Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3728786C>A	CA493393664	CREBBP	c.6261G>T (p.Leu2087=) c.6147G>T (p.Leu2049=) c.6216G>T (p.Leu2072=) c.5844G>T (p.Leu1948=) c.6000G>T (p.Leu2000=) c.6207G>T (p.Leu2069=) c.5508G>T (p.Leu1836=) c.6255G>T (p.Leu2085=)	dbSNP
16	g.3728786C=	CA2202928851	CREBBP	c.6261G= (p.Leu2087=) c.6147G= (p.Leu2049=) c.6216G= (p.Leu2072=) c.5844G= (p.Leu1948=) c.6000G= (p.Leu2000=) c.6207G= (p.Leu2069=) c.5508G= (p.Leu1836=) c.6255G= (p.Leu2085=)
16	g.3728786C>G	CA493393665	CREBBP	c.6261G>C (p.Leu2087=) c.6147G>C (p.Leu2049=) c.6216G>C (p.Leu2072=) c.5844G>C (p.Leu1948=) c.6000G>C (p.Leu2000=) c.6207G>C (p.Leu2069=) c.5508G>C (p.Leu1836=) c.6255G>C (p.Leu2085=)	dbSNP
16	g.3728786C>T	CA493393666	CREBBP	c.6261G>A (p.Leu2087=) c.6147G>A (p.Leu2049=) c.6216G>A (p.Leu2072=) c.5844G>A (p.Leu1948=) c.6000G>A (p.Leu2000=) c.6207G>A (p.Leu2069=) c.5508G>A (p.Leu1836=) c.6255G>A (p.Leu2085=)	dbSNP gnomAD v2 gnomAD v4
16	g.3728787A>C	CA394553778	CREBBP	c.6260T>G (p.Leu2087Arg) c.6146T>G (p.Leu2049Arg) c.6215T>G (p.Leu2072Arg) c.5843T>G (p.Leu1948Arg) c.5999T>G (p.Leu2000Arg) c.6206T>G (p.Leu2069Arg) c.5507T>G (p.Leu1836Arg) c.6254T>G (p.Leu2085Arg)
16	g.3728787A>G	CA394553779	CREBBP	c.6260T>C (p.Leu2087Pro) c.6146T>C (p.Leu2049Pro) c.6215T>C (p.Leu2072Pro) c.5843T>C (p.Leu1948Pro) c.5999T>C (p.Leu2000Pro) c.6206T>C (p.Leu2069Pro) c.5507T>C (p.Leu1836Pro) c.6254T>C (p.Leu2085Pro)	dbSNP
16	g.3728787A>T	CA394553780	CREBBP	c.6260T>A (p.Leu2087Gln) c.6146T>A (p.Leu2049Gln) c.6215T>A (p.Leu2072Gln) c.5843T>A (p.Leu1948Gln) c.5999T>A (p.Leu2000Gln) c.6206T>A (p.Leu2069Gln) c.5507T>A (p.Leu1836Gln) c.6254T>A (p.Leu2085Gln)	dbSNP
16	g.3728788G>A	CA493393667	CREBBP	c.6259C>T (p.Leu2087=) c.6145C>T (p.Leu2049=) c.6214C>T (p.Leu2072=) c.5842C>T (p.Leu1948=) c.5998C>T (p.Leu2000=) c.6205C>T (p.Leu2069=) c.5506C>T (p.Leu1836=) c.6253C>T (p.Leu2085=)
16	g.3728788G>C	CA394553781	CREBBP	c.6259C>G (p.Leu2087Val) c.6145C>G (p.Leu2049Val) c.6214C>G (p.Leu2072Val) c.5842C>G (p.Leu1948Val) c.5998C>G (p.Leu2000Val) c.6205C>G (p.Leu2069Val) c.5506C>G (p.Leu1836Val) c.6253C>G (p.Leu2085Val)	dbSNP
16	g.3728788G>T	CA394553782	CREBBP	c.6259C>A (p.Leu2087Met) c.6145C>A (p.Leu2049Met) c.6214C>A (p.Leu2072Met) c.5842C>A (p.Leu1948Met) c.5998C>A (p.Leu2000Met) c.6205C>A (p.Leu2069Met) c.5506C>A (p.Leu1836Met) c.6253C>A (p.Leu2085Met)
16	g.3728789C>A	CA493393668	CREBBP	c.6258G>T (p.Val2086=) c.6144G>T (p.Val2048=) c.6213G>T (p.Val2071=) c.5841G>T (p.Val1947=) c.5997G>T (p.Val1999=) c.6204G>T (p.Val2068=) c.5505G>T (p.Val1835=) c.6252G>T (p.Val2084=)	dbSNP
16	g.3728789C>G	CA493393669	CREBBP	c.6258G>C (p.Val2086=) c.6144G>C (p.Val2048=) c.6213G>C (p.Val2071=) c.5841G>C (p.Val1947=) c.5997G>C (p.Val1999=) c.6204G>C (p.Val2068=) c.5505G>C (p.Val1835=) c.6252G>C (p.Val2084=)	dbSNP
16	g.3728789C>T	CA493393670	CREBBP	c.6258G>A (p.Val2086=) c.6144G>A (p.Val2048=) c.6213G>A (p.Val2071=) c.5841G>A (p.Val1947=) c.5997G>A (p.Val1999=) c.6204G>A (p.Val2068=) c.5505G>A (p.Val1835=) c.6252G>A (p.Val2084=)	dbSNP gnomAD v4
16	g.3728790A>C	CA394553785	CREBBP	c.6257T>G (p.Val2086Gly) c.6143T>G (p.Val2048Gly) c.6212T>G (p.Val2071Gly) c.5840T>G (p.Val1947Gly) c.5996T>G (p.Val1999Gly) c.6203T>G (p.Val2068Gly) c.5504T>G (p.Val1835Gly) c.6251T>G (p.Val2084Gly)	dbSNP
16	g.3728790A>G	CA394553784	CREBBP	c.6257T>C (p.Val2086Ala) c.6143T>C (p.Val2048Ala) c.6212T>C (p.Val2071Ala) c.5840T>C (p.Val1947Ala) c.5996T>C (p.Val1999Ala) c.6203T>C (p.Val2068Ala) c.5504T>C (p.Val1835Ala) c.6251T>C (p.Val2084Ala)	dbSNP gnomAD v4
16	g.3728790A>T	CA394553783	CREBBP	c.6257T>A (p.Val2086Glu) c.6143T>A (p.Val2048Glu) c.6212T>A (p.Val2071Glu) c.5840T>A (p.Val1947Glu) c.5996T>A (p.Val1999Glu) c.6203T>A (p.Val2068Glu) c.5504T>A (p.Val1835Glu) c.6251T>A (p.Val2084Glu)	dbSNP
16	g.3728791C>A	CA394553786	CREBBP	c.6256G>T (p.Val2086Leu) c.6142G>T (p.Val2048Leu) c.6211G>T (p.Val2071Leu) c.5839G>T (p.Val1947Leu) c.5995G>T (p.Val1999Leu) c.6202G>T (p.Val2068Leu) c.5503G>T (p.Val1835Leu) c.6250G>T (p.Val2084Leu)
16	g.3728791C>G	CA394553787	CREBBP	c.6256G>C (p.Val2086Leu) c.6142G>C (p.Val2048Leu) c.6211G>C (p.Val2071Leu) c.5839G>C (p.Val1947Leu) c.5995G>C (p.Val1999Leu) c.6202G>C (p.Val2068Leu) c.5503G>C (p.Val1835Leu) c.6250G>C (p.Val2084Leu)
16	g.3728791C>T	CA394553788	CREBBP	c.6256G>A (p.Val2086Met) c.6142G>A (p.Val2048Met) c.6211G>A (p.Val2071Met) c.5839G>A (p.Val1947Met) c.5995G>A (p.Val1999Met) c.6202G>A (p.Val2068Met) c.5503G>A (p.Val1835Met) c.6250G>A (p.Val2084Met)	dbSNP
16	g.3728791_3728792dup	CA2805632986	CREBBP	c.6255_6256dup (p.Val2086GlyfsTer3) c.6141_6142dup (p.Val2048GlyfsTer3) c.6210_6211dup (p.Val2071GlyfsTer3) c.5838_5839dup (p.Val1947GlyfsTer3) c.5994_5995dup (p.Val1999GlyfsTer3) c.6201_6202dup (p.Val2068GlyfsTer3) c.5502_5503dup (p.Val1835GlyfsTer3) c.6249_6250dup (p.Val2084GlyfsTer3)
16	g.3728792C>A	CA394553789	CREBBP	c.6255G>T (p.Gln2085His) c.6141G>T (p.Gln2047His) c.6210G>T (p.Gln2070His) c.5838G>T (p.Gln1946His) c.5994G>T (p.Gln1998His) c.6201G>T (p.Gln2067His) c.5502G>T (p.Gln1834His) c.6249G>T (p.Gln2083His)
16	g.3728792C=	CA2202928852	CREBBP	c.6255G= (p.Gln2085=) c.6141G= (p.Gln2047=) c.6210G= (p.Gln2070=) c.5838G= (p.Gln1946=) c.5994G= (p.Gln1998=) c.6201G= (p.Gln2067=) c.5502G= (p.Gln1834=) c.6249G= (p.Gln2083=)
16	g.3728792C>G	CA394553790	CREBBP	c.6255G>C (p.Gln2085His) c.6141G>C (p.Gln2047His) c.6210G>C (p.Gln2070His) c.5838G>C (p.Gln1946His) c.5994G>C (p.Gln1998His) c.6201G>C (p.Gln2067His) c.5502G>C (p.Gln1834His) c.6249G>C (p.Gln2083His)
16	g.3728792C>T	CA7869152	CREBBP	c.6255G>A (p.Gln2085=) c.6141G>A (p.Gln2047=) c.6210G>A (p.Gln2070=) c.5838G>A (p.Gln1946=) c.5994G>A (p.Gln1998=) c.6201G>A (p.Gln2067=) c.5502G>A (p.Gln1834=) c.6249G>A (p.Gln2083=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728793T>A	CA394553791	CREBBP	c.6254A>T (p.Gln2085Leu) c.6140A>T (p.Gln2047Leu) c.6209A>T (p.Gln2070Leu) c.5837A>T (p.Gln1946Leu) c.5993A>T (p.Gln1998Leu) c.6200A>T (p.Gln2067Leu) c.5501A>T (p.Gln1834Leu) c.6248A>T (p.Gln2083Leu)	dbSNP
16	g.3728793T>C	CA394553792	CREBBP	c.6254A>G (p.Gln2085Arg) c.6140A>G (p.Gln2047Arg) c.6209A>G (p.Gln2070Arg) c.5837A>G (p.Gln1946Arg) c.5993A>G (p.Gln1998Arg) c.6200A>G (p.Gln2067Arg) c.5501A>G (p.Gln1834Arg) c.6248A>G (p.Gln2083Arg)	dbSNP
16	g.3728793T>G	CA394553793	CREBBP	c.6254A>C (p.Gln2085Pro) c.6140A>C (p.Gln2047Pro) c.6209A>C (p.Gln2070Pro) c.5837A>C (p.Gln1946Pro) c.5993A>C (p.Gln1998Pro) c.6200A>C (p.Gln2067Pro) c.5501A>C (p.Gln1834Pro) c.6248A>C (p.Gln2083Pro)
16	g.3728794G>A	CA394553794	CREBBP	c.6253C>T (p.Gln2085Ter) c.6139C>T (p.Gln2047Ter) c.6208C>T (p.Gln2070Ter) c.5836C>T (p.Gln1946Ter) c.5992C>T (p.Gln1998Ter) c.6199C>T (p.Gln2067Ter) c.5500C>T (p.Gln1834Ter) c.6247C>T (p.Gln2083Ter)	dbSNP COSMIC
16	g.3728794G>C	CA394553795	CREBBP	c.6253C>G (p.Gln2085Glu) c.6139C>G (p.Gln2047Glu) c.6208C>G (p.Gln2070Glu) c.5836C>G (p.Gln1946Glu) c.5992C>G (p.Gln1998Glu) c.6199C>G (p.Gln2067Glu) c.5500C>G (p.Gln1834Glu) c.6247C>G (p.Gln2083Glu)	dbSNP
16	g.3728794G>T	CA394553796	CREBBP	c.6253C>A (p.Gln2085Lys) c.6139C>A (p.Gln2047Lys) c.6208C>A (p.Gln2070Lys) c.5836C>A (p.Gln1946Lys) c.5992C>A (p.Gln1998Lys) c.6199C>A (p.Gln2067Lys) c.5500C>A (p.Gln1834Lys) c.6247C>A (p.Gln2083Lys)	dbSNP
16	g.3728795C>A	CA394553797	CREBBP	c.6252G>T (p.Gln2084His) c.6138G>T (p.Gln2046His) c.6207G>T (p.Gln2069His) c.5835G>T (p.Gln1945His) c.5991G>T (p.Gln1997His) c.6198G>T (p.Gln2066His) c.5499G>T (p.Gln1833His) c.6246G>T (p.Gln2082His)	dbSNP
16	g.3728795C=	CA2202928853	CREBBP	c.6252G= (p.Gln2084=) c.6138G= (p.Gln2046=) c.6207G= (p.Gln2069=) c.5835G= (p.Gln1945=) c.5991G= (p.Gln1997=) c.6198G= (p.Gln2066=) c.5499G= (p.Gln1833=) c.6246G= (p.Gln2082=)
16	g.3728795C>G	CA394553798	CREBBP	c.6252G>C (p.Gln2084His) c.6138G>C (p.Gln2046His) c.6207G>C (p.Gln2069His) c.5835G>C (p.Gln1945His) c.5991G>C (p.Gln1997His) c.6198G>C (p.Gln2066His) c.5499G>C (p.Gln1833His) c.6246G>C (p.Gln2082His)	dbSNP
16	g.3728795C>T	CA493393671	CREBBP	c.6252G>A (p.Gln2084=) c.6138G>A (p.Gln2046=) c.6207G>A (p.Gln2069=) c.5835G>A (p.Gln1945=) c.5991G>A (p.Gln1997=) c.6198G>A (p.Gln2066=) c.5499G>A (p.Gln1833=) c.6246G>A (p.Gln2082=)	dbSNP gnomAD v4
16	g.3728796T>A	CA394553800	CREBBP	c.6251A>T (p.Gln2084Leu) c.6137A>T (p.Gln2046Leu) c.6206A>T (p.Gln2069Leu) c.5834A>T (p.Gln1945Leu) c.5990A>T (p.Gln1997Leu) c.6197A>T (p.Gln2066Leu) c.5498A>T (p.Gln1833Leu) c.6245A>T (p.Gln2082Leu)	dbSNP
16	g.3728796T>C	CA394553801	CREBBP	c.6251A>G (p.Gln2084Arg) c.6137A>G (p.Gln2046Arg) c.6206A>G (p.Gln2069Arg) c.5834A>G (p.Gln1945Arg) c.5990A>G (p.Gln1997Arg) c.6197A>G (p.Gln2066Arg) c.5498A>G (p.Gln1833Arg) c.6245A>G (p.Gln2082Arg)
16	g.3728796T>G	CA394553799	CREBBP	c.6251A>C (p.Gln2084Pro) c.6137A>C (p.Gln2046Pro) c.6206A>C (p.Gln2069Pro) c.5834A>C (p.Gln1945Pro) c.5990A>C (p.Gln1997Pro) c.6197A>C (p.Gln2066Pro) c.5498A>C (p.Gln1833Pro) c.6245A>C (p.Gln2082Pro)
16	g.3728797del	CA2695222737	CREBBP	c.6250del (p.Gln2084SerfsTer4) c.6136del (p.Gln2046SerfsTer4) c.6205del (p.Gln2069SerfsTer4) c.5833del (p.Gln1945SerfsTer4) c.5989del (p.Gln1997SerfsTer4) c.6196del (p.Gln2066SerfsTer4) c.5497del (p.Gln1833SerfsTer4) c.6244del (p.Gln2082SerfsTer4)
16	g.3728797G>A	CA394553802	CREBBP	c.6250C>T (p.Gln2084Ter) c.6136C>T (p.Gln2046Ter) c.6205C>T (p.Gln2069Ter) c.5833C>T (p.Gln1945Ter) c.5989C>T (p.Gln1997Ter) c.6196C>T (p.Gln2066Ter) c.5497C>T (p.Gln1833Ter) c.6244C>T (p.Gln2082Ter)	ClinVar dbSNP
16	g.3728797G>C	CA394553803	CREBBP	c.6250C>G (p.Gln2084Glu) c.6136C>G (p.Gln2046Glu) c.6205C>G (p.Gln2069Glu) c.5833C>G (p.Gln1945Glu) c.5989C>G (p.Gln1997Glu) c.6196C>G (p.Gln2066Glu) c.5497C>G (p.Gln1833Glu) c.6244C>G (p.Gln2082Glu)	dbSNP
16	g.3728797G=	CA2202928854	CREBBP	c.6250C= (p.Gln2084=) c.6136C= (p.Gln2046=) c.6205C= (p.Gln2069=) c.5833C= (p.Gln1945=) c.5989C= (p.Gln1997=) c.6196C= (p.Gln2066=) c.5497C= (p.Gln1833=) c.6244C= (p.Gln2082=)
16	g.3728797G>T	CA394553804	CREBBP	c.6250C>A (p.Gln2084Lys) c.6136C>A (p.Gln2046Lys) c.6205C>A (p.Gln2069Lys) c.5833C>A (p.Gln1945Lys) c.5989C>A (p.Gln1997Lys) c.6196C>A (p.Gln2066Lys) c.5497C>A (p.Gln1833Lys) c.6244C>A (p.Gln2082Lys)
16	g.3728798T>A	CA394553805	CREBBP	c.6249A>T (p.Gln2083His) c.6135A>T (p.Gln2045His) c.6204A>T (p.Gln2068His) c.5832A>T (p.Gln1944His) c.5988A>T (p.Gln1996His) c.6195A>T (p.Gln2065His) c.5496A>T (p.Gln1832His) c.6243A>T (p.Gln2081His)
16	g.3728798T>C	CA493393672	CREBBP	c.6249A>G (p.Gln2083=) c.6135A>G (p.Gln2045=) c.6204A>G (p.Gln2068=) c.5832A>G (p.Gln1944=) c.5988A>G (p.Gln1996=) c.6195A>G (p.Gln2065=) c.5496A>G (p.Gln1832=) c.6243A>G (p.Gln2081=)	gnomAD v4
16	g.3728798T>G	CA394553806	CREBBP	c.6249A>C (p.Gln2083His) c.6135A>C (p.Gln2045His) c.6204A>C (p.Gln2068His) c.5832A>C (p.Gln1944His) c.5988A>C (p.Gln1996His) c.6195A>C (p.Gln2065His) c.5496A>C (p.Gln1832His) c.6243A>C (p.Gln2081His)
