GRCh37/hg19 Xq24(chrX:118714474-118718137)
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GRCh37/hg19 Xq28(chrX:153174571-153609996)
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NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
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rs122445108
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NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)
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rs1569535642
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NM_000489.6(ATRX):c.477del (p.Lys159fs)
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rs1603240572
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NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)
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rs2080114203
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NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)
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rs1057518730
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NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)
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rs1569335265
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NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)
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rs1057518728
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NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)
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rs2080115999
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NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
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rs1557041672
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NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)
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rs606231196
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NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
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rs267608329
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NM_001110792.2(MECP2):c.842del (p.Gly281fs)
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rs61750241
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NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
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rs61751444
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NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
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rs1569314475
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NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
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NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
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rs1602253296
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NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
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rs1057518707
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NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
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rs1555954284
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NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
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rs1057519430
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NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
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NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
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rs1453153749
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NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
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NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
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rs794727270
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NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
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rs1602386709
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NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
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rs1569215382
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NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
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NM_003491.4(NAA10):c.472-2A>C
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rs2065158556
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NM_003491.4(NAA10):c.494_495del (p.Lys165fs)
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rs1569546255
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NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
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rs1934751829
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NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
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rs80338758
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NM_005120.3(MED12):c.6408+1G>A
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rs2092347488
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NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
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rs1380635081
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NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
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rs1930398120
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NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
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rs1930463806
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NM_015107.3(PHF8):c.377del (p.Leu126fs)
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rs1057518729
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NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
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rs886039764
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NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
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NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
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