ClinVar Miner

List of variants in gene CREBBP studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1519
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 0.00008
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3301C>T (p.Leu1101=) rs766505219 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.5172+19C>G rs371471977 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) rs773968231 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 0.00007
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4560+6C>T rs369973805 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 0.00005
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile) rs759041100 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=) rs769325049 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 0.00003
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr) rs373284909 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met) rs140133512 0.00003
NM_004380.3(CREBBP):c.4560+7G>C rs587783498 0.00003
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=) rs770241645 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=) rs146718571 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=) rs773118274 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145 0.00003
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu) rs765821935 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=) rs753242611 0.00002
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014 0.00002
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg) rs754981072 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.4394+8T>C rs750961246 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=) rs762565460 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 0.00002
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052 0.00001
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val) rs747187975 0.00001
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala) rs947001316 0.00001
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=) rs555628489 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg) rs746552957 0.00001
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala) rs1186080322 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=) rs762072105 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu) rs766844540 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile) rs774047746 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) rs1272691121 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.3837-18G>A rs780739661 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala) rs2052174869 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710 0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) rs1186493453 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln) rs1370704436 0.00001
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met) rs867074201 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) rs794727274 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=) rs759497776 0.00001
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=) rs762700575 0.00001
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=) rs772950054 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.651C>T (p.Gly217=) rs375403937 0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly) rs398124149 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) rs794727551 0.00001
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln) rs1064793091 0.00001
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215 0.00001
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) rs766962344 0.00001
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=) rs757539209 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.975+14G>A rs535745718 0.00001
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)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.(?_3781438)_(3788947_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786017)_(3860800_?)del
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)del
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3817701)_(3860800_?)del
NC_000016.9:g.(?_3823732)_(3824714_?)del
NC_000016.9:g.(?_3823732)_(3831327_?)del
NC_000016.9:g.(?_3827594)_(3832947_?)del
NC_000016.9:g.(?_3829526)_(3830870_?)del
NC_000016.9:g.(?_3841962)_(3843647_?)del
NC_000016.9:g.(?_3860584)_(3860800_?)del
NC_000016.9:g.(?_3900278)_(3901030_?)del
NC_000016.9:g.(?_3900278)_(3929917_?)del
NC_000016.9:g.(?_3929894)_(3931297_?)del
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
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.1068del (p.Gln356fs)
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro) rs1179677806
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu) rs2053545106
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu) rs2053544204
NM_004380.3(CREBBP):c.1216+2T>A rs1596947522
NM_004380.3(CREBBP):c.1216+4A>G
NM_004380.3(CREBBP):c.1217-16G>A
NM_004380.3(CREBBP):c.1217-17T>C
NM_004380.3(CREBBP):c.1217-19G>A
NM_004380.3(CREBBP):c.1217-20C>T
NM_004380.3(CREBBP):c.1217-4A>G
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1217-7G>T
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs) rs1596944340
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
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.1301A>T (p.Lys434Ile)
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
NM_004380.3(CREBBP):c.1330+16G>A
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.1331-24CTGT[2]
NM_004380.3(CREBBP):c.1331-24CTGT[4]
NM_004380.3(CREBBP):c.1331-7G>A
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) rs2053306001
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) rs2053305017
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter) rs1596920745
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1511_1517del (p.Val504fs)
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1574-14T>C
NM_004380.3(CREBBP):c.1574-15_1574-11del
NM_004380.3(CREBBP):c.1574-17C>A
NM_004380.3(CREBBP):c.1574-17C>G
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) rs398124138
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) rs2053266530
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
NM_004380.3(CREBBP):c.1676+11G>C
NM_004380.3(CREBBP):c.1676+13_1676+14insA
NM_004380.3(CREBBP):c.1676+2_1676+5del rs2141247044
NM_004380.3(CREBBP):c.1676+9C>T
NM_004380.3(CREBBP):c.1677-13A>G
NM_004380.3(CREBBP):c.1677-18T>C
NM_004380.3(CREBBP):c.1677-4T>G
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.1780G>A (p.Glu594Lys)
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro) rs2053254528
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1824-1G>C
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1911del (p.Asp639fs) rs2141237372
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) rs2141237064
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+18G>A
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+4G>C
NM_004380.3(CREBBP):c.1941+5G>A rs2053202354
