NM_001029896.2(WDR45):c.695G>A (p.Arg232His)
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rs781978699
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0.00001
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NM_001029896.2(WDR45):c.1027del (p.Cys343fs)
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rs2065026878
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NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)
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rs797046100
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NM_001029896.2(WDR45):c.130+1G>T
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NM_001029896.2(WDR45):c.130+2T>C
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rs2147817625
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NM_001029896.2(WDR45):c.131-2A>G
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rs1557084491
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NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)
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rs864309661
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NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro)
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rs1602540331
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NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)
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NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)
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rs1602540295
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NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)
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rs2065045650
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NM_001029896.2(WDR45):c.234_235+1delinsC
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NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)
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rs1569523565
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NM_001029896.2(WDR45):c.305_307del (p.Thr102del)
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NM_001029896.2(WDR45):c.341+4A>C
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rs1602539322
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NM_001029896.2(WDR45):c.380_382del (p.Ser127del)
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rs2147816288
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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.405GTTTGA[1] (p.Glu137_Phe138del)
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rs1569523502
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NM_001029896.2(WDR45):c.437-1G>A
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rs1602538372
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NM_001029896.2(WDR45):c.437-2A>T
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NM_001029896.2(WDR45):c.437-3T>G
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rs1602538385
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NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro)
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rs1197831794
|
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NM_001029896.2(WDR45):c.498_499del (p.Cys166fs)
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|
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NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu)
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rs1131691592
|
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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+5G>A
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|
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NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)
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rs1569523562
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NM_001029896.2(WDR45):c.598_599del (p.Leu200fs)
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rs2065032591
|
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NM_001029896.2(WDR45):c.618del (p.Val207fs)
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rs1602538023
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NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)
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|
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NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer)
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rs1569523468
|
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NM_001029896.2(WDR45):c.725+1G>T
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rs2147815304
|
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NM_001029896.2(WDR45):c.726-17_726-6del
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rs2147815209
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NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)
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rs2147815172
|
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NM_001029896.2(WDR45):c.827+1G>T
|
rs1557083958
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NM_001029896.2(WDR45):c.827+2dup
|
rs1602537729
|
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NM_001029896.2(WDR45):c.827+5G>C
|
rs1557083956
|
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NM_001029896.2(WDR45):c.828-2A>C
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rs2147814944
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NM_001029896.2(WDR45):c.828-2A>G
|
|
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NM_001029896.2(WDR45):c.892del (p.Ala298fs)
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|
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NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)
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|
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NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs)
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rs1557083878
|
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NM_001029896.2(WDR45):c.966dup (p.Val323fs)
|
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.973+1_973+3del
|
|
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NM_001136157.2(OTUD5):c.689-839_1060-3983del
|
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