16	g.3728799T>A	CA394553807	CREBBP	c.6248A>T (p.Gln2083Leu) c.6134A>T (p.Gln2045Leu) c.6203A>T (p.Gln2068Leu) c.5831A>T (p.Gln1944Leu) c.5987A>T (p.Gln1996Leu) c.6194A>T (p.Gln2065Leu) c.5495A>T (p.Gln1832Leu) c.6242A>T (p.Gln2081Leu)	dbSNP
16	g.3728799T>C	CA394553808	CREBBP	c.6248A>G (p.Gln2083Arg) c.6134A>G (p.Gln2045Arg) c.6203A>G (p.Gln2068Arg) c.5831A>G (p.Gln1944Arg) c.5987A>G (p.Gln1996Arg) c.6194A>G (p.Gln2065Arg) c.5495A>G (p.Gln1832Arg) c.6242A>G (p.Gln2081Arg)
16	g.3728799T>G	CA394553809	CREBBP	c.6248A>C (p.Gln2083Pro) c.6134A>C (p.Gln2045Pro) c.6203A>C (p.Gln2068Pro) c.5831A>C (p.Gln1944Pro) c.5987A>C (p.Gln1996Pro) c.6194A>C (p.Gln2065Pro) c.5495A>C (p.Gln1832Pro) c.6242A>C (p.Gln2081Pro)	dbSNP
16	g.3728800G>A	CA394553810	CREBBP	c.6247C>T (p.Gln2083Ter) c.6133C>T (p.Gln2045Ter) c.6202C>T (p.Gln2068Ter) c.5830C>T (p.Gln1944Ter) c.5986C>T (p.Gln1996Ter) c.6193C>T (p.Gln2065Ter) c.5494C>T (p.Gln1832Ter) c.6241C>T (p.Gln2081Ter)	dbSNP
16	g.3728800G>C	CA394553811	CREBBP	c.6247C>G (p.Gln2083Glu) c.6133C>G (p.Gln2045Glu) c.6202C>G (p.Gln2068Glu) c.5830C>G (p.Gln1944Glu) c.5986C>G (p.Gln1996Glu) c.6193C>G (p.Gln2065Glu) c.5494C>G (p.Gln1832Glu) c.6241C>G (p.Gln2081Glu)	dbSNP
16	g.3728800G>T	CA394553812	CREBBP	c.6247C>A (p.Gln2083Lys) c.6133C>A (p.Gln2045Lys) c.6202C>A (p.Gln2068Lys) c.5830C>A (p.Gln1944Lys) c.5986C>A (p.Gln1996Lys) c.6193C>A (p.Gln2065Lys) c.5494C>A (p.Gln1832Lys) c.6241C>A (p.Gln2081Lys)
16	g.3728801C>A	CA394553813	CREBBP	c.6246G>T (p.Gln2082His) c.6132G>T (p.Gln2044His) c.6201G>T (p.Gln2067His) c.5829G>T (p.Gln1943His) c.5985G>T (p.Gln1995His) c.6192G>T (p.Gln2064His) c.5493G>T (p.Gln1831His) c.6240G>T (p.Gln2080His)	dbSNP
16	g.3728801C=	CA2202928855	CREBBP	c.6246G= (p.Gln2082=) c.6132G= (p.Gln2044=) c.6201G= (p.Gln2067=) c.5829G= (p.Gln1943=) c.5985G= (p.Gln1995=) c.6192G= (p.Gln2064=) c.5493G= (p.Gln1831=) c.6240G= (p.Gln2080=)
16	g.3728801C>G	CA394553814	CREBBP	c.6246G>C (p.Gln2082His) c.6132G>C (p.Gln2044His) c.6201G>C (p.Gln2067His) c.5829G>C (p.Gln1943His) c.5985G>C (p.Gln1995His) c.6192G>C (p.Gln2064His) c.5493G>C (p.Gln1831His) c.6240G>C (p.Gln2080His)	dbSNP
16	g.3728801C>T	CA493393673	CREBBP	c.6246G>A (p.Gln2082=) c.6132G>A (p.Gln2044=) c.6201G>A (p.Gln2067=) c.5829G>A (p.Gln1943=) c.5985G>A (p.Gln1995=) c.6192G>A (p.Gln2064=) c.5493G>A (p.Gln1831=) c.6240G>A (p.Gln2080=)	dbSNP gnomAD v2
16	g.3728802T>A	CA394553817	CREBBP	c.6245A>T (p.Gln2082Leu) c.6131A>T (p.Gln2044Leu) c.6200A>T (p.Gln2067Leu) c.5828A>T (p.Gln1943Leu) c.5984A>T (p.Gln1995Leu) c.6191A>T (p.Gln2064Leu) c.5492A>T (p.Gln1831Leu) c.6239A>T (p.Gln2080Leu)	dbSNP
16	g.3728802T>C	CA394553815	CREBBP	c.6245A>G (p.Gln2082Arg) c.6131A>G (p.Gln2044Arg) c.6200A>G (p.Gln2067Arg) c.5828A>G (p.Gln1943Arg) c.5984A>G (p.Gln1995Arg) c.6191A>G (p.Gln2064Arg) c.5492A>G (p.Gln1831Arg) c.6239A>G (p.Gln2080Arg)	gnomAD v4
16	g.3728802T>G	CA394553816	CREBBP	c.6245A>C (p.Gln2082Pro) c.6131A>C (p.Gln2044Pro) c.6200A>C (p.Gln2067Pro) c.5828A>C (p.Gln1943Pro) c.5984A>C (p.Gln1995Pro) c.6191A>C (p.Gln2064Pro) c.5492A>C (p.Gln1831Pro) c.6239A>C (p.Gln2080Pro)
16	g.3728803G>A	CA16043513	CREBBP	c.6244C>T (p.Gln2082Ter) c.6130C>T (p.Gln2044Ter) c.6199C>T (p.Gln2067Ter) c.5827C>T (p.Gln1943Ter) c.5983C>T (p.Gln1995Ter) c.6190C>T (p.Gln2064Ter) c.5491C>T (p.Gln1831Ter) c.6238C>T (p.Gln2080Ter)	ClinVar dbSNP
16	g.3728803G>C	CA394553818	CREBBP	c.6244C>G (p.Gln2082Glu) c.6130C>G (p.Gln2044Glu) c.6199C>G (p.Gln2067Glu) c.5827C>G (p.Gln1943Glu) c.5983C>G (p.Gln1995Glu) c.6190C>G (p.Gln2064Glu) c.5491C>G (p.Gln1831Glu) c.6238C>G (p.Gln2080Glu)	dbSNP
16	g.3728803G=	CA2202928856	CREBBP	c.6244C= (p.Gln2082=) c.6130C= (p.Gln2044=) c.6199C= (p.Gln2067=) c.5827C= (p.Gln1943=) c.5983C= (p.Gln1995=) c.6190C= (p.Gln2064=) c.5491C= (p.Gln1831=) c.6238C= (p.Gln2080=)
16	g.3728803G>T	CA394553819	CREBBP	c.6244C>A (p.Gln2082Lys) c.6130C>A (p.Gln2044Lys) c.6199C>A (p.Gln2067Lys) c.5827C>A (p.Gln1943Lys) c.5983C>A (p.Gln1995Lys) c.6190C>A (p.Gln2064Lys) c.5491C>A (p.Gln1831Lys) c.6238C>A (p.Gln2080Lys)	dbSNP
16	g.3728804C>A	CA394553820	CREBBP	c.6243G>T (p.Gln2081His) c.6129G>T (p.Gln2043His) c.6198G>T (p.Gln2066His) c.5826G>T (p.Gln1942His) c.5982G>T (p.Gln1994His) c.6189G>T (p.Gln2063His) c.5490G>T (p.Gln1830His) c.6237G>T (p.Gln2079His)	dbSNP
16	g.3728804C>G	CA394553821	CREBBP	c.6243G>C (p.Gln2081His) c.6129G>C (p.Gln2043His) c.6198G>C (p.Gln2066His) c.5826G>C (p.Gln1942His) c.5982G>C (p.Gln1994His) c.6189G>C (p.Gln2063His) c.5490G>C (p.Gln1830His) c.6237G>C (p.Gln2079His)	dbSNP
16	g.3728804C>T	CA493393674	CREBBP	c.6243G>A (p.Gln2081=) c.6129G>A (p.Gln2043=) c.6198G>A (p.Gln2066=) c.5826G>A (p.Gln1942=) c.5982G>A (p.Gln1994=) c.6189G>A (p.Gln2063=) c.5490G>A (p.Gln1830=) c.6237G>A (p.Gln2079=)	dbSNP
16	g.3728805T>A	CA394553822	CREBBP	c.6242A>T (p.Gln2081Leu) c.6128A>T (p.Gln2043Leu) c.6197A>T (p.Gln2066Leu) c.5825A>T (p.Gln1942Leu) c.5981A>T (p.Gln1994Leu) c.6188A>T (p.Gln2063Leu) c.5489A>T (p.Gln1830Leu) c.6236A>T (p.Gln2079Leu)	dbSNP
16	g.3728805T>C	CA394553823	CREBBP	c.6242A>G (p.Gln2081Arg) c.6128A>G (p.Gln2043Arg) c.6197A>G (p.Gln2066Arg) c.5825A>G (p.Gln1942Arg) c.5981A>G (p.Gln1994Arg) c.6188A>G (p.Gln2063Arg) c.5489A>G (p.Gln1830Arg) c.6236A>G (p.Gln2079Arg)	dbSNP
16	g.3728805T>G	CA394553824	CREBBP	c.6242A>C (p.Gln2081Pro) c.6128A>C (p.Gln2043Pro) c.6197A>C (p.Gln2066Pro) c.5825A>C (p.Gln1942Pro) c.5981A>C (p.Gln1994Pro) c.6188A>C (p.Gln2063Pro) c.5489A>C (p.Gln1830Pro) c.6236A>C (p.Gln2079Pro)
16	g.3728806G>A	CA10603392	CREBBP	c.6241C>T (p.Gln2081Ter) c.6127C>T (p.Gln2043Ter) c.6196C>T (p.Gln2066Ter) c.5824C>T (p.Gln1942Ter) c.5980C>T (p.Gln1994Ter) c.6187C>T (p.Gln2063Ter) c.5488C>T (p.Gln1830Ter) c.6235C>T (p.Gln2079Ter)	ClinVar dbSNP
16	g.3728806G>C	CA394553825	CREBBP	c.6241C>G (p.Gln2081Glu) c.6127C>G (p.Gln2043Glu) c.6196C>G (p.Gln2066Glu) c.5824C>G (p.Gln1942Glu) c.5980C>G (p.Gln1994Glu) c.6187C>G (p.Gln2063Glu) c.5488C>G (p.Gln1830Glu) c.6235C>G (p.Gln2079Glu)	dbSNP
16	g.3728806G=	CA2202928857	CREBBP	c.6241C= (p.Gln2081=) c.6127C= (p.Gln2043=) c.6196C= (p.Gln2066=) c.5824C= (p.Gln1942=) c.5980C= (p.Gln1994=) c.6187C= (p.Gln2063=) c.5488C= (p.Gln1830=) c.6235C= (p.Gln2079=)
16	g.3728806G>T	CA394553826	CREBBP	c.6241C>A (p.Gln2081Lys) c.6127C>A (p.Gln2043Lys) c.6196C>A (p.Gln2066Lys) c.5824C>A (p.Gln1942Lys) c.5980C>A (p.Gln1994Lys) c.6187C>A (p.Gln2063Lys) c.5488C>A (p.Gln1830Lys) c.6235C>A (p.Gln2079Lys)
16	g.3728807A>C	CA493393675	CREBBP	c.6240T>G (p.Pro2080=) c.6126T>G (p.Pro2042=) c.6195T>G (p.Pro2065=) c.5823T>G (p.Pro1941=) c.5979T>G (p.Pro1993=) c.6186T>G (p.Pro2062=) c.5487T>G (p.Pro1829=) c.6234T>G (p.Pro2078=)
16	g.3728807A>G	CA493393676	CREBBP	c.6240T>C (p.Pro2080=) c.6126T>C (p.Pro2042=) c.6195T>C (p.Pro2065=) c.5823T>C (p.Pro1941=) c.5979T>C (p.Pro1993=) c.6186T>C (p.Pro2062=) c.5487T>C (p.Pro1829=) c.6234T>C (p.Pro2078=)	gnomAD v4
16	g.3728807A>T	CA493393677	CREBBP	c.6240T>A (p.Pro2080=) c.6126T>A (p.Pro2042=) c.6195T>A (p.Pro2065=) c.5823T>A (p.Pro1941=) c.5979T>A (p.Pro1993=) c.6186T>A (p.Pro2062=) c.5487T>A (p.Pro1829=) c.6234T>A (p.Pro2078=)	gnomAD v4
16	g.3728808G>A	CA394553827	CREBBP	c.6239C>T (p.Pro2080Leu) c.6125C>T (p.Pro2042Leu) c.6194C>T (p.Pro2065Leu) c.5822C>T (p.Pro1941Leu) c.5978C>T (p.Pro1993Leu) c.6185C>T (p.Pro2062Leu) c.5486C>T (p.Pro1829Leu) c.6233C>T (p.Pro2078Leu)	dbSNP gnomAD v4
16	g.3728808G>C	CA394553829	CREBBP	c.6239C>G (p.Pro2080Arg) c.6125C>G (p.Pro2042Arg) c.6194C>G (p.Pro2065Arg) c.5822C>G (p.Pro1941Arg) c.5978C>G (p.Pro1993Arg) c.6185C>G (p.Pro2062Arg) c.5486C>G (p.Pro1829Arg) c.6233C>G (p.Pro2078Arg)
16	g.3728808G>T	CA394553828	CREBBP	c.6239C>A (p.Pro2080His) c.6125C>A (p.Pro2042His) c.6194C>A (p.Pro2065His) c.5822C>A (p.Pro1941His) c.5978C>A (p.Pro1993His) c.6185C>A (p.Pro2062His) c.5486C>A (p.Pro1829His) c.6233C>A (p.Pro2078His)	dbSNP
16	g.3728810_3728811del	CA2580091133	CREBBP	c.6238_6239del (p.Pro2080SerfsTer?) c.6124_6125del (p.Pro2042SerfsTer?) c.6193_6194del (p.Pro2065SerfsTer?) c.5821_5822del (p.Pro1941SerfsTer?) c.5977_5978del (p.Pro1993SerfsTer?) c.6184_6185del (p.Pro2062SerfsTer?) c.5485_5486del (p.Pro1829SerfsTer?) c.6232_6233del (p.Pro2078SerfsTer?)	ClinVar
16	g.3728809G>A	CA394553830	CREBBP	c.6238C>T (p.Pro2080Ser) c.6124C>T (p.Pro2042Ser) c.6193C>T (p.Pro2065Ser) c.5821C>T (p.Pro1941Ser) c.5977C>T (p.Pro1993Ser) c.6184C>T (p.Pro2062Ser) c.5485C>T (p.Pro1829Ser) c.6232C>T (p.Pro2078Ser)	dbSNP
16	g.3728809G>C	CA394553832	CREBBP	c.6238C>G (p.Pro2080Ala) c.6124C>G (p.Pro2042Ala) c.6193C>G (p.Pro2065Ala) c.5821C>G (p.Pro1941Ala) c.5977C>G (p.Pro1993Ala) c.6184C>G (p.Pro2062Ala) c.5485C>G (p.Pro1829Ala) c.6232C>G (p.Pro2078Ala)	dbSNP
16	g.3728809G=	CA2202928858	CREBBP	c.6238C= (p.Pro2080=) c.6124C= (p.Pro2042=) c.6193C= (p.Pro2065=) c.5821C= (p.Pro1941=) c.5977C= (p.Pro1993=) c.6184C= (p.Pro2062=) c.5485C= (p.Pro1829=) c.6232C= (p.Pro2078=)
16	g.3728809G>T	CA394553831	CREBBP	c.6238C>A (p.Pro2080Thr) c.6124C>A (p.Pro2042Thr) c.6193C>A (p.Pro2065Thr) c.5821C>A (p.Pro1941Thr) c.5977C>A (p.Pro1993Thr) c.6184C>A (p.Pro2062Thr) c.5485C>A (p.Pro1829Thr) c.6232C>A (p.Pro2078Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.3728810G>A	CA493393678	CREBBP	c.6237C>T (p.Ser2079=) c.6123C>T (p.Ser2041=) c.6192C>T (p.Ser2064=) c.5820C>T (p.Ser1940=) c.5976C>T (p.Ser1992=) c.6183C>T (p.Ser2061=) c.5484C>T (p.Ser1828=) c.6231C>T (p.Ser2077=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.3728810G>C	CA493393679	CREBBP	c.6237C>G (p.Ser2079=) c.6123C>G (p.Ser2041=) c.6192C>G (p.Ser2064=) c.5820C>G (p.Ser1940=) c.5976C>G (p.Ser1992=) c.6183C>G (p.Ser2061=) c.5484C>G (p.Ser1828=) c.6231C>G (p.Ser2077=)	dbSNP
16	g.3728810G=	CA2202928859	CREBBP	c.6237C= (p.Ser2079=) c.6123C= (p.Ser2041=) c.6192C= (p.Ser2064=) c.5820C= (p.Ser1940=) c.5976C= (p.Ser1992=) c.6183C= (p.Ser2061=) c.5484C= (p.Ser1828=) c.6231C= (p.Ser2077=)
16	g.3728810G>T	CA7869153	CREBBP	c.6237C>A (p.Ser2079=) c.6123C>A (p.Ser2041=) c.6192C>A (p.Ser2064=) c.5820C>A (p.Ser1940=) c.5976C>A (p.Ser1992=) c.6183C>A (p.Ser2061=) c.5484C>A (p.Ser1828=) c.6231C>A (p.Ser2077=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728811G>A	CA394553834	CREBBP	c.6236C>T (p.Ser2079Phe) c.6122C>T (p.Ser2041Phe) c.6191C>T (p.Ser2064Phe) c.5819C>T (p.Ser1940Phe) c.5975C>T (p.Ser1992Phe) c.6182C>T (p.Ser2061Phe) c.5483C>T (p.Ser1828Phe) c.6230C>T (p.Ser2077Phe)	dbSNP
16	g.3728811G>C	CA394553833	CREBBP	c.6236C>G (p.Ser2079Cys) c.6122C>G (p.Ser2041Cys) c.6191C>G (p.Ser2064Cys) c.5819C>G (p.Ser1940Cys) c.5975C>G (p.Ser1992Cys) c.6182C>G (p.Ser2061Cys) c.5483C>G (p.Ser1828Cys) c.6230C>G (p.Ser2077Cys)	dbSNP
16	g.3728811G>T	CA394553835	CREBBP	c.6236C>A (p.Ser2079Tyr) c.6122C>A (p.Ser2041Tyr) c.6191C>A (p.Ser2064Tyr) c.5819C>A (p.Ser1940Tyr) c.5975C>A (p.Ser1992Tyr) c.6182C>A (p.Ser2061Tyr) c.5483C>A (p.Ser1828Tyr) c.6230C>A (p.Ser2077Tyr)	dbSNP gnomAD v4
