Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3739581G>A	CA7869575	CREBBP	c.4277C>T (p.Thr1426Met) c.4163C>T (p.Thr1388Met) c.2912C>T (p.Thr971Met) c.583C>T n.215+818C>T n.3214C>T c.4232C>T (p.Thr1411Met) c.3860C>T (p.Thr1287Met) c.4133+818C>T (n.4133+818C>T) c.4223C>T (p.Thr1408Met) c.3524C>T (p.Thr1175Met) c.4271C>T (p.Thr1424Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739581G>C	CA394564684	CREBBP	c.4277C>G (p.Thr1426Arg) c.4163C>G (p.Thr1388Arg) c.2912C>G (p.Thr971Arg) c.583C>G n.215+818C>G n.3214C>G c.4232C>G (p.Thr1411Arg) c.3860C>G (p.Thr1287Arg) c.4133+818C>G (n.4133+818C>G) c.4223C>G (p.Thr1408Arg) c.3524C>G (p.Thr1175Arg) c.4271C>G (p.Thr1424Arg)	ClinVar dbSNP
16	g.3739581G=	CA2202939781	CREBBP	c.4277C= (p.Thr1426=) c.4163C= (p.Thr1388=) c.2912C= (p.Thr971=) c.583C= n.215+818C= n.3214C= c.4232C= (p.Thr1411=) c.3860C= (p.Thr1287=) c.4133+818C= (n.4133+818C=) c.4223C= (p.Thr1408=) c.3524C= (p.Thr1175=) c.4271C= (p.Thr1424=)
16	g.3739581G>T	CA394564685	CREBBP	c.4277C>A (p.Thr1426Lys) c.4163C>A (p.Thr1388Lys) c.2912C>A (p.Thr971Lys) c.583C>A n.215+818C>A n.3214C>A c.4232C>A (p.Thr1411Lys) c.3860C>A (p.Thr1287Lys) c.4133+818C>A (n.4133+818C>A) c.4223C>A (p.Thr1408Lys) c.3524C>A (p.Thr1175Lys) c.4271C>A (p.Thr1424Lys)	dbSNP
16	g.3739582T>A	CA394564686	CREBBP	c.4276A>T (p.Thr1426Ser) c.4162A>T (p.Thr1388Ser) c.2911A>T (p.Thr971Ser) c.582A>T n.215+817A>T n.3213A>T c.4231A>T (p.Thr1411Ser) c.3859A>T (p.Thr1287Ser) c.4133+817A>T (n.4133+817A>T) c.4222A>T (p.Thr1408Ser) c.3523A>T (p.Thr1175Ser) c.4270A>T (p.Thr1424Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.3739582T>C	CA394564688	CREBBP	c.4276A>G (p.Thr1426Ala) c.4162A>G (p.Thr1388Ala) c.2911A>G (p.Thr971Ala) c.582A>G n.215+817A>G n.3213A>G c.4231A>G (p.Thr1411Ala) c.3859A>G (p.Thr1287Ala) c.4133+817A>G (n.4133+817A>G) c.4222A>G (p.Thr1408Ala) c.3523A>G (p.Thr1175Ala) c.4270A>G (p.Thr1424Ala)
16	g.3739582T>G	CA394564687	CREBBP	c.4276A>C (p.Thr1426Pro) c.4162A>C (p.Thr1388Pro) c.2911A>C (p.Thr971Pro) c.582A>C n.215+817A>C n.3213A>C c.4231A>C (p.Thr1411Pro) c.3859A>C (p.Thr1287Pro) c.4133+817A>C (n.4133+817A>C) c.4222A>C (p.Thr1408Pro) c.3523A>C (p.Thr1175Pro) c.4270A>C (p.Thr1424Pro)	dbSNP
16	g.3739582T=	CA2202939784	CREBBP	c.4276A= (p.Thr1426=) c.4162A= (p.Thr1388=) c.2911A= (p.Thr971=) c.582A= n.215+817A= n.3213A= c.4231A= (p.Thr1411=) c.3859A= (p.Thr1287=) c.4133+817A= (n.4133+817A=) c.4222A= (p.Thr1408=) c.3523A= (p.Thr1175=) c.4270A= (p.Thr1424=)
16	g.3739583G>A	CA493280074	CREBBP	c.4275C>T (p.Asn1425=) c.4161C>T (p.Asn1387=) c.2910C>T (p.Asn970=) c.581C>T n.215+816C>T n.3212C>T c.4230C>T (p.Asn1410=) c.3858C>T (p.Asn1286=) c.4133+816C>T (n.4133+816C>T) c.4221C>T (p.Asn1407=) c.3522C>T (p.Asn1174=) c.4269C>T (p.Asn1423=)	gnomAD v4
16	g.3739583G>C	CA394564689	CREBBP	c.4275C>G (p.Asn1425Lys) c.4161C>G (p.Asn1387Lys) c.2910C>G (p.Asn970Lys) c.581C>G n.215+816C>G n.3212C>G c.4230C>G (p.Asn1410Lys) c.3858C>G (p.Asn1286Lys) c.4133+816C>G (n.4133+816C>G) c.4221C>G (p.Asn1407Lys) c.3522C>G (p.Asn1174Lys) c.4269C>G (p.Asn1423Lys)	COSMIC
16	g.3739583G>T	CA394564690	CREBBP	c.4275C>A (p.Asn1425Lys) c.4161C>A (p.Asn1387Lys) c.2910C>A (p.Asn970Lys) c.581C>A n.215+816C>A n.3212C>A c.4230C>A (p.Asn1410Lys) c.3858C>A (p.Asn1286Lys) c.4133+816C>A (n.4133+816C>A) c.4221C>A (p.Asn1407Lys) c.3522C>A (p.Asn1174Lys) c.4269C>A (p.Asn1423Lys)
16	g.3739584T>A	CA394564691	CREBBP	c.4274A>T (p.Asn1425Ile) c.4160A>T (p.Asn1387Ile) c.2909A>T (p.Asn970Ile) c.580A>T n.215+815A>T n.3211A>T c.4229A>T (p.Asn1410Ile) c.3857A>T (p.Asn1286Ile) c.4133+815A>T (n.4133+815A>T) c.4220A>T (p.Asn1407Ile) c.3521A>T (p.Asn1174Ile) c.4268A>T (p.Asn1423Ile)	dbSNP
16	g.3739584T>C	CA394564692	CREBBP	c.4274A>G (p.Asn1425Ser) c.4160A>G (p.Asn1387Ser) c.2909A>G (p.Asn970Ser) c.580A>G n.215+815A>G n.3211A>G c.4229A>G (p.Asn1410Ser) c.3857A>G (p.Asn1286Ser) c.4133+815A>G (n.4133+815A>G) c.4220A>G (p.Asn1407Ser) c.3521A>G (p.Asn1174Ser) c.4268A>G (p.Asn1423Ser)	dbSNP
16	g.3739584T>G	CA394564693	CREBBP	c.4274A>C (p.Asn1425Thr) c.4160A>C (p.Asn1387Thr) c.2909A>C (p.Asn970Thr) c.580A>C n.215+815A>C n.3211A>C c.4229A>C (p.Asn1410Thr) c.3857A>C (p.Asn1286Thr) c.4133+815A>C (n.4133+815A>C) c.4220A>C (p.Asn1407Thr) c.3521A>C (p.Asn1174Thr) c.4268A>C (p.Asn1423Thr)	dbSNP
16	g.3739586del	CA2695222645	CREBBP	c.4274del (p.Asn1425ThrfsTer?) c.4160del (p.Asn1387ThrfsTer?) c.2909del (p.Asn970ThrfsTer?) c.580del n.215+815del n.3211del c.4229del (p.Asn1410ThrfsTer?) c.3857del (p.Asn1286ThrfsTer?) c.4133+815del (n.4133+815del) c.4220del (p.Asn1407ThrfsTer?) c.3521del (p.Asn1174ThrfsTer?) c.4268del (p.Asn1423ThrfsTer?)
16	g.3739585T>A	CA394564694	CREBBP	c.4273A>T (p.Asn1425Tyr) c.4159A>T (p.Asn1387Tyr) c.2908A>T (p.Asn970Tyr) c.579A>T n.215+814A>T n.3210A>T c.4228A>T (p.Asn1410Tyr) c.3856A>T (p.Asn1286Tyr) c.4133+814A>T (n.4133+814A>T) c.4219A>T (p.Asn1407Tyr) c.3520A>T (p.Asn1174Tyr) c.4267A>T (p.Asn1423Tyr)
16	g.3739585T>C	CA276982475	CREBBP	c.4273A>G (p.Asn1425Asp) c.4159A>G (p.Asn1387Asp) c.2908A>G (p.Asn970Asp) c.579A>G n.215+814A>G n.3210A>G c.4228A>G (p.Asn1410Asp) c.3856A>G (p.Asn1286Asp) c.4133+814A>G (n.4133+814A>G) c.4219A>G (p.Asn1407Asp) c.3520A>G (p.Asn1174Asp) c.4267A>G (p.Asn1423Asp)	dbSNP gnomAD v4
16	g.3739585T>G	CA394564695	CREBBP	c.4273A>C (p.Asn1425His) c.4159A>C (p.Asn1387His) c.2908A>C (p.Asn970His) c.579A>C n.215+814A>C n.3210A>C c.4228A>C (p.Asn1410His) c.3856A>C (p.Asn1286His) c.4133+814A>C (n.4133+814A>C) c.4219A>C (p.Asn1407His) c.3520A>C (p.Asn1174His) c.4267A>C (p.Asn1423His)
16	g.3739585T=	CA2202939786	CREBBP	c.4273A= (p.Asn1425=) c.4159A= (p.Asn1387=) c.2908A= (p.Asn970=) c.579A= n.215+814A= n.3210A= c.4228A= (p.Asn1410=) c.3856A= (p.Asn1286=) c.4133+814A= (n.4133+814A=) c.4219A= (p.Asn1407=) c.3520A= (p.Asn1174=) c.4267A= (p.Asn1423=)
16	g.3739586T>A	CA493280077	CREBBP	c.4272A>T (p.Pro1424=) c.4158A>T (p.Pro1386=) c.2907A>T (p.Pro969=) c.578A>T n.215+813A>T n.3209A>T c.4227A>T (p.Pro1409=) c.3855A>T (p.Pro1285=) c.4133+813A>T (n.4133+813A>T) c.4218A>T (p.Pro1406=) c.3519A>T (p.Pro1173=) c.4266A>T (p.Pro1422=)
16	g.3739586T>C	CA493280075	CREBBP	c.4272A>G (p.Pro1424=) c.4158A>G (p.Pro1386=) c.2907A>G (p.Pro969=) c.578A>G n.215+813A>G n.3209A>G c.4227A>G (p.Pro1409=) c.3855A>G (p.Pro1285=) c.4133+813A>G (n.4133+813A>G) c.4218A>G (p.Pro1406=) c.3519A>G (p.Pro1173=) c.4266A>G (p.Pro1422=)
16	g.3739586T>G	CA493280076	CREBBP	c.4272A>C (p.Pro1424=) c.4158A>C (p.Pro1386=) c.2907A>C (p.Pro969=) c.578A>C n.215+813A>C n.3209A>C c.4227A>C (p.Pro1409=) c.3855A>C (p.Pro1285=) c.4133+813A>C (n.4133+813A>C) c.4218A>C (p.Pro1406=) c.3519A>C (p.Pro1173=) c.4266A>C (p.Pro1422=)	gnomAD v4
16	g.3739587G>A	CA394564696	CREBBP	c.4271C>T (p.Pro1424Leu) c.4157C>T (p.Pro1386Leu) c.2906C>T (p.Pro969Leu) c.577C>T n.215+812C>T n.3208C>T c.4226C>T (p.Pro1409Leu) c.3854C>T (p.Pro1285Leu) c.4133+812C>T (n.4133+812C>T) c.4217C>T (p.Pro1406Leu) c.3518C>T (p.Pro1173Leu) c.4265C>T (p.Pro1422Leu)	dbSNP COSMIC
16	g.3739587G>C	CA394564697	CREBBP	c.4271C>G (p.Pro1424Arg) c.4157C>G (p.Pro1386Arg) c.2906C>G (p.Pro969Arg) c.577C>G n.215+812C>G n.3208C>G c.4226C>G (p.Pro1409Arg) c.3854C>G (p.Pro1285Arg) c.4133+812C>G (n.4133+812C>G) c.4217C>G (p.Pro1406Arg) c.3518C>G (p.Pro1173Arg) c.4265C>G (p.Pro1422Arg)	dbSNP
16	g.3739587G>T	CA394564698	CREBBP	c.4271C>A (p.Pro1424Gln) c.4157C>A (p.Pro1386Gln) c.2906C>A (p.Pro969Gln) c.577C>A n.215+812C>A n.3208C>A c.4226C>A (p.Pro1409Gln) c.3854C>A (p.Pro1285Gln) c.4133+812C>A (n.4133+812C>A) c.4217C>A (p.Pro1406Gln) c.3518C>A (p.Pro1173Gln) c.4265C>A (p.Pro1422Gln)	dbSNP
16	g.3739588del	CA2731851210	CREBBP	c.4271del (p.Pro1424GlnfsTer?) c.4157del (p.Pro1386GlnfsTer?) c.2906del (p.Pro969GlnfsTer?) c.577del n.215+812del n.3208del c.4226del (p.Pro1409GlnfsTer?) c.3854del (p.Pro1285GlnfsTer?) c.4133+812del (n.4133+812del) c.4217del (p.Pro1406GlnfsTer?) c.3518del (p.Pro1173GlnfsTer?) c.4265del (p.Pro1422GlnfsTer?)	dbSNP
16	g.3739588G>A	CA394564701	CREBBP	c.4270C>T (p.Pro1424Ser) c.4156C>T (p.Pro1386Ser) c.2905C>T (p.Pro969Ser) c.576C>T n.215+811C>T n.3207C>T c.4225C>T (p.Pro1409Ser) c.3853C>T (p.Pro1285Ser) c.4133+811C>T (n.4133+811C>T) c.4216C>T (p.Pro1406Ser) c.3517C>T (p.Pro1173Ser) c.4264C>T (p.Pro1422Ser)	dbSNP COSMIC
16	g.3739588G>C	CA394564699	CREBBP	c.4270C>G (p.Pro1424Ala) c.4156C>G (p.Pro1386Ala) c.2905C>G (p.Pro969Ala) c.576C>G n.215+811C>G n.3207C>G c.4225C>G (p.Pro1409Ala) c.3853C>G (p.Pro1285Ala) c.4133+811C>G (n.4133+811C>G) c.4216C>G (p.Pro1406Ala) c.3517C>G (p.Pro1173Ala) c.4264C>G (p.Pro1422Ala)	dbSNP
16	g.3739588G>T	CA394564700	CREBBP	c.4270C>A (p.Pro1424Thr) c.4156C>A (p.Pro1386Thr) c.2905C>A (p.Pro969Thr) c.576C>A n.215+811C>A n.3207C>A c.4225C>A (p.Pro1409Thr) c.3853C>A (p.Pro1285Thr) c.4133+811C>A (n.4133+811C>A) c.4216C>A (p.Pro1406Thr) c.3517C>A (p.Pro1173Thr) c.4264C>A (p.Pro1422Thr)	dbSNP
16	g.3739589del	CA2573054228	CREBBP	c.4269del (p.Pro1424GlnfsTer?) c.4155del (p.Pro1386GlnfsTer?) c.2904del (p.Pro969GlnfsTer?) c.575del n.215+810del n.3206del c.4224del (p.Pro1409GlnfsTer?) c.3852del (p.Pro1285GlnfsTer?) c.4133+810del (n.4133+810del) c.4215del (p.Pro1406GlnfsTer?) c.3516del (p.Pro1173GlnfsTer?) c.4263del (p.Pro1422GlnfsTer?)	ClinVar dbSNP
16	g.3739589A>C	CA493280078	CREBBP	c.4269T>G (p.Pro1423=) c.4155T>G (p.Pro1385=) c.2904T>G (p.Pro968=) c.575T>G n.215+810T>G n.3206T>G c.4224T>G (p.Pro1408=) c.3852T>G (p.Pro1284=) c.4133+810T>G (n.4133+810T>G) c.4215T>G (p.Pro1405=) c.3516T>G (p.Pro1172=) c.4263T>G (p.Pro1421=)
16	g.3739589A>G	CA493280079	CREBBP	c.4269T>C (p.Pro1423=) c.4155T>C (p.Pro1385=) c.2904T>C (p.Pro968=) c.575T>C n.215+810T>C n.3206T>C c.4224T>C (p.Pro1408=) c.3852T>C (p.Pro1284=) c.4133+810T>C (n.4133+810T>C) c.4215T>C (p.Pro1405=) c.3516T>C (p.Pro1172=) c.4263T>C (p.Pro1421=)
16	g.3739589A>T	CA493280080	CREBBP	c.4269T>A (p.Pro1423=) c.4155T>A (p.Pro1385=) c.2904T>A (p.Pro968=) c.575T>A n.215+810T>A n.3206T>A c.4224T>A (p.Pro1408=) c.3852T>A (p.Pro1284=) c.4133+810T>A (n.4133+810T>A) c.4215T>A (p.Pro1405=) c.3516T>A (p.Pro1172=) c.4263T>A (p.Pro1421=)
16	g.3739590G>A	CA7869576	CREBBP	c.4268C>T (p.Pro1423Leu) c.4154C>T (p.Pro1385Leu) c.2903C>T (p.Pro968Leu) c.574C>T n.215+809C>T n.3205C>T c.4223C>T (p.Pro1408Leu) c.3851C>T (p.Pro1284Leu) c.4133+809C>T (n.4133+809C>T) c.4214C>T (p.Pro1405Leu) c.3515C>T (p.Pro1172Leu) c.4262C>T (p.Pro1421Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3739590G>C	CA394564702	CREBBP	c.4268C>G (p.Pro1423Arg) c.4154C>G (p.Pro1385Arg) c.2903C>G (p.Pro968Arg) c.574C>G n.215+809C>G n.3205C>G c.4223C>G (p.Pro1408Arg) c.3851C>G (p.Pro1284Arg) c.4133+809C>G (n.4133+809C>G) c.4214C>G (p.Pro1405Arg) c.3515C>G (p.Pro1172Arg) c.4262C>G (p.Pro1421Arg)	dbSNP gnomAD v2 gnomAD v4
16	g.3739590G=	CA2202939790	CREBBP	c.4268C= (p.Pro1423=) c.4154C= (p.Pro1385=) c.2903C= (p.Pro968=) c.574C= n.215+809C= n.3205C= c.4223C= (p.Pro1408=) c.3851C= (p.Pro1284=) c.4133+809C= (n.4133+809C=) c.4214C= (p.Pro1405=) c.3515C= (p.Pro1172=) c.4262C= (p.Pro1421=)
16	g.3739590G>T	CA394564703	CREBBP	c.4268C>A (p.Pro1423His) c.4154C>A (p.Pro1385His) c.2903C>A (p.Pro968His) c.574C>A n.215+809C>A n.3205C>A c.4223C>A (p.Pro1408His) c.3851C>A (p.Pro1284His) c.4133+809C>A (n.4133+809C>A) c.4214C>A (p.Pro1405His) c.3515C>A (p.Pro1172His) c.4262C>A (p.Pro1421His)	dbSNP
16	g.3739595dup	CA645593130	CREBBP	c.4268dup (p.Pro1424SerfsTer13) c.4154dup (p.Pro1386SerfsTer13) c.2903dup (p.Pro969SerfsTer13) c.574dup n.215+809dup n.3205dup c.4223dup (p.Pro1409SerfsTer13) c.3851dup (p.Pro1285SerfsTer13) c.4133+809dup (n.4133+809dup) c.4214dup (p.Pro1406SerfsTer13) c.3515dup (p.Pro1173SerfsTer13) c.4262dup (p.Pro1422SerfsTer13)	dbSNP gnomAD v4 COSMIC
16	g.3739595del	CA645593129	CREBBP	c.4268del (p.Pro1423LeufsTer?) c.4154del (p.Pro1385LeufsTer?) c.2903del (p.Pro968LeufsTer?) c.574del n.215+809del n.3205del c.4223del (p.Pro1408LeufsTer?) c.3851del (p.Pro1284LeufsTer?) c.4133+809del (n.4133+809del) c.4214del (p.Pro1405LeufsTer?) c.3515del (p.Pro1172LeufsTer?) c.4262del (p.Pro1421LeufsTer?)	ClinVar COSMIC
16	g.3739591G>A	CA207767	CREBBP	c.4267C>T (p.Pro1423Ser) c.4153C>T (p.Pro1385Ser) c.2902C>T (p.Pro968Ser) c.573C>T n.215+808C>T n.3204C>T c.4222C>T (p.Pro1408Ser) c.3850C>T (p.Pro1284Ser) c.4133+808C>T (n.4133+808C>T) c.4213C>T (p.Pro1405Ser) c.3514C>T (p.Pro1172Ser) c.4261C>T (p.Pro1421Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739591G>C	CA394564704	CREBBP	c.4267C>G (p.Pro1423Ala) c.4153C>G (p.Pro1385Ala) c.2902C>G (p.Pro968Ala) c.573C>G n.215+808C>G n.3204C>G c.4222C>G (p.Pro1408Ala) c.3850C>G (p.Pro1284Ala) c.4133+808C>G (n.4133+808C>G) c.4213C>G (p.Pro1405Ala) c.3514C>G (p.Pro1172Ala) c.4261C>G (p.Pro1421Ala)	dbSNP
16	g.3739591G=	CA2202939797	CREBBP	c.4267C= (p.Pro1423=) c.4153C= (p.Pro1385=) c.2902C= (p.Pro968=) c.573C= n.215+808C= n.3204C= c.4222C= (p.Pro1408=) c.3850C= (p.Pro1284=) c.4133+808C= (n.4133+808C=) c.4213C= (p.Pro1405=) c.3514C= (p.Pro1172=) c.4261C= (p.Pro1421=)
