Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.3740391_3740404del	CA2695222654	CREBBP	c.4129_4133+9del c.4015_4019+9del c.2764_2768+9del c.435_439+9del n.211_215+9del n.3066_3070+9del c.4084_4088+9del c.3712_3716+9del c.4075_4079+9del c.3376_3380+9del c.4123_4127+9del
16	g.3740402G>A	CA394565200	CREBBP	c.4130C>T (p.Ser1377Leu) c.4016C>T (p.Ser1339Leu) c.2765C>T (p.Ser922Leu) c.436C>T n.212C>T n.3067C>T c.4085C>T (p.Ser1362Leu) c.3713C>T (p.Ser1238Leu) c.4076C>T (p.Ser1359Leu) c.3377C>T (p.Ser1126Leu) c.4124C>T (p.Ser1375Leu)	dbSNP
16	g.3740402G>C	CA394565198	CREBBP	c.4130C>G (p.Ser1377Ter) c.4016C>G (p.Ser1339Ter) c.2765C>G (p.Ser922Ter) c.436C>G n.212C>G n.3067C>G c.4085C>G (p.Ser1362Ter) c.3713C>G (p.Ser1238Ter) c.4076C>G (p.Ser1359Ter) c.3377C>G (p.Ser1126Ter) c.4124C>G (p.Ser1375Ter)	dbSNP
16	g.3740402G>T	CA394565199	CREBBP	c.4130C>A (p.Ser1377Ter) c.4016C>A (p.Ser1339Ter) c.2765C>A (p.Ser922Ter) c.436C>A n.212C>A n.3067C>A c.4085C>A (p.Ser1362Ter) c.3713C>A (p.Ser1238Ter) c.4076C>A (p.Ser1359Ter) c.3377C>A (p.Ser1126Ter) c.4124C>A (p.Ser1375Ter)
16	g.3740403A>C	CA394565201	CREBBP	c.4129T>G (p.Ser1377Ala) c.4015T>G (p.Ser1339Ala) c.2764T>G (p.Ser922Ala) c.435T>G n.211T>G n.3066T>G c.4084T>G (p.Ser1362Ala) c.3712T>G (p.Ser1238Ala) c.4075T>G (p.Ser1359Ala) c.3376T>G (p.Ser1126Ala) c.4123T>G (p.Ser1375Ala)	dbSNP
16	g.3740403A>G	CA394565202	CREBBP	c.4129T>C (p.Ser1377Pro) c.4015T>C (p.Ser1339Pro) c.2764T>C (p.Ser922Pro) c.435T>C n.211T>C n.3066T>C c.4084T>C (p.Ser1362Pro) c.3712T>C (p.Ser1238Pro) c.4075T>C (p.Ser1359Pro) c.3376T>C (p.Ser1126Pro) c.4123T>C (p.Ser1375Pro)
16	g.3740403A>T	CA394565203	CREBBP	c.4129T>A (p.Ser1377Thr) c.4015T>A (p.Ser1339Thr) c.2764T>A (p.Ser922Thr) c.435T>A n.211T>A n.3066T>A c.4084T>A (p.Ser1362Thr) c.3712T>A (p.Ser1238Thr) c.4075T>A (p.Ser1359Thr) c.3376T>A (p.Ser1126Thr) c.4123T>A (p.Ser1375Thr)	dbSNP
16	g.3740404C>A	CA394565204	CREBBP	c.4128G>T (p.Lys1376Asn) c.4014G>T (p.Lys1338Asn) c.2763G>T (p.Lys921Asn) c.434G>T n.210G>T n.3065G>T c.4083G>T (p.Lys1361Asn) c.3711G>T (p.Lys1237Asn) c.4074G>T (p.Lys1358Asn) c.3375G>T (p.Lys1125Asn) c.4122G>T (p.Lys1374Asn)
16	g.3740404C>G	CA394565205	CREBBP	c.4128G>C (p.Lys1376Asn) c.4014G>C (p.Lys1338Asn) c.2763G>C (p.Lys921Asn) c.434G>C n.210G>C n.3065G>C c.4083G>C (p.Lys1361Asn) c.3711G>C (p.Lys1237Asn) c.4074G>C (p.Lys1358Asn) c.3375G>C (p.Lys1125Asn) c.4122G>C (p.Lys1374Asn)	dbSNP
16	g.3740404C>T	CA493280274	CREBBP	c.4128G>A (p.Lys1376=) c.4014G>A (p.Lys1338=) c.2763G>A (p.Lys921=) c.434G>A n.210G>A n.3065G>A c.4083G>A (p.Lys1361=) c.3711G>A (p.Lys1237=) c.4074G>A (p.Lys1358=) c.3375G>A (p.Lys1125=) c.4122G>A (p.Lys1374=)	dbSNP
16	g.3740405T>A	CA394565206	CREBBP	c.4127A>T (p.Lys1376Met) c.4013A>T (p.Lys1338Met) c.2762A>T (p.Lys921Met) c.433A>T n.209A>T n.3064A>T c.4082A>T (p.Lys1361Met) c.3710A>T (p.Lys1237Met) c.4073A>T (p.Lys1358Met) c.3374A>T (p.Lys1125Met) c.4121A>T (p.Lys1374Met)	dbSNP
16	g.3740405T>C	CA394565207	CREBBP	c.4127A>G (p.Lys1376Arg) c.4013A>G (p.Lys1338Arg) c.2762A>G (p.Lys921Arg) c.433A>G n.209A>G n.3064A>G c.4082A>G (p.Lys1361Arg) c.3710A>G (p.Lys1237Arg) c.4073A>G (p.Lys1358Arg) c.3374A>G (p.Lys1125Arg) c.4121A>G (p.Lys1374Arg)	dbSNP
16	g.3740405T>G	CA394565208	CREBBP	c.4127A>C (p.Lys1376Thr) c.4013A>C (p.Lys1338Thr) c.2762A>C (p.Lys921Thr) c.433A>C n.209A>C n.3064A>C c.4082A>C (p.Lys1361Thr) c.3710A>C (p.Lys1237Thr) c.4073A>C (p.Lys1358Thr) c.3374A>C (p.Lys1125Thr) c.4121A>C (p.Lys1374Thr)
16	g.3740406T>A	CA394565209	CREBBP	c.4126A>T (p.Lys1376Ter) c.4012A>T (p.Lys1338Ter) c.2761A>T (p.Lys921Ter) c.432A>T n.208A>T n.3063A>T c.4081A>T (p.Lys1361Ter) c.3709A>T (p.Lys1237Ter) c.4072A>T (p.Lys1358Ter) c.3373A>T (p.Lys1125Ter) c.4120A>T (p.Lys1374Ter)
16	g.3740406T>C	CA394565210	CREBBP	c.4126A>G (p.Lys1376Glu) c.4012A>G (p.Lys1338Glu) c.2761A>G (p.Lys921Glu) c.432A>G n.208A>G n.3063A>G c.4081A>G (p.Lys1361Glu) c.3709A>G (p.Lys1237Glu) c.4072A>G (p.Lys1358Glu) c.3373A>G (p.Lys1125Glu) c.4120A>G (p.Lys1374Glu)	dbSNP
16	g.3740406T>G	CA394565211	CREBBP	c.4126A>C (p.Lys1376Gln) c.4012A>C (p.Lys1338Gln) c.2761A>C (p.Lys921Gln) c.432A>C n.208A>C n.3063A>C c.4081A>C (p.Lys1361Gln) c.3709A>C (p.Lys1237Gln) c.4072A>C (p.Lys1358Gln) c.3373A>C (p.Lys1125Gln) c.4120A>C (p.Lys1374Gln)
16	g.3740407C>A	CA394565214	CREBBP	c.4125G>T (p.Met1375Ile) c.4011G>T (p.Met1337Ile) c.2760G>T (p.Met920Ile) c.431G>T n.207G>T n.3062G>T c.4080G>T (p.Met1360Ile) c.3708G>T (p.Met1236Ile) c.4071G>T (p.Met1357Ile) c.3372G>T (p.Met1124Ile) c.4119G>T (p.Met1373Ile)
16	g.3740407C>G	CA394565213	CREBBP	c.4125G>C (p.Met1375Ile) c.4011G>C (p.Met1337Ile) c.2760G>C (p.Met920Ile) c.431G>C n.207G>C n.3062G>C c.4080G>C (p.Met1360Ile) c.3708G>C (p.Met1236Ile) c.4071G>C (p.Met1357Ile) c.3372G>C (p.Met1124Ile) c.4119G>C (p.Met1373Ile)	dbSNP
16	g.3740407C>T	CA394565212	CREBBP	c.4125G>A (p.Met1375Ile) c.4011G>A (p.Met1337Ile) c.2760G>A (p.Met920Ile) c.431G>A n.207G>A n.3062G>A c.4080G>A (p.Met1360Ile) c.3708G>A (p.Met1236Ile) c.4071G>A (p.Met1357Ile) c.3372G>A (p.Met1124Ile) c.4119G>A (p.Met1373Ile)	dbSNP
16	g.3740408A>C	CA394565215	CREBBP	c.4124T>G (p.Met1375Arg) c.4010T>G (p.Met1337Arg) c.2759T>G (p.Met920Arg) c.430T>G n.206T>G n.3061T>G c.4079T>G (p.Met1360Arg) c.3707T>G (p.Met1236Arg) c.4070T>G (p.Met1357Arg) c.3371T>G (p.Met1124Arg) c.4118T>G (p.Met1373Arg)	dbSNP
16	g.3740408A>G	CA394565216	CREBBP	c.4124T>C (p.Met1375Thr) c.4010T>C (p.Met1337Thr) c.2759T>C (p.Met920Thr) c.430T>C n.206T>C n.3061T>C c.4079T>C (p.Met1360Thr) c.3707T>C (p.Met1236Thr) c.4070T>C (p.Met1357Thr) c.3371T>C (p.Met1124Thr) c.4118T>C (p.Met1373Thr)
16	g.3740408A>T	CA394565217	CREBBP	c.4124T>A (p.Met1375Lys) c.4010T>A (p.Met1337Lys) c.2759T>A (p.Met920Lys) c.430T>A n.206T>A n.3061T>A c.4079T>A (p.Met1360Lys) c.3707T>A (p.Met1236Lys) c.4070T>A (p.Met1357Lys) c.3371T>A (p.Met1124Lys) c.4118T>A (p.Met1373Lys)	dbSNP
16	g.3740409T>A	CA394565218	CREBBP	c.4123A>T (p.Met1375Leu) c.4009A>T (p.Met1337Leu) c.2758A>T (p.Met920Leu) c.429A>T n.205A>T n.3060A>T c.4078A>T (p.Met1360Leu) c.3706A>T (p.Met1236Leu) c.4069A>T (p.Met1357Leu) c.3370A>T (p.Met1124Leu) c.4117A>T (p.Met1373Leu)
16	g.3740409T>C	CA394565219	CREBBP	c.4123A>G (p.Met1375Val) c.4009A>G (p.Met1337Val) c.2758A>G (p.Met920Val) c.429A>G n.205A>G n.3060A>G c.4078A>G (p.Met1360Val) c.3706A>G (p.Met1236Val) c.4069A>G (p.Met1357Val) c.3370A>G (p.Met1124Val) c.4117A>G (p.Met1373Val)	dbSNP
16	g.3740409T>G	CA394565220	CREBBP	c.4123A>C (p.Met1375Leu) c.4009A>C (p.Met1337Leu) c.2758A>C (p.Met920Leu) c.429A>C n.205A>C n.3060A>C c.4078A>C (p.Met1360Leu) c.3706A>C (p.Met1236Leu) c.4069A>C (p.Met1357Leu) c.3370A>C (p.Met1124Leu) c.4117A>C (p.Met1373Leu)	dbSNP
16	g.3740410C>A	CA493280281	CREBBP	c.4122G>T (p.Gly1374=) c.4008G>T (p.Gly1336=) c.2757G>T (p.Gly919=) c.428G>T n.204G>T n.3059G>T c.4077G>T (p.Gly1359=) c.3705G>T (p.Gly1235=) c.4068G>T (p.Gly1356=) c.3369G>T (p.Gly1123=) c.4116G>T (p.Gly1372=)
16	g.3740410C=	CA2202940794	CREBBP	c.4122G= (p.Gly1374=) c.4008G= (p.Gly1336=) c.2757G= (p.Gly919=) c.428G= n.204G= n.3059G= c.4077G= (p.Gly1359=) c.3705G= (p.Gly1235=) c.4068G= (p.Gly1356=) c.3369G= (p.Gly1123=) c.4116G= (p.Gly1372=)
16	g.3740410C>G	CA493280283	CREBBP	c.4122G>C (p.Gly1374=) c.4008G>C (p.Gly1336=) c.2757G>C (p.Gly919=) c.428G>C n.204G>C n.3059G>C c.4077G>C (p.Gly1359=) c.3705G>C (p.Gly1235=) c.4068G>C (p.Gly1356=) c.3369G>C (p.Gly1123=) c.4116G>C (p.Gly1372=)	dbSNP
16	g.3740410C>T	CA7869620	CREBBP	c.4122G>A (p.Gly1374=) c.4008G>A (p.Gly1336=) c.2757G>A (p.Gly919=) c.428G>A n.204G>A n.3059G>A c.4077G>A (p.Gly1359=) c.3705G>A (p.Gly1235=) c.4068G>A (p.Gly1356=) c.3369G>A (p.Gly1123=) c.4116G>A (p.Gly1372=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3740411C>A	CA394565221	CREBBP	c.4121G>T (p.Gly1374Val) c.4007G>T (p.Gly1336Val) c.2756G>T (p.Gly919Val) c.427G>T n.203G>T n.3058G>T c.4076G>T (p.Gly1359Val) c.3704G>T (p.Gly1235Val) c.4067G>T (p.Gly1356Val) c.3368G>T (p.Gly1123Val) c.4115G>T (p.Gly1372Val)	dbSNP
16	g.3740411C=	CA2202940796	CREBBP	c.4121G= (p.Gly1374=) c.4007G= (p.Gly1336=) c.2756G= (p.Gly919=) c.427G= n.203G= n.3058G= c.4076G= (p.Gly1359=) c.3704G= (p.Gly1235=) c.4067G= (p.Gly1356=) c.3368G= (p.Gly1123=) c.4115G= (p.Gly1372=)
16	g.3740411C>G	CA394565222	CREBBP	c.4121G>C (p.Gly1374Ala) c.4007G>C (p.Gly1336Ala) c.2756G>C (p.Gly919Ala) c.427G>C n.203G>C n.3058G>C c.4076G>C (p.Gly1359Ala) c.3704G>C (p.Gly1235Ala) c.4067G>C (p.Gly1356Ala) c.3368G>C (p.Gly1123Ala) c.4115G>C (p.Gly1372Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.3740411C>T	CA394565223	CREBBP	c.4121G>A (p.Gly1374Glu) c.4007G>A (p.Gly1336Glu) c.2756G>A (p.Gly919Glu) c.427G>A n.203G>A n.3058G>A c.4076G>A (p.Gly1359Glu) c.3704G>A (p.Gly1235Glu) c.4067G>A (p.Gly1356Glu) c.3368G>A (p.Gly1123Glu) c.4115G>A (p.Gly1372Glu)	dbSNP
16	g.3740412C>A	CA394565224	CREBBP	c.4120G>T (p.Gly1374Trp) c.4006G>T (p.Gly1336Trp) c.2755G>T (p.Gly919Trp) c.426G>T n.202G>T n.3057G>T c.4075G>T (p.Gly1359Trp) c.3703G>T (p.Gly1235Trp) c.4066G>T (p.Gly1356Trp) c.3367G>T (p.Gly1123Trp) c.4114G>T (p.Gly1372Trp)	dbSNP
16	g.3740412C=	CA2202940798	CREBBP	c.4120G= (p.Gly1374=) c.4006G= (p.Gly1336=) c.2755G= (p.Gly919=) c.426G= n.202G= n.3057G= c.4075G= (p.Gly1359=) c.3703G= (p.Gly1235=) c.4066G= (p.Gly1356=) c.3367G= (p.Gly1123=) c.4114G= (p.Gly1372=)
16	g.3740412C>G	CA394565225	CREBBP	c.4120G>C (p.Gly1374Arg) c.4006G>C (p.Gly1336Arg) c.2755G>C (p.Gly919Arg) c.426G>C n.202G>C n.3057G>C c.4075G>C (p.Gly1359Arg) c.3703G>C (p.Gly1235Arg) c.4066G>C (p.Gly1356Arg) c.3367G>C (p.Gly1123Arg) c.4114G>C (p.Gly1372Arg)	dbSNP
16	g.3740412C>T	CA7869621	CREBBP	c.4120G>A (p.Gly1374Arg) c.4006G>A (p.Gly1336Arg) c.2755G>A (p.Gly919Arg) c.426G>A n.202G>A n.3057G>A c.4075G>A (p.Gly1359Arg) c.3703G>A (p.Gly1235Arg) c.4066G>A (p.Gly1356Arg) c.3367G>A (p.Gly1123Arg) c.4114G>A (p.Gly1372Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.3740413G>A	CA7869622	CREBBP	c.4119C>T (p.Pro1373=) c.4005C>T (p.Pro1335=) c.2754C>T (p.Pro918=) c.425C>T n.201C>T n.3056C>T c.4074C>T (p.Pro1358=) c.3702C>T (p.Pro1234=) c.4065C>T (p.Pro1355=) c.3366C>T (p.Pro1122=) c.4113C>T (p.Pro1371=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740413G>C	CA493280288	CREBBP	c.4119C>G (p.Pro1373=) c.4005C>G (p.Pro1335=) c.2754C>G (p.Pro918=) c.425C>G n.201C>G n.3056C>G c.4074C>G (p.Pro1358=) c.3702C>G (p.Pro1234=) c.4065C>G (p.Pro1355=) c.3366C>G (p.Pro1122=) c.4113C>G (p.Pro1371=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.3740413G=	CA2202940802	CREBBP	c.4119C= (p.Pro1373=) c.4005C= (p.Pro1335=) c.2754C= (p.Pro918=) c.425C= n.201C= n.3056C= c.4074C= (p.Pro1358=) c.3702C= (p.Pro1234=) c.4065C= (p.Pro1355=) c.3366C= (p.Pro1122=) c.4113C= (p.Pro1371=)
16	g.3740413G>T	CA493280289	CREBBP	c.4119C>A (p.Pro1373=) c.4005C>A (p.Pro1335=) c.2754C>A (p.Pro918=) c.425C>A n.201C>A n.3056C>A c.4074C>A (p.Pro1358=) c.3702C>A (p.Pro1234=) c.4065C>A (p.Pro1355=) c.3366C>A (p.Pro1122=) c.4113C>A (p.Pro1371=)
16	g.3740414G>A	CA276983188	CREBBP	c.4118C>T (p.Pro1373Leu) c.4004C>T (p.Pro1335Leu) c.2753C>T (p.Pro918Leu) c.424C>T n.200C>T n.3055C>T c.4073C>T (p.Pro1358Leu) c.3701C>T (p.Pro1234Leu) c.4064C>T (p.Pro1355Leu) c.3365C>T (p.Pro1122Leu) c.4112C>T (p.Pro1371Leu)	dbSNP COSMIC
16	g.3740414G>C	CA394565227	CREBBP	c.4118C>G (p.Pro1373Arg) c.4004C>G (p.Pro1335Arg) c.2753C>G (p.Pro918Arg) c.424C>G n.200C>G n.3055C>G c.4073C>G (p.Pro1358Arg) c.3701C>G (p.Pro1234Arg) c.4064C>G (p.Pro1355Arg) c.3365C>G (p.Pro1122Arg) c.4112C>G (p.Pro1371Arg)	dbSNP
16	g.3740414G=	CA2202940807	CREBBP	c.4118C= (p.Pro1373=) c.4004C= (p.Pro1335=) c.2753C= (p.Pro918=) c.424C= n.200C= n.3055C= c.4073C= (p.Pro1358=) c.3701C= (p.Pro1234=) c.4064C= (p.Pro1355=) c.3365C= (p.Pro1122=) c.4112C= (p.Pro1371=)
16	g.3740414G>T	CA394565226	CREBBP	c.4118C>A (p.Pro1373His) c.4004C>A (p.Pro1335His) c.2753C>A (p.Pro918His) c.424C>A n.200C>A n.3055C>A c.4073C>A (p.Pro1358His) c.3701C>A (p.Pro1234His) c.4064C>A (p.Pro1355His) c.3365C>A (p.Pro1122His) c.4112C>A (p.Pro1371His)	dbSNP
