Summary of MECP2 mutations:

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


No: Systematic Name Amino acid change Frequency Percentage
1 MECP2_e1:c.-235G>T 1 0.02
2 c.-168-?_26+?del p.Met1? 14 0.29
3 c.-168-?_*?del p.Met1? 2 0.04
4 c.-168-?_*?dup p.Met1? 17 0.36
5 c.-168-?_26+?del (deletion exons 1 and 2) p.Met1? 1 0.02
6 c.-98-?_377+?del (deletion of exons 2 and 3) p.Met1? 1 0.02
7 MECP2_e1: c.-46_-45delGC 5'UTR variation 1 0.02
8 MECP2_e1: c.-27_-26delinsTT 5'UTR variation 1 0.02
9 MECP2_e1: c.-27_-26delAG 5'UTR variation 1 0.02
10 c.-15C>T 5'UTR variation 2 0.04
11 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 6 0.13
12 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del;Glu394Profs*2] 1 0.02
13 c.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] 1 0.02
14 c.[880C>T(;)1233C>T] p.[Arg294*(;)Ser411Ser] 1 0.02
15 c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] 1 0.02
16 c.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] 1 0.02
17 c.*1737G>A 3'UTR variation 13 0.27
18 c.[473C>T(;)1335G>A] p.[Thr158Met(;)Thr445Thr] 1 0.02
19 c.[1137C>T;1157_1200del44] p.[Pro379Pro;Leu386fs] 1 0.02
20 Not known p.Ser373* 1 0.02
21 c.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] 1 0.02
22 c.[397C>T(;)1061G>T] p.[Arg133Cys(;)Arg354Leu] 1 0.02
23 c.[1123_1189del;1249_1270del] p.Ser375Argfs*12 1 0.02
24 c.*9G>A 3'UTR variation 19 0.4
25 uncertain p.Ile314Ile 1 0.02
26 c.*489G>C 3'UTR variation 1 0.02
27 c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] p.Glu348fs 1 0.02
28 c.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] 1 0.02
29 c.[1163_1173del11; 1176_1193del18] p.Pro388fs 1 0.02
30 c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] 1 0.02
31 c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] 1 0.02
32 c.[397C>T(;) 582C>T] p.[Arg133Cys(;) Ser194Ser] 1 0.02
33 c.*2556T>A 3'UTR variation 1 0.02
34 c.[423C>G];[=] p.[Tyr141*];[=] 1 0.02
35 c.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] 1 0.02
36 c.[488_995del508;1061_1062delGC;1229_1240del12] p.Gly163Alafs*5 1 0.02
37 c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs 1 0.02
38 c.[502C>T; 880C>T] p.Arg168* 1 0.02
39 c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] 1 0.02
40 c.*92C>T 3'UTR variation 2 0.04
41 c.*93G>A 3'UTR variation 4 0.08
42 c.[377+22C>G; 378-74C>T] intronic variation 1 0.02
43 c.[1363G>T];[=] p.[Glu455*];[=] 1 0.02
44 c.*529G>T 3'UTR variation 1 0.02
45 c.[881_1169del289; 1189_1196del8] p.Arg294_Asp398delinsHisLeuSerProArgAla 1 0.02
46 c.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] 1 0.02
47 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] 3 0.06
48 c.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] 1 0.02
49 complex rearrangement complex rearrangement 1 0.02
50 c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs 1 0.02
51 c.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 1 0.02
52 not certain p.Leu386fs 6 0.13
53 c.*2657G>A 3'UTR variation 1 0.02
54 c.[397C>T(;)1233C>T] p.[Arg133Cys(;)Ser411Ser] 1 0.02
55 c.[608C>T(;)763C>T] p.[Thr203Met(;)Arg255*] 1 0.02
56 c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs 1 0.02
57 c.[401C>G;1168_1173del6] p.[Ser134Cys;Pro390_Pro391del] 1 0.02
58 c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] 1 0.02
59 c.[426C>T(;) 502C>T] p.[Phe142Phe(;) Arg168*] 1 0.02
60 c.[763C>T(;)1449G>C] p.[Arg255*(;)Glu483Asp] 1 0.02
61 c.[1155_1172del18; 1373G>A] p.[Leu386_Pro391del; Arg458His] 1 0.02
62 c.*328G>A 3'UTR variation 4 0.08
63 c.[1157_1197del41; 1232_1240del9] p.Leu386fs 1 0.02
64 c.[1105_1116del12; 1152_1195del44] p.[His369_His372del; Pro385fs] 1 0.02
65 c.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" 1 0.02
66 c.*806G>A 3'UTR variation 1 0.02
67 c.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" 1 0.02
68 c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] 1 0.02
69 c.[1035A>G(;)1233C>T] p.[Lys345Lys(;)Ser411Ser] 1 0.02
70 c.*98dupA 3'UTR variation 23 0.48
71 c.[=/808delC] p.[=/Arg270fs] 1 0.02
72 c.*204G>A 3'UTR variation 1 0.02
73 c.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] 1 0.02
74 c.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] 1 0.02
75 c.[1053_1054ins10; 1145_1199del55] p.Lys352fs 1 0.02
76 c.[763C>T(;)1071C>T] p.[Arg255*(;)Ser357Ser] 1 0.02
77 c.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] 1 0.02
78 c.*2706G>A 3'UTR variation 1 0.02
79 c.[398G>T(;)602C>T] p.[Arg133Leu(;)Ala201Val] 1 0.02
80 c.[27-5862_1132del; 1157_1197del] p.Arg9fs 1 0.02
81 c.[763C>T(;)1233C>T] p.[Arg255*(;)Ser411Ser] 1 0.02
82 c.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] 1 0.02
83 c.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] 1 0.02
