Summary of MECP2 mutations:

By Frequency | Systematic Name | Protein change
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Summary by Protein change


No: Systematic Name Amino acid change Frequency Percentage
1 c.473C>T p.Thr158Met 419 8.72
2 c.502C>T p.Arg168* 365 7.59
3 c.763C>T p.Arg255* 313 6.51
4 c.808C>T p.Arg270* 276 5.74
5 c.916C>T p.Arg306Cys 245 5.1
6 c.880C>T p.Arg294* 237 4.93
7 c.397C>T p.Arg133Cys 217 4.52
8 c.-99+2_-99+3delTG intronic variant 192 4
9 c.*487G>C 3'UTR variation 174 3.62
10 c.316C>T p.Arg106Trp 132 2.75
11 c.1157_1197del41 p.Leu386fs 106 2.21
12 c.455C>G p.Pro152Arg 71 1.48
13 c.806delG p.Gly269fs 63 1.31
14 c.27-6C>G p.Arg9fs 61 1.27
15 c.-138_-134dup p.(=) 49 1.02
16 c.1164_1207del44 p.Pro389* 47 0.98
17 c.1189G>A p.Glu397Lys 46 0.96
18 c.-168-?_26+?del p.Met1? 38 0.79
19 c.897C>T p.Thr299Thr 38 0.79
20 c.582C>T p.Ser194Ser 38 0.79
21 c.1233C>T p.Ser411Ser 30 0.62
22 c.602C>T p.Ala201Val 29 0.6
23 c.419C>T p.Ala140Val 28 0.58
24 c.1160_1185del26 p.Pro387fs 24 0.5
25 c.401C>G p.Ser134Cys 21 0.44
26 c.317G>A p.Arg106Gln 21 0.44
27 c.1163_1197del35 p.Pro388fs 21 0.44
28 c.808delC p.Arg270fs 20 0.42
29 c.674C>G p.Pro225Arg 20 0.42
30 c.917G>A p.Arg306His 19 0.4
31 c.695G>C p.Gly232Ala 17 0.35
32 c.423C>G p.Tyr141* 17 0.35
33 c.1126C>T p.Pro376Ser 17 0.35
34 c.375delC p.Asn126fs 17 0.35
35 c.-116_-114dupAGG p.(=) 16 0.33
36 c.905C>G p.Pro302Arg 15 0.31
37 c.753dupC p.Gly252fs 15 0.31
38 c.468C>G p.Asp156Glu 15 0.31
39 c.608C>T p.Thr203Met 14 0.29
40 c.587C>G p.Thr196Ser 14 0.29
41 c.1168_1173del6 p.Pro390_Pro391del 13 0.27
42 c.590C>T p.Thr197Met 13 0.27
43 c.710delG p.Gly237fs 13 0.27
44 c.1336-?_*?del p.? 13 0.27
45 c.1035A>G p.Lys345Lys 13 0.27
46 c.1153_1190del38 p.Pro385fs 13 0.27
47 c.-15C>T 5'UTR variation 12 0.25
48 c.1330G>A p.Ala444Thr 12 0.25
49 c.856_859delAAAG p.Lys286fs 11 0.23
50 c.-143_-138dup p.(=) 11 0.23
51 c.1335G>A p.Thr445Thr 10 0.21
52 c.819G>T p.Gly273Gly 10 0.21
53 c.-160A>T p.(=) 10 0.21
54 c.965C>T p.Pro322Leu 9 0.19
55 c.964C>G p.Pro322Ala 8 0.17
56 c.815C>T p.Pro272Leu 8 0.17
57 c.403A>G p.Lys135Glu 8 0.17
58 c.398G>A p.Arg133His 8 0.17
59 c.-114_-104del11 p.(=) 8 0.17
60 c.710dupG p.Gly238fs 8 0.17
61 c.984C>T p.Leu328Leu 8 0.17
62 c.1197C>T p.Pro399Pro 8 0.17
63 c.1164_1206del43 p.Pro389fs 8 0.17
64 c.375C>A p.Ile125Ile 7 0.15
65 c.1075T>C p.Ser359Pro 7 0.15
66 c.426C>T p.Phe142Phe 7 0.15
67 c.611C>G p.Ser204* 7 0.15
68 c.508C>T p.Gln170* 7 0.15
69 c.1127_1179del53 p.Pro376fs 7 0.15
70 c.1315G>A p.Ala439Thr 7 0.15
71 c.298C>G p.Leu100Val 7 0.15
72 c.527C>G p.Pro176Arg 7 0.15
73 c.834C>T p.Ala278Ala 7 0.15
74 c.1282G>A p.Gly428Ser 7 0.15
75 c.696delC p.Lys233fs 7 0.15
76 c.683C>G p.Thr228Ser 7 0.15
77 c.1216C>T p.Gln406* 6 0.12
78 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs 6 0.12
79 c.686C>T p.Ser229Leu 6 0.12
80 c.905C>T p.Pro302Leu 6 0.12
81 c.777C>T p.Ala259Ala 6 0.12
82 c.302C>G p.Pro101Arg 5 0.1
83 c.316C>G p.Arg106Gly 5 0.1
84 c.380C>T p.Pro127Leu 5 0.1
85 c.1072G>A p.Ala358Thr 5 0.1
86 c.1288C>T p.Pro430Ser 5 0.1
87 c.1339G>A p.Ala447Thr 5 0.1
88 c.1161_1400del240 p.Pro388_Pro467del 5 0.1
89 c.401C>T p.Ser134Phe 5 0.1
90 c.422A>G p.Tyr141Cys 5 0.1
91 c.146C>A p.Ser49* 5 0.1
92 c.1206C>T p.Pro402Pro 5 0.1
93 c.843C>T p.Ala281Ala 5 0.1
94 c.499C>T p.Arg167Trp 5 0.1
95 c.1205C>T p.Pro402Leu 5 0.1
96 c.518C>G p.Pro173Arg 5 0.1
97 c.1133C>T p.Ala378Val 5 0.1
98 c.695delG p.Gly232fs 5 0.1
99 c.1234G>A p.Val412Ile 5 0.1
