ClinVar Miner

List of variants in gene MECP2

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1067
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HGVS dbSNP
GRCh37/hg19 Xq28(chrX:153292180-153296464)x2
GRCh37/hg19 Xq28(chrX:153295624-153296445)x2
GRCh37/hg19 Xq28(chrX:153296295-153296464)x2
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1157
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 44-BP DEL, NT1159
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.1(MECP2):c.62+2_62+3delTG rs786205049
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr)
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) rs1240023402
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
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.23del (p.Ala8fs)
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.33_35AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
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.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476
NM_001110792.2(MECP2):c.55_56GA[2] (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) rs587783133
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
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 (p.(?))
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?))
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 (p.(?))
NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?))
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.*1134G>A rs267608390
NM_004992.3(MECP2):c.*122del rs267608342
NM_004992.3(MECP2):c.*1237T>C rs267608365
NM_004992.3(MECP2):c.*1368C>A rs267608355
NM_004992.3(MECP2):c.*13C>T rs782334844
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*16A>G rs1057520854
NM_004992.3(MECP2):c.*1737G>A rs3027922
NM_004992.3(MECP2):c.*177G>C rs267608345
NM_004992.3(MECP2):c.*1C>G rs781782964
NM_004992.3(MECP2):c.*204G>A rs267608352
NM_004992.3(MECP2):c.*2556T>A rs267608356
NM_004992.3(MECP2):c.*2657G>A rs3027921
NM_004992.3(MECP2):c.*2706G>A rs267608357
NM_004992.3(MECP2):c.*2956G>A rs267608358
NM_004992.3(MECP2):c.*328G>A rs62621673
NM_004992.3(MECP2):c.*3477G>A rs56036177
NM_004992.3(MECP2):c.*359G>C rs62621674
NM_004992.3(MECP2):c.*363G>C rs62621675
NM_004992.3(MECP2):c.*3658C>T rs267608359
NM_004992.3(MECP2):c.*3662A>G rs267608366
NM_004992.3(MECP2):c.*36G>C rs267608347
NM_004992.3(MECP2):c.*371G>C rs187851059
NM_004992.3(MECP2):c.*3878G>C rs148230889
NM_004992.3(MECP2):c.*393G>A rs267608361
NM_004992.3(MECP2):c.*4084_*4085GT[1] rs267608367
NM_004992.3(MECP2):c.*4576A>C rs3027920
NM_004992.3(MECP2):c.*487G>C rs267608325
NM_004992.3(MECP2):c.*489G>C rs111565519
NM_004992.3(MECP2):c.*529G>T rs267608362
NM_004992.3(MECP2):c.*5348T>C rs267608346
NM_004992.3(MECP2):c.*544G>A rs183349022
NM_004992.3(MECP2):c.*5478_*5479AT[6] rs202139104
NM_004992.3(MECP2):c.*554G>A rs267608353
NM_004992.3(MECP2):c.*55C>G rs267608344
NM_004992.3(MECP2):c.*5839C>T rs267608368
NM_004992.3(MECP2):c.*767G>T rs267608354
NM_004992.3(MECP2):c.*7748C>T rs3027917
NM_004992.3(MECP2):c.*7856A>C rs3027915
NM_004992.3(MECP2):c.*796_*822del rs267608375
NM_004992.3(MECP2):c.*806G>A rs267608363
NM_004992.3(MECP2):c.*831G>C rs190920575
NM_004992.3(MECP2):c.*8500C>G rs267608391
NM_004992.3(MECP2):c.*8503del rs267608360
NM_004992.3(MECP2):c.*8503dup rs267608360
NM_004992.3(MECP2):c.*861T>G rs187614438
NM_004992.3(MECP2):c.*875dup rs267608364
NM_004992.3(MECP2):c.*878C>G rs3027924
NM_004992.3(MECP2):c.*8C>T rs267608330
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.*92C>T rs62621672
NM_004992.3(MECP2):c.*93G>A rs267608326
NM_004992.3(MECP2):c.*98dupA rs267608341
NM_004992.3(MECP2):c.*9G>A rs144008995
NM_004992.3(MECP2):c.*9G>T rs144008995
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.-174A>C rs1557150926
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-187_-186delinsTT rs786205039
NM_004992.3(MECP2):c.-189A>T rs1443487023
NM_004992.3(MECP2):c.-195T>G rs1335569199
NM_004992.3(MECP2):c.-203C>G rs1057524091
NM_004992.3(MECP2):c.-214_-213GC[4] rs782107551
NM_004992.3(MECP2):c.-95C>G rs782519280
NM_004992.3(MECP2):c.-98-157A>G
NM_004992.3(MECP2):c.-98-?_377+?del
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.-99+20C>A rs781969166
NM_004992.3(MECP2):c.-99+20C>G rs781969166
NM_004992.3(MECP2):c.-99+2T>G rs1557150841
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1001_1183del (p.Lys334_Glu394del) rs1557135547
NM_004992.3(MECP2):c.1004_1037del (p.Gly335fs) rs267608376
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_004992.3(MECP2):c.1007_1097delinsCTGTAAGTGCAC (p.Leu336fs) rs1557135901
NM_004992.3(MECP2):c.1007_1194del (p.Leu336fs) rs1557135418
NM_004992.3(MECP2):c.1009_1027del (p.Lys337fs) rs267608559
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.3(MECP2):c.100_103del (p.Asp34fs) rs61754428
NM_004992.3(MECP2):c.1012_1193del (p.Thr338fs) rs1557135426
NM_004992.3(MECP2):c.1012_1202del (p.Thr338fs) rs1557135300
NM_004992.3(MECP2):c.1013C>G (p.Thr338Ser) rs786204313
NM_004992.3(MECP2):c.1014C>T (p.Thr338=) rs267608400
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) rs267608560
NM_004992.3(MECP2):c.1019dup (p.Ser341fs) rs1557136059
NM_004992.3(MECP2):c.1024_1025insAG (p.Pro342fs) rs1060499620
NM_004992.3(MECP2):c.1025C>G (p.Pro342Arg) rs1569548372
NM_004992.3(MECP2):c.1028_1158del (p.Gly343fs) rs1557135728
NM_004992.3(MECP2):c.1028_1210del (p.Gly343_Pro403del)
NM_004992.3(MECP2):c.1029G>C (p.Gly343=) rs1057522816
NM_004992.3(MECP2):c.1029del (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.1029dup (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.102del (p.Asp34fs) rs1557137983
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) rs61752361
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) rs61752361
NM_004992.3(MECP2):c.1030_1195delinsGT (p.Arg344fs) rs1557135402
NM_004992.3(MECP2):c.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg) rs61752365
NM_004992.3(MECP2):c.1039_1195delinsGT (p.Lys347fs) rs1557135400
NM_004992.3(MECP2):c.1041G>A (p.Lys347=) rs1043854626
NM_004992.3(MECP2):c.1041_*29del (p.Lys347_Ter487delinsXaa) rs1557134784
NM_004992.3(MECP2):c.1043_1056del (p.Glu348fs) rs267608380
NM_004992.3(MECP2):c.1043_1173delinsTG (p.Glu348_Pro391delinsVal) rs1557135603