84 c.*359G>C 3'UTR variation 1 0.02
85 c.[377+22C>G(;)378-74C>T] intronic variation 1 0.02
86 c.[184-?_1065+?del; *5338_*5361+?del] p.? 1 0.02
87 c.*55C>G 3'UTR variation 3 0.06
88 c.*831G>C 3'UTR variation 1 0.02
89 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] 1 0.02
90 c.[1104_1106del3(;) 1157_1197del41] p.[His372del(;) Leu386fs] 1 0.02
91 c.*122delT 3'UTR variation 1 0.02
92 c.*8503dupC 3'UTR variation 2 0.04
93 c.*371G>C 3'UTR variation 1 0.02
94 c.[1197_1237inv; 1238_1266del] p.Thr400fs 1 0.02
95 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs 6 0.13
96 c.[378-109A>G;518C>G] p.Pro173Arg 1 0.02
97 c.[=/398G>A] p.[=/Arg133His] 1 0.02
98 c.[502C>T; 1136_1142del7] p.Arg168* 1 0.02
99 c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation 1 0.02
100 c.*2956G>A 3'UTR variation 1 0.02
101 c.[590C>T(;)916C>T] p.[Thr197Met(;)Arg306Cys] 1 0.02
102 c.[27-5944_1132del; 1157_1197del] p.Arg9fs 1 0.02
103 c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" 1 0.02
104 c.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] 1 0.02
105 c.[502C>T(;)750C>A] p.[Arg168*(;)Arg250Arg] 1 0.02
106 c.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] 1 0.02
107 c.[750C>T(;)1459T>C] p.[Arg250Arg(;)*487Argext27] 1 0.02
108 c.*363G>C 3'UTR variation 1 0.02
109 c.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] 1 0.02
110 c.[=/316C>T] p.[=/Arg106Trp] 1 0.02
111 c.*875dupA 3'UTR variation 1 0.02
112 c.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" 1 0.02
113 c.[641_653del13; 711_1309del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu 1 0.02
114 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] 1 0.02
115 c.*544G>A 3'UTR variation 1 0.02
116 c.[905C>T;917G>A] p.[Pro302Leu;Arg306His] 1 0.02
117 c.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] 1 0.02
118 c.[777C>T(;)1157_1197del41] p.[Ala259Ala(;)Leu386fs] 1 0.02
119 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] 1 0.02
120 c.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] 1 0.02
121 c.*3477G>A 3'UTR variation 5 0.11
122 c.*4576A>C 3'UTR variation 3 0.06
123 c.[916C>T(;)1233C>T] p.[Arg306Cys(;)Ser411Ser] 1 0.02
124 c.[710G>T(;)763C>T] p.[Gly237Val(;)Arg255*] 1 0.02
125 c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 1 0.02
126 c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] 1 0.02
127 c.*1237T>C 3'UTR variation 1 0.02
128 c.[378-74C>T];[378-74C>T] intronic variation 1 0.02
129 c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] 1 0.02
130 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] 1 0.02
131 c.*554G>A 3'UTR variation 1 0.02
132 c.*8C>T 3'UTR variation 2 0.04
133 c.[1317_*623delins22; *796_*822del] p.Ala439fs 1 0.02
134 c.[502C>T;880C>T] p.Arg168* 1 0.02
135 c.[1103_1172del; 1185_1191del] p.His368fs 1 0.02
136 c.[528C>G; 897C>T] p.[Pro176Pro; Thr299Thr] 1 0.02
137 c.[27-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] 1 0.02
138 c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] 1 0.02
139 c.*3658C>T 3'UTR variation 1 0.02
140 c.*5486_*5487dupAT 3'UTR variation 2 0.04
141 c.[1233C>T(;)1460G>T] p.[Ser411Ser(;)*487Leuext*27] 1 0.02
142 c.[426C>T(;)916C>T] p.[Phe142Phe(;)Arg306Cys] 1 0.02
143 c.*177G>C 3'UTR variation 2 0.04
144 c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] 1 0.02
145 c.[964C>G(;)*98dupA] p.Pro322Ala 1 0.02
146 c.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] 1 0.02
147 c.[1159_1174del16; 1205_1432del228] p.Pro387fs 1 0.02
148 c.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" 1 0.02
149 c.[316C>T(;)1233C>T] p.[Arg106Trp(;)Ser411Ser] 1 0.02
150 c.*3662A>G 3'UTR variation 1 0.02
151 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] 3 0.06
152 c.[426C>T(;)608C>T] p.[Phe142Phe(;)Thr203Met] 1 0.02
153 c.[965C>T(;)999G>T] p.[Pro322Leu(;)Gly333Gly] 1 0.02
154 c.[397C>T; 602C>T] p.[Arg133Cys; Ala201Val] 1 0.02
155 c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] 1 0.02
156 c.*767G>T 3'UTR variation 1 0.02
157 c.[806delG(;) *8C>T] p.Gly269fs 1 0.02
158 c.[203C>G;1094_1138del45] p.Ser68* 1 0.02
159 c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] 1 0.02
160 c.*3878G>C 3'UTR variation 2 0.04
161 c.*7748C>T 3'UTR variation 2 0.04
162 c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" 1 0.02
163 c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] p.Lys377fs 1 0.02
164 c.[502C>T(;)1326C>T] p.[Arg168*(;)Thr442Thr] 1 0.02
165 c.*5348T>C 3'UTR variation 2 0.04
166 c.[1104C>T; 1107_1327del221] p.[His368His;His370fs] 1 0.02
167 c.*4086_*4087delGT 3'UTR variation 1 0.02
168 c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] 1 0.02
169 c.[455C>G(;)582C>T] p.[Pro152Arg(;)Ser194Ser] 1 0.02
170 c.*861T>G 3'UTR variation 1 0.02