100 c.925C>T p.Arg309Trp 5 0.1
101 c.1266C>T p.Gly422Gly 4 0.08
102 c.1101_1201del101 p.His367fs 4 0.08
103 c.763C>T p.Arg255* 4 0.08
104 c.1202G>A p.Ser401Asn 4 0.08
105 c.[1197_1237inv; 1238_1266del] p.Thr400fs 4 0.08
106 c.720C>T p.Thr240Thr 4 0.08
107 c.393C>G p.Ala131Ala 4 0.08
108 c.1214C>T p.Pro405Leu 4 0.08
109 c.898_1099del202 p.Val300fs 4 0.08
110 c.289G>T p.Asp97Tyr 4 0.08
111 c.210C>T p.Ser70Ser 4 0.08
112 c.1180G>A p.Glu394Lys 4 0.08
113 c.914A>G p.Lys305Arg 4 0.08
114 c.1194_1195insT p.Pro399fs 4 0.08
115 c.1129_1193del65 p.Lys377fs 4 0.08
116 c.730C>T p.Gln244* 4 0.08
117 c.840C>T p.Ala280Ala 4 0.08
118 c.932C>T p.Thr311Met 4 0.08
119 c.748dupC p.Arg250fs 4 0.08
120 c.904C>G p.Pro302Ala 4 0.08
121 c.1164_1207del44 p.Proro389* 4 0.08
122 c.1326C>T p.Thr442Thr 4 0.08
123 c.301C>T p.Pro101Ser 4 0.08
124 c.1196C>T p.Pro399Leu 4 0.08
125 c.-156C>T p.(=) 4 0.08
126 c.1081C>G p.Pro361Ala 4 0.08
127 c.1150_1192del43 p.Pro384fs 4 0.08
128 c.1116_1201del86 p.His372fs 4 0.08
129 c.756_759delCAGG p.Arg253fs 4 0.08
130 c.471C>G p.Phe157Leu 3 0.06
131 c.948C>G p.Val316Val 3 0.06
132 c.1454_1457del4 p.Val485fs 3 0.06
133 c.830delC p.Ala277fs 3 0.06
134 c.666C>G p.Val222Val 3 0.06
135 c.1436C>T p.Thr479Met 3 0.06
136 c.898G>A p.Val300Ile 3 0.06
137 c.1151C>T p.Pro384Leu 3 0.06
138 c.633G>C p.Arg211Ser 3 0.06
139 c.677_678insA p.Phe226fs 3 0.06
140 c.117dupA p.Glu40fs 3 0.06
141 c.1030C>T p.Arg344Trp 3 0.06
142 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer 3 0.06
143 c.365T>C p.Val122Ala 3 0.06
144 c.1142_1227del86 p.Pro381fs 3 0.06
145 c.1163C>T p.Pro388Leu 3 0.06
146 c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? 3 0.06
147 c.567dupA p.Arg190fs 3 0.06
148 c.1250A>T p.Lys417Met 3 0.06
149 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] 3 0.06
150 c.1438C>T p.Pro480Ser 3 0.06
151 c.905C>A p.Pro302His 3 0.06
152 uncertain p.Ile314Ile 3 0.06
153 c.168C>T p.Pro56Pro 3 0.06
154 c.1135_1142delCCCGTGCC p.Pro379fs 3 0.06
155 c.1215C>T p.Pro405Pro 3 0.06
156 c.474G>A p.Thr158Thr 3 0.06
157 c.836C>T p.Ala279Val 3 0.06
158 c.1105delC p.His369fs 3 0.06
159 c.750C>T p.Arg250Arg 3 0.06
160 c.372G>C p.Leu124Phe 3 0.06
161 c.483delG p.Arg162fs 3 0.06
162 c.1430G>C p.Ser477Thr 3 0.06
163 c.753C>T p.Pro251Pro 3 0.06
164 c.1156_1197del42 p.Leu386_Pro399del 3 0.06
165 c.469T>A p.Phe157Ile 3 0.06
166 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] 3 0.06
167 c.1441G>A p.Val481Met 2 0.04
168 c.1141C>G p.Pro381Ala 2 0.04
169 c.1162_1179del18 p.Pro388_Pro393del 2 0.04
170 c.864dupG p.Lys289fs 2 0.04
171 c.430A>T p.Lys144* 2 0.04
172 c.880_884del5 p.Arg294fs 2 0.04
173 c.515C>T p.Pro172Leu 2 0.04
174 c.153C>G p.His51Gln 2 0.04
175 c.1087A>T p.Lys363* 2 0.04
176 c.107_113del7 p.Lys36fs 2 0.04
177 c.1121_1191del71 p.Glu374fs 2 0.04
178 c.1167_1200del34 p.Pro390fs 2 0.04
179 c.479C>G p.Thr160Ser 2 0.04
180 c.598A>T p.Lys200* 2 0.04
181 c.1324_1364del41 p.Thr442fs 2 0.04
182 c.849_1236del388 p.Lys284fs 2 0.04
183 c.55C>T p.Gln19* 2 0.04
184 c.1189G>A p.Glu397Lys 2 0.04
185 c.1327G>A p.Ala443Thr 2 0.04
186 c.547G>C p.Gly183Arg 2 0.04
187 c.1239C>T p.Cys413Cys 2 0.04
188 c.1071C>T p.Ser357Ser 2 0.04
189 c.64A>T p.Lys22* 2 0.04
190 c.784C>T p.Gln262* 2 0.04
191 c.386G>T p.Gly129Val 2 0.04
192 c.464T>C p.Phe155Ser 2 0.04
193 c.482G>T p.Gly161Val 2 0.04
194 c.889C>T p.Gln297* 2 0.04
195 c.464T>G p.Phe155Cys 2 0.04
196 c.542C>T p.Ala181Val 2 0.04
197 c.215dupC p.Ala73fs 2 0.04
198 c.674C>T p.Pro225Leu 2 0.04