NM_004992.3(MECP2):c.1046_1206del (p.Ser349fs) rs1557135268
NM_004992.3(MECP2):c.1048_1095del (p.Ser350_Glu365del) rs267608562
NM_004992.3(MECP2):c.1048_1199del (p.Ser350fs) rs1557135350
NM_004992.3(MECP2):c.1049G>A (p.Ser350Asn) rs1557136008
NM_004992.3(MECP2):c.104_107AGAA[1] (p.Glu37fs) rs267608426
NM_004992.3(MECP2):c.1051_1054del (p.Pro351fs) rs267608377
NM_004992.3(MECP2):c.1051_1065del (p.Pro351_Ser355del) rs267608384
NM_004992.3(MECP2):c.1052_1200del (p.Pro351fs) rs1557135338
NM_004992.3(MECP2):c.1053C>G (p.Pro351=) rs782242577
NM_004992.3(MECP2):c.1057_1219del (p.Gly353fs) rs1557135225
NM_004992.3(MECP2):c.1059_1072del (p.Arg354fs) rs267608378
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1061G>A (p.Arg354His) rs61748387
NM_004992.3(MECP2):c.1061G>T (p.Arg354Leu) rs61748387
NM_004992.3(MECP2):c.1061_1074del (p.Arg354fs) rs267608381
NM_004992.3(MECP2):c.1061_1156del (p.Arg354_Pro385del) rs1557135746
NM_004992.3(MECP2):c.1062C>T (p.Arg354=) rs782228941
NM_004992.3(MECP2):c.1063_1065AGC[2] (p.Ser357del) rs267608564
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) rs267608563
NM_004992.3(MECP2):c.1065C>T (p.Ser355=) rs267608563
NM_004992.3(MECP2):c.1066_1166del (p.Ser357fs) rs1557135664
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1078_*2524del (p.Ser360fs)
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.107_108del (p.Lys36fs) rs267608425
NM_004992.3(MECP2):c.107_113del (p.Lys36fs) rs267608424
NM_004992.3(MECP2):c.1081C>A (p.Pro361Thr)
NM_004992.3(MECP2):c.1081C>G (p.Pro361Ala) rs61752373
NM_004992.3(MECP2):c.1081C>T (p.Pro361Ser)
NM_004992.3(MECP2):c.1084C>G (p.Pro362Ala) rs782171742
NM_004992.3(MECP2):c.1084C>T (p.Pro362Ser) rs782171742
NM_004992.3(MECP2):c.1085_1186delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro362fs) rs1557135516
NM_004992.3(MECP2):c.1086del (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1086dup (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter) rs61752375
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363fs) rs1557135929
NM_004992.3(MECP2):c.1088A>C (p.Lys363Thr) rs1057520135
NM_004992.3(MECP2):c.1088_1115del (p.Lys363fs) rs267608385
NM_004992.3(MECP2):c.1089_1129del (p.Lys364fs) rs1064792898
NM_004992.3(MECP2):c.1093_1095del (p.Glu365del) rs786205032
NM_004992.3(MECP2):c.1094_1138del (p.Glu365_Pro379del) rs1064792899
NM_004992.3(MECP2):c.1096_1201del (p.His366fs) rs1557135317
NM_004992.3(MECP2):c.1097_*13del (p.His366_Ter487delinsXaa) rs1557134819
NM_004992.3(MECP2):c.1097_1203del (p.His366fs) rs1557135285
NM_004992.3(MECP2):c.1098C>T (p.His366=) rs1557135898
NM_004992.3(MECP2):c.1098_1100CCA[1] (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1099_1118del (p.His367fs) rs267608567
NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs)
NM_004992.3(MECP2):c.1101_1201del (p.His367fs) rs1557135315
NM_004992.3(MECP2):c.1102C>G (p.His368Asp) rs781968415
NM_004992.3(MECP2):c.1104C>T (p.His368=) rs61752382
NM_004992.3(MECP2):c.1105_1116del (p.His369_His372del) rs267608371
NM_004992.3(MECP2):c.1105_1225del (p.His369fs) rs1557135213
NM_004992.3(MECP2):c.1105del (p.His369fs) rs267608568
NM_004992.3(MECP2):c.1107T>C (p.His369=) rs1557135877
NM_004992.3(MECP2):c.1111dup (p.His371fs) rs1057519404
NM_004992.3(MECP2):c.1115A>C (p.His372Pro) rs782019867
NM_004992.3(MECP2):c.1115_1201del (p.His372_Ser401delinsArg) rs1557135313
NM_004992.3(MECP2):c.1115_1321del (p.His372_Ala441delinsPro) rs1557135080
NM_004992.3(MECP2):c.1115_1326del (p.His372fs) rs1557135076
NM_004992.3(MECP2):c.1116_1201del (p.His372fs) rs1557135314
NM_004992.3(MECP2):c.1117T>C (p.Ser373Pro) rs782420258
NM_004992.3(MECP2):c.1117_1203del (p.Ser373_Ser401del) rs1557135279
NM_004992.3(MECP2):c.1118C>A (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1119dup (p.Glu374fs) rs1557135851
NM_004992.3(MECP2):c.1121_1191del (p.Glu374fs) rs1557135447
NM_004992.3(MECP2):c.1123_1191del (p.Ser375_Glu397del) rs1557135441
NM_004992.3(MECP2):c.1123_1202del (p.Ser375fs) rs1557135299
NM_004992.3(MECP2):c.1125C>T (p.Ser375=) rs782221170
NM_004992.3(MECP2):c.1125_1137del (p.Pro376fs) rs267608340
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1127C>G (p.Pro376Arg) rs61752976
NM_004992.3(MECP2):c.1127_1137del (p.Pro376fs) rs267608340
NM_004992.3(MECP2):c.1127_1179del (p.Pro376fs) rs1557135575
NM_004992.3(MECP2):c.1128_1179del (p.Lys377fs) rs1557135571
NM_004992.3(MECP2):c.1129_*568delinsCCGTGG (p.Lys377fs) rs1557134378
NM_004992.3(MECP2):c.1129_1133delinsGAGT (p.Lys377fs) rs267608379
NM_004992.3(MECP2):c.1129_1193del (p.Lys377fs) rs1557135423
NM_004992.3(MECP2):c.1129_1198del (p.Lys377fs) rs1557135353
NM_004992.3(MECP2):c.1132G>A (p.Ala378Thr) rs587783106
NM_004992.3(MECP2):c.1132G>T (p.Ala378Ser) rs587783106
NM_004992.3(MECP2):c.1132_1159del (p.Ala378fs) rs267608348
NM_004992.3(MECP2):c.1132_1202del (p.Ala378fs) rs1557135295
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1134C>T (p.Ala378=) rs782751264
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1136_1142del (p.Pro379fs) rs267608389
NM_004992.3(MECP2):c.1137C>T (p.Pro379=) rs61752980
NM_004992.3(MECP2):c.1137del (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1137dup (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1138_1163del (p.Val380fs) rs267608382
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1141C>G (p.Pro381Ala) rs61752981
NM_004992.3(MECP2):c.1141C>T (p.Pro381Ser) rs61752981
NM_004992.3(MECP2):c.1142_1227del (p.Pro381fs) rs1557135212
NM_004992.3(MECP2):c.1143_1160del (p.Leu382_Pro387del)
NM_004992.3(MECP2):c.1145_1171del (p.Leu382_Pro390del) rs587783094
NM_004992.3(MECP2):c.1145_1194del (p.Leu382fs) rs267608573
NM_004992.3(MECP2):c.1146_*452del (p.Leu382_Ter487delinsXaa) rs1557134481
NM_004992.3(MECP2):c.1147C>T (p.Leu383Phe) rs1340029095
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1148_1159del (p.Leu383_Leu386del) rs782767712
NM_004992.3(MECP2):c.1148_1177del (p.Leu383_Glu392del) rs267608350
NM_004992.3(MECP2):c.1150C>T (p.Pro384Ser)
NM_004992.3(MECP2):c.1150_1192del (p.Pro384fs) rs63749023
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1151_1183del (p.Pro384_Ser395delinsArg) rs267608575
NM_004992.3(MECP2):c.1151_1188del (p.Pro384fs) rs267608574
