Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3727470_3727786delinsAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA	CA2202928149	CREBBP	c.7261_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7261_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2421=]) c.7147_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7147_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2383=]) c.7216_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7216_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2406=]) c.6844_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6844_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2282=]) c.7000_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7000_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2334=]) c.7207_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7207_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2403=]) c.6508_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6508_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2170=]) c.7255_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7255_248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2419=])
16	g.3727471_3727786delinsG	CA658798522	CREBBP	c.7261_247delinsC (n.[c.7261_247delinsC;Ser2421LeufsTer26]) c.7147_247delinsC (n.[c.7147_247delinsC;Ser2383LeufsTer26]) c.7216_247delinsC (n.[c.7216_247delinsC;Ser2406LeufsTer26]) c.6844_247delinsC (n.[c.6844_247delinsC;Ser2282LeufsTer26]) c.7000_247delinsC (n.[c.7000_247delinsC;Ser2334LeufsTer26]) c.7207_247delinsC (n.[c.7207_247delinsC;Ser2403LeufsTer26]) c.6508_247delinsC (n.[c.6508_247delinsC;Ser2170LeufsTer26]) c.7255_247delinsC (n.[c.7255_247delinsC;Ser2419LeufsTer26])	ClinVar dbSNP
16	g.3727633T>C	CA276970876	CREBBP	c.85A>G (n.85A>G)	dbSNP gnomAD v3 gnomAD v4
16	g.3727633T=	CA2202928254	CREBBP	c.85A= (n.85A=)
16	g.3727634A=	CA2202928255	CREBBP	c.84T= (n.84T=)
16	g.3727634A>C	CA2631401131	CREBBP	c.84T>G (n.84T>G)	gnomAD v4
16	g.3727634A>G	CA2202928256	CREBBP	c.84T>C (n.84T>C)	dbSNP
16	g.3727635G>A	CA720731936	CREBBP	c.83C>T (n.83C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.3727635G=	CA2202928257	CREBBP	c.83C= (n.83C=)
16	g.3727635G>T	CA2631401133	CREBBP	c.83C>A (n.83C>A)	gnomAD v4
16	g.3727636G>A	CA276970877	CREBBP	c.82C>T (n.82C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.3727636G>C	CA2202928259	CREBBP	c.82C>G (n.82C>G)	dbSNP
16	g.3727636G=	CA2202928258	CREBBP	c.82C= (n.82C=)
16	g.3727636G>T	CA2202928260	CREBBP	c.82C>A (n.82C>A)	dbSNP gnomAD v4
16	g.3727640A>G	CA2502419096	CREBBP	c.78T>C (n.78T>C)	gnomAD v4
16	g.3727642A=	CA2202928261	CREBBP	c.76T= (n.76T=)
16	g.3727642A>G	CA620714421	CREBBP	c.76T>C (n.76T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727644A>G	CA2631401135	CREBBP	c.74T>C (n.74T>C)	gnomAD v4
16	g.3727645G>C	CA2556492774	CREBBP	c.73C>G (n.73C>G)	gnomAD v4
16	g.3727646A=	CA2202928262	CREBBP	c.72T= (n.72T=)
16	g.3727646A>G	CA720731955	CREBBP	c.72T>C (n.72T>C)	dbSNP gnomAD v4
16	g.3727647A>G	CA2572992685	CREBBP	c.71T>C (n.71T>C)
16	g.3727648C=	CA2202928263	CREBBP	c.70G= (n.70G=)
16	g.3727648C>T	CA973914936	CREBBP	c.70G>A (n.70G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.3727649C=	CA2202928264	CREBBP	c.69G= (n.69G=)
16	g.3727649C>G	CA720731959	CREBBP	c.69G>C (n.69G>C)	dbSNP gnomAD v3 gnomAD v4
16	g.3727649C>T	CA2631401136	CREBBP	c.69G>A (n.69G>A)	gnomAD v4
16	g.3727650T>C	CA276970880	CREBBP	c.68A>G (n.68A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727650T=	CA2202928265	CREBBP	c.68A= (n.68A=)
