Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3778069T>A	CA394554457	CREBBP	c.2055A>T (p.Leu685Phe) c.1941A>T (p.Leu647Phe) c.660A>T (p.Leu220Phe) c.104A>T c.368A>T n.217A>T c.2001A>T (p.Leu667Phe) c.1302A>T (p.Leu434Phe)
16	g.3778069T>C	CA493276283	CREBBP	c.2055A>G (p.Leu685=) c.1941A>G (p.Leu647=) c.660A>G (p.Leu220=) c.104A>G c.368A>G n.217A>G c.2001A>G (p.Leu667=) c.1302A>G (p.Leu434=)	dbSNP
16	g.3778069T>G	CA394554459	CREBBP	c.2055A>C (p.Leu685Phe) c.1941A>C (p.Leu647Phe) c.660A>C (p.Leu220Phe) c.104A>C c.368A>C n.217A>C c.2001A>C (p.Leu667Phe) c.1302A>C (p.Leu434Phe)	dbSNP
16	g.3778069T=	CA2202958753	CREBBP	c.2055A= (p.Leu685=) c.1941A= (p.Leu647=) c.660A= (p.Leu220=) c.104A= c.368A= n.217A= c.2001A= (p.Leu667=) c.1302A= (p.Leu434=)
16	g.3778070A=	CA2202958758	CREBBP	c.2054T= (p.Leu685=) c.1940T= (p.Leu647=) c.659T= (p.Leu220=) c.103T= c.367T= n.216T= c.2000T= (p.Leu667=) c.1301T= (p.Leu434=)
16	g.3778070A>C	CA394554462	CREBBP	c.2054T>G (p.Leu685Ter) c.1940T>G (p.Leu647Ter) c.659T>G (p.Leu220Ter) c.103T>G c.367T>G n.216T>G c.2000T>G (p.Leu667Ter) c.1301T>G (p.Leu434Ter)
16	g.3778070A>G	CA394554464	CREBBP	c.2054T>C (p.Leu685Ser) c.1940T>C (p.Leu647Ser) c.659T>C (p.Leu220Ser) c.103T>C c.367T>C n.216T>C c.2000T>C (p.Leu667Ser) c.1301T>C (p.Leu434Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.3778070A>T	CA394554466	CREBBP	c.2054T>A (p.Leu685Ter) c.1940T>A (p.Leu647Ter) c.659T>A (p.Leu220Ter) c.103T>A c.367T>A n.216T>A c.2000T>A (p.Leu667Ter) c.1301T>A (p.Leu434Ter)	dbSNP
16	g.3778070_3778078dup	CA2202958757	CREBBP	c.2046_2054dup (p.Leu685_Pro686insProAlaLeu) c.1932_1940dup (p.Leu647_Pro648insProAlaLeu) c.651_659dup (p.Leu220_Pro221insProAlaLeu) c.95_103dup c.359_367dup n.208_216dup c.1992_2000dup (p.Leu667_Pro668insProAlaLeu) c.1293_1301dup (p.Leu434_Pro435insProAlaLeu)	dbSNP gnomAD v4
16	g.3778071A>C	CA394554468	CREBBP	c.2053T>G (p.Leu685Val) c.1939T>G (p.Leu647Val) c.658T>G (p.Leu220Val) c.102T>G c.366T>G n.215T>G c.1999T>G (p.Leu667Val) c.1300T>G (p.Leu434Val)
16	g.3778071A>G	CA493276284	CREBBP	c.2053T>C (p.Leu685=) c.1939T>C (p.Leu647=) c.658T>C (p.Leu220=) c.102T>C c.366T>C n.215T>C c.1999T>C (p.Leu667=) c.1300T>C (p.Leu434=)	dbSNP
16	g.3778071A>T	CA394554470	CREBBP	c.2053T>A (p.Leu685Ile) c.1939T>A (p.Leu647Ile) c.658T>A (p.Leu220Ile) c.102T>A c.366T>A n.215T>A c.1999T>A (p.Leu667Ile) c.1300T>A (p.Leu434Ile)	dbSNP
16	g.3778072G>A	CA493276285	CREBBP	c.2052C>T (p.Ala684=) c.1938C>T (p.Ala646=) c.657C>T (p.Ala219=) c.101C>T c.365C>T n.214C>T c.1998C>T (p.Ala666=) c.1299C>T (p.Ala433=)	dbSNP
16	g.3778072G>C	CA493276286	CREBBP	c.2052C>G (p.Ala684=) c.1938C>G (p.Ala646=) c.657C>G (p.Ala219=) c.101C>G c.365C>G n.214C>G c.1998C>G (p.Ala666=) c.1299C>G (p.Ala433=)	dbSNP gnomAD v4
16	g.3778072G>T	CA493276287	CREBBP	c.2052C>A (p.Ala684=) c.1938C>A (p.Ala646=) c.657C>A (p.Ala219=) c.101C>A c.365C>A n.214C>A c.1998C>A (p.Ala666=) c.1299C>A (p.Ala433=)
16	g.3778073G>A	CA394554475	CREBBP	c.2051C>T (p.Ala684Val) c.1937C>T (p.Ala646Val) c.656C>T (p.Ala219Val) c.100C>T c.364C>T n.213C>T c.1997C>T (p.Ala666Val) c.1298C>T (p.Ala433Val)	dbSNP
16	g.3778073G>C	CA394554473	CREBBP	c.2051C>G (p.Ala684Gly) c.1937C>G (p.Ala646Gly) c.656C>G (p.Ala219Gly) c.100C>G c.364C>G n.213C>G c.1997C>G (p.Ala666Gly) c.1298C>G (p.Ala433Gly)	dbSNP
16	g.3778073G>T	CA394554472	CREBBP	c.2051C>A (p.Ala684Asp) c.1937C>A (p.Ala646Asp) c.656C>A (p.Ala219Asp) c.100C>A c.364C>A n.213C>A c.1997C>A (p.Ala666Asp) c.1298C>A (p.Ala433Asp)
16	g.3778074C>A	CA394554478	CREBBP	c.2050G>T (p.Ala684Ser) c.1936G>T (p.Ala646Ser) c.655G>T (p.Ala219Ser) c.99G>T c.363G>T n.212G>T c.1996G>T (p.Ala666Ser) c.1297G>T (p.Ala433Ser)	ClinVar dbSNP
16	g.3778074C=	CA2202958760	CREBBP	c.2050G= (p.Ala684=) c.1936G= (p.Ala646=) c.655G= (p.Ala219=) c.99G= c.363G= n.212G= c.1996G= (p.Ala666=) c.1297G= (p.Ala433=)
16	g.3778074C>G	CA394554479	CREBBP	c.2050G>C (p.Ala684Pro) c.1936G>C (p.Ala646Pro) c.655G>C (p.Ala219Pro) c.99G>C c.363G>C n.212G>C c.1996G>C (p.Ala666Pro) c.1297G>C (p.Ala433Pro)	dbSNP
16	g.3778074C>T	CA158207	CREBBP	c.2050G>A (p.Ala684Thr) c.1936G>A (p.Ala646Thr) c.655G>A (p.Ala219Thr) c.99G>A c.363G>A n.212G>A c.1996G>A (p.Ala666Thr) c.1297G>A (p.Ala433Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3778075T>A	CA493276288	CREBBP	c.2049A>T (p.Pro683=) c.1935A>T (p.Pro645=) c.654A>T (p.Pro218=) c.98A>T c.362A>T n.211A>T c.1995A>T (p.Pro665=) c.1296A>T (p.Pro432=)
16	g.3778075T>C	CA7870291	CREBBP	c.2049A>G (p.Pro683=) c.1935A>G (p.Pro645=) c.654A>G (p.Pro218=) c.98A>G c.362A>G n.211A>G c.1995A>G (p.Pro665=) c.1296A>G (p.Pro432=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778075T>G	CA493276289	CREBBP	c.2049A>C (p.Pro683=) c.1935A>C (p.Pro645=) c.654A>C (p.Pro218=) c.98A>C c.362A>C n.211A>C c.1995A>C (p.Pro665=) c.1296A>C (p.Pro432=)	dbSNP gnomAD v3 gnomAD v4
16	g.3778075T=	CA2202958764	CREBBP	c.2049A= (p.Pro683=) c.1935A= (p.Pro645=) c.654A= (p.Pro218=) c.98A= c.362A= n.211A= c.1995A= (p.Pro665=) c.1296A= (p.Pro432=)
16	g.3778076G>A	CA394554483	CREBBP	c.2048C>T (p.Pro683Leu) c.1934C>T (p.Pro645Leu) c.653C>T (p.Pro218Leu) c.97C>T c.361C>T n.210C>T c.1994C>T (p.Pro665Leu) c.1295C>T (p.Pro432Leu)	dbSNP gnomAD v4
16	g.3778076G>C	CA394554485	CREBBP	c.2048C>G (p.Pro683Arg) c.1934C>G (p.Pro645Arg) c.653C>G (p.Pro218Arg) c.97C>G c.361C>G n.210C>G c.1994C>G (p.Pro665Arg) c.1295C>G (p.Pro432Arg)	dbSNP
16	g.3778076G>T	CA394554487	CREBBP	c.2048C>A (p.Pro683Gln) c.1934C>A (p.Pro645Gln) c.653C>A (p.Pro218Gln) c.97C>A c.361C>A n.210C>A c.1994C>A (p.Pro665Gln) c.1295C>A (p.Pro432Gln)	dbSNP
16	g.3778077G>A	CA394554489	CREBBP	c.2047C>T (p.Pro683Ser) c.1933C>T (p.Pro645Ser) c.652C>T (p.Pro218Ser) c.96C>T c.360C>T n.209C>T c.1993C>T (p.Pro665Ser) c.1294C>T (p.Pro432Ser)	dbSNP
16	g.3778077G>C	CA394554491	CREBBP	c.2047C>G (p.Pro683Ala) c.1933C>G (p.Pro645Ala) c.652C>G (p.Pro218Ala) c.96C>G c.360C>G n.209C>G c.1993C>G (p.Pro665Ala) c.1294C>G (p.Pro432Ala)	dbSNP
16	g.3778077G>T	CA394554493	CREBBP	c.2047C>A (p.Pro683Thr) c.1933C>A (p.Pro645Thr) c.652C>A (p.Pro218Thr) c.96C>A c.360C>A n.209C>A c.1993C>A (p.Pro665Thr) c.1294C>A (p.Pro432Thr)	dbSNP
16	g.3778078C>A	CA394554494	CREBBP	c.2046G>T (p.Gln682His) c.1932G>T (p.Gln644His) c.651G>T (p.Gln217His) c.95G>T c.359G>T n.208G>T c.1992G>T (p.Gln664His) c.1293G>T (p.Gln431His)
16	g.3778078C>G	CA394554496	CREBBP	c.2046G>C (p.Gln682His) c.1932G>C (p.Gln644His) c.651G>C (p.Gln217His) c.95G>C c.359G>C n.208G>C c.1992G>C (p.Gln664His) c.1293G>C (p.Gln431His)	dbSNP gnomAD v4
16	g.3778078C>T	CA493276290	CREBBP	c.2046G>A (p.Gln682=) c.1932G>A (p.Gln644=) c.651G>A (p.Gln217=) c.95G>A c.359G>A n.208G>A c.1992G>A (p.Gln664=) c.1293G>A (p.Gln431=)
16	g.3778079T>A	CA394554501	CREBBP	c.2045A>T (p.Gln682Leu) c.1931A>T (p.Gln644Leu) c.650A>T (p.Gln217Leu) c.94A>T c.358A>T n.207A>T c.1991A>T (p.Gln664Leu) c.1292A>T (p.Gln431Leu)	dbSNP
16	g.3778079T>C	CA394554500	CREBBP	c.2045A>G (p.Gln682Arg) c.1931A>G (p.Gln644Arg) c.650A>G (p.Gln217Arg) c.94A>G c.358A>G n.207A>G c.1991A>G (p.Gln664Arg) c.1292A>G (p.Gln431Arg)
16	g.3778079T>G	CA394554498	CREBBP	c.2045A>C (p.Gln682Pro) c.1931A>C (p.Gln644Pro) c.650A>C (p.Gln217Pro) c.94A>C c.358A>C n.207A>C c.1991A>C (p.Gln664Pro) c.1292A>C (p.Gln431Pro)
16	g.3778079dup	CA2695222675	CREBBP	c.2045dup (p.Pro683AlafsTer?) c.1931dup (p.Pro645AlafsTer?) c.650dup (p.Pro218AlafsTer?) c.94dup c.358dup n.207dup c.2045dup (p.Pro683AlafsTer28) c.1991dup (p.Pro665AlafsTer?) c.1292dup (p.Pro432AlafsTer?)
