Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3810604_3810611dupCA915949054CREBBPc.967_974dup (p.Met325IlefsTer32)
c.913_920dup (p.Met307IlefsTer32)
c.214_221dup (p.Met74IlefsTer32)
 ClinVar dbSNP
16g.3810609T>ACA493277581CREBBPc.969A>T (p.Pro323=)
c.915A>T (p.Pro305=)
c.216A>T (p.Pro72=)
16g.3810609T>CCA493277580CREBBPc.969A>G (p.Pro323=)
c.915A>G (p.Pro305=)
c.216A>G (p.Pro72=)
 gnomAD v4
16g.3810609T>GCA493277579CREBBPc.969A>C (p.Pro323=)
c.915A>C (p.Pro305=)
c.216A>C (p.Pro72=)
16g.3810610G>ACA394565849CREBBPc.968C>T (p.Pro323Leu)
c.914C>T (p.Pro305Leu)
c.215C>T (p.Pro72Leu)
16g.3810610G>CCA394565850CREBBPc.968C>G (p.Pro323Arg)
c.914C>G (p.Pro305Arg)
c.215C>G (p.Pro72Arg)
16g.3810610G>TCA394565851CREBBPc.968C>A (p.Pro323Gln)
c.914C>A (p.Pro305Gln)
c.215C>A (p.Pro72Gln)
16g.3810611G>ACA7870554CREBBPc.967C>T (p.Pro323Ser)
c.913C>T (p.Pro305Ser)
c.214C>T (p.Pro72Ser)
 dbSNP ExAC gnomAD v2
16g.3810611G>CCA394565853CREBBPc.967C>G (p.Pro323Ala)
c.913C>G (p.Pro305Ala)
c.214C>G (p.Pro72Ala)
16g.3810611G=CA2202971815CREBBPc.967C= (p.Pro323=)
c.913C= (p.Pro305=)
c.214C= (p.Pro72=)
16g.3810611G>TCA394565852CREBBPc.967C>A (p.Pro323Thr)
c.913C>A (p.Pro305Thr)
c.214C>A (p.Pro72Thr)
16g.3810612C>ACA493277582CREBBPc.966G>T (p.Val322=)
c.912G>T (p.Val304=)
c.213G>T (p.Val71=)
16g.3810612C=CA2202971816CREBBPc.966G= (p.Val322=)
c.912G= (p.Val304=)
c.213G= (p.Val71=)
16g.3810612C>GCA493277583CREBBPc.966G>C (p.Val322=)
c.912G>C (p.Val304=)
c.213G>C (p.Val71=)
16g.3810612C>TCA277007729CREBBPc.966G>A (p.Val322=)
c.912G>A (p.Val304=)
c.213G>A (p.Val71=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3810613A>CCA394565856CREBBPc.965T>G (p.Val322Gly)
c.911T>G (p.Val304Gly)
c.212T>G (p.Val71Gly)
16g.3810613A>GCA394565854CREBBPc.965T>C (p.Val322Ala)
c.911T>C (p.Val304Ala)
c.212T>C (p.Val71Ala)
16g.3810613A>TCA394565855CREBBPc.965T>A (p.Val322Glu)
c.911T>A (p.Val304Glu)
c.212T>A (p.Val71Glu)
16g.3810614C>ACA277007734CREBBPc.964G>T (p.Val322Leu)
c.910G>T (p.Val304Leu)
c.211G>T (p.Val71Leu)
 dbSNP
16g.3810614C=CA2202971817CREBBPc.964G= (p.Val322=)
c.910G= (p.Val304=)
c.211G= (p.Val71=)
16g.3810614C>GCA158190CREBBPc.964G>C (p.Val322Leu)
c.910G>C (p.Val304Leu)
c.211G>C (p.Val71Leu)
 ClinVar dbSNP
16g.3810614C>TCA277007739CREBBPc.964G>A (p.Val322Met)
c.910G>A (p.Val304Met)
c.211G>A (p.Val71Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810615G>ACA7870555CREBBPc.963C>T (p.Asn321=)
c.909C>T (p.Asn303=)
c.210C>T (p.Asn70=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810615G>CCA394565858CREBBPc.963C>G (p.Asn321Lys)
c.909C>G (p.Asn303Lys)
c.210C>G (p.Asn70Lys)
16g.3810615G=CA2202971818CREBBPc.963C= (p.Asn321=)
c.909C= (p.Asn303=)
c.210C= (p.Asn70=)
16g.3810615G>TCA394565857CREBBPc.963C>A (p.Asn321Lys)
c.909C>A (p.Asn303Lys)
c.210C>A (p.Asn70Lys)
 gnomAD v4
16g.3810616T>ACA394565859CREBBPc.962A>T (p.Asn321Ile)
c.908A>T (p.Asn303Ile)
c.209A>T (p.Asn70Ile)
16g.3810616T>CCA7870556CREBBPc.962A>G (p.Asn321Ser)
c.908A>G (p.Asn303Ser)
c.209A>G (p.Asn70Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810616T>GCA394565860CREBBPc.962A>C (p.Asn321Thr)
c.908A>C (p.Asn303Thr)
c.209A>C (p.Asn70Thr)
16g.3810616T=CA2202971819CREBBPc.962A= (p.Asn321=)
c.908A= (p.Asn303=)
c.209A= (p.Asn70=)
16g.3810617T>ACA394565861CREBBPc.961A>T (p.Asn321Tyr)
c.907A>T (p.Asn303Tyr)
c.208A>T (p.Asn70Tyr)
16g.3810617T>CCA394565862CREBBPc.961A>G (p.Asn321Asp)
c.907A>G (p.Asn303Asp)
c.208A>G (p.Asn70Asp)
16g.3810617T>GCA394565863CREBBPc.961A>C (p.Asn321His)
c.907A>C (p.Asn303His)
c.208A>C (p.Asn70His)
 dbSNP
16g.3810619_3810625delCA2695222698CREBBPc.955_961del (p.Val319ThrfsTer?)
c.901_907del (p.Val301ThrfsTer?)
c.202_208del (p.Val68ThrfsTer?)
