NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
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.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.639G>A (p.Ala213=)
|
rs267608504
|
0.00010
|
NM_001110792.2(MECP2):c.627G>A (p.Thr209=)
|
rs61749716
|
0.00009
|
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)
|
rs61749746
|
0.00009
|
NM_001110792.2(MECP2):c.861G>A (p.Val287=)
|
rs782202718
|
0.00009
|
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu)
|
rs61748387
|
0.00008
|
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu)
|
rs267608491
|
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.1066C>T (p.Arg356Trp)
|
rs61752361
|
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.1058G>A (p.Ser353Asn)
|
rs782708218
|
0.00005
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala)
|
rs1557135593
|
0.00005
|
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)
|
rs62915962
|
0.00005
|
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)
|
rs267608336
|
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.780C>G (p.Ile260Met)
|
rs782086243
|
0.00005
|
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His)
|
rs111302745
|
0.00004
|
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe)
|
rs782125862
|
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.915C>G (p.Ile305Met)
|
rs587783140
|
0.00004
|
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr)
|
rs781968415
|
0.00003
|
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=)
|
rs782385010
|
0.00003
|
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=)
|
rs370226935
|
0.00003
|
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=)
|
rs782741920
|
0.00003
|
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)
|
rs267608619
|
0.00003
|
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=)
|
rs782496297
|
0.00003
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
NM_001110792.2(MECP2):c.417C>G (p.Pro139=)
|
rs782752095
|
0.00003
|
NM_001110792.2(MECP2):c.549A>G (p.Lys183=)
|
rs781872600
|
0.00003
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)
|
rs587783138
|
0.00003
|
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala)
|
rs868943420
|
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.967A>G (p.Thr323Ala)
|
rs782208190
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val)
|
rs1158736298
|
0.00002
|
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro)
|
rs782420258
|
0.00002
|
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=)
|
rs782230851
|
0.00002
|
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn)
|
rs782217947
|
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.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001110792.2(MECP2):c.609C>G (p.Pro203=)
|
rs61749710
|
0.00002
|
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg)
|
rs267608502
|
0.00002
|
NM_001110792.2(MECP2):c.954C>G (p.Arg318=)
|
rs782383967
|
0.00002
|
NM_001110792.2(MECP2):c.969G>A (p.Thr323=)
|
rs782335201
|
0.00002
|
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg)
|
rs781944561
|
0.00001
|
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=)
|
rs2065932294
|
0.00001
|
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=)
|
rs1557136001
|
0.00001
|
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=)
|
rs782242577
|
0.00001
|
