NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)
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rs397515417
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0.00001
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NC_000005.10:g.(?_37045443)_(37048675_?)del
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NC_000005.9:g.(?_37045525)_(37048797_?)del
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NC_000005.9:g.(?_37057268)_(37061140_?)del
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NC_000023.10:g.(?_71681834)_(71715138_?)dup
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NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
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NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)
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rs1861180567
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NM_005445.4(SMC3):c.1901G>A (p.Arg634His)
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rs2134740210
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NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro)
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rs1590563617
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NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
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rs886041239
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NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
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NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
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NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe)
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rs764118613
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NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
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rs2075701790
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NM_006306.4(SMC1A):c.1546-2A>C
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NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu)
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rs2146600012
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NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
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NM_006306.4(SMC1A):c.2314-2A>G
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rs1602409271
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NM_006306.4(SMC1A):c.2314-2A>T
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rs1602409271
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NM_006306.4(SMC1A):c.2314-7_2314-3del
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rs2146598341
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NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
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rs2075680329
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NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs)
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rs1556886127
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NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
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rs587784418
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NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)
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rs2146582443
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NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)
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rs2146582443
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NM_006306.4(SMC1A):c.3437+1G>A
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rs2146582412
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NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)
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rs1569351534
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NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)
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rs1556885810
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NM_006306.4(SMC1A):c.3508-2A>G
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rs2146581345
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NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)
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rs1569351341
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NM_006306.4(SMC1A):c.855-1G>A
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NM_018486.3(HDAC8):c.1005+2T>C
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rs2148039062
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NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)
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rs1555949010
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NM_018486.3(HDAC8):c.738-2A>G
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NM_133433.4(NIPBL):c.3575-2A>G
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NM_133433.4(NIPBL):c.3664+1G>A
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NM_133433.4(NIPBL):c.4560+1G>C
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rs2149681631
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NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup)
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rs1748964402
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NM_133433.4(NIPBL):c.5011-1G>C
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rs1561169166
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NM_133433.4(NIPBL):c.5225+2T>G
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NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro)
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rs1554025675
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NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
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NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
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NM_133433.4(NIPBL):c.5575-1G>A
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rs1750049152
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NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn)
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rs1554030233
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NM_133433.4(NIPBL):c.6249+1G>A
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rs2149730953
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NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro)
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rs781297222
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NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
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NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp)
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rs2149742261
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NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
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NM_133433.4(NIPBL):c.7263+1G>A
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NM_133433.4(NIPBL):c.7410+4A>G
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rs1561222738
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NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=)
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rs1754396332
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NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg)
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rs1554035311
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