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter) rs2053190428
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
NM_004380.3(CREBBP):c.2111del (p.Pro704fs)
NM_004380.3(CREBBP):c.2113+11T>C
NM_004380.3(CREBBP):c.2113+13T>C
NM_004380.3(CREBBP):c.2113+19A>G
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.2113+20C>T
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2158+14T>C
NM_004380.3(CREBBP):c.2158+18G>A
NM_004380.3(CREBBP):c.2158+19T>C
NM_004380.3(CREBBP):c.2159-12G>A
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2159-19G>A
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2159-20C>T
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
NM_004380.3(CREBBP):c.2170T>C (p.Phe724Leu)
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) rs2053092574
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2283+11T>C
NM_004380.3(CREBBP):c.2283+16C>T
NM_004380.3(CREBBP):c.2283+18C>G
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
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.2323A>G (p.Met775Val) rs990281677
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) rs1318683084
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr) rs1596895058
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2463+4C>T
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.2464-6T>A rs2052993184
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile) rs759041100
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser) rs2052990480
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs) rs587783473
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs) rs797045484
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs) rs1596886295
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter) rs1596886183
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter) rs1596886132
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs) rs1596886048
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2794del (p.Thr932fs) rs2052980008
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del) rs2141199443
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
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.2880+17_2880+18del
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2881-14C>G
NM_004380.3(CREBBP):c.2881-14C>T
NM_004380.3(CREBBP):c.2881-17T>C
NM_004380.3(CREBBP):c.2881-18C>A
NM_004380.3(CREBBP):c.2881-4A>G
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr) rs147795744
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs) rs1596882629
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter) rs1374436403
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) rs1596882124
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter) rs1596882010
NM_004380.3(CREBBP):c.3060+1G>T rs1596882004
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer) rs797045488
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) rs1476678901
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn) rs2141181124
NM_004380.3(CREBBP):c.3250+11T>C
NM_004380.3(CREBBP):c.3250+15C>T
NM_004380.3(CREBBP):c.3250+16A>T
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-8C>G
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
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.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
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.3369+1del rs2151385509
NM_004380.3(CREBBP):c.336G>C (p.Met112Ile)
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3370-2A>G rs866703165
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3374_3377dup (p.Phe1126fs)
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs) rs2151383848
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro) rs2151383792
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.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs) rs797045490
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
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.3494_3497dup (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3499del (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr) rs2151383193
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs) rs2052622209
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3610-1G>A rs1596852670
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.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs) rs2052610724
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)
NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)
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.3667C>T (p.Arg1223Cys)
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr) rs2052609627
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs) rs2151381815
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3698+6C>T
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter) rs1597054242
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) rs267606752
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs) rs1596834998
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3836+5G>A
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) rs749189606
NM_004380.3(CREBBP):c.3837-19C>T
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys) rs2151355973
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His) rs2052315739
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser) rs2151355349
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
NM_004380.3(CREBBP):c.3914+11T>A
NM_004380.3(CREBBP):c.3914+11T>G
NM_004380.3(CREBBP):c.3914+13C>T
NM_004380.3(CREBBP):c.3914+17_3914+32del
NM_004380.3(CREBBP):c.3914+1G>A rs1555475352
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3914+20C>T
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3915-15A>G
NM_004380.3(CREBBP):c.3915-20A>C
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) rs760292945
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=) rs2151353919
NM_004380.3(CREBBP):c.3982+14A>C
NM_004380.3(CREBBP):c.3982+15del
NM_004380.3(CREBBP):c.3982+19T>C
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.3983-17C>G
NM_004380.3(CREBBP):c.3983-1G>C rs2151341377
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp) rs2151341032
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.4043G>A (p.Arg1348His)
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
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.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4133+20A>G
NM_004380.3(CREBBP):c.4133+6TG[4]
NM_004380.3(CREBBP):c.4133+7G>A
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
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.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) rs200616542
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281-19A>G
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.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) rs928061320
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+3G>A
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4394+5G>C
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4395-3_4395-1delinsTCAC