199 c.1156_1172del17 p.Leu386* 2 0.04
200 c.194C>G p.Ser65* 2 0.04
201 c.992A>G p.Lys331Arg 2 0.04
202 c.749G>A p.Arg250His 2 0.04
203 c.736_737insAT p.Met246fs 2 0.04
204 c.1057_1219del163 p.Gly353fs 2 0.04
205 c.994_1346del353 p.Ser332fs 2 0.04
206 c.108_111delAGAA p.Glu37fs 2 0.04
207 c.1200dupC p.Ser401fs 2 0.04
208 c.1162_1191del30 p.Pro388_Glu397del 2 0.04
209 c.764_765ins8 p.Arg255fs 2 0.04
210 c.592A>T p.Arg198* 2 0.04
211 Not known p.Ser373* 2 0.04
212 c.996C>T p.Ser332Ser 2 0.04
213 c.985G>A p.Gly329Ser 2 0.04
214 c.1308_1309delTC p.Gln437fs 2 0.04
215 c.1162C>T p.Pro388Ser 2 0.04
216 c.392C>A p.Ala131Asp 2 0.04
217 c.1233_1243del11 p.Ser411fs 2 0.04
218 c.480_481delTG p.Gly161fs 2 0.04
219 c.1160_1180del21 p.Pro387_Glu394delinsGln 2 0.04
220 c.1164_1208del45 p.Pro389_Pro403del 2 0.04
221 c.1161C>T p.Pro387Pro 2 0.04
222 c.812_818del7 p.Lys271fs 2 0.04
223 c.452A>G p.Asp151Gly 2 0.04
224 c.1372C>T p.Arg458Cys 2 0.04
225 c.46C>T p.Gln16* 2 0.04
226 c.1145_1194del50 p.Leu382fs 2 0.04
227 c.964C>T p.Pro322Ser 2 0.04
228 c.909C>G p.Ile303Met 2 0.04
229 c.747_751dup5 p.Pro251fs 2 0.04
230 c.203C>G p.Ser68* 2 0.04
231 c.1012_1202del191 p.Thr338fs 2 0.04
232 c.454C>G p.Pro152Ala 2 0.04
233 c.76delC p.Leu26fs 2 0.04
234 c.1157_1197del41 p.Leu386Hisfs*5 2 0.04
235 c.651_652delTG p.Gly218fs 2 0.04
236 c.1096_1201del106 p.His366fs 2 0.04
237 c.1330G>A p.Ala444Thr 2 0.04
238 c.910A>G p.Lys304Glu 2 0.04
239 c.100_103delGATA p.Asp34fs 2 0.04
240 c.488_489delGG p.Gly163fs 2 0.04
241 c.1132_1202del71 p.Ala378fs 2 0.04
242 c.467A>G p.Asp156Gly 2 0.04
243 c.1133C>G p.Ala378Gly 2 0.04
244 c.472A>G p.Thr158Ala 2 0.04
245 c.953A>C p.Glu318Ala 2 0.04
246 c.291C>A p.Asp97Glu 2 0.04
247 c.1132G>T p.Ala378Ser 2 0.04
248 c.613G>T p.Glu205* 2 0.04
249 c.514C>T p.Pro172Ser 2 0.04
250 c.36G>C p.Lys12Asn 2 0.04
251 c.[1053_1054ins10; 1145_1199del55] p.Lys352fs 2 0.04
252 c.808C>T p.Arg270* 2 0.04
253 c.382C>T p.Gln128* 2 0.04
254 c.1357C>T p.Arg453* 2 0.04
255 c.-146_-138del9 p.(=) 2 0.04
256 c.-146_-138dup9 p.(=) 2 0.04
257 c.881G>C p.Arg294Pro 2 0.04
258 c.690A>C p.Pro230Pro 2 0.04
259 c.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 2 0.04
260 c.229_238del10 p.Ala77fs 2 0.04
261 c.397C>G p.Arg133Gly 2 0.04
262 c.167_168delCC p.Pro56fs 2 0.04
263 c.398G>C p.Arg133Pro 1 0.02
264 c.-114_-104dup11 p.(=) 1 0.02
265 c.1159_1160ins300 p.Pro387_Pro388ins100 1 0.02
266 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] 1 0.02
267 c.-143_-138del6 p.(=) 1 0.02
268 c.1164_1172del9 p.Pro389_Pro391del 1 0.02
269 c.1043_1173del131insTG p.Glu348_Pro391delinsVal 1 0.02
270 c.1156_1200del45 p.Leu386_Thr400del 1 0.02
271 c.-116_-114dup p.(=) 1 0.02
272 c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] 1 0.02
273 c.871_1044del p.Ile293_Ser350del 1 0.02
274 c.906C>G p.Pro302Pro 1 0.02
275 c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] 1 0.02
276 c.1163_1201del39 p.Pro388_Ser401delinsArg 1 0.02
277 c.411delG p.Glu137fs 1 0.02
278 c.1104_1106del3 p.His372del 1 0.02
279 c.1320dupT p.Ala441fs 1 0.02
280 c.-113_-106del8 p.(=) 1 0.02
281 c.383A>C p.Gln128Pro 1 0.02
282 c.[1233C>T(;)1460G>T] p.[Ser411Ser(;)*487Leuext*27] 1 0.02
283 c.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] 1 0.02
284 c.[401C>G;1168_1173del6] p.[Ser134Cys;Pro390_Pro391del] 1 0.02
285 c.603G>A p.Ala201Ala 1 0.02
286 c.1338_1354del p.Ala447fs 1 0.02
287 c.1061_1156del96 p.Arg352_Pro385del 1 0.02
288 c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] 1 0.02