16	g.[3740414G>T;3740420A>T]	CA913203355	CREBBP	c.[4112T>A;4118C>A] (p.[Val1371Asp;Pro1373His]) c.[3998T>A;4004C>A] (p.[Val1333Asp;Pro1335His]) c.[2747T>A;2753C>A] (p.[Val916Asp;Pro918His]) c.[418T>A;424C>A] n.[194T>A;200C>A] n.[3049T>A;3055C>A] c.[4067T>A;4073C>A] (p.[Val1356Asp;Pro1358His]) c.[3695T>A;3701C>A] (p.[Val1232Asp;Pro1234His]) c.[4058T>A;4064C>A] (p.[Val1353Asp;Pro1355His]) c.[3359T>A;3365C>A] (p.[Val1120Asp;Pro1122His]) c.[4106T>A;4112C>A] (p.[Val1369Asp;Pro1371His])
16	g.3740415G>A	CA394565228	CREBBP	c.4117C>T (p.Pro1373Ser) c.4003C>T (p.Pro1335Ser) c.2752C>T (p.Pro918Ser) c.423C>T n.199C>T n.3054C>T c.4072C>T (p.Pro1358Ser) c.3700C>T (p.Pro1234Ser) c.4063C>T (p.Pro1355Ser) c.3364C>T (p.Pro1122Ser) c.4111C>T (p.Pro1371Ser)	dbSNP
16	g.3740415G>C	CA394565229	CREBBP	c.4117C>G (p.Pro1373Ala) c.4003C>G (p.Pro1335Ala) c.2752C>G (p.Pro918Ala) c.423C>G n.199C>G n.3054C>G c.4072C>G (p.Pro1358Ala) c.3700C>G (p.Pro1234Ala) c.4063C>G (p.Pro1355Ala) c.3364C>G (p.Pro1122Ala) c.4111C>G (p.Pro1371Ala)	dbSNP
16	g.3740415G>T	CA394565230	CREBBP	c.4117C>A (p.Pro1373Thr) c.4003C>A (p.Pro1335Thr) c.2752C>A (p.Pro918Thr) c.423C>A n.199C>A n.3054C>A c.4072C>A (p.Pro1358Thr) c.3700C>A (p.Pro1234Thr) c.4063C>A (p.Pro1355Thr) c.3364C>A (p.Pro1122Thr) c.4111C>A (p.Pro1371Thr)
16	g.3740416C>A	CA394565231	CREBBP	c.4116G>T (p.Lys1372Asn) c.4002G>T (p.Lys1334Asn) c.2751G>T (p.Lys917Asn) c.422G>T n.198G>T n.3053G>T c.4071G>T (p.Lys1357Asn) c.3699G>T (p.Lys1233Asn) c.4062G>T (p.Lys1354Asn) c.3363G>T (p.Lys1121Asn) c.4110G>T (p.Lys1370Asn)	dbSNP
16	g.3740416C>G	CA394565232	CREBBP	c.4116G>C (p.Lys1372Asn) c.4002G>C (p.Lys1334Asn) c.2751G>C (p.Lys917Asn) c.422G>C n.198G>C n.3053G>C c.4071G>C (p.Lys1357Asn) c.3699G>C (p.Lys1233Asn) c.4062G>C (p.Lys1354Asn) c.3363G>C (p.Lys1121Asn) c.4110G>C (p.Lys1370Asn)
16	g.3740416C>T	CA493280294	CREBBP	c.4116G>A (p.Lys1372=) c.4002G>A (p.Lys1334=) c.2751G>A (p.Lys917=) c.422G>A n.198G>A n.3053G>A c.4071G>A (p.Lys1357=) c.3699G>A (p.Lys1233=) c.4062G>A (p.Lys1354=) c.3363G>A (p.Lys1121=) c.4110G>A (p.Lys1370=)	dbSNP gnomAD v4
16	g.3740417T>A	CA394565235	CREBBP	c.4115A>T (p.Lys1372Met) c.4001A>T (p.Lys1334Met) c.2750A>T (p.Lys917Met) c.421A>T n.197A>T n.3052A>T c.4070A>T (p.Lys1357Met) c.3698A>T (p.Lys1233Met) c.4061A>T (p.Lys1354Met) c.3362A>T (p.Lys1121Met) c.4109A>T (p.Lys1370Met)	dbSNP
16	g.3740417T>C	CA394565234	CREBBP	c.4115A>G (p.Lys1372Arg) c.4001A>G (p.Lys1334Arg) c.2750A>G (p.Lys917Arg) c.421A>G n.197A>G n.3052A>G c.4070A>G (p.Lys1357Arg) c.3698A>G (p.Lys1233Arg) c.4061A>G (p.Lys1354Arg) c.3362A>G (p.Lys1121Arg) c.4109A>G (p.Lys1370Arg)	dbSNP
16	g.3740417T>G	CA394565233	CREBBP	c.4115A>C (p.Lys1372Thr) c.4001A>C (p.Lys1334Thr) c.2750A>C (p.Lys917Thr) c.421A>C n.197A>C n.3052A>C c.4070A>C (p.Lys1357Thr) c.3698A>C (p.Lys1233Thr) c.4061A>C (p.Lys1354Thr) c.3362A>C (p.Lys1121Thr) c.4109A>C (p.Lys1370Thr)	dbSNP
16	g.3740418T>A	CA394565236	CREBBP	c.4114A>T (p.Lys1372Ter) c.4000A>T (p.Lys1334Ter) c.2749A>T (p.Lys917Ter) c.420A>T n.196A>T n.3051A>T c.4069A>T (p.Lys1357Ter) c.3697A>T (p.Lys1233Ter) c.4060A>T (p.Lys1354Ter) c.3361A>T (p.Lys1121Ter) c.4108A>T (p.Lys1370Ter)
16	g.3740418T>C	CA394565237	CREBBP	c.4114A>G (p.Lys1372Glu) c.4000A>G (p.Lys1334Glu) c.2749A>G (p.Lys917Glu) c.420A>G n.196A>G n.3051A>G c.4069A>G (p.Lys1357Glu) c.3697A>G (p.Lys1233Glu) c.4060A>G (p.Lys1354Glu) c.3361A>G (p.Lys1121Glu) c.4108A>G (p.Lys1370Glu)	dbSNP
16	g.3740418T>G	CA394565238	CREBBP	c.4114A>C (p.Lys1372Gln) c.4000A>C (p.Lys1334Gln) c.2749A>C (p.Lys917Gln) c.420A>C n.196A>C n.3051A>C c.4069A>C (p.Lys1357Gln) c.3697A>C (p.Lys1233Gln) c.4060A>C (p.Lys1354Gln) c.3361A>C (p.Lys1121Gln) c.4108A>C (p.Lys1370Gln)	dbSNP
16	g.3740419G>A	CA493280298	CREBBP	c.4113C>T (p.Val1371=) c.3999C>T (p.Val1333=) c.2748C>T (p.Val916=) c.419C>T n.195C>T n.3050C>T c.4068C>T (p.Val1356=) c.3696C>T (p.Val1232=) c.4059C>T (p.Val1353=) c.3360C>T (p.Val1120=) c.4107C>T (p.Val1369=)	dbSNP
16	g.3740419G>C	CA493280299	CREBBP	c.4113C>G (p.Val1371=) c.3999C>G (p.Val1333=) c.2748C>G (p.Val916=) c.419C>G n.195C>G n.3050C>G c.4068C>G (p.Val1356=) c.3696C>G (p.Val1232=) c.4059C>G (p.Val1353=) c.3360C>G (p.Val1120=) c.4107C>G (p.Val1369=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740419G=	CA2202940811	CREBBP	c.4113C= (p.Val1371=) c.3999C= (p.Val1333=) c.2748C= (p.Val916=) c.419C= n.195C= n.3050C= c.4068C= (p.Val1356=) c.3696C= (p.Val1232=) c.4059C= (p.Val1353=) c.3360C= (p.Val1120=) c.4107C= (p.Val1369=)
16	g.3740419G>T	CA493280300	CREBBP	c.4113C>A (p.Val1371=) c.3999C>A (p.Val1333=) c.2748C>A (p.Val916=) c.419C>A n.195C>A n.3050C>A c.4068C>A (p.Val1356=) c.3696C>A (p.Val1232=) c.4059C>A (p.Val1353=) c.3360C>A (p.Val1120=) c.4107C>A (p.Val1369=)
16	g.3740420A=	CA2202940813	CREBBP	c.4112T= (p.Val1371=) c.3998T= (p.Val1333=) c.2747T= (p.Val916=) c.418T= n.194T= n.3049T= c.4067T= (p.Val1356=) c.3695T= (p.Val1232=) c.4058T= (p.Val1353=) c.3359T= (p.Val1120=) c.4106T= (p.Val1369=)
16	g.3740420A>C	CA394565239	CREBBP	c.4112T>G (p.Val1371Gly) c.3998T>G (p.Val1333Gly) c.2747T>G (p.Val916Gly) c.418T>G n.194T>G n.3049T>G c.4067T>G (p.Val1356Gly) c.3695T>G (p.Val1232Gly) c.4058T>G (p.Val1353Gly) c.3359T>G (p.Val1120Gly) c.4106T>G (p.Val1369Gly)	dbSNP
16	g.3740420A>G	CA394565240	CREBBP	c.4112T>C (p.Val1371Ala) c.3998T>C (p.Val1333Ala) c.2747T>C (p.Val916Ala) c.418T>C n.194T>C n.3049T>C c.4067T>C (p.Val1356Ala) c.3695T>C (p.Val1232Ala) c.4058T>C (p.Val1353Ala) c.3359T>C (p.Val1120Ala) c.4106T>C (p.Val1369Ala)	dbSNP
16	g.3740420A>T	CA394565241	CREBBP	c.4112T>A (p.Val1371Asp) c.3998T>A (p.Val1333Asp) c.2747T>A (p.Val916Asp) c.418T>A n.194T>A n.3049T>A c.4067T>A (p.Val1356Asp) c.3695T>A (p.Val1232Asp) c.4058T>A (p.Val1353Asp) c.3359T>A (p.Val1120Asp) c.4106T>A (p.Val1369Asp)	dbSNP COSMIC
16	g.3740421C>A	CA394565242	CREBBP	c.4111G>T (p.Val1371Phe) c.3997G>T (p.Val1333Phe) c.2746G>T (p.Val916Phe) c.417G>T n.193G>T n.3048G>T c.4066G>T (p.Val1356Phe) c.3694G>T (p.Val1232Phe) c.4057G>T (p.Val1353Phe) c.3358G>T (p.Val1120Phe) c.4105G>T (p.Val1369Phe)
16	g.3740421C>G	CA394565244	CREBBP	c.4111G>C (p.Val1371Leu) c.3997G>C (p.Val1333Leu) c.2746G>C (p.Val916Leu) c.417G>C n.193G>C n.3048G>C c.4066G>C (p.Val1356Leu) c.3694G>C (p.Val1232Leu) c.4057G>C (p.Val1353Leu) c.3358G>C (p.Val1120Leu) c.4105G>C (p.Val1369Leu)	dbSNP
16	g.3740421C>T	CA394565243	CREBBP	c.4111G>A (p.Val1371Ile) c.3997G>A (p.Val1333Ile) c.2746G>A (p.Val916Ile) c.417G>A n.193G>A n.3048G>A c.4066G>A (p.Val1356Ile) c.3694G>A (p.Val1232Ile) c.4057G>A (p.Val1353Ile) c.3358G>A (p.Val1120Ile) c.4105G>A (p.Val1369Ile)	dbSNP
16	g.3740422C>A	CA394565245	CREBBP	c.4110G>T (p.Glu1370Asp) c.3996G>T (p.Glu1332Asp) c.2745G>T (p.Glu915Asp) c.416G>T n.192G>T n.3047G>T c.4065G>T (p.Glu1355Asp) c.3693G>T (p.Glu1231Asp) c.4056G>T (p.Glu1352Asp) c.3357G>T (p.Glu1119Asp) c.4104G>T (p.Glu1368Asp)	dbSNP
16	g.3740422C=	CA2202940816	CREBBP	c.4110G= (p.Glu1370=) c.3996G= (p.Glu1332=) c.2745G= (p.Glu915=) c.416G= n.192G= n.3047G= c.4065G= (p.Glu1355=) c.3693G= (p.Glu1231=) c.4056G= (p.Glu1352=) c.3357G= (p.Glu1119=) c.4104G= (p.Glu1368=)
16	g.3740422C>G	CA394565246	CREBBP	c.4110G>C (p.Glu1370Asp) c.3996G>C (p.Glu1332Asp) c.2745G>C (p.Glu915Asp) c.416G>C n.192G>C n.3047G>C c.4065G>C (p.Glu1355Asp) c.3693G>C (p.Glu1231Asp) c.4056G>C (p.Glu1352Asp) c.3357G>C (p.Glu1119Asp) c.4104G>C (p.Glu1368Asp)	gnomAD v4
16	g.3740422C>T	CA493280304	CREBBP	c.4110G>A (p.Glu1370=) c.3996G>A (p.Glu1332=) c.2745G>A (p.Glu915=) c.416G>A n.192G>A n.3047G>A c.4065G>A (p.Glu1355=) c.3693G>A (p.Glu1231=) c.4056G>A (p.Glu1352=) c.3357G>A (p.Glu1119=) c.4104G>A (p.Glu1368=)	ClinVar dbSNP
16	g.3740423T>A	CA394565247	CREBBP	c.4109A>T (p.Glu1370Val) c.3995A>T (p.Glu1332Val) c.2744A>T (p.Glu915Val) c.415A>T n.191A>T n.3046A>T c.4064A>T (p.Glu1355Val) c.3692A>T (p.Glu1231Val) c.4055A>T (p.Glu1352Val) c.3356A>T (p.Glu1119Val) c.4103A>T (p.Glu1368Val)
16	g.3740423T>C	CA394565248	CREBBP	c.4109A>G (p.Glu1370Gly) c.3995A>G (p.Glu1332Gly) c.2744A>G (p.Glu915Gly) c.415A>G n.191A>G n.3046A>G c.4064A>G (p.Glu1355Gly) c.3692A>G (p.Glu1231Gly) c.4055A>G (p.Glu1352Gly) c.3356A>G (p.Glu1119Gly) c.4103A>G (p.Glu1368Gly)
16	g.3740423T>G	CA394565249	CREBBP	c.4109A>C (p.Glu1370Ala) c.3995A>C (p.Glu1332Ala) c.2744A>C (p.Glu915Ala) c.415A>C n.191A>C n.3046A>C c.4064A>C (p.Glu1355Ala) c.3692A>C (p.Glu1231Ala) c.4055A>C (p.Glu1352Ala) c.3356A>C (p.Glu1119Ala) c.4103A>C (p.Glu1368Ala)
16	g.3740424C>A	CA394565250	CREBBP	c.4108G>T (p.Glu1370Ter) c.3994G>T (p.Glu1332Ter) c.2743G>T (p.Glu915Ter) c.414G>T n.190G>T n.3045G>T c.4063G>T (p.Glu1355Ter) c.3691G>T (p.Glu1231Ter) c.4054G>T (p.Glu1352Ter) c.3355G>T (p.Glu1119Ter) c.4102G>T (p.Glu1368Ter)
16	g.3740424C>G	CA394565251	CREBBP	c.4108G>C (p.Glu1370Gln) c.3994G>C (p.Glu1332Gln) c.2743G>C (p.Glu915Gln) c.414G>C n.190G>C n.3045G>C c.4063G>C (p.Glu1355Gln) c.3691G>C (p.Glu1231Gln) c.4054G>C (p.Glu1352Gln) c.3355G>C (p.Glu1119Gln) c.4102G>C (p.Glu1368Gln)
16	g.3740424C>T	CA394565252	CREBBP	c.4108G>A (p.Glu1370Lys) c.3994G>A (p.Glu1332Lys) c.2743G>A (p.Glu915Lys) c.414G>A n.190G>A n.3045G>A c.4063G>A (p.Glu1355Lys) c.3691G>A (p.Glu1231Lys) c.4054G>A (p.Glu1352Lys) c.3355G>A (p.Glu1119Lys) c.4102G>A (p.Glu1368Lys)
16	g.3740425C>A	CA493280309	CREBBP	c.4107G>T (p.Val1369=) c.3993G>T (p.Val1331=) c.2742G>T (p.Val914=) c.413G>T n.189G>T n.3044G>T c.4062G>T (p.Val1354=) c.3690G>T (p.Val1230=) c.4053G>T (p.Val1351=) c.3354G>T (p.Val1118=) c.4101G>T (p.Val1367=)	dbSNP
16	g.3740425C>G	CA493280310	CREBBP	c.4107G>C (p.Val1369=) c.3993G>C (p.Val1331=) c.2742G>C (p.Val914=) c.413G>C n.189G>C n.3044G>C c.4062G>C (p.Val1354=) c.3690G>C (p.Val1230=) c.4053G>C (p.Val1351=) c.3354G>C (p.Val1118=) c.4101G>C (p.Val1367=)	dbSNP
16	g.3740425C>T	CA493280312	CREBBP	c.4107G>A (p.Val1369=) c.3993G>A (p.Val1331=) c.2742G>A (p.Val914=) c.413G>A n.189G>A n.3044G>A c.4062G>A (p.Val1354=) c.3690G>A (p.Val1230=) c.4053G>A (p.Val1351=) c.3354G>A (p.Val1118=) c.4101G>A (p.Val1367=)	dbSNP gnomAD v4
16	g.3740426A>C	CA394565253	CREBBP	c.4106T>G (p.Val1369Gly) c.3992T>G (p.Val1331Gly) c.2741T>G (p.Val914Gly) c.412T>G n.188T>G n.3043T>G c.4061T>G (p.Val1354Gly) c.3689T>G (p.Val1230Gly) c.4052T>G (p.Val1351Gly) c.3353T>G (p.Val1118Gly) c.4100T>G (p.Val1367Gly)	dbSNP
16	g.3740426A>G	CA394565254	CREBBP	c.4106T>C (p.Val1369Ala) c.3992T>C (p.Val1331Ala) c.2741T>C (p.Val914Ala) c.412T>C n.188T>C n.3043T>C c.4061T>C (p.Val1354Ala) c.3689T>C (p.Val1230Ala) c.4052T>C (p.Val1351Ala) c.3353T>C (p.Val1118Ala) c.4100T>C (p.Val1367Ala)	dbSNP gnomAD v4
16	g.3740426A>T	CA394565255	CREBBP	c.4106T>A (p.Val1369Glu) c.3992T>A (p.Val1331Glu) c.2741T>A (p.Val914Glu) c.412T>A n.188T>A n.3043T>A c.4061T>A (p.Val1354Glu) c.3689T>A (p.Val1230Glu) c.4052T>A (p.Val1351Glu) c.3353T>A (p.Val1118Glu) c.4100T>A (p.Val1367Glu)	dbSNP
16	g.3740427C>A	CA394565257	CREBBP	c.4105G>T (p.Val1369Leu) c.3991G>T (p.Val1331Leu) c.2740G>T (p.Val914Leu) c.411G>T n.187G>T n.3042G>T c.4060G>T (p.Val1354Leu) c.3688G>T (p.Val1230Leu) c.4051G>T (p.Val1351Leu) c.3352G>T (p.Val1118Leu) c.4099G>T (p.Val1367Leu)
16	g.3740427C=	CA2202940818	CREBBP	c.4105G= (p.Val1369=) c.3991G= (p.Val1331=) c.2740G= (p.Val914=) c.411G= n.187G= n.3042G= c.4060G= (p.Val1354=) c.3688G= (p.Val1230=) c.4051G= (p.Val1351=) c.3352G= (p.Val1118=) c.4099G= (p.Val1367=)
16	g.3740427C>G	CA394565258	CREBBP	c.4105G>C (p.Val1369Leu) c.3991G>C (p.Val1331Leu) c.2740G>C (p.Val914Leu) c.411G>C n.187G>C n.3042G>C c.4060G>C (p.Val1354Leu) c.3688G>C (p.Val1230Leu) c.4051G>C (p.Val1351Leu) c.3352G>C (p.Val1118Leu) c.4099G>C (p.Val1367Leu)
16	g.3740427C>T	CA394565256	CREBBP	c.4105G>A (p.Val1369Met) c.3991G>A (p.Val1331Met) c.2740G>A (p.Val914Met) c.411G>A n.187G>A n.3042G>A c.4060G>A (p.Val1354Met) c.3688G>A (p.Val1230Met) c.4051G>A (p.Val1351Met) c.3352G>A (p.Val1118Met) c.4099G>A (p.Val1367Met)	dbSNP
16	g.3740428C>A	CA493280317	CREBBP	c.4104G>T (p.Thr1368=) c.3990G>T (p.Thr1330=) c.2739G>T (p.Thr913=) c.410G>T n.186G>T n.3041G>T c.4059G>T (p.Thr1353=) c.3687G>T (p.Thr1229=) c.4050G>T (p.Thr1350=) c.3351G>T (p.Thr1117=) c.4098G>T (p.Thr1366=)
