
|
967
|
515 |
3 |
c.515G>C |
C172S |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.026 |
v3.5.1 |
968
|
516 |
3 |
c.516T>G |
C172W |
missense mutation |
Schafer (2005) |
|
|
|
|
0.037 |
|
969
|
519 |
3 |
c.519C>A |
Y173X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
970
|
519 |
3 |
c.519C>A |
Y173X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
971
|
520 |
3 |
c.520T>C |
C174R |
missense mutation |
Meng (2010) |
Classic |
M |
|
Chinese |
0.152 |
the source paper was not written in English. |
972
|
520 |
3 |
c.520delT |
|
deletion |
Blaydon (2001) |
Classic |
M |
|
European |
|
|
973
|
520 |
3 |
c.520dupT |
|
duplication |
Lukas (2013) |
|
|
|
|
|
|
974
|
520 |
3 |
c.520T>G |
C174G |
missense mutation |
Serebrinsky (2015) |
Later-Onset |
M |
46 |
Spanish |
0.008 |
personal communication |
975
|
521 |
3 |
c.521G>A |
C174Y |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.139 |
v3.5 |
976
|
523 |
3 |
c.523G>A |
D175N |
missense mutation |
Lukas (2013) |
|
|
|
|
0.016 |
|
977
|
525 |
3 |
c.525C>G |
D175E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.022 |
|
978
|
525 |
3 |
c.525_526delCA |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
979
|
530 |
3 |
c.530T>A |
L177X |
nonsense mutation |
Shabbeer (2005) |
Classic |
M |
|
|
|
|
980
|
530 |
3 |
c.530T>A |
L177X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
981
|
530 |
3 |
c.530T>A |
L177X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
982
|
538 |
3 |
c.538T>G |
L180V |
VUS? |
Sawada(2020) |
VUS? |
M |
13 |
Japanese |
0.047 |
v3.5 |
983
|
540 |
3 |
c.540G> |
L180F |
missense mutation |
personal communication |
Hetero |
F |
43 |
Spanish |
0.054 |
personal communication |
984
|
540 |
3 |
c.540G>T |
L180F |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.054 |
v3.5 |
985
|
547 |
3 |
c.547G>C |
G183R |
missense mutation |
Meng (2010) |
Classic |
M |
|
Chinese |
0.183 |
the source paper was not written in English. |
986
|
547 |
3 |
c.547G>A |
G183S |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.088 |
|
987
|
547 |
3 |
c.547G>A |
G183S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.088 |
|
988
|
547 |
3 |
c.547G>A |
G183S |
missense mutation |
Wu (2011) |
|
|
|
|
0.088 |
|
989
|
547 |
IVS3 |
c.547+1G>A |
|
splicing defect |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
990
|
547 |
IVS3 |
c.547+1G>C |
|
splicing defect |
Mills (2004) |
Classic |
M |
|
|
|
v3.5.1 |
991
|
547 |
IVS3 |
c.547+3A>G |
|
splicing defect |
Seo (2016) |
Classic |
M |
45 |
|
|
v3.5.1 |
992
|
547 |
IVS3 |
c.547+395G>C |
|
splicing defect |
Higuchi (2016) |
|
|
|
Japanese |
|
v3.5.1 |
993
|
547 |
IVS3 |
c.547+399_547+402dupGGTA |
|
insertion |
Echevarria (2016) |
Hetero |
F |
66 |
|
|
v3.5.1 |
994
|
548 |
IVS3 |
c.548-3_553delCAGGTTATA |
|
deletion |
Romani (2015) |
|
|
|
|
|
v3.5.1 |
995
|
548 |
IVS3 |
c.548-2A>G |
|
splicing defect |
Yoshimitsu (2011) |
Classic |
M |
52 |
Japanese |
|
v3.5.1 |
996
|
548 |
IVS3 |
c.548-1G>A |
|
splicing defect |
Yokoi (1991) |
Classic |
M |
11 |
Japanese |
|
v3.5.1 |
997
|
548 |
IVS3 |
c.548-1G>C |
|
splicing defect |
Germain (1999) |
|
M |
|
|
|
|
998
|
548 |
IVS3 |
c.548-1G>T |
|
splicing defect |
Davies (1994) |
Classic |
|
|
|
|
|
999
|
548 |
4 |
c.548G>C |
G183A |
missense mutation |
Filoni (2010) |
Hetero |
F |
49- |
Italian |
0.063 |
|
1000
|
548 |
4 |
c.548G>C |
G183A |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.063 |
|
1001
|
548 |
4 |
c.548G>C |
G183A |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.063 |
|
1002
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.204 |
|
1003
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.204 |
|
1004
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Wu (2011) |
|
|
|
|
0.204 |
|
1005
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Germain (2002) |
Classic |
M |
31 |
French |
0.204 |
|
1006
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.204 |
|
1007
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.204 |
|
1008
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Zhang (2007) |
|
|
|
|
0.204 |
|
1009
|
548 |
4 |
c.548G>A |
G183D |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.204 |
|
1010
|
548 |
4 |
c.548G>T |
G183V |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
0.138 |
the full paper was not found |
1011
|
548 |
4 |
c.548G>T |
G183V |
missense mutation |
Lukas (2013) |
|
|
|
|
0.138 |
|
1012
|
550 |
4 |
c.550T>A |
Y184N |
missense mutation |
Tuttolomondo (2012) |
Hetero |
F |
56 |
|
0.032 |
|
1013
|
550 |
4 |
c.550T>G |
Y184D |
missense mutation |
Favalli (2016) |
|
M |
|
|
0.081 |
v3.5 |
1014
|
551 |
4 |
c.551A>G |
Y184C |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.083 |
v3.5.1 |
1015
|
553 |
4 |
c.553A>G |
K185E |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.285 |
v3.5.1 |
1016
|
557 |
4 |
c.557A>C |
H186P |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.139 |
v3.5.1 |
1017
|
559 |
4 |
c.559A>G |
M187V |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.030 |
|
1018
|
559 |
4 |
c.559A>G |
M187V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.030 |
|
1019
|
559 |
4 |
c.559A>G |
M187V |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.030 |
|
1020
|
559 |
4 |
c.559A>G |
M187V |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.030 |
|
1021
|
559 |
4 |
c.559A>G |
M187V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.030 |
|
1022
|
559 |
4 |
c.559_560delAT |
|
deletion |
Nowak (2018) |
Classic |
M |
|
|
|
v3.5.1 |
1023
|
560 |
4 |
c.560T>G |
M187R |
missense mutation |
San Rom_n-Monserrat (2014) |
|
M |
|
|
0.059 |
|
1024
|
560 |
4 |
c.560T>C |
M187T |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.006 |
|
1025
|
560 |
4 |
c.560T>C |
M187T |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.006 |
|
1026
|
560 |
4 |
c.560T>C |
M187T |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.006 |
|
1027
|
561 |
4 |
c.561G> |
M187I |
missense mutation |
Sadick (2007) |
Hetero |
F |
38 |
|
0.036 |
|
1028
|
561 |
4 |
c.561G>A |
M187I |
missense mutation |
Lukas (2016) |
|
|
|
|
0.036 |
v3.5 |
1029
|
564 |
4 |
c.564delC |
|
deletion |
Sawada(2020) |
Classic |
M |
7 |
Japanese |
|
v3.5 |
1030
|
564 |
4 |
c.564delC |
|
deletion |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
|
v3.5 |
1031
|
568 |
4 |
c.568delG |
|
deletion |
Shabbeer (2002) |
|
|
|
|
|
|
1032
|
571 |
4 |
c.571delC |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
1033
|
572 |
4 |
c.572T>A |
L191Q |
missense mutation |
Ashley (2001) |
Classic |
|
|
|
0.007 |
|
1034
|
572 |
4 |
c.572T>A |
L191Q |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.007 |
|
1035
|
572 |
4 |
c.572T>C |
L191P |
missense mutation |
Cooper (2000) |
|
|
|
|
0.086 |
the full paper was not found |
1036
|
572 |
4 |
c.572T>C |
L191P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.086 |
|
1037
|
572 |
4 |
c.572T>C |
L191P |
missense mutation |
Rigoldi (2014) |
Classic |
M |
|
Spanish |
0.086 |
|
1038
|
572 |
4 |
c.572T>C |
L191P |
missense mutation |
Rozenfeld (2006) |
Classic |
M |
25 |
|
0.086 |
|
1039
|
579 |
4 |
c.579delG |
|
deletion |
Pan (2016) |
Classic |
|
|
|
|
v3.5.1 |
1040
|
581 |
4 |
c.581C>T |
T194I |
missense mutation |
Schafer (2005) |
|
|
|
|
0.063 |
|
1041
|
581 |
4 |
c.581C>T |
T194I |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.063 |
|
1042
|
584 |
4 |
c.584G>T |
G195V |
missense mutation |
Nakagawa (2011) |
Hetero |
|
|
|
0.004 |
|
1043
|
584 |
4 |
c.584G>T |
G195V |
missense mutation |
Doi (2012) |
Later-Onset |
M |
55 |
Japanese |
0.004 |
|
1044
|
587 |
4 |
c.587G>C |
R196T |
missense mutation |
Pan (2016) |
Later-Onset |
M |
55 |
Chinese |
0.058 |
v3.5 |
1045
|
588 |
4 |
c.588A>C |
R196S |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.045 |
v3.5 |
1046
|
590 |
4 |
c.590delG |
|
deletion |
Whybra (2001) |
Hetero |
F |
|
|
|
|
1047
|
593 |
4 |
c.593T>C |
I198T |
missense mutation |
Auray-Blais (2015) |
|
|
|
|
0.007 |
no description about phenotype in the source paper |
1048
|
595 |
4 |
c.595G>A |
V199M |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.053 |
|
1049
|
595 |
4 |
c.595dupG |
|
duplication |
Gaspar (2010) |
Hetero |
F |
58 |
|
|
v3.5.1 |
1050
|
596 |
4 |
c.596T>C |
V199A |
missense mutation |
Pan (2016) |
VUS? |
M |
11 |
Chinese |
0.023 |
v3.5 |
1051
|
596 |
4 |
c.596T>G |
V199G |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.031 |
v3.5.1 |
1052
|
599 |
4 |
c.599A>G |
Y200C |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.028 |
v3.5.1 |
1053
|
602 |
4 |
c.602C>T |
S201F |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.007 |
|
1054
|
602 |
4 |
c.602C>T |
S201F |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.007 |
|
1055
|
602 |
4 |
c.602C>T |
S201F |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.007 |
|
1056
|
602 |
4 |
c.602C>T |
S201F |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.007 |
|
1057
|
602 |
4 |
c.602C>A |
S201Y |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.011 |
|
1058
|
602 |
4 |
c.602C>A |
S201Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.011 |
|
1059
|
604 |
4 |
c.604T>C + c.644A>G |
C202R+N215S |
missense mutation |
McConnell (2018) |
Hetero |
F |
71 |
|
|
v3.5 |
1060
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.209 |
|
1061
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Lukas (2013) |
|
|
|
|
0.209 |
|
1062
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.209 |
|
1063
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Kobayashi (2014) |
Hetero |
F |
|
Japanese |
0.209 |
|
1064
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.209 |
|
1065
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.209 |
|
1066
|
605 |
4 |
c.605G>A |
C202Y |
missense mutation |
Wu (2011) |
|
|
|
|
0.209 |
|
1067
|
605 |
4 |
c.605G>T |
C202F |
VUS? |
Sawada(2020) |
VUS? |
M |
|
Japanese |
0.214 |
v3.5 |
1068
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Ploos van Amstel (1994) |
Hetero |
F |
|
Dutch |
0.176 |
|
1069
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Saito (2013) |
Hetero |
F |
|
|
0.176 |
|
1070
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
|
0.176 |
|
1071
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.176 |
|
1072
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Germain (1999) |
Classic |
M |
|
|
0.176 |
|
1073
|
606 |
4 |
c.606T>G |
C202W |
missense mutation |
Bouwman (2013) |
|
|
|
|
0.176 |
|
1074
|
606 |
4 |
c.606delT |
|
deletion |
Vedder (2007) |
|
|
|
|
|
|
1075
|
606 |
4 |
c.606_607delTG |
|
deletion |
Echevarria (2016) |
Hetero |
F |
|
|
|
v3.5.1 |
1076
|
607 |
4 |
c.607G>A |
E203K |
missense mutation |
Sakuraba (2018) |
Hetero |
F |
51 |
Japanese |
0.099 |
v3.5 |
1077
|
607 |
4 |
c.607G>T |
E203X |
nonsense mutation |
Azevedo (2017) |
Classic |
|
|
|
|
v3.5 |
1078
|
610 |
4 |
c.610T>C |
W204R |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.039 |
v3.5 |
1079
|
610 |
4 |
c.610T>G |
W204G |
missense mutation |
Sawada(2020) |
Classic |
M |
45 |
Japanese |
0.048 |
v3.5 |
1080
|
612 |
4 |
c.612G>C |
W204C |
missense mutation |
Lukas (2013) |
|
|
|
|
0.016 |
|
1081
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
1082
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Ashton-Prolla (2000) |
Hetero |
F |
|
|
|
|
1083
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1084
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1085
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1086
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
|
|
1087
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Tai (2012) |
|
|
|
|
|
|
1088
|
612 |
4 |
c.612G>A |
W204X |
nonsense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
|
|
1089
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
0.022 |
|
1090
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.022 |
|
1091
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Shimotori (2008) |
Hetero |
F |
40 |
Japanese |
0.022 |
|
1092
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.022 |
|
1093
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Davies (1996) |
Classic |
M |
|
British |
0.022 |
|
1094
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
0.022 |
|
1095
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.022 |
|
1096
|
613 |
4 |
c.613C>A |
P205T |
missense mutation |
Wu (2011) |
|
|
|
|
0.022 |
|
1097
|
613 |
4 |
c.613C>T |
P205S |
missense mutation |
personal communication |
Later-Onset |
M |
middle age |
Italian |
0.015 |
personal communication |
1098
|
613 |
4 |
c.613C>T |
P205S |
missense mutation |
Pan (2016) |
Later-Onset |
M |
31 |
Chinese |
0.015 |
v3.5 |
1099
|
613 |
4 |
c.613C>G |
P205A |
missense mutation |
Onay(2020) |
|
M |
|
Turkish |
0.014 |
v3.5 |
1100
|
613 |
4 |
c.613_621delCCTCTTTAT |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
|
1101
|
614 |
4 |
c.614C>G |
P205R |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.257 |
|
1102
|
614 |
4 |
c.614C>G |
P205R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.257 |
|
1103
|
614 |
4 |
c.614C>G |
P205R |
missense mutation |
Wu (2011) |
|
|
|
|
0.257 |
|
1104
|
614 |
4 |
c.614C>T |
P205L |
missense mutation |
Schafer (2005) |
|
|
|
|
0.078 |
|
1105
|
614 |
4 |
c.614delC |
|
deletion |
Colomba (2012) |
Classic |
|
|
|
|
v3.5.1 |
1106
|
616 |
4 |
c.616C>G |
L206V |
missense mutation |
Viswanathan (2017) |
|
|
|
|
0.009 |
v3.5 |
1107
|
617 |
4 |
c.617T>C |
L206P |
missense mutation |
Kim (2017) |
Classic |
M |
39 |
Korean |
0.037 |
|
1108
|
617 |
4 |
c.617T>C |
L206P |
missense mutation |
Pan X (2016) |
Classic |
male |
29 |
Chinese |
0.037 |
|
1109
|
617 |
4 |
c.617T>C |
L206P |
missense mutation |
Pan (2016) |
Classic |
M |
29 |
Chinese |
0.037 |
v3.5 |
1110
|
618 |
4 |
c.618_619delTT |
|
deletion |
Morrone (2003) |
Classic |
M |
23 |
|
|
|
1111
|
618 |
4 |
c.618_621delTTATinsAAA |
|
indel |
Shabbeer (2002) |
Classic |
|
|
|
|
|
1112
|
619 |
4 |
c.619T>C |
Y207H |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.078 |
v3.5.1 |
1113
|
620 |
4 |
c.620A>G |
Y207C |
missense mutation |
Benjamin (2009) |
Classic |
|
|
|
0.017 |
|
1114
|
620 |
4 |
c.620A>G |
Y207C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.017 |
|
1115
|
620 |
4 |
c.620A>G |
Y207C |
missense mutation |
Wu (2011) |
|
|
|
|
0.017 |
|
1116
|
620 |
4 |
c.620A>C |
Y207S |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.019 |
|
1117
|
620 |
4 |
c.620A>C |
Y207S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.019 |
|
1118
|
620 |
4 |
c.620A>C |
Y207S |
missense mutation |
Wu (2011) |
|
|
|
|
0.019 |
|
1119
|
620 |
4 |
c.620A>C |
Y207S |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.019 |
|
1120
|
621 |
4 |
c.621dupT |
|
duplication |
Auray-Blais (2008) |
|
|
|
|
|
|
1121
|
623 |
4 |
c.623T>G |
M208R |
missense mutation |
Sakuraba (2018) |
Later-Onset |
M |
56 |
Japanese |
0.034 |
v3.5 |
1122
|
625 |
4 |
c.625T>C |
W209R |
VUS? |
Sawada(2020) |
VUS? |
F |
67 |
Japanese |
0.099 |
v3.5 |
1123
|
625 |
4 |
c.625T>C |
W209R |
VUS? |
Sawada(2020) |
VUS? |
M |
11 |
Japanese |
0.099 |
v3.5.1 |
1124
|
627 |
4 |
c.627G>A |
W209X |
nonsense mutation |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
|
v3.5 |
1125
|
627 |
4 |
c.627G>T |
W209C |
missense mutation |
Nampoothiri(2020) |
Classic |
M |
39 |
Indian |
0.009 |
v3.5 |
1126
|
628 |
4 |
c.628C>T |
P210S |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.003 |
|
1127
|
628 |
4 |
c.628C>T |
P210S |
missense mutation |
Takahashi (2015) |
Hetero |
F |
42 |
|
0.003 |
|
1128
|
629 |
4 |
c.629C>T |
P210L |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.003 |
|
1129
|
634 |
4 |
c.634C>T |
Q212X |
nonsense mutation |
Kwan (2007) |
|
|
|
|
|
the full paper was not found |
1130
|
634 |
4 |
c.634C>T |
Q212X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1131
|
638 |
4 |
c.638A>T |
K213M |
missense mutation |
Lukas (2013) |
|
|
|
|
0.035 |
|
1132
|
638 |
4 |
c.638delA |
|
deletion |
Kobayashi (2019) |
Hetero |
F |
|
Japanese |
|
v3.5 |
1133
|
639 |
4 |
c.639G>T |
|
splicing defect |
Okumiya (1995)_2 |
Classic |
M |
14 |
Japanese |
|
|
1134
|
639 |
IVS4 |
c.639+1G>A |
|
splicing defect |
Rodriguez-Mari (2003) |
Classic |
M |
|
|
|
|
1135
|
639 |
IVS4 |
c.639+1G>C |
|
splicing defect |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
1136
|
639 |
IVS4 |
c.639+2T>C |
|
splicing defect |
Eng (1997) |
Classic |
|
|
|
|
|
1137
|
639 |
IVS4 |
c.639+4A>T |
|
splicing defect |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
1138
|
639 |
IVS4 |
c.639+5G>A |
|
splicing defect |
Choi (2017) |
Later-Onset |
|
|
Korean |
|
v3.5 |
1139
|
639 |
IVS4 |
c.639+861C>T |
|
splicing defect |
Filoni (2010) |
|
M |
|
|
|
v3.5.1 |
1140
|
639 |
IVS4 |
c.639+890T>C |
|
splicing defect |