16	g.3728812A>C	CA394553836	CREBBP	c.6235T>G (p.Ser2079Ala) c.6121T>G (p.Ser2041Ala) c.6190T>G (p.Ser2064Ala) c.5818T>G (p.Ser1940Ala) c.5974T>G (p.Ser1992Ala) c.6181T>G (p.Ser2061Ala) c.5482T>G (p.Ser1828Ala) c.6229T>G (p.Ser2077Ala)	gnomAD v4
16	g.3728812A>G	CA394553838	CREBBP	c.6235T>C (p.Ser2079Pro) c.6121T>C (p.Ser2041Pro) c.6190T>C (p.Ser2064Pro) c.5818T>C (p.Ser1940Pro) c.5974T>C (p.Ser1992Pro) c.6181T>C (p.Ser2061Pro) c.5482T>C (p.Ser1828Pro) c.6229T>C (p.Ser2077Pro)
16	g.3728812A>T	CA394553837	CREBBP	c.6235T>A (p.Ser2079Thr) c.6121T>A (p.Ser2041Thr) c.6190T>A (p.Ser2064Thr) c.5818T>A (p.Ser1940Thr) c.5974T>A (p.Ser1992Thr) c.6181T>A (p.Ser2061Thr) c.5482T>A (p.Ser1828Thr) c.6229T>A (p.Ser2077Thr)	dbSNP
16	g.3728813G>A	CA276971719	CREBBP	c.6234C>T (p.Ser2078=) c.6120C>T (p.Ser2040=) c.6189C>T (p.Ser2063=) c.5817C>T (p.Ser1939=) c.5973C>T (p.Ser1991=) c.6180C>T (p.Ser2060=) c.5481C>T (p.Ser1827=) c.6228C>T (p.Ser2076=)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3728813G>C	CA394553840	CREBBP	c.6234C>G (p.Ser2078Arg) c.6120C>G (p.Ser2040Arg) c.6189C>G (p.Ser2063Arg) c.5817C>G (p.Ser1939Arg) c.5973C>G (p.Ser1991Arg) c.6180C>G (p.Ser2060Arg) c.5481C>G (p.Ser1827Arg) c.6228C>G (p.Ser2076Arg)	dbSNP
16	g.3728813G=	CA2202928860	CREBBP	c.6234C= (p.Ser2078=) c.6120C= (p.Ser2040=) c.6189C= (p.Ser2063=) c.5817C= (p.Ser1939=) c.5973C= (p.Ser1991=) c.6180C= (p.Ser2060=) c.5481C= (p.Ser1827=) c.6228C= (p.Ser2076=)
16	g.3728813G>T	CA394553839	CREBBP	c.6234C>A (p.Ser2078Arg) c.6120C>A (p.Ser2040Arg) c.6189C>A (p.Ser2063Arg) c.5817C>A (p.Ser1939Arg) c.5973C>A (p.Ser1991Arg) c.6180C>A (p.Ser2060Arg) c.5481C>A (p.Ser1827Arg) c.6228C>A (p.Ser2076Arg)	dbSNP
16	g.3728814C>A	CA394553841	CREBBP	c.6233G>T (p.Ser2078Ile) c.6119G>T (p.Ser2040Ile) c.6188G>T (p.Ser2063Ile) c.5816G>T (p.Ser1939Ile) c.5972G>T (p.Ser1991Ile) c.6179G>T (p.Ser2060Ile) c.5480G>T (p.Ser1827Ile) c.6227G>T (p.Ser2076Ile)	dbSNP
16	g.3728814C>G	CA394553843	CREBBP	c.6233G>C (p.Ser2078Thr) c.6119G>C (p.Ser2040Thr) c.6188G>C (p.Ser2063Thr) c.5816G>C (p.Ser1939Thr) c.5972G>C (p.Ser1991Thr) c.6179G>C (p.Ser2060Thr) c.5480G>C (p.Ser1827Thr) c.6227G>C (p.Ser2076Thr)	dbSNP
16	g.3728814C>T	CA394553842	CREBBP	c.6233G>A (p.Ser2078Asn) c.6119G>A (p.Ser2040Asn) c.6188G>A (p.Ser2063Asn) c.5816G>A (p.Ser1939Asn) c.5972G>A (p.Ser1991Asn) c.6179G>A (p.Ser2060Asn) c.5480G>A (p.Ser1827Asn) c.6227G>A (p.Ser2076Asn)	dbSNP
16	g.3728815T>A	CA394553844	CREBBP	c.6232A>T (p.Ser2078Cys) c.6118A>T (p.Ser2040Cys) c.6187A>T (p.Ser2063Cys) c.5815A>T (p.Ser1939Cys) c.5971A>T (p.Ser1991Cys) c.6178A>T (p.Ser2060Cys) c.5479A>T (p.Ser1827Cys) c.6226A>T (p.Ser2076Cys)
16	g.3728815T>C	CA394553845	CREBBP	c.6232A>G (p.Ser2078Gly) c.6118A>G (p.Ser2040Gly) c.6187A>G (p.Ser2063Gly) c.5815A>G (p.Ser1939Gly) c.5971A>G (p.Ser1991Gly) c.6178A>G (p.Ser2060Gly) c.5479A>G (p.Ser1827Gly) c.6226A>G (p.Ser2076Gly)
16	g.3728815T>G	CA394553846	CREBBP	c.6232A>C (p.Ser2078Arg) c.6118A>C (p.Ser2040Arg) c.6187A>C (p.Ser2063Arg) c.5815A>C (p.Ser1939Arg) c.5971A>C (p.Ser1991Arg) c.6178A>C (p.Ser2060Arg) c.5479A>C (p.Ser1827Arg) c.6226A>C (p.Ser2076Arg)
16	g.3728816G>A	CA493393682	CREBBP	c.6231C>T (p.Pro2077=) c.6117C>T (p.Pro2039=) c.6186C>T (p.Pro2062=) c.5814C>T (p.Pro1938=) c.5970C>T (p.Pro1990=) c.6177C>T (p.Pro2059=) c.5478C>T (p.Pro1826=) c.6225C>T (p.Pro2075=)	dbSNP gnomAD v4
16	g.3728816G>C	CA493393681	CREBBP	c.6231C>G (p.Pro2077=) c.6117C>G (p.Pro2039=) c.6186C>G (p.Pro2062=) c.5814C>G (p.Pro1938=) c.5970C>G (p.Pro1990=) c.6177C>G (p.Pro2059=) c.5478C>G (p.Pro1826=) c.6225C>G (p.Pro2075=)	dbSNP
16	g.3728816G>T	CA493393680	CREBBP	c.6231C>A (p.Pro2077=) c.6117C>A (p.Pro2039=) c.6186C>A (p.Pro2062=) c.5814C>A (p.Pro1938=) c.5970C>A (p.Pro1990=) c.6177C>A (p.Pro2059=) c.5478C>A (p.Pro1826=) c.6225C>A (p.Pro2075=)
16	g.3728818del	CA2731850401	CREBBP	c.6231del (p.Ser2078AlafsTer10) c.6117del (p.Ser2040AlafsTer10) c.6186del (p.Ser2063AlafsTer10) c.5814del (p.Ser1939AlafsTer10) c.5970del (p.Ser1991AlafsTer10) c.6177del (p.Ser2060AlafsTer10) c.5478del (p.Ser1827AlafsTer10) c.6225del (p.Ser2076AlafsTer10)	dbSNP
16	g.3728816_3728826delinsGGGCGACTTCA	CA2202928861	CREBBP	c.6221_6231delinsTGAAGTCGCCC (p.Leu2074=) c.6107_6117delinsTGAAGTCGCCC (p.Leu2036=) c.6176_6186delinsTGAAGTCGCCC (p.Leu2059=) c.5804_5814delinsTGAAGTCGCCC (p.Leu1935=) c.5960_5970delinsTGAAGTCGCCC (p.Leu1987=) c.6167_6177delinsTGAAGTCGCCC (p.Leu2056=) c.5468_5478delinsTGAAGTCGCCC (p.Leu1823=) c.6215_6225delinsTGAAGTCGCCC (p.Leu2072=)
16	g.3728817G>A	CA394553847	CREBBP	c.6230C>T (p.Pro2077Leu) c.6116C>T (p.Pro2039Leu) c.6185C>T (p.Pro2062Leu) c.5813C>T (p.Pro1938Leu) c.5969C>T (p.Pro1990Leu) c.6176C>T (p.Pro2059Leu) c.5477C>T (p.Pro1826Leu) c.6224C>T (p.Pro2075Leu)	dbSNP
16	g.3728817G>C	CA394553848	CREBBP	c.6230C>G (p.Pro2077Arg) c.6116C>G (p.Pro2039Arg) c.6185C>G (p.Pro2062Arg) c.5813C>G (p.Pro1938Arg) c.5969C>G (p.Pro1990Arg) c.6176C>G (p.Pro2059Arg) c.5477C>G (p.Pro1826Arg) c.6224C>G (p.Pro2075Arg)	dbSNP
16	g.3728817G>T	CA394553849	CREBBP	c.6230C>A (p.Pro2077His) c.6116C>A (p.Pro2039His) c.6185C>A (p.Pro2062His) c.5813C>A (p.Pro1938His) c.5969C>A (p.Pro1990His) c.6176C>A (p.Pro2059His) c.5477C>A (p.Pro1826His) c.6224C>A (p.Pro2075His)	dbSNP
16	g.3728819_3728828del	CA915949061	CREBBP	c.6221_6230del (p.Leu2074ProfsTer11) c.6107_6116del (p.Leu2036ProfsTer11) c.6176_6185del (p.Leu2059ProfsTer11) c.5804_5813del (p.Leu1935ProfsTer11) c.5960_5969del (p.Leu1987ProfsTer11) c.6167_6176del (p.Leu2056ProfsTer11) c.5468_5477del (p.Leu1823ProfsTer11) c.6215_6224del (p.Leu2072ProfsTer11)	ClinVar dbSNP
16	g.3728818G>A	CA394553850	CREBBP	c.6229C>T (p.Pro2077Ser) c.6115C>T (p.Pro2039Ser) c.6184C>T (p.Pro2062Ser) c.5812C>T (p.Pro1938Ser) c.5968C>T (p.Pro1990Ser) c.6175C>T (p.Pro2059Ser) c.5476C>T (p.Pro1826Ser) c.6223C>T (p.Pro2075Ser)	ClinVar dbSNP
16	g.3728818G>C	CA394553851	CREBBP	c.6229C>G (p.Pro2077Ala) c.6115C>G (p.Pro2039Ala) c.6184C>G (p.Pro2062Ala) c.5812C>G (p.Pro1938Ala) c.5968C>G (p.Pro1990Ala) c.6175C>G (p.Pro2059Ala) c.5476C>G (p.Pro1826Ala) c.6223C>G (p.Pro2075Ala)	dbSNP
16	g.3728818G=	CA2202928862	CREBBP	c.6229C= (p.Pro2077=) c.6115C= (p.Pro2039=) c.6184C= (p.Pro2062=) c.5812C= (p.Pro1938=) c.5968C= (p.Pro1990=) c.6175C= (p.Pro2059=) c.5476C= (p.Pro1826=) c.6223C= (p.Pro2075=)
16	g.3728818G>T	CA394553852	CREBBP	c.6229C>A (p.Pro2077Thr) c.6115C>A (p.Pro2039Thr) c.6184C>A (p.Pro2062Thr) c.5812C>A (p.Pro1938Thr) c.5968C>A (p.Pro1990Thr) c.6175C>A (p.Pro2059Thr) c.5476C>A (p.Pro1826Thr) c.6223C>A (p.Pro2075Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.3728819C>A	CA7869155	CREBBP	c.6228G>T (p.Ser2076=) c.6114G>T (p.Ser2038=) c.6183G>T (p.Ser2061=) c.5811G>T (p.Ser1937=) c.5967G>T (p.Ser1989=) c.6174G>T (p.Ser2058=) c.5475G>T (p.Ser1825=) c.6222G>T (p.Ser2074=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728819C=	CA2202928863	CREBBP	c.6228G= (p.Ser2076=) c.6114G= (p.Ser2038=) c.6183G= (p.Ser2061=) c.5811G= (p.Ser1937=) c.5967G= (p.Ser1989=) c.6174G= (p.Ser2058=) c.5475G= (p.Ser1825=) c.6222G= (p.Ser2074=)
16	g.3728819C>G	CA493393683	CREBBP	c.6228G>C (p.Ser2076=) c.6114G>C (p.Ser2038=) c.6183G>C (p.Ser2061=) c.5811G>C (p.Ser1937=) c.5967G>C (p.Ser1989=) c.6174G>C (p.Ser2058=) c.5475G>C (p.Ser1825=) c.6222G>C (p.Ser2074=)	dbSNP
16	g.3728819C>T	CA7869154	CREBBP	c.6228G>A (p.Ser2076=) c.6114G>A (p.Ser2038=) c.6183G>A (p.Ser2061=) c.5811G>A (p.Ser1937=) c.5967G>A (p.Ser1989=) c.6174G>A (p.Ser2058=) c.5475G>A (p.Ser1825=) c.6222G>A (p.Ser2074=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728820G>A	CA394553855	CREBBP	c.6227C>T (p.Ser2076Leu) c.6113C>T (p.Ser2038Leu) c.6182C>T (p.Ser2061Leu) c.5810C>T (p.Ser1937Leu) c.5966C>T (p.Ser1989Leu) c.6173C>T (p.Ser2058Leu) c.5474C>T (p.Ser1825Leu) c.6221C>T (p.Ser2074Leu)	dbSNP gnomAD v4 COSMIC
16	g.3728820G>C	CA394553854	CREBBP	c.6227C>G (p.Ser2076Trp) c.6113C>G (p.Ser2038Trp) c.6182C>G (p.Ser2061Trp) c.5810C>G (p.Ser1937Trp) c.5966C>G (p.Ser1989Trp) c.6173C>G (p.Ser2058Trp) c.5474C>G (p.Ser1825Trp) c.6221C>G (p.Ser2074Trp)	dbSNP
16	g.3728820G>T	CA394553853	CREBBP	c.6227C>A (p.Ser2076Ter) c.6113C>A (p.Ser2038Ter) c.6182C>A (p.Ser2061Ter) c.5810C>A (p.Ser1937Ter) c.5966C>A (p.Ser1989Ter) c.6173C>A (p.Ser2058Ter) c.5474C>A (p.Ser1825Ter) c.6221C>A (p.Ser2074Ter)	ClinVar gnomAD v4
16	g.3728821A>C	CA394553856	CREBBP	c.6226T>G (p.Ser2076Ala) c.6112T>G (p.Ser2038Ala) c.6181T>G (p.Ser2061Ala) c.5809T>G (p.Ser1937Ala) c.5965T>G (p.Ser1989Ala) c.6172T>G (p.Ser2058Ala) c.5473T>G (p.Ser1825Ala) c.6220T>G (p.Ser2074Ala)	dbSNP
16	g.3728821A>G	CA394553857	CREBBP	c.6226T>C (p.Ser2076Pro) c.6112T>C (p.Ser2038Pro) c.6181T>C (p.Ser2061Pro) c.5809T>C (p.Ser1937Pro) c.5965T>C (p.Ser1989Pro) c.6172T>C (p.Ser2058Pro) c.5473T>C (p.Ser1825Pro) c.6220T>C (p.Ser2074Pro)	dbSNP
16	g.3728821A>T	CA394553858	CREBBP	c.6226T>A (p.Ser2076Thr) c.6112T>A (p.Ser2038Thr) c.6181T>A (p.Ser2061Thr) c.5809T>A (p.Ser1937Thr) c.5965T>A (p.Ser1989Thr) c.6172T>A (p.Ser2058Thr) c.5473T>A (p.Ser1825Thr) c.6220T>A (p.Ser2074Thr)	dbSNP
16	g.3728822C>A	CA394553859	CREBBP	c.6225G>T (p.Lys2075Asn) c.6111G>T (p.Lys2037Asn) c.6180G>T (p.Lys2060Asn) c.5808G>T (p.Lys1936Asn) c.5964G>T (p.Lys1988Asn) c.6171G>T (p.Lys2057Asn) c.5472G>T (p.Lys1824Asn) c.6219G>T (p.Lys2073Asn)	dbSNP
16	g.3728822C>G	CA394553860	CREBBP	c.6225G>C (p.Lys2075Asn) c.6111G>C (p.Lys2037Asn) c.6180G>C (p.Lys2060Asn) c.5808G>C (p.Lys1936Asn) c.5964G>C (p.Lys1988Asn) c.6171G>C (p.Lys2057Asn) c.5472G>C (p.Lys1824Asn) c.6219G>C (p.Lys2073Asn)	dbSNP
16	g.3728822C>T	CA493393684	CREBBP	c.6225G>A (p.Lys2075=) c.6111G>A (p.Lys2037=) c.6180G>A (p.Lys2060=) c.5808G>A (p.Lys1936=) c.5964G>A (p.Lys1988=) c.6171G>A (p.Lys2057=) c.5472G>A (p.Lys1824=) c.6219G>A (p.Lys2073=)	dbSNP
16	g.3728823T>A	CA394553861	CREBBP	c.6224A>T (p.Lys2075Met) c.6110A>T (p.Lys2037Met) c.6179A>T (p.Lys2060Met) c.5807A>T (p.Lys1936Met) c.5963A>T (p.Lys1988Met) c.6170A>T (p.Lys2057Met) c.5471A>T (p.Lys1824Met) c.6218A>T (p.Lys2073Met)
16	g.3728823T>C	CA394553862	CREBBP	c.6224A>G (p.Lys2075Arg) c.6110A>G (p.Lys2037Arg) c.6179A>G (p.Lys2060Arg) c.5807A>G (p.Lys1936Arg) c.5963A>G (p.Lys1988Arg) c.6170A>G (p.Lys2057Arg) c.5471A>G (p.Lys1824Arg) c.6218A>G (p.Lys2073Arg)
16	g.3728823T>G	CA394553863	CREBBP	c.6224A>C (p.Lys2075Thr) c.6110A>C (p.Lys2037Thr) c.6179A>C (p.Lys2060Thr) c.5807A>C (p.Lys1936Thr) c.5963A>C (p.Lys1988Thr) c.6170A>C (p.Lys2057Thr) c.5471A>C (p.Lys1824Thr) c.6218A>C (p.Lys2073Thr)
16	g.3728823_3728824insA	CA2695222738	CREBBP	c.6223_6224insT (p.Lys2075IlefsTer?) c.6109_6110insT (p.Lys2037IlefsTer?) c.6178_6179insT (p.Lys2060IlefsTer?) c.5806_5807insT (p.Lys1936IlefsTer?) c.5962_5963insT (p.Lys1988IlefsTer?) c.6169_6170insT (p.Lys2057IlefsTer?) c.5470_5471insT (p.Lys1824IlefsTer?) c.6217_6218insT (p.Lys2073IlefsTer?)