NM_004992.3(MECP2):c.1151_1191del (p.Pro384fs) rs63749024
NM_004992.3(MECP2):c.1152_*29del (p.Pro384_Ter487delinsXaa) rs1557134779
NM_004992.3(MECP2):c.1152_1155del (p.Pro385fs) rs267608576
NM_004992.3(MECP2):c.1152_1171del (p.Pro384_Pro385insTer) rs1557135631
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
NM_004992.3(MECP2):c.1153_1188del (p.Pro385_Ser396del) rs786205033
NM_004992.3(MECP2):c.1153_1190del (p.Pro385fs) rs267608577
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1154_1185del (p.Pro385fs) rs267608578
NM_004992.3(MECP2):c.1154_1190delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro385_Glu397delinsGlnGlnAsnSerProProTer) rs1569548307
NM_004992.3(MECP2):c.1154_1197del (p.Pro385fs) rs267608579
NM_004992.3(MECP2):c.1155_1166del (p.Leu386_Pro389del) rs782174572
NM_004992.3(MECP2):c.1155_1172del (p.Leu386_Pro391del) rs267608392
NM_004992.3(MECP2):c.1155_1183del (p.Pro387fs) rs267608580
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1155_1208del (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1157dup (p.Pro387fs) rs267608584
NM_004992.3(MECP2):c.1156_1172del (p.Pro385_Leu386insTer) rs267608582
NM_004992.3(MECP2):c.1156_1188del (p.Leu386_Ser396del) rs1569548314
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1156_1200del (p.Leu386_Thr400del) rs267608581
NM_004992.3(MECP2):c.1157_*944del (p.Leu386fs)
NM_004992.3(MECP2):c.1157_1162del (p.Leu386_Pro387del) rs1569548334
NM_004992.3(MECP2):c.1157_1187del (p.Leu386fs) rs61754419
NM_004992.3(MECP2):c.1157_1188del (p.Leu386fs) rs267608585
NM_004992.3(MECP2):c.1157_1191del (p.Leu386fs) rs267608586
NM_004992.3(MECP2):c.1157_1192del (p.Leu386_Asp398delinsHis) rs63749028
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1199del (p.Leu386fs) rs267608587
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1158_*261del (p.Pro387fs) rs1557134621
NM_004992.3(MECP2):c.1158_*3444del (p.Pro387fs)
NM_004992.3(MECP2):c.1158_1167del (p.Pro387fs) rs63583161
NM_004992.3(MECP2):c.1158_1186del (p.Pro387fs) rs63749029
NM_004992.3(MECP2):c.1158_1186delinsCCA (p.Pro387fs) rs386134271
NM_004992.3(MECP2):c.1158_1198del (p.Pro387fs) rs267608588
NM_004992.3(MECP2):c.1158_1200del (p.Pro387fs) rs63009262
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1159_1174del (p.Pro387fs) rs267608373
NM_004992.3(MECP2):c.1159_1201del (p.Pro387fs) rs63749030
NM_004992.3(MECP2):c.1159_1210del (p.Pro387fs) rs1557135251
NM_004992.3(MECP2):c.1159_1458del (p.Pro387_Ser486del) rs1557134858
NM_004992.3(MECP2):c.1159delinsAGCCCACCTCCCA (p.Pro387delinsSerProProProThr) rs1557135722
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1160_1166del (p.Pro387fs) rs267608332
NM_004992.3(MECP2):c.1160_1180del (p.Pro387_Glu394delinsGln) rs267608594
NM_004992.3(MECP2):c.1160_1185del (p.Pro387fs) rs267608591
NM_004992.3(MECP2):c.1160_1188del (p.Pro387fs) rs267608593
NM_004992.3(MECP2):c.1160_1200del (p.Pro387fs) rs267608592
NM_004992.3(MECP2):c.1160_1200delinsAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) rs267608343
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1161_1163del (p.Pro391del) rs267608339
NM_004992.3(MECP2):c.1161_1166del (p.Pro390_Pro391del) rs267608332
NM_004992.3(MECP2):c.1161_1169del (p.Pro389_Pro391del) rs267608401
NM_004992.3(MECP2):c.1161_1205delinsA (p.Pro388_Pro389insTer) rs267608596
NM_004992.3(MECP2):c.1161_1266del (p.Pro388fs) rs1557135140
NM_004992.3(MECP2):c.1161_1400del (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1163del (p.Pro388fs) rs267608339
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1162_1167CCACCT[1] (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1162_1179del (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1162_1191del (p.Pro388_Glu397del) rs63749034
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_*39del (p.Pro388fs) rs1557134770
NM_004992.3(MECP2):c.1163_1173del (p.Pro388fs) rs267608334
NM_004992.3(MECP2):c.1163_1179del (p.Pro388fs) rs267608601
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1163_1201del (p.Pro388_Ser401delinsArg) rs267608602
NM_004992.3(MECP2):c.1163_1216del (p.Pro388_Pro405del) rs1557135234
NM_004992.3(MECP2):c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388_Gly428delinsGlnTer) rs1557135110
NM_004992.3(MECP2):c.1163dup (p.Pro389fs) rs267608339
NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
NM_004992.3(MECP2):c.1164_1172del (p.Pro389_Pro391del) rs267608604
NM_004992.3(MECP2):c.1164_1184del (p.Pro389_Ser395del) rs1557135539
NM_004992.3(MECP2):c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA (p.Pro389_Ser395delinsTer) rs786205019
NM_004992.3(MECP2):c.1164_1194del (p.Pro391fs) rs786205020
NM_004992.3(MECP2):c.1164_1199delinsT (p.Pro389fs) rs1557135346
NM_004992.3(MECP2):c.1164_1206del (p.Pro389fs) rs267608603
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1164_1208del (p.Pro389_Pro403del) rs267608605
NM_004992.3(MECP2):c.1164del (p.Pro389fs) rs267608606
NM_004992.3(MECP2):c.1165_1190del (p.Pro389fs) rs267608607
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1166dup (p.Pro390fs) rs797044733
NM_004992.3(MECP2):c.1167_1176del (p.Pro391fs) rs267608349
NM_004992.3(MECP2):c.1167_1200del (p.Pro390fs) rs267608343
NM_004992.3(MECP2):c.1168C>G (p.Pro390Ala) rs797045690
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.1171C>G (p.Pro391Ala) rs781794820
NM_004992.3(MECP2):c.1173_1188del (p.Glu392fs) rs267608369
NM_004992.3(MECP2):c.1175A>C (p.Glu392Ala) rs1557135593
NM_004992.3(MECP2):c.1176G>A (p.Glu392=) rs61753009
NM_004992.3(MECP2):c.1176_1193del (p.Glu392_Glu397del) rs267608335
NM_004992.3(MECP2):c.1178C>T (p.Pro393Leu) rs267608402
NM_004992.3(MECP2):c.1178_1185del (p.Pro393fs) rs267608383
NM_004992.3(MECP2):c.1179C>T (p.Pro393=) rs781898011
NM_004992.3(MECP2):c.117_118AG[1] (p.Glu40fs) rs267608428
NM_004992.3(MECP2):c.117dup (p.Glu40fs) rs267608427
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1180_1181insT (p.Glu394fs) rs786205021
NM_004992.3(MECP2):c.1180_1197del (p.Glu394_Pro399del) rs1557135368
NM_004992.3(MECP2):c.1180_1205del (p.Glu394fs) rs267608333
NM_004992.3(MECP2):c.1180_1215del (p.Glu394_Pro405del) rs782746707
NM_004992.3(MECP2):c.1181_1191del (p.Glu394fs) rs267608403
NM_004992.3(MECP2):c.1185_1191del (p.Ser395fs) rs63749018