171 c.[334A>T(;)871T>G] p.[Lys112*(;)Ser291Ala] 1 0.02
172 c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs 1 0.02
173 c.[1104_1106del3;1157_1197del41] p.[His372del;Leu386fs] 1 0.02
174 c.[502C>T(;)897C>T] p.[Arg168*(;)Thr299Thr] 1 0.02
175 c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] 1 0.02
176 c.*1134G>A 3'UTR variation 1 0.02
177 c.[1063_1188del126; 1189_1231inv; 1232_1236del5] p.Ser355fs 1 0.02
178 c.*7856A>C 3'UTR variation 18 0.38
179 c.*92C>G 3'UTR variation 1 0.02
180 c.*156G>T 1 0.02
181 c.[26+22C>G(;) 808C>T] p.Arg270* 2 0.04
182 c.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] 1 0.02
183 c.[965_970del6; 1029dupG; 1138_1208del71] p.[Pro322_Leu323del; Arg344fs] 1 0.02
184 c.*36G>C 3'UTR variation 1 0.02
185 c.*5839C>T 3'UTR variation 1 0.02
186 c.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" 1 0.02
187 c.[=/360T>G] p.[=/Tyr120*] 1 0.02
188 c.[584_624del41insTT; 638delTinsCA] p.[Gly195_Gln208delinsVal; Leu213Profs*23] 1 0.02
189 c.*878C>G 3'UTR variation 23 0.48
190 c.[473C>T(;)590C>T] p.[Thr158Met(;)Thr197Met] 1 0.02
191 c.[808C>T(;) 1233C>T] p.[Arg270*(;) Ser411Ser] 1 0.02
192 c.[1089_1129del41;1156_1197del42] p.Lys364Glyfs*13 1 0.02
193 c.[=/167_168delCC] p.[=/Pro56fs] 1 0.02
194 c.[*8500C>G];[*8503delC] 3'UTR variation 1 0.02
195 c.*8503delC 3'UTR variation 11 0.23
196 c.*487G>C 3'UTR variation 1 0.02
197 c.[808C>T(;) 1326C>T] p.[Arg270*(;) Thr442Thr] 1 0.02
198 c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] 1 0.02
199 c.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] 1 0.02
200 c.*14G>A 3'UTR variation 3 0.06
201 c.[763C>T(;)1133C>G] p.[Arg255*(;)Ala378Gly] 1 0.02
202 c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] 1 0.02
203 c.[834C>T(;) 965C>T] p.[Ala278Ala(;) Pro322Leu] 1 0.02
204 c.[1121_1311del191; 1326_1334del9] p.Glu374fs 1 0.02
205 c.*1368C>A 3'UTR variation 1 0.02
206 c.[473C>T(;)1233C>T] p.[Thr158Met(;)Ser411Ser] 1 0.02
207 c.[1024_1025insAG;1029delG;1155_1209del55] p.Proro342_Proro403delins44 1 0.02
208 c.[=/657-?_1316+?del] p.[=/?] 1 0.02
209 c.*8500C>G 3'UTR variation 1 0.02
210 c.*393G>A 3'UTR variation 1 0.02
211 c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] 1 0.02
212 c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? 1 0.02
213 c.1-?dup p.Met1? 1 0.02
214 MECP2_e1: c.1A>G MeCP2_e1: p.M1? 1 0.02
215 AY523575.1:g.1029dupC 5'UTR variation 7 0.15
216 c.1-?_26+?dup p.Met1? 1 0.02
217 MECP2_e1: c.1A>T MeCP2_e1: p.M1? 2 0.04
218 MECP2_e1: c.2T>C MeCP2_e1: p.M1? 1 0.02
219 MECP2_e1: c.5C>T MeCP2_e1: p.A2V 4 0.08
220 MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup 2 0.04
221 MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del 2 0.04
222 MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del 1 0.02
223 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup 6 0.13
224 MECP2_e1: c.18_23dup6 5 0.11
225 MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup 1 0.02
226 MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 1 0.02
227 c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs 1 0.02
228 c.26+2T>A intronic variation 1 0.02
229 c.27-?_1397+?del p.Arg9fs 3 0.06
230 c.27-6026_1190delinsGT (deletion of exons 3 and 4) p.Arg9fs 1 0.02
231 c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs 2 0.04
232 c.27-3928_1184del (deletion of exons 3 and 4) p.Arg9fs 1 0.02
233 c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? 1 0.02
234 c.27-12521_*5072del19784 p.Arg9fs 1 0.02
235 c.27-?_(378_1461)del p.Arg9fs 2 0.04
236 c.27-8C>G intronic variation 2 0.04
237 c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs 1 0.02
238 c.27-?_*8554+?del (deletion of exons 3 and 4) p.Arg9fs 1 0.02
239 c.27-?_*?del p.Arg9fs 33 0.69
240 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer 3 0.06
241 c.27-96_1205del (deletion of exon 3 and 4) p.Arg9fs 1 0.02
242 c.27-?_1337+?del p.Arg9fs 3 0.06
243 c.27-6C>G p.Arg9fs 1 0.02
244 c.27-?_1185+?del p.Arg9fs 1 0.02
245 c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) p.Arg9fs 1 0.02
246 c.27-4722_*739delins43 p.Arg9fs 1 0.02
247 c.27-?_1018+?del p.Arg9fs 3 0.06
248 c.27-55G>A intronic variation 1 0.02
249 c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? 2 0.04
250 c.27-4722_*112delinsCACTTTGTG p.Arg9fs 1 0.02
251 c.27-9A>G intronic variation 1 0.02
252 c.27-?_1021+?del (deletion of exons 3 and start of exon 4) p.Arg9fs 1 0.02
253 c.27-2A>G intronic variation 4 0.08
254 c.28G>C p.Glu10Gln 1 0.02
255 c.28G>T p.Glu10* 1 0.02
256 MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs 1 0.02
257 c.35_42dup p.Asp15fs 1 0.02
258 c.36G>C p.Lys12Asn 2 0.04
259 MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup 1 0.02
260 MECP2_e1: c.45_47dup 1 0.02
