Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3729548G>ACA493394301CREBBPc.5499C>T (p.Cys1833=)
c.5385C>T (p.Cys1795=)
c.5454C>T (p.Cys1818=)
c.5082C>T (p.Cys1694=)
c.5238C>T (p.Cys1746=)
c.5445C>T (p.Cys1815=)
c.4746C>T (p.Cys1582=)
c.5493C>T (p.Cys1831=)
dbSNP
16g.3729548G>CCA394556181CREBBPc.5499C>G (p.Cys1833Trp)
c.5385C>G (p.Cys1795Trp)
c.5454C>G (p.Cys1818Trp)
c.5082C>G (p.Cys1694Trp)
c.5238C>G (p.Cys1746Trp)
c.5445C>G (p.Cys1815Trp)
c.4746C>G (p.Cys1582Trp)
c.5493C>G (p.Cys1831Trp)
dbSNP
16g.3729548G>TCA394556182CREBBPc.5499C>A (p.Cys1833Ter)
c.5385C>A (p.Cys1795Ter)
c.5454C>A (p.Cys1818Ter)
c.5082C>A (p.Cys1694Ter)
c.5238C>A (p.Cys1746Ter)
c.5445C>A (p.Cys1815Ter)
c.4746C>A (p.Cys1582Ter)
c.5493C>A (p.Cys1831Ter)
dbSNP
16g.3729549C>ACA394556183CREBBPc.5498G>T (p.Cys1833Phe)
c.5384G>T (p.Cys1795Phe)
c.5453G>T (p.Cys1818Phe)
c.5081G>T (p.Cys1694Phe)
c.5237G>T (p.Cys1746Phe)
c.5444G>T (p.Cys1815Phe)
c.4745G>T (p.Cys1582Phe)
c.5492G>T (p.Cys1831Phe)
dbSNP
16g.3729549C>GCA394556184CREBBPc.5498G>C (p.Cys1833Ser)
c.5384G>C (p.Cys1795Ser)
c.5453G>C (p.Cys1818Ser)
c.5081G>C (p.Cys1694Ser)
c.5237G>C (p.Cys1746Ser)
c.5444G>C (p.Cys1815Ser)
c.4745G>C (p.Cys1582Ser)
c.5492G>C (p.Cys1831Ser)
dbSNP
16g.3729549C>TCA394556185CREBBPc.5498G>A (p.Cys1833Tyr)
c.5384G>A (p.Cys1795Tyr)
c.5453G>A (p.Cys1818Tyr)
c.5081G>A (p.Cys1694Tyr)
c.5237G>A (p.Cys1746Tyr)
c.5444G>A (p.Cys1815Tyr)
c.4745G>A (p.Cys1582Tyr)
c.5492G>A (p.Cys1831Tyr)
dbSNP
16g.3729550A>CCA394556188CREBBPc.5497T>G (p.Cys1833Gly)
c.5383T>G (p.Cys1795Gly)
c.5452T>G (p.Cys1818Gly)
c.5080T>G (p.Cys1694Gly)
c.5236T>G (p.Cys1746Gly)
c.5443T>G (p.Cys1815Gly)
c.4744T>G (p.Cys1582Gly)
c.5491T>G (p.Cys1831Gly)
16g.3729550A>GCA394556186CREBBPc.5497T>C (p.Cys1833Arg)
c.5383T>C (p.Cys1795Arg)
c.5452T>C (p.Cys1818Arg)
c.5080T>C (p.Cys1694Arg)
c.5236T>C (p.Cys1746Arg)
c.5443T>C (p.Cys1815Arg)
c.4744T>C (p.Cys1582Arg)
c.5491T>C (p.Cys1831Arg)
dbSNP
16g.3729550A>TCA394556187CREBBPc.5497T>A (p.Cys1833Ser)
c.5383T>A (p.Cys1795Ser)
c.5452T>A (p.Cys1818Ser)
c.5080T>A (p.Cys1694Ser)
c.5236T>A (p.Cys1746Ser)
c.5443T>A (p.Cys1815Ser)
c.4744T>A (p.Cys1582Ser)
c.5491T>A (p.Cys1831Ser)
dbSNP
16g.3729551G>ACA493394302CREBBPc.5496C>T (p.His1832=)
c.5382C>T (p.His1794=)
c.5451C>T (p.His1817=)
c.5079C>T (p.His1693=)
c.5235C>T (p.His1745=)
c.5442C>T (p.His1814=)
c.4743C>T (p.His1581=)
c.5490C>T (p.His1830=)
dbSNP
16g.3729551G>CCA394556189CREBBPc.5496C>G (p.His1832Gln)
c.5382C>G (p.His1794Gln)
c.5451C>G (p.His1817Gln)
c.5079C>G (p.His1693Gln)
c.5235C>G (p.His1745Gln)
c.5442C>G (p.His1814Gln)
c.4743C>G (p.His1581Gln)
c.5490C>G (p.His1830Gln)
dbSNP
16g.3729551G>TCA394556190CREBBPc.5496C>A (p.His1832Gln)
c.5382C>A (p.His1794Gln)
c.5451C>A (p.His1817Gln)
c.5079C>A (p.His1693Gln)
c.5235C>A (p.His1745Gln)
c.5442C>A (p.His1814Gln)
c.4743C>A (p.His1581Gln)
c.5490C>A (p.His1830Gln)
16g.3729552T>ACA394556191CREBBPc.5495A>T (p.His1832Leu)
c.5381A>T (p.His1794Leu)
c.5450A>T (p.His1817Leu)
c.5078A>T (p.His1693Leu)
c.5234A>T (p.His1745Leu)
c.5441A>T (p.His1814Leu)
c.4742A>T (p.His1581Leu)
c.5489A>T (p.His1830Leu)
dbSNP
16g.3729552T>CCA394556192CREBBPc.5495A>G (p.His1832Arg)
c.5381A>G (p.His1794Arg)
c.5450A>G (p.His1817Arg)
c.5078A>G (p.His1693Arg)
c.5234A>G (p.His1745Arg)
c.5441A>G (p.His1814Arg)
c.4742A>G (p.His1581Arg)
c.5489A>G (p.His1830Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729552T>GCA394556193CREBBPc.5495A>C (p.His1832Pro)
c.5381A>C (p.His1794Pro)
c.5450A>C (p.His1817Pro)
c.5078A>C (p.His1693Pro)
c.5234A>C (p.His1745Pro)
c.5441A>C (p.His1814Pro)
c.4742A>C (p.His1581Pro)
c.5489A>C (p.His1830Pro)
dbSNP
16g.3729552T=CA2202916446CREBBPc.5495A= (p.His1832=)
c.5381A= (p.His1794=)
c.5450A= (p.His1817=)
c.5078A= (p.His1693=)
c.5234A= (p.His1745=)
c.5441A= (p.His1814=)
c.4742A= (p.His1581=)
c.5489A= (p.His1830=)
16g.3729553G>ACA394556196CREBBPc.5494C>T (p.His1832Tyr)
c.5380C>T (p.His1794Tyr)
c.5449C>T (p.His1817Tyr)
c.5077C>T (p.His1693Tyr)
c.5233C>T (p.His1745Tyr)
c.5440C>T (p.His1814Tyr)
c.4741C>T (p.His1581Tyr)
c.5488C>T (p.His1830Tyr)
dbSNP gnomAD v4
16g.3729553G>CCA394556195CREBBPc.5494C>G (p.His1832Asp)
c.5380C>G (p.His1794Asp)
c.5449C>G (p.His1817Asp)
c.5077C>G (p.His1693Asp)
c.5233C>G (p.His1745Asp)
c.5440C>G (p.His1814Asp)
c.4741C>G (p.His1581Asp)
c.5488C>G (p.His1830Asp)
dbSNP
16g.3729553G>TCA394556194CREBBPc.5494C>A (p.His1832Asn)
c.5380C>A (p.His1794Asn)
c.5449C>A (p.His1817Asn)
c.5077C>A (p.His1693Asn)
c.5233C>A (p.His1745Asn)
c.5440C>A (p.His1814Asn)
c.4741C>A (p.His1581Asn)
c.5488C>A (p.His1830Asn)
16g.3729554C>ACA394556197CREBBPc.5493G>T (p.Lys1831Asn)
c.5379G>T (p.Lys1793Asn)
c.5448G>T (p.Lys1816Asn)
c.5076G>T (p.Lys1692Asn)
c.5232G>T (p.Lys1744Asn)
c.5439G>T (p.Lys1813Asn)
c.4740G>T (p.Lys1580Asn)
c.5487G>T (p.Lys1829Asn)
dbSNP
16g.3729554C>GCA394556198CREBBPc.5493G>C (p.Lys1831Asn)
c.5379G>C (p.Lys1793Asn)
c.5448G>C (p.Lys1816Asn)
c.5076G>C (p.Lys1692Asn)
c.5232G>C (p.Lys1744Asn)
c.5439G>C (p.Lys1813Asn)
c.4740G>C (p.Lys1580Asn)
c.5487G>C (p.Lys1829Asn)
dbSNP
16g.3729554C>TCA493394308CREBBPc.5493G>A (p.Lys1831=)
c.5379G>A (p.Lys1793=)
c.5448G>A (p.Lys1816=)
c.5076G>A (p.Lys1692=)
c.5232G>A (p.Lys1744=)
c.5439G>A (p.Lys1813=)
c.4740G>A (p.Lys1580=)
c.5487G>A (p.Lys1829=)
dbSNP gnomAD v4
16g.3729555T>ACA394556199CREBBPc.5492A>T (p.Lys1831Met)
c.5378A>T (p.Lys1793Met)
c.5447A>T (p.Lys1816Met)
c.5075A>T (p.Lys1692Met)
c.5231A>T (p.Lys1744Met)
c.5438A>T (p.Lys1813Met)
c.4739A>T (p.Lys1580Met)
c.5486A>T (p.Lys1829Met)
dbSNP
16g.3729555T>CCA394556200CREBBPc.5492A>G (p.Lys1831Arg)
c.5378A>G (p.Lys1793Arg)
c.5447A>G (p.Lys1816Arg)
c.5075A>G (p.Lys1692Arg)
c.5231A>G (p.Lys1744Arg)
c.5438A>G (p.Lys1813Arg)
c.4739A>G (p.Lys1580Arg)
c.5486A>G (p.Lys1829Arg)
dbSNP
16g.3729555T>GCA394556201CREBBPc.5492A>C (p.Lys1831Thr)
c.5378A>C (p.Lys1793Thr)
c.5447A>C (p.Lys1816Thr)
c.5075A>C (p.Lys1692Thr)
c.5231A>C (p.Lys1744Thr)
c.5438A>C (p.Lys1813Thr)
c.4739A>C (p.Lys1580Thr)
c.5486A>C (p.Lys1829Thr)
16g.3729556T>ACA394556204CREBBPc.5491A>T (p.Lys1831Ter)
c.5377A>T (p.Lys1793Ter)
c.5446A>T (p.Lys1816Ter)
c.5074A>T (p.Lys1692Ter)
c.5230A>T (p.Lys1744Ter)
c.5437A>T (p.Lys1813Ter)
c.4738A>T (p.Lys1580Ter)
c.5485A>T (p.Lys1829Ter)
16g.3729556T>CCA394556203CREBBPc.5491A>G (p.Lys1831Glu)
c.5377A>G (p.Lys1793Glu)
c.5446A>G (p.Lys1816Glu)
c.5074A>G (p.Lys1692Glu)
c.5230A>G (p.Lys1744Glu)
c.5437A>G (p.Lys1813Glu)
c.4738A>G (p.Lys1580Glu)
c.5485A>G (p.Lys1829Glu)
16g.3729556T>GCA394556202CREBBPc.5491A>C (p.Lys1831Gln)
c.5377A>C (p.Lys1793Gln)
c.5446A>C (p.Lys1816Gln)
c.5074A>C (p.Lys1692Gln)
c.5230A>C (p.Lys1744Gln)
c.5437A>C (p.Lys1813Gln)
c.4738A>C (p.Lys1580Gln)
c.5485A>C (p.Lys1829Gln)
16g.3729557G>ACA493394309CREBBPc.5490C>T (p.Ala1830=)
c.5376C>T (p.Ala1792=)
c.5445C>T (p.Ala1815=)
c.5073C>T (p.Ala1691=)
c.5229C>T (p.Ala1743=)
c.5436C>T (p.Ala1812=)
c.4737C>T (p.Ala1579=)
c.5484C>T (p.Ala1828=)
dbSNP
16g.3729557G>CCA493394310CREBBPc.5490C>G (p.Ala1830=)
c.5376C>G (p.Ala1792=)
c.5445C>G (p.Ala1815=)
c.5073C>G (p.Ala1691=)
c.5229C>G (p.Ala1743=)
c.5436C>G (p.Ala1812=)
c.4737C>G (p.Ala1579=)
c.5484C>G (p.Ala1828=)
dbSNP
16g.3729557G=CA2202916447CREBBPc.5490C= (p.Ala1830=)
