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.3727766_3727769delinsGACC	CA2202928328	CREBBP	c.7278_7281delinsGGTC (p.Leu2426=) c.7164_7167delinsGGTC (p.Leu2388=) c.7233_7236delinsGGTC (p.Leu2411=) c.6861_6864delinsGGTC (p.Leu2287=) c.7017_7020delinsGGTC (p.Leu2339=) c.7224_7227delinsGGTC (p.Leu2408=) c.6525_6528delinsGGTC (p.Leu2175=) c.7272_7275delinsGGTC (p.Leu2424=)
16	g.3727767A>C	CA394550155	CREBBP	c.7280T>G (p.Val2427Gly) c.7166T>G (p.Val2389Gly) c.7235T>G (p.Val2412Gly) c.6863T>G (p.Val2288Gly) c.7019T>G (p.Val2340Gly) c.7226T>G (p.Val2409Gly) c.6527T>G (p.Val2176Gly) c.7274T>G (p.Val2425Gly)	dbSNP
16	g.3727767A>G	CA394550156	CREBBP	c.7280T>C (p.Val2427Ala) c.7166T>C (p.Val2389Ala) c.7235T>C (p.Val2412Ala) c.6863T>C (p.Val2288Ala) c.7019T>C (p.Val2340Ala) c.7226T>C (p.Val2409Ala) c.6527T>C (p.Val2176Ala) c.7274T>C (p.Val2425Ala)
16	g.3727767A>T	CA394550157	CREBBP	c.7280T>A (p.Val2427Asp) c.7166T>A (p.Val2389Asp) c.7235T>A (p.Val2412Asp) c.6863T>A (p.Val2288Asp) c.7019T>A (p.Val2340Asp) c.7226T>A (p.Val2409Asp) c.6527T>A (p.Val2176Asp) c.7274T>A (p.Val2425Asp)	dbSNP
16	g.3727768_3727770del	CA620714430	CREBBP	c.7278_7280del (p.Val2427del) c.7164_7166del (p.Val2389del) c.7233_7235del (p.Val2412del) c.6861_6863del (p.Val2288del) c.7017_7019del (p.Val2340del) c.7224_7226del (p.Val2409del) c.6525_6527del (p.Val2176del) c.7272_7274del (p.Val2425del)	dbSNP gnomAD v2 gnomAD v4
16	g.3727768C>A	CA394550158	CREBBP	c.7279G>T (p.Val2427Phe) c.7165G>T (p.Val2389Phe) c.7234G>T (p.Val2412Phe) c.6862G>T (p.Val2288Phe) c.7018G>T (p.Val2340Phe) c.7225G>T (p.Val2409Phe) c.6526G>T (p.Val2176Phe) c.7273G>T (p.Val2425Phe)
16	g.3727768C=	CA2202928329	CREBBP	c.7279G= (p.Val2427=) c.7165G= (p.Val2389=) c.7234G= (p.Val2412=) c.6862G= (p.Val2288=) c.7018G= (p.Val2340=) c.7225G= (p.Val2409=) c.6526G= (p.Val2176=) c.7273G= (p.Val2425=)
16	g.3727768C>G	CA394550159	CREBBP	c.7279G>C (p.Val2427Leu) c.7165G>C (p.Val2389Leu) c.7234G>C (p.Val2412Leu) c.6862G>C (p.Val2288Leu) c.7018G>C (p.Val2340Leu) c.7225G>C (p.Val2409Leu) c.6526G>C (p.Val2176Leu) c.7273G>C (p.Val2425Leu)	dbSNP
16	g.3727768C>T	CA394550160	CREBBP	c.7279G>A (p.Val2427Ile) c.7165G>A (p.Val2389Ile) c.7234G>A (p.Val2412Ile) c.6862G>A (p.Val2288Ile) c.7018G>A (p.Val2340Ile) c.7225G>A (p.Val2409Ile) c.6526G>A (p.Val2176Ile) c.7273G>A (p.Val2425Ile)	dbSNP gnomAD v3 gnomAD v4
16	g.3727769C>A	CA493393087	CREBBP	c.7278G>T (p.Leu2426=) c.7164G>T (p.Leu2388=) c.7233G>T (p.Leu2411=) c.6861G>T (p.Leu2287=) c.7017G>T (p.Leu2339=) c.7224G>T (p.Leu2408=) c.6525G>T (p.Leu2175=) c.7272G>T (p.Leu2424=)
16	g.3727769C>G	CA493393088	CREBBP	c.7278G>C (p.Leu2426=) c.7164G>C (p.Leu2388=) c.7233G>C (p.Leu2411=) c.6861G>C (p.Leu2287=) c.7017G>C (p.Leu2339=) c.7224G>C (p.Leu2408=) c.6525G>C (p.Leu2175=) c.7272G>C (p.Leu2424=)
16	g.3727769C>T	CA493393089	CREBBP	c.7278G>A (p.Leu2426=) c.7164G>A (p.Leu2388=) c.7233G>A (p.Leu2411=) c.6861G>A (p.Leu2287=) c.7017G>A (p.Leu2339=) c.7224G>A (p.Leu2408=) c.6525G>A (p.Leu2175=) c.7272G>A (p.Leu2424=)	dbSNP
16	g.3727770A=	CA2202928330	CREBBP	c.7277T= (p.Leu2426=) c.7163T= (p.Leu2388=) c.7232T= (p.Leu2411=) c.6860T= (p.Leu2287=) c.7016T= (p.Leu2339=) c.7223T= (p.Leu2408=) c.6524T= (p.Leu2175=) c.7271T= (p.Leu2424=)
16	g.3727770A>C	CA394550162	CREBBP	c.7277T>G (p.Leu2426Arg) c.7163T>G (p.Leu2388Arg) c.7232T>G (p.Leu2411Arg) c.6860T>G (p.Leu2287Arg) c.7016T>G (p.Leu2339Arg) c.7223T>G (p.Leu2408Arg) c.6524T>G (p.Leu2175Arg) c.7271T>G (p.Leu2424Arg)
16	g.3727770A>G	CA394550161	CREBBP	c.7277T>C (p.Leu2426Pro) c.7163T>C (p.Leu2388Pro) c.7232T>C (p.Leu2411Pro) c.6860T>C (p.Leu2287Pro) c.7016T>C (p.Leu2339Pro) c.7223T>C (p.Leu2408Pro) c.6524T>C (p.Leu2175Pro) c.7271T>C (p.Leu2424Pro)	dbSNP
16	g.3727770A>T	CA7868919	CREBBP	c.7277T>A (p.Leu2426Gln) c.7163T>A (p.Leu2388Gln) c.7232T>A (p.Leu2411Gln) c.6860T>A (p.Leu2287Gln) c.7016T>A (p.Leu2339Gln) c.7223T>A (p.Leu2408Gln) c.6524T>A (p.Leu2175Gln) c.7271T>A (p.Leu2424Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727771G>A	CA493393093	CREBBP	c.7276C>T (p.Leu2426=) c.7162C>T (p.Leu2388=) c.7231C>T (p.Leu2411=) c.6859C>T (p.Leu2287=) c.7015C>T (p.Leu2339=) c.7222C>T (p.Leu2408=) c.6523C>T (p.Leu2175=) c.7270C>T (p.Leu2424=)	dbSNP
16	g.3727771G>C	CA394550163	CREBBP	c.7276C>G (p.Leu2426Val) c.7162C>G (p.Leu2388Val) c.7231C>G (p.Leu2411Val) c.6859C>G (p.Leu2287Val) c.7015C>G (p.Leu2339Val) c.7222C>G (p.Leu2408Val) c.6523C>G (p.Leu2175Val) c.7270C>G (p.Leu2424Val)	gnomAD v4
16	g.3727771G>T	CA394550164	CREBBP	c.7276C>A (p.Leu2426Met) c.7162C>A (p.Leu2388Met) c.7231C>A (p.Leu2411Met) c.6859C>A (p.Leu2287Met) c.7015C>A (p.Leu2339Met) c.7222C>A (p.Leu2408Met) c.6523C>A (p.Leu2175Met) c.7270C>A (p.Leu2424Met)	dbSNP
16	g.3727772G>A	CA493393094	CREBBP	c.7275C>T (p.Ser2425=) c.7161C>T (p.Ser2387=) c.7230C>T (p.Ser2410=) c.6858C>T (p.Ser2286=) c.7014C>T (p.Ser2338=) c.7221C>T (p.Ser2407=) c.6522C>T (p.Ser2174=) c.7269C>T (p.Ser2423=)	dbSNP gnomAD v4
16	g.3727772G>C	CA7868920	CREBBP	c.7275C>G (p.Ser2425=) c.7161C>G (p.Ser2387=) c.7230C>G (p.Ser2410=) c.6858C>G (p.Ser2286=) c.7014C>G (p.Ser2338=) c.7221C>G (p.Ser2407=) c.6522C>G (p.Ser2174=) c.7269C>G (p.Ser2423=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727772G=	CA2202928331	CREBBP	c.7275C= (p.Ser2425=) c.7161C= (p.Ser2387=) c.7230C= (p.Ser2410=) c.6858C= (p.Ser2286=) c.7014C= (p.Ser2338=) c.7221C= (p.Ser2407=) c.6522C= (p.Ser2174=) c.7269C= (p.Ser2423=)
16	g.3727772G>T	CA493393096	CREBBP	c.7275C>A (p.Ser2425=) c.7161C>A (p.Ser2387=) c.7230C>A (p.Ser2410=) c.6858C>A (p.Ser2286=) c.7014C>A (p.Ser2338=) c.7221C>A (p.Ser2407=) c.6522C>A (p.Ser2174=) c.7269C>A (p.Ser2423=)	dbSNP
16	g.3727773G>A	CA394550165	CREBBP	c.7274C>T (p.Ser2425Phe) c.7160C>T (p.Ser2387Phe) c.7229C>T (p.Ser2410Phe) c.6857C>T (p.Ser2286Phe) c.7013C>T (p.Ser2338Phe) c.7220C>T (p.Ser2407Phe) c.6521C>T (p.Ser2174Phe) c.7268C>T (p.Ser2423Phe)	dbSNP gnomAD v2 gnomAD v4
16	g.3727773G>C	CA7868921	CREBBP	c.7274C>G (p.Ser2425Cys) c.7160C>G (p.Ser2387Cys) c.7229C>G (p.Ser2410Cys) c.6857C>G (p.Ser2286Cys) c.7013C>G (p.Ser2338Cys) c.7220C>G (p.Ser2407Cys) c.6521C>G (p.Ser2174Cys) c.7268C>G (p.Ser2423Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727773G=	CA2202928332	CREBBP	c.7274C= (p.Ser2425=) c.7160C= (p.Ser2387=) c.7229C= (p.Ser2410=) c.6857C= (p.Ser2286=) c.7013C= (p.Ser2338=) c.7220C= (p.Ser2407=) c.6521C= (p.Ser2174=) c.7268C= (p.Ser2423=)
16	g.3727773G>T	CA394550166	CREBBP	c.7274C>A (p.Ser2425Tyr) c.7160C>A (p.Ser2387Tyr) c.7229C>A (p.Ser2410Tyr) c.6857C>A (p.Ser2286Tyr) c.7013C>A (p.Ser2338Tyr) c.7220C>A (p.Ser2407Tyr) c.6521C>A (p.Ser2174Tyr) c.7268C>A (p.Ser2423Tyr)
16	g.3727774A>C	CA394550167	CREBBP	c.7273T>G (p.Ser2425Ala) c.7159T>G (p.Ser2387Ala) c.7228T>G (p.Ser2410Ala) c.6856T>G (p.Ser2286Ala) c.7012T>G (p.Ser2338Ala) c.7219T>G (p.Ser2407Ala) c.6520T>G (p.Ser2174Ala) c.7267T>G (p.Ser2423Ala)	dbSNP
16	g.3727774A>G	CA394550168	CREBBP	c.7273T>C (p.Ser2425Pro) c.7159T>C (p.Ser2387Pro) c.7228T>C (p.Ser2410Pro) c.6856T>C (p.Ser2286Pro) c.7012T>C (p.Ser2338Pro) c.7219T>C (p.Ser2407Pro) c.6520T>C (p.Ser2174Pro) c.7267T>C (p.Ser2423Pro)	dbSNP
16	g.3727774A>T	CA394550169	CREBBP	c.7273T>A (p.Ser2425Thr) c.7159T>A (p.Ser2387Thr) c.7228T>A (p.Ser2410Thr) c.6856T>A (p.Ser2286Thr) c.7012T>A (p.Ser2338Thr) c.7219T>A (p.Ser2407Thr) c.6520T>A (p.Ser2174Thr) c.7267T>A (p.Ser2423Thr)	dbSNP
16	g.3727775C>A	CA7868922	CREBBP	c.7272G>T (p.Leu2424=) c.7158G>T (p.Leu2386=) c.7227G>T (p.Leu2409=) c.6855G>T (p.Leu2285=) c.7011G>T (p.Leu2337=) c.7218G>T (p.Leu2406=) c.6519G>T (p.Leu2173=) c.7266G>T (p.Leu2422=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727775C=	CA2202928333	CREBBP	c.7272G= (p.Leu2424=) c.7158G= (p.Leu2386=) c.7227G= (p.Leu2409=) c.6855G= (p.Leu2285=) c.7011G= (p.Leu2337=) c.7218G= (p.Leu2406=) c.6519G= (p.Leu2173=) c.7266G= (p.Leu2422=)
16	g.3727775C>G	CA493393101	CREBBP	c.7272G>C (p.Leu2424=) c.7158G>C (p.Leu2386=) c.7227G>C (p.Leu2409=) c.6855G>C (p.Leu2285=) c.7011G>C (p.Leu2337=) c.7218G>C (p.Leu2406=) c.6519G>C (p.Leu2173=) c.7266G>C (p.Leu2422=)	dbSNP
16	g.3727775C>T	CA493393102	CREBBP	c.7272G>A (p.Leu2424=) c.7158G>A (p.Leu2386=) c.7227G>A (p.Leu2409=) c.6855G>A (p.Leu2285=) c.7011G>A (p.Leu2337=) c.7218G>A (p.Leu2406=) c.6519G>A (p.Leu2173=) c.7266G>A (p.Leu2422=)	dbSNP
16	g.3727776A>C	CA394550170	CREBBP	c.7271T>G (p.Leu2424Arg) c.7157T>G (p.Leu2386Arg) c.7226T>G (p.Leu2409Arg) c.6854T>G (p.Leu2285Arg) c.7010T>G (p.Leu2337Arg) c.7217T>G (p.Leu2406Arg) c.6518T>G (p.Leu2173Arg) c.7265T>G (p.Leu2422Arg)
16	g.3727776A>G	CA394550171	CREBBP	c.7271T>C (p.Leu2424Pro) c.7157T>C (p.Leu2386Pro) c.7226T>C (p.Leu2409Pro) c.6854T>C (p.Leu2285Pro) c.7010T>C (p.Leu2337Pro) c.7217T>C (p.Leu2406Pro) c.6518T>C (p.Leu2173Pro) c.7265T>C (p.Leu2422Pro)	dbSNP
16	g.3727776A>T	CA394550172	CREBBP	c.7271T>A (p.Leu2424Gln) c.7157T>A (p.Leu2386Gln) c.7226T>A (p.Leu2409Gln) c.6854T>A (p.Leu2285Gln) c.7010T>A (p.Leu2337Gln) c.7217T>A (p.Leu2406Gln) c.6518T>A (p.Leu2173Gln) c.7265T>A (p.Leu2422Gln)	dbSNP
16	g.3727777G>A	CA493393103	CREBBP	c.7270C>T (p.Leu2424=) c.7156C>T (p.Leu2386=) c.7225C>T (p.Leu2409=) c.6853C>T (p.Leu2285=) c.7009C>T (p.Leu2337=) c.7216C>T (p.Leu2406=) c.6517C>T (p.Leu2173=) c.7264C>T (p.Leu2422=)	dbSNP
16	g.3727777G>C	CA394550173	CREBBP	c.7270C>G (p.Leu2424Val) c.7156C>G (p.Leu2386Val) c.7225C>G (p.Leu2409Val) c.6853C>G (p.Leu2285Val) c.7009C>G (p.Leu2337Val) c.7216C>G (p.Leu2406Val) c.6517C>G (p.Leu2173Val) c.7264C>G (p.Leu2422Val)	dbSNP
16	g.3727777G>T	CA394550174	CREBBP	c.7270C>A (p.Leu2424Met) c.7156C>A (p.Leu2386Met) c.7225C>A (p.Leu2409Met) c.6853C>A (p.Leu2285Met) c.7009C>A (p.Leu2337Met) c.7216C>A (p.Leu2406Met) c.6517C>A (p.Leu2173Met) c.7264C>A (p.Leu2422Met)
16	g.3727778T>A	CA394550175	CREBBP	c.7269A>T (p.Glu2423Asp) c.7155A>T (p.Glu2385Asp) c.7224A>T (p.Glu2408Asp) c.6852A>T (p.Glu2284Asp) c.7008A>T (p.Glu2336Asp) c.7215A>T (p.Glu2405Asp) c.6516A>T (p.Glu2172Asp) c.7263A>T (p.Glu2421Asp)	dbSNP
16	g.3727778T>C	CA493393104	CREBBP	c.7269A>G (p.Glu2423=) c.7155A>G (p.Glu2385=) c.7224A>G (p.Glu2408=) c.6852A>G (p.Glu2284=) c.7008A>G (p.Glu2336=) c.7215A>G (p.Glu2405=) c.6516A>G (p.Glu2172=) c.7263A>G (p.Glu2421=)	dbSNP gnomAD v4
16	g.3727778T>G	CA394550176	CREBBP	c.7269A>C (p.Glu2423Asp) c.7155A>C (p.Glu2385Asp) c.7224A>C (p.Glu2408Asp) c.6852A>C (p.Glu2284Asp) c.7008A>C (p.Glu2336Asp) c.7215A>C (p.Glu2405Asp) c.6516A>C (p.Glu2172Asp) c.7263A>C (p.Glu2421Asp)	dbSNP gnomAD v4
16	g.3727778T=	CA2202928334	CREBBP	c.7269A= (p.Glu2423=) c.7155A= (p.Glu2385=) c.7224A= (p.Glu2408=) c.6852A= (p.Glu2284=) c.7008A= (p.Glu2336=) c.7215A= (p.Glu2405=) c.6516A= (p.Glu2172=) c.7263A= (p.Glu2421=)