261 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 16 0.34
262 c.46C>T p.Gln16* 2 0.04
263 MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 1 0.02
264 MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 8 0.17
265 MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 1 0.02
266 MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 1 0.02
267 MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 1 0.02
268 MECP2_e1: c.49G>A MeCP2_e1: p.E17K 1 0.02
269 c.50dupA p.Asp17fs 1 0.02
270 c.55C>T p.Gln19* 2 0.04
271 c.56dupA p.Leu21fs 1 0.02
272 MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 1 0.02
273 MECP2_e1: c.62+2_62+3delTG intronic variation 3 0.06
274 MECP2_e1:c.62+2_63+3delTG Intronic variation 1 0.02
275 MECP2_e1: c.62+1G>A intronic variation 1 0.02
276 c.64A>T p.Lys22* 2 0.04
277 c.76delC p.Leu26fs 2 0.04
278 c.91delG p.Val31* 1 0.02
279 c.100_103delGATA p.Asp34fs 2 0.04
280 c.107_113del7 p.Lys36fs 1 0.02
281 c.107_108delAA p.Lys36fs 1 0.02
282 c.108_111delAGAA p.Glu37fs 2 0.04
283 c.117dupA p.Glu40fs 1 0.02
284 CDKL5: c.119C>T CDKL5: p.A40V 1 0.02
285 c.119_120delAG p.Glu40fs 2 0.04
286 c.126dupG p.His43fs 1 0.02
287 c.140dupA p.Pro48fs 1 0.02
288 c.146C>A p.Ser49* 4 0.08
289 c.146C>G p.Ser49* 1 0.02
290 c.153C>G p.His51Gln 2 0.04
291 c.155A>G p.His52Arg 1 0.02
292 c.167_168delCC p.Pro56fs 2 0.04
293 c.168C>T p.Pro56Pro 3 0.06
294 c.184-?_1065+?del p.? 1 0.02
295 c.189_190delGA p.Glu63fs 1 0.02
296 c.194C>G p.Ser65* 2 0.04
297 c.201delG p.Ser68fs 1 0.02
298 c.203C>G p.Ser68* 1 0.02
299 c.210C>T p.Ser70Ser 4 0.08
300 c.215C>T p.Pro72Leu 1 0.02
301 c.215dupC p.Ala73fs 1 0.02
302 c.215_216insT p.Ala73fs 1 0.02
303 c.224C>T p. Pro75Leu 1 0.02
304 c.225G>A p.Pro75Pro 1 0.02
305 c.226delG p.Glu76fs 1 0.02
306 c.229_238del10 p.Ala77fs 2 0.04
307 c.233delC p.Ser78fs 1 0.02
308 c.243dupC p.Lys82fs 1 0.02
309 c.245A>G p.Lys82Arg 1 0.02
310 c.248-?_320+?del (exon 3 deletion) p.? 1 0.02
311 c.249_250ins7 p.Arg84fs 1 0.02
312 c.257C>G p.Ser86Cys 1 0.02
313 c.258_259delCA p.Ile87fs 1 0.02
314 c.274G>T p.Gly92* 1 0.02
315 c.277C>T p.Pro93Ser 1 0.02
316 c.279C>T p.Pro93Pro 1 0.02
317 c.289G>T p.Asp97Tyr 4 0.08
318 c.291C>A p.Asp97Glu 2 0.04
319 c.295_297delACC p.Thr99del 1 0.02
320 c.297C>G p.Thr99Thr 1 0.02
321 c.298C>G p.Leu100Val 7 0.15
322 c.299T>G p.Leu100Arg 1 0.02
323 c.301C>T p.Pro101Ser 4 0.08
324 c.302C>T p.Pro101Leu 1 0.02
325 c.302C>G p.Pro101Arg 5 0.11
326 c.302C>A p.Pro101His 1 0.02
327 c.308G>A p.Gly103Asp 1 0.02
328 c.310T>C p.Trp104Arg 1 0.02
329 c.311_323del13 p.Trp104fs 1 0.02
330 c.311G>A p.Trp104* 1 0.02
331 c.315dupA p.Arg106fs 1 0.02
332 c.316C>G p.Arg106Gly 5 0.11
333 c.316C>T p.Arg106Trp 132 2.77
334 c.317G>T p.Arg106Leu 1 0.02
335 c.317G>A p.Arg106Gln 21 0.44
336 c.318_321dup p.Leu108fs 1 0.02
337 c.323T>A p.Leu108His 1 0.02
338 c.326dupA p.Gln110fs 1 0.02
339 c.331A>G p.Arg111Gly 1 0.02
340 c.341G>C p.Gly114Ala 1 0.02
341 c.343_1282del p.Arg115_Glu394del 1 0.02
342 c.345delC p.Ser116fs 1 0.02
343 c.358T>G p.Tyr120Asp 1 0.02
344 c.362A>G p.Asp121Gly 1 0.02
345 c.364G>A p.Val122Met 1 0.02
346 c.365T>C p.Val122Ala 3 0.06
347 c.372G>C p.Leu124Phe 2 0.04
348 c.372G>T p.Leu124Phe 1 0.02
349 c.375delC p.Asn126fs 2 0.04
350 c.375C>A p.Ile125Ile 8 0.17
351 c.377+18C>G intronic variation 1 0.02
352 c.377+11G>C intronic variation 1 0.02
353 c.377A>G p.Asn126Ser 1 0.02
354 c.377A>T p.Asn126Ile 1 0.02
355 c.377+266T>C intronic variation 1 0.02
356 c.377+1G>A intronic variation 1 0.02
357 c.377+28A>G intronic variation 1 0.02
358 c.377+95G>A intronic variation 2 0.04
359 c.377+30G>A intronic variation 1 0.02
360 c.377+1G>T intronic variation 1 0.02
361 c.377+2T>G intronic variation 1 0.02
362 c.377+24C>A intronic variation 3 0.06
363 c.377+6_377+9del intronic variation 1 0.02
364 c.377+22C>G intronic variation 19 0.4
365 c.378-241C>T intronic variation 1 0.02
366 c.378-3C>G intronic variation 3 0.06
367 c.378-?_1170+?del p.Asn126fs 1 0.02
368 c.378-?_*?del p.Asn126fs 11 0.23
369 c.378-3_383del9 p.Asn126Lysfs*11 1 0.02
370 c.378-61C>G intronic variation 1 0.02
371 c.378-2A>G intronic variation 4 0.08
372 c.378-109A>G intronic variation 3 0.06
373 c.378-2A>T intronic variation 1 0.02
374 c.378-14G>A intronic variation 1 0.02
375 c.378-70C>G intronic variation 1 0.02
376 c.378-74C>T intronic variation 29 0.61
377 c.378-65C>G 1 0.02
378 c.378-2A>C intronic variation 3 0.06
379 c.378-17delT intronic variation 90 1.89
380 c.378-?_1337+?del p.Asn126fs 2 0.04
381 c.378-?_1185+?del p.Asn126fs 1 0.02
382 c.380C>T p.Pro127Leu 5 0.11
383 c.382_1189del808 p.Gln128fs 1 0.02
384 c.382C>T p.Gln128* 2 0.04
385 c.383A>C p.Gln128Pro 1 0.02
386 c.386G>T p.Gly129Val 2 0.04
387 c.390dupA p.Ala131fs 1 0.02
388 c.392C>A p.Ala131Asp 2 0.04
