ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 622
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3727698)_(4802591_?)del
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_3744874)_(4337544_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)del
NC_000016.10:g.(?_3780712)_(3781326_?)del
NC_000016.10:g.(?_3791961)_(3792114_?)del
NC_000016.10:g.(?_3810583)_(3879936_?)del
NC_000016.10:g.(?_3879812)_(3879936_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3929813)_(4387545_?)dup
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NG_009873.1:g.(?_5000)_(160068_?)del
NM_001079846.1(CREBBP):c.1446_1447TC[1] (p.Leu483fs) rs1567309482
NM_001079846.1(CREBBP):c.2488_2489TC[2] (p.Leu831fs) rs587783473
NM_001079846.1(CREBBP):c.2565_2576delinsCC (p.Ser856fs) rs797045484
NM_001079846.1(CREBBP):c.2963_2971delinsAA (p.Leu988_Ala991delinsTer) rs797045488
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.*137C>T rs113567138
NM_001429.4(EP300):c.*138G>A rs75494658
NM_001429.4(EP300):c.*298A>G rs552755933
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.*352C>T rs577686550
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*52C>G rs542406106
NM_001429.4(EP300):c.*552G>A rs886057574
NM_001429.4(EP300):c.*559A>G rs886057575
NM_001429.4(EP300):c.*568A>G rs533563820
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*745del rs532524940
NM_001429.4(EP300):c.*753T>C rs886057576
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*815A>C rs572918594
NM_001429.4(EP300):c.*844G>A rs532999218
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922A>C rs146984033
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*924T>A rs149250603
NM_001429.4(EP300):c.*924T>C rs149250603
NM_001429.4(EP300):c.*926A>C rs140429533
NM_001429.4(EP300):c.*926_*927AC[18] rs59721178
NM_001429.4(EP300):c.*926_*927AC[20] rs59721178
NM_001429.4(EP300):c.*926_*927AC[22] rs59721178
NM_001429.4(EP300):c.*926_*927AC[23] rs59721178
NM_001429.4(EP300):c.*928A>C rs142198417
NM_001429.4(EP300):c.*930A>C rs879634387
NM_001429.4(EP300):c.*932A>C rs886057585
NM_001429.4(EP300):c.*938A>C rs886057586
NM_001429.4(EP300):c.*942A>C rs754018515
NM_001429.4(EP300):c.*968T>A rs3210590
NM_001429.4(EP300):c.-133A>G rs116913445
NM_001429.4(EP300):c.-139A>G rs886057554
NM_001429.4(EP300):c.-149G>A rs553861147
NM_001429.4(EP300):c.-192C>T rs763177046
NM_001429.4(EP300):c.-212C>T rs886057553
NM_001429.4(EP300):c.-237C>T rs886057552
NM_001429.4(EP300):c.-238T>C rs886057551
NM_001429.4(EP300):c.-363A>C rs886057550
NM_001429.4(EP300):c.102C>G (p.Gly34=) rs750031887
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.1283-8T>C rs76827562
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345
NM_001429.4(EP300):c.1508T>C (p.Met503Thr)
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1528+15T>C rs200147263
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1541T>C (p.Met514Thr)
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) rs1601610306
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.1878+1G>A
NM_001429.4(EP300):c.1878+9C>G rs186198699
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) rs1601613391
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2131+13A>T rs886057558
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2174T>C (p.Ile725Thr) rs375822328
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2244_2250TATGGGC[1] (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930
NM_001429.4(EP300):c.2536C>T (p.Pro846Ser) rs886057560
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2580A>G (p.Pro860=) rs752536439
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2629G>A (p.Ala877Thr) rs772289466
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2931G>C (p.Lys977Asn) rs749225428
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer)
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs) rs1601621506
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3143-1G>T
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-7T>G rs778277906
NM_001429.4(EP300):c.3143-9T>C rs199773872
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter) rs1601623271
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3367del (p.Met1124fs) rs1601624722
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter) rs1601624790
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4026-9A>G
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs)
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4598C>A (p.Thr1533Asn) rs886057561
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596
NM_001429.4(EP300):c.4908C>T (p.Asp1636=) rs886057562
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.494_497del (p.Met165fs) rs1601598354
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5061+7A>G rs886057563
NM_001429.4(EP300):c.5061+9C>T rs73176628
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.5179C>T (p.Pro1727Ser) rs886057564
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990
NM_001429.4(EP300):c.5262A>G (p.Ser1754=) rs886057565
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) rs1601640102
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.4(EP300):c.5889C>T (p.Ala1963=) rs886057566
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
NM_001429.4(EP300):c.615G>A (p.Met205Ile) rs766306644
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6358G>T (p.Gly2120Cys) rs886057567
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6395A>T (p.Asn2132Ile) rs886057569
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6516C>A (p.His2172Gln) rs139382344
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala) rs1358846937
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.684C>G (p.Pro228=) rs749187279
NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) rs1601642812
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821
NM_001429.4(EP300):c.832del (p.Thr278fs)
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.907-10T>C rs772628747
NM_001429.4(EP300):c.94+13A>G rs201124490
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553
NM_001429.4:c.730_1760del
