Fabry mutants list


keyword:

id cid exon coding_DNA mutation type source_id phenotype gender age origin rmsd remark
id cid exon coding_DNA mutation type source_id phenotype gender age origin rmsd remark
1 1 1 c.1A>G M1V missense mutation Kwan (2007) the full paper was not found
2 2 1 c.2T>G M1R missense mutation Shabbeer (2002) Classic
3 2 1 c.2T>A M1K missense mutation Dobrovolny (2008) the full paper was not found
4 2 1 c.2T>C M1T missense mutation Eng (1997) Classic
5 2 1 c.2T>C M1T missense mutation Garman (2002) Severe
6 2 1 c.2T>C M1T missense mutation Zhang (2007)
7 2 1 c.2T>C M1T missense mutation Burlina (2008)
8 3 1 c.3G>A M1I missense mutation Blanch (1996) Classic
9 3 1 c.3G>A M1I missense mutation Kobayashi (2014) Calssic M Japanese
10 3 1 c.3G>A M1I missense mutation Garman (2002) Severe
11 4 1 c.4C>T Q2X nonsense mutation Lukas (2013)
12 4 1 c.4C>T Q2X nonsense mutation Pereira (2014)
13 16 1 c.16 P6X nonsense mutation Altarescu (2001)
14 18 1 c.18delA deletion Shabbeer (2005) classic
15 19 1 c.19G>T E7X nonsense mutation Dobrovolny (2008) the full paper was not found
16 19 1 c.19G>T E7X nonsense mutation Lukas (2013)
17 26 1 c.26delA deletion Eng (1994) classic English
18 33 1 c.33delC deletion Batista (2011)
19 35 1 c.35_47del13 deletion Topaloglu (1999)
20 41 1 c.41T>C L14P missense mutation Tse (2003) F/M Chinese
21 43 1 c.43G>C A15P missense mutation Tura_a (2012)
22 43 1 c.43G>A A15T missense mutation Ebrahim (2012)
23 44 1 c.44C>A A15E missense mutation Terryn (2013) A5E in the source paper A15E? /same as above(id=23)
24 44 1 c.44C>A A15E missense mutation Lukas (2013)
25 44 1 c.44C>G A15G missense mutation Koskenvuo (2009)
26 47 1 c.47T>C L16P missense mutation Garzuly (2005) Hungarian
27 47 1 c.47T>C L16P missense mutation Erdos (2008)
28 53 1 c.53T>G F18C missense mutation Tura_a (2012)
29 53 1 c.53T>C F18S missense mutation Auray-Blais (2008)
30 53 1 c.53T>C F18S missense mutation Bouwman (2013)
31 53 1 c.53T>C F18S missense mutation Vedder (2007) Dutch
32 56 1 c.56T>C L19P missense mutation Teraguchi (2004) F 56 Japanese
33 58 1 c.58G>C A20P missense mutation Nakao (1995) Atypical Variant Japanese
34 58 1 c.58G>C A20P missense mutation Andreotti (2011)
35 58 1 c.58G>C A20P missense mutation Ishii (2007) Variant
36 58 1 c.58G>C A20P missense mutation Takata (1997) Variant
37 58 1 c.58G>C A20P missense mutation Kawano (2007) cardiac Variant 60
38 58 1 c.58G>C A20P missense mutation Garman (2002) Mild
39 58 1 c.58G>C A20P missense mutation Lukas (2013) Classic
40 59 1 c.59_73del15 deletion Germain (2002)
41 70 1 c.70T>A W24R missense mutation Al-Thihli (2012) Hetero
42 70 1 c.70T>A W24R missense mutation Scott (2013)
43 70 1 c.70T>G W24G missense mutation Kleinert (2009) M
44 71 1 c.71G>A W24X nonsense mutation Buda (2011) M
45 71 1 c.71G>A W24X nonsense mutation Lukas (2013)
46 72 1 c.72G>T W24C missense mutation Lukas (2013)
47 85 1 c.85dupG duplication Ashley (2001)
48 92 1 c.92C>T A31V missense mutation Eng (1997) Classic
49 92 1 c.92C>T A31V missense mutation Shabbeer (2006) Classic
50 92 1 c.92C>T A31V missense mutation Garman (2002) Severe
51 95 1 c.95T>C L32P missense mutation Glass (2004) Hetero F 0.053 L31P in the source paper L32P?
52 95 1 c.95T>C L32P missense mutation Madsen (1995) Danish 0.053
53 95 1 c.95T>C L32P missense mutation Garman (2002) Severe 0.053
54 98 1 c.98A>G D33G missense mutation personal communication classic M 37 Italian 0.139 personal communication
55 101 1 c.101A>G N34S missense mutation Eng (1993) Classic Polish 0.029
56 101 1 c.101A>G N34S missense mutation Saito (2013) Classic 0.029
57 101 1 c.101A>G N34S missense mutation Wu (2011) 0.029
58 101 1 c.101A>G N34S missense mutation Altarescu (2001) 0.029
59 101 1 c.101A>G N34S missense mutation Eng (1994)_2 Classic Polish/Danish 0.029
60 101 1 c.101A>G N34S missense mutation Benjamin (2009) Classic 0.029
61 101 1 c.101A>G N34S missense mutation Glass (2004) Classic M 0.029
62 101 1 c.101A>G N34S missense mutation Garman (2002) Severe 0.029
63 101 1 c.101A>G N34S missense mutation Madsen (1995) Danish 0.029
64 101 1 c.101A>G N34S missense mutation Rosenberg (1999) 0.029
65 101 1 c.101A>G N34S missense mutation Branton (2002) 0.029
66 102 1 c.102T>G N34K missense mutation Shabbeer (2006) Classic 0.197
67 102 1 c.102T>G N34K missense mutation Saito (2013) Classic 0.197
68 103 1 c.103 G35D missense mutation Glass (2004) Hetero F 0.018 G34D in the source paper G35D?
69 103 1 c.103G>A G35R missense mutation Davies (1994) Classic 0.008
70 103 1 c.103G>A G35R missense mutation Lukas (2013) Classic 0.008
71 103 1 c.103G>A G35R missense mutation Garman (2002) Severe 0.008
72 107 1 c.107T>C L36S missense mutation Erdos (2008) 0.025
73 107 1 c.107T>C L36S missense mutation Lukas (2013) 0.025
74 108 1 c.108G>T L36F missense mutation Pereira (2007) Hetero 0.023
75 109 1 c.109G>A A37T missense mutation Sadick (2007) 0.018
76 109 1 c.109G>A A37T missense mutation Lukas (2013) 0.018
77 110 1 c.110C>T A37V missense mutation Nakamura (2010) Classic Japanese 0.045
78 117 1 c.117G>T T39T missense mutation Guffon (1998) Classic M 8 French with P40S
79 118 1 c.118C>G P40A missense mutation Koskenvuo (2009) 0.005
80 118 1 c.118C>T P40S missense mutation Koide (1990) classic M Japanese 0.032
81 118 1 c.118C>T P40S missense mutation Saito (2013) Classic 0.032
82 118 1 c.118C>T P40S missense mutation Wu (2011) 0.032
83 118 1 c.118C>T P40S missense mutation Guffon (1998) Classic M 8 French 0.032 with T39T
84 118 1 c.118C>T P40S missense mutation Eng (1994)_2 Classic Japanese 0.032
85 118 1 c.118C>T P40S missense mutation Takata (1997) Classic 0.032
86 118 1 c.118C>T P40S missense mutation Glass (2004) Classic M 0.032
87 118 1 c.118C>T P40S missense mutation Glass (2004) Hetero F 0.032
88 118 1 c.118C>T P40S missense mutation Garman (2002) Severe 0.032
89 119 1 c.119C>A P40H missense mutation Meng (2010) 0.223 the source paper was not written in English.
90 119 1 c.119C>T P40L missense mutation Ashton-Prolla (2000) Classic 0.111
91 119 1 c.119C>T P40L missense mutation Saito (2013) Classic 0.111
92 119 1 c.119C>T P40L missense mutation Morrone (2003) Classic Italian 0.111
93 119 1 c.119C>T P40L missense mutation Garman (2002) Severe 0.111
94 122 1 c.122C>T T41I missense mutation Shabbeer (2006) Classic 0.029
95 122 1 c.122C>T T41I missense mutation Wu (2011) 0.029
96 122 1 c.122C>T T41I missense mutation Shin (2008) Variant 0.029
97 123 1 c.123delC deletion Burlina (2008)
98 123 1 c.123_126dupCATG duplication Morrone (2003)
99 124 1 c.124A>C M42L missense mutation Rosenthal (2004) Atypical M 65 0.019
100 124 1 c.124A>C M42L missense mutation Shabbeer (2005) M 0.019
101 124 1 c.124A>G M42V missense mutation Davies (1996) F British 0.028
102 124 1 c.124A>G M42V missense mutation Lukas (2013) Classic 0.028
103 124 1 c.124A>G M42V missense mutation Park (2009) Classic 0.028
104 124 1 c.124A>G M42V missense mutation Saito (2013) Classic 0.028
105 124 1 c.124A>G M42V missense mutation Lee (2010) Classic Korean 0.028
106 124 1 c.124A>G M42V missense mutation Topaloglu (1999) Hetero 0.028
107 124 1 c.124A>G M42V missense mutation Garman (2002) Severe 0.028
108 124 1 c.124A>G M42V missense mutation Shimotori (2008) Classic Japanese 0.028
109 124 1 c.124_125delAT deletion Ashley (2001)
110 125 1 c.125T>G M42R missense mutation Kwan (2007) 0.087 the full paper was not found
111 125 1 c.125T>C M42T missense mutation Shabbeer (2002) Classic 0.023
112 125 1 c.125T>C M42T missense mutation Saito (2013) Classic 0.023
113 125 1 c.125_137del13 deletion Ishii (1991)
114 127 1 c.127G>C G43R missense mutation Germain (2002) Classic M 22 British 0.178
115 127 1 c.127G>C G43R missense mutation Saito (2013) Classic 0.178
116 127 1 c.127G>C G43R missense mutation Utsumi (2009) Classic M 57 Japanese 0.178
117 127 1 c.127G>C G43R missense mutation Shabbeer (2005) F 0.178
118 127 1 c.127G>A G43S missense mutation Kwan (2007) 0.049 the full paper was not found
119 127 1 c.127G>A G43S missense mutation Lukas (2013) 0.049
120 128 1 c.128G>A G43D missense mutation Iga (2001) 0.114 the full paper was not found
121 128 1 c.128G>A G43D missense mutation Shabbeer (2002) Classic 0.114
122 128 1 c.128G>A G43D missense mutation Dobrovolny (2005) Classical 0.114
123 128 1 c.128G>T G43V missense mutation Shabbeer (2002) Classic 0.126
124 128 1 c.128G>T G43V missense mutation Saito (2013) Classic 0.126
125 131 1 c.131G>A W44X nonsense mutation Sakuraba (1990) Classic Japanese
126 131 1 c.131G>A W44X nonsense mutation Okumiya (1995)_2 Classic M 16 Japanese
127 131 1 c.131G>A W44X nonsense mutation Eng (1994)_2 Classic Japanese
128 131 1 c.131G>A W44X nonsense mutation Takata (1997) Classic
129 131 1 c.131G>A W44X nonsense mutation Garman (2002) Severe
130 132 1 c.132G>T W44C missense mutation Wang (2005) 0.017 the source paper was not written in English.
131 134 1 c.134T>C L45P missense mutation Lukas (2013) 0.053
132 134 1 c.134T>G L45R missense mutation Glass (2004) Classic M 0.045 with H46S
133 134 1 c.134T>G L45R missense mutation Garman (2002) Severe 0.045 there is no mutant in the rererence paper.
134 134 1 c.134_138delTGCACinsGCTCG indel Eng (1997)
135 136 1 c.136 H46S missense mutation Glass (2004) Classic M 0.069 with L45R
136 136 1 c.136 H46S missense mutation Garman (2002) Severe 0.069 there is no mutant in the rererence paper.
137 136 1 c.136C>T H46Y missense mutation Blaydon (2001) Female European 0.088
138 136 1 c.136C>T H46Y missense mutation Blaydon (2001) Classic European 0.088
139 136 1 c.136C>T H46Y missense mutation Saito (2013) Hetero 0.088
140 136 1 c.136C>T H46Y missense mutation Siekierska (2012) 0.088
141 136 1 c.136C>T H46Y missense mutation Shabbeer (2002) Classic 0.088
142 136 1 c.136C>T H46Y missense mutation Garman (2002) Severe 0.088
143 136 1 c.136C>T H46Y missense mutation Wu (2011) 0.088
144 137 1 c.137A>G H46R missense mutation Eng (1997) Classic 0.043
145 137 1 c.137A>G H46R missense mutation Saito (2013) Classic 0.043
146 137 1 c.137A>G H46R missense mutation Wu (2011) 0.043
147 137 1 c.137A>G H46R missense mutation Lee (2010) Classic Korean 0.043
148 137 1 c.137A>G H46R missense mutation Garman (2002) Severe 0.043
149 137 1 c.137A>G H46R missense mutation Koskenvuo (2009) 0.043
150 137 1 c.137A>G H46R missense mutation Laaksonen (2008) 0.043
151 137 1 c.137A>T H46L missense mutation Tsuboi (2012) 0.057
152 137 1 c.137A>C H46P missense mutation Hwu (2009) Taiwan 0.076
153 137 1 c.137A>C H46P missense mutation Lukas (2013) 0.076
154 139 1 c.139T>G W47G missense mutation Blaydon (2001) F European 0.024
155 139 1 c.139T>G W47G missense mutation Garman (2002) Severe 0.024
156 140 1 c.140G>T W47L missense mutation Cooper (2000) 0.014 the full paper was not found
157 141 1 c.141G>A W47X nonsense mutation Batista (2011)
158 141 1 c.141G>A W47X nonsense mutation Lee (2010) Classic Korean
159 142 1 c.142G>A E48K missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.127
160 144 1 c.144G>T E48D missense mutation Kwan (2007) 0.053 the full paper was not found
161 145 1 c.145C>T R49C missense mutation Shin (2008) Classic 0.109
162 145 1 c.145C>T R49C missense mutation Lukas (2013) 0.109
163 145 1 c.145C>T R49C missense mutation Saito (2013) Classic 0.109
164 145 1 c.145C>G R49G missense mutation Germain (2002) Classic M 57 French 0.168
165 145 1 c.145C>G R49G missense mutation Lukas (2013) Classic 0.168
166 145 1 c.145C>G R49G missense mutation Saito (2013) Classic 0.168
167 145 1 c.145C>A R49S missense mutation Davies (1996) F British 0.251
168 145 1 c.145C>A R49S missense mutation Saito (2013) Classic 0.251
169 145 1 c.145C>A R49S missense mutation Garman (2002) Severe 0.251
170 146 1 c.146G>T R49L missense mutation Davies (1994) Classic 0.201
171 146 1 c.146G>T R49L missense mutation Saito (2013) Classic 0.201
172 146 1 c.146G>T R49L missense mutation Wu (2011) 0.201
173 146 1 c.146G>T R49L missense mutation Garman (2002) Severe 0.201
174 146 1 c.146G>C R49P missense mutation Blaydon (2001) Classic European 0.125
175 146 1 c.146G>C R49P missense mutation Saito (2013) Classic 0.125
176 146 1 c.146G>C R49P missense mutation Germain (2002) Classic M 24 British 0.125
177 146 1 c.146G>C R49P missense mutation Garman (2002) Severe 0.125
178 149 1 c.149T>G F50C missense mutation Shabbeer (2002) Classic 0.014
179 149 1 c.149T>G F50C missense mutation Wu (2011) 0.014
180 152 1 c.152T>A M51K missense mutation Ashley (2001) Classic M 0.134
181 152 1 c.152T>A M51K missense mutation Lukas (2013) Classic 0.134
182 152 1 c.152T>A M51K missense mutation Wu (2011) 0.134
183 152 1 c.152T>A M51K missense mutation Shin (2008) Variant 0.134
184 152 1 c.152T>A M51K missense mutation Altarescu (2001) 0.134
185 152 1 c.152T>A M51K missense mutation Glass (2004) Classic M 0.134
186 152 1 c.152T>A M51K missense mutation Garman (2002) Severe 0.134
187 152 1 c.152T>A M51K missense mutation Branton (2002) 0.134
188 153 1 c.153G>A M51I missense mutation Spada (2006) Later-onset ? newborn Italian 0.007
189 153 1 c.153G>A M51I missense mutation Andreotti (2011) 0.007
190 153 1 c.153G>A M51I missense mutation Cammarata (2015) Italian 0.007
191 153 1 c.153G>A M51I missense mutation Lukas (2013) Variant 0.007
192 153 1 c.153G>A M51I missense mutation Ferri (2012) 0.007
193 154 1 c.154T>C C52R missense mutation Blanch (1996) Classic 0.136
194 154 1 c.154T>C C52R missense mutation Saito (2013) Classic 0.136
195 154 1 c.154T>C C52R missense mutation Garman (2002) Severe 0.136
196 154 1 c.154T>C C52R missense mutation Germain (1996) M 0.136
197 154 1 c.154T>G C52G missense mutation Cruz (2011) 0.003 the source paper was not written in English.
198 154 1 c.154delT deletion Blaydon (2001) Hetero European
199 155 1 c.155G>C C52S missense mutation Eng (1994) Classic Polish 0.022
200 155 1 c.155G>C C52S missense mutation Saito (2013) Classic 0.022
201 155 1 c.155G>C C52S missense mutation Garman (2002) Severe 0.022
202 155 1 c.155G>A C52Y missense mutation Filoni (2010) Classic M 27` Italian 0.073
203 155 1 c.155G>A C52Y missense mutation Andreotti (2011) 0.073
204 155 1 c.155G>A C52Y missense mutation Rigoldi (2014) 0.073
205 155 1 c.155G>A C52Y missense mutation Saito (2013) Classic 0.073
206 156 1 c.156C>A C52X nonsense mutation Topaloglu (1999) Hetero
207 156 1 c.156C>A C52X nonsense mutation Garman (2002) Severe
208 156 1 c.156C>G C52W missense mutation Lukas (2013) 0.035
209 157 1 c.157A>G N53D missense mutation Tai (2012) 0.039
210 157 1 c.157A>G N53D missense mutation Lee (2014) Taiwan 0.039
211 161 1 c.161T>C L54P missense mutation Auray-Blais (2008) 0.022
212 162 1 c.162delT deletion Schafer (2005)
213 164 1 c.164_170delACTGCCAinsTCTGCCT indel Benjamin (2009)
214 166 1 c.166T>G C56G missense mutation Eng (1993) Classic English 0.131
215 166 1 c.166T>G C56G missense mutation Saito (2013) Classic 0.131
216 166 1 c.166T>G C56G missense mutation Eng (1994)_2 Classic 0.131
217 166 1 c.166T>G C56G missense mutation Glass (2004) Classic M 0.131
218 166 1 c.166T>G C56G missense mutation Garman (2002) Severe 0.131
219 166 1 c.166 C56S missense mutation personal communication classic M 24 Spanish-Aborigin 0.018 personal communication
220 167 1 c.167G>T C56F missense mutation Eng (1994) Classic German 0.128
221 167 1 c.167G>T C56F missense mutation Saito (2013) Classic 0.128
222 167 1 c.167G>T C56F missense mutation Garman (2002) Severe 0.128
223 167 1 c.167G>A C56Y missense mutation Davies (1996) F British 0.132
224 167 1 c.167G>A C56Y missense mutation Lukas (2013) 0.132
225 167 1 c.167G>A C56Y missense mutation Saito (2013) Classic 0.132
226 167 1 c.167G>A C56Y missense mutation Rigoldi (2014) Classic M Spanish 0.132
227 168 1 c.168C>A C56X nonsense mutation Shabbeer (2005) F
228 168 1 c.168C>A C56X nonsense mutation Shabbeer (2006) Classic
229 175 1 c.175G>A E59K missense mutation Eng (1994) Classic Italian 0.219
230 175 1 c.175G>A E59K missense mutation Ishii (2007) Classic 0.219
231 175 1 c.175G>A E59K missense mutation Lukas (2013) Classic 0.219
232 175 1 c.175G>A E59K missense mutation Garman (2002) Severe 0.219
233 175 1 c.175G>A E59K missense mutation Mignani (2008) 0.219
234 175 1 c.175G>A E59K missense mutation Wu (2011) 0.219
235 179 1 c.179C>T P60L missense mutation Vedder (2007) Dutch 0.030
236 179 1 c.179C>T P60L missense mutation Smid (2015) M/F 0.030
237 181 1 c.181_182dupGA duplication Lee (2010)
238 184 1 c.184delT deletion Burlina (2008)
239 188 1 c.188G>A C63Y missense mutation Schafer (2005) 0.079
240 188 1 c.188G>A C63Y missense mutation Lukas (2013) 0.079
241 194 1 c.194G>T S65I missense mutation Lukas (2013) 0.074
242 194 1 c.194G>C S65T missense mutation Lee (2014) Taiwan 0.148
243 194 1 c.194G>C S65T missense mutation Garman (2002) Mild 0.148
244 194 1 c.194G>C S65T missense mutation Andreotti (2011) 0.148
245 194 1 c.194G>C S65T missense mutation Chen (1998) 0.148
246 194 1 c.194+2T>C splicing Dobrovolny (2005)
247 195 2 c.195-1G>A splicing Meng (2010)
248 195 2 c.195-1G>T splicing Okumiya (1996)
249 196 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)
250 196 2 c.196G>C E66Q missense mutation Ishii (2007) Variant 0.048
251 196 2 c.196G>C E66Q polymorphism? Doi (2012) non-pathogenic? Japanese 0.048
252 196 2 c.196G>C E66Q missense mutation? Hwu (2009) later onset? Taiwan 0.048
253 196 2 c.196G>C E66Q polymorphism? Saito (2013) non-pathogenic? 0.048
254 196 2 c.196G>C E66Q missense mutation Park (2009) Classical 0.048
255 196 2 c.196G>C E66Q polymorphism? Lee (2010) non-pathogenic? Korean 0.048
256 196 2 c.196G>C E66Q missense mutation? Nakamura (2010) cerebrovascular variant Japanese 0.048
257 196 2 c.196G>C E66Q missense mutation Eng (1994)_2 Classical Japanese 0.048
258 196 2 c.196G>C E66Q missense mutation Takata (1997) 0.048
259 196 2 c.196G>C E66Q missense mutation Garman (2002) Severe 0.048
260 196 2 c.196G>C E66Q missense mutation Nishino (2012) 0.048
261 196 2 c.196G>C E66Q missense mutation Shimotori (2008) Classic Japanese 0.048
262 196 2 c.196G>C E66Q missense mutation Wu (2011) 0.048
263 196 2 c.196G>C E66Q polymorphism? Togawa (2012) non-pathogenic? Japanese/Korean 0.048
264 196 2 c.196G>C E66Q polymorphism? Kobayashi (2012) non-pathogenic? 0.048
265 196 2 c.196G>A E66K missense mutation Schafer (2005) 0.360
266 196 2 c.196G>A E66K missense mutation Lukas (2013) Classic 0.360
267 196 2 c.196G>A E66K missense mutation Saito (2013) Classic 0.360
268 197 2 c.197A>G E66G missense mutation Spada (2006) Later-onset ? newborn Italian 0.062
269 197 2 c.197A>G E66G missense mutation Saito (2013) Classic 0.062
270 202 2 c.202C>T L68F missense mutation Shabbeer (2002) Classic 0.049
271 202 2 c.202C>T L68F missense mutation Lukas (2013) Classic 0.049
272 214 2 c.214A>G M72V missense mutation Okumiya (1998) Atypical M Japanese 0.026
273 214 2 c.214A>G M72V missense mutation Andreotti (2011) 0.026
274 214 2 c.214A>G M72V missense mutation Ishii (2007) Variant 0.026
275 214 2 c.214A>G M72V missense mutation Saito (2013) Later-onset 0.026
276 214 2 c.214A>G M72V missense mutation Takata (1997) Asymptomatic 0.026
277 214 2 c.214A>G M72V missense mutation Garman (2002) Severe 0.026
278 215 2 c.215T>G M72R missense mutation Slee (2000) 0.119 the source paper was not written in English.