389 c.393C>G p.Ala131Ala 4 0.08
390 c.397C>T p.Arg133Cys 217 4.56
391 c.397C>G p.Arg133Gly 2 0.04
392 c.398G>T p.Arg133Leu 1 0.02
393 c.398G>C p.Arg133Pro 1 0.02
394 c.398G>A p.Arg133His 8 0.17
395 c.400T>C p.Ser134Pro 1 0.02
396 c.401C>T p.Ser134Phe 5 0.11
397 c.401C>G p.Ser134Cys 21 0.44
398 c.403A>G p.Lys135Glu 8 0.17
399 c.409_1158del p.Glu137_Leu386del 1 0.02
400 c.410A>G p.Glu137Gly 1 0.02
401 c.411delG p.Glu137fs 1 0.02
402 c.413T>C p.Leu138Ser 1 0.02
403 c.413T>A p.Leu138* 1 0.02
404 c.419C>T p.Ala140Val 29 0.61
405 c.420delG p.Tyr141fs 1 0.02
406 c.422A>G p.Tyr141Cys 5 0.11
407 c.422dupA p.Tyr141* 1 0.02
408 c.423C>G p.Tyr141* 16 0.34
409 c.426C>T p.Phe142Phe 8 0.17
410 c.428_429insT p.Glu143fs 1 0.02
411 c.430A>T p.Lys144* 2 0.04
412 c.431delA p.Lys144fs 1 0.02
413 c.431A>G p.Lys144Arg 1 0.02
414 c.439G>A p.Asp147Asn 1 0.02
415 c.439delG p.Asp147fs 1 0.02
416 c.451delG p.Asp151fs 1 0.02
417 c.452A>G p.Asp151Gly 2 0.04
418 c.454C>G p.Pro152Ala 2 0.04
419 c.455C>G p.Pro152Arg 71 1.49
420 c.463T>A p.Phe155Ile 1 0.02
421 c.464T>G p.Phe155Cys 2 0.04
422 c.464T>C p.Phe155Ser 2 0.04
423 c.467A>G p.Asp156Gly 2 0.04
424 c.467A>C p.Asp156Ala 1 0.02
425 c.468C>G p.Asp156Glu 15 0.32
426 c.469T>A p.Phe157Ile 3 0.06
427 c.470dupT p.Thr158fs 1 0.02
428 c.470_471delTC p.Phe157fs 1 0.02
429 c.471C>G p.Phe157Leu 1 0.02
430 c.472A>G p.Thr158Ala 2 0.04
431 c.473C>T p.Thr158Met 419 8.81
432 c.474G>A p.Thr158Thr 3 0.06
433 c.475delG p.Val159* 1 0.02
434 c.478dupA p.Thr160fs 1 0.02
435 c.479C>G p.Thr160Ser 2 0.04
436 c.480_481delTG p.Gly161fs 1 0.02
437 c.480delT p.Arg162fs 1 0.02
438 c.481_987del507ins8 p.Gly161fs 1 0.02
439 c.481G>T p.Gly161Trp 1 0.02
440 c.482G>A p.Gly161Glu 1 0.02
441 c.482G>T p.Gly161Val 2 0.04
442 c.483delG p.Arg162fs 1 0.02
443 c.484dupA p.Arg162fs 1 0.02
444 c.488_489delGG p.Gly163fs 2 0.04
445 c.488_1189del702 p.Gly163_Ser396del 1 0.02
446 c.495delC p.Ser166fs 1 0.02
447 c.499C>T p.Arg167Trp 5 0.11
448 c.502C>T p.Arg168* 363 7.63
449 c.506_507dupAG p.Gln170fs 1 0.02
450 c.508C>T p.Gln170* 7 0.15
451 c.514C>T p.Pro172Ser 2 0.04
452 c.515C>T p.Pro172Leu 2 0.04
453 c.517C>G p.Pro173Ala 1 0.02
454 c.518C>G p.Pro173Arg 4 0.08
455 c.523A>T p.Lys175* 1 0.02
456 c.527C>G p.Pro176Arg 7 0.15
457 c.529A>T p.Lys177* 1 0.02
458 c.531delA p.Lys177fs 1 0.02
459 c.535C>T p.Pro179Ser 1 0.02
460 c.538A>T p.Lys180* 1 0.02
461 c.542C>T p.Ala181Val 2 0.04
462 c.543_544delTC p.Pro182fs 1 0.02
463 c.547G>C p.Gly183Arg 2 0.04
464 c.554delG p.Gly185fs 1 0.02
465 c.566dupG p.Arg190fs 1 0.02
466 c.566delG p.Gly189fs 1 0.02
467 c.567dupA p.Arg190fs 2 0.04
468 c.573delC p.Ser194Alafs*16 1 0.02
469 c.573C>T p.Pro191Pro 1 0.02
470 c.574A>T p.Lys192* 1 0.02
471 c.582C>T p.Ser194Ser 38 0.8
472 c.585C>T p.Gly195Gly 1 0.02
473 c.587C>G p.Thr196Ser 14 0.29
474 c.590C>T p.Thr197Met 14 0.29
475 c.591G>A p.Thr197Thr 1 0.02
476 c.592A>T p.Arg198* 2 0.04
477 c.596C>A p.Pro199His 1 0.02
478 c.598A>T p.Lys200* 2 0.04
479 c.601dupG p.Ala201fs 1 0.02
480 c.602C>T p.Ala201Val 29 0.61
481 c.603G>A p.Ala201Ala 1 0.02
482 c.605G>A p.Ala202His 1 0.02
483 c.608C>T p.Thr203Met 15 0.32
484 c.608_609insA p.Ser204fs 1 0.02
485 c.609G>A p.Thr203Thr 1 0.02
486 c.611C>G p.Ser204* 5 0.11
487 c.611_612delinsAG p.Ser204* 1 0.02
488 c.611C>A p.Ser204* 1 0.02
489 c.613G>T p.Glu205* 2 0.04
490 c.616_1122del507 p.Gly206_Glu374del 1 0.02
491 c.617G>C p.Gly206Ala 1 0.02
492 c.617delG p.Gly206fs 1 0.02
493 c.620dupT p.Gln208fs 1 0.02
494 c.622C>T p.Gln208* 1 0.02
495 c.627G>A p.Val209Val 1 0.02
496 c.629A>T p.Lys210Ile 1 0.02
497 c.631-?_657+?del p.? 1 0.02
498 c.631-?_657+?dup p.? 1 0.02
499 c.633G>C p.Arg211Ser 3 0.06
500 c.635_655del21 p.Val212_Lys219delinsGlu 1 0.02
501 MECP2_e1: c.638C>T 1 0.02
502 c.651_652delTG p.Gly218fs 2 0.04
503 MECP2_e1: c.653G>C 1 0.02
504 c.654_657delGAAG p.Lys219fs 1 0.02
505 c.660C>T p.Leu220Leu 1 0.02
506 c.666C>G p.Val222Val 3 0.06
507 c.667A>T p.Lys223* 1 0.02
508 c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 1 0.02
509 c.673C>A p.Pro225Thr 1 0.02
510 c.674C>G p.Pro225Arg 20 0.42
511 c.674C>T p.Pro225Leu 2 0.04
512 c.676_677insA p.Phe226fs 2 0.04
513 c.677_678insA p.Phe226fs 1 0.02
514 c.679C>T p.Gln227* 1 0.02
515 c.679C>G p.Gln227Glu 1 0.02
516 c.683C>G p.Thr228Ser 7 0.15
517 c.686C>T p.Ser229Leu 6 0.13
518 c.686C>A p.Ser229* 1 0.02
519 c.689_756del68 p.Pro230fs 1 0.02
520 c.690A>C p.Pro230Pro 2 0.04
521 c.695dupG p.Lys233fs 2 0.04
522 c.695G>C p.Gly232Ala 17 0.36
523 c.695delG p.Gly232fs 5 0.11
524 c.696delC p.Lys233fs 5 0.11
525 c.710delG p.Gly237fs 13 0.27
526 c.710dupG p.Gly238fs 7 0.15
527 c.711_1269del559 p.Gly238fs 1 0.02
528 c.715delG p.Ala239fs 1 0.02
529 c.720C>G p.Thr240Thr 2 0.04
530 c.720dupC p.Thr241fs 1 0.02
