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.414-74C>T
|
rs2071569
|
0.01484
|
NM_001110792.2(MECP2):c.413+22C>G
|
rs2075597
|
0.00778
|
NM_001110792.2(MECP2):c.413+28A>G
|
rs185036026
|
0.00301
|
NM_001110792.2(MECP2):c.413+95G>A
|
rs267608460
|
0.00223
|
NM_001110792.2(MECP2):c.414-61C>G
|
rs191076920
|
0.00056
|
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)
|
rs267608336
|
0.00005
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
NM_001110792.2(MECP2):c.413+18C>G
|
rs267608461
|
0.00002
|
NM_001110792.2(MECP2):c.413+24C>A
|
rs267608462
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly)
|
rs61750240
|
0.00001
|
NM_001110792.2(MECP2):c.*796_*822del
|
rs267608375
|
|
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del)
|
rs61751452
|
|
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del)
|
rs61751456
|
|
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs)
|
rs267608376
|
|
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=)
|
rs267608400
|
|
NM_001110792.2(MECP2):c.1065del (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs)
|
rs267608380
|
|
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs)
|
rs267608377
|
|
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del)
|
rs267608384
|
|
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs)
|
rs267608378
|
|
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs)
|
rs267608381
|
|
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs)
|
rs267608385
|
|
NM_001110792.2(MECP2):c.1140C>T (p.His380=)
|
rs61752382
|
|
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del)
|
rs267608371
|
|
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs)
|
rs1557135314
|
|
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs)
|
rs267608340
|
|
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs)
|
rs267608379
|
|
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs)
|
rs267608348
|
|
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs)
|
rs267608389
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del)
|
rs267608350
|
|
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del)
|
rs267608392
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs)
|
rs267608373
|
|
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_1205del (p.Pro401_Pro403del)
|
rs267608401
|
|
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs)
|
rs267608334
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs)
|
rs267608349
|
|
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs)
|
rs267608369
|
|
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del)
|
rs267608335
|
|
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu)
|
rs267608402
|
|
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs)
|
rs267608383
|
|
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)
|
rs267608333
|
|
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs)
|
rs267608403
|
|
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs)
|
rs63749018
|
|
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs)
|
rs267608338
|
|
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
|
|
|
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
|
|
|
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs)
|
rs267608351
|
|
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del)
|
rs63749027
|
|
NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe)
|
rs61753966
|
|
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs)
|
rs267608374
|
|
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])
|
rs267608404
|
|
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)
|
rs104894864
|
|
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs)
|
rs267608393
|
|
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg)
|
rs267608337
|
|
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)
|
rs267608399
|
|
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs)
|
rs267608405
|
|
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)
|
rs1603310755
|
|
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter)
|
rs267608398
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.413+1G>A
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+1G>T
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+2T>G
|
rs267608458
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.414-14G>A
|
rs267608467
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.414-241C>T
|
rs3027931
|
|
NM_001110792.2(MECP2):c.414-2A>C
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-2A>G
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-2A>T
|
rs267608464
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.414-3_419del
|
rs267608466
|
|
NM_001110792.2(MECP2):c.414-74C>G
|
rs2071569
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys)
|
rs28934905
|
|
NM_001110792.2(MECP2):c.504C>T (p.Asp168=)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.63-2A>G
|
rs267608412
|
|
NM_001110792.2(MECP2):c.63-55G>A
|
rs267608414
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.63-8C>G
|
rs267608410
|
|
NM_001110792.2(MECP2):c.63-9A>G
|
rs267608413
|
|
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp)
|
rs63485860
|
|
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs)
|
rs267608386
|
|
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val)
|
rs62846063
|
|
NM_001110792.2(MECP2):c.786C>A (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_004992.4(MECP2):c.26+2T>A
|
rs267608409
|
|