Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3736709_3736711delCA645575175CREBBPc.4501_4503del (p.Glu1501del)
c.4387_4389del (p.Glu1463del)
c.3136_3138del (p.Glu1046del)
n.291_293del
n.322_324del
n.3324_3326del
c.4456_4458del (p.Glu1486del)
c.4084_4086del (p.Glu1362del)
c.4240_4242del (p.Glu1414del)
c.4447_4449del (p.Glu1483del)
c.3748_3750del (p.Glu1250del)
c.4495_4497del (p.Glu1499del)
COSMIC
16g.3736708T>ACA394563584CREBBPc.4502A>T (p.Glu1501Val)
c.4388A>T (p.Glu1463Val)
c.3137A>T (p.Glu1046Val)
n.292A>T
n.323A>T
n.3325A>T
c.4457A>T (p.Glu1486Val)
c.4085A>T (p.Glu1362Val)
c.4241A>T (p.Glu1414Val)
c.4448A>T (p.Glu1483Val)
c.3749A>T (p.Glu1250Val)
c.4496A>T (p.Glu1499Val)
16g.3736708T>CCA394563586CREBBPc.4502A>G (p.Glu1501Gly)
c.4388A>G (p.Glu1463Gly)
c.3137A>G (p.Glu1046Gly)
n.292A>G
n.323A>G
n.3325A>G
c.4457A>G (p.Glu1486Gly)
c.4085A>G (p.Glu1362Gly)
c.4241A>G (p.Glu1414Gly)
c.4448A>G (p.Glu1483Gly)
c.3749A>G (p.Glu1250Gly)
c.4496A>G (p.Glu1499Gly)
dbSNP
16g.3736708T>GCA394563587CREBBPc.4502A>C (p.Glu1501Ala)
c.4388A>C (p.Glu1463Ala)
c.3137A>C (p.Glu1046Ala)
n.292A>C
n.323A>C
n.3325A>C
c.4457A>C (p.Glu1486Ala)
c.4085A>C (p.Glu1362Ala)
c.4241A>C (p.Glu1414Ala)
c.4448A>C (p.Glu1483Ala)
c.3749A>C (p.Glu1250Ala)
c.4496A>C (p.Glu1499Ala)
16g.3736709C>ACA394563589CREBBPc.4501G>T (p.Glu1501Ter)
c.4387G>T (p.Glu1463Ter)
c.3136G>T (p.Glu1046Ter)
n.291G>T
n.322G>T
n.3324G>T
c.4456G>T (p.Glu1486Ter)
c.4084G>T (p.Glu1362Ter)
c.4240G>T (p.Glu1414Ter)
c.4447G>T (p.Glu1483Ter)
c.3748G>T (p.Glu1250Ter)
c.4495G>T (p.Glu1499Ter)
dbSNP
16g.3736709C>GCA394563591CREBBPc.4501G>C (p.Glu1501Gln)
c.4387G>C (p.Glu1463Gln)
c.3136G>C (p.Glu1046Gln)
n.291G>C
n.322G>C
n.3324G>C
c.4456G>C (p.Glu1486Gln)
c.4084G>C (p.Glu1362Gln)
c.4240G>C (p.Glu1414Gln)
c.4447G>C (p.Glu1483Gln)
c.3748G>C (p.Glu1250Gln)
c.4495G>C (p.Glu1499Gln)
dbSNP
16g.3736709C>TCA394563593CREBBPc.4501G>A (p.Glu1501Lys)
c.4387G>A (p.Glu1463Lys)
c.3136G>A (p.Glu1046Lys)
n.291G>A
n.322G>A
n.3324G>A
c.4456G>A (p.Glu1486Lys)
c.4084G>A (p.Glu1362Lys)
c.4240G>A (p.Glu1414Lys)
c.4447G>A (p.Glu1483Lys)
c.3748G>A (p.Glu1250Lys)
c.4495G>A (p.Glu1499Lys)
dbSNP
16g.3736710C>ACA394563599CREBBPc.4500G>T (p.Gln1500His)
c.4386G>T (p.Gln1462His)
c.3135G>T (p.Gln1045His)
n.290G>T
n.321G>T
n.3323G>T
c.4455G>T (p.Gln1485His)
c.4083G>T (p.Gln1361His)
c.4239G>T (p.Gln1413His)
c.4446G>T (p.Gln1482His)
c.3747G>T (p.Gln1249His)
c.4494G>T (p.Gln1498His)
16g.3736710C>GCA394563596CREBBPc.4500G>C (p.Gln1500His)
c.4386G>C (p.Gln1462His)
c.3135G>C (p.Gln1045His)
n.290G>C
n.321G>C
n.3323G>C
c.4455G>C (p.Gln1485His)
c.4083G>C (p.Gln1361His)
c.4239G>C (p.Gln1413His)
c.4446G>C (p.Gln1482His)
c.3747G>C (p.Gln1249His)
c.4494G>C (p.Gln1498His)
dbSNP
16g.3736710C>TCA493279293CREBBPc.4500G>A (p.Gln1500=)
c.4386G>A (p.Gln1462=)
c.3135G>A (p.Gln1045=)
n.290G>A
n.321G>A
n.3323G>A
c.4455G>A (p.Gln1485=)
c.4083G>A (p.Gln1361=)
c.4239G>A (p.Gln1413=)
c.4446G>A (p.Gln1482=)
c.3747G>A (p.Gln1249=)
c.4494G>A (p.Gln1498=)
dbSNP gnomAD v4
16g.3736711T>ACA394563602CREBBPc.4499A>T (p.Gln1500Leu)
c.4385A>T (p.Gln1462Leu)
c.3134A>T (p.Gln1045Leu)
n.289A>T
n.320A>T
n.3322A>T
c.4454A>T (p.Gln1485Leu)
c.4082A>T (p.Gln1361Leu)
c.4238A>T (p.Gln1413Leu)
c.4445A>T (p.Gln1482Leu)
c.3746A>T (p.Gln1249Leu)
c.4493A>T (p.Gln1498Leu)
COSMIC
16g.3736711T>CCA394563605CREBBPc.4499A>G (p.Gln1500Arg)
c.4385A>G (p.Gln1462Arg)
c.3134A>G (p.Gln1045Arg)
n.289A>G
n.320A>G
n.3322A>G
c.4454A>G (p.Gln1485Arg)
c.4082A>G (p.Gln1361Arg)
c.4238A>G (p.Gln1413Arg)
c.4445A>G (p.Gln1482Arg)
c.3746A>G (p.Gln1249Arg)
c.4493A>G (p.Gln1498Arg)
dbSNP
16g.3736711T>GCA394563607CREBBPc.4499A>C (p.Gln1500Pro)
c.4385A>C (p.Gln1462Pro)
c.3134A>C (p.Gln1045Pro)
n.289A>C
n.320A>C
n.3322A>C
c.4454A>C (p.Gln1485Pro)
c.4082A>C (p.Gln1361Pro)
c.4238A>C (p.Gln1413Pro)
c.4445A>C (p.Gln1482Pro)
c.3746A>C (p.Gln1249Pro)
c.4493A>C (p.Gln1498Pro)
COSMIC
16g.3736712G>ACA394563610CREBBPc.4498C>T (p.Gln1500Ter)
c.4384C>T (p.Gln1462Ter)
c.3133C>T (p.Gln1045Ter)
n.288C>T
n.319C>T
n.3321C>T
c.4453C>T (p.Gln1485Ter)
c.4081C>T (p.Gln1361Ter)
c.4237C>T (p.Gln1413Ter)
c.4444C>T (p.Gln1482Ter)
c.3745C>T (p.Gln1249Ter)
c.4492C>T (p.Gln1498Ter)
dbSNP
16g.3736712G>CCA394563613CREBBPc.4498C>G (p.Gln1500Glu)
c.4384C>G (p.Gln1462Glu)
c.3133C>G (p.Gln1045Glu)
n.288C>G
n.319C>G
n.3321C>G
c.4453C>G (p.Gln1485Glu)
c.4081C>G (p.Gln1361Glu)
c.4237C>G (p.Gln1413Glu)
c.4444C>G (p.Gln1482Glu)
c.3745C>G (p.Gln1249Glu)
c.4492C>G (p.Gln1498Glu)
dbSNP
16g.3736712G>TCA394563616CREBBPc.4498C>A (p.Gln1500Lys)
c.4384C>A (p.Gln1462Lys)
c.3133C>A (p.Gln1045Lys)
n.288C>A
n.319C>A
n.3321C>A
c.4453C>A (p.Gln1485Lys)
c.4081C>A (p.Gln1361Lys)
c.4237C>A (p.Gln1413Lys)
c.4444C>A (p.Gln1482Lys)
c.3745C>A (p.Gln1249Lys)
c.4492C>A (p.Gln1498Lys)
dbSNP
16g.3736713C>ACA493279301CREBBPc.4497G>T (p.Leu1499=)
c.4383G>T (p.Leu1461=)
c.3132G>T (p.Leu1044=)
n.287G>T
n.318G>T
n.3320G>T
c.4452G>T (p.Leu1484=)
c.4080G>T (p.Leu1360=)
c.4236G>T (p.Leu1412=)
c.4443G>T (p.Leu1481=)
c.3744G>T (p.Leu1248=)
c.4491G>T (p.Leu1497=)
dbSNP
16g.3736713C>GCA493279305CREBBPc.4497G>C (p.Leu1499=)
c.4383G>C (p.Leu1461=)
c.3132G>C (p.Leu1044=)
n.287G>C
n.318G>C
n.3320G>C
c.4452G>C (p.Leu1484=)
c.4080G>C (p.Leu1360=)
c.4236G>C (p.Leu1412=)
c.4443G>C (p.Leu1481=)
c.3744G>C (p.Leu1248=)
c.4491G>C (p.Leu1497=)
dbSNP gnomAD v4
16g.3736713C>TCA493279303CREBBPc.4497G>A (p.Leu1499=)
c.4383G>A (p.Leu1461=)
c.3132G>A (p.Leu1044=)
n.287G>A
n.318G>A
n.3320G>A
c.4452G>A (p.Leu1484=)
c.4080G>A (p.Leu1360=)
c.4236G>A (p.Leu1412=)
c.4443G>A (p.Leu1481=)
c.3744G>A (p.Leu1248=)
c.4491G>A (p.Leu1497=)
dbSNP
16g.3736714A>CCA394563618CREBBPc.4496T>G (p.Leu1499Arg)
c.4382T>G (p.Leu1461Arg)
c.3131T>G (p.Leu1044Arg)
n.286T>G
n.317T>G
n.3319T>G
c.4451T>G (p.Leu1484Arg)
c.4079T>G (p.Leu1360Arg)
c.4235T>G (p.Leu1412Arg)
c.4442T>G (p.Leu1481Arg)
c.3743T>G (p.Leu1248Arg)
c.4490T>G (p.Leu1497Arg)
COSMIC
16g.3736714A>GCA394563621CREBBPc.4496T>C (p.Leu1499Pro)
c.4382T>C (p.Leu1461Pro)
c.3131T>C (p.Leu1044Pro)
n.286T>C
n.317T>C
n.3319T>C
c.4451T>C (p.Leu1484Pro)
c.4079T>C (p.Leu1360Pro)
c.4235T>C (p.Leu1412Pro)
c.4442T>C (p.Leu1481Pro)
c.3743T>C (p.Leu1248Pro)
c.4490T>C (p.Leu1497Pro)
gnomAD v4 COSMIC
16g.3736714A>TCA394563624CREBBPc.4496T>A (p.Leu1499Gln)
c.4382T>A (p.Leu1461Gln)
c.3131T>A (p.Leu1044Gln)
n.286T>A
n.317T>A
n.3319T>A
c.4451T>A (p.Leu1484Gln)
c.4079T>A (p.Leu1360Gln)
c.4235T>A (p.Leu1412Gln)
c.4442T>A (p.Leu1481Gln)
c.3743T>A (p.Leu1248Gln)
c.4490T>A (p.Leu1497Gln)
dbSNP COSMIC
16g.3736715G>ACA493279311CREBBPc.4495C>T (p.Leu1499=)
c.4381C>T (p.Leu1461=)
c.3130C>T (p.Leu1044=)
n.285C>T
n.316C>T
n.3318C>T
c.4450C>T (p.Leu1484=)
c.4078C>T (p.Leu1360=)
c.4234C>T (p.Leu1412=)
c.4441C>T (p.Leu1481=)
c.3742C>T (p.Leu1248=)
c.4489C>T (p.Leu1497=)
dbSNP
16g.3736715G>CCA394563628CREBBPc.4495C>G (p.Leu1499Val)
c.4381C>G (p.Leu1461Val)
c.3130C>G (p.Leu1044Val)
n.285C>G
n.316C>G
n.3318C>G
c.4450C>G (p.Leu1484Val)
c.4078C>G (p.Leu1360Val)
c.4234C>G (p.Leu1412Val)
c.4441C>G (p.Leu1481Val)
c.3742C>G (p.Leu1248Val)
c.4489C>G (p.Leu1497Val)
ClinVar dbSNP
16g.3736715G=CA2202936613CREBBPc.4495C= (p.Leu1499=)
c.4381C= (p.Leu1461=)
c.3130C= (p.Leu1044=)
n.285C=
n.316C=
n.3318C=
c.4450C= (p.Leu1484=)
c.4078C= (p.Leu1360=)
c.4234C= (p.Leu1412=)
c.4441C= (p.Leu1481=)
c.3742C= (p.Leu1248=)
c.4489C= (p.Leu1497=)
16g.3736715G>TCA394563629CREBBPc.4495C>A (p.Leu1499Met)
c.4381C>A (p.Leu1461Met)
c.3130C>A (p.Leu1044Met)
n.285C>A
n.316C>A
n.3318C>A
c.4450C>A (p.Leu1484Met)
c.4078C>A (p.Leu1360Met)
c.4234C>A (p.Leu1412Met)
c.4441C>A (p.Leu1481Met)
c.3742C>A (p.Leu1248Met)
c.4489C>A (p.Leu1497Met)
16g.3736716T>ACA493279312CREBBPc.4494A>T (p.Arg1498=)
c.4380A>T (p.Arg1460=)
c.3129A>T (p.Arg1043=)
n.284A>T
n.315A>T
n.3317A>T
c.4449A>T (p.Arg1483=)
c.4077A>T (p.Arg1359=)
c.4233A>T (p.Arg1411=)
c.4440A>T (p.Arg1480=)
c.3741A>T (p.Arg1247=)
c.4488A>T (p.Arg1496=)
16g.3736716T>CCA202087CREBBPc.4494A>G (p.Arg1498=)
c.4380A>G (p.Arg1460=)
c.3129A>G (p.Arg1043=)
n.284A>G
n.315A>G
n.3317A>G
c.4449A>G (p.Arg1483=)
c.4077A>G (p.Arg1359=)
c.4233A>G (p.Arg1411=)
c.4440A>G (p.Arg1480=)
c.3741A>G (p.Arg1247=)
c.4488A>G (p.Arg1496=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736716T>GCA493279316CREBBPc.4494A>C (p.Arg1498=)
c.4380A>C (p.Arg1460=)
c.3129A>C (p.Arg1043=)
n.284A>C
n.315A>C
n.3317A>C
c.4449A>C (p.Arg1483=)
c.4077A>C (p.Arg1359=)
c.4233A>C (p.Arg1411=)
c.4440A>C (p.Arg1480=)
c.3741A>C (p.Arg1247=)
c.4488A>C (p.Arg1496=)
16g.3736716T=CA2202936620CREBBPc.4494A= (p.Arg1498=)
c.4380A= (p.Arg1460=)
c.3129A= (p.Arg1043=)
n.284A=
n.315A=
n.3317A=
c.4449A= (p.Arg1483=)
c.4077A= (p.Arg1359=)
c.4233A= (p.Arg1411=)
c.4440A= (p.Arg1480=)
c.3741A= (p.Arg1247=)
c.4488A= (p.Arg1496=)
16g.3736717C>ACA394563634CREBBPc.4493G>T (p.Arg1498Leu)
c.4379G>T (p.Arg1460Leu)
c.3128G>T (p.Arg1043Leu)
n.283G>T
n.314G>T
n.3316G>T
c.4448G>T (p.Arg1483Leu)
c.4076G>T (p.Arg1359Leu)
c.4232G>T (p.Arg1411Leu)
c.4439G>T (p.Arg1480Leu)
c.3740G>T (p.Arg1247Leu)
c.4487G>T (p.Arg1496Leu)
dbSNP gnomAD v4
16g.3736717C=CA2202936625CREBBPc.4493G= (p.Arg1498=)
c.4379G= (p.Arg1460=)
c.3128G= (p.Arg1043=)
n.283G=
n.314G=
n.3316G=
c.4448G= (p.Arg1483=)
c.4076G= (p.Arg1359=)
c.4232G= (p.Arg1411=)
c.4439G= (p.Arg1480=)
c.3740G= (p.Arg1247=)
c.4487G= (p.Arg1496=)
16g.3736717C>GCA394563637CREBBPc.4493G>C (p.Arg1498Pro)
c.4379G>C (p.Arg1460Pro)
c.3128G>C (p.Arg1043Pro)
n.283G>C
n.314G>C
n.3316G>C
c.4448G>C (p.Arg1483Pro)
c.4076G>C (p.Arg1359Pro)
c.4232G>C (p.Arg1411Pro)
c.4439G>C (p.Arg1480Pro)
c.3740G>C (p.Arg1247Pro)
c.4487G>C (p.Arg1496Pro)
dbSNP
16g.3736717C>TCA394563635CREBBPc.4493G>A (p.Arg1498Gln)
c.4379G>A (p.Arg1460Gln)
c.3128G>A (p.Arg1043Gln)
n.283G>A
n.314G>A
n.3316G>A
c.4448G>A (p.Arg1483Gln)
c.4076G>A (p.Arg1359Gln)
c.4232G>A (p.Arg1411Gln)
c.4439G>A (p.Arg1480Gln)
c.3740G>A (p.Arg1247Gln)
c.4487G>A (p.Arg1496Gln)
ClinVar dbSNP gnomAD v4
16g.3736718G>ACA394563638CREBBPc.4492C>T (p.Arg1498Ter)
c.4378C>T (p.Arg1460Ter)
c.3127C>T (p.Arg1043Ter)
n.282C>T
n.313C>T
n.3315C>T
c.4447C>T (p.Arg1483Ter)
c.4075C>T (p.Arg1359Ter)
c.4231C>T (p.Arg1411Ter)
c.4438C>T (p.Arg1480Ter)
c.3739C>T (p.Arg1247Ter)
c.4486C>T (p.Arg1496Ter)
ClinVar dbSNP COSMIC
16g.3736718G>CCA394563641CREBBPc.4492C>G (p.Arg1498Gly)
c.4378C>G (p.Arg1460Gly)
c.3127C>G (p.Arg1043Gly)
n.282C>G
n.313C>G
n.3315C>G
c.4447C>G (p.Arg1483Gly)
c.4075C>G (p.Arg1359Gly)
c.4231C>G (p.Arg1411Gly)
c.4438C>G (p.Arg1480Gly)
c.3739C>G (p.Arg1247Gly)
c.4486C>G (p.Arg1496Gly)
16g.3736718G=CA2202936630CREBBPc.4492C= (p.Arg1498=)
c.4378C= (p.Arg1460=)
c.3127C= (p.Arg1043=)
n.282C=
n.313C=
n.3315C=
c.4447C= (p.Arg1483=)
c.4075C= (p.Arg1359=)
c.4231C= (p.Arg1411=)
c.4438C= (p.Arg1480=)
c.3739C= (p.Arg1247=)
c.4486C= (p.Arg1496=)
16g.3736718G>TCA493279326CREBBPc.4492C>A (p.Arg1498=)
c.4378C>A (p.Arg1460=)
c.3127C>A (p.Arg1043=)
n.282C>A
n.313C>A
n.3315C>A
c.4447C>A (p.Arg1483=)
c.4075C>A (p.Arg1359=)
c.4231C>A (p.Arg1411=)
c.4438C>A (p.Arg1480=)
c.3739C>A (p.Arg1247=)
c.4486C>A (p.Arg1496=)
16g.3736719T>ACA394563643CREBBPc.4491A>T (p.Lys1497Asn)
c.4377A>T (p.Lys1459Asn)
c.3126A>T (p.Lys1042Asn)
n.281A>T
n.312A>T
n.3314A>T
c.4446A>T (p.Lys1482Asn)
c.4074A>T (p.Lys1358Asn)
c.4230A>T (p.Lys1410Asn)
c.4437A>T (p.Lys1479Asn)
c.3738A>T (p.Lys1246Asn)
c.4485A>T (p.Lys1495Asn)
dbSNP
16g.3736719T>CCA493279329CREBBPc.4491A>G (p.Lys1497=)
c.4377A>G (p.Lys1459=)
c.3126A>G (p.Lys1042=)
n.281A>G
n.312A>G
n.3314A>G
c.4446A>G (p.Lys1482=)
c.4074A>G (p.Lys1358=)
c.4230A>G (p.Lys1410=)
c.4437A>G (p.Lys1479=)
c.3738A>G (p.Lys1246=)
c.4485A>G (p.Lys1495=)
16g.3736719T>GCA394563646CREBBPc.4491A>C (p.Lys1497Asn)
c.4377A>C (p.Lys1459Asn)
c.3126A>C (p.Lys1042Asn)
n.281A>C
n.312A>C
n.3314A>C
c.4446A>C (p.Lys1482Asn)
c.4074A>C (p.Lys1358Asn)
c.4230A>C (p.Lys1410Asn)
c.4437A>C (p.Lys1479Asn)
c.3738A>C (p.Lys1246Asn)
c.4485A>C (p.Lys1495Asn)
dbSNP
16g.3736719_3736720insGCA2631401613CREBBPc.4490_4491insC (p.Lys1497AsnfsTer22)
c.4376_4377insC (p.Lys1459AsnfsTer22)
c.3125_3126insC (p.Lys1042AsnfsTer22)
n.280_281insC
n.311_312insC
n.3313_3314insC
c.4445_4446insC (p.Lys1482AsnfsTer22)
c.4073_4074insC (p.Lys1358AsnfsTer22)
c.4229_4230insC (p.Lys1410AsnfsTer22)
c.4436_4437insC (p.Lys1479AsnfsTer22)
c.3737_3738insC (p.Lys1246AsnfsTer22)
c.4484_4485insC (p.Lys1495AsnfsTer22)
gnomAD v4
16g.3736720T>ACA394563650CREBBPc.4490A>T (p.Lys1497Ile)
c.4376A>T (p.Lys1459Ile)
c.3125A>T (p.Lys1042Ile)
n.280A>T
n.311A>T
n.3313A>T
c.4445A>T (p.Lys1482Ile)
c.4073A>T (p.Lys1358Ile)
c.4229A>T (p.Lys1410Ile)
c.4436A>T (p.Lys1479Ile)
c.3737A>T (p.Lys1246Ile)
c.4484A>T (p.Lys1495Ile)
dbSNP
16g.3736720T>CCA394563654CREBBPc.4490A>G (p.Lys1497Arg)
c.4376A>G (p.Lys1459Arg)
c.3125A>G (p.Lys1042Arg)
n.280A>G
n.311A>G
n.3313A>G
c.4445A>G (p.Lys1482Arg)
c.4073A>G (p.Lys1358Arg)
c.4229A>G (p.Lys1410Arg)
c.4436A>G (p.Lys1479Arg)
c.3737A>G (p.Lys1246Arg)
c.4484A>G (p.Lys1495Arg)
dbSNP
16g.3736720T>GCA394563651CREBBPc.4490A>C (p.Lys1497Thr)
c.4376A>C (p.Lys1459Thr)
c.3125A>C (p.Lys1042Thr)
n.280A>C
n.311A>C
n.3313A>C
c.4445A>C (p.Lys1482Thr)
c.4073A>C (p.Lys1358Thr)
c.4229A>C (p.Lys1410Thr)
c.4436A>C (p.Lys1479Thr)
c.3737A>C (p.Lys1246Thr)
c.4484A>C (p.Lys1495Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736720T=CA2202936635CREBBPc.4490A= (p.Lys1497=)
c.4376A= (p.Lys1459=)
c.3125A= (p.Lys1042=)
n.280A=
n.311A=
n.3313A=
c.4445A= (p.Lys1482=)
c.4073A= (p.Lys1358=)
c.4229A= (p.Lys1410=)
c.4436A= (p.Lys1479=)
c.3737A= (p.Lys1246=)
c.4484A= (p.Lys1495=)
16g.3736721T>ACA394563657CREBBPc.4489A>T (p.Lys1497Ter)
c.4375A>T (p.Lys1459Ter)
c.3124A>T (p.Lys1042Ter)
n.279A>T
n.310A>T
n.3312A>T
c.4444A>T (p.Lys1482Ter)
c.4072A>T (p.Lys1358Ter)
c.4228A>T (p.Lys1410Ter)
c.4435A>T (p.Lys1479Ter)
c.3736A>T (p.Lys1246Ter)
c.4483A>T (p.Lys1495Ter)
dbSNP
16g.3736721T>CCA394563658CREBBPc.4489A>G (p.Lys1497Glu)
c.4375A>G (p.Lys1459Glu)
c.3124A>G (p.Lys1042Glu)
n.279A>G
n.310A>G
n.3312A>G
c.4444A>G (p.Lys1482Glu)
