Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3728612_3728677del	CA2631402539	CREBBP	c.6373_6438del (p.Pro2125_Gln2146del) c.6259_6324del (p.Pro2087_Gln2108del) c.6328_6393del (p.Pro2110_Gln2131del) c.5956_6021del (p.Pro1986_Gln2007del) c.6112_6177del (p.Pro2038_Gln2059del) c.6319_6384del (p.Pro2107_Gln2128del) c.5620_5685del (p.Pro1874_Gln1895del) c.6367_6432del (p.Pro2123_Gln2144del)	gnomAD v4
16	g.3728639_3728661dup	CA276936	CREBBP	c.6395_6417dup (p.Gln2140AlafsTer11) c.6281_6303dup (p.Gln2102AlafsTer11) c.6350_6372dup (p.Gln2125AlafsTer11) c.5978_6000dup (p.Gln2001AlafsTer11) c.6134_6156dup (p.Gln2053AlafsTer11) c.6341_6363dup (p.Gln2122AlafsTer11) c.5642_5664dup (p.Gln1889AlafsTer11) c.6389_6411dup (p.Gln2138AlafsTer11)	ClinVar dbSNP
16	g.3728639_3728661del	CA915949057	CREBBP	c.6395_6417del (p.Gly2132AlafsTer?) c.6281_6303del (p.Gly2094AlafsTer?) c.6350_6372del (p.Gly2117AlafsTer?) c.5978_6000del (p.Gly1993AlafsTer?) c.6134_6156del (p.Gly2045AlafsTer?) c.6341_6363del (p.Gly2114AlafsTer?) c.5642_5664del (p.Gly1881AlafsTer?) c.6389_6411del (p.Gly2130AlafsTer?)	ClinVar dbSNP
16	g.3728645_3728662dup	CA2631402642	CREBBP	c.6386_6403dup (p.His2134_Gln2135insProGlnProGlyMetHis) c.6272_6289dup (p.His2096_Gln2097insProGlnProGlyMetHis) c.6341_6358dup (p.His2119_Gln2120insProGlnProGlyMetHis) c.5969_5986dup (p.His1995_Gln1996insProGlnProGlyMetHis) c.6125_6142dup (p.His2047_Gln2048insProGlnProGlyMetHis) c.6332_6349dup (p.His2116_Gln2117insProGlnProGlyMetHis) c.5633_5650dup (p.His1883_Gln1884insProGlnProGlyMetHis) c.6380_6397dup (p.His2132_Gln2133insProGlnProGlyMetHis)	gnomAD v4
16	g.3728645_3728663delinsGTGCATGCCAGGCTGGGGT	CA2202928786	CREBBP	c.6384_6402delinsACCCCAGCCTGGCATGCAC (p.Gln2128=) c.6270_6288delinsACCCCAGCCTGGCATGCAC (p.Gln2090=) c.6339_6357delinsACCCCAGCCTGGCATGCAC (p.Gln2113=) c.5967_5985delinsACCCCAGCCTGGCATGCAC (p.Gln1989=) c.6123_6141delinsACCCCAGCCTGGCATGCAC (p.Gln2041=) c.6330_6348delinsACCCCAGCCTGGCATGCAC (p.Gln2110=) c.5631_5649delinsACCCCAGCCTGGCATGCAC (p.Gln1877=) c.6378_6396delinsACCCCAGCCTGGCATGCAC (p.Gln2126=)
16	g.3728654_3728671dup	CA7869121	CREBBP	c.6384_6401dup (p.Met2133_His2134insGlnProGlnProGlyMet) c.6270_6287dup (p.Met2095_His2096insGlnProGlnProGlyMet) c.6339_6356dup (p.Met2118_His2119insGlnProGlnProGlyMet) c.5967_5984dup (p.Met1994_His1995insGlnProGlnProGlyMet) c.6123_6140dup (p.Met2046_His2047insGlnProGlnProGlyMet) c.6330_6347dup (p.Met2115_His2116insGlnProGlnProGlyMet) c.5631_5648dup (p.Met1882_His1883insGlnProGlnProGlyMet) c.6378_6395dup (p.Met2131_His2132insGlnProGlnProGlyMet)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728654_3728671del	CA7869120	CREBBP	c.6384_6401del (p.Gln2128_Met2133del) c.6270_6287del (p.Gln2090_Met2095del) c.6339_6356del (p.Gln2113_Met2118del) c.5967_5984del (p.Gln1989_Met1994del) c.6123_6140del (p.Gln2041_Met2046del) c.6330_6347del (p.Gln2110_Met2115del) c.5631_5648del (p.Gln1877_Met1882del) c.6378_6395del (p.Gln2126_Met2131del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728650_3728686delinsTGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAG	CA2202928790	CREBBP	c.6361_6397delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2121=) c.6247_6283delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2083=) c.6316_6352delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2106=) c.5944_5980delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu1982=) c.6100_6136delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2034=) c.6307_6343delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2103=) c.5608_5644delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu1870=) c.6355_6391delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2119=)
16	g.3728663_3728698del	CA7869122	CREBBP	c.6361_6396del (p.Leu2121_Gly2132del) c.6247_6282del (p.Leu2083_Gly2094del) c.6316_6351del (p.Leu2106_Gly2117del) c.5944_5979del (p.Leu1982_Gly1993del) c.6100_6135del (p.Leu2034_Gly2045del) c.6307_6342del (p.Leu2103_Gly2114del) c.5608_5643del (p.Leu1870_Gly1881del) c.6355_6390del (p.Leu2119_Gly2130del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728662_3728679dup	CA2580612710	CREBBP	c.6375_6392dup (p.Pro2131_Gly2132insGlyMetGlnProGlnPro) c.6261_6278dup (p.Pro2093_Gly2094insGlyMetGlnProGlnPro) c.6330_6347dup (p.Pro2116_Gly2117insGlyMetGlnProGlnPro) c.5958_5975dup (p.Pro1992_Gly1993insGlyMetGlnProGlnPro) c.6114_6131dup (p.Pro2044_Gly2045insGlyMetGlnProGlnPro) c.6321_6338dup (p.Pro2113_Gly2114insGlyMetGlnProGlnPro) c.5622_5639dup (p.Pro1880_Gly1881insGlyMetGlnProGlnPro) c.6369_6386dup (p.Pro2129_Gly2130insGlyMetGlnProGlnPro)	ClinVar
16	g.3728662_3728679del	CA2631402707	CREBBP	c.6375_6392del (p.Gly2126_Pro2131del) c.6261_6278del (p.Gly2088_Pro2093del) c.6330_6347del (p.Gly2111_Pro2116del) c.5958_5975del (p.Gly1987_Pro1992del) c.6114_6131del (p.Gly2039_Pro2044del) c.6321_6338del (p.Gly2108_Pro2113del) c.5622_5639del (p.Gly1875_Pro1880del) c.6369_6386del (p.Gly2124_Pro2129del)	gnomAD v4
16	g.3728660G>A	CA493393551	CREBBP	c.6387C>T (p.Pro2129=) c.6273C>T (p.Pro2091=) c.6342C>T (p.Pro2114=) c.5970C>T (p.Pro1990=) c.6126C>T (p.Pro2042=) c.6333C>T (p.Pro2111=) c.5634C>T (p.Pro1878=) c.6381C>T (p.Pro2127=)	dbSNP
16	g.3728660G>C	CA493393549	CREBBP	c.6387C>G (p.Pro2129=) c.6273C>G (p.Pro2091=) c.6342C>G (p.Pro2114=) c.5970C>G (p.Pro1990=) c.6126C>G (p.Pro2042=) c.6333C>G (p.Pro2111=) c.5634C>G (p.Pro1878=) c.6381C>G (p.Pro2127=)	dbSNP
16	g.3728660G=	CA2202928799	CREBBP	c.6387C= (p.Pro2129=) c.6273C= (p.Pro2091=) c.6342C= (p.Pro2114=) c.5970C= (p.Pro1990=) c.6126C= (p.Pro2042=) c.6333C= (p.Pro2111=) c.5634C= (p.Pro1878=) c.6381C= (p.Pro2127=)
16	g.3728660G>T	CA493393550	CREBBP	c.6387C>A (p.Pro2129=) c.6273C>A (p.Pro2091=) c.6342C>A (p.Pro2114=) c.5970C>A (p.Pro1990=) c.6126C>A (p.Pro2042=) c.6333C>A (p.Pro2111=) c.5634C>A (p.Pro1878=) c.6381C>A (p.Pro2127=)	dbSNP gnomAD v3 gnomAD v4
16	g.3728661G>A	CA394553505	CREBBP	c.6386C>T (p.Pro2129Leu) c.6272C>T (p.Pro2091Leu) c.6341C>T (p.Pro2114Leu) c.5969C>T (p.Pro1990Leu) c.6125C>T (p.Pro2042Leu) c.6332C>T (p.Pro2111Leu) c.5633C>T (p.Pro1878Leu) c.6380C>T (p.Pro2127Leu)	dbSNP
16	g.3728661G>C	CA394553503	CREBBP	c.6386C>G (p.Pro2129Arg) c.6272C>G (p.Pro2091Arg) c.6341C>G (p.Pro2114Arg) c.5969C>G (p.Pro1990Arg) c.6125C>G (p.Pro2042Arg) c.6332C>G (p.Pro2111Arg) c.5633C>G (p.Pro1878Arg) c.6380C>G (p.Pro2127Arg)
16	g.3728661G>T	CA394553504	CREBBP	c.6386C>A (p.Pro2129His) c.6272C>A (p.Pro2091His) c.6341C>A (p.Pro2114His) c.5969C>A (p.Pro1990His) c.6125C>A (p.Pro2042His) c.6332C>A (p.Pro2111His) c.5633C>A (p.Pro1878His) c.6380C>A (p.Pro2127His)	dbSNP
16	g.3728662G>A	CA394553506	CREBBP	c.6385C>T (p.Pro2129Ser) c.6271C>T (p.Pro2091Ser) c.6340C>T (p.Pro2114Ser) c.5968C>T (p.Pro1990Ser) c.6124C>T (p.Pro2042Ser) c.6331C>T (p.Pro2111Ser) c.5632C>T (p.Pro1878Ser) c.6379C>T (p.Pro2127Ser)
16	g.3728662G>C	CA394553507	CREBBP	c.6385C>G (p.Pro2129Ala) c.6271C>G (p.Pro2091Ala) c.6340C>G (p.Pro2114Ala) c.5968C>G (p.Pro1990Ala) c.6124C>G (p.Pro2042Ala) c.6331C>G (p.Pro2111Ala) c.5632C>G (p.Pro1878Ala) c.6379C>G (p.Pro2127Ala)
16	g.3728662G>T	CA394553508	CREBBP	c.6385C>A (p.Pro2129Thr) c.6271C>A (p.Pro2091Thr) c.6340C>A (p.Pro2114Thr) c.5968C>A (p.Pro1990Thr) c.6124C>A (p.Pro2042Thr) c.6331C>A (p.Pro2111Thr) c.5632C>A (p.Pro1878Thr) c.6379C>A (p.Pro2127Thr)
16	g.3728663T>A	CA394553509	CREBBP	c.6384A>T (p.Gln2128His) c.6270A>T (p.Gln2090His) c.6339A>T (p.Gln2113His) c.5967A>T (p.Gln1989His) c.6123A>T (p.Gln2041His) c.6330A>T (p.Gln2110His) c.5631A>T (p.Gln1877His) c.6378A>T (p.Gln2126His)	dbSNP
16	g.3728663T>C	CA493393553	CREBBP	c.6384A>G (p.Gln2128=) c.6270A>G (p.Gln2090=) c.6339A>G (p.Gln2113=) c.5967A>G (p.Gln1989=) c.6123A>G (p.Gln2041=) c.6330A>G (p.Gln2110=) c.5631A>G (p.Gln1877=) c.6378A>G (p.Gln2126=)	dbSNP
16	g.3728663T>G	CA394553510	CREBBP	c.6384A>C (p.Gln2128His) c.6270A>C (p.Gln2090His) c.6339A>C (p.Gln2113His) c.5967A>C (p.Gln1989His) c.6123A>C (p.Gln2041His) c.6330A>C (p.Gln2110His) c.5631A>C (p.Gln1877His) c.6378A>C (p.Gln2126His)	dbSNP
16	g.3728663T=	CA2202928800	CREBBP	c.6384A= (p.Gln2128=) c.6270A= (p.Gln2090=) c.6339A= (p.Gln2113=) c.5967A= (p.Gln1989=) c.6123A= (p.Gln2041=) c.6330A= (p.Gln2110=) c.5631A= (p.Gln1877=) c.6378A= (p.Gln2126=)
16	g.3728663_3728699delinsTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGC	CA2202928801	CREBBP	c.6348_6384delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2116=) c.6234_6270delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2078=) c.6303_6339delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2101=) c.5931_5967delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln1977=) c.6087_6123delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2029=) c.6294_6330delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2098=) c.5595_5631delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln1865=) c.6342_6378delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2114=)
16	g.3728664T>A	CA394553511	CREBBP	c.6383A>T (p.Gln2128Leu) c.6269A>T (p.Gln2090Leu) c.6338A>T (p.Gln2113Leu) c.5966A>T (p.Gln1989Leu) c.6122A>T (p.Gln2041Leu) c.6329A>T (p.Gln2110Leu) c.5630A>T (p.Gln1877Leu) c.6377A>T (p.Gln2126Leu)	dbSNP
16	g.3728664T>C	CA394553512	CREBBP	c.6383A>G (p.Gln2128Arg) c.6269A>G (p.Gln2090Arg) c.6338A>G (p.Gln2113Arg) c.5966A>G (p.Gln1989Arg) c.6122A>G (p.Gln2041Arg) c.6329A>G (p.Gln2110Arg) c.5630A>G (p.Gln1877Arg) c.6377A>G (p.Gln2126Arg)
16	g.3728664T>G	CA394553513	CREBBP	c.6383A>C (p.Gln2128Pro) c.6269A>C (p.Gln2090Pro) c.6338A>C (p.Gln2113Pro) c.5966A>C (p.Gln1989Pro) c.6122A>C (p.Gln2041Pro) c.6329A>C (p.Gln2110Pro) c.5630A>C (p.Gln1877Pro) c.6377A>C (p.Gln2126Pro)	dbSNP gnomAD v4
16	g.3728678_3728713dup	CA973904133	CREBBP	c.6348_6383dup (p.Gln2128_Pro2129insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6234_6269dup (p.Gln2090_Pro2091insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6303_6338dup (p.Gln2113_Pro2114insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.5931_5966dup (p.Gln1989_Pro1990insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6087_6122dup (p.Gln2041_Pro2042insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6294_6329dup (p.Gln2110_Pro2111insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.5595_5630dup (p.Gln1877_Pro1878insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6342_6377dup (p.Gln2126_Pro2127insProGlnProGlyLeuGlnSerGlnProGlyMetGln)	ClinVar dbSNP gnomAD v4
16	g.3728678_3728713del	CA7869126	CREBBP	c.6348_6383del (p.Pro2117_Gln2128del) c.6234_6269del (p.Pro2079_Gln2090del) c.6303_6338del (p.Pro2102_Gln2113del) c.5931_5966del (p.Pro1978_Gln1989del) c.6087_6122del (p.Pro2030_Gln2041del) c.6294_6329del (p.Pro2099_Gln2110del) c.5595_5630del (p.Pro1866_Gln1877del) c.6342_6377del (p.Pro2115_Gln2126del)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728665G>A	CA394553516	CREBBP	c.6382C>T (p.Gln2128Ter) c.6268C>T (p.Gln2090Ter) c.6337C>T (p.Gln2113Ter) c.5965C>T (p.Gln1989Ter) c.6121C>T (p.Gln2041Ter) c.6328C>T (p.Gln2110Ter) c.5629C>T (p.Gln1877Ter) c.6376C>T (p.Gln2126Ter)	dbSNP
16	g.3728665G>C	CA394553515	CREBBP	c.6382C>G (p.Gln2128Glu) c.6268C>G (p.Gln2090Glu) c.6337C>G (p.Gln2113Glu) c.5965C>G (p.Gln1989Glu) c.6121C>G (p.Gln2041Glu) c.6328C>G (p.Gln2110Glu) c.5629C>G (p.Gln1877Glu) c.6376C>G (p.Gln2126Glu)	dbSNP
16	g.3728665G>T	CA394553514	CREBBP	c.6382C>A (p.Gln2128Lys) c.6268C>A (p.Gln2090Lys) c.6337C>A (p.Gln2113Lys) c.5965C>A (p.Gln1989Lys) c.6121C>A (p.Gln2041Lys) c.6328C>A (p.Gln2110Lys) c.5629C>A (p.Gln1877Lys) c.6376C>A (p.Gln2126Lys)
