NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)
|
rs201893287
|
0.00009
|
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)
|
rs61752361
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00005
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val)
|
rs267608556
|
0.00001
|
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)
|
rs61753978
|
0.00001
|
NM_001110792.2(MECP2):c.62+5380C>T
|
rs267608324
|
0.00001
|
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe)
|
rs267608547
|
0.00001
|
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT
|
|
|
NM_001110792.1(MECP2):c.(?_1)_(62_?)del
|
|
|
NM_001110792.2(MECP2):c.*122del
|
rs267608342
|
|
NM_001110792.2(MECP2):c.*92C>G
|
rs62621672
|
|
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter)
|
rs62641234
|
|
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs)
|
rs61751456
|
|
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs)
|
rs267608558
|
|
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs)
|
rs1557135016
|
|
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs)
|
rs267608559
|
|
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs)
|
rs1557135426
|
|
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs)
|
rs1557135300
|
|
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg)
|
rs267608560
|
|
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs)
|
rs1557135728
|
|
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly)
|
rs61752361
|
|
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs)
|
rs1557135402
|
|
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg)
|
rs61752365
|
|
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs)
|
rs1557135400
|
|
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal)
|
rs1557135603
|
|
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs)
|
rs1557135268
|
|
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del)
|
rs267608562
|
|
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs)
|
rs1557135350
|
|
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs)
|
rs1557135338
|
|
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs)
|
rs1557135225
|
|
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del)
|
rs1557135746
|
|
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del)
|
rs267608564
|
|
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg)
|
rs267608563
|
|
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)
|
|
|
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)
|
rs61752372
|
|
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter)
|
rs61752375
|
|
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del)
|
rs786205032
|
|
NM_001110792.2(MECP2):c.112del (p.Leu38fs)
|
rs61754426
|
|
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs)
|
rs1557135317
|
|
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa)
|
rs1557134819
|
|
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs)
|
rs1557135285
|
|
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs)
|
rs267608567
|
|
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)
|
rs1557135315
|
|
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs)
|
rs1557135213
|
|
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs)
|
rs1557135076
|
|
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs)
|
rs1557135314
|
|
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del)
|
rs1557135279
|
|
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
|
rs1557135447
|
|
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del)
|
rs1557135441
|
|
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs)
|
rs1557135299
|
|
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs)
|
rs267608340
|
|
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs)
|
rs1557135575
|
|
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs)
|
rs1557134378
|
|
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs)
|
rs1557135295
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs)
|
rs1557135212
|
|
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs)
|
rs267608573
|
|
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs)
|
rs63749023
|
|
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg)
|
rs267608575
|
|
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs)
|
rs267608574
|
|
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs)
|
rs63749024
|
|
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)
|
rs1557134779
|
|
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs)
|
rs267608576
|
|
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
|
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del)
|
rs786205033
|
|
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs)
|
rs267608577
|
|
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs)
|
rs267608578
|
|
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs)
|
rs267608579
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs)
|
rs267608580
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs)
|
rs267608584
|
|
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer)
|
rs267608582
|
|
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del)
|
rs267608579
|
|
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del)
|
rs267608581
|
|
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs)
|
rs61754419
|
|
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)
|
rs267608585
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs)
|
rs267608587
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs)
|
rs63583161
|
|
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs)
|
rs63749029
|
|
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs)
|
rs386134271
|
|
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs)
|
rs267608588
|
|
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs)
|
rs63009262
|
|
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs)
|
rs267608590