c.4072A>G (p.Lys1358Glu)
c.4228A>G (p.Lys1410Glu)
c.4435A>G (p.Lys1479Glu)
c.3736A>G (p.Lys1246Glu)
c.4483A>G (p.Lys1495Glu)
dbSNP
16g.3736721T>GCA394563660CREBBPc.4489A>C (p.Lys1497Gln)
c.4375A>C (p.Lys1459Gln)
c.3124A>C (p.Lys1042Gln)
n.279A>C
n.310A>C
n.3312A>C
c.4444A>C (p.Lys1482Gln)
c.4072A>C (p.Lys1358Gln)
c.4228A>C (p.Lys1410Gln)
c.4435A>C (p.Lys1479Gln)
c.3736A>C (p.Lys1246Gln)
c.4483A>C (p.Lys1495Gln)
16g.3736722T>ACA493279335CREBBPc.4488A>T (p.Pro1496=)
c.4374A>T (p.Pro1458=)
c.3123A>T (p.Pro1041=)
n.278A>T
n.309A>T
n.3311A>T
c.4443A>T (p.Pro1481=)
c.4071A>T (p.Pro1357=)
c.4227A>T (p.Pro1409=)
c.4434A>T (p.Pro1478=)
c.3735A>T (p.Pro1245=)
c.4482A>T (p.Pro1494=)
dbSNP
16g.3736722T>CCA493279337CREBBPc.4488A>G (p.Pro1496=)
c.4374A>G (p.Pro1458=)
c.3123A>G (p.Pro1041=)
n.278A>G
n.309A>G
n.3311A>G
c.4443A>G (p.Pro1481=)
c.4071A>G (p.Pro1357=)
c.4227A>G (p.Pro1409=)
c.4434A>G (p.Pro1478=)
c.3735A>G (p.Pro1245=)
c.4482A>G (p.Pro1494=)
ClinVar dbSNP gnomAD v4
16g.3736722T>GCA493279339CREBBPc.4488A>C (p.Pro1496=)
c.4374A>C (p.Pro1458=)
c.3123A>C (p.Pro1041=)
n.278A>C
n.309A>C
n.3311A>C
c.4443A>C (p.Pro1481=)
c.4071A>C (p.Pro1357=)
c.4227A>C (p.Pro1409=)
c.4434A>C (p.Pro1478=)
c.3735A>C (p.Pro1245=)
c.4482A>C (p.Pro1494=)
gnomAD v4
16g.3736722T=CA2202936639CREBBPc.4488A= (p.Pro1496=)
c.4374A= (p.Pro1458=)
c.3123A= (p.Pro1041=)
n.278A=
n.309A=
n.3311A=
c.4443A= (p.Pro1481=)
c.4071A= (p.Pro1357=)
c.4227A= (p.Pro1409=)
c.4434A= (p.Pro1478=)
c.3735A= (p.Pro1245=)
c.4482A= (p.Pro1494=)
16g.3736723G>ACA394563662CREBBPc.4487C>T (p.Pro1496Leu)
c.4373C>T (p.Pro1458Leu)
c.3122C>T (p.Pro1041Leu)
n.277C>T
n.308C>T
n.3310C>T
c.4442C>T (p.Pro1481Leu)
c.4070C>T (p.Pro1357Leu)
c.4226C>T (p.Pro1409Leu)
c.4433C>T (p.Pro1478Leu)
c.3734C>T (p.Pro1245Leu)
c.4481C>T (p.Pro1494Leu)
dbSNP
16g.3736723G>CCA394563664CREBBPc.4487C>G (p.Pro1496Arg)
c.4373C>G (p.Pro1458Arg)
c.3122C>G (p.Pro1041Arg)
n.277C>G
n.308C>G
n.3310C>G
c.4442C>G (p.Pro1481Arg)
c.4070C>G (p.Pro1357Arg)
c.4226C>G (p.Pro1409Arg)
c.4433C>G (p.Pro1478Arg)
c.3734C>G (p.Pro1245Arg)
c.4481C>G (p.Pro1494Arg)
dbSNP
16g.3736723G>TCA394563665CREBBPc.4487C>A (p.Pro1496Gln)
c.4373C>A (p.Pro1458Gln)
c.3122C>A (p.Pro1041Gln)
n.277C>A
n.308C>A
n.3310C>A
c.4442C>A (p.Pro1481Gln)
c.4070C>A (p.Pro1357Gln)
c.4226C>A (p.Pro1409Gln)
c.4433C>A (p.Pro1478Gln)
c.3734C>A (p.Pro1245Gln)
c.4481C>A (p.Pro1494Gln)
dbSNP gnomAD v4
16g.3736724G>ACA394563666CREBBPc.4486C>T (p.Pro1496Ser)
c.4372C>T (p.Pro1458Ser)
c.3121C>T (p.Pro1041Ser)
n.276C>T
n.307C>T
n.3309C>T
c.4441C>T (p.Pro1481Ser)
c.4069C>T (p.Pro1357Ser)
c.4225C>T (p.Pro1409Ser)
c.4432C>T (p.Pro1478Ser)
c.3733C>T (p.Pro1245Ser)
c.4480C>T (p.Pro1494Ser)
dbSNP
16g.3736724G>CCA394563668CREBBPc.4486C>G (p.Pro1496Ala)
c.4372C>G (p.Pro1458Ala)
c.3121C>G (p.Pro1041Ala)
n.276C>G
n.307C>G
n.3309C>G
c.4441C>G (p.Pro1481Ala)
c.4069C>G (p.Pro1357Ala)
c.4225C>G (p.Pro1409Ala)
c.4432C>G (p.Pro1478Ala)
c.3733C>G (p.Pro1245Ala)
c.4480C>G (p.Pro1494Ala)
dbSNP
16g.3736724G>TCA394563671CREBBPc.4486C>A (p.Pro1496Thr)
c.4372C>A (p.Pro1458Thr)
c.3121C>A (p.Pro1041Thr)
n.276C>A
n.307C>A
n.3309C>A
c.4441C>A (p.Pro1481Thr)
c.4069C>A (p.Pro1357Thr)
c.4225C>A (p.Pro1409Thr)
c.4432C>A (p.Pro1478Thr)
c.3733C>A (p.Pro1245Thr)
c.4480C>A (p.Pro1494Thr)
dbSNP
16g.3736725delCA2631401615CREBBPc.4485del (p.Lys1495AsnfsTer?)
c.4371del (p.Lys1457AsnfsTer?)
c.3120del (p.Lys1040AsnfsTer?)
n.275del
n.306del
n.3308del
c.4440del (p.Lys1480AsnfsTer?)
c.4068del (p.Lys1356AsnfsTer?)
c.4224del (p.Lys1408AsnfsTer?)
c.4431del (p.Lys1477AsnfsTer?)
c.3732del (p.Lys1244AsnfsTer?)
c.4479del (p.Lys1493AsnfsTer?)
gnomAD v4
16g.3736725C>ACA394563672CREBBPc.4485G>T (p.Lys1495Asn)
c.4371G>T (p.Lys1457Asn)
c.3120G>T (p.Lys1040Asn)
n.275G>T
n.306G>T
n.3308G>T
c.4440G>T (p.Lys1480Asn)
c.4068G>T (p.Lys1356Asn)
c.4224G>T (p.Lys1408Asn)
c.4431G>T (p.Lys1477Asn)
c.3732G>T (p.Lys1244Asn)
c.4479G>T (p.Lys1493Asn)
dbSNP
16g.3736725C>GCA394563675CREBBPc.4485G>C (p.Lys1495Asn)
c.4371G>C (p.Lys1457Asn)
c.3120G>C (p.Lys1040Asn)
n.275G>C
n.306G>C
n.3308G>C
c.4440G>C (p.Lys1480Asn)
c.4068G>C (p.Lys1356Asn)
c.4224G>C (p.Lys1408Asn)
c.4431G>C (p.Lys1477Asn)
c.3732G>C (p.Lys1244Asn)
c.4479G>C (p.Lys1493Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736725C>TCA493279352CREBBPc.4485G>A (p.Lys1495=)
c.4371G>A (p.Lys1457=)
c.3120G>A (p.Lys1040=)
n.275G>A
n.306G>A
n.3308G>A
c.4440G>A (p.Lys1480=)
c.4068G>A (p.Lys1356=)
c.4224G>A (p.Lys1408=)
c.4431G>A (p.Lys1477=)
c.3732G>A (p.Lys1244=)
c.4479G>A (p.Lys1493=)
dbSNP
16g.3736726T>ACA394563679CREBBPc.4484A>T (p.Lys1495Met)
c.4370A>T (p.Lys1457Met)
c.3119A>T (p.Lys1040Met)
n.274A>T
n.305A>T
n.3307A>T
c.4439A>T (p.Lys1480Met)
c.4067A>T (p.Lys1356Met)
c.4223A>T (p.Lys1408Met)
c.4430A>T (p.Lys1477Met)
c.3731A>T (p.Lys1244Met)
c.4478A>T (p.Lys1493Met)
dbSNP
16g.3736726T>CCA394563676CREBBPc.4484A>G (p.Lys1495Arg)
c.4370A>G (p.Lys1457Arg)
c.3119A>G (p.Lys1040Arg)
n.274A>G
n.305A>G
n.3307A>G
c.4439A>G (p.Lys1480Arg)
c.4067A>G (p.Lys1356Arg)
c.4223A>G (p.Lys1408Arg)
c.4430A>G (p.Lys1477Arg)
c.3731A>G (p.Lys1244Arg)
c.4478A>G (p.Lys1493Arg)
dbSNP
16g.3736726T>GCA394563678CREBBPc.4484A>C (p.Lys1495Thr)
c.4370A>C (p.Lys1457Thr)
c.3119A>C (p.Lys1040Thr)
n.274A>C
n.305A>C
n.3307A>C
c.4439A>C (p.Lys1480Thr)
c.4067A>C (p.Lys1356Thr)
c.4223A>C (p.Lys1408Thr)
c.4430A>C (p.Lys1477Thr)
c.3731A>C (p.Lys1244Thr)
c.4478A>C (p.Lys1493Thr)
ClinVar gnomAD v4
16g.3736726T=CA2202936645CREBBPc.4484A= (p.Lys1495=)
c.4370A= (p.Lys1457=)
c.3119A= (p.Lys1040=)
n.274A=
n.305A=
n.3307A=
c.4439A= (p.Lys1480=)
c.4067A= (p.Lys1356=)
c.4223A= (p.Lys1408=)
c.4430A= (p.Lys1477=)
c.3731A= (p.Lys1244=)
c.4478A= (p.Lys1493=)
16g.3736727T>ACA394563682CREBBPc.4483A>T (p.Lys1495Ter)
c.4369A>T (p.Lys1457Ter)
c.3118A>T (p.Lys1040Ter)
n.273A>T
n.304A>T
n.3306A>T
c.4438A>T (p.Lys1480Ter)
c.4066A>T (p.Lys1356Ter)
c.4222A>T (p.Lys1408Ter)
c.4429A>T (p.Lys1477Ter)
c.3730A>T (p.Lys1244Ter)
c.4477A>T (p.Lys1493Ter)
COSMIC
16g.3736727T>CCA394563684CREBBPc.4483A>G (p.Lys1495Glu)
c.4369A>G (p.Lys1457Glu)
c.3118A>G (p.Lys1040Glu)
n.273A>G
n.304A>G
n.3306A>G
c.4438A>G (p.Lys1480Glu)
c.4066A>G (p.Lys1356Glu)
c.4222A>G (p.Lys1408Glu)
c.4429A>G (p.Lys1477Glu)
c.3730A>G (p.Lys1244Glu)
c.4477A>G (p.Lys1493Glu)
16g.3736727T>GCA394563686CREBBPc.4483A>C (p.Lys1495Gln)
c.4369A>C (p.Lys1457Gln)
c.3118A>C (p.Lys1040Gln)
n.273A>C
n.304A>C
n.3306A>C
c.4438A>C (p.Lys1480Gln)
c.4066A>C (p.Lys1356Gln)
c.4222A>C (p.Lys1408Gln)
c.4429A>C (p.Lys1477Gln)
c.3730A>C (p.Lys1244Gln)
c.4477A>C (p.Lys1493Gln)
16g.3736728G>ACA493279361CREBBPc.4482C>T (p.Pro1494=)
c.4368C>T (p.Pro1456=)
c.3117C>T (p.Pro1039=)
n.272C>T
n.303C>T
n.3305C>T
c.4437C>T (p.Pro1479=)
c.4065C>T (p.Pro1355=)
c.4221C>T (p.Pro1407=)
c.4428C>T (p.Pro1476=)
c.3729C>T (p.Pro1243=)
c.4476C>T (p.Pro1492=)
dbSNP
16g.3736728G>CCA493279362CREBBPc.4482C>G (p.Pro1494=)
c.4368C>G (p.Pro1456=)
c.3117C>G (p.Pro1039=)
n.272C>G
n.303C>G
n.3305C>G
c.4437C>G (p.Pro1479=)
c.4065C>G (p.Pro1355=)
c.4221C>G (p.Pro1407=)
c.4428C>G (p.Pro1476=)
c.3729C>G (p.Pro1243=)
c.4476C>G (p.Pro1492=)
16g.3736728G>TCA493279363CREBBPc.4482C>A (p.Pro1494=)
c.4368C>A (p.Pro1456=)
c.3117C>A (p.Pro1039=)
n.272C>A
n.303C>A
n.3305C>A
c.4437C>A (p.Pro1479=)
c.4065C>A (p.Pro1355=)
c.4221C>A (p.Pro1407=)
c.4428C>A (p.Pro1476=)
c.3729C>A (p.Pro1243=)
c.4476C>A (p.Pro1492=)
dbSNP
16g.3736730dupCA2695222629CREBBPc.4482dup (p.Lys1495GlnfsTer24)
c.4368dup (p.Lys1457GlnfsTer24)
c.3117dup (p.Lys1040GlnfsTer24)
n.272dup
n.303dup
n.3305dup
c.4437dup (p.Lys1480GlnfsTer24)
c.4065dup (p.Lys1356GlnfsTer24)
c.4221dup (p.Lys1408GlnfsTer24)
c.4428dup (p.Lys1477GlnfsTer24)
c.3729dup (p.Lys1244GlnfsTer24)
c.4476dup (p.Lys1493GlnfsTer24)
16g.3736730delCA2580091147CREBBPc.4482del (p.Lys1495SerfsTer?)
c.4368del (p.Lys1457SerfsTer?)
c.3117del (p.Lys1040SerfsTer?)
n.272del
n.303del
n.3305del
c.4437del (p.Lys1480SerfsTer?)
c.4065del (p.Lys1356SerfsTer?)
c.4221del (p.Lys1408SerfsTer?)
c.4428del (p.Lys1477SerfsTer?)
c.3729del (p.Lys1244SerfsTer?)
c.4476del (p.Lys1493SerfsTer?)
ClinVar dbSNP
16g.3736729G>ACA394563689CREBBPc.4481C>T (p.Pro1494Leu)
c.4367C>T (p.Pro1456Leu)
c.3116C>T (p.Pro1039Leu)
n.271C>T
n.302C>T
n.3304C>T
c.4436C>T (p.Pro1479Leu)
c.4064C>T (p.Pro1355Leu)
c.4220C>T (p.Pro1407Leu)
c.4427C>T (p.Pro1476Leu)
c.3728C>T (p.Pro1243Leu)
c.4475C>T (p.Pro1492Leu)
dbSNP
16g.3736729G>CCA222697CREBBPc.4481C>G (p.Pro1494Arg)
c.4367C>G (p.Pro1456Arg)
c.3116C>G (p.Pro1039Arg)
n.271C>G
n.302C>G
n.3304C>G
c.4436C>G (p.Pro1479Arg)
c.4064C>G (p.Pro1355Arg)
c.4220C>G (p.Pro1407Arg)
c.4427C>G (p.Pro1476Arg)
c.3728C>G (p.Pro1243Arg)
c.4475C>G (p.Pro1492Arg)
ClinVar dbSNP
16g.3736729G=CA2202936648CREBBPc.4481C= (p.Pro1494=)
c.4367C= (p.Pro1456=)
c.3116C= (p.Pro1039=)
n.271C=
n.302C=
n.3304C=
c.4436C= (p.Pro1479=)
c.4064C= (p.Pro1355=)
c.4220C= (p.Pro1407=)
c.4427C= (p.Pro1476=)
c.3728C= (p.Pro1243=)
c.4475C= (p.Pro1492=)
16g.3736729G>TCA394563693CREBBPc.4481C>A (p.Pro1494His)
c.4367C>A (p.Pro1456His)
c.3116C>A (p.Pro1039His)
n.271C>A
n.302C>A
n.3304C>A
c.4436C>A (p.Pro1479His)
c.4064C>A (p.Pro1355His)
c.4220C>A (p.Pro1407His)
c.4427C>A (p.Pro1476His)
c.3728C>A (p.Pro1243His)
c.4475C>A (p.Pro1492His)
dbSNP
16g.3736730G>ACA394563695CREBBPc.4480C>T (p.Pro1494Ser)
c.4366C>T (p.Pro1456Ser)
c.3115C>T (p.Pro1039Ser)
n.270C>T
n.301C>T
n.3303C>T
c.4435C>T (p.Pro1479Ser)
c.4063C>T (p.Pro1355Ser)
c.4219C>T (p.Pro1407Ser)
c.4426C>T (p.Pro1476Ser)
c.3727C>T (p.Pro1243Ser)
c.4474C>T (p.Pro1492Ser)
ClinVar dbSNP
16g.3736730G>CCA394563697CREBBPc.4480C>G (p.Pro1494Ala)
c.4366C>G (p.Pro1456Ala)
c.3115C>G (p.Pro1039Ala)
n.270C>G
n.301C>G
n.3303C>G
c.4435C>G (p.Pro1479Ala)
c.4063C>G (p.Pro1355Ala)
c.4219C>G (p.Pro1407Ala)
c.4426C>G (p.Pro1476Ala)
c.3727C>G (p.Pro1243Ala)
c.4474C>G (p.Pro1492Ala)
dbSNP
16g.3736730G=CA2202936653CREBBPc.4480C= (p.Pro1494=)
c.4366C= (p.Pro1456=)
c.3115C= (p.Pro1039=)
n.270C=
n.301C=
n.3303C=
c.4435C= (p.Pro1479=)
c.4063C= (p.Pro1355=)
c.4219C= (p.Pro1407=)
c.4426C= (p.Pro1476=)
c.3727C= (p.Pro1243=)
c.4474C= (p.Pro1492=)
16g.3736730G>TCA276980075CREBBPc.4480C>A (p.Pro1494Thr)
c.4366C>A (p.Pro1456Thr)
c.3115C>A (p.Pro1039Thr)
n.270C>A
n.301C>A
n.3303C>A
c.4435C>A (p.Pro1479Thr)
c.4063C>A (p.Pro1355Thr)
c.4219C>A (p.Pro1407Thr)
c.4426C>A (p.Pro1476Thr)
c.3727C>A (p.Pro1243Thr)
c.4474C>A (p.Pro1492Thr)
dbSNP COSMIC
16g.3736731T>ACA493279376CREBBPc.4479A>T (p.Ile1493=)
c.4365A>T (p.Ile1455=)
c.3114A>T (p.Ile1038=)
n.269A>T
n.300A>T
n.3302A>T
c.4434A>T (p.Ile1478=)
c.4062A>T (p.Ile1354=)
c.4218A>T (p.Ile1406=)
c.4425A>T (p.Ile1475=)
c.3726A>T (p.Ile1242=)
c.4473A>T (p.Ile1491=)
dbSNP
16g.3736731T>CCA394563699CREBBPc.4479A>G (p.Ile1493Met)
c.4365A>G (p.Ile1455Met)
c.3114A>G (p.Ile1038Met)
n.269A>G
n.300A>G
n.3302A>G
c.4434A>G (p.Ile1478Met)
c.4062A>G (p.Ile1354Met)
c.4218A>G (p.Ile1406Met)
c.4425A>G (p.Ile1475Met)
c.3726A>G (p.Ile1242Met)
c.4473A>G (p.Ile1491Met)
dbSNP
16g.3736731T>GCA493279380CREBBPc.4479A>C (p.Ile1493=)
c.4365A>C (p.Ile1455=)
c.3114A>C (p.Ile1038=)
n.269A>C
n.300A>C
n.3302A>C
c.4434A>C (p.Ile1478=)
c.4062A>C (p.Ile1354=)
c.4218A>C (p.Ile1406=)
c.4425A>C (p.Ile1475=)
c.3726A>C (p.Ile1242=)
c.4473A>C (p.Ile1491=)
dbSNP gnomAD v4
16g.3736731T=CA2202936657CREBBPc.4479A= (p.Ile1493=)
c.4365A= (p.Ile1455=)
c.3114A= (p.Ile1038=)
n.269A=
n.300A=
n.3302A=
c.4434A= (p.Ile1478=)
c.4062A= (p.Ile1354=)
c.4218A= (p.Ile1406=)
c.4425A= (p.Ile1475=)
c.3726A= (p.Ile1242=)
c.4473A= (p.Ile1491=)
16g.3736731dupCA645575176CREBBPc.4479dup (p.Pro1494ThrfsTer25)
c.4365dup (p.Pro1456ThrfsTer25)
c.3114dup (p.Pro1039ThrfsTer25)
n.269dup
n.300dup
n.3302dup
c.4434dup (p.Pro1479ThrfsTer25)
c.4062dup (p.Pro1355ThrfsTer25)
c.4218dup (p.Pro1407ThrfsTer25)
c.4425dup (p.Pro1476ThrfsTer25)
c.3726dup (p.Pro1243ThrfsTer25)
c.4473dup (p.Pro1492ThrfsTer25)
COSMIC
16g.3736732A>CCA394563707CREBBPc.4478T>G (p.Ile1493Arg)
c.4364T>G (p.Ile1455Arg)
c.3113T>G (p.Ile1038Arg)
n.268T>G
n.299T>G
n.3301T>G
c.4433T>G (p.Ile1478Arg)
c.4061T>G (p.Ile1354Arg)
c.4217T>G (p.Ile1406Arg)
c.4424T>G (p.Ile1475Arg)
c.3725T>G (p.Ile1242Arg)
c.4472T>G (p.Ile1491Arg)
16g.3736732A>GCA394563704CREBBPc.4478T>C (p.Ile1493Thr)
c.4364T>C (p.Ile1455Thr)
c.3113T>C (p.Ile1038Thr)
n.268T>C
n.299T>C
n.3301T>C
c.4433T>C (p.Ile1478Thr)
c.4061T>C (p.Ile1354Thr)
c.4217T>C (p.Ile1406Thr)
c.4424T>C (p.Ile1475Thr)
c.3725T>C (p.Ile1242Thr)
c.4472T>C (p.Ile1491Thr)
16g.3736732A>TCA394563702CREBBPc.4478T>A (p.Ile1493Lys)
c.4364T>A (p.Ile1455Lys)
c.3113T>A (p.Ile1038Lys)
n.268T>A
n.299T>A
n.3301T>A
c.4433T>A (p.Ile1478Lys)
c.4061T>A (p.Ile1354Lys)
c.4217T>A (p.Ile1406Lys)
c.4424T>A (p.Ile1475Lys)
c.3725T>A (p.Ile1242Lys)
c.4472T>A (p.Ile1491Lys)
gnomAD v4 COSMIC
16g.3736733T>ACA394563710CREBBPc.4477A>T (p.Ile1493Leu)
c.4363A>T (p.Ile1455Leu)
c.3112A>T (p.Ile1038Leu)
n.267A>T
n.298A>T
n.3300A>T
c.4432A>T (p.Ile1478Leu)
c.4060A>T (p.Ile1354Leu)
c.4216A>T (p.Ile1406Leu)
c.4423A>T (p.Ile1475Leu)
c.3724A>T (p.Ile1242Leu)
c.4471A>T (p.Ile1491Leu)
16g.3736733T>CCA394563711CREBBPc.4477A>G (p.Ile1493Val)
c.4363A>G (p.Ile1455Val)
c.3112A>G (p.Ile1038Val)
n.267A>G
n.298A>G
n.3300A>G
c.4432A>G (p.Ile1478Val)
c.4060A>G (p.Ile1354Val)
c.4216A>G (p.Ile1406Val)
c.4423A>G (p.Ile1475Val)
c.3724A>G (p.Ile1242Val)
c.4471A>G (p.Ile1491Val)
16g.3736733T>GCA394563714CREBBPc.4477A>C (p.Ile1493Leu)
c.4363A>C (p.Ile1455Leu)
c.3112A>C (p.Ile1038Leu)
n.267A>C
n.298A>C
n.3300A>C
c.4432A>C (p.Ile1478Leu)
c.4060A>C (p.Ile1354Leu)
c.4216A>C (p.Ile1406Leu)
c.4423A>C (p.Ile1475Leu)
c.3724A>C (p.Ile1242Leu)
c.4471A>C (p.Ile1491Leu)
16g.3736738delCA493279389CREBBPc.4477del (p.Ile1493TyrfsTer?)
c.4363del (p.Ile1455TyrfsTer?)
c.3112del (p.Ile1038TyrfsTer?)
n.267del
n.298del
n.3300del
c.4432del (p.Ile1478TyrfsTer?)
c.4060del (p.Ile1354TyrfsTer?)
c.4216del (p.Ile1406TyrfsTer?)
c.4423del (p.Ile1475TyrfsTer?)
c.3724del (p.Ile1242TyrfsTer?)
c.4471del (p.Ile1491TyrfsTer?)