16	g.3728666C>A	CA394553517	CREBBP	c.6381G>T (p.Met2127Ile) c.6267G>T (p.Met2089Ile) c.6336G>T (p.Met2112Ile) c.5964G>T (p.Met1988Ile) c.6120G>T (p.Met2040Ile) c.6327G>T (p.Met2109Ile) c.5628G>T (p.Met1876Ile) c.6375G>T (p.Met2125Ile)
16	g.3728666C=	CA2202928802	CREBBP	c.6381G= (p.Met2127=) c.6267G= (p.Met2089=) c.6336G= (p.Met2112=) c.5964G= (p.Met1988=) c.6120G= (p.Met2040=) c.6327G= (p.Met2109=) c.5628G= (p.Met1876=) c.6375G= (p.Met2125=)
16	g.3728666C>G	CA394553518	CREBBP	c.6381G>C (p.Met2127Ile) c.6267G>C (p.Met2089Ile) c.6336G>C (p.Met2112Ile) c.5964G>C (p.Met1988Ile) c.6120G>C (p.Met2040Ile) c.6327G>C (p.Met2109Ile) c.5628G>C (p.Met1876Ile) c.6375G>C (p.Met2125Ile)	dbSNP
16	g.3728666C>T	CA394553519	CREBBP	c.6381G>A (p.Met2127Ile) c.6267G>A (p.Met2089Ile) c.6336G>A (p.Met2112Ile) c.5964G>A (p.Met1988Ile) c.6120G>A (p.Met2040Ile) c.6327G>A (p.Met2109Ile) c.5628G>A (p.Met1876Ile) c.6375G>A (p.Met2125Ile)	dbSNP
16	g.3728667A>C	CA394553520	CREBBP	c.6380T>G (p.Met2127Arg) c.6266T>G (p.Met2089Arg) c.6335T>G (p.Met2112Arg) c.5963T>G (p.Met1988Arg) c.6119T>G (p.Met2040Arg) c.6326T>G (p.Met2109Arg) c.5627T>G (p.Met1876Arg) c.6374T>G (p.Met2125Arg)
16	g.3728667A>G	CA394553521	CREBBP	c.6380T>C (p.Met2127Thr) c.6266T>C (p.Met2089Thr) c.6335T>C (p.Met2112Thr) c.5963T>C (p.Met1988Thr) c.6119T>C (p.Met2040Thr) c.6326T>C (p.Met2109Thr) c.5627T>C (p.Met1876Thr) c.6374T>C (p.Met2125Thr)	gnomAD v4
16	g.3728667A>T	CA394553522	CREBBP	c.6380T>A (p.Met2127Lys) c.6266T>A (p.Met2089Lys) c.6335T>A (p.Met2112Lys) c.5963T>A (p.Met1988Lys) c.6119T>A (p.Met2040Lys) c.6326T>A (p.Met2109Lys) c.5627T>A (p.Met1876Lys) c.6374T>A (p.Met2125Lys)	dbSNP
16	g.3728668T>A	CA394553523	CREBBP	c.6379A>T (p.Met2127Leu) c.6265A>T (p.Met2089Leu) c.6334A>T (p.Met2112Leu) c.5962A>T (p.Met1988Leu) c.6118A>T (p.Met2040Leu) c.6325A>T (p.Met2109Leu) c.5626A>T (p.Met1876Leu) c.6373A>T (p.Met2125Leu)
16	g.3728668T>C	CA394553524	CREBBP	c.6379A>G (p.Met2127Val) c.6265A>G (p.Met2089Val) c.6334A>G (p.Met2112Val) c.5962A>G (p.Met1988Val) c.6118A>G (p.Met2040Val) c.6325A>G (p.Met2109Val) c.5626A>G (p.Met1876Val) c.6373A>G (p.Met2125Val)
16	g.3728668T>G	CA394553525	CREBBP	c.6379A>C (p.Met2127Leu) c.6265A>C (p.Met2089Leu) c.6334A>C (p.Met2112Leu) c.5962A>C (p.Met1988Leu) c.6118A>C (p.Met2040Leu) c.6325A>C (p.Met2109Leu) c.5626A>C (p.Met1876Leu) c.6373A>C (p.Met2125Leu)	gnomAD v4
16	g.3728669G>A	CA493393563	CREBBP	c.6378C>T (p.Gly2126=) c.6264C>T (p.Gly2088=) c.6333C>T (p.Gly2111=) c.5961C>T (p.Gly1987=) c.6117C>T (p.Gly2039=) c.6324C>T (p.Gly2108=) c.5625C>T (p.Gly1875=) c.6372C>T (p.Gly2124=)	dbSNP gnomAD v4
16	g.3728669G>C	CA493393561	CREBBP	c.6378C>G (p.Gly2126=) c.6264C>G (p.Gly2088=) c.6333C>G (p.Gly2111=) c.5961C>G (p.Gly1987=) c.6117C>G (p.Gly2039=) c.6324C>G (p.Gly2108=) c.5625C>G (p.Gly1875=) c.6372C>G (p.Gly2124=)
16	g.3728669G=	CA2202928803	CREBBP	c.6378C= (p.Gly2126=) c.6264C= (p.Gly2088=) c.6333C= (p.Gly2111=) c.5961C= (p.Gly1987=) c.6117C= (p.Gly2039=) c.6324C= (p.Gly2108=) c.5625C= (p.Gly1875=) c.6372C= (p.Gly2124=)
16	g.3728669G>T	CA493393562	CREBBP	c.6378C>A (p.Gly2126=) c.6264C>A (p.Gly2088=) c.6333C>A (p.Gly2111=) c.5961C>A (p.Gly1987=) c.6117C>A (p.Gly2039=) c.6324C>A (p.Gly2108=) c.5625C>A (p.Gly1875=) c.6372C>A (p.Gly2124=)	ClinVar
16	g.3728670C>A	CA394553526	CREBBP	c.6377G>T (p.Gly2126Val) c.6263G>T (p.Gly2088Val) c.6332G>T (p.Gly2111Val) c.5960G>T (p.Gly1987Val) c.6116G>T (p.Gly2039Val) c.6323G>T (p.Gly2108Val) c.5624G>T (p.Gly1875Val) c.6371G>T (p.Gly2124Val)	dbSNP
16	g.3728670C=	CA2202928804	CREBBP	c.6377G= (p.Gly2126=) c.6263G= (p.Gly2088=) c.6332G= (p.Gly2111=) c.5960G= (p.Gly1987=) c.6116G= (p.Gly2039=) c.6323G= (p.Gly2108=) c.5624G= (p.Gly1875=) c.6371G= (p.Gly2124=)
16	g.3728670C>G	CA394553527	CREBBP	c.6377G>C (p.Gly2126Ala) c.6263G>C (p.Gly2088Ala) c.6332G>C (p.Gly2111Ala) c.5960G>C (p.Gly1987Ala) c.6116G>C (p.Gly2039Ala) c.6323G>C (p.Gly2108Ala) c.5624G>C (p.Gly1875Ala) c.6371G>C (p.Gly2124Ala)	dbSNP
16	g.3728670C>T	CA394553528	CREBBP	c.6377G>A (p.Gly2126Asp) c.6263G>A (p.Gly2088Asp) c.6332G>A (p.Gly2111Asp) c.5960G>A (p.Gly1987Asp) c.6116G>A (p.Gly2039Asp) c.6323G>A (p.Gly2108Asp) c.5624G>A (p.Gly1875Asp) c.6371G>A (p.Gly2124Asp)	dbSNP
16	g.3728671C>A	CA7869128	CREBBP	c.6376G>T (p.Gly2126Cys) c.6262G>T (p.Gly2088Cys) c.6331G>T (p.Gly2111Cys) c.5959G>T (p.Gly1987Cys) c.6115G>T (p.Gly2039Cys) c.6322G>T (p.Gly2108Cys) c.5623G>T (p.Gly1875Cys) c.6370G>T (p.Gly2124Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728671C=	CA2202928805	CREBBP	c.6376G= (p.Gly2126=) c.6262G= (p.Gly2088=) c.6331G= (p.Gly2111=) c.5959G= (p.Gly1987=) c.6115G= (p.Gly2039=) c.6322G= (p.Gly2108=) c.5623G= (p.Gly1875=) c.6370G= (p.Gly2124=)
16	g.3728671C>G	CA7869127	CREBBP	c.6376G>C (p.Gly2126Arg) c.6262G>C (p.Gly2088Arg) c.6331G>C (p.Gly2111Arg) c.5959G>C (p.Gly1987Arg) c.6115G>C (p.Gly2039Arg) c.6322G>C (p.Gly2108Arg) c.5623G>C (p.Gly1875Arg) c.6370G>C (p.Gly2124Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728671C>T	CA276971633	CREBBP	c.6376G>A (p.Gly2126Ser) c.6262G>A (p.Gly2088Ser) c.6331G>A (p.Gly2111Ser) c.5959G>A (p.Gly1987Ser) c.6115G>A (p.Gly2039Ser) c.6322G>A (p.Gly2108Ser) c.5623G>A (p.Gly1875Ser) c.6370G>A (p.Gly2124Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728672G>A	CA7869129	CREBBP	c.6375C>T (p.Pro2125=) c.6261C>T (p.Pro2087=) c.6330C>T (p.Pro2110=) c.5958C>T (p.Pro1986=) c.6114C>T (p.Pro2038=) c.6321C>T (p.Pro2107=) c.5622C>T (p.Pro1874=) c.6369C>T (p.Pro2123=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728672G>C	CA7869130	CREBBP	c.6375C>G (p.Pro2125=) c.6261C>G (p.Pro2087=) c.6330C>G (p.Pro2110=) c.5958C>G (p.Pro1986=) c.6114C>G (p.Pro2038=) c.6321C>G (p.Pro2107=) c.5622C>G (p.Pro1874=) c.6369C>G (p.Pro2123=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728672G=	CA2202928806	CREBBP	c.6375C= (p.Pro2125=) c.6261C= (p.Pro2087=) c.6330C= (p.Pro2110=) c.5958C= (p.Pro1986=) c.6114C= (p.Pro2038=) c.6321C= (p.Pro2107=) c.5622C= (p.Pro1874=) c.6369C= (p.Pro2123=)
16	g.3728672G>T	CA7869131	CREBBP	c.6375C>A (p.Pro2125=) c.6261C>A (p.Pro2087=) c.6330C>A (p.Pro2110=) c.5958C>A (p.Pro1986=) c.6114C>A (p.Pro2038=) c.6321C>A (p.Pro2107=) c.5622C>A (p.Pro1874=) c.6369C>A (p.Pro2123=)	dbSNP ExAC gnomAD v2
16	g.3728673G>A	CA394553529	CREBBP	c.6374C>T (p.Pro2125Leu) c.6260C>T (p.Pro2087Leu) c.6329C>T (p.Pro2110Leu) c.5957C>T (p.Pro1986Leu) c.6113C>T (p.Pro2038Leu) c.6320C>T (p.Pro2107Leu) c.5621C>T (p.Pro1874Leu) c.6368C>T (p.Pro2123Leu)	dbSNP
16	g.3728673G>C	CA394553530	CREBBP	c.6374C>G (p.Pro2125Arg) c.6260C>G (p.Pro2087Arg) c.6329C>G (p.Pro2110Arg) c.5957C>G (p.Pro1986Arg) c.6113C>G (p.Pro2038Arg) c.6320C>G (p.Pro2107Arg) c.5621C>G (p.Pro1874Arg) c.6368C>G (p.Pro2123Arg)	dbSNP
16	g.3728673G=	CA2202928807	CREBBP	c.6374C= (p.Pro2125=) c.6260C= (p.Pro2087=) c.6329C= (p.Pro2110=) c.5957C= (p.Pro1986=) c.6113C= (p.Pro2038=) c.6320C= (p.Pro2107=) c.5621C= (p.Pro1874=) c.6368C= (p.Pro2123=)
16	g.3728673G>T	CA394553531	CREBBP	c.6374C>A (p.Pro2125His) c.6260C>A (p.Pro2087His) c.6329C>A (p.Pro2110His) c.5957C>A (p.Pro1986His) c.6113C>A (p.Pro2038His) c.6320C>A (p.Pro2107His) c.5621C>A (p.Pro1874His) c.6368C>A (p.Pro2123His)	dbSNP gnomAD v4
16	g.3728674G>A	CA394553532	CREBBP	c.6373C>T (p.Pro2125Ser) c.6259C>T (p.Pro2087Ser) c.6328C>T (p.Pro2110Ser) c.5956C>T (p.Pro1986Ser) c.6112C>T (p.Pro2038Ser) c.6319C>T (p.Pro2107Ser) c.5620C>T (p.Pro1874Ser) c.6367C>T (p.Pro2123Ser)	dbSNP
16	g.3728674G>C	CA394553533	CREBBP	c.6373C>G (p.Pro2125Ala) c.6259C>G (p.Pro2087Ala) c.6328C>G (p.Pro2110Ala) c.5956C>G (p.Pro1986Ala) c.6112C>G (p.Pro2038Ala) c.6319C>G (p.Pro2107Ala) c.5620C>G (p.Pro1874Ala) c.6367C>G (p.Pro2123Ala)	dbSNP
16	g.3728674G>T	CA394553534	CREBBP	c.6373C>A (p.Pro2125Thr) c.6259C>A (p.Pro2087Thr) c.6328C>A (p.Pro2110Thr) c.5956C>A (p.Pro1986Thr) c.6112C>A (p.Pro2038Thr) c.6319C>A (p.Pro2107Thr) c.5620C>A (p.Pro1874Thr) c.6367C>A (p.Pro2123Thr)
16	g.3728675C>A	CA394553535	CREBBP	c.6372G>T (p.Gln2124His) c.6258G>T (p.Gln2086His) c.6327G>T (p.Gln2109His) c.5955G>T (p.Gln1985His) c.6111G>T (p.Gln2037His) c.6318G>T (p.Gln2106His) c.5619G>T (p.Gln1873His) c.6366G>T (p.Gln2122His)	dbSNP
16	g.3728675C=	CA2202928808	CREBBP	c.6372G= (p.Gln2124=) c.6258G= (p.Gln2086=) c.6327G= (p.Gln2109=) c.5955G= (p.Gln1985=) c.6111G= (p.Gln2037=) c.6318G= (p.Gln2106=) c.5619G= (p.Gln1873=) c.6366G= (p.Gln2122=)
16	g.3728675C>G	CA276971636	CREBBP	c.6372G>C (p.Gln2124His) c.6258G>C (p.Gln2086His) c.6327G>C (p.Gln2109His) c.5955G>C (p.Gln1985His) c.6111G>C (p.Gln2037His) c.6318G>C (p.Gln2106His) c.5619G>C (p.Gln1873His) c.6366G>C (p.Gln2122His)	dbSNP gnomAD v4
16	g.3728675C>T	CA493393570	CREBBP	c.6372G>A (p.Gln2124=) c.6258G>A (p.Gln2086=) c.6327G>A (p.Gln2109=) c.5955G>A (p.Gln1985=) c.6111G>A (p.Gln2037=) c.6318G>A (p.Gln2106=) c.5619G>A (p.Gln1873=) c.6366G>A (p.Gln2122=)	ClinVar dbSNP
16	g.3728676T>A	CA394553537	CREBBP	c.6371A>T (p.Gln2124Leu) c.6257A>T (p.Gln2086Leu) c.6326A>T (p.Gln2109Leu) c.5954A>T (p.Gln1985Leu) c.6110A>T (p.Gln2037Leu) c.6317A>T (p.Gln2106Leu) c.5618A>T (p.Gln1873Leu) c.6365A>T (p.Gln2122Leu)
16	g.3728676T>C	CA394553538	CREBBP	c.6371A>G (p.Gln2124Arg) c.6257A>G (p.Gln2086Arg) c.6326A>G (p.Gln2109Arg) c.5954A>G (p.Gln1985Arg) c.6110A>G (p.Gln2037Arg) c.6317A>G (p.Gln2106Arg) c.5618A>G (p.Gln1873Arg) c.6365A>G (p.Gln2122Arg)	dbSNP gnomAD v4
16	g.3728676T>G	CA394553536	CREBBP	c.6371A>C (p.Gln2124Pro) c.6257A>C (p.Gln2086Pro) c.6326A>C (p.Gln2109Pro) c.5954A>C (p.Gln1985Pro) c.6110A>C (p.Gln2037Pro) c.6317A>C (p.Gln2106Pro) c.5618A>C (p.Gln1873Pro) c.6365A>C (p.Gln2122Pro)
16	g.3728677G>A	CA394553541	CREBBP	c.6370C>T (p.Gln2124Ter) c.6256C>T (p.Gln2086Ter) c.6325C>T (p.Gln2109Ter) c.5953C>T (p.Gln1985Ter) c.6109C>T (p.Gln2037Ter) c.6316C>T (p.Gln2106Ter) c.5617C>T (p.Gln1873Ter) c.6364C>T (p.Gln2122Ter)
16	g.3728677G>C	CA394553539	CREBBP	c.6370C>G (p.Gln2124Glu) c.6256C>G (p.Gln2086Glu) c.6325C>G (p.Gln2109Glu) c.5953C>G (p.Gln1985Glu) c.6109C>G (p.Gln2037Glu) c.6316C>G (p.Gln2106Glu) c.5617C>G (p.Gln1873Glu) c.6364C>G (p.Gln2122Glu)
16	g.3728677G>T	CA394553540	CREBBP	c.6370C>A (p.Gln2124Lys) c.6256C>A (p.Gln2086Lys) c.6325C>A (p.Gln2109Lys) c.5953C>A (p.Gln1985Lys) c.6109C>A (p.Gln2037Lys) c.6316C>A (p.Gln2106Lys) c.5617C>A (p.Gln1873Lys) c.6364C>A (p.Gln2122Lys)
16	g.3728678G>A	CA493393573	CREBBP	c.6369C>T (p.Ser2123=) c.6255C>T (p.Ser2085=) c.6324C>T (p.Ser2108=) c.5952C>T (p.Ser1984=) c.6108C>T (p.Ser2036=) c.6315C>T (p.Ser2105=) c.5616C>T (p.Ser1872=) c.6363C>T (p.Ser2121=)	dbSNP
16	g.3728678G>C	CA493393574	CREBBP	c.6369C>G (p.Ser2123=) c.6255C>G (p.Ser2085=) c.6324C>G (p.Ser2108=) c.5952C>G (p.Ser1984=) c.6108C>G (p.Ser2036=) c.6315C>G (p.Ser2105=) c.5616C>G (p.Ser1872=) c.6363C>G (p.Ser2121=)	dbSNP
16	g.3728678G>T	CA493393575	CREBBP	c.6369C>A (p.Ser2123=) c.6255C>A (p.Ser2085=) c.6324C>A (p.Ser2108=) c.5952C>A (p.Ser1984=) c.6108C>A (p.Ser2036=) c.6315C>A (p.Ser2105=) c.5616C>A (p.Ser1872=) c.6363C>A (p.Ser2121=)	dbSNP
16	g.3728679G>A	CA394553542	CREBBP	c.6368C>T (p.Ser2123Phe) c.6254C>T (p.Ser2085Phe) c.6323C>T (p.Ser2108Phe) c.5951C>T (p.Ser1984Phe) c.6107C>T (p.Ser2036Phe) c.6314C>T (p.Ser2105Phe) c.5615C>T (p.Ser1872Phe) c.6362C>T (p.Ser2121Phe)	dbSNP gnomAD v4
16	g.3728679G>C	CA394553543	CREBBP	c.6368C>G (p.Ser2123Cys) c.6254C>G (p.Ser2085Cys) c.6323C>G (p.Ser2108Cys) c.5951C>G (p.Ser1984Cys) c.6107C>G (p.Ser2036Cys) c.6314C>G (p.Ser2105Cys) c.5615C>G (p.Ser1872Cys) c.6362C>G (p.Ser2121Cys)	dbSNP gnomAD v4