c.5376C= (p.Ala1792=)
c.5445C= (p.Ala1815=)
c.5073C= (p.Ala1691=)
c.5229C= (p.Ala1743=)
c.5436C= (p.Ala1812=)
c.4737C= (p.Ala1579=)
c.5484C= (p.Ala1828=)
16g.3729557G>TCA493394311CREBBPc.5490C>A (p.Ala1830=)
c.5376C>A (p.Ala1792=)
c.5445C>A (p.Ala1815=)
c.5073C>A (p.Ala1691=)
c.5229C>A (p.Ala1743=)
c.5436C>A (p.Ala1812=)
c.4737C>A (p.Ala1579=)
c.5484C>A (p.Ala1828=)
dbSNP
16g.3729558G>ACA394556205CREBBPc.5489C>T (p.Ala1830Val)
c.5375C>T (p.Ala1792Val)
c.5444C>T (p.Ala1815Val)
c.5072C>T (p.Ala1691Val)
c.5228C>T (p.Ala1743Val)
c.5435C>T (p.Ala1812Val)
c.4736C>T (p.Ala1579Val)
c.5483C>T (p.Ala1828Val)
dbSNP
16g.3729558G>CCA7869275CREBBPc.5489C>G (p.Ala1830Gly)
c.5375C>G (p.Ala1792Gly)
c.5444C>G (p.Ala1815Gly)
c.5072C>G (p.Ala1691Gly)
c.5228C>G (p.Ala1743Gly)
c.5435C>G (p.Ala1812Gly)
c.4736C>G (p.Ala1579Gly)
c.5483C>G (p.Ala1828Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729558G=CA2202916448CREBBPc.5489C= (p.Ala1830=)
c.5375C= (p.Ala1792=)
c.5444C= (p.Ala1815=)
c.5072C= (p.Ala1691=)
c.5228C= (p.Ala1743=)
c.5435C= (p.Ala1812=)
c.4736C= (p.Ala1579=)
c.5483C= (p.Ala1828=)
16g.3729558G>TCA394556206CREBBPc.5489C>A (p.Ala1830Asp)
c.5375C>A (p.Ala1792Asp)
c.5444C>A (p.Ala1815Asp)
c.5072C>A (p.Ala1691Asp)
c.5228C>A (p.Ala1743Asp)
c.5435C>A (p.Ala1812Asp)
c.4736C>A (p.Ala1579Asp)
c.5483C>A (p.Ala1828Asp)
dbSNP
16g.3729559C>ACA394556207CREBBPc.5488G>T (p.Ala1830Ser)
c.5374G>T (p.Ala1792Ser)
c.5443G>T (p.Ala1815Ser)
c.5071G>T (p.Ala1691Ser)
c.5227G>T (p.Ala1743Ser)
c.5434G>T (p.Ala1812Ser)
c.4735G>T (p.Ala1579Ser)
c.5482G>T (p.Ala1828Ser)
dbSNP
16g.3729559C>GCA394556208CREBBPc.5488G>C (p.Ala1830Pro)
c.5374G>C (p.Ala1792Pro)
c.5443G>C (p.Ala1815Pro)
c.5071G>C (p.Ala1691Pro)
c.5227G>C (p.Ala1743Pro)
c.5434G>C (p.Ala1812Pro)
c.4735G>C (p.Ala1579Pro)
c.5482G>C (p.Ala1828Pro)
dbSNP
16g.3729559C>TCA394556209CREBBPc.5488G>A (p.Ala1830Thr)
c.5374G>A (p.Ala1792Thr)
c.5443G>A (p.Ala1815Thr)
c.5071G>A (p.Ala1691Thr)
c.5227G>A (p.Ala1743Thr)
c.5434G>A (p.Ala1812Thr)
c.4735G>A (p.Ala1579Thr)
c.5482G>A (p.Ala1828Thr)
ClinVar dbSNP
16g.3729560G>ACA7869276CREBBPc.5487C>T (p.His1829=)
c.5373C>T (p.His1791=)
c.5442C>T (p.His1814=)
c.5070C>T (p.His1690=)
c.5226C>T (p.His1742=)
c.5433C>T (p.His1811=)
c.4734C>T (p.His1578=)
c.5481C>T (p.His1827=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729560G>CCA394556211CREBBPc.5487C>G (p.His1829Gln)
c.5373C>G (p.His1791Gln)
c.5442C>G (p.His1814Gln)
c.5070C>G (p.His1690Gln)
c.5226C>G (p.His1742Gln)
c.5433C>G (p.His1811Gln)
c.4734C>G (p.His1578Gln)
c.5481C>G (p.His1827Gln)
dbSNP
16g.3729560G=CA2202916449CREBBPc.5487C= (p.His1829=)
c.5373C= (p.His1791=)
c.5442C= (p.His1814=)
c.5070C= (p.His1690=)
c.5226C= (p.His1742=)
c.5433C= (p.His1811=)
c.4734C= (p.His1578=)
c.5481C= (p.His1827=)
16g.3729560G>TCA394556210CREBBPc.5487C>A (p.His1829Gln)
c.5373C>A (p.His1791Gln)
c.5442C>A (p.His1814Gln)
c.5070C>A (p.His1690Gln)
c.5226C>A (p.His1742Gln)
c.5433C>A (p.His1811Gln)
c.4734C>A (p.His1578Gln)
c.5481C>A (p.His1827Gln)
dbSNP
16g.3729561T>ACA394556212CREBBPc.5486A>T (p.His1829Leu)
c.5372A>T (p.His1791Leu)
c.5441A>T (p.His1814Leu)
c.5069A>T (p.His1690Leu)
c.5225A>T (p.His1742Leu)
c.5432A>T (p.His1811Leu)
c.4733A>T (p.His1578Leu)
c.5480A>T (p.His1827Leu)
16g.3729561T>CCA394556213CREBBPc.5486A>G (p.His1829Arg)
c.5372A>G (p.His1791Arg)
c.5441A>G (p.His1814Arg)
c.5069A>G (p.His1690Arg)
c.5225A>G (p.His1742Arg)
c.5432A>G (p.His1811Arg)
c.4733A>G (p.His1578Arg)
c.5480A>G (p.His1827Arg)
16g.3729561T>GCA394556214CREBBPc.5486A>C (p.His1829Pro)
c.5372A>C (p.His1791Pro)
c.5441A>C (p.His1814Pro)
c.5069A>C (p.His1690Pro)
c.5225A>C (p.His1742Pro)
c.5432A>C (p.His1811Pro)
c.4733A>C (p.His1578Pro)
c.5480A>C (p.His1827Pro)
16g.3729562G>ACA394556215CREBBPc.5485C>T (p.His1829Tyr)
c.5371C>T (p.His1791Tyr)
c.5440C>T (p.His1814Tyr)
c.5068C>T (p.His1690Tyr)
c.5224C>T (p.His1742Tyr)
c.5431C>T (p.His1811Tyr)
c.4732C>T (p.His1578Tyr)
c.5479C>T (p.His1827Tyr)
dbSNP
16g.3729562G>CCA394556216CREBBPc.5485C>G (p.His1829Asp)
c.5371C>G (p.His1791Asp)
c.5440C>G (p.His1814Asp)
c.5068C>G (p.His1690Asp)
c.5224C>G (p.His1742Asp)
c.5431C>G (p.His1811Asp)
c.4732C>G (p.His1578Asp)
c.5479C>G (p.His1827Asp)
16g.3729562G>TCA394556217CREBBPc.5485C>A (p.His1829Asn)
c.5371C>A (p.His1791Asn)
c.5440C>A (p.His1814Asn)
c.5068C>A (p.His1690Asn)
c.5224C>A (p.His1742Asn)
c.5431C>A (p.His1811Asn)
c.4732C>A (p.His1578Asn)
c.5479C>A (p.His1827Asn)
dbSNP
16g.3729562_3729565delinsGGTACA2202916450CREBBPc.5482_5485delinsTACC (p.Tyr1828=)
c.5368_5371delinsTACC (p.Tyr1790=)
c.5437_5440delinsTACC (p.Tyr1813=)
c.5065_5068delinsTACC (p.Tyr1689=)
c.5221_5224delinsTACC (p.Tyr1741=)
c.5428_5431delinsTACC (p.Tyr1810=)
c.4729_4732delinsTACC (p.Tyr1577=)
c.5476_5479delinsTACC (p.Tyr1826=)
16g.3729563G>ACA493394320CREBBPc.5484C>T (p.Tyr1828=)
c.5370C>T (p.Tyr1790=)
c.5439C>T (p.Tyr1813=)
c.5067C>T (p.Tyr1689=)
c.5223C>T (p.Tyr1741=)
c.5430C>T (p.Tyr1810=)
c.4731C>T (p.Tyr1577=)
c.5478C>T (p.Tyr1826=)
16g.3729563G>CCA394556218CREBBPc.5484C>G (p.Tyr1828Ter)
c.5370C>G (p.Tyr1790Ter)
c.5439C>G (p.Tyr1813Ter)
c.5067C>G (p.Tyr1689Ter)
c.5223C>G (p.Tyr1741Ter)
c.5430C>G (p.Tyr1810Ter)
c.4731C>G (p.Tyr1577Ter)
c.5478C>G (p.Tyr1826Ter)
16g.3729563G>TCA394556219CREBBPc.5484C>A (p.Tyr1828Ter)
c.5370C>A (p.Tyr1790Ter)
c.5439C>A (p.Tyr1813Ter)
c.5067C>A (p.Tyr1689Ter)
c.5223C>A (p.Tyr1741Ter)
c.5430C>A (p.Tyr1810Ter)
c.4731C>A (p.Tyr1577Ter)
c.5478C>A (p.Tyr1826Ter)
16g.3729564_3729566delCA915949069CREBBPc.5482_5484del (p.Tyr1828del)
c.5368_5370del (p.Tyr1790del)
c.5437_5439del (p.Tyr1813del)
c.5065_5067del (p.Tyr1689del)
c.5221_5223del (p.Tyr1741del)
c.5428_5430del (p.Tyr1810del)
c.4729_4731del (p.Tyr1577del)
c.5476_5478del (p.Tyr1826del)
ClinVar dbSNP
16g.3729564T>ACA394556220CREBBPc.5483A>T (p.Tyr1828Phe)
c.5369A>T (p.Tyr1790Phe)
c.5438A>T (p.Tyr1813Phe)
c.5066A>T (p.Tyr1689Phe)
c.5222A>T (p.Tyr1741Phe)
c.5429A>T (p.Tyr1810Phe)
c.4730A>T (p.Tyr1577Phe)
c.5477A>T (p.Tyr1826Phe)
16g.3729564T>CCA394556221CREBBPc.5483A>G (p.Tyr1828Cys)
c.5369A>G (p.Tyr1790Cys)
c.5438A>G (p.Tyr1813Cys)
c.5066A>G (p.Tyr1689Cys)
c.5222A>G (p.Tyr1741Cys)
c.5429A>G (p.Tyr1810Cys)
c.4730A>G (p.Tyr1577Cys)
c.5477A>G (p.Tyr1826Cys)
16g.3729564T>GCA394556222CREBBPc.5483A>C (p.Tyr1828Ser)
c.5369A>C (p.Tyr1790Ser)
c.5438A>C (p.Tyr1813Ser)
c.5066A>C (p.Tyr1689Ser)
c.5222A>C (p.Tyr1741Ser)
c.5429A>C (p.Tyr1810Ser)
c.4730A>C (p.Tyr1577Ser)
c.5477A>C (p.Tyr1826Ser)
16g.3729565A>CCA394556225CREBBPc.5482T>G (p.Tyr1828Asp)
c.5368T>G (p.Tyr1790Asp)
c.5437T>G (p.Tyr1813Asp)
c.5065T>G (p.Tyr1689Asp)
c.5221T>G (p.Tyr1741Asp)
c.5428T>G (p.Tyr1810Asp)
c.4729T>G (p.Tyr1577Asp)
c.5476T>G (p.Tyr1826Asp)
16g.3729565A>GCA394556224CREBBPc.5482T>C (p.Tyr1828His)
c.5368T>C (p.Tyr1790His)
c.5437T>C (p.Tyr1813His)
c.5065T>C (p.Tyr1689His)
c.5221T>C (p.Tyr1741His)
c.5428T>C (p.Tyr1810His)
c.4729T>C (p.Tyr1577His)
c.5476T>C (p.Tyr1826His)
dbSNP
16g.3729565A>TCA394556223CREBBPc.5482T>A (p.Tyr1828Asn)
c.5368T>A (p.Tyr1790Asn)
c.5437T>A (p.Tyr1813Asn)
c.5065T>A (p.Tyr1689Asn)
c.5221T>A (p.Tyr1741Asn)
c.5428T>A (p.Tyr1810Asn)
c.4729T>A (p.Tyr1577Asn)
c.5476T>A (p.Tyr1826Asn)
dbSNP
16g.3729566G>ACA493394322CREBBPc.5481C>T (p.Cys1827=)
