Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
16g.3810710C>ACA394566066CREBBPc.868G>T (p.Ala290Ser)
c.814G>T (p.Ala272Ser)
c.115G>T (p.Ala39Ser)
16g.3810710C=CA2202971856CREBBPc.868G= (p.Ala290=)
c.814G= (p.Ala272=)
c.115G= (p.Ala39=)
16g.3810710C>GCA394566067CREBBPc.868G>C (p.Ala290Pro)
c.814G>C (p.Ala272Pro)
c.115G>C (p.Ala39Pro)
16g.3810710C>TCA7870569CREBBPc.868G>A (p.Ala290Thr)
c.814G>A (p.Ala272Thr)
c.115G>A (p.Ala39Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3810711T>ACA493277643CREBBPc.867A>T (p.Gly289=)
c.813A>T (p.Gly271=)
c.114A>T (p.Gly38=)
16g.3810711T>CCA493277644CREBBPc.867A>G (p.Gly289=)
c.813A>G (p.Gly271=)
c.114A>G (p.Gly38=)
16g.3810711T>GCA493277645CREBBPc.867A>C (p.Gly289=)
c.813A>C (p.Gly271=)
c.114A>C (p.Gly38=)
16g.3810712C>ACA394566070CREBBPc.866G>T (p.Gly289Val)
c.812G>T (p.Gly271Val)
c.113G>T (p.Gly38Val)
16g.3810712C>GCA394566069CREBBPc.866G>C (p.Gly289Ala)
c.812G>C (p.Gly271Ala)
c.113G>C (p.Gly38Ala)
16g.3810712C>TCA394566068CREBBPc.866G>A (p.Gly289Glu)
c.812G>A (p.Gly271Glu)
c.113G>A (p.Gly38Glu)
 dbSNP
16g.3810713C>ACA394566071CREBBPc.865G>T (p.Gly289Ter)
c.811G>T (p.Gly271Ter)
c.112G>T (p.Gly38Ter)
16g.3810713C=CA2202971857CREBBPc.865G= (p.Gly289=)
c.811G= (p.Gly271=)
c.112G= (p.Gly38=)
16g.3810713C>GCA394566072CREBBPc.865G>C (p.Gly289Arg)
c.811G>C (p.Gly271Arg)
c.112G>C (p.Gly38Arg)
16g.3810713C>TCA7870570CREBBPc.865G>A (p.Gly289Arg)
c.811G>A (p.Gly271Arg)
c.112G>A (p.Gly38Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810714C>ACA394566073CREBBPc.864G>T (p.Met288Ile)
c.810G>T (p.Met270Ile)
c.111G>T (p.Met37Ile)
16g.3810714C>GCA394566074CREBBPc.864G>C (p.Met288Ile)
c.810G>C (p.Met270Ile)
c.111G>C (p.Met37Ile)
16g.3810714C>TCA394566075CREBBPc.864G>A (p.Met288Ile)
c.810G>A (p.Met270Ile)
c.111G>A (p.Met37Ile)
16g.3810715A>CCA394566076CREBBPc.863T>G (p.Met288Arg)
c.809T>G (p.Met270Arg)
c.110T>G (p.Met37Arg)
16g.3810715A>GCA394566078CREBBPc.863T>C (p.Met288Thr)
c.809T>C (p.Met270Thr)
c.110T>C (p.Met37Thr)
 gnomAD v4
16g.3810715A>TCA394566077CREBBPc.863T>A (p.Met288Lys)
c.809T>A (p.Met270Lys)
c.110T>A (p.Met37Lys)
16g.3810716T>ACA7870572CREBBPc.862A>T (p.Met288Leu)
c.808A>T (p.Met270Leu)
c.109A>T (p.Met37Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810716T>CCA7870571CREBBPc.862A>G (p.Met288Val)
c.808A>G (p.Met270Val)
c.109A>G (p.Met37Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810716T>GCA394566079CREBBPc.862A>C (p.Met288Leu)
c.808A>C (p.Met270Leu)
c.109A>C (p.Met37Leu)
16g.3810716T=CA2202971858CREBBPc.862A= (p.Met288=)
c.808A= (p.Met270=)
c.109A= (p.Met37=)
16g.3810717T>ACA493277648CREBBPc.861A>T (p.Pro287=)
c.807A>T (p.Pro269=)
c.108A>T (p.Pro36=)
16g.3810717T>CCA493277646CREBBPc.861A>G (p.Pro287=)
c.807A>G (p.Pro269=)
c.108A>G (p.Pro36=)
 gnomAD v4
16g.3810717T>GCA493277647CREBBPc.861A>C (p.Pro287=)
c.807A>C (p.Pro269=)
c.108A>C (p.Pro36=)
16g.3810718G>ACA394566080CREBBPc.860C>T (p.Pro287Leu)
c.806C>T (p.Pro269Leu)
c.107C>T (p.Pro36Leu)
 ClinVar
16g.3810718G>CCA394566081CREBBPc.860C>G (p.Pro287Arg)
c.806C>G (p.Pro269Arg)
c.107C>G (p.Pro36Arg)
16g.3810718G>TCA394566082CREBBPc.860C>A (p.Pro287Gln)
c.806C>A (p.Pro269Gln)
c.107C>A (p.Pro36Gln)
16g.3810718_3810719delinsCCCA1139664456CREBBPc.859_860delinsGG (p.Pro287Gly)
c.805_806delinsGG (p.Pro269Gly)
c.106_107delinsGG (p.Pro36Gly)
 ClinVar
16g.3810719G>ACA394566083CREBBPc.859C>T (p.Pro287Ser)
c.805C>T (p.Pro269Ser)
c.106C>T (p.Pro36Ser)
 dbSNP
16g.3810719G>CCA394566084CREBBPc.859C>G (p.Pro287Ala)
c.805C>G (p.Pro269Ala)
c.106C>G (p.Pro36Ala)
16g.3810719G>TCA394566085CREBBPc.859C>A (p.Pro287Thr)
c.805C>A (p.Pro269Thr)
c.106C>A (p.Pro36Thr)
16g.3810720C>ACA394566086CREBBPc.858G>T (p.Gln286His)
n.100G>T
c.804G>T (p.Gln268His)
c.105G>T (p.Gln35His)
 COSMIC
16g.3810720C=CA2202971859CREBBPc.858G= (p.Gln286=)
n.100G=
c.804G= (p.Gln268=)
c.105G= (p.Gln35=)
16g.3810720C>GCA394566087CREBBPc.858G>C (p.Gln286His)
n.100G>C
c.804G>C (p.Gln268His)
c.105G>C (p.Gln35His)
16g.3810720C>TCA493277649CREBBPc.858G>A (p.Gln286=)
n.100G>A
c.804G>A (p.Gln268=)
c.105G>A (p.Gln35=)
 ClinVar dbSNP gnomAD v4
16g.3810721T>ACA394566088CREBBPc.857A>T (p.Gln286Leu)
n.99A>T
c.803A>T (p.Gln268Leu)
c.104A>T (p.Gln35Leu)
16g.3810721T>CCA394566090CREBBPc.857A>G (p.Gln286Arg)
n.99A>G
c.803A>G (p.Gln268Arg)
c.104A>G (p.Gln35Arg)
16g.3810721T>GCA394566089CREBBPc.857A>C (p.Gln286Pro)
n.99A>C
c.803A>C (p.Gln268Pro)
c.104A>C (p.Gln35Pro)
16g.3810721T=CA2202971860CREBBPc.857A= (p.Gln286=)
n.99A=
c.803A= (p.Gln268=)
c.104A= (p.Gln35=)
16g.3810722G>ACA394566091CREBBPc.856C>T (p.Gln286Ter)
n.98C>T
c.802C>T (p.Gln268Ter)
c.103C>T (p.Gln35Ter)
 dbSNP
16g.3810722G>CCA394566092CREBBPc.856C>G (p.Gln286Glu)
n.98C>G
c.802C>G (p.Gln268Glu)
c.103C>G (p.Gln35Glu)
16g.3810722G>TCA394566093CREBBPc.856C>A (p.Gln286Lys)
n.98C>A
c.802C>A (p.Gln268Lys)
c.103C>A (p.Gln35Lys)
16g.3810722dupCA919643374CREBBPc.856dup (p.Gln286ProfsTer?)
