NM_001110792.2(MECP2):c.413+266T>C
|
rs2075596
|
0.84600
|
NM_001110792.2(MECP2):c.414-109A>G
|
rs3850326
|
0.04029
|
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.62+5140A>G
|
rs191208644
|
0.01268
|
NM_001110792.2(MECP2):c.413+242C>T
|
rs138803341
|
0.00779
|
NM_001110792.2(MECP2):c.413+22C>G
|
rs2075597
|
0.00778
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
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.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
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.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
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.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)
|
rs61750252
|
0.00050
|
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.*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.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.1362C>T (p.Thr454=)
|
rs61751363
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
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.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
|
rs61753971
|
0.00011
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)
|
rs267608339
|
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.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.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.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
NM_001110792.2(MECP2):c.642C>T (p.Ala214=)
|
rs782254448
|
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.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
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.1353G>A (p.Ala451=)
|
rs146632223
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001110792.2(MECP2):c.456G>A (p.Ala152=)
|
rs782082759
|
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.1177C>T (p.Pro393Ser)
|
rs61752981
|
0.00004
|
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His)
|
rs111302745
|
0.00004
|
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu)
|
rs587783107
|
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.750G>A (p.Gly250=)
|
rs369813305
|
0.00004
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
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.*1C>G
|
rs781782964
|
0.00003
|
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=)
|
rs782741920
|
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.1374C>T (p.Ala458=)
|
rs782496297
|
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.261G>A (p.Pro87=)
|
rs61754442
|
0.00003
|
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp)
|
rs782320257
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)
|
rs782202329
|
0.00002
|
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr)
|
rs587783106
|
0.00002
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=)
|
rs782230851
|
0.00002
|
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)
|
rs587777421
|
0.00002
|
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val)
|
rs1557137890
|
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.414T>C (p.Asn138=)
|
rs782035249
|
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.604C>T (p.Arg202Cys)
|
rs587783137
|
0.00002
|
NM_001110792.2(MECP2):c.62+20C>G
|
rs781969166
|
0.00002
|
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg)
|
rs267608502
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
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.*16A>G
|
rs1057520854
|
0.00001
|
NM_001110792.2(MECP2):c.*4T>C
|
rs782579028
|
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.1098C>T (p.Arg366=)
|
rs782228941
|
0.00001
|
NM_001110792.2(MECP2):c.1137C>T (p.His379=)
|
rs1336019373
|
0.00001
|
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=)
|
rs782751264
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr)
|
rs1171658384
|
0.00001
|
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile)
|
rs782420809
|
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.1368C>T (p.Ala456=)
|
rs1204809030
|
0.00001
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys)
|
rs782601477
|
0.00001
|
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu)
|
rs1333935838
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.552A>G (p.Pro184=)
|
rs1169814545
|
0.00001
|
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys)
|
rs782789719
|
0.00001
|
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp)
|
rs782467549
|
0.00001
|
NM_001110792.2(MECP2):c.62+5300C>G
|
rs782519280
|
0.00001
|
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567
|
0.00001
|
NM_001110792.2(MECP2):c.763A>G (p.Thr255Ala)
|
rs782145652
|
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.860T>C (p.Val287Ala)
|
rs143989769
|
0.00001
|
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln)
|
rs61751366
|
0.00001
|
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr)
|
rs1327387670
|
0.00001
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=)
|
rs374670136
|
|
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg)
|
|
|
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del)
|
rs1557135547
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs)
|
rs1557135901
|
|
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
|
|
|
NM_001110792.2(MECP2):c.1065G>C (p.Gly355=)
|
rs1057522816
|
|
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=)
|
rs1043854626
|
|
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del)
|
|
|
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn)
|
rs1557136008
|
|
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg)
|
rs2148661393
|
|
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser)
|
rs1275570991
|
|
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser)
|
rs61752373
|
|
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)
|
rs782171742
|
|
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs)
|
rs1557135516
|
|
NM_001110792.2(MECP2):c.1122del (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del)
|
rs1305887312
|
|
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr)
|
rs1057520135
|
|
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr)
|
rs2065928374
|
|
NM_001110792.2(MECP2):c.1134C>T (p.His378=)
|
rs1557135898
|
|
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln)
|
rs2148660984
|
|
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs)
|
rs1557135851
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser)
|
rs587783106
|
|
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.1173dup (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del)
|
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del)
|
rs587783094
|
|
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del)
|
rs782767712
|
|
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer)
|
rs1557135631
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs)
|
rs1603307876
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser)
|
rs1171658384
|
|
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs)
|
rs267608373
|
|
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)
|
rs1557135251
|
|
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
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_1302del (p.Pro400fs)
|
rs1557135140
|
|
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_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer)
|
rs2065919863
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del)
|
rs782783878
|
|
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs)
|
rs267608601
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.1199del (p.Pro400fs)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs)
|
rs2148660011
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala)
|
rs781794820
|
|
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp)
|
rs61753009
|
|
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=)