16g.3810618G>ACA277007748CREBBPc.960C>T (p.Thr320=)
c.906C>T (p.Thr302=)
c.207C>T (p.Thr69=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3810618G>CCA493277585CREBBPc.960C>G (p.Thr320=)
c.906C>G (p.Thr302=)
c.207C>G (p.Thr69=)
16g.3810618G=CA2202971820CREBBPc.960C= (p.Thr320=)
c.906C= (p.Thr302=)
c.207C= (p.Thr69=)
16g.3810618G>TCA493277584CREBBPc.960C>A (p.Thr320=)
c.906C>A (p.Thr302=)
c.207C>A (p.Thr69=)
16g.3810619G>ACA394565864CREBBPc.959C>T (p.Thr320Ile)
c.905C>T (p.Thr302Ile)
c.206C>T (p.Thr69Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3810619G>CCA394565866CREBBPc.959C>G (p.Thr320Ser)
c.905C>G (p.Thr302Ser)
c.206C>G (p.Thr69Ser)
 ClinVar gnomAD v4
16g.3810619G=CA2202971821CREBBPc.959C= (p.Thr320=)
c.905C= (p.Thr302=)
c.206C= (p.Thr69=)
16g.3810619G>TCA394565865CREBBPc.959C>A (p.Thr320Asn)
c.905C>A (p.Thr302Asn)
c.206C>A (p.Thr69Asn)
16g.3810620T>ACA394565867CREBBPc.958A>T (p.Thr320Ser)
c.904A>T (p.Thr302Ser)
c.205A>T (p.Thr69Ser)
16g.3810620T>CCA394565868CREBBPc.958A>G (p.Thr320Ala)
c.904A>G (p.Thr302Ala)
c.205A>G (p.Thr69Ala)
16g.3810620T>GCA394565869CREBBPc.958A>C (p.Thr320Pro)
c.904A>C (p.Thr302Pro)
c.205A>C (p.Thr69Pro)
16g.3810620_3810623delinsTGACCA2202971822CREBBPc.955_958delinsGTCA (p.Val319=)
c.901_904delinsGTCA (p.Val301=)
c.202_205delinsGTCA (p.Val68=)
16g.3810621G>ACA493277587CREBBPc.957C>T (p.Val319=)
c.903C>T (p.Val301=)
c.204C>T (p.Val68=)
16g.3810621G>CCA493277588CREBBPc.957C>G (p.Val319=)
c.903C>G (p.Val301=)
c.204C>G (p.Val68=)
16g.3810621G>TCA493277589CREBBPc.957C>A (p.Val319=)
c.903C>A (p.Val301=)
c.204C>A (p.Val68=)
16g.3810621_3810623delCA493277590CREBBPc.955_957del (p.Val319del)
c.901_903del (p.Val301del)
c.202_204del (p.Val68del)
 dbSNP gnomAD v4
16g.3810622A>CCA394565870CREBBPc.956T>G (p.Val319Gly)
c.902T>G (p.Val301Gly)
c.203T>G (p.Val68Gly)
16g.3810622A>GCA394565871CREBBPc.956T>C (p.Val319Ala)
c.902T>C (p.Val301Ala)
c.203T>C (p.Val68Ala)
16g.3810622A>TCA394565872CREBBPc.956T>A (p.Val319Asp)
c.902T>A (p.Val301Asp)
c.203T>A (p.Val68Asp)
16g.3810623C>ACA394565873CREBBPc.955G>T (p.Val319Phe)
c.901G>T (p.Val301Phe)
c.202G>T (p.Val68Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.3810623C=CA2202971823CREBBPc.955G= (p.Val319=)
c.901G= (p.Val301=)
c.202G= (p.Val68=)
16g.3810623C>GCA394565874CREBBPc.955G>C (p.Val319Leu)
c.901G>C (p.Val301Leu)
c.202G>C (p.Val68Leu)
 dbSNP
16g.3810623C>TCA394565875CREBBPc.955G>A (p.Val319Ile)
c.901G>A (p.Val301Ile)
c.202G>A (p.Val68Ile)
 ClinVar
16g.3810624T>ACA493277591CREBBPc.954A>T (p.Ser318=)
c.900A>T (p.Ser300=)
c.201A>T (p.Ser67=)
16g.3810624T>CCA493277592CREBBPc.954A>G (p.Ser318=)
c.900A>G (p.Ser300=)
c.201A>G (p.Ser67=)
 gnomAD v4
16g.3810624T>GCA493277593CREBBPc.954A>C (p.Ser318=)
c.900A>C (p.Ser300=)
c.201A>C (p.Ser67=)
 dbSNP gnomAD v2 gnomAD v4
16g.3810624T=CA2202971824CREBBPc.954A= (p.Ser318=)
c.900A= (p.Ser300=)
c.201A= (p.Ser67=)
16g.3810625G>ACA394565876CREBBPc.953C>T (p.Ser318Leu)
c.899C>T (p.Ser300Leu)
c.200C>T (p.Ser67Leu)
 dbSNP
16g.3810625G>CCA394565877CREBBPc.953C>G (p.Ser318Ter)
c.899C>G (p.Ser300Ter)
c.200C>G (p.Ser67Ter)
16g.3810625G=CA2202971825CREBBPc.953C= (p.Ser318=)
c.899C= (p.Ser300=)
c.200C= (p.Ser67=)
16g.3810625G>TCA271443CREBBPc.953C>A (p.Ser318Ter)
c.899C>A (p.Ser300Ter)
c.200C>A (p.Ser67Ter)
 ClinVar dbSNP
16g.3810626A=CA2202971826CREBBPc.952T= (p.Ser318=)
c.898T= (p.Ser300=)
c.199T= (p.Ser67=)
16g.3810626A>CCA394565878CREBBPc.952T>G (p.Ser318Ala)
c.898T>G (p.Ser300Ala)
c.199T>G (p.Ser67Ala)
16g.3810626A>GCA394565879CREBBPc.952T>C (p.Ser318Pro)
c.898T>C (p.Ser300Pro)
c.199T>C (p.Ser67Pro)
16g.3810626A>TCA277007759CREBBPc.952T>A (p.Ser318Thr)
c.898T>A (p.Ser300Thr)
c.199T>A (p.Ser67Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.3810627A=CA2202971827CREBBPc.951T= (p.Thr317=)
c.897T= (p.Thr299=)
c.198T= (p.Thr66=)
16g.3810627A>CCA7870557CREBBPc.951T>G (p.Thr317=)
c.897T>G (p.Thr299=)
c.198T>G (p.Thr66=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810627A>GCA493277595CREBBPc.951T>C (p.Thr317=)
c.897T>C (p.Thr299=)
c.198T>C (p.Thr66=)
16g.3810627A>TCA493277594CREBBPc.951T>A (p.Thr317=)
c.897T>A (p.Thr299=)
c.198T>A (p.Thr66=)
16g.3810628G>ACA394565882CREBBPc.950C>T (p.Thr317Ile)
c.896C>T (p.Thr299Ile)
c.197C>T (p.Thr66Ile)
 dbSNP gnomAD v4
16g.3810628G>CCA394565880CREBBPc.950C>G (p.Thr317Ser)
c.896C>G (p.Thr299Ser)
c.197C>G (p.Thr66Ser)
16g.3810628G=CA2202971828CREBBPc.950C= (p.Thr317=)
c.896C= (p.Thr299=)
c.197C= (p.Thr66=)
16g.3810628G>TCA394565881CREBBPc.950C>A (p.Thr317Asn)
c.896C>A (p.Thr299Asn)
c.197C>A (p.Thr66Asn)
16g.3810629T>ACA394565883CREBBPc.949A>T (p.Thr317Ser)
c.895A>T (p.Thr299Ser)
c.196A>T (p.Thr66Ser)
16g.3810629T>CCA394565884CREBBPc.949A>G (p.Thr317Ala)
c.895A>G (p.Thr299Ala)
c.196A>G (p.Thr66Ala)
16g.3810629T>GCA394565885CREBBPc.949A>C (p.Thr317Pro)
c.895A>C (p.Thr299Pro)
c.196A>C (p.Thr66Pro)
16g.3810630A>CCA394565886CREBBPc.948T>G (p.Asn316Lys)
c.894T>G (p.Asn298Lys)
c.195T>G (p.Asn65Lys)
16g.3810630A>GCA493277598CREBBPc.948T>C (p.Asn316=)
c.894T>C (p.Asn298=)
c.195T>C (p.Asn65=)
16g.3810630A>TCA394565887CREBBPc.948T>A (p.Asn316Lys)
c.894T>A (p.Asn298Lys)
c.195T>A (p.Asn65Lys)
16g.3810631T>ACA394565888CREBBPc.947A>T (p.Asn316Ile)
c.893A>T (p.Asn298Ile)
c.194A>T (p.Asn65Ile)
16g.3810631T>CCA394565889CREBBPc.947A>G (p.Asn316Ser)
c.893A>G (p.Asn298Ser)
c.194A>G (p.Asn65Ser)
16g.3810631T>GCA394565890CREBBPc.947A>C (p.Asn316Thr)
c.893A>C (p.Asn298Thr)
c.194A>C (p.Asn65Thr)
16g.3810632T>ACA394565891CREBBPc.946A>T (p.Asn316Tyr)
c.892A>T (p.Asn298Tyr)
c.193A>T (p.Asn65Tyr)
16g.3810632T>CCA394565892CREBBPc.946A>G (p.Asn316Asp)
c.892A>G (p.Asn298Asp)
c.193A>G (p.Asn65Asp)
16g.3810632T>GCA394565893CREBBPc.946A>C (p.Asn316His)
c.892A>C (p.Asn298His)
c.193A>C (p.Asn65His)
16g.3810633C>ACA394565894CREBBPc.945G>T (p.Lys315Asn)
c.891G>T (p.Lys297Asn)
c.192G>T (p.Lys64Asn)
 gnomAD v4
16g.3810633C=CA2202971829CREBBPc.945G= (p.Lys315=)
c.891G= (p.Lys297=)
c.192G= (p.Lys64=)
16g.3810633C>GCA394565895CREBBPc.945G>C (p.Lys315Asn)
c.891G>C (p.Lys297Asn)
c.192G>C (p.Lys64Asn)
16g.3810633C>TCA7870558CREBBPc.945G>A (p.Lys315=)
c.891G>A (p.Lys297=)
c.192G>A (p.Lys64=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810634T>ACA394565896CREBBPc.944A>T (p.Lys315Met)
c.890A>T (p.Lys297Met)
c.191A>T (p.Lys64Met)
16g.3810634T>CCA7870559CREBBPc.944A>G (p.Lys315Arg)
c.890A>G (p.Lys297Arg)
c.191A>G (p.Lys64Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810634T>GCA394565897CREBBPc.944A>C (p.Lys315Thr)
c.890A>C (p.Lys297Thr)
c.191A>C (p.Lys64Thr)
16g.3810634T=CA2202971830CREBBPc.944A= (p.Lys315=)
c.890A= (p.Lys297=)
c.191A= (p.Lys64=)
16g.3810635T>ACA394565898CREBBPc.943A>T (p.Lys315Ter)
c.889A>T (p.Lys297Ter)
c.190A>T (p.Lys64Ter)
16g.3810635T>CCA394565899CREBBPc.943A>G (p.Lys315Glu)
c.889A>G (p.Lys297Glu)
c.190A>G (p.Lys64Glu)
16g.3810635T>GCA394565900CREBBPc.943A>C (p.Lys315Gln)
c.889A>C (p.Lys297Gln)
c.190A>C (p.Lys64Gln)
16g.3810636delCA2731708671CREBBPc.942del (p.Lys315ArgfsTer?)