Lee (2014) |
|
|
|
|
|
|
1141
|
639 |
IVS4 |
c.639+919G>A |
|
splicing defect |
Ishii (2002) |
Later-Onset |
|
|
|
|
v3.5.1 |
1142
|
639 |
IVS4 |
c.639+329_c.639+330ins113 |
|
insertion |
Higuchi (2016) |
|
|
|
Japanese |
|
v3.5.1 |
1143
|
640 |
IVS4 |
c.640-11T>A |
|
splicing defect |
Lee (2010) |
Classic |
|
|
|
|
|
1144
|
640 |
IVS4 |
c.640-3C>G |
|
splicing defect |
Kwan (2007) |
|
|
|
|
|
|
1145
|
640 |
IVS4 |
c.640-2A>T |
|
splicing defect |
Auray-Blais (2008) |
|
|
|
|
|
|
1146
|
640 |
IVS4 |
c.640-2A>T |
|
splicing defect |
Germain (1996) |
|
M |
29 |
|
|
v3.5.1 |
1147
|
640 |
IVS4 |
c.640-2A>C |
|
splicing defect |
Auray-Blais (2015) |
|
|
|
|
|
v3.5.1 |
1148
|
640 |
IVS4 |
c.640-1G>A |
|
splicing defect |
Shabbeer (2006) |
Classic |
M |
|
|
|
|
1149
|
640 |
IVS4 |
c.640-1G>C |
|
splicing defect |
Cabrera (2018) |
Classic |
M |
43 |
|
|
v3.5 |
1150
|
640 |
IVS4 |
c.640-1G>T |
|
splicing defect |
Sakuraba (2018) |
Classic |
M |
|
Japanese |
|
v3.5 |
1151
|
640 |
5 |
c.640C>T |
P214S |
missense mutation |
Okur (2013) |
|
M |
|
|
0.029 |
|
1152
|
641 |
5 |
c.641C>T |
P214L |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.082 |
v3.5 |
1153
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Davies (1993) |
Classic |
|
|
|
0.004 |
|
1154
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Ebrahim (2012) |
Later-Onset |
|
|
|
0.004 |
|
1155
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.004 |
|
1156
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Eng (1993) |
Variant |
|
|
Italian |
0.004 |
|
1157
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Guffon (1998) |
Moderate |
M |
30 |
Italian |
0.004 |
|
1158
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.004 |
|
1159
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Topaloglu (1999) |
Cardiac |
M |
|
|
0.004 |
|
1160
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Dobrovolny (2005) |
Variant |
|
|
|
0.004 |
|
1161
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Nakao (1995) |
Atypical Variant |
|
|
|
0.004 |
|
1162
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Altarescu (2001) |
Later-Onset |
|
|
|
0.004 |
|
1163
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Eng (1994)_2 |
Mild |
|
|
|
0.004 |
|
1164
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Glass (2004) |
Variant |
M |
|
|
0.004 |
|
1165
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Auray-Blais (2015) |
Atypical phenotype |
M |
Children |
|
0.004 |
|
1166
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Blaydon (2001) |
Mild |
M |
|
|
0.004 |
|
1167
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.004 |
|
1168
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Mills (2005) |
|
|
|
|
0.004 |
|
1169
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.004 |
|
1170
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Scott (2013) |
|
|
|
|
0.004 |
|
1171
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.004 |
|
1172
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Wu (2011) |
|
|
|
|
0.004 |
|
1173
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Branton (2002) |
|
|
|
|
0.004 |
|
1174
|
644 |
5 |
c.644A>G |
N215S |
missense mutation |
Erdos (2008) |
|
|
|
|
0.004 |
|
1175
|
646 |
5 |
c.646T>G |
Y216D |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.145 |
|
1176
|
646 |
5 |
c.646T>G |
Y216D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.145 |
|
1177
|
646 |
5 |
c.646T>G |
Y216D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.145 |
|
1178
|
646 |
5 |
c.646dupT |
|
duplication |
Rodriguez-Mari (2003) |
Classic |
|
|
|
|
|
1179
|
646 |
5 |
c.646delT |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
1180
|
647 |
5 |
c.647A>G |
Y216C |
missense mutation |
Filoni (2010) |
Classic |
M |
20 |
Italian |
0.005 |
|
1181
|
647 |
5 |
c.647A>G |
Y216C |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.005 |
|
1182
|
647 |
5 |
c.647A>G |
Y216C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.005 |
|
1183
|
647 |
5 |
c.647A>T |
Y216F |
missense mutation |
Jin (2017) |
|
M |
|
|
0.003 |
v3.5 |
1184
|
650 |
5 |
c.650_663dup14 |
|
duplication |
Schafer (2005) |
|
|
|
|
|
|
1185
|
656 |
5 |
c.656T>C |
I219T |
missense mutation |
Hwu (2009) |
|
|
|
Taiwanese |
0.007 |
|
1186
|
656 |
5 |
c.656T>C |
I219T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.007 |
|
1187
|
656 |
5 |
c.656T>A |
I219N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.012 |
|
1188
|
656 |
5 |
c.656_657delTCinsAT |
|
indel |
Eng (1994) |
Classic |
|
|
|
|
|
1189
|
657 |
5 |
c.657C>G |
I219M |
missense mutation |
Lukas (2016) |
|
|
|
|
0.051 |
v3.5 |
1190
|
657 |
5 |
c.657C>G |
I219M |
missense mutation |
Nampoothiri(2020) |
Later-Onset |
M |
52 |
Indian |
0.051 |
v3.5 |
1191
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Meaney (1994) |
Hetero |
F |
|
|
|
|
1192
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
1193
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Mills (2005) |
|
|
|
|
|
|
1194
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Germain (2002) |
Classic |
M |
36 |
British |
|
|
1195
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Rigoldi (2014) |
Classic |
M |
17 |
|
|
|
1196
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
1197
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Morrone (2003) |
Classic |
M |
20 |
Italian |
|
|
1198
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Shin (2007) |
|
|
|
|
|
|
1199
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1200
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Germain (1996) |
Classic |
M |
62 |
|
|
|
1201
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Mignani (2008) |
|
|
|
|
|
|
1202
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Sadick (2007) |
|
M |
42 |
|
|
|
1203
|
658 |
5 |
c.658C>T |
R220X |
nonsense mutation |
Vedder (2007) |
|
|
|
Dutch |
|
|
1204
|
659 |
5 |
c.659G>A |
R220Q |
missense mutation |
Lukas (2013) |
|
|
|
|
0.126 |
|
1205
|
659 |
5 |
c.659G>A |
R220Q |
missense mutation |
Scott (2013) |
|
|
|
|
0.126 |
|
1206
|
659 |
5 |
c.659G>A |
R220Q |
VUS? |
Varela (2020) |
VUS? |
|
|
|
0.126 |
v3.5.1 |
1207
|
659 |
5 |
c.659G>C |
R220P |
missense mutation |
Fukutomi (2013) |
Classic |
M |
57 |
Japanese |
0.146 |
|
1208
|
661 |
5 |
c.661C>T |
Q221X |
nonsense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
|
1209
|
661 |
5 |
c.661C>T |
Q221X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1210
|
661 |
5 |
c.661C>T |
Q221X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1211
|
661 |
5 |
c.661C>T |
Q221X |
nonsense mutation |
Tahir (2007) |
Hetero |
F |
18 |
|
|
|
1212
|
664 |
5 |
c.664T>G |
Y222D |
missense mutation |
Favalli (2016) |
|
|
|
|
0.029 |
v3.5 |
1213
|
664 |
5 |
c.664_672delTACTGCAAT |
|
deletion |
Vural (2017) |
|
|
|
|
|
v3.5.1 |
1214
|
666 |
5 |
c.666C>A |
Y222X |
nonsense mutation |
Yang (2003) |
Classic |
M |
23 |
Chinese |
|
|
1215
|
666 |
5 |
c.666C>A |
Y222X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1216
|
667 |
5 |
c.667T>C |
C223R |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.260 |
|
1217
|
667 |
5 |
c.667T>C |
C223R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.260 |
|
1218
|
667 |
5 |
c.667T>G |
C223G |
missense mutation |
Germain (1999) |
|
M |
|
|
0.012 |
|
1219
|
667 |
5 |
c.667T>G |
C223G |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.012 |
|
1220
|
668 |
5 |
c.668G>A |
C223Y |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.221 |
|
1221
|
668 |
5 |
c.668G>A |
C223Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.221 |
|
1222
|
668 |
5 |
c.668G>A |
C223Y |
missense mutation |
Schafer (2005) |
|
|
|
|
0.221 |
|
1223
|
668 |
5 |
c.668G>A |
C223Y |
missense mutation |
Sadick (2007) |
Hetero |
F |
50 |
|
0.221 |
|
1224
|
668 |
5 |
c.668G>T |
C223F |
missense mutation |
Sakuraba (2018) |
Hetero |
F |
72 |
Japanese |
0.224 |
v3.5 |
1225
|
668 |
5 |
c.668G>C |
C223S |
missense mutation |
Okada (2018) |
Classic |
M |
27 |
Japanese |
0.031 |
v3.5 |
1226
|
670 |
5 |
c.670A>G |
N224D |
missense mutation |
Guffon (1998) |
Classic |
M |
49 |
French |
0.057 |
|
1227
|
670 |
5 |
c.670A>G |
N224D |
missense mutation |
Guffon (2003) |
Hetero |
F |
|
|
0.057 |
|
1228
|
670 |
5 |
c.670A>G |
N224D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.057 |
|
1229
|
670 |
5 |
c.670A>G |
N224D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.057 |
|
1230
|
670 |
5 |
c.670A>G |
N224D |
missense mutation |
Germain (1999) |
Classic |
M |
19 |
|
0.057 |
|
1231
|
671 |
5 |
c.671A>G |
N224S |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.054 |
|
1232
|
671 |
5 |
c.671A>G |
N224S |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.054 |
|
1233
|
671 |
5 |
c.671A>G |
N224S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.054 |
|
1234
|
671 |
5 |
c.671A>G |
N224S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.054 |
|
1235
|
671 |
5 |
c.671A>G |
N224S |
missense mutation |
Sadick (2007) |
|
M |
21 |
|
0.054 |
|
1236
|
673 |
5 |
c.673C>G |
H225D |
missense mutation |
Lukas (2013) |
|
|
|
|
0.146 |
|
1237
|
674 |
5 |
c.674A>G |
H225R |
missense mutation |
Politei (2005) |
|
|
|
|
0.057 |
the source paper was not written in English. |
1238
|
674 |
5 |
c.674A>G |
H225R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.057 |
|
1239
|
674 |
5 |
c.674A>G |
H225R |
missense mutation |
Wu (2011) |
|
|
|
|
0.057 |
|
1240
|
674 |
5 |
c.674A>G |
H225R |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.057 |
|
1241
|
674 |
5 |
c.674_732del59 |
|
deletion |
Dobrovolny (2005) |
Classic |
|
|
|
|
v3.5.1 |
1242
|
676 |
5 |
c.676T>C |
W226R |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.032 |
|
1243
|
676 |
5 |
c.676T>C |
W226R |
missense mutation |
Wu (2011) |
|
|
|
|
0.032 |
|
1244
|
676 |
5 |
c.676T>C |
W226R |
missense mutation |
Glass (2004) |
Classic |
M |
32 |
|
0.032 |
|
1245
|
676 |
5 |
c.676T>C |
W226R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.032 |
|
1246
|
676 |
5 |
c.676T>G |
W226G |
missense mutation |
Choi (2017) |
Later-Onset |
|
|
Korean |
0.020 |
v3.5 |
1247
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Davies (1994) |
Classic |
|
|
|
|
|
1248
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1249
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1250
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Glass (2004) |
Hetero |
F |
|
|
|
|
1251
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1252
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Bouwman (2013) |
|
|
|
|
|
|
1253
|
677 |
5 |
c.677G>A |
W226X |
nonsense mutation |
Vedder (2007) |
|
|
|
Dutch |
|
|
1254
|
678 |
5 |
c.678G>T |
W226C |
missense mutation |
Rodriguez-Mari (2003) |
|
M |
|
Spanish |
0.087 |
with R227X |
1255
|
678 |
5 |
c.678delG |
|
deletion |
Cooper (2000) |
|
|
|
|
|
|
1256
|
678 |
5 |
c.678G>A |
W226X |
nonsense mutation |
Seo (2016) |
Hetero |
F |
49 |
Korean |
|
v3.5 |
1257
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Davies (1993) |
Classic |
|
|
|
|
|
1258
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
1259
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Saarinen (2015) |
Classic |
M |
|
|
|
|
1260
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Eng (1993) |
Classic |
|
|
Common; see text |
|
|
1261
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Germain (2002) |
Classic |
M |
59 |
French |
|
|
1262
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
1263
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
|
with W226R |
1264
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Rodriguez-Mari (2003) |
|
M |
|
Spanish |
|
|
1265
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Topaloglu (1999) |
Classic |
|
|
|
|
|
1266
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1267
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Guffon (2003) |
Hetero |
F |
|
|
|
|
1268
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
1269
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
Common |
|
|
1270
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
|
|
1271
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
1272
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Glass (2004) |
Hetero |
F |
|
|
|
|
1273
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1274
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Germain (1996) |
Classic |
M |
18 |
|
|
|
1275
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Tahir (2007) |
Classic |
M |
33 |
|
|
|
1276
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1277
|
679 |
5 |
c.679C>T |
R227X |
nonsense mutation |
Vedder (2007) |
|
|
|
Dutch |
|
|
1278
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Eng (1993) |
Classic |
|
|
Common; see text |
0.086 |
|
1279
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.086 |
|
1280
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Wu (2011) |
|
|
|
|
0.086 |
|
1281
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Germain (2002) |
Classic |
M |
39 |
British |
0.086 |
|
1282
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Morrone (2003) |
Classic |
M |
13 |
Italian |
0.086 |
|
1283
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.086 |
|
1284
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Common |
0.086 |
|
1285
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.086 |
|
1286
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.086 |
|
1287
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.086 |
|
1288
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Koskenvuo (2009) |
|
|
|
|
0.086 |
|
1289
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Mignani (2008) |
|
|
|
|
0.086 |
|
1290
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Rosenberg (1999) |
|
|
|
|
0.086 |
|
1291
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Laaksonen (2008) |
Hetero |
F |
46 |
|
0.086 |
|
1292
|
680 |
5 |
c.680G>A |
R227Q |
missense mutation |
Bouwman (2013) |
|
|
|
|
0.086 |
|
1293
|
680 |
5 |
c.680G>C |
R227P |
missense mutation |
Ferri (2018) |
Classic |
M |
38 |
|
0.185 |
v3.5 |
1294
|
682 |
5 |
c.682A>C |
N228H |
missense mutation |
Vanga(2020) |
Later-Onset |
M |
69 |
|
0.062 |
v3.5 |
1295
|
683 |
5 |
c.683A>G |
N228S |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.044 |
v3.5 |
1296
|
683 |
5 |
c.683A>G |
N228S |
VUS? |
Varela (2020) |
VUS? |
|
|
|
0.044 |
v3.5.1 |
1297
|
683 |
5 |
c.683dupA |
|
duplication |
Nampoothiri(2020) |
Classic |
M |
16 |
Indian |
|
v3.5 |
1298
|
685 |
5 |
c.685T>G |
F229V |
missense mutation |
Turkmen(2016) |
Later-Onset |
M |
70 |
|
0.024 |
v3.5 |
1299
|
685 |
5 |
c.685T>G |
F229V |
VUS? |
Sawada (2020) |
VUS? |
F |
|
Japanese |
0.024 |
v3.5.1 |
1300
|
687 |
5 |
c.687T>G |
F229L |
missense mutation |
Kawano (2007) |
Variant |
M |
60 |
|
0.031 |
|
1301
|
688 |
5 |
c.688G>A |
A230T |
missense mutation |
Ashton-Prolla (2000) |
Hetero |
F |
|
|
0.003 |
|
1302
|
688 |
5 |
c.688G>A |
A230T |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.003 |
|
1303
|
688 |
5 |
c.688G>A |
A230T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.003 |
|
1304
|
691 |
5 |
c.691G>A |
D231N |
missense mutation |
Redonnet-Vernhet (1996) |
Classic |
M |
|
|
0.037 |
|
1305
|
691 |
5 |
c.691G>A |
D231N |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.037 |
|
1306
|
691 |
5 |
c.691G>A |
D231N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.037 |
|
1307
|
691 |
5 |
c.691_693delGACinsTAT |
D231Y |
indel |
Sawada(2020) |
Hetero |
F |
68 |
Japanese |
0.046 |
v3.5 |
1308
|
692 |
5 |
c.692A>G |
D231G |
missense mutation |
Park (2009) |
Classic |
|
|
Korean |
0.045 |
|
1309
|
692 |
5 |
c.692A>G |
D231G |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.045 |
|
1310
|
692 |
5 |
c.692A>G |
D231G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.045 |
|
1311
|
692 |
5 |
c.692A>G |
D231G |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.045 |
|
1312
|
692 |
5 |
c.692A>T |
D231V |
missense mutation |
Shimotori (2008) |
Classic |
M |
3 |
Japanese |
0.041 |
|
1313
|
692 |
5 |
c.692A>T |
D231V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.041 |
|
1314
|
695 |
5 |
c.695T>C |
I232T |
missense mutation |
Tai (2012) |
|
|
|
|
0.081 |
|
1315
|
695 |
5 |
c.695T>C |
I232T |
missense mutation |
Adalsteinsdottir (2014) |
|
|
|
|
0.081 |
|
1316
|
695 |
5 |
c.695T>C |
I232T |
missense mutation |
Liao (2015) |
suggest Fabry disease |
|
newborn |
Taiwanese |
0.081 |
|
1317
|
695 |
5 |
c.695T>C |
I232T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.081 |
|
1318
|
695 |
5 |
c.695T>C |
I232T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.081 |
|
1319
|
700 |
5 |
c.700G>T |
D234Y |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.270 |
|
1320
|
