MPS6 mutants list


keyword:

id cid patient_id homo exon nucleotide_change amino_acid_change type source rmsd
id cid patient_id homo exon nucleotide_change amino_acid_change type source rmsd
1 427 2_1 f 2 c.427delG p.V143Sfs*41 gross_deletion Arlt (1994)
2 1600 2_1 f >8 c.1600T>G p.*534Q missense Arlt (1994)
3 903 4_1 t 5 c.903C>G p.N301K missense Brands (2013) 0.148
4 1151 4_1 t 6 c.1151G>A p.S384N missense Brands (2013) 0.023
5 1142 4_2 t 5 c.1142+2T>C splicing Brands (2013)
6 995 4_3 t 5 c.995T>G p.V332G missense Brands (2013) 0.005
7 971 4_4 t 5 c.971G>T p.G324V missense Brands (2013) 0.101
8 454 4_5 t 2 c.454C>T p.R152W missense Brands (2013) 0.053
9 454 4_6 t 2 c.454C>T p.R152W missense Brands (2013) 0.053
10 454 4_7 t 2 c.454C>T p.R152W missense Brands (2013) 0.053
11 629 4_8 f 3 c.629A>G p.Y210C missense Brands (2013) 0.022
12 937 4_8 f 5 c.937C>G p.P313A missense Brands (2013) 0.000
13 629 4_9 f 3 c.629A>G p.Y210C missense Brands (2013) 0.022
14 979 4_9 f 5 c.979C>T p.R327* nonsense Brands (2013)
15 629 4_10 f 3 c.629A>G p.Y210C missense Brands (2013) 0.022
16 979 4_10 f 5 c.979C>T p.R327* nonsense Brands (2013)
17 629 4_11 f 3 c.629A>G p.Y210C missense Brands (2013) 0.022
18 979 4_11 f 5 c.979C>T p.R327* nonsense Brands (2013)
19 710 4_12 f 4 c.710C>A p.A237D missense Brands (2013) 0.045
20 753 7_1 t 4 c.753C>G p.Y251* nonsense Cobos (2015)
21 275 7_2 f 1 c.275C>A p.T92K missense Cobos (2015) 0.125
22 293 7_2 f 1 c.293T>C p.L98P missense Cobos (2015) 0.122
23 691 7_3 t 4 c.691-1G>A splicing Cobos (2015)
24 753 7_4 t 4 c.753C>G p.Y251* nonsense Cobos (2015)
25 753 7_5 t 4 c.753C>G p.Y251* nonsense Cobos (2015)
26 167 7_6 t 1 c.167G>A p.G56D missense Cobos (2015) 0.126
27 753 7_7 f 4 c.753C>G p.Y251* nonsense Cobos (2015)
28 923 7_7 f 5 c.923G>A p.G308E missense Cobos (2015) 0.189
29 962 7_8 t 5 c.962T>C p.L321P missense Cobos (2015) 0.029
30 1127 7_9 t 5 c.1127T>A p.V376E missense Cobos (2015) 0.182
31 962 10_1 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
32 908 10_2 t 5 c.908G>A p.G303E missense Ferla (2015) 0.199
33 962 10_3 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
34 971 10_4 t 5 c.971G>T p.G324V missense Ferla (2015) 0.101
35 962 10_5 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
36 962 10_6 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
37 883 10_7 t 4 c.883_884dup p.I269Sfs*43 small_insertion Ferla (2015)
38 903 10_8 t 5 c.903C>G p.N301K missense Ferla (2015) 0.148
39 1036 10_9 f 5 c.1036del p.E346Sfs*11 small_deletion Ferla (2015)
40 1178 10_9 f 6 c.1178A>G p.H393R missense Ferla (2015) 0.024
41 962 10_10 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
42 571 10_11 t 3 c.571C>T p.R191* nonsense Ferla (2015)
43 427 10_12 t 2 c.427delG p.V143Sfs*41 gross_deletion Ferla (2015)
44 995 10_13 t 5 c.995T>G p.V332G missense Ferla (2015) 0.005
45 962 10_14 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
46 962 10_15 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
47 962 10_16 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
48 571 10_17 t 3 c.571C>T p.R191* nonsense Ferla (2015)
49 571 10_18 t 3 c.571C>T p.R191* nonsense Ferla (2015)
50 962 10_19 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
51 979 10_20 t 5 c.979C>T p.R327* nonsense Ferla (2015)
52 629 10_21 f 3 c.629A>G p.Y210C missense Ferla (2015) 0.022
53 979 10_21 f 5 c.979C>T p.R327* nonsense Ferla (2015)
54 943 10_22 f 5 c.943C>T p.R315* nonsense Ferla (2015)
55 1475 10_22 f 8 c.1475delC p.P492Lfs*80 small_deletion Ferla (2015)
56 943 10_23 f 5 c.943C>T p.R315* nonsense Ferla (2015)
57 899 10_23 f 5 c.899_1142del p.D300Vfs*193 deletion Ferla (2015)
58 962 10_24 t 5 c.962T>C p.L321P missense Ferla (2015) 0.029
59 629 10_25 f 3 c.629A>G p.Y210C missense Ferla (2015) 0.022
60 979 10_25 f 5 c.979C>T p.R327* nonsense Ferla (2015)
61 629 10_26 f 3 c.629A>G p.Y210C missense Ferla (2015) 0.022
62 979 10_26 f 5 c.979C>T p.R327* nonsense Ferla (2015)
63 1142 10_27 t 5 c.1142+2T>C splicing Ferla (2015)
64 454 10_28 t 2 c.454C>T p.R152W missense Ferla (2015) 0.053
65 454 10_29 t 2 c.454C>T p.R152W missense Ferla (2015) 0.053
66 629 10_30 f 3 c.629A>G p.Y210C missense Ferla (2015) 0.022
67 937 10_30 f 5 c.937C>G p.P313A missense Ferla (2015) 0.000
68 1213 10_31 f 6 c.1213+6T>C splicing Ferla (2015)
69 725 10_31 f 4 c.725A>C p.H242P missense Ferla (2015) 0.088
70 1168 10_32 t 6 c.1168G>A p.E390K missense Ferla (2015) 1.667
71 1036 10_33 t 5 c.1036del p.E346Sfs*11 small_deletion Ferla (2015)
72 1213 10_34 t 6 c.1213+6T>C splicing Ferla (2015)
73 454 10_35 t 2 c.454C>T p.R152W missense Ferla (2015) 0.053
74 1168 10_36 t 6 c.1168G>A p.E390K missense Ferla (2015) 1.667
75 349 20_1 t 2 c.349T>C p.C117R missense Jin (1992) 0.247
76 707 20_2 f 4 c.707T>C p.L236P missense Jin (1992) 0.023
77 1214 20_2 f 7 c.1214G>A p.C405Y missense Jin (1992) 0.118
78 356 27_40 f 2 c.356_358del p.P119_S120*insR small_deletion Karageorgos (2004)
79 944 27_40 f 5 c.944G>A p.R315Q missense Karageorgos (2004) 0.047
80 1191 27_40 f 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
81 289 27_41 f 1 c.289C>T p.Q97* nonsense Karageorgos (2004)
82 1450 27_41 f 8 c.1450A>G p.R484G missense Karageorgos (2004) 0.053
83 1191 27_41 f 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
84 1151 27_42 f 6 c.1151G>A p.S384N missense Karageorgos (2004) 0.023
85 936 27_42 f 5 c.936G>T p.W312C missense Karageorgos (2004) 0.001
86 979 27_42 f 5 c.979C>T p.R327* nonsense Karageorgos (2004)
87 1072 27_42 f 5 c.1072G>A p.V358M missense Karageorgos (2004) 0.001
88 1191 27_42 t 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
89 427 27_43 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2004)
90 707 27_43 f 4 c.707T>C p.L236P missense Karageorgos (2004) 0.023
91 1126 27_43 t 5 c.1126G>A p.V376M missense Karageorgos (2004) 0.030
92 1191 27_43 t 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
93 629 27_44 f 3 c.629A>G p.Y210C missense Karageorgos (2004) 0.022
94 1126 27_44 f 5 c.1126G>A p.V376M missense Karageorgos (2004) 0.030
95 1191 27_44 t 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
96 1336 27_45 t 7 c.1336+2T>G splicing Karageorgos (2004)
97 691 27_45 f IVS c.691-22T>C splicing Karageorgos (2004)
98 1191 27_45 f 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
99 962 27_50 t 5 c.962T>C p.L321P missense Karageorgos (2004) 0.029
100 1072 27_50 t 5 c.1072G>A p.V358M missense Karageorgos (2004) 0.001
101 1191 27_50 t 6 c.1191A>G p.P397P synonimous Karageorgos (2004)
102 98 28_51 f 1 c.98C>T p.A33V missense Karageorgos (2007)
103 171 28_51 f 1 c.171G>C p.W57C missense Karageorgos (2007) 0.001
104 797 28_51 f 4 c.797A>C p.Y266S missense Karageorgos (2007) 0.035
105 1072 28_51 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
106 1191 28_51 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
107 160 28_82 t 1 c.160G>A p.D54N missense Karageorgos (2007) 0.130
108 1072 28_82 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
109 899 28_82 t IVS c.899-27A>C splicing Karageorgos (2007)
110 247 28_65 f 1 c.247G>T p.D83Y missense Karageorgos (2007) 0.092
111 1213 28_65 f 6 c.1213+5G>A splicing Karageorgos (2007)
112 1191 28_65 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
113 275 28_73 f 1 c.275C>A p.T92K missense Karageorgos (2007) 0.125
114 629 28_73 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
115 1191 28_73 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
116 288 28_39 f 1 c.288C>G p.S96R missense Karageorgos (2007) 0.140
117 691 28_39 f 4 c.691-1G>A splicing Karageorgos (2007)
118 317 28_39 f 2 c.317G>A p.R106H missense Karageorgos (2007) 0.026
119 1191 28_39 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
120 389 28_2 f 2 c.389C>T p.P130L missense Karageorgos (2007) 0.114
121 305 28_2 f 1 c.305G>A p.R102H missense Karageorgos (2007) 0.073
122 972 28_2 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)
123 1072 28_2 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
124 1126 28_2 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
125 1191 28_2 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
126 899 28_2 f IVS c.899-27A>C splicing Karageorgos (2007)
127 430 28_98 t 2 c.430G>A p.G144R missense Karageorgos (2007) 0.251
128 1191 28_98 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
129 512 28_32 f 3 c.512G>A p.G171D missense Karageorgos (2007) 0.080
130 478 28_32 f 2 c.478C>T p.R160* nonsense Karageorgos (2007)
131 691 28_32 f IVS c.691-22T>C splicing Karageorgos (2007)
132 899 28_32 f IVS c.899-27A>C splicing Karageorgos (2007)
133 1072 28_32 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
134 1191 28_32 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
135 533 28_103 f 3 c.533A>T p.H178L missense Karageorgos (2007) 0.114
136 972 28_103 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)
137 1072 28_103 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