c.888del (p.Lys297ArgfsTer?)
c.189del (p.Lys64ArgfsTer?)
 dbSNP
16g.3810636G>ACA493277599CREBBPc.942C>T (p.Ile314=)
c.888C>T (p.Ile296=)
c.189C>T (p.Ile63=)
 COSMIC
16g.3810636G>CCA7870560CREBBPc.942C>G (p.Ile314Met)
c.888C>G (p.Ile296Met)
c.189C>G (p.Ile63Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810636G=CA2202971831CREBBPc.942C= (p.Ile314=)
c.888C= (p.Ile296=)
c.189C= (p.Ile63=)
16g.3810636G>TCA493277600CREBBPc.942C>A (p.Ile314=)
c.888C>A (p.Ile296=)
c.189C>A (p.Ile63=)
16g.3810637A=CA2202971832CREBBPc.941T= (p.Ile314=)
c.887T= (p.Ile296=)
c.188T= (p.Ile63=)
16g.3810637A>CCA394565901CREBBPc.941T>G (p.Ile314Ser)
c.887T>G (p.Ile296Ser)
c.188T>G (p.Ile63Ser)
16g.3810637A>GCA7870561CREBBPc.941T>C (p.Ile314Thr)
c.887T>C (p.Ile296Thr)
c.188T>C (p.Ile63Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810637A>TCA394565902CREBBPc.941T>A (p.Ile314Asn)
c.887T>A (p.Ile296Asn)
c.188T>A (p.Ile63Asn)
16g.3810638T>ACA394565904CREBBPc.940A>T (p.Ile314Phe)
c.886A>T (p.Ile296Phe)
c.187A>T (p.Ile63Phe)
 gnomAD v4
16g.3810638T>CCA394565905CREBBPc.940A>G (p.Ile314Val)
c.886A>G (p.Ile296Val)
c.187A>G (p.Ile63Val)
16g.3810638T>GCA394565903CREBBPc.940A>C (p.Ile314Leu)
c.886A>C (p.Ile296Leu)
c.187A>C (p.Ile63Leu)
16g.3810639A=CA2202971833CREBBPc.939T= (p.Asp313=)
c.885T= (p.Asp295=)
c.186T= (p.Asp62=)
16g.3810639A>CCA394565906CREBBPc.939T>G (p.Asp313Glu)
c.885T>G (p.Asp295Glu)
c.186T>G (p.Asp62Glu)
 gnomAD v4
16g.3810639A>GCA148154CREBBPc.939T>C (p.Asp313=)
c.885T>C (p.Asp295=)
c.186T>C (p.Asp62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810639A>TCA394565907CREBBPc.939T>A (p.Asp313Glu)
c.885T>A (p.Asp295Glu)
c.186T>A (p.Asp62Glu)
16g.3810640T>ACA394565908CREBBPc.938A>T (p.Asp313Val)
c.884A>T (p.Asp295Val)
c.185A>T (p.Asp62Val)
16g.3810640T>CCA394565909CREBBPc.938A>G (p.Asp313Gly)
c.884A>G (p.Asp295Gly)
c.185A>G (p.Asp62Gly)
16g.3810640T>GCA394565910CREBBPc.938A>C (p.Asp313Ala)
c.884A>C (p.Asp295Ala)
c.185A>C (p.Asp62Ala)
16g.3810641C>ACA394565911CREBBPc.937G>T (p.Asp313Tyr)
c.883G>T (p.Asp295Tyr)
c.184G>T (p.Asp62Tyr)
16g.3810641C>GCA394565912CREBBPc.937G>C (p.Asp313His)
c.883G>C (p.Asp295His)
c.184G>C (p.Asp62His)
16g.3810641C>TCA394565913CREBBPc.937G>A (p.Asp313Asn)
c.883G>A (p.Asp295Asn)
c.184G>A (p.Asp62Asn)
 gnomAD v4
16g.3810642T>ACA493277601CREBBPc.936A>T (p.Thr312=)
c.882A>T (p.Thr294=)
c.183A>T (p.Thr61=)
16g.3810642T>CCA493277602CREBBPc.936A>G (p.Thr312=)
c.882A>G (p.Thr294=)
c.183A>G (p.Thr61=)
16g.3810642T>GCA493277603CREBBPc.936A>C (p.Thr312=)
c.882A>C (p.Thr294=)
c.183A>C (p.Thr61=)
16g.3810643G>ACA394565914CREBBPc.935C>T (p.Thr312Ile)
c.881C>T (p.Thr294Ile)
c.182C>T (p.Thr61Ile)
 dbSNP gnomAD v4
16g.3810643G>CCA394565915CREBBPc.935C>G (p.Thr312Arg)
c.881C>G (p.Thr294Arg)
c.182C>G (p.Thr61Arg)
16g.3810643G=CA2202971834CREBBPc.935C= (p.Thr312=)
c.881C= (p.Thr294=)
c.182C= (p.Thr61=)
16g.3810643G>TCA394565916CREBBPc.935C>A (p.Thr312Lys)
c.881C>A (p.Thr294Lys)
c.182C>A (p.Thr61Lys)
16g.3810644T>ACA394565918CREBBPc.934A>T (p.Thr312Ser)
c.880A>T (p.Thr294Ser)
c.181A>T (p.Thr61Ser)
 dbSNP
16g.3810644T>CCA7870562CREBBPc.934A>G (p.Thr312Ala)
c.880A>G (p.Thr294Ala)
c.181A>G (p.Thr61Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810644T>GCA394565917CREBBPc.934A>C (p.Thr312Pro)
c.880A>C (p.Thr294Pro)
c.181A>C (p.Thr61Pro)
16g.3810644T=CA2202971835CREBBPc.934A= (p.Thr312=)
c.880A= (p.Thr294=)
c.181A= (p.Thr61=)
16g.3810645A=CA2202971836CREBBPc.933T= (p.Pro311=)
c.879T= (p.Pro293=)
c.180T= (p.Pro60=)
16g.3810645A>CCA493277604CREBBPc.933T>G (p.Pro311=)
c.879T>G (p.Pro293=)
c.180T>G (p.Pro60=)
16g.3810645A>GCA277007815CREBBPc.933T>C (p.Pro311=)
c.879T>C (p.Pro293=)
c.180T>C (p.Pro60=)
 dbSNP
16g.3810645A>TCA493277605CREBBPc.933T>A (p.Pro311=)
c.879T>A (p.Pro293=)
c.180T>A (p.Pro60=)
16g.3810646G>ACA394565919CREBBPc.932C>T (p.Pro311Leu)
c.878C>T (p.Pro293Leu)
c.179C>T (p.Pro60Leu)
16g.3810646G>CCA394565920CREBBPc.932C>G (p.Pro311Arg)
c.878C>G (p.Pro293Arg)
c.179C>G (p.Pro60Arg)
16g.3810646G>TCA394565921CREBBPc.932C>A (p.Pro311His)
c.878C>A (p.Pro293His)
c.179C>A (p.Pro60His)
16g.3810647G>ACA394565922CREBBPc.931C>T (p.Pro311Ser)
c.877C>T (p.Pro293Ser)
c.178C>T (p.Pro60Ser)
 dbSNP COSMIC
16g.3810647G>CCA394565923CREBBPc.931C>G (p.Pro311Ala)
c.877C>G (p.Pro293Ala)
c.178C>G (p.Pro60Ala)
16g.3810647G>TCA394565924CREBBPc.931C>A (p.Pro311Thr)
c.877C>A (p.Pro293Thr)
c.178C>A (p.Pro60Thr)
16g.3810648G>ACA493277606CREBBPc.930C>T (p.Phe310=)
c.876C>T (p.Phe292=)
c.177C>T (p.Phe59=)
 gnomAD v4
