GRCh37/hg19 16p13.3(chr16:3784414-3821324)
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GRCh37/hg19 16p13.3(chr16:3794894-3795355)
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GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
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NC_000016.10:g.(?_3727698)_(3793646_?)del
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NC_000016.10:g.(?_3727698)_(3810799_?)del
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NC_000016.10:g.(?_3757268)_(3757396_?)del
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NC_000016.10:g.(?_3791961)_(3792114_?)del
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NC_000016.10:g.(?_3810583)_(3879936_?)del
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NC_000016.10:g.(?_3879812)_(3879936_?)del
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NC_000016.9:g.(?_3781438)_(3788947_?)del
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NC_000016.9:g.(?_3786017)_(3860800_?)del
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NC_000016.9:g.(?_3799608)_(3821007_?)dup
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NC_000016.9:g.(?_3817701)_(3817930_?)dup
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NC_000016.9:g.(?_3817701)_(3860800_?)del
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NC_000016.9:g.(?_3823732)_(3831327_?)del
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NC_000016.9:g.(?_3827594)_(3832947_?)del
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NC_000016.9:g.(?_3841962)_(3843647_?)del
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NC_000016.9:g.(?_3900278)_(3901030_?)del
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NC_000016.9:g.(?_3900278)_(3929917_?)del
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NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
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NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
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rs1596948052
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NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)
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rs1567318022
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NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
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rs587783460
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NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
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NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
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rs121434625
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NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
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rs1384496494
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NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
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rs1596947743
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NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
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rs1596947732
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NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
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rs587783461
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NM_004380.3(CREBBP):c.1216+2T>A
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rs1596947522
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NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
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rs1596944340
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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.1257G>A (p.Trp419Ter)
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rs587783463
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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.1280_1281del (p.Cys427fs)
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rs1567316655
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NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
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NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)
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rs2053306001
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NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs)
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rs2053305017
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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.1483C>T (p.Gln495Ter)
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rs1596920745
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NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
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NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
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rs1596920501
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NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)
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rs1567309482
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NM_004380.3(CREBBP):c.1573+1G>A
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rs1596920360
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NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
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rs587783465
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NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
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NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)
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rs398124138
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NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
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rs1596917200
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NM_004380.3(CREBBP):c.1663del (p.Leu555fs)
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rs2053266530
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NM_004380.3(CREBBP):c.1676+2_1676+5del
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rs2141247044
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NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
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rs1597054837
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NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
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rs587783467
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NM_004380.3(CREBBP):c.1824-1G>A
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rs1596910004
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NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
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rs1596909915
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NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
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NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
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rs1596909791
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NM_004380.3(CREBBP):c.1911del (p.Asp639fs)
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rs2141237372
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NM_004380.3(CREBBP):c.1917dup (p.Met640fs)
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rs1567306142
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NM_004380.3(CREBBP):c.1941+1G>A
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rs1555483834
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NM_004380.3(CREBBP):c.1941+1G>T
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rs1555483834
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NM_004380.3(CREBBP):c.1941+2T>C
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rs1596909656
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NM_004380.3(CREBBP):c.1941+5G>A
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rs2053202354
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NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)
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rs2053190428
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NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer)
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rs1596908213
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NM_004380.3(CREBBP):c.201_202del (p.His67fs)
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NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
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rs587783469
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NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
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rs587783470
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NM_004380.3(CREBBP):c.2159-1G>T
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rs1596897799
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NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
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rs797045483
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NM_004380.3(CREBBP):c.2233del (p.Ser745fs)
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rs2053092574
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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.2322del (p.Asn774fs)
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rs1596895545
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NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
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rs1596895500
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NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)
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rs2141214738
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NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
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rs1597054662
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NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
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rs1596894889
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NM_004380.3(CREBBP):c.2464-6T>A
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rs2052993184
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NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
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NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
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rs587783471
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NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
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rs2141203402
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NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
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rs587783473
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NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
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rs797045484
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NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
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rs1596886295
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NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
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rs143247685
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NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)
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rs1596886183
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NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
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rs1596886132
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NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
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rs1596886048
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NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
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rs587783475
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NM_004380.3(CREBBP):c.2794del (p.Thr932fs)
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rs2052980008
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NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
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NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
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rs797045485
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NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
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rs1596885894
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NM_004380.3(CREBBP):c.282dup (p.Val95fs)
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rs797045486
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NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
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NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
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rs1596885651
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NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
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rs587783476
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NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
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rs1596882629
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NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
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rs1374436403
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NM_004380.3(CREBBP):c.299del (p.Gly100fs)
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rs587783477
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NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
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rs797045487
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NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
