NC_000023.10:g.(?_48932442)_(48935774_?)del
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NC_000023.10:g.(?_48932462)_(48935755_?)del
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NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)
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rs387907328
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NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter)
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rs781972464
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NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter)
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rs781972464
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NM_001029896.2(WDR45):c.1010_1011del (p.Phe337fs)
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NM_001029896.2(WDR45):c.1029dup (p.Asn344fs)
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rs2065026848
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NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter)
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rs1602537159
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NM_001029896.2(WDR45):c.1037_1038del (p.Glu346fs)
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rs2147814431
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NM_001029896.2(WDR45):c.109_110insACCT (p.Leu37fs)
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NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter)
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rs2065048388
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NM_001029896.2(WDR45):c.130+1G>C
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rs2147817628
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NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)
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rs2065045729
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NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)
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rs886041382
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NM_001029896.2(WDR45):c.1A>G (p.Met1Val)
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rs2065048490
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NM_001029896.2(WDR45):c.200del (p.Gly67fs)
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NM_001029896.2(WDR45):c.209del (p.Ser70fs)
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rs2147817417
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NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter)
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rs1569523537
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NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter)
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rs2147817379
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NM_001029896.2(WDR45):c.226_230del (p.Glu76fs)
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rs2065045334
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NM_001029896.2(WDR45):c.228_229del (p.Glu76fs)
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NM_001029896.2(WDR45):c.235+159C>G
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rs1602540060
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NM_001029896.2(WDR45):c.235+1G>A
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rs2065045269
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NM_001029896.2(WDR45):c.235+2T>G
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rs1602540211
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NM_001029896.2(WDR45):c.235+5G>A
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rs2065045234
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NM_001029896.2(WDR45):c.236-21A>G
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rs2147816654
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NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)
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rs1569523565
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NM_001029896.2(WDR45):c.332_338del (p.Arg111fs)
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rs2147816498
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NM_001029896.2(WDR45):c.342-2A>C
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rs1602539140
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NM_001029896.2(WDR45):c.342-3C>G
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rs2147816332
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NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs)
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rs2065038463
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NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
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rs797046101
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NM_001029896.2(WDR45):c.406_409del (p.Phe136fs)
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NM_001029896.2(WDR45):c.408dup (p.Glu137Ter)
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rs1557084239
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NM_001029896.2(WDR45):c.434dup (p.Leu147fs)
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rs387907331
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NM_001029896.2(WDR45):c.437-2A>C
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rs886041693
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NM_001029896.2(WDR45):c.437-4_437-2delinsT
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rs1602538379
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NM_001029896.2(WDR45):c.457del (p.Ser153fs)
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rs2065034268
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NM_001029896.2(WDR45):c.488del (p.Gly163fs)
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NM_001029896.2(WDR45):c.490_493del (p.His164fs)
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NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)
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rs1557084120
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NM_001029896.2(WDR45):c.510dup (p.Leu171fs)
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rs2065033946
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NM_001029896.2(WDR45):c.516+1G>A
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rs797046102
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NM_001029896.2(WDR45):c.516+1G>T
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rs797046102
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NM_001029896.2(WDR45):c.516+1_516+3del
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rs1557084113
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NM_001029896.2(WDR45):c.516+1del
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NM_001029896.2(WDR45):c.516G>C (p.Val172=)
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rs387907330
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NM_001029896.2(WDR45):c.517-2A>G
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rs1602538148
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NM_001029896.2(WDR45):c.55+2_55+3del
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rs1057519622
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NM_001029896.2(WDR45):c.56-2A>G
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rs1602540595
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NM_001029896.2(WDR45):c.584_585del (p.Ile195fs)
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rs886041381
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NM_001029896.2(WDR45):c.599dup (p.Asn201fs)
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rs1557084066
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NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter)
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rs2065032542
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NM_001029896.2(WDR45):c.604del (p.Gln202fs)
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rs2147815446
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NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp)
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rs878855326
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NM_001029896.2(WDR45):c.618dup (p.Val207fs)
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NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)
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NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter)
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rs387907332
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NM_001029896.2(WDR45):c.64del (p.Cys22fs)
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NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer)
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rs2065032149
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NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)
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NM_001029896.2(WDR45):c.667_668del (p.Gln223fs)
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rs886041994
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NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)
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NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)
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rs387907329
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NM_001029896.2(WDR45):c.725+2T>A
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NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)
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rs1064793294
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NM_001029896.2(WDR45):c.785A>C (p.His262Pro)
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rs2147815135
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NM_001029896.2(WDR45):c.787_790dup (p.Phe264fs)
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NM_001029896.2(WDR45):c.787_800del (p.Ile263fs)
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rs2065030871
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NM_001029896.2(WDR45):c.78_79del (p.Glu26fs)
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rs2147817681
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NM_001029896.2(WDR45):c.797_798del (p.Leu266fs)
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rs2147815120
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NM_001029896.2(WDR45):c.827+1G>A
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rs1557083958
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NM_001029896.2(WDR45):c.827+1G>C
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rs1557083958
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NM_001029896.2(WDR45):c.827+1G>T
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rs1557083958
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NM_001029896.2(WDR45):c.827+2_827+3del
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rs797046103
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NM_001029896.2(WDR45):c.827+2dup
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rs1602537729
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NM_001029896.2(WDR45):c.827+5G>C
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rs1557083956
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NM_001029896.2(WDR45):c.827+5G>T
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NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)
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rs2065029414
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NM_001029896.2(WDR45):c.865_874del (p.Gln289fs)
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NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)
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rs782557596
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NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
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NM_001029896.2(WDR45):c.880del (p.Gln294fs)
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rs2147814875
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NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs)
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rs2147814859
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NM_001029896.2(WDR45):c.905_906del (p.Val302fs)
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NM_001029896.2(WDR45):c.922_928del (p.Cys308fs)
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NM_001029896.2(WDR45):c.938del (p.Gly313fs)
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rs2147814810
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NM_001029896.2(WDR45):c.966dup (p.Val323fs)
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rs797046105
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NM_001029896.2(WDR45):c.973+1G>A
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rs869312661
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NM_001029896.2(WDR45):c.974-1G>A
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rs1557083830
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