700 |
5 |
c.700G>T |
D234Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.270 |
|
1321
|
702 |
5 |
c.702T>G |
D234E |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.043 |
|
1322
|
702 |
5 |
c.702T>G |
D234E |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.043 |
|
1323
|
702 |
5 |
c.702T>G |
D234E |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.043 |
|
1324
|
704 |
5 |
c.704C>G |
S235C |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.004 |
|
1325
|
704 |
5 |
c.704C>G |
S235C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.004 |
|
1326
|
704 |
5 |
c.704C>G |
S235C |
missense mutation |
Wu (2011) |
|
|
|
|
0.004 |
|
1327
|
704 |
5 |
c.704C>G |
S235C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.004 |
|
1328
|
704 |
5 |
c.704C>T |
S235F |
missense mutation |
Shimotori (2008) |
Classic |
M |
14 |
Japanese |
0.004 |
|
1329
|
704 |
5 |
c.704C>T |
S235F |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.004 |
|
1330
|
704 |
5 |
c.704C>A |
S235Y |
missense mutation |
Nowak (2018) |
Hetero |
F |
29 |
|
0.004 |
v3.5 |
1331
|
706 |
5 |
c.706T>C |
W236R |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.025 |
|
1332
|
706 |
5 |
c.706T>C |
W236R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.025 |
|
1333
|
706 |
5 |
c.706T>C |
W236R |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.025 |
|
1334
|
707 |
5 |
c.707G>T |
W236L |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.005 |
|
1335
|
707 |
5 |
c.707G>T |
W236L |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.005 |
|
1336
|
707 |
5 |
c.707G>T |
W236L |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.005 |
|
1337
|
707 |
5 |
c.707G>A |
W236X |
nonsense mutation |
Germain (2002) |
Classic |
M |
32 |
British |
|
|
1338
|
707 |
5 |
c.707G>A |
W236X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1339
|
707 |
5 |
c.707G>A |
W236X |
nonsense mutation |
Tahir (2007) |
Classic |
M |
33 |
|
|
|
1340
|
707 |
5 |
c.707G>A |
W236X |
nonsense mutation |
Zhang (2007) |
|
|
|
|
|
|
1341
|
708 |
5 |
c.708G>C |
W236C |
missense mutation |
Davies (1996) |
Hetero |
F |
|
German |
0.012 |
|
1342
|
708 |
5 |
c.708G>C |
W236C |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.012 |
|
1343
|
708 |
5 |
c.708G>C |
W236C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.012 |
|
1344
|
708 |
5 |
c.708G>C |
W236C |
missense mutation |
Morrone (2003) |
Classic |
M |
10 |
Italian |
0.012 |
|
1345
|
708 |
5 |
c.708G>C |
W236C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.012 |
|
1346
|
708 |
5 |
c.708_709delGAinsAT |
|
indel |
Pan (2016) |
Classic |
M |
31 |
Chinese |
|
v3.5.1 |
1347
|
709 |
5 |
c.709A>T |
K237X |
nonsense mutation |
Turaca (2012) |
Hetero |
F |
|
Brazilian |
|
|
1348
|
713 |
5 |
c.713G>A |
S238N |
missense mutation |
Monserrat (2007) |
Later-Onset |
M |
46 |
|
0.045 |
|
1349
|
713 |
5 |
c.713G>A |
S238N |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.045 |
|
1350
|
714 |
5 |
c.714T>A |
S238R |
VUS? |
Sawada(2020) |
VUS? |
M |
12 |
Japanese |
0.188 |
v3.5 |
1351
|
716 |
5 |
c.716T>C |
I239T |
missense mutation |
Kotanko (2004) |
Classic |
M |
29 |
Austrian |
0.107 |
|
1352
|
716 |
5 |
c.716dupT |
|
duplication |
Cooper (2000) |
|
|
|
|
|
|
1353
|
716 |
5 |
c.716_718delTAA |
|
deletion |
Valbuena (2008) |
Hetero |
F |
50 |
|
|
v3.5.1 |
1354
|
717 |
5 |
c.717A>G |
I239M |
missense mutation |
Csányi (2017) |
Later-Onset |
M |
49 |
Hungarian |
0.075 |
v3.5 |
1355
|
718 |
5 |
c.718 |
K240X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
1356
|
718 |
5 |
c.718 |
K240X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1357
|
718 |
5 |
c.718_719delAA |
|
deletion |
Davies (1994) |
Classic |
|
|
|
|
|
1358
|
719 |
5 |
c.719delA |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
1359
|
719 |
5 |
c.719dupA |
|
duplication |
Davies (1993) |
Classic |
|
|
|
|
|
1360
|
722 |
5 |
c.722delG |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
1361
|
723 |
5 |
c.723dupT |
|
duplication |
Burlina (2008) |
|
M |
40 |
|
|
|
1362
|
724 |
5 |
c.724A>T |
I242F |
missense mutation |
Kwan (2007) |
|
|
|
|
0.085 |
the full paper was not found |
1363
|
724 |
5 |
c.724A>G |
I242V |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.003 |
v3.5 |
1364
|
725 |
5 |
c.725T>A |
I242N |
missense mutation |
Takata (1997) |
Classic |
M |
18 |
Japanese |
0.033 |
|
1365
|
725 |
5 |
c.725T>A |
I242N |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.033 |
|
1366
|
725 |
5 |
c.725T>A |
I242N |
missense mutation |
Utsumi (2009) |
Classic |
M |
19 |
Japanese |
0.033 |
|
1367
|
725 |
5 |
c.725T>A |
I242N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.033 |
|
1368
|
725 |
5 |
c.725T>C |
I242T |
missense mutation |
Sakuraba (2018) |
Hetero |
F |
17 |
Japanese |
0.004 |
v3.5 |
1369
|
725 |
5 |
c.725T>C |
I242T |
VUS? |
Sawada (2020) |
VUS? |
M |
8 |
Japanese |
0.004 |
v3.5.1 |
1370
|
728 |
5 |
c.728T>A |
L243X |
nonsense mutation |
Bouwman (2013) |
|
|
|
|
|
|
1371
|
728 |
5 |
c.728T>G |
L243W |
missense mutation |
Rozenfeld (2006) |
Classic |
M |
35 |
Argentina |
0.061 |
|
1372
|
729 |
5 |
c.729G>C |
L243F |
missense mutation |
Germain (2002) |
Classic |
M |
37 |
French |
0.013 |
|
1373
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Eng (1994) |
Classic |
|
|
French Canadian |
0.037 |
|
1374
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.037 |
|
1375
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.037 |
|
1376
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.037 |
|
1377
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.037 |
|
1378
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.037 |
|
1379
|
730 |
5 |
c.730G>A |
D244N |
missense mutation |
Wu (2011) |
|
|
|
|
0.037 |
|
1380
|
730 |
5 |
c.730G>C |
D244H |
missense mutation |
Topaloglu (1999) |
Hetero |
F |
|
|
0.122 |
|
1381
|
730 |
5 |
c.730G>C |
D244H |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.122 |
|
1382
|
730 |
5 |
c.730G>C |
D244H |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.122 |
|
1383
|
730 |
5 |
c.730G>C |
D244H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.122 |
|
1384
|
732 |
5 |
c.732delC |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
1385
|
733 |
5 |
c.733delT |
|
deletion |
Sakuraba (2018) |
Hetero |
F |
13 |
Japanese |
|
v3.5 |
1386
|
734 |
5 |
c.734_742dupGGACATCTT |
|
duplication |
Guffon (1998) |
Classic |
M |
21 |
French |
|
|
1387
|
735 |
5 |
c.735G>A |
W245X |
nonsense mutation |
Germain (2002) |
Classic |
M |
50 |
French |
|
|
1388
|
735 |
5 |
c.735G>A |
W245X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1389
|
735 |
5 |
c.735G>A |
W245X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1390
|
735 |
5 |
c.735G>A |
W245X |
nonsense mutation |
Liu (2006) |
|
|
|
|
|
the source paper was not written in English. |
1391
|
735 |
5 |
c.735G>A |
W245X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1392
|
739 |
5 |
c.739T>C |
S247P |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.041 |
|
1393
|
739 |
5 |
c.739T>C |
S247P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.041 |
|
1394
|
740 |
5 |
c.740C>G |
S247C |
missense mutation |
Germain (2002) |
Variant |
M |
64 |
French |
0.004 |
|
1395
|
742 |
5 |
c.742 |
S248X |
nonsense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
|
S148? F248. |
1396
|
743 |
5 |
c.743_744delTT |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
1397
|
744 |
5 |
c.744delT |
|
deletion |
Maier (2006) |
Hetero |
F |
3 |
|
|
v3.5.1 |
1398
|
744 |
5 |
c.744_745delTA |
|
deletion |
Schafer (2005) |
|
|
|
|
|
|
1399
|
746 |
5 |
c.746_747delAC |
|
deletion |
Erdos (2008) |
Classic |
M |
30 |
Hungarian |
|
|
1400
|
747 |
5 |
c.747C>A |
N249K |
missense mutation |
Duro (2014) |
Classic |
M |
54 |
|
0.121 |
|
1401
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Ashley (2001) |
Classic |
M |
|
|
|
|
1402
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1403
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Germain (2002) |
Classic |
M |
53 |
French |
|
|
1404
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
1405
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
1406
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1407
|
748 |
5 |
c.748C>T |
Q250X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1408
|
749 |
5 |
c.749A>C |
Q250P |
missense mutation |
Nagasaki (2008) |
Classic |
M |
27 |
Japanese |
0.064 |
|
1409
|
749 |
5 |
c.749A>C |
Q250P |
missense mutation |
Tsuboi (2012) |
|
|
|
Japanese |
0.064 |
|
1410
|
751 |
5 |
c.751G>T |
E251X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
1411
|
751 |
5 |
c.751G>T |
E251X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1412
|
751 |
5 |
c.751G>T |
E251X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1413
|
755 |
5 |
c.755G>C |
R252T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.036 |
|
1414
|
758 |
5 |
c.758T>G |
I253S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.019 |
|
1415
|
758 |
5 |
c.758T>C |
I253T |
missense mutation |
Scott (2013) |
|
|
|
|
0.026 |
|
1416
|
759 |
5 |
c.759delT |
|
deletion |
Nagasaki (2008) |
|
|
|
|
|
|
1417
|
760 |
5 |
c.760dupG |
|
duplication |
Schafer (2005) |
|
|
|
|
|
|
1418
|
761 |
5 |
c.761T>C |
V254A |
missense mutation |
Lukas (2016) |
|
F |
|
|
0.045 |
v3.5 |
1419
|
761 |
5 |
c.761_762delTT |
|
deletion |
Sirrs (2010) |
|
|
|
|
|
|
1420
|
761 |
5 |
c.761_763delTTG |
|
deletion |
Sawada(2020) |
Classic |
M |
45 |
Japanese |
|
v3.5 |
1421
|
764 |
5 |
c.764_766delATG |
|
deletion |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
|
v3.5.1 |
1422
|
769 |
5 |
c.769G>C |
A257P |
missense mutation |
Cooper (2000) |
|
|
|
|
0.044 |
the full paper was not found |
1423
|
770 |
5 |
c.770C>T |
A257V |
missense mutation |
Echevarria (2016) |
|
F |
|
|
0.058 |
v3.5 |
1424
|
770 |
5 |
c.770C>A |
A257D |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.094 |
v3.5.1 |
1425
|
770 |
5 |
c.770C>G |
A257G |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.003 |
v3.5.1 |
1426
|
772 |
5 |
c.772G>C |
G258R |
missense mutation |
Blaydon (2001) |
Hetero |
F |
|
European |
0.101 |
|
1427
|
772 |
5 |
c.772G>C |
G258R |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.101 |
|
1428
|
772 |
5 |
c.772G>C |
G258R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.101 |
|
1429
|
772 |
5 |
c.772G>T |
G258X |
nonsense mutation |
Sakuraba (2018) |
Classic |
M |
31 |
Japanese |
|
v3.5 |
1430
|
773 |
5 |
c.773G>T |
G258V |
missense mutation |
Shimotori (2008) |
Classic |
M |
|
Japanese |
0.086 |
|
1431
|
773 |
5 |
c.773G>T |
G258V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.086 |
|
1432
|
774 |
5 |
c.774_775delAC |
|
deletion |
Eng (1993) |
Classic |
|
|
|
|
|
1433
|
775 |
5 |
c.775C>T |
P259S |
missense mutation |
Han-Gil Jeong (2018) |
Hetero |
F |
43 |
Korean |
0.027 |
Level of Lyso-GB3: 4.9 ng/ml (reference, ≦ 1.8ng/ml. )Level of agalsidase enzyme activity: 14.2 nmol/hr/mg protein (normal range 35-100). |
1434
|
775 |
5 |
c.775C>T |
P259S |
missense mutation |
Han-Gil Jeong (2018) |
Hetero |
F |
21 |
Korean |
0.027 |
Diagnosed date: Feb 2017; Presenting symptoms: Tinnitus; Level of Lyso-GB3: unchecked; Level of agalsidase enzyme activity: 20.2 nmol/hr/mg protein (normal range 35-100) |
1435
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.157 |
|
1436
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Pasqualim (2014) |
|
F |
|
|
0.157 |
|
1437
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Wu (2011) |
|
|
|
|
0.157 |
|
1438
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.157 |
|
1439
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.157 |
|
1440
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Blaydon (2001) |
Classic |
M |
|
|
0.157 |
|
1441
|
776 |
5 |
c.776C>G |
P259R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.157 |
|
1442
|
776 |
5 |
c.776C>T |
P259L |
missense mutation |
Topaloglu (1999) |
Cardiac |
M |
|
|
0.030 |
|
1443
|
776 |
5 |
c.776C>T |
P259L |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.030 |
|
1444
|
776 |
5 |
c.776delC |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
1445
|
777 |
5 |
c.777delA |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
|
1446
|
778 |
5 |
c.778G>A |
G260R |
missense mutation |
Echevarria (2016) |
Hetero |
F |
|
|
0.178 |
v3.5 |
1447
|
779 |
5 |
c.779G>C |
G260A |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.009 |
|
1448
|
779 |
5 |
c.779G>C |
G260A |
missense mutation |
Shimotori (2008) |
Classic |
M |
7 |
Japanese |
0.009 |
|
1449
|
779 |
5 |
c.779G>C |
G260A |
missense mutation |
Takata (1997) |
Classic |
|
|
|
0.009 |
|
1450
|
779 |
5 |
c.779G>C |
G260A |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.009 |
|
1451
|
779 |
5 |
c.779G>A |
G260E |
missense mutation |
Mignani (2008) |
|
M |
19 |
|
0.110 |
|
1452
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Takata (1997) |
Classic |
|
|
Japanese |
0.204 |
|
1453
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.204 |
|
1454
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.204 |
|
1455
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.204 |
|
1456
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.204 |
|
1457
|
782 |
5 |
c.782G>A |
G261D |
missense mutation |
Branton (2002) |
|
|
|
|
0.204 |
|
1458
|
782 |
5 |
c.782G>T |
G261V |
missense mutation |
Lukas (2013) |
|
|
|
|
0.149 |
|
1459
|
782 |
5 |
c.782dupG |
|
duplication |
Germain (2002) |
Classic |
M |
29 |
French |
|
|
1460
|
782 |
5 |
c.782delG |
|
deletion |
Nampoothiri(2020) |
Classic |
M |
36 |
Indian |
|
v3.5 |
1461
|
784 |
5 |
c.784T>C |
W262R |
missense mutation |
Lukas (2016) |
|
F |
|
|
0.093 |
v3.5 |
1462
|
785 |
5 |
c.785G>A |
W262X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1463
|
785 |
5 |
c.785G>A |
W262X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1464
|
785 |
5 |
c.785G>A |
W262X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1465
|
785 |
5 |
c.785G>A |
W262X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1466
|
785 |
5 |
c.785G>T |
W262L |
missense mutation |
Baptista (2015) |
|
F |
49 |
|
0.030 |
v3.5 |
1467
|
786 |
5 |
c.786G>C |
W262C |
missense mutation |
Schafer (2005) |
|
|
|
|
0.030 |
|
1468
|
786 |
5 |
c.786G>C |
W262C |
missense mutation |
Lukas (2013) |
Classic/Later-Onset |
|
|
|
0.030 |
|
1469
|
786 |
5 |
c.786delG |
|
deletion |
Moiseev (2019) |
Classic |
M |
31 |
Russian |
|
v3.5 |
1470
|
788 |
5 |
c.788A>G |
N263S |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.040 |
|
1471
|
788 |
5 |
c.788A>G |
N263S |
missense mutation |
Wu (2011) |
|
|
|
|
0.040 |
|
1472
|
788 |
5 |
c.788A>G |
N263S |
missense mutation |
Glass (2004) |
Classic |
M |
41 |
|
0.040 |
|
1473
|
788 |
5 |
c.788A>G |
N263S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.040 |
|
1474
|
790 |
5 |
c.790G>A |
D264N |
missense mutation |
Lukas (2013) |
|
|
|
|
0.198 |
|
1475
|
790 |
5 |
c.790G>C |
D264H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.177 |
|
1476
|
790 |
5 |
c.790G>T |
D264Y |
missense mutation |
Shabbeer (2005) |
Classic |
M |
|
|
0.087 |
|
1477
|
790 |
5 |
c.790G>T |
D264Y |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.087 |
with V269M. |
1478
|
790 |
5 |
c.790G>T |
D264Y |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.087 |
|
1479
|
790 |
5 |
c.790G>T |
D264Y |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.087 |
|
1480
|
790 |
5 |
c.790G>T |
D264Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.087 |
|
1481
|
791 |
5 |
c.791A>C |
D264A |
missense mutation |
Lukas (2013) |
|
|
|
|
0.187 |
|
1482
|
791 |
5 |
c.791A>G |
D264G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.222 |
|
1483
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Eng (1993) |
Classic |
|
|
Scottish/Irish |
0.097 |
|
1484
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.097 |
|
1485
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.097 |
|
1486
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Scottish/English |
0.097 |
|
1487
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.097 |
|
1488
|
791 |
5 |
c.791A>T |
D264V |
missense mutation |
Wu (2011) |
|
|
|
|
0.097 |
|
1489
|
792 |
5 |
c.792C> |
D264E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.056 |
|
1490
|
793 |
5 |
c.793C>T |
P265S |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.037 |
v3.5.1 |
1491
|
793 |
5 |
c.793_809del17ins28 |
|
indel |
Pan (2016) |
Classic |
M |
30 |
|
|
v3.5.1 |
1492
|
794 |
5 |
c.794C>G |
P265R |
missense mutation |
Germain (1996) |
Hetero |
F |
30 |
|
0.162 |
|
1493
|
794 |
5 |
c.794C>G |
P265R |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.162 |
|
1494
|
794 |
5 |
c.794C>G |
P265R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.162 |