16g.3810648G>CCA394565925CREBBPc.930C>G (p.Phe310Leu)
c.876C>G (p.Phe292Leu)
c.177C>G (p.Phe59Leu)
16g.3810648G>TCA394565926CREBBPc.930C>A (p.Phe310Leu)
c.876C>A (p.Phe292Leu)
c.177C>A (p.Phe59Leu)
16g.3810649A>CCA394565927CREBBPc.929T>G (p.Phe310Cys)
c.875T>G (p.Phe292Cys)
c.176T>G (p.Phe59Cys)
16g.3810649A>GCA394565928CREBBPc.929T>C (p.Phe310Ser)
c.875T>C (p.Phe292Ser)
c.176T>C (p.Phe59Ser)
16g.3810649A>TCA394565929CREBBPc.929T>A (p.Phe310Tyr)
c.875T>A (p.Phe292Tyr)
c.176T>A (p.Phe59Tyr)
16g.3810650A>CCA394565930CREBBPc.928T>G (p.Phe310Val)
c.874T>G (p.Phe292Val)
c.175T>G (p.Phe59Val)
16g.3810650A>GCA394565931CREBBPc.928T>C (p.Phe310Leu)
c.874T>C (p.Phe292Leu)
c.175T>C (p.Phe59Leu)
 gnomAD v4
16g.3810650A>TCA394565932CREBBPc.928T>A (p.Phe310Ile)
c.874T>A (p.Phe292Ile)
c.175T>A (p.Phe59Ile)
16g.3810651G>ACA7870564CREBBPc.927C>T (p.Thr309=)
c.873C>T (p.Thr291=)
c.174C>T (p.Thr58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810651G>CCA7870563CREBBPc.927C>G (p.Thr309=)
c.873C>G (p.Thr291=)
c.174C>G (p.Thr58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810651G=CA2202971837CREBBPc.927C= (p.Thr309=)
c.873C= (p.Thr291=)
c.174C= (p.Thr58=)
16g.3810651G>TCA493277607CREBBPc.927C>A (p.Thr309=)
c.873C>A (p.Thr291=)
c.174C>A (p.Thr58=)
16g.3810652G>ACA394565933CREBBPc.926C>T (p.Thr309Ile)
c.872C>T (p.Thr291Ile)
c.173C>T (p.Thr58Ile)
 ClinVar gnomAD v4
16g.3810652G>CCA394565935CREBBPc.926C>G (p.Thr309Ser)
c.872C>G (p.Thr291Ser)
c.173C>G (p.Thr58Ser)
 dbSNP
16g.3810652G>TCA394565934CREBBPc.926C>A (p.Thr309Asn)
c.872C>A (p.Thr291Asn)
c.173C>A (p.Thr58Asn)
16g.3810653T>ACA394565936CREBBPc.925A>T (p.Thr309Ser)
c.871A>T (p.Thr291Ser)
c.172A>T (p.Thr58Ser)
16g.3810653T>CCA394565938CREBBPc.925A>G (p.Thr309Ala)
c.871A>G (p.Thr291Ala)
c.172A>G (p.Thr58Ala)
16g.3810653T>GCA394565937CREBBPc.925A>C (p.Thr309Pro)
c.871A>C (p.Thr291Pro)
c.172A>C (p.Thr58Pro)
16g.3810654G>ACA493277610CREBBPc.924C>T (p.Pro308=)
c.870C>T (p.Pro290=)
c.171C>T (p.Pro57=)
16g.3810654G>CCA493277608CREBBPc.924C>G (p.Pro308=)
c.870C>G (p.Pro290=)
c.171C>G (p.Pro57=)
16g.3810654G>TCA493277609CREBBPc.924C>A (p.Pro308=)
c.870C>A (p.Pro290=)
c.171C>A (p.Pro57=)
16g.3810655G>ACA394565939CREBBPc.923C>T (p.Pro308Leu)
c.869C>T (p.Pro290Leu)
c.170C>T (p.Pro57Leu)
16g.3810655G>CCA394565941CREBBPc.923C>G (p.Pro308Arg)
c.869C>G (p.Pro290Arg)
c.170C>G (p.Pro57Arg)
16g.3810655G>TCA394565940CREBBPc.923C>A (p.Pro308His)
c.869C>A (p.Pro290His)
c.170C>A (p.Pro57His)
16g.3810656G>ACA394565942CREBBPc.922C>T (p.Pro308Ser)
c.868C>T (p.Pro290Ser)
c.169C>T (p.Pro57Ser)
 dbSNP
16g.3810656G>CCA277007830CREBBPc.922C>G (p.Pro308Ala)
c.868C>G (p.Pro290Ala)
c.169C>G (p.Pro57Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810656G=CA2202971838CREBBPc.922C= (p.Pro308=)
c.868C= (p.Pro290=)
c.169C= (p.Pro57=)
16g.3810656G>TCA394565943CREBBPc.922C>A (p.Pro308Thr)
c.868C>A (p.Pro290Thr)
c.169C>A (p.Pro57Thr)
16g.3810657C>ACA394565944CREBBPc.921G>T (p.Leu307Phe)
c.867G>T (p.Leu289Phe)
c.168G>T (p.Leu56Phe)
 dbSNP
16g.3810657C>GCA394565945CREBBPc.921G>C (p.Leu307Phe)
c.867G>C (p.Leu289Phe)
c.168G>C (p.Leu56Phe)
16g.3810657C>TCA493277611CREBBPc.921G>A (p.Leu307=)
c.867G>A (p.Leu289=)
c.168G>A (p.Leu56=)
 gnomAD v4
16g.3810658A>CCA394565946CREBBPc.920T>G (p.Leu307Trp)
c.866T>G (p.Leu289Trp)
c.167T>G (p.Leu56Trp)
16g.3810658A>GCA394565947CREBBPc.920T>C (p.Leu307Ser)
c.866T>C (p.Leu289Ser)
c.167T>C (p.Leu56Ser)
16g.3810658A>TCA394565948CREBBPc.920T>A (p.Leu307Ter)
c.866T>A (p.Leu289Ter)
c.167T>A (p.Leu56Ter)
16g.3810659A>CCA394565949CREBBPc.919T>G (p.Leu307Val)
c.865T>G (p.Leu289Val)
c.166T>G (p.Leu56Val)
16g.3810659A>GCA493277612CREBBPc.919T>C (p.Leu307=)
c.865T>C (p.Leu289=)
c.166T>C (p.Leu56=)
16g.3810659A>TCA394565950CREBBPc.919T>A (p.Leu307Met)
c.865T>A (p.Leu289Met)
c.166T>A (p.Leu56Met)
16g.3810660A>CCA394565951CREBBPc.918T>G (p.Ser306Arg)
c.864T>G (p.Ser288Arg)
c.165T>G (p.Ser55Arg)
16g.3810660A>GCA493277613CREBBPc.918T>C (p.Ser306=)
c.864T>C (p.Ser288=)
c.165T>C (p.Ser55=)
16g.3810660A>TCA394565952CREBBPc.918T>A (p.Ser306Arg)
c.864T>A (p.Ser288Arg)
c.165T>A (p.Ser55Arg)
16g.3810661C>ACA394565953CREBBPc.917G>T (p.Ser306Ile)
c.863G>T (p.Ser288Ile)
c.164G>T (p.Ser55Ile)
16g.3810661C>GCA394565954CREBBPc.917G>C (p.Ser306Thr)
c.863G>C (p.Ser288Thr)
c.164G>C (p.Ser55Thr)
16g.3810661C>TCA394565955CREBBPc.917G>A (p.Ser306Asn)
c.863G>A (p.Ser288Asn)
c.164G>A (p.Ser55Asn)
16g.3810662T>ACA394565958CREBBPc.916A>T (p.Ser306Cys)
c.862A>T (p.Ser288Cys)
c.163A>T (p.Ser55Cys)