16	g.3728679G>T	CA394553544	CREBBP	c.6368C>A (p.Ser2123Tyr) c.6254C>A (p.Ser2085Tyr) c.6323C>A (p.Ser2108Tyr) c.5951C>A (p.Ser1984Tyr) c.6107C>A (p.Ser2036Tyr) c.6314C>A (p.Ser2105Tyr) c.5615C>A (p.Ser1872Tyr) c.6362C>A (p.Ser2121Tyr)	dbSNP gnomAD v4
16	g.3728680A>C	CA394553545	CREBBP	c.6367T>G (p.Ser2123Ala) c.6253T>G (p.Ser2085Ala) c.6322T>G (p.Ser2108Ala) c.5950T>G (p.Ser1984Ala) c.6106T>G (p.Ser2036Ala) c.6313T>G (p.Ser2105Ala) c.5614T>G (p.Ser1872Ala) c.6361T>G (p.Ser2121Ala)	dbSNP
16	g.3728680A>G	CA394553546	CREBBP	c.6367T>C (p.Ser2123Pro) c.6253T>C (p.Ser2085Pro) c.6322T>C (p.Ser2108Pro) c.5950T>C (p.Ser1984Pro) c.6106T>C (p.Ser2036Pro) c.6313T>C (p.Ser2105Pro) c.5614T>C (p.Ser1872Pro) c.6361T>C (p.Ser2121Pro)	dbSNP
16	g.3728680A>T	CA394553547	CREBBP	c.6367T>A (p.Ser2123Thr) c.6253T>A (p.Ser2085Thr) c.6322T>A (p.Ser2108Thr) c.5950T>A (p.Ser1984Thr) c.6106T>A (p.Ser2036Thr) c.6313T>A (p.Ser2105Thr) c.5614T>A (p.Ser1872Thr) c.6361T>A (p.Ser2121Thr)	dbSNP
16	g.3728680_3728698delinsACTGGAGGCCAGGCTGGGG	CA2202928809	CREBBP	c.6349_6367delinsCCCCAGCCTGGCCTCCAGT (p.Pro2117=) c.6235_6253delinsCCCCAGCCTGGCCTCCAGT (p.Pro2079=) c.6304_6322delinsCCCCAGCCTGGCCTCCAGT (p.Pro2102=) c.5932_5950delinsCCCCAGCCTGGCCTCCAGT (p.Pro1978=) c.6088_6106delinsCCCCAGCCTGGCCTCCAGT (p.Pro2030=) c.6295_6313delinsCCCCAGCCTGGCCTCCAGT (p.Pro2099=) c.5596_5614delinsCCCCAGCCTGGCCTCCAGT (p.Pro1866=) c.6343_6361delinsCCCCAGCCTGGCCTCCAGT (p.Pro2115=)
16	g.3728681C>A	CA7869132	CREBBP	c.6366G>T (p.Gln2122His) c.6252G>T (p.Gln2084His) c.6321G>T (p.Gln2107His) c.5949G>T (p.Gln1983His) c.6105G>T (p.Gln2035His) c.6312G>T (p.Gln2104His) c.5613G>T (p.Gln1871His) c.6360G>T (p.Gln2120His)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728681C=	CA2202928811	CREBBP	c.6366G= (p.Gln2122=) c.6252G= (p.Gln2084=) c.6321G= (p.Gln2107=) c.5949G= (p.Gln1983=) c.6105G= (p.Gln2035=) c.6312G= (p.Gln2104=) c.5613G= (p.Gln1871=) c.6360G= (p.Gln2120=)
16	g.3728681C>G	CA394553548	CREBBP	c.6366G>C (p.Gln2122His) c.6252G>C (p.Gln2084His) c.6321G>C (p.Gln2107His) c.5949G>C (p.Gln1983His) c.6105G>C (p.Gln2035His) c.6312G>C (p.Gln2104His) c.5613G>C (p.Gln1871His) c.6360G>C (p.Gln2120His)	dbSNP
16	g.3728681C>T	CA493393580	CREBBP	c.6366G>A (p.Gln2122=) c.6252G>A (p.Gln2084=) c.6321G>A (p.Gln2107=) c.5949G>A (p.Gln1983=) c.6105G>A (p.Gln2035=) c.6312G>A (p.Gln2104=) c.5613G>A (p.Gln1871=) c.6360G>A (p.Gln2120=)	dbSNP gnomAD v3 gnomAD v4
16	g.3728684_3728701del	CA2202928810	CREBBP	c.6349_6366del (p.Pro2117_Gln2122del) c.6235_6252del (p.Pro2079_Gln2084del) c.6304_6321del (p.Pro2102_Gln2107del) c.5932_5949del (p.Pro1978_Gln1983del) c.6088_6105del (p.Pro2030_Gln2035del) c.6295_6312del (p.Pro2099_Gln2104del) c.5596_5613del (p.Pro1866_Gln1871del) c.6343_6360del (p.Pro2115_Gln2120del)	dbSNP
16	g.3728682T>A	CA394553549	CREBBP	c.6365A>T (p.Gln2122Leu) c.6251A>T (p.Gln2084Leu) c.6320A>T (p.Gln2107Leu) c.5948A>T (p.Gln1983Leu) c.6104A>T (p.Gln2035Leu) c.6311A>T (p.Gln2104Leu) c.5612A>T (p.Gln1871Leu) c.6359A>T (p.Gln2120Leu)
16	g.3728682T>C	CA394553550	CREBBP	c.6365A>G (p.Gln2122Arg) c.6251A>G (p.Gln2084Arg) c.6320A>G (p.Gln2107Arg) c.5948A>G (p.Gln1983Arg) c.6104A>G (p.Gln2035Arg) c.6311A>G (p.Gln2104Arg) c.5612A>G (p.Gln1871Arg) c.6359A>G (p.Gln2120Arg)	gnomAD v4
16	g.3728682T>G	CA394553551	CREBBP	c.6365A>C (p.Gln2122Pro) c.6251A>C (p.Gln2084Pro) c.6320A>C (p.Gln2107Pro) c.5948A>C (p.Gln1983Pro) c.6104A>C (p.Gln2035Pro) c.6311A>C (p.Gln2104Pro) c.5612A>C (p.Gln1871Pro) c.6359A>C (p.Gln2120Pro)	ClinVar gnomAD v4
16	g.3728683G>A	CA394553552	CREBBP	c.6364C>T (p.Gln2122Ter) c.6250C>T (p.Gln2084Ter) c.6319C>T (p.Gln2107Ter) c.5947C>T (p.Gln1983Ter) c.6103C>T (p.Gln2035Ter) c.6310C>T (p.Gln2104Ter) c.5611C>T (p.Gln1871Ter) c.6358C>T (p.Gln2120Ter)	dbSNP COSMIC
16	g.3728683G>C	CA394553554	CREBBP	c.6364C>G (p.Gln2122Glu) c.6250C>G (p.Gln2084Glu) c.6319C>G (p.Gln2107Glu) c.5947C>G (p.Gln1983Glu) c.6103C>G (p.Gln2035Glu) c.6310C>G (p.Gln2104Glu) c.5611C>G (p.Gln1871Glu) c.6358C>G (p.Gln2120Glu)
16	g.3728683G>T	CA394553553	CREBBP	c.6364C>A (p.Gln2122Lys) c.6250C>A (p.Gln2084Lys) c.6319C>A (p.Gln2107Lys) c.5947C>A (p.Gln1983Lys) c.6103C>A (p.Gln2035Lys) c.6310C>A (p.Gln2104Lys) c.5611C>A (p.Gln1871Lys) c.6358C>A (p.Gln2120Lys)
16	g.3728684G>A	CA276971637	CREBBP	c.6363C>T (p.Leu2121=) c.6249C>T (p.Leu2083=) c.6318C>T (p.Leu2106=) c.5946C>T (p.Leu1982=) c.6102C>T (p.Leu2034=) c.6309C>T (p.Leu2103=) c.5610C>T (p.Leu1870=) c.6357C>T (p.Leu2119=)	dbSNP gnomAD v4
16	g.3728684G>C	CA493393584	CREBBP	c.6363C>G (p.Leu2121=) c.6249C>G (p.Leu2083=) c.6318C>G (p.Leu2106=) c.5946C>G (p.Leu1982=) c.6102C>G (p.Leu2034=) c.6309C>G (p.Leu2103=) c.5610C>G (p.Leu1870=) c.6357C>G (p.Leu2119=)	dbSNP gnomAD v4
16	g.3728684G=	CA2202928812	CREBBP	c.6363C= (p.Leu2121=) c.6249C= (p.Leu2083=) c.6318C= (p.Leu2106=) c.5946C= (p.Leu1982=) c.6102C= (p.Leu2034=) c.6309C= (p.Leu2103=) c.5610C= (p.Leu1870=) c.6357C= (p.Leu2119=)
16	g.3728684G>T	CA493393585	CREBBP	c.6363C>A (p.Leu2121=) c.6249C>A (p.Leu2083=) c.6318C>A (p.Leu2106=) c.5946C>A (p.Leu1982=) c.6102C>A (p.Leu2034=) c.6309C>A (p.Leu2103=) c.5610C>A (p.Leu1870=) c.6357C>A (p.Leu2119=)
16	g.3728685A=	CA2202928813	CREBBP	c.6362T= (p.Leu2121=) c.6248T= (p.Leu2083=) c.6317T= (p.Leu2106=) c.5945T= (p.Leu1982=) c.6101T= (p.Leu2034=) c.6308T= (p.Leu2103=) c.5609T= (p.Leu1870=) c.6356T= (p.Leu2119=)
16	g.3728685A>C	CA394553555	CREBBP	c.6362T>G (p.Leu2121Arg) c.6248T>G (p.Leu2083Arg) c.6317T>G (p.Leu2106Arg) c.5945T>G (p.Leu1982Arg) c.6101T>G (p.Leu2034Arg) c.6308T>G (p.Leu2103Arg) c.5609T>G (p.Leu1870Arg) c.6356T>G (p.Leu2119Arg)
16	g.3728685A>G	CA394553556	CREBBP	c.6362T>C (p.Leu2121Pro) c.6248T>C (p.Leu2083Pro) c.6317T>C (p.Leu2106Pro) c.5945T>C (p.Leu1982Pro) c.6101T>C (p.Leu2034Pro) c.6308T>C (p.Leu2103Pro) c.5609T>C (p.Leu1870Pro) c.6356T>C (p.Leu2119Pro)	dbSNP
16	g.3728685A>T	CA394553557	CREBBP	c.6362T>A (p.Leu2121His) c.6248T>A (p.Leu2083His) c.6317T>A (p.Leu2106His) c.5945T>A (p.Leu1982His) c.6101T>A (p.Leu2034His) c.6308T>A (p.Leu2103His) c.5609T>A (p.Leu1870His) c.6356T>A (p.Leu2119His)	ClinVar dbSNP
16	g.3728686G>A	CA7869133	CREBBP	c.6361C>T (p.Leu2121Phe) c.6247C>T (p.Leu2083Phe) c.6316C>T (p.Leu2106Phe) c.5944C>T (p.Leu1982Phe) c.6100C>T (p.Leu2034Phe) c.6307C>T (p.Leu2103Phe) c.5608C>T (p.Leu1870Phe) c.6355C>T (p.Leu2119Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728686G>C	CA394553558	CREBBP	c.6361C>G (p.Leu2121Val) c.6247C>G (p.Leu2083Val) c.6316C>G (p.Leu2106Val) c.5944C>G (p.Leu1982Val) c.6100C>G (p.Leu2034Val) c.6307C>G (p.Leu2103Val) c.5608C>G (p.Leu1870Val) c.6355C>G (p.Leu2119Val)
16	g.3728686G=	CA2202928814	CREBBP	c.6361C= (p.Leu2121=) c.6247C= (p.Leu2083=) c.6316C= (p.Leu2106=) c.5944C= (p.Leu1982=) c.6100C= (p.Leu2034=) c.6307C= (p.Leu2103=) c.5608C= (p.Leu1870=) c.6355C= (p.Leu2119=)
16	g.3728686G>T	CA394553559	CREBBP	c.6361C>A (p.Leu2121Ile) c.6247C>A (p.Leu2083Ile) c.6316C>A (p.Leu2106Ile) c.5944C>A (p.Leu1982Ile) c.6100C>A (p.Leu2034Ile) c.6307C>A (p.Leu2103Ile) c.5608C>A (p.Leu1870Ile) c.6355C>A (p.Leu2119Ile)	dbSNP
16	g.3728687G>A	CA493393587	CREBBP	c.6360C>T (p.Gly2120=) c.6246C>T (p.Gly2082=) c.6315C>T (p.Gly2105=) c.5943C>T (p.Gly1981=) c.6099C>T (p.Gly2033=) c.6306C>T (p.Gly2102=) c.5607C>T (p.Gly1869=) c.6354C>T (p.Gly2118=)
16	g.3728687G>C	CA493393588	CREBBP	c.6360C>G (p.Gly2120=) c.6246C>G (p.Gly2082=) c.6315C>G (p.Gly2105=) c.5943C>G (p.Gly1981=) c.6099C>G (p.Gly2033=) c.6306C>G (p.Gly2102=) c.5607C>G (p.Gly1869=) c.6354C>G (p.Gly2118=)
16	g.3728687G>T	CA493393589	CREBBP	c.6360C>A (p.Gly2120=) c.6246C>A (p.Gly2082=) c.6315C>A (p.Gly2105=) c.5943C>A (p.Gly1981=) c.6099C>A (p.Gly2033=) c.6306C>A (p.Gly2102=) c.5607C>A (p.Gly1869=) c.6354C>A (p.Gly2118=)
16	g.3728690_3728707dup	CA973904144	CREBBP	c.6343_6360dup (p.Gly2120_Leu2121insMetGlnProGlnProGly) c.6229_6246dup (p.Gly2082_Leu2083insMetGlnProGlnProGly) c.6298_6315dup (p.Gly2105_Leu2106insMetGlnProGlnProGly) c.5926_5943dup (p.Gly1981_Leu1982insMetGlnProGlnProGly) c.6082_6099dup (p.Gly2033_Leu2034insMetGlnProGlnProGly) c.6289_6306dup (p.Gly2102_Leu2103insMetGlnProGlnProGly) c.5590_5607dup (p.Gly1869_Leu1870insMetGlnProGlnProGly) c.6337_6354dup (p.Gly2118_Leu2119insMetGlnProGlnProGly)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3728688C>A	CA394553560	CREBBP	c.6359G>T (p.Gly2120Val) c.6245G>T (p.Gly2082Val) c.6314G>T (p.Gly2105Val) c.5942G>T (p.Gly1981Val) c.6098G>T (p.Gly2033Val) c.6305G>T (p.Gly2102Val) c.5606G>T (p.Gly1869Val) c.6353G>T (p.Gly2118Val)
16	g.3728688C>G	CA394553561	CREBBP	c.6359G>C (p.Gly2120Ala) c.6245G>C (p.Gly2082Ala) c.6314G>C (p.Gly2105Ala) c.5942G>C (p.Gly1981Ala) c.6098G>C (p.Gly2033Ala) c.6305G>C (p.Gly2102Ala) c.5606G>C (p.Gly1869Ala) c.6353G>C (p.Gly2118Ala)	dbSNP
16	g.3728688C>T	CA394553562	CREBBP	c.6359G>A (p.Gly2120Asp) c.6245G>A (p.Gly2082Asp) c.6314G>A (p.Gly2105Asp) c.5942G>A (p.Gly1981Asp) c.6098G>A (p.Gly2033Asp) c.6305G>A (p.Gly2102Asp) c.5606G>A (p.Gly1869Asp) c.6353G>A (p.Gly2118Asp)	dbSNP
16	g.3728689C>A	CA394553564	CREBBP	c.6358G>T (p.Gly2120Cys) c.6244G>T (p.Gly2082Cys) c.6313G>T (p.Gly2105Cys) c.5941G>T (p.Gly1981Cys) c.6097G>T (p.Gly2033Cys) c.6304G>T (p.Gly2102Cys) c.5605G>T (p.Gly1869Cys) c.6352G>T (p.Gly2118Cys)
16	g.3728689C>G	CA394553565	CREBBP	c.6358G>C (p.Gly2120Arg) c.6244G>C (p.Gly2082Arg) c.6313G>C (p.Gly2105Arg) c.5941G>C (p.Gly1981Arg) c.6097G>C (p.Gly2033Arg) c.6304G>C (p.Gly2102Arg) c.5605G>C (p.Gly1869Arg) c.6352G>C (p.Gly2118Arg)	dbSNP
16	g.3728689C>T	CA394553563	CREBBP	c.6358G>A (p.Gly2120Ser) c.6244G>A (p.Gly2082Ser) c.6313G>A (p.Gly2105Ser) c.5941G>A (p.Gly1981Ser) c.6097G>A (p.Gly2033Ser) c.6304G>A (p.Gly2102Ser) c.5605G>A (p.Gly1869Ser) c.6352G>A (p.Gly2118Ser)	dbSNP
16	g.3728689_3728690insGGGCTGGGACTGG	CA2631402777	CREBBP	c.6357_6358insCCAGTCCCAGCCC (p.Gly2120ProfsTer?) c.6243_6244insCCAGTCCCAGCCC (p.Gly2082ProfsTer?) c.6312_6313insCCAGTCCCAGCCC (p.Gly2105ProfsTer?) c.5940_5941insCCAGTCCCAGCCC (p.Gly1981ProfsTer?) c.6096_6097insCCAGTCCCAGCCC (p.Gly2033ProfsTer?) c.6303_6304insCCAGTCCCAGCCC (p.Gly2102ProfsTer?) c.5604_5605insCCAGTCCCAGCCC (p.Gly1869ProfsTer?) c.6351_6352insCCAGTCCCAGCCC (p.Gly2118ProfsTer?)	gnomAD v4
16	g.3728690A=	CA2202928815	CREBBP	c.6357T= (p.Pro2119=) c.6243T= (p.Pro2081=) c.6312T= (p.Pro2104=) c.5940T= (p.Pro1980=) c.6096T= (p.Pro2032=) c.6303T= (p.Pro2101=) c.5604T= (p.Pro1868=) c.6351T= (p.Pro2117=)
16	g.3728690A>C	CA493393597	CREBBP	c.6357T>G (p.Pro2119=) c.6243T>G (p.Pro2081=) c.6312T>G (p.Pro2104=) c.5940T>G (p.Pro1980=) c.6096T>G (p.Pro2032=) c.6303T>G (p.Pro2101=) c.5604T>G (p.Pro1868=) c.6351T>G (p.Pro2117=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728690A>G	CA493393595	CREBBP	c.6357T>C (p.Pro2119=) c.6243T>C (p.Pro2081=) c.6312T>C (p.Pro2104=) c.5940T>C (p.Pro1980=) c.6096T>C (p.Pro2032=) c.6303T>C (p.Pro2101=) c.5604T>C (p.Pro1868=) c.6351T>C (p.Pro2117=)	gnomAD v4
16	g.3728690A>T	CA493393596	CREBBP	c.6357T>A (p.Pro2119=) c.6243T>A (p.Pro2081=) c.6312T>A (p.Pro2104=) c.5940T>A (p.Pro1980=) c.6096T>A (p.Pro2032=) c.6303T>A (p.Pro2101=) c.5604T>A (p.Pro1868=) c.6351T>A (p.Pro2117=)
16	g.3728691G>A	CA394553566	CREBBP	c.6356C>T (p.Pro2119Leu) c.6242C>T (p.Pro2081Leu) c.6311C>T (p.Pro2104Leu) c.5939C>T (p.Pro1980Leu) c.6095C>T (p.Pro2032Leu) c.6302C>T (p.Pro2101Leu) c.5603C>T (p.Pro1868Leu) c.6350C>T (p.Pro2117Leu)	dbSNP