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter) rs56268439
NM_004992.3(MECP2):c.1189_1196del (p.Glu397fs) rs267608338
NM_004992.3(MECP2):c.1189_1231inv (p.Glu397_Ser411delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_004992.3(MECP2):c.1190dup (p.Asp398fs) rs267608610
NM_004992.3(MECP2):c.1194C>T (p.Asp398=) rs782741920
NM_004992.3(MECP2):c.1194_1195insT (p.Pro399fs) rs61753011
NM_004992.3(MECP2):c.1195C>T (p.Pro399Ser) rs797045691
NM_004992.3(MECP2):c.1196C>T (p.Pro399Leu) rs62915962
NM_004992.3(MECP2):c.1196_1266del (p.Pro399fs) rs1557135137
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1197_1237inv (p.Thr400_Cys413delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_004992.3(MECP2):c.1197dup (p.Thr400fs) rs267608612
NM_004992.3(MECP2):c.1200dup (p.Ser401fs) rs267608613
NM_004992.3(MECP2):c.1202G>A (p.Ser401Asn) rs62707562
NM_004992.3(MECP2):c.1202G>C (p.Ser401Thr) rs62707562
NM_004992.3(MECP2):c.1202dup (p.Ser401fs) rs267608614
NM_004992.3(MECP2):c.1203C>T (p.Ser401=) rs782230851
NM_004992.3(MECP2):c.1204C>A (p.Pro402Thr) rs150146088
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1207C>G (p.Pro403Ala) rs782495086
NM_004992.3(MECP2):c.1208C>T (p.Pro403Leu) rs587783107
NM_004992.3(MECP2):c.1208dup (p.Pro403_Glu404insTer) rs781843758
NM_004992.3(MECP2):c.1209del (p.Glu404fs) rs1064796837
NM_004992.3(MECP2):c.1212G>A (p.Glu404=) rs782585521
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1214_1227del (p.Pro405fs) rs1557135208
NM_004992.3(MECP2):c.1214_1230del (p.Pro405fs) rs267608615
NM_004992.3(MECP2):c.1215C>T (p.Pro405=) rs61753964
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1223_1265del (p.Leu408fs) rs63749038
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) rs267608616
NM_004992.3(MECP2):c.1232_1236del (p.Ser411fs) rs267608351
NM_004992.3(MECP2):c.1232_1240del (p.Ser411_Cys413del) rs63749027
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1233_1243del (p.Ser411fs) rs786205036
NM_004992.3(MECP2):c.1234G>A (p.Val412Ile) rs61753966
NM_004992.3(MECP2):c.1234_1337del (p.Val412fs) rs1557135039
NM_004992.3(MECP2):c.1235_1260del (p.Val412fs) rs267608617
NM_004992.3(MECP2):c.1237T>C (p.Cys413Arg) rs797045692
NM_004992.3(MECP2):c.1238_1266del (p.Cys413fs) rs267608374
NM_004992.3(MECP2):c.1239C>T (p.Cys413=) rs61753967
NM_004992.3(MECP2):c.1246G>T (p.Glu416Ter) rs1057519216
NM_004992.3(MECP2):c.1250A>T (p.Lys417Met) rs61753968
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1265_1289delinsAGCGGCCG (p.Gly422fs) rs63749064
NM_004992.3(MECP2):c.1266C>T (p.Gly422=) rs61753970
NM_004992.3(MECP2):c.126dup (p.His43fs) rs61754430
NM_004992.3(MECP2):c.1271_1416del (p.Leu424fs) rs1557134923
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1278C>T (p.Ser426=) rs267608619
NM_004992.3(MECP2):c.1279G>A (p.Asp427Asn)
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1284C>T (p.Gly428=) rs267608621
NM_004992.3(MECP2):c.1288C>T (p.Pro430Ser) rs267608622
NM_004992.3(MECP2):c.1289C>T (p.Pro430Leu) rs930563451
NM_004992.3(MECP2):c.1290dup (p.Lys431fs) rs587783095
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.1309C>A (p.Gln437Lys) rs1569548273
NM_004992.3(MECP2):c.1314_1315CG[1] (p.Ala439fs) rs1557135091
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1315G>T (p.Ala439Ser) rs61753973
NM_004992.3(MECP2):c.1317G>A (p.Ala439=) rs146632223
NM_004992.3(MECP2):c.1320dup (p.Ala441fs) rs267608624
NM_004992.3(MECP2):c.1324A>G (p.Thr442Ala) rs61753974
NM_004992.3(MECP2):c.1324_1364del (p.Thr442fs) rs267608625
NM_004992.3(MECP2):c.1326C>T (p.Thr442=) rs61751363
NM_004992.3(MECP2):c.1326_1334del (p.442_444TAA[1]) rs267608404
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) rs375101073
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1330_1342del (p.Ala444fs) rs63749065
NM_004992.3(MECP2):c.1332C>T (p.Ala444=) rs1204809030
NM_004992.3(MECP2):c.1335G>A (p.Thr445=) rs3027927
NM_004992.3(MECP2):c.1338C>T (p.Ala446=) rs782496297
NM_004992.3(MECP2):c.1338_1343del (p.Ala447_Glu448del) rs786205022
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) rs61753978
NM_004992.3(MECP2):c.1348dup (p.Tyr450fs) rs1557135004
NM_004992.3(MECP2):c.1350C>G (p.Tyr450Ter) rs1557134999
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.1364_1365insC (p.Glu455fs) rs267608627
NM_004992.3(MECP2):c.136G>A (p.Val46Met) rs587783134
NM_004992.3(MECP2):c.1372C>T (p.Arg458Cys) rs267608628
NM_004992.3(MECP2):c.1373G>A (p.Arg458His) rs185957513
NM_004992.3(MECP2):c.1374C>T (p.Arg458=) rs781825661
NM_004992.3(MECP2):c.1400C>G (p.Pro467Arg) rs782042904
NM_004992.3(MECP2):c.1403_1408del (p.Arg468_Pro469del) rs267608632
NM_004992.3(MECP2):c.1404G>A (p.Arg468=) rs267608633
NM_004992.3(MECP2):c.1408_1411delinsTG (p.Asn470fs) rs786205023
NM_004992.3(MECP2):c.140dup (p.Pro48fs) rs61754431
NM_004992.3(MECP2):c.1411_1412AG[2] (p.Glu472fs) rs267608634
NM_004992.3(MECP2):c.1412G>C (p.Arg471Thr) rs1057520310
NM_004992.3(MECP2):c.1419G>C (p.Glu473Asp) rs75498268
NM_004992.3(MECP2):c.1422T>C (p.Pro474=) rs1557134910
NM_004992.3(MECP2):c.1430G>C (p.Ser477Thr) rs267608328
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.1436C>T (p.Thr479Met) rs267608635
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.1438C>T (p.Pro480Ser) rs267608636
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1446C>T (p.Thr482=) rs76895094
NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) rs587777421
NM_004992.3(MECP2):c.1447G>T (p.Glu483Ter) rs587777421
NM_004992.3(MECP2):c.1448_*29del (p.Glu483fs) rs267608393
NM_004992.3(MECP2):c.1448_1449AG[1] (p.Arg484fs) rs267608638
NM_004992.3(MECP2):c.1448_1449AG[4] (p.Val485fs) rs267608638
NM_004992.3(MECP2):c.1449G>C (p.Glu483Asp) rs267608336
NM_004992.3(MECP2):c.1450_*12del (p.Arg484_Ter487del) rs267608637
NM_004992.3(MECP2):c.1450_*24del (p.Arg484_Ter487del) rs1557134792
NM_004992.3(MECP2):c.1451G>C (p.Arg484Thr) rs267608370
NM_004992.3(MECP2):c.1454_1457del (p.Val485fs) rs267608640
NM_004992.3(MECP2):c.1455_1456dup (p.Ser486fs) rs267608641
NM_004992.3(MECP2):c.1459T>C (p.Ter487Arg) rs267608337
NM_004992.3(MECP2):c.1460G>T (p.Ter487Leu) rs267608399
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) rs267608642
NM_004992.3(MECP2):c.1461A>G (p.Ter487Trp) rs267608642