16	g.3728824T>A	CA394553864	CREBBP	c.6223A>T (p.Lys2075Ter) c.6109A>T (p.Lys2037Ter) c.6178A>T (p.Lys2060Ter) c.5806A>T (p.Lys1936Ter) c.5962A>T (p.Lys1988Ter) c.6169A>T (p.Lys2057Ter) c.5470A>T (p.Lys1824Ter) c.6217A>T (p.Lys2073Ter)	dbSNP
16	g.3728824T>C	CA394553865	CREBBP	c.6223A>G (p.Lys2075Glu) c.6109A>G (p.Lys2037Glu) c.6178A>G (p.Lys2060Glu) c.5806A>G (p.Lys1936Glu) c.5962A>G (p.Lys1988Glu) c.6169A>G (p.Lys2057Glu) c.5470A>G (p.Lys1824Glu) c.6217A>G (p.Lys2073Glu)	dbSNP
16	g.3728824T>G	CA394553866	CREBBP	c.6223A>C (p.Lys2075Gln) c.6109A>C (p.Lys2037Gln) c.6178A>C (p.Lys2060Gln) c.5806A>C (p.Lys1936Gln) c.5962A>C (p.Lys1988Gln) c.6169A>C (p.Lys2057Gln) c.5470A>C (p.Lys1824Gln) c.6217A>C (p.Lys2073Gln)	dbSNP
16	g.3728825C>A	CA493393685	CREBBP	c.6222G>T (p.Leu2074=) c.6108G>T (p.Leu2036=) c.6177G>T (p.Leu2059=) c.5805G>T (p.Leu1935=) c.5961G>T (p.Leu1987=) c.6168G>T (p.Leu2056=) c.5469G>T (p.Leu1823=) c.6216G>T (p.Leu2072=)	dbSNP
16	g.3728825C>G	CA493393686	CREBBP	c.6222G>C (p.Leu2074=) c.6108G>C (p.Leu2036=) c.6177G>C (p.Leu2059=) c.5805G>C (p.Leu1935=) c.5961G>C (p.Leu1987=) c.6168G>C (p.Leu2056=) c.5469G>C (p.Leu1823=) c.6216G>C (p.Leu2072=)	dbSNP
16	g.3728825C>T	CA493393687	CREBBP	c.6222G>A (p.Leu2074=) c.6108G>A (p.Leu2036=) c.6177G>A (p.Leu2059=) c.5805G>A (p.Leu1935=) c.5961G>A (p.Leu1987=) c.6168G>A (p.Leu2056=) c.5469G>A (p.Leu1823=) c.6216G>A (p.Leu2072=)	dbSNP
16	g.3728826A>C	CA394553869	CREBBP	c.6221T>G (p.Leu2074Arg) c.6107T>G (p.Leu2036Arg) c.6176T>G (p.Leu2059Arg) c.5804T>G (p.Leu1935Arg) c.5960T>G (p.Leu1987Arg) c.6167T>G (p.Leu2056Arg) c.5468T>G (p.Leu1823Arg) c.6215T>G (p.Leu2072Arg)	dbSNP
16	g.3728826A>G	CA394553868	CREBBP	c.6221T>C (p.Leu2074Pro) c.6107T>C (p.Leu2036Pro) c.6176T>C (p.Leu2059Pro) c.5804T>C (p.Leu1935Pro) c.5960T>C (p.Leu1987Pro) c.6167T>C (p.Leu2056Pro) c.5468T>C (p.Leu1823Pro) c.6215T>C (p.Leu2072Pro)	dbSNP gnomAD v4
16	g.3728826A>T	CA394553867	CREBBP	c.6221T>A (p.Leu2074Gln) c.6107T>A (p.Leu2036Gln) c.6176T>A (p.Leu2059Gln) c.5804T>A (p.Leu1935Gln) c.5960T>A (p.Leu1987Gln) c.6167T>A (p.Leu2056Gln) c.5468T>A (p.Leu1823Gln) c.6215T>A (p.Leu2072Gln)	dbSNP
16	g.3728826_3728827delinsAG	CA2202928864	CREBBP	c.6220_6221delinsCT (p.Leu2074=) c.6106_6107delinsCT (p.Leu2036=) c.6175_6176delinsCT (p.Leu2059=) c.5803_5804delinsCT (p.Leu1935=) c.5959_5960delinsCT (p.Leu1987=) c.6166_6167delinsCT (p.Leu2056=) c.5467_5468delinsCT (p.Leu1823=) c.6214_6215delinsCT (p.Leu2072=)
16	g.3728827G>A	CA7869156	CREBBP	c.6220C>T (p.Leu2074=) c.6106C>T (p.Leu2036=) c.6175C>T (p.Leu2059=) c.5803C>T (p.Leu1935=) c.5959C>T (p.Leu1987=) c.6166C>T (p.Leu2056=) c.5467C>T (p.Leu1823=) c.6214C>T (p.Leu2072=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728827G>C	CA394553870	CREBBP	c.6220C>G (p.Leu2074Val) c.6106C>G (p.Leu2036Val) c.6175C>G (p.Leu2059Val) c.5803C>G (p.Leu1935Val) c.5959C>G (p.Leu1987Val) c.6166C>G (p.Leu2056Val) c.5467C>G (p.Leu1823Val) c.6214C>G (p.Leu2072Val)	dbSNP
16	g.3728827G=	CA2202928865	CREBBP	c.6220C= (p.Leu2074=) c.6106C= (p.Leu2036=) c.6175C= (p.Leu2059=) c.5803C= (p.Leu1935=) c.5959C= (p.Leu1987=) c.6166C= (p.Leu2056=) c.5467C= (p.Leu1823=) c.6214C= (p.Leu2072=)
16	g.3728827G>T	CA394553871	CREBBP	c.6220C>A (p.Leu2074Met) c.6106C>A (p.Leu2036Met) c.6175C>A (p.Leu2059Met) c.5803C>A (p.Leu1935Met) c.5959C>A (p.Leu1987Met) c.6166C>A (p.Leu2056Met) c.5467C>A (p.Leu1823Met) c.6214C>A (p.Leu2072Met)	dbSNP gnomAD v4
16	g.3728829del	CA658798524	CREBBP	c.6220del (p.Leu2074Ter) c.6106del (p.Leu2036Ter) c.6175del (p.Leu2059Ter) c.5803del (p.Leu1935Ter) c.5959del (p.Leu1987Ter) c.6166del (p.Leu2056Ter) c.5467del (p.Leu1823Ter) c.6214del (p.Leu2072Ter)	ClinVar dbSNP
16	g.3728828G>A	CA493393689	CREBBP	c.6219C>T (p.Thr2073=) c.6105C>T (p.Thr2035=) c.6174C>T (p.Thr2058=) c.5802C>T (p.Thr1934=) c.5958C>T (p.Thr1986=) c.6165C>T (p.Thr2055=) c.5466C>T (p.Thr1822=) c.6213C>T (p.Thr2071=)	dbSNP
16	g.3728828G>C	CA493393690	CREBBP	c.6219C>G (p.Thr2073=) c.6105C>G (p.Thr2035=) c.6174C>G (p.Thr2058=) c.5802C>G (p.Thr1934=) c.5958C>G (p.Thr1986=) c.6165C>G (p.Thr2055=) c.5466C>G (p.Thr1822=) c.6213C>G (p.Thr2071=)	dbSNP
16	g.3728828G>T	CA493393691	CREBBP	c.6219C>A (p.Thr2073=) c.6105C>A (p.Thr2035=) c.6174C>A (p.Thr2058=) c.5802C>A (p.Thr1934=) c.5958C>A (p.Thr1986=) c.6165C>A (p.Thr2055=) c.5466C>A (p.Thr1822=) c.6213C>A (p.Thr2071=)	gnomAD v4
16	g.3728829G>A	CA394553872	CREBBP	c.6218C>T (p.Thr2073Ile) c.6104C>T (p.Thr2035Ile) c.6173C>T (p.Thr2058Ile) c.5801C>T (p.Thr1934Ile) c.5957C>T (p.Thr1986Ile) c.6164C>T (p.Thr2055Ile) c.5465C>T (p.Thr1822Ile) c.6212C>T (p.Thr2071Ile)	dbSNP gnomAD v4
16	g.3728829G>C	CA394553873	CREBBP	c.6218C>G (p.Thr2073Ser) c.6104C>G (p.Thr2035Ser) c.6173C>G (p.Thr2058Ser) c.5801C>G (p.Thr1934Ser) c.5957C>G (p.Thr1986Ser) c.6164C>G (p.Thr2055Ser) c.5465C>G (p.Thr1822Ser) c.6212C>G (p.Thr2071Ser)	dbSNP
16	g.3728829G>T	CA394553874	CREBBP	c.6218C>A (p.Thr2073Asn) c.6104C>A (p.Thr2035Asn) c.6173C>A (p.Thr2058Asn) c.5801C>A (p.Thr1934Asn) c.5957C>A (p.Thr1986Asn) c.6164C>A (p.Thr2055Asn) c.5465C>A (p.Thr1822Asn) c.6212C>A (p.Thr2071Asn)
16	g.3728830T>A	CA394553875	CREBBP	c.6217A>T (p.Thr2073Ser) c.6103A>T (p.Thr2035Ser) c.6172A>T (p.Thr2058Ser) c.5800A>T (p.Thr1934Ser) c.5956A>T (p.Thr1986Ser) c.6163A>T (p.Thr2055Ser) c.5464A>T (p.Thr1822Ser) c.6211A>T (p.Thr2071Ser)
16	g.3728830T>C	CA394553876	CREBBP	c.6217A>G (p.Thr2073Ala) c.6103A>G (p.Thr2035Ala) c.6172A>G (p.Thr2058Ala) c.5800A>G (p.Thr1934Ala) c.5956A>G (p.Thr1986Ala) c.6163A>G (p.Thr2055Ala) c.5464A>G (p.Thr1822Ala) c.6211A>G (p.Thr2071Ala)
16	g.3728830T>G	CA394553877	CREBBP	c.6217A>C (p.Thr2073Pro) c.6103A>C (p.Thr2035Pro) c.6172A>C (p.Thr2058Pro) c.5800A>C (p.Thr1934Pro) c.5956A>C (p.Thr1986Pro) c.6163A>C (p.Thr2055Pro) c.5464A>C (p.Thr1822Pro) c.6211A>C (p.Thr2071Pro)	dbSNP
16	g.3728831C>A	CA493393695	CREBBP	c.6216G>T (p.Arg2072=) c.6102G>T (p.Arg2034=) c.6171G>T (p.Arg2057=) c.5799G>T (p.Arg1933=) c.5955G>T (p.Arg1985=) c.6162G>T (p.Arg2054=) c.5463G>T (p.Arg1821=) c.6210G>T (p.Arg2070=)	dbSNP
16	g.3728831C=	CA2202928866	CREBBP	c.6216G= (p.Arg2072=) c.6102G= (p.Arg2034=) c.6171G= (p.Arg2057=) c.5799G= (p.Arg1933=) c.5955G= (p.Arg1985=) c.6162G= (p.Arg2054=) c.5463G= (p.Arg1821=) c.6210G= (p.Arg2070=)
16	g.3728831C>G	CA493393696	CREBBP	c.6216G>C (p.Arg2072=) c.6102G>C (p.Arg2034=) c.6171G>C (p.Arg2057=) c.5799G>C (p.Arg1933=) c.5955G>C (p.Arg1985=) c.6162G>C (p.Arg2054=) c.5463G>C (p.Arg1821=) c.6210G>C (p.Arg2070=)	dbSNP
16	g.3728831C>T	CA7869157	CREBBP	c.6216G>A (p.Arg2072=) c.6102G>A (p.Arg2034=) c.6171G>A (p.Arg2057=) c.5799G>A (p.Arg1933=) c.5955G>A (p.Arg1985=) c.6162G>A (p.Arg2054=) c.5463G>A (p.Arg1821=) c.6210G>A (p.Arg2070=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728832C>A	CA394553878	CREBBP	c.6215G>T (p.Arg2072Leu) c.6101G>T (p.Arg2034Leu) c.6170G>T (p.Arg2057Leu) c.5798G>T (p.Arg1933Leu) c.5954G>T (p.Arg1985Leu) c.6161G>T (p.Arg2054Leu) c.5462G>T (p.Arg1821Leu) c.6209G>T (p.Arg2070Leu)
16	g.3728832C=	CA2202928867	CREBBP	c.6215G= (p.Arg2072=) c.6101G= (p.Arg2034=) c.6170G= (p.Arg2057=) c.5798G= (p.Arg1933=) c.5954G= (p.Arg1985=) c.6161G= (p.Arg2054=) c.5462G= (p.Arg1821=) c.6209G= (p.Arg2070=)
16	g.3728832C>G	CA394553879	CREBBP	c.6215G>C (p.Arg2072Pro) c.6101G>C (p.Arg2034Pro) c.6170G>C (p.Arg2057Pro) c.5798G>C (p.Arg1933Pro) c.5954G>C (p.Arg1985Pro) c.6161G>C (p.Arg2054Pro) c.5462G>C (p.Arg1821Pro) c.6209G>C (p.Arg2070Pro)
16	g.3728832C>T	CA394553880	CREBBP	c.6215G>A (p.Arg2072Gln) c.6101G>A (p.Arg2034Gln) c.6170G>A (p.Arg2057Gln) c.5798G>A (p.Arg1933Gln) c.5954G>A (p.Arg1985Gln) c.6161G>A (p.Arg2054Gln) c.5462G>A (p.Arg1821Gln) c.6209G>A (p.Arg2070Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3728833G>A	CA394553881	CREBBP	c.6214C>T (p.Arg2072Trp) c.6100C>T (p.Arg2034Trp) c.6169C>T (p.Arg2057Trp) c.5797C>T (p.Arg1933Trp) c.5953C>T (p.Arg1985Trp) c.6160C>T (p.Arg2054Trp) c.5461C>T (p.Arg1821Trp) c.6208C>T (p.Arg2070Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3728833G>C	CA394553882	CREBBP	c.6214C>G (p.Arg2072Gly) c.6100C>G (p.Arg2034Gly) c.6169C>G (p.Arg2057Gly) c.5797C>G (p.Arg1933Gly) c.5953C>G (p.Arg1985Gly) c.6160C>G (p.Arg2054Gly) c.5461C>G (p.Arg1821Gly) c.6208C>G (p.Arg2070Gly)	dbSNP
16	g.3728833G=	CA2202928868	CREBBP	c.6214C= (p.Arg2072=) c.6100C= (p.Arg2034=) c.6169C= (p.Arg2057=) c.5797C= (p.Arg1933=) c.5953C= (p.Arg1985=) c.6160C= (p.Arg2054=) c.5461C= (p.Arg1821=) c.6208C= (p.Arg2070=)
16	g.3728833G>T	CA493393700	CREBBP	c.6214C>A (p.Arg2072=) c.6100C>A (p.Arg2034=) c.6169C>A (p.Arg2057=) c.5797C>A (p.Arg1933=) c.5953C>A (p.Arg1985=) c.6160C>A (p.Arg2054=) c.5461C>A (p.Arg1821=) c.6208C>A (p.Arg2070=)
16	g.3728834C>A	CA493393701	CREBBP	c.6213G>T (p.Leu2071=) c.6099G>T (p.Leu2033=) c.6168G>T (p.Leu2056=) c.5796G>T (p.Leu1932=) c.5952G>T (p.Leu1984=) c.6159G>T (p.Leu2053=) c.5460G>T (p.Leu1820=) c.6207G>T (p.Leu2069=)
16	g.3728834C=	CA2202928869	CREBBP	c.6213G= (p.Leu2071=) c.6099G= (p.Leu2033=) c.6168G= (p.Leu2056=) c.5796G= (p.Leu1932=) c.5952G= (p.Leu1984=) c.6159G= (p.Leu2053=) c.5460G= (p.Leu1820=) c.6207G= (p.Leu2069=)
16	g.3728834C>G	CA493393702	CREBBP	c.6213G>C (p.Leu2071=) c.6099G>C (p.Leu2033=) c.6168G>C (p.Leu2056=) c.5796G>C (p.Leu1932=) c.5952G>C (p.Leu1984=) c.6159G>C (p.Leu2053=) c.5460G>C (p.Leu1820=) c.6207G>C (p.Leu2069=)	dbSNP
16	g.3728834C>T	CA7869158	CREBBP	c.6213G>A (p.Leu2071=) c.6099G>A (p.Leu2033=) c.6168G>A (p.Leu2056=) c.5796G>A (p.Leu1932=) c.5952G>A (p.Leu1984=) c.6159G>A (p.Leu2053=) c.5460G>A (p.Leu1820=) c.6207G>A (p.Leu2069=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3728835A>C	CA394553883	CREBBP	c.6212T>G (p.Leu2071Arg) c.6098T>G (p.Leu2033Arg) c.6167T>G (p.Leu2056Arg) c.5795T>G (p.Leu1932Arg) c.5951T>G (p.Leu1984Arg) c.6158T>G (p.Leu2053Arg) c.5459T>G (p.Leu1820Arg) c.6206T>G (p.Leu2069Arg)
16	g.3728835A>G	CA394553884	CREBBP	c.6212T>C (p.Leu2071Pro) c.6098T>C (p.Leu2033Pro) c.6167T>C (p.Leu2056Pro) c.5795T>C (p.Leu1932Pro) c.5951T>C (p.Leu1984Pro) c.6158T>C (p.Leu2053Pro) c.5459T>C (p.Leu1820Pro) c.6206T>C (p.Leu2069Pro)
16	g.3728835A>T	CA394553885	CREBBP	c.6212T>A (p.Leu2071Gln) c.6098T>A (p.Leu2033Gln) c.6167T>A (p.Leu2056Gln) c.5795T>A (p.Leu1932Gln) c.5951T>A (p.Leu1984Gln) c.6158T>A (p.Leu2053Gln) c.5459T>A (p.Leu1820Gln) c.6206T>A (p.Leu2069Gln)	dbSNP gnomAD v4
16	g.3728836G>A	CA493393703	CREBBP	c.6211C>T (p.Leu2071=) c.6097C>T (p.Leu2033=) c.6166C>T (p.Leu2056=) c.5794C>T (p.Leu1932=) c.5950C>T (p.Leu1984=) c.6157C>T (p.Leu2053=) c.5458C>T (p.Leu1820=) c.6205C>T (p.Leu2069=)	dbSNP gnomAD v4
16	g.3728836G>C	CA394553886	CREBBP	c.6211C>G (p.Leu2071Val) c.6097C>G (p.Leu2033Val) c.6166C>G (p.Leu2056Val) c.5794C>G (p.Leu1932Val) c.5950C>G (p.Leu1984Val) c.6157C>G (p.Leu2053Val) c.5458C>G (p.Leu1820Val) c.6205C>G (p.Leu2069Val)	dbSNP
16	g.3728836G=	CA2202928870	CREBBP	c.6211C= (p.Leu2071=) c.6097C= (p.Leu2033=) c.6166C= (p.Leu2056=) c.5794C= (p.Leu1932=) c.5950C= (p.Leu1984=) c.6157C= (p.Leu2053=) c.5458C= (p.Leu1820=) c.6205C= (p.Leu2069=)