16	g.3739591G>T	CA394564705	CREBBP	c.4267C>A (p.Pro1423Thr) c.4153C>A (p.Pro1385Thr) c.2902C>A (p.Pro968Thr) c.573C>A n.215+808C>A n.3204C>A c.4222C>A (p.Pro1408Thr) c.3850C>A (p.Pro1284Thr) c.4133+808C>A (n.4133+808C>A) c.4213C>A (p.Pro1405Thr) c.3514C>A (p.Pro1172Thr) c.4261C>A (p.Pro1421Thr)	dbSNP gnomAD v3 gnomAD v4
16	g.3739592G>A	CA493280081	CREBBP	c.4266C>T (p.Pro1422=) c.4152C>T (p.Pro1384=) c.2901C>T (p.Pro967=) c.572C>T n.215+807C>T n.3203C>T c.4221C>T (p.Pro1407=) c.3849C>T (p.Pro1283=) c.4133+807C>T (n.4133+807C>T) c.4212C>T (p.Pro1404=) c.3513C>T (p.Pro1171=) c.4260C>T (p.Pro1420=)	dbSNP
16	g.3739592G>C	CA276982494	CREBBP	c.4266C>G (p.Pro1422=) c.4152C>G (p.Pro1384=) c.2901C>G (p.Pro967=) c.572C>G n.215+807C>G n.3203C>G c.4221C>G (p.Pro1407=) c.3849C>G (p.Pro1283=) c.4133+807C>G (n.4133+807C>G) c.4212C>G (p.Pro1404=) c.3513C>G (p.Pro1171=) c.4260C>G (p.Pro1420=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739592G=	CA2202939805	CREBBP	c.4266C= (p.Pro1422=) c.4152C= (p.Pro1384=) c.2901C= (p.Pro967=) c.572C= n.215+807C= n.3203C= c.4221C= (p.Pro1407=) c.3849C= (p.Pro1283=) c.4133+807C= (n.4133+807C=) c.4212C= (p.Pro1404=) c.3513C= (p.Pro1171=) c.4260C= (p.Pro1420=)
16	g.3739592G>T	CA242552	CREBBP	c.4266C>A (p.Pro1422=) c.4152C>A (p.Pro1384=) c.2901C>A (p.Pro967=) c.572C>A n.215+807C>A n.3203C>A c.4221C>A (p.Pro1407=) c.3849C>A (p.Pro1283=) c.4133+807C>A (n.4133+807C>A) c.4212C>A (p.Pro1404=) c.3513C>A (p.Pro1171=) c.4260C>A (p.Pro1420=)	ClinVar dbSNP gnomAD v4
16	g.3739593G>A	CA394564706	CREBBP	c.4265C>T (p.Pro1422Leu) c.4151C>T (p.Pro1384Leu) c.2900C>T (p.Pro967Leu) c.571C>T n.215+806C>T n.3202C>T c.4220C>T (p.Pro1407Leu) c.3848C>T (p.Pro1283Leu) c.4133+806C>T (n.4133+806C>T) c.4211C>T (p.Pro1404Leu) c.3512C>T (p.Pro1171Leu) c.4259C>T (p.Pro1420Leu)
16	g.3739593G>C	CA394564707	CREBBP	c.4265C>G (p.Pro1422Arg) c.4151C>G (p.Pro1384Arg) c.2900C>G (p.Pro967Arg) c.571C>G n.215+806C>G n.3202C>G c.4220C>G (p.Pro1407Arg) c.3848C>G (p.Pro1283Arg) c.4133+806C>G (n.4133+806C>G) c.4211C>G (p.Pro1404Arg) c.3512C>G (p.Pro1171Arg) c.4259C>G (p.Pro1420Arg)	dbSNP
16	g.3739593G>T	CA394564708	CREBBP	c.4265C>A (p.Pro1422His) c.4151C>A (p.Pro1384His) c.2900C>A (p.Pro967His) c.571C>A n.215+806C>A n.3202C>A c.4220C>A (p.Pro1407His) c.3848C>A (p.Pro1283His) c.4133+806C>A (n.4133+806C>A) c.4211C>A (p.Pro1404His) c.3512C>A (p.Pro1171His) c.4259C>A (p.Pro1420His)	dbSNP
16	g.3739594G>A	CA394564710	CREBBP	c.4264C>T (p.Pro1422Ser) c.4150C>T (p.Pro1384Ser) c.2899C>T (p.Pro967Ser) c.570C>T n.215+805C>T n.3201C>T c.4219C>T (p.Pro1407Ser) c.3847C>T (p.Pro1283Ser) c.4133+805C>T (n.4133+805C>T) c.4210C>T (p.Pro1404Ser) c.3511C>T (p.Pro1171Ser) c.4258C>T (p.Pro1420Ser)	dbSNP gnomAD v4
16	g.3739594G>C	CA276982503	CREBBP	c.4264C>G (p.Pro1422Ala) c.4150C>G (p.Pro1384Ala) c.2899C>G (p.Pro967Ala) c.570C>G n.215+805C>G n.3201C>G c.4219C>G (p.Pro1407Ala) c.3847C>G (p.Pro1283Ala) c.4133+805C>G (n.4133+805C>G) c.4210C>G (p.Pro1404Ala) c.3511C>G (p.Pro1171Ala) c.4258C>G (p.Pro1420Ala)	dbSNP
16	g.3739594G=	CA2202939815	CREBBP	c.4264C= (p.Pro1422=) c.4150C= (p.Pro1384=) c.2899C= (p.Pro967=) c.570C= n.215+805C= n.3201C= c.4219C= (p.Pro1407=) c.3847C= (p.Pro1283=) c.4133+805C= (n.4133+805C=) c.4210C= (p.Pro1404=) c.3511C= (p.Pro1171=) c.4258C= (p.Pro1420=)
16	g.3739594G>T	CA394564709	CREBBP	c.4264C>A (p.Pro1422Thr) c.4150C>A (p.Pro1384Thr) c.2899C>A (p.Pro967Thr) c.570C>A n.215+805C>A n.3201C>A c.4219C>A (p.Pro1407Thr) c.3847C>A (p.Pro1283Thr) c.4133+805C>A (n.4133+805C>A) c.4210C>A (p.Pro1404Thr) c.3511C>A (p.Pro1171Thr) c.4258C>A (p.Pro1420Thr)
16	g.3739595G>A	CA7869577	CREBBP	c.4263C>T (p.Cys1421=) c.4149C>T (p.Cys1383=) c.2898C>T (p.Cys966=) c.569C>T n.215+804C>T n.3200C>T c.4218C>T (p.Cys1406=) c.3846C>T (p.Cys1282=) c.4133+804C>T (n.4133+804C>T) c.4209C>T (p.Cys1403=) c.3510C>T (p.Cys1170=) c.4257C>T (p.Cys1419=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739595G>C	CA394564711	CREBBP	c.4263C>G (p.Cys1421Trp) c.4149C>G (p.Cys1383Trp) c.2898C>G (p.Cys966Trp) c.569C>G n.215+804C>G n.3200C>G c.4218C>G (p.Cys1406Trp) c.3846C>G (p.Cys1282Trp) c.4133+804C>G (n.4133+804C>G) c.4209C>G (p.Cys1403Trp) c.3510C>G (p.Cys1170Trp) c.4257C>G (p.Cys1419Trp)	dbSNP
16	g.3739595G=	CA2202939818	CREBBP	c.4263C= (p.Cys1421=) c.4149C= (p.Cys1383=) c.2898C= (p.Cys966=) c.569C= n.215+804C= n.3200C= c.4218C= (p.Cys1406=) c.3846C= (p.Cys1282=) c.4133+804C= (n.4133+804C=) c.4209C= (p.Cys1403=) c.3510C= (p.Cys1170=) c.4257C= (p.Cys1419=)
16	g.3739595G>T	CA394564712	CREBBP	c.4263C>A (p.Cys1421Ter) c.4149C>A (p.Cys1383Ter) c.2898C>A (p.Cys966Ter) c.569C>A n.215+804C>A n.3200C>A c.4218C>A (p.Cys1406Ter) c.3846C>A (p.Cys1282Ter) c.4133+804C>A (n.4133+804C>A) c.4209C>A (p.Cys1403Ter) c.3510C>A (p.Cys1170Ter) c.4257C>A (p.Cys1419Ter)	dbSNP
16	g.3739596C>A	CA394564713	CREBBP	c.4262G>T (p.Cys1421Phe) c.4148G>T (p.Cys1383Phe) c.2897G>T (p.Cys966Phe) c.568G>T n.215+803G>T n.3199G>T c.4217G>T (p.Cys1406Phe) c.3845G>T (p.Cys1282Phe) c.4133+803G>T (n.4133+803G>T) c.4208G>T (p.Cys1403Phe) c.3509G>T (p.Cys1170Phe) c.4256G>T (p.Cys1419Phe)	ClinVar dbSNP
16	g.3739596C=	CA2202939823	CREBBP	c.4262G= (p.Cys1421=) c.4148G= (p.Cys1383=) c.2897G= (p.Cys966=) c.568G= n.215+803G= n.3199G= c.4217G= (p.Cys1406=) c.3845G= (p.Cys1282=) c.4133+803G= (n.4133+803G=) c.4208G= (p.Cys1403=) c.3509G= (p.Cys1170=) c.4256G= (p.Cys1419=)
16	g.3739596C>G	CA394564714	CREBBP	c.4262G>C (p.Cys1421Ser) c.4148G>C (p.Cys1383Ser) c.2897G>C (p.Cys966Ser) c.568G>C n.215+803G>C n.3199G>C c.4217G>C (p.Cys1406Ser) c.3845G>C (p.Cys1282Ser) c.4133+803G>C (n.4133+803G>C) c.4208G>C (p.Cys1403Ser) c.3509G>C (p.Cys1170Ser) c.4256G>C (p.Cys1419Ser)	dbSNP
16	g.3739596C>T	CA276982504	CREBBP	c.4262G>A (p.Cys1421Tyr) c.4148G>A (p.Cys1383Tyr) c.2897G>A (p.Cys966Tyr) c.568G>A n.215+803G>A n.3199G>A c.4217G>A (p.Cys1406Tyr) c.3845G>A (p.Cys1282Tyr) c.4133+803G>A (n.4133+803G>A) c.4208G>A (p.Cys1403Tyr) c.3509G>A (p.Cys1170Tyr) c.4256G>A (p.Cys1419Tyr)	dbSNP COSMIC
16	g.3739597A>C	CA394564717	CREBBP	c.4261T>G (p.Cys1421Gly) c.4147T>G (p.Cys1383Gly) c.2896T>G (p.Cys966Gly) c.567T>G n.215+802T>G n.3198T>G c.4216T>G (p.Cys1406Gly) c.3844T>G (p.Cys1282Gly) c.4133+802T>G (n.4133+802T>G) c.4207T>G (p.Cys1403Gly) c.3508T>G (p.Cys1170Gly) c.4255T>G (p.Cys1419Gly)	gnomAD v4
16	g.3739597A>G	CA394564715	CREBBP	c.4261T>C (p.Cys1421Arg) c.4147T>C (p.Cys1383Arg) c.2896T>C (p.Cys966Arg) c.567T>C n.215+802T>C n.3198T>C c.4216T>C (p.Cys1406Arg) c.3844T>C (p.Cys1282Arg) c.4133+802T>C (n.4133+802T>C) c.4207T>C (p.Cys1403Arg) c.3508T>C (p.Cys1170Arg) c.4255T>C (p.Cys1419Arg)
16	g.3739597A>T	CA394564716	CREBBP	c.4261T>A (p.Cys1421Ser) c.4147T>A (p.Cys1383Ser) c.2896T>A (p.Cys966Ser) c.567T>A n.215+802T>A n.3198T>A c.4216T>A (p.Cys1406Ser) c.3844T>A (p.Cys1282Ser) c.4133+802T>A (n.4133+802T>A) c.4207T>A (p.Cys1403Ser) c.3508T>A (p.Cys1170Ser) c.4255T>A (p.Cys1419Ser)	dbSNP
16	g.3739598A>C	CA394564718	CREBBP	c.4260T>G (p.Asp1420Glu) c.4146T>G (p.Asp1382Glu) c.2895T>G (p.Asp965Glu) c.566T>G n.215+801T>G n.3197T>G c.4215T>G (p.Asp1405Glu) c.3843T>G (p.Asp1281Glu) c.4133+801T>G (n.4133+801T>G) c.4206T>G (p.Asp1402Glu) c.3507T>G (p.Asp1169Glu) c.4254T>G (p.Asp1418Glu)	dbSNP
16	g.3739598A>G	CA493280082	CREBBP	c.4260T>C (p.Asp1420=) c.4146T>C (p.Asp1382=) c.2895T>C (p.Asp965=) c.566T>C n.215+801T>C n.3197T>C c.4215T>C (p.Asp1405=) c.3843T>C (p.Asp1281=) c.4133+801T>C (n.4133+801T>C) c.4206T>C (p.Asp1402=) c.3507T>C (p.Asp1169=) c.4254T>C (p.Asp1418=)	dbSNP
16	g.3739598A>T	CA394564719	CREBBP	c.4260T>A (p.Asp1420Glu) c.4146T>A (p.Asp1382Glu) c.2895T>A (p.Asp965Glu) c.566T>A n.215+801T>A n.3197T>A c.4215T>A (p.Asp1405Glu) c.3843T>A (p.Asp1281Glu) c.4133+801T>A (n.4133+801T>A) c.4206T>A (p.Asp1402Glu) c.3507T>A (p.Asp1169Glu) c.4254T>A (p.Asp1418Glu)	dbSNP
16	g.3739599T>A	CA394564720	CREBBP	c.4259A>T (p.Asp1420Val) c.4145A>T (p.Asp1382Val) c.2894A>T (p.Asp965Val) c.565A>T n.215+800A>T n.3196A>T c.4214A>T (p.Asp1405Val) c.3842A>T (p.Asp1281Val) c.4133+800A>T (n.4133+800A>T) c.4205A>T (p.Asp1402Val) c.3506A>T (p.Asp1169Val) c.4253A>T (p.Asp1418Val)	dbSNP
16	g.3739599T>C	CA394564721	CREBBP	c.4259A>G (p.Asp1420Gly) c.4145A>G (p.Asp1382Gly) c.2894A>G (p.Asp965Gly) c.565A>G n.215+800A>G n.3196A>G c.4214A>G (p.Asp1405Gly) c.3842A>G (p.Asp1281Gly) c.4133+800A>G (n.4133+800A>G) c.4205A>G (p.Asp1402Gly) c.3506A>G (p.Asp1169Gly) c.4253A>G (p.Asp1418Gly)	dbSNP gnomAD v4
16	g.3739599T>G	CA394564722	CREBBP	c.4259A>C (p.Asp1420Ala) c.4145A>C (p.Asp1382Ala) c.2894A>C (p.Asp965Ala) c.565A>C n.215+800A>C n.3196A>C c.4214A>C (p.Asp1405Ala) c.3842A>C (p.Asp1281Ala) c.4133+800A>C (n.4133+800A>C) c.4205A>C (p.Asp1402Ala) c.3506A>C (p.Asp1169Ala) c.4253A>C (p.Asp1418Ala)	dbSNP
16	g.3739600C>A	CA394564723	CREBBP	c.4258G>T (p.Asp1420Tyr) c.4144G>T (p.Asp1382Tyr) c.2893G>T (p.Asp965Tyr) c.564G>T n.215+799G>T n.3195G>T c.4213G>T (p.Asp1405Tyr) c.3841G>T (p.Asp1281Tyr) c.4133+799G>T (n.4133+799G>T) c.4204G>T (p.Asp1402Tyr) c.3505G>T (p.Asp1169Tyr) c.4252G>T (p.Asp1418Tyr)
16	g.3739600C>G	CA394564725	CREBBP	c.4258G>C (p.Asp1420His) c.4144G>C (p.Asp1382His) c.2893G>C (p.Asp965His) c.564G>C n.215+799G>C n.3195G>C c.4213G>C (p.Asp1405His) c.3841G>C (p.Asp1281His) c.4133+799G>C (n.4133+799G>C) c.4204G>C (p.Asp1402His) c.3505G>C (p.Asp1169His) c.4252G>C (p.Asp1418His)	dbSNP gnomAD v4
16	g.3739600C>T	CA394564724	CREBBP	c.4258G>A (p.Asp1420Asn) c.4144G>A (p.Asp1382Asn) c.2893G>A (p.Asp965Asn) c.564G>A n.215+799G>A n.3195G>A c.4213G>A (p.Asp1405Asn) c.3841G>A (p.Asp1281Asn) c.4133+799G>A (n.4133+799G>A) c.4204G>A (p.Asp1402Asn) c.3505G>A (p.Asp1169Asn) c.4252G>A (p.Asp1418Asn)	dbSNP
16	g.3739601A>C	CA493280084	CREBBP	c.4257T>G (p.Ser1419=) c.4143T>G (p.Ser1381=) c.2892T>G (p.Ser964=) c.563T>G n.215+798T>G n.3194T>G c.4212T>G (p.Ser1404=) c.3840T>G (p.Ser1280=) c.4133+798T>G (n.4133+798T>G) c.4203T>G (p.Ser1401=) c.3504T>G (p.Ser1168=) c.4251T>G (p.Ser1417=)
16	g.3739601A>G	CA493280085	CREBBP	c.4257T>C (p.Ser1419=) c.4143T>C (p.Ser1381=) c.2892T>C (p.Ser964=) c.563T>C n.215+798T>C n.3194T>C c.4212T>C (p.Ser1404=) c.3840T>C (p.Ser1280=) c.4133+798T>C (n.4133+798T>C) c.4203T>C (p.Ser1401=) c.3504T>C (p.Ser1168=) c.4251T>C (p.Ser1417=)
16	g.3739601A>T	CA493280086	CREBBP	c.4257T>A (p.Ser1419=) c.4143T>A (p.Ser1381=) c.2892T>A (p.Ser964=) c.563T>A n.215+798T>A n.3194T>A c.4212T>A (p.Ser1404=) c.3840T>A (p.Ser1280=) c.4133+798T>A (n.4133+798T>A) c.4203T>A (p.Ser1401=) c.3504T>A (p.Ser1168=) c.4251T>A (p.Ser1417=)	dbSNP
16	g.3739603_3739604del	CA2695222646	CREBBP	c.4256_4257del (p.Ser1419Ter) c.4142_4143del (p.Ser1381Ter) c.2891_2892del (p.Ser964Ter) c.562_563del n.215+797_215+798del n.3193_3194del c.4211_4212del (p.Ser1404Ter) c.3839_3840del (p.Ser1280Ter) c.4133+797_4133+798del (n.4133+797_4133+798del) c.4202_4203del (p.Ser1401Ter) c.3503_3504del (p.Ser1168Ter) c.4250_4251del (p.Ser1417Ter)
16	g.3739602G>A	CA394564726	CREBBP	c.4256C>T (p.Ser1419Phe) c.4142C>T (p.Ser1381Phe) c.2891C>T (p.Ser964Phe) c.562C>T n.215+797C>T n.3193C>T c.4211C>T (p.Ser1404Phe) c.3839C>T (p.Ser1280Phe) c.4133+797C>T (n.4133+797C>T) c.4202C>T (p.Ser1401Phe) c.3503C>T (p.Ser1168Phe) c.4250C>T (p.Ser1417Phe)	dbSNP
16	g.3739602G>C	CA394564727	CREBBP	c.4256C>G (p.Ser1419Cys) c.4142C>G (p.Ser1381Cys) c.2891C>G (p.Ser964Cys) c.562C>G n.215+797C>G n.3193C>G c.4211C>G (p.Ser1404Cys) c.3839C>G (p.Ser1280Cys) c.4133+797C>G (n.4133+797C>G) c.4202C>G (p.Ser1401Cys) c.3503C>G (p.Ser1168Cys) c.4250C>G (p.Ser1417Cys)	dbSNP
16	g.3739602G>T	CA394564728	CREBBP	c.4256C>A (p.Ser1419Tyr) c.4142C>A (p.Ser1381Tyr) c.2891C>A (p.Ser964Tyr) c.562C>A n.215+797C>A n.3193C>A c.4211C>A (p.Ser1404Tyr) c.3839C>A (p.Ser1280Tyr) c.4133+797C>A (n.4133+797C>A) c.4202C>A (p.Ser1401Tyr) c.3503C>A (p.Ser1168Tyr) c.4250C>A (p.Ser1417Tyr)
16	g.3739603A>C	CA394564729	CREBBP	c.4255T>G (p.Ser1419Ala) c.4141T>G (p.Ser1381Ala) c.2890T>G (p.Ser964Ala) c.561T>G n.215+796T>G n.3192T>G c.4210T>G (p.Ser1404Ala) c.3838T>G (p.Ser1280Ala) c.4133+796T>G (n.4133+796T>G) c.4201T>G (p.Ser1401Ala) c.3502T>G (p.Ser1168Ala) c.4249T>G (p.Ser1417Ala)
16	g.3739603A>G	CA394564730	CREBBP	c.4255T>C (p.Ser1419Pro) c.4141T>C (p.Ser1381Pro) c.2890T>C (p.Ser964Pro) c.561T>C n.215+796T>C n.3192T>C c.4210T>C (p.Ser1404Pro) c.3838T>C (p.Ser1280Pro) c.4133+796T>C (n.4133+796T>C) c.4201T>C (p.Ser1401Pro) c.3502T>C (p.Ser1168Pro) c.4249T>C (p.Ser1417Pro)	dbSNP
16	g.3739603A>T	CA394564731	CREBBP	c.4255T>A (p.Ser1419Thr) c.4141T>A (p.Ser1381Thr) c.2890T>A (p.Ser964Thr) c.561T>A n.215+796T>A n.3192T>A c.4210T>A (p.Ser1404Thr) c.3838T>A (p.Ser1280Thr) c.4133+796T>A (n.4133+796T>A) c.4201T>A (p.Ser1401Thr) c.3502T>A (p.Ser1168Thr) c.4249T>A (p.Ser1417Thr)	dbSNP gnomAD v4
16	g.3739604G>A	CA493280087	CREBBP	c.4254C>T (p.Gly1418=) c.4140C>T (p.Gly1380=) c.2889C>T (p.Gly963=) c.560C>T n.215+795C>T n.3191C>T c.4209C>T (p.Gly1403=) c.3837C>T (p.Gly1279=) c.4133+795C>T (n.4133+795C>T) c.4200C>T (p.Gly1400=) c.3501C>T (p.Gly1167=) c.4248C>T (p.Gly1416=)	dbSNP gnomAD v3 gnomAD v4