16	g.3778080G>A	CA394554504	CREBBP	c.2044C>T (p.Gln682Ter) c.1930C>T (p.Gln644Ter) c.649C>T (p.Gln217Ter) c.93C>T c.357C>T n.206C>T c.1990C>T (p.Gln664Ter) c.1291C>T (p.Gln431Ter)	dbSNP
16	g.3778080G>C	CA394554507	CREBBP	c.2044C>G (p.Gln682Glu) c.1930C>G (p.Gln644Glu) c.649C>G (p.Gln217Glu) c.93C>G c.357C>G n.206C>G c.1990C>G (p.Gln664Glu) c.1291C>G (p.Gln431Glu)	dbSNP
16	g.3778080G>T	CA394554506	CREBBP	c.2044C>A (p.Gln682Lys) c.1930C>A (p.Gln644Lys) c.649C>A (p.Gln217Lys) c.93C>A c.357C>A n.206C>A c.1990C>A (p.Gln664Lys) c.1291C>A (p.Gln431Lys)
16	g.3778081G>A	CA7870292	CREBBP	c.2043C>T (p.Asn681=) c.1929C>T (p.Asn643=) c.648C>T (p.Asn216=) c.92C>T c.356C>T n.205C>T c.1989C>T (p.Asn663=) c.1290C>T (p.Asn430=)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16	g.3778081G>C	CA394554511	CREBBP	c.2043C>G (p.Asn681Lys) c.1929C>G (p.Asn643Lys) c.648C>G (p.Asn216Lys) c.92C>G c.356C>G n.205C>G c.1989C>G (p.Asn663Lys) c.1290C>G (p.Asn430Lys)	dbSNP
16	g.3778081G=	CA2202958766	CREBBP	c.2043C= (p.Asn681=) c.1929C= (p.Asn643=) c.648C= (p.Asn216=) c.92C= c.356C= n.205C= c.1989C= (p.Asn663=) c.1290C= (p.Asn430=)
16	g.3778081G>T	CA394554512	CREBBP	c.2043C>A (p.Asn681Lys) c.1929C>A (p.Asn643Lys) c.648C>A (p.Asn216Lys) c.92C>A c.356C>A n.205C>A c.1989C>A (p.Asn663Lys) c.1290C>A (p.Asn430Lys)
16	g.3778082T>A	CA394554513	CREBBP	c.2042A>T (p.Asn681Ile) c.1928A>T (p.Asn643Ile) c.647A>T (p.Asn216Ile) c.91A>T c.355A>T n.204A>T c.1988A>T (p.Asn663Ile) c.1289A>T (p.Asn430Ile)	dbSNP
16	g.3778082T>C	CA394554515	CREBBP	c.2042A>G (p.Asn681Ser) c.1928A>G (p.Asn643Ser) c.647A>G (p.Asn216Ser) c.91A>G c.355A>G n.204A>G c.1988A>G (p.Asn663Ser) c.1289A>G (p.Asn430Ser)	dbSNP
16	g.3778082T>G	CA7870293	CREBBP	c.2042A>C (p.Asn681Thr) c.1928A>C (p.Asn643Thr) c.647A>C (p.Asn216Thr) c.91A>C c.355A>C n.204A>C c.1988A>C (p.Asn663Thr) c.1289A>C (p.Asn430Thr)	dbSNP ExAC gnomAD v4
16	g.3778082T=	CA2202958768	CREBBP	c.2042A= (p.Asn681=) c.1928A= (p.Asn643=) c.647A= (p.Asn216=) c.91A= c.355A= n.204A= c.1988A= (p.Asn663=) c.1289A= (p.Asn430=)
16	g.3778082_3778083insG	CA2695222676	CREBBP	c.2041_2042insC (p.Asn681ThrfsTer?) c.1927_1928insC (p.Asn643ThrfsTer?) c.646_647insC (p.Asn216ThrfsTer?) c.90_91insC c.354_355insC n.203_204insC c.2041_2042insC (p.Asn681ThrfsTer30) c.1987_1988insC (p.Asn663ThrfsTer?) c.1288_1289insC (p.Asn430ThrfsTer?)
16	g.3778083T>A	CA394554516	CREBBP	c.2041A>T (p.Asn681Tyr) c.1927A>T (p.Asn643Tyr) c.646A>T (p.Asn216Tyr) c.90A>T c.354A>T n.203A>T c.1987A>T (p.Asn663Tyr) c.1288A>T (p.Asn430Tyr)
16	g.3778083T>C	CA394554517	CREBBP	c.2041A>G (p.Asn681Asp) c.1927A>G (p.Asn643Asp) c.646A>G (p.Asn216Asp) c.90A>G c.354A>G n.203A>G c.1987A>G (p.Asn663Asp) c.1288A>G (p.Asn430Asp)
16	g.3778083T>G	CA394554519	CREBBP	c.2041A>C (p.Asn681His) c.1927A>C (p.Asn643His) c.646A>C (p.Asn216His) c.90A>C c.354A>C n.203A>C c.1987A>C (p.Asn663His) c.1288A>C (p.Asn430His)
16	g.3778084C>A	CA493276291	CREBBP	c.2040G>T (p.Gly680=) c.1926G>T (p.Gly642=) c.645G>T (p.Gly215=) c.89G>T c.353G>T n.202G>T c.1986G>T (p.Gly662=) c.1287G>T (p.Gly429=)	dbSNP
16	g.3778084C=	CA2202958772	CREBBP	c.2040G= (p.Gly680=) c.1926G= (p.Gly642=) c.645G= (p.Gly215=) c.89G= c.353G= n.202G= c.1986G= (p.Gly662=) c.1287G= (p.Gly429=)
16	g.3778084C>G	CA493276292	CREBBP	c.2040G>C (p.Gly680=) c.1926G>C (p.Gly642=) c.645G>C (p.Gly215=) c.89G>C c.353G>C n.202G>C c.1986G>C (p.Gly662=) c.1287G>C (p.Gly429=)	dbSNP
16	g.3778084C>T	CA7870294	CREBBP	c.2040G>A (p.Gly680=) c.1926G>A (p.Gly642=) c.645G>A (p.Gly215=) c.89G>A c.353G>A n.202G>A c.1986G>A (p.Gly662=) c.1287G>A (p.Gly429=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778085C>A	CA394554526	CREBBP	c.2039G>T (p.Gly680Val) c.1925G>T (p.Gly642Val) c.644G>T (p.Gly215Val) c.88G>T c.352G>T n.201G>T c.1985G>T (p.Gly662Val) c.1286G>T (p.Gly429Val)	dbSNP
16	g.3778085C>G	CA394554524	CREBBP	c.2039G>C (p.Gly680Ala) c.1925G>C (p.Gly642Ala) c.644G>C (p.Gly215Ala) c.88G>C c.352G>C n.201G>C c.1985G>C (p.Gly662Ala) c.1286G>C (p.Gly429Ala)	dbSNP
16	g.3778085C>T	CA394554522	CREBBP	c.2039G>A (p.Gly680Glu) c.1925G>A (p.Gly642Glu) c.644G>A (p.Gly215Glu) c.88G>A c.352G>A n.201G>A c.1985G>A (p.Gly662Glu) c.1286G>A (p.Gly429Glu)	dbSNP
16	g.3778086C>A	CA394554528	CREBBP	c.2038G>T (p.Gly680Trp) c.1924G>T (p.Gly642Trp) c.643G>T (p.Gly215Trp) c.87G>T c.351G>T n.200G>T c.1984G>T (p.Gly662Trp) c.1285G>T (p.Gly429Trp)	dbSNP
16	g.3778086C=	CA2202958776	CREBBP	c.2038G= (p.Gly680=) c.1924G= (p.Gly642=) c.643G= (p.Gly215=) c.87G= c.351G= n.200G= c.1984G= (p.Gly662=) c.1285G= (p.Gly429=)
16	g.3778086C>G	CA394554529	CREBBP	c.2038G>C (p.Gly680Arg) c.1924G>C (p.Gly642Arg) c.643G>C (p.Gly215Arg) c.87G>C c.351G>C n.200G>C c.1984G>C (p.Gly662Arg) c.1285G>C (p.Gly429Arg)	dbSNP
16	g.3778086C>T	CA394554531	CREBBP	c.2038G>A (p.Gly680Arg) c.1924G>A (p.Gly642Arg) c.643G>A (p.Gly215Arg) c.87G>A c.351G>A n.200G>A c.1984G>A (p.Gly662Arg) c.1285G>A (p.Gly429Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778086_3778092delinsCCAAGAT	CA2202958778	CREBBP	c.2032_2038delinsATCTTGG (p.Ile678=) c.1918_1924delinsATCTTGG (p.Ile640=) c.637_643delinsATCTTGG (p.Ile213=) c.81_87delinsATCTTGG c.345_351delinsATCTTGG n.194_200delinsATCTTGG c.1978_1984delinsATCTTGG (p.Ile660=) c.1279_1285delinsATCTTGG (p.Ile427=)
16	g.3778087C>A	CA394554533	CREBBP	c.2037G>T (p.Leu679Phe) c.1923G>T (p.Leu641Phe) c.642G>T (p.Leu214Phe) c.86G>T c.350G>T n.199G>T c.1983G>T (p.Leu661Phe) c.1284G>T (p.Leu428Phe)	dbSNP
16	g.3778087C=	CA2202958780	CREBBP	c.2037G= (p.Leu679=) c.1923G= (p.Leu641=) c.642G= (p.Leu214=) c.86G= c.350G= n.199G= c.1983G= (p.Leu661=) c.1284G= (p.Leu428=)
16	g.3778087C>G	CA394554534	CREBBP	c.2037G>C (p.Leu679Phe) c.1923G>C (p.Leu641Phe) c.642G>C (p.Leu214Phe) c.86G>C c.350G>C n.199G>C c.1983G>C (p.Leu661Phe) c.1284G>C (p.Leu428Phe)	dbSNP
16	g.3778087C>T	CA493276293	CREBBP	c.2037G>A (p.Leu679=) c.1923G>A (p.Leu641=) c.642G>A (p.Leu214=) c.86G>A c.350G>A n.199G>A c.1983G>A (p.Leu661=) c.1284G>A (p.Leu428=)	dbSNP
16	g.3778087_3778092del	CA720710645	CREBBP	c.2032_2037del (p.Ile678_Leu679del) c.1918_1923del (p.Ile640_Leu641del) c.637_642del (p.Ile213_Leu214del) c.81_86del c.345_350del n.194_199del c.1978_1983del (p.Ile660_Leu661del) c.1279_1284del (p.Ile427_Leu428del)	dbSNP gnomAD v4
16	g.3778088A=	CA2202958782	CREBBP	c.2036T= (p.Leu679=) c.1922T= (p.Leu641=) c.641T= (p.Leu214=) c.85T= c.349T= n.198T= c.1982T= (p.Leu661=) c.1283T= (p.Leu428=)
16	g.3778088A>C	CA394554537	CREBBP	c.2036T>G (p.Leu679Trp) c.1922T>G (p.Leu641Trp) c.641T>G (p.Leu214Trp) c.85T>G c.349T>G n.198T>G c.1982T>G (p.Leu661Trp) c.1283T>G (p.Leu428Trp)
16	g.3778088A>G	CA394554538	CREBBP	c.2036T>C (p.Leu679Ser) c.1922T>C (p.Leu641Ser) c.641T>C (p.Leu214Ser) c.85T>C c.349T>C n.198T>C c.1982T>C (p.Leu661Ser) c.1283T>C (p.Leu428Ser)	ClinVar dbSNP gnomAD v4
16	g.3778088A>T	CA394554539	CREBBP	c.2036T>A (p.Leu679Ter) c.1922T>A (p.Leu641Ter) c.641T>A (p.Leu214Ter) c.85T>A c.349T>A n.198T>A c.1982T>A (p.Leu661Ter) c.1283T>A (p.Leu428Ter)	dbSNP
16	g.3778089A>C	CA394554541	CREBBP	c.2035T>G (p.Leu679Val) c.1921T>G (p.Leu641Val) c.640T>G (p.Leu214Val) c.84T>G c.348T>G n.197T>G c.1981T>G (p.Leu661Val) c.1282T>G (p.Leu428Val)
16	g.3778089A>G	CA493276294	CREBBP	c.2035T>C (p.Leu679=) c.1921T>C (p.Leu641=) c.640T>C (p.Leu214=) c.84T>C c.348T>C n.197T>C c.1981T>C (p.Leu661=) c.1282T>C (p.Leu428=)
16	g.3778089A>T	CA394554543	CREBBP	c.2035T>A (p.Leu679Met) c.1921T>A (p.Leu641Met) c.640T>A (p.Leu214Met) c.84T>A c.348T>A n.197T>A c.1981T>A (p.Leu661Met) c.1282T>A (p.Leu428Met)
16	g.3778090G>A	CA222679	CREBBP	c.2034C>T (p.Ile678=) c.1920C>T (p.Ile640=) c.639C>T (p.Ile213=) c.83C>T c.347C>T n.196C>T c.1980C>T (p.Ile660=) c.1281C>T (p.Ile427=)	ClinVar dbSNP
16	g.3778090G>C	CA394554544	CREBBP	c.2034C>G (p.Ile678Met) c.1920C>G (p.Ile640Met) c.639C>G (p.Ile213Met) c.83C>G c.347C>G n.196C>G c.1980C>G (p.Ile660Met) c.1281C>G (p.Ile427Met)
16	g.3778090G=	CA2202958786	CREBBP	c.2034C= (p.Ile678=) c.1920C= (p.Ile640=) c.639C= (p.Ile213=) c.83C= c.347C= n.196C= c.1980C= (p.Ile660=) c.1281C= (p.Ile427=)
16	g.3778090G>T	CA493276295	CREBBP	c.2034C>A (p.Ile678=) c.1920C>A (p.Ile640=) c.639C>A (p.Ile213=) c.83C>A c.347C>A n.196C>A c.1980C>A (p.Ile660=) c.1281C>A (p.Ile427=)
16	g.3778091A=	CA2202958794	CREBBP	c.2033T= (p.Ile678=) c.1919T= (p.Ile640=) c.638T= (p.Ile213=) c.82T= c.346T= n.195T= c.1979T= (p.Ile660=) c.1280T= (p.Ile427=)