NM_001110792.2(MECP2):c.1137C>T (p.His379=)
|
rs1336019373
|
0.00001
|
NM_001110792.2(MECP2):c.114C>G (p.Leu38=)
|
rs1557138002
|
0.00001
|
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=)
|
rs1557135820
|
0.00001
|
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=)
|
rs782751264
|
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.1186C>T (p.Pro396Ser)
|
rs373116070
|
0.00001
|
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr)
|
rs1171658384
|
0.00001
|
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=)
|
rs1569548322
|
0.00001
|
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=)
|
rs61753009
|
0.00001
|
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr)
|
rs1557135428
|
0.00001
|
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile)
|
rs782420809
|
0.00001
|
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser)
|
rs781786825
|
0.00001
|
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro)
|
rs782638259
|
0.00001
|
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala)
|
rs782598922
|
0.00001
|
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=)
|
rs61753967
|
0.00001
|
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp)
|
rs1557135148
|
0.00001
|
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=)
|
rs782638563
|
0.00001
|
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=)
|
rs782798565
|
0.00001
|
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=)
|
rs1204809030
|
0.00001
|
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val)
|
rs782608788
|
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.1476C>T (p.Pro492=)
|
rs782677867
|
0.00001
|
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=)
|
rs76895094
|
0.00001
|
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu)
|
rs782487090
|
0.00001
|
NM_001110792.2(MECP2):c.186C>T (p.Ala62=)
|
rs2065988537
|
0.00001
|
NM_001110792.2(MECP2):c.252G>A (p.Pro84=)
|
rs781942427
|
0.00001
|
NM_001110792.2(MECP2):c.279C>G (p.Pro93=)
|
rs1557137825
|
0.00001
|
NM_001110792.2(MECP2):c.315C>T (p.Pro105=)
|
rs267608447
|
0.00001
|
NM_001110792.2(MECP2):c.413+24C>A
|
rs267608462
|
0.00001
|
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala)
|
rs1282284627
|
0.00001
|
NM_001110792.2(MECP2):c.486G>C (p.Leu162=)
|
rs1060504124
|
0.00001
|
NM_001110792.2(MECP2):c.552A>G (p.Pro184=)
|
rs1169814545
|
0.00001
|
NM_001110792.2(MECP2):c.579T>C (p.Ala193=)
|
rs1557136875
|
0.00001
|
NM_001110792.2(MECP2):c.582A>G (p.Pro194=)
|
rs1275293022
|
0.00001
|
NM_001110792.2(MECP2):c.597C>A (p.Gly199=)
|
rs200074866
|
0.00001
|
NM_001110792.2(MECP2):c.63-8C>T
|
rs267608410
|
0.00001
|
NM_001110792.2(MECP2):c.633C>G (p.Pro211=)
|
rs782619288
|
0.00001
|
NM_001110792.2(MECP2):c.672C>A (p.Val224=)
|
rs1557136728
|
0.00001
|
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567
|
0.00001
|
NM_001110792.2(MECP2):c.753C>T (p.Ala251=)
|
rs1057520963
|
0.00001
|
NM_001110792.2(MECP2):c.759A>G (p.Thr253=)
|
rs1416619132
|
0.00001
|
NM_001110792.2(MECP2):c.825C>T (p.Ala275=)
|
rs782444398
|
0.00001
|
NM_001110792.2(MECP2):c.840G>A (p.Arg280=)
|
rs2065942686
|
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.984C>G (p.Val328=)
|
rs61751447
|
0.00001
|
NM_001110792.2(MECP2):c.990A>G (p.Glu330=)
|
rs141454727
|
0.00001
|
NM_001110792.2(MECP2):c.1008G>C (p.Leu336=)
|
|
|