289 c.538A>T p.Lys180* 1 0.02
290 c.834_939del106 p.Ala279fs 1 0.02
291 c.1114C>T p.His372Tyr 1 0.02
292 c.1065C>A p.Ser355Arg 1 0.02
293 c.-112G>A p.(=) 1 0.02
294 c.1446C>T p.Thr482Thr 1 0.02
295 c.1455_1456dupTA p.Ser486fs 1 0.02
296 c.1039_1195del157insGT p.Lys347fs 1 0.02
297 c.602C>T p.(Ala201Val) 1 0.02
298 c.913A>G p.Lys305Glu 1 0.02
299 c.1028_1158del p.Gly343Alafs*6 1 0.02
300 c.-113_-106dup p.(=) 1 0.02
301 c.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" 1 0.02
302 c.1190dupA p.Asp398fs 1 0.02
303 c.[1104C>T; 1107_1327del221] p.[His368His;His370fs] 1 0.02
304 c.1065C>T p.Ser355Ser 1 0.02
305 c.233delC p.Ser78fs 1 0.02
306 c.766A>T p.Lys256* 1 0.02
307 c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" 1 0.02
308 c.1408_1411del4insTG p.Asn470Trpfs*16 1 0.02
309 c.1415_1416delAG p.Glu472fs 1 0.02
310 c.[1103_1172del; 1185_1191del] p.His368fs 1 0.02
311 c.345delC p.Ser116fs 1 0.02
312 c.601dupG p.Ala201fs 1 0.02
313 c.573delC p.Ser194Alafs*16 1 0.02
314 c.857A>G p.Lys286Arg 1 0.02
315 c.375C>A 1 0.02
316 c.[1317_*623delins22; *796_*822del] p.Ala439fs 1 0.02
317 c.1030C>G p.Arg344Gly 1 0.02
318 c.189_190delGA p.Glu63fs 1 0.02
319 c.315dupA p.Arg106fs 1 0.02
320 c.617G>C p.(Gly206Ala) 1 0.02
321 c.1015T>C p.Cys339Arg 1 0.02
322 c.295_297delACC p.Thr99del 1 0.02
323 c.451delG p.Asp151fs 1 0.02
324 c.[397C>T; 602C>T] p.[Arg133Cys; Ala201Val] 1 0.02
325 c.962_1267delinsG p.Lys321Serfs*13 1 0.02
326 c.734_759del26 p.Val245fs 1 0.02
327 c.343_1282del p.Arg115_Glu394del 1 0.02
328 c.428_429insT p.Glu143fs 1 0.02
329 c.820_1153del334ins67 uncertain 1 0.02
330 c.225G>A p.Pro75Pro 1 0.02
331 c.413T>C p.Leu138Ser 1 0.02
332 c.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] 1 0.02
333 c.502C>T p.Arg168* 1 0.02
334 c.911A>G p.Lys304Arg 1 0.02
335 c.[763C>T(;)1233C>T] p.[Arg255*(;)Ser411Ser] 1 0.02
336 c.1265_1289del25insAGCGGCCG p.Gly422fs 1 0.02
337 c.1079C>A p.Ser360* 1 0.02
338 c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs 1 0.02
339 c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] 1 0.02
340 c.323T>A p.Leu108His 1 0.02
341 c.739delG p.Val247fs 1 0.02
342 c.1417G>C p.(Glu473Gln) 1 0.02
343 c.[1363G>T];[=] p.[Glu455*];[=] 1 0.02
344 c.[881_1169del289; 1189_1196del8] p.Arg294_Asp398delinsHisLeuSerProArgAla 1 0.02
345 c.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] 1 0.02
346 c.358T>G p.Tyr120Asp 1 0.02
347 c.[1123_1189del;1249_1270del] p.Ser375Argfs*12 1 0.02
348 c.799A>T p.Lys267* 1 0.02
349 c.585C>T p.Gly195Gly 1 0.02
350 c.1189G>T p.Glu397* 1 0.02
351 c.1340C>T p.Ala447Val 1 0.02
352 c.1461A>C p.*487Cysext*27 1 0.02
353 c.855_859del5ins12 p.Ala287Lysfs*46 1 0.02
354 c.[528C>G; 897C>T] p.[Pro176Pro; Thr299Thr] 1 0.02
355 c.308G>A p.Gly103Asp 1 0.02
356 c.1061G>A p.Arg354His 1 0.02
357 c.807_*125del780 p.Arg270_Ser486delinsGln 1 0.02
358 c.620dupT p.Gln208fs 1 0.02
359 c.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs 1 0.02
360 c.785_818del34 p.Gln262fs 1 0.02
361 c.[1104_1106del3(;) 1157_1197del41] p.[His372del(;) Leu386fs] 1 0.02
362 c.382_1189del808 p.Gln128fs 1 0.02
363 c.943_1140del198ins6 p.Glu315_Val380delins2 1 0.02
364 c.[502C>T(;)750C>A] p.[Arg168*(;)Arg250Arg] 1 0.02
365 c.[763C>T(;)1071C>T] p.[Arg255*(;)Ser357Ser] 1 0.02
366 c.554delG p.Gly185fs 1 0.02
367 c.331A>G p.Arg111Gly 1 0.02
368 c.419C>T p.Ala140Val 1 0.02
369 c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs 1 0.02
370 c.[=/657-?_1316+?del] p.[=/?] 1 0.02