|
|
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs)
|
rs63749030
|
|
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del)
|
rs1557134858
|
|
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln)
|
rs267608594
|
|
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs)
|
rs267608591
|
|
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs)
|
rs267608593
|
|
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer)
|
rs267608596
|
|
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del)
|
rs63749034
|
|
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs)
|
rs1557134770
|
|
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs)
|
rs267608601
|
|
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)
|
rs267608600
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del)
|
rs1557135234
|
|
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del)
|
rs267608604
|
|
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer)
|
rs786205019
|
|
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs)
|
rs786205020
|
|
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs)
|
rs267608603
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del)
|
rs267608605
|
|
NM_001110792.2(MECP2):c.1200del (p.Pro401fs)
|
rs267608606
|
|
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs)
|
rs267608607
|
|
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs)
|
rs786205021
|
|
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter)
|
rs56268439
|
|
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)
|
rs267608610
|
|
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs)
|
rs61753011
|
|
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs)
|
rs1557135137
|
|
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
|
rs267608612
|
|
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs)
|
rs267608613
|
|
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)
|
rs267608614
|
|
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
|
rs61753965
|
|
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs)
|
rs63749038
|
|
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn)
|
rs267608616
|
|
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)
|
rs267608617
|
|
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
|
rs61754427
|
|
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs)
|
rs63749064
|
|
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)
|
rs61753972
|
|
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs)
|
rs267608624
|
|
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs)
|
rs61754428
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)
|
rs104894864
|
|
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs)
|
rs267608627
|
|
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del)
|
rs267608632
|
|
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs)
|
rs267608425
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs)
|
rs786205023
|
|
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
|
rs267608426
|
|
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)
|
rs267608637
|
|
NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs)
|
rs267608638
|
|
NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs)
|
rs267608638
|
|
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)
|
rs267608640
|
|
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs)
|
rs267608641
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.153dup (p.Glu52fs)
|
rs267608427
|
|
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
|
rs267608428
|
|
NM_001110792.2(MECP2):c.162dup (p.His55fs)
|
rs61754430
|
|
NM_001110792.2(MECP2):c.176dup (p.Pro60fs)
|
rs61754431
|
|
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.1A>G (p.Met1Val)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs)
|
rs61754436
|
|
NM_001110792.2(MECP2):c.237del (p.Ser80fs)
|
rs61754438
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs)
|
rs786205038
|
|
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs)
|
rs1557137871
|
|
NM_001110792.2(MECP2):c.251dup (p.Ala85fs)
|
rs61754441
|
|
NM_001110792.2(MECP2):c.269del (p.Ser90fs)
|
rs267608442
|
|
NM_001110792.2(MECP2):c.279dup (p.Lys94fs)
|
rs267608443
|
|
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys)
|
rs61754445
|
|
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs)
|
rs267608444
|
|
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs)
|
rs786205040
|
|
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter)
|
rs267608445
|
|
NM_001110792.2(MECP2):c.311dup (p.Pro105fs)
|
rs267608446
|
|
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser)
|
rs61754447
|
|
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr)
|
rs61754448
|
|
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu)
|
rs61754449
|
|
NM_001110792.2(MECP2):c.331_333del (p.Thr111del)
|
rs267608449
|
|
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)
|
rs28935168
|
|
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg)
|
rs61754451
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>A (p.Pro113His)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp)
|
rs267608450
|
|
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg)
|
rs267608451
|
|
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)
|
rs61754455
|
|
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs)
|
rs63749010
|
|
NM_001110792.2(MECP2):c.351dup (p.Arg118fs)
|
rs61754456
|
|
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs)
|
rs786205025
|
|
NM_001110792.2(MECP2):c.359T>A (p.Leu120His)
|
rs61754458
|
|
NM_001110792.2(MECP2):c.362dup (p.Gln122fs)
|
rs267608452
|
|
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly)
|
rs61754459
|
|
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala)
|
rs61755760
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp)
|
rs267608454
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe)