279 215 2 c.215T>G M72R missense mutation Saito (2013) Classic 0.119
280 215 2 c.215T>G M72R missense mutation Garman (2002) Severe 0.119
281 216 2 c.216G>A M72I missense mutation Germain (2002) Classic M 61 French 0.054
282 216 2 c.216G>A M72I missense mutation Saito (2013) Classic 0.054
283 217 2 c.217_228del12ins8 indel Eng (1997)
284 218 2 c.218C>A A73E missense mutation Nishino (2012) 0.068
285 218 2 c.218C>T A73V missense mutation Spada (2006) Later-onset ? newborn Italian 0.037
286 218 2 c.218C>T A73V missense mutation Lukas (2013) Variant 0.037
287 227 2 c.227T>C M76T missense mutation Shimotori (2008) Classic Japanese 0.008
288 233 2 c.233C>G S78X nonsense mutation Guffon (1998) Classic M 10 French
289 233 2 c.233C>G S78X nonsense mutation Guffon (2003) Hetero
290 233 2 c.233C>G S78X nonsense mutation Morrone (2003) Classic Italian
291 233 2 c.233C>G S78X nonsense mutation Garman (2002) Severe
292 233 2 c.233C>G S78X nonsense mutation Mignani (2008)
293 235 2 c.235G>T E79X nonsense mutation Takata (1997) Classic Japanese
294 235 2 c.235G>T E79X nonsense mutation Xiong (2015) no description about phenotype in the source paper
295 235 2 c.235G>T E79X nonsense mutation Shabbeer (2006) Classic
296 235 2 c.235G>T E79X nonsense mutation Garman (2002) Severe
297 235 2 c.235G>T E79X nonsense mutation Shabbeer (2005) F
298 241 2 c.241T>C W81R missense mutation Burlina (2008) 0.133
299 242 2 c.242G>C W81S missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.049
300 242 2 c.242G>A W81X nonsense mutation Eng (1994) Classic Irish
301 242 2 c.242G>A W81X nonsense mutation Xiong (2015) no description about phenotype in the source paper
302 242 2 c.242G>A W81X nonsense mutation Guffon (1998) M 14 French
303 242 2 c.242G>A W81X nonsense mutation Shabbeer (2002) Classic
304 242 2 c.242G>A W81X nonsense mutation Glass (2004) Classic M
305 242 2 c.242G>A W81X nonsense mutation Garman (2002) Severe
306 243 2 c.243G>C W81C missense mutation Kwan (2007) 0.051 the full paper was not found
307 244 2 c.244A>T K82X nonsense mutation Dobrovolny (2008) the full paper was not found
308 244 2 c.244A>T K82X nonsense mutation Lukas (2013)
309 244 2 c.244A>T K82X nonsense mutation Xiong (2015) no description about phenotype in the source paper
310 247 2 c.247G>A D83N missense mutation Lukas (2013) Variant 0.049
311 247 2 c.247G>A D83N missense mutation Herrera (2014) F 0.049
312 247 2 c.247G>A D83N missense mutation Rolfs (2013) 0.049
313 253 2 c.253G>A G85S missense mutation Sirrs (2010) 0.022
314 254 2 c.253GG>AA G85N missense mutation Garman (2002) Severe 0.024
315 254 2 c.253GG>AA G85N missense mutation Madsen (1995) Danish 0.024
316 256 2 c.256T>G Y86D missense mutation Dobrovolny (2008) 0.051 the full paper was not found
317 256 2 c.256T>G Y86D missense mutation Lukas (2013) 0.051
318 256 2 c.256delT deletion Topaloglu (1999)
319 257 2 c.257A>G Y86C missense mutation Eng (1997) Classic 0.031
320 257 2 c.257A>G Y86C missense mutation Garman (2002) Severe 0.031
321 258 2 c.258T>G Y86X nonsense mutation Lee (2000) Classic M 15- Korean
322 258 2 c.258T>G Y86X nonsense mutation Park (2009) Classic
323 258 2 c.258T>G Y86X nonsense mutation Xiong (2015) no description about phenotype in the source paper
324 258 2 c.258T>G Y86X nonsense mutation Lee (2010) Classic Korean
325 258 2 c.258T>G Y86X nonsense mutation Garman (2002) Severe
326 260 2 c.260delA deletion Ramos-Kuri (2014)
327 261 2 c.261_278del18 deletion Davies (1996)
328 262 2 c.262T>G Y88D missense mutation Cooper (2000) 0.101 the full paper was not found
329 263 2 c.263A>G Y88C missense mutation? Chung J (2016) Later-Onset? Korean 0.054
330 265 2 c.265 L89K missense mutation Glass (2004) Classic M 0.142
331 266 2 c.266T>G L89R missense mutation Eng (1994) Classic Norwegian 0.164
332 266 2 c.266T>G L89R missense mutation Saito (2013) Classic 0.164
333 266 2 c.266T>G L89R missense mutation Altarescu (2001) 0.164
334 266 2 c.266T>G L89R missense mutation Garman (2002) Severe 0.164
335 266 2 c.266T>G L89R missense mutation Wu (2011) 0.164
336 266 2 c.266T>G L89R missense mutation Branton (2002) 0.164
337 266 2 c.266T>A L89H missense mutation Lukas (2013) 0.052
338 266 2 c.266T>C L89P missense mutation Eng (1997) Classic 0.023
339 266 2 c.266T>C L89P missense mutation Saito (2013) Classic 0.023
340 266 2 c.266T>C L89P missense mutation Garman (2002) Severe 0.023
341 267 2 c.267_268dupCT duplication Kwan (2007)
342 270 2 c.270C>A C90X nonsense mutation Lee (2010) Classic Korean
343 270 2 c.270delC deletion Schafer (2005)
344 272 2 c.272T>C I91T missense mutation Eng (1997) Variant 0.012
345 272 2 c.272T>C I91T missense mutation Ishii (2007) Variant 0.012
346 272 2 c.272T>C I91T missense mutation Lukas (2013) 0.012
347 272 2 c.272T>C I91T missense mutation Park (2009) Atypical 0.012
348 272 2 c.272T>C I91T missense mutation Lee (2010) Variant Korean 0.012
349 272 2 c.272T>C I91T missense mutation Glass (2004) Variant M 0.012
350 272 2 c.272T>C I91T missense mutation Garman (2002) Mild 0.012
351 272 2 c.272T>C I91T missense mutation Wu (2011) 0.012
352 273 2 c.273_276dupTGAT duplication Lukas (2013)
353 274 2 c.274G>A D92N missense mutation Ashley (2001) Classic 0.032
354 274 2 c.274G>A D92N missense mutation Wu (2011) 0.032
355 274 2 c.274G>A D92N missense mutation Germain (2002) Classic M 30 British 0.032
356 274 2 c.274G>A D92N missense mutation Garman (2002) Severe 0.032
357 274 2 c.274G>C D92H missense mutation Davies (1996) F British 0.140
358 274 2 c.274G>C D92H missense mutation Saito (2013) Classic 0.140
359 274 2 c.274G>C D92H missense mutation Garman (2002) Severe 0.140
360 274 2 c.274G>T D92Y missense mutation Eng (1997) Classic 0.182
361 274 2 c.274G>T D92Y missense mutation Saito (2013) Classic 0.182
362 274 2 c.274G>T D92Y missense mutation Wu (2011) 0.182
363 274 2 c.274G>T D92Y missense mutation Glass (2004) Classic M 0.182
364 274 2 c.274G>T D92Y missense mutation Garman (2002) Severe 0.182
365 274 2 c.274G>T D92Y missense mutation Lee (2014) Classic Taiwan 0.182
366 275 2 c.275A>G D92G missense mutation Huerva (2008) M 0.085
367 275 2 c.275A>T D92V missense mutation Meng (2010) 0.107 the source paper was not written in English.
368 277 2 c.277G>A D93N missense mutation Shabbeer (2005) F 0.073
369 277 2 c.277G>A D93N missense mutation Hwu (2009) Taiwan 0.073
370 277 2 c.277G>A D93N missense mutation Saito (2013) Classic 0.073
371 277 2 c.277G>A D93N missense mutation Dobrovolny (2005) Classical Czech and Slovak 0.073
372 277 2 c.277G>T D93Y missense mutation Ebrahim (2012) 0.248
373 277 2 c.277G>T D93Y missense mutation Lukas (2013) 0.248
374 277 2 c.277 D93X nonsense mutation Altarescu (2001)
375 278 2 c.278A>G D93G missense mutation Davies (1996) F Irish 0.133
376 278 2 c.278A>G D93G missense mutation Ebrahim (2012) 0.133
377 278 2 c.278A>G D93G missense mutation Saito (2013) Classic 0.133
378 278 2 c.278A>G D93G missense mutation Garman (2002) Severe 0.133
379 278 2 c.278A>T D93V missense mutation Shabbeer (2006) Classic 0.128
380 278 2 c.278A>T D93V missense mutation Saito (2013) Classic 0.128
381 278 2 c.278A>T D93V missense mutation Shimotori (2008) Classic Japanese 0.128
382 279 2 c.279C>G D93E missense mutation Burlina (2008) 0.060
383 279 2 c.279C>G D93E missense mutation Lukas (2013) 0.060
384 281 2 c.281G>C C94S missense mutation Blaydon (2001) Classic European 0.031
385 281 2 c.281G>C C94S missense mutation Saito (2013) Classic 0.031
386 281 2 c.281G>C C94S missense mutation Wu (2011) 0.031
387 281 2 c.281G>C C94S missense mutation Shin (2008) Classic 0.031
388 281 2 c.281G>C C94S missense mutation Garman (2002) Severe 0.031
389 281 2 c.281G>A C94Y missense mutation Eng (1997) Classic 0.142
390 281 2 c.281G>A C94Y missense mutation Saito (2013) Classic 0.142
391 281 2 c.281G>A C94Y missense mutation Germain (2002) Classic M 13 Hispanic 0.142
392 281 2 c.281G>A C94Y missense mutation Dobrovolny (2005) Classic 0.142
393 281 2 c.281G>A C94Y missense mutation Rozenfeld (2006) Classic 0.142
394 281 2 c.281G>A C94Y missense mutation Garman (2002) Severe 0.142
395 281 2 c.281_286delGTTGGAinsT indel Kwan (2007)
396 284 2 c.284G>T W95L missense mutation Dobrovolny (2008) 0.017 the full paper was not found
397 284 2 c.284G>T W95L missense mutation Lukas (2013) 0.017
398 284 2 c.284G>C W95S missense mutation Ashton-Prolla (2000) Classic 0.021
399 284 2 c.284G>C W95S missense mutation Wu (2011) 0.021
400 284 2 c.284G>C W95S missense mutation Glass (2004) Classic M 0.021
401 284 2 c.284G>C W95S missense mutation Glass (2004) Hetero F 0.021
402 284 2 c.284G>C W95S missense mutation Blaydon (2001) 0.021
403 284 2 c.284G>C W95S missense mutation Garman (2002) Severe 0.021
404 284 2 c.284G>A W95X nonsense mutation Rodriguez-Mari (2003) Classic M Spanish
405 284 2 c.284G>A W95X nonsense mutation Xiong (2015) no description about phenotype in the source paper
406 285 2 c.285G>T W95C missense mutation Lukas (2013) 0.028
407 289 2 c.289G>C A97P missense mutation Kimura (2002) Classic Japanese 0.054
408 289 2 c.289G>C A97P missense mutation Saito (2013) Classic 0.054
409 290 2 c.290C>T A97V missense mutation Eng (1997) Mild 0.025
410 290 2 c.290C>T A97V missense mutation Ishii (2007) Mild Classic 0.025
411 290 2 c.290C>T A97V missense mutation Saito (2013) Later-onset 0.025
412 290 2 c.290C>T A97V missense mutation Shin (2007) 0.025
413 290 2 c.290C>T A97V missense mutation Shin (2008) Variant 0.025
414 290 2 c.290C>T A97V missense mutation Altarescu (2001) 0.025
415 290 2 c.290C>T A97V missense mutation Glass (2004) Hetero F 0.025
416 290 2 c.290C>T A97V missense mutation Glass (2004) Variant M 0.025
417 290 2 c.290C>T A97V missense mutation Garman (2002) Severe 0.025
418 290 2 c.290C>T A97V missense mutation Wu (2011) 0.025
419 290 2 c.290C>T A97V missense mutation Branton (2002) 0.025
420 295 2 c.295C>T Q99X nonsense mutation Eng (1994) Classic French
421 295 2 c.295C>T Q99X nonsense mutation Topaloglu (1999) Classic
422 295 2 c.295C>T Q99X nonsense mutation Garman (2002) Severe
423 297 2 c.297_298delAA deletion Lee (2000)
424 299 2 c.299G>A R100K missense mutation Eng (1994) Classic Italian 0.043
425 299 2 c.299G>A R100K missense mutation Saito (2013) Classic 0.043
426 299 2 c.299G>A R100K missense mutation Wu (2011) 0.043
427 299 2 c.299G>A R100K missense mutation Glass (2004) Classic M 0.043
428 299 2 c.299G>A R100K missense mutation Glass (2004) Hetero F 0.043
429 299 2 c.299G>A R100K missense mutation Garman (2002) Severe 0.043
430 299 2 c.299G>C R100T missense mutation Eng (1997) Classic 0.137
431 299 2 c.299G>C R100T missense mutation Lukas (2013) 0.137
432 299 2 c.299G>C R100T missense mutation Saito (2013) Classic 0.137
433 299 2 c.299G>C R100T missense mutation Glass (2004) Classic M 0.137
434 299 2 c.299G>C R100T missense mutation Garman (2002) Severe 0.137
435 299 2 c.299G>C R100T missense mutation Wu (2011) 0.137
436 305 2 c.305C>T S102L missense mutation Lukas (2013) 0.003
437 305 2 c.305C>T S102L missense mutation Rolfs (2013) 0.003
438 305 2 c.305C>G S102X nonsense mutation Shimotori (2008) Classic Japanese
439 305 2 c.305delC deletion Eng (1997) classic
440 307 2 c.307G>C E103Q missense mutation Schafer (2005) 0.009
441 307 2 c.307G>T E103X nonsense mutation Dobrovolny (2008) the full paper was not found
442 307 2 c.307G>T E103X nonsense mutation Lukas (2013)
443 307 2 c.307G>T E103X nonsense mutation Xiong (2015) no description about phenotype in the source paper
444 311 2 c.311G>T G104V missense mutation Lin (2010) 0.100
445 311 2 c.311G>T G104V missense mutation Liao (2015) suggest Fabry disease newborn Taiwan 0.100
446 311 2 c.311G>T G104V missense mutation Lin (2009) Unknown M 0.100
447 311 2 c.311G>T G104V missense mutation Lee (2014) Taiwan 0.100
448 311 2 c.311G>T G104V missense mutation Liao (2014) Classic newborn Taiwan 0.100
449 317 2 c.317T>G L106R missense mutation Wattanasirichaigoon (2006) 0.112
450 317 2 c.317_327del11 deletion Okumiya (1996)
451 319 2 c.319C>T Q107X nonsense mutation Davies (1996) F British
452 319 2 c.319C>T Q107X nonsense mutation Xiong (2015) no description about phenotype in the source paper
453 319 2 c.319C>T Q107X nonsense mutation Auray-Blais (2015) Classic M Children
454 319 2 c.319C>T Q107X nonsense mutation Garman (2002) Severe
455 319 2 c.319C>T Q107X nonsense mutation Lee (2014) Classic Taiwan
456 322 2 c.322G>A A108T missense mutation Tai (2012) 0.047
457 322 2 c.322G>A A108T missense mutation Lee (2014) Taiwan 0.047
458 323 2 c.323_324insCAGA insertion Shimotori (2008)
459 326 2 c.326A>G D109G missense mutation Herrera (2014) M/F 0.093
460 334 2 c.334C>T R112C missense mutation Topaloglu (1999) Classic 0.037
461 334 2 c.334C>T + c.196G>C R112C + E66Q missense mutation Ishii (1992) Classic M 14 Japanese? 0.037 with E66Q
462 334 2 c.334C>T R112C missense mutation Lukas (2013) Classic 0.037
463 334 2 c.334C>T R112C missense mutation Park (2009) Classic 0.037
464 334 2 c.334C>T R112C missense mutation Ashton-Prolla (2000) Classic 0.037
465 334 2 c.334C>T R112C missense mutation Ashton-Prolla (2000) Hetero 0.037
466 334 2 c.334C>T R112C missense mutation Saito (2013) Classic 0.037
467 334 2 c.334C>T R112C missense mutation Germain (2002) Classic M 33 French 0.037
468 334 2 c.334C>T R112C missense mutation Germain (2002) Classic M 47 French 0.037
469 334 2 c.334C>T R112C missense mutation Lee (2010) Classic Korean 0.037 R112C1 in the source paper
470 334 2 c.334C>T R112C missense mutation Shin (2007) 0.037
471 334 2 c.334C>T R112C missense mutation Shabbeer (2002) Classic 0.037
472 334 2 c.334C>T R112C missense mutation Shin (2008) Variant 0.037
473 334 2 c.334C>T R112C missense mutation Shabbeer (2006) Classic 0.037
474 334 2 c.334C>T R112C missense mutation Eng (1994)_2 Classic Japanese 0.037
475 334 2 c.334C>T R112C missense mutation Yasuda (2003) Classic M 0.037 with D313Y
476 334 2 c.334C>T R112C missense mutation Utsumi (2009) Classic M 24 Japanese 0.037
477 334 2 c.334C>T R112C missense mutation Auray-Blais (2015) Classic M Children 0.037
478 334 2 c.334C>T R112C missense mutation Blaydon (2001) Classic 0.037
479 334 2 c.334C>T R112C missense mutation Garman (2002) Severe 0.037
480 334 2 c.334C>T R112C missense mutation Mignani (2008) 0.037
481 334 2 c.334C>T R112C missense mutation Wang (2013) 0.037
482 334 2 c.334C>T R112C missense mutation Wu (2011) 0.037
483 334 2 c.334C>T R112C missense mutation Burlina (2008) 0.037
484 334 2 c.334C>T R112C missense mutation Erdos (2008) 0.037
485 334 2 c.334C>A R112S missense mutation Shabbeer (2005) classic M 0.034
486 334 2 c.334C>A R112S missense mutation Shabbeer (2006) Classic 0.034
487 334 2 c.334C>A R112S missense mutation Saito (2013) Classic 0.034
488 334 2 c.334C>T R112C missense mutation Wang (2013) 0.037
489 335 2 c.335G>A R112H missense mutation Eng (1994) Mild Persian 0.082
490 335 2 c.335G>A R112H missense mutation Ishii (2007) Variant 0.082
491 335 2 c.335G>A R112H missense mutation Ashton-Prolla (2000) Classic 0.082
492 335 2 c.335G>A R112H missense mutation Lukas (2013) Variant 0.082
493 335 2 c.335G>A R112H missense mutation Saito (2013) Later-onset 0.082
494 335 2 c.335G>A R112H missense mutation Lin (2009) Renal/cardiac Variant M 0.082
495 335 2 c.335G>A R112H missense mutation Shin (2007) 0.082
496 335 2 c.335G>A R112H missense mutation Shin (2008) Variant 0.082
497 335 2 c.335G>A R112H missense mutation Mechtler (2012) Mild M 0.082
498 335 2 c.335G>A R112H missense mutation Altarescu (2001) 0.082
499 335 2 c.335G>A R112H missense mutation Garman (2002) Mild 0.082
500 335 2 c.335G>A R112H missense mutation Kotanko (2004) 0.082
501 335 2 c.335G>A R112H missense mutation Lee (2014) non-Classic Taiwan 0.082
502 335 2 c.335G>A R112H missense mutation Lorenz (2003) Austria 0.082
503 335 2 c.335G>A R112H missense mutation Shimotori (2008) Classic Japanese 0.082
504 335 2 c.335G>A R112H missense mutation Wu (2011) 0.082
505 335 2 c.335G>A R112H missense mutation Branton (2002) 0.082
506 335 2 c.335G>A R112H missense mutation Vedder (2007) Dutch 0.082
507 335 2 c.335G>A R112H missense mutation Kleinert (2009) M 0.082 R112H(Y) in the source paper
508 337 2 c.337T>C F113L missense mutation Eng (1997) Variant 0.014
509 337 2 c.337T>C F113L missense mutation Ishii (2007) Variant 0.014
510 337 2 c.337T>C F113L missense mutation Park (2009) Atypical 0.014
511 337 2 c.337T>C F113L missense mutation Saito (2013) Later-onset 0.014
512 337 2 c.337T>C F113L missense mutation Lee (2010) Variant 0.014
513 337 2 c.337T>C F113L missense mutation Glass (2004) Variant M 0.014
514 337 2 c.337T>C F113L missense mutation Garman (2002) Severe 0.014
515 337 2 c.337T>C F113L missense mutation Wu (2011) 0.014
516 337 2 c.337T>C F113L missense mutation Burlina (2008) 0.014
517 337 2 c.337_354del18 deletion Eng (1994)
518 338 2 c.338T>C F113S missense mutation Blaydon (2001) Female European 0.005
519 338 2 c.338T>C F113S missense mutation Saito (2013) Hetero 0.005
520 338 2 c.338T>C F113S missense mutation Wu (2011) 0.005
521 338 2 c.338T>C F113S missense mutation Germain (2002) Classic M 47 British 0.005
522 338 2 c.338T>C F113S missense mutation Garman (2002) Severe 0.005
523 352 2 c.352C>A R118S missense mutation Lukas (2013) 0.114
524 352 2 c.352C>G R118G missense mutation Lukas (2013) 0.017
525 352 2 c.352C>T R118C missense mutation Spada (2006) Later-onset ? newborn Italian 0.015
526 352 2 c.352C>T R118C missense mutation Baptista (2010) Young Portuguese 0.015
527 352 2 c.352C>T R118C missense mutation Caetano (2014) F 60 Portugal ? 0.015
528 352 2 c.352C>T R118C missense mutation Herrera (2014) M/F 0.015
529 352 2 c.352C>T R118C missense mutation Pasqualim (2014) F 0.015
530 352 2 c.352C>T R118C missense mutation Lukas (2013) Variant 0.015
531 352 2 c.352C>T R118C missense mutation Rolfs (2013) 0.015
532 352 2 c.352C>2 R118C Polymorphism? Ferreira (2015) Non-pathogenic? 0.015
533 353 2 c.353G>A R118H missense mutation Lukas (2013) 0.048
534 353 2 c.353G>C R118P missense mutation Lukas (2013) 0.094
535 353 2 c.353G>T R118L missense mutation Lukas (2013) 0.024
536 354 2 c.354_368del15 deletion Lukas (2013)
537 355 2 c.355C>T Q119X nonsense mutation Davies (1996) F British
538 355 2 c.355C>T Q119X nonsense mutation Liu (2012) the source paper was not written in English.