n.98dup
c.802dup (p.Gln268ProfsTer?)
c.103dup (p.Gln35ProfsTer?)
 dbSNP
16g.3810723C>ACA493277650CREBBPc.855G>T (p.Gly285=)
n.97G>T
c.801G>T (p.Gly267=)
c.102G>T (p.Gly34=)
 dbSNP
16g.3810723C=CA2202971861CREBBPc.855G= (p.Gly285=)
n.97G=
c.801G= (p.Gly267=)
c.102G= (p.Gly34=)
16g.3810723C>GCA493277652CREBBPc.855G>C (p.Gly285=)
n.97G>C
c.801G>C (p.Gly267=)
c.102G>C (p.Gly34=)
 dbSNP
16g.3810723C>TCA493277651CREBBPc.855G>A (p.Gly285=)
n.97G>A
c.801G>A (p.Gly267=)
c.102G>A (p.Gly34=)
 dbSNP gnomAD v3 gnomAD v4
16g.3810724C>ACA394566094CREBBPc.854G>T (p.Gly285Val)
n.96G>T
c.800G>T (p.Gly267Val)
c.101G>T (p.Gly34Val)
 dbSNP
16g.3810724C>GCA394566095CREBBPc.854G>C (p.Gly285Ala)
n.96G>C
c.800G>C (p.Gly267Ala)
c.101G>C (p.Gly34Ala)
16g.3810724C>TCA394566096CREBBPc.854G>A (p.Gly285Glu)
n.96G>A
c.800G>A (p.Gly267Glu)
c.101G>A (p.Gly34Glu)
16g.3810725C>ACA394566097CREBBPc.853G>T (p.Gly285Trp)
n.95G>T
c.799G>T (p.Gly267Trp)
c.100G>T (p.Gly34Trp)
 dbSNP
16g.3810725C>GCA394566098CREBBPc.853G>C (p.Gly285Arg)
n.95G>C
c.799G>C (p.Gly267Arg)
c.100G>C (p.Gly34Arg)
16g.3810725C>TCA394566099CREBBPc.853G>A (p.Gly285Arg)
n.95G>A
c.799G>A (p.Gly267Arg)
c.100G>A (p.Gly34Arg)
16g.3810726T>ACA493277653CREBBPc.852A>T (p.Gly284=)
n.94A>T
c.798A>T (p.Gly266=)
c.99A>T (p.Gly33=)
 COSMIC
16g.3810726T>CCA493277654CREBBPc.852A>G (p.Gly284=)
n.94A>G
c.798A>G (p.Gly266=)
c.99A>G (p.Gly33=)
 dbSNP gnomAD v4
16g.3810726T>GCA493277655CREBBPc.852A>C (p.Gly284=)
n.94A>C
c.798A>C (p.Gly266=)
c.99A>C (p.Gly33=)
16g.3810726T=CA2202971862CREBBPc.852A= (p.Gly284=)
n.94A=
c.798A= (p.Gly266=)
c.99A= (p.Gly33=)
16g.3810727C>ACA394566100CREBBPc.851G>T (p.Gly284Val)
n.93G>T
c.797G>T (p.Gly266Val)
c.98G>T (p.Gly33Val)
 dbSNP
16g.3810727C=CA2202971863CREBBPc.851G= (p.Gly284=)
n.93G=
c.797G= (p.Gly266=)
c.98G= (p.Gly33=)
16g.3810727C>GCA7870573CREBBPc.851G>C (p.Gly284Ala)
n.93G>C
c.797G>C (p.Gly266Ala)
c.98G>C (p.Gly33Ala)
 dbSNP ExAC gnomAD v2
16g.3810727C>TCA394566101CREBBPc.851G>A (p.Gly284Glu)
n.93G>A
c.797G>A (p.Gly266Glu)
c.98G>A (p.Gly33Glu)
16g.3810728delCA2580091132CREBBPc.851del (p.Gly284GlufsTer10)
n.93del
c.797del (p.Gly266GlufsTer10)
c.98del (p.Gly33GlufsTer10)
 ClinVar
16g.3810728C>ACA394566104CREBBPc.850G>T (p.Gly284Ter)
n.92G>T
c.796G>T (p.Gly266Ter)
c.97G>T (p.Gly33Ter)
16g.3810728C=CA2202971864CREBBPc.850G= (p.Gly284=)
n.92G=
c.796G= (p.Gly266=)
c.97G= (p.Gly33=)
16g.3810728C>GCA394566102CREBBPc.850G>C (p.Gly284Arg)
n.92G>C
c.796G>C (p.Gly266Arg)
c.97G>C (p.Gly33Arg)
16g.3810728C>TCA394566103CREBBPc.850G>A (p.Gly284Arg)
n.92G>A
c.796G>A (p.Gly266Arg)
c.97G>A (p.Gly33Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810729A>CCA493277656CREBBPc.849T>G (p.Ala283=)
n.91T>G
c.795T>G (p.Ala265=)
c.96T>G (p.Ala32=)
16g.3810729A>GCA493277657CREBBPc.849T>C (p.Ala283=)
n.91T>C
c.795T>C (p.Ala265=)
c.96T>C (p.Ala32=)
16g.3810729A>TCA493277658CREBBPc.849T>A (p.Ala283=)
n.91T>A
c.795T>A (p.Ala265=)
c.96T>A (p.Ala32=)
16g.3810730G>ACA394566105CREBBPc.848C>T (p.Ala283Val)
n.90C>T
c.794C>T (p.Ala265Val)
c.95C>T (p.Ala32Val)
 dbSNP
16g.3810730G>CCA394566106CREBBPc.848C>G (p.Ala283Gly)
n.90C>G
c.794C>G (p.Ala265Gly)
c.95C>G (p.Ala32Gly)
16g.3810730G=CA2202971865CREBBPc.848C= (p.Ala283=)
n.90C=
c.794C= (p.Ala265=)
c.95C= (p.Ala32=)
16g.3810730G>TCA394566107CREBBPc.848C>A (p.Ala283Asp)
n.90C>A
c.794C>A (p.Ala265Asp)
c.95C>A (p.Ala32Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.3810731C>ACA394566108CREBBPc.847G>T (p.Ala283Ser)
n.89G>T
c.793G>T (p.Ala265Ser)
c.94G>T (p.Ala32Ser)
16g.3810731C>GCA394566109CREBBPc.847G>C (p.Ala283Pro)
n.89G>C
c.793G>C (p.Ala265Pro)
c.94G>C (p.Ala32Pro)
16g.3810731C>TCA394566110CREBBPc.847G>A (p.Ala283Thr)
n.89G>A
c.793G>A (p.Ala265Thr)
c.94G>A (p.Ala32Thr)
16g.3810732T>ACA394566111CREBBPc.846A>T (p.Gln282His)
n.88A>T
c.792A>T (p.Gln264His)
c.93A>T (p.Gln31His)
16g.3810732T>CCA493277659CREBBPc.846A>G (p.Gln282=)
n.88A>G
c.792A>G (p.Gln264=)
c.93A>G (p.Gln31=)
16g.3810732T>GCA394566112CREBBPc.846A>C (p.Gln282His)
n.88A>C
c.792A>C (p.Gln264His)
c.93A>C (p.Gln31His)
16g.3810733T>ACA394566113CREBBPc.845A>T (p.Gln282Leu)
n.87A>T
c.791A>T (p.Gln264Leu)
c.92A>T (p.Gln31Leu)
16g.3810733T>CCA394566114CREBBPc.845A>G (p.Gln282Arg)
n.87A>G
c.791A>G (p.Gln264Arg)
c.92A>G (p.Gln31Arg)