c.5367C>T (p.Cys1789=)
c.5436C>T (p.Cys1812=)
c.5064C>T (p.Cys1688=)
c.5220C>T (p.Cys1740=)
c.5427C>T (p.Cys1809=)
c.4728C>T (p.Cys1576=)
c.5475C>T (p.Cys1825=)
dbSNP gnomAD v4
16g.3729566G>CCA394556226CREBBPc.5481C>G (p.Cys1827Trp)
c.5367C>G (p.Cys1789Trp)
c.5436C>G (p.Cys1812Trp)
c.5064C>G (p.Cys1688Trp)
c.5220C>G (p.Cys1740Trp)
c.5427C>G (p.Cys1809Trp)
c.4728C>G (p.Cys1576Trp)
c.5475C>G (p.Cys1825Trp)
dbSNP
16g.3729566G>TCA394556227CREBBPc.5481C>A (p.Cys1827Ter)
c.5367C>A (p.Cys1789Ter)
c.5436C>A (p.Cys1812Ter)
c.5064C>A (p.Cys1688Ter)
c.5220C>A (p.Cys1740Ter)
c.5427C>A (p.Cys1809Ter)
c.4728C>A (p.Cys1576Ter)
c.5475C>A (p.Cys1825Ter)
dbSNP
16g.3729567C>ACA394556228CREBBPc.5480G>T (p.Cys1827Phe)
c.5366G>T (p.Cys1789Phe)
c.5435G>T (p.Cys1812Phe)
c.5063G>T (p.Cys1688Phe)
c.5219G>T (p.Cys1740Phe)
c.5426G>T (p.Cys1809Phe)
c.4727G>T (p.Cys1576Phe)
c.5474G>T (p.Cys1825Phe)
dbSNP
16g.3729567C>GCA394556229CREBBPc.5480G>C (p.Cys1827Ser)
c.5366G>C (p.Cys1789Ser)
c.5435G>C (p.Cys1812Ser)
c.5063G>C (p.Cys1688Ser)
c.5219G>C (p.Cys1740Ser)
c.5426G>C (p.Cys1809Ser)
c.4727G>C (p.Cys1576Ser)
c.5474G>C (p.Cys1825Ser)
dbSNP
16g.3729567C>TCA394556230CREBBPc.5480G>A (p.Cys1827Tyr)
c.5366G>A (p.Cys1789Tyr)
c.5435G>A (p.Cys1812Tyr)
c.5063G>A (p.Cys1688Tyr)
c.5219G>A (p.Cys1740Tyr)
c.5426G>A (p.Cys1809Tyr)
c.4727G>A (p.Cys1576Tyr)
c.5474G>A (p.Cys1825Tyr)
dbSNP gnomAD v4
16g.3729568A=CA2202916451CREBBPc.5479T= (p.Cys1827=)
c.5365T= (p.Cys1789=)
c.5434T= (p.Cys1812=)
c.5062T= (p.Cys1688=)
c.5218T= (p.Cys1740=)
c.5425T= (p.Cys1809=)
c.4726T= (p.Cys1576=)
c.5473T= (p.Cys1825=)
16g.3729568A>CCA394556231CREBBPc.5479T>G (p.Cys1827Gly)
c.5365T>G (p.Cys1789Gly)
c.5434T>G (p.Cys1812Gly)
c.5062T>G (p.Cys1688Gly)
c.5218T>G (p.Cys1740Gly)
c.5425T>G (p.Cys1809Gly)
c.4726T>G (p.Cys1576Gly)
c.5473T>G (p.Cys1825Gly)
16g.3729568A>GCA394556232CREBBPc.5479T>C (p.Cys1827Arg)
c.5365T>C (p.Cys1789Arg)
c.5434T>C (p.Cys1812Arg)
c.5062T>C (p.Cys1688Arg)
c.5218T>C (p.Cys1740Arg)
c.5425T>C (p.Cys1809Arg)
c.4726T>C (p.Cys1576Arg)
c.5473T>C (p.Cys1825Arg)
dbSNP
16g.3729568A>TCA394556233CREBBPc.5479T>A (p.Cys1827Ser)
c.5365T>A (p.Cys1789Ser)
c.5434T>A (p.Cys1812Ser)
c.5062T>A (p.Cys1688Ser)
c.5218T>A (p.Cys1740Ser)
c.5425T>A (p.Cys1809Ser)
c.4726T>A (p.Cys1576Ser)
c.5473T>A (p.Cys1825Ser)
dbSNP
16g.3729569G>ACA493394327CREBBPc.5478C>T (p.Cys1826=)
c.5364C>T (p.Cys1788=)
c.5433C>T (p.Cys1811=)
c.5061C>T (p.Cys1687=)
c.5217C>T (p.Cys1739=)
c.5424C>T (p.Cys1808=)
c.4725C>T (p.Cys1575=)
c.5472C>T (p.Cys1824=)
dbSNP
16g.3729569G>CCA394556234CREBBPc.5478C>G (p.Cys1826Trp)
c.5364C>G (p.Cys1788Trp)
c.5433C>G (p.Cys1811Trp)
c.5061C>G (p.Cys1687Trp)
c.5217C>G (p.Cys1739Trp)
c.5424C>G (p.Cys1808Trp)
c.4725C>G (p.Cys1575Trp)
c.5472C>G (p.Cys1824Trp)
dbSNP
16g.3729569G>TCA394556235CREBBPc.5478C>A (p.Cys1826Ter)
c.5364C>A (p.Cys1788Ter)
c.5433C>A (p.Cys1811Ter)
c.5061C>A (p.Cys1687Ter)
c.5217C>A (p.Cys1739Ter)
c.5424C>A (p.Cys1808Ter)
c.4725C>A (p.Cys1575Ter)
c.5472C>A (p.Cys1824Ter)
16g.3729570C>ACA394556236CREBBPc.5477G>T (p.Cys1826Phe)
c.5363G>T (p.Cys1788Phe)
c.5432G>T (p.Cys1811Phe)
c.5060G>T (p.Cys1687Phe)
c.5216G>T (p.Cys1739Phe)
c.5423G>T (p.Cys1808Phe)
c.4724G>T (p.Cys1575Phe)
c.5471G>T (p.Cys1824Phe)
16g.3729570C=CA2202916452CREBBPc.5477G= (p.Cys1826=)
c.5363G= (p.Cys1788=)
c.5432G= (p.Cys1811=)
c.5060G= (p.Cys1687=)
c.5216G= (p.Cys1739=)
c.5423G= (p.Cys1808=)
c.4724G= (p.Cys1575=)
c.5471G= (p.Cys1824=)
16g.3729570C>GCA394556237CREBBPc.5477G>C (p.Cys1826Ser)
c.5363G>C (p.Cys1788Ser)
c.5432G>C (p.Cys1811Ser)
c.5060G>C (p.Cys1687Ser)
c.5216G>C (p.Cys1739Ser)
c.5423G>C (p.Cys1808Ser)
c.4724G>C (p.Cys1575Ser)
c.5471G>C (p.Cys1824Ser)
dbSNP
16g.3729570C>TCA394556238CREBBPc.5477G>A (p.Cys1826Tyr)
c.5363G>A (p.Cys1788Tyr)
c.5432G>A (p.Cys1811Tyr)
c.5060G>A (p.Cys1687Tyr)
c.5216G>A (p.Cys1739Tyr)
c.5423G>A (p.Cys1808Tyr)
c.4724G>A (p.Cys1575Tyr)
c.5471G>A (p.Cys1824Tyr)
16g.3729571A=CA2202916453CREBBPc.5476T= (p.Cys1826=)
c.5362T= (p.Cys1788=)
c.5431T= (p.Cys1811=)
c.5059T= (p.Cys1687=)
c.5215T= (p.Cys1739=)
c.5422T= (p.Cys1808=)
c.4723T= (p.Cys1575=)
c.5470T= (p.Cys1824=)
16g.3729571A>CCA394556239CREBBPc.5476T>G (p.Cys1826Gly)
c.5362T>G (p.Cys1788Gly)
c.5431T>G (p.Cys1811Gly)
c.5059T>G (p.Cys1687Gly)
c.5215T>G (p.Cys1739Gly)
c.5422T>G (p.Cys1808Gly)
c.4723T>G (p.Cys1575Gly)
c.5470T>G (p.Cys1824Gly)
dbSNP
16g.3729571A>GCA394556240CREBBPc.5476T>C (p.Cys1826Arg)
c.5362T>C (p.Cys1788Arg)
c.5431T>C (p.Cys1811Arg)
c.5059T>C (p.Cys1687Arg)
c.5215T>C (p.Cys1739Arg)
c.5422T>C (p.Cys1808Arg)
c.4723T>C (p.Cys1575Arg)
c.5470T>C (p.Cys1824Arg)
16g.3729571A>TCA394556241CREBBPc.5476T>A (p.Cys1826Ser)
c.5362T>A (p.Cys1788Ser)
c.5431T>A (p.Cys1811Ser)
c.5059T>A (p.Cys1687Ser)
c.5215T>A (p.Cys1739Ser)
c.5422T>A (p.Cys1808Ser)
c.4723T>A (p.Cys1575Ser)
c.5470T>A (p.Cys1824Ser)
16g.3729572G>ACA493394330CREBBPc.5475C>T (p.Leu1825=)
c.5361C>T (p.Leu1787=)
c.5430C>T (p.Leu1810=)
c.5058C>T (p.Leu1686=)
c.5214C>T (p.Leu1738=)
c.5421C>T (p.Leu1807=)
c.4722C>T (p.Leu1574=)
c.5469C>T (p.Leu1823=)
dbSNP gnomAD v4
16g.3729572G>CCA493394331CREBBPc.5475C>G (p.Leu1825=)
c.5361C>G (p.Leu1787=)
c.5430C>G (p.Leu1810=)
c.5058C>G (p.Leu1686=)
c.5214C>G (p.Leu1738=)
c.5421C>G (p.Leu1807=)
c.4722C>G (p.Leu1574=)
c.5469C>G (p.Leu1823=)
dbSNP gnomAD v4 COSMIC
16g.3729572G>TCA493394332CREBBPc.5475C>A (p.Leu1825=)
c.5361C>A (p.Leu1787=)
c.5430C>A (p.Leu1810=)
c.5058C>A (p.Leu1686=)
c.5214C>A (p.Leu1738=)
c.5421C>A (p.Leu1807=)
c.4722C>A (p.Leu1574=)
c.5469C>A (p.Leu1823=)
16g.3729573A=CA2202916454CREBBPc.5474T= (p.Leu1825=)
c.5360T= (p.Leu1787=)
c.5429T= (p.Leu1810=)
c.5057T= (p.Leu1686=)
c.5213T= (p.Leu1738=)
c.5420T= (p.Leu1807=)
c.4721T= (p.Leu1574=)
c.5468T= (p.Leu1823=)
16g.3729573A>CCA394556242CREBBPc.5474T>G (p.Leu1825Arg)
c.5360T>G (p.Leu1787Arg)
c.5429T>G (p.Leu1810Arg)
c.5057T>G (p.Leu1686Arg)
c.5213T>G (p.Leu1738Arg)
c.5420T>G (p.Leu1807Arg)
c.4721T>G (p.Leu1574Arg)
c.5468T>G (p.Leu1823Arg)
dbSNP gnomAD v2 gnomAD v4
16g.3729573A>GCA394556244CREBBPc.5474T>C (p.Leu1825Pro)
c.5360T>C (p.Leu1787Pro)
c.5429T>C (p.Leu1810Pro)
c.5057T>C (p.Leu1686Pro)
c.5213T>C (p.Leu1738Pro)
c.5420T>C (p.Leu1807Pro)
c.4721T>C (p.Leu1574Pro)
c.5468T>C (p.Leu1823Pro)
dbSNP
16g.3729573A>TCA394556243CREBBPc.5474T>A (p.Leu1825His)
c.5360T>A (p.Leu1787His)
c.5429T>A (p.Leu1810His)
c.5057T>A (p.Leu1686His)
c.5213T>A (p.Leu1738His)
c.5420T>A (p.Leu1807His)
c.4721T>A (p.Leu1574His)
c.5468T>A (p.Leu1823His)
dbSNP
16g.3729574G>ACA394556245CREBBPc.5473C>T (p.Leu1825Phe)
c.5359C>T (p.Leu1787Phe)
c.5428C>T (p.Leu1810Phe)
c.5056C>T (p.Leu1686Phe)
c.5212C>T (p.Leu1738Phe)
c.5419C>T (p.Leu1807Phe)
c.4720C>T (p.Leu1574Phe)
c.5467C>T (p.Leu1823Phe)
dbSNP gnomAD v4
16g.3729574G>CCA394556246CREBBPc.5473C>G (p.Leu1825Val)
c.5359C>G (p.Leu1787Val)
c.5428C>G (p.Leu1810Val)
c.5056C>G (p.Leu1686Val)
c.5212C>G (p.Leu1738Val)
c.5419C>G (p.Leu1807Val)
c.4720C>G (p.Leu1574Val)
c.5467C>G (p.Leu1823Val)
dbSNP
16g.3729574G>TCA394556247CREBBPc.5473C>A (p.Leu1825Ile)
c.5359C>A (p.Leu1787Ile)
c.5428C>A (p.Leu1810Ile)
c.5056C>A (p.Leu1686Ile)
c.5212C>A (p.Leu1738Ile)
c.5419C>A (p.Leu1807Ile)
c.4720C>A (p.Leu1574Ile)
c.5467C>A (p.Leu1823Ile)