16	g.3727779T>A	CA394550177	CREBBP	c.7268A>T (p.Glu2423Val) c.7154A>T (p.Glu2385Val) c.7223A>T (p.Glu2408Val) c.6851A>T (p.Glu2284Val) c.7007A>T (p.Glu2336Val) c.7214A>T (p.Glu2405Val) c.6515A>T (p.Glu2172Val) c.7262A>T (p.Glu2421Val)	dbSNP
16	g.3727779T>C	CA394550178	CREBBP	c.7268A>G (p.Glu2423Gly) c.7154A>G (p.Glu2385Gly) c.7223A>G (p.Glu2408Gly) c.6851A>G (p.Glu2284Gly) c.7007A>G (p.Glu2336Gly) c.7214A>G (p.Glu2405Gly) c.6515A>G (p.Glu2172Gly) c.7262A>G (p.Glu2421Gly)	dbSNP
16	g.3727779T>G	CA394550179	CREBBP	c.7268A>C (p.Glu2423Ala) c.7154A>C (p.Glu2385Ala) c.7223A>C (p.Glu2408Ala) c.6851A>C (p.Glu2284Ala) c.7007A>C (p.Glu2336Ala) c.7214A>C (p.Glu2405Ala) c.6515A>C (p.Glu2172Ala) c.7262A>C (p.Glu2421Ala)	dbSNP
16	g.3727780C>A	CA394550180	CREBBP	c.7267G>T (p.Glu2423Ter) c.7153G>T (p.Glu2385Ter) c.7222G>T (p.Glu2408Ter) c.6850G>T (p.Glu2284Ter) c.7006G>T (p.Glu2336Ter) c.7213G>T (p.Glu2405Ter) c.6514G>T (p.Glu2172Ter) c.7261G>T (p.Glu2421Ter)	dbSNP
16	g.3727780C=	CA2202928335	CREBBP	c.7267G= (p.Glu2423=) c.7153G= (p.Glu2385=) c.7222G= (p.Glu2408=) c.6850G= (p.Glu2284=) c.7006G= (p.Glu2336=) c.7213G= (p.Glu2405=) c.6514G= (p.Glu2172=) c.7261G= (p.Glu2421=)
16	g.3727780C>G	CA7868923	CREBBP	c.7267G>C (p.Glu2423Gln) c.7153G>C (p.Glu2385Gln) c.7222G>C (p.Glu2408Gln) c.6850G>C (p.Glu2284Gln) c.7006G>C (p.Glu2336Gln) c.7213G>C (p.Glu2405Gln) c.6514G>C (p.Glu2172Gln) c.7261G>C (p.Glu2421Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727780C>T	CA276970967	CREBBP	c.7267G>A (p.Glu2423Lys) c.7153G>A (p.Glu2385Lys) c.7222G>A (p.Glu2408Lys) c.6850G>A (p.Glu2284Lys) c.7006G>A (p.Glu2336Lys) c.7213G>A (p.Glu2405Lys) c.6514G>A (p.Glu2172Lys) c.7261G>A (p.Glu2421Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.3727781G>A	CA7868924	CREBBP	c.7266C>T (p.Ser2422=) c.7152C>T (p.Ser2384=) c.7221C>T (p.Ser2407=) c.6849C>T (p.Ser2283=) c.7005C>T (p.Ser2335=) c.7212C>T (p.Ser2404=) c.6513C>T (p.Ser2171=) c.7260C>T (p.Ser2420=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727781G>C	CA394550181	CREBBP	c.7266C>G (p.Ser2422Arg) c.7152C>G (p.Ser2384Arg) c.7221C>G (p.Ser2407Arg) c.6849C>G (p.Ser2283Arg) c.7005C>G (p.Ser2335Arg) c.7212C>G (p.Ser2404Arg) c.6513C>G (p.Ser2171Arg) c.7260C>G (p.Ser2420Arg)	ClinVar dbSNP
16	g.3727781G=	CA2202928336	CREBBP	c.7266C= (p.Ser2422=) c.7152C= (p.Ser2384=) c.7221C= (p.Ser2407=) c.6849C= (p.Ser2283=) c.7005C= (p.Ser2335=) c.7212C= (p.Ser2404=) c.6513C= (p.Ser2171=) c.7260C= (p.Ser2420=)
16	g.3727781G>T	CA394550182	CREBBP	c.7266C>A (p.Ser2422Arg) c.7152C>A (p.Ser2384Arg) c.7221C>A (p.Ser2407Arg) c.6849C>A (p.Ser2283Arg) c.7005C>A (p.Ser2335Arg) c.7212C>A (p.Ser2404Arg) c.6513C>A (p.Ser2171Arg) c.7260C>A (p.Ser2420Arg)	gnomAD v4
16	g.3727782C>A	CA394550183	CREBBP	c.7265G>T (p.Ser2422Ile) c.7151G>T (p.Ser2384Ile) c.7220G>T (p.Ser2407Ile) c.6848G>T (p.Ser2283Ile) c.7004G>T (p.Ser2335Ile) c.7211G>T (p.Ser2404Ile) c.6512G>T (p.Ser2171Ile) c.7259G>T (p.Ser2420Ile)	dbSNP
16	g.3727782C=	CA2202928337	CREBBP	c.7265G= (p.Ser2422=) c.7151G= (p.Ser2384=) c.7220G= (p.Ser2407=) c.6848G= (p.Ser2283=) c.7004G= (p.Ser2335=) c.7211G= (p.Ser2404=) c.6512G= (p.Ser2171=) c.7259G= (p.Ser2420=)
16	g.3727782C>G	CA394550184	CREBBP	c.7265G>C (p.Ser2422Thr) c.7151G>C (p.Ser2384Thr) c.7220G>C (p.Ser2407Thr) c.6848G>C (p.Ser2283Thr) c.7004G>C (p.Ser2335Thr) c.7211G>C (p.Ser2404Thr) c.6512G>C (p.Ser2171Thr) c.7259G>C (p.Ser2420Thr)	dbSNP
16	g.3727782C>T	CA7868925	CREBBP	c.7265G>A (p.Ser2422Asn) c.7151G>A (p.Ser2384Asn) c.7220G>A (p.Ser2407Asn) c.6848G>A (p.Ser2283Asn) c.7004G>A (p.Ser2335Asn) c.7211G>A (p.Ser2404Asn) c.6512G>A (p.Ser2171Asn) c.7259G>A (p.Ser2420Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727783T>A	CA394550185	CREBBP	c.7264A>T (p.Ser2422Cys) c.7150A>T (p.Ser2384Cys) c.7219A>T (p.Ser2407Cys) c.6847A>T (p.Ser2283Cys) c.7003A>T (p.Ser2335Cys) c.7210A>T (p.Ser2404Cys) c.6511A>T (p.Ser2171Cys) c.7258A>T (p.Ser2420Cys)
16	g.3727783T>C	CA394550186	CREBBP	c.7264A>G (p.Ser2422Gly) c.7150A>G (p.Ser2384Gly) c.7219A>G (p.Ser2407Gly) c.6847A>G (p.Ser2283Gly) c.7003A>G (p.Ser2335Gly) c.7210A>G (p.Ser2404Gly) c.6511A>G (p.Ser2171Gly) c.7258A>G (p.Ser2420Gly)	gnomAD v4
16	g.3727783T>G	CA394550187	CREBBP	c.7264A>C (p.Ser2422Arg) c.7150A>C (p.Ser2384Arg) c.7219A>C (p.Ser2407Arg) c.6847A>C (p.Ser2283Arg) c.7003A>C (p.Ser2335Arg) c.7210A>C (p.Ser2404Arg) c.6511A>C (p.Ser2171Arg) c.7258A>C (p.Ser2420Arg)
16	g.3727784G>A	CA493393119	CREBBP	c.7263C>T (p.Ser2421=) c.7149C>T (p.Ser2383=) c.7218C>T (p.Ser2406=) c.6846C>T (p.Ser2282=) c.7002C>T (p.Ser2334=) c.7209C>T (p.Ser2403=) c.6510C>T (p.Ser2170=) c.7257C>T (p.Ser2419=)	dbSNP gnomAD v4
16	g.3727784G>C	CA493393117	CREBBP	c.7263C>G (p.Ser2421=) c.7149C>G (p.Ser2383=) c.7218C>G (p.Ser2406=) c.6846C>G (p.Ser2282=) c.7002C>G (p.Ser2334=) c.7209C>G (p.Ser2403=) c.6510C>G (p.Ser2170=) c.7257C>G (p.Ser2419=)	dbSNP
16	g.3727784G>T	CA493393115	CREBBP	c.7263C>A (p.Ser2421=) c.7149C>A (p.Ser2383=) c.7218C>A (p.Ser2406=) c.6846C>A (p.Ser2282=) c.7002C>A (p.Ser2334=) c.7209C>A (p.Ser2403=) c.6510C>A (p.Ser2170=) c.7257C>A (p.Ser2419=)	gnomAD v4
16	g.3727785G>A	CA394550188	CREBBP	c.7262C>T (p.Ser2421Phe) c.7148C>T (p.Ser2383Phe) c.7217C>T (p.Ser2406Phe) c.6845C>T (p.Ser2282Phe) c.7001C>T (p.Ser2334Phe) c.7208C>T (p.Ser2403Phe) c.6509C>T (p.Ser2170Phe) c.7256C>T (p.Ser2419Phe)	dbSNP
16	g.3727785G>C	CA394550189	CREBBP	c.7262C>G (p.Ser2421Cys) c.7148C>G (p.Ser2383Cys) c.7217C>G (p.Ser2406Cys) c.6845C>G (p.Ser2282Cys) c.7001C>G (p.Ser2334Cys) c.7208C>G (p.Ser2403Cys) c.6509C>G (p.Ser2170Cys) c.7256C>G (p.Ser2419Cys)	dbSNP
16	g.3727785G>T	CA394550190	CREBBP	c.7262C>A (p.Ser2421Tyr) c.7148C>A (p.Ser2383Tyr) c.7217C>A (p.Ser2406Tyr) c.6845C>A (p.Ser2282Tyr) c.7001C>A (p.Ser2334Tyr) c.7208C>A (p.Ser2403Tyr) c.6509C>A (p.Ser2170Tyr) c.7256C>A (p.Ser2419Tyr)	dbSNP
16	g.3727786A>C	CA394550191	CREBBP	c.7261T>G (p.Ser2421Ala) c.7147T>G (p.Ser2383Ala) c.7216T>G (p.Ser2406Ala) c.6844T>G (p.Ser2282Ala) c.7000T>G (p.Ser2334Ala) c.7207T>G (p.Ser2403Ala) c.6508T>G (p.Ser2170Ala) c.7255T>G (p.Ser2419Ala)	dbSNP
16	g.3727786A>G	CA394550193	CREBBP	c.7261T>C (p.Ser2421Pro) c.7147T>C (p.Ser2383Pro) c.7216T>C (p.Ser2406Pro) c.6844T>C (p.Ser2282Pro) c.7000T>C (p.Ser2334Pro) c.7207T>C (p.Ser2403Pro) c.6508T>C (p.Ser2170Pro) c.7255T>C (p.Ser2419Pro)	dbSNP
16	g.3727786A>T	CA394550192	CREBBP	c.7261T>A (p.Ser2421Thr) c.7147T>A (p.Ser2383Thr) c.7216T>A (p.Ser2406Thr) c.6844T>A (p.Ser2282Thr) c.7000T>A (p.Ser2334Thr) c.7207T>A (p.Ser2403Thr) c.6508T>A (p.Ser2170Thr) c.7255T>A (p.Ser2419Thr)	dbSNP
16	g.3727787C>A	CA493393127	CREBBP	c.7260G>T (p.Leu2420=) c.7146G>T (p.Leu2382=) c.7215G>T (p.Leu2405=) c.6843G>T (p.Leu2281=) c.6999G>T (p.Leu2333=) c.7206G>T (p.Leu2402=) c.6507G>T (p.Leu2169=) c.7254G>T (p.Leu2418=)
16	g.3727787C=	CA2202928338	CREBBP	c.7260G= (p.Leu2420=) c.7146G= (p.Leu2382=) c.7215G= (p.Leu2405=) c.6843G= (p.Leu2281=) c.6999G= (p.Leu2333=) c.7206G= (p.Leu2402=) c.6507G= (p.Leu2169=) c.7254G= (p.Leu2418=)
16	g.3727787C>G	CA493393129	CREBBP	c.7260G>C (p.Leu2420=) c.7146G>C (p.Leu2382=) c.7215G>C (p.Leu2405=) c.6843G>C (p.Leu2281=) c.6999G>C (p.Leu2333=) c.7206G>C (p.Leu2402=) c.6507G>C (p.Leu2169=) c.7254G>C (p.Leu2418=)	dbSNP
16	g.3727787C>T	CA493393128	CREBBP	c.7260G>A (p.Leu2420=) c.7146G>A (p.Leu2382=) c.7215G>A (p.Leu2405=) c.6843G>A (p.Leu2281=) c.6999G>A (p.Leu2333=) c.7206G>A (p.Leu2402=) c.6507G>A (p.Leu2169=) c.7254G>A (p.Leu2418=)	dbSNP gnomAD v4
16	g.3727788A>C	CA394550194	CREBBP	c.7259T>G (p.Leu2420Arg) c.7145T>G (p.Leu2382Arg) c.7214T>G (p.Leu2405Arg) c.6842T>G (p.Leu2281Arg) c.6998T>G (p.Leu2333Arg) c.7205T>G (p.Leu2402Arg) c.6506T>G (p.Leu2169Arg) c.7253T>G (p.Leu2418Arg)
16	g.3727788A>G	CA394550195	CREBBP	c.7259T>C (p.Leu2420Pro) c.7145T>C (p.Leu2382Pro) c.7214T>C (p.Leu2405Pro) c.6842T>C (p.Leu2281Pro) c.6998T>C (p.Leu2333Pro) c.7205T>C (p.Leu2402Pro) c.6506T>C (p.Leu2169Pro) c.7253T>C (p.Leu2418Pro)	dbSNP
16	g.3727788A>T	CA394550196	CREBBP	c.7259T>A (p.Leu2420Gln) c.7145T>A (p.Leu2382Gln) c.7214T>A (p.Leu2405Gln) c.6842T>A (p.Leu2281Gln) c.6998T>A (p.Leu2333Gln) c.7205T>A (p.Leu2402Gln) c.6506T>A (p.Leu2169Gln) c.7253T>A (p.Leu2418Gln)	dbSNP
16	g.3727789G>A	CA493393131	CREBBP	c.7258C>T (p.Leu2420=) c.7144C>T (p.Leu2382=) c.7213C>T (p.Leu2405=) c.6841C>T (p.Leu2281=) c.6997C>T (p.Leu2333=) c.7204C>T (p.Leu2402=) c.6505C>T (p.Leu2169=) c.7252C>T (p.Leu2418=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727789G>C	CA394550197	CREBBP	c.7258C>G (p.Leu2420Val) c.7144C>G (p.Leu2382Val) c.7213C>G (p.Leu2405Val) c.6841C>G (p.Leu2281Val) c.6997C>G (p.Leu2333Val) c.7204C>G (p.Leu2402Val) c.6505C>G (p.Leu2169Val) c.7252C>G (p.Leu2418Val)	dbSNP
16	g.3727789G=	CA2202928339	CREBBP	c.7258C= (p.Leu2420=) c.7144C= (p.Leu2382=) c.7213C= (p.Leu2405=) c.6841C= (p.Leu2281=) c.6997C= (p.Leu2333=) c.7204C= (p.Leu2402=) c.6505C= (p.Leu2169=) c.7252C= (p.Leu2418=)
16	g.3727789G>T	CA394550198	CREBBP	c.7258C>A (p.Leu2420Met) c.7144C>A (p.Leu2382Met) c.7213C>A (p.Leu2405Met) c.6841C>A (p.Leu2281Met) c.6997C>A (p.Leu2333Met) c.7204C>A (p.Leu2402Met) c.6505C>A (p.Leu2169Met) c.7252C>A (p.Leu2418Met)	dbSNP
16	g.3727790C>A	CA493393133	CREBBP	c.7257G>T (p.Ala2419=) c.7143G>T (p.Ala2381=) c.7212G>T (p.Ala2404=) c.6840G>T (p.Ala2280=) c.6996G>T (p.Ala2332=) c.7203G>T (p.Ala2401=) c.6504G>T (p.Ala2168=) c.7251G>T (p.Ala2417=)
16	g.3727790C=	CA2202928340	CREBBP	c.7257G= (p.Ala2419=) c.7143G= (p.Ala2381=) c.7212G= (p.Ala2404=) c.6840G= (p.Ala2280=) c.6996G= (p.Ala2332=) c.7203G= (p.Ala2401=) c.6504G= (p.Ala2168=) c.7251G= (p.Ala2417=)
16	g.3727790C>G	CA493393134	CREBBP	c.7257G>C (p.Ala2419=) c.7143G>C (p.Ala2381=) c.7212G>C (p.Ala2404=) c.6840G>C (p.Ala2280=) c.6996G>C (p.Ala2332=) c.7203G>C (p.Ala2401=) c.6504G>C (p.Ala2168=) c.7251G>C (p.Ala2417=)	dbSNP
16	g.3727790C>T	CA276970972	CREBBP	c.7257G>A (p.Ala2419=) c.7143G>A (p.Ala2381=) c.7212G>A (p.Ala2404=) c.6840G>A (p.Ala2280=) c.6996G>A (p.Ala2332=) c.7203G>A (p.Ala2401=) c.6504G>A (p.Ala2168=) c.7251G>A (p.Ala2417=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3727791G>A	CA7868926	CREBBP	c.7256C>T (p.Ala2419Val) c.7142C>T (p.Ala2381Val) c.7211C>T (p.Ala2404Val) c.6839C>T (p.Ala2280Val) c.6995C>T (p.Ala2332Val) c.7202C>T (p.Ala2401Val) c.6503C>T (p.Ala2168Val) c.7250C>T (p.Ala2417Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727791G>C	CA394550199	CREBBP	c.7256C>G (p.Ala2419Gly) c.7142C>G (p.Ala2381Gly) c.7211C>G (p.Ala2404Gly) c.6839C>G (p.Ala2280Gly) c.6995C>G (p.Ala2332Gly) c.7202C>G (p.Ala2401Gly) c.6503C>G (p.Ala2168Gly) c.7250C>G (p.Ala2417Gly)	dbSNP
16	g.3727791G=	CA2202928341	CREBBP	c.7256C= (p.Ala2419=) c.7142C= (p.Ala2381=) c.7211C= (p.Ala2404=) c.6839C= (p.Ala2280=) c.6995C= (p.Ala2332=) c.7202C= (p.Ala2401=) c.6503C= (p.Ala2168=) c.7250C= (p.Ala2417=)