|
1495
|
794 |
5 |
c.794C>T |
P265L |
missense mutation |
Schafer (2005) |
|
|
|
|
0.173 |
|
1496
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Lee (2000) |
Classic |
M |
16 |
Korean |
0.059 |
|
1497
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.059 |
|
1498
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Park (2009) |
Classic |
|
|
|
0.059 |
|
1499
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.059 |
|
1500
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.059 |
|
1501
|
796 |
5 |
c.796G>A |
D266N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.059 |
|
1502
|
796 |
5 |
c.796G>C |
D266H |
missense mutation |
Ashton-Prolla (2000) |
Hetero |
F |
|
|
0.199 |
|
1503
|
796 |
5 |
c.796G>C |
D266H |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.199 |
|
1504
|
796 |
5 |
c.796G>C |
D266H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.199 |
|
1505
|
796 |
5 |
c.796G>T |
D266Y |
missense mutation |
Erdos (2008) |
Classic |
M |
31 |
Hungarian |
0.047 |
|
1506
|
796 |
5 |
c.796G>T |
D266Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.047 |
|
1507
|
797 |
5 |
c.797A>C |
D266A |
missense mutation |
Tian (2013) |
|
|
|
|
0.024 |
the source paper was not written in English. |
1508
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Eng (1993) |
Classic |
|
|
African-American |
0.039 |
|
1509
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.039 |
|
1510
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.039 |
|
1511
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
|
0.039 |
|
1512
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.039 |
|
1513
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.039 |
|
1514
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.039 |
|
1515
|
797 |
5 |
c.797A>T |
D266V |
missense mutation |
Wu (2011) |
|
|
|
|
0.039 |
|
1516
|
797 |
5 |
c.797A>G |
D266G |
missense mutation |
Nampoothiri(2020) |
Classic |
M |
33 |
Indian |
0.030 |
v3.5 |
1517
|
798 |
5 |
c.798T>A |
D266E |
missense mutation |
Germain (2002) |
Severe Classic |
M |
31 |
French |
0.061 |
|
1518
|
798 |
5 |
c.798T>A |
D266E |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.061 |
|
1519
|
800 |
5 |
c.800T>G |
M267R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.097 |
|
1520
|
800 |
5 |
c.800T>C |
M267T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.067 |
|
1521
|
801 |
5 |
c.801G>A |
M267I |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.095 |
|
1522
|
801 |
5 |
c.801G>A |
M267I |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.095 |
|
1523
|
801 |
5 |
c.801G>A |
M267I |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.095 |
|
1524
|
801 |
5 |
c.801G>A |
M267I |
missense mutation |
Blaydon (2001) |
Classic |
|
|
|
0.095 |
|
1525
|
801 |
5 |
c.801G>A |
M267I |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.095 |
|
1526
|
801 |
IVS5 |
c.801+1G>A |
|
splicing defect |
Li (2019) |
|
M |
|
Chinese |
|
v3.5 |
1527
|
801 |
IVS5 |
c.801+1G>T |
|
splicing defect |
Spada (2006) |
|
|
|
|
|
v3.5.1 |
1528
|
801 |
IVS5 |
c.801+2T>C |
|
splicing defect |
Blaydon (2001) |
Classic |
M |
|
|
|
|
1529
|
801 |
IVS5 |
c.801+2_801+3insT |
|
splicing defect |
Varela(2019) |
Classic |
M |
46 |
Brazilian |
|
v3.5 |
1530
|
801 |
IVS5 |
c.801+3A>G |
|
splicing defect |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1531
|
801 |
IVS5 |
c.801+4A>G |
|
splicing defect |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1532
|
801 |
IVS5 |
c.801+5G>A |
|
splicing defect |
Yoo (2012) |
|
|
|
Korean |
|
v3.5.1 the source paper was not written in English. |
1533
|
802 |
IVS5 |
c.802-3_802-2delCA |
|
deletion |
Eng (1993) |
Classic |
|
|
|
|
|
1534
|
802 |
IVS5 |
c.802-2A>G |
|
splicing defect |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1535
|
802 |
IVS5 |
c.802-1G>C |
|
splicing defect |
Sakuraba (2018) |
Classic |
M |
59 |
Japanese |
|
v3.5 |
1536
|
802 |
IVS5 |
c.802-1G>T |
|
splicing defect |
Watanabe (2013) |
Later-Onset |
M |
58 |
Japanese |
|
v3.5.1 |
1537
|
803 |
6 |
c.803T>C |
L268S |
missense mutation |
Schafer (2005) |
|
|
|
|
0.024 |
|
1538
|
803 |
6 |
c.803T>C |
L268S |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.024 |
|
1539
|
803 |
6 |
c.803T>C |
L268S |
missense mutation |
Bouwman (2013) |
|
|
|
|
0.024 |
|
1540
|
803 |
6 |
c.803delT |
|
deletion |
Lukas (2013) |
|
|
|
|
|
|
1541
|
803 |
6 |
c.803_806delTAGT |
|
deletion |
Lee (2000) |
Classic |
M |
19 |
|
|
|
1542
|
803 |
6 |
c.803_806delTAGT |
|
deletion |
Park (2009) |
|
|
|
Korean |
|
|
1543
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.104 |
with D264Y. |
1544
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.104 |
|
1545
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.104 |
|
1546
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.104 |
|
1547
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Mignani (2008) |
|
|
|
|
0.104 |
|
1548
|
805 |
6 |
c.805G>A |
V269M |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.104 |
|
1549
|
805 |
6 |
c.805G>C |
V269L |
missense mutation |
Ceron-Rodriguez (2019) |
Classic |
M |
2 |
Mexican |
0.055 |
v3.5 |
1550
|
806 |
6 |
c.806T>C |
V269A |
missense mutation |
Davies (1993) |
Classic |
|
|
|
0.029 |
|
1551
|
806 |
6 |
c.806T>C |
V269A |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.029 |
|
1552
|
806 |
6 |
c.806T>C |
V269A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.029 |
|
1553
|
806 |
6 |
c.806T>C |
V269A |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
English |
0.029 |
|
1554
|
806 |
6 |
c.806T>C |
V269A |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.029 |
|
1555
|
806 |
6 |
c.806T>G |
V269G |
missense mutation |
Uribe (2015) |
Classic |
|
|
Colombian |
0.037 |
v3.5 |
1556
|
807 |
6 |
c.807delG |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
1557
|
809 |
6 |
c.809T>C |
I270T |
missense mutation |
Schafer (2005) |
|
|
|
|
0.037 |
|
1558
|
809 |
6 |
c.809T>C |
I270T |
missense mutation |
Tsuboi (2012) |
|
M |
36 |
Japanese |
0.037 |
|
1559
|
810 |
6 |
c.810T>G |
I270M |
missense mutation |
Lukas (2013) |
|
|
|
|
0.048 |
|
1560
|
811 |
6 |
c.811G>T |
G271C |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.066 |
|
1561
|
811 |
6 |
c.811G>T |
G271C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.066 |
|
1562
|
811 |
6 |
c.811G>T |
G271C |
missense mutation |
Wu (2011) |
|
|
|
|
0.066 |
|
1563
|
811 |
6 |
c.811G>T |
G271C |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.066 |
|
1564
|
811 |
6 |
c.811G>A |
G271S |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.057 |
|
1565
|
811 |
6 |
c.811G>A |
G271S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.057 |
|
1566
|
811 |
6 |
c.811G>A |
G271S |
missense mutation |
Havndrup (2010) |
Hetero |
F |
38 |
|
0.057 |
|
1567
|
812 |
6 |
c.812G>T |
G271V |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.149 |
|
1568
|
812 |
6 |
c.812G>T |
G271V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.149 |
|
1569
|
812 |
6 |
c.812G>T |
G271V |
missense mutation |
Wu (2011) |
|
|
|
|
0.149 |
|
1570
|
812 |
6 |
c.812G>C |
G271A |
missense mutation |
Rosa Neto (2014) |
Classic |
M |
15 |
Brazilian |
0.048 |
|
1571
|
812 |
6 |
c.812G>A |
G271D |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.128 |
v3.5.1 |
1572
|
815 |
6 |
c.815A>G |
N272S |
missense mutation |
Verovnik (2004) |
Classic |
M |
45 |
Slovenian |
0.013 |
|
1573
|
815 |
6 |
c.815A>G |
N272S |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.013 |
|
1574
|
815 |
6 |
c.815A>T |
N272I |
missense mutation |
Ferri (2018) |
|
F |
|
|
0.029 |
v3.5 |
1575
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Eng (1994) |
Classic |
|
|
Polish |
0.065 |
|
1576
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.065 |
|
1577
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Wu (2011) |
|
|
|
|
0.065 |
|
1578
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.065 |
|
1579
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.065 |
|
1580
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.065 |
|
1581
|
816 |
6 |
c.816C>A |
N272K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.065 |
|
1582
|
818 |
6 |
c.818T>C |
F273S |
missense mutation |
Favalli (2016) |
|
|
|
|
0.003 |
v3.5 |
1583
|
819 |
6 |
c.819T>A |
F273L |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.003 |
|
1584
|
819 |
6 |
c.819T>A |
F273L |
missense mutation |
Zhang (2007) |
Later-Onset |
|
|
Chinese |
0.003 |
|
1585
|
820 |
6 |
c.820G>A |
G274S |
missense mutation |
Mignani (2008) |
Hetero |
F |
61 |
|
0.015 |
|
1586
|
820 |
6 |
c.820G>C |
G274R |
missense mutation |
Choi (2017) |
Classic |
|
|
Korean |
0.048 |
v3.5 |
1587
|
821 |
6 |
c.821G>T |
G274V |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.022 |
v3.5.1 |
1588
|
823 |
6 |
c.823C>T |
L275F |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
0.069 |
the full paper was not found |
1589
|
823 |
6 |
c.823C>T |
L275F |
missense mutation |
Lukas (2013) |
Classic/Later-Onset |
|
|
|
0.069 |
|
1590
|
823 |
6 |
c.823C>T |
L275F |
missense mutation |
Okur (2013) |
|
M |
|
|
0.069 |
|
1591
|
824 |
6 |
c.824T>A |
L275H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.059 |
|
1592
|
825 |
6 |
c.825delC |
|
deletion |
Sawada(2020) |
Hetero |
F |
59 |
Japanese |
|
v3.5 |
1593
|
826 |
6 |
c.826A>G |
S276G |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.005 |
|
1594
|
826 |
6 |
c.826A>G |
S276G |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.005 |
|
1595
|
826 |
6 |
c.826A>G |
S276G |
missense mutation |
Wu (2011) |
|
|
|
|
0.005 |
|
1596
|
826 |
6 |
c.826A>G |
S276G |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.005 |
|
1597
|
827 |
6 |
c.827G>A |
S276N |
missense mutation |
Schafer (2005) |
|
|
|
|
0.013 |
|
1598
|
827 |
6 |
c.827G>C |
S276T |
missense mutation |
Sawada(2020) |
Classic |
M |
12 |
Japanese |
0.009 |
v3.5 |
1599
|
829 |
6 |
c.829T>G |
W277G |
missense mutation |
Walsh (2017) |
|
|
|
|
0.003 |
v3.5 |
1600
|
830 |
6 |
c.830G>A |
W277X |
nonsense mutation |
Topaloglu (1999) |
Classic |
|
|
|
|
|
1601
|
830 |
6 |
c.830G>A |
W277X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1602
|
830 |
6 |
c.830G>A |
W277X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
1603
|
830 |
6 |
c.830G>A |
W277X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1604
|
830 |
6 |
c.830G>A |
W277X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1605
|
831 |
6 |
c.831G>C |
W277C |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.003 |
v3.5.1 |
1606
|
833 |
6 |
c.833dupA |
|
duplication |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
1607
|
833 |
6 |
c.833delA |
|
deletion |
Yoshimitsu (2011) |
Classic |
M |
25 |
Japanese |
|
v3.5.1 |
1608
|
834 |
6 |
c.834T>A |
N278K |
missense mutation |
Zhou (2018) |
Classic |
M |
65 |
Chinese |
0.042 |
v3.5 |
1609
|
834 |
6 |
c.834delT |
|
deletion |
Namazova-Baranova (2017) |
|
|
|
|
|
v3.5.1 |
1610
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Ishii (1992) |
Atypical Variant |
M |
60 |
Japanese |
0.035 |
|
1611
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Ebrahim (2012) |
Later-Onset |
|
|
|
0.035 |
|
1612
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.035 |
|
1613
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.035 |
|
1614
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Okumiya (1995) |
Later-Onset |
M |
|
Japanese |
0.035 |
|
1615
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Nakao (1995) |
Atypical Variant |
|
|
|
0.035 |
|
1616
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Eng (1994)_2 |
Mild |
|
|
Japanese |
0.035 |
|
1617
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Takata (1997) |
Variant |
|
|
|
0.035 |
|
1618
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.035 |
|
1619
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Wu (2011) |
|
|
|
|
0.035 |
|
1620
|
835 |
6 |
c.835C>G |
Q279E |
missense mutation |
Ishii (2012) |
|
|
|
|
0.035 |
|
1621
|
835 |
6 |
c.835C>A |
Q279K |
missense mutation |
Burlina (2008) |
|
M |
42 |
|
0.034 |
|
1622
|
835 |
6 |
c.835C>T |
Q279X |
nonsense mutation |
Koulousios (2017) |
Classic |
M |
31 |
Greek |
|
v3.5 |
1623
|
836 |
6 |
c.836A>G |
Q279R |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
F |
|
Spanish |
0.061 |
homo |
1624
|
836 |
6 |
c.836A>G |
Q279R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.061 |
|
1625
|
837 |
6 |
c.837G>C |
Q279H |
missense mutation |
Blaydon (2001) |
Classic |
|
|
European |
0.094 |
|
1626
|
837 |
6 |
c.837G>C |
Q279H |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.094 |
|
1627
|
837 |
6 |
c.837G>C |
Q279H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.094 |
|
1628
|
837 |
6 |
c.837G>C |
Q279H |
missense mutation |
Burlina (2008) |
|
M |
46 |
|
0.094 |
|
1629
|
837 |
6 |
c.837G>C |
Q279H |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.094 |
|
1630
|
838 |
6 |
c.838C>A |
Q280K |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
Czech and Slovak |
0.040 |
|
1631
|
838 |
6 |
c.838C>A |
Q280K |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.040 |
|
1632
|
838 |
6 |
c.838C>A |
Q280K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.040 |
|
1633
|
838 |
6 |
c.838C>T |
Q280X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1634
|
840 |
6 |
c.840A>T |
Q280H |
missense mutation |
Blaydon (2001) |
Hetero |
F |
|
European |
0.079 |
|
1635
|
840 |
6 |
c.840A>T |
Q280H |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.079 |
|
1636
|
840 |
6 |
c.840A>T |
Q280H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.079 |
|
1637
|
840 |
6 |
c.840A>C |
Q280H |
missense mutation |
Kobayashi (2019) |
Hetero |
F |
|
Japanese |
0.079 |
v3.5 |
1638
|
842 |
6 |
c.842_844delTAA |
|
deletion |
Ashley (2001) |
Classic |
M |
|
|
|
|
1639
|
844 |
6 |
c.844A>G |
T282A |
missense mutation |
Shimotori (2008) |
Classic |
M |
12 |
Japanese |
0.008 |
|
1640
|
844 |
6 |
c.844A>G |
T282A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.008 |
|
1641
|
845 |
6 |
c.845C>A |
T282N |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.023 |
|
1642
|
845 |
6 |
c.845C>A |
T282N |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.023 |
|
1643
|
845 |
6 |
c.845C>A |
T282N |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.023 |
|
1644
|
845 |
6 |
c.845C>T |
T282I |
missense mutation |
Lukas (2013) |
|
|
|
|
0.020 |
|
1645
|
846 |
6 |
c.846_847delTC |
|
deletion |
Zizzo (2016) |
Classic |
|
|
|
|
v3.5.1 |
1646
|
847 |
6 |
c.847C>T |
Q283X |
nonsense mutation |
Koskenvuo (2009) |
|
|
|
|
|
|
1647
|
847 |
6 |
c.847C>T |
Q283X |
nonsense mutation |
Laaksonen (2008) |
Hetero |
F |
41 |
|
|
|
1648
|
847 |
6 |
c.847C>T |
Q283X |
nonsense mutation |
Tahir (2007) |
Hetero |
F |
34 |
|
|
|
1649
|
847 |
6 |
c.847C>A |
Q283K |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.052 |
v3.5 |
1650
|
848 |
6 |
c.848A>C |
Q283P |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.160 |
|
1651
|
848 |
6 |
c.848A>C |
Q283P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.160 |
|
1652
|
848 |
6 |
c.848A>G |
Q283R |
missense mutation |
Sawada(2020) |
Classic |
M |
10 |
Japanese |
0.049 |
v3.5 |
1653
|
850 |
6 |
c.850A>G |
M284V |
missense mutation |
Russo (2018) |
|
|
|
Italian |
0.030 |
v3.5 |
1654
|
851 |
6 |
c.851T>C |
M284T |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
0.010 |
|
1655
|
851 |
6 |
c.851T>C |
M284T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.010 |
|
1656
|
853 |
6 |
c.853G>C |
A285P |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.043 |
|
1657
|
853 |
6 |
c.853G>C |
A285P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.043 |
|
1658
|
854 |
6 |
c.854C>A |
A285D |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.041 |
|
1659
|
854 |
6 |
c.854C>A |
A285D |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.041 |
|
1660
|
854 |
6 |
c.854C>A |
A285D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.041 |
|
1661
|
859 |
6 |
c.859T>G |
W287G |
missense mutation |
Davies (1996) |
Classic |
M |
|
British |
0.026 |
|
1662
|
859 |
6 |
c.859T>G |
W287G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.026 |
|
1663
|
859 |
6 |
c.859T>G |
W287G |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.026 |
|
1664
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.028 |
|
1665
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.028 |
|
1666
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Wu (2011) |
|
|
|
|
0.028 |
|
1667
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.028 |
|
1668
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Germain (2002) |
Classic |
M |
29 |
British |
0.028 |
|
1669
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.028 |
|
1670