16	g.3740428C=	CA2202940823	CREBBP	c.4104G= (p.Thr1368=) c.3990G= (p.Thr1330=) c.2739G= (p.Thr913=) c.410G= n.186G= n.3041G= c.4059G= (p.Thr1353=) c.3687G= (p.Thr1229=) c.4050G= (p.Thr1350=) c.3351G= (p.Thr1117=) c.4098G= (p.Thr1366=)
16	g.3740428C>G	CA493280318	CREBBP	c.4104G>C (p.Thr1368=) c.3990G>C (p.Thr1330=) c.2739G>C (p.Thr913=) c.410G>C n.186G>C n.3041G>C c.4059G>C (p.Thr1353=) c.3687G>C (p.Thr1229=) c.4050G>C (p.Thr1350=) c.3351G>C (p.Thr1117=) c.4098G>C (p.Thr1366=)	dbSNP
16	g.3740428C>T	CA276983190	CREBBP	c.4104G>A (p.Thr1368=) c.3990G>A (p.Thr1330=) c.2739G>A (p.Thr913=) c.410G>A n.186G>A n.3041G>A c.4059G>A (p.Thr1353=) c.3687G>A (p.Thr1229=) c.4050G>A (p.Thr1350=) c.3351G>A (p.Thr1117=) c.4098G>A (p.Thr1366=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740429G>A	CA7869623	CREBBP	c.4103C>T (p.Thr1368Met) c.3989C>T (p.Thr1330Met) c.2738C>T (p.Thr913Met) c.409C>T n.185C>T n.3040C>T c.4058C>T (p.Thr1353Met) c.3686C>T (p.Thr1229Met) c.4049C>T (p.Thr1350Met) c.3350C>T (p.Thr1117Met) c.4097C>T (p.Thr1366Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740429G>C	CA394565259	CREBBP	c.4103C>G (p.Thr1368Arg) c.3989C>G (p.Thr1330Arg) c.2738C>G (p.Thr913Arg) c.409C>G n.185C>G n.3040C>G c.4058C>G (p.Thr1353Arg) c.3686C>G (p.Thr1229Arg) c.4049C>G (p.Thr1350Arg) c.3350C>G (p.Thr1117Arg) c.4097C>G (p.Thr1366Arg)	dbSNP
16	g.3740429G=	CA2202940824	CREBBP	c.4103C= (p.Thr1368=) c.3989C= (p.Thr1330=) c.2738C= (p.Thr913=) c.409C= n.185C= n.3040C= c.4058C= (p.Thr1353=) c.3686C= (p.Thr1229=) c.4049C= (p.Thr1350=) c.3350C= (p.Thr1117=) c.4097C= (p.Thr1366=)
16	g.3740429G>T	CA394565260	CREBBP	c.4103C>A (p.Thr1368Lys) c.3989C>A (p.Thr1330Lys) c.2738C>A (p.Thr913Lys) c.409C>A n.185C>A n.3040C>A c.4058C>A (p.Thr1353Lys) c.3686C>A (p.Thr1229Lys) c.4049C>A (p.Thr1350Lys) c.3350C>A (p.Thr1117Lys) c.4097C>A (p.Thr1366Lys)
16	g.3740430T>A	CA394565261	CREBBP	c.4102A>T (p.Thr1368Ser) c.3988A>T (p.Thr1330Ser) c.2737A>T (p.Thr913Ser) c.408A>T n.184A>T n.3039A>T c.4057A>T (p.Thr1353Ser) c.3685A>T (p.Thr1229Ser) c.4048A>T (p.Thr1350Ser) c.3349A>T (p.Thr1117Ser) c.4096A>T (p.Thr1366Ser)	dbSNP
16	g.3740430T>C	CA394565263	CREBBP	c.4102A>G (p.Thr1368Ala) c.3988A>G (p.Thr1330Ala) c.2737A>G (p.Thr913Ala) c.408A>G n.184A>G n.3039A>G c.4057A>G (p.Thr1353Ala) c.3685A>G (p.Thr1229Ala) c.4048A>G (p.Thr1350Ala) c.3349A>G (p.Thr1117Ala) c.4096A>G (p.Thr1366Ala)	dbSNP
16	g.3740430T>G	CA394565262	CREBBP	c.4102A>C (p.Thr1368Pro) c.3988A>C (p.Thr1330Pro) c.2737A>C (p.Thr913Pro) c.408A>C n.184A>C n.3039A>C c.4057A>C (p.Thr1353Pro) c.3685A>C (p.Thr1229Pro) c.4048A>C (p.Thr1350Pro) c.3349A>C (p.Thr1117Pro) c.4096A>C (p.Thr1366Pro)	dbSNP
16	g.3740431C>A	CA394565264	CREBBP	c.4101G>T (p.Lys1367Asn) c.3987G>T (p.Lys1329Asn) c.2736G>T (p.Lys912Asn) c.407G>T n.183G>T n.3038G>T c.4056G>T (p.Lys1352Asn) c.3684G>T (p.Lys1228Asn) c.4047G>T (p.Lys1349Asn) c.3348G>T (p.Lys1116Asn) c.4095G>T (p.Lys1365Asn)
16	g.3740431C>G	CA394565265	CREBBP	c.4101G>C (p.Lys1367Asn) c.3987G>C (p.Lys1329Asn) c.2736G>C (p.Lys912Asn) c.407G>C n.183G>C n.3038G>C c.4056G>C (p.Lys1352Asn) c.3684G>C (p.Lys1228Asn) c.4047G>C (p.Lys1349Asn) c.3348G>C (p.Lys1116Asn) c.4095G>C (p.Lys1365Asn)	dbSNP COSMIC
16	g.3740431C>T	CA493280323	CREBBP	c.4101G>A (p.Lys1367=) c.3987G>A (p.Lys1329=) c.2736G>A (p.Lys912=) c.407G>A n.183G>A n.3038G>A c.4056G>A (p.Lys1352=) c.3684G>A (p.Lys1228=) c.4047G>A (p.Lys1349=) c.3348G>A (p.Lys1116=) c.4095G>A (p.Lys1365=)	dbSNP
16	g.3740432T>A	CA394565266	CREBBP	c.4100A>T (p.Lys1367Met) c.3986A>T (p.Lys1329Met) c.2735A>T (p.Lys912Met) c.406A>T n.182A>T n.3037A>T c.4055A>T (p.Lys1352Met) c.3683A>T (p.Lys1228Met) c.4046A>T (p.Lys1349Met) c.3347A>T (p.Lys1116Met) c.4094A>T (p.Lys1365Met)	dbSNP
16	g.3740432T>C	CA394565267	CREBBP	c.4100A>G (p.Lys1367Arg) c.3986A>G (p.Lys1329Arg) c.2735A>G (p.Lys912Arg) c.406A>G n.182A>G n.3037A>G c.4055A>G (p.Lys1352Arg) c.3683A>G (p.Lys1228Arg) c.4046A>G (p.Lys1349Arg) c.3347A>G (p.Lys1116Arg) c.4094A>G (p.Lys1365Arg)	dbSNP
16	g.3740432T>G	CA394565268	CREBBP	c.4100A>C (p.Lys1367Thr) c.3986A>C (p.Lys1329Thr) c.2735A>C (p.Lys912Thr) c.406A>C n.182A>C n.3037A>C c.4055A>C (p.Lys1352Thr) c.3683A>C (p.Lys1228Thr) c.4046A>C (p.Lys1349Thr) c.3347A>C (p.Lys1116Thr) c.4094A>C (p.Lys1365Thr)
16	g.3740433T>A	CA394565269	CREBBP	c.4099A>T (p.Lys1367Ter) c.3985A>T (p.Lys1329Ter) c.2734A>T (p.Lys912Ter) c.405A>T n.181A>T n.3036A>T c.4054A>T (p.Lys1352Ter) c.3682A>T (p.Lys1228Ter) c.4045A>T (p.Lys1349Ter) c.3346A>T (p.Lys1116Ter) c.4093A>T (p.Lys1365Ter)
16	g.3740433T>C	CA394565270	CREBBP	c.4099A>G (p.Lys1367Glu) c.3985A>G (p.Lys1329Glu) c.2734A>G (p.Lys912Glu) c.405A>G n.181A>G n.3036A>G c.4054A>G (p.Lys1352Glu) c.3682A>G (p.Lys1228Glu) c.4045A>G (p.Lys1349Glu) c.3346A>G (p.Lys1116Glu) c.4093A>G (p.Lys1365Glu)
16	g.3740433T>G	CA394565271	CREBBP	c.4099A>C (p.Lys1367Gln) c.3985A>C (p.Lys1329Gln) c.2734A>C (p.Lys912Gln) c.405A>C n.181A>C n.3036A>C c.4054A>C (p.Lys1352Gln) c.3682A>C (p.Lys1228Gln) c.4045A>C (p.Lys1349Gln) c.3346A>C (p.Lys1116Gln) c.4093A>C (p.Lys1365Gln)
16	g.3740434G>A	CA493280327	CREBBP	c.4098C>T (p.Asp1366=) c.3984C>T (p.Asp1328=) c.2733C>T (p.Asp911=) c.404C>T n.180C>T n.3035C>T c.4053C>T (p.Asp1351=) c.3681C>T (p.Asp1227=) c.4044C>T (p.Asp1348=) c.3345C>T (p.Asp1115=) c.4092C>T (p.Asp1364=)	dbSNP
16	g.3740434G>C	CA394565272	CREBBP	c.4098C>G (p.Asp1366Glu) c.3984C>G (p.Asp1328Glu) c.2733C>G (p.Asp911Glu) c.404C>G n.180C>G n.3035C>G c.4053C>G (p.Asp1351Glu) c.3681C>G (p.Asp1227Glu) c.4044C>G (p.Asp1348Glu) c.3345C>G (p.Asp1115Glu) c.4092C>G (p.Asp1364Glu)	dbSNP gnomAD v4
16	g.3740434G>T	CA394565273	CREBBP	c.4098C>A (p.Asp1366Glu) c.3984C>A (p.Asp1328Glu) c.2733C>A (p.Asp911Glu) c.404C>A n.180C>A n.3035C>A c.4053C>A (p.Asp1351Glu) c.3681C>A (p.Asp1227Glu) c.4044C>A (p.Asp1348Glu) c.3345C>A (p.Asp1115Glu) c.4092C>A (p.Asp1364Glu)
16	g.3740435T>A	CA394565274	CREBBP	c.4097A>T (p.Asp1366Val) c.3983A>T (p.Asp1328Val) c.2732A>T (p.Asp911Val) c.403A>T n.179A>T n.3034A>T c.4052A>T (p.Asp1351Val) c.3680A>T (p.Asp1227Val) c.4043A>T (p.Asp1348Val) c.3344A>T (p.Asp1115Val) c.4091A>T (p.Asp1364Val)	dbSNP
16	g.3740435T>C	CA394565275	CREBBP	c.4097A>G (p.Asp1366Gly) c.3983A>G (p.Asp1328Gly) c.2732A>G (p.Asp911Gly) c.403A>G n.179A>G n.3034A>G c.4052A>G (p.Asp1351Gly) c.3680A>G (p.Asp1227Gly) c.4043A>G (p.Asp1348Gly) c.3344A>G (p.Asp1115Gly) c.4091A>G (p.Asp1364Gly)	dbSNP gnomAD v4
16	g.3740435T>G	CA394565276	CREBBP	c.4097A>C (p.Asp1366Ala) c.3983A>C (p.Asp1328Ala) c.2732A>C (p.Asp911Ala) c.403A>C n.179A>C n.3034A>C c.4052A>C (p.Asp1351Ala) c.3680A>C (p.Asp1227Ala) c.4043A>C (p.Asp1348Ala) c.3344A>C (p.Asp1115Ala) c.4091A>C (p.Asp1364Ala)	dbSNP
16	g.3740436C>A	CA394565279	CREBBP	c.4096G>T (p.Asp1366Tyr) c.3982G>T (p.Asp1328Tyr) c.2731G>T (p.Asp911Tyr) c.402G>T n.178G>T n.3033G>T c.4051G>T (p.Asp1351Tyr) c.3679G>T (p.Asp1227Tyr) c.4042G>T (p.Asp1348Tyr) c.3343G>T (p.Asp1115Tyr) c.4090G>T (p.Asp1364Tyr)
16	g.3740436C>G	CA394565278	CREBBP	c.4096G>C (p.Asp1366His) c.3982G>C (p.Asp1328His) c.2731G>C (p.Asp911His) c.402G>C n.178G>C n.3033G>C c.4051G>C (p.Asp1351His) c.3679G>C (p.Asp1227His) c.4042G>C (p.Asp1348His) c.3343G>C (p.Asp1115His) c.4090G>C (p.Asp1364His)	dbSNP
16	g.3740436C>T	CA394565277	CREBBP	c.4096G>A (p.Asp1366Asn) c.3982G>A (p.Asp1328Asn) c.2731G>A (p.Asp911Asn) c.402G>A n.178G>A n.3033G>A c.4051G>A (p.Asp1351Asn) c.3679G>A (p.Asp1227Asn) c.4042G>A (p.Asp1348Asn) c.3343G>A (p.Asp1115Asn) c.4090G>A (p.Asp1364Asn)	dbSNP
16	g.3740437T>A	CA493280331	CREBBP	c.4095A>T (p.Ser1365=) c.3981A>T (p.Ser1327=) c.2730A>T (p.Ser910=) c.401A>T n.177A>T n.3032A>T c.4050A>T (p.Ser1350=) c.3678A>T (p.Ser1226=) c.4041A>T (p.Ser1347=) c.3342A>T (p.Ser1114=) c.4089A>T (p.Ser1363=)
16	g.3740437T>C	CA493280329	CREBBP	c.4095A>G (p.Ser1365=) c.3981A>G (p.Ser1327=) c.2730A>G (p.Ser910=) c.401A>G n.177A>G n.3032A>G c.4050A>G (p.Ser1350=) c.3678A>G (p.Ser1226=) c.4041A>G (p.Ser1347=) c.3342A>G (p.Ser1114=) c.4089A>G (p.Ser1363=)
16	g.3740437T>G	CA493280330	CREBBP	c.4095A>C (p.Ser1365=) c.3981A>C (p.Ser1327=) c.2730A>C (p.Ser910=) c.401A>C n.177A>C n.3032A>C c.4050A>C (p.Ser1350=) c.3678A>C (p.Ser1226=) c.4041A>C (p.Ser1347=) c.3342A>C (p.Ser1114=) c.4089A>C (p.Ser1363=)	dbSNP
16	g.3740438G>A	CA394565280	CREBBP	c.4094C>T (p.Ser1365Leu) c.3980C>T (p.Ser1327Leu) c.2729C>T (p.Ser910Leu) c.400C>T n.176C>T n.3031C>T c.4049C>T (p.Ser1350Leu) c.3677C>T (p.Ser1226Leu) c.4040C>T (p.Ser1347Leu) c.3341C>T (p.Ser1114Leu) c.4088C>T (p.Ser1363Leu)	dbSNP gnomAD v4
16	g.3740438G>C	CA394565281	CREBBP	c.4094C>G (p.Ser1365Ter) c.3980C>G (p.Ser1327Ter) c.2729C>G (p.Ser910Ter) c.400C>G n.176C>G n.3031C>G c.4049C>G (p.Ser1350Ter) c.3677C>G (p.Ser1226Ter) c.4040C>G (p.Ser1347Ter) c.3341C>G (p.Ser1114Ter) c.4088C>G (p.Ser1363Ter)	dbSNP COSMIC
16	g.3740438G>T	CA394565282	CREBBP	c.4094C>A (p.Ser1365Ter) c.3980C>A (p.Ser1327Ter) c.2729C>A (p.Ser910Ter) c.400C>A n.176C>A n.3031C>A c.4049C>A (p.Ser1350Ter) c.3677C>A (p.Ser1226Ter) c.4040C>A (p.Ser1347Ter) c.3341C>A (p.Ser1114Ter) c.4088C>A (p.Ser1363Ter)
16	g.3740439A>C	CA394565283	CREBBP	c.4093T>G (p.Ser1365Ala) c.3979T>G (p.Ser1327Ala) c.2728T>G (p.Ser910Ala) c.399T>G n.175T>G n.3030T>G c.4048T>G (p.Ser1350Ala) c.3676T>G (p.Ser1226Ala) c.4039T>G (p.Ser1347Ala) c.3340T>G (p.Ser1114Ala) c.4087T>G (p.Ser1363Ala)
16	g.3740439A>G	CA394565284	CREBBP	c.4093T>C (p.Ser1365Pro) c.3979T>C (p.Ser1327Pro) c.2728T>C (p.Ser910Pro) c.399T>C n.175T>C n.3030T>C c.4048T>C (p.Ser1350Pro) c.3676T>C (p.Ser1226Pro) c.4039T>C (p.Ser1347Pro) c.3340T>C (p.Ser1114Pro) c.4087T>C (p.Ser1363Pro)	dbSNP
16	g.3740439A>T	CA394565285	CREBBP	c.4093T>A (p.Ser1365Thr) c.3979T>A (p.Ser1327Thr) c.2728T>A (p.Ser910Thr) c.399T>A n.175T>A n.3030T>A c.4048T>A (p.Ser1350Thr) c.3676T>A (p.Ser1226Thr) c.4039T>A (p.Ser1347Thr) c.3340T>A (p.Ser1114Thr) c.4087T>A (p.Ser1363Thr)	dbSNP
16	g.3740440G>A	CA493280333	CREBBP	c.4092C>T (p.Ser1364=) c.3978C>T (p.Ser1326=) c.2727C>T (p.Ser909=) c.398C>T n.174C>T n.3029C>T c.4047C>T (p.Ser1349=) c.3675C>T (p.Ser1225=) c.4038C>T (p.Ser1346=) c.3339C>T (p.Ser1113=) c.4086C>T (p.Ser1362=)	dbSNP
16	g.3740440G>C	CA394565286	CREBBP	c.4092C>G (p.Ser1364Arg) c.3978C>G (p.Ser1326Arg) c.2727C>G (p.Ser909Arg) c.398C>G n.174C>G n.3029C>G c.4047C>G (p.Ser1349Arg) c.3675C>G (p.Ser1225Arg) c.4038C>G (p.Ser1346Arg) c.3339C>G (p.Ser1113Arg) c.4086C>G (p.Ser1362Arg)	dbSNP gnomAD v4
16	g.3740440G>T	CA394565287	CREBBP	c.4092C>A (p.Ser1364Arg) c.3978C>A (p.Ser1326Arg) c.2727C>A (p.Ser909Arg) c.398C>A n.174C>A n.3029C>A c.4047C>A (p.Ser1349Arg) c.3675C>A (p.Ser1225Arg) c.4038C>A (p.Ser1346Arg) c.3339C>A (p.Ser1113Arg) c.4086C>A (p.Ser1362Arg)
16	g.3740441C>A	CA394565288	CREBBP	c.4091G>T (p.Ser1364Ile) c.3977G>T (p.Ser1326Ile) c.2726G>T (p.Ser909Ile) c.397G>T n.173G>T n.3028G>T c.4046G>T (p.Ser1349Ile) c.3674G>T (p.Ser1225Ile) c.4037G>T (p.Ser1346Ile) c.3338G>T (p.Ser1113Ile) c.4085G>T (p.Ser1362Ile)	dbSNP
16	g.3740441C>G	CA394565289	CREBBP	c.4091G>C (p.Ser1364Thr) c.3977G>C (p.Ser1326Thr) c.2726G>C (p.Ser909Thr) c.397G>C n.173G>C n.3028G>C c.4046G>C (p.Ser1349Thr) c.3674G>C (p.Ser1225Thr) c.4037G>C (p.Ser1346Thr) c.3338G>C (p.Ser1113Thr) c.4085G>C (p.Ser1362Thr)	dbSNP
16	g.3740441C>T	CA394565290	CREBBP	c.4091G>A (p.Ser1364Asn) c.3977G>A (p.Ser1326Asn) c.2726G>A (p.Ser909Asn) c.397G>A n.173G>A n.3028G>A c.4046G>A (p.Ser1349Asn) c.3674G>A (p.Ser1225Asn) c.4037G>A (p.Ser1346Asn) c.3338G>A (p.Ser1113Asn) c.4085G>A (p.Ser1362Asn)	dbSNP
16	g.3740442T>A	CA394565291	CREBBP	c.4090A>T (p.Ser1364Cys) c.3976A>T (p.Ser1326Cys) c.2725A>T (p.Ser909Cys) c.396A>T n.172A>T n.3027A>T c.4045A>T (p.Ser1349Cys) c.3673A>T (p.Ser1225Cys) c.4036A>T (p.Ser1346Cys) c.3337A>T (p.Ser1113Cys) c.4084A>T (p.Ser1362Cys)
16	g.3740442T>C	CA394565292	CREBBP	c.4090A>G (p.Ser1364Gly) c.3976A>G (p.Ser1326Gly) c.2725A>G (p.Ser909Gly) c.396A>G n.172A>G n.3027A>G c.4045A>G (p.Ser1349Gly) c.3673A>G (p.Ser1225Gly) c.4036A>G (p.Ser1346Gly) c.3337A>G (p.Ser1113Gly) c.4084A>G (p.Ser1362Gly)	ClinVar gnomAD v4
16	g.3740442T>G	CA394565293	CREBBP	c.4090A>C (p.Ser1364Arg) c.3976A>C (p.Ser1326Arg) c.2725A>C (p.Ser909Arg) c.396A>C n.172A>C n.3027A>C c.4045A>C (p.Ser1349Arg) c.3673A>C (p.Ser1225Arg) c.4036A>C (p.Ser1346Arg) c.3337A>C (p.Ser1113Arg) c.4084A>C (p.Ser1362Arg)	gnomAD v4