16g.3810662T>CCA394565956CREBBPc.916A>G (p.Ser306Gly)
c.862A>G (p.Ser288Gly)
c.163A>G (p.Ser55Gly)
16g.3810662T>GCA394565957CREBBPc.916A>C (p.Ser306Arg)
c.862A>C (p.Ser288Arg)
c.163A>C (p.Ser55Arg)
16g.3810663G>ACA493277614CREBBPc.915C>T (p.Asn305=)
c.861C>T (p.Asn287=)
c.162C>T (p.Asn54=)
 dbSNP
16g.3810663G>CCA394565959CREBBPc.915C>G (p.Asn305Lys)
c.861C>G (p.Asn287Lys)
c.162C>G (p.Asn54Lys)
16g.3810663G>TCA394565960CREBBPc.915C>A (p.Asn305Lys)
c.861C>A (p.Asn287Lys)
c.162C>A (p.Asn54Lys)
16g.3810664T>ACA394565961CREBBPc.914A>T (p.Asn305Ile)
c.860A>T (p.Asn287Ile)
c.161A>T (p.Asn54Ile)
 gnomAD v4
16g.3810664T>CCA394565962CREBBPc.914A>G (p.Asn305Ser)
c.860A>G (p.Asn287Ser)
c.161A>G (p.Asn54Ser)
 gnomAD v4
16g.3810664T>GCA394565963CREBBPc.914A>C (p.Asn305Thr)
c.860A>C (p.Asn287Thr)
c.161A>C (p.Asn54Thr)
16g.3810665T>ACA394565964CREBBPc.913A>T (p.Asn305Tyr)
c.859A>T (p.Asn287Tyr)
c.160A>T (p.Asn54Tyr)
16g.3810665T>CCA394565965CREBBPc.913A>G (p.Asn305Asp)
c.859A>G (p.Asn287Asp)
c.160A>G (p.Asn54Asp)
 COSMIC
16g.3810665T>GCA394565966CREBBPc.913A>C (p.Asn305His)
c.859A>C (p.Asn287His)
c.160A>C (p.Asn54His)
 COSMIC
16g.3810666G>ACA493277615CREBBPc.912C>T (p.Val304=)
c.858C>T (p.Val286=)
c.159C>T (p.Val53=)
16g.3810666G>CCA493277616CREBBPc.912C>G (p.Val304=)
c.858C>G (p.Val286=)
c.159C>G (p.Val53=)
16g.3810666G>TCA493277617CREBBPc.912C>A (p.Val304=)
c.858C>A (p.Val286=)
c.159C>A (p.Val53=)
16g.3810667A=CA2202971840CREBBPc.911T= (p.Val304=)
c.857T= (p.Val286=)
c.158T= (p.Val53=)
16g.3810667A>CCA394565967CREBBPc.911T>G (p.Val304Gly)
c.857T>G (p.Val286Gly)
c.158T>G (p.Val53Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810667A>GCA394565968CREBBPc.911T>C (p.Val304Ala)
c.857T>C (p.Val286Ala)
c.158T>C (p.Val53Ala)
 gnomAD v4
16g.3810667A>TCA394565969CREBBPc.911T>A (p.Val304Asp)
c.857T>A (p.Val286Asp)
c.158T>A (p.Val53Asp)
 dbSNP
16g.3810667_3810668delinsACCA2202971839CREBBPc.910_911delinsGT (p.Val304=)
c.856_857delinsGT (p.Val286=)
c.157_158delinsGT (p.Val53=)
16g.3810668C>ACA394565970CREBBPc.910G>T (p.Val304Phe)
c.856G>T (p.Val286Phe)
c.157G>T (p.Val53Phe)
16g.3810668C=CA2202971841CREBBPc.910G= (p.Val304=)
c.856G= (p.Val286=)
c.157G= (p.Val53=)
16g.3810668C>GCA394565971CREBBPc.910G>C (p.Val304Leu)
c.856G>C (p.Val286Leu)
c.157G>C (p.Val53Leu)
16g.3810668C>TCA7870565CREBBPc.910G>A (p.Val304Ile)
c.856G>A (p.Val286Ile)
c.157G>A (p.Val53Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.3810669delCA222707CREBBPc.910del (p.Val304SerfsTer?)
c.856del (p.Val286SerfsTer?)
c.157del (p.Val53SerfsTer?)
 ClinVar dbSNP
16g.3810669C>ACA394565972CREBBPc.909G>T (p.Met303Ile)
c.855G>T (p.Met285Ile)
c.156G>T (p.Met52Ile)
16g.3810669C>GCA394565973CREBBPc.909G>C (p.Met303Ile)
c.855G>C (p.Met285Ile)
c.156G>C (p.Met52Ile)
16g.3810669C>TCA394565974CREBBPc.909G>A (p.Met303Ile)
c.855G>A (p.Met285Ile)
c.156G>A (p.Met52Ile)
16g.3810670A>CCA394565975CREBBPc.908T>G (p.Met303Arg)
c.854T>G (p.Met285Arg)
c.155T>G (p.Met52Arg)
16g.3810670A>GCA394565976CREBBPc.908T>C (p.Met303Thr)
c.854T>C (p.Met285Thr)
c.155T>C (p.Met52Thr)
16g.3810670A>TCA394565977CREBBPc.908T>A (p.Met303Lys)
c.854T>A (p.Met285Lys)
c.155T>A (p.Met52Lys)
16g.3810671T>ACA394565978CREBBPc.907A>T (p.Met303Leu)
c.853A>T (p.Met285Leu)
c.154A>T (p.Met52Leu)
16g.3810671T>CCA394565979CREBBPc.907A>G (p.Met303Val)
c.853A>G (p.Met285Val)
c.154A>G (p.Met52Val)
 ClinVar dbSNP gnomAD v4
16g.3810671T>GCA394565980CREBBPc.907A>C (p.Met303Leu)
c.853A>C (p.Met285Leu)
c.154A>C (p.Met52Leu)
16g.3810671T=CA2202971842CREBBPc.907A= (p.Met303=)
c.853A= (p.Met285=)
c.154A= (p.Met52=)
16g.3810672G>ACA493277618CREBBPc.906C>T (p.Ser302=)
c.852C>T (p.Ser284=)
c.153C>T (p.Ser51=)
 dbSNP gnomAD v4
16g.3810672G>CCA394565981CREBBPc.906C>G (p.Ser302Arg)
c.852C>G (p.Ser284Arg)
c.153C>G (p.Ser51Arg)
16g.3810672G=CA2202971843CREBBPc.906C= (p.Ser302=)
c.852C= (p.Ser284=)
c.153C= (p.Ser51=)
16g.3810672G>TCA394565982CREBBPc.906C>A (p.Ser302Arg)
c.852C>A (p.Ser284Arg)
c.153C>A (p.Ser51Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.3810673C>ACA394565983CREBBPc.905G>T (p.Ser302Ile)
c.851G>T (p.Ser284Ile)
c.152G>T (p.Ser51Ile)
16g.3810673C=CA2202971844CREBBPc.905G= (p.Ser302=)
c.851G= (p.Ser284=)
c.152G= (p.Ser51=)
16g.3810673C>GCA394565984CREBBPc.905G>C (p.Ser302Thr)
c.851G>C (p.Ser284Thr)
c.152G>C (p.Ser51Thr)
16g.3810673C>TCA7870566CREBBPc.905G>A (p.Ser302Asn)
c.851G>A (p.Ser284Asn)
c.152G>A (p.Ser51Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810675_3810676delCA2695222699CREBBPc.904_905del (p.Ser302HisfsTer?)