COSMIC
16g.3736734T>ACA394563717CREBBPc.4476A>T (p.Lys1492Asn)
c.4362A>T (p.Lys1454Asn)
c.3111A>T (p.Lys1037Asn)
n.266A>T
n.297A>T
n.3299A>T
c.4431A>T (p.Lys1477Asn)
c.4059A>T (p.Lys1353Asn)
c.4215A>T (p.Lys1405Asn)
c.4422A>T (p.Lys1474Asn)
c.3723A>T (p.Lys1241Asn)
c.4470A>T (p.Lys1490Asn)
dbSNP
16g.3736734T>CCA493279393CREBBPc.4476A>G (p.Lys1492=)
c.4362A>G (p.Lys1454=)
c.3111A>G (p.Lys1037=)
n.266A>G
n.297A>G
n.3299A>G
c.4431A>G (p.Lys1477=)
c.4059A>G (p.Lys1353=)
c.4215A>G (p.Lys1405=)
c.4422A>G (p.Lys1474=)
c.3723A>G (p.Lys1241=)
c.4470A>G (p.Lys1490=)
16g.3736734T>GCA394563719CREBBPc.4476A>C (p.Lys1492Asn)
c.4362A>C (p.Lys1454Asn)
c.3111A>C (p.Lys1037Asn)
n.266A>C
n.297A>C
n.3299A>C
c.4431A>C (p.Lys1477Asn)
c.4059A>C (p.Lys1353Asn)
c.4215A>C (p.Lys1405Asn)
c.4422A>C (p.Lys1474Asn)
c.3723A>C (p.Lys1241Asn)
c.4470A>C (p.Lys1490Asn)
16g.3736735T>ACA394563722CREBBPc.4475A>T (p.Lys1492Ile)
c.4361A>T (p.Lys1454Ile)
c.3110A>T (p.Lys1037Ile)
n.265A>T
n.296A>T
n.3298A>T
c.4430A>T (p.Lys1477Ile)
c.4058A>T (p.Lys1353Ile)
c.4214A>T (p.Lys1405Ile)
c.4421A>T (p.Lys1474Ile)
c.3722A>T (p.Lys1241Ile)
c.4469A>T (p.Lys1490Ile)
16g.3736735T>CCA394563724CREBBPc.4475A>G (p.Lys1492Arg)
c.4361A>G (p.Lys1454Arg)
c.3110A>G (p.Lys1037Arg)
n.265A>G
n.296A>G
n.3298A>G
c.4430A>G (p.Lys1477Arg)
c.4058A>G (p.Lys1353Arg)
c.4214A>G (p.Lys1405Arg)
c.4421A>G (p.Lys1474Arg)
c.3722A>G (p.Lys1241Arg)
c.4469A>G (p.Lys1490Arg)
16g.3736735T>GCA394563727CREBBPc.4475A>C (p.Lys1492Thr)
c.4361A>C (p.Lys1454Thr)
c.3110A>C (p.Lys1037Thr)
n.265A>C
n.296A>C
n.3298A>C
c.4430A>C (p.Lys1477Thr)
c.4058A>C (p.Lys1353Thr)
c.4214A>C (p.Lys1405Thr)
c.4421A>C (p.Lys1474Thr)
c.3722A>C (p.Lys1241Thr)
c.4469A>C (p.Lys1490Thr)
16g.3736736T>ACA394563729CREBBPc.4474A>T (p.Lys1492Ter)
c.4360A>T (p.Lys1454Ter)
c.3109A>T (p.Lys1037Ter)
n.264A>T
n.295A>T
n.3297A>T
c.4429A>T (p.Lys1477Ter)
c.4057A>T (p.Lys1353Ter)
c.4213A>T (p.Lys1405Ter)
c.4420A>T (p.Lys1474Ter)
c.3721A>T (p.Lys1241Ter)
c.4468A>T (p.Lys1490Ter)
dbSNP
16g.3736736T>CCA394563731CREBBPc.4474A>G (p.Lys1492Glu)
c.4360A>G (p.Lys1454Glu)
c.3109A>G (p.Lys1037Glu)
n.264A>G
n.295A>G
n.3297A>G
c.4429A>G (p.Lys1477Glu)
c.4057A>G (p.Lys1353Glu)
c.4213A>G (p.Lys1405Glu)
c.4420A>G (p.Lys1474Glu)
c.3721A>G (p.Lys1241Glu)
c.4468A>G (p.Lys1490Glu)
16g.3736736T>GCA394563735CREBBPc.4474A>C (p.Lys1492Gln)
c.4360A>C (p.Lys1454Gln)
c.3109A>C (p.Lys1037Gln)
n.264A>C
n.295A>C
n.3297A>C
c.4429A>C (p.Lys1477Gln)
c.4057A>C (p.Lys1353Gln)
c.4213A>C (p.Lys1405Gln)
c.4420A>C (p.Lys1474Gln)
c.3721A>C (p.Lys1241Gln)
c.4468A>C (p.Lys1490Gln)
16g.3736737T>ACA394563736CREBBPc.4473A>T (p.Gln1491His)
c.4359A>T (p.Gln1453His)
c.3108A>T (p.Gln1036His)
n.263A>T
n.294A>T
n.3296A>T
c.4428A>T (p.Gln1476His)
c.4056A>T (p.Gln1352His)
c.4212A>T (p.Gln1404His)
c.4419A>T (p.Gln1473His)
c.3720A>T (p.Gln1240His)
c.4467A>T (p.Gln1489His)
COSMIC
16g.3736737T>CCA493279407CREBBPc.4473A>G (p.Gln1491=)
c.4359A>G (p.Gln1453=)
c.3108A>G (p.Gln1036=)
n.263A>G
n.294A>G
n.3296A>G
c.4428A>G (p.Gln1476=)
c.4056A>G (p.Gln1352=)
c.4212A>G (p.Gln1404=)
c.4419A>G (p.Gln1473=)
c.3720A>G (p.Gln1240=)
c.4467A>G (p.Gln1489=)
dbSNP
16g.3736737T>GCA394563743CREBBPc.4473A>C (p.Gln1491His)
c.4359A>C (p.Gln1453His)
c.3108A>C (p.Gln1036His)
n.263A>C
n.294A>C
n.3296A>C
c.4428A>C (p.Gln1476His)
c.4056A>C (p.Gln1352His)
c.4212A>C (p.Gln1404His)
c.4419A>C (p.Gln1473His)
c.3720A>C (p.Gln1240His)
c.4467A>C (p.Gln1489His)
16g.3736737_3736739delCA645575177CREBBPc.4471_4473del (p.Gln1491del)
c.4357_4359del (p.Gln1453del)
c.3106_3108del (p.Gln1036del)
n.261_263del
n.292_294del
n.3294_3296del
c.4426_4428del (p.Gln1476del)
c.4054_4056del (p.Gln1352del)
c.4210_4212del (p.Gln1404del)
c.4417_4419del (p.Gln1473del)
c.3718_3720del (p.Gln1240del)
c.4465_4467del (p.Gln1489del)
COSMIC
16g.3736738T>ACA394563746CREBBPc.4472A>T (p.Gln1491Leu)
c.4358A>T (p.Gln1453Leu)
c.3107A>T (p.Gln1036Leu)
n.262A>T
n.293A>T
n.3295A>T
c.4427A>T (p.Gln1476Leu)
c.4055A>T (p.Gln1352Leu)
c.4211A>T (p.Gln1404Leu)
c.4418A>T (p.Gln1473Leu)
c.3719A>T (p.Gln1240Leu)
c.4466A>T (p.Gln1489Leu)
dbSNP
16g.3736738T>CCA394563752CREBBPc.4472A>G (p.Gln1491Arg)
c.4358A>G (p.Gln1453Arg)
c.3107A>G (p.Gln1036Arg)
n.262A>G
n.293A>G
n.3295A>G
c.4427A>G (p.Gln1476Arg)
c.4055A>G (p.Gln1352Arg)
c.4211A>G (p.Gln1404Arg)
c.4418A>G (p.Gln1473Arg)
c.3719A>G (p.Gln1240Arg)
c.4466A>G (p.Gln1489Arg)
16g.3736738T>GCA394563749CREBBPc.4472A>C (p.Gln1491Pro)
c.4358A>C (p.Gln1453Pro)
c.3107A>C (p.Gln1036Pro)
n.262A>C
n.293A>C
n.3295A>C
c.4427A>C (p.Gln1476Pro)
c.4055A>C (p.Gln1352Pro)
c.4211A>C (p.Gln1404Pro)
c.4418A>C (p.Gln1473Pro)
c.3719A>C (p.Gln1240Pro)
c.4466A>C (p.Gln1489Pro)
16g.3736739G>ACA394563756CREBBPc.4471C>T (p.Gln1491Ter)
c.4357C>T (p.Gln1453Ter)
c.3106C>T (p.Gln1036Ter)
n.261C>T
n.292C>T
n.3294C>T
c.4426C>T (p.Gln1476Ter)
c.4054C>T (p.Gln1352Ter)
c.4210C>T (p.Gln1404Ter)
c.4417C>T (p.Gln1473Ter)
c.3718C>T (p.Gln1240Ter)
c.4465C>T (p.Gln1489Ter)
ClinVar dbSNP
16g.3736739G>CCA394563759CREBBPc.4471C>G (p.Gln1491Glu)
c.4357C>G (p.Gln1453Glu)
c.3106C>G (p.Gln1036Glu)
n.261C>G
n.292C>G
n.3294C>G
c.4426C>G (p.Gln1476Glu)
c.4054C>G (p.Gln1352Glu)
c.4210C>G (p.Gln1404Glu)
c.4417C>G (p.Gln1473Glu)
c.3718C>G (p.Gln1240Glu)
c.4465C>G (p.Gln1489Glu)
dbSNP COSMIC
16g.3736739G=CA2202936661CREBBPc.4471C= (p.Gln1491=)
c.4357C= (p.Gln1453=)
c.3106C= (p.Gln1036=)
n.261C=
n.292C=
n.3294C=
c.4426C= (p.Gln1476=)
c.4054C= (p.Gln1352=)
c.4210C= (p.Gln1404=)
c.4417C= (p.Gln1473=)
c.3718C= (p.Gln1240=)
c.4465C= (p.Gln1489=)
16g.3736739G>TCA276980080CREBBPc.4471C>A (p.Gln1491Lys)
c.4357C>A (p.Gln1453Lys)
c.3106C>A (p.Gln1036Lys)
n.261C>A
n.292C>A
n.3294C>A
c.4426C>A (p.Gln1476Lys)
c.4054C>A (p.Gln1352Lys)
c.4210C>A (p.Gln1404Lys)
c.4417C>A (p.Gln1473Lys)
c.3718C>A (p.Gln1240Lys)
c.4465C>A (p.Gln1489Lys)
ClinVar dbSNP gnomAD v4
16g.3736740A>CCA394563764CREBBPc.4470T>G (p.Asp1490Glu)
c.4356T>G (p.Asp1452Glu)
c.3105T>G (p.Asp1035Glu)
n.260T>G
n.291T>G
n.3293T>G
c.4425T>G (p.Asp1475Glu)
c.4053T>G (p.Asp1351Glu)
c.4209T>G (p.Asp1403Glu)
c.4416T>G (p.Asp1472Glu)
c.3717T>G (p.Asp1239Glu)
c.4464T>G (p.Asp1488Glu)
16g.3736740A>GCA493279416CREBBPc.4470T>C (p.Asp1490=)
c.4356T>C (p.Asp1452=)
c.3105T>C (p.Asp1035=)
n.260T>C
n.291T>C
n.3293T>C
c.4425T>C (p.Asp1475=)
c.4053T>C (p.Asp1351=)
c.4209T>C (p.Asp1403=)
c.4416T>C (p.Asp1472=)
c.3717T>C (p.Asp1239=)
c.4464T>C (p.Asp1488=)
dbSNP
16g.3736740A>TCA394563767CREBBPc.4470T>A (p.Asp1490Glu)
c.4356T>A (p.Asp1452Glu)
c.3105T>A (p.Asp1035Glu)
n.260T>A
n.291T>A
n.3293T>A
c.4425T>A (p.Asp1475Glu)
c.4053T>A (p.Asp1351Glu)
c.4209T>A (p.Asp1403Glu)
c.4416T>A (p.Asp1472Glu)
c.3717T>A (p.Asp1239Glu)
c.4464T>A (p.Asp1488Glu)
dbSNP gnomAD v4
16g.3736741T>ACA394563771CREBBPc.4469A>T (p.Asp1490Val)
c.4355A>T (p.Asp1452Val)
c.3104A>T (p.Asp1035Val)
n.259A>T
n.290A>T
n.3292A>T
c.4424A>T (p.Asp1475Val)
c.4052A>T (p.Asp1351Val)
c.4208A>T (p.Asp1403Val)
c.4415A>T (p.Asp1472Val)
c.3716A>T (p.Asp1239Val)
c.4463A>T (p.Asp1488Val)
16g.3736741T>CCA394563773CREBBPc.4469A>G (p.Asp1490Gly)
c.4355A>G (p.Asp1452Gly)
c.3104A>G (p.Asp1035Gly)
n.259A>G
n.290A>G
n.3292A>G
c.4424A>G (p.Asp1475Gly)
c.4052A>G (p.Asp1351Gly)
c.4208A>G (p.Asp1403Gly)
c.4415A>G (p.Asp1472Gly)
c.3716A>G (p.Asp1239Gly)
c.4463A>G (p.Asp1488Gly)
16g.3736741T>GCA394563776CREBBPc.4469A>C (p.Asp1490Ala)
c.4355A>C (p.Asp1452Ala)
c.3104A>C (p.Asp1035Ala)
n.259A>C
n.290A>C
n.3292A>C
c.4424A>C (p.Asp1475Ala)
c.4052A>C (p.Asp1351Ala)
c.4208A>C (p.Asp1403Ala)
c.4415A>C (p.Asp1472Ala)
c.3716A>C (p.Asp1239Ala)
c.4463A>C (p.Asp1488Ala)
16g.3736742C>ACA394563779CREBBPc.4468G>T (p.Asp1490Tyr)
c.4354G>T (p.Asp1452Tyr)
c.3103G>T (p.Asp1035Tyr)
n.258G>T
n.289G>T
n.3291G>T
c.4423G>T (p.Asp1475Tyr)
c.4051G>T (p.Asp1351Tyr)
c.4207G>T (p.Asp1403Tyr)
c.4414G>T (p.Asp1472Tyr)
c.3715G>T (p.Asp1239Tyr)
c.4462G>T (p.Asp1488Tyr)
dbSNP gnomAD v4
16g.3736742C>GCA394563782CREBBPc.4468G>C (p.Asp1490His)
c.4354G>C (p.Asp1452His)
c.3103G>C (p.Asp1035His)
n.258G>C
n.289G>C
n.3291G>C
c.4423G>C (p.Asp1475His)
c.4051G>C (p.Asp1351His)
c.4207G>C (p.Asp1403His)
c.4414G>C (p.Asp1472His)
c.3715G>C (p.Asp1239His)
c.4462G>C (p.Asp1488His)
dbSNP
16g.3736742C>TCA394563785CREBBPc.4468G>A (p.Asp1490Asn)
c.4354G>A (p.Asp1452Asn)
c.3103G>A (p.Asp1035Asn)
n.258G>A
n.289G>A
n.3291G>A
c.4423G>A (p.Asp1475Asn)
c.4051G>A (p.Asp1351Asn)
c.4207G>A (p.Asp1403Asn)
c.4414G>A (p.Asp1472Asn)
c.3715G>A (p.Asp1239Asn)
c.4462G>A (p.Asp1488Asn)
dbSNP
16g.3736743A>CCA493279425CREBBPc.4467T>G (p.Pro1489=)
c.4353T>G (p.Pro1451=)
c.3102T>G (p.Pro1034=)
n.257T>G
n.288T>G
n.3290T>G
c.4422T>G (p.Pro1474=)
c.4050T>G (p.Pro1350=)
c.4206T>G (p.Pro1402=)
c.4413T>G (p.Pro1471=)
c.3714T>G (p.Pro1238=)
c.4461T>G (p.Pro1487=)
16g.3736743A>GCA493279427CREBBPc.4467T>C (p.Pro1489=)
c.4353T>C (p.Pro1451=)
c.3102T>C (p.Pro1034=)
n.257T>C
n.288T>C
n.3290T>C
c.4422T>C (p.Pro1474=)
c.4050T>C (p.Pro1350=)
c.4206T>C (p.Pro1402=)
c.4413T>C (p.Pro1471=)
c.3714T>C (p.Pro1238=)
c.4461T>C (p.Pro1487=)
dbSNP
16g.3736743A>TCA493279428CREBBPc.4467T>A (p.Pro1489=)
c.4353T>A (p.Pro1451=)
c.3102T>A (p.Pro1034=)
n.257T>A
n.288T>A
n.3290T>A
c.4422T>A (p.Pro1474=)
c.4050T>A (p.Pro1350=)
c.4206T>A (p.Pro1402=)
c.4413T>A (p.Pro1471=)
c.3714T>A (p.Pro1238=)
c.4461T>A (p.Pro1487=)
dbSNP
16g.3736744G>ACA394563791CREBBPc.4466C>T (p.Pro1489Leu)
c.4352C>T (p.Pro1451Leu)
c.3101C>T (p.Pro1034Leu)
n.256C>T
n.287C>T
n.3289C>T
c.4421C>T (p.Pro1474Leu)
c.4049C>T (p.Pro1350Leu)
c.4205C>T (p.Pro1402Leu)
c.4412C>T (p.Pro1471Leu)
c.3713C>T (p.Pro1238Leu)
c.4460C>T (p.Pro1487Leu)
dbSNP gnomAD v4
16g.3736744G>CCA394563794CREBBPc.4466C>G (p.Pro1489Arg)
c.4352C>G (p.Pro1451Arg)
c.3101C>G (p.Pro1034Arg)
n.256C>G
n.287C>G
n.3289C>G
c.4421C>G (p.Pro1474Arg)
c.4049C>G (p.Pro1350Arg)
c.4205C>G (p.Pro1402Arg)
c.4412C>G (p.Pro1471Arg)
c.3713C>G (p.Pro1238Arg)
c.4460C>G (p.Pro1487Arg)
dbSNP
16g.3736744G>TCA394563788CREBBPc.4466C>A (p.Pro1489His)
c.4352C>A (p.Pro1451His)
c.3101C>A (p.Pro1034His)
n.256C>A
n.287C>A
n.3289C>A
c.4421C>A (p.Pro1474His)
c.4049C>A (p.Pro1350His)
c.4205C>A (p.Pro1402His)
c.4412C>A (p.Pro1471His)
c.3713C>A (p.Pro1238His)
c.4460C>A (p.Pro1487His)
gnomAD v4
16g.3736745G>ACA394563798CREBBPc.4465C>T (p.Pro1489Ser)
c.4351C>T (p.Pro1451Ser)
c.3100C>T (p.Pro1034Ser)
n.255C>T
n.286C>T
n.3288C>T
c.4420C>T (p.Pro1474Ser)
c.4048C>T (p.Pro1350Ser)
c.4204C>T (p.Pro1402Ser)
c.4411C>T (p.Pro1471Ser)
c.3712C>T (p.Pro1238Ser)
c.4459C>T (p.Pro1487Ser)
dbSNP gnomAD v4
16g.3736745G>CCA394563799CREBBPc.4465C>G (p.Pro1489Ala)
c.4351C>G (p.Pro1451Ala)
c.3100C>G (p.Pro1034Ala)
n.255C>G
n.286C>G
n.3288C>G
c.4420C>G (p.Pro1474Ala)
c.4048C>G (p.Pro1350Ala)
c.4204C>G (p.Pro1402Ala)
c.4411C>G (p.Pro1471Ala)
c.3712C>G (p.Pro1238Ala)
c.4459C>G (p.Pro1487Ala)
ClinVar dbSNP
16g.3736745G=CA2202936664CREBBPc.4465C= (p.Pro1489=)
c.4351C= (p.Pro1451=)
c.3100C= (p.Pro1034=)
n.255C=
n.286C=
n.3288C=
c.4420C= (p.Pro1474=)
c.4048C= (p.Pro1350=)
c.4204C= (p.Pro1402=)
c.4411C= (p.Pro1471=)
c.3712C= (p.Pro1238=)
c.4459C= (p.Pro1487=)
16g.3736745G>TCA394563801CREBBPc.4465C>A (p.Pro1489Thr)
c.4351C>A (p.Pro1451Thr)
c.3100C>A (p.Pro1034Thr)
n.255C>A
n.286C>A
n.3288C>A
c.4420C>A (p.Pro1474Thr)
c.4048C>A (p.Pro1350Thr)
c.4204C>A (p.Pro1402Thr)
c.4411C>A (p.Pro1471Thr)
c.3712C>A (p.Pro1238Thr)
c.4459C>A (p.Pro1487Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3736746T>ACA493279437CREBBPc.4464A>T (p.Pro1488=)
c.4350A>T (p.Pro1450=)
c.3099A>T (p.Pro1033=)
n.254A>T
n.285A>T
n.3287A>T
c.4419A>T (p.Pro1473=)
c.4047A>T (p.Pro1349=)
c.4203A>T (p.Pro1401=)
c.4410A>T (p.Pro1470=)
c.3711A>T (p.Pro1237=)
c.4458A>T (p.Pro1486=)
16g.3736746T>CCA7869515CREBBPc.4464A>G (p.Pro1488=)
c.4350A>G (p.Pro1450=)
c.3099A>G (p.Pro1033=)
n.254A>G
n.285A>G
n.3287A>G
c.4419A>G (p.Pro1473=)
c.4047A>G (p.Pro1349=)
c.4203A>G (p.Pro1401=)
c.4410A>G (p.Pro1470=)
c.3711A>G (p.Pro1237=)
c.4458A>G (p.Pro1486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736746T>GCA493279439CREBBPc.4464A>C (p.Pro1488=)
c.4350A>C (p.Pro1450=)
c.3099A>C (p.Pro1033=)
n.254A>C