16	g.3728836G>T	CA7869159	CREBBP	c.6211C>A (p.Leu2071Met) c.6097C>A (p.Leu2033Met) c.6166C>A (p.Leu2056Met) c.5794C>A (p.Leu1932Met) c.5950C>A (p.Leu1984Met) c.6157C>A (p.Leu2053Met) c.5458C>A (p.Leu1820Met) c.6205C>A (p.Leu2069Met)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728837C>A	CA493393705	CREBBP	c.6210G>T (p.Leu2070=) c.6096G>T (p.Leu2032=) c.6165G>T (p.Leu2055=) c.5793G>T (p.Leu1931=) c.5949G>T (p.Leu1983=) c.6156G>T (p.Leu2052=) c.5457G>T (p.Leu1819=) c.6204G>T (p.Leu2068=)
16	g.3728837C>G	CA493393706	CREBBP	c.6210G>C (p.Leu2070=) c.6096G>C (p.Leu2032=) c.6165G>C (p.Leu2055=) c.5793G>C (p.Leu1931=) c.5949G>C (p.Leu1983=) c.6156G>C (p.Leu2052=) c.5457G>C (p.Leu1819=) c.6204G>C (p.Leu2068=)
16	g.3728837C>T	CA493393707	CREBBP	c.6210G>A (p.Leu2070=) c.6096G>A (p.Leu2032=) c.6165G>A (p.Leu2055=) c.5793G>A (p.Leu1931=) c.5949G>A (p.Leu1983=) c.6156G>A (p.Leu2052=) c.5457G>A (p.Leu1819=) c.6204G>A (p.Leu2068=)	dbSNP gnomAD v4
16	g.3728838A>C	CA394553887	CREBBP	c.6209T>G (p.Leu2070Arg) c.6095T>G (p.Leu2032Arg) c.6164T>G (p.Leu2055Arg) c.5792T>G (p.Leu1931Arg) c.5948T>G (p.Leu1983Arg) c.6155T>G (p.Leu2052Arg) c.5456T>G (p.Leu1819Arg) c.6203T>G (p.Leu2068Arg)
16	g.3728838A>G	CA394553888	CREBBP	c.6209T>C (p.Leu2070Pro) c.6095T>C (p.Leu2032Pro) c.6164T>C (p.Leu2055Pro) c.5792T>C (p.Leu1931Pro) c.5948T>C (p.Leu1983Pro) c.6155T>C (p.Leu2052Pro) c.5456T>C (p.Leu1819Pro) c.6203T>C (p.Leu2068Pro)	dbSNP
16	g.3728838A>T	CA394553889	CREBBP	c.6209T>A (p.Leu2070Gln) c.6095T>A (p.Leu2032Gln) c.6164T>A (p.Leu2055Gln) c.5792T>A (p.Leu1931Gln) c.5948T>A (p.Leu1983Gln) c.6155T>A (p.Leu2052Gln) c.5456T>A (p.Leu1819Gln) c.6203T>A (p.Leu2068Gln)	dbSNP
16	g.3728839G>A	CA493393708	CREBBP	c.6208C>T (p.Leu2070=) c.6094C>T (p.Leu2032=) c.6163C>T (p.Leu2055=) c.5791C>T (p.Leu1931=) c.5947C>T (p.Leu1983=) c.6154C>T (p.Leu2052=) c.5455C>T (p.Leu1819=) c.6202C>T (p.Leu2068=)	dbSNP gnomAD v4
16	g.3728839G>C	CA394553890	CREBBP	c.6208C>G (p.Leu2070Val) c.6094C>G (p.Leu2032Val) c.6163C>G (p.Leu2055Val) c.5791C>G (p.Leu1931Val) c.5947C>G (p.Leu1983Val) c.6154C>G (p.Leu2052Val) c.5455C>G (p.Leu1819Val) c.6202C>G (p.Leu2068Val)	dbSNP
16	g.3728839G=	CA2202928871	CREBBP	c.6208C= (p.Leu2070=) c.6094C= (p.Leu2032=) c.6163C= (p.Leu2055=) c.5791C= (p.Leu1931=) c.5947C= (p.Leu1983=) c.6154C= (p.Leu2052=) c.5455C= (p.Leu1819=) c.6202C= (p.Leu2068=)
16	g.3728839G>T	CA394553891	CREBBP	c.6208C>A (p.Leu2070Met) c.6094C>A (p.Leu2032Met) c.6163C>A (p.Leu2055Met) c.5791C>A (p.Leu1931Met) c.5947C>A (p.Leu1983Met) c.6154C>A (p.Leu2052Met) c.5455C>A (p.Leu1819Met) c.6202C>A (p.Leu2068Met)
16	g.3728840G>A	CA7869160	CREBBP	c.6207C>T (p.Asp2069=) c.6093C>T (p.Asp2031=) c.6162C>T (p.Asp2054=) c.5790C>T (p.Asp1930=) c.5946C>T (p.Asp1982=) c.6153C>T (p.Asp2051=) c.5454C>T (p.Asp1818=) c.6201C>T (p.Asp2067=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728840G>C	CA394553893	CREBBP	c.6207C>G (p.Asp2069Glu) c.6093C>G (p.Asp2031Glu) c.6162C>G (p.Asp2054Glu) c.5790C>G (p.Asp1930Glu) c.5946C>G (p.Asp1982Glu) c.6153C>G (p.Asp2051Glu) c.5454C>G (p.Asp1818Glu) c.6201C>G (p.Asp2067Glu)
16	g.3728840G=	CA2202928872	CREBBP	c.6207C= (p.Asp2069=) c.6093C= (p.Asp2031=) c.6162C= (p.Asp2054=) c.5790C= (p.Asp1930=) c.5946C= (p.Asp1982=) c.6153C= (p.Asp2051=) c.5454C= (p.Asp1818=) c.6201C= (p.Asp2067=)
16	g.3728840G>T	CA394553892	CREBBP	c.6207C>A (p.Asp2069Glu) c.6093C>A (p.Asp2031Glu) c.6162C>A (p.Asp2054Glu) c.5790C>A (p.Asp1930Glu) c.5946C>A (p.Asp1982Glu) c.6153C>A (p.Asp2051Glu) c.5454C>A (p.Asp1818Glu) c.6201C>A (p.Asp2067Glu)
16	g.3728841T>A	CA394553894	CREBBP	c.6206A>T (p.Asp2069Val) c.6092A>T (p.Asp2031Val) c.6161A>T (p.Asp2054Val) c.5789A>T (p.Asp1930Val) c.5945A>T (p.Asp1982Val) c.6152A>T (p.Asp2051Val) c.5453A>T (p.Asp1818Val) c.6200A>T (p.Asp2067Val)	dbSNP
16	g.3728841T>C	CA394553896	CREBBP	c.6206A>G (p.Asp2069Gly) c.6092A>G (p.Asp2031Gly) c.6161A>G (p.Asp2054Gly) c.5789A>G (p.Asp1930Gly) c.5945A>G (p.Asp1982Gly) c.6152A>G (p.Asp2051Gly) c.5453A>G (p.Asp1818Gly) c.6200A>G (p.Asp2067Gly)	dbSNP
16	g.3728841T>G	CA394553895	CREBBP	c.6206A>C (p.Asp2069Ala) c.6092A>C (p.Asp2031Ala) c.6161A>C (p.Asp2054Ala) c.5789A>C (p.Asp1930Ala) c.5945A>C (p.Asp1982Ala) c.6152A>C (p.Asp2051Ala) c.5453A>C (p.Asp1818Ala) c.6200A>C (p.Asp2067Ala)	dbSNP
16	g.3728842C>A	CA394553897	CREBBP	c.6205G>T (p.Asp2069Tyr) c.6091G>T (p.Asp2031Tyr) c.6160G>T (p.Asp2054Tyr) c.5788G>T (p.Asp1930Tyr) c.5944G>T (p.Asp1982Tyr) c.6151G>T (p.Asp2051Tyr) c.5452G>T (p.Asp1818Tyr) c.6199G>T (p.Asp2067Tyr)
16	g.3728842C>G	CA394553898	CREBBP	c.6205G>C (p.Asp2069His) c.6091G>C (p.Asp2031His) c.6160G>C (p.Asp2054His) c.5788G>C (p.Asp1930His) c.5944G>C (p.Asp1982His) c.6151G>C (p.Asp2051His) c.5452G>C (p.Asp1818His) c.6199G>C (p.Asp2067His)
16	g.3728842C>T	CA394553899	CREBBP	c.6205G>A (p.Asp2069Asn) c.6091G>A (p.Asp2031Asn) c.6160G>A (p.Asp2054Asn) c.5788G>A (p.Asp1930Asn) c.5944G>A (p.Asp1982Asn) c.6151G>A (p.Asp2051Asn) c.5452G>A (p.Asp1818Asn) c.6199G>A (p.Asp2067Asn)	gnomAD v4
16	g.3728843T>A	CA394553900	CREBBP	c.6204A>T (p.Gln2068His) c.6090A>T (p.Gln2030His) c.6159A>T (p.Gln2053His) c.5787A>T (p.Gln1929His) c.5943A>T (p.Gln1981His) c.6150A>T (p.Gln2050His) c.5451A>T (p.Gln1817His) c.6198A>T (p.Gln2066His)	dbSNP
16	g.3728843T>C	CA493393710	CREBBP	c.6204A>G (p.Gln2068=) c.6090A>G (p.Gln2030=) c.6159A>G (p.Gln2053=) c.5787A>G (p.Gln1929=) c.5943A>G (p.Gln1981=) c.6150A>G (p.Gln2050=) c.5451A>G (p.Gln1817=) c.6198A>G (p.Gln2066=)	dbSNP gnomAD v4
16	g.3728843T>G	CA394553901	CREBBP	c.6204A>C (p.Gln2068His) c.6090A>C (p.Gln2030His) c.6159A>C (p.Gln2053His) c.5787A>C (p.Gln1929His) c.5943A>C (p.Gln1981His) c.6150A>C (p.Gln2050His) c.5451A>C (p.Gln1817His) c.6198A>C (p.Gln2066His)
16	g.3728844T>A	CA394553902	CREBBP	c.6203A>T (p.Gln2068Leu) c.6089A>T (p.Gln2030Leu) c.6158A>T (p.Gln2053Leu) c.5786A>T (p.Gln1929Leu) c.5942A>T (p.Gln1981Leu) c.6149A>T (p.Gln2050Leu) c.5450A>T (p.Gln1817Leu) c.6197A>T (p.Gln2066Leu)	dbSNP
16	g.3728844T>C	CA394553903	CREBBP	c.6203A>G (p.Gln2068Arg) c.6089A>G (p.Gln2030Arg) c.6158A>G (p.Gln2053Arg) c.5786A>G (p.Gln1929Arg) c.5942A>G (p.Gln1981Arg) c.6149A>G (p.Gln2050Arg) c.5450A>G (p.Gln1817Arg) c.6197A>G (p.Gln2066Arg)
16	g.3728844T>G	CA394553904	CREBBP	c.6203A>C (p.Gln2068Pro) c.6089A>C (p.Gln2030Pro) c.6158A>C (p.Gln2053Pro) c.5786A>C (p.Gln1929Pro) c.5942A>C (p.Gln1981Pro) c.6149A>C (p.Gln2050Pro) c.5450A>C (p.Gln1817Pro) c.6197A>C (p.Gln2066Pro)	dbSNP
16	g.3728845G>A	CA394553905	CREBBP	c.6202C>T (p.Gln2068Ter) c.6088C>T (p.Gln2030Ter) c.6157C>T (p.Gln2053Ter) c.5785C>T (p.Gln1929Ter) c.5941C>T (p.Gln1981Ter) c.6148C>T (p.Gln2050Ter) c.5449C>T (p.Gln1817Ter) c.6196C>T (p.Gln2066Ter)	dbSNP
16	g.3728845G>C	CA394553906	CREBBP	c.6202C>G (p.Gln2068Glu) c.6088C>G (p.Gln2030Glu) c.6157C>G (p.Gln2053Glu) c.5785C>G (p.Gln1929Glu) c.5941C>G (p.Gln1981Glu) c.6148C>G (p.Gln2050Glu) c.5449C>G (p.Gln1817Glu) c.6196C>G (p.Gln2066Glu)	dbSNP
16	g.3728845G>T	CA394553907	CREBBP	c.6202C>A (p.Gln2068Lys) c.6088C>A (p.Gln2030Lys) c.6157C>A (p.Gln2053Lys) c.5785C>A (p.Gln1929Lys) c.5941C>A (p.Gln1981Lys) c.6148C>A (p.Gln2050Lys) c.5449C>A (p.Gln1817Lys) c.6196C>A (p.Gln2066Lys)	dbSNP gnomAD v4
16	g.3728846C>A	CA493393711	CREBBP	c.6201G>T (p.Leu2067=) c.6087G>T (p.Leu2029=) c.6156G>T (p.Leu2052=) c.5784G>T (p.Leu1928=) c.5940G>T (p.Leu1980=) c.6147G>T (p.Leu2049=) c.5448G>T (p.Leu1816=) c.6195G>T (p.Leu2065=)
16	g.3728846C=	CA2202928873	CREBBP	c.6201G= (p.Leu2067=) c.6087G= (p.Leu2029=) c.6156G= (p.Leu2052=) c.5784G= (p.Leu1928=) c.5940G= (p.Leu1980=) c.6147G= (p.Leu2049=) c.5448G= (p.Leu1816=) c.6195G= (p.Leu2065=)
16	g.3728846C>G	CA493393713	CREBBP	c.6201G>C (p.Leu2067=) c.6087G>C (p.Leu2029=) c.6156G>C (p.Leu2052=) c.5784G>C (p.Leu1928=) c.5940G>C (p.Leu1980=) c.6147G>C (p.Leu2049=) c.5448G>C (p.Leu1816=) c.6195G>C (p.Leu2065=)	dbSNP
16	g.3728846C>T	CA493393712	CREBBP	c.6201G>A (p.Leu2067=) c.6087G>A (p.Leu2029=) c.6156G>A (p.Leu2052=) c.5784G>A (p.Leu1928=) c.5940G>A (p.Leu1980=) c.6147G>A (p.Leu2049=) c.5448G>A (p.Leu1816=) c.6195G>A (p.Leu2065=)	gnomAD v4
16	g.3728847A=	CA2202928874	CREBBP	c.6200T= (p.Leu2067=) c.6086T= (p.Leu2029=) c.6155T= (p.Leu2052=) c.5783T= (p.Leu1928=) c.5939T= (p.Leu1980=) c.6146T= (p.Leu2049=) c.5447T= (p.Leu1816=) c.6194T= (p.Leu2065=)
16	g.3728847A>C	CA394553910	CREBBP	c.6200T>G (p.Leu2067Arg) c.6086T>G (p.Leu2029Arg) c.6155T>G (p.Leu2052Arg) c.5783T>G (p.Leu1928Arg) c.5939T>G (p.Leu1980Arg) c.6146T>G (p.Leu2049Arg) c.5447T>G (p.Leu1816Arg) c.6194T>G (p.Leu2065Arg)	dbSNP
16	g.3728847A>G	CA394553909	CREBBP	c.6200T>C (p.Leu2067Pro) c.6086T>C (p.Leu2029Pro) c.6155T>C (p.Leu2052Pro) c.5783T>C (p.Leu1928Pro) c.5939T>C (p.Leu1980Pro) c.6146T>C (p.Leu2049Pro) c.5447T>C (p.Leu1816Pro) c.6194T>C (p.Leu2065Pro)	dbSNP
16	g.3728847A>T	CA394553908	CREBBP	c.6200T>A (p.Leu2067Gln) c.6086T>A (p.Leu2029Gln) c.6155T>A (p.Leu2052Gln) c.5783T>A (p.Leu1928Gln) c.5939T>A (p.Leu1980Gln) c.6146T>A (p.Leu2049Gln) c.5447T>A (p.Leu1816Gln) c.6194T>A (p.Leu2065Gln)	dbSNP
16	g.3728848G>A	CA493393714	CREBBP	c.6199C>T (p.Leu2067=) c.6085C>T (p.Leu2029=) c.6154C>T (p.Leu2052=) c.5782C>T (p.Leu1928=) c.5938C>T (p.Leu1980=) c.6145C>T (p.Leu2049=) c.5446C>T (p.Leu1816=) c.6193C>T (p.Leu2065=)	dbSNP gnomAD v2
16	g.3728848G>C	CA394553911	CREBBP	c.6199C>G (p.Leu2067Val) c.6085C>G (p.Leu2029Val) c.6154C>G (p.Leu2052Val) c.5782C>G (p.Leu1928Val) c.5938C>G (p.Leu1980Val) c.6145C>G (p.Leu2049Val) c.5446C>G (p.Leu1816Val) c.6193C>G (p.Leu2065Val)	dbSNP gnomAD v2 gnomAD v4
16	g.3728848G=	CA2202928875	CREBBP	c.6199C= (p.Leu2067=) c.6085C= (p.Leu2029=) c.6154C= (p.Leu2052=) c.5782C= (p.Leu1928=) c.5938C= (p.Leu1980=) c.6145C= (p.Leu2049=) c.5446C= (p.Leu1816=) c.6193C= (p.Leu2065=)
16	g.3728848G>T	CA394553912	CREBBP	c.6199C>A (p.Leu2067Met) c.6085C>A (p.Leu2029Met) c.6154C>A (p.Leu2052Met) c.5782C>A (p.Leu1928Met) c.5938C>A (p.Leu1980Met) c.6145C>A (p.Leu2049Met) c.5446C>A (p.Leu1816Met) c.6193C>A (p.Leu2065Met)
16	g.3728849_3728855dup	CA645369671	CREBBP	c.6193_6199dup (p.Leu2067GlnfsTer?) c.6079_6085dup (p.Leu2029GlnfsTer?) c.6148_6154dup (p.Leu2052GlnfsTer?) c.5776_5782dup (p.Leu1928GlnfsTer?) c.5932_5938dup (p.Leu1980GlnfsTer?) c.6139_6145dup (p.Leu2049GlnfsTer?) c.5440_5446dup (p.Leu1816GlnfsTer?) c.6187_6193dup (p.Leu2065GlnfsTer?)	ClinVar dbSNP
16	g.3728849A>C	CA493393716	CREBBP	c.6198T>G (p.Ala2066=) c.6084T>G (p.Ala2028=) c.6153T>G (p.Ala2051=) c.5781T>G (p.Ala1927=) c.5937T>G (p.Ala1979=) c.6144T>G (p.Ala2048=) c.5445T>G (p.Ala1815=) c.6192T>G (p.Ala2064=)
16	g.3728849A>G	CA493393717	CREBBP	c.6198T>C (p.Ala2066=) c.6084T>C (p.Ala2028=) c.6153T>C (p.Ala2051=) c.5781T>C (p.Ala1927=) c.5937T>C (p.Ala1979=) c.6144T>C (p.Ala2048=) c.5445T>C (p.Ala1815=) c.6192T>C (p.Ala2064=)	dbSNP
16	g.3728849A>T	CA493393718	CREBBP	c.6198T>A (p.Ala2066=) c.6084T>A (p.Ala2028=) c.6153T>A (p.Ala2051=) c.5781T>A (p.Ala1927=) c.5937T>A (p.Ala1979=) c.6144T>A (p.Ala2048=) c.5445T>A (p.Ala1815=) c.6192T>A (p.Ala2064=)	dbSNP
