NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)
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rs1555471394
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0.00001
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GRCh37/hg19 16p13.3(chr16:3776170-3807064)x1
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GRCh37/hg19 16p13.3(chr16:3788869-3849208)x1
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NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
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rs1302427305
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NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
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rs587783464
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NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)
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rs1555484797
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NM_004380.3(CREBBP):c.1669del (p.Ala557fs)
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rs398124139
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NM_004380.3(CREBBP):c.2071C>T (p.Gln691Ter)
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rs1555483689
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NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)
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rs2141496166
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NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)
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rs1057520652
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NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)
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NM_004380.3(CREBBP):c.2659C>T (p.Gln887Ter)
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rs1057520589
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NM_004380.3(CREBBP):c.2685del (p.Gln897fs)
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rs794727124
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NM_004380.3(CREBBP):c.2841dup (p.Gln948fs)
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rs886041468
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NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
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NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter)
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rs398124144
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NM_004380.3(CREBBP):c.3341del (p.Pro1114fs)
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rs1057520072
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NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)
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NM_004380.3(CREBBP):c.3609+1G>A
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rs886041879
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NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)
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rs2052611239
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NM_004380.3(CREBBP):c.3707_3719delinsCTGTGATCTTGCTGACAGGTATCA (p.Phe1236fs)
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rs1596839727
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NM_004380.3(CREBBP):c.3779+1G>A
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rs587783483
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NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
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rs267606752
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NM_004380.3(CREBBP):c.3982+1G>A
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rs398124145
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NM_004380.3(CREBBP):c.3993del (p.Thr1332fs)
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rs794727391
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NM_004380.3(CREBBP):c.4021C>T (p.Arg1341Ter)
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NM_004380.3(CREBBP):c.4044_4057del (p.Gln1349fs)
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rs1555473890
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NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
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rs587783490
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NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg)
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rs2052127299
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NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)
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rs1555473491
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NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
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rs886041286
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NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)
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rs1555473105
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NM_004380.3(CREBBP):c.4606_4607del (p.Glu1536fs)
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rs2151327865
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NM_004380.3(CREBBP):c.4621del (p.Glu1541fs)
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rs2151327825
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NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
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NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
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rs1555471931
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NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
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rs587783502
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NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
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rs2051906390
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NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)
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rs1567265131
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NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)
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rs1064796457
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NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
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rs2051858361
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NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
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rs988251457
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NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys)
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rs372253007
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NM_004380.3(CREBBP):c.5513G>A (p.Cys1838Tyr)
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NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp)
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rs398124148
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NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)
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rs1131691326
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NM_004380.3(CREBBP):c.5600G>T (p.Arg1867Leu)
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rs1131691326
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NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)
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rs886039491
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NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
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rs1567263168
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NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
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rs797045037
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NM_004380.3(CREBBP):c.5667dup (p.Pro1890fs)
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rs1555471336
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NM_004380.3(CREBBP):c.6010C>T (p.Arg2004Ter)
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rs886039331
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NM_004380.3(CREBBP):c.6033dup (p.Val2012fs)
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rs2051832768
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NM_004380.3(CREBBP):c.6133C>T (p.Gln2045Ter)
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NM_004380.3(CREBBP):c.6193_6199dup (p.Leu2067fs)
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rs1131691988
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NM_004380.3(CREBBP):c.6220del (p.Thr2073_Leu2074insTer)
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rs1555471086
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NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)
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rs886041518
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NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
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rs1057518789
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NM_004380.3(CREBBP):c.886dup (p.Gln296fs)
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rs1567331357
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NM_004380.3(CREBBP):c.910del (p.Val304fs)
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rs398124150
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