539 355 2 c.355C>T Q119X nonsense mutation Tian (2013) the source paper was not written in English.
540 355 2 c.355C>T Q119X nonsense mutation Rigoldi (2014) F Spanish
541 355 2 c.355C>T Q119X nonsense mutation Garman (2002) Severe
542 358 2 c.358C>G L120V missense mutation Chien (2009) 0.016
543 358 2 c.358C>G L120V missense mutation Hwu (2009) Taiwan 0.016
544 358 2 c.358C>G L120V missense mutation Lukas (2013) 0.016
545 358 2 c.358 L120X nonsense mutation Garman (2002) Severe
546 358 2 c.358 L120X nonsense mutation Pasqualim (2014) F
547 359 2 c.359T>C L120P missense mutation Garman (2002) Severe 0.048
548 359 2 c.359_364delTAGCTA deletion Eng (1994)
549 359 2 c.359_361delTAGinsCAA indel Eng (1994)
550 361 2 c.361G>C A121P missense mutation Lorenz (2003) Austria 0.115
551 361 2 c.361G>C A121P missense mutation Kotanko (2004) classic Austrian 0.115
552 361 2 c.361G>A A121T missense mutation Garman (2002) Severe 0.022
553 363 2 c.363delT deletion Erdos (2008)
554 364 2 c.364 R122H missense mutation Smid (2015) M/F R112H? N122
555 364 2 c.364 R122H missense mutation Bouwman (2013) R112H? N122
556 367 2 c.367TAT>ATG Y123M missense mutation Altarescu (2001) 0.009 with N215S
557 367 2 c.367TAT>ATG Y123M missense mutation Branton (2002) 0.009
558 369 2 c.369+1G>A splicing Ashton-Prolla (2000)
559 369 2 c.369+2T>G splicing Eng (1993)
560 370 3 c.370-2A>G splicing Schafer (2005)
561 371 3 c.371T>A V124D missense mutation Kwan (2007) 0.098 the full paper was not found
562 374 3 c.374A>C H125P missense mutation Auray-Blais (2008) 0.164
563 374 3 c.374A>C H125P missense mutation Lukas (2013) 0.164
564 376 3 c.376A>G S126G missense mutation Branton (2002) 0.003
565 376 3 c.376A>G S126G missense mutation De Brabander (2013) 0.003
566 376 3 c.376A>G S126G missense mutation Lukas (2013) Variant 0.003
567 376 3 c.376A>G S126G missense mutation Altarescu (2001) 0.003
568 376 3 c.376A>G S126G missense mutation Herrera (2014) F 0.003
569 376 3 c.376A>G S126G missense mutation Pasqualim (2014) F 0.003
570 376 3 c.376A>G S126G missense mutation Rolfs (2013) 0.003
571 376 3 c.376 S126R missense mutation Lukas (2013) 0.124
572 376 3 c.376A>T S126C missense mutation Lukas (2013) 0.002
573 377 3 c.377G>A S126N missense mutation Lukas (2013) 0.003
574 377 3 c.377G>C S126T missense mutation Lukas (2013) 0.003
575 377 3 c.377G>T S126I missense mutation Lukas (2013) 0.003
576 379 3 c.379A>T K127X nonsense mutation Shabbeer (2006) Classic
577 379 3 c.379A>T K127X nonsense mutation Xiong (2015) no description about phenotype in the source paper
578 383 3 c.383G>A G128E missense mutation Blanch (1996) Classic 0.051
579 383 3 c.383G>A G128E missense mutation Wu (2011) 0.051
580 383 3 c.383G>A G128E missense mutation Shin (2008) Classic 0.051
581 383 3 c.383G>A G128E missense mutation Garman (2002) Severe 0.051
582 386 3 c.386T>C L129P missense mutation Whybra (2001) hetero F 0.036
583 386 3 c.386T>C L129P missense mutation Lukas (2013) 0.036
584 392 3 c.392T>C L131P missense mutation Eng (1994) Classic German 0.053
585 392 3 c.392T>C L131P missense mutation Lukas (2013) Classic 0.053
586 392 3 c.392T>C L131P missense mutation Wu (2011) 0.053
587 392 3 c.392T>C L131P missense mutation Glass (2004) Classic M 0.053
588 392 3 c.392T>C L131P missense mutation Garman (2002) Severe 0.053
589 394 3 c.394G>A G132R missense mutation Shabbeer (2002) Classic 0.189
590 394 3 c.394G>A G132R missense mutation Lukas (2013) Classic 0.189
591 394 3 c.394G>A G132R missense mutation Shin (2007) 0.189
592 394 3 c.394G>A G132R missense mutation Shin (2008) Classic 0.189
593 394 3 c.394G>A G132R missense mutation Lee (2014) Classic Taiwan 0.189
594 394 3 c.394G>A G132R missense mutation Zhang (2007) 0.189
595 395 3 c.395G>A G132E missense mutation Kwan (2007) 0.228 the full paper was not found
596 395 3 c.395G>A G132E missense mutation Lukas (2013) 0.228
597 401 3 c.401A>C Y134S missense mutation Eng (1997) Classic 0.130
598 401 3 c.401A>C Y134S missense mutation Shabbeer (2006) Classic 0.130
599 401 3 c.401A>C Y134S missense mutation Garman (2002) Severe 0.130
600 402 3 c.402T>G Y134X nonsense mutation Ashton-Prolla (2000) Classic
601 402 3 c.402T>G Y134X nonsense mutation Xiong (2015) no description about phenotype in the source paper
602 402 3 c.402T>G Y134X nonsense mutation Glass (2004) Classic M
603 402 3 c.402T>G Y134X nonsense mutation Garman (2002) Severe
604 402 3 c.402delT deletion Kwan (2007)
605 404 3 c.404C>T A135V missense mutation Shabbeer (2005) F 0.028
606 404 3 c.404C>T A135V missense mutation Lukas (2013) Classic 0.028
607 404 3 c.404C>T A135V missense mutation Dobrovolny (2005) Classical Czech and Slovak 0.028
608 406 3 c.406G>C D136H missense mutation Ashley (2001) Classic M 0.247
609 406 3 c.406G>C D136H missense mutation Garman (2002) Severe 0.247
610 406 3 c.406G>T D136Y missense mutation Vedder (2007) Dutch 0.297
611 406 3 c.406G>T D136Y missense mutation Bouwman (2013) 0.297
612 408 3 c.408T>A D136E missense mutation Lukas (2013) 0.054
613 409 3 c.409delG deletion Takenaka (1996) classic Japanese
614 412 3 c.412G>A G138R missense mutation Eng (1997) Classic 0.277
615 412 3 c.412G>A G138R missense mutation Lukas (2013) Classic 0.277
616 412 3 c.412G>A G138R missense mutation Saito (2013) Classic 0.277
617 412 3 c.412G>A G138R missense mutation Garman (2002) Severe 0.277
618 413 3 c.413G>A G138E missense mutation Germain (2002) F 56 German 0.121
619 413 3 c.413G>A G138E missense mutation Saito (2013) Classic 0.121
620 413 3 c.413G>A G138E missense mutation Wu (2011) 0.121
621 413 3 c.413G>A G138E missense mutation Glass (2004) Classic M 0.121
622 413 3 c.413dupG duplication Schafer (2005)
623 416 3 c.416A>G N139S missense mutation Havndrup (2010) Hetero F 0.017
624 416 3 c.416A>G N139S missense mutation Lukas (2013) Variant 0.017
625 422 3 c.422C>T T141I missense mutation Shabbeer (2002) Classic 0.098
626 422 3 c.422C>T T141I missense mutation Lukas (2013) Classic 0.098
627 424 3 c.424T>C C142R missense mutation Topaloglu (1999) Classic 0.065
628 424 3 c.424T>C C142R missense mutation Lukas (2013) Classic 0.065
629 424 3 c.424T>C C142R missense mutation Saito (2013) Classic 0.065
630 424 3 c.424T>C C142R missense mutation Garman (2002) Severe 0.065
631 424 3 c.424T>C C142R missense mutation Wu (2011) 0.065
632 425 3 c.425G>A C142Y missense mutation Okumiya (1995)_2 Classic M 5 Japanese 0.046
633 425 3 c.425G>A C142Y missense mutation Ebrahim (2012) 0.046
634 425 3 c.425G>A C142Y missense mutation Saito (2013) Classic 0.046
635 425 3 c.425G>A C142Y missense mutation Okumiya (1995) Classic 0.046
636 425 3 c.425G>A C142Y missense mutation Takata (1997) Classic 0.046
637 425 3 c.425G>A C142Y missense mutation Glass (2004) Classic M 0.046
638 425 3 c.425G>A C142Y missense mutation Garman (2002) Severe 0.046
639 426 3 c.426C>A C142X nonsense mutation Topaloglu (1999) Classic
640 426 3 c.426C>A C142X nonsense mutation Xiong (2015) no description about phenotype in the source paper
641 426 3 c.426C>A C142X nonsense mutation Altarescu (2001)
642 426 3 c.426C>A C142X nonsense mutation Ashton-Prolla (2000) Classic
643 426 3 c.426C>A C142X nonsense mutation Garman (2002) Severe
644 426 3 c.426C>A C142X nonsense mutation Branton (2002)
645 426 3 c.426C>G C142W missense mutation Schafer (2005) 0.010
646 426 3 c.426C>G C142W missense mutation Andreotti (2011) 0.010
647 426 3 c.426C>G C142W missense mutation Park (2009) Classic 0.010
648 426 3 c.426C>G C142W missense mutation Lee (2010) Classic Korean 0.010
649 426 3 c.426dupC duplication Shabbeer (2002)
650 427 3 c.427G>C A143P missense mutation Eng (1994) Classic Nova Scotian 0.014
651 427 3 c.427G>C A143P missense mutation Glass (2004) Hetero 0.014
652 427 3 c.427G>C A143P missense mutation Lukas (2013) Classic 0.014
653 427 3 c.427G>C A143P missense mutation Shin (2007) 0.014
654 427 3 c.427G>C A143P missense mutation Shin (2008) Classic 0.014
655 427 3 c.427G>C A143P missense mutation Altarescu (2001) 0.014
656 427 3 c.427G>C A143P missense mutation Auray-Blais (2015) Classic M Children 0.014
657 427 3 c.427G>C A143P missense mutation Garman (2002) Severe 0.014
658 427 3 c.427G>C A143P missense mutation Rosenberg (1999) 0.014
659 427 3 c.427G>C A143P missense mutation Wu (2011) 0.014
660 427 3 c.427G>C A143P missense mutation Branton (2002) 0.014
661 427 3 c.427G>A A143T missense mutation Eng (1997) Unknown 0.010
662 427 3 c.427G>A A143T polymorphism? Smid (2015)_2 non-pathogenic? 0.010
663 427 3 c.427G>A A143T missense mutation Corry (2011) 0.010
664 427 3 c.427G>A A143T missense mutation Lin (2009) Variant M 0.010
665 427 3 c.427G>A A143T missense mutation Shin (2007) 0.010
666 427 3 c.427G>A A143T missense mutation Shin (2008) Variant 0.010
667 427 3 c.427G>A A143T missense mutation Shabbeer (2006) late-onset 0.010 classic with Q312H. late-onset only A143T
668 427 3 c.427G>A A143T missense mutation Dobrovolny (2005) Classical 0.010
669 427 3 c.427G>A A143T missense mutation Mechtler (2012) M/F 0.010
670 427 3 c.427G>A A143T missense mutation Terryn (2013) late-onset M 0.010
671 427 3 c.427G>A A143T missense mutation Blaydon (2001) Classic 0.010
672 427 3 c.427G>A A143T missense mutation Garman (2002) Severe 0.010
673 427 3 c.427G>A A143T missense mutation Lee (2014) non-Classic Taiwan 0.010
674 427 3 c.427G>A A143T missense mutation Mignani (2008) 0.010
675 427 3 c.427G>A A143T missense mutation Scott (2013) 0.010
676 427 3 c.427G>A A143T missense mutation Lukas (2013) 0.010
677 427 3 c.427G>A A143T missense mutation Wu (2011) 0.010
678 427 3 c.427G>A A143T polymorphism? Smid (2015) non-pathogenic? M/F 0.010
679 427 3 c.427G>A A143T missense mutation Rolfs (2013) 0.010
680 427 3 c.427G>A A143T missense mutation De Brabander (2013) 0.010
681 427 3 c.427G>A A143T polymorphism? Lenders (2016) non-pathogenic? 0.010
682 427 3 c.427 Y143X nonsense mutation Glass (2004) Classic M Y134?
683 431 3 c.431G>A G144D missense mutation Li (2014) Hetero 26 Chinese 0.055
684 431 3 c.431G>T G144V missense mutation Eng (1994) Classic American Indian 0.005
685 431 3 c.431G>T G144V missense mutation Wu (2011) 0.005
686 431 3 c.431G>T G144V missense mutation Altarescu (2001) 0.005
687 431 3 c.431G>T G144V missense mutation Glass (2004) Classic M 0.005
688 431 3 c.431G>T G144V missense mutation Glass (2004) Hetero F 0.005
689 431 3 c.431G>T G144V missense mutation Garman (2002) Severe 0.005
690 431 3 c.431G>T G144V missense mutation Rosenberg (1999) 0.005
691 431 3 c.431G>T G144V missense mutation Branton (2002) 0.005
692 436 3 c.436C>T P146S missense mutation Ploos van Amstel (1994) later-onset Dutch 0.024
693 436 3 c.436C>T P146S missense mutation Andreotti (2011) 0.024
694 436 3 c.436C>T P146S missense mutation Eng (1994)_2 Mild Dutch 0.024
695 436 3 c.436C>T P146S missense mutation Garman (2002) Mild 0.024
696 439 3 c.439G>A G147R missense mutation Schafer (2005) 0.278
697 439 3 c.439G>A G147R missense mutation Lukas (2013) 0.278
698 439 3 c.439G>A G147R missense mutation Tahir (2007) 0.278 G147RR in the source paper
699 443 3 c.443G>A S148N missense mutation Ashton-Prolla (2000) Classic 0.039
700 443 3 c.443G>A S148N missense mutation Saito (2013) Classic 0.039
701 443 3 c.443G>A S148N missense mutation Shimotori (2008) Classic Japanese 0.039
702 443 3 c.443G>A S148N missense mutation Rigoldi (2014) Classic M Spanish 0.039
703 443 3 c.443G>A S148N missense mutation Glass (2004) Classic M 0.039
704 443 3 c.443G>A S148N missense mutation Garman (2002) Severe 0.039
705 443 3 c.443G>A S148N missense mutation Wu (2011) 0.039
706 444 3 c.444T>G S148R missense mutation Eng (1997) Classic 0.104
707 444 3 c.444T>G S148R missense mutation Saito (2013) Classic 0.104
708 444 3 c.444T>G S148R missense mutation Topaloglu (1999) Classic 0.104
709 444 3 c.444T>G S148R missense mutation Ashton-Prolla (2000) Classic 0.104
710 444 3 c.444T>G S148R missense mutation Glass (2004) Classic M 0.104
711 444 3 c.444T>G S148R missense mutation Glass (2004) Hetero F 0.104
712 444 3 c.444T>G S148R missense mutation Garman (2002) Severe 0.104
713 444 3 c.444T>G S148R missense mutation Wu (2011) 0.104
714 452 3 c.452delA deletion Pisani (2012)
715 453 3 c.453C>A Y151X nonsense mutation Lukas (2013)
716 453 3 c.453C>A Y151X nonsense mutation Shabbeer (2005) F
717 453 3 c.453C>A Y151X nonsense mutation Shabbeer (2006) Classic
718 453 3 c.453C>A Y151X nonsense mutation Xiong (2015) no description about phenotype in the source paper
719 456 3 c.456C>A Y152X nonsense mutation Shabbeer (2002) Classic
720 456 3 c.456C>A Y152X nonsense mutation Shabbeer (2006) Classic
721 456 3 c.456C>A Y152X nonsense mutation Pasqualim (2014) F
722 456 3 c.456C>A Y152X nonsense mutation Xiong (2015) no description about phenotype in the source paper
723 457 3 c.457_459delGAC deletion Shabbeer (2005)
724 463 3 c.463G>C D155H missense mutation Dobrovolny (2005) Classic Czech and Slovak 0.305
725 463 3 c.463G>C D155H missense mutation Rozenfeld (2006) Classic 0.305
726 466 3 c.466G>A A156T missense mutation Eng (1994)_2 Classic Danish 0.030
727 466 3 c.466G>A A156T missense mutation Garman (2002) Severe 0.030
728 466 3 c.466G>A A156T missense mutation Havndrup (2010) M/F 0.030
729 466 3 c.466G>A A156T missense mutation Madsen (1995) 0.030
730 466 3 c.466 A156N missense mutation Garman (2002) Severe 0.058
731 467 3 c.467C>A A156D missense mutation Lukas (2013) 0.112
732 467 3 c.467C>A A156D missense mutation Pasqualim (2014) F 0.112
733 467 3 c.467C>A A156D missense mutation Tura_a (2012) M 0.112
734 467 3 c.467C>T A156V missense mutation Okumiya (1995)_2 Classic M 25 Japanese 0.065
735 467 3 c.467C>T A156V missense mutation Andreotti (2011) 0.065
736 467 3 c.467C>T A156V missense mutation Ishii (2007) Classic 0.065
737 467 3 c.467C>T A156V missense mutation Okumiya (1995) Classic 0.065
738 467 3 c.467C>T A156V missense mutation Takata (1997) Classic 0.065
739 467 3 c.467C>T A156V missense mutation Garman (2002) Severe 0.065
740 467 3 c.467C>T A156V missense mutation Lukas (2013) Classic 0.065
741 469 3 c.469C>T Q157X nonsense mutation Eng (1994) Classic African-American
742 469 3 c.469C>T Q157X nonsense mutation Lukas (2013) Classic
743 469 3 c.469C>T Q157X nonsense mutation Xiong (2015) no description about phenotype in the source paper
744 469 3 c.469C>T Q157X nonsense mutation Shabbeer (2006) Classic
745 469 3 c.469C>T Q157X nonsense mutation Garman (2002) Severe
746 469 3 c.469C>T Q157X nonsense mutation Erdos (2008)
747 477 3 c.477delT deletion Erdos (2008)
748 484 3 c.484T>C W162R missense mutation Eng (1993) Classic Italian 0.043
749 484 3 c.484T>C W162R missense mutation Saito (2013) Classic 0.043
750 484 3 c.484T>C W162R missense mutation Wu (2011) 0.043
751 484 3 c.484T>C W162R missense mutation Eng (1994)_2 Classic Italian 0.043
752 484 3 c.484T>C W162R missense mutation Garman (2002) Severe 0.043
753 484 3 c.484T>C W162R missense mutation Kotanko (2004) 0.043
754 484 3 c.484T>C W162R missense mutation Lorenz (2003) Austria 0.043
755 484 3 c.484T>G W162G missense mutation Lukas (2013) 0.016
756 485 3 c.485G>A W162X nonsense mutation Rosenberg (1999)
757 485 3 c.485G>A W162X nonsense mutation Xiong (2015) no description about phenotype in the source paper
758 485 3 c.485G>A W162X nonsense mutation Germain (2002) Classic M 39 British
759 485 3 c.485G>A W162X nonsense mutation Altarescu (2001)
760 485 3 c.485G>A W162X nonsense mutation Glass (2004) Classic M
761 485 3 c.485G>A W162X nonsense mutation Glass (2004) Hetero F
762 485 3 c.485G>A W162X nonsense mutation Blaydon (2001) Classic
763 485 3 c.485G>A W162X nonsense mutation Garman (2002) Severe
764 485 3 c.485G>A W162X nonsense mutation Branton (2002)
765 486 3 c.486G>T W162C missense mutation Germain (1996) F 0.045
766 486 3 c.486G>T W162C missense mutation Saito (2013) Classic 0.045
767 486 3 c.486G>T W162C missense mutation Garman (2002) Severe 0.045
768 486 3 c.486G>T W162C missense mutation Lukas (2013) 0.045
769 486 3 c.486G>T W162C missense mutation Saito (2013) Classic 0.045
770 486 3 c.486_498del13 deletion Shabbeer (2002)
771 488 3 c.488G>T G163V missense mutation Eng (1997) Classic 0.017
772 488 3 c.488G>T G163V missense mutation Garman (2002) Severe 0.017
773 491 3 c.491T>G V164G missense mutation Lukas (2013) 0.009
774 493 3 c.493G>C D165H missense mutation Rakoczi (2007) 0.143 the source paper was not written in English.