16	g.3728691G>C	CA394553567	CREBBP	c.6356C>G (p.Pro2119Arg) c.6242C>G (p.Pro2081Arg) c.6311C>G (p.Pro2104Arg) c.5939C>G (p.Pro1980Arg) c.6095C>G (p.Pro2032Arg) c.6302C>G (p.Pro2101Arg) c.5603C>G (p.Pro1868Arg) c.6350C>G (p.Pro2117Arg)	dbSNP
16	g.3728691G>T	CA394553568	CREBBP	c.6356C>A (p.Pro2119His) c.6242C>A (p.Pro2081His) c.6311C>A (p.Pro2104His) c.5939C>A (p.Pro1980His) c.6095C>A (p.Pro2032His) c.6302C>A (p.Pro2101His) c.5603C>A (p.Pro1868His) c.6350C>A (p.Pro2117His)
16	g.3728696_3728713dup	CA620714437	CREBBP	c.6339_6356dup (p.Pro2119_Gly2120insGlyMetGlnProGlnPro) c.6225_6242dup (p.Pro2081_Gly2082insGlyMetGlnProGlnPro) c.6294_6311dup (p.Pro2104_Gly2105insGlyMetGlnProGlnPro) c.5922_5939dup (p.Pro1980_Gly1981insGlyMetGlnProGlnPro) c.6078_6095dup (p.Pro2032_Gly2033insGlyMetGlnProGlnPro) c.6285_6302dup (p.Pro2101_Gly2102insGlyMetGlnProGlnPro) c.5586_5603dup (p.Pro1868_Gly1869insGlyMetGlnProGlnPro) c.6333_6350dup (p.Pro2117_Gly2118insGlyMetGlnProGlnPro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728692G>A	CA394553569	CREBBP	c.6355C>T (p.Pro2119Ser) c.6241C>T (p.Pro2081Ser) c.6310C>T (p.Pro2104Ser) c.5938C>T (p.Pro1980Ser) c.6094C>T (p.Pro2032Ser) c.6301C>T (p.Pro2101Ser) c.5602C>T (p.Pro1868Ser) c.6349C>T (p.Pro2117Ser)	dbSNP
16	g.3728692G>C	CA394553570	CREBBP	c.6355C>G (p.Pro2119Ala) c.6241C>G (p.Pro2081Ala) c.6310C>G (p.Pro2104Ala) c.5938C>G (p.Pro1980Ala) c.6094C>G (p.Pro2032Ala) c.6301C>G (p.Pro2101Ala) c.5602C>G (p.Pro1868Ala) c.6349C>G (p.Pro2117Ala)	dbSNP
16	g.3728692G>T	CA394553571	CREBBP	c.6355C>A (p.Pro2119Thr) c.6241C>A (p.Pro2081Thr) c.6310C>A (p.Pro2104Thr) c.5938C>A (p.Pro1980Thr) c.6094C>A (p.Pro2032Thr) c.6301C>A (p.Pro2101Thr) c.5602C>A (p.Pro1868Thr) c.6349C>A (p.Pro2117Thr)	dbSNP
16	g.3728693C>A	CA394553572	CREBBP	c.6354G>T (p.Gln2118His) c.6240G>T (p.Gln2080His) c.6309G>T (p.Gln2103His) c.5937G>T (p.Gln1979His) c.6093G>T (p.Gln2031His) c.6300G>T (p.Gln2100His) c.5601G>T (p.Gln1867His) c.6348G>T (p.Gln2116His)	dbSNP
16	g.3728693C=	CA2202928816	CREBBP	c.6354G= (p.Gln2118=) c.6240G= (p.Gln2080=) c.6309G= (p.Gln2103=) c.5937G= (p.Gln1979=) c.6093G= (p.Gln2031=) c.6300G= (p.Gln2100=) c.5601G= (p.Gln1867=) c.6348G= (p.Gln2116=)
16	g.3728693C>G	CA394553573	CREBBP	c.6354G>C (p.Gln2118His) c.6240G>C (p.Gln2080His) c.6309G>C (p.Gln2103His) c.5937G>C (p.Gln1979His) c.6093G>C (p.Gln2031His) c.6300G>C (p.Gln2100His) c.5601G>C (p.Gln1867His) c.6348G>C (p.Gln2116His)	dbSNP
16	g.3728693C>T	CA7869134	CREBBP	c.6354G>A (p.Gln2118=) c.6240G>A (p.Gln2080=) c.6309G>A (p.Gln2103=) c.5937G>A (p.Gln1979=) c.6093G>A (p.Gln2031=) c.6300G>A (p.Gln2100=) c.5601G>A (p.Gln1867=) c.6348G>A (p.Gln2116=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728693_3728694insCAGTC	CA2631402785	CREBBP	c.6354_6355insACTGG (p.Pro2119ThrfsTer26) c.6240_6241insACTGG (p.Pro2081ThrfsTer26) c.6309_6310insACTGG (p.Pro2104ThrfsTer26) c.5937_5938insACTGG (p.Pro1980ThrfsTer26) c.6093_6094insACTGG (p.Pro2032ThrfsTer26) c.6300_6301insACTGG (p.Pro2101ThrfsTer26) c.5601_5602insACTGG (p.Pro1868ThrfsTer26) c.6348_6349insACTGG (p.Pro2117ThrfsTer26)	gnomAD v4
16	g.3728694T>A	CA394553574	CREBBP	c.6353A>T (p.Gln2118Leu) c.6239A>T (p.Gln2080Leu) c.6308A>T (p.Gln2103Leu) c.5936A>T (p.Gln1979Leu) c.6092A>T (p.Gln2031Leu) c.6299A>T (p.Gln2100Leu) c.5600A>T (p.Gln1867Leu) c.6347A>T (p.Gln2116Leu)	gnomAD v4
16	g.3728694T>C	CA394553575	CREBBP	c.6353A>G (p.Gln2118Arg) c.6239A>G (p.Gln2080Arg) c.6308A>G (p.Gln2103Arg) c.5936A>G (p.Gln1979Arg) c.6092A>G (p.Gln2031Arg) c.6299A>G (p.Gln2100Arg) c.5600A>G (p.Gln1867Arg) c.6347A>G (p.Gln2116Arg)
16	g.3728694T>G	CA394553576	CREBBP	c.6353A>C (p.Gln2118Pro) c.6239A>C (p.Gln2080Pro) c.6308A>C (p.Gln2103Pro) c.5936A>C (p.Gln1979Pro) c.6092A>C (p.Gln2031Pro) c.6299A>C (p.Gln2100Pro) c.5600A>C (p.Gln1867Pro) c.6347A>C (p.Gln2116Pro)
16	g.3728695G>A	CA394553578	CREBBP	c.6352C>T (p.Gln2118Ter) c.6238C>T (p.Gln2080Ter) c.6307C>T (p.Gln2103Ter) c.5935C>T (p.Gln1979Ter) c.6091C>T (p.Gln2031Ter) c.6298C>T (p.Gln2100Ter) c.5599C>T (p.Gln1867Ter) c.6346C>T (p.Gln2116Ter)
16	g.3728695G>C	CA394553579	CREBBP	c.6352C>G (p.Gln2118Glu) c.6238C>G (p.Gln2080Glu) c.6307C>G (p.Gln2103Glu) c.5935C>G (p.Gln1979Glu) c.6091C>G (p.Gln2031Glu) c.6298C>G (p.Gln2100Glu) c.5599C>G (p.Gln1867Glu) c.6346C>G (p.Gln2116Glu)
16	g.3728695G>T	CA394553577	CREBBP	c.6352C>A (p.Gln2118Lys) c.6238C>A (p.Gln2080Lys) c.6307C>A (p.Gln2103Lys) c.5935C>A (p.Gln1979Lys) c.6091C>A (p.Gln2031Lys) c.6298C>A (p.Gln2100Lys) c.5599C>A (p.Gln1867Lys) c.6346C>A (p.Gln2116Lys)
16	g.3728697_3728698dup	CA2695222736	CREBBP	c.6351_6352dup (p.Gln2118ProfsTer26) c.6237_6238dup (p.Gln2080ProfsTer26) c.6306_6307dup (p.Gln2103ProfsTer26) c.5934_5935dup (p.Gln1979ProfsTer26) c.6090_6091dup (p.Gln2031ProfsTer26) c.6297_6298dup (p.Gln2100ProfsTer26) c.5598_5599dup (p.Gln1867ProfsTer26) c.6345_6346dup (p.Gln2116ProfsTer26)
16	g.3728696G>A	CA7869135	CREBBP	c.6351C>T (p.Pro2117=) c.6237C>T (p.Pro2079=) c.6306C>T (p.Pro2102=) c.5934C>T (p.Pro1978=) c.6090C>T (p.Pro2030=) c.6297C>T (p.Pro2099=) c.5598C>T (p.Pro1866=) c.6345C>T (p.Pro2115=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728696G>C	CA493393600	CREBBP	c.6351C>G (p.Pro2117=) c.6237C>G (p.Pro2079=) c.6306C>G (p.Pro2102=) c.5934C>G (p.Pro1978=) c.6090C>G (p.Pro2030=) c.6297C>G (p.Pro2099=) c.5598C>G (p.Pro1866=) c.6345C>G (p.Pro2115=)	dbSNP gnomAD v2 gnomAD v4
16	g.3728696G=	CA2202928817	CREBBP	c.6351C= (p.Pro2117=) c.6237C= (p.Pro2079=) c.6306C= (p.Pro2102=) c.5934C= (p.Pro1978=) c.6090C= (p.Pro2030=) c.6297C= (p.Pro2099=) c.5598C= (p.Pro1866=) c.6345C= (p.Pro2115=)
16	g.3728696G>T	CA493393602	CREBBP	c.6351C>A (p.Pro2117=) c.6237C>A (p.Pro2079=) c.6306C>A (p.Pro2102=) c.5934C>A (p.Pro1978=) c.6090C>A (p.Pro2030=) c.6297C>A (p.Pro2099=) c.5598C>A (p.Pro1866=) c.6345C>A (p.Pro2115=)
16	g.3728697G>A	CA394553580	CREBBP	c.6350C>T (p.Pro2117Leu) c.6236C>T (p.Pro2079Leu) c.6305C>T (p.Pro2102Leu) c.5933C>T (p.Pro1978Leu) c.6089C>T (p.Pro2030Leu) c.6296C>T (p.Pro2099Leu) c.5597C>T (p.Pro1866Leu) c.6344C>T (p.Pro2115Leu)
16	g.3728697G>C	CA394553581	CREBBP	c.6350C>G (p.Pro2117Arg) c.6236C>G (p.Pro2079Arg) c.6305C>G (p.Pro2102Arg) c.5933C>G (p.Pro1978Arg) c.6089C>G (p.Pro2030Arg) c.6296C>G (p.Pro2099Arg) c.5597C>G (p.Pro1866Arg) c.6344C>G (p.Pro2115Arg)	dbSNP gnomAD v4
16	g.3728697G>T	CA394553582	CREBBP	c.6350C>A (p.Pro2117His) c.6236C>A (p.Pro2079His) c.6305C>A (p.Pro2102His) c.5933C>A (p.Pro1978His) c.6089C>A (p.Pro2030His) c.6296C>A (p.Pro2099His) c.5597C>A (p.Pro1866His) c.6344C>A (p.Pro2115His)	gnomAD v4
16	g.3728698G>A	CA394553583	CREBBP	c.6349C>T (p.Pro2117Ser) c.6235C>T (p.Pro2079Ser) c.6304C>T (p.Pro2102Ser) c.5932C>T (p.Pro1978Ser) c.6088C>T (p.Pro2030Ser) c.6295C>T (p.Pro2099Ser) c.5596C>T (p.Pro1866Ser) c.6343C>T (p.Pro2115Ser)	dbSNP gnomAD v4
16	g.3728698G>C	CA394553584	CREBBP	c.6349C>G (p.Pro2117Ala) c.6235C>G (p.Pro2079Ala) c.6304C>G (p.Pro2102Ala) c.5932C>G (p.Pro1978Ala) c.6088C>G (p.Pro2030Ala) c.6295C>G (p.Pro2099Ala) c.5596C>G (p.Pro1866Ala) c.6343C>G (p.Pro2115Ala)	dbSNP
16	g.3728698G=	CA2202928818	CREBBP	c.6349C= (p.Pro2117=) c.6235C= (p.Pro2079=) c.6304C= (p.Pro2102=) c.5932C= (p.Pro1978=) c.6088C= (p.Pro2030=) c.6295C= (p.Pro2099=) c.5596C= (p.Pro1866=) c.6343C= (p.Pro2115=)
16	g.3728698G>T	CA394553585	CREBBP	c.6349C>A (p.Pro2117Thr) c.6235C>A (p.Pro2079Thr) c.6304C>A (p.Pro2102Thr) c.5932C>A (p.Pro1978Thr) c.6088C>A (p.Pro2030Thr) c.6295C>A (p.Pro2099Thr) c.5596C>A (p.Pro1866Thr) c.6343C>A (p.Pro2115Thr)
16	g.3728699C>A	CA394553586	CREBBP	c.6348G>T (p.Gln2116His) c.6234G>T (p.Gln2078His) c.6303G>T (p.Gln2101His) c.5931G>T (p.Gln1977His) c.6087G>T (p.Gln2029His) c.6294G>T (p.Gln2098His) c.5595G>T (p.Gln1865His) c.6342G>T (p.Gln2114His)	dbSNP
16	g.3728699C>G	CA394553587	CREBBP	c.6348G>C (p.Gln2116His) c.6234G>C (p.Gln2078His) c.6303G>C (p.Gln2101His) c.5931G>C (p.Gln1977His) c.6087G>C (p.Gln2029His) c.6294G>C (p.Gln2098His) c.5595G>C (p.Gln1865His) c.6342G>C (p.Gln2114His)	dbSNP
16	g.3728699C>T	CA493393607	CREBBP	c.6348G>A (p.Gln2116=) c.6234G>A (p.Gln2078=) c.6303G>A (p.Gln2101=) c.5931G>A (p.Gln1977=) c.6087G>A (p.Gln2029=) c.6294G>A (p.Gln2098=) c.5595G>A (p.Gln1865=) c.6342G>A (p.Gln2114=)	dbSNP gnomAD v4
16	g.3728700T>A	CA394553588	CREBBP	c.6347A>T (p.Gln2116Leu) c.6233A>T (p.Gln2078Leu) c.6302A>T (p.Gln2101Leu) c.5930A>T (p.Gln1977Leu) c.6086A>T (p.Gln2029Leu) c.6293A>T (p.Gln2098Leu) c.5594A>T (p.Gln1865Leu) c.6341A>T (p.Gln2114Leu)	dbSNP
16	g.3728700T>C	CA394553589	CREBBP	c.6347A>G (p.Gln2116Arg) c.6233A>G (p.Gln2078Arg) c.6302A>G (p.Gln2101Arg) c.5930A>G (p.Gln1977Arg) c.6086A>G (p.Gln2029Arg) c.6293A>G (p.Gln2098Arg) c.5594A>G (p.Gln1865Arg) c.6341A>G (p.Gln2114Arg)	dbSNP
16	g.3728700T>G	CA394553590	CREBBP	c.6347A>C (p.Gln2116Pro) c.6233A>C (p.Gln2078Pro) c.6302A>C (p.Gln2101Pro) c.5930A>C (p.Gln1977Pro) c.6086A>C (p.Gln2029Pro) c.6293A>C (p.Gln2098Pro) c.5594A>C (p.Gln1865Pro) c.6341A>C (p.Gln2114Pro)	dbSNP
16	g.3728700T=	CA2202928819	CREBBP	c.6347A= (p.Gln2116=) c.6233A= (p.Gln2078=) c.6302A= (p.Gln2101=) c.5930A= (p.Gln1977=) c.6086A= (p.Gln2029=) c.6293A= (p.Gln2098=) c.5594A= (p.Gln1865=) c.6341A= (p.Gln2114=)
16	g.3728701G>A	CA394553591	CREBBP	c.6346C>T (p.Gln2116Ter) c.6232C>T (p.Gln2078Ter) c.6301C>T (p.Gln2101Ter) c.5929C>T (p.Gln1977Ter) c.6085C>T (p.Gln2029Ter) c.6292C>T (p.Gln2098Ter) c.5593C>T (p.Gln1865Ter) c.6340C>T (p.Gln2114Ter)	dbSNP
16	g.3728701G>C	CA394553592	CREBBP	c.6346C>G (p.Gln2116Glu) c.6232C>G (p.Gln2078Glu) c.6301C>G (p.Gln2101Glu) c.5929C>G (p.Gln1977Glu) c.6085C>G (p.Gln2029Glu) c.6292C>G (p.Gln2098Glu) c.5593C>G (p.Gln1865Glu) c.6340C>G (p.Gln2114Glu)	dbSNP
16	g.3728701G>T	CA394553593	CREBBP	c.6346C>A (p.Gln2116Lys) c.6232C>A (p.Gln2078Lys) c.6301C>A (p.Gln2101Lys) c.5929C>A (p.Gln1977Lys) c.6085C>A (p.Gln2029Lys) c.6292C>A (p.Gln2098Lys) c.5593C>A (p.Gln1865Lys) c.6340C>A (p.Gln2114Lys)	dbSNP
16	g.3728702C>A	CA394553595	CREBBP	c.6345G>T (p.Met2115Ile) c.6231G>T (p.Met2077Ile) c.6300G>T (p.Met2100Ile) c.5928G>T (p.Met1976Ile) c.6084G>T (p.Met2028Ile) c.6291G>T (p.Met2097Ile) c.5592G>T (p.Met1864Ile) c.6339G>T (p.Met2113Ile)
16	g.3728702C>G	CA394553596	CREBBP	c.6345G>C (p.Met2115Ile) c.6231G>C (p.Met2077Ile) c.6300G>C (p.Met2100Ile) c.5928G>C (p.Met1976Ile) c.6084G>C (p.Met2028Ile) c.6291G>C (p.Met2097Ile) c.5592G>C (p.Met1864Ile) c.6339G>C (p.Met2113Ile)	dbSNP
16	g.3728702C>T	CA394553594	CREBBP	c.6345G>A (p.Met2115Ile) c.6231G>A (p.Met2077Ile) c.6300G>A (p.Met2100Ile) c.5928G>A (p.Met1976Ile) c.6084G>A (p.Met2028Ile) c.6291G>A (p.Met2097Ile) c.5592G>A (p.Met1864Ile) c.6339G>A (p.Met2113Ile)	dbSNP gnomAD v4
16	g.3728703A>C	CA394553598	CREBBP	c.6344T>G (p.Met2115Arg) c.6230T>G (p.Met2077Arg) c.6299T>G (p.Met2100Arg) c.5927T>G (p.Met1976Arg) c.6083T>G (p.Met2028Arg) c.6290T>G (p.Met2097Arg) c.5591T>G (p.Met1864Arg) c.6338T>G (p.Met2113Arg)
16	g.3728703A>G	CA394553597	CREBBP	c.6344T>C (p.Met2115Thr) c.6230T>C (p.Met2077Thr) c.6299T>C (p.Met2100Thr) c.5927T>C (p.Met1976Thr) c.6083T>C (p.Met2028Thr) c.6290T>C (p.Met2097Thr) c.5591T>C (p.Met1864Thr) c.6338T>C (p.Met2113Thr)	dbSNP gnomAD v4
16	g.3728703A>T	CA394553599	CREBBP	c.6344T>A (p.Met2115Lys) c.6230T>A (p.Met2077Lys) c.6299T>A (p.Met2100Lys) c.5927T>A (p.Met1976Lys) c.6083T>A (p.Met2028Lys) c.6290T>A (p.Met2097Lys) c.5591T>A (p.Met1864Lys) c.6338T>A (p.Met2113Lys)	dbSNP
16	g.3728704T>A	CA394553600	CREBBP	c.6343A>T (p.Met2115Leu) c.6229A>T (p.Met2077Leu) c.6298A>T (p.Met2100Leu) c.5926A>T (p.Met1976Leu) c.6082A>T (p.Met2028Leu) c.6289A>T (p.Met2097Leu) c.5590A>T (p.Met1864Leu) c.6337A>T (p.Met2113Leu)	dbSNP