138 1191 28_103 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
139 899 28_103 f IVS c.899-27A>C splicing Karageorgos (2007)
140 667 28_68 t 3 c.667A>G p.I223V missense Karageorgos (2007) 0.000
141 972 28_68 t 5 c.972A>G p.G324G synonimous Karageorgos (2007)
142 1191 28_68 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
143 803 28_71 f 4 c.803G>T p.G268V missense Karageorgos (2007) 0.073
144 1151 28_71 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
145 1072 28_71 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
146 899 28_71 f IVS c.899-27A>C splicing Karageorgos (2007)
147 1191 28_71 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
148 887 28_58 t 4 c.887T>A p.I296N missense Karageorgos (2007) 0.011
149 691 28_58 t IVS c.691-22T>C splicing Karageorgos (2007)
150 900 28_22 f 5 c.900T>A p.D300E missense Karageorgos (2007) 0.049
151 629 28_22 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
152 1072 28_22 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
153 899 28_22 f IVS c.899-27A>C splicing Karageorgos (2007)
154 1191 28_22 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
155 937 28_54 f 5 c.937C>T p.P313S missense Karageorgos (2007) 0.002
156 971 28_54 f 5 c.971G>T p.G324V missense Karageorgos (2007) 0.101
157 1191 28_54 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
158 971 28_76 f 5 c.971G>T p.G324V missense Karageorgos (2007) 0.101
159 1126 28_76 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
160 1191 28_76 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
161 899 28_76 f IVS c.899-27A>C splicing Karageorgos (2007)
162 971 28_77 f 5 c.971G>T p.G324V missense Karageorgos (2007) 0.101
163 1126 28_77 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
164 1191 28_77 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
165 899 28_77 f IVS c.899-27A>C splicing Karageorgos (2007)
166 1028 28_20 f 5 c.1028A>T p.K343M missense Karageorgos (2007) 0.034
167 1032 28_20 f 5 c.1032C>G p.N344K missense Karageorgos (2007) 0.089
168 427 28_20 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
169 1072 28_20 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
170 1126 28_20 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
171 972 28_20 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)
172 1191 28_20 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
173 1301 28_49 f 7 c.1301G>T p.R434I missense Karageorgos (2007) 0.040
174 1450 28_49 f 8 c.1450A>G p.R484G missense Karageorgos (2007) 0.053
175 1191 28_49 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
176 1315 28_70 f 7 c.1315A>G p.K439E missense Karageorgos (2007) 0.111
177 1130 28_70 f 5 c.1130G>A p.W377* nonsense Karageorgos (2007)
178 1072 28_70 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
179 899 28_70 f IVS c.899-27A>C splicing Karageorgos (2007)
180 1191 28_70 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
181 1325 28_48 f 7 c.1325C>T p.T442M missense Karageorgos (2007) 0.001
182 1178 28_48 f 6 c.1178A>C p.H393P missense Karageorgos (2007) 0.043
183 691 28_48 f IVS c.691-22T>C splicing Karageorgos (2007)
184 1191 28_48 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
185 1325 28_21 f 7 c.1325C>G p.T442R missense Karageorgos (2007) 0.151
186 427 28_21 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
187 1072 28_21 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
188 1126 28_21 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
189 899 28_21 f IVS c.899-27A>C splicing Karageorgos (2007)
190 1191 28_21 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
191 1340 28_75 f 8 c.1340G>T p.C447F missense Karageorgos (2007) 0.192
192 427 28_75 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
193 1072 28_75 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
194 1126 28_75 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
195 1191 28_75 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
196 1340 28_36 f 8 c.1340G>C p.C447S missense Karageorgos (2007) 0.023
197 1366 28_36 f 8 c.1366C>T p.Q456* nonsense Karageorgos (2007)
198 1072 28_36 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
199 1126 28_36 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
200 899 28_36 t IVS c.899-27A>C splicing Karageorgos (2007)
201 1191 28_36 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
202 1415 28_69 f 8 c.1415T>C p.L472P missense Karageorgos (2007) 0.016
203 1143 28_69 f 6 c.1143-1G>C p.S381Rfs*12 splicing Karageorgos (2007)
204 1072 28_69 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
205 899 28_69 t IVS c.899-27A>C splicing Karageorgos (2007)
206 1191 28_69 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
207 116 28_72 t 1 c.116_123del8 p.A39Efs*85 small_deletion Karageorgos (2007)
208 1072 28_72 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
209 899 28_72 t IVS c.899-27A>C splicing Karageorgos (2007)
210 1191 28_72 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
211 238 28_3 t 1 c.238delG p.V80Cfs*34 small_deletion Karageorgos (2007)
212 427 28_81 t 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
213 1126 28_81 t 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
214 1191 28_81 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
215 1036 28_34 t 5 c.1036del p.E346Sfs*11 small_deletion Karageorgos (2007)
216 1072 28_34 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
217 1191 28_34 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
218 215 28_55 t 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
219 1072 28_55 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
220 1191 28_55 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
221 215 28_56 t 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
222 1072 28_56 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
223 1191 28_56 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
224 215 28_85 t 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
225 1072 28_85 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
226 1191 28_85 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
227 215 28_105 t 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
228 1072 28_105 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
229 1191 28_105 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
230 293 28_92 t 1 c.293T>A p.L98Q missense Karageorgos (2007) 0.005
231 1072 28_92 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
232 1191 28_92 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
233 899 28_92 t IVS c.899-27A>C splicing Karageorgos (2007)
234 293 28_100 t 1 c.293T>A p.L98Q missense Karageorgos (2007) 0.005
235 1072 28_100 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
236 1191 28_100 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
237 899 28_100 t IVS c.899-27A>C splicing Karageorgos (2007)
238 349 28_47 t 2 c.349T>C p.C117R missense Karageorgos (2007) 0.247
239 1072 28_47 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
240 691 28_47 f IVS c.691-22T>C splicing Karageorgos (2007)
241 454 28_17 t 2 c.454C>T p.R152W missense Karageorgos (2007) 0.053
242 1072 28_17 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
243 1191 28_17 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
244 899 28_17 t IVS c.899-27A>C splicing Karageorgos (2007)
245 478 28_33 t 2 c.478C>T p.R160* nonsense Karageorgos (2007)
246 246 28_33 f 1 c.246G>A p.L82L synonimous Karageorgos (2007)
247 691 28_33 f IVS c.691-22T>C splicing Karageorgos (2007)
248 478 28_62 t 2 c.478C>T p.R160* nonsense Karageorgos (2007)
249 1191 28_62 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
250 899 28_62 t IVS c.899-27A>C splicing Karageorgos (2007)
251 511 28_9 t 3 c.511G>A p.G171S missense Karageorgos (2007) 0.001
252 1191 28_9 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
253 899 28_9 t IVS c.899-27A>C splicing Karageorgos (2007)
254 574 28_26 t 3 c.574T>C p.C192R missense Karageorgos (2007) 0.035
255 1072 28_26 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
256 1191 28_26 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
257 589 28_93 t 3 c.589C>T p.R197* nonsense Karageorgos (2007)
258 1142 28_25 t IVS c.1142+1G>T splicing Karageorgos (2007)
259 1191 28_25 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
260 691 28_25 t IVS c.691-22T>C splicing Karageorgos (2007)
261 944 28_52 t 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
262 962 28_50 t 5 c.962T>C p.L321P missense Karageorgos (2007) 0.029
263 1072 28_50 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
264 1191 28_50 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
265 962 28_30 t 5 c.962T>C p.L321P missense Karageorgos (2007) 0.029
266 1072 28_30 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
267 1191 28_30 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
268 899 28_30 t IVS c.899-27A>C splicing Karageorgos (2007)
