NM_139058.3(ARX):c.856G>A (p.Gly286Ser)
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rs28935479
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0.00001
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ARX, ARG2085HIS
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NC_000023.11:g.25013829_25017090del
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NG_008281.1:g.(?_4983)_(8028_10643)del
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NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)
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rs869312662
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NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)
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rs104894741
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NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)
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rs104894743
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NM_139058.3(ARX):c.1096del (p.Asp366fs)
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rs797045289
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NM_139058.3(ARX):c.1105G>T (p.Glu369Ter)
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rs104894746
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NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
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rs587783182
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NM_139058.3(ARX):c.1111del (p.Arg371fs)
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NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)
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rs104894740
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NM_139058.3(ARX):c.1120-2A>G
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rs2147320644
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NM_139058.3(ARX):c.1120-82_1469dup
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NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)
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rs2147320638
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NM_139058.3(ARX):c.1129del (p.Gln377fs)
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rs1601946658
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NM_139058.3(ARX):c.1141G>A (p.Ala381Thr)
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rs587783096
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NM_139058.3(ARX):c.1141del (p.Ala381fs)
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rs1556049694
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NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
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NM_139058.3(ARX):c.1151G>T (p.Arg384Leu)
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rs1064797362
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NM_139058.3(ARX):c.1151_1152del (p.Arg384fs)
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rs398124506
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NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
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rs797045290
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NM_139058.3(ARX):c.1180_1187del (p.His394fs)
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NM_139058.3(ARX):c.1187dup (p.Gly397fs)
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rs1328291159
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NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
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rs2048682798
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NM_139058.3(ARX):c.1256_1260del (p.Phe419fs)
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rs2048682677
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NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
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NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)
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rs2048682045
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NM_139058.3(ARX):c.1337dup (p.Pro447fs)
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rs797045291
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NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)
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rs1601946502
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NM_139058.3(ARX):c.1372del (p.Ala458fs)
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rs587783187
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NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)
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rs1569394026
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NM_139058.3(ARX):c.1406_1415del (p.Ala469fs)
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rs2147320332
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NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
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rs587783189
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NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)
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rs1601946492
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NM_139058.3(ARX):c.1430del (p.Ile477fs)
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NM_139058.3(ARX):c.1443dup (p.Gly482fs)
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rs2147320305
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NM_139058.3(ARX):c.1446_1448+1dup
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rs1601946481
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NM_139058.3(ARX):c.1449-816_*460del
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NM_139058.3(ARX):c.1449-82_1469dup
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rs1556046904
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NM_139058.3(ARX):c.1449-8_1453del
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rs2147318823
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NM_139058.3(ARX):c.1465del (p.Ala489fs)
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rs587783191
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NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)
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rs797045292
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NM_139058.3(ARX):c.1471dup (p.Leu491fs)
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rs797045292
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NM_139058.3(ARX):c.1472del (p.Leu491fs)
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rs2147318790
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NM_139058.3(ARX):c.1497del (p.Leu500fs)
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NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
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NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)
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rs1556046720
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NM_139058.3(ARX):c.1544del (p.Gly515fs)
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rs587783192
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NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)
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rs1601945655
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NM_139058.3(ARX):c.1559del (p.Pro520fs)
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NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)
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rs1601945626
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NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs)
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rs1057517705
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NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)
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rs387906715
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NM_139058.3(ARX):c.1612A>G (p.Lys538Glu)
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rs1064794843
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NM_139058.3(ARX):c.172del (p.Ala58fs)
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rs587783193
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NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
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NM_139058.3(ARX):c.232G>T (p.Glu78Ter)
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rs267606666
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NM_139058.3(ARX):c.26dup (p.Cys10fs)
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rs2147325489
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NM_139058.3(ARX):c.2T>G (p.Met1Arg)
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rs2147325502
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NM_139058.3(ARX):c.30C>A (p.Cys10Ter)
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rs794726959
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NM_139058.3(ARX):c.34G>T (p.Glu12Ter)
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rs587783200
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NM_139058.3(ARX):c.467G>A (p.Trp156Ter)
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rs2048711878
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NM_139058.3(ARX):c.486_489del (p.Ser162fs)
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NM_139058.3(ARX):c.502_503dup (p.Ser168fs)
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rs2147324110
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NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)
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rs1601948603
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NM_139058.3(ARX):c.52dup (p.Ser18fs)
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rs1601949558
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NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
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rs797045303
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NM_139058.3(ARX):c.590dup (p.Val198fs)
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NM_139058.3(ARX):c.614_642del (p.Leu205fs)
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rs886043728
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NM_139058.3(ARX):c.617del (p.Gly206fs)
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rs587783202
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NM_139058.3(ARX):c.642_645del (p.Pro215fs)
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rs2147323943
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NM_139058.3(ARX):c.790del (p.Arg264fs)
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rs886043552
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NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)
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rs398122854
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NM_139058.3(ARX):c.922G>T (p.Glu308Ter)
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rs1556055108
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NM_139058.3(ARX):c.947del (p.Gly316fs)
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rs2147323625
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NM_139058.3(ARX):c.956C>A (p.Ser319Ter)
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rs2048708701
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NM_139058.3(ARX):c.980_983del (p.Lys327fs)
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rs398124520
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NM_139058.3(ARX):c.98T>C (p.Leu33Pro)
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rs28936077
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NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
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rs2147323593
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NM_139058.3(ARX):c.995G>A (p.Arg332His)
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rs111033612
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NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
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rs111033612
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NM_139058.3(ARX):c.998C>A (p.Thr333Asn)
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rs104894745
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NM_139058.3(ARX):c.998C>G (p.Thr333Ser)
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rs104894745
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