dbSNP
16g.3729575G>ACA276972226CREBBPc.5472C>T (p.Ala1824=)
c.5358C>T (p.Ala1786=)
c.5427C>T (p.Ala1809=)
c.5055C>T (p.Ala1685=)
c.5211C>T (p.Ala1737=)
c.5418C>T (p.Ala1806=)
c.4719C>T (p.Ala1573=)
c.5466C>T (p.Ala1822=)
dbSNP gnomAD v2 gnomAD v4
16g.3729575G>CCA493394339CREBBPc.5472C>G (p.Ala1824=)
c.5358C>G (p.Ala1786=)
c.5427C>G (p.Ala1809=)
c.5055C>G (p.Ala1685=)
c.5211C>G (p.Ala1737=)
c.5418C>G (p.Ala1806=)
c.4719C>G (p.Ala1573=)
c.5466C>G (p.Ala1822=)
dbSNP gnomAD v4
16g.3729575G=CA2202916455CREBBPc.5472C= (p.Ala1824=)
c.5358C= (p.Ala1786=)
c.5427C= (p.Ala1809=)
c.5055C= (p.Ala1685=)
c.5211C= (p.Ala1737=)
c.5418C= (p.Ala1806=)
c.4719C= (p.Ala1573=)
c.5466C= (p.Ala1822=)
16g.3729575G>TCA493394340CREBBPc.5472C>A (p.Ala1824=)
c.5358C>A (p.Ala1786=)
c.5427C>A (p.Ala1809=)
c.5055C>A (p.Ala1685=)
c.5211C>A (p.Ala1737=)
c.5418C>A (p.Ala1806=)
c.4719C>A (p.Ala1573=)
c.5466C>A (p.Ala1822=)
16g.3729576G>ACA394556248CREBBPc.5471C>T (p.Ala1824Val)
c.5357C>T (p.Ala1786Val)
c.5426C>T (p.Ala1809Val)
c.5054C>T (p.Ala1685Val)
c.5210C>T (p.Ala1737Val)
c.5417C>T (p.Ala1806Val)
c.4718C>T (p.Ala1573Val)
c.5465C>T (p.Ala1822Val)
dbSNP
16g.3729576G>CCA394556249CREBBPc.5471C>G (p.Ala1824Gly)
c.5357C>G (p.Ala1786Gly)
c.5426C>G (p.Ala1809Gly)
c.5054C>G (p.Ala1685Gly)
c.5210C>G (p.Ala1737Gly)
c.5417C>G (p.Ala1806Gly)
c.4718C>G (p.Ala1573Gly)
c.5465C>G (p.Ala1822Gly)
dbSNP
16g.3729576G>TCA394556250CREBBPc.5471C>A (p.Ala1824Asp)
c.5357C>A (p.Ala1786Asp)
c.5426C>A (p.Ala1809Asp)
c.5054C>A (p.Ala1685Asp)
c.5210C>A (p.Ala1737Asp)
c.5417C>A (p.Ala1806Asp)
c.4718C>A (p.Ala1573Asp)
c.5465C>A (p.Ala1822Asp)
16g.3729577C>ACA394556251CREBBPc.5470G>T (p.Ala1824Ser)
c.5356G>T (p.Ala1786Ser)
c.5425G>T (p.Ala1809Ser)
c.5053G>T (p.Ala1685Ser)
c.5209G>T (p.Ala1737Ser)
c.5416G>T (p.Ala1806Ser)
c.4717G>T (p.Ala1573Ser)
c.5464G>T (p.Ala1822Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729577C=CA2202916456CREBBPc.5470G= (p.Ala1824=)
c.5356G= (p.Ala1786=)
c.5425G= (p.Ala1809=)
c.5053G= (p.Ala1685=)
c.5209G= (p.Ala1737=)
c.5416G= (p.Ala1806=)
c.4717G= (p.Ala1573=)
c.5464G= (p.Ala1822=)
16g.3729577C>GCA394556252CREBBPc.5470G>C (p.Ala1824Pro)
c.5356G>C (p.Ala1786Pro)
c.5425G>C (p.Ala1809Pro)
c.5053G>C (p.Ala1685Pro)
c.5209G>C (p.Ala1737Pro)
c.5416G>C (p.Ala1806Pro)
c.4717G>C (p.Ala1573Pro)
c.5464G>C (p.Ala1822Pro)
dbSNP
16g.3729577C>TCA394556253CREBBPc.5470G>A (p.Ala1824Thr)
c.5356G>A (p.Ala1786Thr)
c.5425G>A (p.Ala1809Thr)
c.5053G>A (p.Ala1685Thr)
c.5209G>A (p.Ala1737Thr)
c.5416G>A (p.Ala1806Thr)
c.4717G>A (p.Ala1573Thr)
c.5464G>A (p.Ala1822Thr)
dbSNP gnomAD v4 COSMIC
16g.3729578G>ACA7869277CREBBPc.5469C>T (p.Ile1823=)
c.5355C>T (p.Ile1785=)
c.5424C>T (p.Ile1808=)
c.5052C>T (p.Ile1684=)
c.5208C>T (p.Ile1736=)
c.5415C>T (p.Ile1805=)
c.4716C>T (p.Ile1572=)
c.5463C>T (p.Ile1821=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729578G>CCA394556254CREBBPc.5469C>G (p.Ile1823Met)
c.5355C>G (p.Ile1785Met)
c.5424C>G (p.Ile1808Met)
c.5052C>G (p.Ile1684Met)
c.5208C>G (p.Ile1736Met)
c.5415C>G (p.Ile1805Met)
c.4716C>G (p.Ile1572Met)
c.5463C>G (p.Ile1821Met)
dbSNP
16g.3729578G=CA2202916457CREBBPc.5469C= (p.Ile1823=)
c.5355C= (p.Ile1785=)
c.5424C= (p.Ile1808=)
c.5052C= (p.Ile1684=)
c.5208C= (p.Ile1736=)
c.5415C= (p.Ile1805=)
c.4716C= (p.Ile1572=)
c.5463C= (p.Ile1821=)
16g.3729578G>TCA493394344CREBBPc.5469C>A (p.Ile1823=)
c.5355C>A (p.Ile1785=)
c.5424C>A (p.Ile1808=)
c.5052C>A (p.Ile1684=)
c.5208C>A (p.Ile1736=)
c.5415C>A (p.Ile1805=)
c.4716C>A (p.Ile1572=)
c.5463C>A (p.Ile1821=)
16g.3729579A>CCA394556255CREBBPc.5468T>G (p.Ile1823Ser)
c.5354T>G (p.Ile1785Ser)
c.5423T>G (p.Ile1808Ser)
c.5051T>G (p.Ile1684Ser)
c.5207T>G (p.Ile1736Ser)
c.5414T>G (p.Ile1805Ser)
c.4715T>G (p.Ile1572Ser)
c.5462T>G (p.Ile1821Ser)
dbSNP
16g.3729579A>GCA394556257CREBBPc.5468T>C (p.Ile1823Thr)
c.5354T>C (p.Ile1785Thr)
c.5423T>C (p.Ile1808Thr)
c.5051T>C (p.Ile1684Thr)
c.5207T>C (p.Ile1736Thr)
c.5414T>C (p.Ile1805Thr)
c.4715T>C (p.Ile1572Thr)
c.5462T>C (p.Ile1821Thr)
dbSNP
16g.3729579A>TCA394556256CREBBPc.5468T>A (p.Ile1823Asn)
c.5354T>A (p.Ile1785Asn)
c.5423T>A (p.Ile1808Asn)
c.5051T>A (p.Ile1684Asn)
c.5207T>A (p.Ile1736Asn)
c.5414T>A (p.Ile1805Asn)
c.4715T>A (p.Ile1572Asn)
c.5462T>A (p.Ile1821Asn)
dbSNP
16g.3729580T>ACA394556258CREBBPc.5467A>T (p.Ile1823Phe)
c.5353A>T (p.Ile1785Phe)
c.5422A>T (p.Ile1808Phe)
c.5050A>T (p.Ile1684Phe)
c.5206A>T (p.Ile1736Phe)
c.5413A>T (p.Ile1805Phe)
c.4714A>T (p.Ile1572Phe)
c.5461A>T (p.Ile1821Phe)
ClinVar dbSNP
16g.3729580T>CCA394556259CREBBPc.5467A>G (p.Ile1823Val)
c.5353A>G (p.Ile1785Val)
c.5422A>G (p.Ile1808Val)
c.5050A>G (p.Ile1684Val)
c.5206A>G (p.Ile1736Val)
c.5413A>G (p.Ile1805Val)
c.4714A>G (p.Ile1572Val)
c.5461A>G (p.Ile1821Val)
16g.3729580T>GCA394556261CREBBPc.5467A>C (p.Ile1823Leu)
c.5353A>C (p.Ile1785Leu)
c.5422A>C (p.Ile1808Leu)
c.5050A>C (p.Ile1684Leu)
c.5206A>C (p.Ile1736Leu)
c.5413A>C (p.Ile1805Leu)
c.4714A>C (p.Ile1572Leu)
c.5461A>C (p.Ile1821Leu)
dbSNP
16g.3729581G>ACA493394346CREBBPc.5466C>T (p.Leu1822=)
c.5352C>T (p.Leu1784=)
c.5421C>T (p.Leu1807=)
c.5049C>T (p.Leu1683=)
c.5205C>T (p.Leu1735=)
c.5412C>T (p.Leu1804=)
c.4713C>T (p.Leu1571=)
c.5460C>T (p.Leu1820=)
dbSNP gnomAD v4
16g.3729581G>CCA493394347CREBBPc.5466C>G (p.Leu1822=)
c.5352C>G (p.Leu1784=)
c.5421C>G (p.Leu1807=)
c.5049C>G (p.Leu1683=)
c.5205C>G (p.Leu1735=)
c.5412C>G (p.Leu1804=)
c.4713C>G (p.Leu1571=)
c.5460C>G (p.Leu1820=)
dbSNP gnomAD v4
16g.3729581G>TCA493394348CREBBPc.5466C>A (p.Leu1822=)
c.5352C>A (p.Leu1784=)
c.5421C>A (p.Leu1807=)
c.5049C>A (p.Leu1683=)
c.5205C>A (p.Leu1735=)
c.5412C>A (p.Leu1804=)
c.4713C>A (p.Leu1571=)
c.5460C>A (p.Leu1820=)
16g.3729582A>CCA394556263CREBBPc.5465T>G (p.Leu1822Arg)
c.5351T>G (p.Leu1784Arg)
c.5420T>G (p.Leu1807Arg)
c.5048T>G (p.Leu1683Arg)
c.5204T>G (p.Leu1735Arg)
c.5411T>G (p.Leu1804Arg)
c.4712T>G (p.Leu1571Arg)
c.5459T>G (p.Leu1820Arg)
dbSNP
16g.3729582A>GCA394556265CREBBPc.5465T>C (p.Leu1822Pro)
c.5351T>C (p.Leu1784Pro)
c.5420T>C (p.Leu1807Pro)
c.5048T>C (p.Leu1683Pro)
c.5204T>C (p.Leu1735Pro)
c.5411T>C (p.Leu1804Pro)
c.4712T>C (p.Leu1571Pro)
c.5459T>C (p.Leu1820Pro)
dbSNP
16g.3729582A>TCA394556266CREBBPc.5465T>A (p.Leu1822His)
c.5351T>A (p.Leu1784His)
c.5420T>A (p.Leu1807His)
c.5048T>A (p.Leu1683His)
c.5204T>A (p.Leu1735His)
c.5411T>A (p.Leu1804His)
c.4712T>A (p.Leu1571His)
c.5459T>A (p.Leu1820His)
dbSNP
16g.3729583G>ACA394556272CREBBPc.5464C>T (p.Leu1822Phe)
c.5350C>T (p.Leu1784Phe)
c.5419C>T (p.Leu1807Phe)
c.5047C>T (p.Leu1683Phe)
c.5203C>T (p.Leu1735Phe)
c.5410C>T (p.Leu1804Phe)
c.4711C>T (p.Leu1571Phe)
c.5458C>T (p.Leu1820Phe)
dbSNP
16g.3729583G>CCA394556269CREBBPc.5464C>G (p.Leu1822Val)
c.5350C>G (p.Leu1784Val)
c.5419C>G (p.Leu1807Val)
c.5047C>G (p.Leu1683Val)
c.5203C>G (p.Leu1735Val)
c.5410C>G (p.Leu1804Val)
c.4711C>G (p.Leu1571Val)
c.5458C>G (p.Leu1820Val)
dbSNP
16g.3729583G>TCA394556271CREBBPc.5464C>A (p.Leu1822Ile)
c.5350C>A (p.Leu1784Ile)
c.5419C>A (p.Leu1807Ile)
c.5047C>A (p.Leu1683Ile)
c.5203C>A (p.Leu1735Ile)
c.5410C>A (p.Leu1804Ile)
c.4711C>A (p.Leu1571Ile)
c.5458C>A (p.Leu1820Ile)
dbSNP
16g.3729584C>ACA394556275CREBBPc.5463G>T (p.Gln1821His)
c.5349G>T (p.Gln1783His)