269 979 28_38 t 5 c.979C>T p.R327* nonsense Karageorgos (2007)
270 1191 28_38 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
271 899 28_38 t IVS c.899-27A>C splicing Karageorgos (2007)
272 979 28_57 t 5 c.979C>T p.R327* nonsense Karageorgos (2007)
273 1191 28_57 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
274 1151 28_35 t 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
275 1191 28_35 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
276 944 28_83 t 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
277 1151 28_83 t 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
278 1191 28_83 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
279 944 28_84 t 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
280 1151 28_84 t 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
281 1191 28_84 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
282 1289 28_4 t 7 c.1289A>G p.H430R missense Karageorgos (2007) 0.043
283 1072 28_4 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
284 1191 28_4 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
285 1178 28_97 t 6 c.1178A>C p.H393P missense Karageorgos (2007) 0.043
286 1336 28_45 t 7 c.1336+2T>G splicing Karageorgos (2007)
287 691 28_45 t IVS c.691-22T>C splicing Karageorgos (2007)
288 1191 28_45 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
289 1366 28_81 f 8 c.1366C>T p.Q456* nonsense Karageorgos (2007)
290 215 28_7 f 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
291 944 28_7 f 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
292 1151 28_7 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
293 1126 28_7 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
294 1191 28_7 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
295 944 28_90 t 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
296 1151 28_90 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
297 1191 28_90 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
298 899 28_90 f IVS c.899-27A>C splicing Karageorgos (2007)
299 944 28_96 t 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
300 1151 28_96 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
301 1191 28_96 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
302 899 28_96 f IVS c.899-27A>C splicing Karageorgos (2007)
303 1143 28_88 f 6 c.1143-8T>G p.S381Rfs*12 splicing Karageorgos (2007)
304 944 28_88 f 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
305 1126 28_88 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
306 289 28_18 f 1 c.289C>T p.Q97* nonsense Karageorgos (2007)
307 629 28_18 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
308 1191 28_18 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
309 691 28_18 f IVS c.691-22T>C splicing Karageorgos (2007)
310 289 28_19 f 1 c.289C>T p.Q97* nonsense Karageorgos (2007)
311 629 28_19 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
312 1191 28_19 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
313 691 28_19 f IVS c.691-22T>C splicing Karageorgos (2007)
314 289 28_41 f 1 c.289C>T p.Q97* nonsense Karageorgos (2007)
315 1450 28_41 f 8 c.1450A>G p.R484G missense Karageorgos (2007) 0.053
316 1191 28_41 ND 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
317 438 28_27 f 2 c.438G>A p.W146* nonsense Karageorgos (2007)
318 629 28_27 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
319 1126 28_27 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
320 1191 28_27 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
321 438 28_46 f 2 c.438G>A p.W146* nonsense Karageorgos (2007)
322 629 28_46 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
323 1126 28_46 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
324 1191 28_46 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
325 899 28_46 t IVS c.899-27A>C splicing Karageorgos (2007)
326 691 28_62 t IVS c.691-22T>C splicing Karageorgos (2007)
327 478 28_74 t 2 c.478C>T p.R160* nonsense Karageorgos (2007)
328 1191 28_74 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
329 691 28_74 f IVS c.691-22T>C splicing Karageorgos (2007)
330 478 28_24 t 2 c.478C>T p.R160* nonsense Karageorgos (2007)
331 1191 28_24 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
332 691 28_24 f IVS c.691-22T>C splicing Karageorgos (2007)
333 571 28_5 f 3 c.571C>T p.R191* nonsense Karageorgos (2007)
334 1151 28_5 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
335 1191 28_5 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
336 691 28_5 f IVS c.691-22T>C splicing Karageorgos (2007)
337 979 28_37 f 5 c.979C>T p.R327* nonsense Karageorgos (2007)
338 629 28_37 f 3 c.630_636del p.Y210* small_deletion Karageorgos (2007)
339 1072 28_37 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
340 1126 28_37 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
341 1191 28_37 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
342 979 28_78 f 5 c.979C>T p.R327* nonsense Karageorgos (2007)
343 979 28_42 f 5 c.979C>T p.R327* nonsense Karageorgos (2007)
344 1151 28_42 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
345 936 28_42 f 5 c.936G>T p.W312C missense Karageorgos (2007) 0.001
346 1072 28_42 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
347 1191 28_42 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
348 1366 28_95 f 8 c.1366C>T p.Q456* nonsense Karageorgos (2007)
349 418 28_95 f 2 c.418A>C p.T140P missense Karageorgos (2007) 0.042
350 1191 28_95 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
351 1515 28_95 ND 8 c.1515C>T p.Y505Y synonimous Karageorgos (2007)
352 899 28_95 f IVS c.899-27A>C splicing Karageorgos (2007)
353 1419 28_49 f 8 c.1419G>A p.W473* nonsense Karageorgos (2007)
354 108 28_94 f 1 c.108_120del13 p.S37Pfs*15 small_deletion Karageorgos (2007)
355 1072 28_94 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
356 691 28_94 f IVS c.691-22T>C splicing Karageorgos (2007)
357 1191 28_94 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
358 114 28_61 f 1 c.114delG p.A39Pfs*17 small_deletion Karageorgos (2007)
359 1214 28_61 f 7 c.1214G>A p.C405Y missense Karageorgos (2007) 0.118
360 1072 28_61 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
361 899 28_61 f IVS c.899-27A>C splicing Karageorgos (2007)
362 1191 28_61 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
363 245 28_21 f 1 c.245delT P.L82Rfs*32 small_deletion Karageorgos (2007)
364 256 28_44 f 1 c.256_258delTAC p.Y86del small_deletion Karageorgos (2007)
365 944 28_44 f 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
366 1191 28_44 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
367 427 28_43 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
368 707 28_43 f 4 c.707T>C p.L236P missense Karageorgos (2007) 0.023
369 1126 28_43 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
370 1191 28_43 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
371 427 28_80 f 2 c.427delG p.V143Sfs*41 small_deletion Karageorgos (2007)
372 454 28_80 f 2 c.454C>T p.R152W missense Karageorgos (2007) 0.053
373 1072 28_80 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
374 1126 28_80 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
375 1191 28_80 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
376 899 28_80 f IVS c.899-27A>C splicing Karageorgos (2007)
377 489 28_31 f 2 c.489_491delTAC p.T164* small_deletion Karageorgos (2007)
378 629 28_31 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
379 899 28_31 f IVS c.899-27A>C splicing Karageorgos (2007)
380 1126 28_31 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
381 1191 28_31 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
382 1161 28_53 f 6 c.1161dup p.388Qfs*3 small_insertion Karageorgos (2007)
383 305 28_53 f 1 c.305G>A p.R102H missense Karageorgos (2007) 0.073
384 972 28_53 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)
385 1072 28_53 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
386 1191 28_53 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
387 1482 28_23 f 8 c.1482delC p.I494Mfs*80 small_deletion Karageorgos (2007)
388 1289 28_23 f 7 c.1289A>G p.H430R missense Karageorgos (2007) 0.043
389 1072 28_23 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
390 691 28_23 f IVS c.691-22T>C splicing Karageorgos (2007)
391 899 28_23 f IVS c.899-27A>C splicing Karageorgos (2007)
392 1191 28_23 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
393 1534 28_91 f 8 c.1534_1556del p.V512Pfs*3 deletion Karageorgos (2007)
394 1143 28_91 f 6 c.1143-8T>G p.S381Rfs*12 splicing Karageorgos (2007)
395 1072 28_91 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
396 691 28_91 f IVS c.691-22T>C splicing Karageorgos (2007)
397 899 28_91 f IVS c.899-27A>C splicing Karageorgos (2007)
398 1191 28_91 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
399 1534 28_101 f 8 c.1534_1556del p.V512Pfs*3 deletion Karageorgos (2007)
400 1126 28_101 t 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