c.850_851del (p.Ser284HisfsTer?)
c.151_152del (p.Ser51HisfsTer?)
16g.3810674T>ACA394565985CREBBPc.904A>T (p.Ser302Cys)
c.850A>T (p.Ser284Cys)
c.151A>T (p.Ser51Cys)
16g.3810674T>CCA394565986CREBBPc.904A>G (p.Ser302Gly)
c.850A>G (p.Ser284Gly)
c.151A>G (p.Ser51Gly)
16g.3810674T>GCA394565987CREBBPc.904A>C (p.Ser302Arg)
c.850A>C (p.Ser284Arg)
c.151A>C (p.Ser51Arg)
 gnomAD v4
16g.3810675C>ACA394565988CREBBPc.903G>T (p.Gln301His)
c.849G>T (p.Gln283His)
c.150G>T (p.Gln50His)
 COSMIC
16g.3810675C>GCA394565989CREBBPc.903G>C (p.Gln301His)
c.849G>C (p.Gln283His)
c.150G>C (p.Gln50His)
 dbSNP
16g.3810675C>TCA493277619CREBBPc.903G>A (p.Gln301=)
c.849G>A (p.Gln283=)
c.150G>A (p.Gln50=)
16g.3810676T>ACA394565992CREBBPc.902A>T (p.Gln301Leu)
c.848A>T (p.Gln283Leu)
c.149A>T (p.Gln50Leu)
16g.3810676T>CCA394565990CREBBPc.902A>G (p.Gln301Arg)
c.848A>G (p.Gln283Arg)
c.149A>G (p.Gln50Arg)
16g.3810676T>GCA394565991CREBBPc.902A>C (p.Gln301Pro)
c.848A>C (p.Gln283Pro)
c.149A>C (p.Gln50Pro)
16g.3810677G>ACA394565993CREBBPc.901C>T (p.Gln301Ter)
c.847C>T (p.Gln283Ter)
c.148C>T (p.Gln50Ter)
16g.3810677G>CCA394565994CREBBPc.901C>G (p.Gln301Glu)
c.847C>G (p.Gln283Glu)
c.148C>G (p.Gln50Glu)
16g.3810677G>TCA394565995CREBBPc.901C>A (p.Gln301Lys)
c.847C>A (p.Gln283Lys)
c.148C>A (p.Gln50Lys)
16g.3810678T>ACA394565996CREBBPc.900A>T (p.Lys300Asn)
c.846A>T (p.Lys282Asn)
c.147A>T (p.Lys49Asn)
16g.3810678T>CCA493277620CREBBPc.900A>G (p.Lys300=)
c.846A>G (p.Lys282=)
c.147A>G (p.Lys49=)
 gnomAD v4
16g.3810678T>GCA394565997CREBBPc.900A>C (p.Lys300Asn)
c.846A>C (p.Lys282Asn)
c.147A>C (p.Lys49Asn)
16g.3810679T>ACA394566000CREBBPc.899A>T (p.Lys300Ile)
c.845A>T (p.Lys282Ile)
c.146A>T (p.Lys49Ile)
16g.3810679T>CCA394565999CREBBPc.899A>G (p.Lys300Arg)
c.845A>G (p.Lys282Arg)
c.146A>G (p.Lys49Arg)
16g.3810679T>GCA394565998CREBBPc.899A>C (p.Lys300Thr)
c.845A>C (p.Lys282Thr)
c.146A>C (p.Lys49Thr)
16g.3810680T>ACA394566001CREBBPc.898A>T (p.Lys300Ter)
c.844A>T (p.Lys282Ter)
c.145A>T (p.Lys49Ter)
16g.3810680T>CCA394566002CREBBPc.898A>G (p.Lys300Glu)
c.844A>G (p.Lys282Glu)
c.145A>G (p.Lys49Glu)
16g.3810680T>GCA394566003CREBBPc.898A>C (p.Lys300Gln)
c.844A>C (p.Lys282Gln)
c.145A>C (p.Lys49Gln)
16g.3810681G>ACA493277621CREBBPc.897C>T (p.Ser299=)
c.843C>T (p.Ser281=)
c.144C>T (p.Ser48=)
 dbSNP
16g.3810681G>CCA394566004CREBBPc.897C>G (p.Ser299Arg)
c.843C>G (p.Ser281Arg)
c.144C>G (p.Ser48Arg)
 gnomAD v4
16g.3810681G>TCA394566005CREBBPc.897C>A (p.Ser299Arg)
c.843C>A (p.Ser281Arg)
c.144C>A (p.Ser48Arg)
16g.3810682C>ACA394566008CREBBPc.896G>T (p.Ser299Ile)
c.842G>T (p.Ser281Ile)
c.143G>T (p.Ser48Ile)
16g.3810682C>GCA394566007CREBBPc.896G>C (p.Ser299Thr)
c.842G>C (p.Ser281Thr)
c.143G>C (p.Ser48Thr)
16g.3810682C>TCA394566006CREBBPc.896G>A (p.Ser299Asn)
c.842G>A (p.Ser281Asn)
c.143G>A (p.Ser48Asn)
 dbSNP
16g.3810683T>ACA394566009CREBBPc.895A>T (p.Ser299Cys)
c.841A>T (p.Ser281Cys)
c.142A>T (p.Ser48Cys)
16g.3810683T>CCA158188CREBBPc.895A>G (p.Ser299Gly)
c.841A>G (p.Ser281Gly)
c.142A>G (p.Ser48Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810683T>GCA394566010CREBBPc.895A>C (p.Ser299Arg)
c.841A>C (p.Ser281Arg)
c.142A>C (p.Ser48Arg)
16g.3810683T=CA2202971845CREBBPc.895A= (p.Ser299=)
c.841A= (p.Ser281=)
c.142A= (p.Ser48=)
16g.3810683_3810684insCCA2536587226CREBBPc.894_895insG (p.Ser299GlufsTer?)
c.840_841insG (p.Ser281GlufsTer?)
c.141_142insG (p.Ser48GlufsTer?)
