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.414-61C>G
|
rs191076920
|
0.00056
|
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.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.*5348T>C
|
rs267608346
|
0.00025
|
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.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.1362C>T (p.Thr454=)
|
rs61751363
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
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.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894
|
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.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.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.*177G>C
|
rs267608345
|
0.00005
|
NM_001110792.2(MECP2):c.*8500C>G
|
rs267608391
|
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.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)
|
rs267608336
|
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.*767G>T
|
rs267608354
|
0.00004
|
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)
|
rs201871183
|
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.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
NM_001110792.2(MECP2):c.*92C>T
|
rs62621672
|
0.00003
|
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)
|
rs267608619
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
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.726A>C (p.Pro242=)
|
rs61749740
|
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.1117C>G (p.Pro373Ala)
|
rs61752373
|
0.00002
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser)
|
rs267608622
|
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.251C>T (p.Pro84Leu)
|
rs61754440
|
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.414-70C>G
|
rs782440655
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
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.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.*8C>T
|
rs267608330
|
0.00001
|
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val)
|
rs267608556
|
0.00001
|
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=)
|
rs782242577
|
0.00001
|
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=)
|
rs61753009
|
0.00001
|
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)
|
rs62707562
|
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.1376C>T (p.Ala459Val)
|
rs61753978
|
0.00001
|
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln)
|
rs61753980
|
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.315C>T (p.Pro105=)
|
rs267608447
|
0.00001
|
NM_001110792.2(MECP2):c.333C>G (p.Thr111=)
|
rs61754450
|
0.00001
|
NM_001110792.2(MECP2):c.413+24C>A
|
rs267608462
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)
|
rs61748414
|
0.00001
|
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)
|
rs267608492
|
0.00001
|
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg)
|
rs61749706
|
0.00001
|
NM_001110792.2(MECP2):c.62+5380C>T
|
rs267608324
|
0.00001
|
NM_001110792.2(MECP2):c.831C>G (p.Pro277=)
|
rs267608527
|
0.00001
|
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly)
|
rs61750240
|
0.00001
|
NM_001110792.2(MECP2):c.984C>G (p.Val328=)
|
rs61751447
|
0.00001
|
NM_001110792.2(MECP2):c.*1134G>A
|
rs267608390
|
|
NM_001110792.2(MECP2):c.*122del
|
rs267608342
|
|
NM_001110792.2(MECP2):c.*204G>A
|
rs267608352
|
|
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.*796_*822del
|
rs267608375
|
|
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.*92C>G
|
rs62621672
|
|
NM_001110792.2(MECP2):c.*98dup
|
rs267608341
|
|
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.1001_1006del (p.Pro334_Leu335del)
|
rs61751452
|
|
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter)
|
rs62641234
|
|
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=)
|
rs61751442
|
|
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del)
|
rs61751456
|
|
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs)
|
rs61751456
|
|
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg)
|
rs267608557
|
|
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.1035G>T (p.Gly345=)
|
rs61751451
|
|
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs)
|
rs267608376
|
|
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.1050C>T (p.Thr350=)
|
rs267608400
|
|
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.1065del (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs)
|
rs61751457
|
|
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.1077_*29del (p.Lys359_Ter499delinsXaa)
|
rs1557134784
|
|
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs)
|
rs267608380
|
|
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.1087_1090del (p.Pro363fs)
|
rs267608377
|
|
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del)
|
rs267608384
|
|
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.1095_1108del (p.Arg366fs)
|
rs267608378
|
|
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His)
|
rs61748387
|
|
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs)
|
rs267608381
|
|
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.1101C>T (p.Ser367=)
|
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.1124_1151del (p.Lys375fs)
|
rs267608385
|
|
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.1140C>T (p.His380=)
|
rs61752382
|
|
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del)
|
rs267608371
|
|
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs)
|
rs1557135213
|
|
NM_001110792.2(MECP2):c.1141del (p.His381fs)
|
rs267608568
|
|
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg)
|
rs1557135313
|
|
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.1154C>G (p.Ser385Ter)
|
rs267608569
|
|
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.1161_1173del (p.Pro388fs)
|
rs267608340
|
|
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg)
|
rs61752976
|
|
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.1164_1215del (p.Lys389fs)
|
rs1557135571
|
|
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs)
|
rs1557134378
|
|
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs)
|
rs267608379
|
|
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs)
|
rs1557135423
|
|
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs)
|
rs267608348
|
|