c.5418G>T (p.Gln1806His)
c.5046G>T (p.Gln1682His)
c.5202G>T (p.Gln1734His)
c.5409G>T (p.Gln1803His)
c.4710G>T (p.Gln1570His)
c.5457G>T (p.Gln1819His)
dbSNP
16g.3729584C>GCA394556277CREBBPc.5463G>C (p.Gln1821His)
c.5349G>C (p.Gln1783His)
c.5418G>C (p.Gln1806His)
c.5046G>C (p.Gln1682His)
c.5202G>C (p.Gln1734His)
c.5409G>C (p.Gln1803His)
c.4710G>C (p.Gln1570His)
c.5457G>C (p.Gln1819His)
dbSNP
16g.3729584C>TCA493394352CREBBPc.5463G>A (p.Gln1821=)
c.5349G>A (p.Gln1783=)
c.5418G>A (p.Gln1806=)
c.5046G>A (p.Gln1682=)
c.5202G>A (p.Gln1734=)
c.5409G>A (p.Gln1803=)
c.4710G>A (p.Gln1570=)
c.5457G>A (p.Gln1819=)
dbSNP gnomAD v4
16g.3729585T>ACA394556279CREBBPc.5462A>T (p.Gln1821Leu)
c.5348A>T (p.Gln1783Leu)
c.5417A>T (p.Gln1806Leu)
c.5045A>T (p.Gln1682Leu)
c.5201A>T (p.Gln1734Leu)
c.5408A>T (p.Gln1803Leu)
c.4709A>T (p.Gln1570Leu)
c.5456A>T (p.Gln1819Leu)
dbSNP
16g.3729585T>CCA394556281CREBBPc.5462A>G (p.Gln1821Arg)
c.5348A>G (p.Gln1783Arg)
c.5417A>G (p.Gln1806Arg)
c.5045A>G (p.Gln1682Arg)
c.5201A>G (p.Gln1734Arg)
c.5408A>G (p.Gln1803Arg)
c.4709A>G (p.Gln1570Arg)
c.5456A>G (p.Gln1819Arg)
ClinVar dbSNP
16g.3729585T>GCA394556283CREBBPc.5462A>C (p.Gln1821Pro)
c.5348A>C (p.Gln1783Pro)
c.5417A>C (p.Gln1806Pro)
c.5045A>C (p.Gln1682Pro)
c.5201A>C (p.Gln1734Pro)
c.5408A>C (p.Gln1803Pro)
c.4709A>C (p.Gln1570Pro)
c.5456A>C (p.Gln1819Pro)
dbSNP gnomAD v2 gnomAD v4
16g.3729585T=CA2202916458CREBBPc.5462A= (p.Gln1821=)
c.5348A= (p.Gln1783=)
c.5417A= (p.Gln1806=)
c.5045A= (p.Gln1682=)
c.5201A= (p.Gln1734=)
c.5408A= (p.Gln1803=)
c.4709A= (p.Gln1570=)
c.5456A= (p.Gln1819=)
16g.3729586G>ACA394556284CREBBPc.5461C>T (p.Gln1821Ter)
c.5347C>T (p.Gln1783Ter)
c.5416C>T (p.Gln1806Ter)
c.5044C>T (p.Gln1682Ter)
c.5200C>T (p.Gln1734Ter)
c.5407C>T (p.Gln1803Ter)
c.4708C>T (p.Gln1570Ter)
c.5455C>T (p.Gln1819Ter)
dbSNP
16g.3729586G>CCA394556288CREBBPc.5461C>G (p.Gln1821Glu)
c.5347C>G (p.Gln1783Glu)
c.5416C>G (p.Gln1806Glu)
c.5044C>G (p.Gln1682Glu)
c.5200C>G (p.Gln1734Glu)
c.5407C>G (p.Gln1803Glu)
c.4708C>G (p.Gln1570Glu)
c.5455C>G (p.Gln1819Glu)
dbSNP
16g.3729586G>TCA394556287CREBBPc.5461C>A (p.Gln1821Lys)
c.5347C>A (p.Gln1783Lys)
c.5416C>A (p.Gln1806Lys)
c.5044C>A (p.Gln1682Lys)
c.5200C>A (p.Gln1734Lys)
c.5407C>A (p.Gln1803Lys)
c.4708C>A (p.Gln1570Lys)
c.5455C>A (p.Gln1819Lys)
16g.3729587C>ACA394556290CREBBPc.5460G>T (p.Lys1820Asn)
c.5346G>T (p.Lys1782Asn)
c.5415G>T (p.Lys1805Asn)
c.5043G>T (p.Lys1681Asn)
c.5199G>T (p.Lys1733Asn)
c.5406G>T (p.Lys1802Asn)
c.4707G>T (p.Lys1569Asn)
c.5454G>T (p.Lys1818Asn)
dbSNP
16g.3729587C=CA2202916459CREBBPc.5460G= (p.Lys1820=)
c.5346G= (p.Lys1782=)
c.5415G= (p.Lys1805=)
c.5043G= (p.Lys1681=)
c.5199G= (p.Lys1733=)
c.5406G= (p.Lys1802=)
c.4707G= (p.Lys1569=)
c.5454G= (p.Lys1818=)
16g.3729587C>GCA394556292CREBBPc.5460G>C (p.Lys1820Asn)
c.5346G>C (p.Lys1782Asn)
c.5415G>C (p.Lys1805Asn)
c.5043G>C (p.Lys1681Asn)
c.5199G>C (p.Lys1733Asn)
c.5406G>C (p.Lys1802Asn)
c.4707G>C (p.Lys1569Asn)
c.5454G>C (p.Lys1818Asn)
dbSNP
16g.3729587C>TCA7869278CREBBPc.5460G>A (p.Lys1820=)
c.5346G>A (p.Lys1782=)
c.5415G>A (p.Lys1805=)
c.5043G>A (p.Lys1681=)
c.5199G>A (p.Lys1733=)
c.5406G>A (p.Lys1802=)
c.4707G>A (p.Lys1569=)
c.5454G>A (p.Lys1818=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729588T>ACA394556296CREBBPc.5459A>T (p.Lys1820Met)
c.5345A>T (p.Lys1782Met)
c.5414A>T (p.Lys1805Met)
c.5042A>T (p.Lys1681Met)
c.5198A>T (p.Lys1733Met)
c.5405A>T (p.Lys1802Met)
c.4706A>T (p.Lys1569Met)
c.5453A>T (p.Lys1818Met)
gnomAD v4
16g.3729588T>CCA394556298CREBBPc.5459A>G (p.Lys1820Arg)
c.5345A>G (p.Lys1782Arg)
c.5414A>G (p.Lys1805Arg)
c.5042A>G (p.Lys1681Arg)
c.5198A>G (p.Lys1733Arg)
c.5405A>G (p.Lys1802Arg)
c.4706A>G (p.Lys1569Arg)
c.5453A>G (p.Lys1818Arg)
ClinVar dbSNP gnomAD v4
16g.3729588T>GCA394556299CREBBPc.5459A>C (p.Lys1820Thr)
c.5345A>C (p.Lys1782Thr)
c.5414A>C (p.Lys1805Thr)
c.5042A>C (p.Lys1681Thr)
c.5198A>C (p.Lys1733Thr)
c.5405A>C (p.Lys1802Thr)
c.4706A>C (p.Lys1569Thr)
c.5453A>C (p.Lys1818Thr)
16g.3729588T=CA2202916460CREBBPc.5459A= (p.Lys1820=)
c.5345A= (p.Lys1782=)
c.5414A= (p.Lys1805=)
c.5042A= (p.Lys1681=)
c.5198A= (p.Lys1733=)
c.5405A= (p.Lys1802=)
c.4706A= (p.Lys1569=)
c.5453A= (p.Lys1818=)
16g.3729589T>ACA394556302CREBBPc.5458A>T (p.Lys1820Ter)
c.5344A>T (p.Lys1782Ter)
c.5413A>T (p.Lys1805Ter)
c.5041A>T (p.Lys1681Ter)
c.5197A>T (p.Lys1733Ter)
c.5404A>T (p.Lys1802Ter)
c.4705A>T (p.Lys1569Ter)
c.5452A>T (p.Lys1818Ter)
dbSNP
16g.3729589T>CCA394556303CREBBPc.5458A>G (p.Lys1820Glu)
c.5344A>G (p.Lys1782Glu)
c.5413A>G (p.Lys1805Glu)
c.5041A>G (p.Lys1681Glu)
c.5197A>G (p.Lys1733Glu)
c.5404A>G (p.Lys1802Glu)
c.4705A>G (p.Lys1569Glu)
c.5452A>G (p.Lys1818Glu)
16g.3729589T>GCA394556305CREBBPc.5458A>C (p.Lys1820Gln)
c.5344A>C (p.Lys1782Gln)
c.5413A>C (p.Lys1805Gln)
c.5041A>C (p.Lys1681Gln)
c.5197A>C (p.Lys1733Gln)
c.5404A>C (p.Lys1802Gln)
c.4705A>C (p.Lys1569Gln)
c.5452A>C (p.Lys1818Gln)
16g.3729590G>ACA493394360CREBBPc.5457C>T (p.Cys1819=)
c.5343C>T (p.Cys1781=)
c.5412C>T (p.Cys1804=)
c.5040C>T (p.Cys1680=)
c.5196C>T (p.Cys1732=)
c.5403C>T (p.Cys1801=)
c.4704C>T (p.Cys1568=)
c.5451C>T (p.Cys1817=)
dbSNP gnomAD v4
16g.3729590G>CCA394556308CREBBPc.5457C>G (p.Cys1819Trp)
c.5343C>G (p.Cys1781Trp)
c.5412C>G (p.Cys1804Trp)
c.5040C>G (p.Cys1680Trp)
c.5196C>G (p.Cys1732Trp)
c.5403C>G (p.Cys1801Trp)
c.4704C>G (p.Cys1568Trp)
c.5451C>G (p.Cys1817Trp)
dbSNP
16g.3729590G>TCA394556309CREBBPc.5457C>A (p.Cys1819Ter)
c.5343C>A (p.Cys1781Ter)
c.5412C>A (p.Cys1804Ter)
c.5040C>A (p.Cys1680Ter)
c.5196C>A (p.Cys1732Ter)
c.5403C>A (p.Cys1801Ter)
c.4704C>A (p.Cys1568Ter)
c.5451C>A (p.Cys1817Ter)
COSMIC
16g.3729591C>ACA394556315CREBBPc.5456G>T (p.Cys1819Phe)
c.5342G>T (p.Cys1781Phe)
c.5411G>T (p.Cys1804Phe)
c.5039G>T (p.Cys1680Phe)
c.5195G>T (p.Cys1732Phe)
c.5402G>T (p.Cys1801Phe)
c.4703G>T (p.Cys1568Phe)
c.5450G>T (p.Cys1817Phe)
16g.3729591C>GCA394556312CREBBPc.5456G>C (p.Cys1819Ser)
c.5342G>C (p.Cys1781Ser)
c.5411G>C (p.Cys1804Ser)
c.5039G>C (p.Cys1680Ser)
c.5195G>C (p.Cys1732Ser)
c.5402G>C (p.Cys1801Ser)
c.4703G>C (p.Cys1568Ser)
c.5450G>C (p.Cys1817Ser)
dbSNP
16g.3729591C>TCA394556313CREBBPc.5456G>A (p.Cys1819Tyr)
c.5342G>A (p.Cys1781Tyr)
c.5411G>A (p.Cys1804Tyr)
c.5039G>A (p.Cys1680Tyr)
c.5195G>A (p.Cys1732Tyr)
c.5402G>A (p.Cys1801Tyr)
c.4703G>A (p.Cys1568Tyr)
c.5450G>A (p.Cys1817Tyr)
dbSNP
16g.3729592A>CCA394556317CREBBPc.5455T>G (p.Cys1819Gly)
c.5341T>G (p.Cys1781Gly)
c.5410T>G (p.Cys1804Gly)
c.5038T>G (p.Cys1680Gly)
c.5194T>G (p.Cys1732Gly)
c.5401T>G (p.Cys1801Gly)
c.4702T>G (p.Cys1568Gly)
c.5449T>G (p.Cys1817Gly)
dbSNP
16g.3729592A>GCA394556319CREBBPc.5455T>C (p.Cys1819Arg)
c.5341T>C (p.Cys1781Arg)
c.5410T>C (p.Cys1804Arg)
c.5038T>C (p.Cys1680Arg)
c.5194T>C (p.Cys1732Arg)
c.5401T>C (p.Cys1801Arg)
c.4702T>C (p.Cys1568Arg)
c.5449T>C (p.Cys1817Arg)
dbSNP
16g.3729592A>TCA394556321CREBBPc.5455T>A (p.Cys1819Ser)
c.5341T>A (p.Cys1781Ser)
c.5410T>A (p.Cys1804Ser)
c.5038T>A (p.Cys1680Ser)
c.5194T>A (p.Cys1732Ser)
c.5401T>A (p.Cys1801Ser)
c.4702T>A (p.Cys1568Ser)
c.5449T>A (p.Cys1817Ser)
dbSNP
16g.3729593C>ACA493394361CREBBPc.5454G>T (p.Val1818=)
c.5340G>T (p.Val1780=)
c.5409G>T (p.Val1803=)
c.5037G>T (p.Val1679=)
c.5193G>T (p.Val1731=)
c.5400G>T (p.Val1800=)