16g.3810733T>GCA394566115CREBBPc.845A>C (p.Gln282Pro)
n.87A>C
c.791A>C (p.Gln264Pro)
c.92A>C (p.Gln31Pro)
16g.3810734G>ACA394566117CREBBPc.844C>T (p.Gln282Ter)
n.86C>T
c.790C>T (p.Gln264Ter)
c.91C>T (p.Gln31Ter)
16g.3810734G>CCA394566118CREBBPc.844C>G (p.Gln282Glu)
n.86C>G
c.790C>G (p.Gln264Glu)
c.91C>G (p.Gln31Glu)
 gnomAD v4
16g.3810734G>TCA394566116CREBBPc.844C>A (p.Gln282Lys)
n.86C>A
c.790C>A (p.Gln264Lys)
c.91C>A (p.Gln31Lys)
16g.3810735A>CCA394566119CREBBPc.843T>G (p.Ser281Arg)
n.85T>G
c.789T>G (p.Ser263Arg)
c.90T>G (p.Ser30Arg)
16g.3810735A>GCA493277660CREBBPc.843T>C (p.Ser281=)
n.85T>C
c.789T>C (p.Ser263=)
c.90T>C (p.Ser30=)
16g.3810735A>TCA394566120CREBBPc.843T>A (p.Ser281Arg)
n.85T>A
c.789T>A (p.Ser263Arg)
c.90T>A (p.Ser30Arg)
16g.3810736C>ACA394566121CREBBPc.842G>T (p.Ser281Ile)
n.84G>T
c.788G>T (p.Ser263Ile)
c.89G>T (p.Ser30Ile)
16g.3810736C>GCA394566122CREBBPc.842G>C (p.Ser281Thr)
n.84G>C
c.788G>C (p.Ser263Thr)
c.89G>C (p.Ser30Thr)
16g.3810736C>TCA394566123CREBBPc.842G>A (p.Ser281Asn)
n.84G>A
c.788G>A (p.Ser263Asn)
c.89G>A (p.Ser30Asn)
16g.3810737T>ACA394566124CREBBPc.841A>T (p.Ser281Cys)
n.83A>T
c.787A>T (p.Ser263Cys)
c.88A>T (p.Ser30Cys)
16g.3810737T>CCA394566125CREBBPc.841A>G (p.Ser281Gly)
n.83A>G
c.787A>G (p.Ser263Gly)
c.88A>G (p.Ser30Gly)
16g.3810737T>GCA394566126CREBBPc.841A>C (p.Ser281Arg)
n.83A>C
c.787A>C (p.Ser263Arg)
c.88A>C (p.Ser30Arg)
16g.3810738A>CCA394566127CREBBPc.840T>G (p.Phe280Leu)
n.82T>G
c.786T>G (p.Phe262Leu)
c.87T>G (p.Phe29Leu)
16g.3810738A>GCA493277661CREBBPc.840T>C (p.Phe280=)
n.82T>C
c.786T>C (p.Phe262=)
c.87T>C (p.Phe29=)
 gnomAD v4
16g.3810738A>TCA394566128CREBBPc.840T>A (p.Phe280Leu)
n.82T>A
c.786T>A (p.Phe262Leu)
c.87T>A (p.Phe29Leu)
16g.3810740dupCA2695222702CREBBPc.840dup (p.Ser281Ter)
n.82dup
c.786dup (p.Ser263Ter)
c.87dup (p.Ser30Ter)
16g.3810740_3810752delCA2697549657CREBBPc.828_840del (p.Phe276LeufsTer14)
n.70_82del
c.774_786del (p.Phe258LeufsTer14)
c.75_87del (p.Phe25LeufsTer14)
 ClinVar
16g.3810739A>CCA394566129CREBBPc.839T>G (p.Phe280Cys)
n.81T>G
c.785T>G (p.Phe262Cys)
c.86T>G (p.Phe29Cys)
 gnomAD v4
16g.3810739A>GCA394566130CREBBPc.839T>C (p.Phe280Ser)
n.81T>C
c.785T>C (p.Phe262Ser)
c.86T>C (p.Phe29Ser)
 gnomAD v4
16g.3810739A>TCA394566131CREBBPc.839T>A (p.Phe280Tyr)
n.81T>A
c.785T>A (p.Phe262Tyr)
c.86T>A (p.Phe29Tyr)
16g.3810740A>CCA394566134CREBBPc.838T>G (p.Phe280Val)
n.80T>G
c.784T>G (p.Phe262Val)
c.85T>G (p.Phe29Val)
16g.3810740A>GCA394566133CREBBPc.838T>C (p.Phe280Leu)
n.80T>C
c.784T>C (p.Phe262Leu)
c.85T>C (p.Phe29Leu)
16g.3810740A>TCA394566132CREBBPc.838T>A (p.Phe280Ile)
n.80T>A
c.784T>A (p.Phe262Ile)
c.85T>A (p.Phe29Ile)
16g.3810741G>ACA493277662CREBBPc.837C>T (p.Pro279=)
n.79C>T
c.783C>T (p.Pro261=)
c.84C>T (p.Pro28=)
16g.3810741G>CCA493277663CREBBPc.837C>G (p.Pro279=)
n.79C>G
c.783C>G (p.Pro261=)
c.84C>G (p.Pro28=)
16g.3810741G>TCA493277664CREBBPc.837C>A (p.Pro279=)
n.79C>A
c.783C>A (p.Pro261=)
c.84C>A (p.Pro28=)
16g.3810742G>ACA277007877CREBBPc.836C>T (p.Pro279Leu)
n.78C>T
c.782C>T (p.Pro261Leu)
c.83C>T (p.Pro28Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.3810742G>CCA394566135CREBBPc.836C>G (p.Pro279Arg)
n.78C>G
c.782C>G (p.Pro261Arg)
c.83C>G (p.Pro28Arg)
16g.3810742G=CA2202971866CREBBPc.836C= (p.Pro279=)
n.78C=
c.782C= (p.Pro261=)
c.83C= (p.Pro28=)
16g.3810742G>TCA394566136CREBBPc.836C>A (p.Pro279His)
n.78C>A
c.782C>A (p.Pro261His)
c.83C>A (p.Pro28His)
 dbSNP
16g.3810743G>ACA394566137CREBBPc.835C>T (p.Pro279Ser)
n.77C>T
c.781C>T (p.Pro261Ser)
c.82C>T (p.Pro28Ser)
16g.3810743G>CCA394566138CREBBPc.835C>G (p.Pro279Ala)
n.77C>G
c.781C>G (p.Pro261Ala)
c.82C>G (p.Pro28Ala)
16g.3810743G>TCA394566139CREBBPc.835C>A (p.Pro279Thr)
n.77C>A
c.781C>A (p.Pro261Thr)
c.82C>A (p.Pro28Thr)
16g.3810744C>ACA394566140CREBBPc.834G>T (p.Gln278His)
n.76G>T
c.780G>T (p.Gln260His)
c.81G>T (p.Gln27His)
16g.3810744C>GCA394566141CREBBPc.834G>C (p.Gln278His)
n.76G>C
c.780G>C (p.Gln260His)
c.81G>C (p.Gln27His)
16g.3810744C>TCA493277665CREBBPc.834G>A (p.Gln278=)
n.76G>A
c.780G>A (p.Gln260=)
c.81G>A (p.Gln27=)
16g.3810745T>ACA394566142CREBBPc.833A>T (p.Gln278Leu)
n.75A>T
c.779A>T (p.Gln260Leu)
c.80A>T (p.Gln27Leu)
16g.3810745T>CCA394566143CREBBPc.833A>G (p.Gln278Arg)
n.75A>G
c.779A>G (p.Gln260Arg)