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rs1596882124
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NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
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rs1596882010
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NM_004380.3(CREBBP):c.3060+1G>T
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rs1596882004
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NM_004380.3(CREBBP):c.3061-1G>T
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rs1555481030
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NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
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NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
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rs797045488
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NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
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rs1596878921
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NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
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NM_004380.3(CREBBP):c.314_315del (p.Gly105fs)
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rs1597054430
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NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
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rs1596878700
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NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
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rs587783478
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NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
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NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
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rs1596856390
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NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
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NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
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rs587783479
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NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
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rs1596856285
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NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
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rs1596856176
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NM_004380.3(CREBBP):c.3369+1G>A
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rs587783480
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NM_004380.3(CREBBP):c.3369+1G>T
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rs587783480
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NM_004380.3(CREBBP):c.3369+1del
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rs2151385509
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NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
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NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)
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rs2151383792
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NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
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rs1596854369
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NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
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rs797045489
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NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
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rs797045490
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NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
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rs797045491
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NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
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NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
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rs28937315
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NM_004380.3(CREBBP):c.3598del (p.Cys1200fs)
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rs2052622209
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NM_004380.3(CREBBP):c.3610-1G>A
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rs1596852670
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NM_004380.3(CREBBP):c.3610-1G>C
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rs1596852670
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NM_004380.3(CREBBP):c.3610-2A>G
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rs1596852674
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NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
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rs587783482
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NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
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rs1596852578
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NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs)
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rs2052610724
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NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
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rs1596852463
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NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
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rs1596852443
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NM_004380.3(CREBBP):c.3676del (p.Ala1226fs)
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rs2151381815
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NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
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rs748451307
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NM_004380.3(CREBBP):c.3699-1469_3836+1579del
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NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
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NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
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rs1597054242
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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.3779+1G>C
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rs587783483
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NM_004380.3(CREBBP):c.3779+1G>T
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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.3832del (p.Glu1278fs)
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rs1596834998
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NM_004380.3(CREBBP):c.3836+1G>A
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rs200782888
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NM_004380.3(CREBBP):c.3836+1G>C
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rs200782888
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NM_004380.3(CREBBP):c.3837-2A>T
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rs1567277287
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NM_004380.3(CREBBP):c.3914+1G>A
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rs1555475352
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NM_004380.3(CREBBP):c.3914+1G>T
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rs1555475352
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NM_004380.3(CREBBP):c.3977del (p.Ala1326fs)
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rs1567276741
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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.3983-2A>G
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rs587783486
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NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
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rs587783489
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NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)
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rs121434624
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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.4078dup (p.Arg1360fs)
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rs1596813570
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NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
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NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
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|
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
|
rs1596812306
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|
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
|
rs1596812256
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NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs)
|
rs1555473668
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NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
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|
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NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
|
rs1596812202
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NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
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|
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NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
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NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
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|
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)
|
rs2151334254
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|
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)
|
rs1555473491
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|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
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|
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)
|
rs2151330140
|
|
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
|
rs2052073167
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|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
|
|
|
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)
|
rs199817036
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|
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
|
|
|
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
|
rs2052070776
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
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|
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)
|
rs1596805575
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|
NM_004380.3(CREBBP):c.4561-1G>A
|
rs2151327974
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|
NM_004380.3(CREBBP):c.4561-2A>T
|
rs2151327978
|
|
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
|
|
|
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)
|
rs1555472938
|
|
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
|
|
|
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)
|
rs1567269316
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NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)
|
rs1555472931
|
|
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)
|
rs778375586
|
|
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs)
|
rs2151327706
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
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|
NM_004380.3(CREBBP):c.4728+2del
|
rs1596803811
|
|
NM_004380.3(CREBBP):c.472del (p.Gln158fs)
|
rs1555496581
|
|
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
|
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.4890+1G>A
|
rs1596793242
|
|
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs)
|
rs2151317319
|
|
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)
|
rs1555471874
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)
|
rs2051909999
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)
|
rs1555496560
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)
|
rs146718571
|
|
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
|
|
|
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs)
|
rs2151311901
|
|
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)
|
rs2151309803
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
|
|
|
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)
|
rs1567263114
|
|
NM_004380.3(CREBBP):c.567del (p.Asn190fs)
|
rs2054809165
|
|
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
|
|
|
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)
|
rs1555471323
|
|
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)
|
rs2151308835
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)
|
rs2151308298
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.581del (p.Gly194fs)
|
rs2141491677
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
|
rs1596786167
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
|
|
|
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
|
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
|
rs2051830234
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
|
|
|
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
|
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
|
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs)
|
rs2051819669
|
|
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)
|
rs1596783639
|
|
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
|
|
|
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
|
|
|
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
|
rs1597053322
|
|
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
|
|
|
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
|
|
|
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)
|
rs2053923868
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
|
|
|
NM_004380.3(CREBBP):c.85+2T>G
|
|
|
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
|
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
|
rs1596984633
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|