16	g.3739604G>C	CA493280088	CREBBP	c.4254C>G (p.Gly1418=) c.4140C>G (p.Gly1380=) c.2889C>G (p.Gly963=) c.560C>G n.215+795C>G n.3191C>G c.4209C>G (p.Gly1403=) c.3837C>G (p.Gly1279=) c.4133+795C>G (n.4133+795C>G) c.4200C>G (p.Gly1400=) c.3501C>G (p.Gly1167=) c.4248C>G (p.Gly1416=)	dbSNP
16	g.3739604G=	CA2202939828	CREBBP	c.4254C= (p.Gly1418=) c.4140C= (p.Gly1380=) c.2889C= (p.Gly963=) c.560C= n.215+795C= n.3191C= c.4209C= (p.Gly1403=) c.3837C= (p.Gly1279=) c.4133+795C= (n.4133+795C=) c.4200C= (p.Gly1400=) c.3501C= (p.Gly1167=) c.4248C= (p.Gly1416=)
16	g.3739604G>T	CA493280089	CREBBP	c.4254C>A (p.Gly1418=) c.4140C>A (p.Gly1380=) c.2889C>A (p.Gly963=) c.560C>A n.215+795C>A n.3191C>A c.4209C>A (p.Gly1403=) c.3837C>A (p.Gly1279=) c.4133+795C>A (n.4133+795C>A) c.4200C>A (p.Gly1400=) c.3501C>A (p.Gly1167=) c.4248C>A (p.Gly1416=)	dbSNP
16	g.3739605C>A	CA394564732	CREBBP	c.4253G>T (p.Gly1418Val) c.4139G>T (p.Gly1380Val) c.2888G>T (p.Gly963Val) c.559G>T n.215+794G>T n.3190G>T c.4208G>T (p.Gly1403Val) c.3836G>T (p.Gly1279Val) c.4133+794G>T (n.4133+794G>T) c.4199G>T (p.Gly1400Val) c.3500G>T (p.Gly1167Val) c.4247G>T (p.Gly1416Val)	dbSNP
16	g.3739605C>G	CA394564733	CREBBP	c.4253G>C (p.Gly1418Ala) c.4139G>C (p.Gly1380Ala) c.2888G>C (p.Gly963Ala) c.559G>C n.215+794G>C n.3190G>C c.4208G>C (p.Gly1403Ala) c.3836G>C (p.Gly1279Ala) c.4133+794G>C (n.4133+794G>C) c.4199G>C (p.Gly1400Ala) c.3500G>C (p.Gly1167Ala) c.4247G>C (p.Gly1416Ala)	dbSNP
16	g.3739605C>T	CA394564734	CREBBP	c.4253G>A (p.Gly1418Asp) c.4139G>A (p.Gly1380Asp) c.2888G>A (p.Gly963Asp) c.559G>A n.215+794G>A n.3190G>A c.4208G>A (p.Gly1403Asp) c.3836G>A (p.Gly1279Asp) c.4133+794G>A (n.4133+794G>A) c.4199G>A (p.Gly1400Asp) c.3500G>A (p.Gly1167Asp) c.4247G>A (p.Gly1416Asp)	dbSNP
16	g.3739606C>A	CA394564735	CREBBP	c.4252G>T (p.Gly1418Cys) c.4138G>T (p.Gly1380Cys) c.2887G>T (p.Gly963Cys) c.558G>T n.215+793G>T n.3189G>T c.4207G>T (p.Gly1403Cys) c.3835G>T (p.Gly1279Cys) c.4133+793G>T (n.4133+793G>T) c.4198G>T (p.Gly1400Cys) c.3499G>T (p.Gly1167Cys) c.4246G>T (p.Gly1416Cys)	dbSNP
16	g.3739606C=	CA2202939830	CREBBP	c.4252G= (p.Gly1418=) c.4138G= (p.Gly1380=) c.2887G= (p.Gly963=) c.558G= n.215+793G= n.3189G= c.4207G= (p.Gly1403=) c.3835G= (p.Gly1279=) c.4133+793G= (n.4133+793G=) c.4198G= (p.Gly1400=) c.3499G= (p.Gly1167=) c.4246G= (p.Gly1416=)
16	g.3739606C>G	CA394564736	CREBBP	c.4252G>C (p.Gly1418Arg) c.4138G>C (p.Gly1380Arg) c.2887G>C (p.Gly963Arg) c.558G>C n.215+793G>C n.3189G>C c.4207G>C (p.Gly1403Arg) c.3835G>C (p.Gly1279Arg) c.4133+793G>C (n.4133+793G>C) c.4198G>C (p.Gly1400Arg) c.3499G>C (p.Gly1167Arg) c.4246G>C (p.Gly1416Arg)	dbSNP
16	g.3739606C>T	CA7869578	CREBBP	c.4252G>A (p.Gly1418Ser) c.4138G>A (p.Gly1380Ser) c.2887G>A (p.Gly963Ser) c.558G>A n.215+793G>A n.3189G>A c.4207G>A (p.Gly1403Ser) c.3835G>A (p.Gly1279Ser) c.4133+793G>A (n.4133+793G>A) c.4198G>A (p.Gly1400Ser) c.3499G>A (p.Gly1167Ser) c.4246G>A (p.Gly1416Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739607G>A	CA7869579	CREBBP	c.4251C>T (p.Tyr1417=) c.4137C>T (p.Tyr1379=) c.2886C>T (p.Tyr962=) c.557C>T n.215+792C>T n.3188C>T c.4206C>T (p.Tyr1402=) c.3834C>T (p.Tyr1278=) c.4133+792C>T (n.4133+792C>T) c.4197C>T (p.Tyr1399=) c.3498C>T (p.Tyr1166=) c.4245C>T (p.Tyr1415=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739607G>C	CA394564738	CREBBP	c.4251C>G (p.Tyr1417Ter) c.4137C>G (p.Tyr1379Ter) c.2886C>G (p.Tyr962Ter) c.557C>G n.215+792C>G n.3188C>G c.4206C>G (p.Tyr1402Ter) c.3834C>G (p.Tyr1278Ter) c.4133+792C>G (n.4133+792C>G) c.4197C>G (p.Tyr1399Ter) c.3498C>G (p.Tyr1166Ter) c.4245C>G (p.Tyr1415Ter)	ClinVar dbSNP
16	g.3739607G=	CA2202939836	CREBBP	c.4251C= (p.Tyr1417=) c.4137C= (p.Tyr1379=) c.2886C= (p.Tyr962=) c.557C= n.215+792C= n.3188C= c.4206C= (p.Tyr1402=) c.3834C= (p.Tyr1278=) c.4133+792C= (n.4133+792C=) c.4197C= (p.Tyr1399=) c.3498C= (p.Tyr1166=) c.4245C= (p.Tyr1415=)
16	g.3739607G>T	CA394564737	CREBBP	c.4251C>A (p.Tyr1417Ter) c.4137C>A (p.Tyr1379Ter) c.2886C>A (p.Tyr962Ter) c.557C>A n.215+792C>A n.3188C>A c.4206C>A (p.Tyr1402Ter) c.3834C>A (p.Tyr1278Ter) c.4133+792C>A (n.4133+792C>A) c.4197C>A (p.Tyr1399Ter) c.3498C>A (p.Tyr1166Ter) c.4245C>A (p.Tyr1415Ter)	COSMIC
16	g.3739608T>A	CA394564741	CREBBP	c.4250A>T (p.Tyr1417Phe) c.4136A>T (p.Tyr1379Phe) c.2885A>T (p.Tyr962Phe) c.556A>T n.215+791A>T n.3187A>T c.4205A>T (p.Tyr1402Phe) c.3833A>T (p.Tyr1278Phe) c.4133+791A>T (n.4133+791A>T) c.4196A>T (p.Tyr1399Phe) c.3497A>T (p.Tyr1166Phe) c.4244A>T (p.Tyr1415Phe)	dbSNP
16	g.3739608T>C	CA394564739	CREBBP	c.4250A>G (p.Tyr1417Cys) c.4136A>G (p.Tyr1379Cys) c.2885A>G (p.Tyr962Cys) c.556A>G n.215+791A>G n.3187A>G c.4205A>G (p.Tyr1402Cys) c.3833A>G (p.Tyr1278Cys) c.4133+791A>G (n.4133+791A>G) c.4196A>G (p.Tyr1399Cys) c.3497A>G (p.Tyr1166Cys) c.4244A>G (p.Tyr1415Cys)	dbSNP
16	g.3739608T>G	CA394564740	CREBBP	c.4250A>C (p.Tyr1417Ser) c.4136A>C (p.Tyr1379Ser) c.2885A>C (p.Tyr962Ser) c.556A>C n.215+791A>C n.3187A>C c.4205A>C (p.Tyr1402Ser) c.3833A>C (p.Tyr1278Ser) c.4133+791A>C (n.4133+791A>C) c.4196A>C (p.Tyr1399Ser) c.3497A>C (p.Tyr1166Ser) c.4244A>C (p.Tyr1415Ser)	dbSNP
16	g.3739609A>C	CA394564742	CREBBP	c.4249T>G (p.Tyr1417Asp) c.4135T>G (p.Tyr1379Asp) c.2884T>G (p.Tyr962Asp) c.555T>G n.215+790T>G n.3186T>G c.4204T>G (p.Tyr1402Asp) c.3832T>G (p.Tyr1278Asp) c.4133+790T>G (n.4133+790T>G) c.4195T>G (p.Tyr1399Asp) c.3496T>G (p.Tyr1166Asp) c.4243T>G (p.Tyr1415Asp)
16	g.3739609A>G	CA394564743	CREBBP	c.4249T>C (p.Tyr1417His) c.4135T>C (p.Tyr1379His) c.2884T>C (p.Tyr962His) c.555T>C n.215+790T>C n.3186T>C c.4204T>C (p.Tyr1402His) c.3832T>C (p.Tyr1278His) c.4133+790T>C (n.4133+790T>C) c.4195T>C (p.Tyr1399His) c.3496T>C (p.Tyr1166His) c.4243T>C (p.Tyr1415His)
16	g.3739609A>T	CA394564744	CREBBP	c.4249T>A (p.Tyr1417Asn) c.4135T>A (p.Tyr1379Asn) c.2884T>A (p.Tyr962Asn) c.555T>A n.215+790T>A n.3186T>A c.4204T>A (p.Tyr1402Asn) c.3832T>A (p.Tyr1278Asn) c.4133+790T>A (n.4133+790T>A) c.4195T>A (p.Tyr1399Asn) c.3496T>A (p.Tyr1166Asn) c.4243T>A (p.Tyr1415Asn)	dbSNP
16	g.3739610T>A	CA394564745	CREBBP	c.4248A>T (p.Glu1416Asp) c.4134A>T (p.Glu1378Asp) c.2883A>T (p.Glu961Asp) c.554A>T n.215+789A>T n.3185A>T c.4203A>T (p.Glu1401Asp) c.3831A>T (p.Glu1277Asp) c.4133+789A>T (n.4133+789A>T) c.4194A>T (p.Glu1398Asp) c.3495A>T (p.Glu1165Asp) c.4242A>T (p.Glu1414Asp)	dbSNP
16	g.3739610T>C	CA493280090	CREBBP	c.4248A>G (p.Glu1416=) c.4134A>G (p.Glu1378=) c.2883A>G (p.Glu961=) c.554A>G n.215+789A>G n.3185A>G c.4203A>G (p.Glu1401=) c.3831A>G (p.Glu1277=) c.4133+789A>G (n.4133+789A>G) c.4194A>G (p.Glu1398=) c.3495A>G (p.Glu1165=) c.4242A>G (p.Glu1414=)	dbSNP
16	g.3739610T>G	CA394564746	CREBBP	c.4248A>C (p.Glu1416Asp) c.4134A>C (p.Glu1378Asp) c.2883A>C (p.Glu961Asp) c.554A>C n.215+789A>C n.3185A>C c.4203A>C (p.Glu1401Asp) c.3831A>C (p.Glu1277Asp) c.4133+789A>C (n.4133+789A>C) c.4194A>C (p.Glu1398Asp) c.3495A>C (p.Glu1165Asp) c.4242A>C (p.Glu1414Asp)
16	g.3739611T>A	CA394564749	CREBBP	c.4247A>T (p.Glu1416Val) c.4133A>T (p.Glu1378Val) c.2882A>T (p.Glu961Val) c.553A>T n.215+788A>T n.3184A>T c.4202A>T (p.Glu1401Val) c.3830A>T (p.Glu1277Val) c.4133+788A>T (n.4133+788A>T) c.4193A>T (p.Glu1398Val) c.3494A>T (p.Glu1165Val) c.4241A>T (p.Glu1414Val)
16	g.3739611T>C	CA394564747	CREBBP	c.4247A>G (p.Glu1416Gly) c.4133A>G (p.Glu1378Gly) c.2882A>G (p.Glu961Gly) c.553A>G n.215+788A>G n.3184A>G c.4202A>G (p.Glu1401Gly) c.3830A>G (p.Glu1277Gly) c.4133+788A>G (n.4133+788A>G) c.4193A>G (p.Glu1398Gly) c.3494A>G (p.Glu1165Gly) c.4241A>G (p.Glu1414Gly)
16	g.3739611T>G	CA394564748	CREBBP	c.4247A>C (p.Glu1416Ala) c.4133A>C (p.Glu1378Ala) c.2882A>C (p.Glu961Ala) c.553A>C n.215+788A>C n.3184A>C c.4202A>C (p.Glu1401Ala) c.3830A>C (p.Glu1277Ala) c.4133+788A>C (n.4133+788A>C) c.4193A>C (p.Glu1398Ala) c.3494A>C (p.Glu1165Ala) c.4241A>C (p.Glu1414Ala)
16	g.3739612C>A	CA394564750	CREBBP	c.4246G>T (p.Glu1416Ter) c.4132G>T (p.Glu1378Ter) c.2881G>T (p.Glu961Ter) c.552G>T n.215+787G>T n.3183G>T c.4201G>T (p.Glu1401Ter) c.3829G>T (p.Glu1277Ter) c.4133+787G>T (n.4133+787G>T) c.4192G>T (p.Glu1398Ter) c.3493G>T (p.Glu1165Ter) c.4240G>T (p.Glu1414Ter)	dbSNP COSMIC
16	g.3739612C>G	CA394564751	CREBBP	c.4246G>C (p.Glu1416Gln) c.4132G>C (p.Glu1378Gln) c.2881G>C (p.Glu961Gln) c.552G>C n.215+787G>C n.3183G>C c.4201G>C (p.Glu1401Gln) c.3829G>C (p.Glu1277Gln) c.4133+787G>C (n.4133+787G>C) c.4192G>C (p.Glu1398Gln) c.3493G>C (p.Glu1165Gln) c.4240G>C (p.Glu1414Gln)	dbSNP gnomAD v4 COSMIC
16	g.3739612C>T	CA394564752	CREBBP	c.4246G>A (p.Glu1416Lys) c.4132G>A (p.Glu1378Lys) c.2881G>A (p.Glu961Lys) c.552G>A n.215+787G>A n.3183G>A c.4201G>A (p.Glu1401Lys) c.3829G>A (p.Glu1277Lys) c.4133+787G>A (n.4133+787G>A) c.4192G>A (p.Glu1398Lys) c.3493G>A (p.Glu1165Lys) c.4240G>A (p.Glu1414Lys)	dbSNP
16	g.3739613T>A	CA394564753	CREBBP	c.4245A>T (p.Gln1415His) c.4131A>T (p.Gln1377His) c.2880A>T (p.Gln960His) c.551A>T n.215+786A>T n.3182A>T c.4200A>T (p.Gln1400His) c.3828A>T (p.Gln1276His) c.4133+786A>T (n.4133+786A>T) c.4191A>T (p.Gln1397His) c.3492A>T (p.Gln1164His) c.4239A>T (p.Gln1413His)	dbSNP
16	g.3739613T>C	CA493280091	CREBBP	c.4245A>G (p.Gln1415=) c.4131A>G (p.Gln1377=) c.2880A>G (p.Gln960=) c.551A>G n.215+786A>G n.3182A>G c.4200A>G (p.Gln1400=) c.3828A>G (p.Gln1276=) c.4133+786A>G (n.4133+786A>G) c.4191A>G (p.Gln1397=) c.3492A>G (p.Gln1164=) c.4239A>G (p.Gln1413=)	gnomAD v4
16	g.3739613T>G	CA394564754	CREBBP	c.4245A>C (p.Gln1415His) c.4131A>C (p.Gln1377His) c.2880A>C (p.Gln960His) c.551A>C n.215+786A>C n.3182A>C c.4200A>C (p.Gln1400His) c.3828A>C (p.Gln1276His) c.4133+786A>C (n.4133+786A>C) c.4191A>C (p.Gln1397His) c.3492A>C (p.Gln1164His) c.4239A>C (p.Gln1413His)	gnomAD v4
16	g.3739614T>A	CA394564755	CREBBP	c.4244A>T (p.Gln1415Leu) c.4130A>T (p.Gln1377Leu) c.2879A>T (p.Gln960Leu) c.550A>T n.215+785A>T n.3181A>T c.4199A>T (p.Gln1400Leu) c.3827A>T (p.Gln1276Leu) c.4133+785A>T (n.4133+785A>T) c.4190A>T (p.Gln1397Leu) c.3491A>T (p.Gln1164Leu) c.4238A>T (p.Gln1413Leu)	dbSNP
16	g.3739614T>C	CA394564757	CREBBP	c.4244A>G (p.Gln1415Arg) c.4130A>G (p.Gln1377Arg) c.2879A>G (p.Gln960Arg) c.550A>G n.215+785A>G n.3181A>G c.4199A>G (p.Gln1400Arg) c.3827A>G (p.Gln1276Arg) c.4133+785A>G (n.4133+785A>G) c.4190A>G (p.Gln1397Arg) c.3491A>G (p.Gln1164Arg) c.4238A>G (p.Gln1413Arg)
16	g.3739614T>G	CA394564756	CREBBP	c.4244A>C (p.Gln1415Pro) c.4130A>C (p.Gln1377Pro) c.2879A>C (p.Gln960Pro) c.550A>C n.215+785A>C n.3181A>C c.4199A>C (p.Gln1400Pro) c.3827A>C (p.Gln1276Pro) c.4133+785A>C (n.4133+785A>C) c.4190A>C (p.Gln1397Pro) c.3491A>C (p.Gln1164Pro) c.4238A>C (p.Gln1413Pro)
16	g.3739615G>A	CA394564758	CREBBP	c.4243C>T (p.Gln1415Ter) c.4129C>T (p.Gln1377Ter) c.2878C>T (p.Gln960Ter) c.549C>T n.215+784C>T n.3180C>T c.4198C>T (p.Gln1400Ter) c.3826C>T (p.Gln1276Ter) c.4133+784C>T (n.4133+784C>T) c.4189C>T (p.Gln1397Ter) c.3490C>T (p.Gln1164Ter) c.4237C>T (p.Gln1413Ter)	ClinVar dbSNP COSMIC
16	g.3739615G>C	CA394564759	CREBBP	c.4243C>G (p.Gln1415Glu) c.4129C>G (p.Gln1377Glu) c.2878C>G (p.Gln960Glu) c.549C>G n.215+784C>G n.3180C>G c.4198C>G (p.Gln1400Glu) c.3826C>G (p.Gln1276Glu) c.4133+784C>G (n.4133+784C>G) c.4189C>G (p.Gln1397Glu) c.3490C>G (p.Gln1164Glu) c.4237C>G (p.Gln1413Glu)	dbSNP
16	g.3739615G=	CA2202939842	CREBBP	c.4243C= (p.Gln1415=) c.4129C= (p.Gln1377=) c.2878C= (p.Gln960=) c.549C= n.215+784C= n.3180C= c.4198C= (p.Gln1400=) c.3826C= (p.Gln1276=) c.4133+784C= (n.4133+784C=) c.4189C= (p.Gln1397=) c.3490C= (p.Gln1164=) c.4237C= (p.Gln1413=)
16	g.3739615G>T	CA394564760	CREBBP	c.4243C>A (p.Gln1415Lys) c.4129C>A (p.Gln1377Lys) c.2878C>A (p.Gln960Lys) c.549C>A n.215+784C>A n.3180C>A c.4198C>A (p.Gln1400Lys) c.3826C>A (p.Gln1276Lys) c.4133+784C>A (n.4133+784C>A) c.4189C>A (p.Gln1397Lys) c.3490C>A (p.Gln1164Lys) c.4237C>A (p.Gln1413Lys)	dbSNP
16	g.3739616G>A	CA493280092	CREBBP	c.4242C>T (p.Val1414=) c.4128C>T (p.Val1376=) c.2877C>T (p.Val959=) c.548C>T n.215+783C>T n.3179C>T c.4197C>T (p.Val1399=) c.3825C>T (p.Val1275=) c.4133+783C>T (n.4133+783C>T) c.4188C>T (p.Val1396=) c.3489C>T (p.Val1163=) c.4236C>T (p.Val1412=)	dbSNP
16	g.3739616G>C	CA493280093	CREBBP	c.4242C>G (p.Val1414=) c.4128C>G (p.Val1376=) c.2877C>G (p.Val959=) c.548C>G n.215+783C>G n.3179C>G c.4197C>G (p.Val1399=) c.3825C>G (p.Val1275=) c.4133+783C>G (n.4133+783C>G) c.4188C>G (p.Val1396=) c.3489C>G (p.Val1163=) c.4236C>G (p.Val1412=)	dbSNP
16	g.3739616G>T	CA493280094	CREBBP	c.4242C>A (p.Val1414=) c.4128C>A (p.Val1376=) c.2877C>A (p.Val959=) c.548C>A n.215+783C>A n.3179C>A c.4197C>A (p.Val1399=) c.3825C>A (p.Val1275=) c.4133+783C>A (n.4133+783C>A) c.4188C>A (p.Val1396=) c.3489C>A (p.Val1163=) c.4236C>A (p.Val1412=)	dbSNP
16	g.3739617A>C	CA394564761	CREBBP	c.4241T>G (p.Val1414Gly) c.4127T>G (p.Val1376Gly) c.2876T>G (p.Val959Gly) c.547T>G n.215+782T>G n.3178T>G c.4196T>G (p.Val1399Gly) c.3824T>G (p.Val1275Gly) c.4133+782T>G (n.4133+782T>G) c.4187T>G (p.Val1396Gly) c.3488T>G (p.Val1163Gly) c.4235T>G (p.Val1412Gly)	dbSNP
16	g.3739617A>G	CA394564762	CREBBP	c.4241T>C (p.Val1414Ala) c.4127T>C (p.Val1376Ala) c.2876T>C (p.Val959Ala) c.547T>C n.215+782T>C n.3178T>C c.4196T>C (p.Val1399Ala) c.3824T>C (p.Val1275Ala) c.4133+782T>C (n.4133+782T>C) c.4187T>C (p.Val1396Ala) c.3488T>C (p.Val1163Ala) c.4235T>C (p.Val1412Ala)	dbSNP