c.80A>G (p.Gln27Arg)
16g.3810745T>GCA7870574CREBBPc.833A>C (p.Gln278Pro)
n.75A>C
c.779A>C (p.Gln260Pro)
c.80A>C (p.Gln27Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810745T=CA2202971867CREBBPc.833A= (p.Gln278=)
n.75A=
c.779A= (p.Gln260=)
c.80A= (p.Gln27=)
16g.3810746G>ACA394566144CREBBPc.832C>T (p.Gln278Ter)
n.74C>T
c.778C>T (p.Gln260Ter)
c.79C>T (p.Gln27Ter)
 dbSNP
16g.3810746G>CCA394566145CREBBPc.832C>G (p.Gln278Glu)
n.74C>G
c.778C>G (p.Gln260Glu)
c.79C>G (p.Gln27Glu)
 gnomAD v4
16g.3810746G>TCA394566146CREBBPc.832C>A (p.Gln278Lys)
n.74C>A
c.778C>A (p.Gln260Lys)
c.79C>A (p.Gln27Lys)
16g.3810747T>ACA493277666CREBBPc.831A>T (p.Gly277=)
n.73A>T
c.777A>T (p.Gly259=)
c.78A>T (p.Gly26=)
16g.3810747T>CCA493277667CREBBPc.831A>G (p.Gly277=)
n.73A>G
c.777A>G (p.Gly259=)
c.78A>G (p.Gly26=)
 dbSNP gnomAD v4
16g.3810747T>GCA493277668CREBBPc.831A>C (p.Gly277=)
n.73A>C
c.777A>C (p.Gly259=)
c.78A>C (p.Gly26=)
16g.3810747T=CA2202971868CREBBPc.831A= (p.Gly277=)
n.73A=
c.777A= (p.Gly259=)
c.78A= (p.Gly26=)
16g.3810748C>ACA394566148CREBBPc.830G>T (p.Gly277Val)
n.72G>T
c.776G>T (p.Gly259Val)
c.77G>T (p.Gly26Val)
16g.3810748C>GCA394566149CREBBPc.830G>C (p.Gly277Ala)
n.72G>C
c.776G>C (p.Gly259Ala)
c.77G>C (p.Gly26Ala)
16g.3810748C>TCA394566147CREBBPc.830G>A (p.Gly277Glu)
n.72G>A
c.776G>A (p.Gly259Glu)
c.77G>A (p.Gly26Glu)
 gnomAD v4
16g.3810749C>ACA394566150CREBBPc.829G>T (p.Gly277Ter)
n.71G>T
c.775G>T (p.Gly259Ter)
c.76G>T (p.Gly26Ter)
 dbSNP
16g.3810749C=CA2202971869CREBBPc.829G= (p.Gly277=)
n.71G=
c.775G= (p.Gly259=)
c.76G= (p.Gly26=)
16g.3810749C>GCA394566151CREBBPc.829G>C (p.Gly277Arg)
n.71G>C
c.775G>C (p.Gly259Arg)
c.76G>C (p.Gly26Arg)
16g.3810749C>TCA394566152CREBBPc.829G>A (p.Gly277Arg)
n.71G>A
c.775G>A (p.Gly259Arg)
c.76G>A (p.Gly26Arg)
16g.3810750A>CCA394566153CREBBPc.828T>G (p.Phe276Leu)
n.70T>G
c.774T>G (p.Phe258Leu)
c.75T>G (p.Phe25Leu)
16g.3810750A>GCA493277669CREBBPc.828T>C (p.Phe276=)
n.70T>C
c.774T>C (p.Phe258=)
c.75T>C (p.Phe25=)
16g.3810750A>TCA394566154CREBBPc.828T>A (p.Phe276Leu)
n.70T>A
c.774T>A (p.Phe258Leu)
c.75T>A (p.Phe25Leu)
16g.3810751_3810752dupCA276962CREBBPc.827_828dup (p.Gly277LeufsTer18)
n.69_70dup
c.773_774dup (p.Gly259LeufsTer18)
c.74_75dup (p.Gly26LeufsTer18)
 ClinVar dbSNP
16g.3810751A=CA2202971870CREBBPc.827T= (p.Phe276=)
n.69T=
c.773T= (p.Phe258=)
c.74T= (p.Phe25=)
16g.3810751A>CCA394566155CREBBPc.827T>G (p.Phe276Cys)
n.69T>G
c.773T>G (p.Phe258Cys)
c.74T>G (p.Phe25Cys)
16g.3810751A>GCA394566157CREBBPc.827T>C (p.Phe276Ser)
n.69T>C
c.773T>C (p.Phe258Ser)
c.74T>C (p.Phe25Ser)
 ClinVar dbSNP
16g.3810751A>TCA394566156CREBBPc.827T>A (p.Phe276Tyr)
n.69T>A
c.773T>A (p.Phe258Tyr)
c.74T>A (p.Phe25Tyr)
16g.3810752A>CCA394566158CREBBPc.826T>G (p.Phe276Val)
n.68T>G
c.772T>G (p.Phe258Val)
c.73T>G (p.Phe25Val)
16g.3810752A>GCA394566159CREBBPc.826T>C (p.Phe276Leu)
n.68T>C
c.772T>C (p.Phe258Leu)
c.73T>C (p.Phe25Leu)
16g.3810752A>TCA394566160CREBBPc.826T>A (p.Phe276Ile)
n.68T>A
c.772T>A (p.Phe258Ile)
c.73T>A (p.Phe25Ile)
16g.3810753T>ACA493277670CREBBPc.825A>T (p.Pro275=)
n.67A>T
c.771A>T (p.Pro257=)
c.72A>T (p.Pro24=)
16g.3810753T>CCA493277671CREBBPc.825A>G (p.Pro275=)
n.67A>G
c.771A>G (p.Pro257=)
c.72A>G (p.Pro24=)
 dbSNP gnomAD v3 gnomAD v4
16g.3810753T>GCA7870575CREBBPc.825A>C (p.Pro275=)
n.67A>C
c.771A>C (p.Pro257=)
c.72A>C (p.Pro24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810753T=CA2202971871CREBBPc.825A= (p.Pro275=)
n.67A=
c.771A= (p.Pro257=)
c.72A= (p.Pro24=)
16g.3810754G>ACA277007885CREBBPc.824C>T (p.Pro275Leu)
n.66C>T
c.770C>T (p.Pro257Leu)
c.71C>T (p.Pro24Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3810754G>CCA394566162CREBBPc.824C>G (p.Pro275Arg)
n.66C>G
c.770C>G (p.Pro257Arg)
c.71C>G (p.Pro24Arg)
16g.3810754G=CA2202971872CREBBPc.824C= (p.Pro275=)
n.66C=
c.770C= (p.Pro257=)
c.71C= (p.Pro24=)
16g.3810754G>TCA394566161CREBBPc.824C>A (p.Pro275Gln)
n.66C>A
c.770C>A (p.Pro257Gln)
c.71C>A (p.Pro24Gln)
 COSMIC
16g.3810755G>ACA394566163CREBBPc.823C>T (p.Pro275Ser)
n.65C>T
c.769C>T (p.Pro257Ser)
c.70C>T (p.Pro24Ser)
 dbSNP COSMIC
16g.3810755G>CCA7870576CREBBPc.823C>G (p.Pro275Ala)
n.65C>G
c.769C>G (p.Pro257Ala)
c.70C>G (p.Pro24Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810755G=CA2202971873CREBBPc.823C= (p.Pro275=)