531 c.720C>T p.Thr240Thr 2 0.04
532 c.730C>T p.Gln244* 4 0.08
533 c.731_1166del436 p.Gln244fs 1 0.02
534 c.734_759del26 p.Val245fs 1 0.02
535 c.736_743delinsGTG p.Met246fs 1 0.02
536 c.736_737insAT p.Met246fs 1 0.02
537 c.739delG p.Val247fs 1 0.02
538 c.747_751dup5 p.Pro251fs 1 0.02
539 c.748_749insT p.Arg250fs 1 0.02
540 c.748_753del6insGGCCG p.Arg250fs 1 0.02
541 c.748dupC p.Arg250fs 2 0.04
542 c.749G>A p.Arg250His 2 0.04
543 c.750C>T p.Arg250Arg 3 0.06
544 c.750_750delCinsTCAGGAAGCTT p.Pro251fs 1 0.02
545 c.752C>T p.Pro251Leu 1 0.02
546 c.752C>G 1 0.02
547 c.752_753dupCC p.Gly252fs 3 0.06
548 c.753C>T p.Pro251Pro 3 0.06
549 c.753delC p.Gly252fs 6 0.13
550 c.753_754dup p.Gly252fs 1 0.02
551 c.753dupC p.Gly252fs 4 0.08
552 c.755delG p.Gly252fs 1 0.02
553 c.755dupG p.Arg253fs 2 0.04
554 c.756_763dup p.Arg255fs 1 0.02
555 c.756_759delCAGG p.Arg253fs 2 0.04
556 c.760A>T p.Lys254* 1 0.02
557 c.763C>T p.Arg255* 318 6.68
558 c.763_1383del621ins15 p.Arg255_Ile461delins5 1 0.02
559 c.764_765ins8 p.Arg255fs 1 0.02
560 c.766_779dup14 p.Asp260fs 1 0.02
561 c.766A>T p.Lys256* 1 0.02
562 c.767_1175del409 p.Lys256Serfs*17 1 0.02
563 c.777C>T p.Ala259Ala 6 0.13
564 c.784C>T p.Gln262* 2 0.04
565 c.785_818del34 p.Gln262fs 1 0.02
566 c.792_793delTC p.Pro265fs 1 0.02
567 c.795C>G p.Pro265Pro 1 0.02
568 c.799A>T p.Lys267* 1 0.02
569 c.806delG p.Gly269fs 63 1.32
570 c.807_*125del780 p.Arg270_Ser486delinsGln 1 0.02
571 c.808delC p.Arg270fs 20 0.42
572 c.808C>T p.Arg270* 276 5.8
573 c.810_813delAAAG p.Lys271fs 1 0.02
574 c.812_818del7 p.Lys271fs 1 0.02
575 c.815C>T p.Pro272Leu 8 0.17
576 c.816_832del17 p.Gly273fs 1 0.02
577 c.819G>T p.Gly273Gly 10 0.21
578 c.819delG p.Ser274fs 1 0.02
579 c.820_823dupAGTG p.Val275Glufs*57 1 0.02
580 c.820_1153del334ins67 uncertain 1 0.02
581 c.822_1184del363 p.Val275_Ser396del 1 0.02
582 c.829delG p.Ala277fs 1 0.02
583 c.830delC p.Ala277fs 1 0.02
584 c.830_831ins23 p.Ala277fs 1 0.02
585 c.832G>A p.Ala278Thr 1 0.02
586 c.834_939del106 p.Ala279fs 1 0.02
587 c.834C>T p.Ala278Ala 7 0.15
588 c.836C>T p.Ala279Val 3 0.06
589 c.840C>T p.Ala280Ala 4 0.08
590 c.842_843insT p.Glu282fs 1 0.02
591 c.843C>T p.Ala281Ala 5 0.11
592 c.849_1236del388 p.Lys284fs 1 0.02
593 c.849C>G p.Ala283Ala 1 0.02
594 c.850A>G p.Lys284Glu 1 0.02
595 c.851_1188del338 p.Lys284fs 1 0.02
596 c.854dupA p.Lys286fs 1 0.02
597 c.855_859del5ins12 p.Ala287Lysfs*46 1 0.02
598 c.856_859delAAAG p.Lys286fs 10 0.21
599 c.857_858dupAA p.Ala287Lysfs*3 1 0.02
600 c.857A>G p.Lys286Arg 1 0.02
601 c.859G>C p.Ala287Pro 1 0.02
602 c.863_881del19 p.Val288fs 1 0.02
603 c.864dupG p.Lys289fs 1 0.02
604 c.865A>T p.Lys289* 1 0.02
605 c.865_866delAA p.Lys289fs 1 0.02
606 c.867_1223delinsA p.Ser291Glnfs*26 1 0.02
607 c.869_880delinsCACA p.Glu290Alafs*38 1 0.02
608 c.869dupA p.Ser291fs 1 0.02
609 c.871_1044del p.Ile293_Ser350del 1 0.02
610 c.871T>G p.Ser291Ala 1 0.02
611 c.874_875insA p.Ser292fs 1 0.02
612 c.880_884del5 p.Arg294fs 1 0.02
613 c.880C>T p.Arg294* 238 5
614 c.881_902del22 p.Arg294fs 1 0.02
615 c.881G>C p.Arg294Pro 2 0.04
616 c.883delT p.Ser295fs 1 0.02
617 c.889C>T p.Gln297* 2 0.04
618 c.894_1095del202 p.Glu298fs 1 0.02
619 [c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] 1 0.02
620 c.897C>T p.Thr299Thr 38 0.8
621 c.898G>A p.Val300Ile 3 0.06
622 c.898_904del7 p.Val300fs 1 0.02
623 c.898_1099del202 p.Val300fs 1 0.02
624 c.898delG p.Val300fs 1 0.02
625 c.898_901del p.Val300fs 1 0.02
626 c.900_908del p.Leu301_Ile303del 1 0.02
627 c.903C>T p.Leu301Leu 1 0.02
628 c.904C>G p.Pro302Ala 4 0.08
629 c.904C>T p.Pro302Ser 1 0.02
630 c.904C>A p.Pro302Thr 1 0.02
631 c.905C>G p.Pro302Arg 15 0.32
632 c.905C>A p.Pro302His 3 0.06
633 c.905C>T p.Pro302Leu 6 0.13
634 c.906C>G p.Pro302Pro 1 0.02
635 c.906_1138del233insAC p.Ile303_Val380delinsLeu 1 0.02
636 c.906delC p.Ile303fs 1 0.02
637 c.908T>G p.Ile303Ser 1 0.02
638 c.909C>G p.Ile303Met 2 0.04
639 c.910A>G p.Lys304Glu 2 0.04
640 c.911A>G p.Lys304Arg 1 0.02
641 c.913A>G p.Lys305Glu 1 0.02
642 c.914A>C p.Lys305Thr 1 0.02
643 c.914A>G p.Lys305Arg 4 0.08
644 c.914_1172del259 p.Lys305fs 1 0.02
645 c.916C>T p.Arg306Cys 246 5.17
646 c.917G>A p.Arg306His 19 0.4
647 c.925C>T p.Arg309Trp 5 0.11
648 c.932C>T p.Thr311Met 4 0.08
649 c.942C>T p.Ile314Ile 2 0.04
650 c.943_1140del198ins6 p.Glu315_Val380delins2 1 0.02
651 c.948C>G p.Val316Val 3 0.06
652 c.953A>C p.Glu318Ala 2 0.04
653 c.961A>G p.Lys321Glu 1 0.02
654 c.962_1267delinsG p.Lys321Serfs*13 1 0.02
655 c.964C>T p.Pro322Ser 2 0.04
656 c.964C>G p.Pro322Ala 7 0.15
657 c.965C>T p.Pro322Leu 9 0.19
658 c.982C>G p.Leu328Val 1 0.02
659 c.984C>A p.Leu328Leu 2 0.04
660 c.984C>T p.Leu328Leu 6 0.13
661 c.985G>A p.Gly329Ser 2 0.04
662 c.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs 1 0.02
