NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His)
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rs372913827
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0.00002
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NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu)
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rs121434618
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0.00001
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NC_000023.10:g.(?_39916388)_(39937202_?)del
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NC_000023.10:g.(?_39921372)_(39923872_?)del
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NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del
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NC_000023.11:g.(?_40051246)_(40075180_?)del
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NC_000023.11:g.(?_40052089)_(40077949_?)del
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NC_000023.11:g.(?_40057155)_(40077969_?)del
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NC_000023.11:g.(?_40070953)_(40077949_?)dup
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NG_008880.1:g.(5324_84863)_?del
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NM_001123385.2(BCOR):c.1233del (p.Lys412fs)
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NM_001123385.2(BCOR):c.1529dup (p.Val511fs)
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rs2147241441
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NM_001123385.2(BCOR):c.2389_2390del (p.Val797fs)
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rs2147215369
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NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs)
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rs1555918014
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NM_001123385.2(BCOR):c.2514del (p.Lys839fs)
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rs1394942244
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NM_001123385.2(BCOR):c.2613del (p.Phe871fs)
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rs730880013
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NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter)
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rs2147206769
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NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs)
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rs1602147278
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NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter)
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rs121434619
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NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
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NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)
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NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs)
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rs2147176806
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NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)
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NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
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NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)
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NM_001123385.2(BCOR):c.3226del (p.Glu1076fs)
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rs2147172268
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NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs)
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rs1602131405
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NM_001123385.2(BCOR):c.3268del (p.Asp1090fs)
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rs1555915854
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NM_001123385.2(BCOR):c.3286del (p.Glu1096fs)
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rs1602131169
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NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)
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NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs)
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rs1555915785
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NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs)
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rs1555915763
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NM_001123385.2(BCOR):c.3463del (p.Asp1155fs)
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rs1602130230
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NM_001123385.2(BCOR):c.3467del (p.Pro1156fs)
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rs1602130188
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NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter)
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rs1935081157
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NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs)
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NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter)
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rs1935034055
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NM_001123385.2(BCOR):c.3983del (p.Gln1328fs)
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rs1602124517
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NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)
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NM_001123385.2(BCOR):c.4174-1G>T
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rs1569146193
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NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs)
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rs730880034
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NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs)
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rs2147004911
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NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs)
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NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter)
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rs766620661
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NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter)
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rs199676230
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NM_001123385.2(BCOR):c.4551del (p.Glu1518fs)
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rs2146922561
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NM_001123385.2(BCOR):c.4711del (p.His1571fs)
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rs1934541230
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NM_001123385.2(BCOR):c.4742-141_4977-665del
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NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs)
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rs748074364
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NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)
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rs755680047
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NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter)
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NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs)
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rs1935688233
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NM_001123385.2(BCOR):c.821dup (p.Ala275fs)
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NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter)
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NM_001123385.2(BCOR):c.982del (p.Asp328fs)
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rs1935668973
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