775 493 3 c.493G>C D165H missense mutation Iemolo (2014) M/F 0.143
776 493 3 c.493G>C D165H missense mutation Lukas (2013) 0.143
777 493 3 c.493G>C D165H missense mutation Erdos (2008) 0.143
778 493 3 c.493G>T D165Y missense mutation Lukas (2013) 0.075
779 494 3 c.494A>T D165V missense mutation Davies (1994) Classic 0.156
780 494 3 c.494A>T D165V missense mutation Lukas (2013) Classic 0.156
781 494 3 c.494A>T D165V missense mutation Siekierska (2012) 0.156
782 494 3 c.494A>T D165V missense mutation Topaloglu (1999) Classic 0.156
783 494 3 c.494A>T D165V missense mutation Garman (2002) Severe 0.156
784 496 3 c.496_497CT>GG L166G missense mutation Shabbeer (2006) Classic 0.081
785 496 3 c.496_497CT>GG L166G missense mutation Saito (2013) Classic 0.081
786 496 3 c.496C>G L166V missense mutation Okumiya (1995)_2 Classic M 11 Japanese 0.031
787 496 3 c.496C>G L166V missense mutation Andreotti (2011) 0.031
788 496 3 c.496C>G L166V missense mutation Ishii (2007) Classic 0.031
789 496 3 c.496C>G L166V missense mutation Saito (2013) Classic 0.031
790 496 3 c.496C>G L166V missense mutation Okumiya (1995) Classic 0.031
791 496 3 c.496C>G L166V missense mutation Takata (1997) Classic 0.031
792 496 3 c.496C>G L166V missense mutation Garman (2002) Severe 0.031
793 496 3 c.496_497delCTinsGG indel Shabbeer (2006)
794 500 3 c.500T>A L167Q missense mutation Lukas (2013) 0.009
795 500 3 c.500T>C L167P missense mutation Morrone (2003) Classic Italian 0.090
796 503 3 c.503A>G K168R missense mutation Shabbeer (2002) Classic 0.014
797 504 3 c.504A>C K168N missense mutation Kwan (2007) 0.193 the full paper was not found
798 506 3 c.506T>C F169S missense mutation Cooper (2000) 0.035 the full paper was not found
799 506 3 c.506T>C F169S missense mutation Sadick (2007) 0.035
800 506 3 c.506T>C F169S missense mutation Ashley (2001) Classic 0.035
801 506 3 c.506T>C F169S missense mutation Garman (2002) Severe 0.035
802 508 3 c.508G>A D170N missense mutation Lukas (2013) 0.062
803 508 3 c.508G>C D170H missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.120
804 508 3 c.508G>C D170H missense mutation Saito (2013) Classic 0.120
805 509 3 c.509A>T D170V missense mutation Eng (1997) Classic 0.072
806 509 3 c.509A>T D170V missense mutation Saito (2013) Classic 0.072
807 509 3 c.509A>T D170V missense mutation Wu (2011) 0.072
808 509 3 c.509A>T D170V missense mutation Garman (2002) Severe 0.072
809 511 3 c.511G>C G171R missense mutation Dobrovolny (2005) Classical Czech and Slovak 0.283
810 511 3 c.511G>C G171R missense mutation Saito (2013) Classic 0.283
811 511 3 c.511G>T G171C missense mutation Nagasaki (2008) Classic M 0.065
812 511 3 c.511G>T G171C missense mutation Saito (2013) Classic 0.065
813 512 3 c.512G>A G171D missense mutation Shabbeer (2005) classic M 0.095
814 512 3 c.512G>A G171D missense mutation Saito (2013) Classic 0.095
815 512 3 c.512G>A G171D missense mutation Wu (2011) 0.095
816 512 3 c.512G>A G171D missense mutation Shabbeer (2006) Classic 0.095
817 514 3 c.514T>C C172R missense mutation Ashton-Prolla (2000) Classic 0.049
818 514 3 c.514T>C C172R missense mutation Saito (2013) Classic 0.049
819 514 3 c.514T>C C172R missense mutation Glass (2004) Classic M 0.049
820 514 3 c.514T>C C172R missense mutation Garman (2002) Severe 0.049
821 514 3 c.514T>G C172G missense mutation Yasuda (2003) Classic M 0.028 with D313Y
822 514 3 c.514T>G C172G missense mutation Lukas (2013) Classic 0.028
823 514 3 c.514T>G C172G missense mutation Saito (2013) Classic 0.028
824 514 3 c.514T>G C172G missense mutation Wu (2011) 0.028
825 515 3 c.515G>T C172F missense mutation Ashley (2001) Classic M 0.039
826 515 3 c.515G>T C172F missense mutation Saito (2013) Classic 0.039
827 515 3 c.515G>T C172F missense mutation Garman (2002) Severe 0.039
828 515 3 c.515G>A C172Y missense mutation Eng (1994) Classic Hispanic 0.041
829 515 3 c.515G>A C172Y missense mutation Lukas (2013) Classic 0.041
830 515 3 c.515G>A C172Y missense mutation Rigoldi (2014) 0.041
831 515 3 c.515G>A C172Y missense mutation Saito (2013) Classic 0.041
832 515 3 c.515G>A C172Y missense mutation Glass (2004) Classic M 0.041
833 515 3 c.515G>A C172Y missense mutation Garman (2002) Severe 0.041
834 515 3 c.515G>A C172Y missense mutation Wu (2011) 0.041
835 516 3 c.516T>G C172W missense mutation Schafer (2005) 0.037
836 519 3 c.519C>A Y173X nonsense mutation Shabbeer (2006) Classic
837 519 3 c.519C>A Y173X nonsense mutation Xiong (2015) no description about phenotype in the source paper
838 520 3 c.520T>C C174R missense mutation Meng (2010) 0.152 the source paper was not written in English.
839 520 3 c.520delT deletion Blaydon (2001) classic European
840 520 3 c.520dupT duplication Lukas (2013)
841 520 3 c.520T>G C174G missense mutation Serebrinsky (2015) later-onset M 46 Spanish 0.008 personal communication
842 523 3 c.523G>A D175N missense mutation Lukas (2013) 0.016
843 525 3 c.525C>G D175E missense mutation Lukas (2013) 0.022
844 525 3 c.525_526delCA deletion Lukas (2013)
845 530 3 c.530T>A L177X nonsense mutation Shabbeer (2005) classic M
846 530 3 c.530T>A L177X nonsense mutation Shabbeer (2006) Classic
847 530 3 c.530T>A L177X nonsense mutation Xiong (2015) no description about phenotype in the source paper
848 540 3 c.540G> L180F missense mutation personal communication hetero F 43 Spanish 0.054 personal communication
849 547 3 c.547G>C G183R missense mutation Meng (2010) 0.183 the source paper was not written in English.
850 547 3 c.547G>A G183S missense mutation Shabbeer (2002) Classic 0.088
851 547 3 c.547G>A G183S missense mutation Saito (2013) Classic 0.088
852 547 3 c.547G>A G183S missense mutation Wu (2011) 0.088
853 547 3 c.547+1G>A splicing Ashton-Prolla (2000)
854 548 4 c.548G>C G183A missense mutation Filoni (2010) Hetero F 49- Italian 0.063
855 548 4 c.548G>C G183A missense mutation Andreotti (2011) 0.063
856 548 4 c.548G>C G183A missense mutation Saito (2013) Hetero 0.063
857 548 4 c.548G>A G183D missense mutation Topaloglu (1999) Classic 0.204
858 548 4 c.548G>A G183D missense mutation Saito (2013) Classic 0.204
859 548 4 c.548G>A G183D missense mutation Wu (2011) 0.204
860 548 4 c.548G>A G183D missense mutation Germain (2002) Classic M 31 French 0.204
861 548 4 c.548G>A G183D missense mutation Glass (2004) Classic M 0.204
862 548 4 c.548G>A G183D missense mutation Garman (2002) Severe 0.204
863 548 4 c.548G>A G183D missense mutation Zhang (2007) 0.204
864 548 4 c.548G>A G183D missense mutation Vedder (2007) Dutch 0.204
865 548 4 c.548G>T G183V missense mutation Dobrovolny (2008) 0.138 the full paper was not found
866 548 4 c.548G>T G183V missense mutation Lukas (2013) 0.138
867 548 4 c.548-1G>C splicing Germain (1999)
868 548 4 c.548-1G>T splicing Davies (1994)
869 550 4 c.550T>A Y184N missense mutation Tuttolomondo (2012) Hetero F 0.032
870 559 4 c.559A>G M187V missense mutation Ashton-Prolla (2000) Classic 0.030
871 559 4 c.559A>G M187V missense mutation Saito (2013) Classic 0.030
872 559 4 c.559A>G M187V missense mutation Glass (2004) Classic M 0.030
873 559 4 c.559A>G M187V missense mutation Glass (2004) Hetero F 0.030
874 559 4 c.559A>G M187V missense mutation Garman (2002) Severe 0.030
875 560 4 c.560T>G M187R missense mutation San Rom_n-Monserrat (2014) 0.059
876 560 4 c.560T>C M187T missense mutation Shabbeer (2006) Classic 0.006
877 560 4 c.560T>C M187T missense mutation Lukas (2013) Classic 0.006
878 560 4 c.560T>C M187T missense mutation Saito (2013) Classic 0.006
879 561 4 c.561G> M187I missense mutation Sadick (2007) 0.036
880 568 4 c.568delG deletion Shabbeer (2002)
881 571 4 c.571delC deletion Lukas (2013)
882 572 4 c.572T>A L191Q missense mutation Ashley (2001) Classic 0.007
883 572 4 c.572T>A L191Q missense mutation Garman (2002) Severe 0.007
884 572 4 c.572T>C L191P missense mutation Cooper (2000) 0.086 the full paper was not found
885 572 4 c.572T>C L191P missense mutation Lukas (2013) Classic 0.086
886 572 4 c.572T>C L191P missense mutation Rigoldi (2014) Classic M Spanish 0.086
887 572 4 c.572T>C L191P missense mutation Rozenfeld (2006) Classic 0.086
888 581 4 c.581C>T T194I missense mutation Schafer (2005) 0.063
889 581 4 c.581C>T T194I missense mutation Andreotti (2011) 0.063
890 584 4 c.584G>T G195V missense mutation Nakagawa (2011) Hetero 0.004
891 584 4 c.584G>T G195V missense mutation Doi (2012) Later onset Japanese 0.004
892 590 4 c.590delG deletion Whybra (2001) hetero
893 593 4 c.593T>C I198T missense mutation Auray-Blais (2015) 0.007 no description about phenotype in the source paper
894 595 4 c.595G>A V199M missense mutation Shabbeer (2002) Classic 0.053
895 602 4 c.602C>T S201F missense mutation Shabbeer (2005) F 0.007
896 602 4 c.602C>T S201F missense mutation Shabbeer (2006) Classic 0.007
897 602 4 c.602C>T S201F missense mutation Saito (2013) Classic 0.007
898 602 4 c.602C>T S201F missense mutation Shin (2008) Variant 0.007
899 602 4 c.602C>A S201Y missense mutation Shabbeer (2006) Classic 0.011
900 602 4 c.602C>A S201Y missense mutation Saito (2013) Classic 0.011
901 605 4 c.605G>A C202Y missense mutation Eng (1997) Classic 0.209
902 605 4 c.605G>A C202Y missense mutation Lukas (2013) 0.209
903 605 4 c.605G>A C202Y missense mutation Pasqualim (2014) F 0.209
904 605 4 c.605G>A C202Y missense mutation Kobayashi (2014) Hetero F Japanese 0.209
905 605 4 c.605G>A C202Y missense mutation Saito (2013) Classic 0.209
906 605 4 c.605G>A C202Y missense mutation Garman (2002) Severe 0.209
907 605 4 c.605G>A C202Y missense mutation Wu (2011) 0.209
908 606 4 c.606T>G C202W missense mutation Ploos van Amstel (1994) Hetero Dutch 0.176
909 606 4 c.606T>G C202W missense mutation Saito (2013) Hetero 0.176
910 606 4 c.606T>G C202W missense mutation Eng (1994)_2 Classic 0.176
911 606 4 c.606T>G C202W missense mutation Garman (2002) Severe 0.176
912 606 4 c.606T>G C202W missense mutation Germain (1999) Classic 0.176
913 606 4 c.606T>G C202W missense mutation Bouwman (2013) 0.176
914 606 4 c.606delT deletion Vedder (2007)
915 612 4 c.612G>C W204C missense mutation Lukas (2013) 0.016
916 612 4 c.612G>A W204X nonsense mutation Ashton-Prolla (2000) Classic
917 612 4 c.612G>A W204X nonsense mutation Ashton-Prolla (2000) Hetero
918 612 4 c.612G>A W204X nonsense mutation Lukas (2013)
919 612 4 c.612G>A W204X nonsense mutation Xiong (2015) no description about phenotype in the source paper
920 612 4 c.612G>A W204X nonsense mutation Garman (2002) Severe
921 612 4 c.612G>A W204X nonsense mutation Lee (2014) Classic Taiwan
922 612 4 c.612G>A W204X nonsense mutation Tai (2012)
923 612 4 c.612G>A W204X nonsense mutation Auray-Blais (2015) Classic M Children
924 613 4 c.613C>A P205T missense mutation Blanch (1996) Classic 0.022
925 613 4 c.613C>A P205T missense mutation Saito (2013) Classic 0.022
926 613 4 c.613C>A P205T missense mutation Shimotori (2008) Classic Japanese 0.022
927 613 4 c.613C>A P205T missense mutation Shin (2008) Variant 0.022
928 613 4 c.613C>A P205T missense mutation Davies (1996) F British 0.022
929 613 4 c.613C>A P205T missense mutation Auray-Blais (2015) Classic M Children 0.022
930 613 4 c.613C>A P205T missense mutation Garman (2002) Severe 0.022
931 613 4 c.613C>A P205T missense mutation Wu (2011) 0.022
932 613 4 c.613_621delCCTCTTTAT deletion Eng (1997)
933 613 4 c.613C>T P205S missense mutation personal communication later-onset M middle age Italian 0.015 personal communication
934 614 4 c.614C>G P205R missense mutation Shabbeer (2002) Classic 0.257
935 614 4 c.614C>G P205R missense mutation Saito (2013) Classic 0.257
936 614 4 c.614C>G P205R missense mutation Wu (2011) 0.257
937 614 4 c.614C>T P205L missense mutation Schafer (2005) 0.078
938 617 4 c.617T>C L206P missense mutation Kim (2017) classic male 39 Korean 0.037
939 617 4 c.617T>C L206P missense mutation Pan X (2016) classic male 29 Chinese 0.037
940 618 4 c.618_619delTT deletion Morrone (2003)
941 618 4 c.618_621delTTATinsAAA indel Shabbeer (2002) classic
942 620 4 c.620A>G Y207C missense mutation Benjamin (2009) Classic 0.017
943 620 4 c.620A>G Y207C missense mutation Saito (2013) Classic 0.017
944 620 4 c.620A>G Y207C missense mutation Wu (2011) 0.017
945 620 4 c.620A>C Y207S missense mutation Shabbeer (2002) Classic 0.019
946 620 4 c.620A>C Y207S missense mutation Saito (2013) Classic 0.019
947 620 4 c.620A>C Y207S missense mutation Wu (2011) 0.019
948 620 4 c.620A>C Y207S missense mutation Shin (2008) Classic 0.019
949 621 4 c.621dupT duplication Auray-Blais (2008)
950 628 4 c.628C>T P210S missense mutation Saito (2013) Later-onset 0.003
951 628 4 c.628C>T P210S missense mutation Takahashi (2015) Hetero F 42 0.003
952 629 4 c.629C>T P210L missense mutation Saito (2013) Later-onset 0.003
953 634 4 c.634C>T Q212X nonsense mutation Kwan (2007) the full paper was not found
954 634 4 c.634C>T Q212X nonsense mutation Xiong (2015) no description about phenotype in the source paper
955 638 4 c.638A>T K213M missense mutation Lukas (2013) 0.035
956 639 4 c.639G>T splicing Okumiya (1995)_2
957 639 4 c.639+1G>A splicing Rodriguez-Mari (2003)
958 639 4 c.639+1G>C splicing Ashton-Prolla (2000)
959 639 4 c.639+2T>C splicing Eng (1997)
960 639 4 c.639+4A>T splicing Topaloglu (1999)
961 639 4 c.639+890T>C splicing Lee (2014)
962 640 5 c.640C>T P214S missense mutation Okur (2013) M 0.029
963 640 5 c.640-11T>A splicing Lee (2010)
964 640 5 c.640-2A>T splicing Auray-Blais (2008)
965 640 5 c.640-1G>A splicing Shabbeer (2006)
966 640 5 c.640-3C>G splicing Kwan (2007)
967 644 5 c.644A>G N215S missense mutation Davies (1993) Classic 0.004
968 644 5 c.644A>G N215S missense mutation Ebrahim (2012) Late-onset 0.004
969 644 5 c.644A>G N215S missense mutation Ishii (2007) Variant 0.004
970 644 5 c.644A>G N215S missense mutation Eng (1993) Variant Italian 0.004
971 644 5 c.644A>G N215S missense mutation Guffon (1998) moderate M 30 Italian 0.004
972 644 5 c.644A>G N215S missense mutation Shin (2008) Variant 0.004
973 644 5 c.644A>G N215S missense mutation Topaloglu (1999) Hetero 0.004
974 644 5 c.644A>G N215S missense mutation Dobrovolny (2005) Variant 0.004
975 644 5 c.644A>G N215S missense mutation Nakao (1995) Atypical Variant 0.004
976 644 5 c.644A>G N215S missense mutation Altarescu (2001) 0.004
977 644 5 c.644A>G N215S missense mutation Eng (1994)_2 Mild 0.004
978 644 5 c.644A>G N215S missense mutation Glass (2004) Varaint M 0.004
979 644 5 c.644A>G N215S missense mutation Auray-Blais (2015) Atypical phenotype M Children 0.004
980 644 5 c.644A>G N215S missense mutation Blaydon (2001) Mild 0.004
981 644 5 c.644A>G N215S missense mutation Garman (2002) Mild 0.004
982 644 5 c.644A>G N215S missense mutation Mills (2005) 0.004
983 644 5 c.644A>G N215S missense mutation Pasqualim (2014) F 0.004
984 644 5 c.644A>G N215S missense mutation Scott (2013) 0.004
985 644 5 c.644A>G N215S missense mutation Lukas (2013) Variant 0.004
986 644 5 c.644A>G N215S missense mutation Wu (2011) 0.004
987 644 5 c.644A>G N215S missense mutation Branton (2002) 0.004
988 644 5 c.644A>G N215S missense mutation Erdos (2008) 0.004
989 646 5 c.646T>G Y216D missense mutation Eng (1997) Classic 0.145
990 646 5 c.646T>G Y216D missense mutation Saito (2013) Classic 0.145
991 646 5 c.646T>G Y216D missense mutation Garman (2002) Severe 0.145
992 646 5 c.646dupT duplication Rodriguez-Mari (2003)
993 646 5 c.646delT deletion Kwan (2007)
994 647 5 c.647A>G Y216C missense mutation Filoni (2010) Classic M 20- Italian 0.005
995 647 5 c.647A>G Y216C missense mutation Andreotti (2011) 0.005
996 647 5 c.647A>G Y216C missense mutation Saito (2013) Classic 0.005
997 650 5 c.650_663dup14 duplication Schafer (2005)
998 656 5 c.656T>C I219T missense mutation Hwu (2009) Taiwan 0.007
999 656 5 c.656T>C I219T missense mutation Lukas (2013) 0.007
1000 656 5 c.656T>A I219N missense mutation Garman (2002) Severe 0.012
1001 656 5 c.656_657delTCinsAT indel Eng (1994)
1002 658 5 c.658C>T R220X nonsense mutation Meaney (1994) Hetero
1003 658 5 c.658C>T R220X nonsense mutation Lukas (2013) Classic
1004 658 5 c.658C>T R220X nonsense mutation Mills (2005)
1005 658 5 c.658C>T R220X nonsense mutation Germain (2002) Classic M 36 British
1006 658 5 c.658C>T R220X nonsense mutation Rigoldi (2014)
1007 658 5 c.658C>T R220X nonsense mutation Lee (2010) Classic Korean
1008 658 5 c.658C>T R220X nonsense mutation Morrone (2003) Classic Italian
1009 658 5 c.658C>T R220X nonsense mutation Shin (2007)
1010 658 5 c.658C>T R220X nonsense mutation Garman (2002) Severe
1011 658 5 c.658C>T R220X nonsense mutation Germain (1996) M
1012 658 5 c.658C>T R220X nonsense mutation Mignani (2008)
1013 658 5 c.658C>T R220X nonsense mutation Sadick (2007)
1014 658 5 c.658C>T R220X nonsense mutation Vedder (2007) Dutch
1015 659 5 c.659G>A R220Q missense mutation Lukas (2013) 0.126
1016 659 5 c.659G>A R220Q missense mutation Scott (2013) 0.126
1017 659 5 c.659G>C R220P missense mutation Fukutomi (2013) Japanese 0.146
1018 661 5 c.661C>T Q221X nonsense mutation Shabbeer (2002) Classic
1019 661 5 c.661C>T Q221X nonsense mutation Shabbeer (2006) Classic
1020 661 5 c.661C>T Q221X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1021 661 5 c.661C>T Q221X nonsense mutation Tahir (2007)
1022 666 5 c.666C>A Y222X nonsense mutation Yang (2003) Mild M Chinese
1023 666 5 c.666C>A Y222X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1024 667 5 c.667T>C C223R missense mutation Shabbeer (2002) Classic 0.260
1025 667 5 c.667T>C C223R missense mutation Saito (2013) Classic 0.260
1026 667 5 c.667T>G C223G missense mutation Germain (1999) 0.012
1027 667 5 c.667T>G C223G missense mutation Garman (2002) Severe 0.012
1028 668 5 c.668G>A C223Y missense mutation Shabbeer (2002) Classic 0.221
1029 668 5 c.668G>A C223Y missense mutation Saito (2013) Classic 0.221
1030 668 5 c.668G>A C223Y missense mutation Schafer (2005) 0.221
1031 668 5 c.668G>A C223Y missense mutation Sadick (2007) 0.221
1032 670 5 c.670A>G N224D missense mutation Guffon (1998) Classic French 0.057
1033 670 5 c.670A>G N224D missense mutation Guffon (2003) Hetero 0.057
1034 670 5 c.670A>G N224D missense mutation Saito (2013) Classic 0.057
1035 670 5 c.670A>G N224D missense mutation Garman (2002) Severe 0.057
1036 670 5 c.670A>G N224D missense mutation Germain (1999) Classic 0.057
1037 671 5 c.671A>G N224S missense mutation Ashton-Prolla (2000) Classic 0.054
1038 671 5 c.671A>G N224S missense mutation Lukas (2013) Classic 0.054
1039 671 5 c.671A>G N224S missense mutation Saito (2013) Classic 0.054
1040 671 5 c.671A>G N224S missense mutation Garman (2002) Severe 0.054
1041 671 5 c.671A>G N224S missense mutation Sadick (2007) 0.054
1042 673 5 c.673C>G H225D missense mutation Lukas (2013) 0.146
1043 674 5 c.674A>G H225R missense mutation Politei (2005) 0.057 the source paper was not written in English.