|
rs781898011
|
|
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)
|
rs782746707
|
|
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
|
|
|
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)
|
rs587783107
|
|
NM_001110792.2(MECP2):c.1244del (p.Pro415fs)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1245del (p.Glu416fs)
|
rs1064796837
|
|
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
|
rs61753965
|
|
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)
|
rs2065910235
|
|
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del)
|
rs2065909462
|
|
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly)
|
rs782598922
|
|
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)
|
rs797045692
|
|
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)
|
rs61753968
|
|
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)
|
rs1210814372
|
|
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn)
|
rs2148659072
|
|
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs)
|
rs587783095
|
|
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly)
|
rs2148658933
|
|
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.1354dup (p.Val452fs)
|
rs1603307453
|
|
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala)
|
rs2065904640
|
|
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)
|
|
|
NM_001110792.2(MECP2):c.138del (p.Asp46fs)
|
rs1557137983
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg)
|
rs1557134964
|
|
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile)
|
rs1270065515
|
|
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)
|
rs1057520310
|
|
NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs)
|
|
|
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)
|
rs75498268
|
|
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)
|
rs1557134910
|
|
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)
|
rs587777421
|
|
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs)
|
rs1603310863
|
|
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)
|
rs61754433
|
|
NM_001110792.2(MECP2):c.192C>G (p.His64Gln)
|
rs781819534
|
|
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
|
|
|
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp)
|
rs1557137821
|
|
NM_001110792.2(MECP2):c.311del (p.Gly104fs)
|
rs267608446
|
|
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)
|
rs1603310755
|
|
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)
|
rs28935168
|
|
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.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.361A>G (p.Lys121Glu)
|
rs886041732
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
|
|
|
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala)
|
rs1557137672
|
|
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys)
|
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp)
|
rs1064796513
|
|
NM_001110792.2(MECP2):c.413+2dup
|
rs1057518521
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.414-11T>A
|
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.414-241C>T
|
rs3027931
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs)
|
rs1557150846
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
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.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.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup)
|
rs1064795312
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu)
|
rs61748397
|
|
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)
|
|
|
NM_001110792.2(MECP2):c.48C>T (p.Gly16=)
|
rs786205045
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
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.516_517del (p.Gly173fs)
|
rs267608486
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro)
|
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr)
|
rs782700352
|
|
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser)
|
rs186663314
|
|
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala)
|
rs1362774583
|
|
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu)
|
|
|
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser)
|
rs2148663753
|
|
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly)
|
|
|
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp)
|
rs587783133
|
|
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser)
|
rs587783135
|
|
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter)
|
rs587783136
|
|
NM_001110792.2(MECP2):c.62+20C>A
|
rs781969166
|
|
NM_001110792.2(MECP2):c.62+2T>A
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.62+2T>G
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.62+304dup
|
rs11368467
|
|
NM_001110792.2(MECP2):c.62+5488dup
|
rs372915987
|
|
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr)
|
rs2148663508
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter)
|
rs61749729
|
|
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp)
|
rs2065950854
|
|
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val)
|
rs782473355
|
|
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val)
|
rs782357529
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.726del (p.Gly244fs)
|
rs1064793576
|
|
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala)
|
|
|
NM_001110792.2(MECP2):c.731G>A (p.Gly244Asp)
|
rs61748422
|
|
NM_001110792.2(MECP2):c.732C>T (p.Gly244=)
|
rs2065947928
|
|
NM_001110792.2(MECP2):c.741G>A (p.Glu247=)
|
rs2148663015
|
|
NM_001110792.2(MECP2):c.753C>A (p.Ala251=)
|
rs1057520963
|
|
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys)
|
rs2065991940
|
|
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.789del (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
|
|
|
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
|
|
|
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
|
|
|
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly)
|
rs782576004
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs)
|
rs587783091
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.844del (p.Arg282fs)
|
rs62931162
|
|
NM_001110792.2(MECP2):c.851del (p.Pro284fs)
|
rs1057518568
|
|
NM_001110792.2(MECP2):c.855del (p.Ser286fs)
|
rs267608530
|
|
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val)
|
rs781971438
|
|
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp)
|
rs1186486711
|
|
NM_001110792.2(MECP2):c.906G>A (p.Glu302=)
|
rs587781032
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys)
|
rs1327387670
|
|
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile)
|
|
|
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.943A>G (p.Ile315Val)
|
rs1057522038
|
|
NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
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NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
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rs28935468
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NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
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rs61751443
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NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu)
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rs1131691480
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NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
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rs61751444
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NM_001110792.2(MECP2):c.972C>T (p.Val324=)
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rs398124188
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NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
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NM_004992.4(MECP2):c.20G>A (p.Gly7Glu)
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rs1057517905
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