16	g.3727651A>G	CA2631401137	CREBBP	c.67T>C (n.67T>C)	gnomAD v4
16	g.3727652G>A	CA2631401139	CREBBP	c.66C>T (n.66C>T)	dbSNP gnomAD v4
16	g.3727652G>C	CA973914938	CREBBP	c.66C>G (n.66C>G)	dbSNP gnomAD v3 gnomAD v4
16	g.3727652G=	CA2202928266	CREBBP	c.66C= (n.66C=)
16	g.3727653A=	CA2202928267	CREBBP	c.65T= (n.65T=)
16	g.3727653A>G	CA2202928268	CREBBP	c.65T>C (n.65T>C)	dbSNP gnomAD v4
16	g.3727654T>C	CA276970881	CREBBP	c.64A>G (n.64A>G)	dbSNP gnomAD v4
16	g.3727654T=	CA2202928269	CREBBP	c.64A= (n.64A=)
16	g.3727655G>A	CA620714422	CREBBP	c.63C>T (n.63C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727655G=	CA2202928270	CREBBP	c.63C= (n.63C=)
16	g.3727656C>A	CA2631401140	CREBBP	c.62G>T (n.62G>T)	gnomAD v4
16	g.3727658T>C	CA973914939	CREBBP	c.60A>G (n.60A>G)	dbSNP gnomAD v3 gnomAD v4
16	g.3727658T=	CA2202928271	CREBBP	c.60A= (n.60A=)
16	g.3727659G>A	CA2575893793	CREBBP	c.59C>T (n.59C>T)	gnomAD v4
16	g.3727660G>A	CA620714423	CREBBP	c.58C>T (n.58C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727660G>C	CA2631401143	CREBBP	c.58C>G (n.58C>G)	gnomAD v4
16	g.3727660G=	CA2202928272	CREBBP	c.58C= (n.58C=)
16	g.3727660G>T	CA2631401144	CREBBP	c.58C>A (n.58C>A)	gnomAD v4
16	g.3727661A>C	CA2575893794	CREBBP	c.57T>G (n.57T>G)
16	g.3727665dup	CA2631401146	CREBBP	c.56dup (n.56dup)	gnomAD v4
16	g.3727665del	CA2575893795	CREBBP	c.56del (n.56del)
16	g.3727663T>C	CA2631401147	CREBBP	c.55A>G (n.55A>G)	gnomAD v4
16	g.3727666C>T	CA2631401149	CREBBP	c.52G>A (n.52G>A)	gnomAD v4
16	g.3727668_3727672del	CA2631401148	CREBBP	c.48_52del (n.48_52del)	gnomAD v4
16	g.3727667A=	CA2202928273	CREBBP	c.51T= (n.51T=)
16	g.3727667A>C	CA7868894	CREBBP	c.51T>G (n.51T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727667A>G	CA620714424	CREBBP	c.51T>C (n.51T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.3727667A>T	CA2731579087	CREBBP	c.51T>A (n.51T>A)	dbSNP
16	g.3727668G>A	CA2731835530	CREBBP	c.50C>T (n.50C>T)	dbSNP
16	g.3727668G>C	CA2731835589	CREBBP	c.50C>G (n.50C>G)	dbSNP
16	g.3727669del	CA2631401152	CREBBP	c.49del (n.49del)	gnomAD v4
16	g.3727669T>A	CA2731835650	CREBBP	c.49A>T (n.49A>T)	dbSNP
16	g.3727669T>G	CA2731835593	CREBBP	c.49A>C (n.49A>C)	dbSNP
16	g.3727670A=	CA2202928274	CREBBP	c.48T= (n.48T=)
16	g.3727670A>C	CA7868895	CREBBP	c.48T>G (n.48T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727670A>T	CA2731577406	CREBBP	c.48T>A (n.48T>A)	dbSNP
16	g.3727671C=	CA2202928275	CREBBP	c.47G= (n.47G=)
16	g.3727671C>G	CA2631401153	CREBBP	c.47G>C (n.47G>C)	gnomAD v4
16	g.3727671C>T	CA2202928276	CREBBP	c.47G>A (n.47G>A)	dbSNP
16	g.3727672A>G	CA2575893796	CREBBP	c.46T>C (n.46T>C)	gnomAD v4
16	g.3727673A>G	CA2631401155	CREBBP	c.45T>C (n.45T>C)	gnomAD v4
16	g.3727673A>T	CA2731835651	CREBBP	c.45T>A (n.45T>A)	dbSNP
16	g.3727674A=	CA2202928277	CREBBP	c.44T= (n.44T=)
16	g.3727674A>G	CA620714425	CREBBP	c.44T>C (n.44T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.3727674A>T	CA2731600435	CREBBP	c.44T>A (n.44T>A)	dbSNP
16	g.3727675A=	CA2202928278	CREBBP	c.43T= (n.43T=)
16	g.3727675A>C	CA276970887	CREBBP	c.43T>G (n.43T>G)	dbSNP gnomAD v4
16	g.3727675A>G	CA2731583399	CREBBP	c.43T>C (n.43T>C)	dbSNP
16	g.3727675A>T	CA2731583400	CREBBP	c.43T>A (n.43T>A)	dbSNP
16	g.3727676G>A	CA276970888	CREBBP	c.42C>T (n.42C>T)	dbSNP
16	g.3727676G>C	CA7868896	CREBBP	c.42C>G (n.42C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727676G=	CA2202928279	CREBBP	c.42C= (n.42C=)