n.285A>C
n.3287A>C
c.4419A>C (p.Pro1473=)
c.4047A>C (p.Pro1349=)
c.4203A>C (p.Pro1401=)
c.4410A>C (p.Pro1470=)
c.3711A>C (p.Pro1237=)
c.4458A>C (p.Pro1486=)
16g.3736746T=CA2202936671CREBBPc.4464A= (p.Pro1488=)
c.4350A= (p.Pro1450=)
c.3099A= (p.Pro1033=)
n.254A=
n.285A=
n.3287A=
c.4419A= (p.Pro1473=)
c.4047A= (p.Pro1349=)
c.4203A= (p.Pro1401=)
c.4410A= (p.Pro1470=)
c.3711A= (p.Pro1237=)
c.4458A= (p.Pro1486=)
16g.3736747G>ACA394563806CREBBPc.4463C>T (p.Pro1488Leu)
c.4349C>T (p.Pro1450Leu)
c.3098C>T (p.Pro1033Leu)
n.253C>T
n.284C>T
n.3286C>T
c.4418C>T (p.Pro1473Leu)
c.4046C>T (p.Pro1349Leu)
c.4202C>T (p.Pro1401Leu)
c.4409C>T (p.Pro1470Leu)
c.3710C>T (p.Pro1237Leu)
c.4457C>T (p.Pro1486Leu)
dbSNP COSMIC
16g.3736747G>CCA394563808CREBBPc.4463C>G (p.Pro1488Arg)
c.4349C>G (p.Pro1450Arg)
c.3098C>G (p.Pro1033Arg)
n.253C>G
n.284C>G
n.3286C>G
c.4418C>G (p.Pro1473Arg)
c.4046C>G (p.Pro1349Arg)
c.4202C>G (p.Pro1401Arg)
c.4409C>G (p.Pro1470Arg)
c.3710C>G (p.Pro1237Arg)
c.4457C>G (p.Pro1486Arg)
dbSNP COSMIC
16g.3736747G>TCA394563811CREBBPc.4463C>A (p.Pro1488Gln)
c.4349C>A (p.Pro1450Gln)
c.3098C>A (p.Pro1033Gln)
n.253C>A
n.284C>A
n.3286C>A
c.4418C>A (p.Pro1473Gln)
c.4046C>A (p.Pro1349Gln)
c.4202C>A (p.Pro1401Gln)
c.4409C>A (p.Pro1470Gln)
c.3710C>A (p.Pro1237Gln)
c.4457C>A (p.Pro1486Gln)
COSMIC
16g.3736748G>ACA394563815CREBBPc.4462C>T (p.Pro1488Ser)
c.4348C>T (p.Pro1450Ser)
c.3097C>T (p.Pro1033Ser)
n.252C>T
n.283C>T
n.3285C>T
c.4417C>T (p.Pro1473Ser)
c.4045C>T (p.Pro1349Ser)
c.4201C>T (p.Pro1401Ser)
c.4408C>T (p.Pro1470Ser)
c.3709C>T (p.Pro1237Ser)
c.4456C>T (p.Pro1486Ser)
dbSNP
16g.3736748G>CCA394563817CREBBPc.4462C>G (p.Pro1488Ala)
c.4348C>G (p.Pro1450Ala)
c.3097C>G (p.Pro1033Ala)
n.252C>G
n.283C>G
n.3285C>G
c.4417C>G (p.Pro1473Ala)
c.4045C>G (p.Pro1349Ala)
c.4201C>G (p.Pro1401Ala)
c.4408C>G (p.Pro1470Ala)
c.3709C>G (p.Pro1237Ala)
c.4456C>G (p.Pro1486Ala)
dbSNP
16g.3736748G>TCA394563820CREBBPc.4462C>A (p.Pro1488Thr)
c.4348C>A (p.Pro1450Thr)
c.3097C>A (p.Pro1033Thr)
n.252C>A
n.283C>A
n.3285C>A
c.4417C>A (p.Pro1473Thr)
c.4045C>A (p.Pro1349Thr)
c.4201C>A (p.Pro1401Thr)
c.4408C>A (p.Pro1470Thr)
c.3709C>A (p.Pro1237Thr)
c.4456C>A (p.Pro1486Thr)
dbSNP
16g.3736749G>ACA493279448CREBBPc.4461C>T (p.His1487=)
c.4347C>T (p.His1449=)
c.3096C>T (p.His1032=)
n.251C>T
n.282C>T
n.3284C>T
c.4416C>T (p.His1472=)
c.4044C>T (p.His1348=)
c.4200C>T (p.His1400=)
c.4407C>T (p.His1469=)
c.3708C>T (p.His1236=)
c.4455C>T (p.His1485=)
dbSNP gnomAD v4
16g.3736749G>CCA394563822CREBBPc.4461C>G (p.His1487Gln)
c.4347C>G (p.His1449Gln)
c.3096C>G (p.His1032Gln)
n.251C>G
n.282C>G
n.3284C>G
c.4416C>G (p.His1472Gln)
c.4044C>G (p.His1348Gln)
c.4200C>G (p.His1400Gln)
c.4407C>G (p.His1469Gln)
c.3708C>G (p.His1236Gln)
c.4455C>G (p.His1485Gln)
dbSNP
16g.3736749G=CA2202936675CREBBPc.4461C= (p.His1487=)
c.4347C= (p.His1449=)
c.3096C= (p.His1032=)
n.251C=
n.282C=
n.3284C=
c.4416C= (p.His1472=)
c.4044C= (p.His1348=)
c.4200C= (p.His1400=)
c.4407C= (p.His1469=)
c.3708C= (p.His1236=)
c.4455C= (p.His1485=)
16g.3736749G>TCA394563823CREBBPc.4461C>A (p.His1487Gln)
c.4347C>A (p.His1449Gln)
c.3096C>A (p.His1032Gln)
n.251C>A
n.282C>A
n.3284C>A
c.4416C>A (p.His1472Gln)
c.4044C>A (p.His1348Gln)
c.4200C>A (p.His1400Gln)
c.4407C>A (p.His1469Gln)
c.3708C>A (p.His1236Gln)
c.4455C>A (p.His1485Gln)
16g.3736750T>ACA394563831CREBBPc.4460A>T (p.His1487Leu)
c.4346A>T (p.His1449Leu)
c.3095A>T (p.His1032Leu)
n.250A>T
n.281A>T
n.3283A>T
c.4415A>T (p.His1472Leu)
c.4043A>T (p.His1348Leu)
c.4199A>T (p.His1400Leu)
c.4406A>T (p.His1469Leu)
c.3707A>T (p.His1236Leu)
c.4454A>T (p.His1485Leu)
16g.3736750T>CCA394563830CREBBPc.4460A>G (p.His1487Arg)
c.4346A>G (p.His1449Arg)
c.3095A>G (p.His1032Arg)
n.250A>G
n.281A>G
n.3283A>G
c.4415A>G (p.His1472Arg)
c.4043A>G (p.His1348Arg)
c.4199A>G (p.His1400Arg)
c.4406A>G (p.His1469Arg)
c.3707A>G (p.His1236Arg)
c.4454A>G (p.His1485Arg)
ClinVar dbSNP
16g.3736750T>GCA394563826CREBBPc.4460A>C (p.His1487Pro)
c.4346A>C (p.His1449Pro)
c.3095A>C (p.His1032Pro)
n.250A>C
n.281A>C
n.3283A>C
c.4415A>C (p.His1472Pro)
c.4043A>C (p.His1348Pro)
c.4199A>C (p.His1400Pro)
c.4406A>C (p.His1469Pro)
c.3707A>C (p.His1236Pro)
c.4454A>C (p.His1485Pro)
16g.3736750T=CA2202936678CREBBPc.4460A= (p.His1487=)
c.4346A= (p.His1449=)
c.3095A= (p.His1032=)
n.250A=
n.281A=
n.3283A=
c.4415A= (p.His1472=)
c.4043A= (p.His1348=)
c.4199A= (p.His1400=)
c.4406A= (p.His1469=)
c.3707A= (p.His1236=)
c.4454A= (p.His1485=)
16g.3736751G>ACA16043855CREBBPc.4459C>T (p.His1487Tyr)
c.4345C>T (p.His1449Tyr)
c.3094C>T (p.His1032Tyr)
n.249C>T
n.280C>T
n.3282C>T
c.4414C>T (p.His1472Tyr)
c.4042C>T (p.His1348Tyr)
c.4198C>T (p.His1400Tyr)
c.4405C>T (p.His1469Tyr)
c.3706C>T (p.His1236Tyr)
c.4453C>T (p.His1485Tyr)
ClinVar dbSNP COSMIC
16g.3736751G>CCA394563844CREBBPc.4459C>G (p.His1487Asp)
c.4345C>G (p.His1449Asp)
c.3094C>G (p.His1032Asp)
n.249C>G
n.280C>G
n.3282C>G
c.4414C>G (p.His1472Asp)
c.4042C>G (p.His1348Asp)
c.4198C>G (p.His1400Asp)
c.4405C>G (p.His1469Asp)
c.3706C>G (p.His1236Asp)
c.4453C>G (p.His1485Asp)
16g.3736751G=CA2202936681CREBBPc.4459C= (p.His1487=)
c.4345C= (p.His1449=)
c.3094C= (p.His1032=)
n.249C=
n.280C=
n.3282C=
c.4414C= (p.His1472=)
c.4042C= (p.His1348=)
c.4198C= (p.His1400=)
c.4405C= (p.His1469=)
c.3706C= (p.His1236=)
c.4453C= (p.His1485=)
16g.3736751G>TCA394563847CREBBPc.4459C>A (p.His1487Asn)
c.4345C>A (p.His1449Asn)
c.3094C>A (p.His1032Asn)
n.249C>A
n.280C>A
n.3282C>A
c.4414C>A (p.His1472Asn)
c.4042C>A (p.His1348Asn)
c.4198C>A (p.His1400Asn)
c.4405C>A (p.His1469Asn)
c.3706C>A (p.His1236Asn)
c.4453C>A (p.His1485Asn)
dbSNP COSMIC
16g.3736751_3736752insACA915949072CREBBPc.4458_4459insT (p.His1487SerfsTer4)
c.4344_4345insT (p.His1449SerfsTer4)
c.3093_3094insT (p.His1032SerfsTer4)
n.248_249insT
n.279_280insT
n.3281_3282insT
c.4413_4414insT (p.His1472SerfsTer4)
c.4041_4042insT (p.His1348SerfsTer4)
c.4197_4198insT (p.His1400SerfsTer4)
c.4404_4405insT (p.His1469SerfsTer4)
c.3705_3706insT (p.His1236SerfsTer4)
c.4452_4453insT (p.His1485SerfsTer4)
ClinVar dbSNP
16g.3736752G>ACA276980085CREBBPc.4458C>T (p.Cys1486=)
c.4344C>T (p.Cys1448=)
c.3093C>T (p.Cys1031=)
n.248C>T
n.279C>T
n.3281C>T
c.4413C>T (p.Cys1471=)
c.4041C>T (p.Cys1347=)
c.4197C>T (p.Cys1399=)
c.4404C>T (p.Cys1468=)
c.3705C>T (p.Cys1235=)
c.4452C>T (p.Cys1484=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3736752G>CCA394563852CREBBPc.4458C>G (p.Cys1486Trp)
c.4344C>G (p.Cys1448Trp)
c.3093C>G (p.Cys1031Trp)
n.248C>G
n.279C>G
n.3281C>G
c.4413C>G (p.Cys1471Trp)
c.4041C>G (p.Cys1347Trp)
c.4197C>G (p.Cys1399Trp)
c.4404C>G (p.Cys1468Trp)
c.3705C>G (p.Cys1235Trp)
c.4452C>G (p.Cys1484Trp)
16g.3736752G=CA2202936683CREBBPc.4458C= (p.Cys1486=)
c.4344C= (p.Cys1448=)
c.3093C= (p.Cys1031=)
n.248C=
n.279C=
n.3281C=
c.4413C= (p.Cys1471=)
c.4041C= (p.Cys1347=)
c.4197C= (p.Cys1399=)
c.4404C= (p.Cys1468=)
c.3705C= (p.Cys1235=)
c.4452C= (p.Cys1484=)
16g.3736752G>TCA394563854CREBBPc.4458C>A (p.Cys1486Ter)
c.4344C>A (p.Cys1448Ter)
c.3093C>A (p.Cys1031Ter)
n.248C>A
n.279C>A
n.3281C>A
c.4413C>A (p.Cys1471Ter)
c.4041C>A (p.Cys1347Ter)
c.4197C>A (p.Cys1399Ter)
c.4404C>A (p.Cys1468Ter)
c.3705C>A (p.Cys1235Ter)
c.4452C>A (p.Cys1484Ter)
16g.3736752_3736753delCA2697549650CREBBPc.4457_4458del (p.Cys1486SerfsTer4)
c.4343_4344del (p.Cys1448SerfsTer4)
c.3092_3093del (p.Cys1031SerfsTer4)
n.247_248del
n.278_279del
n.3280_3281del
c.4412_4413del (p.Cys1471SerfsTer4)
c.4040_4041del (p.Cys1347SerfsTer4)
c.4196_4197del (p.Cys1399SerfsTer4)
c.4403_4404del (p.Cys1468SerfsTer4)
c.3704_3705del (p.Cys1235SerfsTer4)
c.4451_4452del (p.Cys1484SerfsTer4)
ClinVar
16g.3736753C>ACA394563856CREBBPc.4457G>T (p.Cys1486Phe)
c.4343G>T (p.Cys1448Phe)
c.3092G>T (p.Cys1031Phe)
n.247G>T
n.278G>T
n.3280G>T
c.4412G>T (p.Cys1471Phe)
c.4040G>T (p.Cys1347Phe)
c.4196G>T (p.Cys1399Phe)
c.4403G>T (p.Cys1468Phe)
c.3704G>T (p.Cys1235Phe)
c.4451G>T (p.Cys1484Phe)
16g.3736753C>GCA394563857CREBBPc.4457G>C (p.Cys1486Ser)
c.4343G>C (p.Cys1448Ser)
c.3092G>C (p.Cys1031Ser)
n.247G>C
n.278G>C
n.3280G>C
c.4412G>C (p.Cys1471Ser)
c.4040G>C (p.Cys1347Ser)
c.4196G>C (p.Cys1399Ser)
c.4403G>C (p.Cys1468Ser)
c.3704G>C (p.Cys1235Ser)
c.4451G>C (p.Cys1484Ser)
16g.3736753C>TCA394563860CREBBPc.4457G>A (p.Cys1486Tyr)
c.4343G>A (p.Cys1448Tyr)
c.3092G>A (p.Cys1031Tyr)
n.247G>A
n.278G>A
n.3280G>A
c.4412G>A (p.Cys1471Tyr)
c.4040G>A (p.Cys1347Tyr)
c.4196G>A (p.Cys1399Tyr)
c.4403G>A (p.Cys1468Tyr)
c.3704G>A (p.Cys1235Tyr)
c.4451G>A (p.Cys1484Tyr)
dbSNP
16g.3736754A>CCA394563862CREBBPc.4456T>G (p.Cys1486Gly)
c.4342T>G (p.Cys1448Gly)
c.3091T>G (p.Cys1031Gly)
n.246T>G
n.277T>G
n.3279T>G
c.4411T>G (p.Cys1471Gly)
c.4039T>G (p.Cys1347Gly)
c.4195T>G (p.Cys1399Gly)
c.4402T>G (p.Cys1468Gly)
c.3703T>G (p.Cys1235Gly)
c.4450T>G (p.Cys1484Gly)
16g.3736754A>GCA394563864CREBBPc.4456T>C (p.Cys1486Arg)
c.4342T>C (p.Cys1448Arg)
c.3091T>C (p.Cys1031Arg)
n.246T>C
n.277T>C
n.3279T>C
c.4411T>C (p.Cys1471Arg)
c.4039T>C (p.Cys1347Arg)
c.4195T>C (p.Cys1399Arg)
c.4402T>C (p.Cys1468Arg)
c.3703T>C (p.Cys1235Arg)
c.4450T>C (p.Cys1484Arg)
dbSNP
16g.3736754A>TCA394563866CREBBPc.4456T>A (p.Cys1486Ser)
c.4342T>A (p.Cys1448Ser)
c.3091T>A (p.Cys1031Ser)
n.246T>A
n.277T>A
n.3279T>A
c.4411T>A (p.Cys1471Ser)
c.4039T>A (p.Cys1347Ser)
c.4195T>A (p.Cys1399Ser)
c.4402T>A (p.Cys1468Ser)
c.3703T>A (p.Cys1235Ser)
c.4450T>A (p.Cys1484Ser)
dbSNP
16g.3736755A>CCA394563868CREBBPc.4455T>G (p.His1485Gln)
c.4341T>G (p.His1447Gln)
c.3090T>G (p.His1030Gln)
n.245T>G
n.276T>G
n.3278T>G
c.4410T>G (p.His1470Gln)
c.4038T>G (p.His1346Gln)
c.4194T>G (p.His1398Gln)
c.4401T>G (p.His1467Gln)
c.3702T>G (p.His1234Gln)
c.4449T>G (p.His1483Gln)
16g.3736755A>GCA493279470CREBBPc.4455T>C (p.His1485=)
c.4341T>C (p.His1447=)
c.3090T>C (p.His1030=)
n.245T>C
n.276T>C
n.3278T>C
c.4410T>C (p.His1470=)
c.4038T>C (p.His1346=)
c.4194T>C (p.His1398=)
c.4401T>C (p.His1467=)
c.3702T>C (p.His1234=)
c.4449T>C (p.His1483=)
COSMIC
16g.3736755A>TCA394563869CREBBPc.4455T>A (p.His1485Gln)
c.4341T>A (p.His1447Gln)
c.3090T>A (p.His1030Gln)
n.245T>A
n.276T>A
n.3278T>A
c.4410T>A (p.His1470Gln)
c.4038T>A (p.His1346Gln)
c.4194T>A (p.His1398Gln)
c.4401T>A (p.His1467Gln)
c.3702T>A (p.His1234Gln)
c.4449T>A (p.His1483Gln)
dbSNP
16g.3736756T>ACA394563871CREBBPc.4454A>T (p.His1485Leu)
c.4340A>T (p.His1447Leu)
c.3089A>T (p.His1030Leu)
n.244A>T
n.275A>T
n.3277A>T
c.4409A>T (p.His1470Leu)
c.4037A>T (p.His1346Leu)
c.4193A>T (p.His1398Leu)
c.4400A>T (p.His1467Leu)
c.3701A>T (p.His1234Leu)
c.4448A>T (p.His1483Leu)
16g.3736756T>CCA394563873CREBBPc.4454A>G (p.His1485Arg)
c.4340A>G (p.His1447Arg)
c.3089A>G (p.His1030Arg)
n.244A>G
n.275A>G
n.3277A>G
c.4409A>G (p.His1470Arg)
c.4037A>G (p.His1346Arg)
c.4193A>G (p.His1398Arg)
c.4400A>G (p.His1467Arg)
c.3701A>G (p.His1234Arg)
c.4448A>G (p.His1483Arg)
16g.3736756T>GCA394563870CREBBPc.4454A>C (p.His1485Pro)
c.4340A>C (p.His1447Pro)
c.3089A>C (p.His1030Pro)
n.244A>C
n.275A>C
n.3277A>C
c.4409A>C (p.His1470Pro)
c.4037A>C (p.His1346Pro)
c.4193A>C (p.His1398Pro)
c.4400A>C (p.His1467Pro)
c.3701A>C (p.His1234Pro)
c.4448A>C (p.His1483Pro)
16g.3736757G>ACA394563876CREBBPc.4453C>T (p.His1485Tyr)
c.4339C>T (p.His1447Tyr)
c.3088C>T (p.His1030Tyr)
n.243C>T
n.274C>T
n.3276C>T
c.4408C>T (p.His1470Tyr)
c.4036C>T (p.His1346Tyr)
c.4192C>T (p.His1398Tyr)
c.4399C>T (p.His1467Tyr)
c.3700C>T (p.His1234Tyr)
c.4447C>T (p.His1483Tyr)
16g.3736757G>CCA394563878CREBBPc.4453C>G (p.His1485Asp)
c.4339C>G (p.His1447Asp)
c.3088C>G (p.His1030Asp)
n.243C>G
n.274C>G
n.3276C>G
c.4408C>G (p.His1470Asp)
c.4036C>G (p.His1346Asp)
c.4192C>G (p.His1398Asp)
c.4399C>G (p.His1467Asp)
c.3700C>G (p.His1234Asp)
c.4447C>G (p.His1483Asp)
16g.3736757G>TCA394563880CREBBPc.4453C>A (p.His1485Asn)
c.4339C>A (p.His1447Asn)
c.3088C>A (p.His1030Asn)
n.243C>A
n.274C>A
n.3276C>A
c.4408C>A (p.His1470Asn)
c.4036C>A (p.His1346Asn)
c.4192C>A (p.His1398Asn)
c.4399C>A (p.His1467Asn)
c.3700C>A (p.His1234Asn)
c.4447C>A (p.His1483Asn)
gnomAD v4
16g.3736758G>ACA7869516CREBBPc.4452C>T (p.Phe1484=)
c.4338C>T (p.Phe1446=)
c.3087C>T (p.Phe1029=)
n.242C>T
n.273C>T