16g.3810684G>ACA493277622CREBBPc.894C>T (p.Ala298=)
c.840C>T (p.Ala280=)
c.141C>T (p.Ala47=)
16g.3810684G>CCA493277623CREBBPc.894C>G (p.Ala298=)
c.840C>G (p.Ala280=)
c.141C>G (p.Ala47=)
16g.3810684G>TCA493277624CREBBPc.894C>A (p.Ala298=)
c.840C>A (p.Ala280=)
c.141C>A (p.Ala47=)
16g.3810685G>ACA394566011CREBBPc.893C>T (p.Ala298Val)
c.839C>T (p.Ala280Val)
c.140C>T (p.Ala47Val)
 dbSNP
16g.3810685G>CCA394566012CREBBPc.893C>G (p.Ala298Gly)
c.839C>G (p.Ala280Gly)
c.140C>G (p.Ala47Gly)
16g.3810685G>TCA394566013CREBBPc.893C>A (p.Ala298Asp)
c.839C>A (p.Ala280Asp)
c.140C>A (p.Ala47Asp)
16g.3810686C>ACA394566016CREBBPc.892G>T (p.Ala298Ser)
c.838G>T (p.Ala280Ser)
c.139G>T (p.Ala47Ser)
16g.3810686C>GCA394566014CREBBPc.892G>C (p.Ala298Pro)
c.838G>C (p.Ala280Pro)
c.139G>C (p.Ala47Pro)
16g.3810686C>TCA394566015CREBBPc.892G>A (p.Ala298Thr)
c.838G>A (p.Ala280Thr)
c.139G>A (p.Ala47Thr)
16g.3810687delCA2537323876CREBBPc.891del (p.Ala298ProfsTer?)
c.837del (p.Ala280ProfsTer?)
c.138del (p.Ala47ProfsTer?)
16g.3810687T>ACA394566017CREBBPc.891A>T (p.Leu297Phe)
c.837A>T (p.Leu279Phe)
c.138A>T (p.Leu46Phe)
16g.3810687T>CCA493277625CREBBPc.891A>G (p.Leu297=)
c.837A>G (p.Leu279=)
c.138A>G (p.Leu46=)
 gnomAD v3 gnomAD v4
16g.3810687T>GCA394566018CREBBPc.891A>C (p.Leu297Phe)
c.837A>C (p.Leu279Phe)
c.138A>C (p.Leu46Phe)
16g.3810688A>CCA394566019CREBBPc.890T>G (p.Leu297Ter)
c.836T>G (p.Leu279Ter)
c.137T>G (p.Leu46Ter)
16g.3810688A>GCA394566020CREBBPc.890T>C (p.Leu297Ser)
c.836T>C (p.Leu279Ser)
c.137T>C (p.Leu46Ser)
16g.3810688A>TCA394566021CREBBPc.890T>A (p.Leu297Ter)
c.836T>A (p.Leu279Ter)
c.137T>A (p.Leu46Ter)
16g.3810689A>CCA394566022CREBBPc.889T>G (p.Leu297Val)
c.835T>G (p.Leu279Val)
c.136T>G (p.Leu46Val)
16g.3810689A>GCA493277626CREBBPc.889T>C (p.Leu297=)
c.835T>C (p.Leu279=)
c.136T>C (p.Leu46=)
16g.3810689A>TCA394566023CREBBPc.889T>A (p.Leu297Ile)
c.835T>A (p.Leu279Ile)
c.136T>A (p.Leu46Ile)
16g.3810690C>ACA394566024CREBBPc.888G>T (p.Gln296His)
c.834G>T (p.Gln278His)
c.135G>T (p.Gln45His)
16g.3810690C>GCA394566025CREBBPc.888G>C (p.Gln296His)
c.834G>C (p.Gln278His)
c.135G>C (p.Gln45His)
16g.3810690C>TCA493277627CREBBPc.888G>A (p.Gln296=)
c.834G>A (p.Gln278=)
c.135G>A (p.Gln45=)
 gnomAD v4
16g.3810691T>ACA394566026CREBBPc.887A>T (p.Gln296Leu)
c.833A>T (p.Gln278Leu)
c.134A>T (p.Gln45Leu)
16g.3810691T>CCA394566027CREBBPc.887A>G (p.Gln296Arg)
c.833A>G (p.Gln278Arg)
c.134A>G (p.Gln45Arg)
 gnomAD v4
16g.3810691T>GCA394566028CREBBPc.887A>C (p.Gln296Pro)
c.833A>C (p.Gln278Pro)
c.134A>C (p.Gln45Pro)
 dbSNP
16g.3810691T=CA2202971846CREBBPc.887A= (p.Gln296=)
c.833A= (p.Gln278=)
c.134A= (p.Gln45=)
16g.3810692G>ACA394566029CREBBPc.886C>T (p.Gln296Ter)
c.832C>T (p.Gln278Ter)
c.133C>T (p.Gln45Ter)
16g.3810692G>CCA394566031CREBBPc.886C>G (p.Gln296Glu)
c.832C>G (p.Gln278Glu)
c.133C>G (p.Gln45Glu)
16g.3810692G>TCA394566030CREBBPc.886C>A (p.Gln296Lys)
c.832C>A (p.Gln278Lys)
c.133C>A (p.Gln45Lys)
 dbSNP gnomAD v4
16g.3810696dupCA913190688CREBBPc.886dup (p.Gln296ProfsTer?)
c.832dup (p.Gln278ProfsTer?)
c.133dup (p.Gln45ProfsTer?)
 ClinVar dbSNP
16g.3810696delCA2731627059CREBBPc.886del (p.Gln296SerfsTer2)
c.832del (p.Gln278SerfsTer2)
c.133del (p.Gln45SerfsTer2)
 dbSNP
16g.3810695_3810696delCA2695222700CREBBPc.885_886del (p.Gln296ValfsTer?)
c.831_832del (p.Gln278ValfsTer?)
c.132_133del (p.Gln45ValfsTer?)
16g.3810693G>ACA493277630CREBBPc.885C>T (p.Pro295=)
c.831C>T (p.Pro277=)
c.132C>T (p.Pro44=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810693G>CCA493277629CREBBPc.885C>G (p.Pro295=)
c.831C>G (p.Pro277=)
c.132C>G (p.Pro44=)
16g.3810693G=CA2202971847CREBBPc.885C= (p.Pro295=)
c.831C= (p.Pro277=)
c.132C= (p.Pro44=)
16g.3810693G>TCA493277628CREBBPc.885C>A (p.Pro295=)
c.831C>A (p.Pro277=)
c.132C>A (p.Pro44=)
16g.3810694G>ACA394566032CREBBPc.884C>T (p.Pro295Leu)
c.830C>T (p.Pro277Leu)
c.131C>T (p.Pro44Leu)
 ClinVar
16g.3810694G>CCA394566033CREBBPc.884C>G (p.Pro295Arg)
c.830C>G (p.Pro277Arg)
c.131C>G (p.Pro44Arg)
 gnomAD v4
16g.3810694G>TCA394566034CREBBPc.884C>A (p.Pro295His)
c.830C>A (p.Pro277His)
c.131C>A (p.Pro44His)
16g.3810695G>ACA394566035CREBBPc.883C>T (p.Pro295Ser)
c.829C>T (p.Pro277Ser)
c.130C>T (p.Pro44Ser)
16g.3810695G>CCA394566036CREBBPc.883C>G (p.Pro295Ala)
c.829C>G (p.Pro277Ala)
c.130C>G (p.Pro44Ala)
16g.3810695G=CA2202971848CREBBPc.883C= (p.Pro295=)
c.829C= (p.Pro277=)
c.130C= (p.Pro44=)
16g.3810695G>TCA394566037CREBBPc.883C>A (p.Pro295Thr)
c.829C>A (p.Pro277Thr)
c.130C>A (p.Pro44Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3810696G>ACA493277631CREBBPc.882C>T (p.Asn294=)
c.828C>T (p.Asn276=)
c.129C>T (p.Asn43=)
 dbSNP gnomAD v4
16g.3810696G>CCA394566038CREBBPc.882C>G (p.Asn294Lys)
c.828C>G (p.Asn276Lys)
c.129C>G (p.Asn43Lys)
16g.3810696G>TCA394566039CREBBPc.882C>A (p.Asn294Lys)
c.828C>A (p.Asn276Lys)
c.129C>A (p.Asn43Lys)
 ClinVar gnomAD v4
16g.3810697T>ACA394566040CREBBPc.881A>T (p.Asn294Ile)
c.827A>T (p.Asn276Ile)
c.128A>T (p.Asn43Ile)
16g.3810697T>CCA394566041CREBBPc.881A>G (p.Asn294Ser)
c.827A>G (p.Asn276Ser)
c.128A>G (p.Asn43Ser)
16g.3810697T>GCA394566042CREBBPc.881A>C (p.Asn294Thr)
c.827A>C (p.Asn276Thr)
c.128A>C (p.Asn43Thr)
16g.3810698dupCA2695222701CREBBPc.881dup (p.Asn294LysfsTer?)
c.827dup (p.Asn276LysfsTer?)
c.128dup (p.Asn43LysfsTer?)
