NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NC_000023.11:g.154031853_154031854ins77278664_77280319
|
|
|
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs)
|
rs267608558
|
|
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs)
|
rs1557135426
|
|
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg)
|
rs2148661474
|
|
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs)
|
rs1557135338
|
|
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs)
|
rs1557135929
|
|
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)
|
rs1064792899
|
|
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
|
rs1557135447
|
|
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs)
|
rs1557135423
|
|
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)
|
rs1557134779
|
|
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs)
|
rs2065917262
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
|
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs)
|
rs1557135346
|
|
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
|
|
|
NM_001110792.2(MECP2):c.1200del (p.Pro401fs)
|
rs267608606
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)
|
rs267608610
|
|
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs)
|
rs1557135137
|
|
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
|
rs267608612
|
|
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)
|
rs267608614
|
|
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)
|
rs267608615
|
|
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs)
|
rs63749038
|
|
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)
|
rs267608617
|
|
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
|
rs61754427
|
|
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs)
|
rs1557134923
|
|
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs)
|
rs63749065
|
|
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)
|
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)
|
rs267608637
|
|
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg)
|
rs267608337
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
|
rs267608428
|
|
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)
|
rs2065988707
|
|
NM_001110792.2(MECP2):c.237del (p.Ser80fs)
|
rs61754438
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)
|
rs2148666767
|
|
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs)
|
rs63749009
|
|
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr)
|
rs61754448
|
|
NM_001110792.2(MECP2):c.331_333del (p.Thr111del)
|
rs267608449
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>A (p.Pro113His)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)
|
rs61754455
|
|
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs)
|
rs63749010
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro)
|
rs61754458
|
|
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)
|
rs1057518718
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
|
|
|
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)
|
rs61755762
|
|
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile)
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)
|
rs61748383
|
|
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.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.456del (p.Tyr153fs)
|
rs267608476
|
|
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs)
|
rs786205042
|
|
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)
|
rs1557137042
|
|
NM_001110792.2(MECP2):c.487del (p.Asp163fs)
|
rs61748402
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
|
rs1603309620
|
|
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.504C>A (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)
|
rs61748410
|
|
NM_001110792.2(MECP2):c.506dup (p.Thr170fs)
|
rs267608482
|
|
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)
|
rs267608484
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer)
|
rs267608485
|
|
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)
|
rs61748416
|
|
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)
|
rs61748417
|
|
NM_001110792.2(MECP2):c.519del (p.Arg174fs)
|
rs61748418
|
|
NM_001110792.2(MECP2):c.531del (p.Ser178fs)
|
rs267608489
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001110792.2(MECP2):c.605G>A (p.Arg202His)
|
rs1557136818
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
|
rs267608503
|
|
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.653del (p.Gly218fs)
|
rs61749727
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)
|
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs)
|
rs1557135125
|
|
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs)
|
rs1569548428
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs)
|
rs1557136549
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs)
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.818del (p.Pro273fs)
|
|
|
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs)
|
rs267608526
|
|
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs)
|
rs61750242
|
|
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del)
|
rs1557135541
|
|
NM_001110792.2(MECP2):c.876del (p.Ala293fs)
|
rs1557136332
|
|
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
|
|
|
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
|
rs1557135197
|
|
NM_001110792.2(MECP2):c.890del (p.Lys297fs)
|
rs267608531
|
|
NM_001110792.2(MECP2):c.900dup (p.Lys301fs)
|
rs267608535
|
|
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)
|
rs61750259
|
|
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)
|
rs1557136013
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs)
|
rs61751364
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs)
|
rs1557135907
|
|
NM_001110792.2(MECP2):c.934del (p.Val312fs)
|
rs267608544
|
|
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)
|
rs1557136251
|
|
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu)
|
rs1557135788
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)
|
|
|
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)
|
rs61751441
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|