16	g.3739617A>T	CA394564763	CREBBP	c.4241T>A (p.Val1414Asp) c.4127T>A (p.Val1376Asp) c.2876T>A (p.Val959Asp) c.547T>A n.215+782T>A n.3178T>A c.4196T>A (p.Val1399Asp) c.3824T>A (p.Val1275Asp) c.4133+782T>A (n.4133+782T>A) c.4187T>A (p.Val1396Asp) c.3488T>A (p.Val1163Asp) c.4235T>A (p.Val1412Asp)	dbSNP
16	g.3739618C>A	CA394564764	CREBBP	c.4240G>T (p.Val1414Phe) c.4126G>T (p.Val1376Phe) c.2875G>T (p.Val959Phe) c.546G>T n.215+781G>T n.3177G>T c.4195G>T (p.Val1399Phe) c.3823G>T (p.Val1275Phe) c.4133+781G>T (n.4133+781G>T) c.4186G>T (p.Val1396Phe) c.3487G>T (p.Val1163Phe) c.4234G>T (p.Val1412Phe)
16	g.3739618C=	CA2202939845	CREBBP	c.4240G= (p.Val1414=) c.4126G= (p.Val1376=) c.2875G= (p.Val959=) c.546G= n.215+781G= n.3177G= c.4195G= (p.Val1399=) c.3823G= (p.Val1275=) c.4133+781G= (n.4133+781G=) c.4186G= (p.Val1396=) c.3487G= (p.Val1163=) c.4234G= (p.Val1412=)
16	g.3739618C>G	CA394564765	CREBBP	c.4240G>C (p.Val1414Leu) c.4126G>C (p.Val1376Leu) c.2875G>C (p.Val959Leu) c.546G>C n.215+781G>C n.3177G>C c.4195G>C (p.Val1399Leu) c.3823G>C (p.Val1275Leu) c.4133+781G>C (n.4133+781G>C) c.4186G>C (p.Val1396Leu) c.3487G>C (p.Val1163Leu) c.4234G>C (p.Val1412Leu)	dbSNP
16	g.3739618C>T	CA7869580	CREBBP	c.4240G>A (p.Val1414Ile) c.4126G>A (p.Val1376Ile) c.2875G>A (p.Val959Ile) c.546G>A n.215+781G>A n.3177G>A c.4195G>A (p.Val1399Ile) c.3823G>A (p.Val1275Ile) c.4133+781G>A (n.4133+781G>A) c.4186G>A (p.Val1396Ile) c.3487G>A (p.Val1163Ile) c.4234G>A (p.Val1412Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3739619G>A	CA7869581	CREBBP	c.4239C>T (p.His1413=) c.4125C>T (p.His1375=) c.2874C>T (p.His958=) c.545C>T n.215+780C>T n.3176C>T c.4194C>T (p.His1398=) c.3822C>T (p.His1274=) c.4133+780C>T (n.4133+780C>T) c.4185C>T (p.His1395=) c.3486C>T (p.His1162=) c.4233C>T (p.His1411=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739619G>C	CA394564766	CREBBP	c.4239C>G (p.His1413Gln) c.4125C>G (p.His1375Gln) c.2874C>G (p.His958Gln) c.545C>G n.215+780C>G n.3176C>G c.4194C>G (p.His1398Gln) c.3822C>G (p.His1274Gln) c.4133+780C>G (n.4133+780C>G) c.4185C>G (p.His1395Gln) c.3486C>G (p.His1162Gln) c.4233C>G (p.His1411Gln)	dbSNP
16	g.3739619G=	CA2202939848	CREBBP	c.4239C= (p.His1413=) c.4125C= (p.His1375=) c.2874C= (p.His958=) c.545C= n.215+780C= n.3176C= c.4194C= (p.His1398=) c.3822C= (p.His1274=) c.4133+780C= (n.4133+780C=) c.4185C= (p.His1395=) c.3486C= (p.His1162=) c.4233C= (p.His1411=)
16	g.3739619G>T	CA394564767	CREBBP	c.4239C>A (p.His1413Gln) c.4125C>A (p.His1375Gln) c.2874C>A (p.His958Gln) c.545C>A n.215+780C>A n.3176C>A c.4194C>A (p.His1398Gln) c.3822C>A (p.His1274Gln) c.4133+780C>A (n.4133+780C>A) c.4185C>A (p.His1395Gln) c.3486C>A (p.His1162Gln) c.4233C>A (p.His1411Gln)	dbSNP
16	g.3739620T>A	CA394564768	CREBBP	c.4238A>T (p.His1413Leu) c.4124A>T (p.His1375Leu) c.2873A>T (p.His958Leu) c.544A>T n.215+779A>T n.3175A>T c.4193A>T (p.His1398Leu) c.3821A>T (p.His1274Leu) c.4133+779A>T (n.4133+779A>T) c.4184A>T (p.His1395Leu) c.3485A>T (p.His1162Leu) c.4232A>T (p.His1411Leu)	dbSNP
16	g.3739620T>C	CA394564770	CREBBP	c.4238A>G (p.His1413Arg) c.4124A>G (p.His1375Arg) c.2873A>G (p.His958Arg) c.544A>G n.215+779A>G n.3175A>G c.4193A>G (p.His1398Arg) c.3821A>G (p.His1274Arg) c.4133+779A>G (n.4133+779A>G) c.4184A>G (p.His1395Arg) c.3485A>G (p.His1162Arg) c.4232A>G (p.His1411Arg)	dbSNP
16	g.3739620T>G	CA394564769	CREBBP	c.4238A>C (p.His1413Pro) c.4124A>C (p.His1375Pro) c.2873A>C (p.His958Pro) c.544A>C n.215+779A>C n.3175A>C c.4193A>C (p.His1398Pro) c.3821A>C (p.His1274Pro) c.4133+779A>C (n.4133+779A>C) c.4184A>C (p.His1395Pro) c.3485A>C (p.His1162Pro) c.4232A>C (p.His1411Pro)	dbSNP
16	g.3739621G>A	CA394564771	CREBBP	c.4237C>T (p.His1413Tyr) c.4123C>T (p.His1375Tyr) c.2872C>T (p.His958Tyr) c.543C>T n.215+778C>T n.3174C>T c.4192C>T (p.His1398Tyr) c.3820C>T (p.His1274Tyr) c.4133+778C>T (n.4133+778C>T) c.4183C>T (p.His1395Tyr) c.3484C>T (p.His1162Tyr) c.4231C>T (p.His1411Tyr)	dbSNP COSMIC
16	g.3739621G>C	CA394564772	CREBBP	c.4237C>G (p.His1413Asp) c.4123C>G (p.His1375Asp) c.2872C>G (p.His958Asp) c.543C>G n.215+778C>G n.3174C>G c.4192C>G (p.His1398Asp) c.3820C>G (p.His1274Asp) c.4133+778C>G (n.4133+778C>G) c.4183C>G (p.His1395Asp) c.3484C>G (p.His1162Asp) c.4231C>G (p.His1411Asp)	dbSNP
16	g.3739621G>T	CA394564773	CREBBP	c.4237C>A (p.His1413Asn) c.4123C>A (p.His1375Asn) c.2872C>A (p.His958Asn) c.543C>A n.215+778C>A n.3174C>A c.4192C>A (p.His1398Asn) c.3820C>A (p.His1274Asn) c.4133+778C>A (n.4133+778C>A) c.4183C>A (p.His1395Asn) c.3484C>A (p.His1162Asn) c.4231C>A (p.His1411Asn)	dbSNP
16	g.3739622C>A	CA394564774	CREBBP	c.4236G>T (p.Met1412Ile) c.4122G>T (p.Met1374Ile) c.2871G>T (p.Met957Ile) c.542G>T n.215+777G>T n.3173G>T c.4191G>T (p.Met1397Ile) c.3819G>T (p.Met1273Ile) c.4133+777G>T (n.4133+777G>T) c.4182G>T (p.Met1394Ile) c.3483G>T (p.Met1161Ile) c.4230G>T (p.Met1410Ile)
16	g.3739622C>G	CA394564775	CREBBP	c.4236G>C (p.Met1412Ile) c.4122G>C (p.Met1374Ile) c.2871G>C (p.Met957Ile) c.542G>C n.215+777G>C n.3173G>C c.4191G>C (p.Met1397Ile) c.3819G>C (p.Met1273Ile) c.4133+777G>C (n.4133+777G>C) c.4182G>C (p.Met1394Ile) c.3483G>C (p.Met1161Ile) c.4230G>C (p.Met1410Ile)	dbSNP
16	g.3739622C>T	CA394564776	CREBBP	c.4236G>A (p.Met1412Ile) c.4122G>A (p.Met1374Ile) c.2871G>A (p.Met957Ile) c.542G>A n.215+777G>A n.3173G>A c.4191G>A (p.Met1397Ile) c.3819G>A (p.Met1273Ile) c.4133+777G>A (n.4133+777G>A) c.4182G>A (p.Met1394Ile) c.3483G>A (p.Met1161Ile) c.4230G>A (p.Met1410Ile)	dbSNP
16	g.3739623A>C	CA394564777	CREBBP	c.4235T>G (p.Met1412Arg) c.4121T>G (p.Met1374Arg) c.2870T>G (p.Met957Arg) c.541T>G n.215+776T>G n.3172T>G c.4190T>G (p.Met1397Arg) c.3818T>G (p.Met1273Arg) c.4133+776T>G (n.4133+776T>G) c.4181T>G (p.Met1394Arg) c.3482T>G (p.Met1161Arg) c.4229T>G (p.Met1410Arg)	dbSNP
16	g.3739623A>G	CA394564778	CREBBP	c.4235T>C (p.Met1412Thr) c.4121T>C (p.Met1374Thr) c.2870T>C (p.Met957Thr) c.541T>C n.215+776T>C n.3172T>C c.4190T>C (p.Met1397Thr) c.3818T>C (p.Met1273Thr) c.4133+776T>C (n.4133+776T>C) c.4181T>C (p.Met1394Thr) c.3482T>C (p.Met1161Thr) c.4229T>C (p.Met1410Thr)
16	g.3739623A>T	CA394564779	CREBBP	c.4235T>A (p.Met1412Lys) c.4121T>A (p.Met1374Lys) c.2870T>A (p.Met957Lys) c.541T>A n.215+776T>A n.3172T>A c.4190T>A (p.Met1397Lys) c.3818T>A (p.Met1273Lys) c.4133+776T>A (n.4133+776T>A) c.4181T>A (p.Met1394Lys) c.3482T>A (p.Met1161Lys) c.4229T>A (p.Met1410Lys)	dbSNP
16	g.3739624T>A	CA394564780	CREBBP	c.4234A>T (p.Met1412Leu) c.4120A>T (p.Met1374Leu) c.2869A>T (p.Met957Leu) c.540A>T n.215+775A>T n.3171A>T c.4189A>T (p.Met1397Leu) c.3817A>T (p.Met1273Leu) c.4133+775A>T (n.4133+775A>T) c.4180A>T (p.Met1394Leu) c.3481A>T (p.Met1161Leu) c.4228A>T (p.Met1410Leu)	dbSNP
16	g.3739624T>C	CA394564781	CREBBP	c.4234A>G (p.Met1412Val) c.4120A>G (p.Met1374Val) c.2869A>G (p.Met957Val) c.540A>G n.215+775A>G n.3171A>G c.4189A>G (p.Met1397Val) c.3817A>G (p.Met1273Val) c.4133+775A>G (n.4133+775A>G) c.4180A>G (p.Met1394Val) c.3481A>G (p.Met1161Val) c.4228A>G (p.Met1410Val)	dbSNP
16	g.3739624T>G	CA394564782	CREBBP	c.4234A>C (p.Met1412Leu) c.4120A>C (p.Met1374Leu) c.2869A>C (p.Met957Leu) c.540A>C n.215+775A>C n.3171A>C c.4189A>C (p.Met1397Leu) c.3817A>C (p.Met1273Leu) c.4133+775A>C (n.4133+775A>C) c.4180A>C (p.Met1394Leu) c.3481A>C (p.Met1161Leu) c.4228A>C (p.Met1410Leu)
16	g.3739625T>A	CA493280097	CREBBP	c.4233A>T (p.Gly1411=) c.4119A>T (p.Gly1373=) c.2868A>T (p.Gly956=) c.539A>T n.215+774A>T n.3170A>T c.4188A>T (p.Gly1396=) c.3816A>T (p.Gly1272=) c.4133+774A>T (n.4133+774A>T) c.4179A>T (p.Gly1393=) c.3480A>T (p.Gly1160=) c.4227A>T (p.Gly1409=)
16	g.3739625T>C	CA493280095	CREBBP	c.4233A>G (p.Gly1411=) c.4119A>G (p.Gly1373=) c.2868A>G (p.Gly956=) c.539A>G n.215+774A>G n.3170A>G c.4188A>G (p.Gly1396=) c.3816A>G (p.Gly1272=) c.4133+774A>G (n.4133+774A>G) c.4179A>G (p.Gly1393=) c.3480A>G (p.Gly1160=) c.4227A>G (p.Gly1409=)
16	g.3739625T>G	CA493280096	CREBBP	c.4233A>C (p.Gly1411=) c.4119A>C (p.Gly1373=) c.2868A>C (p.Gly956=) c.539A>C n.215+774A>C n.3170A>C c.4188A>C (p.Gly1396=) c.3816A>C (p.Gly1272=) c.4133+774A>C (n.4133+774A>C) c.4179A>C (p.Gly1393=) c.3480A>C (p.Gly1160=) c.4227A>C (p.Gly1409=)
16	g.3739626C>A	CA394564784	CREBBP	c.4232G>T (p.Gly1411Val) c.4118G>T (p.Gly1373Val) c.2867G>T (p.Gly956Val) c.538G>T n.215+773G>T n.3169G>T c.4187G>T (p.Gly1396Val) c.3815G>T (p.Gly1272Val) c.4133+773G>T (n.4133+773G>T) c.4178G>T (p.Gly1393Val) c.3479G>T (p.Gly1160Val) c.4226G>T (p.Gly1409Val)	ClinVar dbSNP COSMIC
16	g.3739626C=	CA2202939852	CREBBP	c.4232G= (p.Gly1411=) c.4118G= (p.Gly1373=) c.2867G= (p.Gly956=) c.538G= n.215+773G= n.3169G= c.4187G= (p.Gly1396=) c.3815G= (p.Gly1272=) c.4133+773G= (n.4133+773G=) c.4178G= (p.Gly1393=) c.3479G= (p.Gly1160=) c.4226G= (p.Gly1409=)
16	g.3739626C>G	CA394564783	CREBBP	c.4232G>C (p.Gly1411Ala) c.4118G>C (p.Gly1373Ala) c.2867G>C (p.Gly956Ala) c.538G>C n.215+773G>C n.3169G>C c.4187G>C (p.Gly1396Ala) c.3815G>C (p.Gly1272Ala) c.4133+773G>C (n.4133+773G>C) c.4178G>C (p.Gly1393Ala) c.3479G>C (p.Gly1160Ala) c.4226G>C (p.Gly1409Ala)	dbSNP
16	g.3739626C>T	CA276982509	CREBBP	c.4232G>A (p.Gly1411Glu) c.4118G>A (p.Gly1373Glu) c.2867G>A (p.Gly956Glu) c.538G>A n.215+773G>A n.3169G>A c.4187G>A (p.Gly1396Glu) c.3815G>A (p.Gly1272Glu) c.4133+773G>A (n.4133+773G>A) c.4178G>A (p.Gly1393Glu) c.3479G>A (p.Gly1160Glu) c.4226G>A (p.Gly1409Glu)	dbSNP gnomAD v4 COSMIC
16	g.3739627del	CA2580091112	CREBBP	c.4232del (p.Gly1411GlufsTer?) c.4118del (p.Gly1373GlufsTer?) c.2867del (p.Gly956GlufsTer?) c.538del n.215+773del n.3169del c.4187del (p.Gly1396GlufsTer?) c.3815del (p.Gly1272GlufsTer?) c.4133+773del (n.4133+773del) c.4178del (p.Gly1393GlufsTer?) c.3479del (p.Gly1160GlufsTer?) c.4226del (p.Gly1409GlufsTer?)	ClinVar
16	g.3739627C>A	CA394564785	CREBBP	c.4231G>T (p.Gly1411Ter) c.4117G>T (p.Gly1373Ter) c.2866G>T (p.Gly956Ter) c.537G>T n.215+772G>T n.3168G>T c.4186G>T (p.Gly1396Ter) c.3814G>T (p.Gly1272Ter) c.4133+772G>T (n.4133+772G>T) c.4177G>T (p.Gly1393Ter) c.3478G>T (p.Gly1160Ter) c.4225G>T (p.Gly1409Ter)
16	g.3739627C=	CA2202939855	CREBBP	c.4231G= (p.Gly1411=) c.4117G= (p.Gly1373=) c.2866G= (p.Gly956=) c.537G= n.215+772G= n.3168G= c.4186G= (p.Gly1396=) c.3814G= (p.Gly1272=) c.4133+772G= (n.4133+772G=) c.4177G= (p.Gly1393=) c.3478G= (p.Gly1160=) c.4225G= (p.Gly1409=)
16	g.3739627C>G	CA394564786	CREBBP	c.4231G>C (p.Gly1411Arg) c.4117G>C (p.Gly1373Arg) c.2866G>C (p.Gly956Arg) c.537G>C n.215+772G>C n.3168G>C c.4186G>C (p.Gly1396Arg) c.3814G>C (p.Gly1272Arg) c.4133+772G>C (n.4133+772G>C) c.4177G>C (p.Gly1393Arg) c.3478G>C (p.Gly1160Arg) c.4225G>C (p.Gly1409Arg)
16	g.3739627C>T	CA276982512	CREBBP	c.4231G>A (p.Gly1411Arg) c.4117G>A (p.Gly1373Arg) c.2866G>A (p.Gly956Arg) c.537G>A n.215+772G>A n.3168G>A c.4186G>A (p.Gly1396Arg) c.3814G>A (p.Gly1272Arg) c.4133+772G>A (n.4133+772G>A) c.4177G>A (p.Gly1393Arg) c.3478G>A (p.Gly1160Arg) c.4225G>A (p.Gly1409Arg)	dbSNP COSMIC
16	g.3739628A>C	CA394564787	CREBBP	c.4230T>G (p.Phe1410Leu) c.4116T>G (p.Phe1372Leu) c.2865T>G (p.Phe955Leu) c.536T>G n.215+771T>G n.3167T>G c.4185T>G (p.Phe1395Leu) c.3813T>G (p.Phe1271Leu) c.4133+771T>G (n.4133+771T>G) c.4176T>G (p.Phe1392Leu) c.3477T>G (p.Phe1159Leu) c.4224T>G (p.Phe1408Leu)	dbSNP
16	g.3739628A>G	CA493280098	CREBBP	c.4230T>C (p.Phe1410=) c.4116T>C (p.Phe1372=) c.2865T>C (p.Phe955=) c.536T>C n.215+771T>C n.3167T>C c.4185T>C (p.Phe1395=) c.3813T>C (p.Phe1271=) c.4133+771T>C (n.4133+771T>C) c.4176T>C (p.Phe1392=) c.3477T>C (p.Phe1159=) c.4224T>C (p.Phe1408=)
16	g.3739628A>T	CA394564788	CREBBP	c.4230T>A (p.Phe1410Leu) c.4116T>A (p.Phe1372Leu) c.2865T>A (p.Phe955Leu) c.536T>A n.215+771T>A n.3167T>A c.4185T>A (p.Phe1395Leu) c.3813T>A (p.Phe1271Leu) c.4133+771T>A (n.4133+771T>A) c.4176T>A (p.Phe1392Leu) c.3477T>A (p.Phe1159Leu) c.4224T>A (p.Phe1408Leu)	dbSNP
16	g.3739633dup	CA658798529	CREBBP	c.4230dup (p.Gly1411TrpfsTer10) c.4116dup (p.Gly1373TrpfsTer10) c.2865dup (p.Gly956TrpfsTer10) c.536dup n.215+771dup n.3167dup c.4185dup (p.Gly1396TrpfsTer10) c.3813dup (p.Gly1272TrpfsTer10) c.4133+771dup (n.4133+771dup) c.4176dup (p.Gly1393TrpfsTer10) c.3477dup (p.Gly1160TrpfsTer10) c.4224dup (p.Gly1409TrpfsTer10)	ClinVar dbSNP
16	g.3739629A>C	CA394564789	CREBBP	c.4229T>G (p.Phe1410Cys) c.4115T>G (p.Phe1372Cys) c.2864T>G (p.Phe955Cys) c.535T>G n.215+770T>G n.3166T>G c.4184T>G (p.Phe1395Cys) c.3812T>G (p.Phe1271Cys) c.4133+770T>G (n.4133+770T>G) c.4175T>G (p.Phe1392Cys) c.3476T>G (p.Phe1159Cys) c.4223T>G (p.Phe1408Cys)
16	g.3739629A>G	CA394564790	CREBBP	c.4229T>C (p.Phe1410Ser) c.4115T>C (p.Phe1372Ser) c.2864T>C (p.Phe955Ser) c.535T>C n.215+770T>C n.3166T>C c.4184T>C (p.Phe1395Ser) c.3812T>C (p.Phe1271Ser) c.4133+770T>C (n.4133+770T>C) c.4175T>C (p.Phe1392Ser) c.3476T>C (p.Phe1159Ser) c.4223T>C (p.Phe1408Ser)
16	g.3739629A>T	CA394564791	CREBBP	c.4229T>A (p.Phe1410Tyr) c.4115T>A (p.Phe1372Tyr) c.2864T>A (p.Phe955Tyr) c.535T>A n.215+770T>A n.3166T>A c.4184T>A (p.Phe1395Tyr) c.3812T>A (p.Phe1271Tyr) c.4133+770T>A (n.4133+770T>A) c.4175T>A (p.Phe1392Tyr) c.3476T>A (p.Phe1159Tyr) c.4223T>A (p.Phe1408Tyr)	dbSNP
