NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
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.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
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.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
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.1410C>T (p.Arg470=)
|
rs781825661
|
0.00004
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp)
|
rs782320257
|
0.00003
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala)
|
rs868943420
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
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.587C>G (p.Thr196Ser)
|
rs782419414
|
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.1018C>G (p.Leu340Val)
|
rs267608556
|
0.00001
|
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=)
|
rs1557136001
|
0.00001
|
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=)
|
rs782221170
|
0.00001
|
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu)
|
rs971722789
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala)
|
rs782598922
|
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.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp)
|
rs782467549
|
0.00001
|
NM_001110792.2(MECP2):c.633C>G (p.Pro211=)
|
rs782619288
|
0.00001
|
NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu)
|
rs782716294
|
0.00001
|
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly)
|
rs782735472
|
0.00001
|
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567
|
0.00001
|
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala)
|
rs143989769
|
0.00001
|
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr)
|
rs1327387670
|
0.00001
|
GRCh37/hg19 Xq28(chrX:153303159-153383470)x3
|
|
|
GRCh37/hg19 Xq28(chrX:153347338-153408903)x2
|
|
|
NM_001110792.2(MECP2):c.*9G>T
|
rs144008995
|
|
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val)
|
rs2065934195
|
|
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile)
|
|
|
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg)
|
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
|
|
|
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.109C>T (p.Pro37Ser)
|
rs1275570991
|
|
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr)
|
rs61752373
|
|
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)
|
rs782171742
|
|
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.1134CCA[2] (p.His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln)
|
rs2148660984
|
|
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.1174_1191del (p.Val392_Pro397del)
|
|
|
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del)
|
rs587783094
|
|
NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs)
|
rs2148659886
|
|
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser)
|
rs1171658384
|
|
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr)
|
rs1557135722
|
|
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_1203delinsTC (p.Pro400_Pro401delinsLeu)
|
|
|
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=)
|
rs797044732
|
|
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr)
|
rs781794820
|
|
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp)
|
rs61753009
|
|
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)
|
rs782746707
|
|
NM_001110792.2(MECP2):c.1218G>C (p.Glu406Asp)
|
|
|
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly)
|
rs1603307813
|
|
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>G (p.Pro415Ala)
|
rs782495086
|
|
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
|
|
|
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.126G>A (p.Lys42=)
|
rs398124187
|
|
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp)
|
rs1603307532
|
|
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.1315G>T (p.Asp439Tyr)
|
|
|
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly)
|
rs2148658933
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala)
|
rs2065904640
|
|
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)
|
|
|
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala)
|
rs1557134990
|
|
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.1450GAG[3] (p.Glu485_Pro486insGlu)
|
|
|
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.244T>C (p.Ser82Pro)
|
rs1557137884
|
|
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val)
|
|
|
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
|
|
|
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser)
|
rs1557137845
|
|
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys)
|
rs1332969540
|
|
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
|
|
|
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp)
|
rs1557137821
|
|
NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln)
|
rs797044707
|
|
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp)
|
rs2148666395
|
|
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp)
|
rs1064796513
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.414-10G>T
|
rs1557137196
|
|
NM_001110792.2(MECP2):c.414-11T>A
|
|
|
NM_001110792.2(MECP2):c.414-4del
|
rs1557137191
|
|
NM_001110792.2(MECP2):c.423A>G (p.Gly141=)
|
rs1557137159
|
|
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu)
|
rs61748397
|
|
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup)
|
rs1569549906
|
|
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)
|
|
|
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.563C>A (p.Pro188His)
|
rs61749701
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
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.599G>A (p.Arg200Gln)
|
|
|
NM_001110792.2(MECP2):c.63-3C>G
|
|
|
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr)
|
rs2148663508
|
|
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp)
|
rs2065950854
|
|
NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln)
|
rs377324117
|
|
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser)
|
rs786205894
|
|
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)
|
rs1209806388
|
|
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala)
|
|
|
NM_001110792.2(MECP2):c.732C>T (p.Gly244=)
|
rs2065947928
|
|
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp)
|
rs1557136591
|
|
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.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.818C>T (p.Pro273Leu)
|
|
|
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly)
|
rs782576004
|
|
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val)
|
rs1569548411
|
|
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.88C>T (p.Leu30Phe)
|
rs2065991510
|
|
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys)
|
rs1327387670
|
|
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile)
|
|
|
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe)
|
rs1557136251
|
|
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser)
|
rs1557136171
|
|
NM_001110792.2(MECP2):c.972C>T (p.Val324=)
|
rs398124188
|
|
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala)
|
rs61751448
|
|