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.028 |
|
1671
|
861 |
6 |
c.861G>T |
W287C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.028 |
|
1672
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Burlina (2008) |
|
M |
40 |
|
|
|
1673
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1674
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1675
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Davies (1993) |
Classic |
|
|
|
|
|
1676
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1677
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
English |
|
|
1678
|
861 |
6 |
c.861G>A |
W287X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1679
|
862 |
6 |
c.862G>C |
A288P |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.068 |
|
1680
|
862 |
6 |
c.862G>C |
A288P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.068 |
|
1681
|
862 |
6 |
c.862G>C |
A288P |
missense mutation |
Wu (2011) |
|
|
|
|
0.068 |
|
1682
|
863 |
6 |
c.863C>A |
A288D |
missense mutation |
Eng (1994) |
Classic |
|
|
German |
0.106 |
|
1683
|
863 |
6 |
c.863C>A |
A288D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.106 |
|
1684
|
863 |
6 |
c.863C>A |
A288D |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.106 |
|
1685
|
863 |
6 |
c.863C>A |
A288D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.106 |
|
1686
|
865 |
6 |
c.865A>T |
I289F |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.181 |
|
1687
|
865 |
6 |
c.865A>T |
I289F |
missense mutation |
Wu (2011) |
|
|
|
|
0.181 |
|
1688
|
865 |
6 |
c.865A>T |
I289F |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.181 |
|
1689
|
865 |
6 |
c.865A>G |
I289V |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.003 |
v3.5 |
1690
|
866 |
6 |
c.866T>G |
I289S |
missense mutation |
Rakoczi (2007) |
|
|
|
|
0.009 |
the source paper was not written in English. |
1691
|
866 |
6 |
c.866T>G |
I289S |
missense mutation |
Erdos (2008) |
Classic |
M |
46 |
Hungarian |
0.009 |
|
1692
|
868 |
6 |
c.868A>C |
M290L |
missense mutation |
Ferri (2012) |
Hetero |
F |
34 |
|
0.014 |
|
1693
|
868 |
6 |
c.868A>C |
M290L |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.014 |
|
1694
|
868 |
6 |
c.868A>C |
M290L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.014 |
|
1695
|
868 |
6 |
c.868A>G |
M290V |
missense mutation |
Pan (2016) |
Later-Onset |
M |
30 |
Chinese |
0.017 |
v3.5 |
1696
|
870 |
6 |
c.870G>A |
M290I |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.031 |
|
1697
|
870 |
6 |
c.870G>A |
M290I |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.031 |
|
1698
|
870 |
6 |
c.870G>A |
M290I |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.031 |
|
1699
|
871 |
6 |
c.871G>A |
A291T |
missense mutation |
Zhang (2007) |
|
|
|
|
0.031 |
|
1700
|
871 |
6 |
c.871G>A |
A291T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.031 |
|
1701
|
871 |
6 |
c.871G>A |
A291T |
missense mutation |
Erdos (2008) |
Later-Onset |
M |
52 |
Hungarian |
0.031 |
|
1702
|
874 |
6 |
c.874G>C |
A292P |
missense mutation |
Wang (2005) |
Classic |
M |
|
|
0.051 |
the source paper was not written in English. |
1703
|
874 |
6 |
c.874G>A |
A292T |
missense mutation |
Spanu (2007) |
|
|
|
|
0.017 |
|
1704
|
875 |
6 |
c.875C>T |
A292V |
missense mutation |
Turaca (2012) |
|
M |
|
Brazilian |
0.044 |
|
1705
|
875 |
6 |
c.875C>T |
A292V |
missense mutation |
Pereira (2014) |
|
|
|
|
0.044 |
|
1706
|
875 |
6 |
c.875_886del12 |
|
deletion |
Favalli (2016) |
Classic |
M |
|
|
|
v3.5.1 |
1707
|
877 |
6 |
c.877C>G |
P293A |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.069 |
|
1708
|
877 |
6 |
c.877C>G |
P293A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.069 |
|
1709
|
877 |
6 |
c.877C>T |
P293S |
missense mutation |
Cooper (2000) |
|
|
|
|
0.072 |
the full paper was not found |
1710
|
877 |
6 |
c.877C>A |
P293T |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.032 |
|
1711
|
877 |
6 |
c.877C>A |
P293T |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.032 |
|
1712
|
877 |
6 |
c.877C>A |
P293T |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.032 |
|
1713
|
878 |
6 |
c.878C>T |
P293L |
missense mutation |
Sirrs (2010) |
|
|
|
|
0.078 |
|
1714
|
878 |
6 |
c.878C>A |
P293H |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.373 |
v3.5.1 |
1715
|
881 |
6 |
c.881T>C |
L294S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.017 |
|
1716
|
881 |
6 |
c.881T>G |
L294X |
nonsense mutation |
Blaydon (2001) |
Classic |
M |
|
European |
|
|
1717
|
881 |
6 |
c.881T>G |
L294X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1718
|
881 |
6 |
c.881T>G |
L294X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1719
|
881 |
6 |
c.881T>G |
L294X |
nonsense mutation |
Dobrovolny (2005) |
Classic |
|
|
|
|
|
1720
|
881 |
6 |
c.881T>G |
L294X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1721
|
884 |
6 |
c.884T>G |
F295C |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.022 |
|
1722
|
884 |
6 |
c.884T>G |
F295C |
missense mutation |
Wu (2011) |
|
|
|
|
0.022 |
|
1723
|
884 |
6 |
c.884delT |
|
deletion |
Dobrovolny (2008) |
|
|
|
|
|
|
1724
|
886 |
6 |
c.886A>T |
M296L |
missense mutation |
Niu (2010) |
|
|
|
|
0.006 |
|
1725
|
886 |
6 |
c.886A>T |
M296L |
missense mutation |
Lin (2009) |
Unknown |
M |
newborn |
Taiwanese |
0.006 |
|
1726
|
886 |
6 |
c.886A>T |
M296L |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.006 |
|
1727
|
886 |
6 |
c.886A>T |
M296L |
missense mutation |
Lin (2010) |
|
|
|
|
0.006 |
|
1728
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
von Scheidt (1991) |
Atypical |
M |
54 |
|
0.022 |
|
1729
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.022 |
|
1730
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.022 |
|
1731
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
Eng (1994)_2 |
Mild |
|
|
German |
0.022 |
|
1732
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.022 |
|
1733
|
886 |
6 |
c.886A>G |
M296V |
missense mutation |
Wu (2011) |
|
|
|
|
0.022 |
|
1734
|
887 |
6 |
c.887T>C |
M296T |
missense mutation |
Pan (2016) |
Later-Onset |
M |
49 |
Chinese |
0.020 |
v3.5 |
1735
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Nakao (1995) |
Atypical Variant |
M |
62 |
Japanese |
0.018 |
|
1736
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Ishii (2007) |
Variant |
|
|
|
0.018 |
|
1737
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.018 |
|
1738
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Okumiya (1995) |
Later-Onset |
M |
|
Japanese |
0.018 |
|
1739
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Doi (2012) |
Later-Onset |
|
|
Japanese |
0.018 |
|
1740
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Takata (1997) |
Variant |
|
|
|
0.018 |
|
1741
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.018 |
|
1742
|
888 |
6 |
c.888G>A |
M296I |
missense mutation |
Wu (2011) |
|
|
|
|
0.018 |
|
1743
|
889 |
6 |
c.889T>C |
S297P |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.067 |
v3.5 |
1744
|
890 |
6 |
c.890C>G |
S297C |
missense mutation |
Germain (2002) |
Classic |
M |
20 |
Belgian |
0.011 |
|
1745
|
890 |
6 |
c.890C>G |
S297C |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.011 |
|
1746
|
890 |
6 |
c.890C>G |
S297C |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.011 |
|
1747
|
890 |
6 |
c.890C>G |
S297C |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.011 |
|
1748
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Eng (1993) |
Classic |
|
|
Italian |
0.145 |
|
1749
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.145 |
|
1750
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.145 |
|
1751
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.145 |
|
1752
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Italian |
0.145 |
|
1753
|
890 |
6 |
c.890C>T |
S297F |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.145 |
|
1754
|
892 |
6 |
c.892A>C |
N298H |
missense mutation |
Davies (1996) |
Hetero |
F |
|
British |
0.089 |
|
1755
|
892 |
6 |
c.892A>C |
N298H |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.089 |
|
1756
|
892 |
6 |
c.892A>C |
N298H |
missense mutation |
Blaydon (2001) |
Classic |
M |
|
|
0.089 |
|
1757
|
892 |
6 |
c.892A>C |
N298H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.089 |
|
1758
|
892 |
6 |
c.892_893insT |
|
insertion |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
1759
|
893 |
6 |
c.893A>G |
N298S |
missense mutation |
Eng (1997) |
Classic |
|
|
|
0.029 |
|
1760
|
893 |
6 |
c.893A>G |
N298S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.029 |
|
1761
|
893 |
6 |
c.893A>G |
N298S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.029 |
|
1762
|
893 |
6 |
c.893A>G |
N298S |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.029 |
|
1763
|
893 |
6 |
c.893_894insG |
|
insertion |
Ashley (2001) |
Classic |
M |
|
|
|
|
1764
|
894 |
6 |
c.894T>G |
N298K |
missense mutation |
Blanch (1996) |
Classic |
M |
|
|
0.092 |
|
1765
|
894 |
6 |
c.894T>G |
N298K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.092 |
|
1766
|
894 |
6 |
c.894T>G |
N298K |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.092 |
|
1767
|
894 |
6 |
c.894T>G |
N298K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.092 |
|
1768
|
894 |
6 |
c.894T>G |
N298K |
missense mutation |
Sadick (2007) |
|
M |
46 |
|
0.092 |
|
1769
|
896 |
6 |
c.896A>G |
D299G |
missense mutation |
Kwan (2007) |
|
|
|
|
0.368 |
the full paper was not found |
1770
|
896 |
6 |
c.896A>T |
D299V |
missense mutation |
Tsuboi (2015) |
Classic |
M |
19 |
Japanese |
0.175 |
|
1771
|
896 |
6 |
c.896A>T |
D299V |
missense mutation |
Tsuboi (2015) |
Hetero |
F |
55 |
Japanese |
0.175 |
|
1772
|
897 |
6 |
c.897C>G |
D299E |
missense mutation |
Linthorst (2003) |
|
M |
|
|
0.033 |
|
1773
|
898 |
6 |
c.898C>T |
L300F |
missense mutation |
Shabbeer (2005) |
|
M |
|
|
0.029 |
|
1774
|
898 |
6 |
c.898C>T |
L300F |
missense mutation |
Andreotti (2011) |
? |
|
|
|
0.029 |
? In the source paper |
1775
|
899 |
6 |
c.899T>A |
L300H |
missense mutation |
Schafer (2005) |
|
|
|
|
0.075 |
|
1776
|
899 |
6 |
c.899T>C |
L300P |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.007 |
|
1777
|
899 |
6 |
c.899T>C |
L300P |
missense mutation |
Shin (2007) |
|
|
|
|
0.007 |
|
1778
|
899 |
6 |
c.899T>C |
L300P |
missense mutation |
Wu (2011) |
|
|
|
|
0.007 |
|
1779
|
901 |
6 |
c.901C>G |
R301G |
missense mutation |
Lai (2001) |
|
|
|
|
0.148 |
|
1780
|
901 |
6 |
c.901C>G |
R301G |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.148 |
|
1781
|
901 |
6 |
c.901C>G |
R301G |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.148 |
|
1782
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Eng (1994) |
Classic |
|
|
English |
|
|
1783
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
1784
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1785
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Germain (2002) |
Hetero |
F |
48 |
French Canadian |
|
|
1786
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Takata (1997) |
Classic |
|
|
|
|
|
1787
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
1788
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
|
|
1789
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Blaydon (2001) |
|
|
|
|
|
|
1790
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Blaydon (2001) |
|
|
|
|
|
|
1791
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
1792
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
|
|
1793
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Bouwman (2013) |
|
|
|
|
|
|
1794
|
901 |
6 |
c.901C>T |
R301X |
nonsense mutation |
Erdos (2008) |
|
|
|
|
|
|
1795
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Sakuraba (1990) |
Atypical |
M |
52 |
Japanese |
0.126 |
|
1796
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Ishii (2007) |
Variant |
|
|
Japanese |
0.126 |
|
1797
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Ishii (2012) |
|
|
|
Japanese |
0.126 |
|
1798
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.126 |
|
1799
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Germain (2002) |
Intermediate |
M |
60 |
French |
0.126 |
|
1800
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.126 |
|
1801
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Ishii (1992) |
Atypical Variant |
|
|
Japanese |
0.126 |
|
1802
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Okumiya (1995) |
Atypical |
M |
|
Japanese |
0.126 |
|
1803
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Shin (2007) |
|
|
|
|
0.126 |
|
1804
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Nakao (1995) |
Atypical Variant |
|
|
Japanese |
0.126 |
|
1805
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Eng (1994)_2 |
Mild |
|
|
Japanese |
0.126 |
|
1806
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Altarescu (2001) |
|
|
|
|
0.126 |
|
1807
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.126 |
|
1808
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Takata (1997) |
Variant |
|
|
|
0.126 |
|
1809
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Glass (2004) |
Hetero |
F |
|
|
0.126 |
|
1810
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Nagasaki (2008) |
Hetero |
F |
43 |
Taiwanese |
0.126 |
|
1811
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Auray-Blais (2015) |
Atypical phenotype |
M |
Children |
|
0.126 |
|
1812
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Garman (2002) |
Mild |
|
|
|
0.126 |
|
1813
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Germain (1999) |
Classic |
|
|
|
0.126 |
|
1814
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Lee (2014) |
non-Classic |
|
|
Taiwanese |
0.126 |
|
1815
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Madsen (1995) |
|
|
|
Danish |
0.126 |
|
1816
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Rosenberg (1999) |
|
|
|
|
0.126 |
|
1817
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Lukas (2013) |
Classic/Later-Onset |
|
|
|
0.126 |
|
1818
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Wu (2011) |
|
|
|
|
0.126 |
|
1819
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Zhang (2007) |
|
|
|
|
0.126 |
|
1820
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Branton (2002) |
|
|
|
|
0.126 |
|
1821
|
902 |
6 |
c.902G>A |
R301Q |
missense mutation |
Liao (2014) |
|
|
newborn |
Taiwanese |
0.126 |
|
1822
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.074 |
|
1823
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.074 |
|
1824
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.074 |
|
1825
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.074 |
|
1826
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.074 |
|
1827
|
902 |
6 |
c.902G>C |
R301P |
missense mutation |
Mills (2005) |
|
|
|
|
0.074 |
|
1828
|
902 |
6 |
c.902G>T |
R301L |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.071 |
v3.5 |
1829
|
902 |
6 |
c.902dupG |
|
duplication |
Ashley (2001) |
Classic |
M |
|
|
|
|
1830
|
904 |
6 |
c.904 |
H302X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
1831
|
904 |
6 |
c.904 |
H302X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
1832
|
906 |
6 |
c.906_935dup30 |
|
duplication |
Sakuraba (2018) |
Classic |
M |
17 |
Japanese |
|
v3.5 |
1833
|
907 |
6 |
c.907 |
I303X |
nonsense mutation |
Branton (2002) |
|
M |
42 |
|
|
|
1834
|
907 |
6 |
c.907A>T |
I303F |
missense mutation |
Graziani (2017) |
Classic |
M |
35 |
|
0.048 |
v3.5 |
1835
|
908 |
6 |
c.908T>A |
I303N |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.010 |
|
1836
|
908 |
6 |
c.908T>C |
I303T |
missense mutation |
Sawada(2020) |
Classic |
F |
30 |
Japanese |
0.018 |
v3.5 |
1837
|
908 |
6 |
c.908_928del21 |
|
deletion |
Sawada(2020) |
Classic |
M |
55 |
Japanese |
|
v3.5 |
1838
|
909 |
6 |
c.909_918del10 |
|
deletion |
Blaydon (2001) |
Classic |
M |
|
|
|
|
1839
|
911 |
6 |
c.911G>A |
S304N |
missense mutation |
Scott (2013) |
|
|
|
|
0.019 |
S334N in the source paper |
1840
|
911 |
6 |
c.911G>C |
S304T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.017 |
|
1841
|
911 |
6 |
c.911G>C |
S304T |
VUS? |
Liao (2018) |
VUS? |
F |
newborn |
Taiwanese |
0.017 |
v3.5.1 |
1842
|
914 |
6 |
c.914delC |
|
deletion |
Whybra (2001) |
Hetero |
F |
|
|
|
|
1843
|
916 |
6 |
c.916C>T |
Q306X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1844
|
916 |
6 |
c.916C>T |
Q306X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1845
|
924 |
6 |
c.924A>T |
K308N |
missense mutation |
Shimotori (2008) |
Classic |
M |
Child |
Japanese |
0.075 |
|
1846
|
924 |
6 |
c.924A>C |
K308N |
missense mutation |
Koulousios (2017) |
Later-Onset |
M |
46 |
Greek |
0.075 |
v3.5 |
1847
|
926 |
6 |
c.926C>T |
A309V |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.022 |