16	g.3727676G>T	CA2731577950	CREBBP	c.42C>A (n.42C>A)	dbSNP
16	g.3727677G>A	CA7868897	CREBBP	c.41C>T (n.41C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727677G>C	CA2731576812	CREBBP	c.41C>G (n.41C>G)	dbSNP
16	g.3727677G=	CA2202928280	CREBBP	c.41C= (n.41C=)
16	g.3727677G>T	CA2731576811	CREBBP	c.41C>A (n.41C>A)	dbSNP
16	g.3727678T>A	CA2731835663	CREBBP	c.40A>T (n.40A>T)	dbSNP
16	g.3727678T>C	CA2631401157	CREBBP	c.40A>G (n.40A>G)	dbSNP gnomAD v4
16	g.3727678T>G	CA2731835661	CREBBP	c.40A>C (n.40A>C)	dbSNP
16	g.3727679C>A	CA2202928281	CREBBP	c.39G>T (n.39G>T)	dbSNP
16	g.3727679C=	CA2202928282	CREBBP	c.39G= (n.39G=)
16	g.3727679C>G	CA2731646511	CREBBP	c.39G>C (n.39G>C)	dbSNP
16	g.3727679C>T	CA2575893797	CREBBP	c.39G>A (n.39G>A)	dbSNP
16	g.3727681A=	CA2202928283	CREBBP	c.37T= (n.37T=)
16	g.3727681A>G	CA2631401158	CREBBP	c.37T>C (n.37T>C)	gnomAD v4
16	g.3727681A>T	CA620714426	CREBBP	c.37T>A (n.37T>A)	dbSNP gnomAD v2
16	g.3727682A=	CA2202928284	CREBBP	c.36T= (n.36T=)
16	g.3727682A>G	CA7868898	CREBBP	c.36T>C (n.36T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727682A>T	CA2731577407	CREBBP	c.36T>A (n.36T>A)	dbSNP
16	g.3727683G>A	CA2202928286	CREBBP	c.35C>T (n.35C>T)	dbSNP gnomAD v4
16	g.3727683G>C	CA2731646514	CREBBP	c.35C>G (n.35C>G)	dbSNP
16	g.3727683G=	CA2202928285	CREBBP	c.35C= (n.35C=)
16	g.3727683G>T	CA2731646513	CREBBP	c.35C>A (n.35C>A)	dbSNP
16	g.3727684A>G	CA2805620967	CREBBP	c.34T>C (n.34T>C)
16	g.3727684A>T	CA2731835679	CREBBP	c.34T>A (n.34T>A)	dbSNP
16	g.3727685A>G	CA2631401159	CREBBP	c.33T>C (n.33T>C)	gnomAD v4
16	g.3727686C>A	CA2731573985	CREBBP	c.32G>T (n.32G>T)	dbSNP
16	g.3727686C=	CA2202928287	CREBBP	c.32G= (n.32G=)
16	g.3727686C>G	CA7868899	CREBBP	c.32G>C (n.32G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727686C>T	CA720731991	CREBBP	c.32G>A (n.32G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.3727688T>C	CA620714427	CREBBP	c.30A>G (n.30A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727688T=	CA2202928288	CREBBP	c.30A= (n.30A=)
16	g.3727689G>A	CA2575893798	CREBBP	c.29C>T (n.29C>T)	gnomAD v4
16	g.3727689G>T	CA2631401163	CREBBP	c.29C>A (n.29C>A)	gnomAD v4
16	g.3727689_3727691delinsGAA	CA2202928289	CREBBP	c.27_29delinsTTC (n.27_29delinsTTC)
16	g.3727690A=	CA2202928290	CREBBP	c.28T= (n.28T=)
16	g.3727690A>G	CA7868901	CREBBP	c.28T>C (n.28T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727690A>T	CA2731574865	CREBBP	c.28T>A (n.28T>A)	dbSNP
16	g.3727692dup	CA276970893	CREBBP	c.28dup (n.28dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727692del	CA7868900	CREBBP	c.28del (n.28del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727691_3727692del	CA2202928291	CREBBP	c.27_28del (n.27_28del)	dbSNP
16	g.3727691A=	CA2202928292	CREBBP	c.27T= (n.27T=)
16	g.3727691A>C	CA620714428	CREBBP	c.27T>G (n.27T>G)	dbSNP gnomAD v2
16	g.3727691A>G	CA2731599168	CREBBP	c.27T>C (n.27T>C)	dbSNP
16	g.3727692A=	CA2202928293	CREBBP	c.26T= (n.26T=)
16	g.3727692A>C	CA2631401164	CREBBP	c.26T>G (n.26T>G)	gnomAD v4
16	g.3727692A>G	CA7868903	CREBBP	c.26T>C (n.26T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727692A>T	CA2566595819	CREBBP	c.26T>A (n.26T>A)
16	g.3727693G>C	CA2575893799	CREBBP	c.25C>G (n.25C>G)	gnomAD v4
16	g.3727695dup	CA7868902	CREBBP	c.25dup (n.25dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727694G>A	CA2631401165	CREBBP	c.24C>T (n.24C>T)	gnomAD v4
16	g.3727695G>C	CA2575893800	CREBBP	c.23C>G (n.23C>G)	gnomAD v4
