Summary of CDKL5 mutations: By Frequency | Systematic Name | Protein change


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Summary by Systematic Name


No: Systematic Name Amino acid change Frequency Percentage
1 c.-440G>T p.= 1 0.17
2 c.-426C>G p.= 6 1.03
3 c.-391G>T p.= 8 1.37
4 c.-265C>G p.= 2 0.34
5 c.-253-?_99+?del p.Met1? 3 0.51
6 c.-253-?_*1085del p.Met1? 12 2.05
7 c.-253-?_-163+?del p.0? 2 0.34
8 c.-253-?_-162-27968del p.? 1 0.17
9 c.-253-?_825+?del p.Met1? 1 0.17
10 c.-253-?_64+?del p.Met1? 1 0.17
11 c.-253-?_977+?del p.Met1? 1 0.17
12 c.-189C>T p.= 1 0.17
13 c.-162-?_99+?del p.Met1? 2 0.34
14 c.-162-2A>G p.Met1? 1 0.17
15 c.-162-?_64+?del p.Met1? 1 0.17
16 c.-162-?_99+? p.? 1 0.17
17 c.-162-?_*1085del p.Met1? 1 0.17
18 c.-162-?_145+?del p.Met1? 1 0.17
19 c.[=/518C>A] p.[=/Ala173Asp] 1 0.17
20 c.[=/-253-?_99+?del] p.[=/Met1?] 1 0.17
21 c.*130_*131delinsAT p.= 4 0.68
22 c.[=/99+5G>A] p.[=/Ala23Asnfs*3] 1 0.17
23 c.*15C>T p.= 1 0.17
24 c.[1238C>G(;)1400A>C] p.[Ser413*(;)His467Pro] 1 0.17
25 c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342] p.[=/Val793Thrfs*22/Ser833Thrfs*22] 1 0.17
26 c.[2500C>T;2995G>A] p.Gln834* 1 0.17
27 c.[404-53T>C;3003C>T;3084G>A] p.= 2 0.34
28 c.[3003C>T;3084G>A] p.= 2 0.34
29 c.[1675C>T];[=] p.[Arg559*];[=] 1 0.17
30 c.[145+17A>G;3003C>T;3084G>A] p.= 5 0.85
31 c.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] 1 0.17
32 c.[=/-253-?_2276+?del] p.[=/Met1?] 1 0.17
33 c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] 1 0.17
34 c.[=/2420_2430del] p.[=/Ser807Cysfs*2] 1 0.17
35 c.38T>C p.Phe13Ser 1 0.17
36 c.39delT p.Phe13Leufs*7 1 0.17
37 c.58G>C p.Gly20Arg 1 0.17
38 c.59G>A p.Gly20Asp 1 0.17
39 c.62A>G p.Glu21Gly 1 0.17
40 c.64+2delT p.? 1 0.17
41 c.64+2T>C p.? 1 0.17
42 c.64+1G>A p.? 1 0.17
43 c.64+26G>A p.= 2 0.34
44 c.65G>T p.Gly22Val 1 0.17
45 c.65-?_1944+?dup p.? 1 0.17
46 c.65-?_99+?del p.(Ala23Asnfs*3) 1 0.17
47 c.65dupG p.Ala23Serfs*7 1 0.17
48 c.91A>G p.Arg31Gly 1 0.17
49 c.99+34A>G p.= 2 0.34
50 c.99+29T>G p.= 1 0.17
51 c.99+5G>A p.Ala23Asnfs*3 1 0.17
52 c.99+1G>T p.Ala23Asnfs*3 1 0.17
53 c.100-?_145+?del p.(Glu34Lysfs*27) 1 0.17
54 c.100-9_100-3delCCCTTGCinsGCAGA p.Lys33dup 1 0.17
55 c.100-2A>G p.Glu34Lysfs*27 1 0.17
56 c.100-?_*1085del p.? 1 0.17
57 c.119C>T p.Ala40Val 5 0.85
58 c.125A>G p.Lys42Arg 1 0.17
59 c.145+4AT(11_13) p.= 4 0.68
60 c.145+4AT[15] p.= 1 0.17
61 c.145+4AT[13] p.= 6 1.03
62 c.145+2T>C p.? 2 0.34
63 c.146-6T>G p.Glu49Valfs*2 1 0.17
64 c.146-1G>A p.(=) 1 0.17
65 c.146-?_*1085del p.? 2 0.34
66 c.146-?_463+?dup p.? 1 0.17
67 c.146-?_282+?del p.Asn50Tyrfs*15 1 0.17
68 c.163_166delGAAA p.Glu55Argfs*20 2 0.34
69 c.175C>T p.Arg59* 5 0.85