v3.5 |
1848
|
928 |
6 |
c.928C>T |
L310F |
missense mutation |
Calado (2004) |
Classic |
|
|
|
0.084 |
|
1849
|
928 |
6 |
c.928C>T |
L310F |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.084 |
|
1850
|
928 |
6 |
c.928C>T |
L310F |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.084 |
|
1851
|
928 |
6 |
c.928C>T |
L310F |
missense mutation |
Hum Genet 2004, 115: 347 |
Classic |
|
|
|
0.084 |
|
1852
|
928 |
6 |
c.928C>G |
L310V |
missense mutation |
Choi (2017) |
Later-Onset |
|
|
Korean |
0.048 |
v3.5 |
1853
|
929 |
6 |
c.929T>G |
L310R |
missense mutation |
Meng (2010) |
Classic |
M |
|
Chinese |
0.051 |
the source paper was not written in English. |
1854
|
931 |
6 |
c.931C>T |
L311F |
missense mutation |
Laaksonen (2008) |
Hetero |
F |
20 |
|
0.044 |
|
1855
|
931 |
6 |
c.931C>G |
L311V |
missense mutation |
Lukas (2013) |
|
|
|
|
0.069 |
|
1856
|
931 |
6 |
c.931dupC |
|
duplication |
Nguyen (2019) |
Hetero |
F |
|
|
|
v3.5 |
1857
|
931 |
6 |
c.931delC |
|
deletion |
Tchan M (2011) |
Classic |
M |
37 |
|
|
v3.5.1 |
1858
|
932 |
6 |
c.932T>G |
L311R |
missense mutation |
Suzuki (2011) |
Classic |
M |
37 |
Japanese |
0.097 |
|
1859
|
932 |
6 |
c.932T>G |
L311R |
missense mutation |
Tsuboi (2012) |
|
|
|
|
0.097 |
|
1860
|
932 |
6 |
c.932T>C |
L311P |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.049 |
v3.5.1 |
1861
|
934 |
6 |
c.934C>T |
Q312X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1862
|
935 |
6 |
c.935A>G |
Q312R |
missense mutation |
Shimotori (2008) |
Later-Onset |
|
|
Japanese |
0.110 |
|
1863
|
936 |
6 |
c.936G>T |
Q312H |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.071 |
with A143T. late-onset with only A143T |
1864
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Eng (1993) |
Classic |
|
|
German |
0.095 |
functinal variant (polymorphism) by Prof. Sakuraba |
1865
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Adalsteinsdottir (2014) |
|
|
|
|
0.095 |
|
1866
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Baptista (2010) |
|
|
Young |
Portuguese |
0.095 |
|
1867
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Guffon (1998) |
Classic |
M |
10 |
French |
0.095 |
with G411Y |
1868
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Guffon (2003) |
Hetero |
|
|
|
0.095 |
with G411D |
1869
|
937 |
6 |
c.937G>T |
D313Y |
funct. variant? |
Yasuda (2003) |
Pseudodeficiency |
|
|
|
0.095 |
|
1870
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
German |
0.095 |
|
1871
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Froissart (2003) |
Classic |
M |
|
|
0.095 |
|
1872
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Blaydon (2001) |
|
F |
|
|
0.095 |
|
1873
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.095 |
|
1874
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Mignani (2008) |
|
|
|
|
0.095 |
|
1875
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.095 |
|
1876
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.095 |
|
1877
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.095 |
|
1878
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
De Brabander (2013) |
|
|
|
|
0.095 |
|
1879
|
937 |
6 |
c.937G>T |
D313Y |
missense mutation |
Ferri (2012) |
|
|
|
|
0.095 |
|
1880
|
937 |
6 |
c.937G>T |
D313Y |
funct. variant? |
Niemann (2013) |
Pseudodeficiency |
|
|
|
0.095 |
|
1881
|
937 |
6 |
c.937G>A |
D313N |
missense mutation |
Lukas (2016) |
|
|
|
|
0.092 |
v3.5 |
1882
|
938 |
6 |
c.938A>G |
D313G |
missense mutation |
Scott (2013) |
|
|
|
|
0.100 |
|
1883
|
943 |
6 |
c.943 |
V315I |
missense mutation |
Rolfs (2013) |
|
|
|
|
|
V316I? A315 |
1884
|
943 |
6 |
c.943G>A |
D315N |
missense mutation |
Lukas (2016) |
|
|
|
|
0.045 |
v3.5 |
1885
|
946 |
6 |
c.946G>A |
V316I |
missense mutation |
Lukas (2013) |
Variant |
|
|
|
0.014 |
|
1886
|
946 |
6 |
c.946delG |
|
deletion |
Morrone (2003) |
Classic |
M |
31 |
Itarian |
|
|
1887
|
947 |
6 |
c.947T>A |
V316E |
missense mutation |
Davies (1994) |
Classic |
|
|
|
0.051 |
|
1888
|
947 |
6 |
c.947T>A |
V316E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.051 |
no description about phenotype in the source paper |
1889
|
947 |
6 |
c.947T>A |
V316E |
missense mutation |
Wu (2011) |
|
|
|
|
0.051 |
|
1890
|
947 |
6 |
c.947T>A |
V316E |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.051 |
|
1891
|
947 |
6 |
c.947T>G |
V316G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
1892
|
947 |
6 |
c.947T>C |
V316A |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.003 |
v3.5 |
1893
|
947 |
6 |
c.947dupT |
|
duplication |
Lukas (2013) |
|
|
|
|
|
|
1894
|
947 |
6 |
c.947_948ins47 |
|
insertion |
Choi (2017) |
|
|
|
|
|
v3.5.1 |
1895
|
950 |
6 |
c.950T>A |
I317N |
missense mutation |
Schafer (2005) |
|
|
|
|
0.028 |
|
1896
|
950 |
6 |
c.950T>C |
I317T |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.009 |
|
1897
|
950 |
6 |
c.950T>C |
I317T |
missense mutation |
Dobrovolny (2005) |
Classic |
M |
9 |
|
0.009 |
|
1898
|
950 |
6 |
c.950T>C |
I317T |
missense mutation |
Mignani (2008) |
|
|
|
|
0.009 |
|
1899
|
950 |
6 |
c.950T>C |
I317T |
missense mutation |
Sachdev (2002) |
|
M |
34 |
|
0.009 |
v3.5.1 |
1900
|
950 |
6 |
c.950T>G |
I317S |
missense mutation |
Turaca (2012) |
|
M |
|
Brazilian |
0.037 |
|
1901
|
950 |
6 |
c.950T>G |
I317S |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.037 |
v3.5 |
1902
|
950 |
6 |
c.950_954dupTTGCC |
|
duplication |
Eng (1993) |
Classic |
|
|
|
|
|
1903
|
952 |
6 |
c.952delG |
|
deletion |
Paull (2012) |
Hetero |
F |
44 |
|
|
v3.5.1 |
1904
|
955 |
6 |
c.955A>T |
I319F |
missense mutation |
Brennan (2014) |
|
M |
|
|
0.096 |
no description about phenotype in the source paper |
1905
|
956 |
6 |
c.956T>C |
I319T |
missense mutation |
Sirrs (2010) |
|
|
|
|
0.022 |
|
1906
|
956 |
6 |
c.956T>C |
I319T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.022 |
|
1907
|
958 |
6 |
c.958A>T |
N320Y |
missense mutation |
Ashton-Prolla (2000) |
Classic |
M |
|
|
0.183 |
|
1908
|
958 |
6 |
c.958A>T |
N320Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.183 |
|
1909
|
958 |
6 |
c.958A>T |
N320Y |
missense mutation |
Wu (2011) |
|
|
|
|
0.183 |
|
1910
|
958 |
6 |
c.958A>T |
N320Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.035 |
N320V in the source paper |
1911
|
959 |
6 |
c.959A>T |
N320I |
missense mutation |
Schafer (2005) |
|
|
|
|
0.063 |
|
1912
|
959 |
6 |
c.959A>T |
N320I |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.063 |
|
1913
|
959 |
6 |
c.959A>T |
N320I |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.063 |
|
1914
|
960 |
6 |
c.960T>G |
N320K |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.105 |
|
1915
|
960 |
6 |
c.960T>G |
N320K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.105 |
|
1916
|
960 |
6 |
c.960T>G |
N320K |
missense mutation |
Takata (1997) |
Classic |
|
|
Japanese |
0.105 |
|
1917
|
960 |
6 |
c.960T>G |
N320K |
missense mutation |
Utsumi (2009) |
Hetero |
F |
41 |
Japanese |
0.105 |
|
1918
|
960 |
6 |
c.960T>G |
N320K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.105 |
|
1919
|
961 |
6 |
c.961C>G |
Q321E |
missense mutation |
Topaloglu (1999) |
Classic |
M |
|
|
0.088 |
|
1920
|
961 |
6 |
c.961C>G |
Q321E |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.088 |
|
1921
|
961 |
6 |
c.961C>G |
Q321E |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.088 |
|
1922
|
961 |
6 |
c.961C>T |
Q321X |
nonsense mutation |
Schafer (2005) |
|
|
|
|
|
|
1923
|
961 |
6 |
c.961C>T |
Q321X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1924
|
961 |
6 |
c.961C>T |
Q321X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1925
|
962 |
6 |
c.962A>G |
Q321R |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.034 |
|
1926
|
962 |
6 |
c.962A>G |
Q321R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.034 |
|
1927
|
962 |
6 |
c.962A>T |
Q321L |
missense mutation |
Auray-Blais (2008) |
|
|
|
|
0.015 |
|
1928
|
963 |
6 |
c.963G>C |
Q321H |
missense mutation |
Lukas (2013) |
|
|
|
|
0.090 |
|
1929
|
964 |
6 |
c.964G>C |
D322H |
missense mutation |
Liao (2015) |
suggest Fabry disease |
|
newborn |
Taiwanese |
0.160 |
|
1930
|
964 |
6 |
c.964G>A |
D322N |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.096 |
v3.5.1 |
1931
|
966 |
6 |
c.966C>G |
D322E |
missense mutation |
Adalsteinsdottir (2014) |
|
|
|
|
0.153 |
|
1932
|
966 |
6 |
c.966C>G |
D322E |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.153 |
|
1933
|
967 |
6 |
c.967C>A |
P323T |
missense mutation |
Chaves-Markman (2019) |
Hetero |
F |
39 |
|
0.004 |
v3.5 |
1934
|
968 |
6 |
c.968C>G |
P323R |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.025 |
v3.5 |
1935
|
973 |
6 |
c.973G>A |
G325S |
missense mutation |
Lukas (2013) |
|
|
|
|
0.105 |
|
1936
|
974 |
6 |
c.974G>A |
G325D |
missense mutation |
Schafer (2005) |
|
|
|
|
0.121 |
|
1937
|
974 |
6 |
c.974G>A |
G325D |
missense mutation |
Wu (2011) |
|
|
|
|
0.121 |
|
1938
|
974 |
6 |
c.974dupG |
|
duplication |
Germain (2002) |
Classic |
M |
21 |
French |
|
|
1939
|
979 |
6 |
c.979C>G |
Q327E |
missense mutation |
Schafer (2005) |
|
|
|
|
0.030 |
|
1940
|
979 |
6 |
c.979C>G |
Q327E |
missense mutation |
Lukas (2013) |
|
|
|
|
0.030 |
|
1941
|
979 |
6 |
c.979C>A |
Q327K |
missense mutation |
Davies (1993) |
Classic |
|
|
|
0.254 |
|
1942
|
979 |
6 |
c.979C>A |
Q327K |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.254 |
|
1943
|
979 |
6 |
c.979C>A |
Q327K |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
English |
0.254 |
|
1944
|
979 |
6 |
c.979C>A |
Q327K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.254 |
|
1945
|
979 |
6 |
c.979C>A |
Q327K |
missense mutation |
Germain (1999) |
Classic |
|
|
|
0.254 |
|
1946
|
980 |
6 |
c.980A>G |
Q327R |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.183 |
v3.5 |
1947
|
980 |
6 |
c.980A>T |
Q327L |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.071 |
v3.5 |
1948
|
981 |
6 |
c.981A>C |
Q327H |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.170 |
v3.5 |
1949
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Ishii (1992) |
Classic |
M |
34 |
Japanse? |
0.283 |
|
1950
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.283 |
|
1951
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Shimotori (2008) |
|
|
|
Japanese |
0.283 |
|
1952
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Okumiya (1995) |
Classic |
|
|
|
0.283 |
|
1953
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Germain (2002) |
Classic |
M |
26 |
Arab |
0.283 |
|
1954
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Japanese |
0.283 |
|
1955
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Ashton-Prolla (2000) |
Classic |
|
|
|
0.283 |
|
1956
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Takata (1997) |
Classic |
|
|
|
0.283 |
|
1957
|
982 |
6 |
c.982G>A |
G328R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.283 |
|
1958
|
982 |
6 |
c.982G>C |
G328R |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.283 |
v3.5 |
1959
|
982 |
6 |
c.982G>T |
G328W |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.299 |
v3.5.1 |
1960
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Eng (1993) |
Classic |
|
|
Scottish/Irish |
0.100 |
|
1961
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.100 |
|
1962
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.100 |
|
1963
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Shin (2008) |
Variant |
|
|
|
0.100 |
|
1964
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.100 |
|
1965
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Scottish/Irish |
0.100 |
|
1966
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.100 |
|
1967
|
983 |
6 |
c.983G>C |
G328A |
missense mutation |
Wu (2011) |
|
|
|
|
0.100 |
|
1968
|
983 |
6 |
c.983G>A |
G328E |
missense mutation |
Kwan (2007) |
|
|
|
|
0.148 |
the full paper was not found |
1969
|
983 |
6 |
c.983G>T |
G328V |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.160 |
|
1970
|
983 |
6 |
c.983G>T |
G328V |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.160 |
|
1971
|
983 |
6 |
c.983G>T |
G328V |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.160 |
|
1972
|
986 |
6 |
c.986delA |
|
deletion |
Schafer (2005) |
|
|
|
|
|
|
1973
|
987 |
6 |
c.987C>A |
Y329X |
nonsense mutation |
Sawada(2020) |
Hetero |
F |
24 |
Japanese |
|
v3.5 |
1974
|
988 |
6 |
c.988C>T |
Q330X |
nonsense mutation |
Dobrovolny (2005)_2 |
Classic |
M |
44 |
|
|
|
1975
|
988 |
6 |
c.988C>T |
Q330X |
nonsense mutation |
Xiong (2015) |
|
|
|
|
|
no description about phenotype in the source paper |
1976
|
988 |
6 |
c.988C>T |
Q330X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
no description about phenotype in the source paper |
1977
|
988 |
6 |
c.988delC |
|
deletion |
Blanch (1996) |
Classic |
M |
|
|
|
|
1978
|
989 |
6 |
c.989A>G |
Q330R |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.033 |
v3.5 |
1979
|
994 |
6 |
c.994delA |
|
deletion |
Germain (2002) |
Classic |
|
19 |
Iraqi |
|
|
1980
|
994 |
6 |
c.994dupA |
|
duplication |
Lukas (2013) |
|
|
|
|
|
|
1981
|
996 |
6 |
c.996_999delACAG |
|
deletion |
Shabbeer (2002) |
Classic |
|
|
|
|
|
1982
|
997 |
6 |
c.997C>T |
Q333X |
nonsense mutation |
Lorenz (2003) |
Classic |
M |
27 |
Austria |
|
|
1983
|
997 |
6 |
c.997C>T |
Q333X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
1984
|
997 |
6 |
c.997dupC |
|
duplication |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1985
|
999 |
IVS6 |
c.999+1G>T |
|
splicing defect |
Sakuraba (1992) |
Classic |
|
|
Japanese |
|
v3.5.1 |
1986
|
999 |
IVS6 |
c.999+2T>C |
|
splicing defect |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
1987
|
1000 |
IVS6 |
c.1000-2A>G |
|
splicing defect |
Sirrs (2010) |
|
|
|
|
|
|
1988
|
1000 |
IVS6 |
c.1000-2A>T |
|
splicing defect |
Auray-Blais (2008) |
|
|
|
|
|
|
1989
|
1000 |
IVS6 |
c.1000-1G>C |
|
splicing defect |
Shabbeer (2006) |
|
|
|
|
|
|
1990
|
1000 |
IVS6 |
c.1000-1G>A |
|
|
Matsumura (1998) |
Classic |
M |
47 |
Japanese |
|
v3.5.1 |
1991
|
1001 |
7 |
c.1001G>A |
S334N |
missense mutation |
Scott (2013) |
|
|
|
|
|
v3.5.1 |
1992
|
1010 |
7 |
c.1010T>C |
F337S |
missense mutation |
Favalli (2016) |
|
|
|
|
0.051 |
v3.5 |
1993
|
1011 |
7 |
c.1011_1029del19 |
|
deletion |
Davies (1994) |
Classic |
|
|
|
|
|
1994
|
1012 |
7 |
c.1012G>A |
E338K |
missense mutation |
Shabbeer (2005) |
Classic |
M |
|
|
0.148 |
|
1995
|
1012 |
7 |
c.1012G>A |
E338K |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.148 |
|
1996
|
1012 |
7 |
c.1012G>T |
E338X |
nonsense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
|
|
1997
|
1012 |
7 |
c.1012G>T |
E338X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
1998
|
1016 |
7 |
c.1016T>A |
V339E |
missense mutation |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
0.076 |
v3.5 |
1999
|
1016 |
7 |
c.1016T>G |
V339G |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.013 |
v3.5.1 |
2000
|
1017 |
7 |
c.1017_1027del11 |
|
deletion |
Eng (1993) |
Classic |
|
|
German |
|
|
2001
|
1018 |
7 |
c.1018T>C |
W340R |
missense mutation |
Davies (1996) |
Hetero |
F |
|
German |
0.106 |
|
2002
|
1018 |
7 |
c.1018T>C |
W340R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.106 |
|
2003
|
1019 |
7 |
c.1019G>C |
W340S |
missense mutation |
Kobayashi (2014) |
Classic |
M |
- |
Japanese |
0.032 |
|
2004
|
1019 |
7 |
c.1019G>A |
W340X |
nonsense mutation |
Sakuraba (2018) |
Classic |
M |
34 |
Japanese |
|
v3.5.1 |
2005
|
1019 |
7 |
c.1019G>A |
W340X |
nonsense mutation |
Saito (2016) |
|
|
|
|
|
v3.5 |
2006
|
1020 |
7 |
c.1020G>A |
W340X |
nonsense mutation |
Eng (1993) |
Classic |
|
|
African-American |
|
|
2007
|
1020 |
7 |
c.1020G>A |
W340X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
2008
|
1020 |
7 |
c.1020G>A |
W340X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
African American |
|
|
2009
|
1020 |
7 |
c.1020G>A |
W340X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2010
|
1021 |
7 |
c.1021G>A |
E341K |
missense mutation |
Beyer (1999) |
Classic |
M |
|
Russian |
0.303 |
|
2011
|
1021 |
7 |
c.1021G>A |
E341K |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.303 |
|
2012
|
1021 |
7 |
c.1021G>A |
E341K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.303 |
|
2013
|
1021 |
7 |
c.1021delG |
|
deletion |
Eng (1994) |
|
|
|
|
|
|
2014
|
1021 |
7 |
c.1021delG |
|
deletion |
Sawada(2020) |
Classic |
M |
55 |
Japanese |
|
v3.5 |
2015
|
1021 |
7 |
c.1021G>T |
E341X |
nonsense mutation |
Zizzo (2016) |
Classic |
|
|
|
|
v3.5 |
2016
|
1022 |
7 |
c.1022A>G |
E341G |
missense mutation |
Pan (2016) |
Classic |
M |
17 |
Chinese |
0.201 |
v3.5 |
2017
|
1023 |
7 |
c.1023A>C |
E341D |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.162 |
|
2018
|