NM_004992.3(MECP2):c.146C>A (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.153C>G (p.His51Gln) rs267608432
NM_004992.3(MECP2):c.155A>G (p.His52Arg) rs61754433
NM_004992.3(MECP2):c.167_168del (p.Pro56fs) rs267608434
NM_004992.3(MECP2):c.168C>T (p.Pro56=) rs61754435
NM_004992.3(MECP2):c.187_188GA[1] (p.Glu63fs) rs61754436
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) rs61754437
NM_004992.3(MECP2):c.1A>T (p.Met1Leu) rs786205892
NM_004992.3(MECP2):c.201del (p.Ser68fs) rs61754438
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.208T>C (p.Ser70Pro) rs1557137884
NM_004992.3(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.215C>T (p.Pro72Leu) rs61754440
NM_004992.3(MECP2):c.215_216insT (p.Ala73fs) rs1557137871
NM_004992.3(MECP2):c.215del (p.Pro72fs) rs61754441
NM_004992.3(MECP2):c.215dup (p.Ala73fs) rs61754441
NM_004992.3(MECP2):c.216G>A (p.Pro72=) rs781942427
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.229_238del (p.Ala77fs) rs63749009
NM_004992.3(MECP2):c.233del (p.Ser78fs) rs267608442
NM_004992.3(MECP2):c.235G>T (p.Ala79Ser) rs1557137845
NM_004992.3(MECP2):c.239C>G (p.Ser80Cys) rs1332969540
NM_004992.3(MECP2):c.243dup (p.Lys82fs) rs267608443
NM_004992.3(MECP2):c.244A>T (p.Lys82Ter)
NM_004992.3(MECP2):c.245A>G (p.Lys82Arg) rs61754444
NM_004992.3(MECP2):c.249_250ins7
NM_004992.3(MECP2):c.250C>T (p.Arg84Trp) rs1557137821
NM_004992.3(MECP2):c.251G>A (p.Arg84Gln) rs797044707
NM_004992.3(MECP2):c.253C>T (p.Arg85Cys) rs1064797047
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) rs61754445
NM_004992.3(MECP2):c.258_259del (p.Ile87fs) rs267608444
NM_004992.3(MECP2):c.26+2T>A rs267608409
NM_004992.3(MECP2):c.265C>T (p.Arg89Cys)
NM_004992.3(MECP2):c.27-12521_*5072del
NM_004992.3(MECP2):c.27-2A>G rs267608412
NM_004992.3(MECP2):c.27-3928_1184del
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
NM_004992.3(MECP2):c.27-4722_*739delins43
NM_004992.3(MECP2):c.27-55G>A rs267608414
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
NM_004992.3(MECP2):c.27-5778_1138del
NM_004992.3(MECP2):c.27-6026_1190delinsGT
NM_004992.3(MECP2):c.27-6215_1190del
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.27-8916_1212del
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-94_1207del
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.274G>T (p.Gly92Ter) rs267608445
NM_004992.3(MECP2):c.275del (p.Gly92fs) rs267608446
NM_004992.3(MECP2):c.275dup (p.Pro93fs) rs267608446
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.276_277insG (p.Pro93fs) rs267608405
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) rs61754447
NM_004992.3(MECP2):c.279C>T (p.Pro93=) rs267608447
NM_004992.3(MECP2):c.283_286del (p.Tyr95fs) rs1557137776
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) rs61754448
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) rs61754421
NM_004992.3(MECP2):c.28G>T (p.Glu10Ter) rs61754421
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) rs61754449
NM_004992.3(MECP2):c.295_297del (p.Thr99del) rs267608449
NM_004992.3(MECP2):c.297C>G (p.Thr99=) rs61754450
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) rs61754451
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>A (p.Pro101His) rs61754453
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.302C>T (p.Pro101Leu) rs61754453
NM_004992.3(MECP2):c.308G>A (p.Gly103Asp) rs267608450
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) rs267608451
NM_004992.3(MECP2):c.311G>A (p.Trp104Ter) rs61754455
NM_004992.3(MECP2):c.311_323del (p.Trp104fs) rs63749010
NM_004992.3(MECP2):c.312G>T (p.Trp104Cys) rs1557137745
NM_004992.3(MECP2):c.313A>C (p.Thr105Pro) rs1060499623
NM_004992.3(MECP2):c.315dup (p.Arg106fs) rs61754456
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) rs28934907
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.317G>A (p.Arg106Gln) rs61754457
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) rs61754457
NM_004992.3(MECP2):c.318_321dup (p.Leu108fs) rs786205025
NM_004992.3(MECP2):c.323T>A (p.Leu108His) rs61754458
NM_004992.3(MECP2):c.325A>G (p.Lys109Glu) rs886041732
NM_004992.3(MECP2):c.326dup (p.Gln110fs) rs267608452
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) rs61754459
NM_004992.3(MECP2):c.332G>A (p.Arg111Lys) rs1057518718
NM_004992.3(MECP2):c.334A>T (p.Lys112Ter) rs267608398
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) rs61755760
NM_004992.3(MECP2):c.341_349del (p.Gly114_Ser116del) rs1557137675
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.345del (p.Ser116fs) rs61755761
NM_004992.3(MECP2):c.353G>C (p.Gly118Ala) rs1557137672
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) rs267608454
NM_004992.3(MECP2):c.35_42dup (p.Asp15fs) rs63749008
NM_004992.3(MECP2):c.362A>G (p.Asp121Gly) rs61755762
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.365T>C (p.Val122Ala) rs267608456
NM_004992.3(MECP2):c.36G>C (p.Lys12Asn) rs61754422
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.375del (p.Asn126fs) rs267608457
NM_004992.3(MECP2):c.376A>G (p.Asn126Asp) rs1064796513
NM_004992.3(MECP2):c.377+18C>G rs267608461
NM_004992.3(MECP2):c.377+1G>A rs267608463
NM_004992.3(MECP2):c.377+1G>T rs267608463
NM_004992.3(MECP2):c.377+22C>G rs2075597
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+266T>C rs2075596
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.377+2dup rs1057518521
NM_004992.3(MECP2):c.377+30G>A rs786205014
NM_004992.3(MECP2):c.377+6_377+9delTAAG rs267608459
NM_004992.3(MECP2):c.377+95G>A rs267608460
NM_004992.3(MECP2):c.377A>G (p.Asn126Ser) rs786205037
NM_004992.3(MECP2):c.378-109A>G rs3850326
NM_004992.3(MECP2):c.378-10G>T rs1557137196
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.378-241C>T rs3027931
NM_004992.3(MECP2):c.378-2A>C rs267608464
NM_004992.3(MECP2):c.378-2A>G rs267608464
NM_004992.3(MECP2):c.378-2A>T rs267608464
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_004992.3(MECP2):c.378-42A>G rs786205893
NM_004992.3(MECP2):c.378-4del rs1557137191
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.378-70C>G rs782440655
NM_004992.3(MECP2):c.378-74C>G rs2071569
NM_004992.3(MECP2):c.378-74C>T rs2071569
NM_004992.3(MECP2):c.378T>C (p.Asn126=) rs782035249
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.381C>G (p.Pro127=) rs782752095