16	g.3727695_3727696delinsGA	CA2202928294	CREBBP	c.22_23delinsTC (n.22_23delinsTC)
16	g.3727695_3727696insGAAAAA	CA2805620974	CREBBP	c.22_23insTTTTTC (n.22_23insTTTTTC)
16	g.3727696A=	CA2202928295	CREBBP	c.22T= (n.22T=)
16	g.3727696A>C	CA2581245758	CREBBP	c.22T>G (n.22T>G)
16	g.3727696A>G	CA7868905	CREBBP	c.22T>C (n.22T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727696A>T	CA2581245759	CREBBP	c.22T>A (n.22T>A)	dbSNP gnomAD v4
16	g.3727699del	CA7868904	CREBBP	c.22del (n.22del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727698A>C	CA2631401166	CREBBP	c.20T>G (n.20T>G)	gnomAD v4
16	g.3727699A>C	CA2731835765	CREBBP	c.19T>G (n.19T>G)	dbSNP
16	g.3727699A>G	CA2731835705	CREBBP	c.19T>C (n.19T>C)	dbSNP
16	g.3727699A>T	CA2731835814	CREBBP	c.19T>A (n.19T>A)	dbSNP
16	g.3727700G>A	CA620714429	CREBBP	c.18C>T (n.18C>T)	dbSNP gnomAD v2 gnomAD v4
16	g.3727700G=	CA2202928296	CREBBP	c.18C= (n.18C=)
16	g.3727701G>A	CA2731646515	CREBBP	c.17C>T (n.17C>T)	dbSNP
16	g.3727701G>C	CA2202928298	CREBBP	c.17C>G (n.17C>G)	dbSNP
16	g.3727701G=	CA2202928297	CREBBP	c.17C= (n.17C=)
16	g.3727702T>A	CA2731576261	CREBBP	c.16A>T (n.16A>T)	dbSNP
16	g.3727702T>C	CA7868907	CREBBP	c.16A>G (n.16A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727702T>G	CA2731576260	CREBBP	c.16A>C (n.16A>C)	dbSNP
16	g.3727702T=	CA2202928299	CREBBP	c.16A= (n.16A=)
16	g.3727704_3727706dup	CA7868906	CREBBP	c.14_16dup (n.14_16dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727703G>A	CA2731836028	CREBBP	c.15C>T (n.15C>T)	dbSNP
16	g.3727703G>C	CA2731836029	CREBBP	c.15C>G (n.15C>G)	dbSNP
16	g.3727704A=	CA2202928300	CREBBP	c.14T= (n.14T=)
16	g.3727704A>G	CA973914943	CREBBP	c.14T>C (n.14T>C)	dbSNP gnomAD v3 gnomAD v4
16	g.3727705T>A	CA2731646517	CREBBP	c.13A>T (n.13A>T)	dbSNP
16	g.3727705T>C	CA2202928302	CREBBP	c.13A>G (n.13A>G)	dbSNP
16	g.3727705T>G	CA2731646519	CREBBP	c.13A>C (n.13A>C)	dbSNP
16	g.3727705T=	CA2202928301	CREBBP	c.13A= (n.13A=)
16	g.3727706G>A	CA7868908	CREBBP	c.12C>T (n.12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727706G=	CA2202928303	CREBBP	c.12C= (n.12C=)
16	g.3727707C>A	CA2631401167	CREBBP	c.11G>T (n.11G>T)	dbSNP gnomAD v4
16	g.3727707C=	CA2202928304	CREBBP	c.11G= (n.11G=)
16	g.3727707C>G	CA2731617665	CREBBP	c.11G>C (n.11G>C)	dbSNP
16	g.3727707C>T	CA720732021	CREBBP	c.11G>A (n.11G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.3727708T>A	CA2731579631	CREBBP	c.10A>T (n.10A>T)	dbSNP
16	g.3727708T>C	CA973914944	CREBBP	c.10A>G (n.10A>G)	dbSNP gnomAD v3 gnomAD v4
16	g.3727708T>G	CA7868909	CREBBP	c.10A>C (n.10A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727708T=	CA2202928305	CREBBP	c.10A= (n.10A=)
16	g.3727709C>A	CA2731836033	CREBBP	c.9G>T (n.9G>T)	dbSNP
16	g.3727709C>T	CA2631401168	CREBBP	c.9G>A (n.9G>A)	dbSNP gnomAD v4
16	g.3727710T>C	CA2631401169	CREBBP	c.8A>G (n.8A>G)	dbSNP gnomAD v4
16	g.3727711C>A	CA2731592670	CREBBP	c.7G>T (n.7G>T)	dbSNP
16	g.3727711C=	CA2202928306	CREBBP	c.7G= (n.7G=)
16	g.3727711C>G	CA2202928307	CREBBP	c.7G>C (n.7G>C)	dbSNP
16	g.3727711C>T	CA276970918	CREBBP	c.7G>A (n.7G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.3727713_3727714del	CA2575893801	CREBBP	c.6_7del (n.6_7del)	gnomAD v4
16	g.3727712A>G	CA2731836211	CREBBP	c.6T>C (n.6T>C)	dbSNP
16	g.3727712A>T	CA2731836082	CREBBP	c.6T>A (n.6T>A)	dbSNP
16	g.3727713C>A	CA2631401170	CREBBP	c.5G>T (n.5G>T)	dbSNP gnomAD v4
16	g.3727713C>G	CA2731836262	CREBBP	c.5G>C (n.5G>C)	dbSNP