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.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs)
|
rs267608389
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1177C>G (p.Pro393Ala)
|
rs61752981
|
|
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.1184_1213del (p.Leu395_Glu404del)
|
rs267608350
|
|
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_1208del (p.Leu398_Pro403del)
|
rs267608392
|
|
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_1227del (p.Leu398fs)
|
rs267608586
|
|
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis)
|
rs63749028
|
|
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_1210del (p.Pro399fs)
|
rs267608373
|
|
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs)
|
rs63749030
|
|
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)
|
rs1557135251
|
|
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_1199del (p.Pro403del)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del)
|
rs267608401
|
|
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer)
|
rs267608596
|
|
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)
|
rs1557134946
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
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_1209del (p.Pro400fs)
|
rs267608334
|
|
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_1237del (p.Pro400_Ser413delinsArg)
|
rs267608602
|
|
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_1212del (p.Pro403fs)
|
rs267608349
|
|
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs)
|
rs267608369
|
|
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del)
|
rs267608335
|
|
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu)
|
rs267608402
|
|
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs)
|
rs267608383
|
|
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs)
|
rs786205021
|
|
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)
|
rs267608333
|
|
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs)
|
rs267608403
|
|
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs)
|
rs63749018
|
|
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter)
|
rs56268439
|
|
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs)
|
rs267608338
|
|
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
|
|
|
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.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
|
|
|
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.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)
|
rs267608615
|
|
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.1268_1272del (p.Ser423fs)
|
rs267608351
|
|
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del)
|
rs63749027
|
|
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs)
|
rs786205036
|
|
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)
|
rs267608617
|
|
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs)
|
rs267608374
|
|
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
|
rs61754427
|
|
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)
|
rs61753968
|
|
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs)
|
rs63749064
|
|
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs)
|
rs1557134923
|
|
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)
|
rs61753972
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs)
|
rs267608624
|
|
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala)
|
rs61753974
|
|
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs)
|
rs267608625
|
|
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])
|
rs267608404
|
|
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs)
|
rs63749065
|
|
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs)
|
rs61754428
|
|
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del)
|
rs786205022
|
|
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.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)
|
rs267608328
|
|
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs)
|
rs267608393
|
|
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.1495T>C (p.Ter499Arg)
|
rs267608337
|
|
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)
|
rs267608399
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)
|
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.182C>G (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.189C>G (p.His63Gln)
|
rs267608432
|
|
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)
|
rs61754433
|
|
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)
|
rs267608434
|
|
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs)
|
rs61754436
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
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.265_274del (p.Ala89fs)
|
rs63749009
|
|
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.312_313insG (p.Pro105fs)
|
rs267608405
|
|
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[6] (p.Gly16dup)
|
rs587783744
|
|
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.370A>T (p.Lys124Ter)
|
rs267608398
|
|
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala)
|
rs61755760
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp)
|
rs267608454
|
|
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly)
|
rs61755762
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala)
|
rs267608456
|
|
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.413+30G>A
|
rs786205014
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser)
|
rs786205037
|
|
NM_001110792.2(MECP2):c.414-14G>A
|
rs267608467
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.414-241C>T
|
rs3027931
|
|
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.414-3_419del
|
rs267608466
|
|
NM_001110792.2(MECP2):c.414-74C>G
|
rs2071569
|
|
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.446A>G (p.Glu149Gly)
|
rs61748392
|
|
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.458dup (p.Tyr153Ter)
|
rs61748394
|
|
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.467A>G (p.Lys156Arg)
|
rs786205016
|
|
NM_001110792.2(MECP2):c.467del (p.Lys156fs)
|
rs61748400
|
|
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn)
|
rs61748401
|
|
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.49G>A (p.Glu17Lys)
|
rs786205046
|
|
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.504C>T (p.Asp168=)
