NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
NM_001110792.2(MECP2):c.414-61C>G
|
rs191076920
|
0.00056
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu)
|
rs61748387
|
0.00008
|
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)
|
rs61752361
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.*8500C>G
|
rs267608391
|
0.00005
|
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001110792.2(MECP2):c.*767G>T
|
rs267608354
|
0.00004
|
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser)
|
rs61752981
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
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.1138C>T (p.His380Tyr)
|
rs781968415
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
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.307C>T (p.Arg103Trp)
|
rs782320257
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
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.1483G>A (p.Glu495Lys)
|
rs587777421
|
0.00002
|
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val)
|
rs1557137890
|
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.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys)
|
rs1326849768
|
0.00002
|
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val)
|
rs267608556
|
0.00001
|
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del)
|
rs2065928263
|
0.00001
|
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr)
|
rs1346803557
|
0.00001
|
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu)
|
rs1557137994
|
0.00001
|
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)
|
rs62707562
|
0.00001
|
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu)
|
rs1557135085
|
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.236G>T (p.Gly79Val)
|
rs150900180
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001110792.2(MECP2):c.290G>A (p.Arg97His)
|
rs782226571
|
0.00001
|
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys)
|
rs782601477
|
0.00001
|
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val)
|
rs1557137721
|
0.00001
|
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg)
|
rs1392399136
|
0.00001
|
NM_001110792.2(MECP2):c.413+24C>A
|
rs267608462
|
0.00001
|
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala)
|
rs1557137072
|
0.00001
|
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu)
|
rs782468872
|
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.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+5380C>T
|
rs267608324
|
0.00001
|
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly)
|
rs782735472
|
0.00001
|
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala)
|
rs1209806388
|
0.00001
|
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser)
|
rs782493538
|
0.00001
|
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala)
|
rs1557138051
|
0.00001
|
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val)
|
rs1181961523
|
0.00001
|
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys)
|
rs1557136290
|
0.00001
|
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val)
|
rs1557136286
|
0.00001
|
NC_000023.10:g.(?_153295726)_(153298028_?)dup
|
|
|
NC_000023.10:g.(?_153295818)_(153298028_?)dup
|
|
|
NC_000023.10:g.(?_153296122)_(153316446_?)dup
|
|
|
NC_000023.10:g.(?_153297634)_(153298028_?)dup
|
|
|
NC_000023.10:g.(?_153357622)_(153363122_?)dup
|
|
|
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.*4084GT[1]
|
rs267608367
|
|
NM_001110792.2(MECP2):c.*875dup
|
rs267608364
|
|
NM_001110792.2(MECP2):c.*92C>G
|
rs62621672
|
|
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val)
|
rs2065934195
|
|
NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg)
|
rs267608557
|
|
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn)
|
|
|
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly)
|
rs2148661618
|
|
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn)
|
rs896762572
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg)
|
rs267608560
|
|
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg)
|
rs1569548372
|
|
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del)
|
rs1603307609
|
|
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.1072A>G (p.Ser358Gly)
|
|
|
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg)
|
rs61752365
|
|
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln)
|
rs2148661453
|
|
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa)
|
rs1557134784
|
|
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal)
|
rs1557135603
|
|
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp)
|
|
|
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del)
|
rs267608562
|
|
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del)
|
rs267608384
|
|
NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu)
|
|
|
NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg)
|
|
|
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.1100G>A (p.Ser367Asn)
|
|
|
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg)
|
rs267608563
|
|
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser)
|
rs147017239
|
|
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)
|
|
|
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr)
|
rs61752373
|
|
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser)
|
rs61752373
|
|
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del)
|
rs786205032
|
|
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val)
|
rs1603310890
|
|
NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe)
|
|
|
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)
|
|
|
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp)
|
rs2065928374
|
|
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa)
|
rs1557134819
|
|
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del)
|
|
|
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.1134CCA[4] (p.His384dup)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp)
|
rs781968415
|
|
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln)
|
|
|
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del)
|
rs267608371
|
|
NM_001110792.2(MECP2):c.1143_1145del (p.His384del)
|
rs2148661055
|
|
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln)
|
rs2065927241
|
|
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)
|
rs2148661028
|
|
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro)
|
rs1557135080
|
|
NM_001110792.2(MECP2):c.1152C>G (p.His384Gln)
|
|
|
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del)
|
rs1557135279
|
|
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del)
|
rs1557135441
|
|
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg)
|
rs61752976
|
|
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del)
|
rs2065924353
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn)