16g.3810698T>ACA394566045CREBBPc.880A>T (p.Asn294Tyr)
c.826A>T (p.Asn276Tyr)
c.127A>T (p.Asn43Tyr)
16g.3810698T>CCA394566044CREBBPc.880A>G (p.Asn294Asp)
c.826A>G (p.Asn276Asp)
c.127A>G (p.Asn43Asp)
16g.3810698T>GCA394566043CREBBPc.880A>C (p.Asn294His)
c.826A>C (p.Asn276His)
c.127A>C (p.Asn43His)
16g.3810699C>ACA493277632CREBBPc.879G>T (p.Val293=)
c.825G>T (p.Val275=)
c.126G>T (p.Val42=)
16g.3810699C=CA2202971849CREBBPc.879G= (p.Val293=)
c.825G= (p.Val275=)
c.126G= (p.Val42=)
16g.3810699C>GCA493277633CREBBPc.879G>C (p.Val293=)
c.825G>C (p.Val275=)
c.126G>C (p.Val42=)
16g.3810699C>TCA7870567CREBBPc.879G>A (p.Val293=)
c.825G>A (p.Val275=)
c.126G>A (p.Val42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810700A=CA2202971850CREBBPc.878T= (p.Val293=)
c.824T= (p.Val275=)
c.125T= (p.Val42=)
16g.3810700A>CCA394566046CREBBPc.878T>G (p.Val293Gly)
c.824T>G (p.Val275Gly)
c.125T>G (p.Val42Gly)
16g.3810700A>GCA394566047CREBBPc.878T>C (p.Val293Ala)
c.824T>C (p.Val275Ala)
c.125T>C (p.Val42Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3810700A>TCA394566048CREBBPc.878T>A (p.Val293Glu)
c.824T>A (p.Val275Glu)
c.125T>A (p.Val42Glu)
 ClinVar dbSNP
16g.3810701C>ACA394566049CREBBPc.877G>T (p.Val293Leu)
c.823G>T (p.Val275Leu)
c.124G>T (p.Val42Leu)
16g.3810701C=CA2202971851CREBBPc.877G= (p.Val293=)
c.823G= (p.Val275=)
c.124G= (p.Val42=)
16g.3810701C>GCA394566050CREBBPc.877G>C (p.Val293Leu)
c.823G>C (p.Val275Leu)
c.124G>C (p.Val42Leu)
16g.3810701C>TCA394566051CREBBPc.877G>A (p.Val293Met)
c.823G>A (p.Val275Met)
c.124G>A (p.Val42Met)
 dbSNP gnomAD v2 gnomAD v4
16g.3810702T>ACA493277634CREBBPc.876A>T (p.Gly292=)
c.822A>T (p.Gly274=)
c.123A>T (p.Gly41=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810702T>CCA493277635CREBBPc.876A>G (p.Gly292=)
c.822A>G (p.Gly274=)
c.123A>G (p.Gly41=)
16g.3810702T>GCA493277636CREBBPc.876A>C (p.Gly292=)
c.822A>C (p.Gly274=)
c.123A>C (p.Gly41=)
16g.3810702T=CA2202971852CREBBPc.876A= (p.Gly292=)
c.822A= (p.Gly274=)
c.123A= (p.Gly41=)
16g.3810703C>ACA7870568CREBBPc.875G>T (p.Gly292Val)
c.821G>T (p.Gly274Val)
c.122G>T (p.Gly41Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810703C=CA2202971853CREBBPc.875G= (p.Gly292=)
c.821G= (p.Gly274=)
c.122G= (p.Gly41=)
16g.3810703C>GCA394566052CREBBPc.875G>C (p.Gly292Ala)
c.821G>C (p.Gly274Ala)
c.122G>C (p.Gly41Ala)
16g.3810703C>TCA394566053CREBBPc.875G>A (p.Gly292Glu)
c.821G>A (p.Gly274Glu)
c.122G>A (p.Gly41Glu)
 ClinVar gnomAD v4
16g.3810704C>ACA394566054CREBBPc.874G>T (p.Gly292Ter)
c.820G>T (p.Gly274Ter)
c.121G>T (p.Gly41Ter)
16g.3810704C>GCA394566055CREBBPc.874G>C (p.Gly292Arg)
c.820G>C (p.Gly274Arg)
c.121G>C (p.Gly41Arg)
16g.3810704C>TCA394566056CREBBPc.874G>A (p.Gly292Arg)
c.820G>A (p.Gly274Arg)
c.121G>A (p.Gly41Arg)
 ClinVar dbSNP gnomAD v4
16g.3810705A>CCA493277637CREBBPc.873T>G (p.Thr291=)
c.819T>G (p.Thr273=)
c.120T>G (p.Thr40=)
16g.3810705A>GCA493277638CREBBPc.873T>C (p.Thr291=)
c.819T>C (p.Thr273=)
c.120T>C (p.Thr40=)
16g.3810705A>TCA493277639CREBBPc.873T>A (p.Thr291=)
c.819T>A (p.Thr273=)
c.120T>A (p.Thr40=)
16g.3810706G>ACA394566059CREBBPc.872C>T (p.Thr291Ile)
c.818C>T (p.Thr273Ile)
c.119C>T (p.Thr40Ile)
16g.3810706G>CCA394566058CREBBPc.872C>G (p.Thr291Ser)
c.818C>G (p.Thr273Ser)
c.119C>G (p.Thr40Ser)
 dbSNP gnomAD v2
16g.3810706G=CA2202971854CREBBPc.872C= (p.Thr291=)
c.818C= (p.Thr273=)
c.119C= (p.Thr40=)
16g.3810706G>TCA394566057CREBBPc.872C>A (p.Thr291Asn)
c.818C>A (p.Thr273Asn)
c.119C>A (p.Thr40Asn)
16g.3810707T>ACA394566061CREBBPc.871A>T (p.Thr291Ser)
c.817A>T (p.Thr273Ser)
c.118A>T (p.Thr40Ser)
16g.3810707T>CCA394566060CREBBPc.871A>G (p.Thr291Ala)
c.817A>G (p.Thr273Ala)
c.118A>G (p.Thr40Ala)
 gnomAD v4 COSMIC
16g.3810707T>GCA394566062CREBBPc.871A>C (p.Thr291Pro)
c.817A>C (p.Thr273Pro)
c.118A>C (p.Thr40Pro)
 dbSNP
16g.3810708G>ACA493277640CREBBPc.870C>T (p.Ala290=)
c.816C>T (p.Ala272=)
c.117C>T (p.Ala39=)
 gnomAD v4
16g.3810708G>CCA493277641CREBBPc.870C>G (p.Ala290=)
c.816C>G (p.Ala272=)
c.117C>G (p.Ala39=)
16g.3810708G>TCA493277642CREBBPc.870C>A (p.Ala290=)
c.816C>A (p.Ala272=)
c.117C>A (p.Ala39=)
16g.3810709G>ACA394566063CREBBPc.869C>T (p.Ala290Val)
c.815C>T (p.Ala272Val)
c.116C>T (p.Ala39Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810709G>CCA394566064CREBBPc.869C>G (p.Ala290Gly)
c.815C>G (p.Ala272Gly)
c.116C>G (p.Ala39Gly)
16g.3810709G=CA2202971855CREBBPc.869C= (p.Ala290=)
c.815C= (p.Ala272=)
c.116C= (p.Ala39=)
16g.3810709G>TCA394566065CREBBPc.869C>A (p.Ala290Asp)
c.815C>A (p.Ala272Asp)
c.116C>A (p.Ala39Asp)

Number of alleles fetched