663 c.992A>G p.Lys331Arg 2 0.04
664 c.994_1346del353 p.Ser332fs 1 0.02
665 c.994_998delAGCGG p.Ser332fs 1 0.02
666 c.996C>T p.Ser332Ser 3 0.06
667 c.999G>T p.Gly333Gly 1 0.02
668 c.1009_1027del19 p.Lys337fs 1 0.02
669 c.1012_1193del182 p.Thr338fs 1 0.02
670 c.1012_1202del191 p.Thr338fs 1 0.02
671 c.1015T>C p.Cys339Arg 1 0.02
672 c.1017-?_1397+?del p.? 1 0.02
673 c.1023_*14472del14911 p.Ser341fs 1 0.02
674 c.1028_1158del p.Gly343Alafs*6 1 0.02
675 c.1030_1195del166insGT p.Arg344fs 1 0.02
676 c.1030C>T p.Arg344Trp 3 0.06
677 c.1030C>G p.Arg344Gly 1 0.02
678 c.1035A>G p.Lys345Lys 13 0.27
679 c.1038C>G p.Ser346Arg 1 0.02
680 c.1039_1195del157insGT p.Lys347fs 1 0.02
681 c.1041_*29del450 p.Lys347_Ser486delins17 1 0.02
682 c.1043_1173del131insTG p.Glu348_Pro391delinsVal 1 0.02
683 c.1044-?_1442+?del p.? 2 0.04
684 c.1046_1206del161 p.Ser349fs 1 0.02
685 c.1048_1199del152 p.Ser350fs 1 0.02
686 c.1048_1095del48 p.Ser350_Glu365del 1 0.02
687 c.1052_1200del149 p.Pro351fs 1 0.02
688 c.1053C>G p.Pro351Pro 1 0.02
689 c.1053_1156del104 p.Lys352fs 1 0.02
690 c.1057_1219del163 p.Gly353fs 2 0.04
691 c.1061_1156del96 p.Arg352_Pro385del 1 0.02
692 c.1061G>A p.Arg354His 1 0.02
693 c.1061G>T p.Arg354Leu 1 0.02
694 c.1065C>T p.Ser355Ser 1 0.02
695 c.1065C>A p.Ser355Arg 1 0.02
696 c.1069_1071delAGC p.Ser357del 1 0.02
697 c.1071C>T p.Ser357Ser 2 0.04
698 c.1072G>A p.Ala358Thr 5 0.11
699 c.1075T>C p.Ser359Pro 7 0.15
700 c.1078_*2524del2908 p.Ser360fs 1 0.02
701 c.1079C>A p.Ser360* 1 0.02
702 c.1081C>G p.Pro361Ala 4 0.08
703 c.1085_1197del113 p.Pro362fs 1 0.02
704 c.1087A>T p.Lys363* 2 0.04
705 c.1093_1095delGAG p.Glu365del 1 0.02
706 c.1096_1201del106 p.His366fs 1 0.02
707 c.1097_*13del378 p.His366_Ser486delins22 1 0.02
708 c.1097_1203del107 p.His366fs 1 0.02
709 c.1099_1118del20 p.His367fs 1 0.02
710 c.1101_1201del101 p.His367fs 2 0.04
711 c.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs 1 0.02
712 c.1104_1106del3 p.His372del 1 0.02
713 c.1105_1225del121 p.His369fs 1 0.02
714 c.1105delC p.His369fs 2 0.04
715 c.1114C>T p.His372Tyr 1 0.02
716 c.1115_1326del212 p.His372fs 1 0.02
717 c.1115_1201del87 p.His372_Ser401delinsArg 1 0.02
718 c.1116_1201del86 p.His372fs 3 0.06
719 c.1117_1203del87 p.Ser373_Ser401del 1 0.02
720 c.1118C>G p.Ser373* 1 0.02
721 c.1121_1191del71 p.Glu374fs 1 0.02
722 c.1123_1202del80 p.Ser375fs 1 0.02
723 c.1123_1191del69 p.Ser375_Glu397del 1 0.02
724 c.1126C>T p.Pro376Ser 17 0.36
725 c.1127_1137del11 p.Pro376fs 2 0.04
726 c.1127C>G p.Pro376Arg 1 0.02
727 c.1127_1179del53 p.Pro376fs 4 0.08
728 c.1128_1179del52 p.Lys377fs 1 0.02
729 c.1129_*568delinsCCGTGG p.Lys377fs 1 0.02
730 c.1129_1193del65 p.Lys377fs 1 0.02
731 c.1132G>T p.Ala378Ser 2 0.04
732 c.1132_1202del71 p.Ala378fs 2 0.04
733 c.1133C>G p.Ala378Gly 2 0.04
734 c.1133C>T p.Ala378Val 5 0.11
735 c.1135_1142delCCCGTGCC p.Pro379fs 1 0.02
736 c.1135_1142del8 p.Pro379fs 2 0.04
737 c.1137C>T p.Pro379Pro 1 0.02
738 c.1138G>A p.Val380Met 1 0.02
739 c.1141C>G p.Pro381Ala 2 0.04
740 c.1141C>T p.Pro381Ser 1 0.02
741 c.1142_1227del86 p.Pro381fs 3 0.06
742 c.1145_1194del50 p.Leu382fs 2 0.04
743 c.1147_1174del28 p.Leu383fs 1 0.02
744 c.1150_1192del43 p.Pro384fs 1 0.02
745 c.1151_1191del41 p.Pro384fs 1 0.02
746 c.1151C>T p.Pro384Leu 3 0.06
747 c.1151_1188del38 p.Pro384fs 2 0.04
748 c.1151_1183del33 p.Pro384_Ser395delinsArg 1 0.02
749 c.1152_1155del4 p.Pro385fs 1 0.02
750 c.1152_1195del44 p.Pro385fs 4 0.08
751 c.1152_*29del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu 1 0.02
752 c.1152_1292del141 p.Pro385_Lys431del 1 0.02
753 c.1153_1190del38 p.Pro385fs 1 0.02
754 c.1153_1188del36 p.Pro385_Ser396del 1 0.02
755 c.1154_1185del32 p.Pro385fs 1 0.02
756 c.1154_1197del44 p.Pro385fs 6 0.13
757 c.1155_1166del12 p.Leu386_Pro389del 1 0.02
758 c.1155_1183del29 p.Pro387fs 1 0.02
759 c.1155_1200del46 p.Leu386fs 3 0.06
760 c.1156_1172del17 p.Leu386* 2 0.04
761 c.1156_1197del42 p.Leu386_Pro399del 3 0.06
762 c.1156_1200del45 p.Leu386_Thr400del 1 0.02
763 c.1156_1157dupCT p.Pro387fs 1 0.02
764 c.1157_*944del1249 p.Leu386fs 1 0.02
765 c.1157_1184del28 p.Leu386fs 1 0.02
766 c.1157_1191del35 p.Leu386fs 5 0.11
767 c.1157_1192del36 p.Leu386_Asp398delinsHis 1 0.02
768 c.1157_1187del31 p.Leu386fs 2 0.04
769 c.1157_1188del32 p.Leu386fs 12 0.25
770 c.1157_1197del41 p.Leu386fs 47 0.99
771 c.1157_1200del44 p.Leu386fs 30 0.63
772 c.1157_1199del43 p.Leu386fs 2 0.04
773 c.1158_1186del29 p.Pro387fs 1 0.02
774 c.1158_1198del41 p.Pro387fs 2 0.04
775 c.1158_1200del43 p.Pro387fs 2 0.04
776 c.1158_1167del10 p.Pro387fs 2 0.04
777 c.1158_1186del29insCCA p.Pro387Hisfs*9 1 0.02
778 c.1159_1458del300 p.Pro387* 1 0.02
779 c.1159_1210del52 p.Pro387fs 1 0.02