371 c.816_832del17 p.Gly273fs 1 0.02
372 c.299T>G p.Leu100Arg 1 0.02
373 c.[=/808delC] p.[=/Arg270fs] 1 0.02
374 c.-119_-114dupAGGAGG p.(=) 1 0.02
375 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] 1 0.02
376 c.-102_-101delGA p.(=) 1 0.02
377 c.362A>G p.Asp121Gly 1 0.02
378 c.[=/316C>T] p.[=/Arg106Trp] 1 0.02
379 c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] 1 0.02
380 c.431A>G p.Lys144Arg 1 0.02
381 c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] 1 0.02
382 c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 1 0.02
383 c.1038C>G p.Ser346Arg 1 0.02
384 c.605G>A p.Ala202His 1 0.02
385 c.573C>T p.Pro191Pro 1 0.02
386 c.274G>T p.Gly92* 1 0.02
387 c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] 1 0.02
388 c.[=/167_168delCC] p.[=/Pro56fs] 1 0.02
389 c.377A>T p.Asn126Ile 1 0.02
390 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] 1 0.02
391 c.475delG p.Val159* 1 0.02
392 c.[710G>T(;)763C>T] p.[Gly237Val(;)Arg255*] 1 0.02
393 c.470dupT p.Thr158fs 1 0.02
394 c.[965_970del6; 1029dupG; 1138_1208del71] p.[Pro322_Leu323del; Arg344fs] 1 0.02
395 c.608C>T p.Thr203Met 1 0.02
396 c.1093_1095delGAG p.Glu365del 1 0.02
397 c.904C>T p.Pro302Ser 1 0.02
398 c.398G>T p.Arg133Leu 1 0.02
399 c.1151_1183del33 p.Pro384_Ser395delinsArg 1 0.02
400 c.1153_1188del36 p.Pro385_Ser396del 1 0.02
401 c.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] 1 0.02
402 c.1433G>A p.Arg478Gln 1 0.02
403 c.277C>T p.Pro93Ser 1 0.02
404 c.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" 1 0.02
405 c.1449G>A p.(=) 1 0.02
406 c.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] 1 0.02
407 c.[502C>T(;)897C>T] p.[Arg168*(;)Thr299Thr] 1 0.02
408 c.914_1172del259 p.Lys305fs 1 0.02
409 c.914A>C p.Lys305Thr 1 0.02
410 c.1085_1197del113 p.Pro362fs 1 0.02
411 c.488_1189del702 p.Gly163_Ser396del 1 0.02
412 c.[777C>T(;)1157_1197del41] p.[Ala259Ala(;)Leu386fs] 1 0.02
413 c.317G>T p.Arg106Leu 1 0.02
414 c.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] 1 0.02
415 c.629A>T p.Lys210Ile 1 0.02
416 c.1255C>T p.Pro419Ser 1 0.02
417 c.766_779dup14 p.Asp260fs 1 0.02
418 c.[1063_1188del126; 1189_1231inv; 1232_1236del5] p.Ser355fs 1 0.02
419 c.439G>A p.Asp147Asn 1 0.02
420 c.906_1138del233insAC p.Ile303_Val380delinsLeu 1 0.02
421 c.318_321dup p.Leu108fs 1 0.02
422 complex rearrangement complex rearrangement 1 0.02
423 c.[316C>T(;)1233C>T] p.[Arg106Trp(;)Ser411Ser] 1 0.02
424 c.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] 1 0.02
425 c.660C>T p.Leu220Leu 1 0.02
426 c.-113C>T p.(=) 1 0.02
427 c.215C>T p.Pro72Leu 1 0.02
428 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] 1 0.02
429 c.1271_1416del146 p.Leu424fs 1 0.02
430 c.996C>T p.(=) 1 0.02
431 c.1170_1207del38 p.Pro391* 1 0.02
432 c.1176G>A p.Glu392Glu 1 0.02
433 c.961A>G p.Lys321Glu 1 0.02
434 c.1152_1292del141 p.Pro385_Lys431del 1 0.02
435 c.608_609insA p.Ser204fs 1 0.02
436 c.[1035A>G(;)1233C>T] p.[Lys345Lys(;)Ser411Ser] 1 0.02
437 c.-131delinsGA p.(=) 1 0.02
438 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del;Glu394Profs*2] 1 0.02
439 c.481G>T p.Gly161Trp 1 0.02
440 c.1193A>C p.Asp398Ala 1 0.02
441 c.470_471delTC p.Phe157fs 1 0.02
442 c.[426C>T(;) 502C>T] p.[Phe142Phe(;) Arg168*] 1 0.02
443 c.1069_1071delAGC p.Ser357del 1 0.02
444 c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation 1 0.02
445 c.1451G>C p.Arg484Thr 1 0.02
446 c.431delA p.Lys144fs 1 0.02
447 c.1048_1199del152 p.Ser350fs 1 0.02