|
rs61755763
|
|
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe)
|
rs61755763
|
|
NM_001110792.2(MECP2):c.411del (p.Asn138fs)
|
rs267608457
|
|
NM_001110792.2(MECP2):c.413+1G>A
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+1G>T
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+2T>G
|
rs267608458
|
|
NM_001110792.2(MECP2):c.414-14G>A
|
rs267608467
|
|
NM_001110792.2(MECP2):c.414-2A>C
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-2A>G
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-2A>T
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs)
|
|
|
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu)
|
rs267608387
|
|
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter)
|
rs267608469
|
|
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs)
|
|
|
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)
|
rs61748383
|
|
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val)
|
rs61748384
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.434G>A (p.Arg145His)
|
rs61748389
|
|
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu)
|
rs61748389
|
|
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro)
|
rs267608471
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)
|
rs61748391
|
|
NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del)
|
|
|
NM_001110792.2(MECP2):c.447del (p.Glu149fs)
|
rs61748393
|
|
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.456del (p.Tyr153fs)
|
rs267608476
|
|
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys)
|
rs61748395
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs)
|
rs61748398
|
|
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter)
|
rs61748399
|
|
NM_001110792.2(MECP2):c.467del (p.Lys156fs)
|
rs61748400
|
|
NM_001110792.2(MECP2):c.475del (p.Asp159fs)
|
rs62952161
|
|
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs)
|
rs786205042
|
|
NM_001110792.2(MECP2):c.487del (p.Asp163fs)
|
rs61748402
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.48C>T (p.Gly16=)
|
rs786205045
|
|
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs)
|
rs786205043
|
|
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs)
|
rs786205043
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile)
|
rs61748406
|
|
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)
|
rs28934905
|
|
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys)
|
rs28934905
|
|
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)
|
rs61748410
|
|
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs)
|
rs267608483
|
|
NM_001110792.2(MECP2):c.506dup (p.Thr170fs)
|
rs267608482
|
|
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu)
|
rs267608484
|
|
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala)
|
rs61748411
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer)
|
rs267608485
|
|
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs)
|
rs267608486
|
|
NM_001110792.2(MECP2):c.516del (p.Arg174fs)
|
rs61748415
|
|
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)
|
rs61748416
|
|
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu)
|
rs61748417
|
|
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)
|
rs61748417
|
|
NM_001110792.2(MECP2):c.519del (p.Arg174fs)
|
rs61748418
|
|
NM_001110792.2(MECP2):c.520dup (p.Arg174fs)
|
rs267608487
|
|
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del)
|
rs1557135461
|
|
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs)
|
rs267608488
|
|
NM_001110792.2(MECP2):c.538C>A (p.Arg180=)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter)
|
rs61748425
|
|
NM_001110792.2(MECP2):c.567del (p.Lys189fs)
|
rs61749703
|
|
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter)
|
rs267608495
|
|
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs)
|
rs267608496
|
|
NM_001110792.2(MECP2):c.590del (p.Gly197fs)
|
rs61749707
|
|
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs)
|
rs786205047
|
|
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)
|
rs179363901
|
|
NM_001110792.2(MECP2):c.602del (p.Gly201fs)
|
rs61749708
|
|
NM_001110792.2(MECP2):c.602dup (p.Arg202fs)
|
rs61749708
|
|
NM_001110792.2(MECP2):c.603dup (p.Arg202fs)
|
rs61749709
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.62+2_62+3del
|
rs786205049
|
|
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter)
|
rs61749717
|
|
NM_001110792.2(MECP2):c.63-2A>G
|
rs267608412
|
|
NM_001110792.2(MECP2):c.63-3928_1220del
|
|
|
NM_001110792.2(MECP2):c.63-6214_1227del
|
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.63-8C>G
|
rs267608410
|
|
NM_001110792.2(MECP2):c.63-94_1243del
|
|
|
NM_001110792.2(MECP2):c.63-9A>G
|
rs267608413
|
|
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter)
|
rs61749718
|
|
NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
|
rs267608503
|
|
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs)
|
rs267608506
|
|
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter)
|
rs61749724
|
|
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter)
|
rs267608507
|
|
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter)
|
rs61749726
|
|
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del)
|
rs1557135847
|
|
NM_001110792.2(MECP2):c.653del (p.Gly218fs)
|
rs61749727
|
|
NM_001110792.2(MECP2):c.656dup (p.Gln220fs)
|
rs61749728
|
|
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter)
|
rs61749729
|
|
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile)
|
rs61749730
|
|
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu)
|
rs267608509
|
|
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs)
|
rs267608510
|
|
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs)
|
rs61749734
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs)
|
rs267608514
|
|
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs)
|
rs61749736
|
|
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs)
|