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) rs267608469
NM_004992.3(MECP2):c.382_1189del (p.Gln128fs) rs1557135463
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) rs61748383
NM_004992.3(MECP2):c.386G>T (p.Gly129Val) rs61748384
NM_004992.3(MECP2):c.387A>G (p.Gly129=) rs1557137159
NM_004992.3(MECP2):c.390del (p.Ala131fs) rs786205895
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) rs267608470
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>A (p.Arg133Ser) rs28934904
NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) rs28934904
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) rs61748389
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) rs267608471
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.409_1158del (p.Glu137_Leu386del) rs1557135739
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.411del (p.Glu137fs) rs61748393
NM_004992.3(MECP2):c.413T>A (p.Leu138Ter) rs267608475
NM_004992.3(MECP2):c.413T>C (p.Leu138Ser) rs267608475
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.420G>A (p.Ala140=) rs782082759
NM_004992.3(MECP2):c.420del (p.Tyr141fs) rs267608476
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) rs61748395
NM_004992.3(MECP2):c.422dup (p.Tyr141Ter) rs61748394
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.426C>T (p.Phe142=) rs61748397
NM_004992.3(MECP2):c.428_429insT (p.Glu143fs) rs61748398
NM_004992.3(MECP2):c.430A>T (p.Lys144Ter) rs61748399
NM_004992.3(MECP2):c.431A>G (p.Lys144Arg) rs786205016
NM_004992.3(MECP2):c.431del (p.Lys144fs) rs61748400
NM_004992.3(MECP2):c.438C>T (p.Gly146=) rs61748386
NM_004992.3(MECP2):c.439G>A (p.Asp147Asn) rs61748401
NM_004992.3(MECP2):c.439del (p.Asp147fs) rs62952161
NM_004992.3(MECP2):c.450G>C (p.Leu150=) rs1060504124
NM_004992.3(MECP2):c.451G>T (p.Asp151Tyr) rs1557137042
NM_004992.3(MECP2):c.451del (p.Asp151fs) rs61748402
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.45C>T (p.Asp15=)
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) rs61748406
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) rs61748407
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) rs61748407
NM_004992.3(MECP2):c.468C>A (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.468C>T (p.Asp156=) rs61748408
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.46C>T (p.Gln16Ter) rs61754424
NM_004992.3(MECP2):c.470_471del (p.Phe157fs) rs267608483
NM_004992.3(MECP2):c.470dup (p.Thr158fs) rs267608482
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) rs267608484
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.474G>A (p.Thr158=) rs61748413
NM_004992.3(MECP2):c.475del (p.Thr158_Val159insTer) rs267608485
NM_004992.3(MECP2):c.479C>G (p.Thr160Ser) rs61748414
NM_004992.3(MECP2):c.47_57del (p.Gln16fs) rs797045694
NM_004992.3(MECP2):c.480_481del (p.Gly161fs) rs267608486
NM_004992.3(MECP2):c.480del (p.Arg162fs) rs61748415
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) rs61748416
NM_004992.3(MECP2):c.481_987del507ins8
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) rs61748417
NM_004992.3(MECP2):c.482G>T (p.Gly161Val) rs61748417
NM_004992.3(MECP2):c.483del (p.Arg162fs) rs61748418
NM_004992.3(MECP2):c.484A>G (p.Arg162Gly) rs727505391
NM_004992.3(MECP2):c.484dup (p.Arg162fs) rs267608487
NM_004992.3(MECP2):c.487G>T (p.Gly163Trp) rs1557136974
NM_004992.3(MECP2):c.488_1189del (p.Gly163_Ser396del) rs1557135461
NM_004992.3(MECP2):c.488_489del (p.Gly163fs) rs267608488
NM_004992.3(MECP2):c.492C>T (p.Ser164=) rs1557136964
NM_004992.3(MECP2):c.495C>T (p.Pro165=) rs376821032
NM_004992.3(MECP2):c.495del (p.Ser166fs) rs267608489
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>A (p.Arg168=) rs61748421
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.506A>G (p.Glu169Gly) rs587783745
NM_004992.3(MECP2):c.508C>T (p.Gln170Ter) rs61748425
NM_004992.3(MECP2):c.50dup (p.Asp17fs) rs267608416
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.515C>T (p.Pro172Leu) rs267608491
NM_004992.3(MECP2):c.516A>G (p.Pro172=) rs1169814545
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.523A>T (p.Lys175Ter) rs61748428
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) rs61749701
NM_004992.3(MECP2):c.527C>T (p.Pro176Leu) rs61749701
NM_004992.3(MECP2):c.528C>G (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.528C>T (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.529A>T (p.Lys177Ter) rs61749702
NM_004992.3(MECP2):c.531del (p.Lys177fs) rs61749703
NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) rs782314807
NM_004992.3(MECP2):c.535C>G (p.Pro179Ala) rs1362774583
NM_004992.3(MECP2):c.538A>T (p.Lys180Ter) rs267608495
NM_004992.3(MECP2):c.542C>T (p.Ala181Val) rs61749705
NM_004992.3(MECP2):c.543T>C (p.Ala181=) rs1557136875
NM_004992.3(MECP2):c.543_544del (p.Pro182fs) rs267608496
NM_004992.3(MECP2):c.547G>C (p.Gly183Arg) rs61749706
NM_004992.3(MECP2):c.54C>A (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.54C>G (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.553G>A (p.Gly185Ser) rs587783135
NM_004992.3(MECP2):c.554del (p.Gly185fs) rs61749707
NM_004992.3(MECP2):c.556A>T (p.Arg186Ter) rs587783136
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.561C>A (p.Gly187=) rs200074866
NM_004992.3(MECP2):c.562C>T (p.Arg188Trp)
NM_004992.3(MECP2):c.566del (p.Gly189fs) rs61749708
NM_004992.3(MECP2):c.566dup (p.Arg190fs) rs61749708
NM_004992.3(MECP2):c.567dup (p.Arg190fs) rs61749709
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.569G>A (p.Arg190His) rs1557136818
NM_004992.3(MECP2):c.56dup (p.Leu21fs) rs267608417
NM_004992.3(MECP2):c.573C>T (p.Pro191=) rs61749710
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.582C>T (p.Ser194=) rs61749711
NM_004992.3(MECP2):c.585C>T (p.Gly195=) rs61749712
NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) rs61749713
NM_004992.3(MECP2):c.58G>C (p.Gly20Arg) rs1557138023
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.591G>A (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.591G>C (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.592A>T (p.Arg198Ter) rs61749717
NM_004992.3(MECP2):c.596C>A (p.Pro199His) rs267608502
NM_004992.3(MECP2):c.596C>G (p.Pro199Arg) rs267608502
NM_004992.3(MECP2):c.598A>T (p.Lys200Ter) rs61749718