16	g.3728850G>A	CA394553913	CREBBP	c.6197C>T (p.Ala2066Val) c.6083C>T (p.Ala2028Val) c.6152C>T (p.Ala2051Val) c.5780C>T (p.Ala1927Val) c.5936C>T (p.Ala1979Val) c.6143C>T (p.Ala2048Val) c.5444C>T (p.Ala1815Val) c.6191C>T (p.Ala2064Val)	dbSNP
16	g.3728850G>C	CA394553914	CREBBP	c.6197C>G (p.Ala2066Gly) c.6083C>G (p.Ala2028Gly) c.6152C>G (p.Ala2051Gly) c.5780C>G (p.Ala1927Gly) c.5936C>G (p.Ala1979Gly) c.6143C>G (p.Ala2048Gly) c.5444C>G (p.Ala1815Gly) c.6191C>G (p.Ala2064Gly)	dbSNP
16	g.3728850G>T	CA394553915	CREBBP	c.6197C>A (p.Ala2066Asp) c.6083C>A (p.Ala2028Asp) c.6152C>A (p.Ala2051Asp) c.5780C>A (p.Ala1927Asp) c.5936C>A (p.Ala1979Asp) c.6143C>A (p.Ala2048Asp) c.5444C>A (p.Ala1815Asp) c.6191C>A (p.Ala2064Asp)
16	g.3728851C>A	CA394553916	CREBBP	c.6196G>T (p.Ala2066Ser) c.6082G>T (p.Ala2028Ser) c.6151G>T (p.Ala2051Ser) c.5779G>T (p.Ala1927Ser) c.5935G>T (p.Ala1979Ser) c.6142G>T (p.Ala2048Ser) c.5443G>T (p.Ala1815Ser) c.6190G>T (p.Ala2064Ser)	dbSNP
16	g.3728851C=	CA2202928877	CREBBP	c.6196G= (p.Ala2066=) c.6082G= (p.Ala2028=) c.6151G= (p.Ala2051=) c.5779G= (p.Ala1927=) c.5935G= (p.Ala1979=) c.6142G= (p.Ala2048=) c.5443G= (p.Ala1815=) c.6190G= (p.Ala2064=)
16	g.3728851C>G	CA394553917	CREBBP	c.6196G>C (p.Ala2066Pro) c.6082G>C (p.Ala2028Pro) c.6151G>C (p.Ala2051Pro) c.5779G>C (p.Ala1927Pro) c.5935G>C (p.Ala1979Pro) c.6142G>C (p.Ala2048Pro) c.5443G>C (p.Ala1815Pro) c.6190G>C (p.Ala2064Pro)	dbSNP
16	g.3728851C>T	CA394553918	CREBBP	c.6196G>A (p.Ala2066Thr) c.6082G>A (p.Ala2028Thr) c.6151G>A (p.Ala2051Thr) c.5779G>A (p.Ala1927Thr) c.5935G>A (p.Ala1979Thr) c.6142G>A (p.Ala2048Thr) c.5443G>A (p.Ala1815Thr) c.6190G>A (p.Ala2064Thr)	dbSNP gnomAD v3 gnomAD v4
16	g.3728851_3728862delinsCGCTGGGTGAGA	CA2202928876	CREBBP	c.6185_6196delinsTCTCACCCAGCG (p.Ile2062=) c.6071_6082delinsTCTCACCCAGCG (p.Ile2024=) c.6140_6151delinsTCTCACCCAGCG (p.Ile2047=) c.5768_5779delinsTCTCACCCAGCG (p.Ile1923=) c.5924_5935delinsTCTCACCCAGCG (p.Ile1975=) c.6131_6142delinsTCTCACCCAGCG (p.Ile2044=) c.5432_5443delinsTCTCACCCAGCG (p.Ile1811=) c.6179_6190delinsTCTCACCCAGCG (p.Ile2060=)
16	g.3728852G>A	CA7869161	CREBBP	c.6195C>T (p.Ser2065=) c.6081C>T (p.Ser2027=) c.6150C>T (p.Ser2050=) c.5778C>T (p.Ser1926=) c.5934C>T (p.Ser1978=) c.6141C>T (p.Ser2047=) c.5442C>T (p.Ser1814=) c.6189C>T (p.Ser2063=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728852G>C	CA7869162	CREBBP	c.6195C>G (p.Ser2065Arg) c.6081C>G (p.Ser2027Arg) c.6150C>G (p.Ser2050Arg) c.5778C>G (p.Ser1926Arg) c.5934C>G (p.Ser1978Arg) c.6141C>G (p.Ser2047Arg) c.5442C>G (p.Ser1814Arg) c.6189C>G (p.Ser2063Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728852G=	CA2202928878	CREBBP	c.6195C= (p.Ser2065=) c.6081C= (p.Ser2027=) c.6150C= (p.Ser2050=) c.5778C= (p.Ser1926=) c.5934C= (p.Ser1978=) c.6141C= (p.Ser2047=) c.5442C= (p.Ser1814=) c.6189C= (p.Ser2063=)
16	g.3728852G>T	CA394553919	CREBBP	c.6195C>A (p.Ser2065Arg) c.6081C>A (p.Ser2027Arg) c.6150C>A (p.Ser2050Arg) c.5778C>A (p.Ser1926Arg) c.5934C>A (p.Ser1978Arg) c.6141C>A (p.Ser2047Arg) c.5442C>A (p.Ser1814Arg) c.6189C>A (p.Ser2063Arg)	ClinVar dbSNP gnomAD v4
16	g.3728852_3728862del	CA658798525	CREBBP	c.6185_6195del (p.Ile2062SerfsTer?) c.6071_6081del (p.Ile2024SerfsTer?) c.6140_6150del (p.Ile2047SerfsTer?) c.5768_5778del (p.Ile1923SerfsTer?) c.5924_5934del (p.Ile1975SerfsTer?) c.6131_6141del (p.Ile2044SerfsTer?) c.5432_5442del (p.Ile1811SerfsTer?) c.6179_6189del (p.Ile2060SerfsTer?)	ClinVar dbSNP
16	g.3728853C>A	CA394553922	CREBBP	c.6194G>T (p.Ser2065Ile) c.6080G>T (p.Ser2027Ile) c.6149G>T (p.Ser2050Ile) c.5777G>T (p.Ser1926Ile) c.5933G>T (p.Ser1978Ile) c.6140G>T (p.Ser2047Ile) c.5441G>T (p.Ser1814Ile) c.6188G>T (p.Ser2063Ile)	dbSNP
16	g.3728853C>G	CA394553921	CREBBP	c.6194G>C (p.Ser2065Thr) c.6080G>C (p.Ser2027Thr) c.6149G>C (p.Ser2050Thr) c.5777G>C (p.Ser1926Thr) c.5933G>C (p.Ser1978Thr) c.6140G>C (p.Ser2047Thr) c.5441G>C (p.Ser1814Thr) c.6188G>C (p.Ser2063Thr)	dbSNP
16	g.3728853C>T	CA394553920	CREBBP	c.6194G>A (p.Ser2065Asn) c.6080G>A (p.Ser2027Asn) c.6149G>A (p.Ser2050Asn) c.5777G>A (p.Ser1926Asn) c.5933G>A (p.Ser1978Asn) c.6140G>A (p.Ser2047Asn) c.5441G>A (p.Ser1814Asn) c.6188G>A (p.Ser2063Asn)	dbSNP
16	g.3728854T>A	CA394553923	CREBBP	c.6193A>T (p.Ser2065Cys) c.6079A>T (p.Ser2027Cys) c.6148A>T (p.Ser2050Cys) c.5776A>T (p.Ser1926Cys) c.5932A>T (p.Ser1978Cys) c.6139A>T (p.Ser2047Cys) c.5440A>T (p.Ser1814Cys) c.6187A>T (p.Ser2063Cys)
16	g.3728854T>C	CA394553924	CREBBP	c.6193A>G (p.Ser2065Gly) c.6079A>G (p.Ser2027Gly) c.6148A>G (p.Ser2050Gly) c.5776A>G (p.Ser1926Gly) c.5932A>G (p.Ser1978Gly) c.6139A>G (p.Ser2047Gly) c.5440A>G (p.Ser1814Gly) c.6187A>G (p.Ser2063Gly)
16	g.3728854T>G	CA394553925	CREBBP	c.6193A>C (p.Ser2065Arg) c.6079A>C (p.Ser2027Arg) c.6148A>C (p.Ser2050Arg) c.5776A>C (p.Ser1926Arg) c.5932A>C (p.Ser1978Arg) c.6139A>C (p.Ser2047Arg) c.5440A>C (p.Ser1814Arg) c.6187A>C (p.Ser2063Arg)
16	g.3728855G>A	CA493393723	CREBBP	c.6192C>T (p.Pro2064=) c.6078C>T (p.Pro2026=) c.6147C>T (p.Pro2049=) c.5775C>T (p.Pro1925=) c.5931C>T (p.Pro1977=) c.6138C>T (p.Pro2046=) c.5439C>T (p.Pro1813=) c.6186C>T (p.Pro2062=)	dbSNP
16	g.3728855G>C	CA493393724	CREBBP	c.6192C>G (p.Pro2064=) c.6078C>G (p.Pro2026=) c.6147C>G (p.Pro2049=) c.5775C>G (p.Pro1925=) c.5931C>G (p.Pro1977=) c.6138C>G (p.Pro2046=) c.5439C>G (p.Pro1813=) c.6186C>G (p.Pro2062=)	dbSNP
16	g.3728855G>T	CA493393725	CREBBP	c.6192C>A (p.Pro2064=) c.6078C>A (p.Pro2026=) c.6147C>A (p.Pro2049=) c.5775C>A (p.Pro1925=) c.5931C>A (p.Pro1977=) c.6138C>A (p.Pro2046=) c.5439C>A (p.Pro1813=) c.6186C>A (p.Pro2062=)	dbSNP
16	g.3728857del	CA2695222739	CREBBP	c.6192del (p.Ser2065AlafsTer10) c.6078del (p.Ser2027AlafsTer10) c.6147del (p.Ser2050AlafsTer10) c.5775del (p.Ser1926AlafsTer10) c.5931del (p.Ser1978AlafsTer10) c.6138del (p.Ser2047AlafsTer10) c.5439del (p.Ser1814AlafsTer10) c.6186del (p.Ser2063AlafsTer10)
16	g.3728856G>A	CA394553926	CREBBP	c.6191C>T (p.Pro2064Leu) c.6077C>T (p.Pro2026Leu) c.6146C>T (p.Pro2049Leu) c.5774C>T (p.Pro1925Leu) c.5930C>T (p.Pro1977Leu) c.6137C>T (p.Pro2046Leu) c.5438C>T (p.Pro1813Leu) c.6185C>T (p.Pro2062Leu)	dbSNP
16	g.3728856G>C	CA394553927	CREBBP	c.6191C>G (p.Pro2064Arg) c.6077C>G (p.Pro2026Arg) c.6146C>G (p.Pro2049Arg) c.5774C>G (p.Pro1925Arg) c.5930C>G (p.Pro1977Arg) c.6137C>G (p.Pro2046Arg) c.5438C>G (p.Pro1813Arg) c.6185C>G (p.Pro2062Arg)	dbSNP
16	g.3728856G>T	CA394553928	CREBBP	c.6191C>A (p.Pro2064His) c.6077C>A (p.Pro2026His) c.6146C>A (p.Pro2049His) c.5774C>A (p.Pro1925His) c.5930C>A (p.Pro1977His) c.6137C>A (p.Pro2046His) c.5438C>A (p.Pro1813His) c.6185C>A (p.Pro2062His)	dbSNP gnomAD v4
16	g.3728857G>A	CA394553929	CREBBP	c.6190C>T (p.Pro2064Ser) c.6076C>T (p.Pro2026Ser) c.6145C>T (p.Pro2049Ser) c.5773C>T (p.Pro1925Ser) c.5929C>T (p.Pro1977Ser) c.6136C>T (p.Pro2046Ser) c.5437C>T (p.Pro1813Ser) c.6184C>T (p.Pro2062Ser)	dbSNP
16	g.3728857G>C	CA394553930	CREBBP	c.6190C>G (p.Pro2064Ala) c.6076C>G (p.Pro2026Ala) c.6145C>G (p.Pro2049Ala) c.5773C>G (p.Pro1925Ala) c.5929C>G (p.Pro1977Ala) c.6136C>G (p.Pro2046Ala) c.5437C>G (p.Pro1813Ala) c.6184C>G (p.Pro2062Ala)	dbSNP
16	g.3728857G=	CA2202928879	CREBBP	c.6190C= (p.Pro2064=) c.6076C= (p.Pro2026=) c.6145C= (p.Pro2049=) c.5773C= (p.Pro1925=) c.5929C= (p.Pro1977=) c.6136C= (p.Pro2046=) c.5437C= (p.Pro1813=) c.6184C= (p.Pro2062=)
16	g.3728857G>T	CA7869163	CREBBP	c.6190C>A (p.Pro2064Thr) c.6076C>A (p.Pro2026Thr) c.6145C>A (p.Pro2049Thr) c.5773C>A (p.Pro1925Thr) c.5929C>A (p.Pro1977Thr) c.6136C>A (p.Pro2046Thr) c.5437C>A (p.Pro1813Thr) c.6184C>A (p.Pro2062Thr)	dbSNP ExAC gnomAD v2
16	g.3728858T>A	CA493393729	CREBBP	c.6189A>T (p.Ser2063=) c.6075A>T (p.Ser2025=) c.6144A>T (p.Ser2048=) c.5772A>T (p.Ser1924=) c.5928A>T (p.Ser1976=) c.6135A>T (p.Ser2045=) c.5436A>T (p.Ser1812=) c.6183A>T (p.Ser2061=)	dbSNP
16	g.3728858T>C	CA493393730	CREBBP	c.6189A>G (p.Ser2063=) c.6075A>G (p.Ser2025=) c.6144A>G (p.Ser2048=) c.5772A>G (p.Ser1924=) c.5928A>G (p.Ser1976=) c.6135A>G (p.Ser2045=) c.5436A>G (p.Ser1812=) c.6183A>G (p.Ser2061=)	dbSNP
16	g.3728858T>G	CA493393731	CREBBP	c.6189A>C (p.Ser2063=) c.6075A>C (p.Ser2025=) c.6144A>C (p.Ser2048=) c.5772A>C (p.Ser1924=) c.5928A>C (p.Ser1976=) c.6135A>C (p.Ser2045=) c.5436A>C (p.Ser1812=) c.6183A>C (p.Ser2061=)	dbSNP
16	g.3728859G>A	CA394553931	CREBBP	c.6188C>T (p.Ser2063Leu) c.6074C>T (p.Ser2025Leu) c.6143C>T (p.Ser2048Leu) c.5771C>T (p.Ser1924Leu) c.5927C>T (p.Ser1976Leu) c.6134C>T (p.Ser2045Leu) c.5435C>T (p.Ser1812Leu) c.6182C>T (p.Ser2061Leu)	dbSNP gnomAD v2 gnomAD v4
16	g.3728859G>C	CA394553932	CREBBP	c.6188C>G (p.Ser2063Ter) c.6074C>G (p.Ser2025Ter) c.6143C>G (p.Ser2048Ter) c.5771C>G (p.Ser1924Ter) c.5927C>G (p.Ser1976Ter) c.6134C>G (p.Ser2045Ter) c.5435C>G (p.Ser1812Ter) c.6182C>G (p.Ser2061Ter)
16	g.3728859G=	CA2202928880	CREBBP	c.6188C= (p.Ser2063=) c.6074C= (p.Ser2025=) c.6143C= (p.Ser2048=) c.5771C= (p.Ser1924=) c.5927C= (p.Ser1976=) c.6134C= (p.Ser2045=) c.5435C= (p.Ser1812=) c.6182C= (p.Ser2061=)
16	g.3728859G>T	CA394553933	CREBBP	c.6188C>A (p.Ser2063Ter) c.6074C>A (p.Ser2025Ter) c.6143C>A (p.Ser2048Ter) c.5771C>A (p.Ser1924Ter) c.5927C>A (p.Ser1976Ter) c.6134C>A (p.Ser2045Ter) c.5435C>A (p.Ser1812Ter) c.6182C>A (p.Ser2061Ter)	gnomAD v4
16	g.3728860A>C	CA394553936	CREBBP	c.6187T>G (p.Ser2063Ala) c.6073T>G (p.Ser2025Ala) c.6142T>G (p.Ser2048Ala) c.5770T>G (p.Ser1924Ala) c.5926T>G (p.Ser1976Ala) c.6133T>G (p.Ser2045Ala) c.5434T>G (p.Ser1812Ala) c.6181T>G (p.Ser2061Ala)
16	g.3728860A>G	CA394553935	CREBBP	c.6187T>C (p.Ser2063Pro) c.6073T>C (p.Ser2025Pro) c.6142T>C (p.Ser2048Pro) c.5770T>C (p.Ser1924Pro) c.5926T>C (p.Ser1976Pro) c.6133T>C (p.Ser2045Pro) c.5434T>C (p.Ser1812Pro) c.6181T>C (p.Ser2061Pro)	dbSNP
16	g.3728860A>T	CA394553934	CREBBP	c.6187T>A (p.Ser2063Thr) c.6073T>A (p.Ser2025Thr) c.6142T>A (p.Ser2048Thr) c.5770T>A (p.Ser1924Thr) c.5926T>A (p.Ser1976Thr) c.6133T>A (p.Ser2045Thr) c.5434T>A (p.Ser1812Thr) c.6181T>A (p.Ser2061Thr)	dbSNP
16	g.3728861G>A	CA7869164	CREBBP	c.6186C>T (p.Ile2062=) c.6072C>T (p.Ile2024=) c.6141C>T (p.Ile2047=) c.5769C>T (p.Ile1923=) c.5925C>T (p.Ile1975=) c.6132C>T (p.Ile2044=) c.5433C>T (p.Ile1811=) c.6180C>T (p.Ile2060=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728861G>C	CA394553937	CREBBP	c.6186C>G (p.Ile2062Met) c.6072C>G (p.Ile2024Met) c.6141C>G (p.Ile2047Met) c.5769C>G (p.Ile1923Met) c.5925C>G (p.Ile1975Met) c.6132C>G (p.Ile2044Met) c.5433C>G (p.Ile1811Met) c.6180C>G (p.Ile2060Met)	dbSNP
16	g.3728861G=	CA2202928881	CREBBP	c.6186C= (p.Ile2062=) c.6072C= (p.Ile2024=) c.6141C= (p.Ile2047=) c.5769C= (p.Ile1923=) c.5925C= (p.Ile1975=) c.6132C= (p.Ile2044=) c.5433C= (p.Ile1811=) c.6180C= (p.Ile2060=)
16	g.3728861G>T	CA493393732	CREBBP	c.6186C>A (p.Ile2062=) c.6072C>A (p.Ile2024=) c.6141C>A (p.Ile2047=) c.5769C>A (p.Ile1923=) c.5925C>A (p.Ile1975=) c.6132C>A (p.Ile2044=) c.5433C>A (p.Ile1811=) c.6180C>A (p.Ile2060=)
16	g.3728862A=	CA2202928882	CREBBP	c.6185T= (p.Ile2062=) c.6071T= (p.Ile2024=) c.6140T= (p.Ile2047=) c.5768T= (p.Ile1923=) c.5924T= (p.Ile1975=) c.6131T= (p.Ile2044=) c.5432T= (p.Ile1811=) c.6179T= (p.Ile2060=)