|
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del)
|
rs2148660709
|
|
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del)
|
|
|
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del)
|
rs587783094
|
|
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del)
|
rs2148659904
|
|
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro)
|
rs1060499622
|
|
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del)
|
rs782767712
|
|
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg)
|
rs267608575
|
|
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr)
|
rs782279709
|
|
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del)
|
rs786205033
|
|
NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg)
|
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del)
|
rs2148660412
|
|
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del)
|
rs1557135259
|
|
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_1228del (p.Leu398_Asp410delinsHis)
|
rs63749028
|
|
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser)
|
rs1171658384
|
|
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del)
|
rs1557134858
|
|
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln)
|
rs267608594
|
|
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del)
|
rs267608401
|
|
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)
|
rs1557134946
|
|
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr)
|
rs61753000
|
|
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del)
|
rs782783878
|
|
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del)
|
rs63749034
|
|
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.1200A>C (p.Pro400=)
|
rs797044732
|
|
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del)
|
rs267608604
|
|
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del)
|
rs1557135539
|
|
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del)
|
rs2148660070
|
|
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del)
|
rs267608605
|
|
NM_001110792.2(MECP2):c.1202C>G (p.Pro401Arg)
|
|
|
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr)
|
rs781794820
|
|
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu)
|
rs267608402
|
|
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)
|
rs782746707
|
|
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly)
|
rs1603307813
|
|
NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg)
|
|
|
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del)
|
|
|
NM_001110792.2(MECP2):c.1243C>A (p.Pro415Thr)
|
|
|
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His)
|
rs587783107
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys)
|
|
|
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)
|
rs2065910235
|
|
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn)
|
rs267608616
|
|
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr)
|
rs2065909517
|
|
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs)
|
rs786205036
|
|
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.1279GAG[1] (p.Glu428del)
|
rs781918838
|
|
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)
|
rs61753968
|
|
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del)
|
rs2065906988
|
|
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr)
|
rs2065906320
|
|
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)
|
|
|
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)
|
rs1569548273
|
|
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup)
|
rs2065905269
|
|
NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn)
|
|
|
NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)
|
|
|
NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val)
|
|
|
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr)
|
|
|
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His)
|
rs2065903736
|
|
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)
|
|
|
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr)
|
rs782747061
|
|
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)
|
|
|
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del)
|
rs267608632
|
|
NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)
|
|
|
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs)
|
rs786205023
|
|
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln)
|
|
|
NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)
|
|
|
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)
|
rs267608328
|
|
NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)
|
|
|
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)
|
rs587777421
|
|
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
|
|
|
NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs)
|
|
|
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)
|
rs267608640
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.189C>G (p.His63Gln)
|
rs267608432
|
|
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)
|
rs1557137884
|
|
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys)
|
rs2065987230
|
|
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly)
|
rs1557137874
|
|
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
|
|
|
NM_001110792.2(MECP2):c.282A>G (p.Lys94=)
|
rs2148666701
|
|
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp)
|
rs1557137821
|
|
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys)
|
rs61754445
|
|
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr)
|
rs2148770895
|
|
NM_001110792.2(MECP2):c.304G>C (p.Asp102His)
|
|
|
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln)
|
rs782177397
|
|
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
|
|
|
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs)
|
rs786205040
|
|
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu)
|
rs2148666605
|
|
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.331A>C (p.Thr111Pro)
|
rs2065984609
|
|
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>G (p.Pro113Arg)
|
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.343G>A (p.Gly115Ser)
|
rs2065984147
|
|
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.352C>G (p.Arg118Gly)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg)
|
rs2148666479
|
|
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe)
|
rs1557137721
|
|
NM_001110792.2(MECP2):c.359T>A (p.Leu120His)
|
rs61754458
|
|
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly)
|
rs61754459
|
|
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala)
|
rs61755760
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg)
|
|
|
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
|
|
|
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp)
|
rs267608454
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
NM_001110792.2(MECP2):c.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.413+2T>G