n.3275C>T
c.4407C>T (p.Phe1469=)
c.4035C>T (p.Phe1345=)
c.4191C>T (p.Phe1397=)
c.4398C>T (p.Phe1466=)
c.3699C>T (p.Phe1233=)
c.4446C>T (p.Phe1482=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736758G>CCA394563883CREBBPc.4452C>G (p.Phe1484Leu)
c.4338C>G (p.Phe1446Leu)
c.3087C>G (p.Phe1029Leu)
n.242C>G
n.273C>G
n.3275C>G
c.4407C>G (p.Phe1469Leu)
c.4035C>G (p.Phe1345Leu)
c.4191C>G (p.Phe1397Leu)
c.4398C>G (p.Phe1466Leu)
c.3699C>G (p.Phe1233Leu)
c.4446C>G (p.Phe1482Leu)
dbSNP
16g.3736758G=CA2202936685CREBBPc.4452C= (p.Phe1484=)
c.4338C= (p.Phe1446=)
c.3087C= (p.Phe1029=)
n.242C=
n.273C=
n.3275C=
c.4407C= (p.Phe1469=)
c.4035C= (p.Phe1345=)
c.4191C= (p.Phe1397=)
c.4398C= (p.Phe1466=)
c.3699C= (p.Phe1233=)
c.4446C= (p.Phe1482=)
16g.3736758G>TCA394563885CREBBPc.4452C>A (p.Phe1484Leu)
c.4338C>A (p.Phe1446Leu)
c.3087C>A (p.Phe1029Leu)
n.242C>A
n.273C>A
n.3275C>A
c.4407C>A (p.Phe1469Leu)
c.4035C>A (p.Phe1345Leu)
c.4191C>A (p.Phe1397Leu)
c.4398C>A (p.Phe1466Leu)
c.3699C>A (p.Phe1233Leu)
c.4446C>A (p.Phe1482Leu)
dbSNP
16g.3736759A>CCA394563887CREBBPc.4451T>G (p.Phe1484Cys)
c.4337T>G (p.Phe1446Cys)
c.3086T>G (p.Phe1029Cys)
n.241T>G
n.272T>G
n.3274T>G
c.4406T>G (p.Phe1469Cys)
c.4034T>G (p.Phe1345Cys)
c.4190T>G (p.Phe1397Cys)
c.4397T>G (p.Phe1466Cys)
c.3698T>G (p.Phe1233Cys)
c.4445T>G (p.Phe1482Cys)
COSMIC
16g.3736759A>GCA394563889CREBBPc.4451T>C (p.Phe1484Ser)
c.4337T>C (p.Phe1446Ser)
c.3086T>C (p.Phe1029Ser)
n.241T>C
n.272T>C
n.3274T>C
c.4406T>C (p.Phe1469Ser)
c.4034T>C (p.Phe1345Ser)
c.4190T>C (p.Phe1397Ser)
c.4397T>C (p.Phe1466Ser)
c.3698T>C (p.Phe1233Ser)
c.4445T>C (p.Phe1482Ser)
16g.3736759A>TCA394563890CREBBPc.4451T>A (p.Phe1484Tyr)
c.4337T>A (p.Phe1446Tyr)
c.3086T>A (p.Phe1029Tyr)
n.241T>A
n.272T>A
n.3274T>A
c.4406T>A (p.Phe1469Tyr)
c.4034T>A (p.Phe1345Tyr)
c.4190T>A (p.Phe1397Tyr)
c.4397T>A (p.Phe1466Tyr)
c.3698T>A (p.Phe1233Tyr)
c.4445T>A (p.Phe1482Tyr)
16g.3736760A>CCA394563893CREBBPc.4450T>G (p.Phe1484Val)
c.4336T>G (p.Phe1446Val)
c.3085T>G (p.Phe1029Val)
n.240T>G
n.271T>G
n.3273T>G
c.4405T>G (p.Phe1469Val)
c.4033T>G (p.Phe1345Val)
c.4189T>G (p.Phe1397Val)
c.4396T>G (p.Phe1466Val)
c.3697T>G (p.Phe1233Val)
c.4444T>G (p.Phe1482Val)
COSMIC
16g.3736760A>GCA394563894CREBBPc.4450T>C (p.Phe1484Leu)
c.4336T>C (p.Phe1446Leu)
c.3085T>C (p.Phe1029Leu)
n.240T>C
n.271T>C
n.3273T>C
c.4405T>C (p.Phe1469Leu)
c.4033T>C (p.Phe1345Leu)
c.4189T>C (p.Phe1397Leu)
c.4396T>C (p.Phe1466Leu)
c.3697T>C (p.Phe1233Leu)
c.4444T>C (p.Phe1482Leu)
16g.3736760A>TCA394563896CREBBPc.4450T>A (p.Phe1484Ile)
c.4336T>A (p.Phe1446Ile)
c.3085T>A (p.Phe1029Ile)
n.240T>A
n.271T>A
n.3273T>A
c.4405T>A (p.Phe1469Ile)
c.4033T>A (p.Phe1345Ile)
c.4189T>A (p.Phe1397Ile)
c.4396T>A (p.Phe1466Ile)
c.3697T>A (p.Phe1233Ile)
c.4444T>A (p.Phe1482Ile)
dbSNP
16g.3736761G>ACA493279495CREBBPc.4449C>T (p.Ile1483=)
c.4335C>T (p.Ile1445=)
c.3084C>T (p.Ile1028=)
n.239C>T
n.270C>T
n.3272C>T
c.4404C>T (p.Ile1468=)
c.4032C>T (p.Ile1344=)
c.4188C>T (p.Ile1396=)
c.4395C>T (p.Ile1465=)
c.3696C>T (p.Ile1232=)
c.4443C>T (p.Ile1481=)
dbSNP
16g.3736761G>CCA394563898CREBBPc.4449C>G (p.Ile1483Met)
c.4335C>G (p.Ile1445Met)
c.3084C>G (p.Ile1028Met)
n.239C>G
n.270C>G
n.3272C>G
c.4404C>G (p.Ile1468Met)
c.4032C>G (p.Ile1344Met)
c.4188C>G (p.Ile1396Met)
c.4395C>G (p.Ile1465Met)
c.3696C>G (p.Ile1232Met)
c.4443C>G (p.Ile1481Met)
dbSNP
16g.3736761G=CA2202936686CREBBPc.4449C= (p.Ile1483=)
c.4335C= (p.Ile1445=)
c.3084C= (p.Ile1028=)
n.239C=
n.270C=
n.3272C=
c.4404C= (p.Ile1468=)
c.4032C= (p.Ile1344=)
c.4188C= (p.Ile1396=)
c.4395C= (p.Ile1465=)
c.3696C= (p.Ile1232=)
c.4443C= (p.Ile1481=)
16g.3736761G>TCA493279498CREBBPc.4449C>A (p.Ile1483=)
c.4335C>A (p.Ile1445=)
c.3084C>A (p.Ile1028=)
n.239C>A
n.270C>A
n.3272C>A
c.4404C>A (p.Ile1468=)
c.4032C>A (p.Ile1344=)
c.4188C>A (p.Ile1396=)
c.4395C>A (p.Ile1465=)
c.3696C>A (p.Ile1232=)
c.4443C>A (p.Ile1481=)
dbSNP
16g.3736762A=CA2202936687CREBBPc.4448T= (p.Ile1483=)
c.4334T= (p.Ile1445=)
c.3083T= (p.Ile1028=)
n.238T=
n.269T=
n.3271T=
c.4403T= (p.Ile1468=)
c.4031T= (p.Ile1344=)
c.4187T= (p.Ile1396=)
c.4394T= (p.Ile1465=)
c.3695T= (p.Ile1232=)
c.4442T= (p.Ile1481=)
16g.3736762A>CCA394563902CREBBPc.4448T>G (p.Ile1483Ser)
c.4334T>G (p.Ile1445Ser)
c.3083T>G (p.Ile1028Ser)
n.238T>G
n.269T>G
n.3271T>G
c.4403T>G (p.Ile1468Ser)
c.4031T>G (p.Ile1344Ser)
c.4187T>G (p.Ile1396Ser)
c.4394T>G (p.Ile1465Ser)
c.3695T>G (p.Ile1232Ser)
c.4442T>G (p.Ile1481Ser)
COSMIC
16g.3736762A>GCA276980092CREBBPc.4448T>C (p.Ile1483Thr)
c.4334T>C (p.Ile1445Thr)
c.3083T>C (p.Ile1028Thr)
n.238T>C
n.269T>C
n.3271T>C
c.4403T>C (p.Ile1468Thr)
c.4031T>C (p.Ile1344Thr)
c.4187T>C (p.Ile1396Thr)
c.4394T>C (p.Ile1465Thr)
c.3695T>C (p.Ile1232Thr)
c.4442T>C (p.Ile1481Thr)
dbSNP COSMIC
16g.3736762A>TCA394563900CREBBPc.4448T>A (p.Ile1483Asn)
c.4334T>A (p.Ile1445Asn)
c.3083T>A (p.Ile1028Asn)
n.238T>A
n.269T>A
n.3271T>A
c.4403T>A (p.Ile1468Asn)
c.4031T>A (p.Ile1344Asn)
c.4187T>A (p.Ile1396Asn)
c.4394T>A (p.Ile1465Asn)
c.3695T>A (p.Ile1232Asn)
c.4442T>A (p.Ile1481Asn)
dbSNP COSMIC
16g.3736763T>ACA394563904CREBBPc.4447A>T (p.Ile1483Phe)
c.4333A>T (p.Ile1445Phe)
c.3082A>T (p.Ile1028Phe)
n.237A>T
n.268A>T
n.3270A>T
c.4402A>T (p.Ile1468Phe)
c.4030A>T (p.Ile1344Phe)
c.4186A>T (p.Ile1396Phe)
c.4393A>T (p.Ile1465Phe)
c.3694A>T (p.Ile1232Phe)
c.4441A>T (p.Ile1481Phe)
COSMIC
16g.3736763T>CCA394563905CREBBPc.4447A>G (p.Ile1483Val)
c.4333A>G (p.Ile1445Val)
c.3082A>G (p.Ile1028Val)
n.237A>G
n.268A>G
n.3270A>G
c.4402A>G (p.Ile1468Val)
c.4030A>G (p.Ile1344Val)
c.4186A>G (p.Ile1396Val)
c.4393A>G (p.Ile1465Val)
c.3694A>G (p.Ile1232Val)
c.4441A>G (p.Ile1481Val)
dbSNP gnomAD v4
16g.3736763T>GCA394563908CREBBPc.4447A>C (p.Ile1483Leu)
c.4333A>C (p.Ile1445Leu)
c.3082A>C (p.Ile1028Leu)
n.237A>C
n.268A>C
n.3270A>C
c.4402A>C (p.Ile1468Leu)
c.4030A>C (p.Ile1344Leu)
c.4186A>C (p.Ile1396Leu)
c.4393A>C (p.Ile1465Leu)
c.3694A>C (p.Ile1232Leu)
c.4441A>C (p.Ile1481Leu)
16g.3736764G>ACA7869517CREBBPc.4446C>T (p.Tyr1482=)
c.4332C>T (p.Tyr1444=)
c.3081C>T (p.Tyr1027=)
n.236C>T
n.267C>T
n.3269C>T
c.4401C>T (p.Tyr1467=)
c.4029C>T (p.Tyr1343=)
c.4185C>T (p.Tyr1395=)
c.4392C>T (p.Tyr1464=)
c.3693C>T (p.Tyr1231=)
c.4440C>T (p.Tyr1480=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736764G>CCA394563910CREBBPc.4446C>G (p.Tyr1482Ter)
c.4332C>G (p.Tyr1444Ter)
c.3081C>G (p.Tyr1027Ter)
n.236C>G
n.267C>G
n.3269C>G
c.4401C>G (p.Tyr1467Ter)
c.4029C>G (p.Tyr1343Ter)
c.4185C>G (p.Tyr1395Ter)
c.4392C>G (p.Tyr1464Ter)
c.3693C>G (p.Tyr1231Ter)
c.4440C>G (p.Tyr1480Ter)
dbSNP
16g.3736764G=CA2202936689CREBBPc.4446C= (p.Tyr1482=)
c.4332C= (p.Tyr1444=)
c.3081C= (p.Tyr1027=)
n.236C=
n.267C=
n.3269C=
c.4401C= (p.Tyr1467=)
c.4029C= (p.Tyr1343=)
c.4185C= (p.Tyr1395=)
c.4392C= (p.Tyr1464=)
c.3693C= (p.Tyr1231=)
c.4440C= (p.Tyr1480=)
16g.3736764G>TCA394563913CREBBPc.4446C>A (p.Tyr1482Ter)
c.4332C>A (p.Tyr1444Ter)
c.3081C>A (p.Tyr1027Ter)
n.236C>A
n.267C>A
n.3269C>A
c.4401C>A (p.Tyr1467Ter)
c.4029C>A (p.Tyr1343Ter)
c.4185C>A (p.Tyr1395Ter)
c.4392C>A (p.Tyr1464Ter)
c.3693C>A (p.Tyr1231Ter)
c.4440C>A (p.Tyr1480Ter)
16g.3736765T>ACA394563915CREBBPc.4445A>T (p.Tyr1482Phe)
c.4331A>T (p.Tyr1444Phe)
c.3080A>T (p.Tyr1027Phe)
n.235A>T
n.266A>T
n.3268A>T
c.4400A>T (p.Tyr1467Phe)
c.4028A>T (p.Tyr1343Phe)
c.4184A>T (p.Tyr1395Phe)
c.4391A>T (p.Tyr1464Phe)
c.3692A>T (p.Tyr1231Phe)
c.4439A>T (p.Tyr1480Phe)
16g.3736765T>CCA271417CREBBPc.4445A>G (p.Tyr1482Cys)
c.4331A>G (p.Tyr1444Cys)
c.3080A>G (p.Tyr1027Cys)
n.235A>G
n.266A>G
n.3268A>G
c.4400A>G (p.Tyr1467Cys)
c.4028A>G (p.Tyr1343Cys)
c.4184A>G (p.Tyr1395Cys)
c.4391A>G (p.Tyr1464Cys)
c.3692A>G (p.Tyr1231Cys)
c.4439A>G (p.Tyr1480Cys)
ClinVar dbSNP COSMIC
16g.3736765T>GCA394563918CREBBPc.4445A>C (p.Tyr1482Ser)
c.4331A>C (p.Tyr1444Ser)
c.3080A>C (p.Tyr1027Ser)
n.235A>C
n.266A>C
n.3268A>C
c.4400A>C (p.Tyr1467Ser)
c.4028A>C (p.Tyr1343Ser)
c.4184A>C (p.Tyr1395Ser)
c.4391A>C (p.Tyr1464Ser)
c.3692A>C (p.Tyr1231Ser)
c.4439A>C (p.Tyr1480Ser)
dbSNP COSMIC
16g.3736765T=CA2202936692CREBBPc.4445A= (p.Tyr1482=)
c.4331A= (p.Tyr1444=)
c.3080A= (p.Tyr1027=)
n.235A=
n.266A=
n.3268A=
c.4400A= (p.Tyr1467=)
c.4028A= (p.Tyr1343=)
c.4184A= (p.Tyr1395=)
c.4391A= (p.Tyr1464=)
c.3692A= (p.Tyr1231=)
c.4439A= (p.Tyr1480=)
16g.3736766A=CA2202936695CREBBPc.4444T= (p.Tyr1482=)
c.4330T= (p.Tyr1444=)
c.3079T= (p.Tyr1027=)
n.234T=
n.265T=
n.3267T=
c.4399T= (p.Tyr1467=)
c.4027T= (p.Tyr1343=)
c.4183T= (p.Tyr1395=)
c.4390T= (p.Tyr1464=)
c.3691T= (p.Tyr1231=)
c.4438T= (p.Tyr1480=)
16g.3736766A>CCA271415CREBBPc.4444T>G (p.Tyr1482Asp)
c.4330T>G (p.Tyr1444Asp)
c.3079T>G (p.Tyr1027Asp)
n.234T>G
n.265T>G
n.3267T>G
c.4399T>G (p.Tyr1467Asp)
c.4027T>G (p.Tyr1343Asp)
c.4183T>G (p.Tyr1395Asp)
c.4390T>G (p.Tyr1464Asp)
c.3691T>G (p.Tyr1231Asp)
c.4438T>G (p.Tyr1480Asp)
ClinVar dbSNP
16g.3736766A>GCA394563921CREBBPc.4444T>C (p.Tyr1482His)
c.4330T>C (p.Tyr1444His)
c.3079T>C (p.Tyr1027His)
n.234T>C
n.265T>C
n.3267T>C
c.4399T>C (p.Tyr1467His)
c.4027T>C (p.Tyr1343His)
c.4183T>C (p.Tyr1395His)
c.4390T>C (p.Tyr1464His)
c.3691T>C (p.Tyr1231His)
c.4438T>C (p.Tyr1480His)
dbSNP gnomAD v4 COSMIC
16g.3736766A>TCA394563923CREBBPc.4444T>A (p.Tyr1482Asn)
c.4330T>A (p.Tyr1444Asn)
c.3079T>A (p.Tyr1027Asn)
n.234T>A
n.265T>A
n.3267T>A
c.4399T>A (p.Tyr1467Asn)
c.4027T>A (p.Tyr1343Asn)
c.4183T>A (p.Tyr1395Asn)
c.4390T>A (p.Tyr1464Asn)
c.3691T>A (p.Tyr1231Asn)
c.4438T>A (p.Tyr1480Asn)
dbSNP COSMIC
16g.3736767delCA2695222630CREBBPc.4444del (p.Tyr1482ThrfsTer?)
c.4330del (p.Tyr1444ThrfsTer?)
c.3079del (p.Tyr1027ThrfsTer?)
n.234del
n.265del
n.3267del
c.4399del (p.Tyr1467ThrfsTer?)
c.4027del (p.Tyr1343ThrfsTer?)
c.4183del (p.Tyr1395ThrfsTer?)
c.4390del (p.Tyr1464ThrfsTer?)
c.3691del (p.Tyr1231ThrfsTer?)
c.4438del (p.Tyr1480ThrfsTer?)
16g.3736767A>CCA394563927CREBBPc.4443T>G (p.Asp1481Glu)
c.4329T>G (p.Asp1443Glu)
c.3078T>G (p.Asp1026Glu)
n.233T>G
n.264T>G
n.3266T>G
c.4398T>G (p.Asp1466Glu)
c.4026T>G (p.Asp1342Glu)
c.4182T>G (p.Asp1394Glu)
c.4389T>G (p.Asp1463Glu)
c.3690T>G (p.Asp1230Glu)
c.4437T>G (p.Asp1479Glu)
16g.3736767A>GCA493279519CREBBPc.4443T>C (p.Asp1481=)
c.4329T>C (p.Asp1443=)
c.3078T>C (p.Asp1026=)
n.233T>C
n.264T>C
n.3266T>C
c.4398T>C (p.Asp1466=)
c.4026T>C (p.Asp1342=)
c.4182T>C (p.Asp1394=)
c.4389T>C (p.Asp1463=)
c.3690T>C (p.Asp1230=)
c.4437T>C (p.Asp1479=)
16g.3736767A>TCA394563925CREBBPc.4443T>A (p.Asp1481Glu)
c.4329T>A (p.Asp1443Glu)
c.3078T>A (p.Asp1026Glu)
n.233T>A
n.264T>A
n.3266T>A
c.4398T>A (p.Asp1466Glu)
c.4026T>A (p.Asp1342Glu)
c.4182T>A (p.Asp1394Glu)
c.4389T>A (p.Asp1463Glu)
c.3690T>A (p.Asp1230Glu)
c.4437T>A (p.Asp1479Glu)
16g.3736770_3736772delCA2580613411CREBBPc.4441_4443del (p.Asp1481del)
c.4327_4329del (p.Asp1443del)
c.3076_3078del (p.Asp1026del)
n.231_233del
n.262_264del
n.3264_3266del
c.4396_4398del (p.Asp1466del)
c.4024_4026del (p.Asp1342del)
c.4180_4182del (p.Asp1394del)
c.4387_4389del (p.Asp1463del)
c.3688_3690del (p.Asp1230del)
c.4435_4437del (p.Asp1479del)
ClinVar
16g.3736768T>ACA394563929CREBBPc.4442A>T (p.Asp1481Val)
c.4328A>T (p.Asp1443Val)
c.3077A>T (p.Asp1026Val)
n.232A>T
n.263A>T
n.3265A>T
c.4397A>T (p.Asp1466Val)
c.4025A>T (p.Asp1342Val)
c.4181A>T (p.Asp1394Val)
c.4388A>T (p.Asp1463Val)
c.3689A>T (p.Asp1230Val)
c.4436A>T (p.Asp1479Val)
dbSNP
16g.3736768T>CCA394563933CREBBPc.4442A>G (p.Asp1481Gly)
c.4328A>G (p.Asp1443Gly)
c.3077A>G (p.Asp1026Gly)
n.232A>G
n.263A>G
n.3265A>G
c.4397A>G (p.Asp1466Gly)
c.4025A>G (p.Asp1342Gly)
c.4181A>G (p.Asp1394Gly)
c.4388A>G (p.Asp1463Gly)
c.3689A>G (p.Asp1230Gly)
c.4436A>G (p.Asp1479Gly)
ClinVar dbSNP
16g.3736768T>GCA394563931CREBBPc.4442A>C (p.Asp1481Ala)
c.4328A>C (p.Asp1443Ala)
c.3077A>C (p.Asp1026Ala)
n.232A>C
n.263A>C
n.3265A>C
c.4397A>C (p.Asp1466Ala)
c.4025A>C (p.Asp1342Ala)
c.4181A>C (p.Asp1394Ala)
c.4388A>C (p.Asp1463Ala)
c.3689A>C (p.Asp1230Ala)
c.4436A>C (p.Asp1479Ala)
dbSNP
16g.3736769C>ACA394563935CREBBPc.4441G>T (p.Asp1481Tyr)
c.4327G>T (p.Asp1443Tyr)
c.3076G>T (p.Asp1026Tyr)
n.231G>T
n.262G>T
n.3264G>T
c.4396G>T (p.Asp1466Tyr)
c.4024G>T (p.Asp1342Tyr)
c.4180G>T (p.Asp1394Tyr)
c.4387G>T (p.Asp1463Tyr)