1044 674 5 c.674A>G H225R missense mutation Lukas (2013) Classic 0.057
1045 674 5 c.674A>G H225R missense mutation Wu (2011) 0.057
1046 674 5 c.674A>G H225R missense mutation Shin (2008) Classic 0.057
1047 676 5 c.676T>C W226R missense mutation Ashton-Prolla (2000) Classic 0.032
1048 676 5 c.676T>C W226R missense mutation Wu (2011) 0.032
1049 676 5 c.676T>C W226R missense mutation Glass (2004) Classic M 0.032
1050 676 5 c.676T>C W226R missense mutation Garman (2002) Severe 0.032
1051 677 5 c.677G>A W226X nonsense mutation Davies (1994) Classic
1052 677 5 c.677G>A W226X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1053 677 5 c.677G>A W226X nonsense mutation Shabbeer (2006) Classic
1054 677 5 c.677G>A W226X nonsense mutation Glass (2004) Hetero F
1055 677 5 c.677G>A W226X nonsense mutation Garman (2002) Severe
1056 677 5 c.677G>A W226X nonsense mutation Bouwman (2013)
1057 677 5 c.677G>A W226X nonsense mutation Vedder (2007) Dutch
1058 678 5 c.678G>T W226C missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.087 with R227X
1059 678 5 c.678delG deletion Cooper (2000)
1060 679 5 c.679C>T R227X nonsense mutation Davies (1993) Classic
1061 679 5 c.679C>T R227X nonsense mutation Lukas (2013) Classic
1062 679 5 c.679C>T R227X nonsense mutation Saarinen (2015) Classic M
1063 679 5 c.679C>T R227X nonsense mutation Eng (1993) Classic Common; see text
1064 679 5 c.679C>T R227X nonsense mutation Germain (2002) Classic M 59 French
1065 679 5 c.679C>T R227X nonsense mutation Lee (2010) Classic Korean
1066 679 5 c.679C>T R227X nonsense mutation Rodriguez-Mari (2003) Classic M Spanish with W226R
1067 679 5 c.679C>T R227X nonsense mutation Rodriguez-Mari (2003) M Spanish
1068 679 5 c.679C>T R227X nonsense mutation Topaloglu (1999) Classic
1069 679 5 c.679C>T R227X nonsense mutation Shabbeer (2006) Classic
1070 679 5 c.679C>T R227X nonsense mutation Guffon (2003) Hetero
1071 679 5 c.679C>T R227X nonsense mutation Altarescu (2001)
1072 679 5 c.679C>T R227X nonsense mutation Eng (1994)_2 Classic Common
1073 679 5 c.679C>T R227X nonsense mutation Ashton-Prolla (2000) Classic
1074 679 5 c.679C>T R227X nonsense mutation Glass (2004) Classic M
1075 679 5 c.679C>T R227X nonsense mutation Glass (2004) Hetero F
1076 679 5 c.679C>T R227X nonsense mutation Garman (2002) Severe
1077 679 5 c.679C>T R227X nonsense mutation Germain (1996) M/F
1078 679 5 c.679C>T R227X nonsense mutation Tahir (2007)
1079 679 5 c.679C>T R227X nonsense mutation Branton (2002)
1080 679 5 c.679C>T R227X nonsense mutation Vedder (2007) Dutch
1081 680 5 c.680G>A R227Q missense mutation Eng (1993) Classic Common; see text 0.086
1082 680 5 c.680G>A R227Q missense mutation Lukas (2013) Classic 0.086
1083 680 5 c.680G>A R227Q missense mutation Wu (2011) 0.086
1084 680 5 c.680G>A R227Q missense mutation Germain (2002) Classic M 39 British 0.086
1085 680 5 c.680G>A R227Q missense mutation Morrone (2003) Classic Italian 0.086
1086 680 5 c.680G>A R227Q missense mutation Shin (2008) Classic 0.086
1087 680 5 c.680G>A R227Q missense mutation Eng (1994)_2 Classic Common 0.086
1088 680 5 c.680G>A R227Q missense mutation Ashton-Prolla (2000) Classic 0.086
1089 680 5 c.680G>A R227Q missense mutation Glass (2004) Classic M 0.086
1090 680 5 c.680G>A R227Q missense mutation Garman (2002) Severe 0.086
1091 680 5 c.680G>A R227Q missense mutation Koskenvuo (2009) 0.086
1092 680 5 c.680G>A R227Q missense mutation Mignani (2008) 0.086
1093 680 5 c.680G>A R227Q missense mutation Rosenberg (1999) 0.086
1094 680 5 c.680G>A R227Q missense mutation Laaksonen (2008) 0.086
1095 680 5 c.680G>A R227Q missense mutation Bouwman (2013) 0.086
1096 687 5 c.687T>G F229L missense mutation Kawano (2007) Variant 57 0.031
1097 688 5 c.688G>A A230T missense mutation Ashton-Prolla (2000) Hetero 0.003
1098 688 5 c.688G>A A230T missense mutation Andreotti (2011) Classic 0.003
1099 688 5 c.688G>A A230T missense mutation Garman (2002) Severe 0.003
1100 691 5 c.691G>A D231N missense mutation Redonnet-Vernhet (1996) Hetero 0.037
1101 691 5 c.691G>A D231N missense mutation Lukas (2013) Classic 0.037
1102 691 5 c.691G>A D231N missense mutation Garman (2002) Severe 0.037
1103 692 5 c.692A>G D231G missense mutation Park (2009) Classic 0.045
1104 692 5 c.692A>G D231G missense mutation Andreotti (2011) 0.045
1105 692 5 c.692A>G D231G missense mutation Saito (2013) Classic 0.045
1106 692 5 c.692A>G D231G missense mutation Lee (2010) Classic Korean 0.045
1107 692 5 c.692A>T D231V missense mutation Shimotori (2008) Classic Japanese 0.041
1108 692 5 c.692A>T D231V missense mutation Saito (2013) Classic 0.041
1109 695 5 c.695T>C I232T missense mutation Tai (2012) 0.081
1110 695 5 c.695T>C I232T missense mutation Adalsteinsdottir (2014) 0.081
1111 695 5 c.695T>C I232T missense mutation Liao (2015) suggest Fabry disease newborn Taiwan 0.081
1112 695 5 c.695T>C I232T missense mutation Lee (2014) Taiwan 0.081
1113 695 5 c.695T>C I232T missense mutation Lukas (2013) 0.081
1114 700 5 c.700G>T D234Y missense mutation Shabbeer (2002) Classic 0.270
1115 700 5 c.700G>T D234Y missense mutation Saito (2013) Classic 0.270
1116 702 5 c.702T>G D234E missense mutation Shabbeer (2005) F 0.043
1117 702 5 c.702T>G D234E missense mutation Shabbeer (2006) Classic 0.043
1118 702 5 c.702T>G D234E missense mutation Saito (2013) Classic 0.043
1119 704 5 c.704C>G S235C missense mutation Topaloglu (1999) Classic 0.004
1120 704 5 c.704C>G S235C missense mutation Saito (2013) Classic 0.004
1121 704 5 c.704C>G S235C missense mutation Wu (2011) 0.004
1122 704 5 c.704C>G S235C missense mutation Garman (2002) Severe 0.004
1123 704 5 c.704C>T S235F missense mutation Shimotori (2008) Classic Japanese 0.004
1124 704 5 c.704C>T S235F missense mutation Saito (2013) Classic 0.004
1125 706 5 c.706T>C W236R missense mutation Shabbeer (2006) Classic 0.025
1126 706 5 c.706T>C W236R missense mutation Saito (2013) Classic 0.025
1127 706 5 c.706T>C W236R missense mutation Shin (2008) Classic 0.025
1128 707 5 c.707G>T W236L missense mutation Topaloglu (1999) Classic 0.005
1129 707 5 c.707G>T W236L missense mutation Saito (2013) Classic 0.005
1130 707 5 c.707G>T W236L missense mutation Garman (2002) Severe 0.005
1131 707 5 c.707G>A W236X nonsense mutation Germain (2002) Classic M 32 British
1132 707 5 c.707G>A W236X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1133 707 5 c.707G>A W236X nonsense mutation Tahir (2007)
1134 707 5 c.707G>A W236X nonsense mutation Zhang (2007)
1135 708 5 c.708G>C W236C missense mutation Davies (1996) Hetero F German 0.012
1136 708 5 c.708G>C W236C missense mutation Lukas (2013) Classic 0.012
1137 708 5 c.708G>C W236C missense mutation Saito (2013) Classic 0.012
1138 708 5 c.708G>C W236C missense mutation Morrone (2003) Classic Italian 0.012
1139 708 5 c.708G>C W236C missense mutation Garman (2002) Severe 0.012
1140 709 5 c.709A>T K237X nonsense mutation Tura_a (2012) F
1141 713 5 c.713G>A S238N missense mutation Monserrat (2007) late-onset 0.045
1142 713 5 c.713G>A S238N missense mutation Lukas (2013) Variant 0.045
1143 716 5 c.716T>C I239T missense mutation Kotanko (2004) classic Austrian 0.107
1144 716 5 c.716dupT duplication Cooper (2000)
1145 718 5 c.718 K240X nonsense mutation Altarescu (2001)
1146 718 5 c.718 K240X nonsense mutation Branton (2002)
1147 718 5 c.718_719delAA deletion Davies (1994)
1148 719 5 c.719delA deletion Lukas (2013)
1149 719 5 c.719dupA duplication Davies (1993)
1150 722 5 c.722delG deletion Kwan (2007)
1151 723 5 c.723dupT duplication Burlina (2008)
1152 724 5 c.724A>T I242F missense mutation Kwan (2007) 0.085 the full paper was not found
1153 725 5 c.725T>A I242N missense mutation Takata (1997) Classic Japanese 0.033
1154 725 5 c.725T>A I242N missense mutation Lukas (2013) Classic 0.033
1155 725 5 c.725T>A I242N missense mutation Utsumi (2009) Classic M 19 Japanese 0.033
1156 725 5 c.725T>A I242N missense mutation Garman (2002) Severe 0.033
1157 728 5 c.728T>A L243X nonsense mutation Bouwman (2013)
1158 728 5 c.728T>G L243W missense mutation Rozenfeld (2006) Classic Argentina 0.061
1159 729 5 c.729G>C L243F missense mutation Germain (2002) Classic M 37 French 0.013
1160 730 5 c.730G>A D244N missense mutation Eng (1994) Classic French Canadian 0.037
1161 730 5 c.730G>A D244N missense mutation Saito (2013) Classic 0.037
1162 730 5 c.730G>A D244N missense mutation Siekierska (2012) 0.037
1163 730 5 c.730G>A D244N missense mutation Glass (2004) Classic M 0.037
1164 730 5 c.730G>A D244N missense mutation Glass (2004) Hetero F 0.037
1165 730 5 c.730G>A D244N missense mutation Garman (2002) Severe 0.037
1166 730 5 c.730G>A D244N missense mutation Wu (2011) 0.037
1167 730 5 c.730G>C D244H missense mutation Topaloglu (1999) Hetero 0.122
1168 730 5 c.730G>C D244H missense mutation Andreotti (2011) Classic 0.122
1169 730 5 c.730G>C D244H missense mutation Saito (2013) Hetero 0.122
1170 730 5 c.730G>C D244H missense mutation Garman (2002) Severe 0.122
1171 732 5 c.732delC deletion Kwan (2007)
1172 734 5 c.734_742dupGGACATCTT duplication Guffon (1998)
1173 735 5 c.735G>A W245X nonsense mutation Germain (2002) Classic M 50 French
1174 735 5 c.735G>A W245X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1175 735 5 c.735G>A W245X nonsense mutation Garman (2002) Severe
1176 735 5 c.735G>A W245X nonsense mutation Liu (2006) the source paper was not written in English.
1177 735 5 c.735G>A W245X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1178 739 5 c.739T>C S247P missense mutation Ashley (2001) Classic 0.041
1179 739 5 c.739T>C S247P missense mutation Garman (2002) Severe 0.041
1180 740 5 c.740C>G S247C missense mutation Germain (2002) Variant M 64 French 0.004
1181 742 5 c.742 S248X nonsense mutation Pasqualim (2014) F S148? F248.
1182 743 5 c.743_744delTT deletion Lukas (2013)
1183 744 5 c.744_745delTA deletion Schafer (2005)
1184 746 5 c.746_747delAC deletion Erdos (2008)
1185 747 5 c.747C>A N249K missense mutation Duro (2014) Classic 0.121
1186 748 5 c.748C>T Q250X nonsense mutation Ashley (2001) Classic M
1187 748 5 c.748C>T Q250X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1188 748 5 c.748C>T Q250X nonsense mutation Germain (2002) Classic M 53 French
1189 748 5 c.748C>T Q250X nonsense mutation Altarescu (2001)
1190 748 5 c.748C>T Q250X nonsense mutation Glass (2004) Classic M
1191 748 5 c.748C>T Q250X nonsense mutation Garman (2002) Severe
1192 748 5 c.748C>T Q250X nonsense mutation Branton (2002)
1193 749 5 c.749A>C Q250P missense mutation Nagasaki (2008) Classic 0.064
1194 749 5 c.749A>C Q250P missense mutation Tsuboi (2012) 0.064
1195 751 5 c.751G>T E251X nonsense mutation Altarescu (2001)
1196 751 5 c.751G>T E251X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1197 751 5 c.751G>T E251X nonsense mutation Branton (2002)
1198 755 5 c.755G>C R252T missense mutation Lukas (2013) 0.036
1199 758 5 c.758T>G I253S missense mutation Lukas (2013) 0.019
1200 758 5 c.758T>C I253T missense mutation Scott (2013) 0.026
1201 759 5 c.759delT deletion Nagasaki (2008)
1202 760 5 c.760dupG duplication Schafer (2005)
1203 761 5 c.761_762delTT deletion Sirrs (2010)
1204 769 5 c.769G>C A257P missense mutation Cooper (2000) 0.044 the full paper was not found
1205 772 5 c.772G>C G258R missense mutation Blaydon (2001) Female European 0.101
1206 772 5 c.772G>C G258R missense mutation Saito (2013) Hetero 0.101
1207 772 5 c.772G>C G258R missense mutation Garman (2002) Severe 0.101
1208 773 5 c.773G>T G258V missense mutation Shimotori (2008) Classic Japanese 0.086
1209 773 5 c.773G>T G258V missense mutation Saito (2013) Classic 0.086
1210 774 5 c.774_775delAC deletion Eng (1993)
1211 776 5 c.776C>G P259R missense mutation Ashley (2001) Classic 0.157
1212 776 5 c.776C>G P259R missense mutation Pasqualim (2014) F 0.157
1213 776 5 c.776C>G P259R missense mutation Wu (2011) 0.157
1214 776 5 c.776C>G P259R missense mutation Shin (2008) Variant 0.157
1215 776 5 c.776C>G P259R missense mutation Shabbeer (2006) Classic 0.157
1216 776 5 c.776C>G P259R missense mutation Blaydon (2001) Classic 0.157
1217 776 5 c.776C>G P259R missense mutation Garman (2002) Severe 0.157
1218 776 5 c.776C>T P259L missense mutation Topaloglu (1999) Cardiac 0.030
1219 776 5 c.776C>T P259L missense mutation Garman (2002) Severe 0.030
1220 776 5 c.776delC deletion Lukas (2013)
1221 777 5 c.777delA deletion Eng (1997) classic
1222 779 5 c.779G>C G260A missense mutation Okumiya (1995) Classic Japanese 0.009
1223 779 5 c.779G>C G260A missense mutation Shimotori (2008) Classic Japanese 0.009
1224 779 5 c.779G>C G260A missense mutation Takata (1997) Classic 0.009
1225 779 5 c.779G>C G260A missense mutation Garman (2002) Severe 0.009
1226 779 5 c.779G>A G260E missense mutation Mignani (2008) 0.110
1227 782 5 c.782G>A G261D missense mutation Takata (1997) Classic Japanese 0.204
1228 782 5 c.782G>A G261D missense mutation Shin (2008) Classic 0.204
1229 782 5 c.782G>A G261D missense mutation Altarescu (2001) 0.204
1230 782 5 c.782G>A G261D missense mutation Ashley (2001) Classic M 0.204
1231 782 5 c.782G>A G261D missense mutation Garman (2002) Severe 0.204
1232 782 5 c.782G>A G261D missense mutation Branton (2002) 0.204
1233 782 5 c.782G>T G261V missense mutation Lukas (2013) 0.149
1234 782 5 c.782dupG duplication Germain (2002)
1235 785 5 c.785G>A W262X nonsense mutation Shabbeer (2006) Classic
1236 785 5 c.785G>A W262X nonsense mutation Lukas (2013)
1237 785 5 c.785G>A W262X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1238 785 5 c.785G>A W262X nonsense mutation Garman (2002) Severe
1239 786 5 c.786G>C W262C missense mutation Schafer (2005) 0.030
1240 786 5 c.786G>C W262C missense mutation Lukas (2013) 0.030
1241 788 5 c.788A>G N263S missense mutation Eng (1997) Classic 0.040
1242 788 5 c.788A>G N263S missense mutation Wu (2011) 0.040
1243 788 5 c.788A>G N263S missense mutation Glass (2004) Classic M 0.040
1244 788 5 c.788A>G N263S missense mutation Garman (2002) Severe 0.040
1245 790 5 c.790G>A D264N missense mutation Lukas (2013) 0.198
1246 790 5 c.790G>C D264H missense mutation Lukas (2013) 0.177
1247 790 5 c.790G>T D264Y missense mutation Shabbeer (2005) classic M 0.087
1248 790 5 c.790G>T D264Y missense mutation Shabbeer (2006) Classic 0.087 with V269M.