16	g.3778091A>C	CA394554549	CREBBP	c.2033T>G (p.Ile678Ser) c.1919T>G (p.Ile640Ser) c.638T>G (p.Ile213Ser) c.82T>G c.346T>G n.195T>G c.1979T>G (p.Ile660Ser) c.1280T>G (p.Ile427Ser)
16	g.3778091A>G	CA394554551	CREBBP	c.2033T>C (p.Ile678Thr) c.1919T>C (p.Ile640Thr) c.638T>C (p.Ile213Thr) c.82T>C c.346T>C n.195T>C c.1979T>C (p.Ile660Thr) c.1280T>C (p.Ile427Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.3778091A>T	CA394554547	CREBBP	c.2033T>A (p.Ile678Asn) c.1919T>A (p.Ile640Asn) c.638T>A (p.Ile213Asn) c.82T>A c.346T>A n.195T>A c.1979T>A (p.Ile660Asn) c.1280T>A (p.Ile427Asn)	dbSNP gnomAD v3 gnomAD v4
16	g.3778092T>A	CA394554553	CREBBP	c.2032A>T (p.Ile678Phe) c.1918A>T (p.Ile640Phe) c.637A>T (p.Ile213Phe) c.81A>T c.345A>T n.194A>T c.1978A>T (p.Ile660Phe) c.1279A>T (p.Ile427Phe)	dbSNP
16	g.3778092T>C	CA394554555	CREBBP	c.2032A>G (p.Ile678Val) c.1918A>G (p.Ile640Val) c.637A>G (p.Ile213Val) c.81A>G c.345A>G n.194A>G c.1978A>G (p.Ile660Val) c.1279A>G (p.Ile427Val)
16	g.3778092T>G	CA7870295	CREBBP	c.2032A>C (p.Ile678Leu) c.1918A>C (p.Ile640Leu) c.637A>C (p.Ile213Leu) c.81A>C c.345A>C n.194A>C c.1978A>C (p.Ile660Leu) c.1279A>C (p.Ile427Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3778092T=	CA2202958801	CREBBP	c.2032A= (p.Ile678=) c.1918A= (p.Ile640=) c.637A= (p.Ile213=) c.81A= c.345A= n.194A= c.1978A= (p.Ile660=) c.1279A= (p.Ile427=)
16	g.3778092_3778093delinsTG	CA2202958804	CREBBP	c.2031_2032delinsCA (p.Gly677=) c.1917_1918delinsCA (p.Gly639=) c.636_637delinsCA (p.Gly212=) c.80_81delinsCA c.344_345delinsCA n.193_194delinsCA c.1977_1978delinsCA (p.Gly659=) c.1278_1279delinsCA (p.Gly426=)
16	g.3778093del	CA658798530	CREBBP	c.2031del (p.Ile678SerfsTer17) c.1917del (p.Ile640SerfsTer17) c.636del (p.Ile213SerfsTer17) c.80del c.344del n.193del c.1977del (p.Ile660SerfsTer17) c.1278del (p.Ile427SerfsTer17)	ClinVar dbSNP
16	g.3778093G>A	CA493276296	CREBBP	c.2031C>T (p.Gly677=) c.1917C>T (p.Gly639=) c.636C>T (p.Gly212=) c.80C>T c.344C>T n.193C>T c.1977C>T (p.Gly659=) c.1278C>T (p.Gly426=)	ClinVar dbSNP
16	g.3778093G>C	CA493276297	CREBBP	c.2031C>G (p.Gly677=) c.1917C>G (p.Gly639=) c.636C>G (p.Gly212=) c.80C>G c.344C>G n.193C>G c.1977C>G (p.Gly659=) c.1278C>G (p.Gly426=)	dbSNP
16	g.3778093G>T	CA493276298	CREBBP	c.2031C>A (p.Gly677=) c.1917C>A (p.Gly639=) c.636C>A (p.Gly212=) c.80C>A c.344C>A n.193C>A c.1977C>A (p.Gly659=) c.1278C>A (p.Gly426=)	dbSNP
16	g.3778094C>A	CA394554559	CREBBP	c.2030G>T (p.Gly677Val) c.1916G>T (p.Gly639Val) c.635G>T (p.Gly212Val) c.79G>T c.343G>T n.192G>T c.1976G>T (p.Gly659Val) c.1277G>T (p.Gly426Val)	dbSNP gnomAD v4
16	g.3778094C>G	CA394554562	CREBBP	c.2030G>C (p.Gly677Ala) c.1916G>C (p.Gly639Ala) c.635G>C (p.Gly212Ala) c.79G>C c.343G>C n.192G>C c.1976G>C (p.Gly659Ala) c.1277G>C (p.Gly426Ala)	dbSNP
16	g.3778094C>T	CA394554564	CREBBP	c.2030G>A (p.Gly677Asp) c.1916G>A (p.Gly639Asp) c.635G>A (p.Gly212Asp) c.79G>A c.343G>A n.192G>A c.1976G>A (p.Gly659Asp) c.1277G>A (p.Gly426Asp)	dbSNP gnomAD v4
16	g.3778095C>A	CA394554567	CREBBP	c.2029G>T (p.Gly677Cys) c.1915G>T (p.Gly639Cys) c.634G>T (p.Gly212Cys) c.78G>T c.342G>T n.191G>T c.1975G>T (p.Gly659Cys) c.1276G>T (p.Gly426Cys)	dbSNP
16	g.3778095C>G	CA394554568	CREBBP	c.2029G>C (p.Gly677Arg) c.1915G>C (p.Gly639Arg) c.634G>C (p.Gly212Arg) c.78G>C c.342G>C n.191G>C c.1975G>C (p.Gly659Arg) c.1276G>C (p.Gly426Arg)	dbSNP
16	g.3778095C>T	CA394554569	CREBBP	c.2029G>A (p.Gly677Ser) c.1915G>A (p.Gly639Ser) c.634G>A (p.Gly212Ser) c.78G>A c.342G>A n.191G>A c.1975G>A (p.Gly659Ser) c.1276G>A (p.Gly426Ser)	dbSNP
16	g.3778096T>A	CA394554571	CREBBP	c.2028A>T (p.Gln676His) c.1914A>T (p.Gln638His) c.633A>T (p.Gln211His) c.77A>T c.341A>T n.190A>T c.1974A>T (p.Gln658His) c.1275A>T (p.Gln425His)	dbSNP
16	g.3778096T>C	CA10604226	CREBBP	c.2028A>G (p.Gln676=) c.1914A>G (p.Gln638=) c.633A>G (p.Gln211=) c.77A>G c.341A>G n.190A>G c.1974A>G (p.Gln658=) c.1275A>G (p.Gln425=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778096T>G	CA394554574	CREBBP	c.2028A>C (p.Gln676His) c.1914A>C (p.Gln638His) c.633A>C (p.Gln211His) c.77A>C c.341A>C n.190A>C c.1974A>C (p.Gln658His) c.1275A>C (p.Gln425His)
16	g.3778096T=	CA2202958813	CREBBP	c.2028A= (p.Gln676=) c.1914A= (p.Gln638=) c.633A= (p.Gln211=) c.77A= c.341A= n.190A= c.1974A= (p.Gln658=) c.1275A= (p.Gln425=)
16	g.3778097T>A	CA394554578	CREBBP	c.2027A>T (p.Gln676Leu) c.1913A>T (p.Gln638Leu) c.632A>T (p.Gln211Leu) c.76A>T c.340A>T n.189A>T c.1973A>T (p.Gln658Leu) c.1274A>T (p.Gln425Leu)	dbSNP
16	g.3778097T>C	CA394554580	CREBBP	c.2027A>G (p.Gln676Arg) c.1913A>G (p.Gln638Arg) c.632A>G (p.Gln211Arg) c.76A>G c.340A>G n.189A>G c.1973A>G (p.Gln658Arg) c.1274A>G (p.Gln425Arg)
16	g.3778097T>G	CA394554576	CREBBP	c.2027A>C (p.Gln676Pro) c.1913A>C (p.Gln638Pro) c.632A>C (p.Gln211Pro) c.76A>C c.340A>C n.189A>C c.1973A>C (p.Gln658Pro) c.1274A>C (p.Gln425Pro)
16	g.3778097_3778098delinsTG	CA2202958817	CREBBP	c.2026_2027delinsCA (p.Gln676=) c.1912_1913delinsCA (p.Gln638=) c.631_632delinsCA (p.Gln211=) c.75_76delinsCA c.339_340delinsCA n.188_189delinsCA c.1972_1973delinsCA (p.Gln658=) c.1273_1274delinsCA (p.Gln425=)
16	g.3778098del	CA271370	CREBBP	c.2026del (p.Gln676LysfsTer19) c.1912del (p.Gln638LysfsTer19) c.631del (p.Gln211LysfsTer19) c.75del c.339del n.188del c.1972del (p.Gln658LysfsTer19) c.1273del (p.Gln425LysfsTer19)	ClinVar dbSNP
16	g.3778098G>A	CA394554583	CREBBP	c.2026C>T (p.Gln676Ter) c.1912C>T (p.Gln638Ter) c.631C>T (p.Gln211Ter) c.75C>T c.339C>T n.188C>T c.1972C>T (p.Gln658Ter) c.1273C>T (p.Gln425Ter)
16	g.3778098G>C	CA394554585	CREBBP	c.2026C>G (p.Gln676Glu) c.1912C>G (p.Gln638Glu) c.631C>G (p.Gln211Glu) c.75C>G c.339C>G n.188C>G c.1972C>G (p.Gln658Glu) c.1273C>G (p.Gln425Glu)	gnomAD v4
16	g.3778098G>T	CA394554588	CREBBP	c.2026C>A (p.Gln676Lys) c.1912C>A (p.Gln638Lys) c.631C>A (p.Gln211Lys) c.75C>A c.339C>A n.188C>A c.1972C>A (p.Gln658Lys) c.1273C>A (p.Gln425Lys)
16	g.3778099T>A	CA394554590	CREBBP	c.2025A>T (p.Lys675Asn) c.1911A>T (p.Lys637Asn) c.630A>T (p.Lys210Asn) c.74A>T c.338A>T n.187A>T c.1971A>T (p.Lys657Asn) c.1272A>T (p.Lys424Asn)	dbSNP
16	g.3778099T>C	CA493276299	CREBBP	c.2025A>G (p.Lys675=) c.1911A>G (p.Lys637=) c.630A>G (p.Lys210=) c.74A>G c.338A>G n.187A>G c.1971A>G (p.Lys657=) c.1272A>G (p.Lys424=)
16	g.3778099T>G	CA394554592	CREBBP	c.2025A>C (p.Lys675Asn) c.1911A>C (p.Lys637Asn) c.630A>C (p.Lys210Asn) c.74A>C c.338A>C n.187A>C c.1971A>C (p.Lys657Asn) c.1272A>C (p.Lys424Asn)	dbSNP
16	g.3778100T>A	CA394554597	CREBBP	c.2024A>T (p.Lys675Ile) c.1910A>T (p.Lys637Ile) c.629A>T (p.Lys210Ile) c.73A>T c.337A>T n.186A>T c.1970A>T (p.Lys657Ile) c.1271A>T (p.Lys424Ile)	dbSNP
16	g.3778100T>C	CA394554594	CREBBP	c.2024A>G (p.Lys675Arg) c.1910A>G (p.Lys637Arg) c.629A>G (p.Lys210Arg) c.73A>G c.337A>G n.186A>G c.1970A>G (p.Lys657Arg) c.1271A>G (p.Lys424Arg)	dbSNP gnomAD v2 gnomAD v4
16	g.3778100T>G	CA394554596	CREBBP	c.2024A>C (p.Lys675Thr) c.1910A>C (p.Lys637Thr) c.629A>C (p.Lys210Thr) c.73A>C c.337A>C n.186A>C c.1970A>C (p.Lys657Thr) c.1271A>C (p.Lys424Thr)
16	g.3778100T=	CA2202958824	CREBBP	c.2024A= (p.Lys675=) c.1910A= (p.Lys637=) c.629A= (p.Lys210=) c.73A= c.337A= n.186A= c.1970A= (p.Lys657=) c.1271A= (p.Lys424=)
16	g.3778101T>A	CA394554599	CREBBP	c.2023A>T (p.Lys675Ter) c.1909A>T (p.Lys637Ter) c.628A>T (p.Lys210Ter) c.72A>T c.336A>T n.185A>T c.1969A>T (p.Lys657Ter) c.1270A>T (p.Lys424Ter)	dbSNP
16	g.3778101T>C	CA394554601	CREBBP	c.2023A>G (p.Lys675Glu) c.1909A>G (p.Lys637Glu) c.628A>G (p.Lys210Glu) c.72A>G c.336A>G n.185A>G c.1969A>G (p.Lys657Glu) c.1270A>G (p.Lys424Glu)	dbSNP
16	g.3778101T>G	CA394554602	CREBBP	c.2023A>C (p.Lys675Gln) c.1909A>C (p.Lys637Gln) c.628A>C (p.Lys210Gln) c.72A>C c.336A>C n.185A>C c.1969A>C (p.Lys657Gln) c.1270A>C (p.Lys424Gln)
16	g.3778102A=	CA2202958826	CREBBP	c.2022T= (p.His674=) c.1908T= (p.His636=) c.627T= (p.His209=) c.71T= c.335T= n.184T= c.1968T= (p.His656=) c.1269T= (p.His423=)
16	g.3778102A>C	CA394554604	CREBBP	c.2022T>G (p.His674Gln) c.1908T>G (p.His636Gln) c.627T>G (p.His209Gln) c.71T>G c.335T>G n.184T>G c.1968T>G (p.His656Gln) c.1269T>G (p.His423Gln)
16	g.3778102A>G	CA493276300	CREBBP	c.2022T>C (p.His674=) c.1908T>C (p.His636=) c.627T>C (p.His209=) c.71T>C c.335T>C n.184T>C c.1968T>C (p.His656=) c.1269T>C (p.His423=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778102A>T	CA394554606	CREBBP	c.2022T>A (p.His674Gln) c.1908T>A (p.His636Gln) c.627T>A (p.His209Gln) c.71T>A c.335T>A n.184T>A c.1968T>A (p.His656Gln) c.1269T>A (p.His423Gln)	dbSNP