16	g.3727791G>T	CA394550200	CREBBP	c.7256C>A (p.Ala2419Glu) c.7142C>A (p.Ala2381Glu) c.7211C>A (p.Ala2404Glu) c.6839C>A (p.Ala2280Glu) c.6995C>A (p.Ala2332Glu) c.7202C>A (p.Ala2401Glu) c.6503C>A (p.Ala2168Glu) c.7250C>A (p.Ala2417Glu)	dbSNP
16	g.3727792C>A	CA394550201	CREBBP	c.7255G>T (p.Ala2419Ser) c.7141G>T (p.Ala2381Ser) c.7210G>T (p.Ala2404Ser) c.6838G>T (p.Ala2280Ser) c.6994G>T (p.Ala2332Ser) c.7201G>T (p.Ala2401Ser) c.6502G>T (p.Ala2168Ser) c.7249G>T (p.Ala2417Ser)	dbSNP
16	g.3727792C=	CA2202928342	CREBBP	c.7255G= (p.Ala2419=) c.7141G= (p.Ala2381=) c.7210G= (p.Ala2404=) c.6838G= (p.Ala2280=) c.6994G= (p.Ala2332=) c.7201G= (p.Ala2401=) c.6502G= (p.Ala2168=) c.7249G= (p.Ala2417=)
16	g.3727792C>G	CA394550202	CREBBP	c.7255G>C (p.Ala2419Pro) c.7141G>C (p.Ala2381Pro) c.7210G>C (p.Ala2404Pro) c.6838G>C (p.Ala2280Pro) c.6994G>C (p.Ala2332Pro) c.7201G>C (p.Ala2401Pro) c.6502G>C (p.Ala2168Pro) c.7249G>C (p.Ala2417Pro)	dbSNP
16	g.3727792C>T	CA7868927	CREBBP	c.7255G>A (p.Ala2419Thr) c.7141G>A (p.Ala2381Thr) c.7210G>A (p.Ala2404Thr) c.6838G>A (p.Ala2280Thr) c.6994G>A (p.Ala2332Thr) c.7201G>A (p.Ala2401Thr) c.6502G>A (p.Ala2168Thr) c.7249G>A (p.Ala2417Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727793A>C	CA394550203	CREBBP	c.7254T>G (p.Ser2418Arg) c.7140T>G (p.Ser2380Arg) c.7209T>G (p.Ser2403Arg) c.6837T>G (p.Ser2279Arg) c.6993T>G (p.Ser2331Arg) c.7200T>G (p.Ser2400Arg) c.6501T>G (p.Ser2167Arg) c.7248T>G (p.Ser2416Arg)	dbSNP
16	g.3727793A>G	CA493393143	CREBBP	c.7254T>C (p.Ser2418=) c.7140T>C (p.Ser2380=) c.7209T>C (p.Ser2403=) c.6837T>C (p.Ser2279=) c.6993T>C (p.Ser2331=) c.7200T>C (p.Ser2400=) c.6501T>C (p.Ser2167=) c.7248T>C (p.Ser2416=)	dbSNP
16	g.3727793A>T	CA394550204	CREBBP	c.7254T>A (p.Ser2418Arg) c.7140T>A (p.Ser2380Arg) c.7209T>A (p.Ser2403Arg) c.6837T>A (p.Ser2279Arg) c.6993T>A (p.Ser2331Arg) c.7200T>A (p.Ser2400Arg) c.6501T>A (p.Ser2167Arg) c.7248T>A (p.Ser2416Arg)	dbSNP
16	g.3727794C>A	CA394550205	CREBBP	c.7253G>T (p.Ser2418Ile) c.7139G>T (p.Ser2380Ile) c.7208G>T (p.Ser2403Ile) c.6836G>T (p.Ser2279Ile) c.6992G>T (p.Ser2331Ile) c.7199G>T (p.Ser2400Ile) c.6500G>T (p.Ser2167Ile) c.7247G>T (p.Ser2416Ile)	dbSNP
16	g.3727794C=	CA2202928343	CREBBP	c.7253G= (p.Ser2418=) c.7139G= (p.Ser2380=) c.7208G= (p.Ser2403=) c.6836G= (p.Ser2279=) c.6992G= (p.Ser2331=) c.7199G= (p.Ser2400=) c.6500G= (p.Ser2167=) c.7247G= (p.Ser2416=)
16	g.3727794C>G	CA394550207	CREBBP	c.7253G>C (p.Ser2418Thr) c.7139G>C (p.Ser2380Thr) c.7208G>C (p.Ser2403Thr) c.6836G>C (p.Ser2279Thr) c.6992G>C (p.Ser2331Thr) c.7199G>C (p.Ser2400Thr) c.6500G>C (p.Ser2167Thr) c.7247G>C (p.Ser2416Thr)	dbSNP
16	g.3727794C>T	CA394550206	CREBBP	c.7253G>A (p.Ser2418Asn) c.7139G>A (p.Ser2380Asn) c.7208G>A (p.Ser2403Asn) c.6836G>A (p.Ser2279Asn) c.6992G>A (p.Ser2331Asn) c.7199G>A (p.Ser2400Asn) c.6500G>A (p.Ser2167Asn) c.7247G>A (p.Ser2416Asn)	dbSNP
16	g.3727795T>A	CA394550208	CREBBP	c.7252A>T (p.Ser2418Cys) c.7138A>T (p.Ser2380Cys) c.7207A>T (p.Ser2403Cys) c.6835A>T (p.Ser2279Cys) c.6991A>T (p.Ser2331Cys) c.7198A>T (p.Ser2400Cys) c.6499A>T (p.Ser2167Cys) c.7246A>T (p.Ser2416Cys)	dbSNP
16	g.3727795T>C	CA394550209	CREBBP	c.7252A>G (p.Ser2418Gly) c.7138A>G (p.Ser2380Gly) c.7207A>G (p.Ser2403Gly) c.6835A>G (p.Ser2279Gly) c.6991A>G (p.Ser2331Gly) c.7198A>G (p.Ser2400Gly) c.6499A>G (p.Ser2167Gly) c.7246A>G (p.Ser2416Gly)	dbSNP
16	g.3727795T>G	CA394550210	CREBBP	c.7252A>C (p.Ser2418Arg) c.7138A>C (p.Ser2380Arg) c.7207A>C (p.Ser2403Arg) c.6835A>C (p.Ser2279Arg) c.6991A>C (p.Ser2331Arg) c.7198A>C (p.Ser2400Arg) c.6499A>C (p.Ser2167Arg) c.7246A>C (p.Ser2416Arg)
16	g.3727796C>A	CA394550211	CREBBP	c.7251G>T (p.Arg2417Ser) c.7137G>T (p.Arg2379Ser) c.7206G>T (p.Arg2402Ser) c.6834G>T (p.Arg2278Ser) c.6990G>T (p.Arg2330Ser) c.7197G>T (p.Arg2399Ser) c.6498G>T (p.Arg2166Ser) c.7245G>T (p.Arg2415Ser)
16	g.3727796C=	CA2202928344	CREBBP	c.7251G= (p.Arg2417=) c.7137G= (p.Arg2379=) c.7206G= (p.Arg2402=) c.6834G= (p.Arg2278=) c.6990G= (p.Arg2330=) c.7197G= (p.Arg2399=) c.6498G= (p.Arg2166=) c.7245G= (p.Arg2415=)
16	g.3727796C>G	CA394550212	CREBBP	c.7251G>C (p.Arg2417Ser) c.7137G>C (p.Arg2379Ser) c.7206G>C (p.Arg2402Ser) c.6834G>C (p.Arg2278Ser) c.6990G>C (p.Arg2330Ser) c.7197G>C (p.Arg2399Ser) c.6498G>C (p.Arg2166Ser) c.7245G>C (p.Arg2415Ser)
16	g.3727796C>T	CA493393145	CREBBP	c.7251G>A (p.Arg2417=) c.7137G>A (p.Arg2379=) c.7206G>A (p.Arg2402=) c.6834G>A (p.Arg2278=) c.6990G>A (p.Arg2330=) c.7197G>A (p.Arg2399=) c.6498G>A (p.Arg2166=) c.7245G>A (p.Arg2415=)	ClinVar dbSNP
16	g.3727797C>A	CA394550213	CREBBP	c.7250G>T (p.Arg2417Met) c.7136G>T (p.Arg2379Met) c.7205G>T (p.Arg2402Met) c.6833G>T (p.Arg2278Met) c.6989G>T (p.Arg2330Met) c.7196G>T (p.Arg2399Met) c.6497G>T (p.Arg2166Met) c.7244G>T (p.Arg2415Met)
16	g.3727797C>G	CA394550214	CREBBP	c.7250G>C (p.Arg2417Thr) c.7136G>C (p.Arg2379Thr) c.7205G>C (p.Arg2402Thr) c.6833G>C (p.Arg2278Thr) c.6989G>C (p.Arg2330Thr) c.7196G>C (p.Arg2399Thr) c.6497G>C (p.Arg2166Thr) c.7244G>C (p.Arg2415Thr)	dbSNP gnomAD v4
16	g.3727797C>T	CA394550215	CREBBP	c.7250G>A (p.Arg2417Lys) c.7136G>A (p.Arg2379Lys) c.7205G>A (p.Arg2402Lys) c.6833G>A (p.Arg2278Lys) c.6989G>A (p.Arg2330Lys) c.7196G>A (p.Arg2399Lys) c.6497G>A (p.Arg2166Lys) c.7244G>A (p.Arg2415Lys)	dbSNP gnomAD v4
16	g.3727798T>A	CA394550216	CREBBP	c.7249A>T (p.Arg2417Trp) c.7135A>T (p.Arg2379Trp) c.7204A>T (p.Arg2402Trp) c.6832A>T (p.Arg2278Trp) c.6988A>T (p.Arg2330Trp) c.7195A>T (p.Arg2399Trp) c.6496A>T (p.Arg2166Trp) c.7243A>T (p.Arg2415Trp)
16	g.3727798T>C	CA394550217	CREBBP	c.7249A>G (p.Arg2417Gly) c.7135A>G (p.Arg2379Gly) c.7204A>G (p.Arg2402Gly) c.6832A>G (p.Arg2278Gly) c.6988A>G (p.Arg2330Gly) c.7195A>G (p.Arg2399Gly) c.6496A>G (p.Arg2166Gly) c.7243A>G (p.Arg2415Gly)
16	g.3727798T>G	CA493393147	CREBBP	c.7249A>C (p.Arg2417=) c.7135A>C (p.Arg2379=) c.7204A>C (p.Arg2402=) c.6832A>C (p.Arg2278=) c.6988A>C (p.Arg2330=) c.7195A>C (p.Arg2399=) c.6496A>C (p.Arg2166=) c.7243A>C (p.Arg2415=)
16	g.3727799G>A	CA493393149	CREBBP	c.7248C>T (p.Ser2416=) c.7134C>T (p.Ser2378=) c.7203C>T (p.Ser2401=) c.6831C>T (p.Ser2277=) c.6987C>T (p.Ser2329=) c.7194C>T (p.Ser2398=) c.6495C>T (p.Ser2165=) c.7242C>T (p.Ser2414=)	dbSNP gnomAD v4
16	g.3727799G>C	CA394550218	CREBBP	c.7248C>G (p.Ser2416Arg) c.7134C>G (p.Ser2378Arg) c.7203C>G (p.Ser2401Arg) c.6831C>G (p.Ser2277Arg) c.6987C>G (p.Ser2329Arg) c.7194C>G (p.Ser2398Arg) c.6495C>G (p.Ser2165Arg) c.7242C>G (p.Ser2414Arg)	dbSNP
16	g.3727799G=	CA2202928345	CREBBP	c.7248C= (p.Ser2416=) c.7134C= (p.Ser2378=) c.7203C= (p.Ser2401=) c.6831C= (p.Ser2277=) c.6987C= (p.Ser2329=) c.7194C= (p.Ser2398=) c.6495C= (p.Ser2165=) c.7242C= (p.Ser2414=)
16	g.3727799G>T	CA394550219	CREBBP	c.7248C>A (p.Ser2416Arg) c.7134C>A (p.Ser2378Arg) c.7203C>A (p.Ser2401Arg) c.6831C>A (p.Ser2277Arg) c.6987C>A (p.Ser2329Arg) c.7194C>A (p.Ser2398Arg) c.6495C>A (p.Ser2165Arg) c.7242C>A (p.Ser2414Arg)
16	g.3727800C>A	CA394550220	CREBBP	c.7247G>T (p.Ser2416Ile) c.7133G>T (p.Ser2378Ile) c.7202G>T (p.Ser2401Ile) c.6830G>T (p.Ser2277Ile) c.6986G>T (p.Ser2329Ile) c.7193G>T (p.Ser2398Ile) c.6494G>T (p.Ser2165Ile) c.7241G>T (p.Ser2414Ile)	dbSNP
16	g.3727800C>G	CA394550222	CREBBP	c.7247G>C (p.Ser2416Thr) c.7133G>C (p.Ser2378Thr) c.7202G>C (p.Ser2401Thr) c.6830G>C (p.Ser2277Thr) c.6986G>C (p.Ser2329Thr) c.7193G>C (p.Ser2398Thr) c.6494G>C (p.Ser2165Thr) c.7241G>C (p.Ser2414Thr)	dbSNP
16	g.3727800C>T	CA394550221	CREBBP	c.7247G>A (p.Ser2416Asn) c.7133G>A (p.Ser2378Asn) c.7202G>A (p.Ser2401Asn) c.6830G>A (p.Ser2277Asn) c.6986G>A (p.Ser2329Asn) c.7193G>A (p.Ser2398Asn) c.6494G>A (p.Ser2165Asn) c.7241G>A (p.Ser2414Asn)	dbSNP
16	g.3727801T>A	CA394550223	CREBBP	c.7246A>T (p.Ser2416Cys) c.7132A>T (p.Ser2378Cys) c.7201A>T (p.Ser2401Cys) c.6829A>T (p.Ser2277Cys) c.6985A>T (p.Ser2329Cys) c.7192A>T (p.Ser2398Cys) c.6493A>T (p.Ser2165Cys) c.7240A>T (p.Ser2414Cys)
16	g.3727801T>C	CA276970977	CREBBP	c.7246A>G (p.Ser2416Gly) c.7132A>G (p.Ser2378Gly) c.7201A>G (p.Ser2401Gly) c.6829A>G (p.Ser2277Gly) c.6985A>G (p.Ser2329Gly) c.7192A>G (p.Ser2398Gly) c.6493A>G (p.Ser2165Gly) c.7240A>G (p.Ser2414Gly)	dbSNP gnomAD v4
16	g.3727801T>G	CA394550224	CREBBP	c.7246A>C (p.Ser2416Arg) c.7132A>C (p.Ser2378Arg) c.7201A>C (p.Ser2401Arg) c.6829A>C (p.Ser2277Arg) c.6985A>C (p.Ser2329Arg) c.7192A>C (p.Ser2398Arg) c.6493A>C (p.Ser2165Arg) c.7240A>C (p.Ser2414Arg)	gnomAD v4
16	g.3727801T=	CA2202928346	CREBBP	c.7246A= (p.Ser2416=) c.7132A= (p.Ser2378=) c.7201A= (p.Ser2401=) c.6829A= (p.Ser2277=) c.6985A= (p.Ser2329=) c.7192A= (p.Ser2398=) c.6493A= (p.Ser2165=) c.7240A= (p.Ser2414=)
16	g.3727802G>A	CA493393159	CREBBP	c.7245C>T (p.Pro2415=) c.7131C>T (p.Pro2377=) c.7200C>T (p.Pro2400=) c.6828C>T (p.Pro2276=) c.6984C>T (p.Pro2328=) c.7191C>T (p.Pro2397=) c.6492C>T (p.Pro2164=) c.7239C>T (p.Pro2413=)	ClinVar dbSNP
16	g.3727802G>C	CA493393158	CREBBP	c.7245C>G (p.Pro2415=) c.7131C>G (p.Pro2377=) c.7200C>G (p.Pro2400=) c.6828C>G (p.Pro2276=) c.6984C>G (p.Pro2328=) c.7191C>G (p.Pro2397=) c.6492C>G (p.Pro2164=) c.7239C>G (p.Pro2413=)
16	g.3727802G=	CA2202928347	CREBBP	c.7245C= (p.Pro2415=) c.7131C= (p.Pro2377=) c.7200C= (p.Pro2400=) c.6828C= (p.Pro2276=) c.6984C= (p.Pro2328=) c.7191C= (p.Pro2397=) c.6492C= (p.Pro2164=) c.7239C= (p.Pro2413=)
16	g.3727802G>T	CA493393156	CREBBP	c.7245C>A (p.Pro2415=) c.7131C>A (p.Pro2377=) c.7200C>A (p.Pro2400=) c.6828C>A (p.Pro2276=) c.6984C>A (p.Pro2328=) c.7191C>A (p.Pro2397=) c.6492C>A (p.Pro2164=) c.7239C>A (p.Pro2413=)
16	g.3727805_3727806del	CA2731838710	CREBBP	c.7244_7245del (p.Pro2415GlnfsTer?) c.7130_7131del (p.Pro2377GlnfsTer?) c.7199_7200del (p.Pro2400GlnfsTer?) c.6827_6828del (p.Pro2276GlnfsTer?) c.6983_6984del (p.Pro2328GlnfsTer?) c.7190_7191del (p.Pro2397GlnfsTer?) c.6491_6492del (p.Pro2164GlnfsTer?) c.7238_7239del (p.Pro2413GlnfsTer?)	dbSNP
16	g.3727803G>A	CA394550225	CREBBP	c.7244C>T (p.Pro2415Leu) c.7130C>T (p.Pro2377Leu) c.7199C>T (p.Pro2400Leu) c.6827C>T (p.Pro2276Leu) c.6983C>T (p.Pro2328Leu) c.7190C>T (p.Pro2397Leu) c.6491C>T (p.Pro2164Leu) c.7238C>T (p.Pro2413Leu)	dbSNP
16	g.3727803G>C	CA394550226	CREBBP	c.7244C>G (p.Pro2415Arg) c.7130C>G (p.Pro2377Arg) c.7199C>G (p.Pro2400Arg) c.6827C>G (p.Pro2276Arg) c.6983C>G (p.Pro2328Arg) c.7190C>G (p.Pro2397Arg) c.6491C>G (p.Pro2164Arg) c.7238C>G (p.Pro2413Arg)	dbSNP
16	g.3727803G>T	CA394550227	CREBBP	c.7244C>A (p.Pro2415His) c.7130C>A (p.Pro2377His) c.7199C>A (p.Pro2400His) c.6827C>A (p.Pro2276His) c.6983C>A (p.Pro2328His) c.7190C>A (p.Pro2397His) c.6491C>A (p.Pro2164His) c.7238C>A (p.Pro2413His)	dbSNP
