NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
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.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00005
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val)
|
rs267608556
|
0.00001
|
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)
|
rs61753978
|
0.00001
|
NM_001110792.2(MECP2):c.62+5380C>T
|
rs267608324
|
0.00001
|
NM_001110792.2(MECP2):c.*122del
|
rs267608342
|
|
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.1051T>C (p.Cys351Arg)
|
rs267608560
|
|
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly)
|
rs61752361
|
|
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal)
|
rs1557135603
|
|
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del)
|
rs267608562
|
|
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del)
|
rs1557135746
|
|
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg)
|
rs267608563
|
|
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del)
|
rs786205032
|
|
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)
|
rs61752381
|
|
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.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg)
|
rs267608575
|
|
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del)
|
rs786205033
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
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.1196_1216del (p.Pro399_Glu406delinsGln)
|
rs267608594
|
|
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del)
|
rs63749034
|
|
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_1244del (p.Pro401_Pro415del)
|
rs267608605
|
|
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn)
|
rs267608616
|
|
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del)
|
rs267608632
|
|
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.1A>G (p.Met1Val)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys)
|
rs61754445
|
|
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.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[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.352C>G (p.Arg118Gly)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu)
|
rs61754457
|
|
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.394T>G (p.Tyr132Asp)
|
rs267608454
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
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.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.428C>A (p.Ala143Asp)
|
rs267608470
|
|
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.449T>C (p.Leu150Ser)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys)
|
rs61748395
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile)
|
rs61748406
|
|
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.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.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.63-8C>G
|
rs267608410
|
|
NM_001110792.2(MECP2):c.63-9A>G
|
rs267608413
|
|
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln)
|
rs61754421
|
|
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.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala)
|
rs61751360
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del)
|
rs267608545
|
|
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.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.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala)
|
rs61751448
|
|
NM_004992.3(MECP2):c.(?_-226)_-99+?del
|
|
|
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.?)
|
|
|