16	g.3778103T>A	CA394554613	CREBBP	c.2021A>T (p.His674Leu) c.1907A>T (p.His636Leu) c.626A>T (p.His209Leu) c.70A>T c.334A>T n.183A>T c.1967A>T (p.His656Leu) c.1268A>T (p.His423Leu)	dbSNP
16	g.3778103T>C	CA394554611	CREBBP	c.2021A>G (p.His674Arg) c.1907A>G (p.His636Arg) c.626A>G (p.His209Arg) c.70A>G c.334A>G n.183A>G c.1967A>G (p.His656Arg) c.1268A>G (p.His423Arg)
16	g.3778103T>G	CA394554609	CREBBP	c.2021A>C (p.His674Pro) c.1907A>C (p.His636Pro) c.626A>C (p.His209Pro) c.70A>C c.334A>C n.183A>C c.1967A>C (p.His656Pro) c.1268A>C (p.His423Pro)
16	g.3778104G>A	CA394554615	CREBBP	c.2020C>T (p.His674Tyr) c.1906C>T (p.His636Tyr) c.625C>T (p.His209Tyr) c.69C>T c.333C>T n.182C>T c.1966C>T (p.His656Tyr) c.1267C>T (p.His423Tyr)	dbSNP
16	g.3778104G>C	CA394554618	CREBBP	c.2020C>G (p.His674Asp) c.1906C>G (p.His636Asp) c.625C>G (p.His209Asp) c.69C>G c.333C>G n.182C>G c.1966C>G (p.His656Asp) c.1267C>G (p.His423Asp)	dbSNP
16	g.3778104G>T	CA394554616	CREBBP	c.2020C>A (p.His674Asn) c.1906C>A (p.His636Asn) c.625C>A (p.His209Asn) c.69C>A c.333C>A n.182C>A c.1966C>A (p.His656Asn) c.1267C>A (p.His423Asn)	dbSNP
16	g.3778105T>A	CA394554620	CREBBP	c.2019A>T (p.Leu673Phe) c.1905A>T (p.Leu635Phe) c.624A>T (p.Leu208Phe) c.68A>T c.332A>T n.181A>T c.1965A>T (p.Leu655Phe) c.1266A>T (p.Leu422Phe)
16	g.3778105T>C	CA493276301	CREBBP	c.2019A>G (p.Leu673=) c.1905A>G (p.Leu635=) c.624A>G (p.Leu208=) c.68A>G c.332A>G n.181A>G c.1965A>G (p.Leu655=) c.1266A>G (p.Leu422=)
16	g.3778105T>G	CA394554622	CREBBP	c.2019A>C (p.Leu673Phe) c.1905A>C (p.Leu635Phe) c.624A>C (p.Leu208Phe) c.68A>C c.332A>C n.181A>C c.1965A>C (p.Leu655Phe) c.1266A>C (p.Leu422Phe)
16	g.3778106A>C	CA394554624	CREBBP	c.2018T>G (p.Leu673Ter) c.1904T>G (p.Leu635Ter) c.623T>G (p.Leu208Ter) c.67T>G c.331T>G n.180T>G c.1964T>G (p.Leu655Ter) c.1265T>G (p.Leu422Ter)
16	g.3778106A>G	CA394554627	CREBBP	c.2018T>C (p.Leu673Ser) c.1904T>C (p.Leu635Ser) c.623T>C (p.Leu208Ser) c.67T>C c.331T>C n.180T>C c.1964T>C (p.Leu655Ser) c.1265T>C (p.Leu422Ser)
16	g.3778106A>T	CA394554625	CREBBP	c.2018T>A (p.Leu673Ter) c.1904T>A (p.Leu635Ter) c.623T>A (p.Leu208Ter) c.67T>A c.331T>A n.180T>A c.1964T>A (p.Leu655Ter) c.1265T>A (p.Leu422Ter)	dbSNP COSMIC
16	g.3778107A>C	CA394554629	CREBBP	c.2017T>G (p.Leu673Val) c.1903T>G (p.Leu635Val) c.622T>G (p.Leu208Val) c.66T>G c.330T>G n.179T>G c.1963T>G (p.Leu655Val) c.1264T>G (p.Leu422Val)	dbSNP
16	g.3778107A>G	CA493276302	CREBBP	c.2017T>C (p.Leu673=) c.1903T>C (p.Leu635=) c.622T>C (p.Leu208=) c.66T>C c.330T>C n.179T>C c.1963T>C (p.Leu655=) c.1264T>C (p.Leu422=)	dbSNP
16	g.3778107A>T	CA394554630	CREBBP	c.2017T>A (p.Leu673Ile) c.1903T>A (p.Leu635Ile) c.622T>A (p.Leu208Ile) c.66T>A c.330T>A n.179T>A c.1963T>A (p.Leu655Ile) c.1264T>A (p.Leu422Ile)	dbSNP
16	g.3778108A>C	CA493276303	CREBBP	c.2016T>G (p.Arg672=) c.1902T>G (p.Arg634=) c.621T>G (p.Arg207=) c.65T>G c.329T>G n.178T>G c.1962T>G (p.Arg654=) c.1263T>G (p.Arg421=)	dbSNP
16	g.3778108A>G	CA493276304	CREBBP	c.2016T>C (p.Arg672=) c.1902T>C (p.Arg634=) c.621T>C (p.Arg207=) c.65T>C c.329T>C n.178T>C c.1962T>C (p.Arg654=) c.1263T>C (p.Arg421=)	dbSNP
16	g.3778108A>T	CA493276305	CREBBP	c.2016T>A (p.Arg672=) c.1902T>A (p.Arg634=) c.621T>A (p.Arg207=) c.65T>A c.329T>A n.178T>A c.1962T>A (p.Arg654=) c.1263T>A (p.Arg421=)	dbSNP
16	g.3778109C>A	CA394554632	CREBBP	c.2015G>T (p.Arg672Leu) c.1901G>T (p.Arg634Leu) c.620G>T (p.Arg207Leu) c.64G>T c.328G>T n.177G>T c.1961G>T (p.Arg654Leu) c.1262G>T (p.Arg421Leu)	dbSNP
16	g.3778109C>G	CA394554633	CREBBP	c.2015G>C (p.Arg672Pro) c.1901G>C (p.Arg634Pro) c.620G>C (p.Arg207Pro) c.64G>C c.328G>C n.177G>C c.1961G>C (p.Arg654Pro) c.1262G>C (p.Arg421Pro)	dbSNP
16	g.3778109C>T	CA394554634	CREBBP	c.2015G>A (p.Arg672His) c.1901G>A (p.Arg634His) c.620G>A (p.Arg207His) c.64G>A c.328G>A n.177G>A c.1961G>A (p.Arg654His) c.1262G>A (p.Arg421His)	dbSNP gnomAD v4 COSMIC
16	g.3778110G>A	CA394554637	CREBBP	c.2014C>T (p.Arg672Cys) c.1900C>T (p.Arg634Cys) c.619C>T (p.Arg207Cys) c.63C>T c.327C>T n.176C>T c.1960C>T (p.Arg654Cys) c.1261C>T (p.Arg421Cys)	ClinVar dbSNP
16	g.3778110G>C	CA394554639	CREBBP	c.2014C>G (p.Arg672Gly) c.1900C>G (p.Arg634Gly) c.619C>G (p.Arg207Gly) c.63C>G c.327C>G n.176C>G c.1960C>G (p.Arg654Gly) c.1261C>G (p.Arg421Gly)	dbSNP
16	g.3778110G>T	CA394554641	CREBBP	c.2014C>A (p.Arg672Ser) c.1900C>A (p.Arg634Ser) c.619C>A (p.Arg207Ser) c.63C>A c.327C>A n.176C>A c.1960C>A (p.Arg654Ser) c.1261C>A (p.Arg421Ser)	dbSNP
16	g.3778111C>A	CA7870297	CREBBP	c.2013G>T (p.Ser671=) c.1899G>T (p.Ser633=) c.618G>T (p.Ser206=) c.62G>T c.326G>T n.175G>T c.1959G>T (p.Ser653=) c.1260G>T (p.Ser420=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778111C=	CA2202958835	CREBBP	c.2013G= (p.Ser671=) c.1899G= (p.Ser633=) c.618G= (p.Ser206=) c.62G= c.326G= n.175G= c.1959G= (p.Ser653=) c.1260G= (p.Ser420=)
16	g.3778111C>G	CA493276306	CREBBP	c.2013G>C (p.Ser671=) c.1899G>C (p.Ser633=) c.618G>C (p.Ser206=) c.62G>C c.326G>C n.175G>C c.1959G>C (p.Ser653=) c.1260G>C (p.Ser420=)	dbSNP
16	g.3778111C>T	CA7870296	CREBBP	c.2013G>A (p.Ser671=) c.1899G>A (p.Ser633=) c.618G>A (p.Ser206=) c.62G>A c.326G>A n.175G>A c.1959G>A (p.Ser653=) c.1260G>A (p.Ser420=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778112G>A	CA394554644	CREBBP	c.2012C>T (p.Ser671Leu) c.1898C>T (p.Ser633Leu) c.617C>T (p.Ser206Leu) c.61C>T c.325C>T n.174C>T c.1958C>T (p.Ser653Leu) c.1259C>T (p.Ser420Leu)	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.3778112G>C	CA394554645	CREBBP	c.2012C>G (p.Ser671Trp) c.1898C>G (p.Ser633Trp) c.617C>G (p.Ser206Trp) c.61C>G c.325C>G n.174C>G c.1958C>G (p.Ser653Trp) c.1259C>G (p.Ser420Trp)	dbSNP
16	g.3778112G=	CA2202958839	CREBBP	c.2012C= (p.Ser671=) c.1898C= (p.Ser633=) c.617C= (p.Ser206=) c.61C= c.325C= n.174C= c.1958C= (p.Ser653=) c.1259C= (p.Ser420=)
16	g.3778112G>T	CA394554647	CREBBP	c.2012C>A (p.Ser671Ter) c.1898C>A (p.Ser633Ter) c.617C>A (p.Ser206Ter) c.61C>A c.325C>A n.174C>A c.1958C>A (p.Ser653Ter) c.1259C>A (p.Ser420Ter)	COSMIC
16	g.3778113A>C	CA394554653	CREBBP	c.2011T>G (p.Ser671Ala) c.1897T>G (p.Ser633Ala) c.616T>G (p.Ser206Ala) c.60T>G c.324T>G n.173T>G c.1957T>G (p.Ser653Ala) c.1258T>G (p.Ser420Ala)	dbSNP
16	g.3778113A>G	CA394554651	CREBBP	c.2011T>C (p.Ser671Pro) c.1897T>C (p.Ser633Pro) c.616T>C (p.Ser206Pro) c.60T>C c.324T>C n.173T>C c.1957T>C (p.Ser653Pro) c.1258T>C (p.Ser420Pro)	dbSNP
16	g.3778113A>T	CA394554649	CREBBP	c.2011T>A (p.Ser671Thr) c.1897T>A (p.Ser633Thr) c.616T>A (p.Ser206Thr) c.60T>A c.324T>A n.173T>A c.1957T>A (p.Ser653Thr) c.1258T>A (p.Ser420Thr)	dbSNP
16	g.3778114C>A	CA394554655	CREBBP	c.2010G>T (p.Arg670Ser) c.1896G>T (p.Arg632Ser) c.615G>T (p.Arg205Ser) c.59G>T c.323G>T n.172G>T c.1956G>T (p.Arg652Ser) c.1257G>T (p.Arg419Ser)	dbSNP
16	g.3778114C>G	CA394554657	CREBBP	c.2010G>C (p.Arg670Ser) c.1896G>C (p.Arg632Ser) c.615G>C (p.Arg205Ser) c.59G>C c.323G>C n.172G>C c.1956G>C (p.Arg652Ser) c.1257G>C (p.Arg419Ser)	dbSNP
16	g.3778114C>T	CA493276310	CREBBP	c.2010G>A (p.Arg670=) c.1896G>A (p.Arg632=) c.615G>A (p.Arg205=) c.59G>A c.323G>A n.172G>A c.1956G>A (p.Arg652=) c.1257G>A (p.Arg419=)	dbSNP
16	g.3778115C>A	CA394554660	CREBBP	c.2009G>T (p.Arg670Met) c.1895G>T (p.Arg632Met) c.614G>T (p.Arg205Met) c.58G>T c.322G>T n.171G>T c.1955G>T (p.Arg652Met) c.1256G>T (p.Arg419Met)	dbSNP
16	g.3778115C>G	CA394554661	CREBBP	c.2009G>C (p.Arg670Thr) c.1895G>C (p.Arg632Thr) c.614G>C (p.Arg205Thr) c.58G>C c.322G>C n.171G>C c.1955G>C (p.Arg652Thr) c.1256G>C (p.Arg419Thr)	dbSNP
16	g.3778115C>T	CA394554663	CREBBP	c.2009G>A (p.Arg670Lys) c.1895G>A (p.Arg632Lys) c.614G>A (p.Arg205Lys) c.58G>A c.322G>A n.171G>A c.1955G>A (p.Arg652Lys) c.1256G>A (p.Arg419Lys)	dbSNP
16	g.3778116T>A	CA394554666	CREBBP	c.2008A>T (p.Arg670Trp) c.1894A>T (p.Arg632Trp) c.613A>T (p.Arg205Trp) c.57A>T c.321A>T n.170A>T c.1954A>T (p.Arg652Trp) c.1255A>T (p.Arg419Trp)
16	g.3778116T>C	CA394554667	CREBBP	c.2008A>G (p.Arg670Gly) c.1894A>G (p.Arg632Gly) c.613A>G (p.Arg205Gly) c.57A>G c.321A>G n.170A>G c.1954A>G (p.Arg652Gly) c.1255A>G (p.Arg419Gly)	dbSNP
16	g.3778116T>G	CA493276313	CREBBP	c.2008A>C (p.Arg670=) c.1894A>C (p.Arg632=) c.613A>C (p.Arg205=) c.57A>C c.321A>C n.170A>C c.1954A>C (p.Arg652=) c.1255A>C (p.Arg419=)