c.3688G>T (p.Asp1230Tyr)
c.4435G>T (p.Asp1479Tyr)
16g.3736769C>GCA394563939CREBBPc.4441G>C (p.Asp1481His)
c.4327G>C (p.Asp1443His)
c.3076G>C (p.Asp1026His)
n.231G>C
n.262G>C
n.3264G>C
c.4396G>C (p.Asp1466His)
c.4024G>C (p.Asp1342His)
c.4180G>C (p.Asp1394His)
c.4387G>C (p.Asp1463His)
c.3688G>C (p.Asp1230His)
c.4435G>C (p.Asp1479His)
dbSNP
16g.3736769C>TCA394563936CREBBPc.4441G>A (p.Asp1481Asn)
c.4327G>A (p.Asp1443Asn)
c.3076G>A (p.Asp1026Asn)
n.231G>A
n.262G>A
n.3264G>A
c.4396G>A (p.Asp1466Asn)
c.4024G>A (p.Asp1342Asn)
c.4180G>A (p.Asp1394Asn)
c.4387G>A (p.Asp1463Asn)
c.3688G>A (p.Asp1230Asn)
c.4435G>A (p.Asp1479Asn)
dbSNP
16g.3736770A=CA2202936698CREBBPc.4440T= (p.Asp1480=)
c.4326T= (p.Asp1442=)
c.3075T= (p.Asp1025=)
n.230T=
n.261T=
n.3263T=
c.4395T= (p.Asp1465=)
c.4023T= (p.Asp1341=)
c.4179T= (p.Asp1393=)
c.4386T= (p.Asp1462=)
c.3687T= (p.Asp1229=)
c.4434T= (p.Asp1478=)
16g.3736770A>CCA394563941CREBBPc.4440T>G (p.Asp1480Glu)
c.4326T>G (p.Asp1442Glu)
c.3075T>G (p.Asp1025Glu)
n.230T>G
n.261T>G
n.3263T>G
c.4395T>G (p.Asp1465Glu)
c.4023T>G (p.Asp1341Glu)
c.4179T>G (p.Asp1393Glu)
c.4386T>G (p.Asp1462Glu)
c.3687T>G (p.Asp1229Glu)
c.4434T>G (p.Asp1478Glu)
dbSNP
16g.3736770A>GCA7869518CREBBPc.4440T>C (p.Asp1480=)
c.4326T>C (p.Asp1442=)
c.3075T>C (p.Asp1025=)
n.230T>C
n.261T>C
n.3263T>C
c.4395T>C (p.Asp1465=)
c.4023T>C (p.Asp1341=)
c.4179T>C (p.Asp1393=)
c.4386T>C (p.Asp1462=)
c.3687T>C (p.Asp1229=)
c.4434T>C (p.Asp1478=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.3736770A>TCA394563944CREBBPc.4440T>A (p.Asp1480Glu)
c.4326T>A (p.Asp1442Glu)
c.3075T>A (p.Asp1025Glu)
n.230T>A
n.261T>A
n.3263T>A
c.4395T>A (p.Asp1465Glu)
c.4023T>A (p.Asp1341Glu)
c.4179T>A (p.Asp1393Glu)
c.4386T>A (p.Asp1462Glu)
c.3687T>A (p.Asp1229Glu)
c.4434T>A (p.Asp1478Glu)
dbSNP
16g.3736771T>ACA394563946CREBBPc.4439A>T (p.Asp1480Val)
c.4325A>T (p.Asp1442Val)
c.3074A>T (p.Asp1025Val)
n.229A>T
n.260A>T
n.3262A>T
c.4394A>T (p.Asp1465Val)
c.4022A>T (p.Asp1341Val)
c.4178A>T (p.Asp1393Val)
c.4385A>T (p.Asp1462Val)
c.3686A>T (p.Asp1229Val)
c.4433A>T (p.Asp1478Val)
16g.3736771T>CCA10603272CREBBPc.4439A>G (p.Asp1480Gly)
c.4325A>G (p.Asp1442Gly)
c.3074A>G (p.Asp1025Gly)
n.229A>G
n.260A>G
n.3262A>G
c.4394A>G (p.Asp1465Gly)
c.4022A>G (p.Asp1341Gly)
c.4178A>G (p.Asp1393Gly)
c.4385A>G (p.Asp1462Gly)
c.3686A>G (p.Asp1229Gly)
c.4433A>G (p.Asp1478Gly)
ClinVar dbSNP
16g.3736771T>GCA394563949CREBBPc.4439A>C (p.Asp1480Ala)
c.4325A>C (p.Asp1442Ala)
c.3074A>C (p.Asp1025Ala)
n.229A>C
n.260A>C
n.3262A>C
c.4394A>C (p.Asp1465Ala)
c.4022A>C (p.Asp1341Ala)
c.4178A>C (p.Asp1393Ala)
c.4385A>C (p.Asp1462Ala)
c.3686A>C (p.Asp1229Ala)
c.4433A>C (p.Asp1478Ala)
16g.3736771T=CA2202936701CREBBPc.4439A= (p.Asp1480=)
c.4325A= (p.Asp1442=)
c.3074A= (p.Asp1025=)
n.229A=
n.260A=
n.3262A=
c.4394A= (p.Asp1465=)
c.4022A= (p.Asp1341=)
c.4178A= (p.Asp1393=)
c.4385A= (p.Asp1462=)
c.3686A= (p.Asp1229=)
c.4433A= (p.Asp1478=)
16g.3736771_3736774delinsTCTCCA2202936703CREBBPc.4436_4439delinsGAGA (p.Gly1479=)
c.4322_4325delinsGAGA (p.Gly1441=)
c.3071_3074delinsGAGA (p.Gly1024=)
n.226_229delinsGAGA
n.257_260delinsGAGA
n.3259_3262delinsGAGA
c.4391_4394delinsGAGA (p.Gly1464=)
c.4019_4022delinsGAGA (p.Gly1340=)
c.4175_4178delinsGAGA (p.Gly1392=)
c.4382_4385delinsGAGA (p.Gly1461=)
c.3683_3686delinsGAGA (p.Gly1228=)
c.4430_4433delinsGAGA (p.Gly1477=)
16g.3736772C>ACA394563951CREBBPc.4438G>T (p.Asp1480Tyr)
c.4324G>T (p.Asp1442Tyr)
c.3073G>T (p.Asp1025Tyr)
n.228G>T
n.259G>T
n.3261G>T
c.4393G>T (p.Asp1465Tyr)
c.4021G>T (p.Asp1341Tyr)
c.4177G>T (p.Asp1393Tyr)
c.4384G>T (p.Asp1462Tyr)
c.3685G>T (p.Asp1229Tyr)
c.4432G>T (p.Asp1478Tyr)
dbSNP
16g.3736772C>GCA394563953CREBBPc.4438G>C (p.Asp1480His)
c.4324G>C (p.Asp1442His)
c.3073G>C (p.Asp1025His)
n.228G>C
n.259G>C
n.3261G>C
c.4393G>C (p.Asp1465His)
c.4021G>C (p.Asp1341His)
c.4177G>C (p.Asp1393His)
c.4384G>C (p.Asp1462His)
c.3685G>C (p.Asp1229His)
c.4432G>C (p.Asp1478His)
dbSNP
16g.3736772C>TCA394563955CREBBPc.4438G>A (p.Asp1480Asn)
c.4324G>A (p.Asp1442Asn)
c.3073G>A (p.Asp1025Asn)
n.228G>A
n.259G>A
n.3261G>A
c.4393G>A (p.Asp1465Asn)
c.4021G>A (p.Asp1341Asn)
c.4177G>A (p.Asp1393Asn)
c.4384G>A (p.Asp1462Asn)
c.3685G>A (p.Asp1229Asn)
c.4432G>A (p.Asp1478Asn)
dbSNP
16g.3736774_3736776delCA658823772CREBBPc.4436_4438del (p.Gly1479del)
c.4322_4324del (p.Gly1441del)
c.3071_3073del (p.Gly1024del)
n.226_228del
n.257_259del
n.3259_3261del
c.4391_4393del (p.Gly1464del)
c.4019_4021del (p.Gly1340del)
c.4175_4177del (p.Gly1392del)
c.4382_4384del (p.Gly1461del)
c.3683_3685del (p.Gly1228del)
c.4430_4432del (p.Gly1477del)
ClinVar dbSNP
16g.3736773T>ACA493279543CREBBPc.4437A>T (p.Gly1479=)
c.4323A>T (p.Gly1441=)
c.3072A>T (p.Gly1024=)
n.227A>T
n.258A>T
n.3260A>T
c.4392A>T (p.Gly1464=)
c.4020A>T (p.Gly1340=)
c.4176A>T (p.Gly1392=)
c.4383A>T (p.Gly1461=)
c.3684A>T (p.Gly1228=)
c.4431A>T (p.Gly1477=)
16g.3736773T>CCA493279545CREBBPc.4437A>G (p.Gly1479=)
c.4323A>G (p.Gly1441=)
c.3072A>G (p.Gly1024=)
n.227A>G
n.258A>G
n.3260A>G
c.4392A>G (p.Gly1464=)
c.4020A>G (p.Gly1340=)
c.4176A>G (p.Gly1392=)
c.4383A>G (p.Gly1461=)
c.3684A>G (p.Gly1228=)
c.4431A>G (p.Gly1477=)
gnomAD v4
16g.3736773T>GCA493279546CREBBPc.4437A>C (p.Gly1479=)
c.4323A>C (p.Gly1441=)
c.3072A>C (p.Gly1024=)
n.227A>C
n.258A>C
n.3260A>C
c.4392A>C (p.Gly1464=)
c.4020A>C (p.Gly1340=)
c.4176A>C (p.Gly1392=)
c.4383A>C (p.Gly1461=)
c.3684A>C (p.Gly1228=)
c.4431A>C (p.Gly1477=)
16g.3736774C>ACA394563957CREBBPc.4436G>T (p.Gly1479Val)
c.4322G>T (p.Gly1441Val)
c.3071G>T (p.Gly1024Val)
n.226G>T
n.257G>T
n.3259G>T
c.4391G>T (p.Gly1464Val)
c.4019G>T (p.Gly1340Val)
c.4175G>T (p.Gly1392Val)
c.4382G>T (p.Gly1461Val)
c.3683G>T (p.Gly1228Val)
c.4430G>T (p.Gly1477Val)
dbSNP
16g.3736774C>GCA394563959CREBBPc.4436G>C (p.Gly1479Ala)
c.4322G>C (p.Gly1441Ala)
c.3071G>C (p.Gly1024Ala)
n.226G>C
n.257G>C
n.3259G>C
c.4391G>C (p.Gly1464Ala)
c.4019G>C (p.Gly1340Ala)
c.4175G>C (p.Gly1392Ala)
c.4382G>C (p.Gly1461Ala)
c.3683G>C (p.Gly1228Ala)
c.4430G>C (p.Gly1477Ala)
dbSNP
16g.3736774C>TCA394563961CREBBPc.4436G>A (p.Gly1479Glu)
c.4322G>A (p.Gly1441Glu)
c.3071G>A (p.Gly1024Glu)
n.226G>A
n.257G>A
n.3259G>A
c.4391G>A (p.Gly1464Glu)
c.4019G>A (p.Gly1340Glu)
c.4175G>A (p.Gly1392Glu)
c.4382G>A (p.Gly1461Glu)
c.3683G>A (p.Gly1228Glu)
c.4430G>A (p.Gly1477Glu)
dbSNP
16g.3736775C>ACA394563965CREBBPc.4435G>T (p.Gly1479Ter)
c.4321G>T (p.Gly1441Ter)
c.3070G>T (p.Gly1024Ter)
n.225G>T
n.256G>T
n.3258G>T
c.4390G>T (p.Gly1464Ter)
c.4018G>T (p.Gly1340Ter)
c.4174G>T (p.Gly1392Ter)
c.4381G>T (p.Gly1461Ter)
c.3682G>T (p.Gly1228Ter)
c.4429G>T (p.Gly1477Ter)
16g.3736775C>GCA394563963CREBBPc.4435G>C (p.Gly1479Arg)
c.4321G>C (p.Gly1441Arg)
c.3070G>C (p.Gly1024Arg)
n.225G>C
n.256G>C
n.3258G>C
c.4390G>C (p.Gly1464Arg)
c.4018G>C (p.Gly1340Arg)
c.4174G>C (p.Gly1392Arg)
c.4381G>C (p.Gly1461Arg)
c.3682G>C (p.Gly1228Arg)
c.4429G>C (p.Gly1477Arg)
16g.3736775C>TCA394563964CREBBPc.4435G>A (p.Gly1479Arg)
c.4321G>A (p.Gly1441Arg)
c.3070G>A (p.Gly1024Arg)
n.225G>A
n.256G>A
n.3258G>A
c.4390G>A (p.Gly1464Arg)
c.4018G>A (p.Gly1340Arg)
c.4174G>A (p.Gly1392Arg)
c.4381G>A (p.Gly1461Arg)
c.3682G>A (p.Gly1228Arg)
c.4429G>A (p.Gly1477Arg)
16g.3736776T>ACA394563966CREBBPc.4434A>T (p.Glu1478Asp)
c.4320A>T (p.Glu1440Asp)
c.3069A>T (p.Glu1023Asp)
n.224A>T
n.255A>T
n.3257A>T
c.4389A>T (p.Glu1463Asp)
c.4017A>T (p.Glu1339Asp)
c.4173A>T (p.Glu1391Asp)
c.4380A>T (p.Glu1460Asp)
c.3681A>T (p.Glu1227Asp)
c.4428A>T (p.Glu1476Asp)
dbSNP
16g.3736776T>CCA493279557CREBBPc.4434A>G (p.Glu1478=)
c.4320A>G (p.Glu1440=)
c.3069A>G (p.Glu1023=)
n.224A>G
n.255A>G
n.3257A>G
c.4389A>G (p.Glu1463=)
c.4017A>G (p.Glu1339=)
c.4173A>G (p.Glu1391=)
c.4380A>G (p.Glu1460=)
c.3681A>G (p.Glu1227=)
c.4428A>G (p.Glu1476=)
dbSNP
16g.3736776T>GCA394563967CREBBPc.4434A>C (p.Glu1478Asp)
c.4320A>C (p.Glu1440Asp)
c.3069A>C (p.Glu1023Asp)
n.224A>C
n.255A>C
n.3257A>C
c.4389A>C (p.Glu1463Asp)
c.4017A>C (p.Glu1339Asp)
c.4173A>C (p.Glu1391Asp)
c.4380A>C (p.Glu1460Asp)
c.3681A>C (p.Glu1227Asp)
c.4428A>C (p.Glu1476Asp)
16g.3736777T>ACA394563968CREBBPc.4433A>T (p.Glu1478Val)
c.4319A>T (p.Glu1440Val)
c.3068A>T (p.Glu1023Val)
n.223A>T
n.254A>T
n.3256A>T
c.4388A>T (p.Glu1463Val)
c.4016A>T (p.Glu1339Val)
c.4172A>T (p.Glu1391Val)
c.4379A>T (p.Glu1460Val)
c.3680A>T (p.Glu1227Val)
c.4427A>T (p.Glu1476Val)
dbSNP
16g.3736777T>CCA394563969CREBBPc.4433A>G (p.Glu1478Gly)
c.4319A>G (p.Glu1440Gly)
c.3068A>G (p.Glu1023Gly)
n.223A>G
n.254A>G
n.3256A>G
c.4388A>G (p.Glu1463Gly)
c.4016A>G (p.Glu1339Gly)
c.4172A>G (p.Glu1391Gly)
c.4379A>G (p.Glu1460Gly)
c.3680A>G (p.Glu1227Gly)
c.4427A>G (p.Glu1476Gly)
16g.3736777T>GCA394563970CREBBPc.4433A>C (p.Glu1478Ala)
c.4319A>C (p.Glu1440Ala)
c.3068A>C (p.Glu1023Ala)
n.223A>C
n.254A>C
n.3256A>C
c.4388A>C (p.Glu1463Ala)
c.4016A>C (p.Glu1339Ala)
c.4172A>C (p.Glu1391Ala)
c.4379A>C (p.Glu1460Ala)
c.3680A>C (p.Glu1227Ala)
c.4427A>C (p.Glu1476Ala)
16g.3736778C>ACA394563971CREBBPc.4432G>T (p.Glu1478Ter)
c.4318G>T (p.Glu1440Ter)
c.3067G>T (p.Glu1023Ter)
n.222G>T
n.253G>T
n.3255G>T
c.4387G>T (p.Glu1463Ter)
c.4015G>T (p.Glu1339Ter)
c.4171G>T (p.Glu1391Ter)
c.4378G>T (p.Glu1460Ter)
c.3679G>T (p.Glu1227Ter)
c.4426G>T (p.Glu1476Ter)
dbSNP
16g.3736778C>GCA394563972CREBBPc.4432G>C (p.Glu1478Gln)
c.4318G>C (p.Glu1440Gln)
c.3067G>C (p.Glu1023Gln)
n.222G>C
n.253G>C
n.3255G>C
c.4387G>C (p.Glu1463Gln)
c.4015G>C (p.Glu1339Gln)
c.4171G>C (p.Glu1391Gln)
c.4378G>C (p.Glu1460Gln)
c.3679G>C (p.Glu1227Gln)
c.4426G>C (p.Glu1476Gln)
dbSNP
16g.3736778C>TCA394563973CREBBPc.4432G>A (p.Glu1478Lys)
c.4318G>A (p.Glu1440Lys)
c.3067G>A (p.Glu1023Lys)
n.222G>A
n.253G>A
n.3255G>A
c.4387G>A (p.Glu1463Lys)
c.4015G>A (p.Glu1339Lys)
c.4171G>A (p.Glu1391Lys)
c.4378G>A (p.Glu1460Lys)
c.3679G>A (p.Glu1227Lys)
c.4426G>A (p.Glu1476Lys)
dbSNP COSMIC
16g.3736779A>CCA394563974CREBBPc.4431T>G (p.Ser1477Arg)
c.4317T>G (p.Ser1439Arg)
c.3066T>G (p.Ser1022Arg)
n.221T>G
n.252T>G
n.3254T>G
c.4386T>G (p.Ser1462Arg)
c.4014T>G (p.Ser1338Arg)
c.4170T>G (p.Ser1390Arg)
c.4377T>G (p.Ser1459Arg)
c.3678T>G (p.Ser1226Arg)
c.4425T>G (p.Ser1475Arg)
dbSNP
16g.3736779A>GCA493279570CREBBPc.4431T>C (p.Ser1477=)
c.4317T>C (p.Ser1439=)
c.3066T>C (p.Ser1022=)
n.221T>C
n.252T>C
n.3254T>C
c.4386T>C (p.Ser1462=)
c.4014T>C (p.Ser1338=)
c.4170T>C (p.Ser1390=)
c.4377T>C (p.Ser1459=)
c.3678T>C (p.Ser1226=)
c.4425T>C (p.Ser1475=)
16g.3736779A>TCA394563975CREBBPc.4431T>A (p.Ser1477Arg)
c.4317T>A (p.Ser1439Arg)
c.3066T>A (p.Ser1022Arg)
n.221T>A
n.252T>A
n.3254T>A
c.4386T>A (p.Ser1462Arg)
c.4014T>A (p.Ser1338Arg)
c.4170T>A (p.Ser1390Arg)
c.4377T>A (p.Ser1459Arg)
c.3678T>A (p.Ser1226Arg)
c.4425T>A (p.Ser1475Arg)
dbSNP
16g.3736780C>ACA394563978CREBBPc.4430G>T (p.Ser1477Ile)
c.4316G>T (p.Ser1439Ile)
c.3065G>T (p.Ser1022Ile)
n.220G>T
n.251G>T
n.3253G>T
c.4385G>T (p.Ser1462Ile)
c.4013G>T (p.Ser1338Ile)
c.4169G>T (p.Ser1390Ile)
c.4376G>T (p.Ser1459Ile)
c.3677G>T (p.Ser1226Ile)
c.4424G>T (p.Ser1475Ile)
dbSNP
16g.3736780C>GCA394563977CREBBPc.4430G>C (p.Ser1477Thr)
c.4316G>C (p.Ser1439Thr)
c.3065G>C (p.Ser1022Thr)
n.220G>C
n.251G>C
n.3253G>C
c.4385G>C (p.Ser1462Thr)
c.4013G>C (p.Ser1338Thr)
c.4169G>C (p.Ser1390Thr)
c.4376G>C (p.Ser1459Thr)
c.3677G>C (p.Ser1226Thr)
c.4424G>C (p.Ser1475Thr)
dbSNP
16g.3736780C>TCA394563976CREBBPc.4430G>A (p.Ser1477Asn)
c.4316G>A (p.Ser1439Asn)
c.3065G>A (p.Ser1022Asn)
n.220G>A
n.251G>A
n.3253G>A
c.4385G>A (p.Ser1462Asn)
c.4013G>A (p.Ser1338Asn)
c.4169G>A (p.Ser1390Asn)
c.4376G>A (p.Ser1459Asn)
c.3677G>A (p.Ser1226Asn)
c.4424G>A (p.Ser1475Asn)
16g.3736781T>ACA394563979CREBBPc.4429A>T (p.Ser1477Cys)
c.4315A>T (p.Ser1439Cys)
c.3064A>T (p.Ser1022Cys)
n.219A>T
n.250A>T
n.3252A>T
c.4384A>T (p.Ser1462Cys)
c.4012A>T (p.Ser1338Cys)
c.4168A>T (p.Ser1390Cys)
c.4375A>T (p.Ser1459Cys)
c.3676A>T (p.Ser1226Cys)
c.4423A>T (p.Ser1475Cys)
dbSNP
16g.3736781T>CCA394563980CREBBPc.4429A>G (p.Ser1477Gly)
c.4315A>G (p.Ser1439Gly)
c.3064A>G (p.Ser1022Gly)
n.219A>G
n.250A>G
n.3252A>G
c.4384A>G (p.Ser1462Gly)
c.4012A>G (p.Ser1338Gly)
c.4168A>G (p.Ser1390Gly)
c.4375A>G (p.Ser1459Gly)
c.3676A>G (p.Ser1226Gly)