n.65C=
c.769C= (p.Pro257=)
c.70C= (p.Pro24=)
16g.3810755G>TCA394566164CREBBPc.823C>A (p.Pro275Thr)
n.65C>A
c.769C>A (p.Pro257Thr)
c.70C>A (p.Pro24Thr)
16g.3810756A>CCA394566165CREBBPc.822T>G (p.Ser274Arg)
n.64T>G
c.768T>G (p.Ser256Arg)
c.69T>G (p.Ser23Arg)
16g.3810756A>GCA493277672CREBBPc.822T>C (p.Ser274=)
n.64T>C
c.768T>C (p.Ser256=)
c.69T>C (p.Ser23=)
16g.3810756A>TCA394566166CREBBPc.822T>A (p.Ser274Arg)
n.64T>A
c.768T>A (p.Ser256Arg)
c.69T>A (p.Ser23Arg)
 dbSNP
16g.3810757C>ACA394566167CREBBPc.821G>T (p.Ser274Ile)
n.63G>T
c.767G>T (p.Ser256Ile)
c.68G>T (p.Ser23Ile)
16g.3810757C>GCA394566168CREBBPc.821G>C (p.Ser274Thr)
n.63G>C
c.767G>C (p.Ser256Thr)
c.68G>C (p.Ser23Thr)
16g.3810757C>TCA394566169CREBBPc.821G>A (p.Ser274Asn)
n.63G>A
c.767G>A (p.Ser256Asn)
c.68G>A (p.Ser23Asn)
16g.3810758T>ACA394566170CREBBPc.820A>T (p.Ser274Cys)
n.62A>T
c.766A>T (p.Ser256Cys)
c.67A>T (p.Ser23Cys)
16g.3810758T>CCA394566171CREBBPc.820A>G (p.Ser274Gly)
n.62A>G
c.766A>G (p.Ser256Gly)
c.67A>G (p.Ser23Gly)
16g.3810758T>GCA394566172CREBBPc.820A>C (p.Ser274Arg)
n.62A>C
c.766A>C (p.Ser256Arg)
c.67A>C (p.Ser23Arg)
16g.3810759T>ACA493277675CREBBPc.819A>T (p.Thr273=)
n.61A>T
c.765A>T (p.Thr255=)
c.66A>T (p.Thr22=)
16g.3810759T>CCA493277674CREBBPc.819A>G (p.Thr273=)
n.61A>G
c.765A>G (p.Thr255=)
c.66A>G (p.Thr22=)
16g.3810759T>GCA493277673CREBBPc.819A>C (p.Thr273=)
n.61A>C
c.765A>C (p.Thr255=)
c.66A>C (p.Thr22=)
16g.3810760G>ACA394566174CREBBPc.818C>T (p.Thr273Ile)
n.60C>T
c.764C>T (p.Thr255Ile)
c.65C>T (p.Thr22Ile)
 dbSNP
16g.3810760G>CCA394566175CREBBPc.818C>G (p.Thr273Arg)
n.60C>G
c.764C>G (p.Thr255Arg)
c.65C>G (p.Thr22Arg)
 dbSNP gnomAD v4
16g.3810760G=CA2202971874CREBBPc.818C= (p.Thr273=)
n.60C=
c.764C= (p.Thr255=)
c.65C= (p.Thr22=)
16g.3810760G>TCA394566173CREBBPc.818C>A (p.Thr273Lys)
n.60C>A
c.764C>A (p.Thr255Lys)
c.65C>A (p.Thr22Lys)
16g.3810761T>ACA394566176CREBBPc.817A>T (p.Thr273Ser)
n.59A>T
c.763A>T (p.Thr255Ser)
c.64A>T (p.Thr22Ser)
16g.3810761T>CCA394566178CREBBPc.817A>G (p.Thr273Ala)
n.59A>G
c.763A>G (p.Thr255Ala)
c.64A>G (p.Thr22Ala)
16g.3810761T>GCA394566177CREBBPc.817A>C (p.Thr273Pro)
n.59A>C
c.763A>C (p.Thr255Pro)
c.64A>C (p.Thr22Pro)
 gnomAD v4
16g.3810762G>ACA493277676CREBBPc.816C>T (p.Asn272=)
n.58C>T
c.762C>T (p.Asn254=)
c.63C>T (p.Asn21=)
 dbSNP
16g.3810762G>CCA394566179CREBBPc.816C>G (p.Asn272Lys)
n.58C>G
c.762C>G (p.Asn254Lys)
c.63C>G (p.Asn21Lys)
16g.3810762G>TCA394566180CREBBPc.816C>A (p.Asn272Lys)
n.58C>A
c.762C>A (p.Asn254Lys)
c.63C>A (p.Asn21Lys)
16g.3810763T>ACA394566181CREBBPc.815A>T (p.Asn272Ile)
n.57A>T
c.761A>T (p.Asn254Ile)
c.62A>T (p.Asn21Ile)
16g.3810763T>CCA394566182CREBBPc.815A>G (p.Asn272Ser)
n.57A>G
c.761A>G (p.Asn254Ser)
c.62A>G (p.Asn21Ser)
16g.3810763T>GCA394566183CREBBPc.815A>C (p.Asn272Thr)
n.57A>C
c.761A>C (p.Asn254Thr)
c.62A>C (p.Asn21Thr)
16g.3810764T>ACA394566184CREBBPc.814A>T (p.Asn272Tyr)
n.56A>T
c.760A>T (p.Asn254Tyr)
c.61A>T (p.Asn21Tyr)
 gnomAD v4
16g.3810764T>CCA394566185CREBBPc.814A>G (p.Asn272Asp)
n.56A>G
c.760A>G (p.Asn254Asp)
c.61A>G (p.Asn21Asp)
16g.3810764T>GCA394566186CREBBPc.814A>C (p.Asn272His)
n.56A>C
c.760A>C (p.Asn254His)
c.61A>C (p.Asn21His)
16g.3810765C>ACA493277677CREBBPc.813G>T (p.Gly271=)
n.55G>T
c.759G>T (p.Gly253=)
c.60G>T (p.Gly20=)
 gnomAD v4
16g.3810765C=CA2202971875CREBBPc.813G= (p.Gly271=)
n.55G=
c.759G= (p.Gly253=)
c.60G= (p.Gly20=)
16g.3810765C>GCA7870577CREBBPc.813G>C (p.Gly271=)
n.55G>C
c.759G>C (p.Gly253=)
c.60G>C (p.Gly20=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810765C>TCA493277678CREBBPc.813G>A (p.Gly271=)
n.55G>A
c.759G>A (p.Gly253=)
c.60G>A (p.Gly20=)
 gnomAD v4
16g.3810766C>ACA394566190CREBBPc.812G>T (p.Gly271Val)
n.54G>T
c.758G>T (p.Gly253Val)
c.59G>T (p.Gly20Val)
16g.3810766C=CA2202971876CREBBPc.812G= (p.Gly271=)
n.54G=
c.758G= (p.Gly253=)
c.59G= (p.Gly20=)
16g.3810766C>GCA394566192CREBBPc.812G>C (p.Gly271Ala)
n.54G>C
c.758G>C (p.Gly253Ala)
c.59G>C (p.Gly20Ala)
16g.3810766C>TCA394566191CREBBPc.812G>A (p.Gly271Glu)
n.54G>A
c.758G>A (p.Gly253Glu)
c.59G>A (p.Gly20Glu)
 dbSNP gnomAD v4
16g.3810767C>ACA394566195CREBBPc.811G>T (p.Gly271Trp)
n.53G>T
c.757G>T (p.Gly253Trp)
c.58G>T (p.Gly20Trp)
16g.3810767C>GCA394566196CREBBPc.811G>C (p.Gly271Arg)
n.53G>C
c.757G>C (p.Gly253Arg)