16	g.3778117C>A	CA493276316	CREBBP	c.2007G>T (p.Arg669=) c.1893G>T (p.Arg631=) c.612G>T (p.Arg204=) c.56G>T c.320G>T n.169G>T c.1953G>T (p.Arg651=) c.1254G>T (p.Arg418=)	dbSNP
16	g.3778117C=	CA2202958841	CREBBP	c.2007G= (p.Arg669=) c.1893G= (p.Arg631=) c.612G= (p.Arg204=) c.56G= c.320G= n.169G= c.1953G= (p.Arg651=) c.1254G= (p.Arg418=)
16	g.3778117C>G	CA493276315	CREBBP	c.2007G>C (p.Arg669=) c.1893G>C (p.Arg631=) c.612G>C (p.Arg204=) c.56G>C c.320G>C n.169G>C c.1953G>C (p.Arg651=) c.1254G>C (p.Arg418=)	dbSNP gnomAD v2 gnomAD v4
16	g.3778117C>T	CA493276314	CREBBP	c.2007G>A (p.Arg669=) c.1893G>A (p.Arg631=) c.612G>A (p.Arg204=) c.56G>A c.320G>A n.169G>A c.1953G>A (p.Arg651=) c.1254G>A (p.Arg418=)	dbSNP gnomAD v4
16	g.3778117_3778119delinsCCG	CA2202958843	CREBBP	c.2005_2007delinsCGG (p.Arg669=) c.1891_1893delinsCGG (p.Arg631=) c.610_612delinsCGG (p.Arg204=) c.54_56delinsCGG c.318_320delinsCGG n.167_169delinsCGG c.1951_1953delinsCGG (p.Arg651=) c.1252_1254delinsCGG (p.Arg418=)
16	g.3778118C>A	CA394554669	CREBBP	c.2006G>T (p.Arg669Leu) c.1892G>T (p.Arg631Leu) c.611G>T (p.Arg204Leu) c.55G>T c.319G>T n.168G>T c.1952G>T (p.Arg651Leu) c.1253G>T (p.Arg418Leu)	dbSNP
16	g.3778118C>G	CA394554671	CREBBP	c.2006G>C (p.Arg669Pro) c.1892G>C (p.Arg631Pro) c.611G>C (p.Arg204Pro) c.55G>C c.319G>C n.168G>C c.1952G>C (p.Arg651Pro) c.1253G>C (p.Arg418Pro)	dbSNP
16	g.3778118C>T	CA394554673	CREBBP	c.2006G>A (p.Arg669Gln) c.1892G>A (p.Arg631Gln) c.611G>A (p.Arg204Gln) c.55G>A c.319G>A n.168G>A c.1952G>A (p.Arg651Gln) c.1253G>A (p.Arg418Gln)	dbSNP gnomAD v4
16	g.3778118_3778119delinsA	CA915949098	CREBBP	c.2005_2006delinsT (p.Arg669Ter) c.1891_1892delinsT (p.Arg631Ter) c.610_611delinsT (p.Arg204Ter) c.54_55delinsT c.318_319delinsT n.167_168delinsT c.1951_1952delinsT (p.Arg651Ter) c.1252_1253delinsT (p.Arg418Ter)	ClinVar dbSNP
16	g.3778119G>A	CA394554675	CREBBP	c.2005C>T (p.Arg669Trp) c.1891C>T (p.Arg631Trp) c.610C>T (p.Arg204Trp) c.54C>T c.318C>T n.167C>T c.1951C>T (p.Arg651Trp) c.1252C>T (p.Arg418Trp)	dbSNP
16	g.3778119G>C	CA394554677	CREBBP	c.2005C>G (p.Arg669Gly) c.1891C>G (p.Arg631Gly) c.610C>G (p.Arg204Gly) c.54C>G c.318C>G n.167C>G c.1951C>G (p.Arg651Gly) c.1252C>G (p.Arg418Gly)
16	g.3778119G=	CA2202958850	CREBBP	c.2005C= (p.Arg669=) c.1891C= (p.Arg631=) c.610C= (p.Arg204=) c.54C= c.318C= n.167C= c.1951C= (p.Arg651=) c.1252C= (p.Arg418=)
16	g.3778119G>T	CA493276317	CREBBP	c.2005C>A (p.Arg669=) c.1891C>A (p.Arg631=) c.610C>A (p.Arg204=) c.54C>A c.318C>A n.167C>A c.1951C>A (p.Arg651=) c.1252C>A (p.Arg418=)
16	g.3778120T>A	CA394554679	CREBBP	c.2004A>T (p.Lys668Asn) c.1890A>T (p.Lys630Asn) c.609A>T (p.Lys203Asn) c.53A>T c.317A>T n.166A>T c.1950A>T (p.Lys650Asn) c.1251A>T (p.Lys417Asn)	dbSNP
16	g.3778120T>C	CA493276318	CREBBP	c.2004A>G (p.Lys668=) c.1890A>G (p.Lys630=) c.609A>G (p.Lys203=) c.53A>G c.317A>G n.166A>G c.1950A>G (p.Lys650=) c.1251A>G (p.Lys417=)	dbSNP
16	g.3778120T>G	CA394554681	CREBBP	c.2004A>C (p.Lys668Asn) c.1890A>C (p.Lys630Asn) c.609A>C (p.Lys203Asn) c.53A>C c.317A>C n.166A>C c.1950A>C (p.Lys650Asn) c.1251A>C (p.Lys417Asn)	dbSNP
16	g.3778124del	CA645596798	CREBBP	c.2004del (p.Lys668AsnfsTer27) c.1890del (p.Lys630AsnfsTer27) c.609del (p.Lys203AsnfsTer27) c.53del c.317del n.166del c.1950del (p.Lys650AsnfsTer27) c.1251del (p.Lys417AsnfsTer27)	dbSNP COSMIC
16	g.3778121T>A	CA394554683	CREBBP	c.2003A>T (p.Lys668Ile) c.1889A>T (p.Lys630Ile) c.608A>T (p.Lys203Ile) c.52A>T c.316A>T n.165A>T c.1949A>T (p.Lys650Ile) c.1250A>T (p.Lys417Ile)	dbSNP
16	g.3778121T>C	CA394554685	CREBBP	c.2003A>G (p.Lys668Arg) c.1889A>G (p.Lys630Arg) c.608A>G (p.Lys203Arg) c.52A>G c.316A>G n.165A>G c.1949A>G (p.Lys650Arg) c.1250A>G (p.Lys417Arg)
16	g.3778121T>G	CA394554687	CREBBP	c.2003A>C (p.Lys668Thr) c.1889A>C (p.Lys630Thr) c.608A>C (p.Lys203Thr) c.52A>C c.316A>C n.165A>C c.1949A>C (p.Lys650Thr) c.1250A>C (p.Lys417Thr)	dbSNP
16	g.3778122T>A	CA394554690	CREBBP	c.2002A>T (p.Lys668Ter) c.1888A>T (p.Lys630Ter) c.607A>T (p.Lys203Ter) c.51A>T c.315A>T n.164A>T c.1948A>T (p.Lys650Ter) c.1249A>T (p.Lys417Ter)	dbSNP
16	g.3778122T>C	CA394554692	CREBBP	c.2002A>G (p.Lys668Glu) c.1888A>G (p.Lys630Glu) c.607A>G (p.Lys203Glu) c.51A>G c.315A>G n.164A>G c.1948A>G (p.Lys650Glu) c.1249A>G (p.Lys417Glu)
16	g.3778122T>G	CA394554693	CREBBP	c.2002A>C (p.Lys668Gln) c.1888A>C (p.Lys630Gln) c.607A>C (p.Lys203Gln) c.51A>C c.315A>C n.164A>C c.1948A>C (p.Lys650Gln) c.1249A>C (p.Lys417Gln)
16	g.3778123T>A	CA394554695	CREBBP	c.2001A>T (p.Glu667Asp) c.1887A>T (p.Glu629Asp) c.606A>T (p.Glu202Asp) c.50A>T c.314A>T n.163A>T c.1947A>T (p.Glu649Asp) c.1248A>T (p.Glu416Asp)	dbSNP
16	g.3778123T>C	CA493276319	CREBBP	c.2001A>G (p.Glu667=) c.1887A>G (p.Glu629=) c.606A>G (p.Glu202=) c.50A>G c.314A>G n.163A>G c.1947A>G (p.Glu649=) c.1248A>G (p.Glu416=)
16	g.3778123T>G	CA394554696	CREBBP	c.2001A>C (p.Glu667Asp) c.1887A>C (p.Glu629Asp) c.606A>C (p.Glu202Asp) c.50A>C c.314A>C n.163A>C c.1947A>C (p.Glu649Asp) c.1248A>C (p.Glu416Asp)
16	g.3778124T>A	CA394554698	CREBBP	c.2000A>T (p.Glu667Val) c.1886A>T (p.Glu629Val) c.605A>T (p.Glu202Val) c.49A>T c.313A>T n.162A>T c.1946A>T (p.Glu649Val) c.1247A>T (p.Glu416Val)
16	g.3778124T>C	CA394554699	CREBBP	c.2000A>G (p.Glu667Gly) c.1886A>G (p.Glu629Gly) c.605A>G (p.Glu202Gly) c.49A>G c.313A>G n.162A>G c.1946A>G (p.Glu649Gly) c.1247A>G (p.Glu416Gly)	dbSNP gnomAD v3 gnomAD v4
16	g.3778124T>G	CA394554701	CREBBP	c.2000A>C (p.Glu667Ala) c.1886A>C (p.Glu629Ala) c.605A>C (p.Glu202Ala) c.49A>C c.313A>C n.162A>C c.1946A>C (p.Glu649Ala) c.1247A>C (p.Glu416Ala)
16	g.3778124T=	CA2202958853	CREBBP	c.2000A= (p.Glu667=) c.1886A= (p.Glu629=) c.605A= (p.Glu202=) c.49A= c.313A= n.162A= c.1946A= (p.Glu649=) c.1247A= (p.Glu416=)
16	g.3778125C>A	CA394554707	CREBBP	c.1999G>T (p.Glu667Ter) c.1885G>T (p.Glu629Ter) c.604G>T (p.Glu202Ter) c.48G>T c.312G>T n.161G>T c.1945G>T (p.Glu649Ter) c.1246G>T (p.Glu416Ter)
16	g.3778125C>G	CA394554706	CREBBP	c.1999G>C (p.Glu667Gln) c.1885G>C (p.Glu629Gln) c.604G>C (p.Glu202Gln) c.48G>C c.312G>C n.161G>C c.1945G>C (p.Glu649Gln) c.1246G>C (p.Glu416Gln)	dbSNP
16	g.3778125C>T	CA394554703	CREBBP	c.1999G>A (p.Glu667Lys) c.1885G>A (p.Glu629Lys) c.604G>A (p.Glu202Lys) c.48G>A c.312G>A n.161G>A c.1945G>A (p.Glu649Lys) c.1246G>A (p.Glu416Lys)	dbSNP
16	g.3778126T>A	CA394554709	CREBBP	c.1998A>T (p.Glu666Asp) c.1884A>T (p.Glu628Asp) c.603A>T (p.Glu201Asp) c.47A>T c.311A>T n.160A>T c.1944A>T (p.Glu648Asp) c.1245A>T (p.Glu415Asp)	dbSNP
16	g.3778126T>C	CA493276320	CREBBP	c.1998A>G (p.Glu666=) c.1884A>G (p.Glu628=) c.603A>G (p.Glu201=) c.47A>G c.311A>G n.160A>G c.1944A>G (p.Glu648=) c.1245A>G (p.Glu415=)	dbSNP
16	g.3778126T>G	CA394554711	CREBBP	c.1998A>C (p.Glu666Asp) c.1884A>C (p.Glu628Asp) c.603A>C (p.Glu201Asp) c.47A>C c.311A>C n.160A>C c.1944A>C (p.Glu648Asp) c.1245A>C (p.Glu415Asp)
16	g.3778127T>A	CA394554719	CREBBP	c.1997A>T (p.Glu666Val) c.1883A>T (p.Glu628Val) c.602A>T (p.Glu201Val) c.46A>T c.310A>T n.159A>T c.1943A>T (p.Glu648Val) c.1244A>T (p.Glu415Val)	dbSNP
16	g.3778127T>C	CA394554722	CREBBP	c.1997A>G (p.Glu666Gly) c.1883A>G (p.Glu628Gly) c.602A>G (p.Glu201Gly) c.46A>G c.310A>G n.159A>G c.1943A>G (p.Glu648Gly) c.1244A>G (p.Glu415Gly)
16	g.3778127T>G	CA394554724	CREBBP	c.1997A>C (p.Glu666Ala) c.1883A>C (p.Glu628Ala) c.602A>C (p.Glu201Ala) c.46A>C c.310A>C n.159A>C c.1943A>C (p.Glu648Ala) c.1244A>C (p.Glu415Ala)
16	g.3778128C>A	CA394554727	CREBBP	c.1996G>T (p.Glu666Ter) c.1882G>T (p.Glu628Ter) c.601G>T (p.Glu201Ter) c.45G>T c.309G>T n.158G>T c.1942G>T (p.Glu648Ter) c.1243G>T (p.Glu415Ter)	dbSNP
16	g.3778128C>G	CA394554729	CREBBP	c.1996G>C (p.Glu666Gln) c.1882G>C (p.Glu628Gln) c.601G>C (p.Glu201Gln) c.45G>C c.309G>C n.158G>C c.1942G>C (p.Glu648Gln) c.1243G>C (p.Glu415Gln)	dbSNP COSMIC
16	g.3778128C>T	CA394554730	CREBBP	c.1996G>A (p.Glu666Lys) c.1882G>A (p.Glu628Lys) c.601G>A (p.Glu201Lys) c.45G>A c.309G>A n.158G>A c.1942G>A (p.Glu648Lys) c.1243G>A (p.Glu415Lys)	dbSNP
16	g.3778129T>A	CA493276321	CREBBP	c.1995A>T (p.Leu665=) c.1881A>T (p.Leu627=) c.600A>T (p.Leu200=) c.44A>T c.308A>T n.157A>T c.1941A>T (p.Leu647=) c.1242A>T (p.Leu414=)	dbSNP