401 899 28_101 t IVS c.899-27A>C splicing Karageorgos (2007)
402 1191 28_101 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
403 1582 28_66 f 8 c.1582_1596del p.V528_W532* small_deletion Karageorgos (2007)
404 629 28_66 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
405 1072 28_66 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
406 899 28_66 f IVS c.899-27A>C splicing Karageorgos (2007)
407 1191 28_66 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
408 1582 28_63 f 8 c.1582_1596del p.V528_W532* small_deletion Karageorgos (2007)
409 629 28_63 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
410 1072 28_63 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
411 899 28_63 f IVS c.899-27A>C splicing Karageorgos (2007)
412 1191 28_63 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
413 312 28_28 f 1 c.312G>C p.Q104H splicing Karageorgos (2007) 0.044
414 454 28_28 f 2 c.454C>T p.R152W missense Karageorgos (2007) 0.053
415 1072 28_28 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
416 1126 28_28 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
417 1191 28_28 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
418 899 28_28 f IVS c.899-27A>C splicing Karageorgos (2007)
419 312 28_59 f 1 c.312G>C p.Q104H splicing Karageorgos (2007) 0.044
420 1214 28_59 f 7 c.1214G>A p.C405Y missense Karageorgos (2007) 0.118
421 1072 28_59 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
422 1191 28_59 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
423 691 28_59 t IVS c.691-22T>C splicing Karageorgos (2007)
424 899 28_59 f IVS c.899-27A>C splicing Karageorgos (2007)
425 899 28_25 t IVS c.899-27A>C splicing Karageorgos (2007)
426 1143 28_86 f 6 c.1143-1G>C p.S381Rfs*12 splicing Karageorgos (2007)
427 1143 28_86 f 6 c.1143-8T>G p.S381Rfs*12 splicing Karageorgos (2007)
428 1072 28_86 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
429 1191 28_86 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
430 899 28_86 f IVS c.899-27A>C splicing Karageorgos (2007)
431 1143 28_87 f 6 c.1143-1G>C p.S381Rfs*12 splicing Karageorgos (2007)
432 1143 28_87 f 6 c.1143-8T>G p.S381Rfs*12 splicing Karageorgos (2007)
433 1072 28_87 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
434 1191 28_87 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
435 899 28_87 f IVS c.899-27A>C splicing Karageorgos (2007)
436 1143 28_99 f 6 c.1143-1G>C p.S381Rfs*12 splicing Karageorgos (2007)
437 215 28_99 f 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
438 1072 28_99 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
439 1191 28_99 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
440 899 28_99 f IVS c.899-27A>C splicing Karageorgos (2007)
441 1126 28_91 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
442 1143 28_104 f 6 c.1143-8T>G p.S381Rfs*12 splicing Karageorgos (2007)
443 944 28_104 f 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
444 1191 28_104 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
445 1213 28_6 f 6 c.1213+5G>A splicing Karageorgos (2007)
446 1336 28_6 f 7 c.1336G>C p.G446R missense Karageorgos (2007) 0.210
447 1072 28_6 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
448 1191 28_6 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
449 899 28_6 f IVS c.899-27A>C splicing Karageorgos (2007)
450 1214 28_10 f 7 c.1214-2A>G splicing Karageorgos (2007)
451 1057 28_10 f 5 c.1057T>A p.W353R missense Karageorgos (2007) 0.064
452 1072 28_10 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
453 1191 28_10 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
454 899 28_10 f IVS c.899-27A>C splicing Karageorgos (2007)
455 1336 28_64 f 7 c.1336+2T>G splicing Karageorgos (2007)
456 349 28_64 f 2 c.349T>C p.C117R missense Karageorgos (2007) 0.247
457 1191 28_64 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
458 691 28_64 t IVS c.691-22T>C splicing Karageorgos (2007)
459 284 28_1 f 1 c.284G>A p.R95Q missense Karageorgos (2007) 0.119
460 1178 28_1 f 6 c.1178A>C p.H393P missense Karageorgos (2007) 0.043
461 691 28_1 f IVS c.691-22T>C splicing Karageorgos (2007)
462 1191 28_1 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
463 284 28_11 f 1 c.284G>A p.R95Q missense Karageorgos (2007) 0.119
464 629 28_11 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
465 937 28_12 f 5 c.937C>G p.P313A missense Karageorgos (2007) 0.000
466 427 28_12 f 2 c.427delG p.V143Sfs*41 gross_deletion Karageorgos (2007)
467 972 28_12 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)
468 1072 28_12 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
469 1191 28_12 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
470 629 28_13 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
471 937 28_13 f 5 c.937C>G p.P313A missense Karageorgos (2007) 0.000
472 1191 28_13 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
473 629 28_14 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
474 427 28_14 f 2 c.427delG p.V143Sfs*41 gross_deletion Karageorgos (2007)
475 1126 28_14 f 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
476 1191 28_14 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
477 899 28_14 f IVS c.899-27A>C splicing Karageorgos (2007)
478 937 28_15 f 5 c.937C>G p.P313A missense Karageorgos (2007) 0.000
479 629 28_15 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
480 1191 28_15 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
481 454 28_16 f 2 c.454C>T p.R152W missense Karageorgos (2007) 0.053
482 937 28_16 f 5 c.937C>G p.P313A missense Karageorgos (2007) 0.000
483 1072 28_16 f 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
484 1191 28_16 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
485 899 28_16 f IVS c.899-27A>C splicing Karageorgos (2007)
486 349 28_29 f 2 c.349T>C p.C117R missense Karageorgos (2007) 0.247
487 629 28_29 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
488 691 28_29 f IVS c.691-22T>C splicing Karageorgos (2007)
489 1191 28_29 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
490 629 28_40 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
491 1126 28_40 t 5 c.1126G>A p.V376M missense Karageorgos (2007) 0.030
492 1191 28_40 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
493 629 28_60 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
494 1178 28_60 f 6 c.1178A>C p.H393P missense Karageorgos (2007) 0.043
495 691 28_60 f IVS c.691-22T>C splicing Karageorgos (2007)
496 1191 28_60 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
497 629 28_67 f 3 c.629A>G p.Y210C missense Karageorgos (2007) 0.022
498 1151 28_67 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
499 1191 28_67 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
500 215 28_89 f 1 c.215T>G p.L72R missense Karageorgos (2007) 0.096
501 1151 28_89 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
502 1072 28_89 t 5 c.1072G>A p.V358M missense Karageorgos (2007) 0.001
503 1191 28_89 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
504 944 28_102 f 5 c.944G>A p.R315Q missense Karageorgos (2007) 0.047
505 1151 28_102 f 6 c.1151G>A p.S384N missense Karageorgos (2007) 0.023
506 1191 28_102 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)
507 509 9_1 f 3 c.509T>G p.L170R missense Dou (2006) 0.099
508 589 9_1 f 3 c.589C>T p.R197* nonsense Dou (2006)
509 253 12_1 t 1 c.253T>C p.Y85H missense Furujo (2011) 0.060
510 253 12_2 t 1 c.253T>C p.Y85H missense Furujo (2011) 0.060
511 937 13_1 f 5 c.937C>G p.P313A missense Garrido (2007) 0.000
512 899 13_1 f 5 c.899_1142del p.D300Vfs*193 deletion Garrido (2007)
513 1143 13_2 t 6 c.1143-8T>G p.S381Rfs*12 splicing Garrido (2007)
514 479 13_3 f 2 c.479G>A p.R160Q missense Garrido (2007) 0.107
515 1143 13_3 f 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
516 427 13_4 f 2 c.427delG p.V143Sfs*41 small_deletion Garrido (2007)
517 966 13_4 f 5 c.966G>A p.W322* nonsense Garrido (2007)
518 245 13_5 t 1 c.245T>G p.L82R missense Garrido (2007) 0.042
519 1415 13_6 f 8 c.1415T>C p.L472P missense Garrido (2007) 0.016
520 1143 13_6 f 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
521 237 13_7 f 1 c.237_243delGGTGCTC p.V80Wfs32 small_deletion Garrido (2007)
522 1143 13_7 f 6 c.1143-8T>G p.S381Rfs*12 splicing Garrido (2007)
523 478 13_8 t 2 c.478C>T p.R160* nonsense Garrido (2007)
524 238 13_9 f 1 c.238delG p.V80Cfs*34 small_deletion Garrido (2007)
525 1142 13_9 f 5 c.1142+2T>A p.D300Vfs*193 splicing Garrido (2007)
526 1340 13_10 f 8 c.1340G>T p.C447F missense Garrido (2007) 0.192
527 427 13_10 f 2 c.427delG p.V143Sfs*41 small_deletion Garrido (2007)
528 413 13_11 f 2 c.413A>G p.Y138C missense Garrido (2007) 0.021
529 1143 13_11 f 6 c.1143-8T>G p.S381Rfs*12 splicing Garrido (2007)
530 284 13_12 f 1 c.284G>A p.R95Q missense Garrido (2007) 0.119
531 1143 13_12 f 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
532 1143 13_13 t 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