448 c.[584_624del41insTT; 638delTinsCA] p.[Gly195_Gln208delinsVal; Leu213Profs*23] 1 0.02
449 c.[334A>T(;)871T>G] p.[Lys112*(;)Ser291Ala] 1 0.02
450 c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] 1 0.02
451 c.378-3_383del9 p.Asn126Lysfs*11 1 0.02
452 c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] 1 0.02
453 c.155A>G p.His52Arg 1 0.02
454 c.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" 1 0.02
455 c.916C>T p.Arg306Cys 1 0.02
456 c.140dupA p.Pro48fs 1 0.02
457 c.1214_1230del17 p.Pro405fs 1 0.02
458 c.1141C>T p.Pro381Ser 1 0.02
459 c.1173_1207del35 p.Glu392* 1 0.02
460 c.822_1184del363 p.Val275_Ser396del 1 0.02
461 c.201delG p.Ser68fs 1 0.02
462 c.1316C>T p.Ala439Val 1 0.02
463 c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] p.Glu348fs 1 0.02
464 c.1363G>T p.Glu455* 1 0.02
465 c.1278C>T p.Ser426Ser 1 0.02
466 c.903C>T p.Leu301Leu 1 0.02
467 c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 1 0.02
468 c.-138_-134dupCGCCG p.(=) 1 0.02
469 [c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] 1 0.02
470 c.[473C>T(;)590C>T] p.[Thr158Met(;)Thr197Met] 1 0.02
471 c.1137C>T p.Pro379Pro 1 0.02
472 c.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] 1 0.02
473 c.832G>A p.Ala278Thr 1 0.02
474 c.1404G>A p.Arg468Arg 1 0.02
475 c.[426C>T(;)608C>T] p.[Phe142Phe(;)Thr203Met] 1 0.02
476 c.529A>T p.Lys177* 1 0.02
477 c.1163_1216del54 p.Pro388_Pro405del 1 0.02
478 c.880C>T p.Arg294* 1 0.02
479 c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] 1 0.02
480 c.1276_*113del299ins3 p.Ser426fs 1 0.02
481 c.91delG p.Val31* 1 0.02
482 c.1041_*29del450 p.Lys347_Ser486delins17 1 0.02
483 c.410A>G p.Glu137Gly 1 0.02
484 c.[763C>T(;)1449G>C] p.[Arg255*(;)Glu483Asp] 1 0.02
485 c.752C>T p.Pro251Leu 1 0.02
486 c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] 1 0.02
487 c.226delG p.Glu76fs 1 0.02
488 c.883delT p.Ser295fs 1 0.02
489 c.596C>A p.Pro199His 1 0.02
490 c.1123_1202del80 p.Ser375fs 1 0.02
491 c.439delG p.Asp147fs 1 0.02
492 c.590C>T p.Thr197Met 1 0.02
493 c.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] 1 0.02
494 c.1117_1203del87 p.Ser373_Ser401del 1 0.02
495 c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] 1 0.02
496 c.279C>T p.Pro93Pro 1 0.02
497 c.[423C>G];[=] p.[Tyr141*];[=] 1 0.02
498 c.467A>C p.Asp156Ala 1 0.02
499 c.1155_1166del12 p.Leu386_Pro389del 1 0.02
500 c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" 1 0.02
501 c.617delG p.Gly206fs 1 0.02
502 c.[473C>T(;)1233C>T] p.[Thr158Met(;)Ser411Ser] 1 0.02
503 c.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] 1 0.02
504 c.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] 1 0.02
505 c.[455C>G(;)582C>T] p.[Pro152Arg(;)Ser194Ser] 1 0.02
506 c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] 1 0.02
507 c.224C>T p. Pro75Leu 1 0.02
508 c.311_323del13 p.Trp104fs 1 0.02
509 c.1157_1192del36 p.Leu386_Asp398delinsHis 1 0.02
510 c.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] 1 0.02
511 c.667A>T p.Lys223* 1 0.02
512 c.1147_1174del28 p.Leu383fs 1 0.02
513 c.906delC p.Ile303fs 1 0.02
514 c.1009_1027del19 p.Lys337fs 1 0.02
515 c.627G>A p.Val209Val 1 0.02
516 c.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] 1 0.02
517 c.1030_1195del166insGT p.Arg344fs 1 0.02
518 c.731_1166del436 p.Gln244fs 1 0.02
519 c.426C>T p.Phe142Phe 1 0.02
520 c.310T>C p.Trp104Arg 1 0.02
521 c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 1 0.02
522 c.1162_1163delinsTA p.Pro388* 1 0.02
523 c.1061G>T p.Arg354Leu 1 0.02