16	g.3740442_3740452del	CA2695222657	CREBBP	c.4080_4090del (p.Val1361LeufsTer23) c.3966_3976del (p.Val1323LeufsTer23) c.2715_2725del (p.Val906LeufsTer23) c.386_396del n.162_172del n.3017_3027del c.4035_4045del (p.Val1346LeufsTer23) c.3663_3673del (p.Val1222LeufsTer23) c.4080_4090del (p.Val1361LeufsTer27) c.4026_4036del (p.Val1343LeufsTer23) c.3327_3337del (p.Val1110LeufsTer23) c.4074_4084del (p.Val1359LeufsTer23)
16	g.3740443G>A	CA493280337	CREBBP	c.4089C>T (p.Ala1363=) c.3975C>T (p.Ala1325=) c.2724C>T (p.Ala908=) n.553C>T c.395C>T n.171C>T n.3026C>T c.4044C>T (p.Ala1348=) c.3672C>T (p.Ala1224=) c.4035C>T (p.Ala1345=) c.3336C>T (p.Ala1112=) c.4083C>T (p.Ala1361=)	dbSNP
16	g.3740443G>C	CA493280335	CREBBP	c.4089C>G (p.Ala1363=) c.3975C>G (p.Ala1325=) c.2724C>G (p.Ala908=) n.553C>G c.395C>G n.171C>G n.3026C>G c.4044C>G (p.Ala1348=) c.3672C>G (p.Ala1224=) c.4035C>G (p.Ala1345=) c.3336C>G (p.Ala1112=) c.4083C>G (p.Ala1361=)	dbSNP
16	g.3740443G=	CA2202940826	CREBBP	c.4089C= (p.Ala1363=) c.3975C= (p.Ala1325=) c.2724C= (p.Ala908=) n.553C= c.395C= n.171C= n.3026C= c.4044C= (p.Ala1348=) c.3672C= (p.Ala1224=) c.4035C= (p.Ala1345=) c.3336C= (p.Ala1112=) c.4083C= (p.Ala1361=)
16	g.3740443G>T	CA493280336	CREBBP	c.4089C>A (p.Ala1363=) c.3975C>A (p.Ala1325=) c.2724C>A (p.Ala908=) n.553C>A c.395C>A n.171C>A n.3026C>A c.4044C>A (p.Ala1348=) c.3672C>A (p.Ala1224=) c.4035C>A (p.Ala1345=) c.3336C>A (p.Ala1112=) c.4083C>A (p.Ala1361=)	dbSNP gnomAD v2 gnomAD v4
16	g.3740444G>A	CA394565296	CREBBP	c.4088C>T (p.Ala1363Val) c.3974C>T (p.Ala1325Val) c.2723C>T (p.Ala908Val) n.552C>T c.394C>T n.170C>T n.3025C>T c.4043C>T (p.Ala1348Val) c.3671C>T (p.Ala1224Val) c.4034C>T (p.Ala1345Val) c.3335C>T (p.Ala1112Val) c.4082C>T (p.Ala1361Val)
16	g.3740444G>C	CA394565295	CREBBP	c.4088C>G (p.Ala1363Gly) c.3974C>G (p.Ala1325Gly) c.2723C>G (p.Ala908Gly) n.552C>G c.394C>G n.170C>G n.3025C>G c.4043C>G (p.Ala1348Gly) c.3671C>G (p.Ala1224Gly) c.4034C>G (p.Ala1345Gly) c.3335C>G (p.Ala1112Gly) c.4082C>G (p.Ala1361Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.3740444G=	CA2202940828	CREBBP	c.4088C= (p.Ala1363=) c.3974C= (p.Ala1325=) c.2723C= (p.Ala908=) n.552C= c.394C= n.170C= n.3025C= c.4043C= (p.Ala1348=) c.3671C= (p.Ala1224=) c.4034C= (p.Ala1345=) c.3335C= (p.Ala1112=) c.4082C= (p.Ala1361=)
16	g.3740444G>T	CA394565294	CREBBP	c.4088C>A (p.Ala1363Asp) c.3974C>A (p.Ala1325Asp) c.2723C>A (p.Ala908Asp) n.552C>A c.394C>A n.170C>A n.3025C>A c.4043C>A (p.Ala1348Asp) c.3671C>A (p.Ala1224Asp) c.4034C>A (p.Ala1345Asp) c.3335C>A (p.Ala1112Asp) c.4082C>A (p.Ala1361Asp)
16	g.3740445C>A	CA394565297	CREBBP	c.4087G>T (p.Ala1363Ser) c.3973G>T (p.Ala1325Ser) c.2722G>T (p.Ala908Ser) n.551G>T c.393G>T n.169G>T n.3024G>T c.4042G>T (p.Ala1348Ser) c.3670G>T (p.Ala1224Ser) c.4033G>T (p.Ala1345Ser) c.3334G>T (p.Ala1112Ser) c.4081G>T (p.Ala1361Ser)	gnomAD v4
16	g.3740445C>G	CA394565298	CREBBP	c.4087G>C (p.Ala1363Pro) c.3973G>C (p.Ala1325Pro) c.2722G>C (p.Ala908Pro) n.551G>C c.393G>C n.169G>C n.3024G>C c.4042G>C (p.Ala1348Pro) c.3670G>C (p.Ala1224Pro) c.4033G>C (p.Ala1345Pro) c.3334G>C (p.Ala1112Pro) c.4081G>C (p.Ala1361Pro)	dbSNP
16	g.3740445C>T	CA394565299	CREBBP	c.4087G>A (p.Ala1363Thr) c.3973G>A (p.Ala1325Thr) c.2722G>A (p.Ala908Thr) n.551G>A c.393G>A n.169G>A n.3024G>A c.4042G>A (p.Ala1348Thr) c.3670G>A (p.Ala1224Thr) c.4033G>A (p.Ala1345Thr) c.3334G>A (p.Ala1112Thr) c.4081G>A (p.Ala1361Thr)	dbSNP gnomAD v4
16	g.3740446C>A	CA493280341	CREBBP	c.4086G>T (p.Val1362=) c.3972G>T (p.Val1324=) c.2721G>T (p.Val907=) n.550G>T c.392G>T n.168G>T n.3023G>T c.4041G>T (p.Val1347=) c.3669G>T (p.Val1223=) c.4032G>T (p.Val1344=) c.3333G>T (p.Val1111=) c.4080G>T (p.Val1360=)	dbSNP
16	g.3740446C>G	CA493280342	CREBBP	c.4086G>C (p.Val1362=) c.3972G>C (p.Val1324=) c.2721G>C (p.Val907=) n.550G>C c.392G>C n.168G>C n.3023G>C c.4041G>C (p.Val1347=) c.3669G>C (p.Val1223=) c.4032G>C (p.Val1344=) c.3333G>C (p.Val1111=) c.4080G>C (p.Val1360=)	dbSNP
16	g.3740446C>T	CA493280344	CREBBP	c.4086G>A (p.Val1362=) c.3972G>A (p.Val1324=) c.2721G>A (p.Val907=) n.550G>A c.392G>A n.168G>A n.3023G>A c.4041G>A (p.Val1347=) c.3669G>A (p.Val1223=) c.4032G>A (p.Val1344=) c.3333G>A (p.Val1111=) c.4080G>A (p.Val1360=)	dbSNP gnomAD v4
16	g.3740447A>C	CA394565300	CREBBP	c.4085T>G (p.Val1362Gly) c.3971T>G (p.Val1324Gly) c.2720T>G (p.Val907Gly) n.549T>G c.391T>G n.167T>G n.3022T>G c.4040T>G (p.Val1347Gly) c.3668T>G (p.Val1223Gly) c.4031T>G (p.Val1344Gly) c.3332T>G (p.Val1111Gly) c.4079T>G (p.Val1360Gly)
16	g.3740447A>G	CA394565301	CREBBP	c.4085T>C (p.Val1362Ala) c.3971T>C (p.Val1324Ala) c.2720T>C (p.Val907Ala) n.549T>C c.391T>C n.167T>C n.3022T>C c.4040T>C (p.Val1347Ala) c.3668T>C (p.Val1223Ala) c.4031T>C (p.Val1344Ala) c.3332T>C (p.Val1111Ala) c.4079T>C (p.Val1360Ala)
16	g.3740447A>T	CA394565302	CREBBP	c.4085T>A (p.Val1362Glu) c.3971T>A (p.Val1324Glu) c.2720T>A (p.Val907Glu) n.549T>A c.391T>A n.167T>A n.3022T>A c.4040T>A (p.Val1347Glu) c.3668T>A (p.Val1223Glu) c.4031T>A (p.Val1344Glu) c.3332T>A (p.Val1111Glu) c.4079T>A (p.Val1360Glu)	dbSNP
16	g.3740448C>A	CA394565303	CREBBP	c.4084G>T (p.Val1362Leu) c.3970G>T (p.Val1324Leu) c.2719G>T (p.Val907Leu) n.548G>T c.390G>T n.166G>T n.3021G>T c.4039G>T (p.Val1347Leu) c.3667G>T (p.Val1223Leu) c.4030G>T (p.Val1344Leu) c.3331G>T (p.Val1111Leu) c.4078G>T (p.Val1360Leu)	gnomAD v4
16	g.3740448C=	CA2202940830	CREBBP	c.4084G= (p.Val1362=) c.3970G= (p.Val1324=) c.2719G= (p.Val907=) n.548G= c.390G= n.166G= n.3021G= c.4039G= (p.Val1347=) c.3667G= (p.Val1223=) c.4030G= (p.Val1344=) c.3331G= (p.Val1111=) c.4078G= (p.Val1360=)
16	g.3740448C>G	CA394565304	CREBBP	c.4084G>C (p.Val1362Leu) c.3970G>C (p.Val1324Leu) c.2719G>C (p.Val907Leu) n.548G>C c.390G>C n.166G>C n.3021G>C c.4039G>C (p.Val1347Leu) c.3667G>C (p.Val1223Leu) c.4030G>C (p.Val1344Leu) c.3331G>C (p.Val1111Leu) c.4078G>C (p.Val1360Leu)	dbSNP
16	g.3740448C>T	CA394565305	CREBBP	c.4084G>A (p.Val1362Met) c.3970G>A (p.Val1324Met) c.2719G>A (p.Val907Met) n.548G>A c.390G>A n.166G>A n.3021G>A c.4039G>A (p.Val1347Met) c.3667G>A (p.Val1223Met) c.4030G>A (p.Val1344Met) c.3331G>A (p.Val1111Met) c.4078G>A (p.Val1360Met)	dbSNP gnomAD v3 gnomAD v4
16	g.3740449C>A	CA493280348	CREBBP	c.4083G>T (p.Val1361=) c.3969G>T (p.Val1323=) c.2718G>T (p.Val906=) n.547G>T c.389G>T n.165G>T n.3020G>T c.4038G>T (p.Val1346=) c.3666G>T (p.Val1222=) c.4029G>T (p.Val1343=) c.3330G>T (p.Val1110=) c.4077G>T (p.Val1359=)
16	g.3740449C>G	CA493280349	CREBBP	c.4083G>C (p.Val1361=) c.3969G>C (p.Val1323=) c.2718G>C (p.Val906=) n.547G>C c.389G>C n.165G>C n.3020G>C c.4038G>C (p.Val1346=) c.3666G>C (p.Val1222=) c.4029G>C (p.Val1343=) c.3330G>C (p.Val1110=) c.4077G>C (p.Val1359=)	gnomAD v4
16	g.3740449C>T	CA493280350	CREBBP	c.4083G>A (p.Val1361=) c.3969G>A (p.Val1323=) c.2718G>A (p.Val906=) n.547G>A c.389G>A n.165G>A n.3020G>A c.4038G>A (p.Val1346=) c.3666G>A (p.Val1222=) c.4029G>A (p.Val1343=) c.3330G>A (p.Val1110=) c.4077G>A (p.Val1359=)	dbSNP
16	g.3740450A>C	CA394565306	CREBBP	c.4082T>G (p.Val1361Gly) c.3968T>G (p.Val1323Gly) c.2717T>G (p.Val906Gly) n.546T>G c.388T>G n.164T>G n.3019T>G c.4037T>G (p.Val1346Gly) c.3665T>G (p.Val1222Gly) c.4028T>G (p.Val1343Gly) c.3329T>G (p.Val1110Gly) c.4076T>G (p.Val1359Gly)	dbSNP
16	g.3740450A>G	CA394565307	CREBBP	c.4082T>C (p.Val1361Ala) c.3968T>C (p.Val1323Ala) c.2717T>C (p.Val906Ala) n.546T>C c.388T>C n.164T>C n.3019T>C c.4037T>C (p.Val1346Ala) c.3665T>C (p.Val1222Ala) c.4028T>C (p.Val1343Ala) c.3329T>C (p.Val1110Ala) c.4076T>C (p.Val1359Ala)	dbSNP
16	g.3740450A>T	CA394565308	CREBBP	c.4082T>A (p.Val1361Glu) c.3968T>A (p.Val1323Glu) c.2717T>A (p.Val906Glu) n.546T>A c.388T>A n.164T>A n.3019T>A c.4037T>A (p.Val1346Glu) c.3665T>A (p.Val1222Glu) c.4028T>A (p.Val1343Glu) c.3329T>A (p.Val1110Glu) c.4076T>A (p.Val1359Glu)	dbSNP
16	g.3740451C>A	CA394565310	CREBBP	c.4081G>T (p.Val1361Leu) c.3967G>T (p.Val1323Leu) c.2716G>T (p.Val906Leu) n.545G>T c.387G>T n.163G>T n.3018G>T c.4036G>T (p.Val1346Leu) c.3664G>T (p.Val1222Leu) c.4027G>T (p.Val1343Leu) c.3328G>T (p.Val1110Leu) c.4075G>T (p.Val1359Leu)
16	g.3740451C=	CA2202940832	CREBBP	c.4081G= (p.Val1361=) c.3967G= (p.Val1323=) c.2716G= (p.Val906=) n.545G= c.387G= n.163G= n.3018G= c.4036G= (p.Val1346=) c.3664G= (p.Val1222=) c.4027G= (p.Val1343=) c.3328G= (p.Val1110=) c.4075G= (p.Val1359=)
16	g.3740451C>G	CA276983206	CREBBP	c.4081G>C (p.Val1361Leu) c.3967G>C (p.Val1323Leu) c.2716G>C (p.Val906Leu) n.545G>C c.387G>C n.163G>C n.3018G>C c.4036G>C (p.Val1346Leu) c.3664G>C (p.Val1222Leu) c.4027G>C (p.Val1343Leu) c.3328G>C (p.Val1110Leu) c.4075G>C (p.Val1359Leu)	dbSNP
16	g.3740451C>T	CA394565309	CREBBP	c.4081G>A (p.Val1361Met) c.3967G>A (p.Val1323Met) c.2716G>A (p.Val906Met) n.545G>A c.387G>A n.163G>A n.3018G>A c.4036G>A (p.Val1346Met) c.3664G>A (p.Val1222Met) c.4027G>A (p.Val1343Met) c.3328G>A (p.Val1110Met) c.4075G>A (p.Val1359Met)	gnomAD v4
16	g.3740452T>A	CA493280352	CREBBP	c.4080A>T (p.Arg1360=) c.3966A>T (p.Arg1322=) c.2715A>T (p.Arg905=) n.544A>T c.386A>T n.162A>T n.3017A>T c.4035A>T (p.Arg1345=) c.3663A>T (p.Arg1221=) c.4026A>T (p.Arg1342=) c.3327A>T (p.Arg1109=) c.4074A>T (p.Arg1358=)	dbSNP
16	g.3740452T>C	CA493280353	CREBBP	c.4080A>G (p.Arg1360=) c.3966A>G (p.Arg1322=) c.2715A>G (p.Arg905=) n.544A>G c.386A>G n.162A>G n.3017A>G c.4035A>G (p.Arg1345=) c.3663A>G (p.Arg1221=) c.4026A>G (p.Arg1342=) c.3327A>G (p.Arg1109=) c.4074A>G (p.Arg1358=)	dbSNP
16	g.3740452T>G	CA493280354	CREBBP	c.4080A>C (p.Arg1360=) c.3966A>C (p.Arg1322=) c.2715A>C (p.Arg905=) n.544A>C c.386A>C n.162A>C n.3017A>C c.4035A>C (p.Arg1345=) c.3663A>C (p.Arg1221=) c.4026A>C (p.Arg1342=) c.3327A>C (p.Arg1109=) c.4074A>C (p.Arg1358=)
16	g.3740453C>A	CA394565311	CREBBP	c.4079G>T (p.Arg1360Leu) c.3965G>T (p.Arg1322Leu) c.2714G>T (p.Arg905Leu) n.543G>T c.385G>T n.161G>T n.3016G>T c.4034G>T (p.Arg1345Leu) c.3662G>T (p.Arg1221Leu) c.4025G>T (p.Arg1342Leu) c.3326G>T (p.Arg1109Leu) c.4073G>T (p.Arg1358Leu)	dbSNP
16	g.3740453C=	CA2202940835	CREBBP	c.4079G= (p.Arg1360=) c.3965G= (p.Arg1322=) c.2714G= (p.Arg905=) n.543G= c.385G= n.161G= n.3016G= c.4034G= (p.Arg1345=) c.3662G= (p.Arg1221=) c.4025G= (p.Arg1342=) c.3326G= (p.Arg1109=) c.4073G= (p.Arg1358=)
16	g.3740453C>G	CA394565312	CREBBP	c.4079G>C (p.Arg1360Pro) c.3965G>C (p.Arg1322Pro) c.2714G>C (p.Arg905Pro) n.543G>C c.385G>C n.161G>C n.3016G>C c.4034G>C (p.Arg1345Pro) c.3662G>C (p.Arg1221Pro) c.4025G>C (p.Arg1342Pro) c.3326G>C (p.Arg1109Pro) c.4073G>C (p.Arg1358Pro)	dbSNP
16	g.3740453C>T	CA394565313	CREBBP	c.4079G>A (p.Arg1360Gln) c.3965G>A (p.Arg1322Gln) c.2714G>A (p.Arg905Gln) n.543G>A c.385G>A n.161G>A n.3016G>A c.4034G>A (p.Arg1345Gln) c.3662G>A (p.Arg1221Gln) c.4025G>A (p.Arg1342Gln) c.3326G>A (p.Arg1109Gln) c.4073G>A (p.Arg1358Gln)	dbSNP gnomAD v3 gnomAD v4
16	g.3740454G>A	CA271405	CREBBP	c.4078C>T (p.Arg1360Ter) c.3964C>T (p.Arg1322Ter) c.2713C>T (p.Arg905Ter) n.542C>T c.384C>T n.160C>T n.3015C>T c.4033C>T (p.Arg1345Ter) c.3661C>T (p.Arg1221Ter) c.4024C>T (p.Arg1342Ter) c.3325C>T (p.Arg1109Ter) c.4072C>T (p.Arg1358Ter)	ClinVar dbSNP COSMIC
16	g.3740454G>C	CA394565314	CREBBP	c.4078C>G (p.Arg1360Gly) c.3964C>G (p.Arg1322Gly) c.2713C>G (p.Arg905Gly) n.542C>G c.384C>G n.160C>G n.3015C>G c.4033C>G (p.Arg1345Gly) c.3661C>G (p.Arg1221Gly) c.4024C>G (p.Arg1342Gly) c.3325C>G (p.Arg1109Gly) c.4072C>G (p.Arg1358Gly)	dbSNP
16	g.3740454G=	CA2202940843	CREBBP	c.4078C= (p.Arg1360=) c.3964C= (p.Arg1322=) c.2713C= (p.Arg905=) n.542C= c.384C= n.160C= n.3015C= c.4033C= (p.Arg1345=) c.3661C= (p.Arg1221=) c.4024C= (p.Arg1342=) c.3325C= (p.Arg1109=) c.4072C= (p.Arg1358=)
16	g.3740454G>T	CA493280357	CREBBP	c.4078C>A (p.Arg1360=) c.3964C>A (p.Arg1322=) c.2713C>A (p.Arg905=) n.542C>A c.384C>A n.160C>A n.3015C>A c.4033C>A (p.Arg1345=) c.3661C>A (p.Arg1221=) c.4024C>A (p.Arg1342=) c.3325C>A (p.Arg1109=) c.4072C>A (p.Arg1358=)	dbSNP
