Variant information



Systematic Name c.880C>T
Protein name p.Arg294*
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 101
2 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 102
3 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 119
4 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 148
5 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 181
6 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 182
7 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 183
8 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 184
9 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 203
10 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 204
11 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 249
12 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 250
13 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 251
14 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 252
15 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 282
16 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 283
17 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 314
18 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 315
19 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 316
20 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 317
21 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 343
22 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 344
23 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 345
24 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 346
25 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 378
26 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 387
27 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 388
28 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 393
29 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 403
30 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 410
31 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 420
32 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 478
33 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 947
34 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 945
35 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 926
36 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Forme fruste 909
37 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 907
38 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 908
39 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 905
40 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 906
41 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 904
42 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 874
43 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 873
44 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 872
45 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1100
46 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1101
47 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1102
48 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1103
49 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1104
50 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1105
51 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1106
52 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1166
53 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1167
54 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1168
55 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1211
56 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1229
57 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1230
58 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1260
59 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1261
60 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1341
61 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1342
62 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1343
63 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1344
64 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1345
65 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1346
66 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1347
67 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1348
68 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1349
69 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1350
70 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1351
71 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1352
72 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1353
73 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1354
74 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1378
75 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1418
76 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1419
77 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1420
78 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1453
79 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1519
80 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1689
81 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1690
82 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1694
83 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1701
84 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1718
85 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1728
86 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1731
87 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1760
88 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1784
89 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1785
90 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1791
91 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1840
92 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1901
93 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1902
94 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1928
95 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1934
96 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1953
97 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1956
98 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1958
99 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2048
100 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2052
101 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2064
102 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2308
103 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2309
104 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2310
105 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2311
106 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2312
107 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2313
108 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2314
109 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2315
110 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2316
111 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2317
112 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2318
113 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2319
114 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2397
115 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2403
116 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2445
117 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2449
118 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Male Rett syndrome-male variant 2550
119 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2611
120 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2612
121 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2613
122 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2614
123 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-preserved speech 2647
124 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2828
125 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2859
126 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2864
127 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2880
128 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2881
129 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2901
130 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 2911
131 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2944
132 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2970
133 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2984
134 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2985
135 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3006
136 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3016
137 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3017
138 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3044
139 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3045
140 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3059
141 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3060
142 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3235
143 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3236
144 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3237
145 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3238
146 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3239
147 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3240
148 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3241
149 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3242
150 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3243
151 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3244
152 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3245
153 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3246
154 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3247
155 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3248
156 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3249
157 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3250
158 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3251
159 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3252
160 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3363
161 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3364
162 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3365
163 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3403
164 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3404
165 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-preserved speech 3405
166 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3504
167 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3505
168 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3506
169 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3591
170 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3592
171 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3593
172 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3732
173 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3733
174 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3734
175 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3735
176 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3736
177 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3737
178 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3738
179 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3739
180 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3740
181 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3741
182 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3742
183 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4090
184 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4091
185 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4129
186 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4130
187 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4131
188 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4132
189 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4133
190 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4134
191 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4293
192 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4294
193 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4295
194 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4296
195 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4297
196 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4298
197 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4309
198 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4384
199 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4385
200 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4499
201 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4500
202 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4501
203 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4502
204 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4503
205 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4504
206 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4505
207 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4724
208 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4725
209 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4726
210 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4727
211 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4847
212 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4913
213 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4921
214 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4930
215 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 5130
216 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 5131
217 c.880C>T p.Arg294* Missense TRD Mutation associated with disease Female Not Known 6761
218 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6429
219 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6428
220 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 6427
221 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6426
222 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6425
223 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6424
224 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6423
225 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6422
226 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6421
227 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6420
228 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-forme fruste 6419
229 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6418
230 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6417
231 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6416
232 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6415
233 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6414
234 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6413
235 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6412
236 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6411
237 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 6410
238 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6409