16	g.3778129T>C	CA276973518	CREBBP	c.1995A>G (p.Leu665=) c.1881A>G (p.Leu627=) c.600A>G (p.Leu200=) c.44A>G c.308A>G n.157A>G c.1941A>G (p.Leu647=) c.1242A>G (p.Leu414=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778129T>G	CA493276322	CREBBP	c.1995A>C (p.Leu665=) c.1881A>C (p.Leu627=) c.600A>C (p.Leu200=) c.44A>C c.308A>C n.157A>C c.1941A>C (p.Leu647=) c.1242A>C (p.Leu414=)
16	g.3778129T=	CA2202958856	CREBBP	c.1995A= (p.Leu665=) c.1881A= (p.Leu627=) c.600A= (p.Leu200=) c.44A= c.308A= n.157A= c.1941A= (p.Leu647=) c.1242A= (p.Leu414=)
16	g.3778130A>C	CA394554732	CREBBP	c.1994T>G (p.Leu665Arg) c.1880T>G (p.Leu627Arg) c.599T>G (p.Leu200Arg) c.43T>G c.307T>G n.156T>G c.1940T>G (p.Leu647Arg) c.1241T>G (p.Leu414Arg)
16	g.3778130A>G	CA394554734	CREBBP	c.1994T>C (p.Leu665Pro) c.1880T>C (p.Leu627Pro) c.599T>C (p.Leu200Pro) c.43T>C c.307T>C n.156T>C c.1940T>C (p.Leu647Pro) c.1241T>C (p.Leu414Pro)
16	g.3778130A>T	CA394554735	CREBBP	c.1994T>A (p.Leu665Gln) c.1880T>A (p.Leu627Gln) c.599T>A (p.Leu200Gln) c.43T>A c.307T>A n.156T>A c.1940T>A (p.Leu647Gln) c.1241T>A (p.Leu414Gln)	dbSNP
16	g.3778131G>A	CA276973522	CREBBP	c.1993C>T (p.Leu665=) c.1879C>T (p.Leu627=) c.598C>T (p.Leu200=) c.42C>T c.306C>T n.155C>T c.1939C>T (p.Leu647=) c.1240C>T (p.Leu414=)	ClinVar dbSNP gnomAD v4
16	g.3778131G>C	CA394554737	CREBBP	c.1993C>G (p.Leu665Val) c.1879C>G (p.Leu627Val) c.598C>G (p.Leu200Val) c.42C>G c.306C>G n.155C>G c.1939C>G (p.Leu647Val) c.1240C>G (p.Leu414Val)	dbSNP
16	g.3778131G=	CA2202958858	CREBBP	c.1993C= (p.Leu665=) c.1879C= (p.Leu627=) c.598C= (p.Leu200=) c.42C= c.306C= n.155C= c.1939C= (p.Leu647=) c.1240C= (p.Leu414=)
16	g.3778131G>T	CA394554739	CREBBP	c.1993C>A (p.Leu665Ile) c.1879C>A (p.Leu627Ile) c.598C>A (p.Leu200Ile) c.42C>A c.306C>A n.155C>A c.1939C>A (p.Leu647Ile) c.1240C>A (p.Leu414Ile)	dbSNP
16	g.3778132T>A	CA394554743	CREBBP	c.1992A>T (p.Glu664Asp) c.1878A>T (p.Glu626Asp) c.597A>T (p.Glu199Asp) c.41A>T c.305A>T n.154A>T c.1938A>T (p.Glu646Asp) c.1239A>T (p.Glu413Asp)	dbSNP
16	g.3778132T>C	CA493276323	CREBBP	c.1992A>G (p.Glu664=) c.1878A>G (p.Glu626=) c.597A>G (p.Glu199=) c.41A>G c.305A>G n.154A>G c.1938A>G (p.Glu646=) c.1239A>G (p.Glu413=)	dbSNP
16	g.3778132T>G	CA394554741	CREBBP	c.1992A>C (p.Glu664Asp) c.1878A>C (p.Glu626Asp) c.597A>C (p.Glu199Asp) c.41A>C c.305A>C n.154A>C c.1938A>C (p.Glu646Asp) c.1239A>C (p.Glu413Asp)
16	g.3778133T>A	CA394554746	CREBBP	c.1991A>T (p.Glu664Val) c.1877A>T (p.Glu626Val) c.596A>T (p.Glu199Val) c.40A>T c.304A>T n.153A>T c.1937A>T (p.Glu646Val) c.1238A>T (p.Glu413Val)	dbSNP
16	g.3778133T>C	CA394554749	CREBBP	c.1991A>G (p.Glu664Gly) c.1877A>G (p.Glu626Gly) c.596A>G (p.Glu199Gly) c.40A>G c.304A>G n.153A>G c.1937A>G (p.Glu646Gly) c.1238A>G (p.Glu413Gly)
16	g.3778133T>G	CA394554747	CREBBP	c.1991A>C (p.Glu664Ala) c.1877A>C (p.Glu626Ala) c.596A>C (p.Glu199Ala) c.40A>C c.304A>C n.153A>C c.1937A>C (p.Glu646Ala) c.1238A>C (p.Glu413Ala)
16	g.3778134C>A	CA394554751	CREBBP	c.1990G>T (p.Glu664Ter) c.1876G>T (p.Glu626Ter) c.595G>T (p.Glu199Ter) c.39G>T c.303G>T n.152G>T c.1936G>T (p.Glu646Ter) c.1237G>T (p.Glu413Ter)	COSMIC
16	g.3778134C=	CA2202958860	CREBBP	c.1990G= (p.Glu664=) c.1876G= (p.Glu626=) c.595G= (p.Glu199=) c.39G= c.303G= n.152G= c.1936G= (p.Glu646=) c.1237G= (p.Glu413=)
16	g.3778134C>G	CA394554753	CREBBP	c.1990G>C (p.Glu664Gln) c.1876G>C (p.Glu626Gln) c.595G>C (p.Glu199Gln) c.39G>C c.303G>C n.152G>C c.1936G>C (p.Glu646Gln) c.1237G>C (p.Glu413Gln)
16	g.3778134C>T	CA394554755	CREBBP	c.1990G>A (p.Glu664Lys) c.1876G>A (p.Glu626Lys) c.595G>A (p.Glu199Lys) c.39G>A c.303G>A n.152G>A c.1936G>A (p.Glu646Lys) c.1237G>A (p.Glu413Lys)	dbSNP
16	g.3778135T>A	CA394554758	CREBBP	c.1989A>T (p.Lys663Asn) c.1875A>T (p.Lys625Asn) c.594A>T (p.Lys198Asn) c.38A>T c.302A>T n.151A>T c.1935A>T (p.Lys645Asn) c.1236A>T (p.Lys412Asn)	dbSNP
16	g.3778135T>C	CA493276324	CREBBP	c.1989A>G (p.Lys663=) c.1875A>G (p.Lys625=) c.594A>G (p.Lys198=) c.38A>G c.302A>G n.151A>G c.1935A>G (p.Lys645=) c.1236A>G (p.Lys412=)	dbSNP
16	g.3778135T>G	CA394554760	CREBBP	c.1989A>C (p.Lys663Asn) c.1875A>C (p.Lys625Asn) c.594A>C (p.Lys198Asn) c.38A>C c.302A>C n.151A>C c.1935A>C (p.Lys645Asn) c.1236A>C (p.Lys412Asn)
16	g.3778136T>A	CA394554762	CREBBP	c.1988A>T (p.Lys663Ile) c.1874A>T (p.Lys625Ile) c.593A>T (p.Lys198Ile) c.37A>T c.301A>T n.150A>T c.1934A>T (p.Lys645Ile) c.1235A>T (p.Lys412Ile)	dbSNP
16	g.3778136T>C	CA394554763	CREBBP	c.1988A>G (p.Lys663Arg) c.1874A>G (p.Lys625Arg) c.593A>G (p.Lys198Arg) c.37A>G c.301A>G n.150A>G c.1934A>G (p.Lys645Arg) c.1235A>G (p.Lys412Arg)
16	g.3778136T>G	CA394554764	CREBBP	c.1988A>C (p.Lys663Thr) c.1874A>C (p.Lys625Thr) c.593A>C (p.Lys198Thr) c.37A>C c.301A>C n.150A>C c.1934A>C (p.Lys645Thr) c.1235A>C (p.Lys412Thr)
16	g.3778137T>A	CA394554767	CREBBP	c.1987A>T (p.Lys663Ter) c.1873A>T (p.Lys625Ter) c.592A>T (p.Lys198Ter) c.36A>T c.300A>T n.149A>T c.1933A>T (p.Lys645Ter) c.1234A>T (p.Lys412Ter)
16	g.3778137T>C	CA394554769	CREBBP	c.1987A>G (p.Lys663Glu) c.1873A>G (p.Lys625Glu) c.592A>G (p.Lys198Glu) c.36A>G c.300A>G n.149A>G c.1933A>G (p.Lys645Glu) c.1234A>G (p.Lys412Glu)
16	g.3778137T>G	CA394554770	CREBBP	c.1987A>C (p.Lys663Gln) c.1873A>C (p.Lys625Gln) c.592A>C (p.Lys198Gln) c.36A>C c.300A>C n.149A>C c.1933A>C (p.Lys645Gln) c.1234A>C (p.Lys412Gln)
16	g.3778138T>A	CA394554773	CREBBP	c.1986A>T (p.Gln662His) c.1872A>T (p.Gln624His) c.591A>T (p.Gln197His) c.35A>T c.299A>T n.148A>T c.1932A>T (p.Gln644His) c.1233A>T (p.Gln411His)
16	g.3778138T>C	CA493276325	CREBBP	c.1986A>G (p.Gln662=) c.1872A>G (p.Gln624=) c.591A>G (p.Gln197=) c.35A>G c.299A>G n.148A>G c.1932A>G (p.Gln644=) c.1233A>G (p.Gln411=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.3778138T>G	CA394554775	CREBBP	c.1986A>C (p.Gln662His) c.1872A>C (p.Gln624His) c.591A>C (p.Gln197His) c.35A>C c.299A>C n.148A>C c.1932A>C (p.Gln644His) c.1233A>C (p.Gln411His)
16	g.3778138T=	CA2202958862	CREBBP	c.1986A= (p.Gln662=) c.1872A= (p.Gln624=) c.591A= (p.Gln197=) c.35A= c.299A= n.148A= c.1932A= (p.Gln644=) c.1233A= (p.Gln411=)
16	g.3778139T>A	CA394554776	CREBBP	c.1985A>T (p.Gln662Leu) c.1871A>T (p.Gln624Leu) c.590A>T (p.Gln197Leu) c.34A>T c.298A>T n.147A>T c.1931A>T (p.Gln644Leu) c.1232A>T (p.Gln411Leu)
16	g.3778139T>C	CA394554778	CREBBP	c.1985A>G (p.Gln662Arg) c.1871A>G (p.Gln624Arg) c.590A>G (p.Gln197Arg) c.34A>G c.298A>G n.147A>G c.1931A>G (p.Gln644Arg) c.1232A>G (p.Gln411Arg)
16	g.3778139T>G	CA394554777	CREBBP	c.1985A>C (p.Gln662Pro) c.1871A>C (p.Gln624Pro) c.590A>C (p.Gln197Pro) c.34A>C c.298A>C n.147A>C c.1931A>C (p.Gln644Pro) c.1232A>C (p.Gln411Pro)
16	g.3778140G>A	CA394554780	CREBBP	c.1984C>T (p.Gln662Ter) c.1870C>T (p.Gln624Ter) c.589C>T (p.Gln197Ter) c.33C>T c.297C>T n.146C>T c.1930C>T (p.Gln644Ter) c.1231C>T (p.Gln411Ter)	dbSNP
16	g.3778140G>C	CA394554781	CREBBP	c.1984C>G (p.Gln662Glu) c.1870C>G (p.Gln624Glu) c.589C>G (p.Gln197Glu) c.33C>G c.297C>G n.146C>G c.1930C>G (p.Gln644Glu) c.1231C>G (p.Gln411Glu)	dbSNP
16	g.3778140G>T	CA394554782	CREBBP	c.1984C>A (p.Gln662Lys) c.1870C>A (p.Gln624Lys) c.589C>A (p.Gln197Lys) c.33C>A c.297C>A n.146C>A c.1930C>A (p.Gln644Lys) c.1231C>A (p.Gln411Lys)	ClinVar dbSNP
16	g.3778141T>A	CA493276326	CREBBP	c.1983A>T (p.Ile661=) c.1869A>T (p.Ile623=) c.588A>T (p.Ile196=) c.32A>T c.296A>T n.145A>T c.1929A>T (p.Ile643=) c.1230A>T (p.Ile410=)	dbSNP
16	g.3778141T>C	CA394554784	CREBBP	c.1983A>G (p.Ile661Met) c.1869A>G (p.Ile623Met) c.588A>G (p.Ile196Met) c.32A>G c.296A>G n.145A>G c.1929A>G (p.Ile643Met) c.1230A>G (p.Ile410Met)	dbSNP
16	g.3778141T>G	CA493276327	CREBBP	c.1983A>C (p.Ile661=) c.1869A>C (p.Ile623=) c.588A>C (p.Ile196=) c.32A>C c.296A>C n.145A>C c.1929A>C (p.Ile643=) c.1230A>C (p.Ile410=)
16	g.3778142A>C	CA394554786	CREBBP	c.1982T>G (p.Ile661Arg) c.1868T>G (p.Ile623Arg) c.587T>G (p.Ile196Arg) c.31T>G c.295T>G n.144T>G c.1928T>G (p.Ile643Arg) c.1229T>G (p.Ile410Arg)	dbSNP
16	g.3778142A>G	CA394554787	CREBBP	c.1982T>C (p.Ile661Thr) c.1868T>C (p.Ile623Thr) c.587T>C (p.Ile196Thr) c.31T>C c.295T>C n.144T>C c.1928T>C (p.Ile643Thr) c.1229T>C (p.Ile410Thr)	dbSNP
16	g.3778142A>T	CA394554789	CREBBP	c.1982T>A (p.Ile661Lys) c.1868T>A (p.Ile623Lys) c.587T>A (p.Ile196Lys) c.31T>A c.295T>A n.144T>A c.1928T>A (p.Ile643Lys) c.1229T>A (p.Ile410Lys)	dbSNP
16	g.3778143T>A	CA394554792	CREBBP	c.1981A>T (p.Ile661Leu) c.1867A>T (p.Ile623Leu) c.586A>T (p.Ile196Leu) c.30A>T c.294A>T n.143A>T c.1927A>T (p.Ile643Leu) c.1228A>T (p.Ile410Leu)