16	g.3739630A>C	CA394564792	CREBBP	c.4228T>G (p.Phe1410Val) c.4114T>G (p.Phe1372Val) c.2863T>G (p.Phe955Val) c.534T>G n.215+769T>G n.3165T>G c.4183T>G (p.Phe1395Val) c.3811T>G (p.Phe1271Val) c.4133+769T>G (n.4133+769T>G) c.4174T>G (p.Phe1392Val) c.3475T>G (p.Phe1159Val) c.4222T>G (p.Phe1408Val)
16	g.3739630A>G	CA394564793	CREBBP	c.4228T>C (p.Phe1410Leu) c.4114T>C (p.Phe1372Leu) c.2863T>C (p.Phe955Leu) c.534T>C n.215+769T>C n.3165T>C c.4183T>C (p.Phe1395Leu) c.3811T>C (p.Phe1271Leu) c.4133+769T>C (n.4133+769T>C) c.4174T>C (p.Phe1392Leu) c.3475T>C (p.Phe1159Leu) c.4222T>C (p.Phe1408Leu)
16	g.3739630A>T	CA394564794	CREBBP	c.4228T>A (p.Phe1410Ile) c.4114T>A (p.Phe1372Ile) c.2863T>A (p.Phe955Ile) c.534T>A n.215+769T>A n.3165T>A c.4183T>A (p.Phe1395Ile) c.3811T>A (p.Phe1271Ile) c.4133+769T>A (n.4133+769T>A) c.4174T>A (p.Phe1392Ile) c.3475T>A (p.Phe1159Ile) c.4222T>A (p.Phe1408Ile)	dbSNP
16	g.3739631A>C	CA394564795	CREBBP	c.4227T>G (p.Phe1409Leu) c.4113T>G (p.Phe1371Leu) c.2862T>G (p.Phe954Leu) c.533T>G n.215+768T>G n.3164T>G c.4182T>G (p.Phe1394Leu) c.3810T>G (p.Phe1270Leu) c.4133+768T>G (n.4133+768T>G) c.4173T>G (p.Phe1391Leu) c.3474T>G (p.Phe1158Leu) c.4221T>G (p.Phe1407Leu)
16	g.3739631A>G	CA493280099	CREBBP	c.4227T>C (p.Phe1409=) c.4113T>C (p.Phe1371=) c.2862T>C (p.Phe954=) c.533T>C n.215+768T>C n.3164T>C c.4182T>C (p.Phe1394=) c.3810T>C (p.Phe1270=) c.4133+768T>C (n.4133+768T>C) c.4173T>C (p.Phe1391=) c.3474T>C (p.Phe1158=) c.4221T>C (p.Phe1407=)	dbSNP
16	g.3739631A>T	CA394564796	CREBBP	c.4227T>A (p.Phe1409Leu) c.4113T>A (p.Phe1371Leu) c.2862T>A (p.Phe954Leu) c.533T>A n.215+768T>A n.3164T>A c.4182T>A (p.Phe1394Leu) c.3810T>A (p.Phe1270Leu) c.4133+768T>A (n.4133+768T>A) c.4173T>A (p.Phe1391Leu) c.3474T>A (p.Phe1158Leu) c.4221T>A (p.Phe1407Leu)
16	g.3739632A=	CA2202939865	CREBBP	c.4226T= (p.Phe1409=) c.4112T= (p.Phe1371=) c.2861T= (p.Phe954=) c.532T= n.215+767T= n.3163T= c.4181T= (p.Phe1394=) c.3809T= (p.Phe1270=) c.4133+767T= (n.4133+767T=) c.4172T= (p.Phe1391=) c.3473T= (p.Phe1158=) c.4220T= (p.Phe1407=)
16	g.3739632A>C	CA394564798	CREBBP	c.4226T>G (p.Phe1409Cys) c.4112T>G (p.Phe1371Cys) c.2861T>G (p.Phe954Cys) c.532T>G n.215+767T>G n.3163T>G c.4181T>G (p.Phe1394Cys) c.3809T>G (p.Phe1270Cys) c.4133+767T>G (n.4133+767T>G) c.4172T>G (p.Phe1391Cys) c.3473T>G (p.Phe1158Cys) c.4220T>G (p.Phe1407Cys)
16	g.3739632A>G	CA271408	CREBBP	c.4226T>C (p.Phe1409Ser) c.4112T>C (p.Phe1371Ser) c.2861T>C (p.Phe954Ser) c.532T>C n.215+767T>C n.3163T>C c.4181T>C (p.Phe1394Ser) c.3809T>C (p.Phe1270Ser) c.4133+767T>C (n.4133+767T>C) c.4172T>C (p.Phe1391Ser) c.3473T>C (p.Phe1158Ser) c.4220T>C (p.Phe1407Ser)	ClinVar dbSNP
16	g.3739632A>T	CA394564797	CREBBP	c.4226T>A (p.Phe1409Tyr) c.4112T>A (p.Phe1371Tyr) c.2861T>A (p.Phe954Tyr) c.532T>A n.215+767T>A n.3163T>A c.4181T>A (p.Phe1394Tyr) c.3809T>A (p.Phe1270Tyr) c.4133+767T>A (n.4133+767T>A) c.4172T>A (p.Phe1391Tyr) c.3473T>A (p.Phe1158Tyr) c.4220T>A (p.Phe1407Tyr)	dbSNP
16	g.3739633A=	CA2202939869	CREBBP	c.4225T= (p.Phe1409=) c.4111T= (p.Phe1371=) c.2860T= (p.Phe954=) c.531T= n.215+766T= n.3162T= c.4180T= (p.Phe1394=) c.3808T= (p.Phe1270=) c.4133+766T= (n.4133+766T=) c.4171T= (p.Phe1391=) c.3472T= (p.Phe1158=) c.4219T= (p.Phe1407=)
16	g.3739633A>C	CA394564799	CREBBP	c.4225T>G (p.Phe1409Val) c.4111T>G (p.Phe1371Val) c.2860T>G (p.Phe954Val) c.531T>G n.215+766T>G n.3162T>G c.4180T>G (p.Phe1394Val) c.3808T>G (p.Phe1270Val) c.4133+766T>G (n.4133+766T>G) c.4171T>G (p.Phe1391Val) c.3472T>G (p.Phe1158Val) c.4219T>G (p.Phe1407Val)
16	g.3739633A>G	CA394564801	CREBBP	c.4225T>C (p.Phe1409Leu) c.4111T>C (p.Phe1371Leu) c.2860T>C (p.Phe954Leu) c.531T>C n.215+766T>C n.3162T>C c.4180T>C (p.Phe1394Leu) c.3808T>C (p.Phe1270Leu) c.4133+766T>C (n.4133+766T>C) c.4171T>C (p.Phe1391Leu) c.3472T>C (p.Phe1158Leu) c.4219T>C (p.Phe1407Leu)	dbSNP gnomAD v2 gnomAD v4
16	g.3739633A>T	CA394564800	CREBBP	c.4225T>A (p.Phe1409Ile) c.4111T>A (p.Phe1371Ile) c.2860T>A (p.Phe954Ile) c.531T>A n.215+766T>A n.3162T>A c.4180T>A (p.Phe1394Ile) c.3808T>A (p.Phe1270Ile) c.4133+766T>A (n.4133+766T>A) c.4171T>A (p.Phe1391Ile) c.3472T>A (p.Phe1158Ile) c.4219T>A (p.Phe1407Ile)	dbSNP
16	g.3739634del	CA493280101	CREBBP	c.4224del (p.Phe1410LeufsTer?) c.4110del (p.Phe1372LeufsTer?) c.2859del (p.Phe955LeufsTer?) c.530del n.215+765del n.3161del c.4179del (p.Phe1395LeufsTer?) c.3807del (p.Phe1271LeufsTer?) c.4133+765del (n.4133+765del) c.4170del (p.Phe1392LeufsTer?) c.3471del (p.Phe1159LeufsTer?) c.4218del (p.Phe1408LeufsTer?)	COSMIC
16	g.3739634G>A	CA493280100	CREBBP	c.4224C>T (p.Cys1408=) c.4110C>T (p.Cys1370=) c.2859C>T (p.Cys953=) c.530C>T n.215+765C>T n.3161C>T c.4179C>T (p.Cys1393=) c.3807C>T (p.Cys1269=) c.4133+765C>T (n.4133+765C>T) c.4170C>T (p.Cys1390=) c.3471C>T (p.Cys1157=) c.4218C>T (p.Cys1406=)	dbSNP
16	g.3739634G>C	CA394564802	CREBBP	c.4224C>G (p.Cys1408Trp) c.4110C>G (p.Cys1370Trp) c.2859C>G (p.Cys953Trp) c.530C>G n.215+765C>G n.3161C>G c.4179C>G (p.Cys1393Trp) c.3807C>G (p.Cys1269Trp) c.4133+765C>G (n.4133+765C>G) c.4170C>G (p.Cys1390Trp) c.3471C>G (p.Cys1157Trp) c.4218C>G (p.Cys1406Trp)	dbSNP
16	g.3739634G>T	CA394564803	CREBBP	c.4224C>A (p.Cys1408Ter) c.4110C>A (p.Cys1370Ter) c.2859C>A (p.Cys953Ter) c.530C>A n.215+765C>A n.3161C>A c.4179C>A (p.Cys1393Ter) c.3807C>A (p.Cys1269Ter) c.4133+765C>A (n.4133+765C>A) c.4170C>A (p.Cys1390Ter) c.3471C>A (p.Cys1157Ter) c.4218C>A (p.Cys1406Ter)
16	g.3739635C>A	CA394564804	CREBBP	c.4223G>T (p.Cys1408Phe) c.4109G>T (p.Cys1370Phe) c.2858G>T (p.Cys953Phe) c.529G>T n.215+764G>T n.3160G>T c.4178G>T (p.Cys1393Phe) c.3806G>T (p.Cys1269Phe) c.4133+764G>T (n.4133+764G>T) c.4169G>T (p.Cys1390Phe) c.3470G>T (p.Cys1157Phe) c.4217G>T (p.Cys1406Phe)	dbSNP
16	g.3739635C>G	CA394564805	CREBBP	c.4223G>C (p.Cys1408Ser) c.4109G>C (p.Cys1370Ser) c.2858G>C (p.Cys953Ser) c.529G>C n.215+764G>C n.3160G>C c.4178G>C (p.Cys1393Ser) c.3806G>C (p.Cys1269Ser) c.4133+764G>C (n.4133+764G>C) c.4169G>C (p.Cys1390Ser) c.3470G>C (p.Cys1157Ser) c.4217G>C (p.Cys1406Ser)	dbSNP
16	g.3739635C>T	CA394564806	CREBBP	c.4223G>A (p.Cys1408Tyr) c.4109G>A (p.Cys1370Tyr) c.2858G>A (p.Cys953Tyr) c.529G>A n.215+764G>A n.3160G>A c.4178G>A (p.Cys1393Tyr) c.3806G>A (p.Cys1269Tyr) c.4133+764G>A (n.4133+764G>A) c.4169G>A (p.Cys1390Tyr) c.3470G>A (p.Cys1157Tyr) c.4217G>A (p.Cys1406Tyr)	dbSNP COSMIC
16	g.3739636A>C	CA394564807	CREBBP	c.4222T>G (p.Cys1408Gly) c.4108T>G (p.Cys1370Gly) c.2857T>G (p.Cys953Gly) c.528T>G n.215+763T>G n.3159T>G c.4177T>G (p.Cys1393Gly) c.3805T>G (p.Cys1269Gly) c.4133+763T>G (n.4133+763T>G) c.4168T>G (p.Cys1390Gly) c.3469T>G (p.Cys1157Gly) c.4216T>G (p.Cys1406Gly)
16	g.3739636A>G	CA394564808	CREBBP	c.4222T>C (p.Cys1408Arg) c.4108T>C (p.Cys1370Arg) c.2857T>C (p.Cys953Arg) c.528T>C n.215+763T>C n.3159T>C c.4177T>C (p.Cys1393Arg) c.3805T>C (p.Cys1269Arg) c.4133+763T>C (n.4133+763T>C) c.4168T>C (p.Cys1390Arg) c.3469T>C (p.Cys1157Arg) c.4216T>C (p.Cys1406Arg)	dbSNP
16	g.3739636A>T	CA394564809	CREBBP	c.4222T>A (p.Cys1408Ser) c.4108T>A (p.Cys1370Ser) c.2857T>A (p.Cys953Ser) c.528T>A n.215+763T>A n.3159T>A c.4177T>A (p.Cys1393Ser) c.3805T>A (p.Cys1269Ser) c.4133+763T>A (n.4133+763T>A) c.4168T>A (p.Cys1390Ser) c.3469T>A (p.Cys1157Ser) c.4216T>A (p.Cys1406Ser)	dbSNP
16	g.3739637G>A	CA493280102	CREBBP	c.4221C>T (p.Val1407=) c.4107C>T (p.Val1369=) c.2856C>T (p.Val952=) c.527C>T n.215+762C>T n.3158C>T c.4176C>T (p.Val1392=) c.3804C>T (p.Val1268=) c.4133+762C>T (n.4133+762C>T) c.4167C>T (p.Val1389=) c.3468C>T (p.Val1156=) c.4215C>T (p.Val1405=)	dbSNP gnomAD v4
16	g.3739637G>C	CA493280103	CREBBP	c.4221C>G (p.Val1407=) c.4107C>G (p.Val1369=) c.2856C>G (p.Val952=) c.527C>G n.215+762C>G n.3158C>G c.4176C>G (p.Val1392=) c.3804C>G (p.Val1268=) c.4133+762C>G (n.4133+762C>G) c.4167C>G (p.Val1389=) c.3468C>G (p.Val1156=) c.4215C>G (p.Val1405=)	dbSNP
16	g.3739637G>T	CA493280104	CREBBP	c.4221C>A (p.Val1407=) c.4107C>A (p.Val1369=) c.2856C>A (p.Val952=) c.527C>A n.215+762C>A n.3158C>A c.4176C>A (p.Val1392=) c.3804C>A (p.Val1268=) c.4133+762C>A (n.4133+762C>A) c.4167C>A (p.Val1389=) c.3468C>A (p.Val1156=) c.4215C>A (p.Val1405=)
16	g.3739638A>C	CA394564810	CREBBP	c.4220T>G (p.Val1407Gly) c.4106T>G (p.Val1369Gly) c.2855T>G (p.Val952Gly) c.526T>G n.215+761T>G n.3157T>G c.4175T>G (p.Val1392Gly) c.3803T>G (p.Val1268Gly) c.4133+761T>G (n.4133+761T>G) c.4166T>G (p.Val1389Gly) c.3467T>G (p.Val1156Gly) c.4214T>G (p.Val1405Gly)	dbSNP
16	g.3739638A>G	CA394564811	CREBBP	c.4220T>C (p.Val1407Ala) c.4106T>C (p.Val1369Ala) c.2855T>C (p.Val952Ala) c.526T>C n.215+761T>C n.3157T>C c.4175T>C (p.Val1392Ala) c.3803T>C (p.Val1268Ala) c.4133+761T>C (n.4133+761T>C) c.4166T>C (p.Val1389Ala) c.3467T>C (p.Val1156Ala) c.4214T>C (p.Val1405Ala)
16	g.3739638A>T	CA394564812	CREBBP	c.4220T>A (p.Val1407Asp) c.4106T>A (p.Val1369Asp) c.2855T>A (p.Val952Asp) c.526T>A n.215+761T>A n.3157T>A c.4175T>A (p.Val1392Asp) c.3803T>A (p.Val1268Asp) c.4133+761T>A (n.4133+761T>A) c.4166T>A (p.Val1389Asp) c.3467T>A (p.Val1156Asp) c.4214T>A (p.Val1405Asp)	dbSNP
16	g.3739639C>A	CA394564813	CREBBP	c.4219G>T (p.Val1407Phe) c.4105G>T (p.Val1369Phe) c.2854G>T (p.Val952Phe) c.525G>T n.215+760G>T n.3156G>T c.4174G>T (p.Val1392Phe) c.3802G>T (p.Val1268Phe) c.4133+760G>T (n.4133+760G>T) c.4165G>T (p.Val1389Phe) c.3466G>T (p.Val1156Phe) c.4213G>T (p.Val1405Phe)	dbSNP
16	g.3739639C=	CA2202939873	CREBBP	c.4219G= (p.Val1407=) c.4105G= (p.Val1369=) c.2854G= (p.Val952=) c.525G= n.215+760G= n.3156G= c.4174G= (p.Val1392=) c.3802G= (p.Val1268=) c.4133+760G= (n.4133+760G=) c.4165G= (p.Val1389=) c.3466G= (p.Val1156=) c.4213G= (p.Val1405=)
16	g.3739639C>G	CA394564814	CREBBP	c.4219G>C (p.Val1407Leu) c.4105G>C (p.Val1369Leu) c.2854G>C (p.Val952Leu) c.525G>C n.215+760G>C n.3156G>C c.4174G>C (p.Val1392Leu) c.3802G>C (p.Val1268Leu) c.4133+760G>C (n.4133+760G>C) c.4165G>C (p.Val1389Leu) c.3466G>C (p.Val1156Leu) c.4213G>C (p.Val1405Leu)	dbSNP gnomAD v4
16	g.3739639C>T	CA394564815	CREBBP	c.4219G>A (p.Val1407Ile) c.4105G>A (p.Val1369Ile) c.2854G>A (p.Val952Ile) c.525G>A n.215+760G>A n.3156G>A c.4174G>A (p.Val1392Ile) c.3802G>A (p.Val1268Ile) c.4133+760G>A (n.4133+760G>A) c.4165G>A (p.Val1389Ile) c.3466G>A (p.Val1156Ile) c.4213G>A (p.Val1405Ile)	dbSNP gnomAD v2 gnomAD v4
16	g.3739640A>C	CA394564816	CREBBP	c.4218T>G (p.Asp1406Glu) c.4104T>G (p.Asp1368Glu) c.2853T>G (p.Asp951Glu) c.524T>G n.215+759T>G n.3155T>G c.4173T>G (p.Asp1391Glu) c.3801T>G (p.Asp1267Glu) c.4133+759T>G (n.4133+759T>G) c.4164T>G (p.Asp1388Glu) c.3465T>G (p.Asp1155Glu) c.4212T>G (p.Asp1404Glu)	dbSNP
16	g.3739640A>G	CA493280105	CREBBP	c.4218T>C (p.Asp1406=) c.4104T>C (p.Asp1368=) c.2853T>C (p.Asp951=) c.524T>C n.215+759T>C n.3155T>C c.4173T>C (p.Asp1391=) c.3801T>C (p.Asp1267=) c.4133+759T>C (n.4133+759T>C) c.4164T>C (p.Asp1388=) c.3465T>C (p.Asp1155=) c.4212T>C (p.Asp1404=)
16	g.3739640A>T	CA394564817	CREBBP	c.4218T>A (p.Asp1406Glu) c.4104T>A (p.Asp1368Glu) c.2853T>A (p.Asp951Glu) c.524T>A n.215+759T>A n.3155T>A c.4173T>A (p.Asp1391Glu) c.3801T>A (p.Asp1267Glu) c.4133+759T>A (n.4133+759T>A) c.4164T>A (p.Asp1388Glu) c.3465T>A (p.Asp1155Glu) c.4212T>A (p.Asp1404Glu)	dbSNP gnomAD v4
16	g.3739641T>A	CA394564818	CREBBP	c.4217A>T (p.Asp1406Val) c.4103A>T (p.Asp1368Val) c.2852A>T (p.Asp951Val) c.523A>T n.215+758A>T n.3154A>T c.4172A>T (p.Asp1391Val) c.3800A>T (p.Asp1267Val) c.4133+758A>T (n.4133+758A>T) c.4163A>T (p.Asp1388Val) c.3464A>T (p.Asp1155Val) c.4211A>T (p.Asp1404Val)
16	g.3739641T>C	CA394564819	CREBBP	c.4217A>G (p.Asp1406Gly) c.4103A>G (p.Asp1368Gly) c.2852A>G (p.Asp951Gly) c.523A>G n.215+758A>G n.3154A>G c.4172A>G (p.Asp1391Gly) c.3800A>G (p.Asp1267Gly) c.4133+758A>G (n.4133+758A>G) c.4163A>G (p.Asp1388Gly) c.3464A>G (p.Asp1155Gly) c.4211A>G (p.Asp1404Gly)	dbSNP
16	g.3739641T>G	CA394564820	CREBBP	c.4217A>C (p.Asp1406Ala) c.4103A>C (p.Asp1368Ala) c.2852A>C (p.Asp951Ala) c.523A>C n.215+758A>C n.3154A>C c.4172A>C (p.Asp1391Ala) c.3800A>C (p.Asp1267Ala) c.4133+758A>C (n.4133+758A>C) c.4163A>C (p.Asp1388Ala) c.3464A>C (p.Asp1155Ala) c.4211A>C (p.Asp1404Ala)	gnomAD v4
16	g.3739641T=	CA2202939877	CREBBP	c.4217A= (p.Asp1406=) c.4103A= (p.Asp1368=) c.2852A= (p.Asp951=) c.523A= n.215+758A= n.3154A= c.4172A= (p.Asp1391=) c.3800A= (p.Asp1267=) c.4133+758A= (n.4133+758A=) c.4163A= (p.Asp1388=) c.3464A= (p.Asp1155=) c.4211A= (p.Asp1404=)
16	g.3739642C>A	CA394564821	CREBBP	c.4216G>T (p.Asp1406Tyr) c.4102G>T (p.Asp1368Tyr) c.2851G>T (p.Asp951Tyr) c.522G>T n.215+757G>T n.3153G>T c.4171G>T (p.Asp1391Tyr) c.3799G>T (p.Asp1267Tyr) c.4133+757G>T (n.4133+757G>T) c.4162G>T (p.Asp1388Tyr) c.3463G>T (p.Asp1155Tyr) c.4210G>T (p.Asp1404Tyr)	ClinVar dbSNP
16	g.3739642C=	CA2202939882	CREBBP	c.4216G= (p.Asp1406=) c.4102G= (p.Asp1368=) c.2851G= (p.Asp951=) c.522G= n.215+757G= n.3153G= c.4171G= (p.Asp1391=) c.3799G= (p.Asp1267=) c.4133+757G= (n.4133+757G=) c.4162G= (p.Asp1388=) c.3463G= (p.Asp1155=) c.4210G= (p.Asp1404=)