1249 790 5 c.790G>T D264Y missense mutation Lukas (2013) Classic 0.087
1250 790 5 c.790G>T D264Y missense mutation Pasqualim (2014) F 0.087
1251 790 5 c.790G>T D264Y missense mutation Saito (2013) Classic 0.087
1252 791 5 c.791A>C D264A missense mutation Lukas (2013) 0.187
1253 791 5 c.791A>G D264G missense mutation Lukas (2013) 0.222
1254 791 5 c.791A>T D264V missense mutation Eng (1993) Classic Scottish/Irish 0.097
1255 791 5 c.791A>T D264V missense mutation Lukas (2013) Classic 0.097
1256 791 5 c.791A>T D264V missense mutation Saito (2013) Classic 0.097
1257 791 5 c.791A>T D264V missense mutation Eng (1994)_2 Classic Scottish/English 0.097
1258 791 5 c.791A>T D264V missense mutation Garman (2002) Severe 0.097
1259 791 5 c.791A>T D264V missense mutation Wu (2011) 0.097
1260 792 5 c.792C> D264E missense mutation Lukas (2013) 0.056
1261 794 5 c.794C>G P265R missense mutation Germain (1996) M/F 0.162
1262 794 5 c.794C>G P265R missense mutation Siekierska (2012) 0.162
1263 794 5 c.794C>G P265R missense mutation Garman (2002) Severe 0.162
1264 794 5 c.794C>T P265L missense mutation Schafer (2005) 0.173
1265 796 5 c.796G>A D266N missense mutation Lee (2000) Classic M 16- Korean 0.059
1266 796 5 c.796G>A D266N missense mutation Andreotti (2011) 0.059
1267 796 5 c.796G>A D266N missense mutation Park (2009) Classic 0.059
1268 796 5 c.796G>A D266N missense mutation Saito (2013) Classic 0.059
1269 796 5 c.796G>A D266N missense mutation Lee (2010) Classic Korean 0.059
1270 796 5 c.796G>A D266N missense mutation Garman (2002) Severe 0.059
1271 796 5 c.796G>C D266H missense mutation Ashton-Prolla (2000) Hetero 0.199
1272 796 5 c.796G>C D266H missense mutation Saito (2013) Hetero 0.199
1273 796 5 c.796G>C D266H missense mutation Garman (2002) Severe 0.199
1274 796 5 c.796G>T D266Y missense mutation Erdos (2008) 0.047
1275 796 5 c.796G>T D266Y missense mutation Saito (2013) Classic 0.047
1276 797 5 c.797A>C D266A missense mutation Tian (2013) 0.024 the source paper was not written in English.
1277 797 5 c.797A>T D266V missense mutation Eng (1993) Classic African-American 0.039
1278 797 5 c.797A>T D266V missense mutation Saito (2013) Classic 0.039
1279 797 5 c.797A>T D266V missense mutation Siekierska (2012) 0.039
1280 797 5 c.797A>T D266V missense mutation Eng (1994)_2 Classic 0.039
1281 797 5 c.797A>T D266V missense mutation Glass (2004) Classic M 0.039
1282 797 5 c.797A>T D266V missense mutation Glass (2004) Hetero F 0.039
1283 797 5 c.797A>T D266V missense mutation Garman (2002) Severe 0.039
1284 797 5 c.797A>T D266V missense mutation Wu (2011) 0.039
1285 798 5 c.798T>A D266E missense mutation Germain (2002) Severe Classic M 31 French 0.061
1286 798 5 c.798T>A D266E missense mutation Saito (2013) Classic 0.061
1287 800 5 c.800T>G M267R missense mutation Saito (2013) Classic 0.097
1288 800 5 c.800T>C M267T missense mutation Lukas (2013) 0.067
1289 801 5 c.801G>A M267I missense mutation Topaloglu (1999) Classic 0.095
1290 801 5 c.801G>A M267I missense mutation Saito (2013) Classic 0.095
1291 801 5 c.801G>A M267I missense mutation Siekierska (2012) 0.095
1292 801 5 c.801G>A M267I missense mutation Blaydon (2001) Classic 0.095
1293 801 5 c.801G>A M267I missense mutation Garman (2002) Severe 0.095
1294 801 5 c.801+2T>C splicing Blaydon (2001)
1295 801 5 c.801+3A>G splicing Shabbeer (2006)
1296 801 5 c.801+4A>G splicing Shabbeer (2006)
1297 802 6 c.802-3_802-2delCA deletion Eng (1993)
1298 802 6 c.802-2A>G splicing Shabbeer (2006)
1299 803 6 c.803T>C L268S missense mutation Schafer (2005) 0.024
1300 803 6 c.803T>C L268S missense mutation Lukas (2013) Classic 0.024
1301 803 6 c.803T>C L268S missense mutation Bouwman (2013) 0.024
1302 803 6 c.803delT deletion Lukas (2013)
1303 803 6 c.803_806delTAGT deletion Lee (2000)
1304 804 6 c.804_806delAGT deletion Park (2009)
1305 805 6 c.805G>A V269M missense mutation Shabbeer (2006) Classic 0.104 with D264Y.
1306 805 6 c.805G>A V269M missense mutation Andreotti (2011) Classic 0.104
1307 805 6 c.805G>A V269M missense mutation Lukas (2013) Classic 0.104
1308 805 6 c.805G>A V269M missense mutation Saito (2013) Classic 0.104
1309 805 6 c.805G>A V269M missense mutation Mignani (2008) 0.104
1310 805 6 c.805G>A V269M missense mutation Pasqualim (2014) F 0.104
1311 806 6 c.806T>C V269A missense mutation Davies (1993) Classic 0.029
1312 806 6 c.806T>C V269A missense mutation Lukas (2013) Classic 0.029
1313 806 6 c.806T>C V269A missense mutation Saito (2013) Classic 0.029
1314 806 6 c.806T>C V269A missense mutation Eng (1994)_2 Classic English 0.029
1315 806 6 c.806T>C V269A missense mutation Garman (2002) Severe 0.029
1316 807 6 c.807delG deletion Kwan (2007)
1317 809 6 c.809T>C I270T missense mutation Schafer (2005) 0.037
1318 809 6 c.809T>C I270T missense mutation Tsuboi (2012) 0.037
1319 810 6 c.810T>G I270M missense mutation Lukas (2013) 0.048
1320 811 6 c.811G>T G271C missense mutation Shabbeer (2002) Classic 0.066
1321 811 6 c.811G>T G271C missense mutation Saito (2013) Classic 0.066
1322 811 6 c.811G>T G271C missense mutation Wu (2011) 0.066
1323 811 6 c.811G>T G271C missense mutation Shin (2008) Classic 0.066
1324 811 6 c.811G>A G271S missense mutation Shabbeer (2006) Classic 0.057
1325 811 6 c.811G>A G271S missense mutation Saito (2013) Classic 0.057
1326 811 6 c.811G>A G271S missense mutation Havndrup (2010) Hetero F 0.057
1327 812 6 c.812G>T G271V missense mutation Shabbeer (2006) Classic 0.149
1328 812 6 c.812G>T G271V missense mutation Saito (2013) Classic 0.149
1329 812 6 c.812G>T G271V missense mutation Wu (2011) 0.149
1330 815 6 c.815A>G N272S missense mutation Verovnik (2004) Classic Slovenian 0.013
1331 815 6 c.815A>G N272S missense mutation Lukas (2013) Classic 0.013
1332 816 6 c.816C>A N272K missense mutation Eng (1994) Classic Polish 0.065
1333 816 6 c.816C>A N272K missense mutation Saito (2013) Classic 0.065
1334 816 6 c.816C>A N272K missense mutation Wu (2011) 0.065
1335 816 6 c.816C>A N272K missense mutation Shin (2008) Classic 0.065
1336 816 6 c.816C>A N272K missense mutation Glass (2004) Classic M 0.065
1337 816 6 c.816C>A N272K missense mutation Glass (2004) F 0.065
1338 816 6 c.816C>A N272K missense mutation Garman (2002) Severe 0.065
1339 819 6 c.819T>A F273L missense mutation Lukas (2013) Variant 0.003
1340 819 6 c.819T>A F273L missense mutation Zhang (2007) Chinese 0.003
1341 820 6 c.820G>A G274S missense mutation Mignani (2008) 0.015
1342 823 6 c.823C>T L275F missense mutation Dobrovolny (2008) 0.069 the full paper was not found
1343 823 6 c.823C>T L275F missense mutation Lukas (2013) 0.069
1344 823 6 c.823C>T L275F missense mutation Okur (2013) M 0.069
1345 824 6 c.824T>A L275H missense mutation Lukas (2013) 0.059
1346 826 6 c.826A>G S276G missense mutation Shabbeer (2005) F 0.005
1347 826 6 c.826A>G S276G missense mutation Shabbeer (2006) Classic 0.005
1348 826 6 c.826A>G S276G missense mutation Wu (2011) 0.005
1349 826 6 c.826A>G S276G missense mutation Shin (2008) Classic 0.005
1350 827 6 c.827G>A S276N missense mutation Schafer (2005) 0.013
1351 830 6 c.830G>A W277X nonsense mutation Topaloglu (1999) Classic
1352 830 6 c.830G>A W277X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1353 830 6 c.830G>A W277X nonsense mutation Altarescu (2001)
1354 830 6 c.830G>A W277X nonsense mutation Garman (2002) Severe
1355 830 6 c.830G>A W277X nonsense mutation Branton (2002)
1356 833 6 c.833dupA duplication Ashton-Prolla (2000)
1357 835 6 c.835C>G Q279E missense mutation Ishii (1992) Atypical Variant Japanese 0.035
1358 835 6 c.835C>G Q279E missense mutation Ebrahim (2012) Late-onset 0.035
1359 835 6 c.835C>G Q279E missense mutation Ishii (2007) Variant 0.035
1360 835 6 c.835C>G Q279E missense mutation Saito (2013) Later-onset 0.035
1361 835 6 c.835C>G Q279E missense mutation Okumiya (1995) Classic 0.035
1362 835 6 c.835C>G Q279E missense mutation Nakao (1995) Atypical Variant 0.035
1363 835 6 c.835C>G Q279E missense mutation Eng (1994)_2 Mild Japanese 0.035
1364 835 6 c.835C>G Q279E missense mutation Takata (1997) Variant 0.035
1365 835 6 c.835C>G Q279E missense mutation Garman (2002) Mild 0.035
1366 835 6 c.835C>G Q279E missense mutation Wu (2011) 0.035
1367 835 6 c.835C>G Q279E missense mutation Ishii (2012) 0.035
1368 835 6 c.835C>A Q279K missense mutation Burlina (2008) 0.034
1369 836 6 c.836A>G Q279R missense mutation Rodriguez-Mari (2003) F Spanish 0.061
1370 836 6 c.836A>G Q279R missense mutation Saito (2013) Classic 0.061
1371 837 6 c.837G>C Q279H missense mutation Blaydon (2001) European 0.094
1372 837 6 c.837G>C Q279H missense mutation Saito (2013) Classic 0.094
1373 837 6 c.837G>C Q279H missense mutation Garman (2002) Severe 0.094
1374 837 6 c.837G>C Q279H missense mutation Burlina (2008) 0.094
1375 837 6 c.837G>C Q279H missense mutation Saito (2013) Classic 0.094
1376 838 6 c.838C>A Q280K missense mutation Dobrovolny (2005) Classical Czech and Slovak 0.040
1377 838 6 c.838C>A Q280K missense mutation Andreotti (2011) Classic 0.040
1378 838 6 c.838C>A Q280K missense mutation Saito (2013) Classic 0.040
1379 838 6 c.838C>T Q280X nonsense mutation Lukas (2013)
1380 840 6 c.840A>T Q280H missense mutation Blaydon (2001) Female European 0.079
1381 840 6 c.840A>T Q280H missense mutation Saito (2013) Hetero 0.079
1382 840 6 c.840A>T Q280H missense mutation Garman (2002) Severe 0.079
1383 842 6 c.842_844delTAA deletion Ashley (2001)
1384 844 6 c.844A>G T282A missense mutation Shimotori (2008) Classic Japanese 0.008
1385 844 6 c.844A>G T282A missense mutation Saito (2013) Classic 0.008
1386 845 6 c.845C>A T282N missense mutation Ashley (2001) Classic M 0.023
1387 845 6 c.845C>A T282N missense mutation Saito (2013) Classic 0.023
1388 845 6 c.845C>A T282N missense mutation Garman (2002) Severe 0.023
1389 845 6 c.845C>T T282I missense mutation Lukas (2013) 0.020
1390 847 6 c.847C>T Q283X nonsense mutation Koskenvuo (2009)
1391 847 6 c.847C>T Q283X nonsense mutation Laaksonen (2008)
1392 847 6 c.847C>T Q283X nonsense mutation Tahir (2007)
1393 848 6 c.848A>C Q283P missense mutation Shabbeer (2006) Classic 0.160
1394 848 6 c.848A>C Q283P missense mutation Lukas (2013) Classic 0.160
1395 851 6 c.851T>C M284T missense mutation Blanch (1996) Classic 0.010
1396 851 6 c.851T>C M284T missense mutation Garman (2002) Severe 0.010
1397 853 6 c.853G>C A285P missense mutation Shabbeer (2005) F 0.043
1398 853 6 c.853G>C A285P missense mutation Saito (2013) Classic 0.043
1399 854 6 c.854C>A A285D missense mutation Shabbeer (2006) Classic 0.041
1400 854 6 c.854C>A A285D missense mutation Lukas (2013) Classic 0.041
1401 854 6 c.854C>A A285D missense mutation Saito (2013) Classic 0.041
1402 859 6 c.859T>G W287G missense mutation Davies (1996) F British 0.026
1403 859 6 c.859T>G W287G missense mutation Saito (2013) Classic 0.026
1404 859 6 c.859T>G W287G missense mutation Garman (2002) Severe 0.026
1405 861 6 c.861G>T W287C missense mutation Ashton-Prolla (2000) Classic 0.028
1406 861 6 c.861G>T W287C missense mutation Saito (2013) Classic 0.028
1407 861 6 c.861G>T W287C missense mutation Wu (2011) 0.028
1408 861 6 c.861G>T W287C missense mutation Eng (1997) Classic 0.028
1409 861 6 c.861G>T W287C missense mutation Germain (2002) Classic M 29 British 0.028
1410 861 6 c.861G>T W287C missense mutation Shin (2008) Classic 0.028
1411 861 6 c.861G>T W287C missense mutation Glass (2004) Classic M 0.028
1412 861 6 c.861G>T W287C missense mutation Garman (2002) Severe 0.028
1413 861 6 c.861G>A W287X nonsense mutation Burlina (2008)
1414 861 6 c.861G>A W287X nonsense mutation Lukas (2013)
1415 861 6 c.861G>A W287X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1416 861 6 c.861G>A W287X nonsense mutation Davies (1993) Classic
1417 861 6 c.861G>A W287X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1418 861 6 c.861G>A W287X nonsense mutation Eng (1994)_2 Classic English
1419 861 6 c.861G>A W287X nonsense mutation Garman (2002) Severe
1420 862 6 c.862G>C A288P missense mutation Shabbeer (2002) Classic 0.068
1421 862 6 c.862G>C A288P missense mutation Saito (2013) Classic 0.068
1422 862 6 c.862G>C A288P missense mutation Wu (2011) 0.068
1423 863 6 c.863C>A A288D missense mutation Eng (1994) Classic German 0.106
1424 863 6 c.863C>A A288D missense mutation Saito (2013) Classic 0.106
1425 863 6 c.863C>A A288D missense mutation Siekierska (2012) 0.106
1426 863 6 c.863C>A A288D missense mutation Garman (2002) Severe 0.106
1427 865 6 c.865A>T I289F missense mutation Topaloglu (1999) Classic 0.181
1428 865 6 c.865A>T I289F missense mutation Wu (2011) 0.181
1429 865 6 c.865A>T I289F missense mutation Garman (2002) Severe 0.181
1430 866 6 c.866T>G I289S missense mutation Rakoczi (2007) 0.009 the source paper was not written in English.
1431 866 6 c.866T>G I289S missense mutation Erdos (2008) 0.009
1432 868 6 c.868A>C M290L missense mutation Ferri (2012) 0.014
1433 868 6 c.868A>C M290L missense mutation Andreotti (2011) 0.014
1434 868 6 c.868A>C M290L missense mutation Lukas (2013) 0.014
1435 870 6 c.870G>A M290I missense mutation Shabbeer (2006) Classic 0.031
1436 870 6 c.870G>A M290I missense mutation Lukas (2013) Classic 0.031
1437 870 6 c.870G>A M290I missense mutation Siekierska (2012) 0.031
1438 871 6 c.871G>A A291T missense mutation Zhang (2007) 0.031
1439 871 6 c.871G>A A291T missense mutation Lukas (2013) 0.031
1440 871 6 c.871G>A A291T missense mutation Erdos (2008) 0.031
1441 874 6 c.874G>C A292P missense mutation Wang (2005) 0.051 the source paper was not written in English.
1442 874 6 c.874G>A A292T missense mutation Spanu (2007) 0.017
1443 875 6 c.875C>T A292V missense mutation Tura_a (2012) M 0.044
1444 875 6 c.875C>T A292V missense mutation Pereira (2014) 0.044
1445 877 6 c.877C>G P293A missense mutation Shabbeer (2002) Classic 0.069
1446 877 6 c.877C>G P293A missense mutation Saito (2013) Classic 0.069
1447 877 6 c.877C>T P293S missense mutation Cooper (2000) 0.072 the full paper was not found
1448 877 6 c.877C>A P293T missense mutation Shabbeer (2006) Classic 0.032
1449 877 6 c.877C>A P293T missense mutation Saito (2013) Classic 0.032
1450 877 6 c.877C>A P293T missense mutation Siekierska (2012) 0.032
1451 878 6 c.878C>T P293L missense mutation Sirrs (2010) 0.078
1452 881 6 c.881T>C L294S missense mutation Lukas (2013) 0.017
1453 881 6 c.881T>G L294X nonsense mutation Blaydon (2001) Classic European
1454 881 6 c.881T>G L294X nonsense mutation Lukas (2013)
1455 881 6 c.881T>G L294X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1456 881 6 c.881T>G L294X nonsense mutation Dobrovolny (2005) Classical
1457 881 6 c.881T>G L294X nonsense mutation Garman (2002) Severe
1458 884 6 c.884T>G F295C missense mutation Shin (2008) Variant 0.022
1459 884 6 c.884T>G F295C missense mutation Wu (2011) 0.022
1460 884 6 c.884delT deletion Dobrovolny (2008)
1461 886 6 c.886A>T M296L missense mutation Niu (2010) 0.006
1462 886 6 c.886A>T M296L missense mutation Lin (2009) Unknown 0.006
1463 886 6 c.886A>T M296L missense mutation Lee (2014) Taiwan 0.006
1464 886 6 c.886A>T M296L missense mutation Lin (2010) 0.006
1465 886 6 c.886A>G M296V missense mutation von Scheidt (1991) Atypical M 54 0.022
1466 886 6 c.886A>G M296V missense mutation Ishii (2007) Variant 0.022
1467 886 6 c.886A>G M296V missense mutation Saito (2013) Later-onset 0.022
1468 886 6 c.886A>G M296V missense mutation Eng (1994)_2 Mild German 0.022
1469 886 6 c.886A>G M296V missense mutation Garman (2002) Mild 0.022
1470 886 6 c.886A>G M296V missense mutation Wu (2011) 0.022
1471 888 6 c.888G>A M296I missense mutation Nakao (1995) Atypical Variant Japanese 0.018
1472 888 6 c.888G>A M296I missense mutation Ishii (2007) Variant 0.018
1473 888 6 c.888G>A M296I missense mutation Saito (2013) Later-onset 0.018
1474 888 6 c.888G>A M296I missense mutation Okumiya (1995) Classic 0.018
1475 888 6 c.888G>A M296I missense mutation Doi (2012) Later-onset Japanese 0.018
1476 888 6 c.888G>A M296I missense mutation Takata (1997) Variant 0.018
1477 888 6 c.888G>A M296I missense mutation Garman (2002) Mild 0.018
1478 888 6 c.888G>A M296I missense mutation Wu (2011) 0.018
1479 890 6 c.890C>G S297C missense mutation Germain (2002) Classic M 20 Belgian 0.011
1480 890 6 c.890C>G S297C missense mutation Lukas (2013) Classic 0.011
1481 890 6 c.890C>G S297C missense mutation Saito (2013) Classic 0.011
1482 890 6 c.890C>G S297C missense mutation Garman (2002) Severe 0.011
1483 890 6 c.890C>T S297F missense mutation Eng (1993) Classic Italian 0.145
1484 890 6 c.890C>T S297F missense mutation Andreotti (2011) 0.145
1485 890 6 c.890C>T S297F missense mutation Saito (2013) Classic 0.145
1486 890 6 c.890C>T S297F missense mutation Lee (2010) Classic Korean 0.145
1487 890 6 c.890C>T S297F missense mutation Eng (1994)_2 Classic Italian 0.145
1488 890 6 c.890C>T S297F missense mutation Garman (2002) Severe 0.145
1489 892 6 c.892A>C N298H missense mutation Davies (1996) F British 0.089
1490 892 6 c.892A>C N298H missense mutation Saito (2013) Hetero 0.089
1491 892 6 c.892A>C N298H missense mutation Blaydon (2001) Classic 0.089
1492 892 6 c.892A>C N298H missense mutation Garman (2002) Severe 0.089
1493 892 6 c.892_893insT insertion Topaloglu (1999) classic
1494 893 6 c.893A>G N298S missense mutation Eng (1997) Classic 0.029
1495 893 6 c.893A>G N298S missense mutation Saito (2013) Classic 0.029
1496 893 6 c.893A>G N298S missense mutation Garman (2002) Severe 0.029
1497 893 6 c.893A>G N298S missense mutation Vedder (2007) Dutch 0.029
1498 893 6 c.893_894insG insertion Ashley (2001) classic
1499 894 6 c.894T>G N298K missense mutation Blanch (1996) Classic 0.092
1500 894 6 c.894T>G N298K missense mutation Saito (2013) Classic 0.092
1501 894 6 c.894T>G N298K missense mutation Ashton-Prolla (2000) Classic 0.092
1502 894 6 c.894T>G N298K missense mutation Garman (2002) Severe 0.092
1503 894 6 c.894T>G N298K missense mutation Sadick (2007) 0.092
1504 896 6 c.896A>G D299G missense mutation Kwan (2007) 0.368 the full paper was not found
1505 896 6 c.896A>T D299V missense mutation Tsuboi (2015) M 5-26 Presumably Japanese 0.175
1506 896 6 c.896A>T D299V missense mutation Tsuboi (2015) F 55-62 Presumably Japanese 0.175
1507 897 6 c.897C>G D299E missense mutation Linthorst (2003) 0.033
1508 898 6 c.898C>T L300F missense mutation Shabbeer (2005) M 0.029
1509 898 6 c.898C>T L300F missense mutation Andreotti (2011) ? 0.029 ? In the source paper
1510 899 6 c.899T>A L300H missense mutation Schafer (2005) 0.075
1511 899 6 c.899T>C L300P missense mutation Shin (2008) Variant 0.007
1512 899 6 c.899T>C L300P missense mutation Shin (2007) 0.007
1513 899 6 c.899T>C L300P missense mutation Wu (2011) 0.007
1514 901 6 c.901C>G R301G missense mutation Lai (2001) 0.148
1515 901 6 c.901C>G R301G missense mutation Lukas (2013) Classic 0.148
1516 901 6 c.901C>G R301G missense mutation Shabbeer (2002) Classic 0.148
1517 901 6 c.901C>T R301X nonsense mutation Eng (1994) Classic English
1518 901 6 c.901C>T R301X nonsense mutation Lukas (2013) Classic
1519 901 6 c.901C>T R301X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1520 901 6 c.901C>T R301X nonsense mutation Germain (2002) F 48 French Canadian
1521 901 6 c.901C>T R301X nonsense mutation Takata (1997) Classic
1522 901 6 c.901C>T R301X nonsense mutation Glass (2004) Classic M
1523 901 6 c.901C>T R301X nonsense mutation Auray-Blais (2015) Classic M Children
1524 901 6 c.901C>T R301X nonsense mutation Blaydon (2001) Joint pains
1525 901 6 c.901C>T R301X nonsense mutation Blaydon (2001)
1526 901 6 c.901C>T R301X nonsense mutation Garman (2002) Severe
1527 901 6 c.901C>T R301X nonsense mutation Lee (2014) Classic Taiwan
1528 901 6 c.901C>T R301X nonsense mutation Bouwman (2013)
1529 901 6 c.901C>T R301X nonsense mutation Erdos (2008)
1530 902 6 c.902G>A R301Q missense mutation Sakuraba (1990) Atypical Japanese 0.126
1531 902 6 c.902G>A R301Q missense mutation Ishii (2007) Variant 0.126
1532 902 6 c.902G>A R301Q missense mutation Ishii (2012) 0.126
1533 902 6 c.902G>A R301Q missense mutation Saito (2013) Later-onset 0.126
1534 902 6 c.902G>A R301Q missense mutation Germain (2002) Intermediate M 60 French 0.126
1535 902 6 c.902G>A R301Q missense mutation Lee (2010) Classic Korean 0.126
1536 902 6 c.902G>A R301Q missense mutation Ishii (1992) Atypical Variant Japanese 0.126
1537 902 6 c.902G>A R301Q missense mutation Okumiya (1995) Classic 0.126
1538 902 6 c.902G>A R301Q missense mutation Shin (2007) 0.126
1539 902 6 c.902G>A R301Q missense mutation Nakao (1995) Atypical Variant 0.126
1540 902 6 c.902G>A R301Q missense mutation Eng (1994)_2 Mild Japanese 0.126
1541 902 6 c.902G>A R301Q missense mutation Altarescu (2001) 0.126
1542 902 6 c.902G>A R301Q missense mutation Ashton-Prolla (2000) Classic 0.126
1543 902 6 c.902G>A R301Q missense mutation Takata (1997) Variant 0.126
1544 902 6 c.902G>A R301Q missense mutation Glass (2004) Hetero F 0.126
1545 902 6 c.902G>A R301Q missense mutation Nagasaki (2008) Hetero F 0.126
1546 902 6 c.902G>A R301Q missense mutation Auray-Blais (2015) Atypical phenotype M Children 0.126
1547 902 6 c.902G>A R301Q missense mutation Garman (2002) Mild 0.126
1548 902 6 c.902G>A R301Q missense mutation Germain (1999) Classic 0.126
1549 902 6 c.902G>A R301Q missense mutation Lee (2014) non-Classic Taiwan 0.126
1550 902 6 c.902G>A R301Q missense mutation Madsen (1995) Danish 0.126
1551 902 6 c.902G>A R301Q missense mutation Rosenberg (1999) 0.126
1552 902 6 c.902G>A R301Q missense mutation Lukas (2013) 0.126
1553 902 6 c.902G>A R301Q missense mutation Wu (2011) 0.126
1554 902 6 c.902G>A R301Q missense mutation Zhang (2007) 0.126
1555 902 6 c.902G>A R301Q missense mutation Branton (2002) 0.126
1556 902 6 c.902G>A R301Q missense mutation Liao (2014) Classic nevborn Taiwan 0.126
1557 902 6 c.902G>C R301P missense mutation Ashley (2001) Classic M 0.074
1558 902 6 c.902G>C R301P missense mutation Andreotti (2011) Classic 0.074
1559 902 6 c.902G>C R301P missense mutation Lukas (2013) Classic 0.074
1560 902 6 c.902G>C R301P missense mutation Saito (2013) Classic 0.074
1561 902 6 c.902G>C R301P missense mutation Garman (2002) Severe 0.074
1562 902 6 c.902G>C R301P missense mutation Mills (2005) 0.074
1563 902 6 c.902dupG duplication Ashley (2001)
1564 904 6 c.904 H302X nonsense mutation Altarescu (2001)
1565 904 6 c.904 H302X nonsense mutation Branton (2002)
1566 907 6 c.907 I303X nonsense mutation Branton (2002)
1567 908 6 c.908T>A I303N missense mutation Shabbeer (2002) Classic 0.010
1568 909 6 c.909_918del10 deletion Blaydon (2001)
1569 911 6 c.911G>A S304N missense mutation Scott (2013) 0.019 S334N in the source paper
1570 911 6 c.911G>C S304T missense mutation Lee (2014) Taiwan 0.017
1571 914 6 c.914delC deletion Whybra (2001)
1572 916 6 c.916C>T Q306X nonsense mutation Shabbeer (2006) Classic
1573 916 6 c.916C>T Q306X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1574 924 6 c.924A>T K308N missense mutation Shimotori (2008) Classic Japanese 0.075
1575 928 6 c.928C>T L310F missense mutation Calado (2004) Classic 0.084
1576 928 6 c.928C>T L310F missense mutation Andreotti (2011) Classic 0.084
1577 928 6 c.928C>T L310F missense mutation Lukas (2013) Classic 0.084
1578 928 6 c.928C>T L310F missense mutation Hum Genet 2004, 115: 347 classic 0.084
1579 929 6 c.929T>G L310R missense mutation Meng (2010) 0.051 the source paper was not written in English.
