NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
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rs61751449
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NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs)
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rs267608558
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NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs)
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rs1557135426
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NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs)
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rs1557135338
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NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
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rs1557135447
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NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)
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rs1557134779
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NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
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NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
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rs267608327
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NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
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rs267608592
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NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
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rs267608589
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NM_001110792.2(MECP2):c.1200del (p.Pro401fs)
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rs267608606
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NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)
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rs267608610
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NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs)
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rs1557135137
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NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
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rs267608612
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NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)
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rs267608614
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NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs)
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rs63749038
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NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)
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rs267608617
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NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
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rs61754427
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NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
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rs267608424
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NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)
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rs267608637
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NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
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rs267608428
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NM_001110792.2(MECP2):c.237del (p.Ser80fs)
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rs61754438
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NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
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rs267608438
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NM_001110792.2(MECP2):c.331_333del (p.Thr111del)
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rs267608449
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NM_001110792.2(MECP2):c.338C>A (p.Pro113His)
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rs61754453
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NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)
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rs61754455
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NM_001110792.2(MECP2):c.347_359del (p.Trp116fs)
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rs63749010
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NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
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rs28934907
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NM_001110792.2(MECP2):c.381del (p.Ser128fs)
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rs61755761
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NM_001110792.2(MECP2):c.414-3C>G
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rs267608465
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NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
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rs61748390
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NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)
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rs267608475
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NM_001110792.2(MECP2):c.456del (p.Tyr153fs)
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rs267608476
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NM_001110792.2(MECP2):c.487del (p.Asp163fs)
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rs61748402
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NM_001110792.2(MECP2):c.506dup (p.Thr170fs)
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rs267608482
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NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
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rs28934906
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NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer)
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rs267608485
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NM_001110792.2(MECP2):c.519del (p.Arg174fs)
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rs61748418
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NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
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rs193922679
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NM_001110792.2(MECP2):c.63-6C>G
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rs267608411
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NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
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rs267608503
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NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)
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rs61754421
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NM_001110792.2(MECP2):c.653del (p.Gly218fs)
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rs61749727
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
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rs61749715
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NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs)
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rs1557135125
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NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs)
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rs1557136549
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NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
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rs61749751
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NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
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rs61749721
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NM_001110792.2(MECP2):c.828_829del (p.Pro277fs)
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rs267608526
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|
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs)
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rs61750242
|
|
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del)
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rs1557135541
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NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
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rs1557135197
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|
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)
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rs61750259
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NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)
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rs1557136013
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NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
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rs61751362
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NM_001110792.2(MECP2):c.916_920del (p.Arg306fs)
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rs61751364
|
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NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs)
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rs1557135907
|
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NM_001110792.2(MECP2):c.934del (p.Val312fs)
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rs267608544
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NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)
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rs61749723
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NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu)
|
rs1557135788
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NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
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rs61751443
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
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rs267608395
|
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NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
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rs267608659
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NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
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rs61753251
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NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
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rs587783406
|
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NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
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rs398124202
|
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NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
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rs786205005
|
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NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)
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rs267606828
|
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NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
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rs587783641
|
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