16	g.3739642C>G	CA394564822	CREBBP	c.4216G>C (p.Asp1406His) c.4102G>C (p.Asp1368His) c.2851G>C (p.Asp951His) c.522G>C n.215+757G>C n.3153G>C c.4171G>C (p.Asp1391His) c.3799G>C (p.Asp1267His) c.4133+757G>C (n.4133+757G>C) c.4162G>C (p.Asp1388His) c.3463G>C (p.Asp1155His) c.4210G>C (p.Asp1404His)	dbSNP
16	g.3739642C>T	CA394564823	CREBBP	c.4216G>A (p.Asp1406Asn) c.4102G>A (p.Asp1368Asn) c.2851G>A (p.Asp951Asn) c.522G>A n.215+757G>A n.3153G>A c.4171G>A (p.Asp1391Asn) c.3799G>A (p.Asp1267Asn) c.4133+757G>A (n.4133+757G>A) c.4162G>A (p.Asp1388Asn) c.3463G>A (p.Asp1155Asn) c.4210G>A (p.Asp1404Asn)	dbSNP
16	g.3739643C>A	CA493280106	CREBBP	c.4215G>T (p.Val1405=) c.4101G>T (p.Val1367=) c.2850G>T (p.Val950=) c.521G>T n.215+756G>T n.3152G>T c.4170G>T (p.Val1390=) c.3798G>T (p.Val1266=) c.4133+756G>T (n.4133+756G>T) c.4161G>T (p.Val1387=) c.3462G>T (p.Val1154=) c.4209G>T (p.Val1403=)	dbSNP
16	g.3739643C=	CA2202939884	CREBBP	c.4215G= (p.Val1405=) c.4101G= (p.Val1367=) c.2850G= (p.Val950=) c.521G= n.215+756G= n.3152G= c.4170G= (p.Val1390=) c.3798G= (p.Val1266=) c.4133+756G= (n.4133+756G=) c.4161G= (p.Val1387=) c.3462G= (p.Val1154=) c.4209G= (p.Val1403=)
16	g.3739643C>G	CA493280107	CREBBP	c.4215G>C (p.Val1405=) c.4101G>C (p.Val1367=) c.2850G>C (p.Val950=) c.521G>C n.215+756G>C n.3152G>C c.4170G>C (p.Val1390=) c.3798G>C (p.Val1266=) c.4133+756G>C (n.4133+756G>C) c.4161G>C (p.Val1387=) c.3462G>C (p.Val1154=) c.4209G>C (p.Val1403=)	dbSNP
16	g.3739643C>T	CA493280108	CREBBP	c.4215G>A (p.Val1405=) c.4101G>A (p.Val1367=) c.2850G>A (p.Val950=) c.521G>A n.215+756G>A n.3152G>A c.4170G>A (p.Val1390=) c.3798G>A (p.Val1266=) c.4133+756G>A (n.4133+756G>A) c.4161G>A (p.Val1387=) c.3462G>A (p.Val1154=) c.4209G>A (p.Val1403=)	dbSNP gnomAD v4
16	g.3739644A>C	CA394564824	CREBBP	c.4214T>G (p.Val1405Gly) c.4100T>G (p.Val1367Gly) c.2849T>G (p.Val950Gly) c.520T>G n.215+755T>G n.3151T>G c.4169T>G (p.Val1390Gly) c.3797T>G (p.Val1266Gly) c.4133+755T>G (n.4133+755T>G) c.4160T>G (p.Val1387Gly) c.3461T>G (p.Val1154Gly) c.4208T>G (p.Val1403Gly)
16	g.3739644A>G	CA394564825	CREBBP	c.4214T>C (p.Val1405Ala) c.4100T>C (p.Val1367Ala) c.2849T>C (p.Val950Ala) c.520T>C n.215+755T>C n.3151T>C c.4169T>C (p.Val1390Ala) c.3797T>C (p.Val1266Ala) c.4133+755T>C (n.4133+755T>C) c.4160T>C (p.Val1387Ala) c.3461T>C (p.Val1154Ala) c.4208T>C (p.Val1403Ala)
16	g.3739644A>T	CA394564826	CREBBP	c.4214T>A (p.Val1405Glu) c.4100T>A (p.Val1367Glu) c.2849T>A (p.Val950Glu) c.520T>A n.215+755T>A n.3151T>A c.4169T>A (p.Val1390Glu) c.3797T>A (p.Val1266Glu) c.4133+755T>A (n.4133+755T>A) c.4160T>A (p.Val1387Glu) c.3461T>A (p.Val1154Glu) c.4208T>A (p.Val1403Glu)	dbSNP
16	g.3739645C>A	CA394564827	CREBBP	c.4213G>T (p.Val1405Leu) c.4099G>T (p.Val1367Leu) c.2848G>T (p.Val950Leu) c.519G>T n.215+754G>T n.3150G>T c.4168G>T (p.Val1390Leu) c.3796G>T (p.Val1266Leu) c.4133+754G>T (n.4133+754G>T) c.4159G>T (p.Val1387Leu) c.3460G>T (p.Val1154Leu) c.4207G>T (p.Val1403Leu)	dbSNP
16	g.3739645C=	CA2202939890	CREBBP	c.4213G= (p.Val1405=) c.4099G= (p.Val1367=) c.2848G= (p.Val950=) c.519G= n.215+754G= n.3150G= c.4168G= (p.Val1390=) c.3796G= (p.Val1266=) c.4133+754G= (n.4133+754G=) c.4159G= (p.Val1387=) c.3460G= (p.Val1154=) c.4207G= (p.Val1403=)
16	g.3739645C>G	CA394564828	CREBBP	c.4213G>C (p.Val1405Leu) c.4099G>C (p.Val1367Leu) c.2848G>C (p.Val950Leu) c.519G>C n.215+754G>C n.3150G>C c.4168G>C (p.Val1390Leu) c.3796G>C (p.Val1266Leu) c.4133+754G>C (n.4133+754G>C) c.4159G>C (p.Val1387Leu) c.3460G>C (p.Val1154Leu) c.4207G>C (p.Val1403Leu)	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.3739645C>T	CA276982518	CREBBP	c.4213G>A (p.Val1405Met) c.4099G>A (p.Val1367Met) c.2848G>A (p.Val950Met) c.519G>A n.215+754G>A n.3150G>A c.4168G>A (p.Val1390Met) c.3796G>A (p.Val1266Met) c.4133+754G>A (n.4133+754G>A) c.4159G>A (p.Val1387Met) c.3460G>A (p.Val1154Met) c.4207G>A (p.Val1403Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3739646G>A	CA493280110	CREBBP	c.4212C>T (p.Gly1404=) c.4098C>T (p.Gly1366=) c.2847C>T (p.Gly949=) c.518C>T n.215+753C>T n.3149C>T c.4167C>T (p.Gly1389=) c.3795C>T (p.Gly1265=) c.4133+753C>T (n.4133+753C>T) c.4158C>T (p.Gly1386=) c.3459C>T (p.Gly1153=) c.4206C>T (p.Gly1402=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3739646G>C	CA493280111	CREBBP	c.4212C>G (p.Gly1404=) c.4098C>G (p.Gly1366=) c.2847C>G (p.Gly949=) c.518C>G n.215+753C>G n.3149C>G c.4167C>G (p.Gly1389=) c.3795C>G (p.Gly1265=) c.4133+753C>G (n.4133+753C>G) c.4158C>G (p.Gly1386=) c.3459C>G (p.Gly1153=) c.4206C>G (p.Gly1402=)	dbSNP
16	g.3739646G=	CA2202939897	CREBBP	c.4212C= (p.Gly1404=) c.4098C= (p.Gly1366=) c.2847C= (p.Gly949=) c.518C= n.215+753C= n.3149C= c.4167C= (p.Gly1389=) c.3795C= (p.Gly1265=) c.4133+753C= (n.4133+753C=) c.4158C= (p.Gly1386=) c.3459C= (p.Gly1153=) c.4206C= (p.Gly1402=)
16	g.3739646G>T	CA493280112	CREBBP	c.4212C>A (p.Gly1404=) c.4098C>A (p.Gly1366=) c.2847C>A (p.Gly949=) c.518C>A n.215+753C>A n.3149C>A c.4167C>A (p.Gly1389=) c.3795C>A (p.Gly1265=) c.4133+753C>A (n.4133+753C>A) c.4158C>A (p.Gly1386=) c.3459C>A (p.Gly1153=) c.4206C>A (p.Gly1402=)
16	g.3739647C>A	CA394564829	CREBBP	c.4211G>T (p.Gly1404Val) c.4097G>T (p.Gly1366Val) c.2846G>T (p.Gly949Val) c.517G>T n.215+752G>T n.3148G>T c.4166G>T (p.Gly1389Val) c.3794G>T (p.Gly1265Val) c.4133+752G>T (n.4133+752G>T) c.4157G>T (p.Gly1386Val) c.3458G>T (p.Gly1153Val) c.4205G>T (p.Gly1402Val)	dbSNP gnomAD v2 COSMIC
16	g.3739647C=	CA2202939899	CREBBP	c.4211G= (p.Gly1404=) c.4097G= (p.Gly1366=) c.2846G= (p.Gly949=) c.517G= n.215+752G= n.3148G= c.4166G= (p.Gly1389=) c.3794G= (p.Gly1265=) c.4133+752G= (n.4133+752G=) c.4157G= (p.Gly1386=) c.3458G= (p.Gly1153=) c.4205G= (p.Gly1402=)
16	g.3739647C>G	CA394564831	CREBBP	c.4211G>C (p.Gly1404Ala) c.4097G>C (p.Gly1366Ala) c.2846G>C (p.Gly949Ala) c.517G>C n.215+752G>C n.3148G>C c.4166G>C (p.Gly1389Ala) c.3794G>C (p.Gly1265Ala) c.4133+752G>C (n.4133+752G>C) c.4157G>C (p.Gly1386Ala) c.3458G>C (p.Gly1153Ala) c.4205G>C (p.Gly1402Ala)	dbSNP
16	g.3739647C>T	CA394564830	CREBBP	c.4211G>A (p.Gly1404Asp) c.4097G>A (p.Gly1366Asp) c.2846G>A (p.Gly949Asp) c.517G>A n.215+752G>A n.3148G>A c.4166G>A (p.Gly1389Asp) c.3794G>A (p.Gly1265Asp) c.4133+752G>A (n.4133+752G>A) c.4157G>A (p.Gly1386Asp) c.3458G>A (p.Gly1153Asp) c.4205G>A (p.Gly1402Asp)	dbSNP
16	g.3739648C>A	CA394564832	CREBBP	c.4210G>T (p.Gly1404Cys) c.4096G>T (p.Gly1366Cys) c.2845G>T (p.Gly949Cys) c.516G>T n.215+751G>T n.3147G>T c.4165G>T (p.Gly1389Cys) c.3793G>T (p.Gly1265Cys) c.4133+751G>T (n.4133+751G>T) c.4156G>T (p.Gly1386Cys) c.3457G>T (p.Gly1153Cys) c.4204G>T (p.Gly1402Cys)	dbSNP
16	g.3739648C>G	CA394564833	CREBBP	c.4210G>C (p.Gly1404Arg) c.4096G>C (p.Gly1366Arg) c.2845G>C (p.Gly949Arg) c.516G>C n.215+751G>C n.3147G>C c.4165G>C (p.Gly1389Arg) c.3793G>C (p.Gly1265Arg) c.4133+751G>C (n.4133+751G>C) c.4156G>C (p.Gly1386Arg) c.3457G>C (p.Gly1153Arg) c.4204G>C (p.Gly1402Arg)	dbSNP
16	g.3739648C>T	CA394564834	CREBBP	c.4210G>A (p.Gly1404Ser) c.4096G>A (p.Gly1366Ser) c.2845G>A (p.Gly949Ser) c.516G>A n.215+751G>A n.3147G>A c.4165G>A (p.Gly1389Ser) c.3793G>A (p.Gly1265Ser) c.4133+751G>A (n.4133+751G>A) c.4156G>A (p.Gly1386Ser) c.3457G>A (p.Gly1153Ser) c.4204G>A (p.Gly1402Ser)	ClinVar dbSNP gnomAD v4
16	g.3739649G>A	CA7869582	CREBBP	c.4209C>T (p.Asp1403=) c.4095C>T (p.Asp1365=) c.2844C>T (p.Asp948=) c.515C>T n.215+750C>T n.3146C>T c.4164C>T (p.Asp1388=) c.3792C>T (p.Asp1264=) c.4133+750C>T (n.4133+750C>T) c.4155C>T (p.Asp1385=) c.3456C>T (p.Asp1152=) c.4203C>T (p.Asp1401=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.3739649G>C	CA394564835	CREBBP	c.4209C>G (p.Asp1403Glu) c.4095C>G (p.Asp1365Glu) c.2844C>G (p.Asp948Glu) c.515C>G n.215+750C>G n.3146C>G c.4164C>G (p.Asp1388Glu) c.3792C>G (p.Asp1264Glu) c.4133+750C>G (n.4133+750C>G) c.4155C>G (p.Asp1385Glu) c.3456C>G (p.Asp1152Glu) c.4203C>G (p.Asp1401Glu)	dbSNP
16	g.3739649G=	CA2202939902	CREBBP	c.4209C= (p.Asp1403=) c.4095C= (p.Asp1365=) c.2844C= (p.Asp948=) c.515C= n.215+750C= n.3146C= c.4164C= (p.Asp1388=) c.3792C= (p.Asp1264=) c.4133+750C= (n.4133+750C=) c.4155C= (p.Asp1385=) c.3456C= (p.Asp1152=) c.4203C= (p.Asp1401=)
16	g.3739649G>T	CA394564836	CREBBP	c.4209C>A (p.Asp1403Glu) c.4095C>A (p.Asp1365Glu) c.2844C>A (p.Asp948Glu) c.515C>A n.215+750C>A n.3146C>A c.4164C>A (p.Asp1388Glu) c.3792C>A (p.Asp1264Glu) c.4133+750C>A (n.4133+750C>A) c.4155C>A (p.Asp1385Glu) c.3456C>A (p.Asp1152Glu) c.4203C>A (p.Asp1401Glu)
16	g.3739650T>A	CA394564837	CREBBP	c.4208A>T (p.Asp1403Val) c.4094A>T (p.Asp1365Val) c.2843A>T (p.Asp948Val) c.514A>T n.215+749A>T n.3145A>T c.4163A>T (p.Asp1388Val) c.3791A>T (p.Asp1264Val) c.4133+749A>T (n.4133+749A>T) c.4154A>T (p.Asp1385Val) c.3455A>T (p.Asp1152Val) c.4202A>T (p.Asp1401Val)	dbSNP
16	g.3739650T>C	CA394564838	CREBBP	c.4208A>G (p.Asp1403Gly) c.4094A>G (p.Asp1365Gly) c.2843A>G (p.Asp948Gly) c.514A>G n.215+749A>G n.3145A>G c.4163A>G (p.Asp1388Gly) c.3791A>G (p.Asp1264Gly) c.4133+749A>G (n.4133+749A>G) c.4154A>G (p.Asp1385Gly) c.3455A>G (p.Asp1152Gly) c.4202A>G (p.Asp1401Gly)	ClinVar dbSNP
16	g.3739650T>G	CA394564839	CREBBP	c.4208A>C (p.Asp1403Ala) c.4094A>C (p.Asp1365Ala) c.2843A>C (p.Asp948Ala) c.514A>C n.215+749A>C n.3145A>C c.4163A>C (p.Asp1388Ala) c.3791A>C (p.Asp1264Ala) c.4133+749A>C (n.4133+749A>C) c.4154A>C (p.Asp1385Ala) c.3455A>C (p.Asp1152Ala) c.4202A>C (p.Asp1401Ala)	dbSNP
16	g.3739651C>A	CA394564840	CREBBP	c.4207G>T (p.Asp1403Tyr) c.4093G>T (p.Asp1365Tyr) c.2842G>T (p.Asp948Tyr) c.513G>T n.215+748G>T n.3144G>T c.4162G>T (p.Asp1388Tyr) c.3790G>T (p.Asp1264Tyr) c.4133+748G>T (n.4133+748G>T) c.4153G>T (p.Asp1385Tyr) c.3454G>T (p.Asp1152Tyr) c.4201G>T (p.Asp1401Tyr)	dbSNP
16	g.3739651C>G	CA394564841	CREBBP	c.4207G>C (p.Asp1403His) c.4093G>C (p.Asp1365His) c.2842G>C (p.Asp948His) c.513G>C n.215+748G>C n.3144G>C c.4162G>C (p.Asp1388His) c.3790G>C (p.Asp1264His) c.4133+748G>C (n.4133+748G>C) c.4153G>C (p.Asp1385His) c.3454G>C (p.Asp1152His) c.4201G>C (p.Asp1401His)	dbSNP
16	g.3739651C>T	CA394564842	CREBBP	c.4207G>A (p.Asp1403Asn) c.4093G>A (p.Asp1365Asn) c.2842G>A (p.Asp948Asn) c.513G>A n.215+748G>A n.3144G>A c.4162G>A (p.Asp1388Asn) c.3790G>A (p.Asp1264Asn) c.4133+748G>A (n.4133+748G>A) c.4153G>A (p.Asp1385Asn) c.3454G>A (p.Asp1152Asn) c.4201G>A (p.Asp1401Asn)	dbSNP gnomAD v4
16	g.3739651_3739652delinsCA	CA2202939907	CREBBP	c.4206_4207delinsTG (p.Ile1402=) c.4092_4093delinsTG (p.Ile1364=) c.2841_2842delinsTG (p.Ile947=) c.512_513delinsTG n.215+747_215+748delinsTG n.3143_3144delinsTG c.4161_4162delinsTG (p.Ile1387=) c.3789_3790delinsTG (p.Ile1263=) c.4133+747_4133+748delinsTG (n.4133+747_4133+748delinsTG) c.4152_4153delinsTG (p.Ile1384=) c.3453_3454delinsTG (p.Ile1151=) c.4200_4201delinsTG (p.Ile1400=)
16	g.3739652A>C	CA394564843	CREBBP	c.4206T>G (p.Ile1402Met) c.4092T>G (p.Ile1364Met) c.2841T>G (p.Ile947Met) c.512T>G n.215+747T>G n.3143T>G c.4161T>G (p.Ile1387Met) c.3789T>G (p.Ile1263Met) c.4133+747T>G (n.4133+747T>G) c.4152T>G (p.Ile1384Met) c.3453T>G (p.Ile1151Met) c.4200T>G (p.Ile1400Met)
16	g.3739652A>G	CA493280114	CREBBP	c.4206T>C (p.Ile1402=) c.4092T>C (p.Ile1364=) c.2841T>C (p.Ile947=) c.512T>C n.215+747T>C n.3143T>C c.4161T>C (p.Ile1387=) c.3789T>C (p.Ile1263=) c.4133+747T>C (n.4133+747T>C) c.4152T>C (p.Ile1384=) c.3453T>C (p.Ile1151=) c.4200T>C (p.Ile1400=)
16	g.3739652A>T	CA493280113	CREBBP	c.4206T>A (p.Ile1402=) c.4092T>A (p.Ile1364=) c.2841T>A (p.Ile947=) c.512T>A n.215+747T>A n.3143T>A c.4161T>A (p.Ile1387=) c.3789T>A (p.Ile1263=) c.4133+747T>A (n.4133+747T>A) c.4152T>A (p.Ile1384=) c.3453T>A (p.Ile1151=) c.4200T>A (p.Ile1400=)	dbSNP
16	g.3739653del	CA915949074	CREBBP	c.4206del (p.Ile1402MetfsTer?) c.4092del (p.Ile1364MetfsTer?) c.2841del (p.Ile947MetfsTer?) c.512del n.215+747del n.3143del c.4161del (p.Ile1387MetfsTer?) c.3789del (p.Ile1263MetfsTer?) c.4133+747del (n.4133+747del) c.4152del (p.Ile1384MetfsTer?) c.3453del (p.Ile1151MetfsTer?) c.4200del (p.Ile1400MetfsTer?)	ClinVar dbSNP
16	g.3739653A>C	CA394564844	CREBBP	c.4205T>G (p.Ile1402Ser) c.4091T>G (p.Ile1364Ser) c.2840T>G (p.Ile947Ser) c.511T>G n.215+746T>G n.3142T>G c.4160T>G (p.Ile1387Ser) c.3788T>G (p.Ile1263Ser) c.4133+746T>G (n.4133+746T>G) c.4151T>G (p.Ile1384Ser) c.3452T>G (p.Ile1151Ser) c.4199T>G (p.Ile1400Ser)	dbSNP
16	g.3739653A>G	CA394564845	CREBBP	c.4205T>C (p.Ile1402Thr) c.4091T>C (p.Ile1364Thr) c.2840T>C (p.Ile947Thr) c.511T>C n.215+746T>C n.3142T>C c.4160T>C (p.Ile1387Thr) c.3788T>C (p.Ile1263Thr) c.4133+746T>C (n.4133+746T>C) c.4151T>C (p.Ile1384Thr) c.3452T>C (p.Ile1151Thr) c.4199T>C (p.Ile1400Thr)	dbSNP
16	g.3739653A>T	CA394564846	CREBBP	c.4205T>A (p.Ile1402Asn) c.4091T>A (p.Ile1364Asn) c.2840T>A (p.Ile947Asn) c.511T>A n.215+746T>A n.3142T>A c.4160T>A (p.Ile1387Asn) c.3788T>A (p.Ile1263Asn) c.4133+746T>A (n.4133+746T>A) c.4151T>A (p.Ile1384Asn) c.3452T>A (p.Ile1151Asn) c.4199T>A (p.Ile1400Asn)	dbSNP
16	g.3739654T>A	CA394564847	CREBBP	c.4204A>T (p.Ile1402Phe) c.4090A>T (p.Ile1364Phe) c.2839A>T (p.Ile947Phe) c.510A>T n.215+745A>T n.3141A>T c.4159A>T (p.Ile1387Phe) c.3787A>T (p.Ile1263Phe) c.4133+745A>T (n.4133+745A>T) c.4150A>T (p.Ile1384Phe) c.3451A>T (p.Ile1151Phe) c.4198A>T (p.Ile1400Phe)	dbSNP
