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.1030_1382del (p.Ser344fs)
|
rs1557135016
|
|
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs)
|
rs267608559
|
|
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs)
|
rs1557135426
|
|
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs)
|
rs1557135268
|
|
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs)
|
rs1557135338
|
|
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs)
|
rs1557135285
|
|
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs)
|
rs267608567
|
|
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs)
|
rs1557135213
|
|
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
|
rs1557135447
|
|
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs)
|
rs1557135299
|
|
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs)
|
rs1557134378
|
|
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)
|
rs1557134779
|
|
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs)
|
rs267608576
|
|
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs)
|
rs267608577
|
|
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs)
|
rs267608580
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs)
|
rs267608584
|
|
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
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|
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NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
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NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer)
|
rs2065919863
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
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
|
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NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
|
rs267608612
|
|
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)
|
rs267608614
|
|
NM_001110792.2(MECP2):c.1244del (p.Pro415fs)
|
rs781843758
|
|
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.1301_1325delinsAGCGGCCG (p.Gly434fs)
|
rs63749064
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)
|
rs267608637
|
|
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
|
rs267608428
|
|
NM_001110792.2(MECP2):c.162dup (p.His55fs)
|
rs61754430
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.237del (p.Ser80fs)
|
rs61754438
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter)
|
rs267608445
|
|
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.338C>T (p.Pro113Leu)
|
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.353G>A (p.Arg118Gln)
|
rs61754457
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro)
|
rs61748389
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001110792.2(MECP2):c.447del (p.Glu149fs)
|
rs61748393
|
|
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.464_465insT (p.Glu155fs)
|
rs61748398
|
|
NM_001110792.2(MECP2):c.475del (p.Asp159fs)
|
rs62952161
|
|
NM_001110792.2(MECP2):c.487del (p.Asp163fs)
|
rs61748402
|
|
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)
|
rs28934905
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.506dup (p.Thr170fs)
|
rs267608482
|
|
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.516del (p.Arg174fs)
|
rs61748415
|
|
NM_001110792.2(MECP2):c.519del (p.Arg174fs)
|
rs61748418
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.567del (p.Lys189fs)
|
rs61749703
|
|
NM_001110792.2(MECP2):c.590del (p.Gly197fs)
|
rs61749707
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.62+2_62+3del
|
rs786205049
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
|
rs267608503
|
|
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs)
|
rs267608506
|
|
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del)
|
rs1557135847
|
|
NM_001110792.2(MECP2):c.653del (p.Gly218fs)
|
rs61749727
|
|
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.710C>T (p.Pro237Leu)
|
rs61749715
|
|
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.767_1202del (p.Gln256fs)
|
rs1557135670
|
|
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.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.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.870_975del (p.Ala291fs)
|
rs1557136146
|
|
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
|
rs1557135197
|
|
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs)
|
rs1557135499
|
|
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)
|
rs61750259
|
|
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs)
|
rs267608536
|
|
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.919del (p.Ser307fs)
|
rs267608541
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs)
|
rs1557135907
|
|
NM_001110792.2(MECP2):c.934_940del (p.Val312fs)
|
rs267608543
|
|
NM_001110792.2(MECP2):c.934del (p.Val312fs)
|
rs267608544
|
|
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.950_1208del (p.Lys317fs)
|
rs1557135622
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|