NM_001110792.2(MECP2):c.413+266T>C
|
rs2075596
|
0.84600
|
NM_001110792.2(MECP2):c.*878C>G
|
rs3027924
|
0.17278
|
NM_001110792.2(MECP2):c.*1737G>A
|
rs3027922
|
0.06002
|
NM_001110792.2(MECP2):c.414-109A>G
|
rs3850326
|
0.04029
|
NM_001110792.2(MECP2):c.*4576A>C
|
rs3027920
|
0.02376
|
NM_001110792.2(MECP2):c.*7748C>T
|
rs3027917
|
0.02184
|
NM_001110792.2(MECP2):c.*7856A>C
|
rs3027915
|
0.01876
|
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
NM_001110792.2(MECP2):c.414-74C>T
|
rs2071569
|
0.01484
|
NM_001110792.2(MECP2):c.413+22C>G
|
rs2075597
|
0.00778
|
NM_001110792.2(MECP2):c.*3878G>C
|
rs148230889
|
0.00683
|
NM_001110792.2(MECP2):c.*489G>C
|
rs111565519
|
0.00505
|
NM_001110792.2(MECP2):c.*328G>A
|
rs62621673
|
0.00480
|
NM_001110792.2(MECP2):c.*3477G>A
|
rs56036177
|
0.00360
|
NM_001110792.2(MECP2):c.*2956G>A
|
rs267608358
|
0.00342
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001110792.2(MECP2):c.*2657G>A
|
rs3027921
|
0.00301
|
NM_001110792.2(MECP2):c.413+28A>G
|
rs185036026
|
0.00301
|
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)
|
rs61749738
|
0.00291
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_001110792.2(MECP2):c.413+95G>A
|
rs267608460
|
0.00223
|
NM_001110792.2(MECP2):c.*544G>A
|
rs183349022
|
0.00200
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_001110792.2(MECP2):c.*861T>G
|
rs187614438
|
0.00196
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)
|
rs61752362
|
0.00157
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_001110792.2(MECP2):c.*393G>A
|
rs267608361
|
0.00111
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
NM_001110792.2(MECP2):c.*554G>A
|
rs267608353
|
0.00083
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001110792.2(MECP2):c.*487G>C
|
rs267608325
|
0.00073
|
NM_001110792.2(MECP2):c.*93G>A
|
rs267608326
|
0.00072
|
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001110792.2(MECP2):c.*371G>C
|
rs187851059
|
0.00062
|
NM_001110792.2(MECP2):c.*1237T>C
|
rs267608365
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)
|
rs61750252
|
0.00050
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
NM_001110792.2(MECP2):c.885C>G (p.Ala295=)
|
rs61750253
|
0.00042
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
NM_001110792.2(MECP2):c.*3662A>G
|
rs267608366
|
0.00038
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)
|
rs140191561
|
0.00035
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001110792.2(MECP2):c.*363G>C
|
rs62621675
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.876C>T (p.Ala292=)
|
rs61750251
|
0.00022
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001110792.2(MECP2):c.462C>T (p.Phe154=)
|
rs61748397
|
0.00020
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=)
|
rs63586860
|
0.00019
|
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)
|
rs61749739
|
0.00019
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
NM_001110792.2(MECP2):c.621C>T (p.Gly207=)
|
rs61749712
|
0.00017
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro)
|
rs782243032
|
0.00015
|
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)
|
rs61751363
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_001110792.2(MECP2):c.75A>G (p.Ser25=)
|
rs782561844
|
0.00015
|
NM_001110792.2(MECP2):c.*2556T>A
|
rs267608356
|
0.00014
|
NM_001110792.2(MECP2):c.*359G>C
|
rs62621674
|
0.00014
|
NM_001110792.2(MECP2):c.*55C>G
|
rs267608344
|
0.00014
|
NM_001110792.2(MECP2):c.*13C>T
|
rs782334844
|
0.00013
|
NM_001110792.2(MECP2):c.771C>G (p.Val257=)
|
rs782027467
|
0.00013
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001110792.2(MECP2):c.897C>T (p.Ala299=)
|
rs139378224
|
0.00013
|
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894
|
0.00012
|
NM_001110792.2(MECP2):c.171C>T (p.Pro57=)
|
rs139477857
|
0.00012
|
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
|
rs61753971
|
0.00011
|
NM_001110792.2(MECP2):c.*3658C>T
|
rs267608359
|
0.00010
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.204C>T (p.Pro68=)
|
rs61754435
|
0.00010
|
NM_001110792.2(MECP2):c.639G>A (p.Ala213=)
|
rs267608504
|
0.00010
|