16	g.3778143T>C	CA276973531	CREBBP	c.1981A>G (p.Ile661Val) c.1867A>G (p.Ile623Val) c.586A>G (p.Ile196Val) c.30A>G c.294A>G n.143A>G c.1927A>G (p.Ile643Val) c.1228A>G (p.Ile410Val)	dbSNP
16	g.3778143T>G	CA394554796	CREBBP	c.1981A>C (p.Ile661Leu) c.1867A>C (p.Ile623Leu) c.586A>C (p.Ile196Leu) c.30A>C c.294A>C n.143A>C c.1927A>C (p.Ile643Leu) c.1228A>C (p.Ile410Leu)
16	g.3778143T=	CA2202958864	CREBBP	c.1981A= (p.Ile661=) c.1867A= (p.Ile623=) c.586A= (p.Ile196=) c.30A= c.294A= n.143A= c.1927A= (p.Ile643=) c.1228A= (p.Ile410=)
16	g.3778144C>A	CA394554799	CREBBP	c.1980G>T (p.Lys660Asn) c.1866G>T (p.Lys622Asn) c.585G>T (p.Lys195Asn) c.29G>T c.293G>T n.142G>T c.1926G>T (p.Lys642Asn) c.1227G>T (p.Lys409Asn)
16	g.3778144C>G	CA394554797	CREBBP	c.1980G>C (p.Lys660Asn) c.1866G>C (p.Lys622Asn) c.585G>C (p.Lys195Asn) c.29G>C c.293G>C n.142G>C c.1926G>C (p.Lys642Asn) c.1227G>C (p.Lys409Asn)	dbSNP
16	g.3778144C>T	CA493276328	CREBBP	c.1980G>A (p.Lys660=) c.1866G>A (p.Lys622=) c.585G>A (p.Lys195=) c.29G>A c.293G>A n.142G>A c.1926G>A (p.Lys642=) c.1227G>A (p.Lys409=)	dbSNP
16	g.3778145T>A	CA394554801	CREBBP	c.1979A>T (p.Lys660Met) c.1865A>T (p.Lys622Met) c.584A>T (p.Lys195Met) c.28A>T c.292A>T n.141A>T c.1925A>T (p.Lys642Met) c.1226A>T (p.Lys409Met)	dbSNP
16	g.3778145T>C	CA394554803	CREBBP	c.1979A>G (p.Lys660Arg) c.1865A>G (p.Lys622Arg) c.584A>G (p.Lys195Arg) c.28A>G c.292A>G n.141A>G c.1925A>G (p.Lys642Arg) c.1226A>G (p.Lys409Arg)
16	g.3778145T>G	CA394554805	CREBBP	c.1979A>C (p.Lys660Thr) c.1865A>C (p.Lys622Thr) c.584A>C (p.Lys195Thr) c.28A>C c.292A>C n.141A>C c.1925A>C (p.Lys642Thr) c.1226A>C (p.Lys409Thr)
16	g.3778146T>A	CA394554807	CREBBP	c.1978A>T (p.Lys660Ter) c.1864A>T (p.Lys622Ter) c.583A>T (p.Lys195Ter) c.27A>T c.291A>T n.140A>T c.1924A>T (p.Lys642Ter) c.1225A>T (p.Lys409Ter)	dbSNP
16	g.3778146T>C	CA394554809	CREBBP	c.1978A>G (p.Lys660Glu) c.1864A>G (p.Lys622Glu) c.583A>G (p.Lys195Glu) c.27A>G c.291A>G n.140A>G c.1924A>G (p.Lys642Glu) c.1225A>G (p.Lys409Glu)
16	g.3778146T>G	CA394554811	CREBBP	c.1978A>C (p.Lys660Gln) c.1864A>C (p.Lys622Gln) c.583A>C (p.Lys195Gln) c.27A>C c.291A>C n.140A>C c.1924A>C (p.Lys642Gln) c.1225A>C (p.Lys409Gln)
16	g.3778147G>A	CA493276329	CREBBP	c.1977C>T (p.Tyr659=) c.1863C>T (p.Tyr621=) c.582C>T (p.Tyr194=) c.26C>T c.290C>T n.139C>T c.1923C>T (p.Tyr641=) c.1224C>T (p.Tyr408=)	gnomAD v4
16	g.3778147G>C	CA394554814	CREBBP	c.1977C>G (p.Tyr659Ter) c.1863C>G (p.Tyr621Ter) c.582C>G (p.Tyr194Ter) c.26C>G c.290C>G n.139C>G c.1923C>G (p.Tyr641Ter) c.1224C>G (p.Tyr408Ter)	dbSNP
16	g.3778147G=	CA2202958868	CREBBP	c.1977C= (p.Tyr659=) c.1863C= (p.Tyr621=) c.582C= (p.Tyr194=) c.26C= c.290C= n.139C= c.1923C= (p.Tyr641=) c.1224C= (p.Tyr408=)
16	g.3778147G>T	CA394554816	CREBBP	c.1977C>A (p.Tyr659Ter) c.1863C>A (p.Tyr621Ter) c.582C>A (p.Tyr194Ter) c.26C>A c.290C>A n.139C>A c.1923C>A (p.Tyr641Ter) c.1224C>A (p.Tyr408Ter)	ClinVar dbSNP
16	g.3778148T>A	CA394554818	CREBBP	c.1976A>T (p.Tyr659Phe) c.1862A>T (p.Tyr621Phe) c.581A>T (p.Tyr194Phe) c.25A>T c.289A>T n.138A>T c.1922A>T (p.Tyr641Phe) c.1223A>T (p.Tyr408Phe)	dbSNP
16	g.3778148T>C	CA394554820	CREBBP	c.1976A>G (p.Tyr659Cys) c.1862A>G (p.Tyr621Cys) c.581A>G (p.Tyr194Cys) c.25A>G c.289A>G n.138A>G c.1922A>G (p.Tyr641Cys) c.1223A>G (p.Tyr408Cys)
16	g.3778148T>G	CA394554822	CREBBP	c.1976A>C (p.Tyr659Ser) c.1862A>C (p.Tyr621Ser) c.581A>C (p.Tyr194Ser) c.25A>C c.289A>C n.138A>C c.1922A>C (p.Tyr641Ser) c.1223A>C (p.Tyr408Ser)
16	g.3778149A>C	CA394554825	CREBBP	c.1975T>G (p.Tyr659Asp) c.1861T>G (p.Tyr621Asp) c.580T>G (p.Tyr194Asp) c.24T>G c.288T>G n.137T>G c.1921T>G (p.Tyr641Asp) c.1222T>G (p.Tyr408Asp)
16	g.3778149A>G	CA394554827	CREBBP	c.1975T>C (p.Tyr659His) c.1861T>C (p.Tyr621His) c.580T>C (p.Tyr194His) c.24T>C c.288T>C n.137T>C c.1921T>C (p.Tyr641His) c.1222T>C (p.Tyr408His)
16	g.3778149A>T	CA394554829	CREBBP	c.1975T>A (p.Tyr659Asn) c.1861T>A (p.Tyr621Asn) c.580T>A (p.Tyr194Asn) c.24T>A c.288T>A n.137T>A c.1921T>A (p.Tyr641Asn) c.1222T>A (p.Tyr408Asn)	dbSNP
16	g.3778150G>A	CA493276330	CREBBP	c.1974C>T (p.Ile658=) c.1860C>T (p.Ile620=) c.579C>T (p.Ile193=) c.23C>T c.287C>T n.136C>T c.1920C>T (p.Ile640=) c.1221C>T (p.Ile407=)	dbSNP
16	g.3778150G>C	CA394554832	CREBBP	c.1974C>G (p.Ile658Met) c.1860C>G (p.Ile620Met) c.579C>G (p.Ile193Met) c.23C>G c.287C>G n.136C>G c.1920C>G (p.Ile640Met) c.1221C>G (p.Ile407Met)	dbSNP
16	g.3778150G>T	CA493276331	CREBBP	c.1974C>A (p.Ile658=) c.1860C>A (p.Ile620=) c.579C>A (p.Ile193=) c.23C>A c.287C>A n.136C>A c.1920C>A (p.Ile640=) c.1221C>A (p.Ile407=)	gnomAD v4
16	g.3778151A>C	CA394554834	CREBBP	c.1973T>G (p.Ile658Ser) c.1859T>G (p.Ile620Ser) c.578T>G (p.Ile193Ser) c.22T>G c.286T>G n.135T>G c.1919T>G (p.Ile640Ser) c.1220T>G (p.Ile407Ser)	dbSNP
16	g.3778151A>G	CA394554835	CREBBP	c.1973T>C (p.Ile658Thr) c.1859T>C (p.Ile620Thr) c.578T>C (p.Ile193Thr) c.22T>C c.286T>C n.135T>C c.1919T>C (p.Ile640Thr) c.1220T>C (p.Ile407Thr)
16	g.3778151A>T	CA394554838	CREBBP	c.1973T>A (p.Ile658Asn) c.1859T>A (p.Ile620Asn) c.578T>A (p.Ile193Asn) c.22T>A c.286T>A n.135T>A c.1919T>A (p.Ile640Asn) c.1220T>A (p.Ile407Asn)	dbSNP
16	g.3778152T>A	CA394554842	CREBBP	c.1972A>T (p.Ile658Phe) c.1858A>T (p.Ile620Phe) c.577A>T (p.Ile193Phe) c.21A>T c.285A>T n.134A>T c.1918A>T (p.Ile640Phe) c.1219A>T (p.Ile407Phe)	dbSNP
16	g.3778152T>C	CA394554843	CREBBP	c.1972A>G (p.Ile658Val) c.1858A>G (p.Ile620Val) c.577A>G (p.Ile193Val) c.21A>G c.285A>G n.134A>G c.1918A>G (p.Ile640Val) c.1219A>G (p.Ile407Val)	dbSNP gnomAD v4
16	g.3778152T>G	CA394554846	CREBBP	c.1972A>C (p.Ile658Leu) c.1858A>C (p.Ile620Leu) c.577A>C (p.Ile193Leu) c.21A>C c.285A>C n.134A>C c.1918A>C (p.Ile640Leu) c.1219A>C (p.Ile407Leu)
16	g.3778152T=	CA2202958872	CREBBP	c.1972A= (p.Ile658=) c.1858A= (p.Ile620=) c.577A= (p.Ile193=) c.21A= c.285A= n.134A= c.1918A= (p.Ile640=) c.1219A= (p.Ile407=)
16	g.3778153T>A	CA394554849	CREBBP	c.1971A>T (p.Lys657Asn) c.1857A>T (p.Lys619Asn) c.576A>T (p.Lys192Asn) c.20A>T c.284A>T n.133A>T c.1917A>T (p.Lys639Asn) c.1218A>T (p.Lys406Asn)	dbSNP
16	g.3778153T>C	CA493276332	CREBBP	c.1971A>G (p.Lys657=) c.1857A>G (p.Lys619=) c.576A>G (p.Lys192=) c.20A>G c.284A>G n.133A>G c.1917A>G (p.Lys639=) c.1218A>G (p.Lys406=)	gnomAD v4
16	g.3778153T>G	CA394554850	CREBBP	c.1971A>C (p.Lys657Asn) c.1857A>C (p.Lys619Asn) c.576A>C (p.Lys192Asn) c.20A>C c.284A>C n.133A>C c.1917A>C (p.Lys639Asn) c.1218A>C (p.Lys406Asn)
16	g.3778154T>A	CA394554853	CREBBP	c.1970A>T (p.Lys657Ile) c.1856A>T (p.Lys619Ile) c.575A>T (p.Lys192Ile) c.19A>T c.283A>T n.132A>T c.1916A>T (p.Lys639Ile) c.1217A>T (p.Lys406Ile)	dbSNP
16	g.3778154T>C	CA394554855	CREBBP	c.1970A>G (p.Lys657Arg) c.1856A>G (p.Lys619Arg) c.575A>G (p.Lys192Arg) c.19A>G c.283A>G n.132A>G c.1916A>G (p.Lys639Arg) c.1217A>G (p.Lys406Arg)	ClinVar
16	g.3778154T>G	CA394554857	CREBBP	c.1970A>C (p.Lys657Thr) c.1856A>C (p.Lys619Thr) c.575A>C (p.Lys192Thr) c.19A>C c.283A>C n.132A>C c.1916A>C (p.Lys639Thr) c.1217A>C (p.Lys406Thr)
16	g.3778155T>A	CA394554859	CREBBP	c.1969A>T (p.Lys657Ter) c.1855A>T (p.Lys619Ter) c.574A>T (p.Lys192Ter) c.18A>T c.282A>T n.131A>T c.1915A>T (p.Lys639Ter) c.1216A>T (p.Lys406Ter)	dbSNP
16	g.3778155T>C	CA394554861	CREBBP	c.1969A>G (p.Lys657Glu) c.1855A>G (p.Lys619Glu) c.574A>G (p.Lys192Glu) c.18A>G c.282A>G n.131A>G c.1915A>G (p.Lys639Glu) c.1216A>G (p.Lys406Glu)	ClinVar dbSNP
16	g.3778155T>G	CA394554863	CREBBP	c.1969A>C (p.Lys657Gln) c.1855A>C (p.Lys619Gln) c.574A>C (p.Lys192Gln) c.18A>C c.282A>C n.131A>C c.1915A>C (p.Lys639Gln) c.1216A>C (p.Lys406Gln)
16	g.3778155T=	CA2202958876	CREBBP	c.1969A= (p.Lys657=) c.1855A= (p.Lys619=) c.574A= (p.Lys192=) c.18A= c.282A= n.131A= c.1915A= (p.Lys639=) c.1216A= (p.Lys406=)
16	g.3778156C>A	CA394554867	CREBBP	c.1968G>T (p.Glu656Asp) c.1854G>T (p.Glu618Asp) c.573G>T (p.Glu191Asp) c.17G>T c.281G>T n.130G>T c.1914G>T (p.Glu638Asp) c.1215G>T (p.Glu405Asp)	dbSNP
16	g.3778156C>G	CA394554865	CREBBP	c.1968G>C (p.Glu656Asp) c.1854G>C (p.Glu618Asp) c.573G>C (p.Glu191Asp) c.17G>C c.281G>C n.130G>C c.1914G>C (p.Glu638Asp) c.1215G>C (p.Glu405Asp)	dbSNP
16	g.3778156C>T	CA493276333	CREBBP	c.1968G>A (p.Glu656=) c.1854G>A (p.Glu618=) c.573G>A (p.Glu191=) c.17G>A c.281G>A n.130G>A c.1914G>A (p.Glu638=) c.1215G>A (p.Glu405=)	dbSNP
16	g.3778157T>A	CA394554869	CREBBP	c.1967A>T (p.Glu656Val) c.1853A>T (p.Glu618Val) c.572A>T (p.Glu191Val) c.16A>T c.280A>T n.129A>T c.1913A>T (p.Glu638Val) c.1214A>T (p.Glu405Val)