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs) rs1567386034
NM_004380.3(CREBBP):c.1044del (p.Glu349fs) rs1596948052
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1125_1126AG[3] (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)
NM_004380.3(CREBBP):c.1216+2T>A rs1596947522
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs) rs1596944340
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter) rs587783463
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs) rs1567316655
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs)
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter) rs1596920745
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.1663del (p.Leu555fs)
NM_004380.3(CREBBP):c.1694del (p.Gly565fs) rs1596916327
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1941+1G>A rs1555483834
NM_004380.3(CREBBP):c.1941+1G>T rs1555483834
NM_004380.3(CREBBP):c.1941+2T>C rs1596909656
NM_004380.3(CREBBP):c.1941+5G>A
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014
NM_004380.3(CREBBP):c.2233del (p.Ser745fs)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.2322del (p.Asn774fs) rs1596895545
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2464-6T>A
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs) rs1596886295
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter) rs1596886183
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn)
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter) rs1596886132
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs) rs1596886048
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2794del (p.Thr932fs)
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs) rs1596885651
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs) rs1596882629
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter) rs1374436403
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) rs1596882124
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter) rs1596882010
NM_004380.3(CREBBP):c.3060+1G>T rs1596882004
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu)
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) rs587783479
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs) rs1596856285
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs) rs1596856176
NM_004380.3(CREBBP):c.3369+1G>A rs587783480
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs) rs1596854369
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) rs797045489
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs) rs797045490
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3610-1G>C rs1596852670
NM_004380.3(CREBBP):c.3610-2A>G rs1596852674
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) rs587783482
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs)
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs) rs1596852463
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs) rs1596852443
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr)
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3698+7G>A rs374345970
NM_004380.3(CREBBP):c.36del (p.Arg14fs)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter) rs1597054242
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln)
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs) rs1596834998
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974
NM_004380.3(CREBBP):c.3914+1G>A rs1555475352
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro) rs1596813665
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs) rs1596813570
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4133+4A>G rs372126168
NM_004380.3(CREBBP):c.4133+9G>A rs376602227
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter) rs1596812306
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu) rs1596812290
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro) rs778448390
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter) rs1596810465
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4394+8T>C rs750961246
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr) rs1596805927
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) rs587783495
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs) rs1596805807
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg) rs1596805792
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg) rs1596805575
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met) rs1596805575
NM_004380.3(CREBBP):c.4560+6C>T rs369973805
NM_004380.3(CREBBP):c.4560+7G>C rs587783498
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4642_4643GT[1] (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup) rs1596804073
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter) rs1567269316
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.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4728+2del rs1596803811
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.49del (p.Leu17fs)
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)
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu)
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471
NM_004380.3(CREBBP):c.567del (p.Asn190fs)
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
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.5837C>A (p.Pro1946Gln) rs765600316
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.5905C>T (p.Gln1969Ter) rs1567262537
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs) rs1596785514
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
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.6126G>T (p.Met2042Ile)
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
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)
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145
NM_004380.3(CREBBP):c.6600_6611GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr)
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004380.3(CREBBP):c.86-1G>T rs11644721
NM_004380.3(CREBBP):c.86-2A>C rs587783515
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702
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
Single allele

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