16	g.3727713C>T	CA2731836214	CREBBP	c.5G>A (n.5G>A)	dbSNP
16	g.3727714A>G	CA2731836290	CREBBP	c.4T>C (n.4T>C)	dbSNP
16	g.3727714A>T	CA2731836306	CREBBP	c.4T>A (n.4T>A)	dbSNP
16	g.3727715A>G	CA2731836325	CREBBP	c.3T>C (n.3T>C)	dbSNP
16	g.3727715A>T	CA2731836340	CREBBP	c.3T>A (n.3T>A)	dbSNP
16	g.3727716T>A	CA2731836343	CREBBP	c.2A>T (n.2A>T)	dbSNP
16	g.3727717G>A	CA2731836409	CREBBP	c.1C>T (n.1C>T)	dbSNP
16	g.3727717G>C	CA2631401171	CREBBP	c.1C>G (n.1C>G)	dbSNP gnomAD v4
16	g.3727718C>A	CA394550051	CREBBP	c.7329G>T (p.Ter2443Tyr) c.7215G>T (p.Ter2405Tyr) c.7284G>T (p.Ter2428Tyr) c.6912G>T (p.Ter2304Tyr) c.7068G>T (p.Ter2356Tyr) c.7275G>T (p.Ter2425Tyr) c.6576G>T (p.Ter2192Tyr) c.7323G>T (p.Ter2441Tyr)	COSMIC
16	g.3727718C>G	CA394550052	CREBBP	c.7329G>C (p.Ter2443Tyr) c.7215G>C (p.Ter2405Tyr) c.7284G>C (p.Ter2428Tyr) c.6912G>C (p.Ter2304Tyr) c.7068G>C (p.Ter2356Tyr) c.7275G>C (p.Ter2425Tyr) c.6576G>C (p.Ter2192Tyr) c.7323G>C (p.Ter2441Tyr)	dbSNP
16	g.3727718C>T	CA493393007	CREBBP	c.7329G>A (p.Ter2443=) c.7215G>A (p.Ter2405=) c.7284G>A (p.Ter2428=) c.6912G>A (p.Ter2304=) c.7068G>A (p.Ter2356=) c.7275G>A (p.Ter2425=) c.6576G>A (p.Ter2192=) c.7323G>A (p.Ter2441=)	dbSNP
16	g.3727719T>A	CA394550053	CREBBP	c.7328A>T (p.Ter2443Leu) c.7214A>T (p.Ter2405Leu) c.7283A>T (p.Ter2428Leu) c.6911A>T (p.Ter2304Leu) c.7067A>T (p.Ter2356Leu) c.7274A>T (p.Ter2425Leu) c.6575A>T (p.Ter2192Leu) c.7322A>T (p.Ter2441Leu)	dbSNP
16	g.3727719T>C	CA394550054	CREBBP	c.7328A>G (p.Ter2443Trp) c.7214A>G (p.Ter2405Trp) c.7283A>G (p.Ter2428Trp) c.6911A>G (p.Ter2304Trp) c.7067A>G (p.Ter2356Trp) c.7274A>G (p.Ter2425Trp) c.6575A>G (p.Ter2192Trp) c.7322A>G (p.Ter2441Trp)	dbSNP
16	g.3727719T>G	CA394550055	CREBBP	c.7328A>C (p.Ter2443Ser) c.7214A>C (p.Ter2405Ser) c.7283A>C (p.Ter2428Ser) c.6911A>C (p.Ter2304Ser) c.7067A>C (p.Ter2356Ser) c.7274A>C (p.Ter2425Ser) c.6575A>C (p.Ter2192Ser) c.7322A>C (p.Ter2441Ser)
16	g.3727720A>C	CA394550056	CREBBP	c.7327T>G (p.Ter2443Glu) c.7213T>G (p.Ter2405Glu) c.7282T>G (p.Ter2428Glu) c.6910T>G (p.Ter2304Glu) c.7066T>G (p.Ter2356Glu) c.7273T>G (p.Ter2425Glu) c.6574T>G (p.Ter2192Glu) c.7321T>G (p.Ter2441Glu)
16	g.3727720A>G	CA394550057	CREBBP	c.7327T>C (p.Ter2443Gln) c.7213T>C (p.Ter2405Gln) c.7282T>C (p.Ter2428Gln) c.6910T>C (p.Ter2304Gln) c.7066T>C (p.Ter2356Gln) c.7273T>C (p.Ter2425Gln) c.6574T>C (p.Ter2192Gln) c.7321T>C (p.Ter2441Gln)
16	g.3727720A>T	CA394550058	CREBBP	c.7327T>A (p.Ter2443Lys) c.7213T>A (p.Ter2405Lys) c.7282T>A (p.Ter2428Lys) c.6910T>A (p.Ter2304Lys) c.7066T>A (p.Ter2356Lys) c.7273T>A (p.Ter2425Lys) c.6574T>A (p.Ter2192Lys) c.7321T>A (p.Ter2441Lys)	dbSNP
16	g.3727721C>A	CA394550059	CREBBP	c.7326G>T (p.Leu2442Phe) c.7212G>T (p.Leu2404Phe) c.7281G>T (p.Leu2427Phe) c.6909G>T (p.Leu2303Phe) c.7065G>T (p.Leu2355Phe) c.7272G>T (p.Leu2424Phe) c.6573G>T (p.Leu2191Phe) c.7320G>T (p.Leu2440Phe)
16	g.3727721C=	CA2202928308	CREBBP	c.7326G= (p.Leu2442=) c.7212G= (p.Leu2404=) c.7281G= (p.Leu2427=) c.6909G= (p.Leu2303=) c.7065G= (p.Leu2355=) c.7272G= (p.Leu2424=) c.6573G= (p.Leu2191=) c.7320G= (p.Leu2440=)
16	g.3727721C>G	CA394550060	CREBBP	c.7326G>C (p.Leu2442Phe) c.7212G>C (p.Leu2404Phe) c.7281G>C (p.Leu2427Phe) c.6909G>C (p.Leu2303Phe) c.7065G>C (p.Leu2355Phe) c.7272G>C (p.Leu2424Phe) c.6573G>C (p.Leu2191Phe) c.7320G>C (p.Leu2440Phe)
