Variant information



Systematic Name c.763C>T
Protein name p.Arg255*
Mutation type Nonsense
Domain TRD
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 27
2 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 86
3 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 87
4 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 88
5 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 89
6 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 90
7 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 91
8 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 92
9 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 113
10 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 114
11 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 115
12 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 198
13 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 199
14 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 200
15 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 214
16 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 215
17 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 216
18 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 240
19 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 241
20 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 242
21 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 243
22 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 244
23 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 245
24 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 277
25 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 278
26 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 303
27 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 304
28 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 305
29 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 306
30 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 307
31 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 336
32 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 337
33 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 356
34 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 357
35 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 421
36 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 427
37 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 462
38 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 477
39 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 480
40 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 481
41 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 948
42 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 935
43 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 898
44 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome- 899
45 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 896
46 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 897
47 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 895
48 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 871
49 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 870
50 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 869
51 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 842
52 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1080
53 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1081
54 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1082
55 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1083
56 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1084
57 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1085
58 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1086
59 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1087
60 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1088
61 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1089
62 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1090
63 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1091
64 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1146
65 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1147
66 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1169
67 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1198
68 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1207
69 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1213
70 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1220
71 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1322
72 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1323
73 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1324
74 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1325
75 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1326
76 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1327
77 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1328
78 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1329
79 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1330
80 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1331
81 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1408
82 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1409
83 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1450
84 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1451
85 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1469
86 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1470
87 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1471
88 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1472
89 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1473
90 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1494
91 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-classical 1510
92 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1511
93 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1512
94 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1513
95 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1514
96 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1591
97 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1602
98 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1605
99 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1608
100 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1623
101 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1730
102 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1733
103 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1739
104 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1747
105 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1750
106 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1753
107 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1759
108 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1769
109 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1786
110 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1797
111 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1803
112 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1804
113 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1854
114 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1892
115 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1893
116 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1920
117 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1921
118 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1922
119 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1936
120 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1938
121 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1944
122 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1962
123 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1963
124 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2018
125 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2020
126 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2031
127 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2034
128 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2042
129 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2263
130 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2264
131 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2265
132 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2266
133 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2267
134 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2268
135 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2269
136 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2270
137 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2271
138 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2272
139 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2273
140 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2274
141 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2275
142 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2276
143 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2277
144 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2278
145 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2279
146 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2280
147 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2281
148 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2282
149 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2283
150 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2284
151 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2285
152 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2286
153 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2398
154 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2402
155 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2412
156 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Congenital onset 2418
157 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Congenital onset 2426
158 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2431
159 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2433
160 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2434
161 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2446
162 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2459
163 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2465
164 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2473
165 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Forme fruste 2477
166 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2599
167 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2600
168 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2601
169 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2602
170 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2603
171 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 2769
172 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2821
173 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2822
174 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2860
175 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2879
176 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2897
177 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2898
178 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2899
179 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2940
180 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2965
181 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2966
182 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2967
183 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2981
184 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2982
185 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3005
186 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3041
187 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3042
188 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3061
189 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3201
190 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3202
191 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3203
192 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3204
193 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3205
194 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3206
195 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3207
196 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3208
197 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3209
198 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3210
199 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3211
200 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3212
201 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3213
202 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3214
203 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3215
204 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3216
205 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3370
206 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3371
207 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3372
208 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3373
209 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3479
210 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3480
211 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3481
212 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3482
213 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3483
214 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3484
215 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3485
216 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3486
217 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3487
218 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3488
219 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3489
220 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3490
221 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3491
222 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3579
223 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3580
224 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3581
225 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3582
226 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3583
227 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3706
228 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3707
229 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3708
230 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3709
231 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3710
232 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3711
233 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3712
234 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3713
235 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3714
236 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3715
237 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3716
238 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3805
239 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3813
240 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3814
241 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4145
242 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4146
243 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4147
244 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4148
245 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4261
246 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4262
247 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4263
248 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4264
249 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4265
250 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4307
251 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4377
252 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4378
253 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4379
254 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4380
255 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4381
256 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4482
257 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Rett synd. 4483
258 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4484
259 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4485
260 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4486
261 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4487
262 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4488
263 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4489
264 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4490
265 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4717
266 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4718
267 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4719
268 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4720
269 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4813
270 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4845
271 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 4846
272 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4875
273 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4876
274 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4912
275 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4925
276 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4926
277 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 5049
278 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 5050
279 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Rett synd. 5126
280 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6743
281 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6742
282 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6741
283 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6740
284 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6460
285 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6459
286 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6458
287 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6457
288 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6456
289 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6455
290 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6454
291 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6453
292 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-congenital 6452
293 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6451
294 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6408
295 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6407
296 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6405
297 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6406
298 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6404
299 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6403
300 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6402
301 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6401
302 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6400
303 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6399
304 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6398
305 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6397
306 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6396
307 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6394
308 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6395
309 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6393
310 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6392
311 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6391
312 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6390
313 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6388
314 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6389
315 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6387
316 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6386
317 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6385