16	g.3740455dup	CA915949075	CREBBP	c.4078dup (p.Arg1360ProfsTer28) c.3964dup (p.Arg1322ProfsTer28) c.2713dup (p.Arg905ProfsTer28) n.542dup c.384dup n.160dup n.3015dup c.4033dup (p.Arg1345ProfsTer28) c.3661dup (p.Arg1221ProfsTer28) c.4078dup (p.Arg1360ProfsTer?) c.4024dup (p.Arg1342ProfsTer28) c.3325dup (p.Arg1109ProfsTer28) c.4072dup (p.Arg1358ProfsTer28)	ClinVar dbSNP
16	g.3740455G>A	CA493280359	CREBBP	c.4077C>T (p.Val1359=) c.3963C>T (p.Val1321=) c.2712C>T (p.Val904=) n.541C>T c.383C>T n.159C>T n.3014C>T c.4032C>T (p.Val1344=) c.3660C>T (p.Val1220=) c.4023C>T (p.Val1341=) c.3324C>T (p.Val1108=) c.4071C>T (p.Val1357=)	dbSNP
16	g.3740455G>C	CA493280360	CREBBP	c.4077C>G (p.Val1359=) c.3963C>G (p.Val1321=) c.2712C>G (p.Val904=) n.541C>G c.383C>G n.159C>G n.3014C>G c.4032C>G (p.Val1344=) c.3660C>G (p.Val1220=) c.4023C>G (p.Val1341=) c.3324C>G (p.Val1108=) c.4071C>G (p.Val1357=)	dbSNP
16	g.3740455G>T	CA493280361	CREBBP	c.4077C>A (p.Val1359=) c.3963C>A (p.Val1321=) c.2712C>A (p.Val904=) n.541C>A c.383C>A n.159C>A n.3014C>A c.4032C>A (p.Val1344=) c.3660C>A (p.Val1220=) c.4023C>A (p.Val1341=) c.3324C>A (p.Val1108=) c.4071C>A (p.Val1357=)	dbSNP
16	g.3740456A>C	CA394565315	CREBBP	c.4076T>G (p.Val1359Gly) c.3962T>G (p.Val1321Gly) c.2711T>G (p.Val904Gly) n.540T>G c.382T>G n.158T>G n.3013T>G c.4031T>G (p.Val1344Gly) c.3659T>G (p.Val1220Gly) c.4022T>G (p.Val1341Gly) c.3323T>G (p.Val1108Gly) c.4070T>G (p.Val1357Gly)	dbSNP
16	g.3740456A>G	CA394565316	CREBBP	c.4076T>C (p.Val1359Ala) c.3962T>C (p.Val1321Ala) c.2711T>C (p.Val904Ala) n.540T>C c.382T>C n.158T>C n.3013T>C c.4031T>C (p.Val1344Ala) c.3659T>C (p.Val1220Ala) c.4022T>C (p.Val1341Ala) c.3323T>C (p.Val1108Ala) c.4070T>C (p.Val1357Ala)
16	g.3740456A>T	CA394565317	CREBBP	c.4076T>A (p.Val1359Asp) c.3962T>A (p.Val1321Asp) c.2711T>A (p.Val904Asp) n.540T>A c.382T>A n.158T>A n.3013T>A c.4031T>A (p.Val1344Asp) c.3659T>A (p.Val1220Asp) c.4022T>A (p.Val1341Asp) c.3323T>A (p.Val1108Asp) c.4070T>A (p.Val1357Asp)	dbSNP gnomAD v4
16	g.3740457C>A	CA394565318	CREBBP	c.4075G>T (p.Val1359Phe) c.3961G>T (p.Val1321Phe) c.2710G>T (p.Val904Phe) n.539G>T c.381G>T n.157G>T n.3012G>T c.4030G>T (p.Val1344Phe) c.3658G>T (p.Val1220Phe) c.4021G>T (p.Val1341Phe) c.3322G>T (p.Val1108Phe) c.4069G>T (p.Val1357Phe)	dbSNP
16	g.3740457C=	CA2202940846	CREBBP	c.4075G= (p.Val1359=) c.3961G= (p.Val1321=) c.2710G= (p.Val904=) n.539G= c.381G= n.157G= n.3012G= c.4030G= (p.Val1344=) c.3658G= (p.Val1220=) c.4021G= (p.Val1341=) c.3322G= (p.Val1108=) c.4069G= (p.Val1357=)
16	g.3740457C>G	CA394565319	CREBBP	c.4075G>C (p.Val1359Leu) c.3961G>C (p.Val1321Leu) c.2710G>C (p.Val904Leu) n.539G>C c.381G>C n.157G>C n.3012G>C c.4030G>C (p.Val1344Leu) c.3658G>C (p.Val1220Leu) c.4021G>C (p.Val1341Leu) c.3322G>C (p.Val1108Leu) c.4069G>C (p.Val1357Leu)	dbSNP
16	g.3740457C>T	CA394565320	CREBBP	c.4075G>A (p.Val1359Ile) c.3961G>A (p.Val1321Ile) c.2710G>A (p.Val904Ile) n.539G>A c.381G>A n.157G>A n.3012G>A c.4030G>A (p.Val1344Ile) c.3658G>A (p.Val1220Ile) c.4021G>A (p.Val1341Ile) c.3322G>A (p.Val1108Ile) c.4069G>A (p.Val1357Ile)	dbSNP gnomAD v2 gnomAD v4
16	g.3740458A=	CA2202940848	CREBBP	c.4074T= (p.Phe1358=) c.3960T= (p.Phe1320=) c.2709T= (p.Phe903=) n.538T= c.380T= n.156T= n.3011T= c.4029T= (p.Phe1343=) c.3657T= (p.Phe1219=) c.4020T= (p.Phe1340=) c.3321T= (p.Phe1107=) c.4068T= (p.Phe1356=)
16	g.3740458A>C	CA394565321	CREBBP	c.4074T>G (p.Phe1358Leu) c.3960T>G (p.Phe1320Leu) c.2709T>G (p.Phe903Leu) n.538T>G c.380T>G n.156T>G n.3011T>G c.4029T>G (p.Phe1343Leu) c.3657T>G (p.Phe1219Leu) c.4020T>G (p.Phe1340Leu) c.3321T>G (p.Phe1107Leu) c.4068T>G (p.Phe1356Leu)
16	g.3740458A>G	CA493280365	CREBBP	c.4074T>C (p.Phe1358=) c.3960T>C (p.Phe1320=) c.2709T>C (p.Phe903=) n.538T>C c.380T>C n.156T>C n.3011T>C c.4029T>C (p.Phe1343=) c.3657T>C (p.Phe1219=) c.4020T>C (p.Phe1340=) c.3321T>C (p.Phe1107=) c.4068T>C (p.Phe1356=)	dbSNP gnomAD v3 gnomAD v4
16	g.3740458A>T	CA394565322	CREBBP	c.4074T>A (p.Phe1358Leu) c.3960T>A (p.Phe1320Leu) c.2709T>A (p.Phe903Leu) n.538T>A c.380T>A n.156T>A n.3011T>A c.4029T>A (p.Phe1343Leu) c.3657T>A (p.Phe1219Leu) c.4020T>A (p.Phe1340Leu) c.3321T>A (p.Phe1107Leu) c.4068T>A (p.Phe1356Leu)
16	g.3740462del	CA493280367	CREBBP	c.4074del (p.Phe1358LeufsTer18) c.3960del (p.Phe1320LeufsTer18) c.2709del (p.Phe903LeufsTer18) n.538del c.380del n.156del n.3011del c.4029del (p.Phe1343LeufsTer18) c.3657del (p.Phe1219LeufsTer18) c.4020del (p.Phe1340LeufsTer18) c.3321del (p.Phe1107LeufsTer18) c.4068del (p.Phe1356LeufsTer18)	COSMIC
16	g.3740459A=	CA2202940851	CREBBP	c.4073T= (p.Phe1358=) c.3959T= (p.Phe1320=) c.2708T= (p.Phe903=) n.537T= c.379T= n.155T= n.3010T= c.4028T= (p.Phe1343=) c.3656T= (p.Phe1219=) c.4019T= (p.Phe1340=) c.3320T= (p.Phe1107=) c.4067T= (p.Phe1356=)
16	g.3740459A>C	CA394565324	CREBBP	c.4073T>G (p.Phe1358Cys) c.3959T>G (p.Phe1320Cys) c.2708T>G (p.Phe903Cys) n.537T>G c.379T>G n.155T>G n.3010T>G c.4028T>G (p.Phe1343Cys) c.3656T>G (p.Phe1219Cys) c.4019T>G (p.Phe1340Cys) c.3320T>G (p.Phe1107Cys) c.4067T>G (p.Phe1356Cys)	dbSNP
16	g.3740459A>G	CA7869624	CREBBP	c.4073T>C (p.Phe1358Ser) c.3959T>C (p.Phe1320Ser) c.2708T>C (p.Phe903Ser) n.537T>C c.379T>C n.155T>C n.3010T>C c.4028T>C (p.Phe1343Ser) c.3656T>C (p.Phe1219Ser) c.4019T>C (p.Phe1340Ser) c.3320T>C (p.Phe1107Ser) c.4067T>C (p.Phe1356Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740459A>T	CA394565323	CREBBP	c.4073T>A (p.Phe1358Tyr) c.3959T>A (p.Phe1320Tyr) c.2708T>A (p.Phe903Tyr) n.537T>A c.379T>A n.155T>A n.3010T>A c.4028T>A (p.Phe1343Tyr) c.3656T>A (p.Phe1219Tyr) c.4019T>A (p.Phe1340Tyr) c.3320T>A (p.Phe1107Tyr) c.4067T>A (p.Phe1356Tyr)	dbSNP
16	g.3740460A>C	CA394565325	CREBBP	c.4072T>G (p.Phe1358Val) c.3958T>G (p.Phe1320Val) c.2707T>G (p.Phe903Val) n.536T>G c.378T>G n.154T>G n.3009T>G c.4027T>G (p.Phe1343Val) c.3655T>G (p.Phe1219Val) c.4018T>G (p.Phe1340Val) c.3319T>G (p.Phe1107Val) c.4066T>G (p.Phe1356Val)
16	g.3740460A>G	CA394565327	CREBBP	c.4072T>C (p.Phe1358Leu) c.3958T>C (p.Phe1320Leu) c.2707T>C (p.Phe903Leu) n.536T>C c.378T>C n.154T>C n.3009T>C c.4027T>C (p.Phe1343Leu) c.3655T>C (p.Phe1219Leu) c.4018T>C (p.Phe1340Leu) c.3319T>C (p.Phe1107Leu) c.4066T>C (p.Phe1356Leu)	dbSNP
16	g.3740460A>T	CA394565326	CREBBP	c.4072T>A (p.Phe1358Ile) c.3958T>A (p.Phe1320Ile) c.2707T>A (p.Phe903Ile) n.536T>A c.378T>A n.154T>A n.3009T>A c.4027T>A (p.Phe1343Ile) c.3655T>A (p.Phe1219Ile) c.4018T>A (p.Phe1340Ile) c.3319T>A (p.Phe1107Ile) c.4066T>A (p.Phe1356Ile)
16	g.3740461A>C	CA493280370	CREBBP	c.4071T>G (p.Val1357=) c.3957T>G (p.Val1319=) c.2706T>G (p.Val902=) n.535T>G c.377T>G n.153T>G n.3008T>G c.4026T>G (p.Val1342=) c.3654T>G (p.Val1218=) c.4017T>G (p.Val1339=) c.3318T>G (p.Val1106=) c.4065T>G (p.Val1355=)	dbSNP
16	g.3740461A>G	CA493280371	CREBBP	c.4071T>C (p.Val1357=) c.3957T>C (p.Val1319=) c.2706T>C (p.Val902=) n.535T>C c.377T>C n.153T>C n.3008T>C c.4026T>C (p.Val1342=) c.3654T>C (p.Val1218=) c.4017T>C (p.Val1339=) c.3318T>C (p.Val1106=) c.4065T>C (p.Val1355=)
16	g.3740461A>T	CA493280372	CREBBP	c.4071T>A (p.Val1357=) c.3957T>A (p.Val1319=) c.2706T>A (p.Val902=) n.535T>A c.377T>A n.153T>A n.3008T>A c.4026T>A (p.Val1342=) c.3654T>A (p.Val1218=) c.4017T>A (p.Val1339=) c.3318T>A (p.Val1106=) c.4065T>A (p.Val1355=)	dbSNP
16	g.3740461_3740465del	CA2580091123	CREBBP	c.4067_4071del (p.Glu1356ValfsTer30) c.3953_3957del (p.Glu1318ValfsTer30) c.2702_2706del (p.Glu901ValfsTer30) n.531_535del c.373_377del n.149_153del n.3004_3008del c.4022_4026del (p.Glu1341ValfsTer30) c.3650_3654del (p.Glu1217ValfsTer30) c.4067_4071del (p.Glu1356ValfsTer?) c.4013_4017del (p.Glu1338ValfsTer30) c.3314_3318del (p.Glu1105ValfsTer30) c.4061_4065del (p.Glu1354ValfsTer30)	ClinVar
16	g.3740462A>C	CA394565328	CREBBP	c.4070T>G (p.Val1357Gly) c.3956T>G (p.Val1319Gly) c.2705T>G (p.Val902Gly) n.534T>G c.376T>G n.152T>G n.3007T>G c.4025T>G (p.Val1342Gly) c.3653T>G (p.Val1218Gly) c.4016T>G (p.Val1339Gly) c.3317T>G (p.Val1106Gly) c.4064T>G (p.Val1355Gly)	dbSNP
16	g.3740462A>G	CA394565329	CREBBP	c.4070T>C (p.Val1357Ala) c.3956T>C (p.Val1319Ala) c.2705T>C (p.Val902Ala) n.534T>C c.376T>C n.152T>C n.3007T>C c.4025T>C (p.Val1342Ala) c.3653T>C (p.Val1218Ala) c.4016T>C (p.Val1339Ala) c.3317T>C (p.Val1106Ala) c.4064T>C (p.Val1355Ala)	dbSNP
16	g.3740462A>T	CA394565330	CREBBP	c.4070T>A (p.Val1357Asp) c.3956T>A (p.Val1319Asp) c.2705T>A (p.Val902Asp) n.534T>A c.376T>A n.152T>A n.3007T>A c.4025T>A (p.Val1342Asp) c.3653T>A (p.Val1218Asp) c.4016T>A (p.Val1339Asp) c.3317T>A (p.Val1106Asp) c.4064T>A (p.Val1355Asp)	dbSNP
16	g.3740463C>A	CA394565331	CREBBP	c.4069G>T (p.Val1357Phe) c.3955G>T (p.Val1319Phe) c.2704G>T (p.Val902Phe) n.533G>T c.375G>T n.151G>T n.3006G>T c.4024G>T (p.Val1342Phe) c.3652G>T (p.Val1218Phe) c.4015G>T (p.Val1339Phe) c.3316G>T (p.Val1106Phe) c.4063G>T (p.Val1355Phe)	dbSNP
16	g.3740463C=	CA2202940855	CREBBP	c.4069G= (p.Val1357=) c.3955G= (p.Val1319=) c.2704G= (p.Val902=) n.533G= c.375G= n.151G= n.3006G= c.4024G= (p.Val1342=) c.3652G= (p.Val1218=) c.4015G= (p.Val1339=) c.3316G= (p.Val1106=) c.4063G= (p.Val1355=)
16	g.3740463C>G	CA394565332	CREBBP	c.4069G>C (p.Val1357Leu) c.3955G>C (p.Val1319Leu) c.2704G>C (p.Val902Leu) n.533G>C c.375G>C n.151G>C n.3006G>C c.4024G>C (p.Val1342Leu) c.3652G>C (p.Val1218Leu) c.4015G>C (p.Val1339Leu) c.3316G>C (p.Val1106Leu) c.4063G>C (p.Val1355Leu)	dbSNP
16	g.3740463C>T	CA394565333	CREBBP	c.4069G>A (p.Val1357Ile) c.3955G>A (p.Val1319Ile) c.2704G>A (p.Val902Ile) n.533G>A c.375G>A n.151G>A n.3006G>A c.4024G>A (p.Val1342Ile) c.3652G>A (p.Val1218Ile) c.4015G>A (p.Val1339Ile) c.3316G>A (p.Val1106Ile) c.4063G>A (p.Val1355Ile)	dbSNP gnomAD v3 gnomAD v4
16	g.3740464C>A	CA394565334	CREBBP	c.4068G>T (p.Glu1356Asp) c.3954G>T (p.Glu1318Asp) c.2703G>T (p.Glu901Asp) n.532G>T c.374G>T n.150G>T n.3005G>T c.4023G>T (p.Glu1341Asp) c.3651G>T (p.Glu1217Asp) c.4014G>T (p.Glu1338Asp) c.3315G>T (p.Glu1105Asp) c.4062G>T (p.Glu1354Asp)	dbSNP
16	g.3740464C=	CA2202940857	CREBBP	c.4068G= (p.Glu1356=) c.3954G= (p.Glu1318=) c.2703G= (p.Glu901=) n.532G= c.374G= n.150G= n.3005G= c.4023G= (p.Glu1341=) c.3651G= (p.Glu1217=) c.4014G= (p.Glu1338=) c.3315G= (p.Glu1105=) c.4062G= (p.Glu1354=)
16	g.3740464C>G	CA394565335	CREBBP	c.4068G>C (p.Glu1356Asp) c.3954G>C (p.Glu1318Asp) c.2703G>C (p.Glu901Asp) n.532G>C c.374G>C n.150G>C n.3005G>C c.4023G>C (p.Glu1341Asp) c.3651G>C (p.Glu1217Asp) c.4014G>C (p.Glu1338Asp) c.3315G>C (p.Glu1105Asp) c.4062G>C (p.Glu1354Asp)	dbSNP
16	g.3740464C>T	CA7869625	CREBBP	c.4068G>A (p.Glu1356=) c.3954G>A (p.Glu1318=) c.2703G>A (p.Glu901=) n.532G>A c.374G>A n.150G>A n.3005G>A c.4023G>A (p.Glu1341=) c.3651G>A (p.Glu1217=) c.4014G>A (p.Glu1338=) c.3315G>A (p.Glu1105=) c.4062G>A (p.Glu1354=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740465T>A	CA394565336	CREBBP	c.4067A>T (p.Glu1356Val) c.3953A>T (p.Glu1318Val) c.2702A>T (p.Glu901Val) n.531A>T c.373A>T n.149A>T n.3004A>T c.4022A>T (p.Glu1341Val) c.3650A>T (p.Glu1217Val) c.4013A>T (p.Glu1338Val) c.3314A>T (p.Glu1105Val) c.4061A>T (p.Glu1354Val)
16	g.3740465T>C	CA394565337	CREBBP	c.4067A>G (p.Glu1356Gly) c.3953A>G (p.Glu1318Gly) c.2702A>G (p.Glu901Gly) n.531A>G c.373A>G n.149A>G n.3004A>G c.4022A>G (p.Glu1341Gly) c.3650A>G (p.Glu1217Gly) c.4013A>G (p.Glu1338Gly) c.3314A>G (p.Glu1105Gly) c.4061A>G (p.Glu1354Gly)	dbSNP
16	g.3740465T>G	CA394565338	CREBBP	c.4067A>C (p.Glu1356Ala) c.3953A>C (p.Glu1318Ala) c.2702A>C (p.Glu901Ala) n.531A>C c.373A>C n.149A>C n.3004A>C c.4022A>C (p.Glu1341Ala) c.3650A>C (p.Glu1217Ala) c.4013A>C (p.Glu1338Ala) c.3314A>C (p.Glu1105Ala) c.4061A>C (p.Glu1354Ala)
16	g.3740466C>A	CA394565341	CREBBP	c.4066G>T (p.Glu1356Ter) c.3952G>T (p.Glu1318Ter) c.2701G>T (p.Glu901Ter) n.530G>T c.372G>T n.148G>T n.3003G>T c.4021G>T (p.Glu1341Ter) c.3649G>T (p.Glu1217Ter) c.4012G>T (p.Glu1338Ter) c.3313G>T (p.Glu1105Ter) c.4060G>T (p.Glu1354Ter)	dbSNP
16	g.3740466C=	CA2202940862	CREBBP	c.4066G= (p.Glu1356=) c.3952G= (p.Glu1318=) c.2701G= (p.Glu901=) n.530G= c.372G= n.148G= n.3003G= c.4021G= (p.Glu1341=) c.3649G= (p.Glu1217=) c.4012G= (p.Glu1338=) c.3313G= (p.Glu1105=) c.4060G= (p.Glu1354=)
16	g.3740466C>G	CA394565339	CREBBP	c.4066G>C (p.Glu1356Gln) c.3952G>C (p.Glu1318Gln) c.2701G>C (p.Glu901Gln) n.530G>C c.372G>C n.148G>C n.3003G>C c.4021G>C (p.Glu1341Gln) c.3649G>C (p.Glu1217Gln) c.4012G>C (p.Glu1338Gln) c.3313G>C (p.Glu1105Gln) c.4060G>C (p.Glu1354Gln)	dbSNP