16	g.3727721C>T	CA7868910	CREBBP	c.7326G>A (p.Leu2442=) c.7212G>A (p.Leu2404=) c.7281G>A (p.Leu2427=) c.6909G>A (p.Leu2303=) c.7065G>A (p.Leu2355=) c.7272G>A (p.Leu2424=) c.6573G>A (p.Leu2191=) c.7320G>A (p.Leu2440=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727722A>C	CA394550061	CREBBP	c.7325T>G (p.Leu2442Trp) c.7211T>G (p.Leu2404Trp) c.7280T>G (p.Leu2427Trp) c.6908T>G (p.Leu2303Trp) c.7064T>G (p.Leu2355Trp) c.7271T>G (p.Leu2424Trp) c.6572T>G (p.Leu2191Trp) c.7319T>G (p.Leu2440Trp)
16	g.3727722A>G	CA394550062	CREBBP	c.7325T>C (p.Leu2442Ser) c.7211T>C (p.Leu2404Ser) c.7280T>C (p.Leu2427Ser) c.6908T>C (p.Leu2303Ser) c.7064T>C (p.Leu2355Ser) c.7271T>C (p.Leu2424Ser) c.6572T>C (p.Leu2191Ser) c.7319T>C (p.Leu2440Ser)	dbSNP gnomAD v4
16	g.3727722A>T	CA394550063	CREBBP	c.7325T>A (p.Leu2442Ter) c.7211T>A (p.Leu2404Ter) c.7280T>A (p.Leu2427Ter) c.6908T>A (p.Leu2303Ter) c.7064T>A (p.Leu2355Ter) c.7271T>A (p.Leu2424Ter) c.6572T>A (p.Leu2191Ter) c.7319T>A (p.Leu2440Ter)	dbSNP
16	g.3727723A=	CA2202928309	CREBBP	c.7324T= (p.Leu2442=) c.7210T= (p.Leu2404=) c.7279T= (p.Leu2427=) c.6907T= (p.Leu2303=) c.7063T= (p.Leu2355=) c.7270T= (p.Leu2424=) c.6571T= (p.Leu2191=) c.7318T= (p.Leu2440=)
16	g.3727723A>C	CA394550065	CREBBP	c.7324T>G (p.Leu2442Val) c.7210T>G (p.Leu2404Val) c.7279T>G (p.Leu2427Val) c.6907T>G (p.Leu2303Val) c.7063T>G (p.Leu2355Val) c.7270T>G (p.Leu2424Val) c.6571T>G (p.Leu2191Val) c.7318T>G (p.Leu2440Val)
16	g.3727723A>G	CA493393009	CREBBP	c.7324T>C (p.Leu2442=) c.7210T>C (p.Leu2404=) c.7279T>C (p.Leu2427=) c.6907T>C (p.Leu2303=) c.7063T>C (p.Leu2355=) c.7270T>C (p.Leu2424=) c.6571T>C (p.Leu2191=) c.7318T>C (p.Leu2440=)	dbSNP gnomAD v4
16	g.3727723A>T	CA394550064	CREBBP	c.7324T>A (p.Leu2442Met) c.7210T>A (p.Leu2404Met) c.7279T>A (p.Leu2427Met) c.6907T>A (p.Leu2303Met) c.7063T>A (p.Leu2355Met) c.7270T>A (p.Leu2424Met) c.6571T>A (p.Leu2191Met) c.7318T>A (p.Leu2440Met)	dbSNP
16	g.3727724G>A	CA276970924	CREBBP	c.7323C>T (p.Gly2441=) c.7209C>T (p.Gly2403=) c.7278C>T (p.Gly2426=) c.6906C>T (p.Gly2302=) c.7062C>T (p.Gly2354=) c.7269C>T (p.Gly2423=) c.6570C>T (p.Gly2190=) c.7317C>T (p.Gly2439=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.3727724G>C	CA493393011	CREBBP	c.7323C>G (p.Gly2441=) c.7209C>G (p.Gly2403=) c.7278C>G (p.Gly2426=) c.6906C>G (p.Gly2302=) c.7062C>G (p.Gly2354=) c.7269C>G (p.Gly2423=) c.6570C>G (p.Gly2190=) c.7317C>G (p.Gly2439=)	dbSNP
16	g.3727724G=	CA2202928310	CREBBP	c.7323C= (p.Gly2441=) c.7209C= (p.Gly2403=) c.7278C= (p.Gly2426=) c.6906C= (p.Gly2302=) c.7062C= (p.Gly2354=) c.7269C= (p.Gly2423=) c.6570C= (p.Gly2190=) c.7317C= (p.Gly2439=)
16	g.3727724G>T	CA493393010	CREBBP	c.7323C>A (p.Gly2441=) c.7209C>A (p.Gly2403=) c.7278C>A (p.Gly2426=) c.6906C>A (p.Gly2302=) c.7062C>A (p.Gly2354=) c.7269C>A (p.Gly2423=) c.6570C>A (p.Gly2190=) c.7317C>A (p.Gly2439=)
16	g.3727725C>A	CA394550066	CREBBP	c.7322G>T (p.Gly2441Val) c.7208G>T (p.Gly2403Val) c.7277G>T (p.Gly2426Val) c.6905G>T (p.Gly2302Val) c.7061G>T (p.Gly2354Val) c.7268G>T (p.Gly2423Val) c.6569G>T (p.Gly2190Val) c.7316G>T (p.Gly2439Val)	gnomAD v4
16	g.3727725C>G	CA394550067	CREBBP	c.7322G>C (p.Gly2441Ala) c.7208G>C (p.Gly2403Ala) c.7277G>C (p.Gly2426Ala) c.6905G>C (p.Gly2302Ala) c.7061G>C (p.Gly2354Ala) c.7268G>C (p.Gly2423Ala) c.6569G>C (p.Gly2190Ala) c.7316G>C (p.Gly2439Ala)
16	g.3727725C>T	CA394550068	CREBBP	c.7322G>A (p.Gly2441Asp) c.7208G>A (p.Gly2403Asp) c.7277G>A (p.Gly2426Asp) c.6905G>A (p.Gly2302Asp) c.7061G>A (p.Gly2354Asp) c.7268G>A (p.Gly2423Asp) c.6569G>A (p.Gly2190Asp) c.7316G>A (p.Gly2439Asp)	dbSNP