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)
|
rs61748422
|
0.00010
|
NM_001110792.2(MECP2):c.*806G>A
|
rs267608363
|
0.00009
|
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
NM_001110792.2(MECP2):c.627G>A (p.Thr209=)
|
rs61749716
|
0.00009
|
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)
|
rs63485860
|
0.00009
|
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)
|
rs61749746
|
0.00009
|
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)
|
rs61750243
|
0.00009
|
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu)
|
rs61748387
|
0.00008
|
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu)
|
rs267608491
|
0.00008
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=)
|
rs61753964
|
0.00007
|
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)
|
rs61752361
|
0.00006
|
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)
|
rs61750236
|
0.00006
|
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)
|
rs782050077
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.414-20C>G
|
rs368684221
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
NM_001110792.2(MECP2):c.*8500C>G
|
rs267608391
|
0.00005
|
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg)
|
rs782344115
|
0.00005
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00005
|
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)
|
rs62915962
|
0.00005
|
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)
|
rs376324027
|
0.00005
|
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=)
|
rs146632223
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001110792.2(MECP2):c.510G>A (p.Thr170=)
|
rs61748413
|
0.00005
|
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)
|
rs61749701
|
0.00005
|
NM_001110792.2(MECP2):c.696C>T (p.Leu232=)
|
rs267608512
|
0.00005
|
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)
|
rs201871183
|
0.00004
|
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala)
|
rs782171742
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)
|
rs61753970
|
0.00004
|
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)
|
rs781825661
|
0.00004
|
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)
|
rs369813305
|
0.00004
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met)
|
rs587783140
|
0.00004
|
NM_001110792.2(MECP2):c.*92C>T
|
rs62621672
|
0.00003
|
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)
|
rs797045691
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)
|
rs267608619
|
0.00003
|
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val)
|
rs782805738
|
0.00003
|
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=)
|
rs781964746
|
0.00003
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.172G>A (p.Val58Met)
|
rs587783134
|
0.00003
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
NM_001110792.2(MECP2):c.261G>A (p.Pro87=)
|
rs61754442
|
0.00003
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_001110792.2(MECP2):c.484C>T (p.Leu162=)
|
rs371082040
|
0.00003
|
NM_001110792.2(MECP2):c.531C>T (p.Pro177=)
|
rs376821032
|
0.00003
|
NM_001110792.2(MECP2):c.726A>C (p.Pro242=)
|
rs61749740
|
0.00003
|
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)
|
rs587783746
|
0.00003
|
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr)
|
rs782086416
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.*5839C>T
|
rs267608368
|
0.00002
|
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)
|
rs782202329
|
0.00002
|
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)
|
rs61752373
|
0.00002
|
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=)
|
rs374900442
|
0.00002
|
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser)
|
rs267608622
|
0.00002
|
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu)
|
rs930563451
|
0.00002
|
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys)
|
rs267608628
|
0.00002
|
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr)
|
rs267608370
|
0.00002
|
NM_001110792.2(MECP2):c.189C>T (p.His63=)
|
rs267608432
|
0.00002
|
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)
|
rs61754444
|
0.00002
|
NM_001110792.2(MECP2):c.413+18C>G
