Fabry mutants list


keyword:

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