1023 |
7 |
c.1023A>C |
E341D |
missense mutation |
Andreotti (2011) |
Classic |
|
|
|
0.162 |
|
2019
|
1023 |
7 |
c.1023A>C |
E341D |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.162 |
|
2020
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Davies (1993) |
Classic |
|
|
Greek/English |
|
|
2021
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Park (2009) |
Classic |
|
|
Korean |
|
|
2022
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Rigoldi (2014) |
Classic |
M |
20 |
|
|
|
2023
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Lee (2010) |
Classic |
|
|
Korean |
|
|
2024
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Lee (2000) |
Classic |
M |
8 |
Korean |
|
|
2025
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Guffon (1998) |
Hetero |
F |
20 |
French |
|
|
2026
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Guffon (2003) |
Hetero |
|
|
|
|
|
2027
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Shabbeer (2006) |
Classic |
|
|
|
|
|
2028
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
Greek/English |
|
|
2029
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Glass (2004) |
Classic |
M |
|
|
|
|
2030
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Blaydon (2001) |
Classic |
|
|
|
|
|
2031
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2032
|
1024 |
7 |
c.1024C>T |
R342X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
2033
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Ploos van Amstel (1994) |
Classic |
|
|
Dutch |
0.059 |
|
2034
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Germain (2001) |
|
|
|
|
0.059 |
|
2035
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.059 |
|
2036
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Germain (2002) |
Classic |
M |
33 |
French |
0.059 |
|
2037
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Dobrovolny (2005) |
Classic |
M |
25 |
|
0.059 |
|
2038
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Dutch |
0.059 |
|
2039
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Davies (1996) |
|
F |
|
British |
0.059 |
|
2040
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
0.059 |
|
2041
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.059 |
|
2042
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.059 |
|
2043
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Pereira (2014) |
|
|
|
|
0.059 |
|
2044
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Wu (2011) |
|
|
|
|
0.059 |
|
2045
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Bouwman (2013) |
|
|
|
|
0.059 |
|
2046
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Erdos (2008) |
|
|
|
|
0.059 |
|
2047
|
1025 |
7 |
c.1025G>A |
R342Q |
missense mutation |
Vedder (2007) |
|
|
|
Dutch |
0.059 |
|
2048
|
1025 |
7 |
c.1025G>T |
R342L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.052 |
|
2049
|
1025 |
7 |
c.1025G>C |
R342P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.089 |
|
2050
|
1025 |
7 |
c.1025delG |
|
deletion |
Schafer (2005) |
|
|
|
|
|
|
2051
|
1028 |
7 |
c.1028C>T |
P343L |
missense mutation |
Mills (2005) |
Hetero |
F |
39 |
|
0.008 |
|
2052
|
1031 |
7 |
c.1031T>C |
L344P |
missense mutation |
Schafer (2005) |
|
|
|
|
0.066 |
|
2053
|
1031 |
7 |
c.1031T>C |
L344P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.066 |
|
2054
|
1031 |
7 |
c.1031dupT |
|
duplication |
Choi (2012) |
Later-Onset |
M |
34 |
Korean |
|
v3.5.1 |
2055
|
1033 |
7 |
c.1033T>C |
S345P |
missense mutation |
Schafer (2005) |
|
|
|
|
0.038 |
|
2056
|
1033 |
7 |
c.1033T>C |
S345P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.038 |
|
2057
|
1033 |
7 |
c.1033_1034delTC |
|
deletion |
Germain (1996) |
Classic |
M |
44 |
|
|
|
2058
|
1034 |
7 |
c.1034C>A |
S345X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2059
|
1034 |
7 |
c.1034C>A |
S345X |
nonsense mutation |
Tai (2012) |
|
|
|
|
|
|
2060
|
1034 |
7 |
c.1034C>A |
S345X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
2061
|
1034 |
7 |
c.1034C>A |
S345X |
nonsense mutation |
Lee (2014) |
|
|
|
Taiwanese |
|
|
2062
|
1034 |
7 |
c.1034C>A |
S345X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
2063
|
1037 |
7 |
c.1037delG |
|
deletion |
Rodriguez-Mari (2003) |
|
|
|
|
|
|
2064
|
1040 |
7 |
c.1040dupT |
|
duplication |
Ploos van Amstel (1994) |
|
M |
|
|
|
|
2065
|
1041 |
7 |
c.1041dupA |
|
duplication |
Germain (2002) |
Classic |
M |
50 |
|
|
|
2066
|
1042 |
7 |
c.1042G>C |
A348P |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.033 |
|
2067
|
1042 |
7 |
c.1042dupG |
|
duplication |
Shabbeer (2002) |
Classic |
|
|
|
|
|
2068
|
1043 |
7 |
c.1043_1044insG |
|
insertion |
Shabbeer (2002) |
Classic |
|
|
|
|
|
2069
|
1045 |
7 |
c.1045T>A |
W349R |
missense mutation |
Meng (2010) |
Classic |
M |
|
Chinese |
0.106 |
the source paper was not written in English. |
2070
|
1045 |
7 |
c.1045T>A |
W349R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.106 |
|
2071
|
1045 |
7 |
c.1045T>A |
W349R |
missense mutation |
Lee (2010) |
Classic |
|
|
Korean |
0.106 |
|
2072
|
1045 |
7 |
c.1045T>C |
W349R |
missense mutation |
Echevarria (2016) |
Hetero |
F |
|
|
0.106 |
v3.5 |
2073
|
1046 |
7 |
c.1046G>A |
W349X |
nonsense mutation |
Ashley (2001) |
Classic |
M |
|
|
|
|
2074
|
1046 |
7 |
c.1046G>A |
W349X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2075
|
1046 |
7 |
c.1046G>A |
W349X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2076
|
1047 |
7 |
c.1047G>A |
W349X |
nonsense mutation |
Barbey (2019) |
Classic |
F |
23 |
|
|
v3.5 |
2077
|
1048 |
7 |
c.1048G>C |
A350P |
missense mutation |
Schafer (2005) |
|
|
|
|
0.055 |
|
2078
|
1049 |
7 |
c.1049delC |
|
deletion |
Sirrs (2010) |
|
|
|
|
|
|
2079
|
1051 |
7 |
c.1051_1052delGT |
|
deletion |
Uribe A (2015) |
|
|
|
|
|
v3.5.1 |
2080
|
1054 |
7 |
c.1054G>C |
A352P |
missense mutation |
Sawada(2020) |
Classic |
M |
13 |
Japanese |
0.082 |
v3.5 |
2081
|
1055 |
7 |
c.1055C>A |
A352D |
missense mutation |
Morrone (2003) |
Classic |
M |
10 |
Italian |
0.061 |
|
2082
|
1055 |
7 |
c.1055C>G |
A352G |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.012 |
v3.5 |
2083
|
1055 |
7 |
c.1055C>T |
A352V |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.044 |
v3.5.1 |
2084
|
1055 |
7 |
c.1055_1056delCT |
|
deletion |
Juchniewicz (2018) |
|
|
|
|
|
v3.5 |
2085
|
1055 |
7 |
c.1055_1057dupCTA |
|
duplication |
Nowak (2018) |
Classic |
M |
31 |
|
|
v3.5 |
2086
|
1057 |
7 |
c.1057_1058delAT |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
|
2087
|
1061 |
7 |
c.1061T>A |
I354K |
missense mutation |
Mignani (2008) |
|
M |
37 |
|
0.119 |
|
2088
|
1065 |
7 |
c.1065C>A |
N355K |
missense mutation |
Germain (2002) |
Classic |
M |
16 |
French |
0.134 |
|
2089
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Bernstein (1989) |
Classic |
|
|
Scottish |
0.079 |
|
2090
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Ishii (2007) |
Classic |
|
|
|
0.079 |
|
2091
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Lin (2009) |
Classic |
M |
newborn |
Taiwanese |
0.079 |
|
2092
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Shin (2007) |
|
|
|
|
0.079 |
|
2093
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.079 |
|
2094
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
Scottish |
0.079 |
|
2095
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Altarescu (2001) |
Classic |
|
|
|
0.079 |
|
2096
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Glass (2004) |
Classic |
M |
|
|
0.079 |
|
2097
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.079 |
|
2098
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
0.079 |
|
2099
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Pasqualim (2014) |
Hetero |
F |
|
|
0.079 |
|
2100
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Pereira (2014) |
|
|
|
|
0.079 |
|
2101
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Siekierska (2012) |
|
|
|
|
0.079 |
|
2102
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.079 |
|
2103
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Wu (2011) |
|
|
|
|
0.079 |
|
2104
|
1066 |
7 |
c.1066C>T |
R356W |
missense mutation |
Branton (2002) |
|
|
|
|
0.079 |
|
2105
|
1066 |
7 |
c.1066C>G |
R356G |
missense mutation |
Pan (2016) |
Classic |
M |
17 |
Chinese |
0.076 |
v3.5 |
2106
|
1067 |
7 |
c.1067G>A |
R356Q |
missense mutation |
Hwu (2009) |
|
|
|
Taiwanese |
0.050 |
|
2107
|
1067 |
7 |
c.1067G>A |
R356Q |
missense mutation |
Lukas (2013) |
|
|
|
|
0.050 |
|
2108
|
1067 |
7 |
c.1067G>A |
R356Q |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.050 |
|
2109
|
1067 |
7 |
c.1067G>A |
R356Q |
VUS? |
Liao (2018) |
VUS? |
M |
newborn |
Taiwanese |
0.050 |
v3.5.1 |
2110
|
1067 |
7 |
c.1067G>C |
R356P |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.049 |
v3.5 |
2111
|
1067 |
7 |
c.1067_1082del16insTACTCTTAT |
|
indel |
Sakuraba (2018) |
Hetero |
F |
58 |
Japanese |
|
v3.5 |
2112
|
1069 |
7 |
c.1069C>T |
Q357X |
nonsense mutation |
Utsumi (1997) |
Classic |
M |
59 |
Japanese |
|
|
2113
|
1069 |
7 |
c.1069C>T |
Q357X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2114
|
1069 |
7 |
c.1069C>T |
Q357X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
2115
|
1069 |
7 |
c.1069C>T |
Q357X |
nonsense mutation |
Utsumi (2009) |
Classic |
M |
35 |
Japanese |
|
|
2116
|
1069 |
7 |
c.1069C>T |
Q357X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
2117
|
1069 |
7 |
c.1069 |
Q357A |
missense mutation |
Branton (2002) |
|
M |
35 |
|
0.037 |
|
2118
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Miyazaki (1998) |
Classic |
M |
19 |
Japanese |
0.293 |
|
2119
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.293 |
|
2120
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Wu (2011) |
|
|
|
|
0.293 |
|
2121
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Germain (2002) |
Classic |
M |
39 |
French |
0.293 |
|
2122
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.293 |
|
2123
|
1072 |
7 |
c.1072G>A |
E358K |
missense mutation |
Tsuboi (2012) |
|
|
|
|
0.293 |
|
2124
|
1072 |
7 |
c.1072G>T |
E358X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2125
|
1072 |
7 |
c.1072_1074delGAG |
|
deletion |
Blanch (1996) |
Classic |
M |
|
|
|
|
2126
|
1073 |
7 |
c.1073A>C |
E358A |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.091 |
|
2127
|
1073 |
7 |
c.1073A>C |
E358A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.091 |
|
2128
|
1073 |
7 |
c.1073A>C |
E358A |
missense mutation |
Wu (2011) |
|
|
|
|
0.091 |
|
2129
|
1073 |
7 |
c.1073A>C |
E358A |
missense mutation |
Shabbeer (2005) |
Hetero |
F |
|
|
0.091 |
|
2130
|
1073 |
7 |
c.1073A>G |
E358G |
missense mutation |
Germain (2002) |
Classic |
M |
41 |
West Indian |
0.083 |
|
2131
|
1073 |
7 |
c.1073A>G |
E358G |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.083 |
|
2132
|
1074 |
7 |
c.1074_1075delGA |
|
deletion |
Ploos van Amstel (1994) |
|
|
|
|
|
|
2133
|
1076 |
7 |
c.1076T>C |
I359T |
missense mutation |
Kakita (2010) |
|
|
|
|
0.008 |
|
2134
|
1076 |
7 |
c.1076T>C |
I359T |
missense mutation |
Mechtler (2012) |
Unknown |
M |
|
|
0.008 |
|
2135
|
1077 |
7 |
c.1077delT |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
|
2136
|
1077 |
7 |
c.1077_1120del44 |
|
deletion |
Pan (2016) |
Classic |
M |
23 |
|
|
v3.5.1 |
2137
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Lin (2007) |
|
|
|
|
0.024 |
|
2138
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Hwu (2009) |
|
|
|
Taiwanese |
0.024 |
|
2139
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Liao (2015) |
suggest Fabry disease |
|
newborn |
Taiwanese |
0.024 |
|
2140
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Lin (2009) |
Hetero |
F |
|
|
0.024 |
|
2141
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Lin (2009) |
Unknown |
M |
|
|
0.024 |
|
2142
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.024 |
|
2143
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.024 |
|
2144
|
1078 |
7 |
c.1078G>T |
G360C |
missense mutation |
Liao (2014) |
Classic |
|
newborn |
Taiwanese |
0.024 |
|
2145
|
1078 |
7 |
c.1078G>A |
G360S |
missense mutation |
Dobrovolny (2005) |
Classic |
|
|
Czech and Slovak |
0.025 |
|
2146
|
1078 |
7 |
c.1078G>C + c.1067G>A |
G360R + R356Q |
missense mutation |
Marisa(2019) |
Classic |
M |
60 |
Portuguese |
|
v3.5 |
2147
|
1079 |
7 |
c.1079G>A |
G360D |
missense mutation |
Mignani (2008) |
|
M |
25 |
|
0.084 |
|
2148
|
1080 |
7 |
c.1080_1082delTGG |
|
deletion |
Pan (2016) |
Classic |
|
|
|
|
v3.5.1 |
2149
|
1081 |
7 |
c.1081G>C |
G361R |
missense mutation |
Davies (1993) |
Classic |
|
|
English |
0.017 |
|
2150
|
1081 |
7 |
c.1081G>C |
G361R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.017 |
|
2151
|
1081 |
7 |
c.1081G>C |
G361R |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.017 |
|
2152
|
1081 |
7 |
c.1081G>C |
G361R |
missense mutation |
Eng (1994)_2 |
Classic |
|
|
English |
0.017 |
|
2153
|
1081 |
7 |
c.1081G>T |
G361X |
nonsense mutation |
Lee (2014) |
Classic |
F |
|
Taiwanese |
|
|
2154
|
1081 |
7 |
c.1081_1100del20 |
|
deletion |
Germain (1996) |
Classic |
M |
20 |
|
|
|
2155
|
1082 |
7 |
c.1082G>C |
G361A |
missense mutation |
Sirrs (2010) |
|
|
|
|
0.011 |
|
2156
|
1082 |
7 |
c.1082G>A |
G361E |
missense mutation |
Kobayashi (2019) |
Classic |
M |
|
Japanese |
0.258 |
v3.5 |
2157
|
1082 |
7 |
c.1082delG |
|
deletion |
Pan (2016) |
Hetero |
F |
|
|
|
v3.5.1 |
2158
|
1084 |
7 |
c.1084C>A |
P362T |
missense mutation |
Liao (2014) |
|
|
newborn |
Taiwanese |
0.006 |
|
2159
|
1084 |
7 |
c.1084C>A |
P362T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.006 |
|
2160
|
1084 |
7 |
c.1084C>A |
P362T |
VUS? |
Liao (2018) |
VUS? |
M |
newborn |
Taiwanese |
0.006 |
v3.5.1 |
2161
|
1085 |
7 |
c.1085C>T |
P362L |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.022 |
|
2162
|
1085 |
7 |
c.1085_1088dupCTCG |
|
duplication |
Sawada(2020) |
Classic |
M |
33 |
Japanese |
|
v3.5 |
2163
|
1086 |
7 |
c.1086_1098del13 |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
2164
|
1085 |
7 |
c.1085_1098del14 |
|
deletion |
Savostyanov (2015) |
Classic |
|
|
|
|
v3.5.1 |
2165
|
1087 |
7 |
c.1087C>T |
R363C |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.252 |
|
2166
|
1087 |
7 |
c.1087C>T |
R363C |
missense mutation |
Wu (2011) |
|
|
|
|
0.252 |
|
2167
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Cooper (2000) |
|
|
|
|
0.085 |
the full paper was not found |
2168
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Lukas (2013) |
Classic/Variant |
|
|
|
0.085 |
|
2169
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Wu (2011) |
|
|
|
|
0.085 |
|
2170
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.085 |
|
2171
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Auray-Blais (2015) |
Atypical phenotype |
M |
Children |
|
0.085 |
|
2172
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Blaydon (2001) |
|
|
|
|
0.085 |
|
2173
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.085 |
|
2174
|
1088 |
7 |
c.1088G>A |
R363H |
missense mutation |
Serebrinsky (2015) |
Later-Onset |
M |
40 |
|
0.085 |
|
2175
|
1088 |
7 |
c.1088G>C |
R363P |
missense mutation |
Vujasinovic (2015) |
|
M |
49 |
|
0.257 |
v3.5 |
2176
|
1088 |
7 |
c.1088delG |
|
deletion |
Davies (1996) |
Classic |
|
|
British |
|
|
2177
|
1091 |
7 |
c.1091_1092delCT |
|
deletion |
Torricelli (2001) |
Classic |
|
|
|
|
v3.5.1 |
2178
|
1093 |
7 |
c.1093dupT |
|
duplication |
Eng (1997) |
|
|
|
|
|
|
2179
|
1095 |
7 |
c.1095T>A |
Y365X |
nonsense mutation |
Miyamura (1996) |
Classic |
M |
29 |
Japanese |
|
|
2180
|
1095 |
7 |
c.1095T>A |
Y365X |
nonsense mutation |
Morrone (2003) |
Classic |
M |
14 |
Italian |
|
|
2181
|
1095 |
7 |
c.1095T>A |
Y365X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2182
|
1095 |
7 |
c.1095T>A |
Y365X |
nonsense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
|
|
2183
|
1095 |
7 |
c.1095T>A |
Y365X |
nonsense mutation |
Sadick (2007) |
|
M |
45 |
|
|
|
2184
|
1095 |
7 |
c.1095T>G |
Y365X |
nonsense mutation |
Sakuraba (2018) |
Hetero |
F |
8 |
Japanese |
|
v3.5 |
2185
|
1095 |
7 |
c.1095delT |
|
deletion |
Batista (2011) |
|
|
|
|
|
|
2186
|
1096 |
7 |
c.1096_1100delACCAT |
|
deletion |
Shabbeer (2005) |
|
|
|
|
|
|
2187
|
1098 |
7 |
c.1098delC |
|
deletion |
Pan (2016) |
Classic |
M |
33 |
|
|
v3.5.1 |
2188
|
1100 |
7 |
c.1100dupT |
|
duplication |
Sawada(2020) |
Classic |
M |
19 |
Japanese |
|
v3.5 |
2189
|
1102 |
7 |
c.1102G>A |
A368T |
missense mutation |
Lukas (2013) |
|
|
|
|
0.012 |
|
2190
|
1102 |
7 |
c.1102G>A |
A368T |
missense mutation |
Pereira (2014) |
|
|
|
|
0.012 |
|
2191
|
1102 |
7 |
c.1102G>A |
A368T |
VUS? |
Varela (2020) |
VUS? |
|
|
|
0.012 |
v3.5.1 |
2192
|
1102 |
7 |
c.1102delGinsTTATAC |
|
indel |