16	g.3728704T>C	CA7869136	CREBBP	c.6343A>G (p.Met2115Val) c.6229A>G (p.Met2077Val) c.6298A>G (p.Met2100Val) c.5926A>G (p.Met1976Val) c.6082A>G (p.Met2028Val) c.6289A>G (p.Met2097Val) c.5590A>G (p.Met1864Val) c.6337A>G (p.Met2113Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728704T>G	CA394553601	CREBBP	c.6343A>C (p.Met2115Leu) c.6229A>C (p.Met2077Leu) c.6298A>C (p.Met2100Leu) c.5926A>C (p.Met1976Leu) c.6082A>C (p.Met2028Leu) c.6289A>C (p.Met2097Leu) c.5590A>C (p.Met1864Leu) c.6337A>C (p.Met2113Leu)	dbSNP
16	g.3728704T=	CA2202928820	CREBBP	c.6343A= (p.Met2115=) c.6229A= (p.Met2077=) c.6298A= (p.Met2100=) c.5926A= (p.Met1976=) c.6082A= (p.Met2028=) c.6289A= (p.Met2097=) c.5590A= (p.Met1864=) c.6337A= (p.Met2113=)
16	g.3728705G>A	CA493393612	CREBBP	c.6342C>T (p.Gly2114=) c.6228C>T (p.Gly2076=) c.6297C>T (p.Gly2099=) c.5925C>T (p.Gly1975=) c.6081C>T (p.Gly2027=) c.6288C>T (p.Gly2096=) c.5589C>T (p.Gly1863=) c.6336C>T (p.Gly2112=)	dbSNP gnomAD v4 COSMIC
16	g.3728705G>C	CA493393613	CREBBP	c.6342C>G (p.Gly2114=) c.6228C>G (p.Gly2076=) c.6297C>G (p.Gly2099=) c.5925C>G (p.Gly1975=) c.6081C>G (p.Gly2027=) c.6288C>G (p.Gly2096=) c.5589C>G (p.Gly1863=) c.6336C>G (p.Gly2112=)	dbSNP
16	g.3728705G>T	CA493393614	CREBBP	c.6342C>A (p.Gly2114=) c.6228C>A (p.Gly2076=) c.6297C>A (p.Gly2099=) c.5925C>A (p.Gly1975=) c.6081C>A (p.Gly2027=) c.6288C>A (p.Gly2096=) c.5589C>A (p.Gly1863=) c.6336C>A (p.Gly2112=)
16	g.3728706C>A	CA394553602	CREBBP	c.6341G>T (p.Gly2114Val) c.6227G>T (p.Gly2076Val) c.6296G>T (p.Gly2099Val) c.5924G>T (p.Gly1975Val) c.6080G>T (p.Gly2027Val) c.6287G>T (p.Gly2096Val) c.5588G>T (p.Gly1863Val) c.6335G>T (p.Gly2112Val)	dbSNP
16	g.3728706C=	CA2202928821	CREBBP	c.6341G= (p.Gly2114=) c.6227G= (p.Gly2076=) c.6296G= (p.Gly2099=) c.5924G= (p.Gly1975=) c.6080G= (p.Gly2027=) c.6287G= (p.Gly2096=) c.5588G= (p.Gly1863=) c.6335G= (p.Gly2112=)
16	g.3728706C>G	CA394553603	CREBBP	c.6341G>C (p.Gly2114Ala) c.6227G>C (p.Gly2076Ala) c.6296G>C (p.Gly2099Ala) c.5924G>C (p.Gly1975Ala) c.6080G>C (p.Gly2027Ala) c.6287G>C (p.Gly2096Ala) c.5588G>C (p.Gly1863Ala) c.6335G>C (p.Gly2112Ala)	dbSNP
16	g.3728706C>T	CA7869137	CREBBP	c.6341G>A (p.Gly2114Asp) c.6227G>A (p.Gly2076Asp) c.6296G>A (p.Gly2099Asp) c.5924G>A (p.Gly1975Asp) c.6080G>A (p.Gly2027Asp) c.6287G>A (p.Gly2096Asp) c.5588G>A (p.Gly1863Asp) c.6335G>A (p.Gly2112Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728707C>A	CA394553604	CREBBP	c.6340G>T (p.Gly2114Cys) c.6226G>T (p.Gly2076Cys) c.6295G>T (p.Gly2099Cys) c.5923G>T (p.Gly1975Cys) c.6079G>T (p.Gly2027Cys) c.6286G>T (p.Gly2096Cys) c.5587G>T (p.Gly1863Cys) c.6334G>T (p.Gly2112Cys)	dbSNP gnomAD v2 gnomAD v4
16	g.3728707C=	CA2202928822	CREBBP	c.6340G= (p.Gly2114=) c.6226G= (p.Gly2076=) c.6295G= (p.Gly2099=) c.5923G= (p.Gly1975=) c.6079G= (p.Gly2027=) c.6286G= (p.Gly2096=) c.5587G= (p.Gly1863=) c.6334G= (p.Gly2112=)
16	g.3728707C>G	CA276971654	CREBBP	c.6340G>C (p.Gly2114Arg) c.6226G>C (p.Gly2076Arg) c.6295G>C (p.Gly2099Arg) c.5923G>C (p.Gly1975Arg) c.6079G>C (p.Gly2027Arg) c.6286G>C (p.Gly2096Arg) c.5587G>C (p.Gly1863Arg) c.6334G>C (p.Gly2112Arg)	dbSNP
16	g.3728707C>T	CA7869138	CREBBP	c.6340G>A (p.Gly2114Ser) c.6226G>A (p.Gly2076Ser) c.6295G>A (p.Gly2099Ser) c.5923G>A (p.Gly1975Ser) c.6079G>A (p.Gly2027Ser) c.6286G>A (p.Gly2096Ser) c.5587G>A (p.Gly1863Ser) c.6334G>A (p.Gly2112Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728708G>A	CA7869139	CREBBP	c.6339C>T (p.Pro2113=) c.6225C>T (p.Pro2075=) c.6294C>T (p.Pro2098=) c.5922C>T (p.Pro1974=) c.6078C>T (p.Pro2026=) c.6285C>T (p.Pro2095=) c.5586C>T (p.Pro1862=) c.6333C>T (p.Pro2111=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728708G>C	CA493393618	CREBBP	c.6339C>G (p.Pro2113=) c.6225C>G (p.Pro2075=) c.6294C>G (p.Pro2098=) c.5922C>G (p.Pro1974=) c.6078C>G (p.Pro2026=) c.6285C>G (p.Pro2095=) c.5586C>G (p.Pro1862=) c.6333C>G (p.Pro2111=)	gnomAD v4
16	g.3728708G=	CA2202928823	CREBBP	c.6339C= (p.Pro2113=) c.6225C= (p.Pro2075=) c.6294C= (p.Pro2098=) c.5922C= (p.Pro1974=) c.6078C= (p.Pro2026=) c.6285C= (p.Pro2095=) c.5586C= (p.Pro1862=) c.6333C= (p.Pro2111=)
16	g.3728708G>T	CA493393619	CREBBP	c.6339C>A (p.Pro2113=) c.6225C>A (p.Pro2075=) c.6294C>A (p.Pro2098=) c.5922C>A (p.Pro1974=) c.6078C>A (p.Pro2026=) c.6285C>A (p.Pro2095=) c.5586C>A (p.Pro1862=) c.6333C>A (p.Pro2111=)
16	g.3728709G>A	CA394553605	CREBBP	c.6338C>T (p.Pro2113Leu) c.6224C>T (p.Pro2075Leu) c.6293C>T (p.Pro2098Leu) c.5921C>T (p.Pro1974Leu) c.6077C>T (p.Pro2026Leu) c.6284C>T (p.Pro2095Leu) c.5585C>T (p.Pro1862Leu) c.6332C>T (p.Pro2111Leu)	dbSNP
16	g.3728709G>C	CA394553606	CREBBP	c.6338C>G (p.Pro2113Arg) c.6224C>G (p.Pro2075Arg) c.6293C>G (p.Pro2098Arg) c.5921C>G (p.Pro1974Arg) c.6077C>G (p.Pro2026Arg) c.6284C>G (p.Pro2095Arg) c.5585C>G (p.Pro1862Arg) c.6332C>G (p.Pro2111Arg)	dbSNP
16	g.3728709G>T	CA394553607	CREBBP	c.6338C>A (p.Pro2113His) c.6224C>A (p.Pro2075His) c.6293C>A (p.Pro2098His) c.5921C>A (p.Pro1974His) c.6077C>A (p.Pro2026His) c.6284C>A (p.Pro2095His) c.5585C>A (p.Pro1862His) c.6332C>A (p.Pro2111His)	dbSNP
16	g.3728710G>A	CA394553609	CREBBP	c.6337C>T (p.Pro2113Ser) c.6223C>T (p.Pro2075Ser) c.6292C>T (p.Pro2098Ser) c.5920C>T (p.Pro1974Ser) c.6076C>T (p.Pro2026Ser) c.6283C>T (p.Pro2095Ser) c.5584C>T (p.Pro1862Ser) c.6331C>T (p.Pro2111Ser)	dbSNP
16	g.3728710G>C	CA394553608	CREBBP	c.6337C>G (p.Pro2113Ala) c.6223C>G (p.Pro2075Ala) c.6292C>G (p.Pro2098Ala) c.5920C>G (p.Pro1974Ala) c.6076C>G (p.Pro2026Ala) c.6283C>G (p.Pro2095Ala) c.5584C>G (p.Pro1862Ala) c.6331C>G (p.Pro2111Ala)	dbSNP
16	g.3728710G=	CA2202928824	CREBBP	c.6337C= (p.Pro2113=) c.6223C= (p.Pro2075=) c.6292C= (p.Pro2098=) c.5920C= (p.Pro1974=) c.6076C= (p.Pro2026=) c.6283C= (p.Pro2095=) c.5584C= (p.Pro1862=) c.6331C= (p.Pro2111=)
16	g.3728710G>T	CA16620195	CREBBP	c.6337C>A (p.Pro2113Thr) c.6223C>A (p.Pro2075Thr) c.6292C>A (p.Pro2098Thr) c.5920C>A (p.Pro1974Thr) c.6076C>A (p.Pro2026Thr) c.6283C>A (p.Pro2095Thr) c.5584C>A (p.Pro1862Thr) c.6331C>A (p.Pro2111Thr)	ClinVar dbSNP
16	g.3728711C>A	CA394553610	CREBBP	c.6336G>T (p.Gln2112His) c.6222G>T (p.Gln2074His) c.6291G>T (p.Gln2097His) c.5919G>T (p.Gln1973His) c.6075G>T (p.Gln2025His) c.6282G>T (p.Gln2094His) c.5583G>T (p.Gln1861His) c.6330G>T (p.Gln2110His)	dbSNP
16	g.3728711C>G	CA394553611	CREBBP	c.6336G>C (p.Gln2112His) c.6222G>C (p.Gln2074His) c.6291G>C (p.Gln2097His) c.5919G>C (p.Gln1973His) c.6075G>C (p.Gln2025His) c.6282G>C (p.Gln2094His) c.5583G>C (p.Gln1861His) c.6330G>C (p.Gln2110His)	dbSNP
16	g.3728711C>T	CA493393620	CREBBP	c.6336G>A (p.Gln2112=) c.6222G>A (p.Gln2074=) c.6291G>A (p.Gln2097=) c.5919G>A (p.Gln1973=) c.6075G>A (p.Gln2025=) c.6282G>A (p.Gln2094=) c.5583G>A (p.Gln1861=) c.6330G>A (p.Gln2110=)	dbSNP
16	g.3728712T>A	CA394553612	CREBBP	c.6335A>T (p.Gln2112Leu) c.6221A>T (p.Gln2074Leu) c.6290A>T (p.Gln2097Leu) c.5918A>T (p.Gln1973Leu) c.6074A>T (p.Gln2025Leu) c.6281A>T (p.Gln2094Leu) c.5582A>T (p.Gln1861Leu) c.6329A>T (p.Gln2110Leu)	dbSNP
16	g.3728712T>C	CA394553613	CREBBP	c.6335A>G (p.Gln2112Arg) c.6221A>G (p.Gln2074Arg) c.6290A>G (p.Gln2097Arg) c.5918A>G (p.Gln1973Arg) c.6074A>G (p.Gln2025Arg) c.6281A>G (p.Gln2094Arg) c.5582A>G (p.Gln1861Arg) c.6329A>G (p.Gln2110Arg)	dbSNP
16	g.3728712T>G	CA394553614	CREBBP	c.6335A>C (p.Gln2112Pro) c.6221A>C (p.Gln2074Pro) c.6290A>C (p.Gln2097Pro) c.5918A>C (p.Gln1973Pro) c.6074A>C (p.Gln2025Pro) c.6281A>C (p.Gln2094Pro) c.5582A>C (p.Gln1861Pro) c.6329A>C (p.Gln2110Pro)	dbSNP
16	g.3728713G>A	CA394553615	CREBBP	c.6334C>T (p.Gln2112Ter) c.6220C>T (p.Gln2074Ter) c.6289C>T (p.Gln2097Ter) c.5917C>T (p.Gln1973Ter) c.6073C>T (p.Gln2025Ter) c.6280C>T (p.Gln2094Ter) c.5581C>T (p.Gln1861Ter) c.6328C>T (p.Gln2110Ter)	dbSNP
16	g.3728713G>C	CA394553616	CREBBP	c.6334C>G (p.Gln2112Glu) c.6220C>G (p.Gln2074Glu) c.6289C>G (p.Gln2097Glu) c.5917C>G (p.Gln1973Glu) c.6073C>G (p.Gln2025Glu) c.6280C>G (p.Gln2094Glu) c.5581C>G (p.Gln1861Glu) c.6328C>G (p.Gln2110Glu)	dbSNP COSMIC
16	g.3728713G>T	CA394553617	CREBBP	c.6334C>A (p.Gln2112Lys) c.6220C>A (p.Gln2074Lys) c.6289C>A (p.Gln2097Lys) c.5917C>A (p.Gln1973Lys) c.6073C>A (p.Gln2025Lys) c.6280C>A (p.Gln2094Lys) c.5581C>A (p.Gln1861Lys) c.6328C>A (p.Gln2110Lys)	dbSNP
16	g.3728714A=	CA2202928825	CREBBP	c.6333T= (p.Asn2111=) c.6219T= (p.Asn2073=) c.6288T= (p.Asn2096=) c.5916T= (p.Asn1972=) c.6072T= (p.Asn2024=) c.6279T= (p.Asn2093=) c.5580T= (p.Asn1860=) c.6327T= (p.Asn2109=)
16	g.3728714A>C	CA7869140	CREBBP	c.6333T>G (p.Asn2111Lys) c.6219T>G (p.Asn2073Lys) c.6288T>G (p.Asn2096Lys) c.5916T>G (p.Asn1972Lys) c.6072T>G (p.Asn2024Lys) c.6279T>G (p.Asn2093Lys) c.5580T>G (p.Asn1860Lys) c.6327T>G (p.Asn2109Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728714A>G	CA493393621	CREBBP	c.6333T>C (p.Asn2111=) c.6219T>C (p.Asn2073=) c.6288T>C (p.Asn2096=) c.5916T>C (p.Asn1972=) c.6072T>C (p.Asn2024=) c.6279T>C (p.Asn2093=) c.5580T>C (p.Asn1860=) c.6327T>C (p.Asn2109=)	dbSNP
16	g.3728714A>T	CA394553618	CREBBP	c.6333T>A (p.Asn2111Lys) c.6219T>A (p.Asn2073Lys) c.6288T>A (p.Asn2096Lys) c.5916T>A (p.Asn1972Lys) c.6072T>A (p.Asn2024Lys) c.6279T>A (p.Asn2093Lys) c.5580T>A (p.Asn1860Lys) c.6327T>A (p.Asn2109Lys)
16	g.3728715T>A	CA394553619	CREBBP	c.6332A>T (p.Asn2111Ile) c.6218A>T (p.Asn2073Ile) c.6287A>T (p.Asn2096Ile) c.5915A>T (p.Asn1972Ile) c.6071A>T (p.Asn2024Ile) c.6278A>T (p.Asn2093Ile) c.5579A>T (p.Asn1860Ile) c.6326A>T (p.Asn2109Ile)	dbSNP
16	g.3728715T>C	CA7869141	CREBBP	c.6332A>G (p.Asn2111Ser) c.6218A>G (p.Asn2073Ser) c.6287A>G (p.Asn2096Ser) c.5915A>G (p.Asn1972Ser) c.6071A>G (p.Asn2024Ser) c.6278A>G (p.Asn2093Ser) c.5579A>G (p.Asn1860Ser) c.6326A>G (p.Asn2109Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728715T>G	CA394553620	CREBBP	c.6332A>C (p.Asn2111Thr) c.6218A>C (p.Asn2073Thr) c.6287A>C (p.Asn2096Thr) c.5915A>C (p.Asn1972Thr) c.6071A>C (p.Asn2024Thr) c.6278A>C (p.Asn2093Thr) c.5579A>C (p.Asn1860Thr) c.6326A>C (p.Asn2109Thr)	dbSNP
16	g.3728715T=	CA2202928826	CREBBP	c.6332A= (p.Asn2111=) c.6218A= (p.Asn2073=) c.6287A= (p.Asn2096=) c.5915A= (p.Asn1972=) c.6071A= (p.Asn2024=) c.6278A= (p.Asn2093=) c.5579A= (p.Asn1860=) c.6326A= (p.Asn2109=)
16	g.3728716T>A	CA394553621	CREBBP	c.6331A>T (p.Asn2111Tyr) c.6217A>T (p.Asn2073Tyr) c.6286A>T (p.Asn2096Tyr) c.5914A>T (p.Asn1972Tyr) c.6070A>T (p.Asn2024Tyr) c.6277A>T (p.Asn2093Tyr) c.5578A>T (p.Asn1860Tyr) c.6325A>T (p.Asn2109Tyr)
16	g.3728716T>C	CA394553622	CREBBP	c.6331A>G (p.Asn2111Asp) c.6217A>G (p.Asn2073Asp) c.6286A>G (p.Asn2096Asp) c.5914A>G (p.Asn1972Asp) c.6070A>G (p.Asn2024Asp) c.6277A>G (p.Asn2093Asp) c.5578A>G (p.Asn1860Asp) c.6325A>G (p.Asn2109Asp)
16	g.3728716T>G	CA7869142	CREBBP	c.6331A>C (p.Asn2111His) c.6217A>C (p.Asn2073His) c.6286A>C (p.Asn2096His) c.5914A>C (p.Asn1972His) c.6070A>C (p.Asn2024His) c.6277A>C (p.Asn2093His) c.5578A>C (p.Asn1860His) c.6325A>C (p.Asn2109His)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728716T=	CA2202928827	CREBBP	c.6331A= (p.Asn2111=) c.6217A= (p.Asn2073=) c.6286A= (p.Asn2096=) c.5914A= (p.Asn1972=) c.6070A= (p.Asn2024=) c.6277A= (p.Asn2093=) c.5578A= (p.Asn1860=) c.6325A= (p.Asn2109=)
16	g.3728716_3728717insCCTCT	CA1139655045	CREBBP	c.6331_6332insGAGGA (p.Asn2111ArgfsTer?) c.6217_6218insGAGGA (p.Asn2073ArgfsTer?) c.6286_6287insGAGGA (p.Asn2096ArgfsTer?) c.5914_5915insGAGGA (p.Asn1972ArgfsTer?) c.6070_6071insGAGGA (p.Asn2024ArgfsTer?) c.6277_6278insGAGGA (p.Asn2093ArgfsTer?) c.5578_5579insGAGGA (p.Asn1860ArgfsTer?) c.6325_6326insGAGGA (p.Asn2109ArgfsTer?)