rs63749008
|
|
NM_001110792.2(MECP2):c.731del (p.Gly244fs)
|
rs63260260
|
|
NM_001110792.2(MECP2):c.731dup (p.Lys245fs)
|
rs63260260
|
|
NM_001110792.2(MECP2):c.732del (p.Lys245fs)
|
rs61749741
|
|
NM_001110792.2(MECP2):c.746del (p.Gly249fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs)
|
rs1557135125
|
|
NM_001110792.2(MECP2):c.756dup (p.Thr253fs)
|
rs267608518
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs)
|
rs1557135670
|
|
NM_001110792.2(MECP2):c.770_795del (p.Val257fs)
|
rs267608519
|
|
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs)
|
rs61749749
|
|
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer)
|
rs61749750
|
|
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs)
|
rs1557136523
|
|
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs)
|
rs1557136549
|
|
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs)
|
rs61750225
|
|
NM_001110792.2(MECP2):c.784dup (p.Arg262fs)
|
rs61749752
|
|
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs)
|
rs267608521
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.789del (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.791del (p.Gly264fs)
|
rs61750232
|
|
NM_001110792.2(MECP2):c.791dup (p.Arg265fs)
|
rs61750232
|
|
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs)
|
rs267608523
|
|
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs)
|
rs61750235
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter)
|
rs786205027
|
|
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs)
|
rs267608524
|
|
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs)
|
rs1557135596
|
|
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter)
|
rs267608525
|
|
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs)
|
rs786205028
|
|
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs)
|
rs267608526
|
|
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter)
|
rs61750238
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.844del (p.Arg282fs)
|
rs62931162
|
|
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs)
|
rs267608529
|
|
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs)
|
rs61750242
|
|
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs)
|
rs63749012
|
|
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del)
|
rs1557135541
|
|
NM_001110792.2(MECP2):c.866del (p.Ala289fs)
|
rs61750247
|
|
NM_001110792.2(MECP2):c.86dup (p.Asp29fs)
|
rs267608416
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
|
rs1557135197
|
|
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs)
|
rs1557135499
|
|
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs)
|
rs786205030
|
|
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs)
|
rs61750256
|
|
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)
|
rs61750259
|
|
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs)
|
rs267608536
|
|
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs)
|
rs1557135218
|
|
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs)
|
rs786205031
|
|
NM_001110792.2(MECP2):c.905dup (p.Ser303fs)
|
rs267608538
|
|
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala)
|
rs61751360
|
|
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)
|
rs1557136013
|
|
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs)
|
rs61751361
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs)
|
rs61751364
|
|
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs)
|
rs267608540
|
|
NM_001110792.2(MECP2):c.919del (p.Ser307fs)
|
rs267608541
|
|
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter)
|
rs61754425
|
|
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter)
|
rs61751367
|
|
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs)
|
rs1557135907
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs)
|
rs1557135893
|
|
NM_001110792.2(MECP2):c.934_937del (p.Val312fs)
|
rs62701461
|
|
NM_001110792.2(MECP2):c.934_940del (p.Val312fs)
|
rs267608543
|
|
NM_001110792.2(MECP2):c.934del (p.Val312fs)
|
rs267608544
|
|
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del)
|
rs267608545
|
|
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.941C>A (p.Pro314His)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu)
|
rs1557135788
|
|
NM_001110792.2(MECP2):c.942del (p.Ile315fs)
|
rs267608548
|
|
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser)
|
rs267608549
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu)
|
rs267608551
|
|
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)
|
rs61751441
|
|
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs)
|
rs1557135622
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala)
|
rs61751448
|
|
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs)
|
rs1557135128
|
|
NM_001323289.2(CDKL5):c.-162-2A>G
|
rs786204973
|
|
NM_001323289.2(CDKL5):c.100-2A>G
|
rs267608423
|
|
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs)
|
rs786204964
|
|
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)
|
rs267608561
|
|
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs)
|
rs267608565
|
|
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs)
|
rs267608566
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter)
|
rs267608618
|
|
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro)
|
rs267608631
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)
|
rs786204974
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro)
|
rs267608435
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs)
|
rs267608651
|
|
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs)
|
rs786204977
|
|
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs)
|
rs786204978
|
|
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)
|
rs267608653
|
|
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
|
rs62641235
|
|
NM_001323289.2(CDKL5):c.2277-2A>G
|
rs786204979
|
|
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs)
|
rs267608441
|