16	g.3778157T>C	CA394554873	CREBBP	c.1967A>G (p.Glu656Gly) c.1853A>G (p.Glu618Gly) c.572A>G (p.Glu191Gly) c.16A>G c.280A>G n.129A>G c.1913A>G (p.Glu638Gly) c.1214A>G (p.Glu405Gly)	gnomAD v4
16	g.3778157T>G	CA394554871	CREBBP	c.1967A>C (p.Glu656Ala) c.1853A>C (p.Glu618Ala) c.572A>C (p.Glu191Ala) c.16A>C c.280A>C n.129A>C c.1913A>C (p.Glu638Ala) c.1214A>C (p.Glu405Ala)
16	g.3778158C>A	CA394554876	CREBBP	c.1966G>T (p.Glu656Ter) c.1852G>T (p.Glu618Ter) c.571G>T (p.Glu191Ter) c.15G>T c.279G>T n.128G>T c.1912G>T (p.Glu638Ter) c.1213G>T (p.Glu405Ter)
16	g.3778158C=	CA2202958880	CREBBP	c.1966G= (p.Glu656=) c.1852G= (p.Glu618=) c.571G= (p.Glu191=) c.15G= c.279G= n.128G= c.1912G= (p.Glu638=) c.1213G= (p.Glu405=)
16	g.3778158C>G	CA7870298	CREBBP	c.1966G>C (p.Glu656Gln) c.1852G>C (p.Glu618Gln) c.571G>C (p.Glu191Gln) c.15G>C c.279G>C n.128G>C c.1912G>C (p.Glu638Gln) c.1213G>C (p.Glu405Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3778158C>T	CA394554879	CREBBP	c.1966G>A (p.Glu656Lys) c.1852G>A (p.Glu618Lys) c.571G>A (p.Glu191Lys) c.15G>A c.279G>A n.128G>A c.1912G>A (p.Glu638Lys) c.1213G>A (p.Glu405Lys)	dbSNP
16	g.3778158dup	CA2575894313	CREBBP	c.1966dup (p.Glu656GlyfsTer20) c.1852dup (p.Glu618GlyfsTer20) c.571dup (p.Glu191GlyfsTer20) c.15dup c.279dup n.128dup c.1912dup (p.Glu638GlyfsTer20) c.1213dup (p.Glu405GlyfsTer20)
16	g.3778159T>A	CA493276335	CREBBP	c.1965A>T (p.Ala655=) c.1851A>T (p.Ala617=) c.570A>T (p.Ala190=) c.14A>T c.278A>T n.127A>T c.1911A>T (p.Ala637=) c.1212A>T (p.Ala404=)	dbSNP
16	g.3778159T>C	CA7870299	CREBBP	c.1965A>G (p.Ala655=) c.1851A>G (p.Ala617=) c.570A>G (p.Ala190=) c.14A>G c.278A>G n.127A>G c.1911A>G (p.Ala637=) c.1212A>G (p.Ala404=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3778159T>G	CA493276334	CREBBP	c.1965A>C (p.Ala655=) c.1851A>C (p.Ala617=) c.570A>C (p.Ala190=) c.14A>C c.278A>C n.127A>C c.1911A>C (p.Ala637=) c.1212A>C (p.Ala404=)
16	g.3778159T=	CA2202958882	CREBBP	c.1965A= (p.Ala655=) c.1851A= (p.Ala617=) c.570A= (p.Ala190=) c.14A= c.278A= n.127A= c.1911A= (p.Ala637=) c.1212A= (p.Ala404=)
16	g.3778160G>A	CA394554882	CREBBP	c.1964C>T (p.Ala655Val) c.1850C>T (p.Ala617Val) c.569C>T (p.Ala190Val) c.13C>T c.277C>T n.126C>T c.1910C>T (p.Ala637Val) c.1211C>T (p.Ala404Val)	dbSNP
16	g.3778160G>C	CA394554884	CREBBP	c.1964C>G (p.Ala655Gly) c.1850C>G (p.Ala617Gly) c.569C>G (p.Ala190Gly) c.13C>G c.277C>G n.126C>G c.1910C>G (p.Ala637Gly) c.1211C>G (p.Ala404Gly)	dbSNP
16	g.3778160G>T	CA394554886	CREBBP	c.1964C>A (p.Ala655Glu) c.1850C>A (p.Ala617Glu) c.569C>A (p.Ala190Glu) c.13C>A c.277C>A n.126C>A c.1910C>A (p.Ala637Glu) c.1211C>A (p.Ala404Glu)	dbSNP
16	g.3778161C>A	CA394554888	CREBBP	c.1963G>T (p.Ala655Ser) c.1849G>T (p.Ala617Ser) c.568G>T (p.Ala190Ser) c.12G>T c.276G>T n.125G>T c.1909G>T (p.Ala637Ser) c.1210G>T (p.Ala404Ser)	dbSNP
16	g.3778161C>G	CA394554890	CREBBP	c.1963G>C (p.Ala655Pro) c.1849G>C (p.Ala617Pro) c.568G>C (p.Ala190Pro) c.12G>C c.276G>C n.125G>C c.1909G>C (p.Ala637Pro) c.1210G>C (p.Ala404Pro)	dbSNP
16	g.3778161C>T	CA394554892	CREBBP	c.1963G>A (p.Ala655Thr) c.1849G>A (p.Ala617Thr) c.568G>A (p.Ala190Thr) c.12G>A c.276G>A n.125G>A c.1909G>A (p.Ala637Thr) c.1210G>A (p.Ala404Thr)	dbSNP
16	g.3778162T>A	CA394554894	CREBBP	c.1962A>T (p.Leu654Phe) c.1848A>T (p.Leu616Phe) c.567A>T (p.Leu189Phe) c.11A>T c.275A>T n.124A>T c.1908A>T (p.Leu636Phe) c.1209A>T (p.Leu403Phe)
16	g.3778162T>C	CA7870300	CREBBP	c.1962A>G (p.Leu654=) c.1848A>G (p.Leu616=) c.567A>G (p.Leu189=) c.11A>G c.275A>G n.124A>G c.1908A>G (p.Leu636=) c.1209A>G (p.Leu403=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778162T>G	CA394554898	CREBBP	c.1962A>C (p.Leu654Phe) c.1848A>C (p.Leu616Phe) c.567A>C (p.Leu189Phe) c.11A>C c.275A>C n.124A>C c.1908A>C (p.Leu636Phe) c.1209A>C (p.Leu403Phe)
16	g.3778162T=	CA2202958884	CREBBP	c.1962A= (p.Leu654=) c.1848A= (p.Leu616=) c.567A= (p.Leu189=) c.11A= c.275A= n.124A= c.1908A= (p.Leu636=) c.1209A= (p.Leu403=)
16	g.3778163A>C	CA394554904	CREBBP	c.1961T>G (p.Leu654Ter) c.1847T>G (p.Leu616Ter) c.566T>G (p.Leu189Ter) c.10T>G c.274T>G n.123T>G c.1907T>G (p.Leu636Ter) c.1208T>G (p.Leu403Ter)
16	g.3778163A>G	CA394554900	CREBBP	c.1961T>C (p.Leu654Ser) c.1847T>C (p.Leu616Ser) c.566T>C (p.Leu189Ser) c.10T>C c.274T>C n.123T>C c.1907T>C (p.Leu636Ser) c.1208T>C (p.Leu403Ser)
16	g.3778163A>T	CA394554902	CREBBP	c.1961T>A (p.Leu654Ter) c.1847T>A (p.Leu616Ter) c.566T>A (p.Leu189Ter) c.10T>A c.274T>A n.123T>A c.1907T>A (p.Leu636Ter) c.1208T>A (p.Leu403Ter)	dbSNP
16	g.3778164A=	CA2202958886	CREBBP	c.1960T= (p.Leu654=) c.1846T= (p.Leu616=) c.565T= (p.Leu189=) c.9T= c.273T= n.122T= c.1906T= (p.Leu636=) c.1207T= (p.Leu403=)
16	g.3778164A>C	CA394554906	CREBBP	c.1960T>G (p.Leu654Val) c.1846T>G (p.Leu616Val) c.565T>G (p.Leu189Val) c.9T>G c.273T>G n.122T>G c.1906T>G (p.Leu636Val) c.1207T>G (p.Leu403Val)
16	g.3778164A>G	CA7870301	CREBBP	c.1960T>C (p.Leu654=) c.1846T>C (p.Leu616=) c.565T>C (p.Leu189=) c.9T>C c.273T>C n.122T>C c.1906T>C (p.Leu636=) c.1207T>C (p.Leu403=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3778164A>T	CA394554907	CREBBP	c.1960T>A (p.Leu654Ile) c.1846T>A (p.Leu616Ile) c.565T>A (p.Leu189Ile) c.9T>A c.273T>A n.122T>A c.1906T>A (p.Leu636Ile) c.1207T>A (p.Leu403Ile)	dbSNP
16	g.3778165T>A	CA394554909	CREBBP	c.1959A>T (p.Leu653Phe) c.1845A>T (p.Leu615Phe) c.564A>T (p.Leu188Phe) c.8A>T c.272A>T n.121A>T c.1905A>T (p.Leu635Phe) c.1206A>T (p.Leu402Phe)	dbSNP
16	g.3778165T>C	CA493276336	CREBBP	c.1959A>G (p.Leu653=) c.1845A>G (p.Leu615=) c.564A>G (p.Leu188=) c.8A>G c.272A>G n.121A>G c.1905A>G (p.Leu635=) c.1206A>G (p.Leu402=)	dbSNP
16	g.3778165T>G	CA394554911	CREBBP	c.1959A>C (p.Leu653Phe) c.1845A>C (p.Leu615Phe) c.564A>C (p.Leu188Phe) c.8A>C c.272A>C n.121A>C c.1905A>C (p.Leu635Phe) c.1206A>C (p.Leu402Phe)
16	g.3778166A>C	CA394554913	CREBBP	c.1958T>G (p.Leu653Ter) c.1844T>G (p.Leu615Ter) c.563T>G (p.Leu188Ter) c.7T>G c.271T>G n.120T>G c.1904T>G (p.Leu635Ter) c.1205T>G (p.Leu402Ter)
16	g.3778166A>G	CA394554915	CREBBP	c.1958T>C (p.Leu653Ser) c.1844T>C (p.Leu615Ser) c.563T>C (p.Leu188Ser) c.7T>C c.271T>C n.120T>C c.1904T>C (p.Leu635Ser) c.1205T>C (p.Leu402Ser)
16	g.3778166A>T	CA394554916	CREBBP	c.1958T>A (p.Leu653Ter) c.1844T>A (p.Leu615Ter) c.563T>A (p.Leu188Ter) c.7T>A c.271T>A n.120T>A c.1904T>A (p.Leu635Ter) c.1205T>A (p.Leu402Ter)
16	g.3778167A>C	CA394554918	CREBBP	c.1957T>G (p.Leu653Val) c.1843T>G (p.Leu615Val) c.562T>G (p.Leu188Val) c.6T>G c.270T>G n.119T>G c.1903T>G (p.Leu635Val) c.1204T>G (p.Leu402Val)
16	g.3778167A>G	CA493276337	CREBBP	c.1957T>C (p.Leu653=) c.1843T>C (p.Leu615=) c.562T>C (p.Leu188=) c.6T>C c.270T>C n.119T>C c.1903T>C (p.Leu635=) c.1204T>C (p.Leu402=)
16	g.3778167A>T	CA394554920	CREBBP	c.1957T>A (p.Leu653Ile) c.1843T>A (p.Leu615Ile) c.562T>A (p.Leu188Ile) c.6T>A c.270T>A n.119T>A c.1903T>A (p.Leu635Ile) c.1204T>A (p.Leu402Ile)	dbSNP
16	g.3778168G>A	CA493276338	CREBBP	c.1956C>T (p.His652=) c.1842C>T (p.His614=) c.561C>T (p.His187=) c.5C>T c.269C>T n.118C>T c.1902C>T (p.His634=) c.1203C>T (p.His401=)	dbSNP
16	g.3778168G>C	CA394554922	CREBBP	c.1956C>G (p.His652Gln) c.1842C>G (p.His614Gln) c.561C>G (p.His187Gln) c.5C>G c.269C>G n.118C>G c.1902C>G (p.His634Gln) c.1203C>G (p.His401Gln)	dbSNP
16	g.3778168G=	CA2202958889	CREBBP	c.1956C= (p.His652=) c.1842C= (p.His614=) c.561C= (p.His187=) c.5C= c.269C= n.118C= c.1902C= (p.His634=) c.1203C= (p.His401=)
16	g.3778168G>T	CA394554923	CREBBP	c.1956C>A (p.His652Gln) c.1842C>A (p.His614Gln) c.561C>A (p.His187Gln) c.5C>A c.269C>A n.118C>A c.1902C>A (p.His634Gln) c.1203C>A (p.His401Gln)
16	g.3778169T>A	CA394554927	CREBBP	c.1955A>T (p.His652Leu) c.1841A>T (p.His614Leu) c.560A>T (p.His187Leu) c.4A>T c.268A>T n.117A>T c.1901A>T (p.His634Leu) c.1202A>T (p.His401Leu)	dbSNP
16	g.3778169T>C	CA394554928	CREBBP	c.1955A>G (p.His652Arg) c.1841A>G (p.His614Arg) c.560A>G (p.His187Arg) c.4A>G c.268A>G n.117A>G c.1901A>G (p.His634Arg) c.1202A>G (p.His401Arg)	dbSNP COSMIC
16	g.3778169T>G	CA271368	CREBBP	c.1955A>C (p.His652Pro) c.1841A>C (p.His614Pro) c.560A>C (p.His187Pro) c.4A>C c.268A>C n.117A>C c.1901A>C (p.His634Pro) c.1202A>C (p.His401Pro)	ClinVar dbSNP
16	g.3778169T=	CA2202958894	CREBBP	c.1955A= (p.His652=) c.1841A= (p.His614=) c.560A= (p.His187=) c.4A= c.268A= n.117A= c.1901A= (p.His634=) c.1202A= (p.His401=)

Number of alleles fetched