16	g.3740466C>T	CA394565340	CREBBP	c.4066G>A (p.Glu1356Lys) c.3952G>A (p.Glu1318Lys) c.2701G>A (p.Glu901Lys) n.530G>A c.372G>A n.148G>A n.3003G>A c.4021G>A (p.Glu1341Lys) c.3649G>A (p.Glu1217Lys) c.4012G>A (p.Glu1338Lys) c.3313G>A (p.Glu1105Lys) c.4060G>A (p.Glu1354Lys)	ClinVar dbSNP
16	g.3740467C>A	CA493280377	CREBBP	c.4065G>T (p.Gly1355=) c.3951G>T (p.Gly1317=) c.2700G>T (p.Gly900=) n.529G>T c.371G>T n.147G>T n.3002G>T c.4020G>T (p.Gly1340=) c.3648G>T (p.Gly1216=) c.4011G>T (p.Gly1337=) c.3312G>T (p.Gly1104=) c.4059G>T (p.Gly1353=)	dbSNP
16	g.3740467C>G	CA493280378	CREBBP	c.4065G>C (p.Gly1355=) c.3951G>C (p.Gly1317=) c.2700G>C (p.Gly900=) n.529G>C c.371G>C n.147G>C n.3002G>C c.4020G>C (p.Gly1340=) c.3648G>C (p.Gly1216=) c.4011G>C (p.Gly1337=) c.3312G>C (p.Gly1104=) c.4059G>C (p.Gly1353=)	dbSNP
16	g.3740467C>T	CA493280379	CREBBP	c.4065G>A (p.Gly1355=) c.3951G>A (p.Gly1317=) c.2700G>A (p.Gly900=) n.529G>A c.371G>A n.147G>A n.3002G>A c.4020G>A (p.Gly1340=) c.3648G>A (p.Gly1216=) c.4011G>A (p.Gly1337=) c.3312G>A (p.Gly1104=) c.4059G>A (p.Gly1353=)	dbSNP
16	g.3740468C>A	CA394565342	CREBBP	c.4064G>T (p.Gly1355Val) c.3950G>T (p.Gly1317Val) c.2699G>T (p.Gly900Val) n.528G>T c.370G>T n.146G>T n.3001G>T c.4019G>T (p.Gly1340Val) c.3647G>T (p.Gly1216Val) c.4010G>T (p.Gly1337Val) c.3311G>T (p.Gly1104Val) c.4058G>T (p.Gly1353Val)	dbSNP
16	g.3740468C>G	CA394565343	CREBBP	c.4064G>C (p.Gly1355Ala) c.3950G>C (p.Gly1317Ala) c.2699G>C (p.Gly900Ala) n.528G>C c.370G>C n.146G>C n.3001G>C c.4019G>C (p.Gly1340Ala) c.3647G>C (p.Gly1216Ala) c.4010G>C (p.Gly1337Ala) c.3311G>C (p.Gly1104Ala) c.4058G>C (p.Gly1353Ala)	dbSNP
16	g.3740468C>T	CA394565344	CREBBP	c.4064G>A (p.Gly1355Glu) c.3950G>A (p.Gly1317Glu) c.2699G>A (p.Gly900Glu) n.528G>A c.370G>A n.146G>A n.3001G>A c.4019G>A (p.Gly1340Glu) c.3647G>A (p.Gly1216Glu) c.4010G>A (p.Gly1337Glu) c.3311G>A (p.Gly1104Glu) c.4058G>A (p.Gly1353Glu)	dbSNP
16	g.3740469C>A	CA394565345	CREBBP	c.4063G>T (p.Gly1355Trp) c.3949G>T (p.Gly1317Trp) c.2698G>T (p.Gly900Trp) n.527G>T c.369G>T n.145G>T n.3000G>T c.4018G>T (p.Gly1340Trp) c.3646G>T (p.Gly1216Trp) c.4009G>T (p.Gly1337Trp) c.3310G>T (p.Gly1104Trp) c.4057G>T (p.Gly1353Trp)	dbSNP
16	g.3740469C=	CA2202940864	CREBBP	c.4063G= (p.Gly1355=) c.3949G= (p.Gly1317=) c.2698G= (p.Gly900=) n.527G= c.369G= n.145G= n.3000G= c.4018G= (p.Gly1340=) c.3646G= (p.Gly1216=) c.4009G= (p.Gly1337=) c.3310G= (p.Gly1104=) c.4057G= (p.Gly1353=)
16	g.3740469C>G	CA394565346	CREBBP	c.4063G>C (p.Gly1355Arg) c.3949G>C (p.Gly1317Arg) c.2698G>C (p.Gly900Arg) n.527G>C c.369G>C n.145G>C n.3000G>C c.4018G>C (p.Gly1340Arg) c.3646G>C (p.Gly1216Arg) c.4009G>C (p.Gly1337Arg) c.3310G>C (p.Gly1104Arg) c.4057G>C (p.Gly1353Arg)
16	g.3740469C>T	CA7869626	CREBBP	c.4063G>A (p.Gly1355Arg) c.3949G>A (p.Gly1317Arg) c.2698G>A (p.Gly900Arg) n.527G>A c.369G>A n.145G>A n.3000G>A c.4018G>A (p.Gly1340Arg) c.3646G>A (p.Gly1216Arg) c.4009G>A (p.Gly1337Arg) c.3310G>A (p.Gly1104Arg) c.4057G>A (p.Gly1353Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740470G>A	CA7869627	CREBBP	c.4062C>T (p.Ala1354=) c.3948C>T (p.Ala1316=) c.2697C>T (p.Ala899=) n.526C>T c.368C>T n.144C>T n.2999C>T c.4017C>T (p.Ala1339=) c.3645C>T (p.Ala1215=) c.4008C>T (p.Ala1336=) c.3309C>T (p.Ala1103=) c.4056C>T (p.Ala1352=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.3740470G>C	CA493280383	CREBBP	c.4062C>G (p.Ala1354=) c.3948C>G (p.Ala1316=) c.2697C>G (p.Ala899=) n.526C>G c.368C>G n.144C>G n.2999C>G c.4017C>G (p.Ala1339=) c.3645C>G (p.Ala1215=) c.4008C>G (p.Ala1336=) c.3309C>G (p.Ala1103=) c.4056C>G (p.Ala1352=)	ClinVar dbSNP gnomAD v4
16	g.3740470G=	CA2202940866	CREBBP	c.4062C= (p.Ala1354=) c.3948C= (p.Ala1316=) c.2697C= (p.Ala899=) n.526C= c.368C= n.144C= n.2999C= c.4017C= (p.Ala1339=) c.3645C= (p.Ala1215=) c.4008C= (p.Ala1336=) c.3309C= (p.Ala1103=) c.4056C= (p.Ala1352=)
16	g.3740470G>T	CA493280384	CREBBP	c.4062C>A (p.Ala1354=) c.3948C>A (p.Ala1316=) c.2697C>A (p.Ala899=) n.526C>A c.368C>A n.144C>A n.2999C>A c.4017C>A (p.Ala1339=) c.3645C>A (p.Ala1215=) c.4008C>A (p.Ala1336=) c.3309C>A (p.Ala1103=) c.4056C>A (p.Ala1352=)	dbSNP
16	g.3740471G>A	CA394565347	CREBBP	c.4061C>T (p.Ala1354Val) c.3947C>T (p.Ala1316Val) c.2696C>T (p.Ala899Val) n.525C>T c.367C>T n.143C>T n.2998C>T c.4016C>T (p.Ala1339Val) c.3644C>T (p.Ala1215Val) c.4007C>T (p.Ala1336Val) c.3308C>T (p.Ala1103Val) c.4055C>T (p.Ala1352Val)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.3740471G>C	CA394565348	CREBBP	c.4061C>G (p.Ala1354Gly) c.3947C>G (p.Ala1316Gly) c.2696C>G (p.Ala899Gly) n.525C>G c.367C>G n.143C>G n.2998C>G c.4016C>G (p.Ala1339Gly) c.3644C>G (p.Ala1215Gly) c.4007C>G (p.Ala1336Gly) c.3308C>G (p.Ala1103Gly) c.4055C>G (p.Ala1352Gly)	dbSNP
16	g.3740471G=	CA2202940869	CREBBP	c.4061C= (p.Ala1354=) c.3947C= (p.Ala1316=) c.2696C= (p.Ala899=) n.525C= c.367C= n.143C= n.2998C= c.4016C= (p.Ala1339=) c.3644C= (p.Ala1215=) c.4007C= (p.Ala1336=) c.3308C= (p.Ala1103=) c.4055C= (p.Ala1352=)
16	g.3740471G>T	CA394565349	CREBBP	c.4061C>A (p.Ala1354Asp) c.3947C>A (p.Ala1316Asp) c.2696C>A (p.Ala899Asp) n.525C>A c.367C>A n.143C>A n.2998C>A c.4016C>A (p.Ala1339Asp) c.3644C>A (p.Ala1215Asp) c.4007C>A (p.Ala1336Asp) c.3308C>A (p.Ala1103Asp) c.4055C>A (p.Ala1352Asp)	dbSNP
16	g.3740472C>A	CA394565352	CREBBP	c.4060G>T (p.Ala1354Ser) c.3946G>T (p.Ala1316Ser) c.2695G>T (p.Ala899Ser) n.524G>T c.366G>T n.142G>T n.2997G>T c.4015G>T (p.Ala1339Ser) c.3643G>T (p.Ala1215Ser) c.4006G>T (p.Ala1336Ser) c.3307G>T (p.Ala1103Ser) c.4054G>T (p.Ala1352Ser)	dbSNP
16	g.3740472C=	CA2202940870	CREBBP	c.4060G= (p.Ala1354=) c.3946G= (p.Ala1316=) c.2695G= (p.Ala899=) n.524G= c.366G= n.142G= n.2997G= c.4015G= (p.Ala1339=) c.3643G= (p.Ala1215=) c.4006G= (p.Ala1336=) c.3307G= (p.Ala1103=) c.4054G= (p.Ala1352=)
16	g.3740472C>G	CA394565351	CREBBP	c.4060G>C (p.Ala1354Pro) c.3946G>C (p.Ala1316Pro) c.2695G>C (p.Ala899Pro) n.524G>C c.366G>C n.142G>C n.2997G>C c.4015G>C (p.Ala1339Pro) c.3643G>C (p.Ala1215Pro) c.4006G>C (p.Ala1336Pro) c.3307G>C (p.Ala1103Pro) c.4054G>C (p.Ala1352Pro)	dbSNP
16	g.3740472C>T	CA394565350	CREBBP	c.4060G>A (p.Ala1354Thr) c.3946G>A (p.Ala1316Thr) c.2695G>A (p.Ala899Thr) n.524G>A c.366G>A n.142G>A n.2997G>A c.4015G>A (p.Ala1339Thr) c.3643G>A (p.Ala1215Thr) c.4006G>A (p.Ala1336Thr) c.3307G>A (p.Ala1103Thr) c.4054G>A (p.Ala1352Thr)	dbSNP
16	g.3740473T>A	CA394565353	CREBBP	c.4059A>T (p.Glu1353Asp) c.3945A>T (p.Glu1315Asp) c.2694A>T (p.Glu898Asp) n.523A>T c.365A>T n.141A>T n.2996A>T c.4014A>T (p.Glu1338Asp) c.3642A>T (p.Glu1214Asp) c.4005A>T (p.Glu1335Asp) c.3306A>T (p.Glu1102Asp) c.4053A>T (p.Glu1351Asp)	dbSNP
16	g.3740473T>C	CA493280385	CREBBP	c.4059A>G (p.Glu1353=) c.3945A>G (p.Glu1315=) c.2694A>G (p.Glu898=) n.523A>G c.365A>G n.141A>G n.2996A>G c.4014A>G (p.Glu1338=) c.3642A>G (p.Glu1214=) c.4005A>G (p.Glu1335=) c.3306A>G (p.Glu1102=) c.4053A>G (p.Glu1351=)	gnomAD v4
16	g.3740473T>G	CA394565354	CREBBP	c.4059A>C (p.Glu1353Asp) c.3945A>C (p.Glu1315Asp) c.2694A>C (p.Glu898Asp) n.523A>C c.365A>C n.141A>C n.2996A>C c.4014A>C (p.Glu1338Asp) c.3642A>C (p.Glu1214Asp) c.4005A>C (p.Glu1335Asp) c.3306A>C (p.Glu1102Asp) c.4053A>C (p.Glu1351Asp)
16	g.3740474T>A	CA394565355	CREBBP	c.4058A>T (p.Glu1353Val) c.3944A>T (p.Glu1315Val) c.2693A>T (p.Glu898Val) n.522A>T c.364A>T n.140A>T n.2995A>T c.4013A>T (p.Glu1338Val) c.3641A>T (p.Glu1214Val) c.4004A>T (p.Glu1335Val) c.3305A>T (p.Glu1102Val) c.4052A>T (p.Glu1351Val)	dbSNP
16	g.3740474T>C	CA394565356	CREBBP	c.4058A>G (p.Glu1353Gly) c.3944A>G (p.Glu1315Gly) c.2693A>G (p.Glu898Gly) n.522A>G c.364A>G n.140A>G n.2995A>G c.4013A>G (p.Glu1338Gly) c.3641A>G (p.Glu1214Gly) c.4004A>G (p.Glu1335Gly) c.3305A>G (p.Glu1102Gly) c.4052A>G (p.Glu1351Gly)	dbSNP
16	g.3740474T>G	CA394565357	CREBBP	c.4058A>C (p.Glu1353Ala) c.3944A>C (p.Glu1315Ala) c.2693A>C (p.Glu898Ala) n.522A>C c.364A>C n.140A>C n.2995A>C c.4013A>C (p.Glu1338Ala) c.3641A>C (p.Glu1214Ala) c.4004A>C (p.Glu1335Ala) c.3305A>C (p.Glu1102Ala) c.4052A>C (p.Glu1351Ala)	gnomAD v4
16	g.3740474_3740488delinsTCAGGGTGATTCTGG	CA2202940871	CREBBP	c.4044_4058delinsCCAGAATCACCCTGA (p.Arg1348=) c.3930_3944delinsCCAGAATCACCCTGA (p.Arg1310=) c.2679_2693delinsCCAGAATCACCCTGA (p.Arg893=) n.508_522delinsCCAGAATCACCCTGA c.350_364delinsCCAGAATCACCCTGA n.126_140delinsCCAGAATCACCCTGA n.2981_2995delinsCCAGAATCACCCTGA c.3999_4013delinsCCAGAATCACCCTGA (p.Arg1333=) c.3627_3641delinsCCAGAATCACCCTGA (p.Arg1209=) c.3990_4004delinsCCAGAATCACCCTGA (p.Arg1330=) c.3291_3305delinsCCAGAATCACCCTGA (p.Arg1097=) c.4038_4052delinsCCAGAATCACCCTGA (p.Arg1346=)
16	g.3740475C>A	CA394565358	CREBBP	c.4057G>T (p.Glu1353Ter) c.3943G>T (p.Glu1315Ter) c.2692G>T (p.Glu898Ter) n.521G>T c.363G>T n.139G>T n.2994G>T c.4012G>T (p.Glu1338Ter) c.3640G>T (p.Glu1214Ter) c.4003G>T (p.Glu1335Ter) c.3304G>T (p.Glu1102Ter) c.4051G>T (p.Glu1351Ter)	dbSNP
16	g.3740475C>G	CA394565359	CREBBP	c.4057G>C (p.Glu1353Gln) c.3943G>C (p.Glu1315Gln) c.2692G>C (p.Glu898Gln) n.521G>C c.363G>C n.139G>C n.2994G>C c.4012G>C (p.Glu1338Gln) c.3640G>C (p.Glu1214Gln) c.4003G>C (p.Glu1335Gln) c.3304G>C (p.Glu1102Gln) c.4051G>C (p.Glu1351Gln)	dbSNP
16	g.3740475C>T	CA394565360	CREBBP	c.4057G>A (p.Glu1353Lys) c.3943G>A (p.Glu1315Lys) c.2692G>A (p.Glu898Lys) n.521G>A c.363G>A n.139G>A n.2994G>A c.4012G>A (p.Glu1338Lys) c.3640G>A (p.Glu1214Lys) c.4003G>A (p.Glu1335Lys) c.3304G>A (p.Glu1102Lys) c.4051G>A (p.Glu1351Lys)	dbSNP
16	g.3740476_3740489del	CA658798531	CREBBP	c.4044_4057del (p.Gln1349SerfsTer?) c.3930_3943del (p.Gln1311SerfsTer?) c.2679_2692del (p.Gln894SerfsTer?) n.508_521del c.350_363del n.126_139del n.2981_2994del c.3999_4012del (p.Gln1334SerfsTer?) c.3627_3640del (p.Gln1210SerfsTer?) c.3990_4003del (p.Gln1331SerfsTer?) c.3291_3304del (p.Gln1098SerfsTer?) c.4038_4051del (p.Gln1347SerfsTer?)	ClinVar dbSNP
16	g.3740476A>C	CA493280386	CREBBP	c.4056T>G (p.Pro1352=) c.3942T>G (p.Pro1314=) c.2691T>G (p.Pro897=) n.520T>G c.362T>G n.138T>G n.2993T>G c.4011T>G (p.Pro1337=) c.3639T>G (p.Pro1213=) c.4002T>G (p.Pro1334=) c.3303T>G (p.Pro1101=) c.4050T>G (p.Pro1350=)	gnomAD v4
16	g.3740476A>G	CA493280388	CREBBP	c.4056T>C (p.Pro1352=) c.3942T>C (p.Pro1314=) c.2691T>C (p.Pro897=) n.520T>C c.362T>C n.138T>C n.2993T>C c.4011T>C (p.Pro1337=) c.3639T>C (p.Pro1213=) c.4002T>C (p.Pro1334=) c.3303T>C (p.Pro1101=) c.4050T>C (p.Pro1350=)	dbSNP gnomAD v4
16	g.3740476A>T	CA493280387	CREBBP	c.4056T>A (p.Pro1352=) c.3942T>A (p.Pro1314=) c.2691T>A (p.Pro897=) n.520T>A c.362T>A n.138T>A n.2993T>A c.4011T>A (p.Pro1337=) c.3639T>A (p.Pro1213=) c.4002T>A (p.Pro1334=) c.3303T>A (p.Pro1101=) c.4050T>A (p.Pro1350=)	dbSNP
16	g.3740477G>A	CA394565361	CREBBP	c.4055C>T (p.Pro1352Leu) c.3941C>T (p.Pro1314Leu) c.2690C>T (p.Pro897Leu) n.519C>T c.361C>T n.137C>T n.2992C>T c.4010C>T (p.Pro1337Leu) c.3638C>T (p.Pro1213Leu) c.4001C>T (p.Pro1334Leu) c.3302C>T (p.Pro1101Leu) c.4049C>T (p.Pro1350Leu)	dbSNP
16	g.3740477G>C	CA394565362	CREBBP	c.4055C>G (p.Pro1352Arg) c.3941C>G (p.Pro1314Arg) c.2690C>G (p.Pro897Arg) n.519C>G c.361C>G n.137C>G n.2992C>G c.4010C>G (p.Pro1337Arg) c.3638C>G (p.Pro1213Arg) c.4001C>G (p.Pro1334Arg) c.3302C>G (p.Pro1101Arg) c.4049C>G (p.Pro1350Arg)	dbSNP gnomAD v4
16	g.3740477G>T	CA394565363	CREBBP	c.4055C>A (p.Pro1352His) c.3941C>A (p.Pro1314His) c.2690C>A (p.Pro897His) n.519C>A c.361C>A n.137C>A n.2992C>A c.4010C>A (p.Pro1337His) c.3638C>A (p.Pro1213His) c.4001C>A (p.Pro1334His) c.3302C>A (p.Pro1101His) c.4049C>A (p.Pro1350His)	dbSNP gnomAD v4
16	g.3740478G>A	CA394565364	CREBBP	c.4054C>T (p.Pro1352Ser) c.3940C>T (p.Pro1314Ser) c.2689C>T (p.Pro897Ser) n.518C>T c.360C>T n.136C>T n.2991C>T c.4009C>T (p.Pro1337Ser) c.3637C>T (p.Pro1213Ser) c.4000C>T (p.Pro1334Ser) c.3301C>T (p.Pro1101Ser) c.4048C>T (p.Pro1350Ser)	dbSNP
16	g.3740478G>C	CA394565365	CREBBP	c.4054C>G (p.Pro1352Ala) c.3940C>G (p.Pro1314Ala) c.2689C>G (p.Pro897Ala) n.518C>G c.360C>G n.136C>G n.2991C>G c.4009C>G (p.Pro1337Ala) c.3637C>G (p.Pro1213Ala) c.4000C>G (p.Pro1334Ala) c.3301C>G (p.Pro1101Ala) c.4048C>G (p.Pro1350Ala)	dbSNP