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs) rs2151330140
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) rs2052073167
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
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.4438GAT[1] (p.Asp1481del)
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
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.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
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>A (p.Pro1489Thr)
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) rs199817036
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) rs2052070776
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4540C>T (p.Arg1514Trp)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
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+10G>A
NM_004380.3(CREBBP):c.4560+11C>A
NM_004380.3(CREBBP):c.4560+20G>T
NM_004380.3(CREBBP):c.4561-1G>A rs2151327974
NM_004380.3(CREBBP):c.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-2A>T rs2151327978
NM_004380.3(CREBBP):c.4561-3C>A
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
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.4649A>C (p.Glu1550Ala)
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter) rs1567269316
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) rs1555472931
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) rs778375586
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) rs2151327706
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
NM_004380.3(CREBBP):c.4728+2del rs1596803811
NM_004380.3(CREBBP):c.4728+4C>G
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser) rs2151319330
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4812del (p.Asn1604fs)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4890+17G>A
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.4890+8T>C
NM_004380.3(CREBBP):c.4891-12C>T
NM_004380.3(CREBBP):c.4891-17C>T
NM_004380.3(CREBBP):c.4891-6C>T
NM_004380.3(CREBBP):c.4891-8T>C
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) rs2151317319
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) rs1555471874
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
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.5034C>T (p.Phe1678=)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
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.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu) rs1275659601
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) rs146718571
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5172+4G>A
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) rs2051863859
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs) rs2151311901
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) rs2151311865
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5377C>T (p.Pro1793Ser)
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) rs2151309803
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro) rs770325046
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro) rs2051850835
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
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.5695A>G (p.Thr1899Ala)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) rs2151308835
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu) rs2051845365
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) rs2151308298
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) rs2151308115
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.581del (p.Gly194fs) rs2141491677
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs) rs1567262786
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs) rs587783506
NM_004380.3(CREBBP):c.5836_5837del (p.Pro1946fs)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) rs1231016252
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
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.5873C>T (p.Ala1958Val) rs986406817
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter) rs1567262537
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
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.599A>G (p.Gln200Arg)
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser) rs1282498604
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
NM_004380.3(CREBBP):c.6046_6049del (p.Met2016fs)
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) rs2051830234
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs) rs797045499
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6111del (p.Arg2037fs)
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.6116dup (p.Ile2040fs)
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
NM_004380.3(CREBBP):c.6122C>G (p.Ser2041Cys)
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter) rs2051825168
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup) rs772003652
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter) rs2151304304
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
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.6398T>C (p.Met2133Thr)
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) rs2051819669
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser) rs773348705
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) rs1358192617
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del) rs2151302749
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del) rs778507028
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.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala) rs2054806972
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu) rs1191357764
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg) rs2054805900
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) rs763948946
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) rs934317603
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.758A>G (p.His253Arg) rs142268920
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) rs2053923868
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
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+11G>A
NM_004380.3(CREBBP):c.85+13_85+28del
NM_004380.3(CREBBP):c.85+14C>T
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004380.3(CREBBP):c.85+2T>G
NM_004380.3(CREBBP):c.85+7_85+13del
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
NM_004380.3(CREBBP):c.86-1G>T rs11644721
NM_004380.3(CREBBP):c.86-20C>A
NM_004380.3(CREBBP):c.86-2A>C rs587783515
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_004380.3(CREBBP):c.927C>G (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs) rs1596984633
NM_004380.3(CREBBP):c.975+3A>G
NM_004380.3(CREBBP):c.975+9C>A
NM_004380.3(CREBBP):c.976-12G>T
NM_004380.3(CREBBP):c.976-20A>G
NM_004380.3(CREBBP):c.976-4T>G
NM_004380.3(CREBBP):c.976-6T>C
NM_004380.3(CREBBP):c.987A>G (p.Gln329=) rs778596455
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter) rs1596948165
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu) rs2053548814

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