524 c.795C>G p.Pro265Pro 1 0.02
525 c.904C>A p.Pro302Thr 1 0.02
526 c.869_880delinsCACA p.Glu290Alafs*38 1 0.02
527 c.482G>A p.Gly161Glu 1 0.02
528 c.126dupG p.His43fs 1 0.02
529 c.[473C>T(;)1335G>A] p.[Thr158Met(;)Thr445Thr] 1 0.02
530 c.[808C>T(;) 1233C>T] p.[Arg270*(;) Ser411Ser] 1 0.02
531 c.[27-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] 1 0.02
532 c.[905C>T;917G>A] p.[Pro302Leu;Arg306His] 1 0.02
533 c.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" 1 0.02
534 c.523A>T p.Lys175* 1 0.02
535 c.[965C>T(;)999G>T] p.[Pro322Leu(;)Gly333Gly] 1 0.02
536 c.1163_1200del38 p.Pro388Glnfs*4 1 0.02
537 c.908T>G p.Ile303Ser 1 0.02
538 c.311G>A p.Trp104* 1 0.02
539 c.249_250ins7 p.Arg84fs 1 0.02
540 c.[750C>T(;)1459T>C] p.[Arg250Arg(;)*487Argext27] 1 0.02
541 c.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] 1 0.02
542 c.506_507dupAG p.Gln170fs 1 0.02
543 c.478dupA p.Thr160fs 1 0.02
544 c.1046_1206del161 p.Ser349fs 1 0.02
545 c.[=/360T>G] p.[=/Tyr120*] 1 0.02
546 c.1023_*14472del14911 p.Ser341fs 1 0.02
547 c.297C>G p.Thr99Thr 1 0.02
548 c.257C>G p.Ser86Cys 1 0.02
549 c.1097_*13del378 p.His366_Ser486delins22 1 0.02
550 c.1189G>A p.(Glu397Lys) 1 0.02
551 c.[641_653del13; 711_1309del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu 1 0.02
552 c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp 1 0.02
553 c.679C>G p.Gln227Glu 1 0.02
554 c.1138G>A p.Val380Met 1 0.02
555 c.622C>T p.Gln208* 1 0.02
556 c.1437G>A p.Thr479Thr 1 0.02
557 c.[426C>T(;)916C>T] p.[Phe142Phe(;)Arg306Cys] 1 0.02
558 c.654_657delGAAG p.Lys219fs 1 0.02
559 c.400T>C p.Ser134Pro 1 0.02
560 c.1403_1408del6 p.Arg468_Pro469del 1 0.02
561 c.[1104_1106del3;1157_1197del41] p.[His372del;Leu386fs] 1 0.02
562 c.[763C>T(;)1133C>G] p.[Arg255*(;)Ala378Gly] 1 0.02
563 c.258_259delCA p.Ile87fs 1 0.02
564 c.982C>G p.Leu328Val 1 0.02
565 c.56dupA p.Leu21fs 1 0.02
566 c.1358G>A p.Arg453Gln 1 0.02
567 c.535C>T p.Pro179Ser 1 0.02
568 c.679C>T p.Gln227* 1 0.02
569 c.390dupA p.Ala131fs 1 0.02
570 c.1078_*2524del2908 p.Ser360fs 1 0.02
571 c.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] 1 0.02
572 c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] 1 0.02
573 c.341G>C p.Gly114Ala 1 0.02
574 c.894_1095del202 p.Glu298fs 1 0.02
575 c.1164_1194del31 p.Pro391fs 1 0.02
576 c.617G>C p.Gly206Ala 1 0.02
577 c.377A>G p.Asn126Ser 1 0.02
578 c.35_42dup p.Asp15fs 1 0.02
579 c.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] 1 0.02
580 c.543_544delTC p.Pro182fs 1 0.02
581 c.767_1175del409 p.Lys256Serfs*17 1 0.02
582 c.[502C>T(;)1326C>T] p.[Arg168*(;)Thr442Thr] 1 0.02
583 c.865A>T p.Lys289* 1 0.02
584 c.[397C>T(;)1233C>T] p.[Arg133Cys(;)Ser411Ser] 1 0.02
585 c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs 1 0.02
586 c.[1155_1172del18; 1373G>A] p.[Leu386_Pro391del; Arg458His] 1 0.02
587 c.[1089_1129del41;1156_1197del42] p.Lys364Glyfs*13 1 0.02
588 c.[834C>T(;) 965C>T] p.[Ala278Ala(;) Pro322Leu] 1 0.02
589 c.[880C>T(;)1233C>T] p.[Arg294*(;)Ser411Ser] 1 0.02
590 c.1461A>G p.*487Trpext*27 1 0.02
591 c.463T>A p.Phe155Ile 1 0.02
592 c.857_858dupAA p.Ala287Lysfs*3 1 0.02
593 c.673C>A p.Pro225Thr 1 0.02
594 c.1127C>G p.Pro376Arg 1 0.02
595 c.1115_1201del87 p.His372_Ser401delinsArg 1 0.02
596 c.850A>G p.Lys284Glu 1 0.02
597 CDKL5: c.119C>T CDKL5: p.A40V 1 0.02
598 c.842_843insT p.Glu282fs 1 0.02
599 c.[1105_1116del12; 1152_1195del44] p.[His369_His372del; Pro385fs] 1 0.02
600 c.[397C>T(;) 582C>T] p.[Arg133Cys(;) Ser194Ser] 1 0.02