c.4701G>T (p.Val1567=)
c.5448G>T (p.Val1816=)
16g.3729593C=CA2202916461CREBBPc.5454G= (p.Val1818=)
c.5340G= (p.Val1780=)
c.5409G= (p.Val1803=)
c.5037G= (p.Val1679=)
c.5193G= (p.Val1731=)
c.5400G= (p.Val1800=)
c.4701G= (p.Val1567=)
c.5448G= (p.Val1816=)
16g.3729593C>GCA493394362CREBBPc.5454G>C (p.Val1818=)
c.5340G>C (p.Val1780=)
c.5409G>C (p.Val1803=)
c.5037G>C (p.Val1679=)
c.5193G>C (p.Val1731=)
c.5400G>C (p.Val1800=)
c.4701G>C (p.Val1567=)
c.5448G>C (p.Val1816=)
dbSNP
16g.3729593C>TCA171798CREBBPc.5454G>A (p.Val1818=)
c.5340G>A (p.Val1780=)
c.5409G>A (p.Val1803=)
c.5037G>A (p.Val1679=)
c.5193G>A (p.Val1731=)
c.5400G>A (p.Val1800=)
c.4701G>A (p.Val1567=)
c.5448G>A (p.Val1816=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729594A>CCA394556325CREBBPc.5453T>G (p.Val1818Gly)
c.5339T>G (p.Val1780Gly)
c.5408T>G (p.Val1803Gly)
c.5036T>G (p.Val1679Gly)
c.5192T>G (p.Val1731Gly)
c.5399T>G (p.Val1800Gly)
c.4700T>G (p.Val1567Gly)
c.5447T>G (p.Val1816Gly)
dbSNP
16g.3729594A>GCA394556326CREBBPc.5453T>C (p.Val1818Ala)
c.5339T>C (p.Val1780Ala)
c.5408T>C (p.Val1803Ala)
c.5036T>C (p.Val1679Ala)
c.5192T>C (p.Val1731Ala)
c.5399T>C (p.Val1800Ala)
c.4700T>C (p.Val1567Ala)
c.5447T>C (p.Val1816Ala)
16g.3729594A>TCA394556328CREBBPc.5453T>A (p.Val1818Glu)
c.5339T>A (p.Val1780Glu)
c.5408T>A (p.Val1803Glu)
c.5036T>A (p.Val1679Glu)
c.5192T>A (p.Val1731Glu)
c.5399T>A (p.Val1800Glu)
c.4700T>A (p.Val1567Glu)
c.5447T>A (p.Val1816Glu)
dbSNP
16g.3729595C>ACA394556330CREBBPc.5452G>T (p.Val1818Leu)
c.5338G>T (p.Val1780Leu)
c.5407G>T (p.Val1803Leu)
c.5035G>T (p.Val1679Leu)
c.5191G>T (p.Val1731Leu)
c.5398G>T (p.Val1800Leu)
c.4699G>T (p.Val1567Leu)
c.5446G>T (p.Val1816Leu)
dbSNP
16g.3729595C>GCA394556332CREBBPc.5452G>C (p.Val1818Leu)
c.5338G>C (p.Val1780Leu)
c.5407G>C (p.Val1803Leu)
c.5035G>C (p.Val1679Leu)
c.5191G>C (p.Val1731Leu)
c.5398G>C (p.Val1800Leu)
c.4699G>C (p.Val1567Leu)
c.5446G>C (p.Val1816Leu)
dbSNP
16g.3729595C>TCA394556334CREBBPc.5452G>A (p.Val1818Met)
c.5338G>A (p.Val1780Met)
c.5407G>A (p.Val1803Met)
c.5035G>A (p.Val1679Met)
c.5191G>A (p.Val1731Met)
c.5398G>A (p.Val1800Met)
c.4699G>A (p.Val1567Met)
c.5446G>A (p.Val1816Met)
dbSNP
16g.3729596C>ACA493394363CREBBPc.5451G>T (p.Pro1817=)
c.5337G>T (p.Pro1779=)
c.5406G>T (p.Pro1802=)
c.5034G>T (p.Pro1678=)
c.5190G>T (p.Pro1730=)
c.5397G>T (p.Pro1799=)
c.4698G>T (p.Pro1566=)
c.5445G>T (p.Pro1815=)
dbSNP gnomAD v3 gnomAD v4
16g.3729596C=CA2202916462CREBBPc.5451G= (p.Pro1817=)
c.5337G= (p.Pro1779=)
c.5406G= (p.Pro1802=)
c.5034G= (p.Pro1678=)
c.5190G= (p.Pro1730=)
c.5397G= (p.Pro1799=)
c.4698G= (p.Pro1566=)
c.5445G= (p.Pro1815=)
16g.3729596C>GCA493394364CREBBPc.5451G>C (p.Pro1817=)
c.5337G>C (p.Pro1779=)
c.5406G>C (p.Pro1802=)
c.5034G>C (p.Pro1678=)
c.5190G>C (p.Pro1730=)
c.5397G>C (p.Pro1799=)
c.4698G>C (p.Pro1566=)
c.5445G>C (p.Pro1815=)
16g.3729596C>TCA7869279CREBBPc.5451G>A (p.Pro1817=)
c.5337G>A (p.Pro1779=)
c.5406G>A (p.Pro1802=)
c.5034G>A (p.Pro1678=)
c.5190G>A (p.Pro1730=)
c.5397G>A (p.Pro1799=)
c.4698G>A (p.Pro1566=)
c.5445G>A (p.Pro1815=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729597G>ACA394556338CREBBPc.5450C>T (p.Pro1817Leu)
c.5336C>T (p.Pro1779Leu)
c.5405C>T (p.Pro1802Leu)
c.5033C>T (p.Pro1678Leu)
c.5189C>T (p.Pro1730Leu)
c.5396C>T (p.Pro1799Leu)
c.4697C>T (p.Pro1566Leu)
c.5444C>T (p.Pro1815Leu)
dbSNP gnomAD v4 COSMIC
16g.3729597G>CCA394556340CREBBPc.5450C>G (p.Pro1817Arg)
c.5336C>G (p.Pro1779Arg)
c.5405C>G (p.Pro1802Arg)
c.5033C>G (p.Pro1678Arg)
c.5189C>G (p.Pro1730Arg)
c.5396C>G (p.Pro1799Arg)
c.4697C>G (p.Pro1566Arg)
c.5444C>G (p.Pro1815Arg)
dbSNP
16g.3729597G>TCA394556342CREBBPc.5450C>A (p.Pro1817Gln)
c.5336C>A (p.Pro1779Gln)
c.5405C>A (p.Pro1802Gln)
c.5033C>A (p.Pro1678Gln)
c.5189C>A (p.Pro1730Gln)
c.5396C>A (p.Pro1799Gln)
c.4697C>A (p.Pro1566Gln)
c.5444C>A (p.Pro1815Gln)
dbSNP
16g.3729598G>ACA394556348CREBBPc.5449C>T (p.Pro1817Ser)
c.5335C>T (p.Pro1779Ser)
c.5404C>T (p.Pro1802Ser)
c.5032C>T (p.Pro1678Ser)
c.5188C>T (p.Pro1730Ser)
c.5395C>T (p.Pro1799Ser)
c.4696C>T (p.Pro1566Ser)
c.5443C>T (p.Pro1815Ser)
dbSNP
16g.3729598G>CCA394556346CREBBPc.5449C>G (p.Pro1817Ala)
c.5335C>G (p.Pro1779Ala)
c.5404C>G (p.Pro1802Ala)
c.5032C>G (p.Pro1678Ala)
c.5188C>G (p.Pro1730Ala)
c.5395C>G (p.Pro1799Ala)
c.4696C>G (p.Pro1566Ala)
c.5443C>G (p.Pro1815Ala)
dbSNP
16g.3729598G>TCA394556344CREBBPc.5449C>A (p.Pro1817Thr)
c.5335C>A (p.Pro1779Thr)
c.5404C>A (p.Pro1802Thr)
c.5032C>A (p.Pro1678Thr)
c.5188C>A (p.Pro1730Thr)
c.5395C>A (p.Pro1799Thr)
c.4696C>A (p.Pro1566Thr)
c.5443C>A (p.Pro1815Thr)
dbSNP
16g.3729599G>ACA493394365CREBBPc.5448C>T (p.Cys1816=)
c.5334C>T (p.Cys1778=)
c.5403C>T (p.Cys1801=)
c.5031C>T (p.Cys1677=)
c.5187C>T (p.Cys1729=)
c.5394C>T (p.Cys1798=)
c.4695C>T (p.Cys1565=)
c.5442C>T (p.Cys1814=)
dbSNP
16g.3729599G>CCA394556350CREBBPc.5448C>G (p.Cys1816Trp)
c.5334C>G (p.Cys1778Trp)
c.5403C>G (p.Cys1801Trp)
c.5031C>G (p.Cys1677Trp)
c.5187C>G (p.Cys1729Trp)
c.5394C>G (p.Cys1798Trp)
c.4695C>G (p.Cys1565Trp)
c.5442C>G (p.Cys1814Trp)
dbSNP
16g.3729599G>TCA394556352CREBBPc.5448C>A (p.Cys1816Ter)
c.5334C>A (p.Cys1778Ter)
c.5403C>A (p.Cys1801Ter)
c.5031C>A (p.Cys1677Ter)
c.5187C>A (p.Cys1729Ter)
c.5394C>A (p.Cys1798Ter)
c.4695C>A (p.Cys1565Ter)
c.5442C>A (p.Cys1814Ter)
dbSNP
16g.3729600C>ACA394556354CREBBPc.5447G>T (p.Cys1816Phe)
c.5333G>T (p.Cys1778Phe)
c.5402G>T (p.Cys1801Phe)
c.5030G>T (p.Cys1677Phe)
c.5186G>T (p.Cys1729Phe)
c.5393G>T (p.Cys1798Phe)
c.4694G>T (p.Cys1565Phe)
c.5441G>T (p.Cys1814Phe)
dbSNP COSMIC
16g.3729600C>GCA394556355CREBBPc.5447G>C (p.Cys1816Ser)
c.5333G>C (p.Cys1778Ser)
c.5402G>C (p.Cys1801Ser)
c.5030G>C (p.Cys1677Ser)
c.5186G>C (p.Cys1729Ser)
c.5393G>C (p.Cys1798Ser)
c.4694G>C (p.Cys1565Ser)
c.5441G>C (p.Cys1814Ser)
dbSNP
16g.3729600C>TCA394556357CREBBPc.5447G>A (p.Cys1816Tyr)
c.5333G>A (p.Cys1778Tyr)
c.5402G>A (p.Cys1801Tyr)
c.5030G>A (p.Cys1677Tyr)
c.5186G>A (p.Cys1729Tyr)
c.5393G>A (p.Cys1798Tyr)
c.4694G>A (p.Cys1565Tyr)
c.5441G>A (p.Cys1814Tyr)
dbSNP
16g.3729601A>CCA394556359CREBBPc.5446T>G (p.Cys1816Gly)
c.5332T>G (p.Cys1778Gly)
c.5401T>G (p.Cys1801Gly)
c.5029T>G (p.Cys1677Gly)
c.5185T>G (p.Cys1729Gly)
c.5392T>G (p.Cys1798Gly)
c.4693T>G (p.Cys1565Gly)
c.5440T>G (p.Cys1814Gly)
dbSNP
16g.3729601A>GCA394556361CREBBPc.5446T>C (p.Cys1816Arg)
c.5332T>C (p.Cys1778Arg)
c.5401T>C (p.Cys1801Arg)
c.5029T>C (p.Cys1677Arg)
c.5185T>C (p.Cys1729Arg)
c.5392T>C (p.Cys1798Arg)
c.4693T>C (p.Cys1565Arg)
c.5440T>C (p.Cys1814Arg)
dbSNP
16g.3729601A>TCA394556362CREBBPc.5446T>A (p.Cys1816Ser)
c.5332T>A (p.Cys1778Ser)
c.5401T>A (p.Cys1801Ser)
c.5029T>A (p.Cys1677Ser)
c.5185T>A (p.Cys1729Ser)
c.5392T>A (p.Cys1798Ser)
c.4693T>A (p.Cys1565Ser)
c.5440T>A (p.Cys1814Ser)
dbSNP
16g.3729601_3729602insCTGCCAAGAAAACAAATCA2805632981CREBBPc.5445_5446insATTTGTTTTCTTGGCAG (p.Cys1816IlefsTer?)
c.5331_5332insATTTGTTTTCTTGGCAG (p.Cys1778IlefsTer?)
c.5400_5401insATTTGTTTTCTTGGCAG (p.Cys1801IlefsTer?)
c.5028_5029insATTTGTTTTCTTGGCAG (p.Cys1677IlefsTer?)
c.5184_5185insATTTGTTTTCTTGGCAG (p.Cys1729IlefsTer?)
c.5391_5392insATTTGTTTTCTTGGCAG (p.Cys1798IlefsTer?)
c.4692_4693insATTTGTTTTCTTGGCAG (p.Cys1565IlefsTer?)
c.5439_5440insATTTGTTTTCTTGGCAG (p.Cys1814IlefsTer?)