|
rs267608461
|
0.00002
|
NM_001110792.2(MECP2):c.414-6C>G
|
rs782482746
|
0.00002
|
NM_001110792.2(MECP2):c.414-70C>G
|
rs782440655
|
0.00002
|
NM_001110792.2(MECP2):c.414T>C (p.Asn138=)
|
rs782035249
|
0.00002
|
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)
|
rs782419414
|
0.00002
|
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)
|
rs61749722
|
0.00002
|
NM_001110792.2(MECP2):c.702C>G (p.Val234=)
|
rs61749735
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001110792.2(MECP2):c.81C>T (p.Asp27=)
|
rs782168400
|
0.00002
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.918A>G (p.Arg306=)
|
rs782744332
|
0.00002
|
NM_001110792.2(MECP2):c.*8C>T
|
rs267608330
|
0.00001
|
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr)
|
rs1557136107
|
0.00001
|
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=)
|
rs782242577
|
0.00001
|
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=)
|
rs782228941
|
0.00001
|
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=)
|
rs782085130
|
0.00001
|
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln)
|
rs1336019373
|
0.00001
|
NM_001110792.2(MECP2):c.1137C>T (p.His379=)
|
rs1336019373
|
0.00001
|
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr)
|
rs375477214
|
0.00001
|
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=)
|
rs782221170
|
0.00001
|
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=)
|
rs61753009
|
0.00001
|
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=)
|
rs782775618
|
0.00001
|
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)
|
rs62707562
|
0.00001
|
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr)
|
rs150146088
|
0.00001
|
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=)
|
rs61753967
|
0.00001
|
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=)
|
rs267608621
|
0.00001
|
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln)
|
rs781829911
|
0.00001
|
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=)
|
rs782706777
|
0.00001
|
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)
|
rs61753978
|
0.00001
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met)
|
rs267608635
|
0.00001
|
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)
|
rs267608636
|
0.00001
|
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=)
|
rs76895094
|
0.00001
|
NM_001110792.2(MECP2):c.252G>A (p.Pro84=)
|
rs781942427
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001110792.2(MECP2):c.315C>T (p.Pro105=)
|
rs267608447
|
0.00001
|
NM_001110792.2(MECP2):c.333C>G (p.Thr111=)
|
rs61754450
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.573C>G (p.Pro191=)
|
rs782676768
|
0.00001
|
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg)
|
rs61749706
|
0.00001
|
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser)
|
rs373329231
|
0.00001
|
NM_001110792.2(MECP2):c.633C>G (p.Pro211=)
|
rs782619288
|
0.00001
|
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly)
|
rs782777382
|
0.00001
|
NM_001110792.2(MECP2):c.831C>G (p.Pro277=)
|
rs267608527
|
0.00001
|
NM_001110792.2(MECP2):c.846A>G (p.Arg282=)
|
rs782743949
|
0.00001
|
NM_001110792.2(MECP2):c.888A>G (p.Lys296=)
|
rs1475733695
|
0.00001
|
NM_001110792.2(MECP2):c.898G>A (p.Val300Met)
|
rs782455664
|
0.00001
|
NM_001110792.2(MECP2):c.984C>G (p.Val328=)
|
rs61751447
|
0.00001
|
GRCh37/hg19 Xq28(chrX:153292180-153296464)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153295624-153296445)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153296295-153296464)x2
|
|
|
NM_001110792.2(MECP2):c.*1134G>A
|
rs267608390
|
|
NM_001110792.2(MECP2):c.*156G>T
|
|
|
NM_001110792.2(MECP2):c.*2706G>A
|
rs267608357
|
|
NM_001110792.2(MECP2):c.*36G>C
|
rs267608347
|
|
NM_001110792.2(MECP2):c.*4084GT[1]
|
rs267608367
|
|
NM_001110792.2(MECP2):c.*529G>T
|
rs267608362
|
|
NM_001110792.2(MECP2):c.*5478AT[6]
|
rs202139104
|
|
NM_001110792.2(MECP2):c.*810G>T
|
|
|
NM_001110792.2(MECP2):c.*831G>C
|
rs190920575
|
|
NM_001110792.2(MECP2):c.*8503del
|
rs267608360
|
|
NM_001110792.2(MECP2):c.*8503dup
|
rs267608360
|
|
NM_001110792.2(MECP2):c.*875dup
