Variant information



Systematic Name c.916C>T
Protein name p.Arg306Cys
Mutation type Missense
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 25
2 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 73
3 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 74
4 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 75
5 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 76
6 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 77
7 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 78
8 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 121
9 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 133
10 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 136
11 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 168
12 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 169
13 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 170
14 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 171
15 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 172
16 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 194
17 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 234
18 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 235
19 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 269
20 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 319
21 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 320
22 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 321
23 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 322
24 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 323
25 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 324
26 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 385
27 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 409
28 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 452
29 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 459
30 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 469
31 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 932
32 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 927
33 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 913
34 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 911
35 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 912
36 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 862
37 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 861
38 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 860
39 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 859
40 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 858
41 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 857
42 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 856
43 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1054
44 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1055
45 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1056
46 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1057
47 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1058
48 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1059
49 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1060
50 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1061
51 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 1178
52 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1209
53 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1231
54 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1232
55 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1304
56 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1305
57 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1306
58 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1401
59 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1402
60 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1454
61 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1483
62 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1520
63 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-classical 1554
64 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Rett synd. 1555
65 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1558
66 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1609
67 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1706
68 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1748
69 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1765
70 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1773
71 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1778
72 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1789
73 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1807
74 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1832
75 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1833
76 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1905
77 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1959
78 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1964
79 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2011
80 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2032
81 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2035
82 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2040
83 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2054
84 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2320
85 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2322
86 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2323
87 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2324
88 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2325
89 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2326
90 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2327
91 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2329
92 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2330
93 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2400
94 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2409
95 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 2413
96 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2432
97 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2437
98 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2467
99 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2488
100 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2616
101 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2617
102 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2618
103 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2619
104 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2620
105 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 2648
106 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2815
107 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2816
108 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2852
109 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2853
110 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 2875
111 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2876
112 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2877
113 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2878
114 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2902
115 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2903
116 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2945
117 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2946
118 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2947
119 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 2976
120 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3001
121 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3002
122 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3014
123 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3015
124 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3018
125 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3143
126 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3144
127 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3145
128 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3146
129 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3147
130 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3148
131 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3149
132 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3150
133 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3151
134 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3152
135 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3153
136 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3154
137 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3155
138 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3156
139 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3157
140 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3158
141 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3361
142 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3362
143 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3386
144 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3387
145 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3388
146 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-preserved speech 3389
147 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3453
148 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3454
149 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3455
150 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3456
151 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3457
152 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3458
153 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3459
154 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3460
155 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3461
156 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3560
157 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3561
158 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3562
159 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3563
160 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3679
161 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3680
162 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3681
163 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3682
164 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3683
165 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3684
166 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3685
167 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3797
168 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3806
169 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3873
170 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4066
171 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4088
172 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4089
173 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4122
174 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4123
175 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4124
176 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4125
177 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4126
178 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4127
179 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4128
180 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 5299
181 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4275
182 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Atypical 4276
183 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Atypical 4277
184 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4278
185 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4279
186 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4280
187 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4281
188 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4282
189 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4283
190 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4284
191 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4310
192 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4507
193 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4508
194 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4509
195 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4510
196 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4511
197 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4747
198 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4816
199 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4840
200 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4841
201 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4883
202 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4884
203 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4885
204 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 4886
205 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 4887
206 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4908
207 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4909
208 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4910
209 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4924
210 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 5047
211 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 5048
212 c.916C>T missense TRD Mutation associated with disease Female Rett syndrome-atypical 6876
213 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 6751
214 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6750
215 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 6749
216 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6384
217 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6383
218 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6382
219 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6381
220 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6380
221 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6379
222 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6378
223 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6377
224 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6376
225 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6374
226 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6375
227 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 6373
228 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6372
229 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6371
230 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6370
231 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6369
232 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6367
233 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6368
234 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6366
235 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6365
236 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6364
237 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6363
238 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6361
239 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6362
240 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6360
241 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6359
242 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6358
243 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6357
244 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6356
245 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6355
246 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6354