16g.3729602G>ACA493394366CREBBPc.5445C>T (p.Gly1815=)
c.5331C>T (p.Gly1777=)
c.5400C>T (p.Gly1800=)
c.5028C>T (p.Gly1676=)
c.5184C>T (p.Gly1728=)
c.5391C>T (p.Gly1797=)
c.4692C>T (p.Gly1564=)
c.5439C>T (p.Gly1813=)
16g.3729602G>CCA493394367CREBBPc.5445C>G (p.Gly1815=)
c.5331C>G (p.Gly1777=)
c.5400C>G (p.Gly1800=)
c.5028C>G (p.Gly1676=)
c.5184C>G (p.Gly1728=)
c.5391C>G (p.Gly1797=)
c.4692C>G (p.Gly1564=)
c.5439C>G (p.Gly1813=)
16g.3729602G>TCA493394368CREBBPc.5445C>A (p.Gly1815=)
c.5331C>A (p.Gly1777=)
c.5400C>A (p.Gly1800=)
c.5028C>A (p.Gly1676=)
c.5184C>A (p.Gly1728=)
c.5391C>A (p.Gly1797=)
c.4692C>A (p.Gly1564=)
c.5439C>A (p.Gly1813=)
dbSNP
16g.3729603C>ACA394556365CREBBPc.5444G>T (p.Gly1815Val)
c.5330G>T (p.Gly1777Val)
c.5399G>T (p.Gly1800Val)
c.5027G>T (p.Gly1676Val)
c.5183G>T (p.Gly1728Val)
c.5390G>T (p.Gly1797Val)
c.4691G>T (p.Gly1564Val)
c.5438G>T (p.Gly1813Val)
dbSNP
16g.3729603C>GCA394556367CREBBPc.5444G>C (p.Gly1815Ala)
c.5330G>C (p.Gly1777Ala)
c.5399G>C (p.Gly1800Ala)
c.5027G>C (p.Gly1676Ala)
c.5183G>C (p.Gly1728Ala)
c.5390G>C (p.Gly1797Ala)
c.4691G>C (p.Gly1564Ala)
c.5438G>C (p.Gly1813Ala)
dbSNP
16g.3729603C>TCA394556369CREBBPc.5444G>A (p.Gly1815Asp)
c.5330G>A (p.Gly1777Asp)
c.5399G>A (p.Gly1800Asp)
c.5027G>A (p.Gly1676Asp)
c.5183G>A (p.Gly1728Asp)
c.5390G>A (p.Gly1797Asp)
c.4691G>A (p.Gly1564Asp)
c.5438G>A (p.Gly1813Asp)
dbSNP COSMIC
16g.3729604C>ACA394556371CREBBPc.5443G>T (p.Gly1815Cys)
c.5329G>T (p.Gly1777Cys)
c.5398G>T (p.Gly1800Cys)
c.5026G>T (p.Gly1676Cys)
c.5182G>T (p.Gly1728Cys)
c.5389G>T (p.Gly1797Cys)
c.4690G>T (p.Gly1564Cys)
c.5437G>T (p.Gly1813Cys)
dbSNP
16g.3729604C=CA2202916463CREBBPc.5443G= (p.Gly1815=)
c.5329G= (p.Gly1777=)
c.5398G= (p.Gly1800=)
c.5026G= (p.Gly1676=)
c.5182G= (p.Gly1728=)
c.5389G= (p.Gly1797=)
c.4690G= (p.Gly1564=)
c.5437G= (p.Gly1813=)
16g.3729604C>GCA394556373CREBBPc.5443G>C (p.Gly1815Arg)
c.5329G>C (p.Gly1777Arg)
c.5398G>C (p.Gly1800Arg)
c.5026G>C (p.Gly1676Arg)
c.5182G>C (p.Gly1728Arg)
c.5389G>C (p.Gly1797Arg)
c.4690G>C (p.Gly1564Arg)
c.5437G>C (p.Gly1813Arg)
16g.3729604C>TCA394556375CREBBPc.5443G>A (p.Gly1815Ser)
c.5329G>A (p.Gly1777Ser)
c.5398G>A (p.Gly1800Ser)
c.5026G>A (p.Gly1676Ser)
c.5182G>A (p.Gly1728Ser)
c.5389G>A (p.Gly1797Ser)
c.4690G>A (p.Gly1564Ser)
c.5437G>A (p.Gly1813Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729605C>ACA493394369CREBBPc.5442G>T (p.Gly1814=)
c.5328G>T (p.Gly1776=)
c.5397G>T (p.Gly1799=)
c.5025G>T (p.Gly1675=)
c.5181G>T (p.Gly1727=)
c.5388G>T (p.Gly1796=)
c.4689G>T (p.Gly1563=)
c.5436G>T (p.Gly1812=)
dbSNP gnomAD v4
16g.3729605C=CA2202916464CREBBPc.5442G= (p.Gly1814=)
c.5328G= (p.Gly1776=)
c.5397G= (p.Gly1799=)
c.5025G= (p.Gly1675=)
c.5181G= (p.Gly1727=)
c.5388G= (p.Gly1796=)
c.4689G= (p.Gly1563=)
c.5436G= (p.Gly1812=)
16g.3729605C>GCA493394370CREBBPc.5442G>C (p.Gly1814=)
c.5328G>C (p.Gly1776=)
c.5397G>C (p.Gly1799=)
c.5025G>C (p.Gly1675=)
c.5181G>C (p.Gly1727=)
c.5388G>C (p.Gly1796=)
c.4689G>C (p.Gly1563=)
c.5436G>C (p.Gly1812=)
dbSNP
16g.3729605C>TCA276972238CREBBPc.5442G>A (p.Gly1814=)
c.5328G>A (p.Gly1776=)
c.5397G>A (p.Gly1799=)
c.5025G>A (p.Gly1675=)
c.5181G>A (p.Gly1727=)
c.5388G>A (p.Gly1796=)
c.4689G>A (p.Gly1563=)
c.5436G>A (p.Gly1812=)
dbSNP
16g.3729606C>ACA394556379CREBBPc.5441G>T (p.Gly1814Val)
c.5327G>T (p.Gly1776Val)
c.5396G>T (p.Gly1799Val)
c.5024G>T (p.Gly1675Val)
c.5180G>T (p.Gly1727Val)
c.5387G>T (p.Gly1796Val)
c.4688G>T (p.Gly1563Val)
c.5435G>T (p.Gly1812Val)
16g.3729606C=CA2202916465CREBBPc.5441G= (p.Gly1814=)
c.5327G= (p.Gly1776=)
c.5396G= (p.Gly1799=)
c.5024G= (p.Gly1675=)
c.5180G= (p.Gly1727=)
c.5387G= (p.Gly1796=)
c.4688G= (p.Gly1563=)
c.5435G= (p.Gly1812=)
16g.3729606C>GCA7869280CREBBPc.5441G>C (p.Gly1814Ala)
c.5327G>C (p.Gly1776Ala)
c.5396G>C (p.Gly1799Ala)
c.5024G>C (p.Gly1675Ala)
c.5180G>C (p.Gly1727Ala)
c.5387G>C (p.Gly1796Ala)
c.4688G>C (p.Gly1563Ala)
c.5435G>C (p.Gly1812Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729606C>TCA394556377CREBBPc.5441G>A (p.Gly1814Glu)
c.5327G>A (p.Gly1776Glu)
c.5396G>A (p.Gly1799Glu)
c.5024G>A (p.Gly1675Glu)
c.5180G>A (p.Gly1727Glu)
c.5387G>A (p.Gly1796Glu)
c.4688G>A (p.Gly1563Glu)
c.5435G>A (p.Gly1812Glu)
16g.3729607C>ACA7869281CREBBPc.5440G>T (p.Gly1814Trp)
c.5326G>T (p.Gly1776Trp)
c.5395G>T (p.Gly1799Trp)
c.5023G>T (p.Gly1675Trp)
c.5179G>T (p.Gly1727Trp)
c.5386G>T (p.Gly1796Trp)
c.4687G>T (p.Gly1563Trp)
c.5434G>T (p.Gly1812Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729607C=CA2202916466CREBBPc.5440G= (p.Gly1814=)
c.5326G= (p.Gly1776=)
c.5395G= (p.Gly1799=)
c.5023G= (p.Gly1675=)
c.5179G= (p.Gly1727=)
c.5386G= (p.Gly1796=)
c.4687G= (p.Gly1563=)
c.5434G= (p.Gly1812=)
16g.3729607C>GCA394556384CREBBPc.5440G>C (p.Gly1814Arg)
c.5326G>C (p.Gly1776Arg)
c.5395G>C (p.Gly1799Arg)
c.5023G>C (p.Gly1675Arg)
c.5179G>C (p.Gly1727Arg)
c.5386G>C (p.Gly1796Arg)
c.4687G>C (p.Gly1563Arg)
c.5434G>C (p.Gly1812Arg)
dbSNP
16g.3729607C>TCA394556386CREBBPc.5440G>A (p.Gly1814Arg)
c.5326G>A (p.Gly1776Arg)
c.5395G>A (p.Gly1799Arg)
c.5023G>A (p.Gly1675Arg)
c.5179G>A (p.Gly1727Arg)
c.5386G>A (p.Gly1796Arg)
c.4687G>A (p.Gly1563Arg)
c.5434G>A (p.Gly1812Arg)
ClinVar dbSNP gnomAD v4 COSMIC
16g.3729608G>ACA276972245CREBBPc.5439C>T (p.Asn1813=)
c.5325C>T (p.Asn1775=)
c.5394C>T (p.Asn1798=)
c.5022C>T (p.Asn1674=)
c.5178C>T (p.Asn1726=)
c.5385C>T (p.Asn1795=)
c.4686C>T (p.Asn1562=)
c.5433C>T (p.Asn1811=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729608G>CCA394556389CREBBPc.5439C>G (p.Asn1813Lys)
c.5325C>G (p.Asn1775Lys)
c.5394C>G (p.Asn1798Lys)
c.5022C>G (p.Asn1674Lys)
c.5178C>G (p.Asn1726Lys)
c.5385C>G (p.Asn1795Lys)
c.4686C>G (p.Asn1562Lys)
c.5433C>G (p.Asn1811Lys)
ClinVar dbSNP
16g.3729608G=CA2202916467CREBBPc.5439C= (p.Asn1813=)
c.5325C= (p.Asn1775=)
c.5394C= (p.Asn1798=)
c.5022C= (p.Asn1674=)
c.5178C= (p.Asn1726=)
c.5385C= (p.Asn1795=)
c.4686C= (p.Asn1562=)
c.5433C= (p.Asn1811=)
16g.3729608G>TCA394556390CREBBPc.5439C>A (p.Asn1813Lys)
c.5325C>A (p.Asn1775Lys)
c.5394C>A (p.Asn1798Lys)
c.5022C>A (p.Asn1674Lys)
c.5178C>A (p.Asn1726Lys)
c.5385C>A (p.Asn1795Lys)
c.4686C>A (p.Asn1562Lys)
c.5433C>A (p.Asn1811Lys)
dbSNP
16g.3729609T>ACA394556395CREBBPc.5438A>T (p.Asn1813Ile)
c.5324A>T (p.Asn1775Ile)
c.5393A>T (p.Asn1798Ile)
c.5021A>T (p.Asn1674Ile)
c.5177A>T (p.Asn1726Ile)
c.5384A>T (p.Asn1795Ile)
c.4685A>T (p.Asn1562Ile)
c.5432A>T (p.Asn1811Ile)
dbSNP
16g.3729609T>CCA394556397CREBBPc.5438A>G (p.Asn1813Ser)
c.5324A>G (p.Asn1775Ser)
c.5393A>G (p.Asn1798Ser)
c.5021A>G (p.Asn1674Ser)
c.5177A>G (p.Asn1726Ser)
c.5384A>G (p.Asn1795Ser)
c.4685A>G (p.Asn1562Ser)
c.5432A>G (p.Asn1811Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729609T>GCA394556399CREBBPc.5438A>C (p.Asn1813Thr)
c.5324A>C (p.Asn1775Thr)
c.5393A>C (p.Asn1798Thr)
c.5021A>C (p.Asn1674Thr)
c.5177A>C (p.Asn1726Thr)
c.5384A>C (p.Asn1795Thr)
c.4685A>C (p.Asn1562Thr)
c.5432A>C (p.Asn1811Thr)
dbSNP
16g.3729609T=CA2202916468CREBBPc.5438A= (p.Asn1813=)
c.5324A= (p.Asn1775=)
c.5393A= (p.Asn1798=)
c.5021A= (p.Asn1674=)
c.5177A= (p.Asn1726=)
c.5384A= (p.Asn1795=)
c.4685A= (p.Asn1562=)
c.5432A= (p.Asn1811=)
16g.3729610T>ACA394556402CREBBPc.5437A>T (p.Asn1813Tyr)
c.5323A>T (p.Asn1775Tyr)
c.5392A>T (p.Asn1798Tyr)
c.5020A>T (p.Asn1674Tyr)
c.5176A>T (p.Asn1726Tyr)
c.5383A>T (p.Asn1795Tyr)
c.4684A>T (p.Asn1562Tyr)
c.5431A>T (p.Asn1811Tyr)
dbSNP
16g.3729610T>CCA394556403CREBBPc.5437A>G (p.Asn1813Asp)
c.5323A>G (p.Asn1775Asp)
c.5392A>G (p.Asn1798Asp)
c.5020A>G (p.Asn1674Asp)
c.5176A>G (p.Asn1726Asp)
c.5383A>G (p.Asn1795Asp)
c.4684A>G (p.Asn1562Asp)
c.5431A>G (p.Asn1811Asp)
dbSNP
16g.3729610T>GCA394556405CREBBPc.5437A>C (p.Asn1813His)
c.5323A>C (p.Asn1775His)
c.5392A>C (p.Asn1798His)
c.5020A>C (p.Asn1674His)
c.5176A>C (p.Asn1726His)
c.5383A>C (p.Asn1795His)
c.4684A>C (p.Asn1562His)
c.5431A>C (p.Asn1811His)
dbSNP
16g.3729611G>ACA493394371CREBBPc.5436C>T (p.Thr1812=)
c.5322C>T (p.Thr1774=)
c.5391C>T (p.Thr1797=)
c.5019C>T (p.Thr1673=)
c.5175C>T (p.Thr1725=)
c.5382C>T (p.Thr1794=)
c.4683C>T (p.Thr1561=)
c.5430C>T (p.Thr1810=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729611G>CCA148130CREBBPc.5436C>G (p.Thr1812=)
c.5322C>G (p.Thr1774=)
c.5391C>G (p.Thr1797=)
c.5019C>G (p.Thr1673=)
c.5175C>G (p.Thr1725=)
c.5382C>G (p.Thr1794=)
c.4683C>G (p.Thr1561=)
c.5430C>G (p.Thr1810=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729611G=CA2202916469CREBBPc.5436C= (p.Thr1812=)
c.5322C= (p.Thr1774=)
c.5391C= (p.Thr1797=)
c.5019C= (p.Thr1673=)
c.5175C= (p.Thr1725=)
c.5382C= (p.Thr1794=)
c.4683C= (p.Thr1561=)
c.5430C= (p.Thr1810=)
16g.3729611G>TCA493394372CREBBPc.5436C>A (p.Thr1812=)
c.5322C>A (p.Thr1774=)
c.5391C>A (p.Thr1797=)
c.5019C>A (p.Thr1673=)
c.5175C>A (p.Thr1725=)
c.5382C>A (p.Thr1794=)
c.4683C>A (p.Thr1561=)
c.5430C>A (p.Thr1810=)
dbSNP gnomAD v4
16g.3729612G>ACA394556412CREBBPc.5435C>T (p.Thr1812Ile)