|
rs267608364
|
|
NM_001110792.2(MECP2):c.*98dup
|
rs267608341
|
|
NM_001110792.2(MECP2):c.1002C>T (p.Pro334=)
|
|
|
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=)
|
rs61751442
|
|
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=)
|
|
|
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg)
|
rs267608557
|
|
NM_001110792.2(MECP2):c.1035G>T (p.Gly345=)
|
rs61751451
|
|
NM_001110792.2(MECP2):c.1037A>G (p.Lys346Arg)
|
|
|
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
|
|
|
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His)
|
rs61748387
|
|
NM_001110792.2(MECP2):c.1101C>T (p.Ser367=)
|
rs267608563
|
|
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly)
|
rs2148661316
|
|
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln)
|
rs2148660984
|
|
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln)
|
rs2148660959
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1177C>G (p.Pro393Ala)
|
rs61752981
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
NM_001110792.2(MECP2):c.1194G>A (p.Leu398=)
|
|
|
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)
|
rs61753000
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr)
|
rs62707562
|
|
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser)
|
rs150146088
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del)
|
rs2065909462
|
|
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe)
|
rs2065909328
|
|
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg)
|
rs2148659263
|
|
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)
|
rs1210814372
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu)
|
|
|
NM_001110792.2(MECP2):c.1414G>C (p.Asp472His)
|
|
|
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr)
|
rs2065902151
|
|
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)
|
rs2148658484
|
|
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)
|
rs75498268
|
|
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)
|
rs267608328
|
|
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)
|
rs61754433
|
|
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu)
|
rs2065982277
|
|
NM_001110792.2(MECP2):c.413+15C>G
|
|
|
NM_001110792.2(MECP2):c.413+30G>A
|
rs786205014
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.414-18_414-15del
|
rs782156136
|
|
NM_001110792.2(MECP2):c.414-241C>T
|
rs3027931
|
|
NM_001110792.2(MECP2):c.414-5C>T
|
|
|
NM_001110792.2(MECP2):c.414-65C>G
|
|
|
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg)
|
rs786205016
|
|
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn)
|
rs61748401
|
|
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala)
|
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.564C>T (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.609C>T (p.Pro203=)
|
rs61749710
|
|
NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser)
|
rs782806083
|
|
NM_001110792.2(MECP2):c.62+304dup
|
rs11368467
|
|
NM_001110792.2(MECP2):c.62+5503del
|
rs372915987
|
|
NM_001110792.2(MECP2):c.632C>A (p.Pro211His)
|
rs267608502
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
NM_001110792.2(MECP2):c.663G>A (p.Val221=)
|
rs786205017
|
|
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val)
|
rs782473355
|
|
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)
|
rs61749737
|
|
NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg)
|
|
|
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn)
|
rs61754422
|
|
NM_001110792.2(MECP2):c.756C>G (p.Thr252=)
|
rs61749746
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
NM_001110792.2(MECP2):c.786C>A (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.786C>T (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu)
|
rs61750229
|
|
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly)
|
rs2148662683
|
|
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.906G>A (p.Glu302=)
|
rs587781032
|
|
NM_001110792.2(MECP2):c.917G>C (p.Arg306Pro)
|
rs61751366
|
|
NM_001110792.2(MECP2):c.939C>G (p.Leu313=)
|
|
|
NM_001110792.2(MECP2):c.939C>T (p.Leu313=)
|
rs61751372
|
|
NM_001110792.2(MECP2):c.942C>G (p.Pro314=)
|
rs61751438
|
|