Variant information



Systematic Name c.502C>T
Protein name p.Arg168*
Mutation type nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 80
2 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 81
3 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 82
4 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 83
5 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 84
6 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 85
7 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 110
8 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 111
9 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 112
10 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 142
11 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 173
12 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 174
13 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 175
14 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 176
15 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 177
16 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 195
17 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 196
18 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 197
19 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 213
20 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 237
21 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 238
22 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 239
23 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 270
24 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 271
25 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 272
26 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 273
27 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 274
28 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 275
29 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 300
30 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 332
31 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 333
32 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 334
33 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 360
34 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 397
35 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 407
36 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 408
37 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 412
38 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 416
39 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 425
40 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 428
41 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 444
42 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 457
43 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 458
44 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 471
45 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 937
46 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 931
47 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 925
48 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 923
49 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 894
50 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 892
51 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 893
52 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 891
53 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 877
54 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 876
55 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 875
56 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1065
57 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1066
58 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1067
59 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1068
60 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1069
61 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1070
62 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1071
63 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1072
64 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1073
65 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1074
66 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1075
67 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1076
68 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1077
69 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1160
70 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1161
71 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1162
72 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1208
73 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1227
74 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1228
75 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1307
76 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1308
77 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1309
78 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1310
79 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1311
80 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1312
81 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1313
82 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1314
83 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1315
84 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1316
85 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1317
86 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1318
87 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1319
88 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1377
89 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1405
90 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1406
91 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1407
92 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1445
93 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1446
94 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1447
95 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1448
96 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1467
97 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1485
98 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1486
99 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1487
100 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1488
101 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1489
102 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1490
103 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1491
104 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1492
105 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Rett synd. 1493
106 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1601
107 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1604
108 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1642
109 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1656
110 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1660
111 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1664
112 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1667
113 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1676
114 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1683
115 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1691
116 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1692
117 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1696
118 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1697
119 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1710
120 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1714
121 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1720
122 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1761
123 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1796
124 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1800
125 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1821
126 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1861
127 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1889
128 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1890
129 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1925
130 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1937
131 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1949
132 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1954
133 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1955
134 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1960
135 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2017
136 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2022
137 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2036
138 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2227
139 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2228
140 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2229
141 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 2230
142 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2231
143 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 2232
144 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2233
145 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2234
146 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2235
147 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2236
148 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2237
149 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2238
150 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2239
151 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2240
152 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2241
153 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2242
154 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2243
155 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2244
156 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2245
157 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2247
158 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2248
159 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2249
160 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2250
161 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2251
162 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2252
163 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2253
164 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2254
165 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2255
166 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2256
167 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2257
168 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2258
169 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2259
170 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2260
171 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2261
172 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2262
173 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2404
174 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2406
175 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2420
176 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2422
177 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2427
178 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2441
179 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2454
180 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2458
181 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2462
182 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2463
183 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2469
184 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2474
185 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2485
186 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 2541
187 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2593
188 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2594
189 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2595
190 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2819
191 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2895
192 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2938
193 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2939
194 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-atypical 2964
195 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2978
196 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2979
197 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2980
198 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3003
199 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3004
200 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3013
201 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3040
202 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3051
203 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3052
204 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3053
205 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3054
206 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3171
207 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3172
208 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3173
209 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3174
210 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3175
211 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3176
212 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3177
213 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3178
214 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3179
215 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3180
216 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3181
217 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3182
218 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3183
219 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3184
220 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3185
221 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3186
222 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3187
223 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3188
224 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3189
225 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3190
226 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3191
227 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3192
228 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3193
229 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3194
230 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3195
231 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3196
232 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3197
233 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3354
234 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3367
235 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3368
236 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3369
237 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3406
238 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3407
239 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3463
240 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3464
241 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3465
242 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3466
243 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3467
244 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3468
245 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3469
246 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3470
247 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3471
248 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3472
249 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3473
250 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3474
251 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3475
252 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3476
253 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3477
254 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3567
255 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3568
256 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3569
257 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3570
258 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3571
259 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3572
260 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3573
261 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3574
262 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3575
263 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3576
264 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3577
265 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3578
266 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3688
267 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3689
268 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3690
269 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3691
270 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3692
271 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3693
272 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3694
273 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3695
274 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3696
275 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3697
276 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3698
277 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3699
278 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3700
279 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3701
280 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3702
281 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3703
282 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3704
283 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3791
284 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3815
285 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4067
286 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4140
287 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4141
288 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4142
289 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4143
290 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4144
291 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4251
292 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4252
293 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4253
294 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4254
295 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4255
296 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4256
297 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4257
298 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4258
299 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4259
300 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 4260
301 c.502C>T p.Arg168* nonsense MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 4305
302 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4371
303 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4372
304 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 4373
305 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4461
306 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4462
307 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4463
308 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4464
309 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4465
310 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4715
311 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4716
312 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4811
313 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4842
314 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4843
315 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4870
316 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4871
317 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4872
318 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4873
319 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5055
320 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5056
321 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5057
322 c.502C>T p.Arg168* nonsense Inter-domain region Mutation associated with disease Female Not Rett synd. 6737
323 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6501
324 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6500
325 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6499
326 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6498
327 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6497
328 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6496
329 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6495
330 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6494
331 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6493
332 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6492
333 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6491
334 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6490
335 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6489
336 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6488
337 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6487
338 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6486
339 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6485
340 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6484
341 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6483
342 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6482
343 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6481
344 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6480
345 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6479
346 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6478
347 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6477
348 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6476
349 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6475
350 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6474
351 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6473
352 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6472
353 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6471
354 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6470
355 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6469
356 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6468
357 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6467
358 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6466
359 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6465
360 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6464
361 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6463
362 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6462
363 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6461