1580 931 6 c.931C>T L311F missense mutation Laaksonen (2008) 0.044
1581 931 6 c.931C>G L311V missense mutation Lukas (2013) 0.069
1582 932 6 c.932T>G L311R missense mutation Suzuki (2011) M 37 Japanese 0.097
1583 932 6 c.932T>G L311R missense mutation Tsuboi (2012) 0.097
1584 934 6 c.934C>T Q312X nonsense mutation Lukas (2013)
1585 935 6 c.935A>G Q312R missense mutation Shimotori (2008) Classic Japanese 0.110
1586 936 6 c.936G>T Q312H missense mutation Shabbeer (2006) Classic 0.071 with A143T. late-onset with only A143T
1587 937 6 c.937G>T D313Y missense mutation Eng (1993) Classic German 0.095 functinal variant (polymorphism) by Prof. Sakuraba
1588 937 6 c.937G>T D313Y missense mutation Adalsteinsdottir (2014) 0.095
1589 937 6 c.937G>T D313Y missense mutation Baptista (2010) Young Portuguese 0.095
1590 937 6 c.937G>T D313Y missense mutation Guffon (1998) Classic M 10 French 0.095 with G411Y
1591 937 6 c.937G>T D313Y missense mutation Guffon (2003) Hetero 0.095 with G411D
1592 937 6 c.937G>T D313Y polymorphism Yasuda (2003) Pseudodeficiency 0.095
1593 937 6 c.937G>T D313Y missense mutation Eng (1994)_2 Classic German 0.095
1594 937 6 c.937G>T D313Y missense mutation Froissart (2003) Classic M 0.095
1595 937 6 c.937G>T D313Y missense mutation Blaydon (2001) F 0.095
1596 937 6 c.937G>T D313Y missense mutation Garman (2002) Severe 0.095
1597 937 6 c.937G>T D313Y missense mutation Mignani (2008) 0.095
1598 937 6 c.937G>T D313Y missense mutation Siekierska (2012) 0.095
1599 937 6 c.937G>T D313Y missense mutation Lukas (2013) Variant 0.095
1600 937 6 c.937G>T D313Y missense mutation Rolfs (2013) 0.095
1601 937 6 c.937G>T D313Y missense mutation De Brabander (2013) 0.095
1602 937 6 c.937G>T D313Y missense mutation Ferri (2012) 0.095
1603 937 6 c.937G>T D313Y polymorphism Niemann (2013) Pseudodeficiency 0.095
1604 938 6 c.938A>G D313G missense mutation Scott (2013) 0.100
1605 943 6 c.943 V315I missense mutation Rolfs (2013) V316I? A315
1606 946 6 c.946G>A V316I missense mutation Lukas (2013) Variant 0.014
1607 946 6 c.946delG deletion Morrone (2003) classic Itarian
1608 947 6 c.947T>A V316E missense mutation Davies (1994) Classic 0.051
1609 947 6 c.947T>A V316E missense mutation Lukas (2013) 0.051 no description about phenotype in the source paper
1610 947 6 c.947T>A V316E missense mutation Wu (2011) 0.051
1611 947 6 c.947T>A V316E missense mutation Garman (2002) Severe 0.051
1612 947 6 c.947T>G V316G missense mutation Lukas (2013) 0.003
1613 947 6 c.947dupT duplication Lukas (2013)
1614 950 6 c.950T>A I317N missense mutation Schafer (2005) 0.028
1615 950 6 c.950T>C I317T missense mutation Shabbeer (2002) Classic 0.009
1616 950 6 c.950T>C I317T missense mutation Dobrovolny (2005) Classical 0.009
1617 950 6 c.950T>C I317T missense mutation Mignani (2008) 0.009
1618 950 6 c.950T>G I317S missense mutation Tura_a (2012) M 0.037
1619 950 6 c.950_954dupTTGCC duplication Eng (1993)
1620 955 6 c.955A>T I319F missense mutation Brennan (2014) 0.096 no description about phenotype in the source paper
1621 956 6 c.956T>C I319T missense mutation Sirrs (2010) 0.022
1622 956 6 c.956T>C I319T missense mutation Lukas (2013) 0.022
1623 958 6 c.958A>T N320Y missense mutation Ashton-Prolla (2000) Classic 0.183
1624 958 6 c.958A>T N320Y missense mutation Saito (2013) Classic 0.183
1625 958 6 c.958A>T N320Y missense mutation Wu (2011) 0.183
1626 958 6 c.958A>T N320Y missense mutation Garman (2002) Severe 0.035 N320V in the source paper
1627 959 6 c.959A>T N320I missense mutation Schafer (2005) 0.063
1628 959 6 c.959A>T N320I missense mutation Lukas (2013) Classic 0.063
1629 959 6 c.959A>T N320I missense mutation Siekierska (2012) 0.063
1630 960 6 c.960T>G N320K missense mutation Okumiya (1995) Classic Japanese 0.105
1631 960 6 c.960T>G N320K missense mutation Saito (2013) Classic 0.105
1632 960 6 c.960T>G N320K missense mutation Takata (1997) Classic 0.105
1633 960 6 c.960T>G N320K missense mutation Utsumi (2009) Hetero F 41 Japanese 0.105
1634 960 6 c.960T>G N320K missense mutation Garman (2002) Severe 0.105
1635 961 6 c.961C>G Q321E missense mutation Topaloglu (1999) Classic 0.088
1636 961 6 c.961C>G Q321E missense mutation Saito (2013) Classic 0.088
1637 961 6 c.961C>G Q321E missense mutation Garman (2002) Severe 0.088
1638 961 6 c.961C>T Q321X nonsense mutation Schafer (2005)
1639 961 6 c.961C>T Q321X nonsense mutation Lukas (2013)
1640 961 6 c.961C>T Q321X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1641 962 6 c.962A>G Q321R missense mutation Shabbeer (2006) Classic 0.034
1642 962 6 c.962A>G Q321R missense mutation Saito (2013) Classic 0.034
1643 962 6 c.962A>T Q321L missense mutation Auray-Blais (2008) 0.015
1644 963 6 c.963G>C Q321H missense mutation Lukas (2013) 0.090
1645 964 6 c.964G>C D322H missense mutation Liao (2015) suggest Fabry disease newborn Taiwan 0.160
1646 966 6 c.966C>G D322E missense mutation Adalsteinsdottir (2014) 0.153
1647 966 6 c.966C>G D322E missense mutation Lee (2010) Classic Korean 0.153
1648 973 6 c.973G>A G325S missense mutation Lukas (2013) 0.105
1649 974 6 c.974G>A G325D missense mutation Schafer (2005) 0.121
1650 974 6 c.974G>A G325D missense mutation Wu (2011) 0.121
1651 974 6 c.974dupG duplication Germain (2002)
1652 979 6 c.979C>G Q327E missense mutation Schafer (2005) 0.030
1653 979 6 c.979C>G Q327E missense mutation Lukas (2013) 0.030
1654 979 6 c.979C>A Q327K missense mutation Davies (1993) Classic 0.254
1655 979 6 c.979C>A Q327K missense mutation Lukas (2013) Classic 0.254
1656 979 6 c.979C>A Q327K missense mutation Eng (1994)_2 Classic English 0.254
1657 979 6 c.979C>A Q327K missense mutation Garman (2002) Severe 0.254
1658 979 6 c.979C>A Q327K missense mutation Germain (1999) Classic 0.254
1659 982 6 c.982G>A G328R missense mutation Ishii (1992) Classic M 34 Japanse? 0.283
1660 982 6 c.982G>A G328R missense mutation Saito (2013) Classic 0.283
1661 982 6 c.982G>A G328R missense mutation Shimotori (2008) Classic Japanese 0.283
1662 982 6 c.982G>A G328R missense mutation Okumiya (1995) Classic 0.283
1663 982 6 c.982G>A G328R missense mutation Germain (2002) Classic M 26 Arab 0.283
1664 982 6 c.982G>A G328R missense mutation Eng (1994)_2 Classic Japanese 0.283
1665 982 6 c.982G>A G328R missense mutation Ashton-Prolla (2000) Classic 0.283
1666 982 6 c.982G>A G328R missense mutation Takata (1997) Classic 0.283
1667 982 6 c.982G>A G328R missense mutation Garman (2002) Severe 0.283
1668 983 6 c.983G>C G328A missense mutation Eng (1993) Classic Scottish/Irish 0.100
1669 983 6 c.983G>C G328A missense mutation Lukas (2013) Classic 0.100
1670 983 6 c.983G>C G328A missense mutation Saito (2013) Classic 0.100
1671 983 6 c.983G>C G328A missense mutation Shin (2008) Variant 0.100
1672 983 6 c.983G>C G328A missense mutation Shabbeer (2006) Classic 0.100
1673 983 6 c.983G>C G328A missense mutation Eng (1994)_2 Classic Scottish/Irish 0.100
1674 983 6 c.983G>C G328A missense mutation Garman (2002) Severe 0.100
1675 983 6 c.983G>C G328A missense mutation Wu (2011) 0.100
1676 983 6 c.983G>A G328E missense mutation Kwan (2007) 0.148 the full paper was not found
1677 983 6 c.983G>T G328V missense mutation Shabbeer (2005) F 0.160
1678 983 6 c.983G>T G328V missense mutation Shabbeer (2006) Classic 0.160
1679 983 6 c.983G>T G328V missense mutation Saito (2013) Classic 0.160
1680 986 6 c.986delA deletion Schafer (2005)
1681 988 6 c.988C>T Q330X nonsense mutation Dobrovolny (2005)_2 F
1682 988 6 c.988C>T Q330X nonsense mutation Xiong (2015) no description about phenotype in the source paper
1683 988 6 c.988C>T Q330X nonsense mutation Lukas (2013) no description about phenotype in the source paper
1684 988 6 c.988delC deletion Blanch (1996)
1685 994 6 c.994delA deletion Germain (2002) classic Iraqi
1686 994 6 c.994dupA duplication Lukas (2013)
1687 996 6 c.996_999delACAG deletion Shabbeer (2002)
1688 997 6 c.997C>T Q333X nonsense mutation Lorenz (2003) Austria
1689 997 6 c.997C>T Q333X nonsense mutation Lukas (2013)
1690 997 6 c.997dupC duplication Shabbeer (2006)
1691 999 6 c.999+2T>C splicing Topaloglu (1999)
1692 1000 7 c.1000-2A>G splicing Sirrs (2010)
1693 1000 7 c.1000-2A>T splicing Auray-Blais (2008)
1694 1000 7 c.1000-1G>C splicing Shabbeer (2006)
1695 1011 7 c.1011_1029del19 deletion Davies (1994)
1696 1012 7 c.1012G>A E338K missense mutation Shabbeer (2005) classic M 0.148
1697 1012 7 c.1012G>A E338K missense mutation Shabbeer (2006) Classic 0.148
1698 1012 7 c.1012G>T E338X nonsense mutation Shabbeer (2005) F
1699 1012 7 c.1012G>T E338X nonsense mutation Shabbeer (2006) Classic
1700 1017 7 c.1017_1027del11 deletion Eng (1993)
1701 1018 7 c.1018T>C W340R missense mutation Davies (1996) Hetero F German 0.106
1702 1018 7 c.1018T>C W340R missense mutation Garman (2002) Severe 0.106
1703 1019 7 c.1019G>C W340S missense mutation Kobayashi (2014) Classical M - Japanese 0.032
1704 1020 7 c.1020G>A W340X nonsense mutation Eng (1993) Classic African-American
1705 1020 7 c.1020G>A W340X nonsense mutation Lukas (2013) Classic
1706 1020 7 c.1020G>A W340X nonsense mutation Eng (1994)_2 Classic African American
1707 1020 7 c.1020G>A W340X nonsense mutation Garman (2002) Severe
1708 1021 7 c.1021G>A E341K missense mutation Beyer (1999) 0.303
1709 1021 7 c.1021G>A E341K missense mutation Lukas (2013) Classic 0.303
1710 1021 7 c.1021G>A E341K missense mutation Garman (2002) Severe 0.303
1711 1021 7 c.1021delG deletion Eng (1994)
1712 1023 7 c.1023A>C E341D missense mutation Shabbeer (2002) Classic 0.162
1713 1023 7 c.1023A>C E341D missense mutation Andreotti (2011) Classic 0.162
1714 1023 7 c.1023A>C E341D missense mutation Lukas (2013) Classic 0.162
1715 1024 7 c.1024C>T R342X nonsense mutation Davies (1993) Classic Greek/English
1716 1024 7 c.1024C>T R342X nonsense mutation Park (2009) Classic
1717 1024 7 c.1024C>T R342X nonsense mutation Rigoldi (2014)
1718 1024 7 c.1024C>T R342X nonsense mutation Lee (2010) Classic Korean
1719 1024 7 c.1024C>T R342X nonsense mutation Lee (2000) Classic M 8- Korean
1720 1024 7 c.1024C>T R342X nonsense mutation Guffon (1998) Hetero F 20 French
1721 1024 7 c.1024C>T R342X nonsense mutation Guffon (2003) Hetero
1722 1024 7 c.1024C>T R342X nonsense mutation Shabbeer (2006) Classic
1723 1024 7 c.1024C>T R342X nonsense mutation Eng (1994)_2 Classic Greek/English
1724 1024 7 c.1024C>T R342X nonsense mutation Glass (2004) Classic M
1725 1024 7 c.1024C>T R342X nonsense mutation Blaydon (2001) Classic
1726 1024 7 c.1024C>T R342X nonsense mutation Garman (2002) Severe
1727 1024 7 c.1024C>T R342X nonsense mutation Lukas (2013) Classic
1728 1025 7 c.1025G>A R342Q missense mutation Ploos van Amstel (1994) classic Dutch 0.059
1729 1025 7 c.1025G>A R342Q missense mutation Germain (2001) 0.059
1730 1025 7 c.1025G>A R342Q missense mutation Lukas (2013) Classic 0.059
1731 1025 7 c.1025G>A R342Q missense mutation Germain (2002) Classic M 33 French 0.059
1732 1025 7 c.1025G>A R342Q missense mutation Dobrovolny (2005) Classic 0.059
1733 1025 7 c.1025G>A R342Q missense mutation Eng (1994)_2 Classic Dutch 0.059
1734 1025 7 c.1025G>A R342Q missense mutation Davies (1996) F British 0.059
1735 1025 7 c.1025G>A R342Q missense mutation Auray-Blais (2015) Classic M Children 0.059
1736 1025 7 c.1025G>A R342Q missense mutation Garman (2002) Severe 0.059
1737 1025 7 c.1025G>A R342Q missense mutation Pasqualim (2014) F 0.059
1738 1025 7 c.1025G>A R342Q missense mutation Pereira (2014) 0.059
1739 1025 7 c.1025G>A R342Q missense mutation Wu (2011) 0.059
1740 1025 7 c.1025G>A R342Q missense mutation Bouwman (2013) 0.059
1741 1025 7 c.1025G>A R342Q missense mutation Erdos (2008) 0.059
1742 1025 7 c.1025G>A R342Q missense mutation Vedder (2007) Dutch 0.059
1743 1025 7 c.1025G>T R342L missense mutation Lukas (2013) 0.052
1744 1025 7 c.1025G>C R342P missense mutation Lukas (2013) 0.089
1745 1025 7 c.1025delG deletion Schafer (2005)
1746 1028 7 c.1028C>T P343L missense mutation Mills (2005) 0.008
1747 1031 7 c.1031T>C L344P missense mutation Schafer (2005) 0.066
1748 1031 7 c.1031T>C L344P missense mutation Lukas (2013) Classic 0.066
1749 1033 7 c.1033T>C S345P missense mutation Schafer (2005) 0.038
1750 1033 7 c.1033T>C S345P missense mutation Lukas (2013) Classic 0.038
1751 1033 7 c.1033_1034delTC deletion Germain (1996)
1752 1034 7 c.1034C>A S345X nonsense mutation Lukas (2013)
1753 1034 7 c.1034C>A S345X nonsense mutation Tai (2012)
1754 1034 7 c.1034C>A S345X nonsense mutation Altarescu (2001)
1755 1034 7 c.1034C>A S345X nonsense mutation Lee (2014) Taiwan
1756 1034 7 c.1034C>A S345X nonsense mutation Branton (2002)
1757 1037 7 c.1037delG deletion Rodriguez-Mari (2003)
1758 1040 7 c.1040dupT duplication Ploos van Amstel (1994)
1759 1041 7 c.1041dupA duplication Germain (2002)
1760 1042 7 c.1042G>C A348P missense mutation Shabbeer (2006) Classic 0.033
1761 1042 7 c.1042dupG duplication Shabbeer (2002)
1762 1043 7 c.1043_1044insG insertion Shabbeer (2002) classic
1763 1045 7 c.1045T>A W349R missense mutation Meng (2010) 0.106 the source paper was not written in English.