16	g.3728717G>A	CA493393623	CREBBP	c.6330C>T (p.Ala2110=) c.6216C>T (p.Ala2072=) c.6285C>T (p.Ala2095=) c.5913C>T (p.Ala1971=) c.6069C>T (p.Ala2023=) c.6276C>T (p.Ala2092=) c.5577C>T (p.Ala1859=) c.6324C>T (p.Ala2108=)	dbSNP gnomAD v4
16	g.3728717G>C	CA493393622	CREBBP	c.6330C>G (p.Ala2110=) c.6216C>G (p.Ala2072=) c.6285C>G (p.Ala2095=) c.5913C>G (p.Ala1971=) c.6069C>G (p.Ala2023=) c.6276C>G (p.Ala2092=) c.5577C>G (p.Ala1859=) c.6324C>G (p.Ala2108=)	dbSNP
16	g.3728717G>T	CA493393624	CREBBP	c.6330C>A (p.Ala2110=) c.6216C>A (p.Ala2072=) c.6285C>A (p.Ala2095=) c.5913C>A (p.Ala1971=) c.6069C>A (p.Ala2023=) c.6276C>A (p.Ala2092=) c.5577C>A (p.Ala1859=) c.6324C>A (p.Ala2108=)	dbSNP
16	g.3728718G>A	CA394553623	CREBBP	c.6329C>T (p.Ala2110Val) c.6215C>T (p.Ala2072Val) c.6284C>T (p.Ala2095Val) c.5912C>T (p.Ala1971Val) c.6068C>T (p.Ala2023Val) c.6275C>T (p.Ala2092Val) c.5576C>T (p.Ala1859Val) c.6323C>T (p.Ala2108Val)	dbSNP gnomAD v3 gnomAD v4
16	g.3728718G>C	CA394553624	CREBBP	c.6329C>G (p.Ala2110Gly) c.6215C>G (p.Ala2072Gly) c.6284C>G (p.Ala2095Gly) c.5912C>G (p.Ala1971Gly) c.6068C>G (p.Ala2023Gly) c.6275C>G (p.Ala2092Gly) c.5576C>G (p.Ala1859Gly) c.6323C>G (p.Ala2108Gly)	ClinVar dbSNP
16	g.3728718G=	CA2202928828	CREBBP	c.6329C= (p.Ala2110=) c.6215C= (p.Ala2072=) c.6284C= (p.Ala2095=) c.5912C= (p.Ala1971=) c.6068C= (p.Ala2023=) c.6275C= (p.Ala2092=) c.5576C= (p.Ala1859=) c.6323C= (p.Ala2108=)
16	g.3728718G>T	CA394553625	CREBBP	c.6329C>A (p.Ala2110Asp) c.6215C>A (p.Ala2072Asp) c.6284C>A (p.Ala2095Asp) c.5912C>A (p.Ala1971Asp) c.6068C>A (p.Ala2023Asp) c.6275C>A (p.Ala2092Asp) c.5576C>A (p.Ala1859Asp) c.6323C>A (p.Ala2108Asp)	ClinVar dbSNP
16	g.3728719C>A	CA394553626	CREBBP	c.6328G>T (p.Ala2110Ser) c.6214G>T (p.Ala2072Ser) c.6283G>T (p.Ala2095Ser) c.5911G>T (p.Ala1971Ser) c.6067G>T (p.Ala2023Ser) c.6274G>T (p.Ala2092Ser) c.5575G>T (p.Ala1859Ser) c.6322G>T (p.Ala2108Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728719C=	CA2202928829	CREBBP	c.6328G= (p.Ala2110=) c.6214G= (p.Ala2072=) c.6283G= (p.Ala2095=) c.5911G= (p.Ala1971=) c.6067G= (p.Ala2023=) c.6274G= (p.Ala2092=) c.5575G= (p.Ala1859=) c.6322G= (p.Ala2108=)
16	g.3728719C>G	CA394553627	CREBBP	c.6328G>C (p.Ala2110Pro) c.6214G>C (p.Ala2072Pro) c.6283G>C (p.Ala2095Pro) c.5911G>C (p.Ala1971Pro) c.6067G>C (p.Ala2023Pro) c.6274G>C (p.Ala2092Pro) c.5575G>C (p.Ala1859Pro) c.6322G>C (p.Ala2108Pro)	dbSNP
16	g.3728719C>T	CA394553628	CREBBP	c.6328G>A (p.Ala2110Thr) c.6214G>A (p.Ala2072Thr) c.6283G>A (p.Ala2095Thr) c.5911G>A (p.Ala1971Thr) c.6067G>A (p.Ala2023Thr) c.6274G>A (p.Ala2092Thr) c.5575G>A (p.Ala1859Thr) c.6322G>A (p.Ala2108Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.3728720C>A	CA493393625	CREBBP	c.6327G>T (p.Val2109=) c.6213G>T (p.Val2071=) c.6282G>T (p.Val2094=) c.5910G>T (p.Val1970=) c.6066G>T (p.Val2022=) c.6273G>T (p.Val2091=) c.5574G>T (p.Val1858=) c.6321G>T (p.Val2107=)
16	g.3728720C=	CA2202928830	CREBBP	c.6327G= (p.Val2109=) c.6213G= (p.Val2071=) c.6282G= (p.Val2094=) c.5910G= (p.Val1970=) c.6066G= (p.Val2022=) c.6273G= (p.Val2091=) c.5574G= (p.Val1858=) c.6321G= (p.Val2107=)
16	g.3728720C>G	CA493393626	CREBBP	c.6327G>C (p.Val2109=) c.6213G>C (p.Val2071=) c.6282G>C (p.Val2094=) c.5910G>C (p.Val1970=) c.6066G>C (p.Val2022=) c.6273G>C (p.Val2091=) c.5574G>C (p.Val1858=) c.6321G>C (p.Val2107=)	ClinVar gnomAD v4
16	g.3728720C>T	CA493393627	CREBBP	c.6327G>A (p.Val2109=) c.6213G>A (p.Val2071=) c.6282G>A (p.Val2094=) c.5910G>A (p.Val1970=) c.6066G>A (p.Val2022=) c.6273G>A (p.Val2091=) c.5574G>A (p.Val1858=) c.6321G>A (p.Val2107=)	dbSNP gnomAD v4
16	g.3728721A>C	CA394553629	CREBBP	c.6326T>G (p.Val2109Gly) c.6212T>G (p.Val2071Gly) c.6281T>G (p.Val2094Gly) c.5909T>G (p.Val1970Gly) c.6065T>G (p.Val2022Gly) c.6272T>G (p.Val2091Gly) c.5573T>G (p.Val1858Gly) c.6320T>G (p.Val2107Gly)	dbSNP
16	g.3728721A>G	CA394553630	CREBBP	c.6326T>C (p.Val2109Ala) c.6212T>C (p.Val2071Ala) c.6281T>C (p.Val2094Ala) c.5909T>C (p.Val1970Ala) c.6065T>C (p.Val2022Ala) c.6272T>C (p.Val2091Ala) c.5573T>C (p.Val1858Ala) c.6320T>C (p.Val2107Ala)	dbSNP
16	g.3728721A>T	CA394553631	CREBBP	c.6326T>A (p.Val2109Glu) c.6212T>A (p.Val2071Glu) c.6281T>A (p.Val2094Glu) c.5909T>A (p.Val1970Glu) c.6065T>A (p.Val2022Glu) c.6272T>A (p.Val2091Glu) c.5573T>A (p.Val1858Glu) c.6320T>A (p.Val2107Glu)	dbSNP
16	g.3728722C>A	CA394553632	CREBBP	c.6325G>T (p.Val2109Leu) c.6211G>T (p.Val2071Leu) c.6280G>T (p.Val2094Leu) c.5908G>T (p.Val1970Leu) c.6064G>T (p.Val2022Leu) c.6271G>T (p.Val2091Leu) c.5572G>T (p.Val1858Leu) c.6319G>T (p.Val2107Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728722C=	CA2202928831	CREBBP	c.6325G= (p.Val2109=) c.6211G= (p.Val2071=) c.6280G= (p.Val2094=) c.5908G= (p.Val1970=) c.6064G= (p.Val2022=) c.6271G= (p.Val2091=) c.5572G= (p.Val1858=) c.6319G= (p.Val2107=)
16	g.3728722C>G	CA394553633	CREBBP	c.6325G>C (p.Val2109Leu) c.6211G>C (p.Val2071Leu) c.6280G>C (p.Val2094Leu) c.5908G>C (p.Val1970Leu) c.6064G>C (p.Val2022Leu) c.6271G>C (p.Val2091Leu) c.5572G>C (p.Val1858Leu) c.6319G>C (p.Val2107Leu)	dbSNP gnomAD v4
16	g.3728722C>T	CA394553634	CREBBP	c.6325G>A (p.Val2109Met) c.6211G>A (p.Val2071Met) c.6280G>A (p.Val2094Met) c.5908G>A (p.Val1970Met) c.6064G>A (p.Val2022Met) c.6271G>A (p.Val2091Met) c.5572G>A (p.Val1858Met) c.6319G>A (p.Val2107Met)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.3728723G>A	CA7869143	CREBBP	c.6324C>T (p.Tyr2108=) c.6210C>T (p.Tyr2070=) c.6279C>T (p.Tyr2093=) c.5907C>T (p.Tyr1969=) c.6063C>T (p.Tyr2021=) c.6270C>T (p.Tyr2090=) c.5571C>T (p.Tyr1857=) c.6318C>T (p.Tyr2106=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728723G>C	CA394553635	CREBBP	c.6324C>G (p.Tyr2108Ter) c.6210C>G (p.Tyr2070Ter) c.6279C>G (p.Tyr2093Ter) c.5907C>G (p.Tyr1969Ter) c.6063C>G (p.Tyr2021Ter) c.6270C>G (p.Tyr2090Ter) c.5571C>G (p.Tyr1857Ter) c.6318C>G (p.Tyr2106Ter)	ClinVar dbSNP
16	g.3728723G=	CA2202928832	CREBBP	c.6324C= (p.Tyr2108=) c.6210C= (p.Tyr2070=) c.6279C= (p.Tyr2093=) c.5907C= (p.Tyr1969=) c.6063C= (p.Tyr2021=) c.6270C= (p.Tyr2090=) c.5571C= (p.Tyr1857=) c.6318C= (p.Tyr2106=)
16	g.3728723G>T	CA394553636	CREBBP	c.6324C>A (p.Tyr2108Ter) c.6210C>A (p.Tyr2070Ter) c.6279C>A (p.Tyr2093Ter) c.5907C>A (p.Tyr1969Ter) c.6063C>A (p.Tyr2021Ter) c.6270C>A (p.Tyr2090Ter) c.5571C>A (p.Tyr1857Ter) c.6318C>A (p.Tyr2106Ter)	ClinVar dbSNP
16	g.3728724_3728730del	CA891842206	CREBBP	c.6318_6324del (p.Lys2107TrpfsTer?) c.6204_6210del (p.Lys2069TrpfsTer?) c.6273_6279del (p.Lys2092TrpfsTer?) c.5901_5907del (p.Lys1968TrpfsTer?) c.6057_6063del (p.Lys2020TrpfsTer?) c.6264_6270del (p.Lys2089TrpfsTer?) c.5565_5571del (p.Lys1856TrpfsTer?) c.6312_6318del (p.Lys2105TrpfsTer?)
16	g.3728724T>A	CA394553637	CREBBP	c.6323A>T (p.Tyr2108Phe) c.6209A>T (p.Tyr2070Phe) c.6278A>T (p.Tyr2093Phe) c.5906A>T (p.Tyr1969Phe) c.6062A>T (p.Tyr2021Phe) c.6269A>T (p.Tyr2090Phe) c.5570A>T (p.Tyr1857Phe) c.6317A>T (p.Tyr2106Phe)	dbSNP gnomAD v4
16	g.3728724T>C	CA394553638	CREBBP	c.6323A>G (p.Tyr2108Cys) c.6209A>G (p.Tyr2070Cys) c.6278A>G (p.Tyr2093Cys) c.5906A>G (p.Tyr1969Cys) c.6062A>G (p.Tyr2021Cys) c.6269A>G (p.Tyr2090Cys) c.5570A>G (p.Tyr1857Cys) c.6317A>G (p.Tyr2106Cys)	dbSNP
16	g.3728724T>G	CA394553639	CREBBP	c.6323A>C (p.Tyr2108Ser) c.6209A>C (p.Tyr2070Ser) c.6278A>C (p.Tyr2093Ser) c.5906A>C (p.Tyr1969Ser) c.6062A>C (p.Tyr2021Ser) c.6269A>C (p.Tyr2090Ser) c.5570A>C (p.Tyr1857Ser) c.6317A>C (p.Tyr2106Ser)	dbSNP
16	g.3728725A>C	CA394553640	CREBBP	c.6322T>G (p.Tyr2108Asp) c.6208T>G (p.Tyr2070Asp) c.6277T>G (p.Tyr2093Asp) c.5905T>G (p.Tyr1969Asp) c.6061T>G (p.Tyr2021Asp) c.6268T>G (p.Tyr2090Asp) c.5569T>G (p.Tyr1857Asp) c.6316T>G (p.Tyr2106Asp)	dbSNP
16	g.3728725A>G	CA394553641	CREBBP	c.6322T>C (p.Tyr2108His) c.6208T>C (p.Tyr2070His) c.6277T>C (p.Tyr2093His) c.5905T>C (p.Tyr1969His) c.6061T>C (p.Tyr2021His) c.6268T>C (p.Tyr2090His) c.5569T>C (p.Tyr1857His) c.6316T>C (p.Tyr2106His)	dbSNP
16	g.3728725A>T	CA394553642	CREBBP	c.6322T>A (p.Tyr2108Asn) c.6208T>A (p.Tyr2070Asn) c.6277T>A (p.Tyr2093Asn) c.5905T>A (p.Tyr1969Asn) c.6061T>A (p.Tyr2021Asn) c.6268T>A (p.Tyr2090Asn) c.5569T>A (p.Tyr1857Asn) c.6316T>A (p.Tyr2106Asn)	dbSNP
16	g.3728726C>A	CA394553643	CREBBP	c.6321G>T (p.Lys2107Asn) c.6207G>T (p.Lys2069Asn) c.6276G>T (p.Lys2092Asn) c.5904G>T (p.Lys1968Asn) c.6060G>T (p.Lys2020Asn) c.6267G>T (p.Lys2089Asn) c.5568G>T (p.Lys1856Asn) c.6315G>T (p.Lys2105Asn)
16	g.3728726C>G	CA394553644	CREBBP	c.6321G>C (p.Lys2107Asn) c.6207G>C (p.Lys2069Asn) c.6276G>C (p.Lys2092Asn) c.5904G>C (p.Lys1968Asn) c.6060G>C (p.Lys2020Asn) c.6267G>C (p.Lys2089Asn) c.5568G>C (p.Lys1856Asn) c.6315G>C (p.Lys2105Asn)	dbSNP
16	g.3728726C>T	CA493393628	CREBBP	c.6321G>A (p.Lys2107=) c.6207G>A (p.Lys2069=) c.6276G>A (p.Lys2092=) c.5904G>A (p.Lys1968=) c.6060G>A (p.Lys2020=) c.6267G>A (p.Lys2089=) c.5568G>A (p.Lys1856=) c.6315G>A (p.Lys2105=)	dbSNP
16	g.3728727T>A	CA394553645	CREBBP	c.6320A>T (p.Lys2107Met) c.6206A>T (p.Lys2069Met) c.6275A>T (p.Lys2092Met) c.5903A>T (p.Lys1968Met) c.6059A>T (p.Lys2020Met) c.6266A>T (p.Lys2089Met) c.5567A>T (p.Lys1856Met) c.6314A>T (p.Lys2105Met)	dbSNP
16	g.3728727T>C	CA394553646	CREBBP	c.6320A>G (p.Lys2107Arg) c.6206A>G (p.Lys2069Arg) c.6275A>G (p.Lys2092Arg) c.5903A>G (p.Lys1968Arg) c.6059A>G (p.Lys2020Arg) c.6266A>G (p.Lys2089Arg) c.5567A>G (p.Lys1856Arg) c.6314A>G (p.Lys2105Arg)
16	g.3728727T>G	CA394553647	CREBBP	c.6320A>C (p.Lys2107Thr) c.6206A>C (p.Lys2069Thr) c.6275A>C (p.Lys2092Thr) c.5903A>C (p.Lys1968Thr) c.6059A>C (p.Lys2020Thr) c.6266A>C (p.Lys2089Thr) c.5567A>C (p.Lys1856Thr) c.6314A>C (p.Lys2105Thr)
16	g.3728728T>A	CA394553650	CREBBP	c.6319A>T (p.Lys2107Ter) c.6205A>T (p.Lys2069Ter) c.6274A>T (p.Lys2092Ter) c.5902A>T (p.Lys1968Ter) c.6058A>T (p.Lys2020Ter) c.6265A>T (p.Lys2089Ter) c.5566A>T (p.Lys1856Ter) c.6313A>T (p.Lys2105Ter)
16	g.3728728T>C	CA394553649	CREBBP	c.6319A>G (p.Lys2107Glu) c.6205A>G (p.Lys2069Glu) c.6274A>G (p.Lys2092Glu) c.5902A>G (p.Lys1968Glu) c.6058A>G (p.Lys2020Glu) c.6265A>G (p.Lys2089Glu) c.5566A>G (p.Lys1856Glu) c.6313A>G (p.Lys2105Glu)
16	g.3728728T>G	CA394553648	CREBBP	c.6319A>C (p.Lys2107Gln) c.6205A>C (p.Lys2069Gln) c.6274A>C (p.Lys2092Gln) c.5902A>C (p.Lys1968Gln) c.6058A>C (p.Lys2020Gln) c.6265A>C (p.Lys2089Gln) c.5566A>C (p.Lys1856Gln) c.6313A>C (p.Lys2105Gln)	dbSNP gnomAD v3 gnomAD v4
16	g.3728728T=	CA2202928833	CREBBP	c.6319A= (p.Lys2107=) c.6205A= (p.Lys2069=) c.6274A= (p.Lys2092=) c.5902A= (p.Lys1968=) c.6058A= (p.Lys2020=) c.6265A= (p.Lys2089=) c.5566A= (p.Lys1856=) c.6313A= (p.Lys2105=)
16	g.3728729G>A	CA493393629	CREBBP	c.6318C>T (p.Ala2106=) c.6204C>T (p.Ala2068=) c.6273C>T (p.Ala2091=) c.5901C>T (p.Ala1967=) c.6057C>T (p.Ala2019=) c.6264C>T (p.Ala2088=) c.5565C>T (p.Ala1855=) c.6312C>T (p.Ala2104=)	dbSNP
16	g.3728729G>C	CA493393630	CREBBP	c.6318C>G (p.Ala2106=) c.6204C>G (p.Ala2068=) c.6273C>G (p.Ala2091=) c.5901C>G (p.Ala1967=) c.6057C>G (p.Ala2019=) c.6264C>G (p.Ala2088=) c.5565C>G (p.Ala1855=) c.6312C>G (p.Ala2104=)	dbSNP
16	g.3728729G>T	CA493393631	CREBBP	c.6318C>A (p.Ala2106=) c.6204C>A (p.Ala2068=) c.6273C>A (p.Ala2091=) c.5901C>A (p.Ala1967=) c.6057C>A (p.Ala2019=) c.6264C>A (p.Ala2088=) c.5565C>A (p.Ala1855=) c.6312C>A (p.Ala2104=)	dbSNP
16	g.3728730G>A	CA394553651	CREBBP	c.6317C>T (p.Ala2106Val) c.6203C>T (p.Ala2068Val) c.6272C>T (p.Ala2091Val) c.5900C>T (p.Ala1967Val) c.6056C>T (p.Ala2019Val) c.6263C>T (p.Ala2088Val) c.5564C>T (p.Ala1855Val) c.6311C>T (p.Ala2104Val)	dbSNP
16	g.3728730G>C	CA394553653	CREBBP	c.6317C>G (p.Ala2106Gly) c.6203C>G (p.Ala2068Gly) c.6272C>G (p.Ala2091Gly) c.5900C>G (p.Ala1967Gly) c.6056C>G (p.Ala2019Gly) c.6263C>G (p.Ala2088Gly) c.5564C>G (p.Ala1855Gly) c.6311C>G (p.Ala2104Gly)	dbSNP
16	g.3728730G>T	CA394553652	CREBBP	c.6317C>A (p.Ala2106Asp) c.6203C>A (p.Ala2068Asp) c.6272C>A (p.Ala2091Asp) c.5900C>A (p.Ala1967Asp) c.6056C>A (p.Ala2019Asp) c.6263C>A (p.Ala2088Asp) c.5564C>A (p.Ala1855Asp) c.6311C>A (p.Ala2104Asp)	dbSNP