NM_004992.3(MECP2):c.59del (p.Gly20fs)
NM_004992.3(MECP2):c.601dup (p.Ala201fs) rs267608503
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.603G>A (p.Ala201=) rs267608504
NM_004992.3(MECP2):c.605C>T (p.Ala202Val) rs587783138
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.608_609insA (p.Ser204fs) rs267608506
NM_004992.3(MECP2):c.609G>A (p.Thr203=) rs61749722
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.611_612delinsAG (p.Ser204Ter) rs267608507
NM_004992.3(MECP2):c.612_613AG[1] (p.Glu205fs)
NM_004992.3(MECP2):c.612dup (p.Glu205fs) rs1557136758
NM_004992.3(MECP2):c.613G>T (p.Glu205Ter) rs61749726
NM_004992.3(MECP2):c.616_1122del (p.Gly206_Glu374del) rs1557135847
NM_004992.3(MECP2):c.617G>A (p.Gly206Asp) rs63485860
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.617del (p.Gly206fs) rs61749727
NM_004992.3(MECP2):c.620T>C (p.Val207Ala) rs868943420
NM_004992.3(MECP2):c.620dup (p.Gln208fs) rs61749728
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) rs61749729
NM_004992.3(MECP2):c.623A>G (p.Gln208Arg)
NM_004992.3(MECP2):c.627G>A (p.Val209=) rs786205017
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) rs61749730
NM_004992.3(MECP2):c.633G>C (p.Arg211Ser) rs61749731
NM_004992.3(MECP2):c.634G>T (p.Val212Phe) rs1569548445
NM_004992.3(MECP2):c.635_655del (p.Val212_Lys219delinsGlu) rs267608509
NM_004992.3(MECP2):c.641_653del (p.Glu214fs) rs267608386
NM_004992.3(MECP2):c.649C>T (p.Pro217Ser) rs786205894
NM_004992.3(MECP2):c.64A>T (p.Lys22Ter) rs62641234
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.651_652del (p.Gly218fs) rs267608510
NM_004992.3(MECP2):c.654_657del (p.Lys219fs) rs61749734
NM_004992.3(MECP2):c.660C>T (p.Leu220=) rs267608512
NM_004992.3(MECP2):c.661C>G (p.Leu221Val) rs782357529
NM_004992.3(MECP2):c.665_671dup (p.Met224fs) rs797045695
NM_004992.3(MECP2):c.666C>G (p.Val222=) rs61749735
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) rs267608513
NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) rs61749715
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.676_677insA (p.Phe226fs) rs267608514
NM_004992.3(MECP2):c.677_678insA (p.Phe226fs) rs61749736
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.678del (p.Gln227fs) rs1060499621
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.687G>T (p.Ser229=) rs782461567
NM_004992.3(MECP2):c.689_756del (p.Pro230fs) rs1557136493
NM_004992.3(MECP2):c.690A>C (p.Pro230=) rs61749740
NM_004992.3(MECP2):c.690del (p.Gly232fs) rs1064793576
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.695G>A (p.Gly232Asp) rs61748422
NM_004992.3(MECP2):c.695G>C (p.Gly232Ala) rs61748422
NM_004992.3(MECP2):c.695del (p.Gly232fs) rs63260260
NM_004992.3(MECP2):c.695dup (p.Lys233fs) rs63260260
NM_004992.3(MECP2):c.696del (p.Lys233fs) rs61749741
NM_004992.3(MECP2):c.701C>A (p.Ala234Asp) rs138211345
NM_004992.3(MECP2):c.701C>G (p.Ala234Gly) rs138211345
NM_004992.3(MECP2):c.701C>T (p.Ala234Val) rs138211345
NM_004992.3(MECP2):c.701_1275del (p.Ala234fs) rs1569548274
NM_004992.3(MECP2):c.710G>T (p.Gly237Val) rs62846063
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743
NM_004992.3(MECP2):c.711_1269del (p.Gly238fs) rs1557135125
NM_004992.3(MECP2):c.714G>A (p.Gly238=) rs369813305
NM_004992.3(MECP2):c.715del (p.Ala239fs) rs61749744
NM_004992.3(MECP2):c.716C>A (p.Ala239Asp) rs1557136591
NM_004992.3(MECP2):c.717C>A (p.Ala239=) rs1057520963
NM_004992.3(MECP2):c.71A>G (p.Lys24Arg)
NM_004992.3(MECP2):c.720C>G (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.720C>T (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.720dup (p.Thr241fs) rs267608518
NM_004992.3(MECP2):c.727A>G (p.Thr243Ala) rs782145652
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_004992.3(MECP2):c.72A>G (p.Lys24=) rs782202329
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.731_1166del (p.Gln244fs) rs1557135670
NM_004992.3(MECP2):c.734_759del (p.Val245fs) rs267608519
NM_004992.3(MECP2):c.735C>G (p.Val245=) rs782027467
NM_004992.3(MECP2):c.736_737insAT (p.Met246fs) rs61749749
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.739del (p.Met246_Val247insTer) rs61749750
NM_004992.3(MECP2):c.744C>G (p.Ile248Met)
NM_004992.3(MECP2):c.747_751dup (p.Pro251fs) rs1557136523
NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) rs141382970
NM_004992.3(MECP2):c.748_749insT (p.Arg250fs) rs1557136549
NM_004992.3(MECP2):c.748_753delinsGGCCG (p.Arg250fs) rs61750225
NM_004992.3(MECP2):c.748dup (p.Arg250fs) rs61749752
NM_004992.3(MECP2):c.749G>A (p.Arg250His) rs61750227
NM_004992.3(MECP2):c.749_750insT (p.Gly252fs)
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.750_774dup (p.Ala259delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_004992.3(MECP2):c.750delinsTCAGGAAGCTT (p.Pro251fs) rs267608521
NM_004992.3(MECP2):c.752C>T (p.Pro251Leu) rs61750229
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.753del (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.755dup (p.Arg253fs) rs61750232
NM_004992.3(MECP2):c.756_759del (p.Arg253fs) rs267608523
NM_004992.3(MECP2):c.756_763dup (p.Arg255fs) rs61750235
NM_004992.3(MECP2):c.760A>T (p.Lys254Ter) rs63259763
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.764_765ins8
NM_004992.3(MECP2):c.765_1158del (p.Lys256fs) rs1557135734
NM_004992.3(MECP2):c.766A>T (p.Lys256Ter) rs786205027
NM_004992.3(MECP2):c.766_779dup (p.Asp260fs) rs267608524
NM_004992.3(MECP2):c.767_1175del (p.Lys256fs) rs1557135596
NM_004992.3(MECP2):c.76C>G (p.Leu26Val)
NM_004992.3(MECP2):c.76del (p.Leu26fs) rs61754426
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.784C>G (p.Gln262Glu) rs267608525
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) rs267608525
NM_004992.3(MECP2):c.785_818del (p.Gln262fs) rs786205028
NM_004992.3(MECP2):c.792_793del (p.Pro265fs) rs267608526
NM_004992.3(MECP2):c.795C>G (p.Pro265=) rs267608527
NM_004992.3(MECP2):c.799A>T (p.Lys267Ter) rs61750238
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.807_*125del (p.Gly269_Ter487delinsXaa) rs1557134716
NM_004992.3(MECP2):c.807_819dup (p.Ser274fs) rs587783091
NM_004992.3(MECP2):c.808C>G (p.Arg270Gly) rs61750240
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.810_813del (p.Lys271fs) rs267608529
NM_004992.3(MECP2):c.812_818del (p.Lys271fs) rs61750242