16	g.3740478G>T	CA394565366	CREBBP	c.4054C>A (p.Pro1352Thr) c.3940C>A (p.Pro1314Thr) c.2689C>A (p.Pro897Thr) n.518C>A c.360C>A n.136C>A n.2991C>A c.4009C>A (p.Pro1337Thr) c.3637C>A (p.Pro1213Thr) c.4000C>A (p.Pro1334Thr) c.3301C>A (p.Pro1101Thr) c.4048C>A (p.Pro1350Thr)	dbSNP
16	g.3740478_3740479insCTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACG	CA2805633186	CREBBP	c.4054_4055insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1351_Pro1352insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3940_3941insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1313_Pro1314insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.2689_2690insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His896_Pro897insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) n.518_519insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC c.360_361insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC n.136_137insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC n.2991_2992insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC c.4009_4010insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1336_Pro1337insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3637_3638insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1212_Pro1213insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.4000_4001insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1333_Pro1334insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3301_3302insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1100_Pro1101insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.4048_4049insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1349_Pro1350insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
16	g.3740479G>A	CA493280389	CREBBP	c.4053C>T (p.His1351=) c.3939C>T (p.His1313=) c.2688C>T (p.His896=) n.517C>T c.359C>T n.135C>T n.2990C>T c.4008C>T (p.His1336=) c.3636C>T (p.His1212=) c.3999C>T (p.His1333=) c.3300C>T (p.His1100=) c.4047C>T (p.His1349=)	dbSNP gnomAD v4
16	g.3740479G>C	CA394565367	CREBBP	c.4053C>G (p.His1351Gln) c.3939C>G (p.His1313Gln) c.2688C>G (p.His896Gln) n.517C>G c.359C>G n.135C>G n.2990C>G c.4008C>G (p.His1336Gln) c.3636C>G (p.His1212Gln) c.3999C>G (p.His1333Gln) c.3300C>G (p.His1100Gln) c.4047C>G (p.His1349Gln)	dbSNP
16	g.3740479G>T	CA394565368	CREBBP	c.4053C>A (p.His1351Gln) c.3939C>A (p.His1313Gln) c.2688C>A (p.His896Gln) n.517C>A c.359C>A n.135C>A n.2990C>A c.4008C>A (p.His1336Gln) c.3636C>A (p.His1212Gln) c.3999C>A (p.His1333Gln) c.3300C>A (p.His1100Gln) c.4047C>A (p.His1349Gln)	dbSNP
16	g.3740480T>A	CA394565369	CREBBP	c.4052A>T (p.His1351Leu) c.3938A>T (p.His1313Leu) c.2687A>T (p.His896Leu) n.516A>T c.358A>T n.134A>T n.2989A>T c.4007A>T (p.His1336Leu) c.3635A>T (p.His1212Leu) c.3998A>T (p.His1333Leu) c.3299A>T (p.His1100Leu) c.4046A>T (p.His1349Leu)	dbSNP
16	g.3740480T>C	CA394565370	CREBBP	c.4052A>G (p.His1351Arg) c.3938A>G (p.His1313Arg) c.2687A>G (p.His896Arg) n.516A>G c.358A>G n.134A>G n.2989A>G c.4007A>G (p.His1336Arg) c.3635A>G (p.His1212Arg) c.3998A>G (p.His1333Arg) c.3299A>G (p.His1100Arg) c.4046A>G (p.His1349Arg)	ClinVar
16	g.3740480T>G	CA394565371	CREBBP	c.4052A>C (p.His1351Pro) c.3938A>C (p.His1313Pro) c.2687A>C (p.His896Pro) n.516A>C c.358A>C n.134A>C n.2989A>C c.4007A>C (p.His1336Pro) c.3635A>C (p.His1212Pro) c.3998A>C (p.His1333Pro) c.3299A>C (p.His1100Pro) c.4046A>C (p.His1349Pro)	dbSNP
16	g.3740480T=	CA2202940875	CREBBP	c.4052A= (p.His1351=) c.3938A= (p.His1313=) c.2687A= (p.His896=) n.516A= c.358A= n.134A= n.2989A= c.4007A= (p.His1336=) c.3635A= (p.His1212=) c.3998A= (p.His1333=) c.3299A= (p.His1100=) c.4046A= (p.His1349=)
16	g.3740481del	CA493280390	CREBBP	c.4051del (p.His1351ThrfsTer25) c.3937del (p.His1313ThrfsTer25) c.2686del (p.His896ThrfsTer25) n.515del c.357del n.133del n.2988del c.4006del (p.His1336ThrfsTer25) c.3634del (p.His1212ThrfsTer25) c.3997del (p.His1333ThrfsTer25) c.3298del (p.His1100ThrfsTer25) c.4045del (p.His1349ThrfsTer25)	COSMIC
16	g.3740481G>A	CA394565372	CREBBP	c.4051C>T (p.His1351Tyr) c.3937C>T (p.His1313Tyr) c.2686C>T (p.His896Tyr) n.515C>T c.357C>T n.133C>T n.2988C>T c.4006C>T (p.His1336Tyr) c.3634C>T (p.His1212Tyr) c.3997C>T (p.His1333Tyr) c.3298C>T (p.His1100Tyr) c.4045C>T (p.His1349Tyr)	dbSNP
16	g.3740481G>C	CA394565373	CREBBP	c.4051C>G (p.His1351Asp) c.3937C>G (p.His1313Asp) c.2686C>G (p.His896Asp) n.515C>G c.357C>G n.133C>G n.2988C>G c.4006C>G (p.His1336Asp) c.3634C>G (p.His1212Asp) c.3997C>G (p.His1333Asp) c.3298C>G (p.His1100Asp) c.4045C>G (p.His1349Asp)	dbSNP
16	g.3740481G>T	CA394565374	CREBBP	c.4051C>A (p.His1351Asn) c.3937C>A (p.His1313Asn) c.2686C>A (p.His896Asn) n.515C>A c.357C>A n.133C>A n.2988C>A c.4006C>A (p.His1336Asn) c.3634C>A (p.His1212Asn) c.3997C>A (p.His1333Asn) c.3298C>A (p.His1100Asn) c.4045C>A (p.His1349Asn)
16	g.3740482A=	CA2202940877	CREBBP	c.4050T= (p.Asn1350=) c.3936T= (p.Asn1312=) c.2685T= (p.Asn895=) n.514T= c.356T= n.132T= n.2987T= c.4005T= (p.Asn1335=) c.3633T= (p.Asn1211=) c.3996T= (p.Asn1332=) c.3297T= (p.Asn1099=) c.4044T= (p.Asn1348=)
16	g.3740482A>C	CA394565375	CREBBP	c.4050T>G (p.Asn1350Lys) c.3936T>G (p.Asn1312Lys) c.2685T>G (p.Asn895Lys) n.514T>G c.356T>G n.132T>G n.2987T>G c.4005T>G (p.Asn1335Lys) c.3633T>G (p.Asn1211Lys) c.3996T>G (p.Asn1332Lys) c.3297T>G (p.Asn1099Lys) c.4044T>G (p.Asn1348Lys)	dbSNP
16	g.3740482A>G	CA493280391	CREBBP	c.4050T>C (p.Asn1350=) c.3936T>C (p.Asn1312=) c.2685T>C (p.Asn895=) n.514T>C c.356T>C n.132T>C n.2987T>C c.4005T>C (p.Asn1335=) c.3633T>C (p.Asn1211=) c.3996T>C (p.Asn1332=) c.3297T>C (p.Asn1099=) c.4044T>C (p.Asn1348=)	dbSNP
16	g.3740482A>T	CA394565376	CREBBP	c.4050T>A (p.Asn1350Lys) c.3936T>A (p.Asn1312Lys) c.2685T>A (p.Asn895Lys) n.514T>A c.356T>A n.132T>A n.2987T>A c.4005T>A (p.Asn1335Lys) c.3633T>A (p.Asn1211Lys) c.3996T>A (p.Asn1332Lys) c.3297T>A (p.Asn1099Lys) c.4044T>A (p.Asn1348Lys)	ClinVar dbSNP
16	g.3740483T>A	CA394565377	CREBBP	c.4049A>T (p.Asn1350Ile) c.3935A>T (p.Asn1312Ile) c.2684A>T (p.Asn895Ile) n.513A>T c.355A>T n.131A>T n.2986A>T c.4004A>T (p.Asn1335Ile) c.3632A>T (p.Asn1211Ile) c.3995A>T (p.Asn1332Ile) c.3296A>T (p.Asn1099Ile) c.4043A>T (p.Asn1348Ile)	dbSNP
16	g.3740483T>C	CA394565378	CREBBP	c.4049A>G (p.Asn1350Ser) c.3935A>G (p.Asn1312Ser) c.2684A>G (p.Asn895Ser) n.513A>G c.355A>G n.131A>G n.2986A>G c.4004A>G (p.Asn1335Ser) c.3632A>G (p.Asn1211Ser) c.3995A>G (p.Asn1332Ser) c.3296A>G (p.Asn1099Ser) c.4043A>G (p.Asn1348Ser)
16	g.3740483T>G	CA394565379	CREBBP	c.4049A>C (p.Asn1350Thr) c.3935A>C (p.Asn1312Thr) c.2684A>C (p.Asn895Thr) n.513A>C c.355A>C n.131A>C n.2986A>C c.4004A>C (p.Asn1335Thr) c.3632A>C (p.Asn1211Thr) c.3995A>C (p.Asn1332Thr) c.3296A>C (p.Asn1099Thr) c.4043A>C (p.Asn1348Thr)	dbSNP
16	g.3740484T>A	CA394565382	CREBBP	c.4048A>T (p.Asn1350Tyr) c.3934A>T (p.Asn1312Tyr) c.2683A>T (p.Asn895Tyr) n.512A>T c.354A>T n.130A>T n.2985A>T c.4003A>T (p.Asn1335Tyr) c.3631A>T (p.Asn1211Tyr) c.3994A>T (p.Asn1332Tyr) c.3295A>T (p.Asn1099Tyr) c.4042A>T (p.Asn1348Tyr)	dbSNP
16	g.3740484T>C	CA394565381	CREBBP	c.4048A>G (p.Asn1350Asp) c.3934A>G (p.Asn1312Asp) c.2683A>G (p.Asn895Asp) n.512A>G c.354A>G n.130A>G n.2985A>G c.4003A>G (p.Asn1335Asp) c.3631A>G (p.Asn1211Asp) c.3994A>G (p.Asn1332Asp) c.3295A>G (p.Asn1099Asp) c.4042A>G (p.Asn1348Asp)	dbSNP
16	g.3740484T>G	CA394565380	CREBBP	c.4048A>C (p.Asn1350His) c.3934A>C (p.Asn1312His) c.2683A>C (p.Asn895His) n.512A>C c.354A>C n.130A>C n.2985A>C c.4003A>C (p.Asn1335His) c.3631A>C (p.Asn1211His) c.3994A>C (p.Asn1332His) c.3295A>C (p.Asn1099His) c.4042A>C (p.Asn1348His)	dbSNP
16	g.3740485C>A	CA394565383	CREBBP	c.4047G>T (p.Gln1349His) c.3933G>T (p.Gln1311His) c.2682G>T (p.Gln894His) n.511G>T c.353G>T n.129G>T n.2984G>T c.4002G>T (p.Gln1334His) c.3630G>T (p.Gln1210His) c.3993G>T (p.Gln1331His) c.3294G>T (p.Gln1098His) c.4041G>T (p.Gln1347His)	dbSNP
16	g.3740485C>G	CA394565384	CREBBP	c.4047G>C (p.Gln1349His) c.3933G>C (p.Gln1311His) c.2682G>C (p.Gln894His) n.511G>C c.353G>C n.129G>C n.2984G>C c.4002G>C (p.Gln1334His) c.3630G>C (p.Gln1210His) c.3993G>C (p.Gln1331His) c.3294G>C (p.Gln1098His) c.4041G>C (p.Gln1347His)	dbSNP gnomAD v4
16	g.3740485C>T	CA493280392	CREBBP	c.4047G>A (p.Gln1349=) c.3933G>A (p.Gln1311=) c.2682G>A (p.Gln894=) n.511G>A c.353G>A n.129G>A n.2984G>A c.4002G>A (p.Gln1334=) c.3630G>A (p.Gln1210=) c.3993G>A (p.Gln1331=) c.3294G>A (p.Gln1098=) c.4041G>A (p.Gln1347=)	dbSNP
16	g.3740486T>A	CA394565385	CREBBP	c.4046A>T (p.Gln1349Leu) c.3932A>T (p.Gln1311Leu) c.2681A>T (p.Gln894Leu) n.510A>T c.352A>T n.128A>T n.2983A>T c.4001A>T (p.Gln1334Leu) c.3629A>T (p.Gln1210Leu) c.3992A>T (p.Gln1331Leu) c.3293A>T (p.Gln1098Leu) c.4040A>T (p.Gln1347Leu)
16	g.3740486T>C	CA394565387	CREBBP	c.4046A>G (p.Gln1349Arg) c.3932A>G (p.Gln1311Arg) c.2681A>G (p.Gln894Arg) n.510A>G c.352A>G n.128A>G n.2983A>G c.4001A>G (p.Gln1334Arg) c.3629A>G (p.Gln1210Arg) c.3992A>G (p.Gln1331Arg) c.3293A>G (p.Gln1098Arg) c.4040A>G (p.Gln1347Arg)
16	g.3740486T>G	CA394565386	CREBBP	c.4046A>C (p.Gln1349Pro) c.3932A>C (p.Gln1311Pro) c.2681A>C (p.Gln894Pro) n.510A>C c.352A>C n.128A>C n.2983A>C c.4001A>C (p.Gln1334Pro) c.3629A>C (p.Gln1210Pro) c.3992A>C (p.Gln1331Pro) c.3293A>C (p.Gln1098Pro) c.4040A>C (p.Gln1347Pro)
16	g.3740487G>A	CA271403	CREBBP	c.4045C>T (p.Gln1349Ter) c.3931C>T (p.Gln1311Ter) c.2680C>T (p.Gln894Ter) n.509C>T c.351C>T n.127C>T n.2982C>T c.4000C>T (p.Gln1334Ter) c.3628C>T (p.Gln1210Ter) c.3991C>T (p.Gln1331Ter) c.3292C>T (p.Gln1098Ter) c.4039C>T (p.Gln1347Ter)	ClinVar dbSNP
16	g.3740487G>C	CA394565388	CREBBP	c.4045C>G (p.Gln1349Glu) c.3931C>G (p.Gln1311Glu) c.2680C>G (p.Gln894Glu) n.509C>G c.351C>G n.127C>G n.2982C>G c.4000C>G (p.Gln1334Glu) c.3628C>G (p.Gln1210Glu) c.3991C>G (p.Gln1331Glu) c.3292C>G (p.Gln1098Glu) c.4039C>G (p.Gln1347Glu)	dbSNP
16	g.3740487G=	CA2202940883	CREBBP	c.4045C= (p.Gln1349=) c.3931C= (p.Gln1311=) c.2680C= (p.Gln894=) n.509C= c.351C= n.127C= n.2982C= c.4000C= (p.Gln1334=) c.3628C= (p.Gln1210=) c.3991C= (p.Gln1331=) c.3292C= (p.Gln1098=) c.4039C= (p.Gln1347=)
16	g.3740487G>T	CA394565389	CREBBP	c.4045C>A (p.Gln1349Lys) c.3931C>A (p.Gln1311Lys) c.2680C>A (p.Gln894Lys) n.509C>A c.351C>A n.127C>A n.2982C>A c.4000C>A (p.Gln1334Lys) c.3628C>A (p.Gln1210Lys) c.3991C>A (p.Gln1331Lys) c.3292C>A (p.Gln1098Lys) c.4039C>A (p.Gln1347Lys)	dbSNP
16	g.3740488G>A	CA493280393	CREBBP	c.4044C>T (p.Arg1348=) c.3930C>T (p.Arg1310=) c.2679C>T (p.Arg893=) n.508C>T c.350C>T n.126C>T n.2981C>T c.3999C>T (p.Arg1333=) c.3627C>T (p.Arg1209=) c.3990C>T (p.Arg1330=) c.3291C>T (p.Arg1097=) c.4038C>T (p.Arg1346=)	gnomAD v4
16	g.3740488G>C	CA493280394	CREBBP	c.4044C>G (p.Arg1348=) c.3930C>G (p.Arg1310=) c.2679C>G (p.Arg893=) n.508C>G c.350C>G n.126C>G n.2981C>G c.3999C>G (p.Arg1333=) c.3627C>G (p.Arg1209=) c.3990C>G (p.Arg1330=) c.3291C>G (p.Arg1097=) c.4038C>G (p.Arg1346=)	gnomAD v4
16	g.3740488G>T	CA493280395	CREBBP	c.4044C>A (p.Arg1348=) c.3930C>A (p.Arg1310=) c.2679C>A (p.Arg893=) n.508C>A c.350C>A n.126C>A n.2981C>A c.3999C>A (p.Arg1333=) c.3627C>A (p.Arg1209=) c.3990C>A (p.Arg1330=) c.3291C>A (p.Arg1097=) c.4038C>A (p.Arg1346=)	dbSNP
16	g.3740489C>A	CA394565390	CREBBP	c.4043G>T (p.Arg1348Leu) c.3929G>T (p.Arg1310Leu) c.2678G>T (p.Arg893Leu) n.507G>T c.349G>T n.125G>T n.2980G>T c.3998G>T (p.Arg1333Leu) c.3626G>T (p.Arg1209Leu) c.3989G>T (p.Arg1330Leu) c.3290G>T (p.Arg1097Leu) c.4037G>T (p.Arg1346Leu)	dbSNP gnomAD v4
16	g.3740489C=	CA2202940885	CREBBP	c.4043G= (p.Arg1348=) c.3929G= (p.Arg1310=) c.2678G= (p.Arg893=) n.507G= c.349G= n.125G= n.2980G= c.3998G= (p.Arg1333=) c.3626G= (p.Arg1209=) c.3989G= (p.Arg1330=) c.3290G= (p.Arg1097=) c.4037G= (p.Arg1346=)
16	g.3740489C>G	CA394565391	CREBBP	c.4043G>C (p.Arg1348Pro) c.3929G>C (p.Arg1310Pro) c.2678G>C (p.Arg893Pro) n.507G>C c.349G>C n.125G>C n.2980G>C c.3998G>C (p.Arg1333Pro) c.3626G>C (p.Arg1209Pro) c.3989G>C (p.Arg1330Pro) c.3290G>C (p.Arg1097Pro) c.4037G>C (p.Arg1346Pro)	dbSNP
16	g.3740489C>T	CA394565392	CREBBP	c.4043G>A (p.Arg1348His) c.3929G>A (p.Arg1310His) c.2678G>A (p.Arg893His) n.507G>A c.349G>A n.125G>A n.2980G>A c.3998G>A (p.Arg1333His) c.3626G>A (p.Arg1209His) c.3989G>A (p.Arg1330His) c.3290G>A (p.Arg1097His) c.4037G>A (p.Arg1346His)	ClinVar dbSNP gnomAD v2