NM_001110792.2(MECP2):c.1014C>A (p.Ser338=)
|
|
|
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=)
|
rs374670136
|
|
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=)
|
rs61751442
|
|
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=)
|
rs61751451
|
|
NM_001110792.2(MECP2):c.1044G>A (p.Leu348=)
|
|
|
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=)
|
rs267608400
|
|
NM_001110792.2(MECP2):c.1060C>A (p.Pro354Thr)
|
|
|
NM_001110792.2(MECP2):c.1065G>A (p.Gly355=)
|
|
|
NM_001110792.2(MECP2):c.1068G>A (p.Arg356=)
|
|
|
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=)
|
rs1043854626
|
|
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=)
|
rs2065930750
|
|
NM_001110792.2(MECP2):c.1095G>T (p.Gly365=)
|
|
|
NM_001110792.2(MECP2):c.1110C>T (p.Ala370=)
|
|
|
NM_001110792.2(MECP2):c.1113C>T (p.Ser371=)
|
|
|
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr)
|
rs2148661261
|
|
NM_001110792.2(MECP2):c.1118C>A (p.Pro373His)
|
|
|
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu)
|
rs782736700
|
|
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=)
|
|
|
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=)
|
rs782803951
|
|
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)
|
rs782171742
|
|
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu)
|
rs587783105
|
|
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=)
|
|
|
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=)
|
rs1557135934
|
|
NM_001110792.2(MECP2):c.1122C>T (p.Pro374=)
|
|
|
NM_001110792.2(MECP2):c.1125G>A (p.Lys375=)
|
|
|
NM_001110792.2(MECP2):c.1128G>A (p.Lys376=)
|
|
|
NM_001110792.2(MECP2):c.1134C>T (p.His378=)
|
rs1557135898
|
|
NM_001110792.2(MECP2):c.1140C>T (p.His380=)
|
rs61752382
|
|
NM_001110792.2(MECP2):c.1143T>C (p.His381=)
|
rs1557135877
|
|
NM_001110792.2(MECP2):c.1145A>G (p.His382Arg)
|
|
|
NM_001110792.2(MECP2):c.1152C>T (p.His384=)
|
|
|
NM_001110792.2(MECP2):c.1160C>T (p.Ser387Phe)
|
|
|
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.1170C>A (p.Ala390=)
|
|
|
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=)
|
rs61752980
|
|
NM_001110792.2(MECP2):c.1179A>G (p.Pro393=)
|
|
|
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del)
|
rs1291465065
|
|
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=)
|
rs782385010
|
|
NM_001110792.2(MECP2):c.1188A>G (p.Pro396=)
|
|
|
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr)
|
rs782279709
|
|
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser)
|
|
|
NM_001110792.2(MECP2):c.1190C>T (p.Pro397Leu)
|
|
|
NM_001110792.2(MECP2):c.1191C>A (p.Pro397=)
|
|
|
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.1192C>T (p.Leu398=)
|
|
|
NM_001110792.2(MECP2):c.1193T>C (p.Leu398Pro)
|
|
|
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del)
|
rs1569548334
|
|
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del)
|
rs2148660433
|
|
NM_001110792.2(MECP2):c.1197C>G (p.Pro399=)
|
|
|
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1197_1208del (p.Pro400_Pro403del)
|
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
NM_001110792.2(MECP2):c.1200A>G (p.Pro400=)
|
|
|
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=)
|
rs1469109249
|
|
NM_001110792.2(MECP2):c.1203T>C (p.Pro401=)
|
|
|
NM_001110792.2(MECP2):c.1204C>T (p.Pro402Ser)
|
|
|
NM_001110792.2(MECP2):c.1206A>T (p.Pro402=)