533 944 13_14 f 5 c.944G>A p.R315Q missense Garrido (2007) 0.047
534 922 13_14 f 5 c.922G>A p.G308R missense Garrido (2007) 0.245
535 1340 13_15 f 8 c.1340G>T p.C447F missense Garrido (2007) 0.192
536 1143 13_15 f 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
537 719 13_16 f 4 c.719C>T missense Garrido (2007) 0.259
538 1143 13_16 f 6 c.1143-1G>C p.S381Rfs*12 splicing Garrido (2007)
539 245 8_1 f 1 c.245T>G p.L82R missense Di Natale (2008) 0.042
540 944 8_1 f 5 c.944G>A p.R315Q missense Di Natale (2008) 0.047
541 943 8_2 f 5 c.943C>T p.R315* nonsense Di Natale (2008)
542 1475 8_2 f 8 c.1475delC p.P492Lfs*80 small_deletion Di Natale (2008)
543 725 8_3 f 4 c.725A>C p.H242P missense Di Natale (2008) 0.088
544 1213 8_3 f 6 c.1213+6T>C splicing Di Natale (2008)
545 943 8_4 t 5 c.943C>T p.R315* nonsense Di Natale (2008)
546 430 15_1 f 2 c.430G>A p.G144R missense Giraldo (2016) 0.251
547 361 15_1 f 2 c.361T>C p.C121R missense Giraldo (2016) 0.097
548 332 15_2 f 2 c.332A>C p.H111P missense Giraldo (2016) 0.075
549 1143 15_2 f 6 c.1143-1G>C p.S381Rfs*12 splicing Giraldo (2016)
550 332 15_3 t 2 c.332A>C p.H111P missense Giraldo (2016) 0.075
551 332 15_4 f 2 c.332A>C p.H111P missense Giraldo (2016) 0.075
552 1143 15_4 f 6 c.1143-1G>C p.S381Rfs*12 splicing Giraldo (2016)
553 332 15_5 f 2 c.332A>C p.H111P missense Giraldo (2016) 0.075
554 1143 15_5 f 6 c.1143-1G>C p.S381Rfs*12 splicing Giraldo (2016)
555 384 15_6 f 2 c.384_386delCCT p.L129* small_deletion Giraldo (2016)
556 966 15_6 f 5 c.966G>A p.W322* nonsense Giraldo (2016)
557 904 15_7 t 5 c.904G>A p.G302R missense Giraldo (2016) 0.114
558 900 15_8 t 5 c.900T>G p.D300E missense Giraldo (2016) 0.049
559 1336 15_9 t 7 c.1336G>A p.G446S missense Giraldo (2016) 0.045
560 440 15_10 f 2 c.440A>C p.H147P missense Giraldo (2016) 0.045
561 1601 15_10 f >8 c.1601A>G p.*534Wnext*50 missense Giraldo (2016)
562 440 15_11 f 2 c.440A>C p.H147P missense Giraldo (2016) 0.045
563 1531 15_11 f 8 c.1531_1553del p.Y513* nonsense Giraldo (2016)
564 1001 15_12 f 5 c.1001G>T p.S334I missense Giraldo (2016) 0.073
565 1340 15_12 f 8 c.1340G>T p.C447F missense Giraldo (2016) 0.192
566 1001 15_13 t 5 c.1001G>T p.S334I missense Giraldo (2016) 0.073
567 904 15_14 t 5 c.904G>A p.G302R missense Giraldo (2016) 0.114
568 629 16_1 t 3 c.629A>G p.Y210C missense Gottwald (2011) 0.022
569 574 19_1 t 3 c.574T>C p.C192R missense Jester (2013) 0.035
570 574 19_2 t 3 c.574T>C p.C192R missense Jester (2013) 0.035
571 750 22_1 t 4 c.750_754delinsCCTGAAGTCAAG p.E250Dfs*9 small_indel Jurecka (2012)
572 98 22_1 t 1 c.98C>T p.A33V missense Jurecka (2012)
573 629 22_2 f 3 c.629A>G p.Y210C missense Jurecka (2012) 0.022
574 262 22_3 f 1 c.262C>T p.Q88* nonsense Jurecka (2012)
575 454 22_3 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
576 454 22_4 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
577 797 22_5 t 4 c.797A>C p.Y266S missense Jurecka (2012) 0.035
578 98 22_5 t 1 c.98C>T p.A33V missense Jurecka (2012)
579 289 22_6 f 1 c.289C>T p.Q97* nonsense Jurecka (2012)
580 454 22_6 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
581 629 22_7 f 3 c.629A>G p.Y210C missense Jurecka (2012) 0.022
582 275 22_7 f 1 c.275C>A p.T92K missense Jurecka (2012) 0.125
583 171 22_8 f 1 c.171G>C p.W57C missense Jurecka (2012) 0.001
584 454 22_8 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
585 797 22_9 t 4 c.797A>C p.Y266S missense Jurecka (2012) 0.035
586 98 22_9 t 1 c.98C>T p.A33V missense Jurecka (2012)
587 797 22_10 t 4 c.797A>C p.Y266S missense Jurecka (2012) 0.035
588 98 22_10 t 1 c.98C>T p.A33V missense Jurecka (2012)
589 454 22_11 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
590 454 22_12 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
591 454 22_13 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
592 478 22_14 f 2 c.478C>T p.R160* nonsense Jurecka (2012)
593 479 22_14 f 2 c.479G>A p.R160Q missense Jurecka (2012) 0.107
594 454 22_15 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
595 454 22_16 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
596 454 22_17 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
597 375 22_17 f 2 c.375dup p.E126* small_insertion Jurecka (2012)
598 454 22_18 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
599 499 22_18 f 2 c.499G>A p.G167R missense Jurecka (2012) 0.232
600 454 22_19 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
601 499 22_19 f 2 c.499G>A p.G167R missense Jurecka (2012) 0.232
602 454 22_20 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
603 499 22_20 f 2 c.499G>A p.G167R missense Jurecka (2012) 0.232
604 454 22_21 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
605 499 22_21 f 2 c.499G>A p.G167R missense Jurecka (2012) 0.232
606 454 22_22 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
607 454 22_23 f 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
608 904 22_23 f 5 c.904G>A p.G302R missense Jurecka (2012) 0.114
609 454 22_24 t 2 c.454C>T p.R152W missense Jurecka (2012) 0.053
610 574 24_7 t 3 c.574T>C p.C192R missense Jurecka (2014) 0.035
611 629 24_8 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
612 284 24_9 f 1 c.284G>A p.R95Q missense Jurecka (2014) 0.119
613 629 24_9 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
614 284 24_10 f 1 c.284G>A p.R95Q missense Jurecka (2014) 0.119
615 629 24_10 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
616 629 24_11 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
617 1178 24_12 f 6 c.1178A>G p.H393R missense Jurecka (2014) 0.024
618 275 24_13 f 1 c.275C>T p.T92M missense Jurecka (2014) 0.049
619 1493 24_13 f 8 c.1493T>C p.L498P missense Jurecka (2014) 0.025
620 937 24_14 f 5 c.937C>G p.P313A missense Jurecka (2014) 0.000
621 1442 24_14 f 8 c.1442C>T p.P481L missense Jurecka (2014) 0.036
622 629 24_15 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
623 904 24_15 f 5 c.904G>A p.G302R missense Jurecka (2014) 0.114
624 629 24_16 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
625 904 24_16 f 5 c.904G>A p.G302R missense Jurecka (2014) 0.114
626 629 24_17 t 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
627 454 24_18 f 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
628 312 24_18 f 1 c.312G>C p.Q104H splicing Jurecka (2014) 0.044
629 454 24_19 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
630 478 24_20 f 2 c.478C>T p.R160* nonsense Jurecka (2014)
631 629 24_20 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
632 478 24_21 f 2 c.478C>T p.R160* nonsense Jurecka (2014)
633 629 24_21 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
634 574 24_22 t 3 c.574T>C p.C192R missense Jurecka (2014) 0.035
635 629 24_23 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
636 438 24_23 f 2 c.438G>A p.W146* nonsense Jurecka (2014)
637 629 24_24 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
638 629 24_25 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
639 629 24_26 f 3 c.629A>G p.Y210C missense Jurecka (2014) 0.022
640 454 24_27 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
641 454 24_28 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
642 454 24_29 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
643 454 24_30 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
644 454 24_31 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
645 454 24_32 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
646 454 24_33 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
647 454 24_34 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
648 454 24_35 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
649 454 24_36 t 2 c.454C>T p.R152W missense Jurecka (2014) 0.053
650 208 25_1 t 1 c.208_215del p.P70Gfs*54 small_deletion Kantaputra (2014)
651 479 25_2 t 2 c.479G>A p.R160Q missense Kantaputra (2014) 0.107
652 479 25_3 t 2 c.479G>A p.R160Q missense Kantaputra (2014) 0.107
653 962 25_4 t 5 c.962T>C p.L321P missense Kantaputra (2014) 0.029
654 962 25_5 t 5 c.962T>C p.L321P missense Kantaputra (2014) 0.029
655 962 25_6 t 5 c.962T>C p.L321P missense Kantaputra (2014) 0.029
656 1168 25_7 t 6 c.1168G>A p.E390K missense Kantaputra (2014) 1.667
657 1168 25_8 t 6 c.1168G>A p.E390K missense Kantaputra (2014) 1.667
658 1208 25_9 t 6 c.1208delC p.S403Yfs*71 small_deletion Kantaputra (2014)
659 1334 25_10 t 7 c.1334C>T p.P445L missense Kantaputra (2014) 0.066
660 1350 25_10 t 8 c.1350G>C p.W450C missense Kantaputra (2014) 0.035
661 1350 25_11 t 8 c.1350G>C p.W450C missense Kantaputra (2014) 0.035
662 1577 25_12 t 8 c.1577delC p.T526Mfs*48 small_deletion Kantaputra (2014)
663 1577 25_13 t 8 c.1577delC p.T526Mfs*48 small_deletion Kantaputra (2014)
664 157 25_14 t 1 c.157G>A p.D53N missense Kantaputra (2014) 0.076
665 962 25_15 t 5 c.962T>C p.L321P missense Kantaputra (2014) 0.029
666 1127 25_16 t 5 c.1127T>A p.V376E missense Kantaputra (2014) 0.182