16	g.3728731C>A	CA394553654	CREBBP	c.6316G>T (p.Ala2106Ser) c.6202G>T (p.Ala2068Ser) c.6271G>T (p.Ala2091Ser) c.5899G>T (p.Ala1967Ser) c.6055G>T (p.Ala2019Ser) c.6262G>T (p.Ala2088Ser) c.5563G>T (p.Ala1855Ser) c.6310G>T (p.Ala2104Ser)
16	g.3728731C>G	CA394553655	CREBBP	c.6316G>C (p.Ala2106Pro) c.6202G>C (p.Ala2068Pro) c.6271G>C (p.Ala2091Pro) c.5899G>C (p.Ala1967Pro) c.6055G>C (p.Ala2019Pro) c.6262G>C (p.Ala2088Pro) c.5563G>C (p.Ala1855Pro) c.6310G>C (p.Ala2104Pro)
16	g.3728731C>T	CA394553656	CREBBP	c.6316G>A (p.Ala2106Thr) c.6202G>A (p.Ala2068Thr) c.6271G>A (p.Ala2091Thr) c.5899G>A (p.Ala1967Thr) c.6055G>A (p.Ala2019Thr) c.6262G>A (p.Ala2088Thr) c.5563G>A (p.Ala1855Thr) c.6310G>A (p.Ala2104Thr)
16	g.3728732T>A	CA493393632	CREBBP	c.6315A>T (p.Thr2105=) c.6201A>T (p.Thr2067=) c.6270A>T (p.Thr2090=) c.5898A>T (p.Thr1966=) c.6054A>T (p.Thr2018=) c.6261A>T (p.Thr2087=) c.5562A>T (p.Thr1854=) c.6309A>T (p.Thr2103=)	dbSNP gnomAD v2 gnomAD v4
16	g.3728732T>C	CA493393633	CREBBP	c.6315A>G (p.Thr2105=) c.6201A>G (p.Thr2067=) c.6270A>G (p.Thr2090=) c.5898A>G (p.Thr1966=) c.6054A>G (p.Thr2018=) c.6261A>G (p.Thr2087=) c.5562A>G (p.Thr1854=) c.6309A>G (p.Thr2103=)	ClinVar dbSNP gnomAD v4
16	g.3728732T>G	CA493393634	CREBBP	c.6315A>C (p.Thr2105=) c.6201A>C (p.Thr2067=) c.6270A>C (p.Thr2090=) c.5898A>C (p.Thr1966=) c.6054A>C (p.Thr2018=) c.6261A>C (p.Thr2087=) c.5562A>C (p.Thr1854=) c.6309A>C (p.Thr2103=)	gnomAD v4
16	g.3728732T=	CA2202928834	CREBBP	c.6315A= (p.Thr2105=) c.6201A= (p.Thr2067=) c.6270A= (p.Thr2090=) c.5898A= (p.Thr1966=) c.6054A= (p.Thr2018=) c.6261A= (p.Thr2087=) c.5562A= (p.Thr1854=) c.6309A= (p.Thr2103=)
16	g.3728733G>A	CA394553657	CREBBP	c.6314C>T (p.Thr2105Ile) c.6200C>T (p.Thr2067Ile) c.6269C>T (p.Thr2090Ile) c.5897C>T (p.Thr1966Ile) c.6053C>T (p.Thr2018Ile) c.6260C>T (p.Thr2087Ile) c.5561C>T (p.Thr1854Ile) c.6308C>T (p.Thr2103Ile)	dbSNP
16	g.3728733G>C	CA394553658	CREBBP	c.6314C>G (p.Thr2105Arg) c.6200C>G (p.Thr2067Arg) c.6269C>G (p.Thr2090Arg) c.5897C>G (p.Thr1966Arg) c.6053C>G (p.Thr2018Arg) c.6260C>G (p.Thr2087Arg) c.5561C>G (p.Thr1854Arg) c.6308C>G (p.Thr2103Arg)	dbSNP
16	g.3728733G>T	CA394553659	CREBBP	c.6314C>A (p.Thr2105Lys) c.6200C>A (p.Thr2067Lys) c.6269C>A (p.Thr2090Lys) c.5897C>A (p.Thr1966Lys) c.6053C>A (p.Thr2018Lys) c.6260C>A (p.Thr2087Lys) c.5561C>A (p.Thr1854Lys) c.6308C>A (p.Thr2103Lys)
16	g.3728734T>A	CA394553660	CREBBP	c.6313A>T (p.Thr2105Ser) c.6199A>T (p.Thr2067Ser) c.6268A>T (p.Thr2090Ser) c.5896A>T (p.Thr1966Ser) c.6052A>T (p.Thr2018Ser) c.6259A>T (p.Thr2087Ser) c.5560A>T (p.Thr1854Ser) c.6307A>T (p.Thr2103Ser)	dbSNP gnomAD v3 gnomAD v4
16	g.3728734T>C	CA7869144	CREBBP	c.6313A>G (p.Thr2105Ala) c.6199A>G (p.Thr2067Ala) c.6268A>G (p.Thr2090Ala) c.5896A>G (p.Thr1966Ala) c.6052A>G (p.Thr2018Ala) c.6259A>G (p.Thr2087Ala) c.5560A>G (p.Thr1854Ala) c.6307A>G (p.Thr2103Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728734T>G	CA394553661	CREBBP	c.6313A>C (p.Thr2105Pro) c.6199A>C (p.Thr2067Pro) c.6268A>C (p.Thr2090Pro) c.5896A>C (p.Thr1966Pro) c.6052A>C (p.Thr2018Pro) c.6259A>C (p.Thr2087Pro) c.5560A>C (p.Thr1854Pro) c.6307A>C (p.Thr2103Pro)	ClinVar dbSNP
16	g.3728734T=	CA2202928835	CREBBP	c.6313A= (p.Thr2105=) c.6199A= (p.Thr2067=) c.6268A= (p.Thr2090=) c.5896A= (p.Thr1966=) c.6052A= (p.Thr2018=) c.6259A= (p.Thr2087=) c.5560A= (p.Thr1854=) c.6307A= (p.Thr2103=)
16	g.3728735G>A	CA493393635	CREBBP	c.6312C>T (p.Arg2104=) c.6198C>T (p.Arg2066=) c.6267C>T (p.Arg2089=) c.5895C>T (p.Arg1965=) c.6051C>T (p.Arg2017=) c.6258C>T (p.Arg2086=) c.5559C>T (p.Arg1853=) c.6306C>T (p.Arg2102=)	dbSNP
16	g.3728735G>C	CA493393636	CREBBP	c.6312C>G (p.Arg2104=) c.6198C>G (p.Arg2066=) c.6267C>G (p.Arg2089=) c.5895C>G (p.Arg1965=) c.6051C>G (p.Arg2017=) c.6258C>G (p.Arg2086=) c.5559C>G (p.Arg1853=) c.6306C>G (p.Arg2102=)	dbSNP gnomAD v4
16	g.3728735G>T	CA493393637	CREBBP	c.6312C>A (p.Arg2104=) c.6198C>A (p.Arg2066=) c.6267C>A (p.Arg2089=) c.5895C>A (p.Arg1965=) c.6051C>A (p.Arg2017=) c.6258C>A (p.Arg2086=) c.5559C>A (p.Arg1853=) c.6306C>A (p.Arg2102=)
16	g.3728736C>A	CA394553662	CREBBP	c.6311G>T (p.Arg2104Leu) c.6197G>T (p.Arg2066Leu) c.6266G>T (p.Arg2089Leu) c.5894G>T (p.Arg1965Leu) c.6050G>T (p.Arg2017Leu) c.6257G>T (p.Arg2086Leu) c.5558G>T (p.Arg1853Leu) c.6305G>T (p.Arg2102Leu)	dbSNP
16	g.3728736C>G	CA394553663	CREBBP	c.6311G>C (p.Arg2104Pro) c.6197G>C (p.Arg2066Pro) c.6266G>C (p.Arg2089Pro) c.5894G>C (p.Arg1965Pro) c.6050G>C (p.Arg2017Pro) c.6257G>C (p.Arg2086Pro) c.5558G>C (p.Arg1853Pro) c.6305G>C (p.Arg2102Pro)	dbSNP gnomAD v4 COSMIC
16	g.3728736C>T	CA394553664	CREBBP	c.6311G>A (p.Arg2104His) c.6197G>A (p.Arg2066His) c.6266G>A (p.Arg2089His) c.5894G>A (p.Arg1965His) c.6050G>A (p.Arg2017His) c.6257G>A (p.Arg2086His) c.5558G>A (p.Arg1853His) c.6305G>A (p.Arg2102His)	dbSNP gnomAD v4
16	g.3728737G>A	CA394553667	CREBBP	c.6310C>T (p.Arg2104Cys) c.6196C>T (p.Arg2066Cys) c.6265C>T (p.Arg2089Cys) c.5893C>T (p.Arg1965Cys) c.6049C>T (p.Arg2017Cys) c.6256C>T (p.Arg2086Cys) c.5557C>T (p.Arg1853Cys) c.6304C>T (p.Arg2102Cys)	ClinVar dbSNP COSMIC
16	g.3728737G>C	CA394553665	CREBBP	c.6310C>G (p.Arg2104Gly) c.6196C>G (p.Arg2066Gly) c.6265C>G (p.Arg2089Gly) c.5893C>G (p.Arg1965Gly) c.6049C>G (p.Arg2017Gly) c.6256C>G (p.Arg2086Gly) c.5557C>G (p.Arg1853Gly) c.6304C>G (p.Arg2102Gly)	dbSNP gnomAD v4
16	g.3728737G=	CA2202928836	CREBBP	c.6310C= (p.Arg2104=) c.6196C= (p.Arg2066=) c.6265C= (p.Arg2089=) c.5893C= (p.Arg1965=) c.6049C= (p.Arg2017=) c.6256C= (p.Arg2086=) c.5557C= (p.Arg1853=) c.6304C= (p.Arg2102=)
16	g.3728737G>T	CA394553666	CREBBP	c.6310C>A (p.Arg2104Ser) c.6196C>A (p.Arg2066Ser) c.6265C>A (p.Arg2089Ser) c.5893C>A (p.Arg1965Ser) c.6049C>A (p.Arg2017Ser) c.6256C>A (p.Arg2086Ser) c.5557C>A (p.Arg1853Ser) c.6304C>A (p.Arg2102Ser)	dbSNP
16	g.3728738C>A	CA394553668	CREBBP	c.6309G>T (p.Gln2103His) c.6195G>T (p.Gln2065His) c.6264G>T (p.Gln2088His) c.5892G>T (p.Gln1964His) c.6048G>T (p.Gln2016His) c.6255G>T (p.Gln2085His) c.5556G>T (p.Gln1852His) c.6303G>T (p.Gln2101His)	dbSNP
16	g.3728738C=	CA2202928837	CREBBP	c.6309G= (p.Gln2103=) c.6195G= (p.Gln2065=) c.6264G= (p.Gln2088=) c.5892G= (p.Gln1964=) c.6048G= (p.Gln2016=) c.6255G= (p.Gln2085=) c.5556G= (p.Gln1852=) c.6303G= (p.Gln2101=)
16	g.3728738C>G	CA394553669	CREBBP	c.6309G>C (p.Gln2103His) c.6195G>C (p.Gln2065His) c.6264G>C (p.Gln2088His) c.5892G>C (p.Gln1964His) c.6048G>C (p.Gln2016His) c.6255G>C (p.Gln2085His) c.5556G>C (p.Gln1852His) c.6303G>C (p.Gln2101His)	dbSNP
16	g.3728738C>T	CA7869145	CREBBP	c.6309G>A (p.Gln2103=) c.6195G>A (p.Gln2065=) c.6264G>A (p.Gln2088=) c.5892G>A (p.Gln1964=) c.6048G>A (p.Gln2016=) c.6255G>A (p.Gln2085=) c.5556G>A (p.Gln1852=) c.6303G>A (p.Gln2101=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728739T>A	CA394553670	CREBBP	c.6308A>T (p.Gln2103Leu) c.6194A>T (p.Gln2065Leu) c.6263A>T (p.Gln2088Leu) c.5891A>T (p.Gln1964Leu) c.6047A>T (p.Gln2016Leu) c.6254A>T (p.Gln2085Leu) c.5555A>T (p.Gln1852Leu) c.6302A>T (p.Gln2101Leu)	dbSNP
16	g.3728739T>C	CA394553671	CREBBP	c.6308A>G (p.Gln2103Arg) c.6194A>G (p.Gln2065Arg) c.6263A>G (p.Gln2088Arg) c.5891A>G (p.Gln1964Arg) c.6047A>G (p.Gln2016Arg) c.6254A>G (p.Gln2085Arg) c.5555A>G (p.Gln1852Arg) c.6302A>G (p.Gln2101Arg)	dbSNP
16	g.3728739T>G	CA394553672	CREBBP	c.6308A>C (p.Gln2103Pro) c.6194A>C (p.Gln2065Pro) c.6263A>C (p.Gln2088Pro) c.5891A>C (p.Gln1964Pro) c.6047A>C (p.Gln2016Pro) c.6254A>C (p.Gln2085Pro) c.5555A>C (p.Gln1852Pro) c.6302A>C (p.Gln2101Pro)	dbSNP
16	g.3728740G>A	CA394553673	CREBBP	c.6307C>T (p.Gln2103Ter) c.6193C>T (p.Gln2065Ter) c.6262C>T (p.Gln2088Ter) c.5890C>T (p.Gln1964Ter) c.6046C>T (p.Gln2016Ter) c.6253C>T (p.Gln2085Ter) c.5554C>T (p.Gln1852Ter) c.6301C>T (p.Gln2101Ter)	ClinVar
16	g.3728740G>C	CA394553674	CREBBP	c.6307C>G (p.Gln2103Glu) c.6193C>G (p.Gln2065Glu) c.6262C>G (p.Gln2088Glu) c.5890C>G (p.Gln1964Glu) c.6046C>G (p.Gln2016Glu) c.6253C>G (p.Gln2085Glu) c.5554C>G (p.Gln1852Glu) c.6301C>G (p.Gln2101Glu)
16	g.3728740G=	CA2202928838	CREBBP	c.6307C= (p.Gln2103=) c.6193C= (p.Gln2065=) c.6262C= (p.Gln2088=) c.5890C= (p.Gln1964=) c.6046C= (p.Gln2016=) c.6253C= (p.Gln2085=) c.5554C= (p.Gln1852=) c.6301C= (p.Gln2101=)
16	g.3728740G>T	CA394553675	CREBBP	c.6307C>A (p.Gln2103Lys) c.6193C>A (p.Gln2065Lys) c.6262C>A (p.Gln2088Lys) c.5890C>A (p.Gln1964Lys) c.6046C>A (p.Gln2016Lys) c.6253C>A (p.Gln2085Lys) c.5554C>A (p.Gln1852Lys) c.6301C>A (p.Gln2101Lys)	dbSNP
16	g.3728741T>A	CA394553676	CREBBP	c.6306A>T (p.Lys2102Asn) c.6192A>T (p.Lys2064Asn) c.6261A>T (p.Lys2087Asn) c.5889A>T (p.Lys1963Asn) c.6045A>T (p.Lys2015Asn) c.6252A>T (p.Lys2084Asn) c.5553A>T (p.Lys1851Asn) c.6300A>T (p.Lys2100Asn)	dbSNP
16	g.3728741T>C	CA493393638	CREBBP	c.6306A>G (p.Lys2102=) c.6192A>G (p.Lys2064=) c.6261A>G (p.Lys2087=) c.5889A>G (p.Lys1963=) c.6045A>G (p.Lys2015=) c.6252A>G (p.Lys2084=) c.5553A>G (p.Lys1851=) c.6300A>G (p.Lys2100=)	dbSNP
16	g.3728741T>G	CA394553677	CREBBP	c.6306A>C (p.Lys2102Asn) c.6192A>C (p.Lys2064Asn) c.6261A>C (p.Lys2087Asn) c.5889A>C (p.Lys1963Asn) c.6045A>C (p.Lys2015Asn) c.6252A>C (p.Lys2084Asn) c.5553A>C (p.Lys1851Asn) c.6300A>C (p.Lys2100Asn)	dbSNP
16	g.3728742T>A	CA394553680	CREBBP	c.6305A>T (p.Lys2102Ile) c.6191A>T (p.Lys2064Ile) c.6260A>T (p.Lys2087Ile) c.5888A>T (p.Lys1963Ile) c.6044A>T (p.Lys2015Ile) c.6251A>T (p.Lys2084Ile) c.5552A>T (p.Lys1851Ile) c.6299A>T (p.Lys2100Ile)
16	g.3728742T>C	CA394553679	CREBBP	c.6305A>G (p.Lys2102Arg) c.6191A>G (p.Lys2064Arg) c.6260A>G (p.Lys2087Arg) c.5888A>G (p.Lys1963Arg) c.6044A>G (p.Lys2015Arg) c.6251A>G (p.Lys2084Arg) c.5552A>G (p.Lys1851Arg) c.6299A>G (p.Lys2100Arg)	dbSNP
16	g.3728742T>G	CA394553678	CREBBP	c.6305A>C (p.Lys2102Thr) c.6191A>C (p.Lys2064Thr) c.6260A>C (p.Lys2087Thr) c.5888A>C (p.Lys1963Thr) c.6044A>C (p.Lys2015Thr) c.6251A>C (p.Lys2084Thr) c.5552A>C (p.Lys1851Thr) c.6299A>C (p.Lys2100Thr)	dbSNP
16	g.3728743T>A	CA394553681	CREBBP	c.6304A>T (p.Lys2102Ter) c.6190A>T (p.Lys2064Ter) c.6259A>T (p.Lys2087Ter) c.5887A>T (p.Lys1963Ter) c.6043A>T (p.Lys2015Ter) c.6250A>T (p.Lys2084Ter) c.5551A>T (p.Lys1851Ter) c.6298A>T (p.Lys2100Ter)	dbSNP
16	g.3728743T>C	CA7869146	CREBBP	c.6304A>G (p.Lys2102Glu) c.6190A>G (p.Lys2064Glu) c.6259A>G (p.Lys2087Glu) c.5887A>G (p.Lys1963Glu) c.6043A>G (p.Lys2015Glu) c.6250A>G (p.Lys2084Glu) c.5551A>G (p.Lys1851Glu) c.6298A>G (p.Lys2100Glu)	ClinVar dbSNP ExAC gnomAD v2
16	g.3728743T>G	CA394553682	CREBBP	c.6304A>C (p.Lys2102Gln) c.6190A>C (p.Lys2064Gln) c.6259A>C (p.Lys2087Gln) c.5887A>C (p.Lys1963Gln) c.6043A>C (p.Lys2015Gln) c.6250A>C (p.Lys2084Gln) c.5551A>C (p.Lys1851Gln) c.6298A>C (p.Lys2100Gln)
16	g.3728743T=	CA2202928839	CREBBP	c.6304A= (p.Lys2102=) c.6190A= (p.Lys2064=) c.6259A= (p.Lys2087=) c.5887A= (p.Lys1963=) c.6043A= (p.Lys2015=) c.6250A= (p.Lys2084=) c.5551A= (p.Lys1851=) c.6298A= (p.Lys2100=)
16	g.3728744G>A	CA7869147	CREBBP	c.6303C>T (p.Ile2101=) c.6189C>T (p.Ile2063=) c.6258C>T (p.Ile2086=) c.5886C>T (p.Ile1962=) c.6042C>T (p.Ile2014=) c.6249C>T (p.Ile2083=) c.5550C>T (p.Ile1850=) c.6297C>T (p.Ile2099=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3728744G>C	CA394553683	CREBBP	c.6303C>G (p.Ile2101Met) c.6189C>G (p.Ile2063Met) c.6258C>G (p.Ile2086Met) c.5886C>G (p.Ile1962Met) c.6042C>G (p.Ile2014Met) c.6249C>G (p.Ile2083Met) c.5550C>G (p.Ile1850Met) c.6297C>G (p.Ile2099Met)	ClinVar dbSNP COSMIC
16	g.3728744G=	CA2202928840	CREBBP	c.6303C= (p.Ile2101=) c.6189C= (p.Ile2063=) c.6258C= (p.Ile2086=) c.5886C= (p.Ile1962=) c.6042C= (p.Ile2014=) c.6249C= (p.Ile2083=) c.5550C= (p.Ile1850=) c.6297C= (p.Ile2099=)
16	g.3728744G>T	CA493393639	CREBBP	c.6303C>A (p.Ile2101=) c.6189C>A (p.Ile2063=) c.6258C>A (p.Ile2086=) c.5886C>A (p.Ile1962=) c.6042C>A (p.Ile2014=) c.6249C>A (p.Ile2083=) c.5550C>A (p.Ile1850=) c.6297C>A (p.Ile2099=)	dbSNP gnomAD v2 gnomAD v4
16	g.3728745A>C	CA394553684	CREBBP	c.6302T>G (p.Ile2101Ser) c.6188T>G (p.Ile2063Ser) c.6257T>G (p.Ile2086Ser) c.5885T>G (p.Ile1962Ser) c.6041T>G (p.Ile2014Ser) c.6248T>G (p.Ile2083Ser) c.5549T>G (p.Ile1850Ser) c.6296T>G (p.Ile2099Ser)