|
|
|
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala)
|
rs781794820
|
|
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=)
|
rs781898011
|
|
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=)
|
rs781898011
|
|
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del)
|
rs1557135368
|
|
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=)
|
rs1603307819
|
|
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=)
|
rs2148659708
|
|
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His)
|
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.1248_1249delinsAT (p.Pro417Ser)
|
|
|
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=)
|
|
|
NM_001110792.2(MECP2):c.1266C>T (p.Ser422=)
|
|
|
NM_001110792.2(MECP2):c.1278A>G (p.Lys426=)
|
|
|
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=)
|
rs2148659210
|
|
NM_001110792.2(MECP2):c.129G>A (p.Val43=)
|
rs1194365979
|
|
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=)
|
rs61753970
|
|
NM_001110792.2(MECP2):c.1308G>A (p.Leu436=)
|
|
|
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=)
|
rs2148659080
|
|
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=)
|
rs1603307482
|
|
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=)
|
rs2148658929
|
|
NM_001110792.2(MECP2):c.1350C>G (p.Pro450=)
|
|
|
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=)
|
rs61751363
|
|
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])
|
rs267608404
|
|
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=)
|
rs3027927
|
|
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=)
|
|
|
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.1401G>A (p.Glu467=)
|
|
|
NM_001110792.2(MECP2):c.1412A>C (p.Lys471Thr)
|
|
|
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=)
|
rs2065902668
|
|
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe)
|
rs2065902468
|
|
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.1467C>T (p.Ser489=)
|
|
|
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=)
|
rs1214690328
|
|
NM_001110792.2(MECP2):c.1479G>A (p.Val493=)
|
|
|
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
|
|
|
NM_001110792.2(MECP2):c.177G>A (p.Gln59=)
|
|
|
NM_001110792.2(MECP2):c.192C>G (p.His64Gln)
|
rs781819534
|
|
NM_001110792.2(MECP2):c.231A>G (p.Ser77=)
|
|
|
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp)
|
rs1557137874
|
|
NM_001110792.2(MECP2):c.255T>C (p.Ala85=)
|
|
|
NM_001110792.2(MECP2):c.264A>G (p.Glu88=)
|
|
|
NM_001110792.2(MECP2):c.267T>C (p.Ala89=)
|
|
|
NM_001110792.2(MECP2):c.273C>G (p.Ala91=)
|
|
|
NM_001110792.2(MECP2):c.282A>G (p.Lys94=)
|
rs2148666701
|
|
NM_001110792.2(MECP2):c.294C>T (p.Ser98=)
|
|
|
NM_001110792.2(MECP2):c.336G>A (p.Leu112=)
|
|
|
NM_001110792.2(MECP2):c.336G>T (p.Leu112=)
|
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.351A>G (p.Thr117=)
|
|
|
NM_001110792.2(MECP2):c.369G>A (p.Arg123=)
|
|
|
NM_001110792.2(MECP2):c.372A>G (p.Lys124=)
|
rs2065982926
|
|
NM_001110792.2(MECP2):c.396T>C (p.Tyr132=)
|
|
|
NM_001110792.2(MECP2):c.413+12C>T
|
|
|
NM_001110792.2(MECP2):c.413+13A>C
|
rs2148666303
|
|
NM_001110792.2(MECP2):c.413+17C>T
|
|
|
NM_001110792.2(MECP2):c.413+20A>G
|
|
|
NM_001110792.2(MECP2):c.414-10G>A
|
rs1557137196
|
|
NM_001110792.2(MECP2):c.414-10G>T
|
rs1557137196
|
|
NM_001110792.2(MECP2):c.414-14G>A
|
rs267608467
|
|