16	g.3727804G>A	CA7868928	CREBBP	c.7243C>T (p.Pro2415Ser) c.7129C>T (p.Pro2377Ser) c.7198C>T (p.Pro2400Ser) c.6826C>T (p.Pro2276Ser) c.6982C>T (p.Pro2328Ser) c.7189C>T (p.Pro2397Ser) c.6490C>T (p.Pro2164Ser) c.7237C>T (p.Pro2413Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727804G>C	CA394550228	CREBBP	c.7243C>G (p.Pro2415Ala) c.7129C>G (p.Pro2377Ala) c.7198C>G (p.Pro2400Ala) c.6826C>G (p.Pro2276Ala) c.6982C>G (p.Pro2328Ala) c.7189C>G (p.Pro2397Ala) c.6490C>G (p.Pro2164Ala) c.7237C>G (p.Pro2413Ala)	dbSNP
16	g.3727804G=	CA2202928348	CREBBP	c.7243C= (p.Pro2415=) c.7129C= (p.Pro2377=) c.7198C= (p.Pro2400=) c.6826C= (p.Pro2276=) c.6982C= (p.Pro2328=) c.7189C= (p.Pro2397=) c.6490C= (p.Pro2164=) c.7237C= (p.Pro2413=)
16	g.3727804G>T	CA394550229	CREBBP	c.7243C>A (p.Pro2415Thr) c.7129C>A (p.Pro2377Thr) c.7198C>A (p.Pro2400Thr) c.6826C>A (p.Pro2276Thr) c.6982C>A (p.Pro2328Thr) c.7189C>A (p.Pro2397Thr) c.6490C>A (p.Pro2164Thr) c.7237C>A (p.Pro2413Thr)	dbSNP
16	g.3727805G>A	CA493393164	CREBBP	c.7242C>T (p.Thr2414=) c.7128C>T (p.Thr2376=) c.7197C>T (p.Thr2399=) c.6825C>T (p.Thr2275=) c.6981C>T (p.Thr2327=) c.7188C>T (p.Thr2396=) c.6489C>T (p.Thr2163=) c.7236C>T (p.Thr2412=)	dbSNP
16	g.3727805G>C	CA493393166	CREBBP	c.7242C>G (p.Thr2414=) c.7128C>G (p.Thr2376=) c.7197C>G (p.Thr2399=) c.6825C>G (p.Thr2275=) c.6981C>G (p.Thr2327=) c.7188C>G (p.Thr2396=) c.6489C>G (p.Thr2163=) c.7236C>G (p.Thr2412=)
16	g.3727805G=	CA2202928349	CREBBP	c.7242C= (p.Thr2414=) c.7128C= (p.Thr2376=) c.7197C= (p.Thr2399=) c.6825C= (p.Thr2275=) c.6981C= (p.Thr2327=) c.7188C= (p.Thr2396=) c.6489C= (p.Thr2163=) c.7236C= (p.Thr2412=)
16	g.3727805G>T	CA493393167	CREBBP	c.7242C>A (p.Thr2414=) c.7128C>A (p.Thr2376=) c.7197C>A (p.Thr2399=) c.6825C>A (p.Thr2275=) c.6981C>A (p.Thr2327=) c.7188C>A (p.Thr2396=) c.6489C>A (p.Thr2163=) c.7236C>A (p.Thr2412=)
16	g.3727806G>A	CA394550230	CREBBP	c.7241C>T (p.Thr2414Ile) c.7127C>T (p.Thr2376Ile) c.7196C>T (p.Thr2399Ile) c.6824C>T (p.Thr2275Ile) c.6980C>T (p.Thr2327Ile) c.7187C>T (p.Thr2396Ile) c.6488C>T (p.Thr2163Ile) c.7235C>T (p.Thr2412Ile)	dbSNP gnomAD v4
16	g.3727806G>C	CA394550231	CREBBP	c.7241C>G (p.Thr2414Ser) c.7127C>G (p.Thr2376Ser) c.7196C>G (p.Thr2399Ser) c.6824C>G (p.Thr2275Ser) c.6980C>G (p.Thr2327Ser) c.7187C>G (p.Thr2396Ser) c.6488C>G (p.Thr2163Ser) c.7235C>G (p.Thr2412Ser)	dbSNP gnomAD v4
16	g.3727806G>T	CA394550232	CREBBP	c.7241C>A (p.Thr2414Asn) c.7127C>A (p.Thr2376Asn) c.7196C>A (p.Thr2399Asn) c.6824C>A (p.Thr2275Asn) c.6980C>A (p.Thr2327Asn) c.7187C>A (p.Thr2396Asn) c.6488C>A (p.Thr2163Asn) c.7235C>A (p.Thr2412Asn)
16	g.3727807T>A	CA394550235	CREBBP	c.7240A>T (p.Thr2414Ser) c.7126A>T (p.Thr2376Ser) c.7195A>T (p.Thr2399Ser) c.6823A>T (p.Thr2275Ser) c.6979A>T (p.Thr2327Ser) c.7186A>T (p.Thr2396Ser) c.6487A>T (p.Thr2163Ser) c.7234A>T (p.Thr2412Ser)	dbSNP
16	g.3727807T>C	CA394550233	CREBBP	c.7240A>G (p.Thr2414Ala) c.7126A>G (p.Thr2376Ala) c.7195A>G (p.Thr2399Ala) c.6823A>G (p.Thr2275Ala) c.6979A>G (p.Thr2327Ala) c.7186A>G (p.Thr2396Ala) c.6487A>G (p.Thr2163Ala) c.7234A>G (p.Thr2412Ala)	dbSNP
16	g.3727807T>G	CA394550234	CREBBP	c.7240A>C (p.Thr2414Pro) c.7126A>C (p.Thr2376Pro) c.7195A>C (p.Thr2399Pro) c.6823A>C (p.Thr2275Pro) c.6979A>C (p.Thr2327Pro) c.7186A>C (p.Thr2396Pro) c.6487A>C (p.Thr2163Pro) c.7234A>C (p.Thr2412Pro)	dbSNP
16	g.3727808G>A	CA7868929	CREBBP	c.7239C>T (p.Asn2413=) c.7125C>T (p.Asn2375=) c.7194C>T (p.Asn2398=) c.6822C>T (p.Asn2274=) c.6978C>T (p.Asn2326=) c.7185C>T (p.Asn2395=) c.6486C>T (p.Asn2162=) c.7233C>T (p.Asn2411=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727808G>C	CA394550236	CREBBP	c.7239C>G (p.Asn2413Lys) c.7125C>G (p.Asn2375Lys) c.7194C>G (p.Asn2398Lys) c.6822C>G (p.Asn2274Lys) c.6978C>G (p.Asn2326Lys) c.7185C>G (p.Asn2395Lys) c.6486C>G (p.Asn2162Lys) c.7233C>G (p.Asn2411Lys)	dbSNP
16	g.3727808G=	CA2202928350	CREBBP	c.7239C= (p.Asn2413=) c.7125C= (p.Asn2375=) c.7194C= (p.Asn2398=) c.6822C= (p.Asn2274=) c.6978C= (p.Asn2326=) c.7185C= (p.Asn2395=) c.6486C= (p.Asn2162=) c.7233C= (p.Asn2411=)
16	g.3727808G>T	CA394550237	CREBBP	c.7239C>A (p.Asn2413Lys) c.7125C>A (p.Asn2375Lys) c.7194C>A (p.Asn2398Lys) c.6822C>A (p.Asn2274Lys) c.6978C>A (p.Asn2326Lys) c.7185C>A (p.Asn2395Lys) c.6486C>A (p.Asn2162Lys) c.7233C>A (p.Asn2411Lys)
16	g.3727809T>A	CA394550238	CREBBP	c.7238A>T (p.Asn2413Ile) c.7124A>T (p.Asn2375Ile) c.7193A>T (p.Asn2398Ile) c.6821A>T (p.Asn2274Ile) c.6977A>T (p.Asn2326Ile) c.7184A>T (p.Asn2395Ile) c.6485A>T (p.Asn2162Ile) c.7232A>T (p.Asn2411Ile)	dbSNP
16	g.3727809T>C	CA7868930	CREBBP	c.7238A>G (p.Asn2413Ser) c.7124A>G (p.Asn2375Ser) c.7193A>G (p.Asn2398Ser) c.6821A>G (p.Asn2274Ser) c.6977A>G (p.Asn2326Ser) c.7184A>G (p.Asn2395Ser) c.6485A>G (p.Asn2162Ser) c.7232A>G (p.Asn2411Ser)	dbSNP ExAC gnomAD v3 gnomAD v4
16	g.3727809T>G	CA394550239	CREBBP	c.7238A>C (p.Asn2413Thr) c.7124A>C (p.Asn2375Thr) c.7193A>C (p.Asn2398Thr) c.6821A>C (p.Asn2274Thr) c.6977A>C (p.Asn2326Thr) c.7184A>C (p.Asn2395Thr) c.6485A>C (p.Asn2162Thr) c.7232A>C (p.Asn2411Thr)	dbSNP
16	g.3727809T=	CA2202928351	CREBBP	c.7238A= (p.Asn2413=) c.7124A= (p.Asn2375=) c.7193A= (p.Asn2398=) c.6821A= (p.Asn2274=) c.6977A= (p.Asn2326=) c.7184A= (p.Asn2395=) c.6485A= (p.Asn2162=) c.7232A= (p.Asn2411=)
16	g.3727810T>A	CA394550240	CREBBP	c.7237A>T (p.Asn2413Tyr) c.7123A>T (p.Asn2375Tyr) c.7192A>T (p.Asn2398Tyr) c.6820A>T (p.Asn2274Tyr) c.6976A>T (p.Asn2326Tyr) c.7183A>T (p.Asn2395Tyr) c.6484A>T (p.Asn2162Tyr) c.7231A>T (p.Asn2411Tyr)	dbSNP
16	g.3727810T>C	CA394550241	CREBBP	c.7237A>G (p.Asn2413Asp) c.7123A>G (p.Asn2375Asp) c.7192A>G (p.Asn2398Asp) c.6820A>G (p.Asn2274Asp) c.6976A>G (p.Asn2326Asp) c.7183A>G (p.Asn2395Asp) c.6484A>G (p.Asn2162Asp) c.7231A>G (p.Asn2411Asp)	dbSNP
16	g.3727810T>G	CA394550242	CREBBP	c.7237A>C (p.Asn2413His) c.7123A>C (p.Asn2375His) c.7192A>C (p.Asn2398His) c.6820A>C (p.Asn2274His) c.6976A>C (p.Asn2326His) c.7183A>C (p.Asn2395His) c.6484A>C (p.Asn2162His) c.7231A>C (p.Asn2411His)	dbSNP
16	g.3727811C>A	CA493393172	CREBBP	c.7236G>T (p.Leu2412=) c.7122G>T (p.Leu2374=) c.7191G>T (p.Leu2397=) c.6819G>T (p.Leu2273=) c.6975G>T (p.Leu2325=) c.7182G>T (p.Leu2394=) c.6483G>T (p.Leu2161=) c.7230G>T (p.Leu2410=)
16	g.3727811C=	CA2202928352	CREBBP	c.7236G= (p.Leu2412=) c.7122G= (p.Leu2374=) c.7191G= (p.Leu2397=) c.6819G= (p.Leu2273=) c.6975G= (p.Leu2325=) c.7182G= (p.Leu2394=) c.6483G= (p.Leu2161=) c.7230G= (p.Leu2410=)
16	g.3727811C>G	CA493393174	CREBBP	c.7236G>C (p.Leu2412=) c.7122G>C (p.Leu2374=) c.7191G>C (p.Leu2397=) c.6819G>C (p.Leu2273=) c.6975G>C (p.Leu2325=) c.7182G>C (p.Leu2394=) c.6483G>C (p.Leu2161=) c.7230G>C (p.Leu2410=)	dbSNP gnomAD v4
16	g.3727811C>T	CA7868931	CREBBP	c.7236G>A (p.Leu2412=) c.7122G>A (p.Leu2374=) c.7191G>A (p.Leu2397=) c.6819G>A (p.Leu2273=) c.6975G>A (p.Leu2325=) c.7182G>A (p.Leu2394=) c.6483G>A (p.Leu2161=) c.7230G>A (p.Leu2410=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727812A>C	CA394550245	CREBBP	c.7235T>G (p.Leu2412Arg) c.7121T>G (p.Leu2374Arg) c.7190T>G (p.Leu2397Arg) c.6818T>G (p.Leu2273Arg) c.6974T>G (p.Leu2325Arg) c.7181T>G (p.Leu2394Arg) c.6482T>G (p.Leu2161Arg) c.7229T>G (p.Leu2410Arg)
16	g.3727812A>G	CA394550244	CREBBP	c.7235T>C (p.Leu2412Pro) c.7121T>C (p.Leu2374Pro) c.7190T>C (p.Leu2397Pro) c.6818T>C (p.Leu2273Pro) c.6974T>C (p.Leu2325Pro) c.7181T>C (p.Leu2394Pro) c.6482T>C (p.Leu2161Pro) c.7229T>C (p.Leu2410Pro)	dbSNP gnomAD v4
16	g.3727812A>T	CA394550243	CREBBP	c.7235T>A (p.Leu2412Gln) c.7121T>A (p.Leu2374Gln) c.7190T>A (p.Leu2397Gln) c.6818T>A (p.Leu2273Gln) c.6974T>A (p.Leu2325Gln) c.7181T>A (p.Leu2394Gln) c.6482T>A (p.Leu2161Gln) c.7229T>A (p.Leu2410Gln)	dbSNP
16	g.3727813G>A	CA276970991	CREBBP	c.7234C>T (p.Leu2412=) c.7120C>T (p.Leu2374=) c.7189C>T (p.Leu2397=) c.6817C>T (p.Leu2273=) c.6973C>T (p.Leu2325=) c.7180C>T (p.Leu2394=) c.6481C>T (p.Leu2161=) c.7228C>T (p.Leu2410=)	dbSNP gnomAD v3 gnomAD v4
16	g.3727813G>C	CA394550246	CREBBP	c.7234C>G (p.Leu2412Val) c.7120C>G (p.Leu2374Val) c.7189C>G (p.Leu2397Val) c.6817C>G (p.Leu2273Val) c.6973C>G (p.Leu2325Val) c.7180C>G (p.Leu2394Val) c.6481C>G (p.Leu2161Val) c.7228C>G (p.Leu2410Val)	dbSNP
16	g.3727813G=	CA2202928353	CREBBP	c.7234C= (p.Leu2412=) c.7120C= (p.Leu2374=) c.7189C= (p.Leu2397=) c.6817C= (p.Leu2273=) c.6973C= (p.Leu2325=) c.7180C= (p.Leu2394=) c.6481C= (p.Leu2161=) c.7228C= (p.Leu2410=)
16	g.3727813G>T	CA394550247	CREBBP	c.7234C>A (p.Leu2412Met) c.7120C>A (p.Leu2374Met) c.7189C>A (p.Leu2397Met) c.6817C>A (p.Leu2273Met) c.6973C>A (p.Leu2325Met) c.7180C>A (p.Leu2394Met) c.6481C>A (p.Leu2161Met) c.7228C>A (p.Leu2410Met)
16	g.3727814C>A	CA394550248	CREBBP	c.7233G>T (p.Gln2411His) c.7119G>T (p.Gln2373His) c.7188G>T (p.Gln2396His) c.6816G>T (p.Gln2272His) c.6972G>T (p.Gln2324His) c.7179G>T (p.Gln2393His) c.6480G>T (p.Gln2160His) c.7227G>T (p.Gln2409His)	dbSNP
16	g.3727814C=	CA2202928354	CREBBP	c.7233G= (p.Gln2411=) c.7119G= (p.Gln2373=) c.7188G= (p.Gln2396=) c.6816G= (p.Gln2272=) c.6972G= (p.Gln2324=) c.7179G= (p.Gln2393=) c.6480G= (p.Gln2160=) c.7227G= (p.Gln2409=)
16	g.3727814C>G	CA394550249	CREBBP	c.7233G>C (p.Gln2411His) c.7119G>C (p.Gln2373His) c.7188G>C (p.Gln2396His) c.6816G>C (p.Gln2272His) c.6972G>C (p.Gln2324His) c.7179G>C (p.Gln2393His) c.6480G>C (p.Gln2160His) c.7227G>C (p.Gln2409His)	dbSNP
16	g.3727814C>T	CA493393180	CREBBP	c.7233G>A (p.Gln2411=) c.7119G>A (p.Gln2373=) c.7188G>A (p.Gln2396=) c.6816G>A (p.Gln2272=) c.6972G>A (p.Gln2324=) c.7179G>A (p.Gln2393=) c.6480G>A (p.Gln2160=) c.7227G>A (p.Gln2409=)	dbSNP gnomAD v2 gnomAD v4
16	g.3727815T>A	CA394550250	CREBBP	c.7232A>T (p.Gln2411Leu) c.7118A>T (p.Gln2373Leu) c.7187A>T (p.Gln2396Leu) c.6815A>T (p.Gln2272Leu) c.6971A>T (p.Gln2324Leu) c.7178A>T (p.Gln2393Leu) c.6479A>T (p.Gln2160Leu) c.7226A>T (p.Gln2409Leu)
16	g.3727815T>C	CA394550251	CREBBP	c.7232A>G (p.Gln2411Arg) c.7118A>G (p.Gln2373Arg) c.7187A>G (p.Gln2396Arg) c.6815A>G (p.Gln2272Arg) c.6971A>G (p.Gln2324Arg) c.7178A>G (p.Gln2393Arg) c.6479A>G (p.Gln2160Arg) c.7226A>G (p.Gln2409Arg)
16	g.3727815T>G	CA394550252	CREBBP	c.7232A>C (p.Gln2411Pro) c.7118A>C (p.Gln2373Pro) c.7187A>C (p.Gln2396Pro) c.6815A>C (p.Gln2272Pro) c.6971A>C (p.Gln2324Pro) c.7178A>C (p.Gln2393Pro) c.6479A>C (p.Gln2160Pro) c.7226A>C (p.Gln2409Pro)
16	g.3727816G>A	CA394550253	CREBBP	c.7231C>T (p.Gln2411Ter) c.7117C>T (p.Gln2373Ter) c.7186C>T (p.Gln2396Ter) c.6814C>T (p.Gln2272Ter) c.6970C>T (p.Gln2324Ter) c.7177C>T (p.Gln2393Ter) c.6478C>T (p.Gln2160Ter) c.7225C>T (p.Gln2409Ter)	dbSNP
16	g.3727816G>C	CA394550254	CREBBP	c.7231C>G (p.Gln2411Glu) c.7117C>G (p.Gln2373Glu) c.7186C>G (p.Gln2396Glu) c.6814C>G (p.Gln2272Glu) c.6970C>G (p.Gln2324Glu) c.7177C>G (p.Gln2393Glu) c.6478C>G (p.Gln2160Glu) c.7225C>G (p.Gln2409Glu)	dbSNP gnomAD v2 gnomAD v4
16	g.3727816G=	CA2202928355	CREBBP	c.7231C= (p.Gln2411=) c.7117C= (p.Gln2373=) c.7186C= (p.Gln2396=) c.6814C= (p.Gln2272=) c.6970C= (p.Gln2324=) c.7177C= (p.Gln2393=) c.6478C= (p.Gln2160=) c.7225C= (p.Gln2409=)