667 962 25_17 t 5 c.962T>C p.L321P missense Kantaputra (2014) 0.029
668 284 29_1 f 1 c.284G>A p.R95Q missense Karageorgos (2007)_2 0.119
669 1178 29_1 f 6 c.1178A>C p.H393P missense Karageorgos (2007)_2 0.043
670 691 29_1 f IVS c.691-22T>C splicing Karageorgos (2007)_2
671 1191 29_1 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
672 389 29_2 f 2 c.389C>T p.P130L missense Karageorgos (2007)_2 0.114
673 305 29_2 f 1 c.305G>A p.R102H missense Karageorgos (2007)_2 0.073
674 427 29_2 f 2 c.427delG p.V143Sfs*41 gross_deletion Karageorgos (2007)_2
675 1072 29_2 f 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
676 1126 29_2 f 5 c.1126G>A p.V376M missense Karageorgos (2007)_2 0.030
677 972 29_2 f 5 c.972A>G p.G324G synonimous Karageorgos (2007)_2
678 1191 29_2 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
679 899 29_2 f IVS c.899-27A>C splicing Karageorgos (2007)_2
680 238 29_3 t 1 c.238delG p.V80Cfs*34 small_deletion Karageorgos (2007)_2
681 1289 29_4 t 7 c.1289A>G p.H430R missense Karageorgos (2007)_2 0.043
682 1072 29_4 t 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
683 1191 29_4 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
684 899 29_4 t IVS c.899-27A>C splicing Karageorgos (2007)_2
685 571 29_5 f 3 c.571C>T p.R191* nonsense Karageorgos (2007)_2
686 1151 29_5 f 6 c.1151G>A p.S384N missense Karageorgos (2007)_2 0.023
687 691 29_5 f IVS c.691-22T>C splicing Karageorgos (2007)_2
688 1191 29_5 f 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
689 1336 29_6 f 7 c.1336G>C p.G446R missense Karageorgos (2007)_2 0.210
690 1213 29_6 f 6 c.1213+5G>A splicing Karageorgos (2007)_2
691 1072 29_6 t 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
692 1191 29_6 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
693 899 29_6 f IVS c.899-27A>C splicing Karageorgos (2007)_2
694 215 29_7 f 1 c.215T>G p.L72R missense Karageorgos (2007)_2 0.096
695 944 29_7 f 5 c.944G>A p.R315Q missense Karageorgos (2007)_2 0.047
696 1151 29_7 f 6 c.1151G>A p.S384N missense Karageorgos (2007)_2 0.023
697 1072 29_7 f 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
698 1191 29_7 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
699 323 29_8 f 2 c.323G>T p.G108V missense Karageorgos (2007)_2 0.029
700 904 29_8 f 5 c.904G>A p.G302R missense Karageorgos (2007)_2 0.114
701 1072 29_8 f 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
702 899 29_8 f IVS c.899-27A>C splicing Karageorgos (2007)_2
703 1191 29_8 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
704 511 29_9 t 3 c.511G>A p.G171S missense Karageorgos (2007)_2 0.001
705 899 29_9 t IVS c.899-27A>C splicing Karageorgos (2007)_2
706 1191 29_9 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
707 1057 29_10 f 5 c.1057T>C p.W353R missense Karageorgos (2007)_2 0.064
708 1214 29_10 f 7 c.1214-2A>G splicing Karageorgos (2007)_2
709 1072 29_10 f 5 c.1072G>A p.V358M missense Karageorgos (2007)_2 0.001
710 899 29_10 f IVS c.899-27A>C splicing Karageorgos (2007)_2
711 1191 29_10 t 6 c.1191A>G p.P397P synonimous Karageorgos (2007)_2
712 1197 31_1 t 6 c.1197C>G p.F399L missense Lin (2008) 0.094
713 1072 31_1 f 5 c.1072G>A p.V358M missense Lin (2008) 0.001
714 1191 31_1 f 6 c.1191A>G p.P397P synonimous Lin (2008)
715 574 31_2 f 3 c.574T>C p.C192R missense Lin (2008) 0.035
716 1072 31_2 t 5 c.1072G>A p.V358M missense Lin (2008) 0.001
717 1191 31_2 f 6 c.1191A>G p.P397P synonimous Lin (2008)
718 1288 31_3 f 7 c.1288C>A p.H430N missense Lin (2008) 0.126
719 1072 31_3 f 5 c.1072G>A p.V358M missense Lin (2008) 0.001
720 1191 31_3 f 6 c.1191A>G p.P397P synonimous Lin (2008)
721 1197 31_4 f 6 c.1197C>G p.F399L missense Lin (2008) 0.094
722 1394 31_4 f 8 c.1394C>G p.S465* nonsense Lin (2008)
723 1072 31_4 t 5 c.1072G>A p.V358M missense Lin (2008) 0.001
724 1191 31_4 f 6 c.1191A>G p.P397P synonimous Lin (2008)
725 395 31_5 t 2 c.395T>C p.L132P missense Lin (2008) 0.044
726 1072 31_5 f 5 c.1072G>A p.V358M missense Lin (2008) 0.001
727 1191 31_5 f 6 c.1191A>G p.P397P synonimous Lin (2008)
728 943 31_6 f 5 c.943C>T p.R315* nonsense Lin (2008)
729 1197 31_6 f 6 c.1197C>G p.F399L missense Lin (2008) 0.094
730 1072 31_6 f 5 c.1072G>A p.V358M missense Lin (2008) 0.001
731 1191 31_6 f 6 c.1191A>G p.P397P synonimous Lin (2008)
732 395 31_7 f 2 c.395T>C p.L132P missense Lin (2008) 0.044
733 1072 31_7 t 5 c.1072G>A p.V358M missense Lin (2008) 0.001
734 1191 31_7 t 6 c.1191A>G p.P397P synonimous Lin (2008)
735 716 31_8 f 4 c.716A>G p.Q239R missense Lin (2008) 0.084
736 1197 31_8 f 6 c.1197C>G p.F399L missense Lin (2008) 0.094
737 1072 31_8 t 5 c.1072G>A p.V358M missense Lin (2008) 0.001
738 1191 31_8 f 6 c.1191A>G p.P397P synonimous Lin (2008)
739 908 31_9 t 5 c.908G>A p.G303E missense Lin (2008) 0.199
740 1072 31_9 f 5 c.1072G>A p.V358M missense Lin (2008) 0.001
741 1191 31_9 f 6 c.1191A>G p.P397P synonimous Lin (2008)
742 284 34_1 f 1 c.284G>A p.R95Q missense Litjens (1996) 0.119
743 1178 34_1 f 6 c.1178A>C p.H393P missense Litjens (1996) 0.043
744 1178 34_2 f 6 c.1178A>C p.H393P missense Litjens (1996) 0.043
745 629 34_3 f 3 c.629A>G p.Y210C missense Litjens (1996) 0.022
746 1178 34_3 f 6 c.1178A>C p.H393P missense Litjens (1996) 0.043
747 629 34_4 f 3 c.629A>G p.Y210C missense Litjens (1996) 0.022
748 284 34_5 f 1 c.284G>A p.R95Q missense Litjens (1996) 0.119
749 629 34_5 f 3 c.629A>G p.Y210C missense Litjens (1996) 0.022
750 284 34_6 f 1 c.284G>A p.R95Q missense Litjens (1996) 0.119
751 629 34_6 f 3 c.629A>G p.Y210C missense Litjens (1996) 0.022
752 629 34_7 f 3 c.629A>G p.Y210C missense Litjens (1996) 0.022
753 1178 34_8 f 6 c.1178A>C p.H393P missense Litjens (1996) 0.043
754 275 34_9 f 1 c.275C>T p.T92M missense Litjens (1996) 0.049
755 1493 34_9 f 8 c.1493T>C p.L498P missense Litjens (1996) 0.025
756 1350 35_1 f 8 c.1350G>C p.W450C missense Mathew (2015) 0.035
757 293 35_2 t 1 c.293T>G p.L98R missense Mathew (2015) 0.048
758 1350 35_3 t 8 c.1350G>C p.W450C missense Mathew (2015) 0.035
759 157 35_5 t 1 c.157G>A p.D53N missense Mathew (2015) 0.076
760 944 35_6 t 5 c.944G>C p.R315P missense Mathew (2015) 0.075
761 944 35_7 t 5 c.944G>C p.R315P missense Mathew (2015) 0.075
762 479 35_8 t 2 c.479G>A p.R160Q missense Mathew (2015) 0.107
763 271 35_9 t 1 c.271T>C p.C91R missense Mathew (2015) 0.103
764 113 35_10 t 1 c.113_121del9 p.G38_G40* small_deletion Mathew (2015)
765 1457 36_1 t 8 c.1457A>T p.D486V missense Nouri (2012) 0.069
766 1457 36_2 t 8 c.1457A>T p.D486V missense Nouri (2012) 0.069
767 1457 36_3 t 8 c.1457A>T p.D486V missense Nouri (2012) 0.069
768 278 37_1 t 1 c.278C>T p.P93L missense Okamura (2013) 0.008
769 1533 39_1 t 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
770 1533 39_2 t 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
771 1533 39_3 f 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
772 944 39_3 f 5 c.944G>A p.R315Q missense Petry (2005) 0.047
773 1126 39_3 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
774 1533 39_4 f 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
775 944 39_4 f 5 c.944G>A p.R315Q missense Petry (2005) 0.047
776 1126 39_4 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
777 427 39_5 f 2 c.427delG p.V143Sfs*41 small_deletion Petry (2005)
778 430 39_5 f 2 c.430G>A p.G144R missense Petry (2005) 0.251
779 1072 39_5 f 5 c.1072G>A p.V358M missense Petry (2005) 0.001
780 1126 39_5 t 5 c.1126G>A p.V376M missense Petry (2005) 0.030
781 277 39_6 f 1 c.277C>T p.P93S missense Petry (2005) 0.008
782 1072 39_6 f 5 c.1072G>A p.V358M missense Petry (2005) 0.001
783 1126 39_6 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
784 1191 39_6 f 6 c.1191A>G p.P397P synonimous Petry (2005)
785 944 39_7 t 5 c.944G>A p.R315Q missense Petry (2005) 0.047
786 1126 39_7 t 5 c.1126G>A p.V376M missense Petry (2005) 0.030
787 1533 39_8 t 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
788 1533 39_9 f 8 c.1534_1556del p.V512Pfs*3 gross_deletion Petry (2005)
789 1143 39_9 f 6 c.1143-8T>G p.S381Rfs*12 splicing Petry (2005)
790 1126 39_9 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
791 1191 39_9 f 6 c.1191A>G p.P397P synonimous Petry (2005)
792 175 39_10 f 1 c.175G>A p.D59N missense Petry (2005) 0.075
793 1072 39_10 f 5 c.1072G>A p.V358M missense Petry (2005) 0.001
794 1126 39_10 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
795 427 39_11 f 2 c.427delG p.V143Sfs*41 small_deletion Petry (2005)
796 215 39_11 f 1 c.215T>G p.L72R missense Petry (2005) 0.096
797 1072 39_11 f 5 c.1072G>A p.V358M missense Petry (2005) 0.001
798 1126 39_11 f 5 c.1126G>A p.V376M missense Petry (2005) 0.030
799 264 39_12 f 1 c.264G>C p.Q88H missense Petry (2005) 0.094
800 1072 39_12 f 5 c.1072G>A p.V358M missense Petry (2005) 0.001
801 1126 39_12 t 5 c.1126G>A p.V376M missense Petry (2005) 0.030
802 1191 39_12 f 6 c.1191A>G p.P397P synonimous Petry (2005)
803 1279 39_13 f 7 c.1279delA p.T427Hfs*147 small_deletion Petry (2005)