NM_001110792.2(MECP2):c.414-16C>T
|
|
|
NM_001110792.2(MECP2):c.414-18_414-17insA
|
|
|
NM_001110792.2(MECP2):c.414-20C>T
|
|
|
NM_001110792.2(MECP2):c.414-4A>G
|
|
|
NM_001110792.2(MECP2):c.414-4del
|
rs1557137191
|
|
NM_001110792.2(MECP2):c.414-5C>G
|
|
|
NM_001110792.2(MECP2):c.414-6C>A
|
rs782482746
|
|
NM_001110792.2(MECP2):c.414-7C>G
|
|
|
NM_001110792.2(MECP2):c.414-7C>T
|
|
|
NM_001110792.2(MECP2):c.414-8C>A
|
|
|
NM_001110792.2(MECP2):c.414-8C>T
|
|
|
NM_001110792.2(MECP2):c.414-9T>C
|
|
|
NM_001110792.2(MECP2):c.420G>A (p.Gln140=)
|
rs2148664374
|
|
NM_001110792.2(MECP2):c.429C>A (p.Ala143=)
|
|
|
NM_001110792.2(MECP2):c.429C>T (p.Ala143=)
|
|
|
NM_001110792.2(MECP2):c.435C>G (p.Arg145=)
|
|
|
NM_001110792.2(MECP2):c.435C>T (p.Arg145=)
|
rs782178841
|
|
NM_001110792.2(MECP2):c.438T>C (p.Ser146=)
|
|
|
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.45A>C (p.Gly15=)
|
rs1369488698
|
|
NM_001110792.2(MECP2):c.465A>G (p.Glu155=)
|
rs2065960775
|
|
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup)
|
rs1569549906
|
|
NM_001110792.2(MECP2):c.480A>G (p.Thr160=)
|
rs2148664166
|
|
NM_001110792.2(MECP2):c.483C>A (p.Ser161=)
|
rs782231195
|
|
NM_001110792.2(MECP2):c.483C>T (p.Ser161=)
|
|
|
NM_001110792.2(MECP2):c.510G>T (p.Thr170=)
|
|
|
NM_001110792.2(MECP2):c.525G>A (p.Gly175=)
|
|
|
NM_001110792.2(MECP2):c.525G>C (p.Gly175=)
|
|
|
NM_001110792.2(MECP2):c.531C>A (p.Pro177=)
|
|
|
NM_001110792.2(MECP2):c.531C>G (p.Pro177=)
|
rs376821032
|
|
NM_001110792.2(MECP2):c.534C>T (p.Ser178=)
|
|
|
NM_001110792.2(MECP2):c.543G>A (p.Glu181=)
|
|
|
NM_001110792.2(MECP2):c.561G>A (p.Lys187=)
|
|
|
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala)
|
|
|
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser)
|
rs186663314
|
|
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)
|
rs61749701
|
|
NM_001110792.2(MECP2):c.567A>G (p.Lys189=)
|
|
|
NM_001110792.2(MECP2):c.591C>A (p.Gly197=)
|
|
|
NM_001110792.2(MECP2):c.600G>A (p.Arg200=)
|
rs2148663671
|
|
NM_001110792.2(MECP2):c.606C>T (p.Arg202=)
|
rs782556129
|
|
NM_001110792.2(MECP2):c.609C>T (p.Pro203=)
|
rs61749710
|
|
NM_001110792.2(MECP2):c.615G>A (p.Gly205=)
|
|
|
NM_001110792.2(MECP2):c.62+10A>T
|
rs1557150839
|
|
NM_001110792.2(MECP2):c.62+11C>T
|
rs1557150838
|
|
NM_001110792.2(MECP2):c.62+15C>T
|
rs782109379
|
|
NM_001110792.2(MECP2):c.62+16G>A
|
|
|
NM_001110792.2(MECP2):c.62+18G>A
|
|
|
NM_001110792.2(MECP2):c.62+5429C>G
|
|
|
NM_001110792.2(MECP2):c.62+5429C>T
|
rs1557149879
|
|
NM_001110792.2(MECP2):c.62+5430C>G
|
|
|
NM_001110792.2(MECP2):c.62+5434dup
|
|
|
NM_001110792.2(MECP2):c.62+5435_62+5436insA
|
|
|
NM_001110792.2(MECP2):c.62+5440T>G
|
|
|
NM_001110792.2(MECP2):c.62+8G>A
|
|
|
NM_001110792.2(MECP2):c.621C>A (p.Gly207=)
|
|
|
NM_001110792.2(MECP2):c.626C>G (p.Thr209Arg)
|
|
|
NM_001110792.2(MECP2):c.627G>C (p.Thr209=)
|
rs61749716
|
|
NM_001110792.2(MECP2):c.63-14G>A
|
|
|
NM_001110792.2(MECP2):c.63-16T>C
|
|
|
NM_001110792.2(MECP2):c.63-17C>A
|
|
|
NM_001110792.2(MECP2):c.63-17C>G
|
|
|
NM_001110792.2(MECP2):c.63-17C>T
|
|
|
NM_001110792.2(MECP2):c.63-20A>G
|
|
|
NM_001110792.2(MECP2):c.63-20A>T
|
|
|
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
|
|
|
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu)
|
rs267608502
|
|
NM_001110792.2(MECP2):c.633C>T (p.Pro211=)
|