70 c.183delT p.Met63Cysfs*13 3 0.51
71 c.191T>C p.Leu64Pro 1 0.17
72 c.194G>A p.Arg65Gln 2 0.34
73 c.197_198delCT p.Leu67Glnfs*23 1 0.17
74 c.199C>T p.Leu67Phe 1 0.17
75 c.207_213del7 p.Glu70Leufs*4 1 0.17
76 c.211A>G p.Asn71Asp 1 0.17
77 c.214_216del p.Ile72del 4 0.68
78 c.215T>C p.Ile72Thr 4 0.68
79 c.215T>A p.Ile72Asn 1 0.17
80 c.216T>A p.= 1 0.17
81 c.220G>T p.Glu74* 1 0.17
82 c.229_232delGAAG p.Glu77Hisfs*35 1 0.17
83 c.234delA p.Arg80Valfs*33 1 0.17
84 c.248G>T p.Gly83Val 1 0.17
85 c.275_276insAA p.Glu93Metfs*21 1 0.17
86 c.282+3_282+6delAAGT p.(=) 2 0.34
87 c.283-99C>A p.= 1 0.17
88 c.283-43G>A p.= 1 0.17
89 c.283-3_290del11 p.Asn95Ilefs*2 2 0.34
90 c.333A>G p.= 2 0.34
91 c.351T>A p.Tyr117* 1 0.17
92 c.352C>T p.Gln118* 1 0.17
93 c.364G>A p.Ala122Thr 1 0.17
94 c.377G>A p.Cys126Tyr 1 0.17
95 c.379C>T p.His127Tyr 1 0.17
96 c.380A>G p.His127Arg 3 0.51
97 c.395T>G p.Val132Gly 4 0.68
98 c.400C>T p.Arg134* 2 0.34
99 c.403+27A>G p.= 1 0.17
100 c.403+49_403+53delTTAAG p.= 1 0.17
101 c.403+1G>A p.? 1 0.17
102 c.404A>G p.Asp135Gly 1 0.17
103 c.404-3C>A p.(=) 1 0.17
104 c.404-1G>A p.? 1 0.17
105 c.404-?_554+?del p.(Asp135Alafs*43) 1 0.17
106 c.404-1385_554+59del p.(Asp135Alafs*43) 1 0.17
107 c.404-1G>T p.? 1 0.17
108 c.405T>C p.= 2 0.34
109 c.425T>A p.Leu142* 1 0.17
110 c.428T>A p. Ile143Asn 1 0.17
111 c.433C>T p.His145Tyr 2 0.34
112 c.455G>T p.Cys152Phe 1 0.17
113 c.456_457delTG p.Cys152* 1 0.17
114 c.458A>T p. Asp153Val 1 0.17
115 c.458A>G p.Asp135_Phe154del 1 0.17
116 c.463+22T>C p.= 3 0.51
117 c.463+1G>A p.Asp135_Phe154del 1 0.17
118 c.464-2A>G p.Gly155Alafs*43 6 1.03
119 c.464-40_464-37delCTTT p.= 1 0.17
120 c.464-1G>A p.? 1 0.17
121 c.473G>C p.Arg158Pro 1 0.17
122 c.506_507delCA p.Thr169Argfs*36 4 0.68
123 c.510_511dup p.Tyr171Cysfs*58 1 0.17
124 c.513C>A p.Tyr171* 1 0.17
125 c.514G>A p.Val172Ile 1 0.17
126 c.525A>T p.Arg175Ser 3 0.51
127 c.526T>C p.Trp176Arg 1 0.17
128 c.526T>G p.Trp176Gly 1 0.17
129 c.528G>T p.Trp176Cys 1 0.17
130 c.530A>G p.Tyr177Cys 1 0.17
131 c.532C>T p.Arg178Trp 4 0.68
132 c.533G>C p.Arg178Pro 2 0.34
133 c.533G>A p.Arg178Gln 4 0.68
134 c.536C>T p. Ser179Phe 1 0.17
135 c.539C>T p.Pro180Leu 1 0.17
136 c.545T>C p.Leu182Pro 1 0.17
137 c.549dupA p.Leu184Thrfs*22 2 0.34
138 c.554+11G>A p.= 3 0.51
139 c.555-19C>G p.= 20 3.42
140 c.556_557delGC p.Ala186Serfs*19 1 0.17
141 c.573C>G p.= 2 0.34
142 c.577G>C p.Asp193His 1 0.17
143 c.578A>G p.Asp193Gly 2 0.34
144 c.587C>T p.Ser196Leu 2 0.34
145 c.593G>A p.Gly198Asp 1 0.17
146 c.595T>C p.Cys199Arg 1 0.17
147 c.607G>T p.Glu203* 1 0.17
148 c.609G>C p.Glu203Asp 1 0.17
149 c.620G>A p.Gly207Glu 2 0.34
150 c.638G>A p.Gly213Glu 1 0.17
151 c.656A>C p.Gln219Pro 1 0.17