16	g.3727816G>T	CA394550255	CREBBP	c.7231C>A (p.Gln2411Lys) c.7117C>A (p.Gln2373Lys) c.7186C>A (p.Gln2396Lys) c.6814C>A (p.Gln2272Lys) c.6970C>A (p.Gln2324Lys) c.7177C>A (p.Gln2393Lys) c.6478C>A (p.Gln2160Lys) c.7225C>A (p.Gln2409Lys)	dbSNP gnomAD v4
16	g.3727820del	CA493393188	CREBBP	c.7231del (p.Gln2411SerfsTer2) c.7117del (p.Gln2373SerfsTer2) c.7186del (p.Gln2396SerfsTer2) c.6814del (p.Gln2272SerfsTer2) c.6970del (p.Gln2324SerfsTer2) c.7177del (p.Gln2393SerfsTer2) c.6478del (p.Gln2160SerfsTer2) c.7225del (p.Gln2409SerfsTer2)	COSMIC
16	g.3727817G>A	CA276970999	CREBBP	c.7230C>T (p.Pro2410=) c.7116C>T (p.Pro2372=) c.7185C>T (p.Pro2395=) c.6813C>T (p.Pro2271=) c.6969C>T (p.Pro2323=) c.7176C>T (p.Pro2392=) c.6477C>T (p.Pro2159=) c.7224C>T (p.Pro2408=)	dbSNP gnomAD v3 gnomAD v4
16	g.3727817G>C	CA493393189	CREBBP	c.7230C>G (p.Pro2410=) c.7116C>G (p.Pro2372=) c.7185C>G (p.Pro2395=) c.6813C>G (p.Pro2271=) c.6969C>G (p.Pro2323=) c.7176C>G (p.Pro2392=) c.6477C>G (p.Pro2159=) c.7224C>G (p.Pro2408=)	dbSNP gnomAD v3 gnomAD v4
16	g.3727817G=	CA2202928356	CREBBP	c.7230C= (p.Pro2410=) c.7116C= (p.Pro2372=) c.7185C= (p.Pro2395=) c.6813C= (p.Pro2271=) c.6969C= (p.Pro2323=) c.7176C= (p.Pro2392=) c.6477C= (p.Pro2159=) c.7224C= (p.Pro2408=)
16	g.3727817G>T	CA493393191	CREBBP	c.7230C>A (p.Pro2410=) c.7116C>A (p.Pro2372=) c.7185C>A (p.Pro2395=) c.6813C>A (p.Pro2271=) c.6969C>A (p.Pro2323=) c.7176C>A (p.Pro2392=) c.6477C>A (p.Pro2159=) c.7224C>A (p.Pro2408=)	dbSNP
16	g.3727818G>A	CA394550256	CREBBP	c.7229C>T (p.Pro2410Leu) c.7115C>T (p.Pro2372Leu) c.7184C>T (p.Pro2395Leu) c.6812C>T (p.Pro2271Leu) c.6968C>T (p.Pro2323Leu) c.7175C>T (p.Pro2392Leu) c.6476C>T (p.Pro2159Leu) c.7223C>T (p.Pro2408Leu)	dbSNP
16	g.3727818G>C	CA394550257	CREBBP	c.7229C>G (p.Pro2410Arg) c.7115C>G (p.Pro2372Arg) c.7184C>G (p.Pro2395Arg) c.6812C>G (p.Pro2271Arg) c.6968C>G (p.Pro2323Arg) c.7175C>G (p.Pro2392Arg) c.6476C>G (p.Pro2159Arg) c.7223C>G (p.Pro2408Arg)	dbSNP
16	g.3727818G>T	CA394550258	CREBBP	c.7229C>A (p.Pro2410His) c.7115C>A (p.Pro2372His) c.7184C>A (p.Pro2395His) c.6812C>A (p.Pro2271His) c.6968C>A (p.Pro2323His) c.7175C>A (p.Pro2392His) c.6476C>A (p.Pro2159His) c.7223C>A (p.Pro2408His)	dbSNP
16	g.3727819G>A	CA394550261	CREBBP	c.7228C>T (p.Pro2410Ser) c.7114C>T (p.Pro2372Ser) c.7183C>T (p.Pro2395Ser) c.6811C>T (p.Pro2271Ser) c.6967C>T (p.Pro2323Ser) c.7174C>T (p.Pro2392Ser) c.6475C>T (p.Pro2159Ser) c.7222C>T (p.Pro2408Ser)	dbSNP gnomAD v4
16	g.3727819G>C	CA394550259	CREBBP	c.7228C>G (p.Pro2410Ala) c.7114C>G (p.Pro2372Ala) c.7183C>G (p.Pro2395Ala) c.6811C>G (p.Pro2271Ala) c.6967C>G (p.Pro2323Ala) c.7174C>G (p.Pro2392Ala) c.6475C>G (p.Pro2159Ala) c.7222C>G (p.Pro2408Ala)	dbSNP
16	g.3727819G>T	CA394550260	CREBBP	c.7228C>A (p.Pro2410Thr) c.7114C>A (p.Pro2372Thr) c.7183C>A (p.Pro2395Thr) c.6811C>A (p.Pro2271Thr) c.6967C>A (p.Pro2323Thr) c.7174C>A (p.Pro2392Thr) c.6475C>A (p.Pro2159Thr) c.7222C>A (p.Pro2408Thr)	dbSNP
16	g.3727820G>A	CA276971001	CREBBP	c.7227C>T (p.Leu2409=) c.7113C>T (p.Leu2371=) c.7182C>T (p.Leu2394=) c.6810C>T (p.Leu2270=) c.6966C>T (p.Leu2322=) c.7173C>T (p.Leu2391=) c.6474C>T (p.Leu2158=) c.7221C>T (p.Leu2407=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727820G>C	CA493393195	CREBBP	c.7227C>G (p.Leu2409=) c.7113C>G (p.Leu2371=) c.7182C>G (p.Leu2394=) c.6810C>G (p.Leu2270=) c.6966C>G (p.Leu2322=) c.7173C>G (p.Leu2391=) c.6474C>G (p.Leu2158=) c.7221C>G (p.Leu2407=)
16	g.3727820G=	CA2202928357	CREBBP	c.7227C= (p.Leu2409=) c.7113C= (p.Leu2371=) c.7182C= (p.Leu2394=) c.6810C= (p.Leu2270=) c.6966C= (p.Leu2322=) c.7173C= (p.Leu2391=) c.6474C= (p.Leu2158=) c.7221C= (p.Leu2407=)
16	g.3727820G>T	CA493393196	CREBBP	c.7227C>A (p.Leu2409=) c.7113C>A (p.Leu2371=) c.7182C>A (p.Leu2394=) c.6810C>A (p.Leu2270=) c.6966C>A (p.Leu2322=) c.7173C>A (p.Leu2391=) c.6474C>A (p.Leu2158=) c.7221C>A (p.Leu2407=)
16	g.3727821A>C	CA394550262	CREBBP	c.7226T>G (p.Leu2409Arg) c.7112T>G (p.Leu2371Arg) c.7181T>G (p.Leu2394Arg) c.6809T>G (p.Leu2270Arg) c.6965T>G (p.Leu2322Arg) c.7172T>G (p.Leu2391Arg) c.6473T>G (p.Leu2158Arg) c.7220T>G (p.Leu2407Arg)
16	g.3727821A>G	CA394550263	CREBBP	c.7226T>C (p.Leu2409Pro) c.7112T>C (p.Leu2371Pro) c.7181T>C (p.Leu2394Pro) c.6809T>C (p.Leu2270Pro) c.6965T>C (p.Leu2322Pro) c.7172T>C (p.Leu2391Pro) c.6473T>C (p.Leu2158Pro) c.7220T>C (p.Leu2407Pro)	dbSNP gnomAD v4
16	g.3727821A>T	CA394550264	CREBBP	c.7226T>A (p.Leu2409His) c.7112T>A (p.Leu2371His) c.7181T>A (p.Leu2394His) c.6809T>A (p.Leu2270His) c.6965T>A (p.Leu2322His) c.7172T>A (p.Leu2391His) c.6473T>A (p.Leu2158His) c.7220T>A (p.Leu2407His)	dbSNP
16	g.3727822G>A	CA394550265	CREBBP	c.7225C>T (p.Leu2409Phe) c.7111C>T (p.Leu2371Phe) c.7180C>T (p.Leu2394Phe) c.6808C>T (p.Leu2270Phe) c.6964C>T (p.Leu2322Phe) c.7171C>T (p.Leu2391Phe) c.6472C>T (p.Leu2158Phe) c.7219C>T (p.Leu2407Phe)	dbSNP
16	g.3727822G>C	CA394550266	CREBBP	c.7225C>G (p.Leu2409Val) c.7111C>G (p.Leu2371Val) c.7180C>G (p.Leu2394Val) c.6808C>G (p.Leu2270Val) c.6964C>G (p.Leu2322Val) c.7171C>G (p.Leu2391Val) c.6472C>G (p.Leu2158Val) c.7219C>G (p.Leu2407Val)	dbSNP
16	g.3727822G>T	CA394550267	CREBBP	c.7225C>A (p.Leu2409Ile) c.7111C>A (p.Leu2371Ile) c.7180C>A (p.Leu2394Ile) c.6808C>A (p.Leu2270Ile) c.6964C>A (p.Leu2322Ile) c.7171C>A (p.Leu2391Ile) c.6472C>A (p.Leu2158Ile) c.7219C>A (p.Leu2407Ile)
16	g.3727825_3727829del	CA2695197438	CREBBP	c.7221_7225del (p.Met2408ProfsTer?) c.7107_7111del (p.Met2370ProfsTer?) c.7176_7180del (p.Met2393ProfsTer?) c.6804_6808del (p.Met2269ProfsTer?) c.6960_6964del (p.Met2321ProfsTer?) c.7167_7171del (p.Met2390ProfsTer?) c.6468_6472del (p.Met2157ProfsTer?) c.7215_7219del (p.Met2406ProfsTer?)	ClinVar
16	g.3727823C>A	CA394550268	CREBBP	c.7224G>T (p.Met2408Ile) c.7110G>T (p.Met2370Ile) c.7179G>T (p.Met2393Ile) c.6807G>T (p.Met2269Ile) c.6963G>T (p.Met2321Ile) c.7170G>T (p.Met2390Ile) c.6471G>T (p.Met2157Ile) c.7218G>T (p.Met2406Ile)	dbSNP
16	g.3727823C=	CA2202928358	CREBBP	c.7224G= (p.Met2408=) c.7110G= (p.Met2370=) c.7179G= (p.Met2393=) c.6807G= (p.Met2269=) c.6963G= (p.Met2321=) c.7170G= (p.Met2390=) c.6471G= (p.Met2157=) c.7218G= (p.Met2406=)
16	g.3727823C>G	CA394550269	CREBBP	c.7224G>C (p.Met2408Ile) c.7110G>C (p.Met2370Ile) c.7179G>C (p.Met2393Ile) c.6807G>C (p.Met2269Ile) c.6963G>C (p.Met2321Ile) c.7170G>C (p.Met2390Ile) c.6471G>C (p.Met2157Ile) c.7218G>C (p.Met2406Ile)	dbSNP gnomAD v3 gnomAD v4
16	g.3727823C>T	CA394550270	CREBBP	c.7224G>A (p.Met2408Ile) c.7110G>A (p.Met2370Ile) c.7179G>A (p.Met2393Ile) c.6807G>A (p.Met2269Ile) c.6963G>A (p.Met2321Ile) c.7170G>A (p.Met2390Ile) c.6471G>A (p.Met2157Ile) c.7218G>A (p.Met2406Ile)	ClinVar dbSNP
16	g.3727824A>C	CA394550271	CREBBP	c.7223T>G (p.Met2408Arg) c.7109T>G (p.Met2370Arg) c.7178T>G (p.Met2393Arg) c.6806T>G (p.Met2269Arg) c.6962T>G (p.Met2321Arg) c.7169T>G (p.Met2390Arg) c.6470T>G (p.Met2157Arg) c.7217T>G (p.Met2406Arg)
16	g.3727824A>G	CA394550272	CREBBP	c.7223T>C (p.Met2408Thr) c.7109T>C (p.Met2370Thr) c.7178T>C (p.Met2393Thr) c.6806T>C (p.Met2269Thr) c.6962T>C (p.Met2321Thr) c.7169T>C (p.Met2390Thr) c.6470T>C (p.Met2157Thr) c.7217T>C (p.Met2406Thr)
16	g.3727824A>T	CA394550273	CREBBP	c.7223T>A (p.Met2408Lys) c.7109T>A (p.Met2370Lys) c.7178T>A (p.Met2393Lys) c.6806T>A (p.Met2269Lys) c.6962T>A (p.Met2321Lys) c.7169T>A (p.Met2390Lys) c.6470T>A (p.Met2157Lys) c.7217T>A (p.Met2406Lys)
16	g.3727825T>A	CA394550274	CREBBP	c.7222A>T (p.Met2408Leu) c.7108A>T (p.Met2370Leu) c.7177A>T (p.Met2393Leu) c.6805A>T (p.Met2269Leu) c.6961A>T (p.Met2321Leu) c.7168A>T (p.Met2390Leu) c.6469A>T (p.Met2157Leu) c.7216A>T (p.Met2406Leu)	dbSNP gnomAD v4
16	g.3727825T>C	CA7868932	CREBBP	c.7222A>G (p.Met2408Val) c.7108A>G (p.Met2370Val) c.7177A>G (p.Met2393Val) c.6805A>G (p.Met2269Val) c.6961A>G (p.Met2321Val) c.7168A>G (p.Met2390Val) c.6469A>G (p.Met2157Val) c.7216A>G (p.Met2406Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727825T>G	CA7868933	CREBBP	c.7222A>C (p.Met2408Leu) c.7108A>C (p.Met2370Leu) c.7177A>C (p.Met2393Leu) c.6805A>C (p.Met2269Leu) c.6961A>C (p.Met2321Leu) c.7168A>C (p.Met2390Leu) c.6469A>C (p.Met2157Leu) c.7216A>C (p.Met2406Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727825T=	CA2202928359	CREBBP	c.7222A= (p.Met2408=) c.7108A= (p.Met2370=) c.7177A= (p.Met2393=) c.6805A= (p.Met2269=) c.6961A= (p.Met2321=) c.7168A= (p.Met2390=) c.6469A= (p.Met2157=) c.7216A= (p.Met2406=)
16	g.3727826T>A	CA493393202	CREBBP	c.7221A>T (p.Ala2407=) c.7107A>T (p.Ala2369=) c.7176A>T (p.Ala2392=) c.6804A>T (p.Ala2268=) c.6960A>T (p.Ala2320=) c.7167A>T (p.Ala2389=) c.6468A>T (p.Ala2156=) c.7215A>T (p.Ala2405=)	dbSNP
16	g.3727826T>C	CA493393203	CREBBP	c.7221A>G (p.Ala2407=) c.7107A>G (p.Ala2369=) c.7176A>G (p.Ala2392=) c.6804A>G (p.Ala2268=) c.6960A>G (p.Ala2320=) c.7167A>G (p.Ala2389=) c.6468A>G (p.Ala2156=) c.7215A>G (p.Ala2405=)
16	g.3727826T>G	CA493393204	CREBBP	c.7221A>C (p.Ala2407=) c.7107A>C (p.Ala2369=) c.7176A>C (p.Ala2392=) c.6804A>C (p.Ala2268=) c.6960A>C (p.Ala2320=) c.7167A>C (p.Ala2389=) c.6468A>C (p.Ala2156=) c.7215A>C (p.Ala2405=)	dbSNP gnomAD v4
16	g.3727827G>A	CA394550276	CREBBP	c.7220C>T (p.Ala2407Val) c.7106C>T (p.Ala2369Val) c.7175C>T (p.Ala2392Val) c.6803C>T (p.Ala2268Val) c.6959C>T (p.Ala2320Val) c.7166C>T (p.Ala2389Val) c.6467C>T (p.Ala2156Val) c.7214C>T (p.Ala2405Val)	dbSNP
16	g.3727827G>C	CA394550275	CREBBP	c.7220C>G (p.Ala2407Gly) c.7106C>G (p.Ala2369Gly) c.7175C>G (p.Ala2392Gly) c.6803C>G (p.Ala2268Gly) c.6959C>G (p.Ala2320Gly) c.7166C>G (p.Ala2389Gly) c.6467C>G (p.Ala2156Gly) c.7214C>G (p.Ala2405Gly)	dbSNP
16	g.3727827G>T	CA394550277	CREBBP	c.7220C>A (p.Ala2407Glu) c.7106C>A (p.Ala2369Glu) c.7175C>A (p.Ala2392Glu) c.6803C>A (p.Ala2268Glu) c.6959C>A (p.Ala2320Glu) c.7166C>A (p.Ala2389Glu) c.6467C>A (p.Ala2156Glu) c.7214C>A (p.Ala2405Glu)
16	g.3727828C>A	CA394550278	CREBBP	c.7219G>T (p.Ala2407Ser) c.7105G>T (p.Ala2369Ser) c.7174G>T (p.Ala2392Ser) c.6802G>T (p.Ala2268Ser) c.6958G>T (p.Ala2320Ser) c.7165G>T (p.Ala2389Ser) c.6466G>T (p.Ala2156Ser) c.7213G>T (p.Ala2405Ser)	dbSNP
16	g.3727828C>G	CA394550279	CREBBP	c.7219G>C (p.Ala2407Pro) c.7105G>C (p.Ala2369Pro) c.7174G>C (p.Ala2392Pro) c.6802G>C (p.Ala2268Pro) c.6958G>C (p.Ala2320Pro) c.7165G>C (p.Ala2389Pro) c.6466G>C (p.Ala2156Pro) c.7213G>C (p.Ala2405Pro)	dbSNP
16	g.3727828C>T	CA394550280	CREBBP	c.7219G>A (p.Ala2407Thr) c.7105G>A (p.Ala2369Thr) c.7174G>A (p.Ala2392Thr) c.6802G>A (p.Ala2268Thr) c.6958G>A (p.Ala2320Thr) c.7165G>A (p.Ala2389Thr) c.6466G>A (p.Ala2156Thr) c.7213G>A (p.Ala2405Thr)	dbSNP gnomAD v4
16	g.3727829A>C	CA394550281	CREBBP	c.7218T>G (p.Ser2406Arg) c.7104T>G (p.Ser2368Arg) c.7173T>G (p.Ser2391Arg) c.6801T>G (p.Ser2267Arg) c.6957T>G (p.Ser2319Arg) c.7164T>G (p.Ser2388Arg) c.6465T>G (p.Ser2155Arg) c.7212T>G (p.Ser2404Arg)	dbSNP