804 1151 39_13 f 6 c.1151G>A p.S384N missense Petry (2005) 0.023
805 1126 39_13 t 5 c.1126G>A p.V376M missense Petry (2005) 0.030
806 1191 39_13 f 6 c.1191A>G p.P397P synonimous Petry (2005)
807 1143 39_14 t 6 c.1143-8T>G p.S381Rfs*12 splicing Petry (2005)
808 1191 39_14 t 6 c.1191A>G p.P397P synonimous Petry (2005)
809 589 39_15 t 3 c.589C>T p.R197* nonsense Petry (2005)
810 1126 39_15 t 5 c.1126G>A p.V376M missense Petry (2005) 0.030
811 260 40_1 t 1 c.260C>G p.T87R missense Pollard (2013) 0.205
812 312 40_2 f 1 c.312G>C p.Q104H splicing Pollard (2013) 0.044
813 275 40_2 f 1 c.275C>T p.T92M missense Pollard (2013) 0.049
814 1052 40_3 t 5 c.1052C>T p.S351F missense Pollard (2013) 0.163
815 1449 40_4 f 8 c.1449A>T p.E483D missense Pollard (2013) 0.038
816 1195 40_4 f 6 c.1195T>C p.F399L missense Pollard (2013) 0.094
817 753 42_1 t 4 c.753C>G p.Y251* nonsense Sillence (2011)
818 157 44_1 t 1 c.157G>A p.D53N missense Uttarilli (2015) 0.076
819 160 44_2 t 1 c.160G>A p.D54N missense Uttarilli (2015) 0.130
820 293 44_3 t 1 c.293T>G p.L98R missense Uttarilli (2015) 0.048
821 293 44_4 t 1 c.293T>G p.L98R missense Uttarilli (2015) 0.048
822 293 44_5 t 1 c.293T>G p.L98R missense Uttarilli (2015) 0.048
823 306 44_6 t 1 c.307_312+147del small_insertion Uttarilli (2015)
824 146 44_6 t 1 c.146del small_deletion Uttarilli (2015)
825 496 44_7 t 2 c.498del p.F166fs*18 small_deletion Uttarilli (2015)
826 710 44_8 t 4 c.710C>A p.A237D missense Uttarilli (2015) 0.045
827 659 44_9 f 3 c.659_660del p.I220fs*5 small_deletion Uttarilli (2015)
828 960 44_9 f 5 c.960C>G p.S320R missense Uttarilli (2015) 0.254
829 1059 44_10 t 5 c.1059G>A p.W353* nonsense Uttarilli (2015)
830 1178 44_11 t 6 c.1178A>G p.H393R missense Uttarilli (2015) 0.024
831 1349 44_12 t 8 c.1349G>T p.W450L missense Uttarilli (2015) 0.039
832 1349 44_13 t 8 c.1349G>T p.W450L missense Uttarilli (2015) 0.039
833 1350 44_14 t 8 c.1350G>C p.W450C missense Uttarilli (2015) 0.035
834 1350 44_15 t 8 c.1350G>C p.W450C missense Uttarilli (2015) 0.035
835 194 46_1 t 1 c.194C>T p.S65F missense Villani (1999) 0.072
836 342 46_1 t 2 c.342T>C p.I114I synonimous Villani (1999)
837 370 46_1 t 2 c.370T>C p.L124L synonimous Villani (1999)
838 972 46_1 t 5 c.972A>G p.G324G synonimous Villani (1999)
839 1072 46_1 t 5 c.1072G>A p.V358M missense Villani (1999) 0.001
840 347 46_2 t 2 c.347C>A p.P116H missense Villani (1999) 0.078
841 944 46_3 t 5 c.944G>A p.R315Q missense Villani (1999) 0.047
842 1507 46_4 t 8 c.1507C>T p.Q503* nonsense Villani (1999)
843 370 46_4 t 2 c.370T>C p.L124L synonimous Villani (1999)
844 1072 46_4 t 5 c.1072G>A p.V358M missense Villani (1999) 0.001
845 1592 46_5 t 8 c.1592C>G p.P531R missense Villani (1999) 0.112
846 410 51_1 t 2 c.410G>T p.G137V missense Wicker (1991) 0.008
847 716 52_1 f 4 c.716A>G p.Q239R missense Wu (2000) 0.084
848 574 52_1 f 3 c.574T>C p.C192R missense Wu (2000) 0.035
849 160 56_1 f 1 c.160G>A p.D54N missense Zanetti (2014) 0.130
850 1057 56_1 f 5 c.1057T>A p.W353R missense Zanetti (2014) 0.064
851 1072 56_1 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
852 532 56_2 t 3 c.532C>G p.H178D missense Zanetti (2014) 0.312
853 1191 56_2 t 6 c.1191G>A synonimous Zanetti (2014)
854 903 56_3 t 5 c.903C>G p.N301K missense Zanetti (2014) 0.148
855 1151 56_3 t 6 c.1151G>A p.S384N missense Zanetti (2014) 0.023
856 962 56_4 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
857 1072 56_4 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
858 962 56_5 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
859 1072 56_5 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
860 962 56_6 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
861 1072 56_6 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
862 962 56_7 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
863 1072 56_7 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
864 962 56_8 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
865 1072 56_8 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
866 962 56_9 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
867 1072 56_9 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
868 962 56_10 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
869 1072 56_10 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
870 962 56_11 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
871 1072 56_11 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
872 962 56_12 t 5 c.962T>C p.L321P missense Zanetti (2014) 0.029
873 1072 56_12 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
874 1036 56_13 t 5 c.1036del p.E346Sfs*11 small_deletion Zanetti (2014)
875 1072 56_13 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
876 1036 56_14 t 5 c.1036del p.E346Sfs*11 small_deletion Zanetti (2014)
877 1072 56_14 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
878 1036 56_15 t 5 c.1036del p.E346Sfs*11 small_deletion Zanetti (2014)
879 1072 56_15 t 5 c.1072G>A p.V358M missense Zanetti (2014) 0.001
880 1079 56_16 t 5 c.1079T>C p.L360P missense Zanetti (2014) 0.037
881 1151 56_16 t 6 c.1151G>A p.S384N missense Zanetti (2014) 0.023
882 1079 56_17 t 5 c.1079T>C p.L360P missense Zanetti (2014) 0.037
883 1151 56_17 t 6 c.1151G>A p.S384N missense Zanetti (2014) 0.023
884 1577 56_18 t 8 c.1577delC p.T526Mfs*48 small_deletion Zanetti (2014)
885 979 57_1 t 5 c.979C>T p.R327* nonsense Zheng (2014)
886 523 57_2 f 3 c.523T>G p.Y175D missense Zheng (2014) 0.049
887 1197 57_2 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
888 1197 57_3 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
889 1197 57_4 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
890 1197 57_6 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
891 1197 57_7 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
892 1391 57_7 f 8 c.1391C>A p.S464* nonsense Zheng (2014)
893 908 57_8 f 5 c.908G>A p.G303E missense Zheng (2014) 0.199
894 1208 57_8 f 6 c.1208C>G p.S403* nonsense Zheng (2014)
895 1197 57_9 f 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
896 1197 57_10 t 6 c.(312+1_313-1)_(690+1_691-1)del deletion Zheng (2014)
897 1197 57_11 t 6 c.1197C>G p.F399L missense Zheng (2014) 0.094
898 215 57_12 f 1 c.215T>G p.L72R missense Zheng (2014) 0.096
899 765 57_12 f 4 c.765T>A p.Y255* nonsense Zheng (2014)
900 499 57_13 f 2 c.499G>A p.G167R missense Zheng (2014) 0.232
901 1325 57_13 f 7 c.1325C>T p.T442M missense Zheng (2014) 0.001
902 1325 32_1 t 7 c.(690+1_691-1)_(898+1_899-1)del p.P231Ifs*38 gross_deletion Lin (2015)
903 430 17_1 t 2 c.430G>A p.G144R missense Isbrandt (1994) 0.251
904 574 17_2 t 3 c.574T>C p.C192R missense Isbrandt (1994) 0.035
905 1072 17_2 t 5 c.1072G>A p.V358M missense Isbrandt (1994) 0.001
906 962 17_3 t 5 c.962T>C p.L321P missense Isbrandt (1994) 0.029
907 1072 17_3 t 5 c.1072G>A p.V358M missense Isbrandt (1994) 0.001
908 1562 17_4 f 8 c.1562G>A p.C521Y missense Isbrandt (1994) 0.097
909 1286 17_5 t 7 c.1286dup p.H430Pfs*5 small_insertion Isbrandt (1994)
910 1126 17_5 t 5 c.1126G>A p.V376M missense Isbrandt (1994) 0.030
911 1577 17_6 t 8 c.1577delC p.T526Mfs*48 small_deletion Isbrandt (1994)
912 215 18_1 f 1 c.215T>A p.L72Q missense Isbrandt (1996) 0.026
913 743 18_1 f 4 c.743delC p.P248Lfs*5 small_deletion Isbrandt (1996)
914 219 18_1 f 1 c.219_230del12insG small_indel Isbrandt (1996)
915 215 58_1 f 1 c.215T>C p.L72P missense Jurecka (2014)_2 0.044
916 275 58_2 f 1 c.275C>A p.T92K missense Jurecka (2014)_2 0.125
917 479 58_3 f 2 c.479G>A p.R160Q missense Jurecka (2014)_2 0.107
918 797 58_4 f 4 c.797A>C p.Y266S missense Jurecka (2014)_2 0.035
919 478 58_5 f 2 c.478C>T p.R160* nonsense Jurecka (2014)_2
920 943 58_6 f 5 c.943C>T p.R315* nonsense Jurecka (2014)_2
921 1539 58_7 f 8 c.1539C>G p.Y513* nonsense Jurecka (2014)_2
922 750 58_8 f 4 c.750_754delinsCCTGAAGTCAAG p.E250Dfs*9 small_indel Jurecka (2014)_2
923 454 58_9 f 2 c.454C>T p.R152W missense Jurecka (2014)_2 0.053
924 171 58_10 f 1 c.171G>C p.W57C missense Jurecka (2014)_2 0.001
925 272 58_11 f 1 c.272G>A p.C91Y missense Jurecka (2014)_2 0.052
926 499 58_12 f 2 c.499G>A p.G167R missense Jurecka (2014)_2 0.232
927 904 58_13 f 5 c.904G>A p.G302R missense Jurecka (2014)_2 0.114
928 1562 58_14 f 8 c.1562G>A p.C521Y missense Jurecka (2014)_2 0.097
929 262 58_15 f 1 c.262C>T p.Q88* nonsense Jurecka (2014)_2
930 289 58_16 f 1 c.289C>T p.Q97* nonsense Jurecka (2014)_2
931 943 58_17 f 5 c.943C>T p.R315* nonsense Jurecka (2014)_2
932 375 58_18 f 2 c.375_376insT small_insertion Jurecka (2014)_2
933 263 58_19 f 1 c.263dup p.P89Afs*38 small_insertion Jurecka (2014)_2
934 247 58_20 f 1 c.247_248del p.D83Qfs*43 deletion Jurecka (2014)_2
935 454 58_21 f 2 c.454C>T p.R152W missense Jurecka (2014)_2 0.053
936 479 58_22 f 2 c.479G>A p.R160Q missense Jurecka (2014)_2 0.107
937 1079 58_23 f 5 c.1079T>C p.L360P missense Jurecka (2014)_2 0.037
938 629 58_24 f 3 c.629A>G p.Y210C missense Jurecka (2014)_2 0.022
