ClinVar Miner

List of variants reported as likely benign for Rubinstein-Taybi syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 926
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00081
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00074
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
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.458C>T (p.Pro153Leu) rs146538907 0.00038
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_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00022
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 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_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00018
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_001429.4(EP300):c.2765C>T (p.Ala922Val) rs150389014 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.6684G>A (p.Gln2228=) rs148504625 0.00016
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_001429.4(EP300):c.1539T>C (p.Pro513=) rs377140865 0.00013
NM_001429.4(EP300):c.2242-14T>G rs760859922 0.00013
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.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983 0.00011
NM_001429.4(EP300):c.2352G>A (p.Pro784=) rs140684440 0.00011
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00010
NM_001429.4(EP300):c.3143-7T>G rs778277906 0.00010
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063 0.00010
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823 0.00010
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 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.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile) rs763795718 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 0.00008
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867 0.00007
NM_001429.4(EP300):c.5832C>T (p.His1944=) rs142885571 0.00007
NM_001429.4(EP300):c.6406A>G (p.Met2136Val) rs372874467 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 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_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776 0.00006
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.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_001429.4(EP300):c.1529-16T>C rs1343155056 0.00005
NM_001429.4(EP300):c.1878+13T>C rs200466416 0.00005
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060 0.00005
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 0.00005
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090 0.00004
NM_001429.4(EP300):c.729+20G>T rs777496736 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 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.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.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 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.69G>A (p.Ser23=) rs766095612 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_001429.4(EP300):c.1528+15T>C rs200147263 0.00003
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793 0.00003
NM_001429.4(EP300):c.4172+16A>G rs777335301 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555 0.00003
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 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.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.6549G>A (p.Ala2183=) rs1348561145 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_001429.4(EP300):c.108A>G (p.Leu36=) rs374715858 0.00002
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00002
NM_001429.4(EP300):c.2766G>A (p.Ala922=) rs370810144 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.4980G>A (p.Thr1660=) rs570470790 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 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.3021G>C (p.Glu1007Asp) rs774653315 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.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 0.00002
NM_001429.4(EP300):c.12T>C (p.Asn4=) rs758604225 0.00001
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser) rs746628829 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser) rs775426461 0.00001
NM_001429.4(EP300):c.2145T>C (p.Phe715=) rs750344330 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn) rs760974878 0.00001
NM_001429.4(EP300):c.3501+17A>G rs774004879 0.00001
NM_001429.4(EP300):c.3502-9C>A rs752128445 0.00001
NM_001429.4(EP300):c.3573T>C (p.Tyr1191=) rs565779970 0.00001
NM_001429.4(EP300):c.3875-8A>C rs747796024 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 0.00001
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596 0.00001
NM_001429.4(EP300):c.5280G>A (p.Lys1760=) rs148892028 0.00001
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753 0.00001
NM_001429.4(EP300):c.6225C>T (p.His2075=) rs543501228 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.6582A>G (p.Gln2194=) rs761195313 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.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.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.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 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.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 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.62G>A (p.Gly21Asp) rs1211983012 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.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
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
NM_001429.4(EP300):c.1169-11C>G
NM_001429.4(EP300):c.1169-11C>T
NM_001429.4(EP300):c.1169-12T>C
NM_001429.4(EP300):c.1169-19T>A
NM_001429.4(EP300):c.1169-4T>C
NM_001429.4(EP300):c.1283-14T>C
NM_001429.4(EP300):c.1283-20A>G
NM_001429.4(EP300):c.1293T>C (p.Thr431=)
NM_001429.4(EP300):c.1308A>G (p.Gly436=)
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1355A>G (p.Asn452Ser)
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
NM_001429.4(EP300):c.1528+17C>G
NM_001429.4(EP300):c.1529-12A>G
NM_001429.4(EP300):c.1529-19T>G
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)
NM_001429.4(EP300):c.1622+10A>T
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
NM_001429.4(EP300):c.1683A>G (p.Gln561=)
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
NM_001429.4(EP300):c.1760+11T>C
NM_001429.4(EP300):c.1761-10C>G
NM_001429.4(EP300):c.1761-16G>A
NM_001429.4(EP300):c.1839G>A (p.Arg613=)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2053+17A>G
NM_001429.4(EP300):c.2053+8_2053+11del
NM_001429.4(EP300):c.2054-16C>T
NM_001429.4(EP300):c.2054-19T>C
NM_001429.4(EP300):c.2067T>C (p.Pro689=)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2132-11C>G
NM_001429.4(EP300):c.2132-15T>C
NM_001429.4(EP300):c.2132-8A>T
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
NM_001429.4(EP300):c.2184G>A (p.Arg728=)
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
NM_001429.4(EP300):c.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-7T>C
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp)
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
NM_001429.4(EP300):c.2818-18C>T
NM_001429.4(EP300):c.2818-19C>A
NM_001429.4(EP300):c.2818-20T>G
NM_001429.4(EP300):c.2818-5C>T
NM_001429.4(EP300):c.2818-8C>G
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
NM_001429.4(EP300):c.2997+10G>A
NM_001429.4(EP300):c.2997+14A>G
NM_001429.4(EP300):c.2998-13C>T
NM_001429.4(EP300):c.2998-3del rs528974321
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
NM_001429.4(EP300):c.3142+17A>T
NM_001429.4(EP300):c.3142+20C>T
NM_001429.4(EP300):c.3142+8T>C
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3258C>A (p.Ile1086=)
NM_001429.4(EP300):c.3261+11G>A
NM_001429.4(EP300):c.3261+14G>A
NM_001429.4(EP300):c.3261+8T>G
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln)
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=) rs952398016
NM_001429.4(EP300):c.342A>G (p.Gly114=)
NM_001429.4(EP300):c.346G>A (p.Gly116Ser)