c.4423A>G (p.Ser1475Gly)
dbSNP
16g.3736781T>GCA394563981CREBBPc.4429A>C (p.Ser1477Arg)
c.4315A>C (p.Ser1439Arg)
c.3064A>C (p.Ser1022Arg)
n.219A>C
n.250A>C
n.3252A>C
c.4384A>C (p.Ser1462Arg)
c.4012A>C (p.Ser1338Arg)
c.4168A>C (p.Ser1390Arg)
c.4375A>C (p.Ser1459Arg)
c.3676A>C (p.Ser1226Arg)
c.4423A>C (p.Ser1475Arg)
16g.3736782T>ACA493279581CREBBPc.4428A>T (p.Pro1476=)
c.4314A>T (p.Pro1438=)
c.3063A>T (p.Pro1021=)
n.218A>T
n.249A>T
n.3251A>T
c.4383A>T (p.Pro1461=)
c.4011A>T (p.Pro1337=)
c.4167A>T (p.Pro1389=)
c.4374A>T (p.Pro1458=)
c.3675A>T (p.Pro1225=)
c.4422A>T (p.Pro1474=)
16g.3736782T>CCA493279582CREBBPc.4428A>G (p.Pro1476=)
c.4314A>G (p.Pro1438=)
c.3063A>G (p.Pro1021=)
n.218A>G
n.249A>G
n.3251A>G
c.4383A>G (p.Pro1461=)
c.4011A>G (p.Pro1337=)
c.4167A>G (p.Pro1389=)
c.4374A>G (p.Pro1458=)
c.3675A>G (p.Pro1225=)
c.4422A>G (p.Pro1474=)
gnomAD v4
16g.3736782T>GCA493279584CREBBPc.4428A>C (p.Pro1476=)
c.4314A>C (p.Pro1438=)
c.3063A>C (p.Pro1021=)
n.218A>C
n.249A>C
n.3251A>C
c.4383A>C (p.Pro1461=)
c.4011A>C (p.Pro1337=)
c.4167A>C (p.Pro1389=)
c.4374A>C (p.Pro1458=)
c.3675A>C (p.Pro1225=)
c.4422A>C (p.Pro1474=)
16g.3736782_3736783insACA2741462020CREBBPc.4427_4428insT (p.Ser1477LysfsTer2)
c.4313_4314insT (p.Ser1439LysfsTer2)
c.3062_3063insT (p.Ser1022LysfsTer2)
n.217_218insT
n.248_249insT
n.3250_3251insT
c.4382_4383insT (p.Ser1462LysfsTer2)
c.4010_4011insT (p.Ser1338LysfsTer2)
c.4166_4167insT (p.Ser1390LysfsTer2)
c.4373_4374insT (p.Ser1459LysfsTer2)
c.3674_3675insT (p.Ser1226LysfsTer2)
c.4421_4422insT (p.Ser1475LysfsTer2)
16g.3736783G>ACA394563982CREBBPc.4427C>T (p.Pro1476Leu)
c.4313C>T (p.Pro1438Leu)
c.3062C>T (p.Pro1021Leu)
n.217C>T
n.248C>T
n.3250C>T
c.4382C>T (p.Pro1461Leu)
c.4010C>T (p.Pro1337Leu)
c.4166C>T (p.Pro1389Leu)
c.4373C>T (p.Pro1458Leu)
c.3674C>T (p.Pro1225Leu)
c.4421C>T (p.Pro1474Leu)
dbSNP COSMIC
16g.3736783G>CCA394563983CREBBPc.4427C>G (p.Pro1476Arg)
c.4313C>G (p.Pro1438Arg)
c.3062C>G (p.Pro1021Arg)
n.217C>G
n.248C>G
n.3250C>G
c.4382C>G (p.Pro1461Arg)
c.4010C>G (p.Pro1337Arg)
c.4166C>G (p.Pro1389Arg)
c.4373C>G (p.Pro1458Arg)
c.3674C>G (p.Pro1225Arg)
c.4421C>G (p.Pro1474Arg)
dbSNP COSMIC
16g.3736783G>TCA394563984CREBBPc.4427C>A (p.Pro1476Gln)
c.4313C>A (p.Pro1438Gln)
c.3062C>A (p.Pro1021Gln)
n.217C>A
n.248C>A
n.3250C>A
c.4382C>A (p.Pro1461Gln)
c.4010C>A (p.Pro1337Gln)
c.4166C>A (p.Pro1389Gln)
c.4373C>A (p.Pro1458Gln)
c.3674C>A (p.Pro1225Gln)
c.4421C>A (p.Pro1474Gln)
dbSNP
16g.3736784G>ACA394563985CREBBPc.4426C>T (p.Pro1476Ser)
c.4312C>T (p.Pro1438Ser)
c.3061C>T (p.Pro1021Ser)
n.216C>T
n.247C>T
n.3249C>T
c.4381C>T (p.Pro1461Ser)
c.4009C>T (p.Pro1337Ser)
c.4165C>T (p.Pro1389Ser)
c.4372C>T (p.Pro1458Ser)
c.3673C>T (p.Pro1225Ser)
c.4420C>T (p.Pro1474Ser)
dbSNP
16g.3736784G>CCA394563986CREBBPc.4426C>G (p.Pro1476Ala)
c.4312C>G (p.Pro1438Ala)
c.3061C>G (p.Pro1021Ala)
n.216C>G
n.247C>G
n.3249C>G
c.4381C>G (p.Pro1461Ala)
c.4009C>G (p.Pro1337Ala)
c.4165C>G (p.Pro1389Ala)
c.4372C>G (p.Pro1458Ala)
c.3673C>G (p.Pro1225Ala)
c.4420C>G (p.Pro1474Ala)
dbSNP
16g.3736784G>TCA394563987CREBBPc.4426C>A (p.Pro1476Thr)
c.4312C>A (p.Pro1438Thr)
c.3061C>A (p.Pro1021Thr)
n.216C>A
n.247C>A
n.3249C>A
c.4381C>A (p.Pro1461Thr)
c.4009C>A (p.Pro1337Thr)
c.4165C>A (p.Pro1389Thr)
c.4372C>A (p.Pro1458Thr)
c.3673C>A (p.Pro1225Thr)
c.4420C>A (p.Pro1474Thr)
16g.3736785_3736786delCA2695222631CREBBPc.4425_4426del (p.Pro1476LysfsTer2)
c.4311_4312del (p.Pro1438LysfsTer2)
c.3060_3061del (p.Pro1021LysfsTer2)
n.215_216del
n.246_247del
n.3248_3249del
c.4380_4381del (p.Pro1461LysfsTer2)
c.4008_4009del (p.Pro1337LysfsTer2)
c.4164_4165del (p.Pro1389LysfsTer2)
c.4371_4372del (p.Pro1458LysfsTer2)
c.3672_3673del (p.Pro1225LysfsTer2)
c.4419_4420del (p.Pro1474LysfsTer2)
16g.3736785A=CA2202936707CREBBPc.4425T= (p.Pro1475=)
c.4311T= (p.Pro1437=)
c.3060T= (p.Pro1020=)
n.215T=
n.246T=
n.3248T=
c.4380T= (p.Pro1460=)
c.4008T= (p.Pro1336=)
c.4164T= (p.Pro1388=)
c.4371T= (p.Pro1457=)
c.3672T= (p.Pro1224=)
c.4419T= (p.Pro1473=)
16g.3736785A>CCA493279591CREBBPc.4425T>G (p.Pro1475=)
c.4311T>G (p.Pro1437=)
c.3060T>G (p.Pro1020=)
n.215T>G
n.246T>G
n.3248T>G
c.4380T>G (p.Pro1460=)
c.4008T>G (p.Pro1336=)
c.4164T>G (p.Pro1388=)
c.4371T>G (p.Pro1457=)
c.3672T>G (p.Pro1224=)
c.4419T>G (p.Pro1473=)
dbSNP gnomAD v2 gnomAD v4
16g.3736785A>GCA493279593CREBBPc.4425T>C (p.Pro1475=)
c.4311T>C (p.Pro1437=)
c.3060T>C (p.Pro1020=)
n.215T>C
n.246T>C
n.3248T>C
c.4380T>C (p.Pro1460=)
c.4008T>C (p.Pro1336=)
c.4164T>C (p.Pro1388=)
c.4371T>C (p.Pro1457=)
c.3672T>C (p.Pro1224=)
c.4419T>C (p.Pro1473=)
dbSNP gnomAD v4
16g.3736785A>TCA493279595CREBBPc.4425T>A (p.Pro1475=)
c.4311T>A (p.Pro1437=)
c.3060T>A (p.Pro1020=)
n.215T>A
n.246T>A
n.3248T>A
c.4380T>A (p.Pro1460=)
c.4008T>A (p.Pro1336=)
c.4164T>A (p.Pro1388=)
c.4371T>A (p.Pro1457=)
c.3672T>A (p.Pro1224=)
c.4419T>A (p.Pro1473=)
dbSNP
16g.3736786G>ACA394563988CREBBPc.4424C>T (p.Pro1475Leu)
c.4310C>T (p.Pro1437Leu)
c.3059C>T (p.Pro1020Leu)
n.214C>T
n.245C>T
n.3247C>T
c.4379C>T (p.Pro1460Leu)
c.4007C>T (p.Pro1336Leu)
c.4163C>T (p.Pro1388Leu)
c.4370C>T (p.Pro1457Leu)
c.3671C>T (p.Pro1224Leu)
c.4418C>T (p.Pro1473Leu)
dbSNP COSMIC
16g.3736786G>CCA394563989CREBBPc.4424C>G (p.Pro1475Arg)
c.4310C>G (p.Pro1437Arg)
c.3059C>G (p.Pro1020Arg)
n.214C>G
n.245C>G
n.3247C>G
c.4379C>G (p.Pro1460Arg)
c.4007C>G (p.Pro1336Arg)
c.4163C>G (p.Pro1388Arg)
c.4370C>G (p.Pro1457Arg)
c.3671C>G (p.Pro1224Arg)
c.4418C>G (p.Pro1473Arg)
COSMIC
16g.3736786G>TCA394563990CREBBPc.4424C>A (p.Pro1475His)
c.4310C>A (p.Pro1437His)
c.3059C>A (p.Pro1020His)
n.214C>A
n.245C>A
n.3247C>A
c.4379C>A (p.Pro1460His)
c.4007C>A (p.Pro1336His)
c.4163C>A (p.Pro1388His)
c.4370C>A (p.Pro1457His)
c.3671C>A (p.Pro1224His)
c.4418C>A (p.Pro1473His)
16g.3736787G>ACA394563993CREBBPc.4423C>T (p.Pro1475Ser)
c.4309C>T (p.Pro1437Ser)
c.3058C>T (p.Pro1020Ser)
n.213C>T
n.244C>T
n.3246C>T
c.4378C>T (p.Pro1460Ser)
c.4006C>T (p.Pro1336Ser)
c.4162C>T (p.Pro1388Ser)
c.4369C>T (p.Pro1457Ser)
c.3670C>T (p.Pro1224Ser)
c.4417C>T (p.Pro1473Ser)
ClinVar dbSNP
16g.3736787G>CCA394563992CREBBPc.4423C>G (p.Pro1475Ala)
c.4309C>G (p.Pro1437Ala)
c.3058C>G (p.Pro1020Ala)
n.213C>G
n.244C>G
n.3246C>G
c.4378C>G (p.Pro1460Ala)
c.4006C>G (p.Pro1336Ala)
c.4162C>G (p.Pro1388Ala)
c.4369C>G (p.Pro1457Ala)
c.3670C>G (p.Pro1224Ala)
c.4417C>G (p.Pro1473Ala)
dbSNP
16g.3736787G>TCA394563991CREBBPc.4423C>A (p.Pro1475Thr)
c.4309C>A (p.Pro1437Thr)
c.3058C>A (p.Pro1020Thr)
n.213C>A
n.244C>A
n.3246C>A
c.4378C>A (p.Pro1460Thr)
c.4006C>A (p.Pro1336Thr)
c.4162C>A (p.Pro1388Thr)
c.4369C>A (p.Pro1457Thr)
c.3670C>A (p.Pro1224Thr)
c.4417C>A (p.Pro1473Thr)
16g.3736788A=CA2202936711CREBBPc.4422T= (p.Cys1474=)
c.4308T= (p.Cys1436=)
c.3057T= (p.Cys1019=)
n.212T=
n.243T=
n.3245T=
c.4377T= (p.Cys1459=)
c.4005T= (p.Cys1335=)
c.4161T= (p.Cys1387=)
c.4368T= (p.Cys1456=)
c.3669T= (p.Cys1223=)
c.4416T= (p.Cys1472=)
16g.3736788A>CCA394563994CREBBPc.4422T>G (p.Cys1474Trp)
c.4308T>G (p.Cys1436Trp)
c.3057T>G (p.Cys1019Trp)
n.212T>G
n.243T>G
n.3245T>G
c.4377T>G (p.Cys1459Trp)
c.4005T>G (p.Cys1335Trp)
c.4161T>G (p.Cys1387Trp)
c.4368T>G (p.Cys1456Trp)
c.3669T>G (p.Cys1223Trp)
c.4416T>G (p.Cys1472Trp)
16g.3736788A>GCA493279606CREBBPc.4422T>C (p.Cys1474=)
c.4308T>C (p.Cys1436=)
c.3057T>C (p.Cys1019=)
n.212T>C
n.243T>C
n.3245T>C
c.4377T>C (p.Cys1459=)
c.4005T>C (p.Cys1335=)
c.4161T>C (p.Cys1387=)
c.4368T>C (p.Cys1456=)
c.3669T>C (p.Cys1223=)
c.4416T>C (p.Cys1472=)
dbSNP gnomAD v2 gnomAD v4
16g.3736788A>TCA394563995CREBBPc.4422T>A (p.Cys1474Ter)
c.4308T>A (p.Cys1436Ter)
c.3057T>A (p.Cys1019Ter)
n.212T>A
n.243T>A
n.3245T>A
c.4377T>A (p.Cys1459Ter)
c.4005T>A (p.Cys1335Ter)
c.4161T>A (p.Cys1387Ter)
c.4368T>A (p.Cys1456Ter)
c.3669T>A (p.Cys1223Ter)
c.4416T>A (p.Cys1472Ter)
16g.3736788_3736789delinsACCA2202936710CREBBPc.4421_4422delinsGT (p.Cys1474=)
c.4307_4308delinsGT (p.Cys1436=)
c.3056_3057delinsGT (p.Cys1019=)
n.211_212delinsGT
n.242_243delinsGT
n.3244_3245delinsGT
c.4376_4377delinsGT (p.Cys1459=)
c.4004_4005delinsGT (p.Cys1335=)
c.4160_4161delinsGT (p.Cys1387=)
c.4367_4368delinsGT (p.Cys1456=)
c.3668_3669delinsGT (p.Cys1223=)
c.4415_4416delinsGT (p.Cys1472=)
16g.3736788_3736789delinsGACA658798528CREBBPc.4421_4422delinsTC (p.Cys1474Phe)
c.4307_4308delinsTC (p.Cys1436Phe)
c.3056_3057delinsTC (p.Cys1019Phe)
n.211_212delinsTC
n.242_243delinsTC
n.3244_3245delinsTC
c.4376_4377delinsTC (p.Cys1459Phe)
c.4004_4005delinsTC (p.Cys1335Phe)
c.4160_4161delinsTC (p.Cys1387Phe)
c.4367_4368delinsTC (p.Cys1456Phe)
c.3668_3669delinsTC (p.Cys1223Phe)
c.4415_4416delinsTC (p.Cys1472Phe)
ClinVar dbSNP
16g.3736789C>ACA394563996CREBBPc.4421G>T (p.Cys1474Phe)
c.4307G>T (p.Cys1436Phe)
c.3056G>T (p.Cys1019Phe)
n.211G>T
n.242G>T
n.3244G>T
c.4376G>T (p.Cys1459Phe)
c.4004G>T (p.Cys1335Phe)
c.4160G>T (p.Cys1387Phe)
c.4367G>T (p.Cys1456Phe)
c.3668G>T (p.Cys1223Phe)
c.4415G>T (p.Cys1472Phe)
dbSNP
16g.3736789C=CA2202936715CREBBPc.4421G= (p.Cys1474=)
c.4307G= (p.Cys1436=)
c.3056G= (p.Cys1019=)
n.211G=
n.242G=
n.3244G=
c.4376G= (p.Cys1459=)
c.4004G= (p.Cys1335=)
c.4160G= (p.Cys1387=)
c.4367G= (p.Cys1456=)
c.3668G= (p.Cys1223=)
c.4415G= (p.Cys1472=)
16g.3736789C>GCA394563997CREBBPc.4421G>C (p.Cys1474Ser)
c.4307G>C (p.Cys1436Ser)
c.3056G>C (p.Cys1019Ser)
n.211G>C
n.242G>C
n.3244G>C
c.4376G>C (p.Cys1459Ser)
c.4004G>C (p.Cys1335Ser)
c.4160G>C (p.Cys1387Ser)
c.4367G>C (p.Cys1456Ser)
c.3668G>C (p.Cys1223Ser)
c.4415G>C (p.Cys1472Ser)
dbSNP
16g.3736789C>TCA10603990CREBBPc.4421G>A (p.Cys1474Tyr)
c.4307G>A (p.Cys1436Tyr)
c.3056G>A (p.Cys1019Tyr)
n.211G>A
n.242G>A
n.3244G>A
c.4376G>A (p.Cys1459Tyr)
c.4004G>A (p.Cys1335Tyr)
c.4160G>A (p.Cys1387Tyr)
c.4367G>A (p.Cys1456Tyr)
c.3668G>A (p.Cys1223Tyr)
c.4415G>A (p.Cys1472Tyr)
ClinVar dbSNP
16g.3736790A>CCA394563998CREBBPc.4420T>G (p.Cys1474Gly)
c.4306T>G (p.Cys1436Gly)
c.3055T>G (p.Cys1019Gly)
n.210T>G
n.241T>G
n.3243T>G
c.4375T>G (p.Cys1459Gly)
c.4003T>G (p.Cys1335Gly)
c.4159T>G (p.Cys1387Gly)
c.4366T>G (p.Cys1456Gly)
c.3667T>G (p.Cys1223Gly)
c.4414T>G (p.Cys1472Gly)
16g.3736790A>GCA394563999CREBBPc.4420T>C (p.Cys1474Arg)
c.4306T>C (p.Cys1436Arg)
c.3055T>C (p.Cys1019Arg)
n.210T>C
n.241T>C
n.3243T>C
c.4375T>C (p.Cys1459Arg)
c.4003T>C (p.Cys1335Arg)
c.4159T>C (p.Cys1387Arg)
c.4366T>C (p.Cys1456Arg)
c.3667T>C (p.Cys1223Arg)
c.4414T>C (p.Cys1472Arg)
dbSNP
16g.3736790A>TCA394564000CREBBPc.4420T>A (p.Cys1474Ser)
c.4306T>A (p.Cys1436Ser)
c.3055T>A (p.Cys1019Ser)
n.210T>A
n.241T>A
n.3243T>A
c.4375T>A (p.Cys1459Ser)
c.4003T>A (p.Cys1335Ser)
c.4159T>A (p.Cys1387Ser)
c.4366T>A (p.Cys1456Ser)
c.3667T>A (p.Cys1223Ser)
c.4414T>A (p.Cys1472Ser)
16g.3736791G>ACA7869519CREBBPc.4419C>T (p.Ala1473=)
c.4305C>T (p.Ala1435=)
c.3054C>T (p.Ala1018=)
n.209C>T
n.240C>T
n.3242C>T
c.4374C>T (p.Ala1458=)
c.4002C>T (p.Ala1334=)
c.4158C>T (p.Ala1386=)
c.4365C>T (p.Ala1455=)
c.3666C>T (p.Ala1222=)
c.4413C>T (p.Ala1471=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736791G>CCA493279620CREBBPc.4419C>G (p.Ala1473=)
c.4305C>G (p.Ala1435=)
c.3054C>G (p.Ala1018=)
n.209C>G
n.240C>G
n.3242C>G
c.4374C>G (p.Ala1458=)
c.4002C>G (p.Ala1334=)
c.4158C>G (p.Ala1386=)
c.4365C>G (p.Ala1455=)
c.3666C>G (p.Ala1222=)
c.4413C>G (p.Ala1471=)
dbSNP
16g.3736791G=CA2202936717CREBBPc.4419C= (p.Ala1473=)
c.4305C= (p.Ala1435=)
c.3054C= (p.Ala1018=)
n.209C=
n.240C=
n.3242C=
c.4374C= (p.Ala1458=)
c.4002C= (p.Ala1334=)
c.4158C= (p.Ala1386=)
c.4365C= (p.Ala1455=)
c.3666C= (p.Ala1222=)
c.4413C= (p.Ala1471=)
16g.3736791G>TCA493279622CREBBPc.4419C>A (p.Ala1473=)
c.4305C>A (p.Ala1435=)
c.3054C>A (p.Ala1018=)
n.209C>A
n.240C>A
n.3242C>A
c.4374C>A (p.Ala1458=)
c.4002C>A (p.Ala1334=)
c.4158C>A (p.Ala1386=)
c.4365C>A (p.Ala1455=)
c.3666C>A (p.Ala1222=)
c.4413C>A (p.Ala1471=)
dbSNP
16g.3736792delCA493279624CREBBPc.4419del (p.Cys1474ValfsTer?)
c.4305del (p.Cys1436ValfsTer?)
c.3054del (p.Cys1019ValfsTer?)
n.209del
n.240del
n.3242del
c.4374del (p.Cys1459ValfsTer?)
c.4002del (p.Cys1335ValfsTer?)
c.4158del (p.Cys1387ValfsTer?)
c.4365del (p.Cys1456ValfsTer?)
c.3666del (p.Cys1223ValfsTer?)
c.4413del (p.Cys1472ValfsTer?)