939 236 33_1 t 1 c.236delG small_deletion Litjens (1992)
940 1072 33_1 t 5 c.1072G>A p.V358M missense Litjens (1992) 0.001
941 1191 33_1 t 6 c.1191A>G p.P397P synonimous Litjens (1992)
942 1533 38_1 t 8 c.1533_1555del23 gross_deletion Petry (2003)
943 629 41_1 f 3 c.629A>G p.Y210C missense Sandberg (2008) 0.022
944 207 41_1 f 1 c.207_213dup p.L72Afs*57 small_insertion Sandberg (2008)
945 629 41_2 f 3 c.629A>G p.Y210C missense Sandberg (2008) 0.022
946 635 41_2 f 3 c.635C>T p.T212I missense Sandberg (2008) 0.057
947 765 30_1 f 4 c.765C>G p.Y255* nonsense Lam (2004)
948 1197 30_1 f 6 c.1197C>G p.F399L missense Lam (2004) 0.094
949 943 47_1 t 5 c.943C>T p.R315* nonsense Villani (2010)
950 899 47_1 f 5 c.899_1142del p.D300Vfs*193 deletion Villani (2010)
951 899 47_1 f 5 gross_deletion Villani (2010)
952 1151 50_1 ND 6 c.1151G>A p.S384N missense Voskoboeva (2000)_2 0.023
953 943 50_2 ND 5 c.943C>T p.R315* nonsense Voskoboeva (2000)_2
954 1539 50_2 ND 8 c.1539C>G p.Y513* nonsense Voskoboeva (2000)_2
955 245 50_3 ND 1 c.245delT P.L82Rfs*32 small_deletion Voskoboeva (2000)_2
956 293 50_3 ND 1 c.293T>C p.L98P missense Voskoboeva (2000)_2 0.122
957 1072 50_3 ND 5 c.1072G>A p.V358M missense Voskoboeva (2000)_2 0.001
958 1126 50_3 ND 5 c.1126G>A p.V376M missense Voskoboeva (2000)_2 0.030
959 237 50_4 ND 1 c.237_243delGGTGCTC p.V80Wfs32 small_deletion Voskoboeva (2000)_2
960 454 50_4 ND 2 c.454C>T p.R152W missense Voskoboeva (2000)_2 0.053
961 478 50_5 ND 2 c.478C>T p.R160* nonsense Voskoboeva (2000)_2
962 479 50_5 ND 2 c.479G>A p.R160Q missense Voskoboeva (2000)_2 0.107
963 454 50_6 ND 2 c.454C>T p.R152W missense Voskoboeva (2000)_2 0.053
964 1562 50_6 ND 8 c.1562G>A p.C521Y missense Voskoboeva (2000)_2 0.097
965 1072 50_6 ND 5 c.1072G>A p.V358M missense Voskoboeva (2000)_2 0.001
966 1126 50_6 ND 5 c.1126G>A p.V376M missense Voskoboeva (2000)_2 0.030
967 960 50_7 ND 5 c.960C>G p.S320R missense Voskoboeva (2000)_2 0.254
968 438 50_8 ND 2 c.438G>A p.W146* nonsense Voskoboeva (2000)_2
969 629 50_8 ND 3 c.629A>G p.Y210C missense Voskoboeva (2000)_2 0.022
970 454 50_9 ND 2 c.454C>T p.R152W missense Voskoboeva (2000)_2 0.053
971 1562 50_9 ND 8 c.1562G>A p.C521Y missense Voskoboeva (2000)_2 0.097
972 1072 50_9 ND 5 c.1072G>A p.V358M missense Voskoboeva (2000)_2 0.001
973 1126 50_9 ND 5 c.1126G>A p.V376M missense Voskoboeva (2000)_2 0.030
974 454 50_10 ND 2 c.454C>T p.R152W missense Voskoboeva (2000)_2 0.053
975 1079 50_10 ND 5 c.1079T>C p.L360P missense Voskoboeva (2000)_2 0.037
976 1151 50_10 ND 6 c.1151G>A p.S384N missense Voskoboeva (2000)_2 0.023
977 1072 50_10 ND 5 c.1072G>A p.V358M missense Voskoboeva (2000)_2 0.001
978 1197 55_1 f 6 c.1197C>G p.F399L missense Yang (2001) 0.094
979 716 55_1 f 4 c.716A>G p.Q239R missense Yang (2001) 0.084
980 574 55_2 f 3 c.574T>C p.C192R missense Yang (2001) 0.035
981 1072 55_2 f 5 c.1072G>A p.V358M missense Yang (2001) 0.001
982 426 43_1 f 2 c.426G>C p.M142I missense Simonaro (1995) 0.024
983 437 43_2 f 2 c.437G>C p.W146S missense Simonaro (1995) 0.069
984 437 43_3 f 2 c.437G>T p.W146L missense Simonaro (1995) 0.047
985 436 43_4 f 2 c.436T>C p.W146R missense Simonaro (1995) 0.078
986 437 43_4 f 2 c.437G>C p.W146S missense Simonaro (1995) 0.069
987 937 5_1 f 5 c.937C>G p.P313A missense Brooks (2005) 0.000
988 1442 5_1 f 8 c.1442C>T p.P481L missense Brooks (2005) 0.036
989 1072 5_1 f 5 c.1072G>A p.V358M missense Brooks (2005) 0.001
990 899 5_1 f IVS c.899-27A>C splicing Brooks (2005)
991 750 21_1 t 4 c.750_754delinsCCTGAAG p.E250Dfs*4 small_indel Jurecka (2011)
992 1151 21_1 t 6 c.1151G>A p.S384N missense Jurecka (2011) 0.023
993 629 21_2 f 3 c.629A>G p.Y210C missense Jurecka (2011) 0.022
994 262 21_3 f 1 c.262C>T p.Q88* nonsense Jurecka (2011)
995 454 21_3 f 2 c.454C>T p.R152W missense Jurecka (2011) 0.053
996 454 21_4 t 2 c.454C>T p.R152W missense Jurecka (2011) 0.053
997 904 45_1 t 5 c.904G>A p.G302R missense Villani (1997) 0.114
998 1366 45_2 t 8 c.1366C>T p.Q456* nonsense Villani (1997)
999 1072 45_2 t 5 c.1072G>A p.V358M missense Villani (1997) 0.001
1000 478 48_1 f 2 c.478C>T p.R160* nonsense Voskoboeva (1994)
1001 479 48_1 f 2 c.479G>A p.R160Q missense Voskoboeva (1994) 0.107
1002 237 48_2 f 1 c.237_243delGGTGCTC p.V80Wfs32 small_deletion Voskoboeva (1994)
1003 454 48_2 f 2 c.454C>T p.R152W missense Voskoboeva (1994) 0.053
1004 410 54_1 ND 2 c.410G>T p.G137V missense Xu (1996) 0.008
1005 238 54_2 ND 1 c.238delG p.V80Cfs*34 small_deletion Xu (1996)
1006 349 54_3 ND 2 c.349T>C p.C117R missense Xu (1996) 0.247
1007 707 54_4 ND 4 c.707T>C p.L236P missense Xu (1996) 0.023
1008 1214 54_5 ND 7 c.1214G>A p.C405Y missense Xu (1996) 0.118
1009 427 54_6 ND 2 c.427delG p.V143Sfs*41 gross_deletion Xu (1996)
1010 1600 54_7 ND >8 c.1600T>C p.*534Qnext*50 missense Xu (1996)
1011 478 54_8 ND 2 c.478C>T p.R160* nonsense Xu (1996)
1012 479 54_9 ND 2 c.479G>A p.R160Q missense Xu (1996) 0.107
1013 237 54_10 ND 1 c.237_243delGGTGCTC p.V80Wfs32 small_deletion Xu (1996)
1014 454 54_11 ND 2 c.454C>T p.R152W missense Xu (1996) 0.053
1015 430 54_12 ND 2 c.430G>A p.G144R missense Xu (1996) 0.251
1016 574 54_13 ND 3 c.574T>C p.C192R missense Xu (1996) 0.035
1017 962 54_14 ND 5 c.962T>C p.L321P missense Xu (1996) 0.029
1018 1562 54_15 ND 8 c.1562G>A p.C521Y missense Xu (1996) 0.097
1019 1285 54_16 ND 7 c.1285insT small_insertion Xu (1996)
1020 1577 54_17 ND 8 c.1577delC p.T526Mfs*48 small_deletion Xu (1996)
1021 1261 54_18 ND 7 c.1261G>T p.E421* nonsense Xu (1996)
1022 1336 6_1 t 7 c.1336+2T>G splicing Chistiakov (2014)
1023 962 6_2 t 5 c.962T>C p.L321P missense Chistiakov (2014) 0.029
1024 629 6_3 f 3 c.629A>G p.Y210C missense Chistiakov (2014) 0.022
1025 785 6_3 f 4 c.785dup p.A261Lfs*14 small_insertion Chistiakov (2014)
1026 1072 6_3 f 5 c.1072G>A p.V358M missense Chistiakov (2014) 0.001
1027 430 6_4 f 2 c.430G>A p.G144R missense Chistiakov (2014) 0.251
1028 1151 6_4 f 6 c.1151G>A p.S384N missense Chistiakov (2014) 0.023
1029 430 6_5 f 2 c.430G>A p.G144R missense Chistiakov (2014) 0.251
1030 328 6_5 f 2 c.328C>T p.Q110* nonsense Chistiakov (2014)
1031 454 6_6 f 2 c.454C>T p.R152W missense Chistiakov (2014) 0.053
1032 943 6_6 f 5 c.943C>T p.R315* nonsense Chistiakov (2014)
1033 454 6_7 f 2 c.454C>T p.R152W missense Chistiakov (2014) 0.053
1034 262 6_7 f 1 c.262C>T p.Q88* nonsense Chistiakov (2014)
1035 454 6_8 f 2 c.454C>T p.R152W missense Chistiakov (2014) 0.053
1036 262 6_8 f 1 c.262C>T p.Q88* nonsense Chistiakov (2014)
1037 1072 6_9 t 5 c.1072G>A p.V358M missense Chistiakov (2014) 0.001
1038 943 6_10 t 5 c.943C>T p.R315* nonsense Chistiakov (2014)
1039 427 11_1 t 2 c.427delG p.V143Sfs*41 small_deletion Fern_ndez-Marmiesse (2014)
1040 382 11_2 t 2 c.382_384delCTC p.L128del deletion Fern_ndez-Marmiesse (2014)
1041 312 59_1 f 1 c.312G>C p.Q104H missense Thumler (2012) 0.044
1042 454 59_1 f 2 c.454C>T p.R152W missense Thumler (2012) 0.053
1043 454 59_2 t 2 c.454C>T p.R152W missense Thumler (2012) 0.053
1044 478 59_3 f 2 c.478C>T p.R160* nonsense Thumler (2012)
1045 629 59_3 f 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1046 478 59_4 f 2 c.478C>T p.R160* nonsense Thumler (2012)
1047 629 59_4 f 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1048 574 59_5 t 3 c.574T>C p.C192R missense Thumler (2012) 0.035
1049 438 59_6 f 2 c.438G>A p.W146* nonsense Thumler (2012)
1050 629 59_6 f 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1051 629 59_7 na 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1052 629 59_8 na 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1053 629 59_9 na 3 c.629A>G p.Y210C missense Thumler (2012) 0.022
1054 629 60_1 f 3 c.629A>G p.Y210C missense Bradford (2002) 0.022
1055 1178 60_1 f 6 c.1178A>C p.H393P missense Bradford (2002) 0.043
1056 284 60_2 f 1 c.284G>A p.R95Q missense Bradford (2002) 0.119
1057 629 60_2 f 3 c.629A>G p.Y210C missense Bradford (2002) 0.022
1058 284 60_3 f 1 c.284G>A p.R95Q missense Bradford (2002) 0.119
1059 629 60_3 f 3 c.629A>G p.Y210C missense Bradford (2002) 0.022
1060 629 60_4 na 3 c.629A>G p.Y210C missense Bradford (2002) 0.022
1061 629 60_5 na 3 c.629A>G p.Y210C missense Bradford (2002) 0.022
1062 149 60_1 f 1 c.149T>A p.L50* nonsense Garcia(2010)
1063 176 61_1 t 1 c.176A>T p.D59V missense Debiec(2014)
1064 206 62_1 1 c.206C>T p.T69M missense McGill(2010)
1065 236 63_1 1 c.236G>A p.G79E missense Kilic(2017)
1066 270 64_1 1 c.270_274del5 p.C91Afs*34 deletion Al-Sannaa(2018)
1067 313 65_1 2 c.313-7412_690+1601del deletion Ittiwut(2017)
1068 464 65_? c.464G>A p.C155Y missense Ittiwut(2017)
1069 1048 66_1 5 c.1048A>T p.I350F missense Uttarilli(2017)
1070 1115 67_1 5 c.1115A>G p.D372G missense But(2011)
1071 1163 65_? 6 c.1163G>C p.R388T missense Ittiwut(2017)
1072 219 18_? 1 c.219del p.D73Efs*41 small_deletion Isbrandt (1996)
1073 223 18_? 1 c.223_232del p.L75Afs*36 small_deletion Isbrandt (1996)
1074 630 28_? 3 c.630_636del p.Y210* small_deletion Karageorgos (2007)