16	g.3739654T>C	CA394564848	CREBBP	c.4204A>G (p.Ile1402Val) c.4090A>G (p.Ile1364Val) c.2839A>G (p.Ile947Val) c.510A>G n.215+745A>G n.3141A>G c.4159A>G (p.Ile1387Val) c.3787A>G (p.Ile1263Val) c.4133+745A>G (n.4133+745A>G) c.4150A>G (p.Ile1384Val) c.3451A>G (p.Ile1151Val) c.4198A>G (p.Ile1400Val)	dbSNP gnomAD v3 gnomAD v4
16	g.3739654T>G	CA394564849	CREBBP	c.4204A>C (p.Ile1402Leu) c.4090A>C (p.Ile1364Leu) c.2839A>C (p.Ile947Leu) c.510A>C n.215+745A>C n.3141A>C c.4159A>C (p.Ile1387Leu) c.3787A>C (p.Ile1263Leu) c.4133+745A>C (n.4133+745A>C) c.4150A>C (p.Ile1384Leu) c.3451A>C (p.Ile1151Leu) c.4198A>C (p.Ile1400Leu)
16	g.3739654T=	CA2202939916	CREBBP	c.4204A= (p.Ile1402=) c.4090A= (p.Ile1364=) c.2839A= (p.Ile947=) c.510A= n.215+745A= n.3141A= c.4159A= (p.Ile1387=) c.3787A= (p.Ile1263=) c.4133+745A= (n.4133+745A=) c.4150A= (p.Ile1384=) c.3451A= (p.Ile1151=) c.4198A= (p.Ile1400=)
16	g.3739655T>A	CA394564850	CREBBP	c.4203A>T (p.Glu1401Asp) c.4089A>T (p.Glu1363Asp) c.2838A>T (p.Glu946Asp) c.509A>T n.215+744A>T n.3140A>T c.4158A>T (p.Glu1386Asp) c.3786A>T (p.Glu1262Asp) c.4133+744A>T (n.4133+744A>T) c.4149A>T (p.Glu1383Asp) c.3450A>T (p.Glu1150Asp) c.4197A>T (p.Glu1399Asp)
16	g.3739655T>C	CA7869583	CREBBP	c.4203A>G (p.Glu1401=) c.4089A>G (p.Glu1363=) c.2838A>G (p.Glu946=) c.509A>G n.215+744A>G n.3140A>G c.4158A>G (p.Glu1386=) c.3786A>G (p.Glu1262=) c.4133+744A>G (n.4133+744A>G) c.4149A>G (p.Glu1383=) c.3450A>G (p.Glu1150=) c.4197A>G (p.Glu1399=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3739655T>G	CA394564851	CREBBP	c.4203A>C (p.Glu1401Asp) c.4089A>C (p.Glu1363Asp) c.2838A>C (p.Glu946Asp) c.509A>C n.215+744A>C n.3140A>C c.4158A>C (p.Glu1386Asp) c.3786A>C (p.Glu1262Asp) c.4133+744A>C (n.4133+744A>C) c.4149A>C (p.Glu1383Asp) c.3450A>C (p.Glu1150Asp) c.4197A>C (p.Glu1399Asp)	gnomAD v4
16	g.3739655T=	CA2202939920	CREBBP	c.4203A= (p.Glu1401=) c.4089A= (p.Glu1363=) c.2838A= (p.Glu946=) c.509A= n.215+744A= n.3140A= c.4158A= (p.Glu1386=) c.3786A= (p.Glu1262=) c.4133+744A= (n.4133+744A=) c.4149A= (p.Glu1383=) c.3450A= (p.Glu1150=) c.4197A= (p.Glu1399=)
16	g.3739656T>A	CA394564852	CREBBP	c.4202A>T (p.Glu1401Val) c.4088A>T (p.Glu1363Val) c.2837A>T (p.Glu946Val) c.508A>T n.215+743A>T n.3139A>T c.4157A>T (p.Glu1386Val) c.3785A>T (p.Glu1262Val) c.4133+743A>T (n.4133+743A>T) c.4148A>T (p.Glu1383Val) c.3449A>T (p.Glu1150Val) c.4196A>T (p.Glu1399Val)	dbSNP
16	g.3739656T>C	CA394564853	CREBBP	c.4202A>G (p.Glu1401Gly) c.4088A>G (p.Glu1363Gly) c.2837A>G (p.Glu946Gly) c.508A>G n.215+743A>G n.3139A>G c.4157A>G (p.Glu1386Gly) c.3785A>G (p.Glu1262Gly) c.4133+743A>G (n.4133+743A>G) c.4148A>G (p.Glu1383Gly) c.3449A>G (p.Glu1150Gly) c.4196A>G (p.Glu1399Gly)
16	g.3739656T>G	CA394564854	CREBBP	c.4202A>C (p.Glu1401Ala) c.4088A>C (p.Glu1363Ala) c.2837A>C (p.Glu946Ala) c.508A>C n.215+743A>C n.3139A>C c.4157A>C (p.Glu1386Ala) c.3785A>C (p.Glu1262Ala) c.4133+743A>C (n.4133+743A>C) c.4148A>C (p.Glu1383Ala) c.3449A>C (p.Glu1150Ala) c.4196A>C (p.Glu1399Ala)
16	g.3739657C>A	CA394564856	CREBBP	c.4201G>T (p.Glu1401Ter) c.4087G>T (p.Glu1363Ter) c.2836G>T (p.Glu946Ter) c.507G>T n.215+742G>T n.3138G>T c.4156G>T (p.Glu1386Ter) c.3784G>T (p.Glu1262Ter) c.4133+742G>T (n.4133+742G>T) c.4147G>T (p.Glu1383Ter) c.3448G>T (p.Glu1150Ter) c.4195G>T (p.Glu1399Ter)
16	g.3739657C>G	CA394564857	CREBBP	c.4201G>C (p.Glu1401Gln) c.4087G>C (p.Glu1363Gln) c.2836G>C (p.Glu946Gln) c.507G>C n.215+742G>C n.3138G>C c.4156G>C (p.Glu1386Gln) c.3784G>C (p.Glu1262Gln) c.4133+742G>C (n.4133+742G>C) c.4147G>C (p.Glu1383Gln) c.3448G>C (p.Glu1150Gln) c.4195G>C (p.Glu1399Gln)
16	g.3739657C>T	CA394564855	CREBBP	c.4201G>A (p.Glu1401Lys) c.4087G>A (p.Glu1363Lys) c.2836G>A (p.Glu946Lys) c.507G>A n.215+742G>A n.3138G>A c.4156G>A (p.Glu1386Lys) c.3784G>A (p.Glu1262Lys) c.4133+742G>A (n.4133+742G>A) c.4147G>A (p.Glu1383Lys) c.3448G>A (p.Glu1150Lys) c.4195G>A (p.Glu1399Lys)
16	g.3739658C>A	CA394564858	CREBBP	c.4200G>T (p.Glu1400Asp) c.4086G>T (p.Glu1362Asp) c.2835G>T (p.Glu945Asp) c.506G>T n.215+741G>T n.3137G>T c.4155G>T (p.Glu1385Asp) c.3783G>T (p.Glu1261Asp) c.4133+741G>T (n.4133+741G>T) c.4146G>T (p.Glu1382Asp) c.3447G>T (p.Glu1149Asp) c.4194G>T (p.Glu1398Asp)	dbSNP
16	g.3739658C=	CA2202939922	CREBBP	c.4200G= (p.Glu1400=) c.4086G= (p.Glu1362=) c.2835G= (p.Glu945=) c.506G= n.215+741G= n.3137G= c.4155G= (p.Glu1385=) c.3783G= (p.Glu1261=) c.4133+741G= (n.4133+741G=) c.4146G= (p.Glu1382=) c.3447G= (p.Glu1149=) c.4194G= (p.Glu1398=)
16	g.3739658C>G	CA394564859	CREBBP	c.4200G>C (p.Glu1400Asp) c.4086G>C (p.Glu1362Asp) c.2835G>C (p.Glu945Asp) c.506G>C n.215+741G>C n.3137G>C c.4155G>C (p.Glu1385Asp) c.3783G>C (p.Glu1261Asp) c.4133+741G>C (n.4133+741G>C) c.4146G>C (p.Glu1382Asp) c.3447G>C (p.Glu1149Asp) c.4194G>C (p.Glu1398Asp)	dbSNP
16	g.3739658C>T	CA493280115	CREBBP	c.4200G>A (p.Glu1400=) c.4086G>A (p.Glu1362=) c.2835G>A (p.Glu945=) c.506G>A n.215+741G>A n.3137G>A c.4155G>A (p.Glu1385=) c.3783G>A (p.Glu1261=) c.4133+741G>A (n.4133+741G>A) c.4146G>A (p.Glu1382=) c.3447G>A (p.Glu1149=) c.4194G>A (p.Glu1398=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739659T>A	CA394564860	CREBBP	c.4199A>T (p.Glu1400Val) c.4085A>T (p.Glu1362Val) c.2834A>T (p.Glu945Val) c.505A>T n.215+740A>T n.3136A>T c.4154A>T (p.Glu1385Val) c.3782A>T (p.Glu1261Val) c.4133+740A>T (n.4133+740A>T) c.4145A>T (p.Glu1382Val) c.3446A>T (p.Glu1149Val) c.4193A>T (p.Glu1398Val)	dbSNP
16	g.3739659T>C	CA394564861	CREBBP	c.4199A>G (p.Glu1400Gly) c.4085A>G (p.Glu1362Gly) c.2834A>G (p.Glu945Gly) c.505A>G n.215+740A>G n.3136A>G c.4154A>G (p.Glu1385Gly) c.3782A>G (p.Glu1261Gly) c.4133+740A>G (n.4133+740A>G) c.4145A>G (p.Glu1382Gly) c.3446A>G (p.Glu1149Gly) c.4193A>G (p.Glu1398Gly)	dbSNP
16	g.3739659T>G	CA394564862	CREBBP	c.4199A>C (p.Glu1400Ala) c.4085A>C (p.Glu1362Ala) c.2834A>C (p.Glu945Ala) c.505A>C n.215+740A>C n.3136A>C c.4154A>C (p.Glu1385Ala) c.3782A>C (p.Glu1261Ala) c.4133+740A>C (n.4133+740A>C) c.4145A>C (p.Glu1382Ala) c.3446A>C (p.Glu1149Ala) c.4193A>C (p.Glu1398Ala)
16	g.3739660C>A	CA394564863	CREBBP	c.4198G>T (p.Glu1400Ter) c.4084G>T (p.Glu1362Ter) c.2833G>T (p.Glu945Ter) c.504G>T n.215+739G>T n.3135G>T c.4153G>T (p.Glu1385Ter) c.3781G>T (p.Glu1261Ter) c.4133+739G>T (n.4133+739G>T) c.4144G>T (p.Glu1382Ter) c.3445G>T (p.Glu1149Ter) c.4192G>T (p.Glu1398Ter)	dbSNP COSMIC
16	g.3739660C>G	CA394564864	CREBBP	c.4198G>C (p.Glu1400Gln) c.4084G>C (p.Glu1362Gln) c.2833G>C (p.Glu945Gln) c.504G>C n.215+739G>C n.3135G>C c.4153G>C (p.Glu1385Gln) c.3781G>C (p.Glu1261Gln) c.4133+739G>C (n.4133+739G>C) c.4144G>C (p.Glu1382Gln) c.3445G>C (p.Glu1149Gln) c.4192G>C (p.Glu1398Gln)	dbSNP
16	g.3739660C>T	CA394564865	CREBBP	c.4198G>A (p.Glu1400Lys) c.4084G>A (p.Glu1362Lys) c.2833G>A (p.Glu945Lys) c.504G>A n.215+739G>A n.3135G>A c.4153G>A (p.Glu1385Lys) c.3781G>A (p.Glu1261Lys) c.4133+739G>A (n.4133+739G>A) c.4144G>A (p.Glu1382Lys) c.3445G>A (p.Glu1149Lys) c.4192G>A (p.Glu1398Lys)	dbSNP COSMIC
16	g.3739661A>C	CA394564866	CREBBP	c.4197T>G (p.Phe1399Leu) c.4083T>G (p.Phe1361Leu) c.2832T>G (p.Phe944Leu) c.503T>G n.215+738T>G n.3134T>G c.4152T>G (p.Phe1384Leu) c.3780T>G (p.Phe1260Leu) c.4133+738T>G (n.4133+738T>G) c.4143T>G (p.Phe1381Leu) c.3444T>G (p.Phe1148Leu) c.4191T>G (p.Phe1397Leu)
16	g.3739661A>G	CA493280116	CREBBP	c.4197T>C (p.Phe1399=) c.4083T>C (p.Phe1361=) c.2832T>C (p.Phe944=) c.503T>C n.215+738T>C n.3134T>C c.4152T>C (p.Phe1384=) c.3780T>C (p.Phe1260=) c.4133+738T>C (n.4133+738T>C) c.4143T>C (p.Phe1381=) c.3444T>C (p.Phe1148=) c.4191T>C (p.Phe1397=)
16	g.3739661A>T	CA394564867	CREBBP	c.4197T>A (p.Phe1399Leu) c.4083T>A (p.Phe1361Leu) c.2832T>A (p.Phe944Leu) c.503T>A n.215+738T>A n.3134T>A c.4152T>A (p.Phe1384Leu) c.3780T>A (p.Phe1260Leu) c.4133+738T>A (n.4133+738T>A) c.4143T>A (p.Phe1381Leu) c.3444T>A (p.Phe1148Leu) c.4191T>A (p.Phe1397Leu)	dbSNP
16	g.3739662A>C	CA394564868	CREBBP	c.4196T>G (p.Phe1399Cys) c.4082T>G (p.Phe1361Cys) c.2831T>G (p.Phe944Cys) c.502T>G n.215+737T>G n.3133T>G c.4151T>G (p.Phe1384Cys) c.3779T>G (p.Phe1260Cys) c.4133+737T>G (n.4133+737T>G) c.4142T>G (p.Phe1381Cys) c.3443T>G (p.Phe1148Cys) c.4190T>G (p.Phe1397Cys)
16	g.3739662A>G	CA394564869	CREBBP	c.4196T>C (p.Phe1399Ser) c.4082T>C (p.Phe1361Ser) c.2831T>C (p.Phe944Ser) c.502T>C n.215+737T>C n.3133T>C c.4151T>C (p.Phe1384Ser) c.3779T>C (p.Phe1260Ser) c.4133+737T>C (n.4133+737T>C) c.4142T>C (p.Phe1381Ser) c.3443T>C (p.Phe1148Ser) c.4190T>C (p.Phe1397Ser)
16	g.3739662A>T	CA394564870	CREBBP	c.4196T>A (p.Phe1399Tyr) c.4082T>A (p.Phe1361Tyr) c.2831T>A (p.Phe944Tyr) c.502T>A n.215+737T>A n.3133T>A c.4151T>A (p.Phe1384Tyr) c.3779T>A (p.Phe1260Tyr) c.4133+737T>A (n.4133+737T>A) c.4142T>A (p.Phe1381Tyr) c.3443T>A (p.Phe1148Tyr) c.4190T>A (p.Phe1397Tyr)	dbSNP
16	g.3739663A>C	CA394564873	CREBBP	c.4195T>G (p.Phe1399Val) c.4081T>G (p.Phe1361Val) c.2830T>G (p.Phe944Val) c.501T>G n.215+736T>G n.3132T>G c.4150T>G (p.Phe1384Val) c.3778T>G (p.Phe1260Val) c.4133+736T>G (n.4133+736T>G) c.4141T>G (p.Phe1381Val) c.3442T>G (p.Phe1148Val) c.4189T>G (p.Phe1397Val)	dbSNP
16	g.3739663A>G	CA394564872	CREBBP	c.4195T>C (p.Phe1399Leu) c.4081T>C (p.Phe1361Leu) c.2830T>C (p.Phe944Leu) c.501T>C n.215+736T>C n.3132T>C c.4150T>C (p.Phe1384Leu) c.3778T>C (p.Phe1260Leu) c.4133+736T>C (n.4133+736T>C) c.4141T>C (p.Phe1381Leu) c.3442T>C (p.Phe1148Leu) c.4189T>C (p.Phe1397Leu)	gnomAD v4
16	g.3739663A>T	CA394564871	CREBBP	c.4195T>A (p.Phe1399Ile) c.4081T>A (p.Phe1361Ile) c.2830T>A (p.Phe944Ile) c.501T>A n.215+736T>A n.3132T>A c.4150T>A (p.Phe1384Ile) c.3778T>A (p.Phe1260Ile) c.4133+736T>A (n.4133+736T>A) c.4141T>A (p.Phe1381Ile) c.3442T>A (p.Phe1148Ile) c.4189T>A (p.Phe1397Ile)	dbSNP
16	g.3739664A=	CA2202939924	CREBBP	c.4194T= (p.Ala1398=) c.4080T= (p.Ala1360=) c.2829T= (p.Ala943=) c.500T= n.215+735T= n.3131T= c.4149T= (p.Ala1383=) c.3777T= (p.Ala1259=) c.4133+735T= (n.4133+735T=) c.4140T= (p.Ala1380=) c.3441T= (p.Ala1147=) c.4188T= (p.Ala1396=)
16	g.3739664A>C	CA493280117	CREBBP	c.4194T>G (p.Ala1398=) c.4080T>G (p.Ala1360=) c.2829T>G (p.Ala943=) c.500T>G n.215+735T>G n.3131T>G c.4149T>G (p.Ala1383=) c.3777T>G (p.Ala1259=) c.4133+735T>G (n.4133+735T>G) c.4140T>G (p.Ala1380=) c.3441T>G (p.Ala1147=) c.4188T>G (p.Ala1396=)
16	g.3739664A>G	CA493280119	CREBBP	c.4194T>C (p.Ala1398=) c.4080T>C (p.Ala1360=) c.2829T>C (p.Ala943=) c.500T>C n.215+735T>C n.3131T>C c.4149T>C (p.Ala1383=) c.3777T>C (p.Ala1259=) c.4133+735T>C (n.4133+735T>C) c.4140T>C (p.Ala1380=) c.3441T>C (p.Ala1147=) c.4188T>C (p.Ala1396=)	dbSNP gnomAD v4
16	g.3739664A>T	CA493280118	CREBBP	c.4194T>A (p.Ala1398=) c.4080T>A (p.Ala1360=) c.2829T>A (p.Ala943=) c.500T>A n.215+735T>A n.3131T>A c.4149T>A (p.Ala1383=) c.3777T>A (p.Ala1259=) c.4133+735T>A (n.4133+735T>A) c.4140T>A (p.Ala1380=) c.3441T>A (p.Ala1147=) c.4188T>A (p.Ala1396=)	dbSNP
16	g.3739665G>A	CA394564874	CREBBP	c.4193C>T (p.Ala1398Val) c.4079C>T (p.Ala1360Val) c.2828C>T (p.Ala943Val) c.499C>T n.215+734C>T n.3130C>T c.4148C>T (p.Ala1383Val) c.3776C>T (p.Ala1259Val) c.4133+734C>T (n.4133+734C>T) c.4139C>T (p.Ala1380Val) c.3440C>T (p.Ala1147Val) c.4187C>T (p.Ala1396Val)	dbSNP gnomAD v4
16	g.3739665G>C	CA394564875	CREBBP	c.4193C>G (p.Ala1398Gly) c.4079C>G (p.Ala1360Gly) c.2828C>G (p.Ala943Gly) c.499C>G n.215+734C>G n.3130C>G c.4148C>G (p.Ala1383Gly) c.3776C>G (p.Ala1259Gly) c.4133+734C>G (n.4133+734C>G) c.4139C>G (p.Ala1380Gly) c.3440C>G (p.Ala1147Gly) c.4187C>G (p.Ala1396Gly)	dbSNP
16	g.3739665G>T	CA394564876	CREBBP	c.4193C>A (p.Ala1398Asp) c.4079C>A (p.Ala1360Asp) c.2828C>A (p.Ala943Asp) c.499C>A n.215+734C>A n.3130C>A c.4148C>A (p.Ala1383Asp) c.3776C>A (p.Ala1259Asp) c.4133+734C>A (n.4133+734C>A) c.4139C>A (p.Ala1380Asp) c.3440C>A (p.Ala1147Asp) c.4187C>A (p.Ala1396Asp)
16	g.3739666C>A	CA394564877	CREBBP	c.4192G>T (p.Ala1398Ser) c.4078G>T (p.Ala1360Ser) c.2827G>T (p.Ala943Ser) c.498G>T n.215+733G>T n.3129G>T c.4147G>T (p.Ala1383Ser) c.3775G>T (p.Ala1259Ser) c.4133+733G>T (n.4133+733G>T) c.4138G>T (p.Ala1380Ser) c.3439G>T (p.Ala1147Ser) c.4186G>T (p.Ala1396Ser)
16	g.3739666C>G	CA394564878	CREBBP	c.4192G>C (p.Ala1398Pro) c.4078G>C (p.Ala1360Pro) c.2827G>C (p.Ala943Pro) c.498G>C n.215+733G>C n.3129G>C c.4147G>C (p.Ala1383Pro) c.3775G>C (p.Ala1259Pro) c.4133+733G>C (n.4133+733G>C) c.4138G>C (p.Ala1380Pro) c.3439G>C (p.Ala1147Pro) c.4186G>C (p.Ala1396Pro)
16	g.3739666C>T	CA394564879	CREBBP	c.4192G>A (p.Ala1398Thr) c.4078G>A (p.Ala1360Thr) c.2827G>A (p.Ala943Thr) c.498G>A n.215+733G>A n.3129G>A c.4147G>A (p.Ala1383Thr) c.3775G>A (p.Ala1259Thr) c.4133+733G>A (n.4133+733G>A) c.4138G>A (p.Ala1380Thr) c.3439G>A (p.Ala1147Thr) c.4186G>A (p.Ala1396Thr)
16	g.3739668_3739671del	CA2695222649	CREBBP	c.4189_4192del (p.Phe1397LeufsTer?) c.4075_4078del (p.Phe1359LeufsTer?) c.2824_2827del (p.Phe942LeufsTer?) c.495_498del n.215+730_215+733del n.3126_3129del c.4144_4147del (p.Phe1382LeufsTer?) c.3772_3775del (p.Phe1258LeufsTer?) c.4133+730_4133+733del (n.4133+730_4133+733del) c.4135_4138del (p.Phe1379LeufsTer?) c.3436_3439del (p.Phe1146LeufsTer?) c.4183_4186del (p.Phe1395LeufsTer?)