780 c.1159_1160ins300 p.Pro387_Pro388ins100 1 0.02
781 c.1159_1160delCCinsT p.Pro387fs 4 0.08
782 c.1159_1201del43 p.Pro387fs 1 0.02
783 c.1160_1166del7 p.Pro387fs 2 0.04
784 c.1160_1185del26 p.Pro387fs 3 0.06
785 c.1160_1180del21 p.Pro387_Glu394delinsGln 2 0.04
786 c.1160_1200del41 p.Pro387fs 2 0.04
787 c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp 1 0.02
788 c.1160_1188del29 p.Pro387fs 1 0.02
789 c.1160C>T p.Pro387Leu 1 0.02
790 c.1161C>T p.Pro387Pro 2 0.04
791 c.1161_1400del240 p.Pro388_Pro467del 5 0.11
792 c.1161_1205del45insA p.Pro389* 1 0.02
793 c.1161_1166del6 p.Pro390_Pro391del 1 0.02
794 c.1162_1179del18 p.Pro388_Pro393del 2 0.04
795 c.1162_1191del30 p.Pro388_Glu397del 2 0.04
796 c.1162_1163delinsTA p.Pro388* 1 0.02
797 c.1162_1163delCC p.Pro388fs 1 0.02
798 c.1162C>T p.Pro388Ser 2 0.04
799 c.1163_*39del338 p.Pro388fs 1 0.02
800 c.1163_1179del17 p.Pro388fs 2 0.04
801 c.1163_1216del54 p.Pro388_Pro405del 1 0.02
802 c.1163C>T p.Pro388Leu 3 0.06
803 c.1163_1188del26 p.Pro388fs 11 0.23
804 c.1163_1201del39 p.Pro388_Ser401delinsArg 1 0.02
805 c.1163_1197del35 p.Pro388fs 5 0.11
806 c.1163_1200del38 p.Pro388Glnfs*4 1 0.02
807 c.1164_1208del45 p.Pro389_Pro403del 2 0.04
808 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* 2 0.04
809 c.1164delA p.Pro389fs 1 0.02
810 c.1164_1207del44 p.Pro389* 48 1.01
811 c.1164_1206del43 p.Pro389fs 4 0.08
812 c.1164_1194del31 p.Pro391fs 1 0.02
813 c.1164_1172del9 p.Pro389_Pro391del 1 0.02
814 c.1165_1190del26 p.Pro389fs 3 0.06
815 c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 1 0.02
816 c.1167_1200del34 p.Pro390fs 1 0.02
817 c.1168_1173del6 p.Pro390_Pro391del 12 0.25
818 c.1169-?_1170+?del p.? 1 0.02
819 c.1169-?_*?del p.Pro390fs 1 0.02
820 c.1169-?_1397+?del p.? 1 0.02
821 c.1170_1207del38 p.Pro391* 1 0.02
822 c.1173_1207del35 p.Glu392* 1 0.02
823 c.1176G>A p.Glu392Glu 1 0.02
824 c.1180_1181insT p.Glu394Valfs*11 1 0.02
825 c.1180G>A p.Glu394Lys 4 0.08
826 c.1189G>A p.Glu397Lys 48 1.01
827 c.1189G>T p.Glu397* 1 0.02
828 c.1190dupA p.Asp398fs 1 0.02
829 c.1193A>C 1 0.02
830 c.1194_1195insT p.Pro399fs 3 0.06
831 c.1196C>T p.Pro399Leu 4 0.08
832 c.1196_1266del71 p.Pro399fs 1 0.02
833 c.1197C>T p.Pro399Pro 8 0.17
834 c.1197dupC p.Thr400fs 3 0.06
835 c.1200dupC p.Ser401fs 1 0.02
836 c.1202G>A p.Ser401Asn 4 0.08
837 c.1202dupG p.Ser401fs 1 0.02
838 c.1205C>T p.Pro402Leu 5 0.11
839 c.1206C>T p.Pro402Pro 5 0.11
840 c.1210G>A p.Glu404Lys 1 0.02
841 c.1214C>T p.Pro405Leu 4 0.08
842 c.1214_1230del17 p.Pro405fs 1 0.02
843 c.1215C>T p.Pro405Pro 3 0.06
844 c.1216C>T p.Gln406* 6 0.13
845 c.1223_1265del43 p.Leu408fs 1 0.02
846 MECP2_e1: c.1225G>A 1 0.02
847 c.1229G>A p.Ser410Asn 1 0.02
848 c.1233_1243del11 p.Ser411fs 2 0.04
849 c.1233C>T p.Ser411Ser 30 0.63
850 c.1234G>A p.Val412Ile 5 0.11
851 c.1235_1260del26 p.Val412fs 1 0.02
852 c.1239C>T p.Cys413Cys 2 0.04
853 c.1250A>T p.Lys417Met 3 0.06
854 c.1255C>T 1 0.02
855 c.1265_1289del25insAGCGGCCG p.Gly422fs 1 0.02
856 c.1266C>T p.Gly422Gly 4 0.08
857 c.1271_1416del146 p.Leu424fs 1 0.02
858 c.1276_*113del299ins3 p.Ser426fs 1 0.02
859 c.1278C>T p.Ser426Ser 1 0.02
860 c.1282G>A p.Gly428Ser 7 0.15
861 c.1284C>T p.Gly428Gly 1 0.02
862 c.1288C>T p.Pro430Ser 5 0.11
863 c.1308_1309delTC p.Gln437fs 2 0.04
864 c.1315G>A p.Ala439Thr 7 0.15
865 c.1316C>T 1 0.02
866 c.1320dupT p.Ala441fs 1 0.02
867 c.1324_1364del41 p.Thr442fs 2 0.04
868 c.1324A>G p.Thr442Ala 1 0.02
869 c.1326C>T p.Thr442Thr 4 0.08
870 c.1327G>A p.Ala443Thr 2 0.04
871 c.1330_1342del13 p.Ala444fs 1 0.02
872 c.1330G>A p.Ala444Thr 14 0.29
873 c.1335G>A p.Thr445Thr 10 0.21
874 c.1336-?_*?del p.? 1 0.02
875 c.1338_1354del p.Ala447fs 1 0.02
876 c.1339G>A p.Ala447Thr 5 0.11
877 c.1340C>T p.Ala447Val 1 0.02
878 c.1357C>T p.Arg453* 2 0.04
879 c.1358G>A p.Arg453Gln 2 0.04
880 c.1363G>T p.Glu455* 1 0.02
881 c.1364_1365insC p.Glu455fs 1 0.02
882 c.1372C>T p.Arg458Cys 2 0.04
883 c.1373G>A p.Arg458His 1 0.02
884 c.1396-?_1397+?del p.? 2 0.04
885 c.1403_1408del6 p.Arg468_Pro469del 1 0.02
886 c.1404G>A p.Arg468Arg 1 0.02
887 c.1408_1411del4insTG p.Asn470Trpfs*16 1 0.02
888 c.1415_1416delAG p.Glu472fs 1 0.02
889 c.1430G>C p.Ser477Thr 3 0.06
890 c.1433G>A p.Arg478Gln 1 0.02
891 c.1436C>T p.Thr479Met 3 0.06
892 c.1437G>A p.Thr479Thr 1 0.02
893 c.1438C>T p.Pro480Ser 3 0.06
894 c.1441G>A p.Val481Met 2 0.04
895 c.1446C>T p.Thr482Thr 1 0.02
896 c.1449G>A 1 0.02
897 c.1450_1453delAGAG p.Arg484fs 1 0.02
898 c.1450_*12del24 p.Val485_Ser486delins21 1 0.02
899 c.1451G>C p.Arg484Thr 1 0.02
900 c.1452_1453dup p.Val485fs 1 0.02
901 MECP2_e1: c.1453G>C 1 0.02
902 c.1454_1457del4 p.Val485fs 2 0.04
903 c.1455_1456dupTA p.Ser486fs 1 0.02
904 c.1461A>C p.*487Cysext*27 1 0.02
905 c.1461A>G p.*487Trpext*27 1 0.02
906 Records