16	g.3740490G>A	CA394565393	CREBBP	c.4042C>T (p.Arg1348Cys) c.3928C>T (p.Arg1310Cys) c.2677C>T (p.Arg893Cys) n.506C>T c.348C>T n.124C>T n.2979C>T c.3997C>T (p.Arg1333Cys) c.3625C>T (p.Arg1209Cys) c.3988C>T (p.Arg1330Cys) c.3289C>T (p.Arg1097Cys) c.4036C>T (p.Arg1346Cys)	dbSNP
16	g.3740490G>C	CA394565394	CREBBP	c.4042C>G (p.Arg1348Gly) c.3928C>G (p.Arg1310Gly) c.2677C>G (p.Arg893Gly) n.506C>G c.348C>G n.124C>G n.2979C>G c.3997C>G (p.Arg1333Gly) c.3625C>G (p.Arg1209Gly) c.3988C>G (p.Arg1330Gly) c.3289C>G (p.Arg1097Gly) c.4036C>G (p.Arg1346Gly)	dbSNP
16	g.3740490G=	CA2202940887	CREBBP	c.4042C= (p.Arg1348=) c.3928C= (p.Arg1310=) c.2677C= (p.Arg893=) n.506C= c.348C= n.124C= n.2979C= c.3997C= (p.Arg1333=) c.3625C= (p.Arg1209=) c.3988C= (p.Arg1330=) c.3289C= (p.Arg1097=) c.4036C= (p.Arg1346=)
16	g.3740490G>T	CA394565395	CREBBP	c.4042C>A (p.Arg1348Ser) c.3928C>A (p.Arg1310Ser) c.2677C>A (p.Arg893Ser) n.506C>A c.348C>A n.124C>A n.2979C>A c.3997C>A (p.Arg1333Ser) c.3625C>A (p.Arg1209Ser) c.3988C>A (p.Arg1330Ser) c.3289C>A (p.Arg1097Ser) c.4036C>A (p.Arg1346Ser)	dbSNP
16	g.3740491C>A	CA493280396	CREBBP	c.4041G>T (p.Arg1347=) c.3927G>T (p.Arg1309=) c.2676G>T (p.Arg892=) n.505G>T c.347G>T n.123G>T n.2978G>T c.3996G>T (p.Arg1332=) c.3624G>T (p.Arg1208=) c.3987G>T (p.Arg1329=) c.3288G>T (p.Arg1096=) c.4035G>T (p.Arg1345=)	dbSNP
16	g.3740491C=	CA2202940889	CREBBP	c.4041G= (p.Arg1347=) c.3927G= (p.Arg1309=) c.2676G= (p.Arg892=) n.505G= c.347G= n.123G= n.2978G= c.3996G= (p.Arg1332=) c.3624G= (p.Arg1208=) c.3987G= (p.Arg1329=) c.3288G= (p.Arg1096=) c.4035G= (p.Arg1345=)
16	g.3740491C>G	CA493280397	CREBBP	c.4041G>C (p.Arg1347=) c.3927G>C (p.Arg1309=) c.2676G>C (p.Arg892=) n.505G>C c.347G>C n.123G>C n.2978G>C c.3996G>C (p.Arg1332=) c.3624G>C (p.Arg1208=) c.3987G>C (p.Arg1329=) c.3288G>C (p.Arg1096=) c.4035G>C (p.Arg1345=)	dbSNP
16	g.3740491C>T	CA493280398	CREBBP	c.4041G>A (p.Arg1347=) c.3927G>A (p.Arg1309=) c.2676G>A (p.Arg892=) n.505G>A c.347G>A n.123G>A n.2978G>A c.3996G>A (p.Arg1332=) c.3624G>A (p.Arg1208=) c.3987G>A (p.Arg1329=) c.3288G>A (p.Arg1096=) c.4035G>A (p.Arg1345=)	dbSNP
16	g.3740492C>A	CA394565396	CREBBP	c.4040G>T (p.Arg1347Leu) c.3926G>T (p.Arg1309Leu) c.2675G>T (p.Arg892Leu) n.504G>T c.346G>T n.122G>T n.2977G>T c.3995G>T (p.Arg1332Leu) c.3623G>T (p.Arg1208Leu) c.3986G>T (p.Arg1329Leu) c.3287G>T (p.Arg1096Leu) c.4034G>T (p.Arg1345Leu)	dbSNP
16	g.3740492C=	CA2202940893	CREBBP	c.4040G= (p.Arg1347=) c.3926G= (p.Arg1309=) c.2675G= (p.Arg892=) n.504G= c.346G= n.122G= n.2977G= c.3995G= (p.Arg1332=) c.3623G= (p.Arg1208=) c.3986G= (p.Arg1329=) c.3287G= (p.Arg1096=) c.4034G= (p.Arg1345=)
16	g.3740492C>G	CA394565397	CREBBP	c.4040G>C (p.Arg1347Pro) c.3926G>C (p.Arg1309Pro) c.2675G>C (p.Arg892Pro) n.504G>C c.346G>C n.122G>C n.2977G>C c.3995G>C (p.Arg1332Pro) c.3623G>C (p.Arg1208Pro) c.3986G>C (p.Arg1329Pro) c.3287G>C (p.Arg1096Pro) c.4034G>C (p.Arg1345Pro)	ClinVar dbSNP
16	g.3740492C>T	CA394565398	CREBBP	c.4040G>A (p.Arg1347Gln) c.3926G>A (p.Arg1309Gln) c.2675G>A (p.Arg892Gln) n.504G>A c.346G>A n.122G>A n.2977G>A c.3995G>A (p.Arg1332Gln) c.3623G>A (p.Arg1208Gln) c.3986G>A (p.Arg1329Gln) c.3287G>A (p.Arg1096Gln) c.4034G>A (p.Arg1345Gln)	dbSNP gnomAD v4
16	g.3740493G>A	CA276983219	CREBBP	c.4039C>T (p.Arg1347Trp) c.3925C>T (p.Arg1309Trp) c.2674C>T (p.Arg892Trp) n.503C>T c.345C>T n.121C>T n.2976C>T c.3994C>T (p.Arg1332Trp) c.3622C>T (p.Arg1208Trp) c.3985C>T (p.Arg1329Trp) c.3286C>T (p.Arg1096Trp) c.4033C>T (p.Arg1345Trp)	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.3740493G>C	CA394565399	CREBBP	c.4039C>G (p.Arg1347Gly) c.3925C>G (p.Arg1309Gly) c.2674C>G (p.Arg892Gly) n.503C>G c.345C>G n.121C>G n.2976C>G c.3994C>G (p.Arg1332Gly) c.3622C>G (p.Arg1208Gly) c.3985C>G (p.Arg1329Gly) c.3286C>G (p.Arg1096Gly) c.4033C>G (p.Arg1345Gly)	dbSNP
16	g.3740493G=	CA2202940897	CREBBP	c.4039C= (p.Arg1347=) c.3925C= (p.Arg1309=) c.2674C= (p.Arg892=) n.503C= c.345C= n.121C= n.2976C= c.3994C= (p.Arg1332=) c.3622C= (p.Arg1208=) c.3985C= (p.Arg1329=) c.3286C= (p.Arg1096=) c.4033C= (p.Arg1345=)
16	g.3740493G>T	CA493280399	CREBBP	c.4039C>A (p.Arg1347=) c.3925C>A (p.Arg1309=) c.2674C>A (p.Arg892=) n.503C>A c.345C>A n.121C>A n.2976C>A c.3994C>A (p.Arg1332=) c.3622C>A (p.Arg1208=) c.3985C>A (p.Arg1329=) c.3286C>A (p.Arg1096=) c.4033C>A (p.Arg1345=)	gnomAD v4
16	g.3740494C>A	CA394565400	CREBBP	c.4038G>T (p.Leu1346Phe) c.3924G>T (p.Leu1308Phe) c.2673G>T (p.Leu891Phe) n.502G>T c.344G>T n.120G>T n.2975G>T c.3993G>T (p.Leu1331Phe) c.3621G>T (p.Leu1207Phe) c.3984G>T (p.Leu1328Phe) c.3285G>T (p.Leu1095Phe) c.4032G>T (p.Leu1344Phe)
16	g.3740494C>G	CA394565401	CREBBP	c.4038G>C (p.Leu1346Phe) c.3924G>C (p.Leu1308Phe) c.2673G>C (p.Leu891Phe) n.502G>C c.344G>C n.120G>C n.2975G>C c.3993G>C (p.Leu1331Phe) c.3621G>C (p.Leu1207Phe) c.3984G>C (p.Leu1328Phe) c.3285G>C (p.Leu1095Phe) c.4032G>C (p.Leu1344Phe)
16	g.3740494C>T	CA493280400	CREBBP	c.4038G>A (p.Leu1346=) c.3924G>A (p.Leu1308=) c.2673G>A (p.Leu891=) n.502G>A c.344G>A n.120G>A n.2975G>A c.3993G>A (p.Leu1331=) c.3621G>A (p.Leu1207=) c.3984G>A (p.Leu1328=) c.3285G>A (p.Leu1095=) c.4032G>A (p.Leu1344=)	gnomAD v4
16	g.3740495A>C	CA394565402	CREBBP	c.4037T>G (p.Leu1346Trp) c.3923T>G (p.Leu1308Trp) c.2672T>G (p.Leu891Trp) n.501T>G c.343T>G n.119T>G n.2974T>G c.3992T>G (p.Leu1331Trp) c.3620T>G (p.Leu1207Trp) c.3983T>G (p.Leu1328Trp) c.3284T>G (p.Leu1095Trp) c.4031T>G (p.Leu1344Trp)	dbSNP
16	g.3740495A>G	CA394565403	CREBBP	c.4037T>C (p.Leu1346Ser) c.3923T>C (p.Leu1308Ser) c.2672T>C (p.Leu891Ser) n.501T>C c.343T>C n.119T>C n.2974T>C c.3992T>C (p.Leu1331Ser) c.3620T>C (p.Leu1207Ser) c.3983T>C (p.Leu1328Ser) c.3284T>C (p.Leu1095Ser) c.4031T>C (p.Leu1344Ser)
16	g.3740495A>T	CA394565404	CREBBP	c.4037T>A (p.Leu1346Ter) c.3923T>A (p.Leu1308Ter) c.2672T>A (p.Leu891Ter) n.501T>A c.343T>A n.119T>A n.2974T>A c.3992T>A (p.Leu1331Ter) c.3620T>A (p.Leu1207Ter) c.3983T>A (p.Leu1328Ter) c.3284T>A (p.Leu1095Ter) c.4031T>A (p.Leu1344Ter)	dbSNP
16	g.3740496A=	CA2202940900	CREBBP	c.4036T= (p.Leu1346=) c.3922T= (p.Leu1308=) c.2671T= (p.Leu891=) n.500T= c.342T= n.118T= n.2973T= c.3991T= (p.Leu1331=) c.3619T= (p.Leu1207=) c.3982T= (p.Leu1328=) c.3283T= (p.Leu1095=) c.4030T= (p.Leu1344=)
16	g.3740496A>C	CA394565405	CREBBP	c.4036T>G (p.Leu1346Val) c.3922T>G (p.Leu1308Val) c.2671T>G (p.Leu891Val) n.500T>G c.342T>G n.118T>G n.2973T>G c.3991T>G (p.Leu1331Val) c.3619T>G (p.Leu1207Val) c.3982T>G (p.Leu1328Val) c.3283T>G (p.Leu1095Val) c.4030T>G (p.Leu1344Val)
16	g.3740496A>G	CA7869628	CREBBP	c.4036T>C (p.Leu1346=) c.3922T>C (p.Leu1308=) c.2671T>C (p.Leu891=) n.500T>C c.342T>C n.118T>C n.2973T>C c.3991T>C (p.Leu1331=) c.3619T>C (p.Leu1207=) c.3982T>C (p.Leu1328=) c.3283T>C (p.Leu1095=) c.4030T>C (p.Leu1344=)	dbSNP ExAC gnomAD v2
16	g.3740496A>T	CA394565406	CREBBP	c.4036T>A (p.Leu1346Met) c.3922T>A (p.Leu1308Met) c.2671T>A (p.Leu891Met) n.500T>A c.342T>A n.118T>A n.2973T>A c.3991T>A (p.Leu1331Met) c.3619T>A (p.Leu1207Met) c.3982T>A (p.Leu1328Met) c.3283T>A (p.Leu1095Met) c.4030T>A (p.Leu1344Met)	dbSNP
16	g.3740497A>C	CA394565407	CREBBP	c.4035T>G (p.Phe1345Leu) c.3921T>G (p.Phe1307Leu) c.2670T>G (p.Phe890Leu) n.499T>G c.341T>G n.117T>G n.2972T>G c.3990T>G (p.Phe1330Leu) c.3618T>G (p.Phe1206Leu) c.3981T>G (p.Phe1327Leu) c.3282T>G (p.Phe1094Leu) c.4029T>G (p.Phe1343Leu)
16	g.3740497A>G	CA493280401	CREBBP	c.4035T>C (p.Phe1345=) c.3921T>C (p.Phe1307=) c.2670T>C (p.Phe890=) n.499T>C c.341T>C n.117T>C n.2972T>C c.3990T>C (p.Phe1330=) c.3618T>C (p.Phe1206=) c.3981T>C (p.Phe1327=) c.3282T>C (p.Phe1094=) c.4029T>C (p.Phe1343=)	dbSNP gnomAD v4
16	g.3740497A>T	CA394565408	CREBBP	c.4035T>A (p.Phe1345Leu) c.3921T>A (p.Phe1307Leu) c.2670T>A (p.Phe890Leu) n.499T>A c.341T>A n.117T>A n.2972T>A c.3990T>A (p.Phe1330Leu) c.3618T>A (p.Phe1206Leu) c.3981T>A (p.Phe1327Leu) c.3282T>A (p.Phe1094Leu) c.4029T>A (p.Phe1343Leu)	dbSNP
16	g.3740498A>C	CA394565409	CREBBP	c.4034T>G (p.Phe1345Cys) c.3920T>G (p.Phe1307Cys) c.2669T>G (p.Phe890Cys) n.498T>G c.340T>G n.116T>G n.2971T>G c.3989T>G (p.Phe1330Cys) c.3617T>G (p.Phe1206Cys) c.3980T>G (p.Phe1327Cys) c.3281T>G (p.Phe1094Cys) c.4028T>G (p.Phe1343Cys)	dbSNP COSMIC
16	g.3740498A>G	CA394565410	CREBBP	c.4034T>C (p.Phe1345Ser) c.3920T>C (p.Phe1307Ser) c.2669T>C (p.Phe890Ser) n.498T>C c.340T>C n.116T>C n.2971T>C c.3989T>C (p.Phe1330Ser) c.3617T>C (p.Phe1206Ser) c.3980T>C (p.Phe1327Ser) c.3281T>C (p.Phe1094Ser) c.4028T>C (p.Phe1343Ser)
16	g.3740498A>T	CA394565411	CREBBP	c.4034T>A (p.Phe1345Tyr) c.3920T>A (p.Phe1307Tyr) c.2669T>A (p.Phe890Tyr) n.498T>A c.340T>A n.116T>A n.2971T>A c.3989T>A (p.Phe1330Tyr) c.3617T>A (p.Phe1206Tyr) c.3980T>A (p.Phe1327Tyr) c.3281T>A (p.Phe1094Tyr) c.4028T>A (p.Phe1343Tyr)	dbSNP
16	g.3740499A>C	CA394565412	CREBBP	c.4033T>G (p.Phe1345Val) c.3919T>G (p.Phe1307Val) c.2668T>G (p.Phe890Val) n.497T>G c.339T>G n.115T>G n.2970T>G c.3988T>G (p.Phe1330Val) c.3616T>G (p.Phe1206Val) c.3979T>G (p.Phe1327Val) c.3280T>G (p.Phe1094Val) c.4027T>G (p.Phe1343Val)	dbSNP
16	g.3740499A>G	CA394565414	CREBBP	c.4033T>C (p.Phe1345Leu) c.3919T>C (p.Phe1307Leu) c.2668T>C (p.Phe890Leu) n.497T>C c.339T>C n.115T>C n.2970T>C c.3988T>C (p.Phe1330Leu) c.3616T>C (p.Phe1206Leu) c.3979T>C (p.Phe1327Leu) c.3280T>C (p.Phe1094Leu) c.4027T>C (p.Phe1343Leu)	dbSNP
16	g.3740499A>T	CA394565413	CREBBP	c.4033T>A (p.Phe1345Ile) c.3919T>A (p.Phe1307Ile) c.2668T>A (p.Phe890Ile) n.497T>A c.339T>A n.115T>A n.2970T>A c.3988T>A (p.Phe1330Ile) c.3616T>A (p.Phe1206Ile) c.3979T>A (p.Phe1327Ile) c.3280T>A (p.Phe1094Ile) c.4027T>A (p.Phe1343Ile)	dbSNP
16	g.3740500T>A	CA394565415	CREBBP	c.4032A>T (p.Lys1344Asn) c.3918A>T (p.Lys1306Asn) c.2667A>T (p.Lys889Asn) n.496A>T c.338A>T n.114A>T n.2969A>T c.3987A>T (p.Lys1329Asn) c.3615A>T (p.Lys1205Asn) c.3978A>T (p.Lys1326Asn) c.3279A>T (p.Lys1093Asn) c.4026A>T (p.Lys1342Asn)	dbSNP
16	g.3740500T>C	CA493280402	CREBBP	c.4032A>G (p.Lys1344=) c.3918A>G (p.Lys1306=) c.2667A>G (p.Lys889=) n.496A>G c.338A>G n.114A>G n.2969A>G c.3987A>G (p.Lys1329=) c.3615A>G (p.Lys1205=) c.3978A>G (p.Lys1326=) c.3279A>G (p.Lys1093=) c.4026A>G (p.Lys1342=)
16	g.3740500T>G	CA394565416	CREBBP	c.4032A>C (p.Lys1344Asn) c.3918A>C (p.Lys1306Asn) c.2667A>C (p.Lys889Asn) n.496A>C c.338A>C n.114A>C n.2969A>C c.3987A>C (p.Lys1329Asn) c.3615A>C (p.Lys1205Asn) c.3978A>C (p.Lys1326Asn) c.3279A>C (p.Lys1093Asn) c.4026A>C (p.Lys1342Asn)	dbSNP
16	g.3740501T>A	CA394565417	CREBBP	c.4031A>T (p.Lys1344Ile) c.3917A>T (p.Lys1306Ile) c.2666A>T (p.Lys889Ile) n.495A>T c.337A>T n.113A>T n.2968A>T c.3986A>T (p.Lys1329Ile) c.3614A>T (p.Lys1205Ile) c.3977A>T (p.Lys1326Ile) c.3278A>T (p.Lys1093Ile) c.4025A>T (p.Lys1342Ile)
16	g.3740501T>C	CA394565418	CREBBP	c.4031A>G (p.Lys1344Arg) c.3917A>G (p.Lys1306Arg) c.2666A>G (p.Lys889Arg) n.495A>G c.337A>G n.113A>G n.2968A>G c.3986A>G (p.Lys1329Arg) c.3614A>G (p.Lys1205Arg) c.3977A>G (p.Lys1326Arg) c.3278A>G (p.Lys1093Arg) c.4025A>G (p.Lys1342Arg)
16	g.3740501T>G	CA394565419	CREBBP	c.4031A>C (p.Lys1344Thr) c.3917A>C (p.Lys1306Thr) c.2666A>C (p.Lys889Thr) n.495A>C c.337A>C n.113A>C n.2968A>C c.3986A>C (p.Lys1329Thr) c.3614A>C (p.Lys1205Thr) c.3977A>C (p.Lys1326Thr) c.3278A>C (p.Lys1093Thr) c.4025A>C (p.Lys1342Thr)
16	g.3740502T>A	CA394565420	CREBBP	c.4030A>T (p.Lys1344Ter) c.3916A>T (p.Lys1306Ter) c.2665A>T (p.Lys889Ter) n.494A>T c.336A>T n.112A>T n.2967A>T c.3985A>T (p.Lys1329Ter) c.3613A>T (p.Lys1205Ter) c.3976A>T (p.Lys1326Ter) c.3277A>T (p.Lys1093Ter) c.4024A>T (p.Lys1342Ter)	dbSNP
16	g.3740502T>C	CA394565421	CREBBP	c.4030A>G (p.Lys1344Glu) c.3916A>G (p.Lys1306Glu) c.2665A>G (p.Lys889Glu) n.494A>G c.336A>G n.112A>G n.2967A>G c.3985A>G (p.Lys1329Glu) c.3613A>G (p.Lys1205Glu) c.3976A>G (p.Lys1326Glu) c.3277A>G (p.Lys1093Glu) c.4024A>G (p.Lys1342Glu)
16	g.3740502T>G	CA394565422	CREBBP	c.4030A>C (p.Lys1344Gln) c.3916A>C (p.Lys1306Gln) c.2665A>C (p.Lys889Gln) n.494A>C c.336A>C n.112A>C n.2967A>C c.3985A>C (p.Lys1329Gln) c.3613A>C (p.Lys1205Gln) c.3976A>C (p.Lys1326Gln) c.3277A>C (p.Lys1093Gln) c.4024A>C (p.Lys1342Gln)	dbSNP

Number of alleles fetched