16	g.3727726C>A	CA394550069	CREBBP	c.7321G>T (p.Gly2441Cys) c.7207G>T (p.Gly2403Cys) c.7276G>T (p.Gly2426Cys) c.6904G>T (p.Gly2302Cys) c.7060G>T (p.Gly2354Cys) c.7267G>T (p.Gly2423Cys) c.6568G>T (p.Gly2190Cys) c.7315G>T (p.Gly2439Cys)	dbSNP
16	g.3727726C=	CA2202928311	CREBBP	c.7321G= (p.Gly2441=) c.7207G= (p.Gly2403=) c.7276G= (p.Gly2426=) c.6904G= (p.Gly2302=) c.7060G= (p.Gly2354=) c.7267G= (p.Gly2423=) c.6568G= (p.Gly2190=) c.7315G= (p.Gly2439=)
16	g.3727726C>G	CA394550070	CREBBP	c.7321G>C (p.Gly2441Arg) c.7207G>C (p.Gly2403Arg) c.7276G>C (p.Gly2426Arg) c.6904G>C (p.Gly2302Arg) c.7060G>C (p.Gly2354Arg) c.7267G>C (p.Gly2423Arg) c.6568G>C (p.Gly2190Arg) c.7315G>C (p.Gly2439Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727726C>T	CA394550071	CREBBP	c.7321G>A (p.Gly2441Ser) c.7207G>A (p.Gly2403Ser) c.7276G>A (p.Gly2426Ser) c.6904G>A (p.Gly2302Ser) c.7060G>A (p.Gly2354Ser) c.7267G>A (p.Gly2423Ser) c.6568G>A (p.Gly2190Ser) c.7315G>A (p.Gly2439Ser)	dbSNP gnomAD v4
16	g.3727727C>A	CA394550072	CREBBP	c.7320G>T (p.Glu2440Asp) c.7206G>T (p.Glu2402Asp) c.7275G>T (p.Glu2425Asp) c.6903G>T (p.Glu2301Asp) c.7059G>T (p.Glu2353Asp) c.7266G>T (p.Glu2422Asp) c.6567G>T (p.Glu2189Asp) c.7314G>T (p.Glu2438Asp)	dbSNP
16	g.3727727C=	CA2202928312	CREBBP	c.7320G= (p.Glu2440=) c.7206G= (p.Glu2402=) c.7275G= (p.Glu2425=) c.6903G= (p.Glu2301=) c.7059G= (p.Glu2353=) c.7266G= (p.Glu2422=) c.6567G= (p.Glu2189=) c.7314G= (p.Glu2438=)
16	g.3727727C>G	CA394550073	CREBBP	c.7320G>C (p.Glu2440Asp) c.7206G>C (p.Glu2402Asp) c.7275G>C (p.Glu2425Asp) c.6903G>C (p.Glu2301Asp) c.7059G>C (p.Glu2353Asp) c.7266G>C (p.Glu2422Asp) c.6567G>C (p.Glu2189Asp) c.7314G>C (p.Glu2438Asp)
16	g.3727727C>T	CA493393016	CREBBP	c.7320G>A (p.Glu2440=) c.7206G>A (p.Glu2402=) c.7275G>A (p.Glu2425=) c.6903G>A (p.Glu2301=) c.7059G>A (p.Glu2353=) c.7266G>A (p.Glu2422=) c.6567G>A (p.Glu2189=) c.7314G>A (p.Glu2438=)	dbSNP gnomAD v4
16	g.3727728T>A	CA394550074	CREBBP	c.7319A>T (p.Glu2440Val) c.7205A>T (p.Glu2402Val) c.7274A>T (p.Glu2425Val) c.6902A>T (p.Glu2301Val) c.7058A>T (p.Glu2353Val) c.7265A>T (p.Glu2422Val) c.6566A>T (p.Glu2189Val) c.7313A>T (p.Glu2438Val)	dbSNP
16	g.3727728T>C	CA394550075	CREBBP	c.7319A>G (p.Glu2440Gly) c.7205A>G (p.Glu2402Gly) c.7274A>G (p.Glu2425Gly) c.6902A>G (p.Glu2301Gly) c.7058A>G (p.Glu2353Gly) c.7265A>G (p.Glu2422Gly) c.6566A>G (p.Glu2189Gly) c.7313A>G (p.Glu2438Gly)	dbSNP
16	g.3727728T>G	CA394550076	CREBBP	c.7319A>C (p.Glu2440Ala) c.7205A>C (p.Glu2402Ala) c.7274A>C (p.Glu2425Ala) c.6902A>C (p.Glu2301Ala) c.7058A>C (p.Glu2353Ala) c.7265A>C (p.Glu2422Ala) c.6566A>C (p.Glu2189Ala) c.7313A>C (p.Glu2438Ala)
16	g.3727729C>A	CA394550078	CREBBP	c.7318G>T (p.Glu2440Ter) c.7204G>T (p.Glu2402Ter) c.7273G>T (p.Glu2425Ter) c.6901G>T (p.Glu2301Ter) c.7057G>T (p.Glu2353Ter) c.7264G>T (p.Glu2422Ter) c.6565G>T (p.Glu2189Ter) c.7312G>T (p.Glu2438Ter)
16	g.3727729C=	CA2202928313	CREBBP	c.7318G= (p.Glu2440=) c.7204G= (p.Glu2402=) c.7273G= (p.Glu2425=) c.6901G= (p.Glu2301=) c.7057G= (p.Glu2353=) c.7264G= (p.Glu2422=) c.6565G= (p.Glu2189=) c.7312G= (p.Glu2438=)
16	g.3727729C>G	CA394550077	CREBBP	c.7318G>C (p.Glu2440Gln) c.7204G>C (p.Glu2402Gln) c.7273G>C (p.Glu2425Gln) c.6901G>C (p.Glu2301Gln) c.7057G>C (p.Glu2353Gln) c.7264G>C (p.Glu2422Gln) c.6565G>C (p.Glu2189Gln) c.7312G>C (p.Glu2438Gln)
16	g.3727729C>T	CA276970927	CREBBP	c.7318G>A (p.Glu2440Lys) c.7204G>A (p.Glu2402Lys) c.7273G>A (p.Glu2425Lys) c.6901G>A (p.Glu2301Lys) c.7057G>A (p.Glu2353Lys) c.7264G>A (p.Glu2422Lys) c.6565G>A (p.Glu2189Lys) c.7312G>A (p.Glu2438Lys)	dbSNP COSMIC