152 c.659T>C p.Leu220Pro 1 0.17
153 c.660_664dup p.Thr222Ilefs*8 1 0.17
154 c.670C>T p.Gln224* 1 0.17
155 c.678_691conNM_003159.2:c.673_683inv p.Gly228_Pro231delinsAlaProSer 1 0.17
156 c.680T>G p.Leu227Arg 1 0.17
157 c.745-2A>G p.Phe249_Lys275del 1 0.17
158 c.745-?_977+?del p.Phe249Lysfs*16 1 0.17
159 c.745-?_825+?del p.Phe249_Lys275del 1 0.17
160 c.745-?_2276+?del p.Phe249Glufs*4 1 0.17
161 c.801_802delAT p.Asn267Lysfs*5 1 0.17
162 c.801_802delTA p.Asn267Lysfs*5 1 0.17
163 c.812T>C p.Leu271Pro 1 0.17
164 c.825+1G>T p.Phe249_Lys275del 1 0.17
165 c.825+1G>A p.Phe249_Lys275del 1 0.17
166 c.838_847del10 p.Asp281Thrfs*4 1 0.17
167 c.855A>C p.Arg285Ser 1 0.17
168 c.857dupA p.Tyr286* 1 0.17
169 c.859_868del10 p.Leu287Serfs*3 1 0.17
170 c.863C>T p.Thr288Ile 1 0.17
171 c.867dupA p.Gln290Thrfs*36 1 0.17
172 c.872G>A p.Cys291Tyr 4 0.68
173 c.884delC p.Pro295Leufs*55 1 0.17
174 c.890_891dupTT p.Gln298Phefs*53 2 0.34
175 c.902_903dupGA p.Leu302Aspfs*49 1 0.17
176 c.904C>T p.Leu302Phe 1 0.17
177 c.915T>C p.= 1 0.17
178 c.942delA p.Lys314Asnfs*36 1 0.17
179 c.964dupA p.Thr322Asnfs*4 1 0.17
180 c.978-23T>C p.= 2 0.34
181 c.978-?_2980+?del p.Asn327Valfs*29 1 0.17
182 c.978-2A>G p.? 1 0.17
183 c.978-49_978-41del9 p.? 1 0.17
184 c.1008_1029del22 p.Ser337Argfs*6 1 0.17
185 c.1030_1031insGAC p.Lys344delinsArgGln 1 0.17
186 c.1039C>T p.Gln347* 6 1.03
187 c.1071delC p.Asp357Glufs*11 1 0.17
188 c.1079delT p.Leu360Profs*8 1 0.17
189 c.1082dupC p.Ala362Cysfs*3 1 0.17
190 c.1090G>T p.Glu364* 1 0.17
191 c.1111delC p.Ala372Leufs*121 1 0.17
192 c.1196A>C p.Asn399Thr 1 0.17
193 c.1247_1248del p.Glu416Valfs*2 1 0.17
194 c.1266C>A p.Asp422Glu 1 0.17
195 c.1278A>C p.= 1 0.17
196 c.1311dupC p.Ser438Glnfs*25 2 0.34
197 c.1330C>T p.Arg444Cys 4 0.68
198 c.1341delC p.Phe447Leufs*46 1 0.17
199 c.1371dupA p.Leu458Thrfs*5 1 0.17
200 c.1375C>T p.Gln459* 1 0.17
201 c.1382A>G p.Asn461Ser 2 0.34
202 c.1390C>T p.Gln464* 1 0.17
203 c.1400A>G p.His467Arg 2 0.34
204 c.1417dupA p.Ile473Asnfs*6 1 0.17
205 c.1431T>C p.= 2 0.34
206 c.1432_1433insT p.Arg478Metfs*17 1 0.17
207 c.1446delC p.Tyr482* 1 0.17
208 c.1455_1460delGGCCAA p.Ala486_Lys487del 2 0.34
209 c.1470_1471delGG p.Ala491Thrfs*3 1 0.17
210 c.1523T>C p.Ile508Thr 2 0.34
211 c.1547_1554del8 p.Tyr516Phefs*2 1 0.17
212 c.1550delT p.Phe517Serfs*6 1 0.17
213 c.1581del p.Thr528Profs*44 1 0.17
214 c.1612A>G p.Thr538Ala 4 0.68
215 c.1648C>T p.Arg550* 4 0.68
216 c.1671dupA p.Arg558Thrfs*9 1 0.17
217 c.1675C>T p.Arg559* 2 0.34
218 c.1684A>G p.Thr562Ala 1 0.17
219 c.1708G>T p.Glu570* 1 0.17
220 c.1741C>T p.His581Tyr 1 0.17
221 c.1767C>T p.= 1 0.17
222 c.1782T>G p.Tyr594* 1 0.17
223 c.1784dupG p.Leu596Thrfs*15 1 0.17