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>T (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.3671+16A>C
NM_001429.4(EP300):c.3671+5_3671+7dup
NM_001429.4(EP300):c.3675A>G (p.Thr1225=)
NM_001429.4(EP300):c.3711C>T (p.Asp1237=)
NM_001429.4(EP300):c.3728+13C>T
NM_001429.4(EP300):c.3728+8C>T
NM_001429.4(EP300):c.3728+9G>A
NM_001429.4(EP300):c.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser)
NM_001429.4(EP300):c.3806+11A>G
NM_001429.4(EP300):c.3806+12C>T
NM_001429.4(EP300):c.3806+13G>A
NM_001429.4(EP300):c.3807-12G>A
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
NM_001429.4(EP300):c.3874+13C>T
NM_001429.4(EP300):c.3875-19_3875-18del
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
NM_001429.4(EP300):c.4025+12T>A
NM_001429.4(EP300):c.4026-11C>T
NM_001429.4(EP300):c.4026-12T>G
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=)
NM_001429.4(EP300):c.4149T>C (p.Ser1383=)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4172+11C>T
NM_001429.4(EP300):c.4172+16A>C
NM_001429.4(EP300):c.4172+7C>T
NM_001429.4(EP300):c.4173-15C>G
NM_001429.4(EP300):c.4173-17C>A
NM_001429.4(EP300):c.4173-4A>G
NM_001429.4(EP300):c.4221A>G (p.Lys1407=)
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4353T>C (p.His1451=)
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg)
NM_001429.4(EP300):c.4617+10T>C
NM_001429.4(EP300):c.4617+13A>G
NM_001429.4(EP300):c.4617+17dup
NM_001429.4(EP300):c.4617+9A>C
NM_001429.4(EP300):c.4618-19C>T
NM_001429.4(EP300):c.4618-9A>G
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
NM_001429.4(EP300):c.4780-11_4780-8del rs748277415
NM_001429.4(EP300):c.4780-12T>A
NM_001429.4(EP300):c.4780-14T>G
NM_001429.4(EP300):c.4780-21_4780-18del rs2059199595
NM_001429.4(EP300):c.4817C>T (p.Ala1606Val)
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
NM_001429.4(EP300):c.5100C>T (p.Asn1700=)
NM_001429.4(EP300):c.5122C>T (p.Leu1708=)
NM_001429.4(EP300):c.5154C>T (p.Asn1718=)
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
NM_001429.4(EP300):c.546T>C (p.Asn182=)
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)
NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
NM_001429.4(EP300):c.613A>G (p.Met205Val)
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
NM_001429.4(EP300):c.6165G>A (p.Leu2055=)
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp)
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875
NM_001429.4(EP300):c.6193C>T (p.Leu2065=)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
NM_001429.4(EP300):c.6468A>C (p.Pro2156=)
NM_001429.4(EP300):c.6489C>G (p.Pro2163=)
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val)
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln)
NM_001429.4(EP300):c.6546C>A (p.Ile2182=)
NM_001429.4(EP300):c.6561A>G (p.Gln2187=)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser)
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly)
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro)
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>A (p.His2324Asn)
NM_001429.4(EP300):c.6975C>T (p.Ser2325=)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
NM_001429.4(EP300):c.7242C>T (p.His2414=) rs1329691393
NM_001429.4(EP300):c.729+19T>C
NM_001429.4(EP300):c.729+8C>T
NM_001429.4(EP300):c.730-10T>A
NM_001429.4(EP300):c.730-20C>T
NM_001429.4(EP300):c.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
NM_001429.4(EP300):c.75G>A (p.Ala25=)
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.864T>C (p.Ala288=)
NM_001429.4(EP300):c.907-14G>A
NM_001429.4(EP300):c.94+10G>A
NM_001429.4(EP300):c.94+12C>T
NM_001429.4(EP300):c.94+17C>T
NM_001429.4(EP300):c.94+18_94+19insTC
NM_001429.4(EP300):c.94+19G>A
NM_001429.4(EP300):c.95-9T>C
NM_001429.4(EP300):c.960C>T (p.Ala320=)
NM_001429.4(EP300):c.984T>C (p.His328=)
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
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.1233T>C (p.Ser411=)
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.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
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.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
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+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.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
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+20C>T
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
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.2159-20C>T
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
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.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
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.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
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.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
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.2854G>T (p.Val952Leu)
NM_004380.3(CREBBP):c.2880+17_2880+18del
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.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
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.3234G>T (p.Ser1078=)
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.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-8C>G
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3837-19C>T
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
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+20C>T
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.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
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.3983-17C>G
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
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.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.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-19A>G
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
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.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
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.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+17G>A
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.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
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.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
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.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
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.5451G>A (p.Pro1817=)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
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.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
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.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
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.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
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.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
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.6633A>G (p.Gln2211=)
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
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.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
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.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.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
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.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
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+7_85+13del
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.86-20C>A
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.966G>A (p.Val322=)
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=)

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