601 c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] 1 0.02
602 c.859G>C p.Ala287Pro 1 0.02
603 c.1358G>A p.Arg453Gln 1 0.02
604 c.1048_1095del48 p.Ser350_Glu365del 1 0.02
605 c.409_1158del p.Glu137_Leu386del 1 0.02
606 c.245A>G p.Lys82Arg 1 0.02
607 c.1324A>G p.Thr442Ala 1 0.02
608 c.1450_1453delAGAG p.Arg484fs 1 0.02
609 c.1152_*29del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu 1 0.02
610 c.[808C>T(;) 1326C>T] p.[Arg270*(;) Thr442Thr] 1 0.02
611 c.1223_1265del43 p.Leu408fs 1 0.02
612 c.[398G>T(;)602C>T] p.[Arg133Leu(;)Ala201Val] 1 0.02
613 c.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] 1 0.02
614 c.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] 1 0.02
615 c.[1024_1025insAG;1029delG;1155_1209del55] p.Proro342_Proro403delins44 1 0.02
616 c.-140_-138dup3 p.(=) 1 0.02
617 c.326dupA p.Gln110fs 1 0.02
618 c.1364_1365insC p.Glu455fs 1 0.02
619 c.820_823dupAGTG p.Val275Glufs*57 1 0.02
620 c.28G>T p.Glu10* 1 0.02
621 c.686C>A p.Ser229* 1 0.02
622 c.591G>A p.Thr197Thr 1 0.02
623 c.715delG p.Ala239fs 1 0.02
624 c.849C>G p.Ala283Ala 1 0.02
625 c.863_881del19 p.Val288fs 1 0.02
626 c.999G>T p.Gly333Gly 1 0.02
627 c.1284C>T p.Gly428Gly 1 0.02
628 c.792_793delTC p.Pro265fs 1 0.02
629 c.871T>G p.Ser291Ala 1 0.02
630 c.517C>G p.Pro173Ala 1 0.02
631 c.752C>G p.Pro251Arg 1 0.02
632 c.364G>A p.Val122Met 1 0.02
633 c.574A>T p.Lys192* 1 0.02
634 c.[397C>T(;)1061G>T] p.[Arg133Cys(;)Arg354Leu] 1 0.02
635 c.495delC p.Ser166fs 1 0.02
636 c.566delG p.Gly189fs 1 0.02
637 c.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] 1 0.02
638 c.616_1122del507 p.Gly206_Glu374del 1 0.02
639 c.1053C>G p.Pro351Pro 1 0.02
640 c.1229G>A p.Ser410Asn 1 0.02
641 c.[590C>T(;)916C>T] p.[Thr197Met(;)Arg306Cys] 1 0.02
642 c.[608C>T(;)763C>T] p.[Thr203Met(;)Arg255*] 1 0.02
643 c.1373G>A p.Arg458His 1 0.02
644 c.[1137C>T;1157_1200del44] p.[Pro379Pro;Leu386fs] 1 0.02
645 c.874_875insA p.Ser292fs 1 0.02
646 c.302C>A p.Pro101His 1 0.02
647 c.420delG p.Tyr141fs 1 0.02
648 c.1330_1342del13 p.Ala444fs 1 0.02
649 c.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] 1 0.02
650 c.689_756del68 p.Pro230fs 1 0.02
651 c.760A>T p.Lys254* 1 0.02
652 c.1160C>T p.Pro387Leu 1 0.02
653 c.531delA p.Lys177fs 1 0.02
654 c.1210G>A p.Glu404Lys 1 0.02
655 c.1159_1458del300 p.Pro387* 1 0.02
656 c.50dupA p.Asp17fs 1 0.02
657 c.869dupA p.Ser291fs 1 0.02
658 c.720dupC p.Thr241fs 1 0.02
659 c.1235_1260del26 p.Val412fs 1 0.02
660 c.763C>T p.Arg255* 1 0.02
661 c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] 1 0.02
662 c.867_1223delinsA p.Ser291Glnfs*26 1 0.02
663 c.609G>A p.Thr203Thr 1 0.02
664 c.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" 1 0.02
665 c.819delG p.Ser274fs 1 0.02
666 c.1450_*12del24 p.Val485_Ser486delins21 1 0.02
667 c.243dupC p.Lys82fs 1 0.02
668 c.1180_1181insT p.Glu394Valfs*11 1 0.02
669 c.28G>C p.Glu10Gln 1 0.02
670 c.[916C>T(;)1233C>T] p.[Arg306Cys(;)Ser411Ser] 1 0.02
671 c.[488_995del508;1061_1062delGC;1229_1240del12] p.Gly163Alafs*5 1 0.02
672 c.302C>T p.Pro101Leu 1 0.02
673 c.900_908del p.Leu301_Ile303del 1 0.02
674 c.1052_1200del149 p.Pro351fs 1 0.02
675 c.1123_1191del69 p.Ser375_Glu397del 1 0.02
676 c.[=/398G>A] p.[=/Arg133His] 1 0.02
677 c.806delG p.Gly269Alafs*20 1 0.02
678 c.413T>A p.Leu138* 1 0.02
679 c.763_1383del621ins15 p.Arg255_Ile461delins5 1 0.02
680 c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] 1 0.02
681 c.635_655del21 p.Val212_Lys219delinsGlu 1 0.02
682 Records