224 c.1790dupG p.Tyr598Leufs*13 1 0.17
225 c.1791delC p.Tyr598Thrfs*18 1 0.17
226 c.1854delC p.Asp618Glufs*3 1 0.17
227 c.1892T>C p.Ile631Thr 2 0.34
228 c.1892_1893dupTA p.Gly632* 1 0.17
229 c.1925delT p.Leu642Argfs*16 2 0.34
230 c.1942C>T p.Gln648* 1 0.17
231 c.1954C>T p.Gln652* 1 0.17
232 c.2016dupC p.Ser673Leufs*10 1 0.17
233 c.2016delC p.Ser673Leufs*111 1 0.17
234 c.2038A>T p.Lys680* 1 0.17
235 c.2045_2046delAGins18 p.Glu682Glyfs*12 1 0.17
236 c.2046+1G>A p.? 1 0.17
237 c.2046+79G>A p.= 1 0.17
238 c.2047-2A>G p.Gly683Cysfs*66 1 0.17
239 c.2047-1G>A p.Gly683Valfs*101 1 0.17
240 c.2066delC p.Pro689Hisfs*95 1 0.17
241 c.2072_2073delCT p.Ser691* 1 0.17
242 c.2105_2106delAC p.His702Profs*4 1 0.17
243 c.2152+1G>A p.? 1 0.17
244 c.2152G>A p.Val718Met 2 0.34
245 c.2152+48C>T p.= 1 0.17
246 c.2200A>G p.Thr734Ala 1 0.17
247 c.2225_2228del p.Glu742Alafs*41 1 0.17
248 c.2258_2259delAA p.Gln753Profs*10 1 0.17
249 c.2276+1G>A p.Val718_Trp759delinsGly 1 0.17
250 c.2277-2A>G p.? 1 0.17
251 c.2308C>A p.Gln770Lys 2 0.34
252 c.2325_2326delGA p.Lys776Alafs*24 1 0.17
253 c.2343delG p.Arg781Serfs*3 1 0.17
254 c.2360delA p.Lys787Argfs*16 1 0.17
255 c.2363_2367delAGAAA p.Lys788Ilefs*11 1 0.17
256 c.2372A>C p.Gln791Pro 82 14.02
257 c.2374dupA p.Thr792Asnfs*9 1 0.17
258 c.2376+1G>C p.Lys760Tyrfs*10 1 0.17
259 c.2376+1G>A p.? 1 0.17
260 c.2376+5G>A p.? 1 0.17
261 c.2376+118T>A p.= 22 3.76
262 c.2377-?_*1085del p.? 1 0.17
263 c.2377-31T>C p.= 4 0.68
264 c.2378T>C p.Val793Ala 1 0.17
265 c.2389G>A p.Asp797Asn 10 1.71
266 c.2413C>T p.Gln805* 4 0.68
267 c.2420_2430del p.Ser807Cysfs*2 2 0.34
268 c.2477-?_2713+?del p.Ser833Thrfs*22 2 0.34
269 c.2494C>T p.Gln832* 1 0.17
270 c.2497-?_*1085del p.? 1 0.17
271 c.2497-?_2713+?del p.Ser855Thrfs*22 1 0.17
272 c.2500C>T p.Gln834* 1 0.17
273 c.2504delC p.Pro835Hisfs*2 1 0.17
274 c.2529delA p.Leu843Phefs*20 1 0.17
275 c.2530delC p.His844Ilefs*19 1 0.17
276 c.2531dupA p.His844Glnfs*66 1 0.17
277 c.2564C>G p.Ser855* 2 0.34
278 c.2572C>T p.Arg858Cys 1 0.17
279 c.2593C>T p.Gln865* 2 0.34
280 c.2635_2636delCT p.Leu879Glufs*30 6 1.03
281 c.2673G>A p.= 2 0.34
282 c.2684C>T p.Pro895Leu 1 0.17
283 c.2704C>T p.Gln902* 1 0.17
284 c.2711delC p.Pro904Glnfs*23 1 0.17
285 c.2714-47C>T p.= 1 0.17
286 c.2767C>T p.Arg923Cys 1 0.17
287 c.2830C>A p.Pro944Thr 2 0.34
288 c.2854C>T p.Arg952* 10 1.71
289 c.2896G>A p.Val966Ile 1 0.17
290 c.2908C>T p.Arg970* 1 0.17
291 c.2927C>T p.Pro976Leu 1 0.17
292 c.2928G>A p.= 1 0.17
293 c.2984T>G p.Phe995Cys 1 0.17
294 c.2995G>A p.Val999Met 7 1.2
295 c.3003C>T p.= 6 1.03
296 c.3012G>T p.Arg1004Ser 2 0.34
297 c.3032C>T p.Ala1011Val 1 0.17
298 c.3084G>A p.= 6 1.03
299 Records