Rodriguez-Mari (2003) |
Classic |
|
|
Spanish |
|
|
2193
|
1115 |
7 |
c.1115T>G |
L372R |
missense mutation |
Dobrovolny (2008) |
Classic |
|
|
|
0.151 |
the full paper was not found |
2194
|
1115 |
7 |
c.1115T>G |
L372R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.151 |
|
2195
|
1115 |
7 |
c.1115T>A |
L372Q |
missense mutation |
Utsumi (2009) |
Classic |
M |
41 |
Japanese |
0.084 |
|
2196
|
1115 |
7 |
c.1115T>C |
L372P |
missense mutation |
Ebrahim (2012) |
|
M |
|
|
0.278 |
|
2197
|
1115 |
7 |
c.1115T>C |
L372P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.278 |
|
2198
|
1117 |
7 |
c.1117G>C |
G373R |
missense mutation |
Kwan (2007) |
|
|
|
|
0.144 |
the full paper was not found |
2199
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Okumiya (1995) |
Classic |
M |
|
Japanese |
0.004 |
|
2200
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.004 |
|
2201
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.004 |
|
2202
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Ishii (2007) |
Classic |
|
|
|
0.004 |
|
2203
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Takata (1997) |
Classic |
|
|
|
0.004 |
|
2204
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Auray-Blais (2015) |
Classic |
M |
Children |
|
0.004 |
|
2205
|
1117 |
7 |
c.1117G>A |
G373S |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.004 |
|
2206
|
1117 |
7 |
c.1117_1141del25 |
|
deletion |
Kwon (2018) |
Classic |
M |
11 |
Korean |
|
v3.5 |
2207
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Germain (2001)_2 |
Classic |
M |
22 |
French |
0.116 |
|
2208
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.116 |
|
2209
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Lukas (2013) |
|
|
|
|
0.116 |
|
2210
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.116 |
|
2211
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.116 |
|
2212
|
1118 |
7 |
c.1118G>A |
G373D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.116 |
|
2213
|
1121 |
7 |
c.1121_1123delAAG |
|
deletion |
Shabbeer (2006) |
|
|
|
|
|
|
2214
|
1122 |
7 |
c.1122_1125delAGGA |
|
deletion |
Serebrinsky (2008) |
Classic |
|
|
|
|
v3.5.1 |
2215
|
1124 |
7 |
c.1124G>C |
G375A |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.011 |
v3.5 |
2216
|
1124 |
7 |
c.1124G>A |
G375E |
missense mutation |
Iwafuchi (2017) |
Hetero |
F |
20 |
Japanese |
0.042 |
v3.5 |
2217
|
1130 |
7 |
c.1130C>A |
A377D |
missense mutation |
Blaydon (2001) |
Classic |
|
|
European |
0.101 |
|
2218
|
1130 |
7 |
c.1130C>A |
A377D |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.101 |
|
2219
|
1132 |
7 |
c.1132T>C |
C378R |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.202 |
|
2220
|
1132 |
7 |
c.1132T>C |
C378R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.202 |
|
2221
|
1133 |
7 |
c.1133G>A |
C378Y |
missense mutation |
Topaloglu (1999) |
Hetero |
F |
|
|
0.218 |
|
2222
|
1133 |
7 |
c.1133G>A |
C378Y |
missense mutation |
Morrone (2003) |
Classic |
M |
12 |
Italian |
0.218 |
|
2223
|
1133 |
7 |
c.1133G>A |
C378Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.218 |
|
2224
|
1133 |
7 |
c.1133G>T |
C378F |
missense mutation |
Sakuraba (2018) |
Classic |
M |
9 |
Japanese |
0.152 |
v3.5 |
2225
|
1139 |
7 |
c.1139delC |
|
deletion |
Ashton-Prolla (2000) |
|
Classic |
M |
|
|
|
2226
|
1145 |
7 |
c.1145G>A |
C382Y |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.203 |
|
2227
|
1145 |
7 |
c.1145G>A |
C382Y |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.203 |
|
2228
|
1145 |
7 |
c.1145_1149delGCTTC |
|
deletion |
Kwan (2007) |
|
|
|
|
|
|
2229
|
1146 |
7 |
c.1146C>G |
C382W |
missense mutation |
Galanos (2002) |
Hetero |
F |
|
Australian |
0.205 |
|
2230
|
1146 |
7 |
c.1146C>G |
C382W |
missense mutation |
Saito (2013) |
Hetero |
|
|
|
0.205 |
|
2231
|
1146 |
7 |
c.1146C>A |
C382X |
nonsense mutation |
Zizzo (2016) |
Classic |
|
|
|
|
v3.5 |
2232
|
1151 |
7 |
c.1151T>A |
I384N |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.008 |
|
2233
|
1151 |
7 |
c.1151T>A |
I384N |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.008 |
|
2234
|
1151 |
7 |
c.1151_1152delTCinsAT |
|
indel |
Schafer (2005) |
|
|
|
|
|
|
2235
|
1153 |
7 |
c.1153A>G |
T385A |
missense mutation |
Lukas (2013) |
|
|
|
|
0.016 |
|
2236
|
1153 |
7 |
c.1153A>G |
T385A |
VUS? |
Duro (2018) |
VUS? |
|
|
|
0.016 |
v3.5.1 |
2237
|
1153 |
7 |
c.1153A>C |
T385P |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.051 |
|
2238
|
1156 |
7 |
c.1156C>T |
Q386X |
nonsense mutation |
Eng (1997) |
Classic |
|
|
|
|
|
2239
|
1156 |
7 |
c.1156C>T |
Q386X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2240
|
1156 |
7 |
c.1156_1157delCA |
|
deletion |
Blaydon (2001) |
Classic |
M |
|
|
|
|
2241
|
1157 |
7 |
c.1157A>C |
Q386P |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.150 |
|
2242
|
1157 |
7 |
c.1157A>C |
Q386P |
missense mutation |
Lukas (2013) |
Classic |
|
|
|
0.150 |
|
2243
|
1160 |
7 |
c.1160T>C |
L387P |
missense mutation |
Oyanguren (2017) |
Classic |
M |
39 |
|
0.039 |
v3.5 |
2244
|
1160 |
7 |
c.1160_1161delTCinsCT |
|
indel |
Sakamaki (2014) |
Classic/Later-Onset |
M |
"45, 47" |
Japanese |
|
v3.5.1 |
2245
|
1163 |
7 |
c.1163T>A |
L388H |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.082 |
v3.5 |
2246
|
1163 |
7 |
c.1163_1165delTCC |
|
deletion |
Ferri (2018) |
Classic |
M |
11 |
|
|
v3.5.1 |
2247
|
1165 |
7 |
c.1165C>G |
P389A |
missense mutation |
van der Tol (2015) |
Later-Onset |
M |
34 |
|
0.003 |
v3.5 |
2248
|
1166 |
7 |
c.1166C>G |
P389R |
missense mutation |
Kwan (2007) |
|
|
|
|
0.275 |
the full paper was not found |
2249
|
1166 |
7 |
c.1166C>T |
P389L |
missense mutation |
Lukas (2013) |
|
|
|
|
0.005 |
|
2250
|
1167 |
7 |
c.1167dupT |
|
duplication |
Schafer (2005) |
|
|
|
|
|
|
2251
|
1168 |
7 |
c.1168G>A |
V390M |
missense mutation |
Lukas (2013) |
|
|
|
|
0.003 |
|
2252
|
1171 |
7 |
c.1171A>G |
K391E |
missense mutation |
Wakakuri (2016) |
Hetero |
F |
29 |
Japanese |
0.316 |
v3.5 |
2253
|
1171 |
7 |
c.1171A>G |
K391E |
VUS? |
Sawada(2020) |
VUS? |
M |
9 |
Japanese |
0.316 |
v3.5.1 |
2254
|
1172 |
7 |
c.1172A>C |
K391T |
missense mutation |
Lin (2010) |
|
|
|
Taiwanese |
0.113 |
|
2255
|
1172 |
7 |
c.1172A>C |
K391T |
missense mutation |
Lin (2009) |
Unknown |
M |
newborn |
Taiwanese |
0.113 |
|
2256
|
1172 |
7 |
c.1172A>C |
K391T |
missense mutation |
Lee (2014) |
|
|
|
Taiwanese |
0.113 |
|
2257
|
1172 |
7 |
c.1172A>C |
K391T |
missense mutation |
Liao (2014) |
Classic |
|
newborn |
Taiwanese |
0.113 |
|
2258
|
1172 |
7 |
c.1172A>C |
K391T |
VUS? |
Liao (2018) |
VUS? |
M |
newborn |
Taiwanese |
0.113 |
v3.5.1 |
2259
|
1176 |
7 |
c.1176G>T |
R392S |
missense mutation |
Lukas (2016) |
Hetero |
F |
|
|
0.048 |
v3.5 |
2260
|
1176 |
7 |
c.1176delG |
|
deletion |
Nampoothiri(2020) |
Classic |
M |
26 |
Indian |
|
v3.5 |
2261
|
1176 |
7 |
c.1176_1179delGAAG |
|
deletion |
Topaloglu (1999) |
Classic |
M |
|
|
|
|
2262
|
1177 |
7 |
c.1177_1178delAA |
|
deletion |
Eng (1994)_2 |
|
|
|
|
|
|
2263
|
1177 |
7 |
c.1177_1185delAAGCTAGGG |
|
deletion |
Sakuraba (2018) |
Hetero |
F |
52 |
Japanese |
|
v3.5 |
2264
|
1184 |
7 |
c.1184G>C |
G395A |
missense mutation |
Bono (2011) |
|
|
|
|
0.010 |
|
2265
|
1184 |
7 |
c.1184G>C |
G395A |
missense mutation |
Lukas (2013) |
|
|
|
|
0.010 |
|
2266
|
1184 |
7 |
c.1184G>A |
G395E |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.041 |
v3.5.1 |
2267
|
1186 |
7 |
c.1186 |
Q396X |
nonsense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
Q386X? F396 |
2268
|
1186 |
7 |
c.1186 |
F396X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
2269
|
1186 |
7 |
c.1186 |
F396X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
2270
|
1187 |
7 |
c.1187T>A |
F396Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.002 |
|
2271
|
1187 |
7 |
c.1187T>A |
F396Y |
missense mutation |
Shin (2001) |
|
|
|
|
0.002 |
|
2272
|
1187 |
7 |
c.1187dupT |
|
duplication |
Ashton-Prolla (2000) |
Classic |
M |
|
|
|
|
2273
|
1187 |
7 |
c.1187delT |
|
deletion |
Maier (2006) |
Hetero |
F |
8 |
|
|
v3.5.1 |
2274
|
1188 |
7 |
c.1188delC |
|
deletion |
Topaloglu (1999) |
Classic |
Classic |
M |
|
|
|
2275
|
1191 |
7 |
c.1191T>G |
Y397X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2276
|
1192 |
7 |
c.1192G>A |
E398K |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.183 |
|
2277
|
1192 |
7 |
c.1192G>T |
E398X |
nonsense mutation |
Eng (1993) |
Classic |
|
|
Hispanic |
|
|
2278
|
1192 |
7 |
c.1192G>T |
E398X |
nonsense mutation |
Eng (1994)_2 |
Classic |
|
|
Hispanic |
|
|
2279
|
1193 |
7 |
c.1193A>C |
E398A |
missense mutation |
Lukas (2013) |
|
|
|
|
0.034 |
|
2280
|
1194 |
7 |
c.1194delA |
|
deletion |
Tai (2012) |
|
|
|
|
|
|
2281
|
1196 |
7 |
c.1196G>C |
W399S |
missense mutation |
Lukas (2016) |
|
M |
|
|
0.003 |
v3.5 |
2282
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Eng (1997) |
Classic |
|
|
|
|
|
2283
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Lukas (2013) |
Classic |
|
|
|
|
|
2284
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Shimotori (2008) |
Classic |
|
|
Japanese |
|
|
2285
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Altarescu (2001) |
|
|
|
|
|
|
2286
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Garman (2002) |
Severe |
|
|
|
|
|
2287
|
1196 |
7 |
c.1196G>A |
W399X |
nonsense mutation |
Rosenberg (1999) |
|
|
|
|
|
|
2288
|
1197 |
7 |
c.1197G>A |
W399X |
nonsense mutation |
Moiseev (2019) |
Classic |
M |
42 |
Russian |
|
v3.5 |
2289
|
1197 |
7 |
c.1197_1202dupGACTTC |
|
duplication |
Kroepfl (2002) |
Later-Onset |
M |
29 |
|
|
v3.5.1 |
2290
|
1201 |
7 |
c.1201dupT |
|
duplication |
Schafer (2005) |
|
|
|
|
|
|
2291
|
1202 |
7 |
c.1202C>G |
S401X |
nonsense mutation |
Shabbeer (2002) |
Classic |
|
|
|
|
|
2292
|
1202 |
7 |
c.1202C>A |
S401X |
nonsense mutation |
Favalli (2016) |
|
|
|
|
|
v3.5 |
2293
|
1207 |
7 |
c.1207 |
L403X |
nonsense mutation |
Altarescu (2001) |
Classic |
|
|
|
|
|
2294
|
1207 |
7 |
c.1207 |
L403X |
nonsense mutation |
Branton (2002) |
|
|
|
|
|
|
2295
|
1208 |
7 |
c.1208T>C |
L403S |
missense mutation |
Shimotori (2008) |
|
M |
|
Japanese |
0.014 |
|
2296
|
1208 |
7 |
c.1208delT |
|
deletion |
Germain (2002) |
Classic |
|
|
French |
|
|
2297
|
1211 |
7 |
c.1211G>A |
R404K |
missense mutation |
Namazova-Baranova (2017) |
|
|
|
|
0.003 |
v3.5 |
2298
|
1212 |
7 |
c.1212_1214delAAG |
|
deletion |
Eng (1993) |
Later-Onset |
|
|
|
|
|
2299
|
1212 |
7 |
c.1212_1214delAAG |
|
deletion |
Eng (1997) |
Classic |
|
|
|
|
v3.5.1 |
2300
|
1213 |
7 |
c.1213A>C |
S405R |
missense mutation |
Lukas (2013) |
|
|
|
|
0.124 |
|
2301
|
1215 |
7 |
c.1215_1216delTC |
|
deletion |
Dublan-Garcia (2015) |
|
|
|
|
|
v3.5.1 |
2302
|
1217 |
7 |
c.1217A>G |
H406R |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.024 |
v3.5.1 |
2303
|
1220 |
7 |
c.1220T>A |
I407K |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.169 |
|
2304
|
1220 |
7 |
c.1220T>G |
I407R |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.234 |
v3.5.1 |
2305
|
1223 |
7 |
c.1223delA |
|
deletion |
Sachdev (2002) |
|
M |
51 |
|
|
v3.5.1 |
2306
|
1223 |
7 |
c.1223delA |
|
deletion |
Lukas (2013) |
|
|
|
|
|
v3.5.1 |
2307
|
1224 |
7 |
c.1224_1289del66 |
|
deletion |
Militaru (2018) |
Hetero |
F |
|
|
|
v3.5 |
2308
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Blaydon (2001) |
Classic |
M |
|
European |
0.049 |
|
2309
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.049 |
|
2310
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Wu (2011) |
|
|
|
|
0.049 |
|
2311
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Germain (2002) |
Classic |
M |
29 |
British |
0.049 |
|
2312
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Shabbeer (2002) |
Classic |
|
|
|
0.049 |
|
2313
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.049 |
|
2314
|
1225 |
7 |
c.1225C>G |
P409A |
missense mutation |
Laaksonen (2008) |
Hetero |
F |
18 |
|
0.049 |
|
2315
|
1225 |
7 |
c.1225C>T |
P409S |
missense mutation |
Germain (2002) |
Classic |
M |
38 |
British |
0.024 |
|
2316
|
1225 |
7 |
c.1225C>T |
P409S |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.024 |
|
2317
|
1225 |
7 |
c.1225C>T |
P409S |
missense mutation |
Tahir (2007) |
Classic |
M |
35 |
|
0.024 |
|
2318
|
1225 |
7 |
c.1225C>A |
P409T |
missense mutation |
Blaydon (2001) |
Hetero |
F |
|
European |
0.078 |
|
2319
|
1225 |
7 |
c.1225C>A |
P409T |
missense mutation |
Saito (2013) |
Hetero |
F |
|
|
0.078 |
|
2320
|
1225 |
7 |
c.1225C>A |
P409T |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.078 |
|
2321
|
1228 |
7 |
c.1228A>G |
T410A |
missense mutation |
Yang (2003) |
Mild |
M |
12 |
Chinese |
0.005 |
|
2322
|
1228 |
7 |
c.1228A>G |
T410A |
missense mutation |
Andreotti (2011) |
Variant |
|
|
|
0.005 |
|
2323
|
1228 |
7 |
c.1228A>G |
T410A |
missense mutation |
Saito (2013) |
Later-Onset |
|
|
|
0.005 |
|
2324
|
1228 |
7 |
c.1228A>G |
T410A |
missense mutation |
Lee (2014) |
Classic |
|
|
Taiwanese |
0.005 |
|
2325
|
1228 |
7 |
c.1228A>C |
T410P |
missense mutation |
Shimotori (2008) |
Classic |
M |
10 |
Japanese |
0.089 |
|
2326
|
1228 |
7 |
c.1228A>C |
T410P |
missense mutation |
Saito (2013) |
Classic |
|
|
|
0.089 |
|
2327
|
1229 |
7 |
c.1229C>T |
T410I |
missense mutation |
Ebrahim (2012) |
|
|
|
|
0.032 |
|
2328
|
1229 |
7 |
c.1229C>T |
T410I |
missense mutation |
Lukas (2013) |
|
|
|
|
0.032 |
|
2329
|
1229 |
7 |
c.1229C>A |
T410K |
missense mutation |
Ashley (2001) |
Classic |
M |
|
|
0.085 |
|
2330
|
1229 |
7 |
c.1229C>A |
T410K |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.085 |
|
2331
|
1231 |
7 |
c.1231G>A |
G411S |
VUS? |
Sawada(2020) |
VUS? |
M |
1 |
Japanese |
0.013 |
v3.5 |
2332
|
1232 |
7 |
c.1232G>A |
G411D |
missense mutation |
Guffon (2003) |
Hetero |
F |
|
|
0.068 |
with D313Y |
2333
|
1232 |
7 |
c.1232G>A |
G411D |
missense mutation |
Froissart (2003) |
|
|
|
|
0.068 |
no description about phenotype in the source paper |
2334
|
1232 |
7 |
c.1232G>A |
G411D |
missense mutation |
Yasuda (2003) |
Classic |
M |
|
|
0.068 |
with D313Y |
2335
|
1232 |
7 |
c.1232G>A |
G411Y |
missense mutation |
Guffon (1998) |
Classic |
M |
10 |
French |
0.175 |
with D313Y |
2336
|
1232 |
7 |
c.1232G>A |
G411Y |
missense mutation |
Garman (2002) |
Severe |
|
|
|
0.175 |
|
2337
|
1235 |
7 |
c.1235C>A |
T412N |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.025 |
v3.5.1 |
2338
|
1235 |
7 |
c.1235_1236delCT |
|
deletion |
Blaydon (2001) |
Classic |
M |
|
|
|
|
2339
|
1240 |
7 |
c.1240_1241delTT |
|
deletion |
B_ttcher (2013) |
Hetero |
F |
38 |
|
|
v3.5.1 |
2340
|
1241 |
7 |
c.1241T>C |
L414S |
missense mutation |
Rodriguez-Mari (2003) |
Classic |
M |
|
Spanish |
0.003 |
|
2341
|
1241 |
7 |
c.1241T>C |
L414S |
missense mutation |
Shabbeer (2006) |
Classic |
|
|
|
0.003 |
|
2342
|
1241 |
7 |
c.1241T>C |
L414S |
missense mutation |
Shabbeer (2005) |
|
M |
|
|
0.003 |
|
2343
|
1243 |
7 |
c.1243C>T |
L415F |
missense mutation |
Lukas (2013) |
|
|
|
|
0.009 |
|
2344
|
1243 |
7 |
c.1243C>T |
L415F |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.009 |
|
2345
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Serebrinsky (2006) |
|
|
|
|
0.039 |
the full paper was not found |
2346
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Andreotti (2011) |
|
|
|
|
0.039 |
|
2347
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.039 |
|
2348
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Shin (2008) |
Classic |
|
|
|
0.039 |
|
2349
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Rozenfeld (2006) |
Classic |
M |
32 |
Argentina |
0.039 |
|
2350
|
1244 |
7 |
c.1244T>C |
L415P |
missense mutation |
Wu (2011) |
|
|
|
|
0.039 |
|
2351
|
1244 |
7 |
c.1244T>G |
L415R |
missense mutation |
Romani (2015) |
|
|
|
Italian |
0.095 |
v3.5 |
2352
|
1246 |
7 |
c.1246C>T |
Q416X |
nonsense mutation |
Bouwman (2013) |
|
|
|
|
|
|
2353
|
1246 |
7 |
c.1246C>T |
Q416X |
nonsense mutation |
Lukas (2013) |
|
|
|
|
|
|
2354
|
1247 |
7 |
c.1247A>C |
Q416P |
missense mutation |
Lukas (2013) |
|
|
|
|
0.048 |
|
2355
|
1250 |
7 |
c.1250T>C |
L417P |
missense mutation |
Sakuraba (2018) |
Classic |
M |
55 |
Japanese |
0.022 |
v3.5 |
2356
|
1254 |
7 |
c.1254A>G |
E418G |
missense mutation |
Lukas (2013) |
|
|
|
|
0.041 |
|
2357
|
1254 |
7 |
c.1254A>G |
E418G |
missense mutation |
Rolfs (2013) |
|
|
|
|
0.041 |
|
2358
|
1261 |
7 |
c.1261A>G |
M421V |
missense mutation |
Benjamin (2017) |
|
|
|
|
0.020 |
v3.5.1 |
2359
|
1277 |
7 |
c.1277_1278delAA |
|
deletion |
Yasuda2 (2003) |
|
|
|
|
|
v3.5.1 |
2360
|
1284 |
7 |
c.1284_1287delACTT |
|
deletion |
Yasuda2 (2003) |
|
|
|
|
|
v3.5.1 |
2361
|
1285 |
7 |
c.1285delC |
|
deletion |
Barbey (2019) |
Classic |
M |
61 |
|
|
v3.5 |