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
NM_001110792.2(MECP2):c.642C>A (p.Ala214=)
|
|
|
NM_001110792.2(MECP2):c.648A>C (p.Ser216=)
|
|
|
NM_001110792.2(MECP2):c.648A>G (p.Ser216=)
|
|
|
NM_001110792.2(MECP2):c.654T>C (p.Gly218=)
|
|
|
NM_001110792.2(MECP2):c.669G>A (p.Arg223=)
|
|
|
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser)
|
rs61749731
|
|
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe)
|
rs1569548445
|
|
NM_001110792.2(MECP2):c.672C>T (p.Val224=)
|
rs1557136728
|
|
NM_001110792.2(MECP2):c.673C>T (p.Leu225=)
|
|
|
NM_001110792.2(MECP2):c.675G>C (p.Leu225=)
|
|
|
NM_001110792.2(MECP2):c.696C>G (p.Leu232=)
|
|
|
NM_001110792.2(MECP2):c.717A>C (p.Gln239His)
|
|
|
NM_001110792.2(MECP2):c.717A>G (p.Gln239=)
|
|
|
NM_001110792.2(MECP2):c.720T>A (p.Thr240=)
|
|
|
NM_001110792.2(MECP2):c.723G>A (p.Ser241=)
|
rs782461567
|
|
NM_001110792.2(MECP2):c.729G>A (p.Gly243=)
|
|
|
NM_001110792.2(MECP2):c.741G>A (p.Glu247=)
|
rs2148663015
|
|
NM_001110792.2(MECP2):c.744G>A (p.Gly248=)
|
|
|
NM_001110792.2(MECP2):c.744G>C (p.Gly248=)
|
|
|
NM_001110792.2(MECP2):c.753C>A (p.Ala251=)
|
rs1057520963
|
|
NM_001110792.2(MECP2):c.759A>C (p.Thr253=)
|
|
|
NM_001110792.2(MECP2):c.75A>T (p.Ser25=)
|
|
|
NM_001110792.2(MECP2):c.765C>A (p.Thr255=)
|
rs1557136570
|
|
NM_001110792.2(MECP2):c.765C>G (p.Thr255=)
|
|
|
NM_001110792.2(MECP2):c.765C>T (p.Thr255=)
|
|
|
NM_001110792.2(MECP2):c.777G>C (p.Val259=)
|
|
|
NM_001110792.2(MECP2):c.783A>G (p.Lys261=)
|
|
|
NM_001110792.2(MECP2):c.786C>G (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.789C>A (p.Pro263=)
|
|
|
NM_001110792.2(MECP2):c.795G>A (p.Arg265=)
|
|
|
NM_001110792.2(MECP2):c.801A>C (p.Arg267=)
|
|
|
NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly)
|
|
|
NM_001110792.2(MECP2):c.813C>A (p.Ala271=)
|
rs1042870
|
|
NM_001110792.2(MECP2):c.831C>T (p.Pro277=)
|
|
|
NM_001110792.2(MECP2):c.837A>G (p.Lys279=)
|
|
|
NM_001110792.2(MECP2):c.838C>A (p.Arg280=)
|
|
|
NM_001110792.2(MECP2):c.849G>A (p.Lys283=)
|
|
|
NM_001110792.2(MECP2):c.852G>C (p.Pro284=)
|
rs587783746
|
|
NM_001110792.2(MECP2):c.852G>T (p.Pro284=)
|
|
|
NM_001110792.2(MECP2):c.855G>C (p.Gly285=)
|
rs61750245
|
|
NM_001110792.2(MECP2):c.858T>C (p.Ser286=)
|
|
|
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val)
|
rs781971438
|
|
NM_001110792.2(MECP2):c.873T>C (p.Ala291=)
|
rs1603308618
|
|
NM_001110792.2(MECP2):c.879C>G (p.Ala293=)
|
|
|
NM_001110792.2(MECP2):c.87C>T (p.Asp29=)
|
rs1557138037
|
|
NM_001110792.2(MECP2):c.896C>T (p.Ala299Val)
|
|
|
NM_001110792.2(MECP2):c.897C>G (p.Ala299=)
|
|
|
NM_001110792.2(MECP2):c.916C>G (p.Arg306Gly)
|
|
|
NM_001110792.2(MECP2):c.924G>A (p.Val308=)
|
rs1603308444
|
|
NM_001110792.2(MECP2):c.939C>T (p.Leu313=)
|
rs61751372
|
|
NM_001110792.2(MECP2):c.942C>G (p.Pro314=)
|
rs61751438
|
|
NM_001110792.2(MECP2):c.942C>T (p.Pro314=)
|
rs61751438
|
|
NM_001110792.2(MECP2):c.94G>A (p.Gly32Ser)
|
|
|
NM_001110792.2(MECP2):c.960C>T (p.Thr320=)
|
|
|
NM_001110792.2(MECP2):c.969G>C (p.Thr323=)
|
|
|
NM_001110792.2(MECP2):c.96C>A (p.Gly32=)
|
rs1353764286
|
|
NM_001110792.2(MECP2):c.972C>T (p.Val324=)
|
rs398124188
|
|
NM_001110792.2(MECP2):c.984C>T (p.Val328=)
|
rs61751447
|
|
NM_001110792.2(MECP2):c.99C>T (p.Leu33=)
|
|
|
NM_004992.4(MECP2):c.12G>A (p.Gly4=)
|
|
|
NM_004992.4(MECP2):c.12G>C (p.Gly4=)
|
rs2148763145
|
|