|
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs)
|
rs267608654
|
|
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs)
|
rs267608655
|
|
NM_001323289.2(CDKL5):c.2376+1G>A
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2376+1G>C
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)
|
rs17857094
|
|
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs)
|
rs267608660
|
|
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs)
|
rs267608661
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs)
|
rs786204982
|
|
NM_001323289.2(CDKL5):c.283-3_290del
|
rs786204983
|
|
NM_001323289.2(CDKL5):c.39del (p.Phe13fs)
|
rs267608415
|
|
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)
|
rs267608472
|
|
NM_001323289.2(CDKL5):c.403+540_554+61del
|
|
|
NM_001323289.2(CDKL5):c.404-1G>A
|
rs267608474
|
|
NM_001323289.2(CDKL5):c.404-1G>T
|
rs267608474
|
|
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly)
|
rs786204985
|
|
NM_001323289.2(CDKL5):c.464-2A>G
|
rs267608480
|
|
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro)
|
rs757402424
|
|
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
|
rs786204987
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu)
|
rs61749704
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.64+2del
|
rs267608419
|
|
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)
|
rs267608511
|
|
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr)
|
rs869312851
|
|
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg)
|
rs267608515
|
|
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs)
|
rs267608528
|
|
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)
|
rs267606713
|
|
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs)
|
rs267608537
|
|
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)
|
rs267606714
|
|
NM_001323289.2(CDKL5):c.884del (p.Pro295fs)
|
rs267608542
|
|
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly)
|
rs786204991
|
|
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs)
|
rs267608552
|
|
NM_001323289.2(CDKL5):c.978-2A>G
|
rs267608553
|
|
NM_001323289.2(CDKL5):c.99+1G>T
|
rs267608421
|
|
NM_001323289.2(CDKL5):c.99+5G>A
|
rs587783131
|
|
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
|
|
|
NM_003159.2(CDKL5):c.-162-?_*85del
|
|
|
NM_003159.2(CDKL5):c.-162-?_145+?del
|
|
|
NM_003159.2(CDKL5):c.-162-?_64+?del
|
|
|
NM_003159.2(CDKL5):c.-162-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.-253_-163+?del
|
|
|
NM_003159.2(CDKL5):c.-253_2276+?del
|
|
|
NM_003159.2(CDKL5):c.-253_825+?del
|
|
|
NM_003159.2(CDKL5):c.-253_977+?del
|
|
|
NM_003159.2(CDKL5):c.-253_99+?del
|
|
|
NM_003159.2(CDKL5):c.100-?_145+?del
|
|
|
NM_003159.2(CDKL5):c.146-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2377-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2497-?_*85del
|
|
|
NM_003159.2(CDKL5):c.65-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.745-?_825+?del
|
|
|
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
|
|
|
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_-226)_-99+?del
|
|
|
NM_004992.3(MECP2):c.(?_-226)_26+?del
|
|
|
NM_004992.3(MECP2):c.(?_1)_26+?dup
|
|
|
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
|
|
|
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?))
|
|
|
NM_004992.3(MECP2):c.(?_248)_(320_?)del
|
|
|
NM_004992.3(MECP2):c.(?_27)_(367_?)del
|
|
|
NM_004992.3(MECP2):c.(?_378)_(1170_?)del
|
|
|
NM_004992.3(MECP2):c.(?_378)_(1185_?)del
|
|
|
NM_004992.3(MECP2):c.(?_378)_(1337_?)del
|
|
|
NM_004992.3(MECP2):c.(?_378)_*(1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
|
|
|
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
|
|
|
NM_004992.3(MECP2):c.-98-?_377+?del
|
|
|
NM_004992.3(MECP2):c.1-?dup
|
|
|
NM_004992.3(MECP2):c.1101_(1396_?)del
|
|
|
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
|
|
|
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
|
|
|
NM_004992.3(MECP2):c.27-12521_*5072del
|
|
|
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
|
|
|
NM_004992.3(MECP2):c.27-4722_*739delins43
|
|
|
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
|
|
|
NM_004992.3(MECP2):c.27-6026_1190delinsGT
|
|
|
NM_004992.3(MECP2):c.481_987del507ins8
|
|
|
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
|
|
|
NM_004992.3(MECP2):c.830_831ins23 (p.?)
|
|
|
NM_004992.3:c.(?_184)_(1065_?)del
|
|
|
NM_004992.3:c.(?_27)_(*1_?)del
|
|
|
NM_004992.3:c.(?_27)_(*8554_?)del
|
|
|
NM_004992.3:c.(?_27)_(1018_?)del
|
|
|
NM_004992.3:c.(?_27)_(1021_?)del
|
|
|
NM_004992.3:c.(?_27)_(1029_?)del
|
|
|
NM_004992.3:c.(?_27)_(1170_?)del
|
|
|
NM_004992.3:c.(?_27)_(1185_?)del
|
|
|
NM_004992.3:c.(?_27)_(1337_?)del
|
|
|
NM_004992.3:c.(?_27)_(1397_?)del
|
|
|
NM_004992.3:c.(?_27)_(378_1461)del
|
|
|
NM_004992.3:c.(?_27)_(378_?)del
|
|
|
NM_004992.3:c.343_1182del
|
|
|
NM_004992.4(MECP2):c.26+2T>A
|
rs267608409
|
|
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)
|
rs138747073
|
|
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)
|
rs786204999
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.256dup (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.552dup (p.Ser185fs)
|
rs786205004
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter)
|
rs267606826
|
|
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)
|
rs267606828
|
|
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)
|
rs786205012
|
|
NM_005249.5(FOXG1):c.689G>A (p.Arg230His)
|
rs786205007
|
|
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)
|
rs786205008
|
|
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys)
|
rs786205009
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter)
|
rs121913678
|
|
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)
|
rs786205010
|
|
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter)
|
rs267606827
|
|
NM_005249.5(FOXG1):c.969del (p.Ser323fs)
|
rs786205011
|
|
nsv1197494
|
|
|