16	g.3728862A>C	CA394553938	CREBBP	c.6185T>G (p.Ile2062Ser) c.6071T>G (p.Ile2024Ser) c.6140T>G (p.Ile2047Ser) c.5768T>G (p.Ile1923Ser) c.5924T>G (p.Ile1975Ser) c.6131T>G (p.Ile2044Ser) c.5432T>G (p.Ile1811Ser) c.6179T>G (p.Ile2060Ser)	dbSNP gnomAD v4
16	g.3728862A>G	CA394553939	CREBBP	c.6185T>C (p.Ile2062Thr) c.6071T>C (p.Ile2024Thr) c.6140T>C (p.Ile2047Thr) c.5768T>C (p.Ile1923Thr) c.5924T>C (p.Ile1975Thr) c.6131T>C (p.Ile2044Thr) c.5432T>C (p.Ile1811Thr) c.6179T>C (p.Ile2060Thr)
16	g.3728862A>T	CA394553940	CREBBP	c.6185T>A (p.Ile2062Asn) c.6071T>A (p.Ile2024Asn) c.6140T>A (p.Ile2047Asn) c.5768T>A (p.Ile1923Asn) c.5924T>A (p.Ile1975Asn) c.6131T>A (p.Ile2044Asn) c.5432T>A (p.Ile1811Asn) c.6179T>A (p.Ile2060Asn)	dbSNP
16	g.3728863T>A	CA394553941	CREBBP	c.6184A>T (p.Ile2062Phe) c.6070A>T (p.Ile2024Phe) c.6139A>T (p.Ile2047Phe) c.5767A>T (p.Ile1923Phe) c.5923A>T (p.Ile1975Phe) c.6130A>T (p.Ile2044Phe) c.5431A>T (p.Ile1811Phe) c.6178A>T (p.Ile2060Phe)	dbSNP
16	g.3728863T>C	CA394553942	CREBBP	c.6184A>G (p.Ile2062Val) c.6070A>G (p.Ile2024Val) c.6139A>G (p.Ile2047Val) c.5767A>G (p.Ile1923Val) c.5923A>G (p.Ile1975Val) c.6130A>G (p.Ile2044Val) c.5431A>G (p.Ile1811Val) c.6178A>G (p.Ile2060Val)
16	g.3728863T>G	CA394553943	CREBBP	c.6184A>C (p.Ile2062Leu) c.6070A>C (p.Ile2024Leu) c.6139A>C (p.Ile2047Leu) c.5767A>C (p.Ile1923Leu) c.5923A>C (p.Ile1975Leu) c.6130A>C (p.Ile2044Leu) c.5431A>C (p.Ile1811Leu) c.6178A>C (p.Ile2060Leu)	dbSNP
16	g.3728864G>A	CA493393734	CREBBP	c.6183C>T (p.Ser2061=) c.6069C>T (p.Ser2023=) c.6138C>T (p.Ser2046=) c.5766C>T (p.Ser1922=) c.5922C>T (p.Ser1974=) c.6129C>T (p.Ser2043=) c.5430C>T (p.Ser1810=) c.6177C>T (p.Ser2059=)	dbSNP gnomAD v4
16	g.3728864G>C	CA394553944	CREBBP	c.6183C>G (p.Ser2061Arg) c.6069C>G (p.Ser2023Arg) c.6138C>G (p.Ser2046Arg) c.5766C>G (p.Ser1922Arg) c.5922C>G (p.Ser1974Arg) c.6129C>G (p.Ser2043Arg) c.5430C>G (p.Ser1810Arg) c.6177C>G (p.Ser2059Arg)	dbSNP
16	g.3728864G=	CA2202928883	CREBBP	c.6183C= (p.Ser2061=) c.6069C= (p.Ser2023=) c.6138C= (p.Ser2046=) c.5766C= (p.Ser1922=) c.5922C= (p.Ser1974=) c.6129C= (p.Ser2043=) c.5430C= (p.Ser1810=) c.6177C= (p.Ser2059=)
16	g.3728864G>T	CA394553945	CREBBP	c.6183C>A (p.Ser2061Arg) c.6069C>A (p.Ser2023Arg) c.6138C>A (p.Ser2046Arg) c.5766C>A (p.Ser1922Arg) c.5922C>A (p.Ser1974Arg) c.6129C>A (p.Ser2043Arg) c.5430C>A (p.Ser1810Arg) c.6177C>A (p.Ser2059Arg)	gnomAD v4
16	g.3728865C>A	CA394553946	CREBBP	c.6182G>T (p.Ser2061Ile) c.6068G>T (p.Ser2023Ile) c.6137G>T (p.Ser2046Ile) c.5765G>T (p.Ser1922Ile) c.5921G>T (p.Ser1974Ile) c.6128G>T (p.Ser2043Ile) c.5429G>T (p.Ser1810Ile) c.6176G>T (p.Ser2059Ile)
16	g.3728865C=	CA2202928884	CREBBP	c.6182G= (p.Ser2061=) c.6068G= (p.Ser2023=) c.6137G= (p.Ser2046=) c.5765G= (p.Ser1922=) c.5921G= (p.Ser1974=) c.6128G= (p.Ser2043=) c.5429G= (p.Ser1810=) c.6176G= (p.Ser2059=)
16	g.3728865C>G	CA394553947	CREBBP	c.6182G>C (p.Ser2061Thr) c.6068G>C (p.Ser2023Thr) c.6137G>C (p.Ser2046Thr) c.5765G>C (p.Ser1922Thr) c.5921G>C (p.Ser1974Thr) c.6128G>C (p.Ser2043Thr) c.5429G>C (p.Ser1810Thr) c.6176G>C (p.Ser2059Thr)	dbSNP
16	g.3728865C>T	CA394553948	CREBBP	c.6182G>A (p.Ser2061Asn) c.6068G>A (p.Ser2023Asn) c.6137G>A (p.Ser2046Asn) c.5765G>A (p.Ser1922Asn) c.5921G>A (p.Ser1974Asn) c.6128G>A (p.Ser2043Asn) c.5429G>A (p.Ser1810Asn) c.6176G>A (p.Ser2059Asn)	dbSNP gnomAD v2
16	g.3728866T>A	CA394553951	CREBBP	c.6181A>T (p.Ser2061Cys) c.6067A>T (p.Ser2023Cys) c.6136A>T (p.Ser2046Cys) c.5764A>T (p.Ser1922Cys) c.5920A>T (p.Ser1974Cys) c.6127A>T (p.Ser2043Cys) c.5428A>T (p.Ser1810Cys) c.6175A>T (p.Ser2059Cys)	dbSNP
16	g.3728866T>C	CA394553950	CREBBP	c.6181A>G (p.Ser2061Gly) c.6067A>G (p.Ser2023Gly) c.6136A>G (p.Ser2046Gly) c.5764A>G (p.Ser1922Gly) c.5920A>G (p.Ser1974Gly) c.6127A>G (p.Ser2043Gly) c.5428A>G (p.Ser1810Gly) c.6175A>G (p.Ser2059Gly)	dbSNP
16	g.3728866T>G	CA394553949	CREBBP	c.6181A>C (p.Ser2061Arg) c.6067A>C (p.Ser2023Arg) c.6136A>C (p.Ser2046Arg) c.5764A>C (p.Ser1922Arg) c.5920A>C (p.Ser1974Arg) c.6127A>C (p.Ser2043Arg) c.5428A>C (p.Ser1810Arg) c.6175A>C (p.Ser2059Arg)
16	g.3728867C>A	CA394553953	CREBBP	c.6180G>T (p.Arg2060Ser) c.6066G>T (p.Arg2022Ser) c.6135G>T (p.Arg2045Ser) c.5763G>T (p.Arg1921Ser) c.5919G>T (p.Arg1973Ser) c.6126G>T (p.Arg2042Ser) c.5427G>T (p.Arg1809Ser) c.6174G>T (p.Arg2058Ser)	dbSNP
16	g.3728867C>G	CA394553952	CREBBP	c.6180G>C (p.Arg2060Ser) c.6066G>C (p.Arg2022Ser) c.6135G>C (p.Arg2045Ser) c.5763G>C (p.Arg1921Ser) c.5919G>C (p.Arg1973Ser) c.6126G>C (p.Arg2042Ser) c.5427G>C (p.Arg1809Ser) c.6174G>C (p.Arg2058Ser)	dbSNP gnomAD v4
16	g.3728867C>T	CA493393737	CREBBP	c.6180G>A (p.Arg2060=) c.6066G>A (p.Arg2022=) c.6135G>A (p.Arg2045=) c.5763G>A (p.Arg1921=) c.5919G>A (p.Arg1973=) c.6126G>A (p.Arg2042=) c.5427G>A (p.Arg1809=) c.6174G>A (p.Arg2058=)	dbSNP
16	g.3728868C>A	CA394553956	CREBBP	c.6179G>T (p.Arg2060Met) c.6065G>T (p.Arg2022Met) c.6134G>T (p.Arg2045Met) c.5762G>T (p.Arg1921Met) c.5918G>T (p.Arg1973Met) c.6125G>T (p.Arg2042Met) c.5426G>T (p.Arg1809Met) c.6173G>T (p.Arg2058Met)
16	g.3728868C>G	CA394553954	CREBBP	c.6179G>C (p.Arg2060Thr) c.6065G>C (p.Arg2022Thr) c.6134G>C (p.Arg2045Thr) c.5762G>C (p.Arg1921Thr) c.5918G>C (p.Arg1973Thr) c.6125G>C (p.Arg2042Thr) c.5426G>C (p.Arg1809Thr) c.6173G>C (p.Arg2058Thr)	dbSNP
16	g.3728868C>T	CA394553955	CREBBP	c.6179G>A (p.Arg2060Lys) c.6065G>A (p.Arg2022Lys) c.6134G>A (p.Arg2045Lys) c.5762G>A (p.Arg1921Lys) c.5918G>A (p.Arg1973Lys) c.6125G>A (p.Arg2042Lys) c.5426G>A (p.Arg1809Lys) c.6173G>A (p.Arg2058Lys)	dbSNP
16	g.3728869T>A	CA394553957	CREBBP	c.6178A>T (p.Arg2060Trp) c.6064A>T (p.Arg2022Trp) c.6133A>T (p.Arg2045Trp) c.5761A>T (p.Arg1921Trp) c.5917A>T (p.Arg1973Trp) c.6124A>T (p.Arg2042Trp) c.5425A>T (p.Arg1809Trp) c.6172A>T (p.Arg2058Trp)	dbSNP
16	g.3728869T>C	CA394553958	CREBBP	c.6178A>G (p.Arg2060Gly) c.6064A>G (p.Arg2022Gly) c.6133A>G (p.Arg2045Gly) c.5761A>G (p.Arg1921Gly) c.5917A>G (p.Arg1973Gly) c.6124A>G (p.Arg2042Gly) c.5425A>G (p.Arg1809Gly) c.6172A>G (p.Arg2058Gly)	dbSNP gnomAD v3 gnomAD v4
16	g.3728869T>G	CA493393738	CREBBP	c.6178A>C (p.Arg2060=) c.6064A>C (p.Arg2022=) c.6133A>C (p.Arg2045=) c.5761A>C (p.Arg1921=) c.5917A>C (p.Arg1973=) c.6124A>C (p.Arg2042=) c.5425A>C (p.Arg1809=) c.6172A>C (p.Arg2058=)	dbSNP gnomAD v3 gnomAD v4
16	g.3728869T=	CA2202928885	CREBBP	c.6178A= (p.Arg2060=) c.6064A= (p.Arg2022=) c.6133A= (p.Arg2045=) c.5761A= (p.Arg1921=) c.5917A= (p.Arg1973=) c.6124A= (p.Arg2042=) c.5425A= (p.Arg1809=) c.6172A= (p.Arg2058=)
16	g.3728870G>A	CA493393740	CREBBP	c.6177C>T (p.Pro2059=) c.6063C>T (p.Pro2021=) c.6132C>T (p.Pro2044=) c.5760C>T (p.Pro1920=) c.5916C>T (p.Pro1972=) c.6123C>T (p.Pro2041=) c.5424C>T (p.Pro1808=) c.6171C>T (p.Pro2057=)	dbSNP gnomAD v2 gnomAD v4
16	g.3728870G>C	CA493393742	CREBBP	c.6177C>G (p.Pro2059=) c.6063C>G (p.Pro2021=) c.6132C>G (p.Pro2044=) c.5760C>G (p.Pro1920=) c.5916C>G (p.Pro1972=) c.6123C>G (p.Pro2041=) c.5424C>G (p.Pro1808=) c.6171C>G (p.Pro2057=)
16	g.3728870G=	CA2202928886	CREBBP	c.6177C= (p.Pro2059=) c.6063C= (p.Pro2021=) c.6132C= (p.Pro2044=) c.5760C= (p.Pro1920=) c.5916C= (p.Pro1972=) c.6123C= (p.Pro2041=) c.5424C= (p.Pro1808=) c.6171C= (p.Pro2057=)
16	g.3728870G>T	CA493393744	CREBBP	c.6177C>A (p.Pro2059=) c.6063C>A (p.Pro2021=) c.6132C>A (p.Pro2044=) c.5760C>A (p.Pro1920=) c.5916C>A (p.Pro1972=) c.6123C>A (p.Pro2041=) c.5424C>A (p.Pro1808=) c.6171C>A (p.Pro2057=)	dbSNP
16	g.3728871G>A	CA394553959	CREBBP	c.6176C>T (p.Pro2059Leu) c.6062C>T (p.Pro2021Leu) c.6131C>T (p.Pro2044Leu) c.5759C>T (p.Pro1920Leu) c.5915C>T (p.Pro1972Leu) c.6122C>T (p.Pro2041Leu) c.5423C>T (p.Pro1808Leu) c.6170C>T (p.Pro2057Leu)	dbSNP
16	g.3728871G>C	CA394553960	CREBBP	c.6176C>G (p.Pro2059Arg) c.6062C>G (p.Pro2021Arg) c.6131C>G (p.Pro2044Arg) c.5759C>G (p.Pro1920Arg) c.5915C>G (p.Pro1972Arg) c.6122C>G (p.Pro2041Arg) c.5423C>G (p.Pro1808Arg) c.6170C>G (p.Pro2057Arg)
16	g.3728871G>T	CA394553961	CREBBP	c.6176C>A (p.Pro2059His) c.6062C>A (p.Pro2021His) c.6131C>A (p.Pro2044His) c.5759C>A (p.Pro1920His) c.5915C>A (p.Pro1972His) c.6122C>A (p.Pro2041His) c.5423C>A (p.Pro1808His) c.6170C>A (p.Pro2057His)	dbSNP
16	g.3728872G>A	CA394553962	CREBBP	c.6175C>T (p.Pro2059Ser) c.6061C>T (p.Pro2021Ser) c.6130C>T (p.Pro2044Ser) c.5758C>T (p.Pro1920Ser) c.5914C>T (p.Pro1972Ser) c.6121C>T (p.Pro2041Ser) c.5422C>T (p.Pro1808Ser) c.6169C>T (p.Pro2057Ser)	dbSNP gnomAD v3 gnomAD v4
16	g.3728872G>C	CA394553963	CREBBP	c.6175C>G (p.Pro2059Ala) c.6061C>G (p.Pro2021Ala) c.6130C>G (p.Pro2044Ala) c.5758C>G (p.Pro1920Ala) c.5914C>G (p.Pro1972Ala) c.6121C>G (p.Pro2041Ala) c.5422C>G (p.Pro1808Ala) c.6169C>G (p.Pro2057Ala)	dbSNP
16	g.3728872G=	CA2202928887	CREBBP	c.6175C= (p.Pro2059=) c.6061C= (p.Pro2021=) c.6130C= (p.Pro2044=) c.5758C= (p.Pro1920=) c.5914C= (p.Pro1972=) c.6121C= (p.Pro2041=) c.5422C= (p.Pro1808=) c.6169C= (p.Pro2057=)
16	g.3728872G>T	CA394553964	CREBBP	c.6175C>A (p.Pro2059Thr) c.6061C>A (p.Pro2021Thr) c.6130C>A (p.Pro2044Thr) c.5758C>A (p.Pro1920Thr) c.5914C>A (p.Pro1972Thr) c.6121C>A (p.Pro2041Thr) c.5422C>A (p.Pro1808Thr) c.6169C>A (p.Pro2057Thr)
16	g.3728873T>A	CA493393746	CREBBP	c.6174A>T (p.Pro2058=) c.6060A>T (p.Pro2020=) c.6129A>T (p.Pro2043=) c.5757A>T (p.Pro1919=) c.5913A>T (p.Pro1971=) c.6120A>T (p.Pro2040=) c.5421A>T (p.Pro1807=) c.6168A>T (p.Pro2056=)	dbSNP
16	g.3728873T>C	CA493393748	CREBBP	c.6174A>G (p.Pro2058=) c.6060A>G (p.Pro2020=) c.6129A>G (p.Pro2043=) c.5757A>G (p.Pro1919=) c.5913A>G (p.Pro1971=) c.6120A>G (p.Pro2040=) c.5421A>G (p.Pro1807=) c.6168A>G (p.Pro2056=)	dbSNP
16	g.3728873T>G	CA493393750	CREBBP	c.6174A>C (p.Pro2058=) c.6060A>C (p.Pro2020=) c.6129A>C (p.Pro2043=) c.5757A>C (p.Pro1919=) c.5913A>C (p.Pro1971=) c.6120A>C (p.Pro2040=) c.5421A>C (p.Pro1807=) c.6168A>C (p.Pro2056=)	dbSNP
16	g.3728874G>A	CA394553966	CREBBP	c.6173C>T (p.Pro2058Leu) c.6059C>T (p.Pro2020Leu) c.6128C>T (p.Pro2043Leu) c.5756C>T (p.Pro1919Leu) c.5912C>T (p.Pro1971Leu) c.6119C>T (p.Pro2040Leu) c.5420C>T (p.Pro1807Leu) c.6167C>T (p.Pro2056Leu)	dbSNP gnomAD v2 gnomAD v4
16	g.3728874G>C	CA394553968	CREBBP	c.6173C>G (p.Pro2058Arg) c.6059C>G (p.Pro2020Arg) c.6128C>G (p.Pro2043Arg) c.5756C>G (p.Pro1919Arg) c.5912C>G (p.Pro1971Arg) c.6119C>G (p.Pro2040Arg) c.5420C>G (p.Pro1807Arg) c.6167C>G (p.Pro2056Arg)	dbSNP gnomAD v4
16	g.3728874G=	CA2202928888	CREBBP	c.6173C= (p.Pro2058=) c.6059C= (p.Pro2020=) c.6128C= (p.Pro2043=) c.5756C= (p.Pro1919=) c.5912C= (p.Pro1971=) c.6119C= (p.Pro2040=) c.5420C= (p.Pro1807=) c.6167C= (p.Pro2056=)
16	g.3728874G>T	CA394553970	CREBBP	c.6173C>A (p.Pro2058Gln) c.6059C>A (p.Pro2020Gln) c.6128C>A (p.Pro2043Gln) c.5756C>A (p.Pro1919Gln) c.5912C>A (p.Pro1971Gln) c.6119C>A (p.Pro2040Gln) c.5420C>A (p.Pro1807Gln) c.6167C>A (p.Pro2056Gln)	dbSNP gnomAD v4
16	g.3728875G>A	CA394553976	CREBBP	c.6172C>T (p.Pro2058Ser) c.6058C>T (p.Pro2020Ser) c.6127C>T (p.Pro2043Ser) c.5755C>T (p.Pro1919Ser) c.5911C>T (p.Pro1971Ser) c.6118C>T (p.Pro2040Ser) c.5419C>T (p.Pro1807Ser) c.6166C>T (p.Pro2056Ser)
16	g.3728875G>C	CA394553974	CREBBP	c.6172C>G (p.Pro2058Ala) c.6058C>G (p.Pro2020Ala) c.6127C>G (p.Pro2043Ala) c.5755C>G (p.Pro1919Ala) c.5911C>G (p.Pro1971Ala) c.6118C>G (p.Pro2040Ala) c.5419C>G (p.Pro1807Ala) c.6166C>G (p.Pro2056Ala)