1764 1045 7 c.1045T>A W349R missense mutation Lukas (2013) 0.106
1765 1045 7 c.1045T>A W349R missense mutation Lee (2010) Classic Korean 0.106
1766 1046 7 c.1046G>A W349X nonsense mutation Ashley (2001) Classic M
1767 1046 7 c.1046G>A W349X nonsense mutation Lukas (2013)
1768 1046 7 c.1046G>A W349X nonsense mutation Garman (2002) Severe
1769 1048 7 c.1048G>C A350P missense mutation Schafer (2005) 0.055
1770 1049 7 c.1049delC deletion Sirrs (2010)
1771 1055 7 c.1055C>A A352D missense mutation Morrone (2003) Classic Italian 0.061
1772 1057 7 c.1057_1058delAT deletion Eng (1997)
1773 1061 7 c.1061T>A I354K missense mutation Mignani (2008) 0.119
1774 1065 7 c.1065C>A N355K missense mutation Germain (2002) Classic M 16 French 0.134
1775 1066 7 c.1066C>T R356W missense mutation Bernstein (1989) classic Scottish 0.079
1776 1066 7 c.1066C>T R356W missense mutation Ishii (2007) Classic 0.079
1777 1066 7 c.1066C>T R356W missense mutation Lin (2009) Classic M 0.079
1778 1066 7 c.1066C>T R356W missense mutation Shin (2007) 0.079
1779 1066 7 c.1066C>T R356W missense mutation Shin (2008) Classic 0.079
1780 1066 7 c.1066C>T R356W missense mutation Eng (1994)_2 Classic Scottish 0.079
1781 1066 7 c.1066C>T R356W missense mutation Altarescu (2001) 0.079
1782 1066 7 c.1066C>T R356W missense mutation Glass (2004) Classic M 0.079
1783 1066 7 c.1066C>T R356W missense mutation Garman (2002) Severe 0.079
1784 1066 7 c.1066C>T R356W missense mutation Lee (2014) Classic Taiwan 0.079
1785 1066 7 c.1066C>T R356W missense mutation Pasqualim (2014) F 0.079
1786 1066 7 c.1066C>T R356W missense mutation Pereira (2014) 0.079
1787 1066 7 c.1066C>T R356W missense mutation Siekierska (2012) 0.079
1788 1066 7 c.1066C>T R356W missense mutation Lukas (2013) Classic 0.079
1789 1066 7 c.1066C>T R356W missense mutation Wu (2011) 0.079
1790 1066 7 c.1066C>T R356W missense mutation Branton (2002) 0.079
1791 1067 7 c.1067G>A R356Q missense mutation Hwu (2009) Taiwan 0.050
1792 1067 7 c.1067G>A R356Q missense mutation Lukas (2013) 0.050
1793 1067 7 c.1067G>A R356Q missense mutation Lee (2014) Taiwan 0.050
1794 1069 7 c.1069C>T Q357X nonsense mutation Utsumi (1997) Classic M 59 Japanese
1795 1069 7 c.1069C>T Q357X nonsense mutation Lukas (2013)
1796 1069 7 c.1069C>T Q357X nonsense mutation Altarescu (2001)
1797 1069 7 c.1069C>T Q357X nonsense mutation Utsumi (2009) Classic M 35 Japanese
1798 1069 7 c.1069C>T Q357X nonsense mutation Branton (2002)
1799 1069 7 c.1069 Q357A missense mutation Branton (2002) 0.037
1800 1072 7 c.1072G>A E358K missense mutation Miyazaki (1998) classic M 10-19 Japanese 0.293
1801 1072 7 c.1072G>A E358K missense mutation Saito (2013) Classic 0.293
1802 1072 7 c.1072G>A E358K missense mutation Wu (2011) 0.293
1803 1072 7 c.1072G>A E358K missense mutation Germain (2002) Classic M 39 French 0.293
1804 1072 7 c.1072G>A E358K missense mutation Garman (2002) Severe 0.293
1805 1072 7 c.1072G>A E358K missense mutation Tsuboi (2012) 0.293
1806 1072 7 c.1072G>T E358X nonsense mutation Lukas (2013)
1807 1072 7 c.1072_1074delGAG deletion Blanch (1996)
1808 1073 7 c.1073A>C E358A missense mutation Shabbeer (2006) Classic 0.091
1809 1073 7 c.1073A>C E358A missense mutation Saito (2013) Classic 0.091
1810 1073 7 c.1073A>C E358A missense mutation Wu (2011) 0.091
1811 1073 7 c.1073A>C E358A missense mutation Shabbeer (2005) F 0.091
1812 1073 7 c.1073A>G E358G missense mutation Germain (2002) Classic M 41 West Indian 0.083
1813 1073 7 c.1073A>G E358G missense mutation Saito (2013) Classic 0.083
1814 1074 7 c.1074_1075delGA deletion Ploos van Amstel (1994)
1815 1076 7 c.1076T>C I359T missense mutation Kakita (2010) 0.008
1816 1076 7 c.1076T>C I359T missense mutation Mechtler (2012) Unknown M 0.008
1817 1077 7 c.1077delT deletion Eng (1997)
1818 1078 7 c.1078G>T G360C missense mutation Lin (2007) 0.024
1819 1078 7 c.1078G>T G360C missense mutation Hwu (2009) Taiwan 0.024
1820 1078 7 c.1078G>T G360C missense mutation Liao (2015) suggest Fabry disease newborn Taiwan 0.024
1821 1078 7 c.1078G>T G360C missense mutation Lin (2009) F 0.024
1822 1078 7 c.1078G>T G360C missense mutation Lin (2009) Unknown M 0.024
1823 1078 7 c.1078G>T G360C missense mutation Lee (2014) Taiwan 0.024
1824 1078 7 c.1078G>T G360C missense mutation Lukas (2013) 0.024
1825 1078 7 c.1078G>T G360C missense mutation Liao (2014) Classic newborn Taiwan 0.024
1826 1078 7 c.1078G>A G360S missense mutation Dobrovolny (2005) Classical Czech and Slovak 0.025
1827 1079 7 c.1079G>A G360D missense mutation Mignani (2008) 0.084
1828 1081 7 c.1081G>C G361R missense mutation Davies (1993) Classic English 0.017
1829 1081 7 c.1081G>C G361R missense mutation Garman (2002) Severe 0.017
1830 1081 7 c.1081G>C G361R missense mutation Lukas (2013) Classic 0.017
1831 1081 7 c.1081G>C G361R missense mutation Eng (1994)_2 Classic English 0.017
1832 1081 7 c.1081G>T G361X nonsense mutation Lee (2014) Classic Taiwan
1833 1081 7 c.1081_1100del20 deletion Germain (1996)
1834 1082 7 c.1082G>C G361A missense mutation Sirrs (2010) 0.011
1835 1084 7 c.1084C>A P362T missense mutation Liao (2014) newborn Taiwan 0.006
1836 1084 7 c.1084C>A P362T missense mutation Lee (2014) Taiwan 0.006
1837 1085 7 c.1085C>T P362L missense mutation Shabbeer (2002) Classic 0.022
1838 1086 7 c.1086_1098del13 deletion Kwan (2007)
1839 1087 7 c.1087C>T R363C missense mutation Shabbeer (2002) Classic 0.252
1840 1087 7 c.1087C>T R363C missense mutation Wu (2011) 0.252
1841 1088 7 c.1088G>A R363H missense mutation Cooper (2000) 0.085 the full paper was not found
1842 1088 7 c.1088G>A R363H missense mutation Lukas (2013) Classic/Variant 0.085
1843 1088 7 c.1088G>A R363H missense mutation Wu (2011) 0.085
1844 1088 7 c.1088G>A R363H missense mutation Shabbeer (2002) Classic 0.085
1845 1088 7 c.1088G>A R363H missense mutation Auray-Blais (2015) Atypical phenotype M Children 0.085
1846 1088 7 c.1088G>A R363H missense mutation Blaydon (2001) 0.085
1847 1088 7 c.1088G>A R363H missense mutation Garman (2002) Severe 0.085
1848 1088 7 c.1088delG deletion Davies (1996) classic British
1849 1088 7 c.1088G>A R363H missense mutation Serebrinsky (2015) 0.085
1850 1093 7 c.1093dupT duplication Eng (1997)
1851 1095 7 c.1095T>A Y365X nonsense mutation Miyamura (1996) Classic Japanese
1852 1095 7 c.1095T>A Y365X nonsense mutation Morrone (2003) Classic Italian
1853 1095 7 c.1095T>A Y365X nonsense mutation Garman (2002) Severe
1854 1095 7 c.1095T>A Y365X nonsense mutation Lee (2014) Classic Taiwan
1855 1095 7 c.1095T>A Y365X nonsense mutation Sadick (2007)
1856 1095 7 c.1095delT deletion Batista (2011)
1857 1096 7 c.1096_1100delACCAT deletion Shabbeer (2005)
1858 1102 7 c.1102G>A A368T missense mutation Lukas (2013) 0.012
1859 1102 7 c.1102G>A A368T missense mutation Pereira (2014) 0.012
1860 1102 7 c.1102delGinsTTATAC indel Rodriguez-Mari (2003) classic Spanish
1861 1115 7 c.1115T>G L372R missense mutation Dobrovolny (2008) 0.151 the full paper was not found
1862 1115 7 c.1115T>G L372R missense mutation Lukas (2013) 0.151
1863 1115 7 c.1115T>A L372Q missense mutation Utsumi (2009) Classic M 41 Japanese 0.084
1864 1115 7 c.1115T>C L372P missense mutation Ebrahim (2012) 0.278
1865 1115 7 c.1115T>C L372P missense mutation Lukas (2013) 0.278
1866 1117 7 c.1117G>C G373R missense mutation Kwan (2007) 0.144 the full paper was not found
1867 1117 7 c.1117G>A G373S missense mutation Okumiya (1995) Classic Japanese 0.004
1868 1117 7 c.1117G>A G373S missense mutation Andreotti (2011) 0.004
1869 1117 7 c.1117G>A G373S missense mutation Saito (2013) Classic 0.004
1870 1117 7 c.1117G>A G373S missense mutation Ishii (2007) Classic 0.004
1871 1117 7 c.1117G>A G373S missense mutation Takata (1997) Classic 0.004
1872 1117 7 c.1117G>A G373S missense mutation Auray-Blais (2015) Classic M Children 0.004
1873 1117 7 c.1117G>A G373S missense mutation Garman (2002) Severe 0.004
1874 1118 7 c.1118G>A G373D missense mutation Germain (2001)_2 Classic French 0.116
1875 1118 7 c.1118G>A G373D missense mutation Andreotti (2011) 0.116
1876 1118 7 c.1118G>A G373D missense mutation Lukas (2013) 0.116
1877 1118 7 c.1118G>A G373D missense mutation Saito (2013) Classic 0.116
1878 1118 7 c.1118G>A G373D missense mutation Shabbeer (2002) Classic 0.116
1879 1118 7 c.1118G>A G373D missense mutation Garman (2002) Severe 0.116
1880 1121 7 c.1121_1123delAAG deletion Shabbeer (2006)
1881 1130 7 c.1130C>A A377D missense mutation Blaydon (2001) Classic European 0.101
1882 1130 7 c.1130C>A A377D missense mutation Garman (2002) Severe 0.101
1883 1132 7 c.1132T>C C378R missense mutation Garman (2002) Severe 0.202
1884 1132 7 c.1132T>C C378R missense mutation Lukas (2013) 0.202
1885 1133 7 c.1133G>A C378Y missense mutation Topaloglu (1999) Hetero 0.218
1886 1133 7 c.1133G>A C378Y missense mutation Morrone (2003) Classic Italian 0.218
1887 1133 7 c.1133G>A C378Y missense mutation Garman (2002) Severe 0.218
1888 1139 7 c.1139delC deletion Ashton-Prolla (2000)
1889 1145 7 c.1145G>A C382Y missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.203
1890 1145 7 c.1145G>A C382Y missense mutation Saito (2013) Classic 0.203
1891 1145 7 c.1145_1149delGCTTC deletion Kwan (2007)
1892 1146 7 c.1146C>G C382W missense mutation Galanos (2002) hetero F Australian 0.205
1893 1146 7 c.1146C>G C382W missense mutation Saito (2013) Hetero 0.205
1894 1151 7 c.1151T>A I384N missense mutation Shabbeer (2002) Classic 0.008
1895 1151 7 c.1151T>A I384N missense mutation Lukas (2013) Classic 0.008
1896 1151 7 c.1151_1152delTCinsAT indel Schafer (2005)
1897 1153 7 c.1153A>G T385A missense mutation Lukas (2013) 0.016
1898 1153 7 c.1153A>C T385P missense mutation Shabbeer (2002) Classic 0.051
1899 1156 7 c.1156C>T Q386X nonsense mutation Eng (1997) Classic
1900 1156 7 c.1156C>T Q386X nonsense mutation Garman (2002) Severe
1901 1156 7 c.1156_1157delCA deletion Blaydon (2001)
1902 1157 7 c.1157A>C Q386P missense mutation Shabbeer (2006) Classic 0.150
1903 1157 7 c.1157A>C Q386P missense mutation Lukas (2013) Classic 0.150
1904 1166 7 c.1166C>G P389R missense mutation Kwan (2007) 0.275 the full paper was not found
1905 1166 7 c.1166C>T P389L missense mutation Lukas (2013) 0.005
1906 1167 7 c.1167dupT duplication Schafer (2005)
1907 1168 7 c.1168G>A V390M missense mutation Lukas (2013) 0.003
1908 1172 7 c.1172A>C K391T missense mutation Lin (2010) 0.113
1909 1172 7 c.1172A>C K391T missense mutation Lin (2009) Unknown M 0.113
1910 1172 7 c.1172A>C K391T missense mutation Lee (2014) Taiwan 0.113
1911 1172 7 c.1172A>C K391T missense mutation Liao (2014) Classic newborn Taiwan 0.113
1912 1176 7 c.1176_1179delGAAG deletion Topaloglu (1999)
1913 1177 7 c.1177_1178delAA deletion Eng (1994)_2
1914 1184 7 c.1184G>C G395A missense mutation Bono (2011) 0.010
1915 1184 7 c.1184G>C G395A missense mutation Lukas (2013) 0.010
1916 1186 7 c.1186 Q396X nonsense mutation Shabbeer (2002) Classic Q386X? F396
1917 1186 7 c.1186 F396X nonsense mutation Altarescu (2001)
1918 1186 7 c.1186 F396X nonsense mutation Branton (2002)
1919 1187 7 c.1187T>A F396Y missense mutation Garman (2002) Severe 0.002
1920 1187 7 c.1187T>A F396Y missense mutation Shin (2001) 0.002
1921 1187 7 c.1187dupT duplication Ashton-Prolla (2000)
1922 1188 7 c.1188delC deletion Topaloglu (1999) classic
1923 1191 7 c.1191T>G Y397X nonsense mutation Lukas (2013)
1924 1192 7 c.1192G>A E398K missense mutation Shabbeer (2002) Classic 0.183
1925 1192 7 c.1192G>T E398X nonsense mutation Eng (1993) Classic Hispanic
1926 1192 7 c.1192G>T E398X nonsense mutation Eng (1994)_2 Classic Hispanic
1927 1193 7 c.1193A>C E398A missense mutation Lukas (2013) 0.034
1928 1194 7 c.1194delA deletion Tai (2012)
1929 1196 7 c.1196G>A W399X nonsense mutation Eng (1997) Classic
1930 1196 7 c.1196G>A W399X nonsense mutation Lukas (2013) Classic
1931 1196 7 c.1196G>A W399X nonsense mutation Shimotori (2008) Classic Japanese
1932 1196 7 c.1196G>A W399X nonsense mutation Altarescu (2001)
1933 1196 7 c.1196G>A W399X nonsense mutation Garman (2002) Severe
1934 1196 7 c.1196G>A W399X nonsense mutation Rosenberg (1999)
1935 1201 7 c.1201dupT duplication Schafer (2005)
1936 1202 7 c.1202C>G S401X nonsense mutation Shabbeer (2002) Classic
1937 1207 7 c.1207 L403X nonsense mutation Altarescu (2001)
1938 1207 7 c.1207 L403X nonsense mutation Branton (2002)
1939 1208 7 c.1208T>C L403S missense mutation Shimotori (2008) Classic Japanese 0.014
1940 1208 7 c.1208delT deletion Germain (2002)
1941 1212 7 c.1212_1214delAAG deletion Eng (1993)
1942 1213 7 c.1213A>C S405R missense mutation Lukas (2013) 0.124
1943 1220 7 c.1220T>A I407K missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.169
1944 1225 7 c.1225C>G P409A missense mutation Blaydon (2001) Classic European 0.049
1945 1225 7 c.1225C>G P409A missense mutation Saito (2013) Classic 0.049
1946 1225 7 c.1225C>G P409A missense mutation Wu (2011) 0.049
1947 1225 7 c.1225C>G P409A missense mutation Germain (2002) Classic M 29 British 0.049
1948 1225 7 c.1225C>G P409A missense mutation Shabbeer (2002) Classic 0.049
1949 1225 7 c.1225C>G P409A missense mutation Garman (2002) Severe 0.049
1950 1225 7 c.1225C>G P409A missense mutation Laaksonen (2008) 0.049
1951 1225 7 c.1225C>T P409S missense mutation Germain (2002) Classic M 38 British 0.024
1952 1225 7 c.1225C>T P409S missense mutation Saito (2013) Classic 0.024
1953 1225 7 c.1225C>T P409S missense mutation Tahir (2007) 0.024
1954 1225 7 c.1225C>A P409T missense mutation Blaydon (2001) Hetero European 0.078
1955 1225 7 c.1225C>A P409T missense mutation Saito (2013) Hetero 0.078
1956 1225 7 c.1225C>A P409T missense mutation Garman (2002) Severe 0.078
1957 1228 7 c.1228A>G T410A missense mutation Yang (2003) Mild M Chinese 0.005
1958 1228 7 c.1228A>G T410A missense mutation Andreotti (2011) Variant 0.005
1959 1228 7 c.1228A>G T410A missense mutation Saito (2013) Later-onset 0.005
1960 1228 7 c.1228A>G T410A missense mutation Lee (2014) Classic Taiwan 0.005
1961 1228 7 c.1228A>C T410P missense mutation Shimotori (2008) Classic Japanese 0.089
1962 1228 7 c.1228A>C T410P missense mutation Saito (2013) Classic 0.089
1963 1229 7 c.1229C>T T410I missense mutation Ebrahim (2012) 0.032
1964 1229 7 c.1229C>T T410I missense mutation Lukas (2013) 0.032
1965 1229 7 c.1229C>A T410K missense mutation Ashley (2001) Classic 0.085
1966 1229 7 c.1229C>A T410K missense mutation Garman (2002) Severe 0.085
1967 1232 7 c.1232G>A G411D missense mutation Guffon (2003) Hetero 0.068 with D313Y
1968 1232 7 c.1232G>A G411D missense mutation Froissart (2003) 0.068 no description about phenotype in the source paper
1969 1232 7 c.1232G>A G411D missense mutation Yasuda (2003) Classic M 0.068 with D313Y
1970 1232 7 c.1232G>A G411Y missense mutation Guffon (1998) Classic M 10 French 0.175 with D313Y
1971 1232 7 c.1232G>A G411Y missense mutation Garman (2002) Severe 0.175
1972 1235 7 c.1235_1236delCT deletion Blaydon (2001)
1973 1241 7 c.1241T>C L414S missense mutation Rodriguez-Mari (2003) Classic M Spanish 0.003
1974 1241 7 c.1241T>C L414S missense mutation Shabbeer (2006) Classic 0.003
1975 1241 7 c.1241T>C L414S missense mutation Shabbeer (2005) M 0.003
1976 1243 7 c.1243C>T L415F missense mutation Lukas (2013) 0.009
1977 1243 7 c.1243C>T L415F missense mutation Rolfs (2013) 0.009
1978 1244 7 c.1244T>C L415P missense mutation Serebrinsky (2006) 0.039 the full paper was not found
1979 1244 7 c.1244T>C L415P missense mutation Andreotti (2011) 0.039
1980 1244 7 c.1244T>C L415P missense mutation Lukas (2013) 0.039
1981 1244 7 c.1244T>C L415P missense mutation Shin (2008) Classic 0.039
1982 1244 7 c.1244T>C L415P missense mutation Rozenfeld (2006) Classic Argentina 0.039
1983 1244 7 c.1244T>C L415P missense mutation Wu (2011) 0.039
1984 1246 7 c.1246C>T Q416X nonsense mutation Bouwman (2013)
1985 1246 7 c.1246C>T Q416X nonsense mutation Lukas (2013)
1986 1247 7 c.1247A>C Q416P missense mutation Lukas (2013) 0.048
1987 1254 7 c.1254A>G E418G missense mutation Lukas (2013) 0.041
1988 1254 7 c.1254A>G E418G missense mutation Rolfs (2013) 0.041
1989 1254 7 c.1254A>G E418G missense mutation Lukas (2013) 0.041