|
rs267608458
|
|
NM_001110792.2(MECP2):c.413+30G>A
|
rs786205014
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
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.414-11T>A
|
|
|
NM_001110792.2(MECP2):c.414-14G>A
|
rs267608467
|
|
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu)
|
rs267608387
|
|
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.424A>G (p.Lys142Glu)
|
|
|
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro)
|
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
NM_001110792.2(MECP2):c.42A>C (p.Gly14=)
|
|
|
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly)
|
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>T (p.Ser146Phe)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)
|
rs61748391
|
|
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg)
|
rs2148770843
|
|
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup)
|
rs1064795312
|
|
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys)
|
rs61748395
|
|
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys)
|
rs1233476760
|
|
NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)
|
|
|
NM_001110792.2(MECP2):c.465A>G (p.Glu155=)
|
rs2065960775
|
|
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg)
|
rs786205016
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs)
|
rs786205043
|
|
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>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.505T>A (p.Phe169Ile)
|
rs61748410
|
|
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.515C>A (p.Thr172Asn)
|
|
|
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.529C>T (p.Pro177Ser)
|
rs2148663974
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr)
|
rs61748426
|
|
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)
|
rs61748426
|
|
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
|
|
|
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu)
|
rs61749701
|
|
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly)
|
rs1557150848
|
|
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala)
|
rs1362774583
|
|
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
|
|
|
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys)
|
|
|
NM_001110792.2(MECP2):c.62+18G>A
|
|
|
NM_001110792.2(MECP2):c.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.62+3G>C
|
rs2148770726
|
|
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup)
|
rs782003860
|
|
NM_001110792.2(MECP2):c.63-55G>A
|
rs267608414
|
|
NM_001110792.2(MECP2):c.63-8C>G
|
rs267608410
|
|
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>G (p.Lys212Glu)
|
|
|
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.659A>C (p.Gln220Pro)
|
|
|
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg)
|
rs1603309169
|
|
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.671T>A (p.Val224Asp)
|
rs2065950854
|
|
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu)
|
rs267608509
|
|
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser)
|
rs786205894
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)
|
rs878853313
|
|
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)
|
rs61749737
|
|
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)
|
rs1209806388
|
|
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp)
|
rs587783139
|
|
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn)
|
rs61754422
|
|
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val)
|
rs138211345
|
|
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala)
|
rs2065992065
|
|
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val)
|
rs62846063
|
|
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp)
|
|
|
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg)
|
|
|
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.788C>G (p.Pro263Arg)
|
|
|
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
|
|
|
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val)
|
|
|
NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly)
|
|
|
NM_001110792.2(MECP2):c.814G>A (p.Asp272Asn)
|
|
|
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
|
|
|
NM_001110792.2(MECP2):c.822G>C (p.Gln274His)
|
|
|
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly)
|
rs782576004
|
|
NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln)
|
|
|
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg)
|
rs61750243
|
|
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly)
|
|
|
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del)
|
|
|
NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr)
|
|
|
NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser)
|
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del)
|
rs1569548405
|
|
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly)
|
rs2148662326
|
|
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu)
|
rs61750255
|
|
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe)
|
rs2065991510
|
|
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn)
|
|
|
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg)
|
rs267608533
|
|
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp)
|
|
|
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly)
|
rs2148662194
|
|
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala)
|
rs61751360
|
|
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr)
|
rs2065909561
|
|
NM_001110792.2(MECP2):c.907_930del (p.Ser303_Glu310del)
|
|
|
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu)
|
rs61754425
|
|
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys)
|
rs1327387670
|
|
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro)
|
rs2148667246
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu)
|
|
|
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del)
|
rs2065937019
|
|
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del)
|
rs267608545
|
|
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)
|
rs1557136251
|
|
NM_001110792.2(MECP2):c.93G>C (p.Gln31His)
|
rs2148667234
|
|
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>T (p.Pro314Leu)
|
rs61749723
|
|
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.949A>G (p.Lys317Glu)
|
rs267608551
|
|
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)
|
rs61751441
|
|
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)
|
|
|
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.991G>A (p.Val331Met)
|
rs1569548388
|
|
NM_004992.3(MECP2):c.(?_1)_26+?dup
|
|
|
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
|
|
|
NM_004992.3(MECP2):c.1-?dup
|
|
|
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
|
|
|
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
|
|
|
NM_004992.3:c.(?_-226)_(*1_?)dup
|
|
|
NM_004992.4(MECP2):c.26+2T>A
|
rs267608409
|
|