c.58G>C (p.Gly20Arg)
16g.3810767C>TCA394566198CREBBPc.811G>A (p.Gly271Arg)
n.53G>A
c.757G>A (p.Gly253Arg)
c.58G>A (p.Gly20Arg)
16g.3810767_3810768delCA2695222703CREBBPc.810_811del (p.Gly271GlufsTer10)
n.52_53del
c.756_757del (p.Gly253GlufsTer10)
c.57_58del (p.Gly20GlufsTer10)
16g.3810768A=CA2202971877CREBBPc.810T= (p.Thr270=)
n.52T=
c.756T= (p.Thr252=)
c.57T= (p.Thr19=)
16g.3810768A>CCA493277679CREBBPc.810T>G (p.Thr270=)
n.52T>G
c.756T>G (p.Thr252=)
c.57T>G (p.Thr19=)
16g.3810768A>GCA7870578CREBBPc.810T>C (p.Thr270=)
n.52T>C
c.756T>C (p.Thr252=)
c.57T>C (p.Thr19=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810768A>TCA493277680CREBBPc.810T>A (p.Thr270=)
n.52T>A
c.756T>A (p.Thr252=)
c.57T>A (p.Thr19=)
16g.3810769G>ACA394566204CREBBPc.809C>T (p.Thr270Ile)
n.51C>T
c.755C>T (p.Thr252Ile)
c.56C>T (p.Thr19Ile)
 dbSNP
16g.3810769G>CCA394566202CREBBPc.809C>G (p.Thr270Ser)
n.51C>G
c.755C>G (p.Thr252Ser)
c.56C>G (p.Thr19Ser)
16g.3810769G=CA2202971878CREBBPc.809C= (p.Thr270=)
n.51C=
c.755C= (p.Thr252=)
c.56C= (p.Thr19=)
16g.3810769G>TCA394566203CREBBPc.809C>A (p.Thr270Asn)
n.51C>A
c.755C>A (p.Thr252Asn)
c.56C>A (p.Thr19Asn)
16g.3810770T>ACA394566207CREBBPc.808A>T (p.Thr270Ser)
n.50A>T
c.754A>T (p.Thr252Ser)
c.55A>T (p.Thr19Ser)
 dbSNP
16g.3810770T>CCA394566208CREBBPc.808A>G (p.Thr270Ala)
n.50A>G
c.754A>G (p.Thr252Ala)
c.55A>G (p.Thr19Ala)
16g.3810770T>GCA394566210CREBBPc.808A>C (p.Thr270Pro)
n.50A>C
c.754A>C (p.Thr252Pro)
c.55A>C (p.Thr19Pro)
16g.3810771T>ACA7870579CREBBPc.807A>T (p.Ile269=)
n.49A>T
c.753A>T (p.Ile251=)
c.54A>T (p.Ile18=)
 dbSNP ExAC gnomAD v2
16g.3810771T>CCA394566211CREBBPc.807A>G (p.Ile269Met)
n.49A>G
c.753A>G (p.Ile251Met)
c.54A>G (p.Ile18Met)
16g.3810771T>GCA493277681CREBBPc.807A>C (p.Ile269=)
n.49A>C
c.753A>C (p.Ile251=)
c.54A>C (p.Ile18=)
16g.3810771T=CA2202971879CREBBPc.807A= (p.Ile269=)
n.49A=
c.753A= (p.Ile251=)
c.54A= (p.Ile18=)
16g.3810772_3810773delCA2695222704CREBBPc.806_807del (p.Ile269AsnfsTer12)
n.48_49del
c.752_753del (p.Ile251AsnfsTer12)
c.53_54del (p.Ile18AsnfsTer12)
16g.3810772A>CCA394566213CREBBPc.806T>G (p.Ile269Arg)
n.48T>G
c.752T>G (p.Ile251Arg)
c.53T>G (p.Ile18Arg)
16g.3810772A>GCA394566215CREBBPc.806T>C (p.Ile269Thr)
n.48T>C
c.752T>C (p.Ile251Thr)
c.53T>C (p.Ile18Thr)
16g.3810772A>TCA394566216CREBBPc.806T>A (p.Ile269Lys)
n.48T>A
c.752T>A (p.Ile251Lys)
c.53T>A (p.Ile18Lys)
16g.3810773T>ACA394566218CREBBPc.805A>T (p.Ile269Leu)
n.47A>T
c.751A>T (p.Ile251Leu)
c.52A>T (p.Ile18Leu)
16g.3810773T>CCA394566220CREBBPc.805A>G (p.Ile269Val)
n.47A>G
c.751A>G (p.Ile251Val)
c.52A>G (p.Ile18Val)
 ClinVar dbSNP
16g.3810773T>GCA394566221CREBBPc.805A>C (p.Ile269Leu)
n.47A>C
c.751A>C (p.Ile251Leu)
c.52A>C (p.Ile18Leu)
16g.3810773T=CA2202971880CREBBPc.805A= (p.Ile269=)
n.47A=
c.751A= (p.Ile251=)
c.52A= (p.Ile18=)
16g.3810774T>ACA7870580CREBBPc.804A>T (p.Gly268=)
n.46A>T
c.750A>T (p.Gly250=)
c.51A>T (p.Gly17=)
 dbSNP ExAC gnomAD v2
16g.3810774T>CCA493277682CREBBPc.804A>G (p.Gly268=)
n.46A>G
c.750A>G (p.Gly250=)
c.51A>G (p.Gly17=)
16g.3810774T>GCA493277683CREBBPc.804A>C (p.Gly268=)
n.46A>C
c.750A>C (p.Gly250=)
c.51A>C (p.Gly17=)
16g.3810774T=CA2202971881CREBBPc.804A= (p.Gly268=)
n.46A=
c.750A= (p.Gly250=)
c.51A= (p.Gly17=)
16g.3810775C>ACA394566225CREBBPc.803G>T (p.Gly268Val)
n.45G>T
c.749G>T (p.Gly250Val)
c.50G>T (p.Gly17Val)
 dbSNP gnomAD v2 gnomAD v4
16g.3810775C=CA2202971882CREBBPc.803G= (p.Gly268=)
n.45G=
c.749G= (p.Gly250=)
c.50G= (p.Gly17=)
16g.3810775C>GCA394566228CREBBPc.803G>C (p.Gly268Ala)
n.45G>C
c.749G>C (p.Gly250Ala)
c.50G>C (p.Gly17Ala)
 dbSNP gnomAD v2
16g.3810775C>TCA394566226CREBBPc.803G>A (p.Gly268Glu)
n.45G>A
c.749G>A (p.Gly250Glu)
c.50G>A (p.Gly17Glu)
 dbSNP
16g.3810775_3810782delCA620714721CREBBPc.799-3_803del
n.41-3_45del
c.745-3_749del
c.46-3_50del
 gnomAD v2
16g.3810776C>ACA394566230CREBBPc.802G>T (p.Gly268Ter)
n.44G>T
c.748G>T (p.Gly250Ter)
c.49G>T (p.Gly17Ter)
 ClinVar dbSNP
16g.3810776C=CA2202971883CREBBPc.802G= (p.Gly268=)
n.44G=
c.748G= (p.Gly250=)
c.49G= (p.Gly17=)
16g.3810776C>GCA394566232CREBBPc.802G>C (p.Gly268Arg)
n.44G>C
c.748G>C (p.Gly250Arg)
c.49G>C (p.Gly17Arg)
16g.3810776C>TCA394566233CREBBPc.802G>A (p.Gly268Arg)
n.44G>A
c.748G>A (p.Gly250Arg)
c.49G>A (p.Gly17Arg)
 dbSNP
16g.3810776_3810782delCA620714722CREBBPc.799-3_802del