NM_004992.3(MECP2):c.815C>T (p.Pro272Leu) rs61750243
NM_004992.3(MECP2):c.815del (p.Pro272fs) rs1057518568
NM_004992.3(MECP2):c.816G>A (p.Pro272=) rs587783746
NM_004992.3(MECP2):c.816_832del (p.Gly273fs) rs63749012
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.819del (p.Ser274fs) rs267608530
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.822_1184del (p.Val275_Ser395del) rs1557135541
NM_004992.3(MECP2):c.822_823TG[1] (p.Val275fs) rs1557136374
NM_004992.3(MECP2):c.824T>C (p.Val275Ala) rs143989769
NM_004992.3(MECP2):c.830C>T (p.Ala277Val) rs1569548411
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.830del (p.Ala277fs) rs61750247
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.836C>T (p.Ala279Val) rs61750249
NM_004992.3(MECP2):c.839_841CCG[1] (p.Ala281del) rs1569548405
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) rs782239416
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.849C>G (p.Ala283=) rs61750253
NM_004992.3(MECP2):c.849_1236del (p.Lys284fs) rs1557135197
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.851_1188del (p.Lys284fs) rs1557135499
NM_004992.3(MECP2):c.852_855AAAG[1] (p.Lys286fs) rs61750256
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531
NM_004992.3(MECP2):c.854dup (p.Lys286fs) rs267608531
NM_004992.3(MECP2):c.855_859delinsAAAAAAAAGACT (p.Ala287fs) rs786205030
NM_004992.3(MECP2):c.857A>G (p.Lys286Arg) rs267608533
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.861C>T (p.Ala287=) rs139378224
NM_004992.3(MECP2):c.862G>A (p.Val288Met) rs782455664
NM_004992.3(MECP2):c.864dup (p.Lys289fs) rs267608535
NM_004992.3(MECP2):c.865A>T (p.Lys289Ter) rs61750259
NM_004992.3(MECP2):c.865_866del (p.Lys289fs) rs267608536
NM_004992.3(MECP2):c.867_1223delinsA (p.Ser291fs) rs1557135218
NM_004992.3(MECP2):c.869_880delinsCACA (p.Glu290fs) rs786205031
NM_004992.3(MECP2):c.869dup (p.Ser291fs) rs267608538
NM_004992.3(MECP2):c.870G>A (p.Glu290=) rs587781032
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) rs61751360
NM_004992.3(MECP2):c.871_1044del (p.Ile293_Ser350del) rs1557136013
NM_004992.3(MECP2):c.872C>G (p.Ser291Cys) rs1326849768
NM_004992.3(MECP2):c.874_875insA (p.Ser292fs) rs61751361
NM_004992.3(MECP2):c.879C>G (p.Ile293Met) rs587783140
NM_004992.3(MECP2):c.880_884del (p.Arg294fs) rs61751364
NM_004992.3(MECP2):c.881G>C (p.Arg294Pro) rs61751366
NM_004992.3(MECP2):c.881_1172del (p.Arg294fs)
NM_004992.3(MECP2):c.881_902del (p.Arg294fs) rs267608540
NM_004992.3(MECP2):c.882A>G (p.Arg294=) rs782744332
NM_004992.3(MECP2):c.883del (p.Ser295fs) rs267608541
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.894_1095del (p.Glu298fs) rs1557135907
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.898_1099del (p.Val300fs) rs1557135893
NM_004992.3(MECP2):c.898_1166del (p.Val300fs) rs1557135666
NM_004992.3(MECP2):c.898_901del (p.Val300fs) rs62701461
NM_004992.3(MECP2):c.898_904del (p.Val300fs) rs267608543
NM_004992.3(MECP2):c.898del (p.Val300fs) rs267608544
NM_004992.3(MECP2):c.900_908del (p.Leu301_Ile303del) rs267608545
NM_004992.3(MECP2):c.901C>T (p.Leu301Phe) rs1557136251
NM_004992.3(MECP2):c.903C>T (p.Leu301=) rs61751372
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) rs61751373
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) rs61751373
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) rs61751373
NM_004992.3(MECP2):c.905C>A (p.Pro302His) rs61749723
NM_004992.3(MECP2):c.905C>G (p.Pro302Arg) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.906C>G (p.Pro302=) rs61751438
NM_004992.3(MECP2):c.906_1138delinsAC (p.Ile303_Val380delinsLeu) rs1557135788
NM_004992.3(MECP2):c.906del (p.Ile303fs) rs267608548
NM_004992.3(MECP2):c.907A>G (p.Ile303Val) rs1057522038
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) rs267608549
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.90G>A (p.Lys30=) rs398124187
NM_004992.3(MECP2):c.910A>C (p.Lys304Gln) rs61751440
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) rs61751440
NM_004992.3(MECP2):c.911A>G (p.Lys304Arg) rs267608550
NM_004992.3(MECP2):c.912G>C (p.Lys304Asn)
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) rs267608551
NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) rs61751441
NM_004992.3(MECP2):c.914_1172del (p.Lys305fs) rs1557135622
NM_004992.3(MECP2):c.915G>T (p.Lys305Asn) rs1057519543
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.917G>C (p.Arg306Pro) rs61751443
NM_004992.3(MECP2):c.917G>T (p.Arg306Leu) rs61751443
NM_004992.3(MECP2):c.919A>G (p.Lys307Glu) rs1131691480
NM_004992.3(MECP2):c.91del (p.Lys30_Val31insTer) rs61754427
NM_004992.3(MECP2):c.923C>G (p.Thr308Ser) rs1557136171
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.936C>T (p.Val312=) rs398124188
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3(MECP2):c.946_1212del (p.Val316_Glu404del)
NM_004992.3(MECP2):c.948C>G (p.Val316=) rs61751447
NM_004992.3(MECP2):c.952dup (p.Glu318fs)
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.955G>A (p.Val319Met) rs1569548388
NM_004992.3(MECP2):c.962_1267delinsG (p.Lys321fs) rs1557135128
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) rs61751449
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.965_970del (p.Pro322_Leu323del) rs61751452
NM_004992.3(MECP2):c.981C>T (p.Thr327=) rs1015722593
NM_004992.3(MECP2):c.982C>G (p.Leu328Val) rs267608556
NM_004992.3(MECP2):c.984C>A (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.984C>T (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.985G>A (p.Gly329Ser) rs201871183
NM_004992.3(MECP2):c.989_991AGA[1] (p.Lys331del) rs61751456
NM_004992.3(MECP2):c.992A>G (p.Lys331Arg) rs267608557
NM_004992.3(MECP2):c.994_1346del (p.Ser332fs) rs1557135016
NM_004992.3(MECP2):c.994_998del (p.Ser332fs) rs267608558
NM_004992.3(MECP2):c.995G>A (p.Ser332Asn)
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_004992.3(MECP2):c.997_1001del (p.Gly333fs) rs1569548376
NM_004992.3(MECP2):c.999G>T (p.Gly333=) rs61751451
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
NM_004992.3:c.(?_-226)_(*1_?)dup
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.-99+303_-99+304insC
NM_004992.3:c.343_1182del
NM_004992.3:c.377+266T>C
Single allele

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