16	g.3727829A>G	CA493393209	CREBBP	c.7218T>C (p.Ser2406=) c.7104T>C (p.Ser2368=) c.7173T>C (p.Ser2391=) c.6801T>C (p.Ser2267=) c.6957T>C (p.Ser2319=) c.7164T>C (p.Ser2388=) c.6465T>C (p.Ser2155=) c.7212T>C (p.Ser2404=)
16	g.3727829A>T	CA394550282	CREBBP	c.7218T>A (p.Ser2406Arg) c.7104T>A (p.Ser2368Arg) c.7173T>A (p.Ser2391Arg) c.6801T>A (p.Ser2267Arg) c.6957T>A (p.Ser2319Arg) c.7164T>A (p.Ser2388Arg) c.6465T>A (p.Ser2155Arg) c.7212T>A (p.Ser2404Arg)	dbSNP
16	g.3727830C>A	CA394550283	CREBBP	c.7217G>T (p.Ser2406Ile) c.7103G>T (p.Ser2368Ile) c.7172G>T (p.Ser2391Ile) c.6800G>T (p.Ser2267Ile) c.6956G>T (p.Ser2319Ile) c.7163G>T (p.Ser2388Ile) c.6464G>T (p.Ser2155Ile) c.7211G>T (p.Ser2404Ile)	dbSNP
16	g.3727830C>G	CA394550284	CREBBP	c.7217G>C (p.Ser2406Thr) c.7103G>C (p.Ser2368Thr) c.7172G>C (p.Ser2391Thr) c.6800G>C (p.Ser2267Thr) c.6956G>C (p.Ser2319Thr) c.7163G>C (p.Ser2388Thr) c.6464G>C (p.Ser2155Thr) c.7211G>C (p.Ser2404Thr)	dbSNP gnomAD v3 gnomAD v4
16	g.3727830C>T	CA394550285	CREBBP	c.7217G>A (p.Ser2406Asn) c.7103G>A (p.Ser2368Asn) c.7172G>A (p.Ser2391Asn) c.6800G>A (p.Ser2267Asn) c.6956G>A (p.Ser2319Asn) c.7163G>A (p.Ser2388Asn) c.6464G>A (p.Ser2155Asn) c.7211G>A (p.Ser2404Asn)	dbSNP
16	g.3727831T>A	CA394550286	CREBBP	c.7216A>T (p.Ser2406Cys) c.7102A>T (p.Ser2368Cys) c.7171A>T (p.Ser2391Cys) c.6799A>T (p.Ser2267Cys) c.6955A>T (p.Ser2319Cys) c.7162A>T (p.Ser2388Cys) c.6463A>T (p.Ser2155Cys) c.7210A>T (p.Ser2404Cys)
16	g.3727831T>C	CA394550287	CREBBP	c.7216A>G (p.Ser2406Gly) c.7102A>G (p.Ser2368Gly) c.7171A>G (p.Ser2391Gly) c.6799A>G (p.Ser2267Gly) c.6955A>G (p.Ser2319Gly) c.7162A>G (p.Ser2388Gly) c.6463A>G (p.Ser2155Gly) c.7210A>G (p.Ser2404Gly)	dbSNP
16	g.3727831T>G	CA394550288	CREBBP	c.7216A>C (p.Ser2406Arg) c.7102A>C (p.Ser2368Arg) c.7171A>C (p.Ser2391Arg) c.6799A>C (p.Ser2267Arg) c.6955A>C (p.Ser2319Arg) c.7162A>C (p.Ser2388Arg) c.6463A>C (p.Ser2155Arg) c.7210A>C (p.Ser2404Arg)
16	g.3727832C>A	CA394550290	CREBBP	c.7215G>T (p.Gln2405His) c.7101G>T (p.Gln2367His) c.7170G>T (p.Gln2390His) c.6798G>T (p.Gln2266His) c.6954G>T (p.Gln2318His) c.7161G>T (p.Gln2387His) c.6462G>T (p.Gln2154His) c.7209G>T (p.Gln2403His)	COSMIC
16	g.3727832C=	CA2202928360	CREBBP	c.7215G= (p.Gln2405=) c.7101G= (p.Gln2367=) c.7170G= (p.Gln2390=) c.6798G= (p.Gln2266=) c.6954G= (p.Gln2318=) c.7161G= (p.Gln2387=) c.6462G= (p.Gln2154=) c.7209G= (p.Gln2403=)
16	g.3727832C>G	CA394550289	CREBBP	c.7215G>C (p.Gln2405His) c.7101G>C (p.Gln2367His) c.7170G>C (p.Gln2390His) c.6798G>C (p.Gln2266His) c.6954G>C (p.Gln2318His) c.7161G>C (p.Gln2387His) c.6462G>C (p.Gln2154His) c.7209G>C (p.Gln2403His)	dbSNP
16	g.3727832C>T	CA493393213	CREBBP	c.7215G>A (p.Gln2405=) c.7101G>A (p.Gln2367=) c.7170G>A (p.Gln2390=) c.6798G>A (p.Gln2266=) c.6954G>A (p.Gln2318=) c.7161G>A (p.Gln2387=) c.6462G>A (p.Gln2154=) c.7209G>A (p.Gln2403=)	dbSNP
16	g.3727833T>A	CA394550291	CREBBP	c.7214A>T (p.Gln2405Leu) c.7100A>T (p.Gln2367Leu) c.7169A>T (p.Gln2390Leu) c.6797A>T (p.Gln2266Leu) c.6953A>T (p.Gln2318Leu) c.7160A>T (p.Gln2387Leu) c.6461A>T (p.Gln2154Leu) c.7208A>T (p.Gln2403Leu)
16	g.3727833T>C	CA394550292	CREBBP	c.7214A>G (p.Gln2405Arg) c.7100A>G (p.Gln2367Arg) c.7169A>G (p.Gln2390Arg) c.6797A>G (p.Gln2266Arg) c.6953A>G (p.Gln2318Arg) c.7160A>G (p.Gln2387Arg) c.6461A>G (p.Gln2154Arg) c.7208A>G (p.Gln2403Arg)
16	g.3727833T>G	CA394550293	CREBBP	c.7214A>C (p.Gln2405Pro) c.7100A>C (p.Gln2367Pro) c.7169A>C (p.Gln2390Pro) c.6797A>C (p.Gln2266Pro) c.6953A>C (p.Gln2318Pro) c.7160A>C (p.Gln2387Pro) c.6461A>C (p.Gln2154Pro) c.7208A>C (p.Gln2403Pro)
16	g.3727834G>A	CA394550294	CREBBP	c.7213C>T (p.Gln2405Ter) c.7099C>T (p.Gln2367Ter) c.7168C>T (p.Gln2390Ter) c.6796C>T (p.Gln2266Ter) c.6952C>T (p.Gln2318Ter) c.7159C>T (p.Gln2387Ter) c.6460C>T (p.Gln2154Ter) c.7207C>T (p.Gln2403Ter)	dbSNP
16	g.3727834G>C	CA394550295	CREBBP	c.7213C>G (p.Gln2405Glu) c.7099C>G (p.Gln2367Glu) c.7168C>G (p.Gln2390Glu) c.6796C>G (p.Gln2266Glu) c.6952C>G (p.Gln2318Glu) c.7159C>G (p.Gln2387Glu) c.6460C>G (p.Gln2154Glu) c.7207C>G (p.Gln2403Glu)	ClinVar dbSNP
16	g.3727834G>T	CA394550296	CREBBP	c.7213C>A (p.Gln2405Lys) c.7099C>A (p.Gln2367Lys) c.7168C>A (p.Gln2390Lys) c.6796C>A (p.Gln2266Lys) c.6952C>A (p.Gln2318Lys) c.7159C>A (p.Gln2387Lys) c.6460C>A (p.Gln2154Lys) c.7207C>A (p.Gln2403Lys)	dbSNP
16	g.3727835T>A	CA394550297	CREBBP	c.7212A>T (p.Glu2404Asp) c.7098A>T (p.Glu2366Asp) c.7167A>T (p.Glu2389Asp) c.6795A>T (p.Glu2265Asp) c.6951A>T (p.Glu2317Asp) c.7158A>T (p.Glu2386Asp) c.6459A>T (p.Glu2153Asp) c.7206A>T (p.Glu2402Asp)	dbSNP
16	g.3727835T>C	CA148150	CREBBP	c.7212A>G (p.Glu2404=) c.7098A>G (p.Glu2366=) c.7167A>G (p.Glu2389=) c.6795A>G (p.Glu2265=) c.6951A>G (p.Glu2317=) c.7158A>G (p.Glu2386=) c.6459A>G (p.Glu2153=) c.7206A>G (p.Glu2402=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727835T>G	CA394550298	CREBBP	c.7212A>C (p.Glu2404Asp) c.7098A>C (p.Glu2366Asp) c.7167A>C (p.Glu2389Asp) c.6795A>C (p.Glu2265Asp) c.6951A>C (p.Glu2317Asp) c.7158A>C (p.Glu2386Asp) c.6459A>C (p.Glu2153Asp) c.7206A>C (p.Glu2402Asp)	dbSNP
16	g.3727835T=	CA2202928361	CREBBP	c.7212A= (p.Glu2404=) c.7098A= (p.Glu2366=) c.7167A= (p.Glu2389=) c.6795A= (p.Glu2265=) c.6951A= (p.Glu2317=) c.7158A= (p.Glu2386=) c.6459A= (p.Glu2153=) c.7206A= (p.Glu2402=)
16	g.3727836T>A	CA394550299	CREBBP	c.7211A>T (p.Glu2404Val) c.7097A>T (p.Glu2366Val) c.7166A>T (p.Glu2389Val) c.6794A>T (p.Glu2265Val) c.6950A>T (p.Glu2317Val) c.7157A>T (p.Glu2386Val) c.6458A>T (p.Glu2153Val) c.7205A>T (p.Glu2402Val)	dbSNP
16	g.3727836T>C	CA394550300	CREBBP	c.7211A>G (p.Glu2404Gly) c.7097A>G (p.Glu2366Gly) c.7166A>G (p.Glu2389Gly) c.6794A>G (p.Glu2265Gly) c.6950A>G (p.Glu2317Gly) c.7157A>G (p.Glu2386Gly) c.6458A>G (p.Glu2153Gly) c.7205A>G (p.Glu2402Gly)	dbSNP
16	g.3727836T>G	CA394550301	CREBBP	c.7211A>C (p.Glu2404Ala) c.7097A>C (p.Glu2366Ala) c.7166A>C (p.Glu2389Ala) c.6794A>C (p.Glu2265Ala) c.6950A>C (p.Glu2317Ala) c.7157A>C (p.Glu2386Ala) c.6458A>C (p.Glu2153Ala) c.7205A>C (p.Glu2402Ala)	dbSNP
16	g.3727837C>A	CA394550302	CREBBP	c.7210G>T (p.Glu2404Ter) c.7096G>T (p.Glu2366Ter) c.7165G>T (p.Glu2389Ter) c.6793G>T (p.Glu2265Ter) c.6949G>T (p.Glu2317Ter) c.7156G>T (p.Glu2386Ter) c.6457G>T (p.Glu2153Ter) c.7204G>T (p.Glu2402Ter)	dbSNP
16	g.3727837C=	CA2202928362	CREBBP	c.7210G= (p.Glu2404=) c.7096G= (p.Glu2366=) c.7165G= (p.Glu2389=) c.6793G= (p.Glu2265=) c.6949G= (p.Glu2317=) c.7156G= (p.Glu2386=) c.6457G= (p.Glu2153=) c.7204G= (p.Glu2402=)
16	g.3727837C>G	CA394550303	CREBBP	c.7210G>C (p.Glu2404Gln) c.7096G>C (p.Glu2366Gln) c.7165G>C (p.Glu2389Gln) c.6793G>C (p.Glu2265Gln) c.6949G>C (p.Glu2317Gln) c.7156G>C (p.Glu2386Gln) c.6457G>C (p.Glu2153Gln) c.7204G>C (p.Glu2402Gln)	dbSNP
16	g.3727837C>T	CA279194	CREBBP	c.7210G>A (p.Glu2404Lys) c.7096G>A (p.Glu2366Lys) c.7165G>A (p.Glu2389Lys) c.6793G>A (p.Glu2265Lys) c.6949G>A (p.Glu2317Lys) c.7156G>A (p.Glu2386Lys) c.6457G>A (p.Glu2153Lys) c.7204G>A (p.Glu2402Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3727838G>A	CA7868934	CREBBP	c.7209C>T (p.Pro2403=) c.7095C>T (p.Pro2365=) c.7164C>T (p.Pro2388=) c.6792C>T (p.Pro2264=) c.6948C>T (p.Pro2316=) c.7155C>T (p.Pro2385=) c.6456C>T (p.Pro2152=) c.7203C>T (p.Pro2401=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727838G>C	CA493393219	CREBBP	c.7209C>G (p.Pro2403=) c.7095C>G (p.Pro2365=) c.7164C>G (p.Pro2388=) c.6792C>G (p.Pro2264=) c.6948C>G (p.Pro2316=) c.7155C>G (p.Pro2385=) c.6456C>G (p.Pro2152=) c.7203C>G (p.Pro2401=)	dbSNP gnomAD v3 gnomAD v4
16	g.3727838G=	CA2202928363	CREBBP	c.7209C= (p.Pro2403=) c.7095C= (p.Pro2365=) c.7164C= (p.Pro2388=) c.6792C= (p.Pro2264=) c.6948C= (p.Pro2316=) c.7155C= (p.Pro2385=) c.6456C= (p.Pro2152=) c.7203C= (p.Pro2401=)
16	g.3727838G>T	CA493393220	CREBBP	c.7209C>A (p.Pro2403=) c.7095C>A (p.Pro2365=) c.7164C>A (p.Pro2388=) c.6792C>A (p.Pro2264=) c.6948C>A (p.Pro2316=) c.7155C>A (p.Pro2385=) c.6456C>A (p.Pro2152=) c.7203C>A (p.Pro2401=)	dbSNP
16	g.3727839G>A	CA394550304	CREBBP	c.7208C>T (p.Pro2403Leu) c.7094C>T (p.Pro2365Leu) c.7163C>T (p.Pro2388Leu) c.6791C>T (p.Pro2264Leu) c.6947C>T (p.Pro2316Leu) c.7154C>T (p.Pro2385Leu) c.6455C>T (p.Pro2152Leu) c.7202C>T (p.Pro2401Leu)	dbSNP gnomAD v4
16	g.3727839G>C	CA394550305	CREBBP	c.7208C>G (p.Pro2403Arg) c.7094C>G (p.Pro2365Arg) c.7163C>G (p.Pro2388Arg) c.6791C>G (p.Pro2264Arg) c.6947C>G (p.Pro2316Arg) c.7154C>G (p.Pro2385Arg) c.6455C>G (p.Pro2152Arg) c.7202C>G (p.Pro2401Arg)	dbSNP
16	g.3727839G=	CA2202928364	CREBBP	c.7208C= (p.Pro2403=) c.7094C= (p.Pro2365=) c.7163C= (p.Pro2388=) c.6791C= (p.Pro2264=) c.6947C= (p.Pro2316=) c.7154C= (p.Pro2385=) c.6455C= (p.Pro2152=) c.7202C= (p.Pro2401=)
16	g.3727839G>T	CA394550306	CREBBP	c.7208C>A (p.Pro2403His) c.7094C>A (p.Pro2365His) c.7163C>A (p.Pro2388His) c.6791C>A (p.Pro2264His) c.6947C>A (p.Pro2316His) c.7154C>A (p.Pro2385His) c.6455C>A (p.Pro2152His) c.7202C>A (p.Pro2401His)	dbSNP
16	g.3727840G>A	CA394550307	CREBBP	c.7207C>T (p.Pro2403Ser) c.7093C>T (p.Pro2365Ser) c.7162C>T (p.Pro2388Ser) c.6790C>T (p.Pro2264Ser) c.6946C>T (p.Pro2316Ser) c.7153C>T (p.Pro2385Ser) c.6454C>T (p.Pro2152Ser) c.7201C>T (p.Pro2401Ser)	dbSNP
16	g.3727840G>C	CA394550308	CREBBP	c.7207C>G (p.Pro2403Ala) c.7093C>G (p.Pro2365Ala) c.7162C>G (p.Pro2388Ala) c.6790C>G (p.Pro2264Ala) c.6946C>G (p.Pro2316Ala) c.7153C>G (p.Pro2385Ala) c.6454C>G (p.Pro2152Ala) c.7201C>G (p.Pro2401Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727840G=	CA2202928365	CREBBP	c.7207C= (p.Pro2403=) c.7093C= (p.Pro2365=) c.7162C= (p.Pro2388=) c.6790C= (p.Pro2264=) c.6946C= (p.Pro2316=) c.7153C= (p.Pro2385=) c.6454C= (p.Pro2152=) c.7201C= (p.Pro2401=)
16	g.3727840G>T	CA394550309	CREBBP	c.7207C>A (p.Pro2403Thr) c.7093C>A (p.Pro2365Thr) c.7162C>A (p.Pro2388Thr) c.6790C>A (p.Pro2264Thr) c.6946C>A (p.Pro2316Thr) c.7153C>A (p.Pro2385Thr) c.6454C>A (p.Pro2152Thr) c.7201C>A (p.Pro2401Thr)	dbSNP gnomAD v4
16	g.3727841G>A	CA493393224	CREBBP	c.7206C>T (p.Asn2402=) c.7092C>T (p.Asn2364=) c.7161C>T (p.Asn2387=) c.6789C>T (p.Asn2263=) c.6945C>T (p.Asn2315=) c.7152C>T (p.Asn2384=) c.6453C>T (p.Asn2151=) c.7200C>T (p.Asn2400=)	gnomAD v4
16	g.3727841G>C	CA394550310	CREBBP	c.7206C>G (p.Asn2402Lys) c.7092C>G (p.Asn2364Lys) c.7161C>G (p.Asn2387Lys) c.6789C>G (p.Asn2263Lys) c.6945C>G (p.Asn2315Lys) c.7152C>G (p.Asn2384Lys) c.6453C>G (p.Asn2151Lys) c.7200C>G (p.Asn2400Lys)	dbSNP
16	g.3727841G>T	CA394550311	CREBBP	c.7206C>A (p.Asn2402Lys) c.7092C>A (p.Asn2364Lys) c.7161C>A (p.Asn2387Lys) c.6789C>A (p.Asn2263Lys) c.6945C>A (p.Asn2315Lys) c.7152C>A (p.Asn2384Lys) c.6453C>A (p.Asn2151Lys) c.7200C>A (p.Asn2400Lys)
16	g.3727842T>A	CA394550312	CREBBP	c.7205A>T (p.Asn2402Ile) c.7091A>T (p.Asn2364Ile) c.7160A>T (p.Asn2387Ile) c.6788A>T (p.Asn2263Ile) c.6944A>T (p.Asn2315Ile) c.7151A>T (p.Asn2384Ile) c.6452A>T (p.Asn2151Ile) c.7199A>T (p.Asn2400Ile)	dbSNP