16	g.3728875G>T	CA394553972	CREBBP	c.6172C>A (p.Pro2058Thr) c.6058C>A (p.Pro2020Thr) c.6127C>A (p.Pro2043Thr) c.5755C>A (p.Pro1919Thr) c.5911C>A (p.Pro1971Thr) c.6118C>A (p.Pro2040Thr) c.5419C>A (p.Pro1807Thr) c.6166C>A (p.Pro2056Thr)
16	g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC	CA2202928889	CREBBP	c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2044=) c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2006=) c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2029=) c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1905=) c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1957=) c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2026=) c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1793=) c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2042=)
16	g.3728876C>A	CA394553977	CREBBP	c.6171G>T (p.Gln2057His) c.6057G>T (p.Gln2019His) c.6126G>T (p.Gln2042His) c.5754G>T (p.Gln1918His) c.5910G>T (p.Gln1970His) c.6117G>T (p.Gln2039His) c.5418G>T (p.Gln1806His) c.6165G>T (p.Gln2055His)
16	g.3728876C>G	CA394553978	CREBBP	c.6171G>C (p.Gln2057His) c.6057G>C (p.Gln2019His) c.6126G>C (p.Gln2042His) c.5754G>C (p.Gln1918His) c.5910G>C (p.Gln1970His) c.6117G>C (p.Gln2039His) c.5418G>C (p.Gln1806His) c.6165G>C (p.Gln2055His)
16	g.3728876C>T	CA493393753	CREBBP	c.6171G>A (p.Gln2057=) c.6057G>A (p.Gln2019=) c.6126G>A (p.Gln2042=) c.5754G>A (p.Gln1918=) c.5910G>A (p.Gln1970=) c.6117G>A (p.Gln2039=) c.5418G>A (p.Gln1806=) c.6165G>A (p.Gln2055=)	gnomAD v4
16	g.3728881_3728922del	CA271438	CREBBP	c.6130_6171del (p.Ala2044_Gln2057del) c.6016_6057del (p.Ala2006_Gln2019del) c.6085_6126del (p.Ala2029_Gln2042del) c.5713_5754del (p.Ala1905_Gln1918del) c.5869_5910del (p.Ala1957_Gln1970del) c.6076_6117del (p.Ala2026_Gln2039del) c.5377_5418del (p.Ala1793_Gln1806del) c.6124_6165del (p.Ala2042_Gln2055del)	ClinVar dbSNP
16	g.3728877T>A	CA394553979	CREBBP	c.6170A>T (p.Gln2057Leu) c.6056A>T (p.Gln2019Leu) c.6125A>T (p.Gln2042Leu) c.5753A>T (p.Gln1918Leu) c.5909A>T (p.Gln1970Leu) c.6116A>T (p.Gln2039Leu) c.5417A>T (p.Gln1806Leu) c.6164A>T (p.Gln2055Leu)	dbSNP
16	g.3728877T>C	CA394553980	CREBBP	c.6170A>G (p.Gln2057Arg) c.6056A>G (p.Gln2019Arg) c.6125A>G (p.Gln2042Arg) c.5753A>G (p.Gln1918Arg) c.5909A>G (p.Gln1970Arg) c.6116A>G (p.Gln2039Arg) c.5417A>G (p.Gln1806Arg) c.6164A>G (p.Gln2055Arg)	dbSNP
16	g.3728877T>G	CA394553981	CREBBP	c.6170A>C (p.Gln2057Pro) c.6056A>C (p.Gln2019Pro) c.6125A>C (p.Gln2042Pro) c.5753A>C (p.Gln1918Pro) c.5909A>C (p.Gln1970Pro) c.6116A>C (p.Gln2039Pro) c.5417A>C (p.Gln1806Pro) c.6164A>C (p.Gln2055Pro)	dbSNP gnomAD v4
16	g.3728878G>A	CA394553982	CREBBP	c.6169C>T (p.Gln2057Ter) c.6055C>T (p.Gln2019Ter) c.6124C>T (p.Gln2042Ter) c.5752C>T (p.Gln1918Ter) c.5908C>T (p.Gln1970Ter) c.6115C>T (p.Gln2039Ter) c.5416C>T (p.Gln1806Ter) c.6163C>T (p.Gln2055Ter)	ClinVar dbSNP gnomAD v2
16	g.3728878G>C	CA394553983	CREBBP	c.6169C>G (p.Gln2057Glu) c.6055C>G (p.Gln2019Glu) c.6124C>G (p.Gln2042Glu) c.5752C>G (p.Gln1918Glu) c.5908C>G (p.Gln1970Glu) c.6115C>G (p.Gln2039Glu) c.5416C>G (p.Gln1806Glu) c.6163C>G (p.Gln2055Glu)	dbSNP
16	g.3728878G=	CA2202928890	CREBBP	c.6169C= (p.Gln2057=) c.6055C= (p.Gln2019=) c.6124C= (p.Gln2042=) c.5752C= (p.Gln1918=) c.5908C= (p.Gln1970=) c.6115C= (p.Gln2039=) c.5416C= (p.Gln1806=) c.6163C= (p.Gln2055=)
16	g.3728878G>T	CA394553984	CREBBP	c.6169C>A (p.Gln2057Lys) c.6055C>A (p.Gln2019Lys) c.6124C>A (p.Gln2042Lys) c.5752C>A (p.Gln1918Lys) c.5908C>A (p.Gln1970Lys) c.6115C>A (p.Gln2039Lys) c.5416C>A (p.Gln1806Lys) c.6163C>A (p.Gln2055Lys)	gnomAD v4
16	g.3728879C>A	CA493393755	CREBBP	c.6168G>T (p.Val2056=) c.6054G>T (p.Val2018=) c.6123G>T (p.Val2041=) c.5751G>T (p.Val1917=) c.5907G>T (p.Val1969=) c.6114G>T (p.Val2038=) c.5415G>T (p.Val1805=) c.6162G>T (p.Val2054=)
16	g.3728879C=	CA2202928891	CREBBP	c.6168G= (p.Val2056=) c.6054G= (p.Val2018=) c.6123G= (p.Val2041=) c.5751G= (p.Val1917=) c.5907G= (p.Val1969=) c.6114G= (p.Val2038=) c.5415G= (p.Val1805=) c.6162G= (p.Val2054=)
16	g.3728879C>G	CA493393756	CREBBP	c.6168G>C (p.Val2056=) c.6054G>C (p.Val2018=) c.6123G>C (p.Val2041=) c.5751G>C (p.Val1917=) c.5907G>C (p.Val1969=) c.6114G>C (p.Val2038=) c.5415G>C (p.Val1805=) c.6162G>C (p.Val2054=)
16	g.3728879C>T	CA7869165	CREBBP	c.6168G>A (p.Val2056=) c.6054G>A (p.Val2018=) c.6123G>A (p.Val2041=) c.5751G>A (p.Val1917=) c.5907G>A (p.Val1969=) c.6114G>A (p.Val2038=) c.5415G>A (p.Val1805=) c.6162G>A (p.Val2054=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728879_3728888del	CA2731850792	CREBBP	c.6159_6168del (p.Met2053IlefsTer19) c.6045_6054del (p.Met2015IlefsTer19) c.6114_6123del (p.Met2038IlefsTer19) c.5742_5751del (p.Met1914IlefsTer19) c.5898_5907del (p.Met1966IlefsTer19) c.6105_6114del (p.Met2035IlefsTer19) c.5406_5415del (p.Met1802IlefsTer19) c.6153_6162del (p.Met2051IlefsTer19)	dbSNP
16	g.3728880A>C	CA394553986	CREBBP	c.6167T>G (p.Val2056Gly) c.6053T>G (p.Val2018Gly) c.6122T>G (p.Val2041Gly) c.5750T>G (p.Val1917Gly) c.5906T>G (p.Val1969Gly) c.6113T>G (p.Val2038Gly) c.5414T>G (p.Val1805Gly) c.6161T>G (p.Val2054Gly)
16	g.3728880A>G	CA394553987	CREBBP	c.6167T>C (p.Val2056Ala) c.6053T>C (p.Val2018Ala) c.6122T>C (p.Val2041Ala) c.5750T>C (p.Val1917Ala) c.5906T>C (p.Val1969Ala) c.6113T>C (p.Val2038Ala) c.5414T>C (p.Val1805Ala) c.6161T>C (p.Val2054Ala)
16	g.3728880A>T	CA394553988	CREBBP	c.6167T>A (p.Val2056Glu) c.6053T>A (p.Val2018Glu) c.6122T>A (p.Val2041Glu) c.5750T>A (p.Val1917Glu) c.5906T>A (p.Val1969Glu) c.6113T>A (p.Val2038Glu) c.5414T>A (p.Val1805Glu) c.6161T>A (p.Val2054Glu)
16	g.3728881del	CA2695222740	CREBBP	c.6166del (p.Val2056CysfsTer19) c.6052del (p.Val2018CysfsTer19) c.6121del (p.Val2041CysfsTer19) c.5749del (p.Val1917CysfsTer19) c.5905del (p.Val1969CysfsTer19) c.6112del (p.Val2038CysfsTer19) c.5413del (p.Val1805CysfsTer19) c.6160del (p.Val2054CysfsTer19)
16	g.3728881C>A	CA394553994	CREBBP	c.6166G>T (p.Val2056Leu) c.6052G>T (p.Val2018Leu) c.6121G>T (p.Val2041Leu) c.5749G>T (p.Val1917Leu) c.5905G>T (p.Val1969Leu) c.6112G>T (p.Val2038Leu) c.5413G>T (p.Val1805Leu) c.6160G>T (p.Val2054Leu)
16	g.3728881C=	CA2202916097	CREBBP	c.6166G= (p.Val2056=) c.6052G= (p.Val2018=) c.6121G= (p.Val2041=) c.5749G= (p.Val1917=) c.5905G= (p.Val1969=) c.6112G= (p.Val2038=) c.5413G= (p.Val1805=) c.6160G= (p.Val2054=)
16	g.3728881C>G	CA394553997	CREBBP	c.6166G>C (p.Val2056Leu) c.6052G>C (p.Val2018Leu) c.6121G>C (p.Val2041Leu) c.5749G>C (p.Val1917Leu) c.5905G>C (p.Val1969Leu) c.6112G>C (p.Val2038Leu) c.5413G>C (p.Val1805Leu) c.6160G>C (p.Val2054Leu)	dbSNP gnomAD v2 gnomAD v4
16	g.3728881C>T	CA394553989	CREBBP	c.6166G>A (p.Val2056Met) c.6052G>A (p.Val2018Met) c.6121G>A (p.Val2041Met) c.5749G>A (p.Val1917Met) c.5905G>A (p.Val1969Met) c.6112G>A (p.Val2038Met) c.5413G>A (p.Val1805Met) c.6160G>A (p.Val2054Met)	dbSNP gnomAD v2 gnomAD v4
16	g.3728882G>A	CA7869166	CREBBP	c.6165C>T (p.Ser2055=) c.6051C>T (p.Ser2017=) c.6120C>T (p.Ser2040=) c.5748C>T (p.Ser1916=) c.5904C>T (p.Ser1968=) c.6111C>T (p.Ser2037=) c.5412C>T (p.Ser1804=) c.6159C>T (p.Ser2053=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728882G>C	CA394554000	CREBBP	c.6165C>G (p.Ser2055Arg) c.6051C>G (p.Ser2017Arg) c.6120C>G (p.Ser2040Arg) c.5748C>G (p.Ser1916Arg) c.5904C>G (p.Ser1968Arg) c.6111C>G (p.Ser2037Arg) c.5412C>G (p.Ser1804Arg) c.6159C>G (p.Ser2053Arg)
16	g.3728882G=	CA2202916098	CREBBP	c.6165C= (p.Ser2055=) c.6051C= (p.Ser2017=) c.6120C= (p.Ser2040=) c.5748C= (p.Ser1916=) c.5904C= (p.Ser1968=) c.6111C= (p.Ser2037=) c.5412C= (p.Ser1804=) c.6159C= (p.Ser2053=)
16	g.3728882G>T	CA394554002	CREBBP	c.6165C>A (p.Ser2055Arg) c.6051C>A (p.Ser2017Arg) c.6120C>A (p.Ser2040Arg) c.5748C>A (p.Ser1916Arg) c.5904C>A (p.Ser1968Arg) c.6111C>A (p.Ser2037Arg) c.5412C>A (p.Ser1804Arg) c.6159C>A (p.Ser2053Arg)	gnomAD v4
16	g.3728883C>A	CA394554004	CREBBP	c.6164G>T (p.Ser2055Ile) c.6050G>T (p.Ser2017Ile) c.6119G>T (p.Ser2040Ile) c.5747G>T (p.Ser1916Ile) c.5903G>T (p.Ser1968Ile) c.6110G>T (p.Ser2037Ile) c.5411G>T (p.Ser1804Ile) c.6158G>T (p.Ser2053Ile)	dbSNP gnomAD v4
16	g.3728883C>G	CA394554006	CREBBP	c.6164G>C (p.Ser2055Thr) c.6050G>C (p.Ser2017Thr) c.6119G>C (p.Ser2040Thr) c.5747G>C (p.Ser1916Thr) c.5903G>C (p.Ser1968Thr) c.6110G>C (p.Ser2037Thr) c.5411G>C (p.Ser1804Thr) c.6158G>C (p.Ser2053Thr)	ClinVar dbSNP
16	g.3728883C>T	CA394554008	CREBBP	c.6164G>A (p.Ser2055Asn) c.6050G>A (p.Ser2017Asn) c.6119G>A (p.Ser2040Asn) c.5747G>A (p.Ser1916Asn) c.5903G>A (p.Ser1968Asn) c.6110G>A (p.Ser2037Asn) c.5411G>A (p.Ser1804Asn) c.6158G>A (p.Ser2053Asn)	dbSNP gnomAD v4
16	g.3728889_3728917del	CA2573334478	CREBBP	c.6136_6164del (p.Ala2046ArgfsTer?) c.6022_6050del (p.Ala2008ArgfsTer?) c.6091_6119del (p.Ala2031ArgfsTer?) c.5719_5747del (p.Ala1907ArgfsTer?) c.5875_5903del (p.Ala1959ArgfsTer?) c.6082_6110del (p.Ala2028ArgfsTer?) c.5383_5411del (p.Ala1795ArgfsTer?) c.6130_6158del (p.Ala2044ArgfsTer?)	dbSNP
16	g.3728884T>A	CA394554010	CREBBP	c.6163A>T (p.Ser2055Cys) c.6049A>T (p.Ser2017Cys) c.6118A>T (p.Ser2040Cys) c.5746A>T (p.Ser1916Cys) c.5902A>T (p.Ser1968Cys) c.6109A>T (p.Ser2037Cys) c.5410A>T (p.Ser1804Cys) c.6157A>T (p.Ser2053Cys)
16	g.3728884T>C	CA394554012	CREBBP	c.6163A>G (p.Ser2055Gly) c.6049A>G (p.Ser2017Gly) c.6118A>G (p.Ser2040Gly) c.5746A>G (p.Ser1916Gly) c.5902A>G (p.Ser1968Gly) c.6109A>G (p.Ser2037Gly) c.5410A>G (p.Ser1804Gly) c.6157A>G (p.Ser2053Gly)
16	g.3728884T>G	CA394554014	CREBBP	c.6163A>C (p.Ser2055Arg) c.6049A>C (p.Ser2017Arg) c.6118A>C (p.Ser2040Arg) c.5746A>C (p.Ser1916Arg) c.5902A>C (p.Ser1968Arg) c.6109A>C (p.Ser2037Arg) c.5410A>C (p.Ser1804Arg) c.6157A>C (p.Ser2053Arg)
16	g.3728885G>A	CA493393760	CREBBP	c.6162C>T (p.Pro2054=) c.6048C>T (p.Pro2016=) c.6117C>T (p.Pro2039=) c.5745C>T (p.Pro1915=) c.5901C>T (p.Pro1967=) c.6108C>T (p.Pro2036=) c.5409C>T (p.Pro1803=) c.6156C>T (p.Pro2052=)	dbSNP
16	g.3728885G>C	CA493393761	CREBBP	c.6162C>G (p.Pro2054=) c.6048C>G (p.Pro2016=) c.6117C>G (p.Pro2039=) c.5745C>G (p.Pro1915=) c.5901C>G (p.Pro1967=) c.6108C>G (p.Pro2036=) c.5409C>G (p.Pro1803=) c.6156C>G (p.Pro2052=)	dbSNP
16	g.3728885G>T	CA493393763	CREBBP	c.6162C>A (p.Pro2054=) c.6048C>A (p.Pro2016=) c.6117C>A (p.Pro2039=) c.5745C>A (p.Pro1915=) c.5901C>A (p.Pro1967=) c.6108C>A (p.Pro2036=) c.5409C>A (p.Pro1803=) c.6156C>A (p.Pro2052=)	dbSNP gnomAD v4
16	g.3728886G>A	CA394554016	CREBBP	c.6161C>T (p.Pro2054Leu) c.6047C>T (p.Pro2016Leu) c.6116C>T (p.Pro2039Leu) c.5744C>T (p.Pro1915Leu) c.5900C>T (p.Pro1967Leu) c.6107C>T (p.Pro2036Leu) c.5408C>T (p.Pro1803Leu) c.6155C>T (p.Pro2052Leu)	ClinVar dbSNP
16	g.3728886G>C	CA394554018	CREBBP	c.6161C>G (p.Pro2054Arg) c.6047C>G (p.Pro2016Arg) c.6116C>G (p.Pro2039Arg) c.5744C>G (p.Pro1915Arg) c.5900C>G (p.Pro1967Arg) c.6107C>G (p.Pro2036Arg) c.5408C>G (p.Pro1803Arg) c.6155C>G (p.Pro2052Arg)	dbSNP gnomAD v4
16	g.3728886G>T	CA394554020	CREBBP	c.6161C>A (p.Pro2054His) c.6047C>A (p.Pro2016His) c.6116C>A (p.Pro2039His) c.5744C>A (p.Pro1915His) c.5900C>A (p.Pro1967His) c.6107C>A (p.Pro2036His) c.5408C>A (p.Pro1803His) c.6155C>A (p.Pro2052His)

Number of alleles fetched