n.41-3_44del
c.745-3_748del
c.46-3_49del
 gnomAD v2
16g.3810777C>ACA394566236CREBBPc.801G>T (p.Met267Ile)
n.43G>T
c.747G>T (p.Met249Ile)
c.48G>T (p.Met16Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3810777C=CA2202971884CREBBPc.801G= (p.Met267=)
n.43G=
c.747G= (p.Met249=)
c.48G= (p.Met16=)
16g.3810777C>GCA394566237CREBBPc.801G>C (p.Met267Ile)
n.43G>C
c.747G>C (p.Met249Ile)
c.48G>C (p.Met16Ile)
16g.3810777C>TCA394566239CREBBPc.801G>A (p.Met267Ile)
n.43G>A
c.747G>A (p.Met249Ile)
c.48G>A (p.Met16Ile)
 dbSNP
16g.3810778A>CCA394566241CREBBPc.800T>G (p.Met267Arg)
n.42T>G
c.746T>G (p.Met249Arg)
c.47T>G (p.Met16Arg)
16g.3810778A>GCA394566243CREBBPc.800T>C (p.Met267Thr)
n.42T>C
c.746T>C (p.Met249Thr)
c.47T>C (p.Met16Thr)
16g.3810778A>TCA394566245CREBBPc.800T>A (p.Met267Lys)
n.42T>A
c.746T>A (p.Met249Lys)
c.47T>A (p.Met16Lys)
16g.3810778_3810782delinsATCTGCA2202971885CREBBPc.799-3_800delinsCAGAT
n.41-3_42delinsCAGAT
c.745-3_746delinsCAGAT
c.46-3_47delinsCAGAT
16g.3810779T>ACA394566247CREBBPc.799A>T (p.Met267Leu)
n.41A>T
c.745A>T (p.Met249Leu)
c.46A>T (p.Met16Leu)
 ClinVar gnomAD v4
16g.3810779T>CCA7870581CREBBPc.799A>G (p.Met267Val)
n.41A>G
c.745A>G (p.Met249Val)
c.46A>G (p.Met16Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810779T>GCA394566248CREBBPc.799A>C (p.Met267Leu)
n.41A>C
c.745A>C (p.Met249Leu)
c.46A>C (p.Met16Leu)
16g.3810779T=CA2202971886CREBBPc.799A= (p.Met267=)
n.41A=
c.745A= (p.Met249=)
c.46A= (p.Met16=)
16g.3810779_3810782delCA620714723CREBBPc.799-3_799del
n.41-3_41del
c.745-3_745del
c.46-3_46del
 dbSNP gnomAD v2 gnomAD v4
16g.3810780C>ACA394566254CREBBPc.799-1G>T (n.799-1G>T)
n.41-1G>T
c.745-1G>T (n.745-1G>T)
c.46-1G>T (n.46-1G>T)
16g.3810780C>GCA394566250CREBBPc.799-1G>C (n.799-1G>C)
n.41-1G>C
c.745-1G>C (n.745-1G>C)
c.46-1G>C (n.46-1G>C)
 gnomAD v4
16g.3810780C>TCA394566253CREBBPc.799-1G>A (n.799-1G>A)
n.41-1G>A
c.745-1G>A (n.745-1G>A)
c.46-1G>A (n.46-1G>A)
16g.3810781T>ACA394566256CREBBPc.799-2A>T (n.799-2A>T)
n.41-2A>T
c.745-2A>T (n.745-2A>T)
c.46-2A>T (n.46-2A>T)
16g.3810781T>CCA394566258CREBBPc.799-2A>G (n.799-2A>G)
n.41-2A>G
c.745-2A>G (n.745-2A>G)
c.46-2A>G (n.46-2A>G)
16g.3810781T>GCA394566259CREBBPc.799-2A>C (n.799-2A>C)
n.41-2A>C
c.745-2A>C (n.745-2A>C)
c.46-2A>C (n.46-2A>C)
16g.3810782G>ACA620714724CREBBPc.799-3C>T (n.799-3C>T)
n.41-3C>T
c.745-3C>T (n.745-3C>T)
c.46-3C>T (n.46-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810782G=CA2202971887CREBBPc.799-3C= (n.799-3C=)
n.41-3C=
c.745-3C= (n.745-3C=)
c.46-3C= (n.46-3C=)
16g.3810785_3810786insAAAACA620714727CREBBPc.799-4_799-3insTTTT (n.799-4_799-3insTTTT)
n.41-4_41-3insTTTT
c.745-4_745-3insTTTT (n.745-4_745-3insTTTT)
c.46-4_46-3insTTTT (n.46-4_46-3insTTTT)
 gnomAD v2
16g.3810785_3810786insAAAAAAACA620714725CREBBPc.799-4_799-3insTTTTTTT (n.799-4_799-3insTTTTTTT)
n.41-4_41-3insTTTTTTT
c.745-4_745-3insTTTTTTT (n.745-4_745-3insTTTTTTT)
c.46-4_46-3insTTTTTTT (n.46-4_46-3insTTTTTTT)
 gnomAD v2
16g.3810785_3810786insAAAAAAAACA620714726CREBBPc.799-4_799-3insTTTTTTTT (n.799-4_799-3insTTTTTTTT)
n.41-4_41-3insTTTTTTTT
c.745-4_745-3insTTTTTTTT (n.745-4_745-3insTTTTTTTT)
c.46-4_46-3insTTTTTTTT (n.46-4_46-3insTTTTTTTT)
 gnomAD v2
16g.3810786C>ACA620714728CREBBPc.799-7G>T (n.799-7G>T)
n.41-7G>T
c.745-7G>T (n.745-7G>T)
c.46-7G>T (n.46-7G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3810786C=CA2202971888CREBBPc.799-7G= (n.799-7G=)
n.41-7G=
c.745-7G= (n.745-7G=)
c.46-7G= (n.46-7G=)
16g.3810786C>GCA620714729CREBBPc.799-7G>C (n.799-7G>C)
n.41-7G>C
c.745-7G>C (n.745-7G>C)
c.46-7G>C (n.46-7G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.3810786C>TCA620714730CREBBPc.799-7G>A (n.799-7G>A)
n.41-7G>A
c.745-7G>A (n.745-7G>A)
c.46-7G>A (n.46-7G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.3810786_3810790delinsCAAAACA2202971889CREBBPc.799-11_799-7delinsTTTTG (n.799-11_799-7delinsTTTTG)
n.41-11_41-7delinsTTTTG
c.745-11_745-7delinsTTTTG (n.745-11_745-7delinsTTTTG)
c.46-11_46-7delinsTTTTG (n.46-11_46-7delinsTTTTG)
16g.3810792delCA7870582CREBBPc.799-8del (n.799-8del)
n.41-8del
c.745-8del (n.745-8del)
c.46-8del (n.46-8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810789_3810792delCA2202971890CREBBPc.799-11_799-8del (n.799-11_799-8del)
n.41-11_41-8del