16	g.3727842T>C	CA394550313	CREBBP	c.7205A>G (p.Asn2402Ser) c.7091A>G (p.Asn2364Ser) c.7160A>G (p.Asn2387Ser) c.6788A>G (p.Asn2263Ser) c.6944A>G (p.Asn2315Ser) c.7151A>G (p.Asn2384Ser) c.6452A>G (p.Asn2151Ser) c.7199A>G (p.Asn2400Ser)	dbSNP
16	g.3727842T>G	CA394550314	CREBBP	c.7205A>C (p.Asn2402Thr) c.7091A>C (p.Asn2364Thr) c.7160A>C (p.Asn2387Thr) c.6788A>C (p.Asn2263Thr) c.6944A>C (p.Asn2315Thr) c.7151A>C (p.Asn2384Thr) c.6452A>C (p.Asn2151Thr) c.7199A>C (p.Asn2400Thr)	dbSNP gnomAD v4
16	g.3727843T>A	CA394550317	CREBBP	c.7204A>T (p.Asn2402Tyr) c.7090A>T (p.Asn2364Tyr) c.7159A>T (p.Asn2387Tyr) c.6787A>T (p.Asn2263Tyr) c.6943A>T (p.Asn2315Tyr) c.7150A>T (p.Asn2384Tyr) c.6451A>T (p.Asn2151Tyr) c.7198A>T (p.Asn2400Tyr)
16	g.3727843T>C	CA394550315	CREBBP	c.7204A>G (p.Asn2402Asp) c.7090A>G (p.Asn2364Asp) c.7159A>G (p.Asn2387Asp) c.6787A>G (p.Asn2263Asp) c.6943A>G (p.Asn2315Asp) c.7150A>G (p.Asn2384Asp) c.6451A>G (p.Asn2151Asp) c.7198A>G (p.Asn2400Asp)	ClinVar
16	g.3727843T>G	CA394550316	CREBBP	c.7204A>C (p.Asn2402His) c.7090A>C (p.Asn2364His) c.7159A>C (p.Asn2387His) c.6787A>C (p.Asn2263His) c.6943A>C (p.Asn2315His) c.7150A>C (p.Asn2384His) c.6451A>C (p.Asn2151His) c.7198A>C (p.Asn2400His)	dbSNP gnomAD v3 gnomAD v4
16	g.3727844C>A	CA493393230	CREBBP	c.7203G>T (p.Gly2401=) c.7089G>T (p.Gly2363=) c.7158G>T (p.Gly2386=) c.6786G>T (p.Gly2262=) c.6942G>T (p.Gly2314=) c.7149G>T (p.Gly2383=) c.6450G>T (p.Gly2150=) c.7197G>T (p.Gly2399=)	ClinVar dbSNP
16	g.3727844C=	CA2202928366	CREBBP	c.7203G= (p.Gly2401=) c.7089G= (p.Gly2363=) c.7158G= (p.Gly2386=) c.6786G= (p.Gly2262=) c.6942G= (p.Gly2314=) c.7149G= (p.Gly2383=) c.6450G= (p.Gly2150=) c.7197G= (p.Gly2399=)
16	g.3727844C>G	CA493393232	CREBBP	c.7203G>C (p.Gly2401=) c.7089G>C (p.Gly2363=) c.7158G>C (p.Gly2386=) c.6786G>C (p.Gly2262=) c.6942G>C (p.Gly2314=) c.7149G>C (p.Gly2383=) c.6450G>C (p.Gly2150=) c.7197G>C (p.Gly2399=)
16	g.3727844C>T	CA493393233	CREBBP	c.7203G>A (p.Gly2401=) c.7089G>A (p.Gly2363=) c.7158G>A (p.Gly2386=) c.6786G>A (p.Gly2262=) c.6942G>A (p.Gly2314=) c.7149G>A (p.Gly2383=) c.6450G>A (p.Gly2150=) c.7197G>A (p.Gly2399=)	gnomAD v4
16	g.3727845C>A	CA394550318	CREBBP	c.7202G>T (p.Gly2401Val) c.7088G>T (p.Gly2363Val) c.7157G>T (p.Gly2386Val) c.6785G>T (p.Gly2262Val) c.6941G>T (p.Gly2314Val) c.7148G>T (p.Gly2383Val) c.6449G>T (p.Gly2150Val) c.7196G>T (p.Gly2399Val)	dbSNP
16	g.3727845C>G	CA394550319	CREBBP	c.7202G>C (p.Gly2401Ala) c.7088G>C (p.Gly2363Ala) c.7157G>C (p.Gly2386Ala) c.6785G>C (p.Gly2262Ala) c.6941G>C (p.Gly2314Ala) c.7148G>C (p.Gly2383Ala) c.6449G>C (p.Gly2150Ala) c.7196G>C (p.Gly2399Ala)	dbSNP
16	g.3727845C>T	CA394550320	CREBBP	c.7202G>A (p.Gly2401Glu) c.7088G>A (p.Gly2363Glu) c.7157G>A (p.Gly2386Glu) c.6785G>A (p.Gly2262Glu) c.6941G>A (p.Gly2314Glu) c.7148G>A (p.Gly2383Glu) c.6449G>A (p.Gly2150Glu) c.7196G>A (p.Gly2399Glu)	dbSNP
16	g.3727846C>A	CA394550321	CREBBP	c.7201G>T (p.Gly2401Trp) c.7087G>T (p.Gly2363Trp) c.7156G>T (p.Gly2386Trp) c.6784G>T (p.Gly2262Trp) c.6940G>T (p.Gly2314Trp) c.7147G>T (p.Gly2383Trp) c.6448G>T (p.Gly2150Trp) c.7195G>T (p.Gly2399Trp)	dbSNP COSMIC
16	g.3727846C>G	CA394550322	CREBBP	c.7201G>C (p.Gly2401Arg) c.7087G>C (p.Gly2363Arg) c.7156G>C (p.Gly2386Arg) c.6784G>C (p.Gly2262Arg) c.6940G>C (p.Gly2314Arg) c.7147G>C (p.Gly2383Arg) c.6448G>C (p.Gly2150Arg) c.7195G>C (p.Gly2399Arg)	dbSNP
16	g.3727846C>T	CA394550323	CREBBP	c.7201G>A (p.Gly2401Arg) c.7087G>A (p.Gly2363Arg) c.7156G>A (p.Gly2386Arg) c.6784G>A (p.Gly2262Arg) c.6940G>A (p.Gly2314Arg) c.7147G>A (p.Gly2383Arg) c.6448G>A (p.Gly2150Arg) c.7195G>A (p.Gly2399Arg)	dbSNP
16	g.3727847C>A	CA394550324	CREBBP	c.7200G>T (p.Leu2400Phe) c.7086G>T (p.Leu2362Phe) c.7155G>T (p.Leu2385Phe) c.6783G>T (p.Leu2261Phe) c.6939G>T (p.Leu2313Phe) c.7146G>T (p.Leu2382Phe) c.6447G>T (p.Leu2149Phe) c.7194G>T (p.Leu2398Phe)	dbSNP gnomAD v4
16	g.3727847C>G	CA394550325	CREBBP	c.7200G>C (p.Leu2400Phe) c.7086G>C (p.Leu2362Phe) c.7155G>C (p.Leu2385Phe) c.6783G>C (p.Leu2261Phe) c.6939G>C (p.Leu2313Phe) c.7146G>C (p.Leu2382Phe) c.6447G>C (p.Leu2149Phe) c.7194G>C (p.Leu2398Phe)	dbSNP
16	g.3727847C>T	CA493393236	CREBBP	c.7200G>A (p.Leu2400=) c.7086G>A (p.Leu2362=) c.7155G>A (p.Leu2385=) c.6783G>A (p.Leu2261=) c.6939G>A (p.Leu2313=) c.7146G>A (p.Leu2382=) c.6447G>A (p.Leu2149=) c.7194G>A (p.Leu2398=)	dbSNP
16	g.3727848A>C	CA394550326	CREBBP	c.7199T>G (p.Leu2400Trp) c.7085T>G (p.Leu2362Trp) c.7154T>G (p.Leu2385Trp) c.6782T>G (p.Leu2261Trp) c.6938T>G (p.Leu2313Trp) c.7145T>G (p.Leu2382Trp) c.6446T>G (p.Leu2149Trp) c.7193T>G (p.Leu2398Trp)
16	g.3727848A>G	CA394550327	CREBBP	c.7199T>C (p.Leu2400Ser) c.7085T>C (p.Leu2362Ser) c.7154T>C (p.Leu2385Ser) c.6782T>C (p.Leu2261Ser) c.6938T>C (p.Leu2313Ser) c.7145T>C (p.Leu2382Ser) c.6446T>C (p.Leu2149Ser) c.7193T>C (p.Leu2398Ser)	dbSNP
16	g.3727848A>T	CA394550328	CREBBP	c.7199T>A (p.Leu2400Ter) c.7085T>A (p.Leu2362Ter) c.7154T>A (p.Leu2385Ter) c.6782T>A (p.Leu2261Ter) c.6938T>A (p.Leu2313Ter) c.7145T>A (p.Leu2382Ter) c.6446T>A (p.Leu2149Ter) c.7193T>A (p.Leu2398Ter)
16	g.3727849A=	CA2202928367	CREBBP	c.7198T= (p.Leu2400=) c.7084T= (p.Leu2362=) c.7153T= (p.Leu2385=) c.6781T= (p.Leu2261=) c.6937T= (p.Leu2313=) c.7144T= (p.Leu2382=) c.6445T= (p.Leu2149=) c.7192T= (p.Leu2398=)
16	g.3727849A>C	CA394550329	CREBBP	c.7198T>G (p.Leu2400Val) c.7084T>G (p.Leu2362Val) c.7153T>G (p.Leu2385Val) c.6781T>G (p.Leu2261Val) c.6937T>G (p.Leu2313Val) c.7144T>G (p.Leu2382Val) c.6445T>G (p.Leu2149Val) c.7192T>G (p.Leu2398Val)
16	g.3727849A>G	CA493393242	CREBBP	c.7198T>C (p.Leu2400=) c.7084T>C (p.Leu2362=) c.7153T>C (p.Leu2385=) c.6781T>C (p.Leu2261=) c.6937T>C (p.Leu2313=) c.7144T>C (p.Leu2382=) c.6445T>C (p.Leu2149=) c.7192T>C (p.Leu2398=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727849A>T	CA394550330	CREBBP	c.7198T>A (p.Leu2400Met) c.7084T>A (p.Leu2362Met) c.7153T>A (p.Leu2385Met) c.6781T>A (p.Leu2261Met) c.6937T>A (p.Leu2313Met) c.7144T>A (p.Leu2382Met) c.6445T>A (p.Leu2149Met) c.7192T>A (p.Leu2398Met)
16	g.3727850G>A	CA7868935	CREBBP	c.7197C>T (p.His2399=) c.7083C>T (p.His2361=) c.7152C>T (p.His2384=) c.6780C>T (p.His2260=) c.6936C>T (p.His2312=) c.7143C>T (p.His2381=) c.6444C>T (p.His2148=) c.7191C>T (p.His2397=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727850G>C	CA394550332	CREBBP	c.7197C>G (p.His2399Gln) c.7083C>G (p.His2361Gln) c.7152C>G (p.His2384Gln) c.6780C>G (p.His2260Gln) c.6936C>G (p.His2312Gln) c.7143C>G (p.His2381Gln) c.6444C>G (p.His2148Gln) c.7191C>G (p.His2397Gln)	dbSNP
16	g.3727850G=	CA2202928368	CREBBP	c.7197C= (p.His2399=) c.7083C= (p.His2361=) c.7152C= (p.His2384=) c.6780C= (p.His2260=) c.6936C= (p.His2312=) c.7143C= (p.His2381=) c.6444C= (p.His2148=) c.7191C= (p.His2397=)
16	g.3727850G>T	CA394550331	CREBBP	c.7197C>A (p.His2399Gln) c.7083C>A (p.His2361Gln) c.7152C>A (p.His2384Gln) c.6780C>A (p.His2260Gln) c.6936C>A (p.His2312Gln) c.7143C>A (p.His2381Gln) c.6444C>A (p.His2148Gln) c.7191C>A (p.His2397Gln)	dbSNP gnomAD v2
16	g.3727851T>A	CA394550333	CREBBP	c.7196A>T (p.His2399Leu) c.7082A>T (p.His2361Leu) c.7151A>T (p.His2384Leu) c.6779A>T (p.His2260Leu) c.6935A>T (p.His2312Leu) c.7142A>T (p.His2381Leu) c.6443A>T (p.His2148Leu) c.7190A>T (p.His2397Leu)	dbSNP
16	g.3727851T>C	CA394550334	CREBBP	c.7196A>G (p.His2399Arg) c.7082A>G (p.His2361Arg) c.7151A>G (p.His2384Arg) c.6779A>G (p.His2260Arg) c.6935A>G (p.His2312Arg) c.7142A>G (p.His2381Arg) c.6443A>G (p.His2148Arg) c.7190A>G (p.His2397Arg)
16	g.3727851T>G	CA394550335	CREBBP	c.7196A>C (p.His2399Pro) c.7082A>C (p.His2361Pro) c.7151A>C (p.His2384Pro) c.6779A>C (p.His2260Pro) c.6935A>C (p.His2312Pro) c.7142A>C (p.His2381Pro) c.6443A>C (p.His2148Pro) c.7190A>C (p.His2397Pro)	dbSNP
16	g.3727852G>A	CA7868936	CREBBP	c.7195C>T (p.His2399Tyr) c.7081C>T (p.His2361Tyr) c.7150C>T (p.His2384Tyr) c.6778C>T (p.His2260Tyr) c.6934C>T (p.His2312Tyr) c.7141C>T (p.His2381Tyr) c.6442C>T (p.His2148Tyr) c.7189C>T (p.His2397Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727852G>C	CA394550336	CREBBP	c.7195C>G (p.His2399Asp) c.7081C>G (p.His2361Asp) c.7150C>G (p.His2384Asp) c.6778C>G (p.His2260Asp) c.6934C>G (p.His2312Asp) c.7141C>G (p.His2381Asp) c.6442C>G (p.His2148Asp) c.7189C>G (p.His2397Asp)	dbSNP
16	g.3727852G=	CA2202928369	CREBBP	c.7195C= (p.His2399=) c.7081C= (p.His2361=) c.7150C= (p.His2384=) c.6778C= (p.His2260=) c.6934C= (p.His2312=) c.7141C= (p.His2381=) c.6442C= (p.His2148=) c.7189C= (p.His2397=)
16	g.3727852G>T	CA7868937	CREBBP	c.7195C>A (p.His2399Asn) c.7081C>A (p.His2361Asn) c.7150C>A (p.His2384Asn) c.6778C>A (p.His2260Asn) c.6934C>A (p.His2312Asn) c.7141C>A (p.His2381Asn) c.6442C>A (p.His2148Asn) c.7189C>A (p.His2397Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3727853T>A	CA493393247	CREBBP	c.7194A>T (p.Gly2398=) c.7080A>T (p.Gly2360=) c.7149A>T (p.Gly2383=) c.6777A>T (p.Gly2259=) c.6933A>T (p.Gly2311=) c.7140A>T (p.Gly2380=) c.6441A>T (p.Gly2147=) c.7188A>T (p.Gly2396=)
16	g.3727853T>C	CA7868938	CREBBP	c.7194A>G (p.Gly2398=) c.7080A>G (p.Gly2360=) c.7149A>G (p.Gly2383=) c.6777A>G (p.Gly2259=) c.6933A>G (p.Gly2311=) c.7140A>G (p.Gly2380=) c.6441A>G (p.Gly2147=) c.7188A>G (p.Gly2396=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727853T>G	CA493393250	CREBBP	c.7194A>C (p.Gly2398=) c.7080A>C (p.Gly2360=) c.7149A>C (p.Gly2383=) c.6777A>C (p.Gly2259=) c.6933A>C (p.Gly2311=) c.7140A>C (p.Gly2380=) c.6441A>C (p.Gly2147=) c.7188A>C (p.Gly2396=)
16	g.3727853T=	CA2202928370	CREBBP	c.7194A= (p.Gly2398=) c.7080A= (p.Gly2360=) c.7149A= (p.Gly2383=) c.6777A= (p.Gly2259=) c.6933A= (p.Gly2311=) c.7140A= (p.Gly2380=) c.6441A= (p.Gly2147=) c.7188A= (p.Gly2396=)
16	g.3727854C>A	CA394550337	CREBBP	c.7193G>T (p.Gly2398Val) c.7079G>T (p.Gly2360Val) c.7148G>T (p.Gly2383Val) c.6776G>T (p.Gly2259Val) c.6932G>T (p.Gly2311Val) c.7139G>T (p.Gly2380Val) c.6440G>T (p.Gly2147Val) c.7187G>T (p.Gly2396Val)
16	g.3727854C>G	CA394550339	CREBBP	c.7193G>C (p.Gly2398Ala) c.7079G>C (p.Gly2360Ala) c.7148G>C (p.Gly2383Ala) c.6776G>C (p.Gly2259Ala) c.6932G>C (p.Gly2311Ala) c.7139G>C (p.Gly2380Ala) c.6440G>C (p.Gly2147Ala) c.7187G>C (p.Gly2396Ala)	dbSNP
16	g.3727854C>T	CA394550338	CREBBP	c.7193G>A (p.Gly2398Glu) c.7079G>A (p.Gly2360Glu) c.7148G>A (p.Gly2383Glu) c.6776G>A (p.Gly2259Glu) c.6932G>A (p.Gly2311Glu) c.7139G>A (p.Gly2380Glu) c.6440G>A (p.Gly2147Glu) c.7187G>A (p.Gly2396Glu)	dbSNP
16	g.3727855C>A	CA394550340	CREBBP	c.7192G>T (p.Gly2398Ter) c.7078G>T (p.Gly2360Ter) c.7147G>T (p.Gly2383Ter) c.6775G>T (p.Gly2259Ter) c.6931G>T (p.Gly2311Ter) c.7138G>T (p.Gly2380Ter) c.6439G>T (p.Gly2147Ter) c.7186G>T (p.Gly2396Ter)	dbSNP COSMIC
16	g.3727855C=	CA2202928371	CREBBP	c.7192G= (p.Gly2398=) c.7078G= (p.Gly2360=) c.7147G= (p.Gly2383=) c.6775G= (p.Gly2259=) c.6931G= (p.Gly2311=) c.7138G= (p.Gly2380=) c.6439G= (p.Gly2147=) c.7186G= (p.Gly2396=)