COSMIC
16g.3736792G>ACA394564001CREBBPc.4418C>T (p.Ala1473Val)
c.4304C>T (p.Ala1435Val)
c.3053C>T (p.Ala1018Val)
n.208C>T
n.239C>T
n.3241C>T
c.4373C>T (p.Ala1458Val)
c.4001C>T (p.Ala1334Val)
c.4157C>T (p.Ala1386Val)
c.4364C>T (p.Ala1455Val)
c.3665C>T (p.Ala1222Val)
c.4412C>T (p.Ala1471Val)
gnomAD v4
16g.3736792G>CCA394564002CREBBPc.4418C>G (p.Ala1473Gly)
c.4304C>G (p.Ala1435Gly)
c.3053C>G (p.Ala1018Gly)
n.208C>G
n.239C>G
n.3241C>G
c.4373C>G (p.Ala1458Gly)
c.4001C>G (p.Ala1334Gly)
c.4157C>G (p.Ala1386Gly)
c.4364C>G (p.Ala1455Gly)
c.3665C>G (p.Ala1222Gly)
c.4412C>G (p.Ala1471Gly)
16g.3736792G>TCA394564003CREBBPc.4418C>A (p.Ala1473Asp)
c.4304C>A (p.Ala1435Asp)
c.3053C>A (p.Ala1018Asp)
n.208C>A
n.239C>A
n.3241C>A
c.4373C>A (p.Ala1458Asp)
c.4001C>A (p.Ala1334Asp)
c.4157C>A (p.Ala1386Asp)
c.4364C>A (p.Ala1455Asp)
c.3665C>A (p.Ala1222Asp)
c.4412C>A (p.Ala1471Asp)
16g.3736793C>ACA394564006CREBBPc.4417G>T (p.Ala1473Ser)
c.4303G>T (p.Ala1435Ser)
c.3052G>T (p.Ala1018Ser)
n.207G>T
n.238G>T
n.3240G>T
c.4372G>T (p.Ala1458Ser)
c.4000G>T (p.Ala1334Ser)
c.4156G>T (p.Ala1386Ser)
c.4363G>T (p.Ala1455Ser)
c.3664G>T (p.Ala1222Ser)
c.4411G>T (p.Ala1471Ser)
dbSNP
16g.3736793C=CA2202936719CREBBPc.4417G= (p.Ala1473=)
c.4303G= (p.Ala1435=)
c.3052G= (p.Ala1018=)
n.207G=
n.238G=
n.3240G=
c.4372G= (p.Ala1458=)
c.4000G= (p.Ala1334=)
c.4156G= (p.Ala1386=)
c.4363G= (p.Ala1455=)
c.3664G= (p.Ala1222=)
c.4411G= (p.Ala1471=)
16g.3736793C>GCA394564005CREBBPc.4417G>C (p.Ala1473Pro)
c.4303G>C (p.Ala1435Pro)
c.3052G>C (p.Ala1018Pro)
n.207G>C
n.238G>C
n.3240G>C
c.4372G>C (p.Ala1458Pro)
c.4000G>C (p.Ala1334Pro)
c.4156G>C (p.Ala1386Pro)
c.4363G>C (p.Ala1455Pro)
c.3664G>C (p.Ala1222Pro)
c.4411G>C (p.Ala1471Pro)
dbSNP
16g.3736793C>TCA394564004CREBBPc.4417G>A (p.Ala1473Thr)
c.4303G>A (p.Ala1435Thr)
c.3052G>A (p.Ala1018Thr)
n.207G>A
n.238G>A
n.3240G>A
c.4372G>A (p.Ala1458Thr)
c.4000G>A (p.Ala1334Thr)
c.4156G>A (p.Ala1386Thr)
c.4363G>A (p.Ala1455Thr)
c.3664G>A (p.Ala1222Thr)
c.4411G>A (p.Ala1471Thr)
ClinVar dbSNP
16g.3736794C>ACA394564007CREBBPc.4416G>T (p.Trp1472Cys)
c.4302G>T (p.Trp1434Cys)
c.3051G>T (p.Trp1017Cys)
n.206G>T
n.237G>T
n.3239G>T
c.4371G>T (p.Trp1457Cys)
c.3999G>T (p.Trp1333Cys)
c.4155G>T (p.Trp1385Cys)
c.4362G>T (p.Trp1454Cys)
c.3663G>T (p.Trp1221Cys)
c.4410G>T (p.Trp1470Cys)
dbSNP COSMIC
16g.3736794C>GCA394564009CREBBPc.4416G>C (p.Trp1472Cys)
c.4302G>C (p.Trp1434Cys)
c.3051G>C (p.Trp1017Cys)
n.206G>C
n.237G>C
n.3239G>C
c.4371G>C (p.Trp1457Cys)
c.3999G>C (p.Trp1333Cys)
c.4155G>C (p.Trp1385Cys)
c.4362G>C (p.Trp1454Cys)
c.3663G>C (p.Trp1221Cys)
c.4410G>C (p.Trp1470Cys)
dbSNP
16g.3736794C>TCA394564008CREBBPc.4416G>A (p.Trp1472Ter)
c.4302G>A (p.Trp1434Ter)
c.3051G>A (p.Trp1017Ter)
n.206G>A
n.237G>A
n.3239G>A
c.4371G>A (p.Trp1457Ter)
c.3999G>A (p.Trp1333Ter)
c.4155G>A (p.Trp1385Ter)
c.4362G>A (p.Trp1454Ter)
c.3663G>A (p.Trp1221Ter)
c.4410G>A (p.Trp1470Ter)
dbSNP
16g.3736795C>ACA394564010CREBBPc.4415G>T (p.Trp1472Leu)
c.4301G>T (p.Trp1434Leu)
c.3050G>T (p.Trp1017Leu)
n.205G>T
n.236G>T
n.3238G>T
c.4370G>T (p.Trp1457Leu)
c.3998G>T (p.Trp1333Leu)
c.4154G>T (p.Trp1385Leu)
c.4361G>T (p.Trp1454Leu)
c.3662G>T (p.Trp1221Leu)
c.4409G>T (p.Trp1470Leu)
16g.3736795C>GCA394564011CREBBPc.4415G>C (p.Trp1472Ser)
c.4301G>C (p.Trp1434Ser)
c.3050G>C (p.Trp1017Ser)
n.205G>C
n.236G>C
n.3238G>C
c.4370G>C (p.Trp1457Ser)
c.3998G>C (p.Trp1333Ser)
c.4154G>C (p.Trp1385Ser)
c.4361G>C (p.Trp1454Ser)
c.3662G>C (p.Trp1221Ser)
c.4409G>C (p.Trp1470Ser)
dbSNP COSMIC
16g.3736795C>TCA394564012CREBBPc.4415G>A (p.Trp1472Ter)
c.4301G>A (p.Trp1434Ter)
c.3050G>A (p.Trp1017Ter)
n.205G>A
n.236G>A
n.3238G>A
c.4370G>A (p.Trp1457Ter)
c.3998G>A (p.Trp1333Ter)
c.4154G>A (p.Trp1385Ter)
c.4361G>A (p.Trp1454Ter)
c.3662G>A (p.Trp1221Ter)
c.4409G>A (p.Trp1470Ter)
dbSNP
16g.3736796A>CCA394564013CREBBPc.4414T>G (p.Trp1472Gly)
c.4300T>G (p.Trp1434Gly)
c.3049T>G (p.Trp1017Gly)
n.204T>G
n.235T>G
n.3237T>G
c.4369T>G (p.Trp1457Gly)
c.3997T>G (p.Trp1333Gly)
c.4153T>G (p.Trp1385Gly)
c.4360T>G (p.Trp1454Gly)
c.3661T>G (p.Trp1221Gly)
c.4408T>G (p.Trp1470Gly)
COSMIC
16g.3736796A>GCA394564014CREBBPc.4414T>C (p.Trp1472Arg)
c.4300T>C (p.Trp1434Arg)
c.3049T>C (p.Trp1017Arg)
n.204T>C
n.235T>C
n.3237T>C
c.4369T>C (p.Trp1457Arg)
c.3997T>C (p.Trp1333Arg)
c.4153T>C (p.Trp1385Arg)
c.4360T>C (p.Trp1454Arg)
c.3661T>C (p.Trp1221Arg)
c.4408T>C (p.Trp1470Arg)
dbSNP
16g.3736796A>TCA394564015CREBBPc.4414T>A (p.Trp1472Arg)
c.4300T>A (p.Trp1434Arg)
c.3049T>A (p.Trp1017Arg)
n.204T>A
n.235T>A
n.3237T>A
c.4369T>A (p.Trp1457Arg)
c.3997T>A (p.Trp1333Arg)
c.4153T>A (p.Trp1385Arg)
c.4360T>A (p.Trp1454Arg)
c.3661T>A (p.Trp1221Arg)
c.4408T>A (p.Trp1470Arg)
dbSNP COSMIC
16g.3736797G>ACA493279645CREBBPc.4413C>T (p.Ile1471=)
c.4299C>T (p.Ile1433=)
c.3048C>T (p.Ile1016=)
n.203C>T
n.234C>T
n.3236C>T
c.4368C>T (p.Ile1456=)
c.3996C>T (p.Ile1332=)
c.4152C>T (p.Ile1384=)
c.4359C>T (p.Ile1453=)
c.3660C>T (p.Ile1220=)
c.4407C>T (p.Ile1469=)
dbSNP
16g.3736797G>CCA394564016CREBBPc.4413C>G (p.Ile1471Met)
c.4299C>G (p.Ile1433Met)
c.3048C>G (p.Ile1016Met)
n.203C>G
n.234C>G
n.3236C>G
c.4368C>G (p.Ile1456Met)
c.3996C>G (p.Ile1332Met)
c.4152C>G (p.Ile1384Met)
c.4359C>G (p.Ile1453Met)
c.3660C>G (p.Ile1220Met)
c.4407C>G (p.Ile1469Met)
dbSNP COSMIC
16g.3736797G>TCA493279642CREBBPc.4413C>A (p.Ile1471=)
c.4299C>A (p.Ile1433=)
c.3048C>A (p.Ile1016=)
n.203C>A
n.234C>A
n.3236C>A
c.4368C>A (p.Ile1456=)
c.3996C>A (p.Ile1332=)
c.4152C>A (p.Ile1384=)
c.4359C>A (p.Ile1453=)
c.3660C>A (p.Ile1220=)
c.4407C>A (p.Ile1469=)
dbSNP
16g.3736798A>CCA394564017CREBBPc.4412T>G (p.Ile1471Ser)
c.4298T>G (p.Ile1433Ser)
c.3047T>G (p.Ile1016Ser)
n.202T>G
n.233T>G
n.3235T>G
c.4367T>G (p.Ile1456Ser)
c.3995T>G (p.Ile1332Ser)
c.4151T>G (p.Ile1384Ser)
c.4358T>G (p.Ile1453Ser)
c.3659T>G (p.Ile1220Ser)
c.4406T>G (p.Ile1469Ser)
dbSNP
16g.3736798A>GCA394564018CREBBPc.4412T>C (p.Ile1471Thr)
c.4298T>C (p.Ile1433Thr)
c.3047T>C (p.Ile1016Thr)
n.202T>C
n.233T>C
n.3235T>C
c.4367T>C (p.Ile1456Thr)
c.3995T>C (p.Ile1332Thr)
c.4151T>C (p.Ile1384Thr)
c.4358T>C (p.Ile1453Thr)
c.3659T>C (p.Ile1220Thr)
c.4406T>C (p.Ile1469Thr)
16g.3736798A>TCA394564019CREBBPc.4412T>A (p.Ile1471Asn)
c.4298T>A (p.Ile1433Asn)
c.3047T>A (p.Ile1016Asn)
n.202T>A
n.233T>A
n.3235T>A
c.4367T>A (p.Ile1456Asn)
c.3995T>A (p.Ile1332Asn)
c.4151T>A (p.Ile1384Asn)
c.4358T>A (p.Ile1453Asn)
c.3659T>A (p.Ile1220Asn)
c.4406T>A (p.Ile1469Asn)
COSMIC
16g.3736799T>ACA394564022CREBBPc.4411A>T (p.Ile1471Phe)
c.4297A>T (p.Ile1433Phe)
c.3046A>T (p.Ile1016Phe)
n.201A>T
n.232A>T
n.3234A>T
c.4366A>T (p.Ile1456Phe)
c.3994A>T (p.Ile1332Phe)
c.4150A>T (p.Ile1384Phe)
c.4357A>T (p.Ile1453Phe)
c.3658A>T (p.Ile1220Phe)
c.4405A>T (p.Ile1469Phe)
dbSNP
16g.3736799T>CCA394564021CREBBPc.4411A>G (p.Ile1471Val)
c.4297A>G (p.Ile1433Val)
c.3046A>G (p.Ile1016Val)
n.201A>G
n.232A>G
n.3234A>G
c.4366A>G (p.Ile1456Val)
c.3994A>G (p.Ile1332Val)
c.4150A>G (p.Ile1384Val)
c.4357A>G (p.Ile1453Val)
c.3658A>G (p.Ile1220Val)
c.4405A>G (p.Ile1469Val)
16g.3736799T>GCA394564020CREBBPc.4411A>C (p.Ile1471Leu)
c.4297A>C (p.Ile1433Leu)
c.3046A>C (p.Ile1016Leu)
n.201A>C
n.232A>C
n.3234A>C
c.4366A>C (p.Ile1456Leu)
c.3994A>C (p.Ile1332Leu)
c.4150A>C (p.Ile1384Leu)
c.4357A>C (p.Ile1453Leu)
c.3658A>C (p.Ile1220Leu)
c.4405A>C (p.Ile1469Leu)
16g.3736800G>ACA493279652CREBBPc.4410C>T (p.His1470=)
c.4296C>T (p.His1432=)
c.3045C>T (p.His1015=)
n.200C>T
n.231C>T
n.3233C>T
c.4365C>T (p.His1455=)
c.3993C>T (p.His1331=)
c.4149C>T (p.His1383=)
c.4356C>T (p.His1452=)
c.3657C>T (p.His1219=)
c.4404C>T (p.His1468=)
dbSNP gnomAD v4
16g.3736800G>CCA394564023CREBBPc.4410C>G (p.His1470Gln)
c.4296C>G (p.His1432Gln)
c.3045C>G (p.His1015Gln)
n.200C>G
n.231C>G
n.3233C>G
c.4365C>G (p.His1455Gln)
c.3993C>G (p.His1331Gln)
c.4149C>G (p.His1383Gln)
c.4356C>G (p.His1452Gln)
c.3657C>G (p.His1219Gln)
c.4404C>G (p.His1468Gln)
dbSNP
16g.3736800G>TCA394564024CREBBPc.4410C>A (p.His1470Gln)
c.4296C>A (p.His1432Gln)
c.3045C>A (p.His1015Gln)
n.200C>A
n.231C>A
n.3233C>A
c.4365C>A (p.His1455Gln)
c.3993C>A (p.His1331Gln)
c.4149C>A (p.His1383Gln)
c.4356C>A (p.His1452Gln)
c.3657C>A (p.His1219Gln)
c.4404C>A (p.His1468Gln)
16g.3736801T>ACA394564025CREBBPc.4409A>T (p.His1470Leu)
c.4295A>T (p.His1432Leu)
c.3044A>T (p.His1015Leu)
n.199A>T
n.230A>T
n.3232A>T
c.4364A>T (p.His1455Leu)
c.3992A>T (p.His1331Leu)
c.4148A>T (p.His1383Leu)
c.4355A>T (p.His1452Leu)
c.3656A>T (p.His1219Leu)
c.4403A>T (p.His1468Leu)
dbSNP
16g.3736801T>CCA204617CREBBPc.4409A>G (p.His1470Arg)
c.4295A>G (p.His1432Arg)
c.3044A>G (p.His1015Arg)
n.199A>G
n.230A>G
n.3232A>G
c.4364A>G (p.His1455Arg)
c.3992A>G (p.His1331Arg)
c.4148A>G (p.His1383Arg)
c.4355A>G (p.His1452Arg)
c.3656A>G (p.His1219Arg)
c.4403A>G (p.His1468Arg)
ClinVar dbSNP
16g.3736801T>GCA394564026CREBBPc.4409A>C (p.His1470Pro)
c.4295A>C (p.His1432Pro)
c.3044A>C (p.His1015Pro)
n.199A>C
n.230A>C
n.3232A>C
c.4364A>C (p.His1455Pro)
c.3992A>C (p.His1331Pro)
c.4148A>C (p.His1383Pro)
c.4355A>C (p.His1452Pro)
c.3656A>C (p.His1219Pro)
c.4403A>C (p.His1468Pro)
ClinVar dbSNP
16g.3736801T=CA2202936721CREBBPc.4409A= (p.His1470=)
c.4295A= (p.His1432=)
c.3044A= (p.His1015=)
n.199A=
n.230A=
n.3232A=
c.4364A= (p.His1455=)
c.3992A= (p.His1331=)
c.4148A= (p.His1383=)
c.4355A= (p.His1452=)
c.3656A= (p.His1219=)
c.4403A= (p.His1468=)
16g.3736802G>ACA394564027CREBBPc.4408C>T (p.His1470Tyr)
c.4294C>T (p.His1432Tyr)
c.3043C>T (p.His1015Tyr)
n.198C>T
n.229C>T
n.3231C>T
c.4363C>T (p.His1455Tyr)
c.3991C>T (p.His1331Tyr)
c.4147C>T (p.His1383Tyr)
c.4354C>T (p.His1452Tyr)
c.3655C>T (p.His1219Tyr)
c.4402C>T (p.His1468Tyr)
dbSNP
16g.3736802G>CCA394564028CREBBPc.4408C>G (p.His1470Asp)
c.4294C>G (p.His1432Asp)
c.3043C>G (p.His1015Asp)
n.198C>G
n.229C>G
n.3231C>G
c.4363C>G (p.His1455Asp)
c.3991C>G (p.His1331Asp)
c.4147C>G (p.His1383Asp)
c.4354C>G (p.His1452Asp)
c.3655C>G (p.His1219Asp)
c.4402C>G (p.His1468Asp)
dbSNP
16g.3736802G>TCA394564029CREBBPc.4408C>A (p.His1470Asn)
c.4294C>A (p.His1432Asn)
c.3043C>A (p.His1015Asn)
n.198C>A
n.229C>A
n.3231C>A
c.4363C>A (p.His1455Asn)
c.3991C>A (p.His1331Asn)
c.4147C>A (p.His1383Asn)
c.4354C>A (p.His1452Asn)
c.3655C>A (p.His1219Asn)
c.4402C>A (p.His1468Asn)
16g.3736803C>ACA493279665CREBBPc.4407G>T (p.Gly1469=)
c.4293G>T (p.Gly1431=)
c.3042G>T (p.Gly1014=)
n.197G>T
n.228G>T
n.3230G>T
c.4362G>T (p.Gly1454=)
c.3990G>T (p.Gly1330=)
c.4146G>T (p.Gly1382=)
c.4353G>T (p.Gly1451=)
c.3654G>T (p.Gly1218=)
c.4401G>T (p.Gly1467=)
dbSNP
16g.3736803C=CA2202936723CREBBPc.4407G= (p.Gly1469=)
c.4293G= (p.Gly1431=)
c.3042G= (p.Gly1014=)
n.197G=
n.228G=
n.3230G=
c.4362G= (p.Gly1454=)
c.3990G= (p.Gly1330=)
c.4146G= (p.Gly1382=)
c.4353G= (p.Gly1451=)
c.3654G= (p.Gly1218=)
c.4401G= (p.Gly1467=)
16g.3736803C>GCA493279667CREBBPc.4407G>C (p.Gly1469=)
c.4293G>C (p.Gly1431=)
c.3042G>C (p.Gly1014=)
n.197G>C
n.228G>C
n.3230G>C
c.4362G>C (p.Gly1454=)
c.3990G>C (p.Gly1330=)
c.4146G>C (p.Gly1382=)
c.4353G>C (p.Gly1451=)
c.3654G>C (p.Gly1218=)
c.4401G>C (p.Gly1467=)
dbSNP
16g.3736803C>TCA276980128CREBBPc.4407G>A (p.Gly1469=)
c.4293G>A (p.Gly1431=)
c.3042G>A (p.Gly1014=)
n.197G>A
n.228G>A
n.3230G>A
c.4362G>A (p.Gly1454=)
c.3990G>A (p.Gly1330=)
c.4146G>A (p.Gly1382=)
c.4353G>A (p.Gly1451=)
c.3654G>A (p.Gly1218=)
c.4401G>A (p.Gly1467=)
dbSNP gnomAD v3 gnomAD v4
16g.3736804C>ACA394564030CREBBPc.4406G>T (p.Gly1469Val)
c.4292G>T (p.Gly1431Val)
c.3041G>T (p.Gly1014Val)
n.196G>T
n.227G>T
n.3229G>T
c.4361G>T (p.Gly1454Val)
c.3989G>T (p.Gly1330Val)
c.4145G>T (p.Gly1382Val)
c.4352G>T (p.Gly1451Val)
c.3653G>T (p.Gly1218Val)
c.4400G>T (p.Gly1467Val)
dbSNP
16g.3736804C>GCA394564031CREBBPc.4406G>C (p.Gly1469Ala)
c.4292G>C (p.Gly1431Ala)
c.3041G>C (p.Gly1014Ala)
n.196G>C
n.227G>C
n.3229G>C
c.4361G>C (p.Gly1454Ala)
c.3989G>C (p.Gly1330Ala)
c.4145G>C (p.Gly1382Ala)
c.4352G>C (p.Gly1451Ala)
c.3653G>C (p.Gly1218Ala)
c.4400G>C (p.Gly1467Ala)
dbSNP
16g.3736804C>TCA394564032CREBBPc.4406G>A (p.Gly1469Glu)
c.4292G>A (p.Gly1431Glu)
c.3041G>A (p.Gly1014Glu)
n.196G>A
n.227G>A
n.3229G>A
c.4361G>A (p.Gly1454Glu)
c.3989G>A (p.Gly1330Glu)
c.4145G>A (p.Gly1382Glu)
c.4352G>A (p.Gly1451Glu)
c.3653G>A (p.Gly1218Glu)
c.4400G>A (p.Gly1467Glu)
16g.3736805C>ACA394564034CREBBPc.4405G>T (p.Gly1469Trp)
c.4291G>T (p.Gly1431Trp)
c.3040G>T (p.Gly1014Trp)
n.195G>T
n.226G>T
n.3228G>T
c.4360G>T (p.Gly1454Trp)
c.3988G>T (p.Gly1330Trp)
c.4144G>T (p.Gly1382Trp)
c.4351G>T (p.Gly1451Trp)
c.3652G>T (p.Gly1218Trp)
c.4399G>T (p.Gly1467Trp)
dbSNP
16g.3736805C=CA2202936724CREBBPc.4405G= (p.Gly1469=)
c.4291G= (p.Gly1431=)
c.3040G= (p.Gly1014=)
n.195G=
n.226G=
n.3228G=
c.4360G= (p.Gly1454=)
c.3988G= (p.Gly1330=)
c.4144G= (p.Gly1382=)
c.4351G= (p.Gly1451=)
c.3652G= (p.Gly1218=)
c.4399G= (p.Gly1467=)
16g.3736805C>GCA394564035CREBBPc.4405G>C (p.Gly1469Arg)
c.4291G>C (p.Gly1431Arg)
c.3040G>C (p.Gly1014Arg)
n.195G>C
n.226G>C
n.3228G>C
c.4360G>C (p.Gly1454Arg)
c.3988G>C (p.Gly1330Arg)
c.4144G>C (p.Gly1382Arg)
c.4351G>C (p.Gly1451Arg)
c.3652G>C (p.Gly1218Arg)
c.4399G>C (p.Gly1467Arg)
dbSNP
16g.3736805C>TCA394564033CREBBPc.4405G>A (p.Gly1469Arg)
c.4291G>A (p.Gly1431Arg)
c.3040G>A (p.Gly1014Arg)
n.195G>A
n.226G>A
n.3228G>A
c.4360G>A (p.Gly1454Arg)
c.3988G>A (p.Gly1330Arg)
c.4144G>A (p.Gly1382Arg)
c.4351G>A (p.Gly1451Arg)
c.3652G>A (p.Gly1218Arg)
c.4399G>A (p.Gly1467Arg)
dbSNP
16g.3736805_3736806delCA645575178CREBBPc.4404_4405del (p.Gly1469AlafsTer9)
c.4290_4291del (p.Gly1431AlafsTer9)
c.3039_3040del (p.Gly1014AlafsTer9)
n.194_195del
n.225_226del
n.3227_3228del
c.4359_4360del (p.Gly1454AlafsTer9)
c.3987_3988del (p.Gly1330AlafsTer9)
c.4143_4144del (p.Gly1382AlafsTer9)
c.4350_4351del (p.Gly1451AlafsTer9)
c.3651_3652del (p.Gly1218AlafsTer9)
c.4398_4399del (p.Gly1467AlafsTer9)
ClinVar dbSNP COSMIC
16g.3736806T>ACA493279676CREBBPc.4404A>T (p.Thr1468=)
c.4290A>T (p.Thr1430=)
c.3039A>T (p.Thr1013=)
n.194A>T
n.225A>T
n.3227A>T
c.4359A>T (p.Thr1453=)
c.3987A>T (p.Thr1329=)
c.4143A>T (p.Thr1381=)
c.4350A>T (p.Thr1450=)
c.3651A>T (p.Thr1217=)
c.4398A>T (p.Thr1466=)
dbSNP
16g.3736806T>CCA493279678CREBBPc.4404A>G (p.Thr1468=)
c.4290A>G (p.Thr1430=)
c.3039A>G (p.Thr1013=)
n.194A>G
n.225A>G
n.3227A>G
c.4359A>G (p.Thr1453=)
c.3987A>G (p.Thr1329=)
c.4143A>G (p.Thr1381=)
c.4350A>G (p.Thr1450=)
c.3651A>G (p.Thr1217=)
c.4398A>G (p.Thr1466=)
dbSNP
16g.3736806T>GCA493279679CREBBPc.4404A>C (p.Thr1468=)
c.4290A>C (p.Thr1430=)
c.3039A>C (p.Thr1013=)
n.194A>C
n.225A>C
n.3227A>C
c.4359A>C (p.Thr1453=)
c.3987A>C (p.Thr1329=)
c.4143A>C (p.Thr1381=)
c.4350A>C (p.Thr1450=)
c.3651A>C (p.Thr1217=)
c.4398A>C (p.Thr1466=)
16g.3736806dupCA1139664475CREBBPc.4404dup (p.Gly1469ArgfsTer10)
c.4290dup (p.Gly1431ArgfsTer10)
c.3039dup (p.Gly1014ArgfsTer10)
n.194dup
n.225dup
n.3227dup
c.4359dup (p.Gly1454ArgfsTer10)
c.3987dup (p.Gly1330ArgfsTer10)
c.4143dup (p.Gly1382ArgfsTer10)
c.4350dup (p.Gly1451ArgfsTer10)
c.3651dup (p.Gly1218ArgfsTer10)
c.4398dup (p.Gly1467ArgfsTer10)
ClinVar dbSNP
16g.3736807G>ACA7869520CREBBPc.4403C>T (p.Thr1468Ile)
c.4289C>T (p.Thr1430Ile)
c.3038C>T (p.Thr1013Ile)
n.193C>T
n.224C>T
n.3226C>T
c.4358C>T (p.Thr1453Ile)
c.3986C>T (p.Thr1329Ile)
c.4142C>T (p.Thr1381Ile)
c.4349C>T (p.Thr1450Ile)
c.3650C>T (p.Thr1217Ile)
c.4397C>T (p.Thr1466Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736807G>CCA394564036CREBBPc.4403C>G (p.Thr1468Arg)
c.4289C>G (p.Thr1430Arg)
c.3038C>G (p.Thr1013Arg)
n.193C>G
n.224C>G
n.3226C>G
c.4358C>G (p.Thr1453Arg)
c.3986C>G (p.Thr1329Arg)
c.4142C>G (p.Thr1381Arg)
c.4349C>G (p.Thr1450Arg)
c.3650C>G (p.Thr1217Arg)
c.4397C>G (p.Thr1466Arg)
dbSNP
16g.3736807G=CA2202936727CREBBPc.4403C= (p.Thr1468=)
c.4289C= (p.Thr1430=)
c.3038C= (p.Thr1013=)
n.193C=
n.224C=
n.3226C=
c.4358C= (p.Thr1453=)
c.3986C= (p.Thr1329=)
c.4142C= (p.Thr1381=)
c.4349C= (p.Thr1450=)
c.3650C= (p.Thr1217=)
c.4397C= (p.Thr1466=)
16g.3736807G>TCA394564037CREBBPc.4403C>A (p.Thr1468Lys)
c.4289C>A (p.Thr1430Lys)
c.3038C>A (p.Thr1013Lys)
n.193C>A
n.224C>A
n.3226C>A
c.4358C>A (p.Thr1453Lys)
c.3986C>A (p.Thr1329Lys)
c.4142C>A (p.Thr1381Lys)
c.4349C>A (p.Thr1450Lys)
c.3650C>A (p.Thr1217Lys)
c.4397C>A (p.Thr1466Lys)
16g.3736808T>ACA394564038CREBBPc.4402A>T (p.Thr1468Ser)
c.4288A>T (p.Thr1430Ser)
c.3037A>T (p.Thr1013Ser)
n.192A>T
n.223A>T
n.3225A>T
c.4357A>T (p.Thr1453Ser)
c.3985A>T (p.Thr1329Ser)
c.4141A>T (p.Thr1381Ser)
c.4348A>T (p.Thr1450Ser)
c.3649A>T (p.Thr1217Ser)
c.4396A>T (p.Thr1466Ser)
16g.3736808T>CCA394564039CREBBPc.4402A>G (p.Thr1468Ala)
c.4288A>G (p.Thr1430Ala)
c.3037A>G (p.Thr1013Ala)
n.192A>G
n.223A>G
n.3225A>G
c.4357A>G (p.Thr1453Ala)
c.3985A>G (p.Thr1329Ala)
c.4141A>G (p.Thr1381Ala)
c.4348A>G (p.Thr1450Ala)
c.3649A>G (p.Thr1217Ala)
c.4396A>G (p.Thr1466Ala)
16g.3736808T>GCA394564040CREBBPc.4402A>C (p.Thr1468Pro)
c.4288A>C (p.Thr1430Pro)
c.3037A>C (p.Thr1013Pro)
n.192A>C
n.223A>C
n.3225A>C
c.4357A>C (p.Thr1453Pro)
c.3985A>C (p.Thr1329Pro)
c.4141A>C (p.Thr1381Pro)
c.4348A>C (p.Thr1450Pro)
c.3649A>C (p.Thr1217Pro)
c.4396A>C (p.Thr1466Pro)

Number of alleles fetched