16	g.3727730C>A	CA493393017	CREBBP	c.7317G>T (p.Val2439=) c.7203G>T (p.Val2401=) c.7272G>T (p.Val2424=) c.6900G>T (p.Val2300=) c.7056G>T (p.Val2352=) c.7263G>T (p.Val2421=) c.6564G>T (p.Val2188=) c.7311G>T (p.Val2437=)	dbSNP
16	g.3727730C=	CA2202928314	CREBBP	c.7317G= (p.Val2439=) c.7203G= (p.Val2401=) c.7272G= (p.Val2424=) c.6900G= (p.Val2300=) c.7056G= (p.Val2352=) c.7263G= (p.Val2421=) c.6564G= (p.Val2188=) c.7311G= (p.Val2437=)
16	g.3727730C>G	CA493393018	CREBBP	c.7317G>C (p.Val2439=) c.7203G>C (p.Val2401=) c.7272G>C (p.Val2424=) c.6900G>C (p.Val2300=) c.7056G>C (p.Val2352=) c.7263G>C (p.Val2421=) c.6564G>C (p.Val2188=) c.7311G>C (p.Val2437=)
16	g.3727730C>T	CA7868911	CREBBP	c.7317G>A (p.Val2439=) c.7203G>A (p.Val2401=) c.7272G>A (p.Val2424=) c.6900G>A (p.Val2300=) c.7056G>A (p.Val2352=) c.7263G>A (p.Val2421=) c.6564G>A (p.Val2188=) c.7311G>A (p.Val2437=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727731A>C	CA394550079	CREBBP	c.7316T>G (p.Val2439Gly) c.7202T>G (p.Val2401Gly) c.7271T>G (p.Val2424Gly) c.6899T>G (p.Val2300Gly) c.7055T>G (p.Val2352Gly) c.7262T>G (p.Val2421Gly) c.6563T>G (p.Val2188Gly) c.7310T>G (p.Val2437Gly)
16	g.3727731A>G	CA394550080	CREBBP	c.7316T>C (p.Val2439Ala) c.7202T>C (p.Val2401Ala) c.7271T>C (p.Val2424Ala) c.6899T>C (p.Val2300Ala) c.7055T>C (p.Val2352Ala) c.7262T>C (p.Val2421Ala) c.6563T>C (p.Val2188Ala) c.7310T>C (p.Val2437Ala)
16	g.3727731A>T	CA394550081	CREBBP	c.7316T>A (p.Val2439Glu) c.7202T>A (p.Val2401Glu) c.7271T>A (p.Val2424Glu) c.6899T>A (p.Val2300Glu) c.7055T>A (p.Val2352Glu) c.7262T>A (p.Val2421Glu) c.6563T>A (p.Val2188Glu) c.7310T>A (p.Val2437Glu)
16	g.3727732C>A	CA394550082	CREBBP	c.7315G>T (p.Val2439Leu) c.7201G>T (p.Val2401Leu) c.7270G>T (p.Val2424Leu) c.6898G>T (p.Val2300Leu) c.7054G>T (p.Val2352Leu) c.7261G>T (p.Val2421Leu) c.6562G>T (p.Val2188Leu) c.7309G>T (p.Val2437Leu)	gnomAD v4
16	g.3727732C>G	CA394550083	CREBBP	c.7315G>C (p.Val2439Leu) c.7201G>C (p.Val2401Leu) c.7270G>C (p.Val2424Leu) c.6898G>C (p.Val2300Leu) c.7054G>C (p.Val2352Leu) c.7261G>C (p.Val2421Leu) c.6562G>C (p.Val2188Leu) c.7309G>C (p.Val2437Leu)
16	g.3727732C>T	CA394550084	CREBBP	c.7315G>A (p.Val2439Met) c.7201G>A (p.Val2401Met) c.7270G>A (p.Val2424Met) c.6898G>A (p.Val2300Met) c.7054G>A (p.Val2352Met) c.7261G>A (p.Val2421Met) c.6562G>A (p.Val2188Met) c.7309G>A (p.Val2437Met)	dbSNP
16	g.3727733A=	CA2202928315	CREBBP	c.7314T= (p.Phe2438=) c.7200T= (p.Phe2400=) c.7269T= (p.Phe2423=) c.6897T= (p.Phe2299=) c.7053T= (p.Phe2351=) c.7260T= (p.Phe2420=) c.6561T= (p.Phe2187=) c.7308T= (p.Phe2436=)
16	g.3727733A>C	CA394550085	CREBBP	c.7314T>G (p.Phe2438Leu) c.7200T>G (p.Phe2400Leu) c.7269T>G (p.Phe2423Leu) c.6897T>G (p.Phe2299Leu) c.7053T>G (p.Phe2351Leu) c.7260T>G (p.Phe2420Leu) c.6561T>G (p.Phe2187Leu) c.7308T>G (p.Phe2436Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727733A>G	CA493393021	CREBBP	c.7314T>C (p.Phe2438=) c.7200T>C (p.Phe2400=) c.7269T>C (p.Phe2423=) c.6897T>C (p.Phe2299=) c.7053T>C (p.Phe2351=) c.7260T>C (p.Phe2420=) c.6561T>C (p.Phe2187=) c.7308T>C (p.Phe2436=)	ClinVar
16	g.3727733A>T	CA394550086	CREBBP	c.7314T>A (p.Phe2438Leu) c.7200T>A (p.Phe2400Leu) c.7269T>A (p.Phe2423Leu) c.6897T>A (p.Phe2299Leu) c.7053T>A (p.Phe2351Leu) c.7260T>A (p.Phe2420Leu) c.6561T>A (p.Phe2187Leu) c.7308T>A (p.Phe2436Leu)	dbSNP

Number of alleles fetched