Variant information



Systematic Name c.808C>T
Protein name p.Arg270*
Mutation type Nonsense
Domain TRD-NLS
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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 8
2 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 93
3 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 94
4 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 95
5 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 96
6 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 97
7 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 98
8 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 99
9 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 100
10 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 116
11 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 117
12 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 118
13 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 130
14 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 178
15 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 179
16 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 180
17 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 201
18 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 202
19 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 246
20 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 247
21 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 248
22 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 279
23 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 280
24 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 281
25 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 310
26 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 311
27 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 312
28 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 313
29 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 338
30 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 339
31 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 340
32 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 341
33 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 358
34 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 371
35 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 382
36 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 389
37 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 390
38 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 392
39 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 401
40 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 417
41 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 455
42 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 460
43 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 464
44 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 943
45 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 941
46 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 940
47 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 922
48 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 920
49 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 903
50 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Classical 901
51 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Classical 902
52 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1092
53 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1093
54 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1094
55 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1095
56 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1096
57 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1097
58 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1098
59 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1099
60 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Rett synd. 1149
61 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1156
62 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1157
63 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1158
64 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1159
65 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1216
66 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1253
67 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1332
68 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1333
69 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1334
70 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1335
71 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1336
72 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1337
73 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1338
74 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1339
75 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1340
76 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1410
77 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1411
78 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1412
79 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1413
80 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1414
81 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1415
82 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1416
83 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1417
84 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Male Rett syndrome-Male variant 1435
85 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1474
86 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1475
87 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1476
88 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1515
89 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1516
90 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1517
91 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1518
92 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1595
93 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1619
94 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1626
95 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1643
96 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1681
97 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1684
98 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1688
99 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1703
100 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1709
101 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1738
102 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1772
103 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1775
104 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1781
105 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1782
106 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1783
107 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1828
108 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1831
109 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1849
110 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1860
111 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1868
112 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1898
113 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 1957
114 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1968
115 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 2012
116 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2289
117 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2290
118 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2291
119 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2292
120 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2293
121 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2294
122 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2295
123 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2296
124 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2297
125 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2298
126 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2299
127 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2300
128 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2301
129 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2302
130 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2303
131 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2304
132 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2305
133 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2306
134 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2307
135 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2410
136 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2414
137 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2435
138 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2439
139 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Congenital onset 2443
140 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2451
141 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2452
142 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2456
143 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2471
144 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2479
145 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2481
146 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 2543
147 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2606
148 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2607
149 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2608
150 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2824
151 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2826
152 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2827
153 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2900
154 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2941
155 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2942
156 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2943
157 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 2969
158 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2983
159 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3043
160 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3055
161 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3056
162 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3057
163 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3058
164 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3217
165 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3218
166 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3219
167 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3220
168 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3221
169 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3222
170 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3223
171 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3224
172 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3225
173 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3226
174 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3227
175 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3228
176 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3229
177 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3230
178 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3231
179 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3232
180 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3233
181 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3234
182 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3360
183 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3400
184 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3401
185 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3402
186 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3492
187 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3493
188 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3494
189 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3495
190 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3496
191 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3497
192 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3498
193 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3499
194 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3500
195 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3501
196 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3502
197 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3503
198 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3584
199 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3585
200 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3586
201 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3587
202 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3588
203 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3589
204 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3590
205 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3717
206 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3718
207 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3719
208 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3720
209 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3721
210 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3722
211 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3723
212 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3724
213 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3725
214 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3726
215 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3727
216 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3728
217 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3729
218 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3730
219 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3731
220 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3795
221 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4068
222 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4069
223 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4149
224 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4150
225 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4151
226 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4266
227 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4267
228 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4268
229 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4269
230 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4270
231 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4271
232 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 4272
233 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4311
234 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4320
235 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4382
236 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4383
237 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4491
238 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4492
239 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4493
240 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4494
241 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4495
242 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4496
243 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4721
244 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4722
245 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4723
246 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4814
247 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4877
248 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4927
249 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4928
250 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4929
251 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5058
252 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 5128
253 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 5129
254 c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6746
255 c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Female Not Known 6745
256 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6450
257 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6449
258 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6448
259 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6447
260 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6446
261 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6445
262 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6444
263 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6443
264 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6441
265 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6442
266 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6440
267 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6439
268 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6438
269 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6437
270 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6436
271 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6435
272 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6434
273 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6432
274 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6433
275 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6431
276 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6430