|
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.531del (p.Ser178fs)
|
rs267608489
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
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.550C>T (p.Pro184Ser)
|
rs61748426
|
|
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter)
|
rs61748428
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter)
|
rs61749702
|
|
NM_001110792.2(MECP2):c.567del (p.Lys189fs)
|
rs61749703
|
|
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter)
|
rs267608495
|
|
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)
|
rs61749705
|
|
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.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.609C>T (p.Pro203=)
|
rs61749710
|
|
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.63-55G>A
|
rs267608414
|
|
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.632C>A (p.Pro211His)
|
rs267608502
|
|
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.653G>A (p.Gly218Asp)
|
rs63485860
|
|
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.663G>A (p.Val221=)
|
rs786205017
|
|
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.677_689del (p.Glu226fs)
|
rs267608386
|
|
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.709C>A (p.Pro237Thr)
|
rs267608513
|
|
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.715C>G (p.Gln239Glu)
|
rs61749737
|
|
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs)
|
rs63749008
|
|
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)
|
rs61749739
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn)
|
rs61754422
|
|
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.746G>T (p.Gly249Val)
|
rs62846063
|
|
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.751del (p.Ala251fs)
|
rs61749744
|
|
NM_001110792.2(MECP2):c.756C>G (p.Thr252=)
|
rs61749746
|
|
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.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
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.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.786delinsTCAGGAAGCTT (p.Pro263fs)
|
rs267608521
|
|
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu)
|
rs61750229
|
|
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.796A>T (p.Lys266Ter)
|
rs63259763
|
|
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.82C>T (p.Gln28Ter)
|
rs61754424
|
|
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter)
|
rs61750238
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa)
|
rs1557134716
|
|
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.855del (p.Ser286fs)
|
rs267608530
|
|
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.870_975del (p.Ala291fs)
|
rs1557136146
|
|
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.886A>G (p.Lys296Glu)
|
rs61750255
|
|
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs)
|
rs1557135499
|
|
NM_001110792.2(MECP2):c.890dup (p.Lys298fs)
|
rs267608531
|
|
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.893A>G (p.Lys298Arg)
|
rs267608533
|
|
NM_001110792.2(MECP2):c.900dup (p.Lys301fs)
|
rs267608535
|
|
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.917G>C (p.Arg306Pro)
|
rs61751366
|
|
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.92dup (p.Leu33fs)
|
rs267608417
|
|
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.939C>T (p.Leu313=)
|
rs61751372
|
|
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.942C>G (p.Pro314=)
|
rs61751438
|
|
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.945C>G (p.Ile315Met)
|
rs61751439
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg)
|
rs267608550
|
|
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.953G>T (p.Arg318Leu)
|
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_004992.3(MECP2):c.(?_-1)_(26_?)del
|
|
|
NM_004992.3(MECP2):c.(?_-226)_(*1_?)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.1276_*113del299ins3
|
|
|
NM_004992.3(MECP2):c.249_250ins7
|
|
|
NM_004992.3(MECP2):c.27-12521_*5072del
|
|
|
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
|
|
|
NM_004992.3(MECP2):c.27-4722_*739delins43
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NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
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NM_004992.3(MECP2):c.27-6026_1190delinsGT
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NM_004992.3(MECP2):c.481_987del507ins8
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NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
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NM_004992.3(MECP2):c.764_765ins8
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NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
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NM_004992.3(MECP2):c.830_831ins23 (p.?)
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NM_004992.3(MECP2):c.943_1140del198ins6
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NM_004992.3:c.(?_-226)_(*1_?)dup
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NM_004992.3:c.(?_184)_(1065_?)del
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NM_004992.3:c.(?_27)_(*1_?)del
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NM_004992.3:c.(?_27)_(*8554_?)del
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NM_004992.3:c.(?_27)_(1018_?)del
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NM_004992.3:c.(?_27)_(1021_?)del
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NM_004992.3:c.(?_27)_(1029_?)del
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NM_004992.3:c.(?_27)_(1170_?)del
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NM_004992.3:c.(?_27)_(1185_?)del
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NM_004992.3:c.(?_27)_(1337_?)del
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NM_004992.3:c.(?_27)_(1397_?)del
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NM_004992.3:c.(?_27)_(378_1461)del
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NM_004992.3:c.(?_27)_(378_?)del
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NM_004992.3:c.343_1182del
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NM_004992.4(MECP2):c.26+2T>A
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rs267608409
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