16	g.3739667A>C	CA394564880	CREBBP	c.4191T>G (p.Phe1397Leu) c.4077T>G (p.Phe1359Leu) c.2826T>G (p.Phe942Leu) c.497T>G n.215+732T>G n.3128T>G c.4146T>G (p.Phe1382Leu) c.3774T>G (p.Phe1258Leu) c.4133+732T>G (n.4133+732T>G) c.4137T>G (p.Phe1379Leu) c.3438T>G (p.Phe1146Leu) c.4185T>G (p.Phe1395Leu)
16	g.3739667A>G	CA493280120	CREBBP	c.4191T>C (p.Phe1397=) c.4077T>C (p.Phe1359=) c.2826T>C (p.Phe942=) c.497T>C n.215+732T>C n.3128T>C c.4146T>C (p.Phe1382=) c.3774T>C (p.Phe1258=) c.4133+732T>C (n.4133+732T>C) c.4137T>C (p.Phe1379=) c.3438T>C (p.Phe1146=) c.4185T>C (p.Phe1395=)
16	g.3739667A>T	CA394564881	CREBBP	c.4191T>A (p.Phe1397Leu) c.4077T>A (p.Phe1359Leu) c.2826T>A (p.Phe942Leu) c.497T>A n.215+732T>A n.3128T>A c.4146T>A (p.Phe1382Leu) c.3774T>A (p.Phe1258Leu) c.4133+732T>A (n.4133+732T>A) c.4137T>A (p.Phe1379Leu) c.3438T>A (p.Phe1146Leu) c.4185T>A (p.Phe1395Leu)
16	g.3739668A>C	CA394564882	CREBBP	c.4190T>G (p.Phe1397Cys) c.4076T>G (p.Phe1359Cys) c.2825T>G (p.Phe942Cys) c.496T>G n.215+731T>G n.3127T>G c.4145T>G (p.Phe1382Cys) c.3773T>G (p.Phe1258Cys) c.4133+731T>G (n.4133+731T>G) c.4136T>G (p.Phe1379Cys) c.3437T>G (p.Phe1146Cys) c.4184T>G (p.Phe1395Cys)	gnomAD v4
16	g.3739668A>G	CA394564883	CREBBP	c.4190T>C (p.Phe1397Ser) c.4076T>C (p.Phe1359Ser) c.2825T>C (p.Phe942Ser) c.496T>C n.215+731T>C n.3127T>C c.4145T>C (p.Phe1382Ser) c.3773T>C (p.Phe1258Ser) c.4133+731T>C (n.4133+731T>C) c.4136T>C (p.Phe1379Ser) c.3437T>C (p.Phe1146Ser) c.4184T>C (p.Phe1395Ser)	dbSNP
16	g.3739668A>T	CA394564884	CREBBP	c.4190T>A (p.Phe1397Tyr) c.4076T>A (p.Phe1359Tyr) c.2825T>A (p.Phe942Tyr) c.496T>A n.215+731T>A n.3127T>A c.4145T>A (p.Phe1382Tyr) c.3773T>A (p.Phe1258Tyr) c.4133+731T>A (n.4133+731T>A) c.4136T>A (p.Phe1379Tyr) c.3437T>A (p.Phe1146Tyr) c.4184T>A (p.Phe1395Tyr)	dbSNP
16	g.3739669A>C	CA394564885	CREBBP	c.4189T>G (p.Phe1397Val) c.4075T>G (p.Phe1359Val) c.2824T>G (p.Phe942Val) c.495T>G n.215+730T>G n.3126T>G c.4144T>G (p.Phe1382Val) c.3772T>G (p.Phe1258Val) c.4133+730T>G (n.4133+730T>G) c.4135T>G (p.Phe1379Val) c.3436T>G (p.Phe1146Val) c.4183T>G (p.Phe1395Val)	dbSNP
16	g.3739669A>G	CA394564886	CREBBP	c.4189T>C (p.Phe1397Leu) c.4075T>C (p.Phe1359Leu) c.2824T>C (p.Phe942Leu) c.495T>C n.215+730T>C n.3126T>C c.4144T>C (p.Phe1382Leu) c.3772T>C (p.Phe1258Leu) c.4133+730T>C (n.4133+730T>C) c.4135T>C (p.Phe1379Leu) c.3436T>C (p.Phe1146Leu) c.4183T>C (p.Phe1395Leu)	dbSNP
16	g.3739669A>T	CA394564887	CREBBP	c.4189T>A (p.Phe1397Ile) c.4075T>A (p.Phe1359Ile) c.2824T>A (p.Phe942Ile) c.495T>A n.215+730T>A n.3126T>A c.4144T>A (p.Phe1382Ile) c.3772T>A (p.Phe1258Ile) c.4133+730T>A (n.4133+730T>A) c.4135T>A (p.Phe1379Ile) c.3436T>A (p.Phe1146Ile) c.4183T>A (p.Phe1395Ile)	dbSNP
16	g.3739670C>A	CA493280121	CREBBP	c.4188G>T (p.Leu1396=) c.4074G>T (p.Leu1358=) c.2823G>T (p.Leu941=) c.494G>T n.215+729G>T n.3125G>T c.4143G>T (p.Leu1381=) c.3771G>T (p.Leu1257=) c.4133+729G>T (n.4133+729G>T) c.4134G>T (p.Leu1378=) c.3435G>T (p.Leu1145=) c.4182G>T (p.Leu1394=)	dbSNP gnomAD v4
16	g.3739670C=	CA2202939926	CREBBP	c.4188G= (p.Leu1396=) c.4074G= (p.Leu1358=) c.2823G= (p.Leu941=) c.494G= n.215+729G= n.3125G= c.4143G= (p.Leu1381=) c.3771G= (p.Leu1257=) c.4133+729G= (n.4133+729G=) c.4134G= (p.Leu1378=) c.3435G= (p.Leu1145=) c.4182G= (p.Leu1394=)
16	g.3739670C>G	CA493280122	CREBBP	c.4188G>C (p.Leu1396=) c.4074G>C (p.Leu1358=) c.2823G>C (p.Leu941=) c.494G>C n.215+729G>C n.3125G>C c.4143G>C (p.Leu1381=) c.3771G>C (p.Leu1257=) c.4133+729G>C (n.4133+729G>C) c.4134G>C (p.Leu1378=) c.3435G>C (p.Leu1145=) c.4182G>C (p.Leu1394=)	dbSNP
16	g.3739670C>T	CA493280123	CREBBP	c.4188G>A (p.Leu1396=) c.4074G>A (p.Leu1358=) c.2823G>A (p.Leu941=) c.494G>A n.215+729G>A n.3125G>A c.4143G>A (p.Leu1381=) c.3771G>A (p.Leu1257=) c.4133+729G>A (n.4133+729G>A) c.4134G>A (p.Leu1378=) c.3435G>A (p.Leu1145=) c.4182G>A (p.Leu1394=)
16	g.3739671A>C	CA394564889	CREBBP	c.4187T>G (p.Leu1396Arg) c.4073T>G (p.Leu1358Arg) c.2822T>G (p.Leu941Arg) c.493T>G n.215+728T>G n.3124T>G c.4142T>G (p.Leu1381Arg) c.3770T>G (p.Leu1257Arg) c.4133+728T>G (n.4133+728T>G) c.4133T>G (p.Leu1378Arg) c.3434T>G (p.Leu1145Arg) c.4181T>G (p.Leu1394Arg)
16	g.3739671A>G	CA394564890	CREBBP	c.4187T>C (p.Leu1396Pro) c.4073T>C (p.Leu1358Pro) c.2822T>C (p.Leu941Pro) c.493T>C n.215+728T>C n.3124T>C c.4142T>C (p.Leu1381Pro) c.3770T>C (p.Leu1257Pro) c.4133+728T>C (n.4133+728T>C) c.4133T>C (p.Leu1378Pro) c.3434T>C (p.Leu1145Pro) c.4181T>C (p.Leu1394Pro)
16	g.3739671A>T	CA394564888	CREBBP	c.4187T>A (p.Leu1396Gln) c.4073T>A (p.Leu1358Gln) c.2822T>A (p.Leu941Gln) c.493T>A n.215+728T>A n.3124T>A c.4142T>A (p.Leu1381Gln) c.3770T>A (p.Leu1257Gln) c.4133+728T>A (n.4133+728T>A) c.4133T>A (p.Leu1378Gln) c.3434T>A (p.Leu1145Gln) c.4181T>A (p.Leu1394Gln)	dbSNP
16	g.3739672G>A	CA493280124	CREBBP	c.4186C>T (p.Leu1396=) c.4072C>T (p.Leu1358=) c.2821C>T (p.Leu941=) c.492C>T n.215+727C>T n.3123C>T c.4141C>T (p.Leu1381=) c.3769C>T (p.Leu1257=) c.4133+727C>T (n.4133+727C>T) c.4132C>T (p.Leu1378=) c.3433C>T (p.Leu1145=) c.4180C>T (p.Leu1394=)	dbSNP gnomAD v3 gnomAD v4
16	g.3739672G>C	CA394564891	CREBBP	c.4186C>G (p.Leu1396Val) c.4072C>G (p.Leu1358Val) c.2821C>G (p.Leu941Val) c.492C>G n.215+727C>G n.3123C>G c.4141C>G (p.Leu1381Val) c.3769C>G (p.Leu1257Val) c.4133+727C>G (n.4133+727C>G) c.4132C>G (p.Leu1378Val) c.3433C>G (p.Leu1145Val) c.4180C>G (p.Leu1394Val)	dbSNP
16	g.3739672G=	CA2202939927	CREBBP	c.4186C= (p.Leu1396=) c.4072C= (p.Leu1358=) c.2821C= (p.Leu941=) c.492C= n.215+727C= n.3123C= c.4141C= (p.Leu1381=) c.3769C= (p.Leu1257=) c.4133+727C= (n.4133+727C=) c.4132C= (p.Leu1378=) c.3433C= (p.Leu1145=) c.4180C= (p.Leu1394=)
16	g.3739672G>T	CA394564892	CREBBP	c.4186C>A (p.Leu1396Met) c.4072C>A (p.Leu1358Met) c.2821C>A (p.Leu941Met) c.492C>A n.215+727C>A n.3123C>A c.4141C>A (p.Leu1381Met) c.3769C>A (p.Leu1257Met) c.4133+727C>A (n.4133+727C>A) c.4132C>A (p.Leu1378Met) c.3433C>A (p.Leu1145Met) c.4180C>A (p.Leu1394Met)
16	g.3739673A=	CA2202939929	CREBBP	c.4185T= (p.Ala1395=) c.4071T= (p.Ala1357=) c.2820T= (p.Ala940=) c.491T= n.215+726T= n.3122T= c.4140T= (p.Ala1380=) c.3768T= (p.Ala1256=) c.4133+726T= (n.4133+726T=) c.4131T= (p.Ala1377=) c.3432T= (p.Ala1144=) c.4179T= (p.Ala1393=)
16	g.3739673A>C	CA493280126	CREBBP	c.4185T>G (p.Ala1395=) c.4071T>G (p.Ala1357=) c.2820T>G (p.Ala940=) c.491T>G n.215+726T>G n.3122T>G c.4140T>G (p.Ala1380=) c.3768T>G (p.Ala1256=) c.4133+726T>G (n.4133+726T>G) c.4131T>G (p.Ala1377=) c.3432T>G (p.Ala1144=) c.4179T>G (p.Ala1393=)	gnomAD v4
16	g.3739673A>G	CA7869584	CREBBP	c.4185T>C (p.Ala1395=) c.4071T>C (p.Ala1357=) c.2820T>C (p.Ala940=) c.491T>C n.215+726T>C n.3122T>C c.4140T>C (p.Ala1380=) c.3768T>C (p.Ala1256=) c.4133+726T>C (n.4133+726T>C) c.4131T>C (p.Ala1377=) c.3432T>C (p.Ala1144=) c.4179T>C (p.Ala1393=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3739673A>T	CA493280125	CREBBP	c.4185T>A (p.Ala1395=) c.4071T>A (p.Ala1357=) c.2820T>A (p.Ala940=) c.491T>A n.215+726T>A n.3122T>A c.4140T>A (p.Ala1380=) c.3768T>A (p.Ala1256=) c.4133+726T>A (n.4133+726T>A) c.4131T>A (p.Ala1377=) c.3432T>A (p.Ala1144=) c.4179T>A (p.Ala1393=)
16	g.3739674G>A	CA394564893	CREBBP	c.4184C>T (p.Ala1395Val) c.4070C>T (p.Ala1357Val) c.2819C>T (p.Ala940Val) c.490C>T n.215+725C>T n.3121C>T c.4139C>T (p.Ala1380Val) c.3767C>T (p.Ala1256Val) c.4133+725C>T (n.4133+725C>T) c.4130C>T (p.Ala1377Val) c.3431C>T (p.Ala1144Val) c.4178C>T (p.Ala1393Val)	dbSNP
16	g.3739674G>C	CA394564894	CREBBP	c.4184C>G (p.Ala1395Gly) c.4070C>G (p.Ala1357Gly) c.2819C>G (p.Ala940Gly) c.490C>G n.215+725C>G n.3121C>G c.4139C>G (p.Ala1380Gly) c.3767C>G (p.Ala1256Gly) c.4133+725C>G (n.4133+725C>G) c.4130C>G (p.Ala1377Gly) c.3431C>G (p.Ala1144Gly) c.4178C>G (p.Ala1393Gly)	dbSNP
16	g.3739674G=	CA2202939933	CREBBP	c.4184C= (p.Ala1395=) c.4070C= (p.Ala1357=) c.2819C= (p.Ala940=) c.490C= n.215+725C= n.3121C= c.4139C= (p.Ala1380=) c.3767C= (p.Ala1256=) c.4133+725C= (n.4133+725C=) c.4130C= (p.Ala1377=) c.3431C= (p.Ala1144=) c.4178C= (p.Ala1393=)
16	g.3739674G>T	CA16620205	CREBBP	c.4184C>A (p.Ala1395Asp) c.4070C>A (p.Ala1357Asp) c.2819C>A (p.Ala940Asp) c.490C>A n.215+725C>A n.3121C>A c.4139C>A (p.Ala1380Asp) c.3767C>A (p.Ala1256Asp) c.4133+725C>A (n.4133+725C>A) c.4130C>A (p.Ala1377Asp) c.3431C>A (p.Ala1144Asp) c.4178C>A (p.Ala1393Asp)	ClinVar dbSNP
16	g.3739675C>A	CA394564897	CREBBP	c.4183G>T (p.Ala1395Ser) c.4069G>T (p.Ala1357Ser) c.2818G>T (p.Ala940Ser) c.489G>T n.215+724G>T n.3120G>T c.4138G>T (p.Ala1380Ser) c.3766G>T (p.Ala1256Ser) c.4133+724G>T (n.4133+724G>T) c.4129G>T (p.Ala1377Ser) c.3430G>T (p.Ala1144Ser) c.4177G>T (p.Ala1393Ser)
16	g.3739675C>G	CA394564895	CREBBP	c.4183G>C (p.Ala1395Pro) c.4069G>C (p.Ala1357Pro) c.2818G>C (p.Ala940Pro) c.489G>C n.215+724G>C n.3120G>C c.4138G>C (p.Ala1380Pro) c.3766G>C (p.Ala1256Pro) c.4133+724G>C (n.4133+724G>C) c.4129G>C (p.Ala1377Pro) c.3430G>C (p.Ala1144Pro) c.4177G>C (p.Ala1393Pro)
16	g.3739675C>T	CA394564896	CREBBP	c.4183G>A (p.Ala1395Thr) c.4069G>A (p.Ala1357Thr) c.2818G>A (p.Ala940Thr) c.489G>A n.215+724G>A n.3120G>A c.4138G>A (p.Ala1380Thr) c.3766G>A (p.Ala1256Thr) c.4133+724G>A (n.4133+724G>A) c.4129G>A (p.Ala1377Thr) c.3430G>A (p.Ala1144Thr) c.4177G>A (p.Ala1393Thr)
16	g.3739676T>A	CA394564898	CREBBP	c.4182A>T (p.Lys1394Asn) c.4068A>T (p.Lys1356Asn) c.2817A>T (p.Lys939Asn) c.488A>T n.215+723A>T n.3119A>T c.4137A>T (p.Lys1379Asn) c.3765A>T (p.Lys1255Asn) c.4133+723A>T (n.4133+723A>T) c.4128A>T (p.Lys1376Asn) c.3429A>T (p.Lys1143Asn) c.4176A>T (p.Lys1392Asn)	dbSNP
16	g.3739676T>C	CA493280127	CREBBP	c.4182A>G (p.Lys1394=) c.4068A>G (p.Lys1356=) c.2817A>G (p.Lys939=) c.488A>G n.215+723A>G n.3119A>G c.4137A>G (p.Lys1379=) c.3765A>G (p.Lys1255=) c.4133+723A>G (n.4133+723A>G) c.4128A>G (p.Lys1376=) c.3429A>G (p.Lys1143=) c.4176A>G (p.Lys1392=)
16	g.3739676T>G	CA394564899	CREBBP	c.4182A>C (p.Lys1394Asn) c.4068A>C (p.Lys1356Asn) c.2817A>C (p.Lys939Asn) c.488A>C n.215+723A>C n.3119A>C c.4137A>C (p.Lys1379Asn) c.3765A>C (p.Lys1255Asn) c.4133+723A>C (n.4133+723A>C) c.4128A>C (p.Lys1376Asn) c.3429A>C (p.Lys1143Asn) c.4176A>C (p.Lys1392Asn)
16	g.3739677T>A	CA394564900	CREBBP	c.4181A>T (p.Lys1394Ile) c.4067A>T (p.Lys1356Ile) c.2816A>T (p.Lys939Ile) c.487A>T n.215+722A>T n.3118A>T c.4136A>T (p.Lys1379Ile) c.3764A>T (p.Lys1255Ile) c.4133+722A>T (n.4133+722A>T) c.4127A>T (p.Lys1376Ile) c.3428A>T (p.Lys1143Ile) c.4175A>T (p.Lys1392Ile)	dbSNP
16	g.3739677T>C	CA394564901	CREBBP	c.4181A>G (p.Lys1394Arg) c.4067A>G (p.Lys1356Arg) c.2816A>G (p.Lys939Arg) c.487A>G n.215+722A>G n.3118A>G c.4136A>G (p.Lys1379Arg) c.3764A>G (p.Lys1255Arg) c.4133+722A>G (n.4133+722A>G) c.4127A>G (p.Lys1376Arg) c.3428A>G (p.Lys1143Arg) c.4175A>G (p.Lys1392Arg)
16	g.3739677T>G	CA394564902	CREBBP	c.4181A>C (p.Lys1394Thr) c.4067A>C (p.Lys1356Thr) c.2816A>C (p.Lys939Thr) c.487A>C n.215+722A>C n.3118A>C c.4136A>C (p.Lys1379Thr) c.3764A>C (p.Lys1255Thr) c.4133+722A>C (n.4133+722A>C) c.4127A>C (p.Lys1376Thr) c.3428A>C (p.Lys1143Thr) c.4175A>C (p.Lys1392Thr)
16	g.3739678T>A	CA394564903	CREBBP	c.4180A>T (p.Lys1394Ter) c.4066A>T (p.Lys1356Ter) c.2815A>T (p.Lys939Ter) c.486A>T n.215+721A>T n.3117A>T c.4135A>T (p.Lys1379Ter) c.3763A>T (p.Lys1255Ter) c.4133+721A>T (n.4133+721A>T) c.4126A>T (p.Lys1376Ter) c.3427A>T (p.Lys1143Ter) c.4174A>T (p.Lys1392Ter)
16	g.3739678T>C	CA394564905	CREBBP	c.4180A>G (p.Lys1394Glu) c.4066A>G (p.Lys1356Glu) c.2815A>G (p.Lys939Glu) c.486A>G n.215+721A>G n.3117A>G c.4135A>G (p.Lys1379Glu) c.3763A>G (p.Lys1255Glu) c.4133+721A>G (n.4133+721A>G) c.4126A>G (p.Lys1376Glu) c.3427A>G (p.Lys1143Glu) c.4174A>G (p.Lys1392Glu)	gnomAD v4
16	g.3739678T>G	CA394564904	CREBBP	c.4180A>C (p.Lys1394Gln) c.4066A>C (p.Lys1356Gln) c.2815A>C (p.Lys939Gln) c.486A>C n.215+721A>C n.3117A>C c.4135A>C (p.Lys1379Gln) c.3763A>C (p.Lys1255Gln) c.4133+721A>C (n.4133+721A>C) c.4126A>C (p.Lys1376Gln) c.3427A>C (p.Lys1143Gln) c.4174A>C (p.Lys1392Gln)
16	g.3739679G>A	CA493280128	CREBBP	c.4179C>T (p.Thr1393=) c.4065C>T (p.Thr1355=) c.2814C>T (p.Thr938=) c.485C>T n.215+720C>T n.3116C>T c.4134C>T (p.Thr1378=) c.3762C>T (p.Thr1254=) c.4133+720C>T (n.4133+720C>T) c.4125C>T (p.Thr1375=) c.3426C>T (p.Thr1142=) c.4173C>T (p.Thr1391=)	dbSNP
16	g.3739679G>C	CA493280129	CREBBP	c.4179C>G (p.Thr1393=) c.4065C>G (p.Thr1355=) c.2814C>G (p.Thr938=) c.485C>G n.215+720C>G n.3116C>G c.4134C>G (p.Thr1378=) c.3762C>G (p.Thr1254=) c.4133+720C>G (n.4133+720C>G) c.4125C>G (p.Thr1375=) c.3426C>G (p.Thr1142=) c.4173C>G (p.Thr1391=)	dbSNP COSMIC
16	g.3739679G=	CA2202939936	CREBBP	c.4179C= (p.Thr1393=) c.4065C= (p.Thr1355=) c.2814C= (p.Thr938=) c.485C= n.215+720C= n.3116C= c.4134C= (p.Thr1378=) c.3762C= (p.Thr1254=) c.4133+720C= (n.4133+720C=) c.4125C= (p.Thr1375=) c.3426C= (p.Thr1142=) c.4173C= (p.Thr1391=)
16	g.3739679G>T	CA493280130	CREBBP	c.4179C>A (p.Thr1393=) c.4065C>A (p.Thr1355=) c.2814C>A (p.Thr938=) c.485C>A n.215+720C>A n.3116C>A c.4134C>A (p.Thr1378=) c.3762C>A (p.Thr1254=) c.4133+720C>A (n.4133+720C>A) c.4125C>A (p.Thr1375=) c.3426C>A (p.Thr1142=) c.4173C>A (p.Thr1391=)	dbSNP
16	g.3739680G>A	CA394564906	CREBBP	c.4178C>T (p.Thr1393Ile) c.4064C>T (p.Thr1355Ile) c.2813C>T (p.Thr938Ile) c.484C>T n.215+719C>T n.3115C>T c.4133C>T (p.Thr1378Ile) c.3761C>T (p.Thr1254Ile) c.4133+719C>T (n.4133+719C>T) c.4124C>T (p.Thr1375Ile) c.3425C>T (p.Thr1142Ile) c.4172C>T (p.Thr1391Ile)	dbSNP gnomAD v4
16	g.3739680G>C	CA394564907	CREBBP	c.4178C>G (p.Thr1393Ser) c.4064C>G (p.Thr1355Ser) c.2813C>G (p.Thr938Ser) c.484C>G n.215+719C>G n.3115C>G c.4133C>G (p.Thr1378Ser) c.3761C>G (p.Thr1254Ser) c.4133+719C>G (n.4133+719C>G) c.4124C>G (p.Thr1375Ser) c.3425C>G (p.Thr1142Ser) c.4172C>G (p.Thr1391Ser)	dbSNP
16	g.3739680G>T	CA394564908	CREBBP	c.4178C>A (p.Thr1393Asn) c.4064C>A (p.Thr1355Asn) c.2813C>A (p.Thr938Asn) c.484C>A n.215+719C>A n.3115C>A c.4133C>A (p.Thr1378Asn) c.3761C>A (p.Thr1254Asn) c.4133+719C>A (n.4133+719C>A) c.4124C>A (p.Thr1375Asn) c.3425C>A (p.Thr1142Asn) c.4172C>A (p.Thr1391Asn)
16	g.3739681T>A	CA394564909	CREBBP	c.4177A>T (p.Thr1393Ser) c.4063A>T (p.Thr1355Ser) c.2812A>T (p.Thr938Ser) c.483A>T n.215+718A>T n.3114A>T c.4132A>T (p.Thr1378Ser) c.3760A>T (p.Thr1254Ser) c.4133+718A>T (n.4133+718A>T) c.4123A>T (p.Thr1375Ser) c.3424A>T (p.Thr1142Ser) c.4171A>T (p.Thr1391Ser)	dbSNP
16	g.3739681T>C	CA276982532	CREBBP	c.4177A>G (p.Thr1393Ala) c.4063A>G (p.Thr1355Ala) c.2812A>G (p.Thr938Ala) c.483A>G n.215+718A>G n.3114A>G c.4132A>G (p.Thr1378Ala) c.3760A>G (p.Thr1254Ala) c.4133+718A>G (n.4133+718A>G) c.4123A>G (p.Thr1375Ala) c.3424A>G (p.Thr1142Ala) c.4171A>G (p.Thr1391Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3739681T>G	CA394564910	CREBBP	c.4177A>C (p.Thr1393Pro) c.4063A>C (p.Thr1355Pro) c.2812A>C (p.Thr938Pro) c.483A>C n.215+718A>C n.3114A>C c.4132A>C (p.Thr1378Pro) c.3760A>C (p.Thr1254Pro) c.4133+718A>C (n.4133+718A>C) c.4123A>C (p.Thr1375Pro) c.3424A>C (p.Thr1142Pro) c.4171A>C (p.Thr1391Pro)
16	g.3739681T=	CA2202939939	CREBBP	c.4177A= (p.Thr1393=) c.4063A= (p.Thr1355=) c.2812A= (p.Thr938=) c.483A= n.215+718A= n.3114A= c.4132A= (p.Thr1378=) c.3760A= (p.Thr1254=) c.4133+718A= (n.4133+718A=) c.4123A= (p.Thr1375=) c.3424A= (p.Thr1142=) c.4171A= (p.Thr1391=)

Number of alleles fetched