16	g.3728745A>G	CA394553685	CREBBP	c.6302T>C (p.Ile2101Thr) c.6188T>C (p.Ile2063Thr) c.6257T>C (p.Ile2086Thr) c.5885T>C (p.Ile1962Thr) c.6041T>C (p.Ile2014Thr) c.6248T>C (p.Ile2083Thr) c.5549T>C (p.Ile1850Thr) c.6296T>C (p.Ile2099Thr)
16	g.3728745A>T	CA394553686	CREBBP	c.6302T>A (p.Ile2101Asn) c.6188T>A (p.Ile2063Asn) c.6257T>A (p.Ile2086Asn) c.5885T>A (p.Ile1962Asn) c.6041T>A (p.Ile2014Asn) c.6248T>A (p.Ile2083Asn) c.5549T>A (p.Ile1850Asn) c.6296T>A (p.Ile2099Asn)
16	g.3728746T>A	CA394553687	CREBBP	c.6301A>T (p.Ile2101Phe) c.6187A>T (p.Ile2063Phe) c.6256A>T (p.Ile2086Phe) c.5884A>T (p.Ile1962Phe) c.6040A>T (p.Ile2014Phe) c.6247A>T (p.Ile2083Phe) c.5548A>T (p.Ile1850Phe) c.6295A>T (p.Ile2099Phe)
16	g.3728746T>C	CA394553688	CREBBP	c.6301A>G (p.Ile2101Val) c.6187A>G (p.Ile2063Val) c.6256A>G (p.Ile2086Val) c.5884A>G (p.Ile1962Val) c.6040A>G (p.Ile2014Val) c.6247A>G (p.Ile2083Val) c.5548A>G (p.Ile1850Val) c.6295A>G (p.Ile2099Val)	ClinVar
16	g.3728746T>G	CA394553689	CREBBP	c.6301A>C (p.Ile2101Leu) c.6187A>C (p.Ile2063Leu) c.6256A>C (p.Ile2086Leu) c.5884A>C (p.Ile1962Leu) c.6040A>C (p.Ile2014Leu) c.6247A>C (p.Ile2083Leu) c.5548A>C (p.Ile1850Leu) c.6295A>C (p.Ile2099Leu)
16	g.3728747G>A	CA493393640	CREBBP	c.6300C>T (p.Phe2100=) c.6186C>T (p.Phe2062=) c.6255C>T (p.Phe2085=) c.5883C>T (p.Phe1961=) c.6039C>T (p.Phe2013=) c.6246C>T (p.Phe2082=) c.5547C>T (p.Phe1849=) c.6294C>T (p.Phe2098=)	dbSNP gnomAD v4
16	g.3728747G>C	CA394553690	CREBBP	c.6300C>G (p.Phe2100Leu) c.6186C>G (p.Phe2062Leu) c.6255C>G (p.Phe2085Leu) c.5883C>G (p.Phe1961Leu) c.6039C>G (p.Phe2013Leu) c.6246C>G (p.Phe2082Leu) c.5547C>G (p.Phe1849Leu) c.6294C>G (p.Phe2098Leu)	dbSNP
16	g.3728747G>T	CA394553691	CREBBP	c.6300C>A (p.Phe2100Leu) c.6186C>A (p.Phe2062Leu) c.6255C>A (p.Phe2085Leu) c.5883C>A (p.Phe1961Leu) c.6039C>A (p.Phe2013Leu) c.6246C>A (p.Phe2082Leu) c.5547C>A (p.Phe1849Leu) c.6294C>A (p.Phe2098Leu)
16	g.3728748A>C	CA394553694	CREBBP	c.6299T>G (p.Phe2100Cys) c.6185T>G (p.Phe2062Cys) c.6254T>G (p.Phe2085Cys) c.5882T>G (p.Phe1961Cys) c.6038T>G (p.Phe2013Cys) c.6245T>G (p.Phe2082Cys) c.5546T>G (p.Phe1849Cys) c.6293T>G (p.Phe2098Cys)
16	g.3728748A>G	CA394553692	CREBBP	c.6299T>C (p.Phe2100Ser) c.6185T>C (p.Phe2062Ser) c.6254T>C (p.Phe2085Ser) c.5882T>C (p.Phe1961Ser) c.6038T>C (p.Phe2013Ser) c.6245T>C (p.Phe2082Ser) c.5546T>C (p.Phe1849Ser) c.6293T>C (p.Phe2098Ser)
16	g.3728748A>T	CA394553693	CREBBP	c.6299T>A (p.Phe2100Tyr) c.6185T>A (p.Phe2062Tyr) c.6254T>A (p.Phe2085Tyr) c.5882T>A (p.Phe1961Tyr) c.6038T>A (p.Phe2013Tyr) c.6245T>A (p.Phe2082Tyr) c.5546T>A (p.Phe1849Tyr) c.6293T>A (p.Phe2098Tyr)
16	g.3728749A>C	CA394553695	CREBBP	c.6298T>G (p.Phe2100Val) c.6184T>G (p.Phe2062Val) c.6253T>G (p.Phe2085Val) c.5881T>G (p.Phe1961Val) c.6037T>G (p.Phe2013Val) c.6244T>G (p.Phe2082Val) c.5545T>G (p.Phe1849Val) c.6292T>G (p.Phe2098Val)
16	g.3728749A>G	CA394553696	CREBBP	c.6298T>C (p.Phe2100Leu) c.6184T>C (p.Phe2062Leu) c.6253T>C (p.Phe2085Leu) c.5881T>C (p.Phe1961Leu) c.6037T>C (p.Phe2013Leu) c.6244T>C (p.Phe2082Leu) c.5545T>C (p.Phe1849Leu) c.6292T>C (p.Phe2098Leu)
16	g.3728749A>T	CA394553697	CREBBP	c.6298T>A (p.Phe2100Ile) c.6184T>A (p.Phe2062Ile) c.6253T>A (p.Phe2085Ile) c.5881T>A (p.Phe1961Ile) c.6037T>A (p.Phe2013Ile) c.6244T>A (p.Phe2082Ile) c.5545T>A (p.Phe1849Ile) c.6292T>A (p.Phe2098Ile)	dbSNP
16	g.3728750A>C	CA493393641	CREBBP	c.6297T>G (p.Ala2099=) c.6183T>G (p.Ala2061=) c.6252T>G (p.Ala2084=) c.5880T>G (p.Ala1960=) c.6036T>G (p.Ala2012=) c.6243T>G (p.Ala2081=) c.5544T>G (p.Ala1848=) c.6291T>G (p.Ala2097=)
16	g.3728750A>G	CA493393642	CREBBP	c.6297T>C (p.Ala2099=) c.6183T>C (p.Ala2061=) c.6252T>C (p.Ala2084=) c.5880T>C (p.Ala1960=) c.6036T>C (p.Ala2012=) c.6243T>C (p.Ala2081=) c.5544T>C (p.Ala1848=) c.6291T>C (p.Ala2097=)
16	g.3728750A>T	CA493393643	CREBBP	c.6297T>A (p.Ala2099=) c.6183T>A (p.Ala2061=) c.6252T>A (p.Ala2084=) c.5880T>A (p.Ala1960=) c.6036T>A (p.Ala2012=) c.6243T>A (p.Ala2081=) c.5544T>A (p.Ala1848=) c.6291T>A (p.Ala2097=)	dbSNP
16	g.3728751G>A	CA394553698	CREBBP	c.6296C>T (p.Ala2099Val) c.6182C>T (p.Ala2061Val) c.6251C>T (p.Ala2084Val) c.5879C>T (p.Ala1960Val) c.6035C>T (p.Ala2012Val) c.6242C>T (p.Ala2081Val) c.5543C>T (p.Ala1848Val) c.6290C>T (p.Ala2097Val)	dbSNP
16	g.3728751G>C	CA7869148	CREBBP	c.6296C>G (p.Ala2099Gly) c.6182C>G (p.Ala2061Gly) c.6251C>G (p.Ala2084Gly) c.5879C>G (p.Ala1960Gly) c.6035C>G (p.Ala2012Gly) c.6242C>G (p.Ala2081Gly) c.5543C>G (p.Ala1848Gly) c.6290C>G (p.Ala2097Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3728751G=	CA2202928841	CREBBP	c.6296C= (p.Ala2099=) c.6182C= (p.Ala2061=) c.6251C= (p.Ala2084=) c.5879C= (p.Ala1960=) c.6035C= (p.Ala2012=) c.6242C= (p.Ala2081=) c.5543C= (p.Ala1848=) c.6290C= (p.Ala2097=)
16	g.3728751G>T	CA394553699	CREBBP	c.6296C>A (p.Ala2099Asp) c.6182C>A (p.Ala2061Asp) c.6251C>A (p.Ala2084Asp) c.5879C>A (p.Ala1960Asp) c.6035C>A (p.Ala2012Asp) c.6242C>A (p.Ala2081Asp) c.5543C>A (p.Ala1848Asp) c.6290C>A (p.Ala2097Asp)	dbSNP
16	g.3728752C>A	CA394553700	CREBBP	c.6295G>T (p.Ala2099Ser) c.6181G>T (p.Ala2061Ser) c.6250G>T (p.Ala2084Ser) c.5878G>T (p.Ala1960Ser) c.6034G>T (p.Ala2012Ser) c.6241G>T (p.Ala2081Ser) c.5542G>T (p.Ala1848Ser) c.6289G>T (p.Ala2097Ser)	dbSNP
16	g.3728752C=	CA2202928842	CREBBP	c.6295G= (p.Ala2099=) c.6181G= (p.Ala2061=) c.6250G= (p.Ala2084=) c.5878G= (p.Ala1960=) c.6034G= (p.Ala2012=) c.6241G= (p.Ala2081=) c.5542G= (p.Ala1848=) c.6289G= (p.Ala2097=)
16	g.3728752C>G	CA394553701	CREBBP	c.6295G>C (p.Ala2099Pro) c.6181G>C (p.Ala2061Pro) c.6250G>C (p.Ala2084Pro) c.5878G>C (p.Ala1960Pro) c.6034G>C (p.Ala2012Pro) c.6241G>C (p.Ala2081Pro) c.5542G>C (p.Ala1848Pro) c.6289G>C (p.Ala2097Pro)	dbSNP
16	g.3728752C>T	CA7869149	CREBBP	c.6295G>A (p.Ala2099Thr) c.6181G>A (p.Ala2061Thr) c.6250G>A (p.Ala2084Thr) c.5878G>A (p.Ala1960Thr) c.6034G>A (p.Ala2012Thr) c.6241G>A (p.Ala2081Thr) c.5542G>A (p.Ala1848Thr) c.6289G>A (p.Ala2097Thr)	dbSNP ExAC gnomAD v2
16	g.3728753T>A	CA493393644	CREBBP	c.6294A>T (p.Ala2098=) c.6180A>T (p.Ala2060=) c.6249A>T (p.Ala2083=) c.5877A>T (p.Ala1959=) c.6033A>T (p.Ala2011=) c.6240A>T (p.Ala2080=) c.5541A>T (p.Ala1847=) c.6288A>T (p.Ala2096=)	dbSNP
16	g.3728753T>C	CA493393645	CREBBP	c.6294A>G (p.Ala2098=) c.6180A>G (p.Ala2060=) c.6249A>G (p.Ala2083=) c.5877A>G (p.Ala1959=) c.6033A>G (p.Ala2011=) c.6240A>G (p.Ala2080=) c.5541A>G (p.Ala1847=) c.6288A>G (p.Ala2096=)
16	g.3728753T>G	CA493393646	CREBBP	c.6294A>C (p.Ala2098=) c.6180A>C (p.Ala2060=) c.6249A>C (p.Ala2083=) c.5877A>C (p.Ala1959=) c.6033A>C (p.Ala2011=) c.6240A>C (p.Ala2080=) c.5541A>C (p.Ala1847=) c.6288A>C (p.Ala2096=)
16	g.3728754G>A	CA394553702	CREBBP	c.6293C>T (p.Ala2098Val) c.6179C>T (p.Ala2060Val) c.6248C>T (p.Ala2083Val) c.5876C>T (p.Ala1959Val) c.6032C>T (p.Ala2011Val) c.6239C>T (p.Ala2080Val) c.5540C>T (p.Ala1847Val) c.6287C>T (p.Ala2096Val)	ClinVar gnomAD v4
16	g.3728754G>C	CA394553703	CREBBP	c.6293C>G (p.Ala2098Gly) c.6179C>G (p.Ala2060Gly) c.6248C>G (p.Ala2083Gly) c.5876C>G (p.Ala1959Gly) c.6032C>G (p.Ala2011Gly) c.6239C>G (p.Ala2080Gly) c.5540C>G (p.Ala1847Gly) c.6287C>G (p.Ala2096Gly)
16	g.3728754G>T	CA394553704	CREBBP	c.6293C>A (p.Ala2098Glu) c.6179C>A (p.Ala2060Glu) c.6248C>A (p.Ala2083Glu) c.5876C>A (p.Ala1959Glu) c.6032C>A (p.Ala2011Glu) c.6239C>A (p.Ala2080Glu) c.5540C>A (p.Ala1847Glu) c.6287C>A (p.Ala2096Glu)
16	g.3728755C>A	CA394553706	CREBBP	c.6292G>T (p.Ala2098Ser) c.6178G>T (p.Ala2060Ser) c.6247G>T (p.Ala2083Ser) c.5875G>T (p.Ala1959Ser) c.6031G>T (p.Ala2011Ser) c.6238G>T (p.Ala2080Ser) c.5539G>T (p.Ala1847Ser) c.6286G>T (p.Ala2096Ser)	dbSNP COSMIC
16	g.3728755C>G	CA394553707	CREBBP	c.6292G>C (p.Ala2098Pro) c.6178G>C (p.Ala2060Pro) c.6247G>C (p.Ala2083Pro) c.5875G>C (p.Ala1959Pro) c.6031G>C (p.Ala2011Pro) c.6238G>C (p.Ala2080Pro) c.5539G>C (p.Ala1847Pro) c.6286G>C (p.Ala2096Pro)	dbSNP
16	g.3728755C>T	CA394553705	CREBBP	c.6292G>A (p.Ala2098Thr) c.6178G>A (p.Ala2060Thr) c.6247G>A (p.Ala2083Thr) c.5875G>A (p.Ala1959Thr) c.6031G>A (p.Ala2011Thr) c.6238G>A (p.Ala2080Thr) c.5539G>A (p.Ala1847Thr) c.6286G>A (p.Ala2096Thr)	dbSNP COSMIC
16	g.3728756C>A	CA394553710	CREBBP	c.6291G>T (p.Met2097Ile) c.6177G>T (p.Met2059Ile) c.6246G>T (p.Met2082Ile) c.5874G>T (p.Met1958Ile) c.6030G>T (p.Met2010Ile) c.6237G>T (p.Met2079Ile) c.5538G>T (p.Met1846Ile) c.6285G>T (p.Met2095Ile)
16	g.3728756C>G	CA394553708	CREBBP	c.6291G>C (p.Met2097Ile) c.6177G>C (p.Met2059Ile) c.6246G>C (p.Met2082Ile) c.5874G>C (p.Met1958Ile) c.6030G>C (p.Met2010Ile) c.6237G>C (p.Met2079Ile) c.5538G>C (p.Met1846Ile) c.6285G>C (p.Met2095Ile)	dbSNP
16	g.3728756C>T	CA394553709	CREBBP	c.6291G>A (p.Met2097Ile) c.6177G>A (p.Met2059Ile) c.6246G>A (p.Met2082Ile) c.5874G>A (p.Met1958Ile) c.6030G>A (p.Met2010Ile) c.6237G>A (p.Met2079Ile) c.5538G>A (p.Met1846Ile) c.6285G>A (p.Met2095Ile)	dbSNP
16	g.3728757A>C	CA394553711	CREBBP	c.6290T>G (p.Met2097Arg) c.6176T>G (p.Met2059Arg) c.6245T>G (p.Met2082Arg) c.5873T>G (p.Met1958Arg) c.6029T>G (p.Met2010Arg) c.6236T>G (p.Met2079Arg) c.5537T>G (p.Met1846Arg) c.6284T>G (p.Met2095Arg)
16	g.3728757A>G	CA394553712	CREBBP	c.6290T>C (p.Met2097Thr) c.6176T>C (p.Met2059Thr) c.6245T>C (p.Met2082Thr) c.5873T>C (p.Met1958Thr) c.6029T>C (p.Met2010Thr) c.6236T>C (p.Met2079Thr) c.5537T>C (p.Met1846Thr) c.6284T>C (p.Met2095Thr)	dbSNP
16	g.3728757A>T	CA394553713	CREBBP	c.6290T>A (p.Met2097Lys) c.6176T>A (p.Met2059Lys) c.6245T>A (p.Met2082Lys) c.5873T>A (p.Met1958Lys) c.6029T>A (p.Met2010Lys) c.6236T>A (p.Met2079Lys) c.5537T>A (p.Met1846Lys) c.6284T>A (p.Met2095Lys)
16	g.3728758T>A	CA394553714	CREBBP	c.6289A>T (p.Met2097Leu) c.6175A>T (p.Met2059Leu) c.6244A>T (p.Met2082Leu) c.5872A>T (p.Met1958Leu) c.6028A>T (p.Met2010Leu) c.6235A>T (p.Met2079Leu) c.5536A>T (p.Met1846Leu) c.6283A>T (p.Met2095Leu)	dbSNP
16	g.3728758T>C	CA394553715	CREBBP	c.6289A>G (p.Met2097Val) c.6175A>G (p.Met2059Val) c.6244A>G (p.Met2082Val) c.5872A>G (p.Met1958Val) c.6028A>G (p.Met2010Val) c.6235A>G (p.Met2079Val) c.5536A>G (p.Met1846Val) c.6283A>G (p.Met2095Val)
16	g.3728758T>G	CA394553716	CREBBP	c.6289A>C (p.Met2097Leu) c.6175A>C (p.Met2059Leu) c.6244A>C (p.Met2082Leu) c.5872A>C (p.Met1958Leu) c.6028A>C (p.Met2010Leu) c.6235A>C (p.Met2079Leu) c.5536A>C (p.Met1846Leu) c.6283A>C (p.Met2095Leu)	dbSNP
16	g.3728759T>A	CA493393649	CREBBP	c.6288A>T (p.Leu2096=) c.6174A>T (p.Leu2058=) c.6243A>T (p.Leu2081=) c.5871A>T (p.Leu1957=) c.6027A>T (p.Leu2009=) c.6234A>T (p.Leu2078=) c.5535A>T (p.Leu1845=) c.6282A>T (p.Leu2094=)
16	g.3728759T>C	CA493393648	CREBBP	c.6288A>G (p.Leu2096=) c.6174A>G (p.Leu2058=) c.6243A>G (p.Leu2081=) c.5871A>G (p.Leu1957=) c.6027A>G (p.Leu2009=) c.6234A>G (p.Leu2078=) c.5535A>G (p.Leu1845=) c.6282A>G (p.Leu2094=)
16	g.3728759T>G	CA493393647	CREBBP	c.6288A>C (p.Leu2096=) c.6174A>C (p.Leu2058=) c.6243A>C (p.Leu2081=) c.5871A>C (p.Leu1957=) c.6027A>C (p.Leu2009=) c.6234A>C (p.Leu2078=) c.5535A>C (p.Leu1845=) c.6282A>C (p.Leu2094=)	dbSNP gnomAD v3 gnomAD v4
16	g.3728759T=	CA2202928843	CREBBP	c.6288A= (p.Leu2096=) c.6174A= (p.Leu2058=) c.6243A= (p.Leu2081=) c.5871A= (p.Leu1957=) c.6027A= (p.Leu2009=) c.6234A= (p.Leu2078=) c.5535A= (p.Leu1845=) c.6282A= (p.Leu2094=)
16	g.3728760A>C	CA394553717	CREBBP	c.6287T>G (p.Leu2096Arg) c.6173T>G (p.Leu2058Arg) c.6242T>G (p.Leu2081Arg) c.5870T>G (p.Leu1957Arg) c.6026T>G (p.Leu2009Arg) c.6233T>G (p.Leu2078Arg) c.5534T>G (p.Leu1845Arg) c.6281T>G (p.Leu2094Arg)
16	g.3728760A>G	CA394553718	CREBBP	c.6287T>C (p.Leu2096Pro) c.6173T>C (p.Leu2058Pro) c.6242T>C (p.Leu2081Pro) c.5870T>C (p.Leu1957Pro) c.6026T>C (p.Leu2009Pro) c.6233T>C (p.Leu2078Pro) c.5534T>C (p.Leu1845Pro) c.6281T>C (p.Leu2094Pro)	dbSNP
16	g.3728760A>T	CA394553719	CREBBP	c.6287T>A (p.Leu2096Gln) c.6173T>A (p.Leu2058Gln) c.6242T>A (p.Leu2081Gln) c.5870T>A (p.Leu1957Gln) c.6026T>A (p.Leu2009Gln) c.6233T>A (p.Leu2078Gln) c.5534T>A (p.Leu1845Gln) c.6281T>A (p.Leu2094Gln)	dbSNP

Number of alleles fetched