c.745-11_745-8del (n.745-11_745-8del)
c.46-11_46-8del (n.46-11_46-8del)
 dbSNP
16g.3810788_3810789insCCA2805635795CREBBPc.799-10_799-9insG (n.799-10_799-9insG)
n.41-10_41-9insG
c.745-10_745-9insG (n.745-10_745-9insG)
c.46-10_46-9insG (n.46-10_46-9insG)
16g.3810789A>GCA2514123889CREBBPc.799-10T>C (n.799-10T>C)
n.41-10T>C
c.745-10T>C (n.745-10T>C)
c.46-10T>C (n.46-10T>C)
16g.3810789A>TCA645596814CREBBPc.799-10T>A (n.799-10T>A)
n.41-10T>A
c.745-10T>A (n.745-10T>A)
c.46-10T>A (n.46-10T>A)
 COSMIC
16g.3810790A=CA2202971891CREBBPc.799-11T= (n.799-11T=)
n.41-11T=
c.745-11T= (n.745-11T=)
c.46-11T= (n.46-11T=)
16g.3810790A>GCA277007907CREBBPc.799-11T>C (n.799-11T>C)
n.41-11T>C
c.745-11T>C (n.745-11T>C)
c.46-11T>C (n.46-11T>C)
 dbSNP gnomAD v4 COSMIC
16g.3810790A>TCA2631429544CREBBPc.799-11T>A (n.799-11T>A)
n.41-11T>A
c.745-11T>A (n.745-11T>A)
c.46-11T>A (n.46-11T>A)
 gnomAD v4
16g.3810791_3810792insCCAAACACACCCAACACCA2805635799CREBBPc.799-13_799-12insGTGTTGGGTGTGTTTGG (n.799-13_799-12insGTGTTGGGTGTGTTTGG)
n.41-13_41-12insGTGTTGGGTGTGTTTGG
c.745-13_745-12insGTGTTGGGTGTGTTTGG (n.745-13_745-12insGTGTTGGGTGTGTTTGG)
c.46-13_46-12insGTGTTGGGTGTGTTTGG (n.46-13_46-12insGTGTTGGGTGTGTTTGG)
16g.3810793G>ACA2202971893CREBBPc.799-14C>T (n.799-14C>T)
n.41-14C>T
c.745-14C>T (n.745-14C>T)
c.46-14C>T (n.46-14C>T)
 dbSNP gnomAD v4
16g.3810793G=CA2202971892CREBBPc.799-14C= (n.799-14C=)
n.41-14C=
c.745-14C= (n.745-14C=)
c.46-14C= (n.46-14C=)
16g.3810795G>ACA2202971895CREBBPc.799-16C>T (n.799-16C>T)
n.41-16C>T
c.745-16C>T (n.745-16C>T)
c.46-16C>T (n.46-16C>T)
 dbSNP
16g.3810795G>CCA2731647219CREBBPc.799-16C>G (n.799-16C>G)
n.41-16C>G
c.745-16C>G (n.745-16C>G)
c.46-16C>G (n.46-16C>G)
 dbSNP
16g.3810795G=CA2202971894CREBBPc.799-16C= (n.799-16C=)
n.41-16C=
c.745-16C= (n.745-16C=)
c.46-16C= (n.46-16C=)
16g.3810795G>TCA2731647220CREBBPc.799-16C>A (n.799-16C>A)
n.41-16C>A
c.745-16C>A (n.745-16C>A)
c.46-16C>A (n.46-16C>A)
 dbSNP
16g.3810797T>ACA2575918627CREBBPc.799-18A>T (n.799-18A>T)
n.41-18A>T
c.745-18A>T (n.745-18A>T)
c.46-18A>T (n.46-18A>T)
 ClinVar
16g.3810798A>CCA656223927CREBBPc.799-19T>G (n.799-19T>G)
n.41-19T>G
c.745-19T>G (n.745-19T>G)
c.46-19T>G (n.46-19T>G)
 COSMIC
16g.3810799delCA2573151997CREBBPc.799-19del (n.799-19del)
n.41-19del
c.745-19del (n.745-19del)
c.46-19del (n.46-19del)
 ClinVar dbSNP
16g.3810799A>CCA2631429545CREBBPc.799-20T>G (n.799-20T>G)
n.41-20T>G
c.745-20T>G (n.745-20T>G)
c.46-20T>G (n.46-20T>G)
 gnomAD v4
16g.3810799A>TCA2631429546CREBBPc.799-20T>A (n.799-20T>A)
n.41-20T>A
c.745-20T>A (n.745-20T>A)
c.46-20T>A (n.46-20T>A)
 gnomAD v4
16g.3810800C>TCA2631429547CREBBPc.799-21G>A (n.799-21G>A)
n.41-21G>A
c.745-21G>A (n.745-21G>A)
c.46-21G>A (n.46-21G>A)
 gnomAD v4
16g.3810801A>GCA2631429548CREBBPc.799-22T>C (n.799-22T>C)
n.41-22T>C
c.745-22T>C (n.745-22T>C)
c.46-22T>C (n.46-22T>C)
 gnomAD v4
16g.3810802T>ACA7870583CREBBPc.799-23A>T (n.799-23A>T)
n.41-23A>T
c.745-23A>T (n.745-23A>T)
c.46-23A>T (n.46-23A>T)
 dbSNP ExAC gnomAD v2
16g.3810802T>CCA2202971897CREBBPc.799-23A>G (n.799-23A>G)
n.41-23A>G
c.745-23A>G (n.745-23A>G)
c.46-23A>G (n.46-23A>G)
 dbSNP
16g.3810802T>GCA2631429549CREBBPc.799-23A>C (n.799-23A>C)
n.41-23A>C
c.745-23A>C (n.745-23A>C)
c.46-23A>C (n.46-23A>C)
 gnomAD v4
16g.3810802T=CA2202971896CREBBPc.799-23A= (n.799-23A=)
n.41-23A=
c.745-23A= (n.745-23A=)
c.46-23A= (n.46-23A=)
16g.3810803C>ACA2575918628CREBBPc.799-24G>T (n.799-24G>T)
n.41-24G>T
c.745-24G>T (n.745-24G>T)
c.46-24G>T (n.46-24G>T)
16g.3810803C=CA2202971898CREBBPc.799-24G= (n.799-24G=)
n.41-24G=
c.745-24G= (n.745-24G=)
c.46-24G= (n.46-24G=)
16g.3810803C>TCA2202971899CREBBPc.799-24G>A (n.799-24G>A)
n.41-24G>A
c.745-24G>A (n.745-24G>A)
c.46-24G>A (n.46-24G>A)
 dbSNP
16g.3810804A=CA2202971900CREBBPc.799-25T= (n.799-25T=)
n.41-25T=
c.745-25T= (n.745-25T=)
c.46-25T= (n.46-25T=)
16g.3810804A>CCA620714731CREBBPc.799-25T>G (n.799-25T>G)
n.41-25T>G
c.745-25T>G (n.745-25T>G)
c.46-25T>G (n.46-25T>G)
 dbSNP gnomAD v2 gnomAD v4
16g.3810805G>CCA2631429550CREBBPc.799-26C>G (n.799-26C>G)
n.41-26C>G
c.745-26C>G (n.745-26C>G)
c.46-26C>G (n.46-26C>G)
 gnomAD v4
16g.3810807T>CCA493277684CREBBPc.799-28A>G (n.799-28A>G)
n.41-28A>G
c.745-28A>G (n.745-28A>G)
c.46-28A>G (n.46-28A>G)

Number of alleles fetched