16	g.3727855C>G	CA394550341	CREBBP	c.7192G>C (p.Gly2398Arg) c.7078G>C (p.Gly2360Arg) c.7147G>C (p.Gly2383Arg) c.6775G>C (p.Gly2259Arg) c.6931G>C (p.Gly2311Arg) c.7138G>C (p.Gly2380Arg) c.6439G>C (p.Gly2147Arg) c.7186G>C (p.Gly2396Arg)	dbSNP
16	g.3727855C>T	CA394550342	CREBBP	c.7192G>A (p.Gly2398Arg) c.7078G>A (p.Gly2360Arg) c.7147G>A (p.Gly2383Arg) c.6775G>A (p.Gly2259Arg) c.6931G>A (p.Gly2311Arg) c.7138G>A (p.Gly2380Arg) c.6439G>A (p.Gly2147Arg) c.7186G>A (p.Gly2396Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727856C>A	CA394550343	CREBBP	c.7191G>T (p.Gln2397His) c.7077G>T (p.Gln2359His) c.7146G>T (p.Gln2382His) c.6774G>T (p.Gln2258His) c.6930G>T (p.Gln2310His) c.7137G>T (p.Gln2379His) c.6438G>T (p.Gln2146His) c.7185G>T (p.Gln2395His)	dbSNP gnomAD v2
16	g.3727856C=	CA2202928372	CREBBP	c.7191G= (p.Gln2397=) c.7077G= (p.Gln2359=) c.7146G= (p.Gln2382=) c.6774G= (p.Gln2258=) c.6930G= (p.Gln2310=) c.7137G= (p.Gln2379=) c.6438G= (p.Gln2146=) c.7185G= (p.Gln2395=)
16	g.3727856C>G	CA394550344	CREBBP	c.7191G>C (p.Gln2397His) c.7077G>C (p.Gln2359His) c.7146G>C (p.Gln2382His) c.6774G>C (p.Gln2258His) c.6930G>C (p.Gln2310His) c.7137G>C (p.Gln2379His) c.6438G>C (p.Gln2146His) c.7185G>C (p.Gln2395His)	dbSNP gnomAD v2
16	g.3727856C>T	CA493393254	CREBBP	c.7191G>A (p.Gln2397=) c.7077G>A (p.Gln2359=) c.7146G>A (p.Gln2382=) c.6774G>A (p.Gln2258=) c.6930G>A (p.Gln2310=) c.7137G>A (p.Gln2379=) c.6438G>A (p.Gln2146=) c.7185G>A (p.Gln2395=)	dbSNP
16	g.3727857T>A	CA394550345	CREBBP	c.7190A>T (p.Gln2397Leu) c.7076A>T (p.Gln2359Leu) c.7145A>T (p.Gln2382Leu) c.6773A>T (p.Gln2258Leu) c.6929A>T (p.Gln2310Leu) c.7136A>T (p.Gln2379Leu) c.6437A>T (p.Gln2146Leu) c.7184A>T (p.Gln2395Leu)	dbSNP
16	g.3727857T>C	CA394550347	CREBBP	c.7190A>G (p.Gln2397Arg) c.7076A>G (p.Gln2359Arg) c.7145A>G (p.Gln2382Arg) c.6773A>G (p.Gln2258Arg) c.6929A>G (p.Gln2310Arg) c.7136A>G (p.Gln2379Arg) c.6437A>G (p.Gln2146Arg) c.7184A>G (p.Gln2395Arg)	dbSNP gnomAD v4
16	g.3727857T>G	CA394550346	CREBBP	c.7190A>C (p.Gln2397Pro) c.7076A>C (p.Gln2359Pro) c.7145A>C (p.Gln2382Pro) c.6773A>C (p.Gln2258Pro) c.6929A>C (p.Gln2310Pro) c.7136A>C (p.Gln2379Pro) c.6437A>C (p.Gln2146Pro) c.7184A>C (p.Gln2395Pro)
16	g.3727858del	CA2549792249	CREBBP	c.7189del (p.Gln2397ArgfsTer16) c.7075del (p.Gln2359ArgfsTer16) c.7144del (p.Gln2382ArgfsTer16) c.6772del (p.Gln2258ArgfsTer16) c.6928del (p.Gln2310ArgfsTer16) c.7135del (p.Gln2379ArgfsTer16) c.6436del (p.Gln2146ArgfsTer16) c.7183del (p.Gln2395ArgfsTer16)
16	g.3727858G>A	CA394550348	CREBBP	c.7189C>T (p.Gln2397Ter) c.7075C>T (p.Gln2359Ter) c.7144C>T (p.Gln2382Ter) c.6772C>T (p.Gln2258Ter) c.6928C>T (p.Gln2310Ter) c.7135C>T (p.Gln2379Ter) c.6436C>T (p.Gln2146Ter) c.7183C>T (p.Gln2395Ter)	dbSNP
16	g.3727858G>C	CA394550349	CREBBP	c.7189C>G (p.Gln2397Glu) c.7075C>G (p.Gln2359Glu) c.7144C>G (p.Gln2382Glu) c.6772C>G (p.Gln2258Glu) c.6928C>G (p.Gln2310Glu) c.7135C>G (p.Gln2379Glu) c.6436C>G (p.Gln2146Glu) c.7183C>G (p.Gln2395Glu)	dbSNP
16	g.3727858G>T	CA394550350	CREBBP	c.7189C>A (p.Gln2397Lys) c.7075C>A (p.Gln2359Lys) c.7144C>A (p.Gln2382Lys) c.6772C>A (p.Gln2258Lys) c.6928C>A (p.Gln2310Lys) c.7135C>A (p.Gln2379Lys) c.6436C>A (p.Gln2146Lys) c.7183C>A (p.Gln2395Lys)	dbSNP
16	g.3727859A>C	CA394550351	CREBBP	c.7188T>G (p.Asp2396Glu) c.7074T>G (p.Asp2358Glu) c.7143T>G (p.Asp2381Glu) c.6771T>G (p.Asp2257Glu) c.6927T>G (p.Asp2309Glu) c.7134T>G (p.Asp2378Glu) c.6435T>G (p.Asp2145Glu) c.7182T>G (p.Asp2394Glu)	dbSNP
16	g.3727859A>G	CA493393261	CREBBP	c.7188T>C (p.Asp2396=) c.7074T>C (p.Asp2358=) c.7143T>C (p.Asp2381=) c.6771T>C (p.Asp2257=) c.6927T>C (p.Asp2309=) c.7134T>C (p.Asp2378=) c.6435T>C (p.Asp2145=) c.7182T>C (p.Asp2394=)	dbSNP
16	g.3727859A>T	CA394550352	CREBBP	c.7188T>A (p.Asp2396Glu) c.7074T>A (p.Asp2358Glu) c.7143T>A (p.Asp2381Glu) c.6771T>A (p.Asp2257Glu) c.6927T>A (p.Asp2309Glu) c.7134T>A (p.Asp2378Glu) c.6435T>A (p.Asp2145Glu) c.7182T>A (p.Asp2394Glu)	dbSNP
16	g.3727860T>A	CA394550353	CREBBP	c.7187A>T (p.Asp2396Val) c.7073A>T (p.Asp2358Val) c.7142A>T (p.Asp2381Val) c.6770A>T (p.Asp2257Val) c.6926A>T (p.Asp2309Val) c.7133A>T (p.Asp2378Val) c.6434A>T (p.Asp2145Val) c.7181A>T (p.Asp2394Val)	dbSNP
16	g.3727860T>C	CA394550354	CREBBP	c.7187A>G (p.Asp2396Gly) c.7073A>G (p.Asp2358Gly) c.7142A>G (p.Asp2381Gly) c.6770A>G (p.Asp2257Gly) c.6926A>G (p.Asp2309Gly) c.7133A>G (p.Asp2378Gly) c.6434A>G (p.Asp2145Gly) c.7181A>G (p.Asp2394Gly)
16	g.3727860T>G	CA394550355	CREBBP	c.7187A>C (p.Asp2396Ala) c.7073A>C (p.Asp2358Ala) c.7142A>C (p.Asp2381Ala) c.6770A>C (p.Asp2257Ala) c.6926A>C (p.Asp2309Ala) c.7133A>C (p.Asp2378Ala) c.6434A>C (p.Asp2145Ala) c.7181A>C (p.Asp2394Ala)	dbSNP
16	g.3727861C>A	CA394550356	CREBBP	c.7186G>T (p.Asp2396Tyr) c.7072G>T (p.Asp2358Tyr) c.7141G>T (p.Asp2381Tyr) c.6769G>T (p.Asp2257Tyr) c.6925G>T (p.Asp2309Tyr) c.7132G>T (p.Asp2378Tyr) c.6433G>T (p.Asp2145Tyr) c.7180G>T (p.Asp2394Tyr)	dbSNP
16	g.3727861C>G	CA394550357	CREBBP	c.7186G>C (p.Asp2396His) c.7072G>C (p.Asp2358His) c.7141G>C (p.Asp2381His) c.6769G>C (p.Asp2257His) c.6925G>C (p.Asp2309His) c.7132G>C (p.Asp2378His) c.6433G>C (p.Asp2145His) c.7180G>C (p.Asp2394His)	dbSNP
16	g.3727861C>T	CA394550358	CREBBP	c.7186G>A (p.Asp2396Asn) c.7072G>A (p.Asp2358Asn) c.7141G>A (p.Asp2381Asn) c.6769G>A (p.Asp2257Asn) c.6925G>A (p.Asp2309Asn) c.7132G>A (p.Asp2378Asn) c.6433G>A (p.Asp2145Asn) c.7180G>A (p.Asp2394Asn)	dbSNP gnomAD v4
16	g.3727862T>A	CA493393265	CREBBP	c.7185A>T (p.Ile2395=) c.7071A>T (p.Ile2357=) c.7140A>T (p.Ile2380=) c.6768A>T (p.Ile2256=) c.6924A>T (p.Ile2308=) c.7131A>T (p.Ile2377=) c.6432A>T (p.Ile2144=) c.7179A>T (p.Ile2393=)	dbSNP gnomAD v4
16	g.3727862T>C	CA394550359	CREBBP	c.7185A>G (p.Ile2395Met) c.7071A>G (p.Ile2357Met) c.7140A>G (p.Ile2380Met) c.6768A>G (p.Ile2256Met) c.6924A>G (p.Ile2308Met) c.7131A>G (p.Ile2377Met) c.6432A>G (p.Ile2144Met) c.7179A>G (p.Ile2393Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727862T>G	CA493393266	CREBBP	c.7185A>C (p.Ile2395=) c.7071A>C (p.Ile2357=) c.7140A>C (p.Ile2380=) c.6768A>C (p.Ile2256=) c.6924A>C (p.Ile2308=) c.7131A>C (p.Ile2377=) c.6432A>C (p.Ile2144=) c.7179A>C (p.Ile2393=)
16	g.3727862T=	CA2202928373	CREBBP	c.7185A= (p.Ile2395=) c.7071A= (p.Ile2357=) c.7140A= (p.Ile2380=) c.6768A= (p.Ile2256=) c.6924A= (p.Ile2308=) c.7131A= (p.Ile2377=) c.6432A= (p.Ile2144=) c.7179A= (p.Ile2393=)
16	g.3727863A=	CA2202928374	CREBBP	c.7184T= (p.Ile2395=) c.7070T= (p.Ile2357=) c.7139T= (p.Ile2380=) c.6767T= (p.Ile2256=) c.6923T= (p.Ile2308=) c.7130T= (p.Ile2377=) c.6431T= (p.Ile2144=) c.7178T= (p.Ile2393=)
16	g.3727863A>C	CA394550360	CREBBP	c.7184T>G (p.Ile2395Arg) c.7070T>G (p.Ile2357Arg) c.7139T>G (p.Ile2380Arg) c.6767T>G (p.Ile2256Arg) c.6923T>G (p.Ile2308Arg) c.7130T>G (p.Ile2377Arg) c.6431T>G (p.Ile2144Arg) c.7178T>G (p.Ile2393Arg)
16	g.3727863A>G	CA7868939	CREBBP	c.7184T>C (p.Ile2395Thr) c.7070T>C (p.Ile2357Thr) c.7139T>C (p.Ile2380Thr) c.6767T>C (p.Ile2256Thr) c.6923T>C (p.Ile2308Thr) c.7130T>C (p.Ile2377Thr) c.6431T>C (p.Ile2144Thr) c.7178T>C (p.Ile2393Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727863A>T	CA394550361	CREBBP	c.7184T>A (p.Ile2395Lys) c.7070T>A (p.Ile2357Lys) c.7139T>A (p.Ile2380Lys) c.6767T>A (p.Ile2256Lys) c.6923T>A (p.Ile2308Lys) c.7130T>A (p.Ile2377Lys) c.6431T>A (p.Ile2144Lys) c.7178T>A (p.Ile2393Lys)	dbSNP
16	g.3727864T>A	CA394550362	CREBBP	c.7183A>T (p.Ile2395Leu) c.7069A>T (p.Ile2357Leu) c.7138A>T (p.Ile2380Leu) c.6766A>T (p.Ile2256Leu) c.6922A>T (p.Ile2308Leu) c.7129A>T (p.Ile2377Leu) c.6430A>T (p.Ile2144Leu) c.7177A>T (p.Ile2393Leu)
16	g.3727864T>C	CA394550363	CREBBP	c.7183A>G (p.Ile2395Val) c.7069A>G (p.Ile2357Val) c.7138A>G (p.Ile2380Val) c.6766A>G (p.Ile2256Val) c.6922A>G (p.Ile2308Val) c.7129A>G (p.Ile2377Val) c.6430A>G (p.Ile2144Val) c.7177A>G (p.Ile2393Val)	dbSNP gnomAD v4
16	g.3727864T>G	CA394550364	CREBBP	c.7183A>C (p.Ile2395Leu) c.7069A>C (p.Ile2357Leu) c.7138A>C (p.Ile2380Leu) c.6766A>C (p.Ile2256Leu) c.6922A>C (p.Ile2308Leu) c.7129A>C (p.Ile2377Leu) c.6430A>C (p.Ile2144Leu) c.7177A>C (p.Ile2393Leu)
16	g.3727864T=	CA2202928375	CREBBP	c.7183A= (p.Ile2395=) c.7069A= (p.Ile2357=) c.7138A= (p.Ile2380=) c.6766A= (p.Ile2256=) c.6922A= (p.Ile2308=) c.7129A= (p.Ile2377=) c.6430A= (p.Ile2144=) c.7177A= (p.Ile2393=)
16	g.3727865G>A	CA276971046	CREBBP	c.7182C>T (p.Ser2394=) c.7068C>T (p.Ser2356=) c.7137C>T (p.Ser2379=) c.6765C>T (p.Ser2255=) c.6921C>T (p.Ser2307=) c.7128C>T (p.Ser2376=) c.6429C>T (p.Ser2143=) c.7176C>T (p.Ser2392=)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3727865G>C	CA493393269	CREBBP	c.7182C>G (p.Ser2394=) c.7068C>G (p.Ser2356=) c.7137C>G (p.Ser2379=) c.6765C>G (p.Ser2255=) c.6921C>G (p.Ser2307=) c.7128C>G (p.Ser2376=) c.6429C>G (p.Ser2143=) c.7176C>G (p.Ser2392=)	dbSNP
16	g.3727865G=	CA2202928376	CREBBP	c.7182C= (p.Ser2394=) c.7068C= (p.Ser2356=) c.7137C= (p.Ser2379=) c.6765C= (p.Ser2255=) c.6921C= (p.Ser2307=) c.7128C= (p.Ser2376=) c.6429C= (p.Ser2143=) c.7176C= (p.Ser2392=)
16	g.3727865G>T	CA493393271	CREBBP	c.7182C>A (p.Ser2394=) c.7068C>A (p.Ser2356=) c.7137C>A (p.Ser2379=) c.6765C>A (p.Ser2255=) c.6921C>A (p.Ser2307=) c.7128C>A (p.Ser2376=) c.6429C>A (p.Ser2143=) c.7176C>A (p.Ser2392=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3727866G>A	CA394550365	CREBBP	c.7181C>T (p.Ser2394Phe) c.7067C>T (p.Ser2356Phe) c.7136C>T (p.Ser2379Phe) c.6764C>T (p.Ser2255Phe) c.6920C>T (p.Ser2307Phe) c.7127C>T (p.Ser2376Phe) c.6428C>T (p.Ser2143Phe) c.7175C>T (p.Ser2392Phe)	dbSNP
16	g.3727866G>C	CA394550366	CREBBP	c.7181C>G (p.Ser2394Cys) c.7067C>G (p.Ser2356Cys) c.7136C>G (p.Ser2379Cys) c.6764C>G (p.Ser2255Cys) c.6920C>G (p.Ser2307Cys) c.7127C>G (p.Ser2376Cys) c.6428C>G (p.Ser2143Cys) c.7175C>G (p.Ser2392Cys)	dbSNP
16	g.3727866G>T	CA394550367	CREBBP	c.7181C>A (p.Ser2394Tyr) c.7067C>A (p.Ser2356Tyr) c.7136C>A (p.Ser2379Tyr) c.6764C>A (p.Ser2255Tyr) c.6920C>A (p.Ser2307Tyr) c.7127C>A (p.Ser2376Tyr) c.6428C>A (p.Ser2143Tyr) c.7175C>A (p.Ser2392Tyr)	dbSNP
16	g.3727867A>C	CA394550370	CREBBP	c.7180T>G (p.Ser2394Ala) c.7066T>G (p.Ser2356Ala) c.7135T>G (p.Ser2379Ala) c.6763T>G (p.Ser2255Ala) c.6919T>G (p.Ser2307Ala) c.7126T>G (p.Ser2376Ala) c.6427T>G (p.Ser2143Ala) c.7174T>G (p.Ser2392Ala)
16	g.3727867A>G	CA394550368	CREBBP	c.7180T>C (p.Ser2394Pro) c.7066T>C (p.Ser2356Pro) c.7135T>C (p.Ser2379Pro) c.6763T>C (p.Ser2255Pro) c.6919T>C (p.Ser2307Pro) c.7126T>C (p.Ser2376Pro) c.6427T>C (p.Ser2143Pro) c.7174T>C (p.Ser2392Pro)
16	g.3727867A>T	CA394550369	CREBBP	c.7180T>A (p.Ser2394Thr) c.7066T>A (p.Ser2356Thr) c.7135T>A (p.Ser2379Thr) c.6763T>A (p.Ser2255Thr) c.6919T>A (p.Ser2307Thr) c.7126T>A (p.Ser2376Thr) c.6427T>A (p.Ser2143Thr) c.7174T>A (p.Ser2392Thr)

Number of alleles fetched