c.5321C>T (p.Thr1774Ile)
c.5390C>T (p.Thr1797Ile)
c.5018C>T (p.Thr1673Ile)
c.5174C>T (p.Thr1725Ile)
c.5381C>T (p.Thr1794Ile)
c.4682C>T (p.Thr1561Ile)
c.5429C>T (p.Thr1810Ile)
dbSNP
16g.3729612G>CCA394556409CREBBPc.5435C>G (p.Thr1812Ser)
c.5321C>G (p.Thr1774Ser)
c.5390C>G (p.Thr1797Ser)
c.5018C>G (p.Thr1673Ser)
c.5174C>G (p.Thr1725Ser)
c.5381C>G (p.Thr1794Ser)
c.4682C>G (p.Thr1561Ser)
c.5429C>G (p.Thr1810Ser)
dbSNP
16g.3729612G>TCA394556410CREBBPc.5435C>A (p.Thr1812Asn)
c.5321C>A (p.Thr1774Asn)
c.5390C>A (p.Thr1797Asn)
c.5018C>A (p.Thr1673Asn)
c.5174C>A (p.Thr1725Asn)
c.5381C>A (p.Thr1794Asn)
c.4682C>A (p.Thr1561Asn)
c.5429C>A (p.Thr1810Asn)
16g.3729613T>ACA394556415CREBBPc.5434A>T (p.Thr1812Ser)
c.5320A>T (p.Thr1774Ser)
c.5389A>T (p.Thr1797Ser)
c.5017A>T (p.Thr1673Ser)
c.5173A>T (p.Thr1725Ser)
c.5380A>T (p.Thr1794Ser)
c.4681A>T (p.Thr1561Ser)
c.5428A>T (p.Thr1810Ser)
dbSNP
16g.3729613T>CCA394556417CREBBPc.5434A>G (p.Thr1812Ala)
c.5320A>G (p.Thr1774Ala)
c.5389A>G (p.Thr1797Ala)
c.5017A>G (p.Thr1673Ala)
c.5173A>G (p.Thr1725Ala)
c.5380A>G (p.Thr1794Ala)
c.4681A>G (p.Thr1561Ala)
c.5428A>G (p.Thr1810Ala)
dbSNP
16g.3729613T>GCA394556418CREBBPc.5434A>C (p.Thr1812Pro)
c.5320A>C (p.Thr1774Pro)
c.5389A>C (p.Thr1797Pro)
c.5017A>C (p.Thr1673Pro)
c.5173A>C (p.Thr1725Pro)
c.5380A>C (p.Thr1794Pro)
c.4681A>C (p.Thr1561Pro)
c.5428A>C (p.Thr1810Pro)
dbSNP
16g.3729614C>ACA394556420CREBBPc.5433G>T (p.Lys1811Asn)
c.5319G>T (p.Lys1773Asn)
c.5388G>T (p.Lys1796Asn)
c.5016G>T (p.Lys1672Asn)
c.5172G>T (p.Lys1724Asn)
c.5379G>T (p.Lys1793Asn)
c.4680G>T (p.Lys1560Asn)
c.5427G>T (p.Lys1809Asn)
dbSNP
16g.3729614C>GCA394556422CREBBPc.5433G>C (p.Lys1811Asn)
c.5319G>C (p.Lys1773Asn)
c.5388G>C (p.Lys1796Asn)
c.5016G>C (p.Lys1672Asn)
c.5172G>C (p.Lys1724Asn)
c.5379G>C (p.Lys1793Asn)
c.4680G>C (p.Lys1560Asn)
c.5427G>C (p.Lys1809Asn)
dbSNP
16g.3729614C>TCA493394373CREBBPc.5433G>A (p.Lys1811=)
c.5319G>A (p.Lys1773=)
c.5388G>A (p.Lys1796=)
c.5016G>A (p.Lys1672=)
c.5172G>A (p.Lys1724=)
c.5379G>A (p.Lys1793=)
c.4680G>A (p.Lys1560=)
c.5427G>A (p.Lys1809=)
dbSNP COSMIC
16g.3729614_3729686delinsCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGCA2202916470CREBBPc.5361_5433delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1787=)
c.5247_5319delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1749=)
c.5316_5388delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1772=)
c.4944_5016delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1648=)
c.5100_5172delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1700=)
c.5307_5379delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1769=)
c.4608_4680delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1536=)
c.5355_5427delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1785=)
16g.3729615T>ACA394556425CREBBPc.5432A>T (p.Lys1811Met)
c.5318A>T (p.Lys1773Met)
c.5387A>T (p.Lys1796Met)
c.5015A>T (p.Lys1672Met)
c.5171A>T (p.Lys1724Met)
c.5378A>T (p.Lys1793Met)
c.4679A>T (p.Lys1560Met)
c.5426A>T (p.Lys1809Met)
dbSNP
16g.3729615T>CCA394556427CREBBPc.5432A>G (p.Lys1811Arg)
c.5318A>G (p.Lys1773Arg)
c.5387A>G (p.Lys1796Arg)
c.5015A>G (p.Lys1672Arg)
c.5171A>G (p.Lys1724Arg)
c.5378A>G (p.Lys1793Arg)
c.4679A>G (p.Lys1560Arg)
c.5426A>G (p.Lys1809Arg)
dbSNP
16g.3729615T>GCA394556428CREBBPc.5432A>C (p.Lys1811Thr)
c.5318A>C (p.Lys1773Thr)
c.5387A>C (p.Lys1796Thr)
c.5015A>C (p.Lys1672Thr)
c.5171A>C (p.Lys1724Thr)
c.5378A>C (p.Lys1793Thr)
c.4679A>C (p.Lys1560Thr)
c.5426A>C (p.Lys1809Thr)
16g.3729620_3729691delCA658658387CREBBPc.5361_5432del (p.Asn1787_Arg1810del)
c.5247_5318del (p.Asn1749_Arg1772del)
c.5316_5387del (p.Asn1772_Arg1795del)
c.4944_5015del (p.Asn1648_Arg1671del)
c.5100_5171del (p.Asn1700_Arg1723del)
c.5307_5378del (p.Asn1769_Arg1792del)
c.4608_4679del (p.Asn1536_Arg1559del)
c.5355_5426del (p.Asn1785_Arg1808del)
ClinVar dbSNP
16g.3729616T>ACA394556430CREBBPc.5431A>T (p.Lys1811Ter)
c.5317A>T (p.Lys1773Ter)
c.5386A>T (p.Lys1796Ter)
c.5014A>T (p.Lys1672Ter)
c.5170A>T (p.Lys1724Ter)
c.5377A>T (p.Lys1793Ter)
c.4678A>T (p.Lys1560Ter)
c.5425A>T (p.Lys1809Ter)
16g.3729616T>CCA394556431CREBBPc.5431A>G (p.Lys1811Glu)
c.5317A>G (p.Lys1773Glu)
c.5386A>G (p.Lys1796Glu)
c.5014A>G (p.Lys1672Glu)
c.5170A>G (p.Lys1724Glu)
c.5377A>G (p.Lys1793Glu)
c.4678A>G (p.Lys1560Glu)
c.5425A>G (p.Lys1809Glu)
dbSNP
16g.3729616T>GCA394556433CREBBPc.5431A>C (p.Lys1811Gln)
c.5317A>C (p.Lys1773Gln)
c.5386A>C (p.Lys1796Gln)
c.5014A>C (p.Lys1672Gln)
c.5170A>C (p.Lys1724Gln)
c.5377A>C (p.Lys1793Gln)
c.4678A>C (p.Lys1560Gln)
c.5425A>C (p.Lys1809Gln)
16g.3729617G>ACA493394374CREBBPc.5430C>T (p.Arg1810=)
c.5316C>T (p.Arg1772=)
c.5385C>T (p.Arg1795=)
c.5013C>T (p.Arg1671=)
c.5169C>T (p.Arg1723=)
c.5376C>T (p.Arg1792=)
c.4677C>T (p.Arg1559=)
c.5424C>T (p.Arg1808=)
dbSNP
16g.3729617G>CCA493394375CREBBPc.5430C>G (p.Arg1810=)
c.5316C>G (p.Arg1772=)
c.5385C>G (p.Arg1795=)
c.5013C>G (p.Arg1671=)
c.5169C>G (p.Arg1723=)
c.5376C>G (p.Arg1792=)
c.4677C>G (p.Arg1559=)
c.5424C>G (p.Arg1808=)
dbSNP
16g.3729617G>TCA493394376CREBBPc.5430C>A (p.Arg1810=)
c.5316C>A (p.Arg1772=)
c.5385C>A (p.Arg1795=)
c.5013C>A (p.Arg1671=)
c.5169C>A (p.Arg1723=)
c.5376C>A (p.Arg1792=)
c.4677C>A (p.Arg1559=)
c.5424C>A (p.Arg1808=)
16g.3729618C>ACA394556435CREBBPc.5429G>T (p.Arg1810Leu)
c.5315G>T (p.Arg1772Leu)
c.5384G>T (p.Arg1795Leu)
c.5012G>T (p.Arg1671Leu)
c.5168G>T (p.Arg1723Leu)
c.5375G>T (p.Arg1792Leu)
c.4676G>T (p.Arg1559Leu)
c.5423G>T (p.Arg1808Leu)
16g.3729618C>GCA394556439CREBBPc.5429G>C (p.Arg1810Pro)
c.5315G>C (p.Arg1772Pro)
c.5384G>C (p.Arg1795Pro)
c.5012G>C (p.Arg1671Pro)
c.5168G>C (p.Arg1723Pro)
c.5375G>C (p.Arg1792Pro)
c.4676G>C (p.Arg1559Pro)
c.5423G>C (p.Arg1808Pro)
dbSNP
16g.3729618C>TCA394556437CREBBPc.5429G>A (p.Arg1810His)
c.5315G>A (p.Arg1772His)
c.5384G>A (p.Arg1795His)
c.5012G>A (p.Arg1671His)
c.5168G>A (p.Arg1723His)
c.5375G>A (p.Arg1792His)
c.4676G>A (p.Arg1559His)
c.5423G>A (p.Arg1808His)
dbSNP
16g.3729619G>ACA394556441CREBBPc.5428C>T (p.Arg1810Cys)
c.5314C>T (p.Arg1772Cys)
c.5383C>T (p.Arg1795Cys)
c.5011C>T (p.Arg1671Cys)
c.5167C>T (p.Arg1723Cys)
c.5374C>T (p.Arg1792Cys)
c.4675C>T (p.Arg1559Cys)
c.5422C>T (p.Arg1808Cys)
dbSNP
16g.3729619G>CCA394556444CREBBPc.5428C>G (p.Arg1810Gly)
c.5314C>G (p.Arg1772Gly)
c.5383C>G (p.Arg1795Gly)
c.5011C>G (p.Arg1671Gly)
c.5167C>G (p.Arg1723Gly)
c.5374C>G (p.Arg1792Gly)
c.4675C>G (p.Arg1559Gly)
c.5422C>G (p.Arg1808Gly)
dbSNP
16g.3729619G=CA2202916471CREBBPc.5428C= (p.Arg1810=)
c.5314C= (p.Arg1772=)
c.5383C= (p.Arg1795=)
c.5011C= (p.Arg1671=)
c.5167C= (p.Arg1723=)
c.5374C= (p.Arg1792=)
c.4675C= (p.Arg1559=)
c.5422C= (p.Arg1808=)
16g.3729619G>TCA394556443CREBBPc.5428C>A (p.Arg1810Ser)
c.5314C>A (p.Arg1772Ser)
c.5383C>A (p.Arg1795Ser)
c.5011C>A (p.Arg1671Ser)
c.5167C>A (p.Arg1723Ser)
c.5374C>A (p.Arg1792Ser)
c.4675C>A (p.Arg1559Ser)
c.5422C>A (p.Arg1808Ser)
16g.3729620T>ACA394556445CREBBPc.5427A>T (p.Lys1809Asn)
c.5313A>T (p.Lys1771Asn)
c.5382A>T (p.Lys1794Asn)
c.5010A>T (p.Lys1670Asn)
c.5166A>T (p.Lys1722Asn)
c.5373A>T (p.Lys1791Asn)
c.4674A>T (p.Lys1558Asn)
c.5421A>T (p.Lys1807Asn)
dbSNP
16g.3729620T>CCA493394377CREBBPc.5427A>G (p.Lys1809=)
c.5313A>G (p.Lys1771=)
c.5382A>G (p.Lys1794=)
c.5010A>G (p.Lys1670=)
c.5166A>G (p.Lys1722=)
c.5373A>G (p.Lys1791=)
c.4674A>G (p.Lys1558=)
c.5421A>G (p.Lys1807=)
dbSNP
16g.3729620T>GCA394556446CREBBPc.5427A>C (p.Lys1809Asn)
c.5313A>C (p.Lys1771Asn)
c.5382A>C (p.Lys1794Asn)
c.5010A>C (p.Lys1670Asn)
c.5166A>C (p.Lys1722Asn)
c.5373A>C (p.Lys1791Asn)
c.4674A>C (p.Lys1558Asn)
c.5421A>C (p.Lys1807Asn)
dbSNP
16g.3729622delCA2731851214CREBBPc.5427del (p.Lys1809AsnfsTer?)
c.5313del (p.Lys1771AsnfsTer?)
c.5382del (p.Lys1794AsnfsTer?)
c.5010del (p.Lys1670AsnfsTer?)
c.5166del (p.Lys1722AsnfsTer?)
c.5373del (p.Lys1791AsnfsTer?)
c.4674del (p.Lys1558AsnfsTer?)
c.5421del (p.Lys1807AsnfsTer?)
dbSNP
16g.3729621T>ACA394556447CREBBPc.5426A>T (p.Lys1809Ile)
c.5312A>T (p.Lys1771Ile)
c.5381A>T (p.Lys1794Ile)
c.5009A>T (p.Lys1670Ile)
c.5165A>T (p.Lys1722Ile)
c.5372A>T (p.Lys1791Ile)
c.4673A>T (p.Lys1558Ile)
c.5420A>T (p.Lys1807Ile)
dbSNP
16g.3729621T>CCA394556448CREBBPc.5426A>G (p.Lys1809Arg)
c.5312A>G (p.Lys1771Arg)
c.5381A>G (p.Lys1794Arg)
c.5009A>G (p.Lys1670Arg)
c.5165A>G (p.Lys1722Arg)
c.5372A>G (p.Lys1791Arg)
c.4673A>G (p.Lys1558Arg)
c.5420A>G (p.Lys1807Arg)
dbSNP
16g.3729621T>GCA394556449CREBBPc.5426A>C (p.Lys1809Thr)
c.5312A>C (p.Lys1771Thr)
c.5381A>C (p.Lys1794Thr)
c.5009A>C (p.Lys1670Thr)
c.5165A>C (p.Lys1722Thr)
c.5372A>C (p.Lys1791Thr)
c.4673A>C (p.Lys1558Thr)
c.5420A>C (p.Lys1807Thr)
dbSNP gnomAD v3 gnomAD v4
16g.3729621T=CA2202916472CREBBPc.5426A= (p.Lys1809=)
c.5312A= (p.Lys1771=)
c.5381A= (p.Lys1794=)
c.5009A= (p.Lys1670=)
c.5165A= (p.Lys1722=)
c.5372A= (p.Lys1791=)
c.4673A= (p.Lys1558=)
c.5420A= (p.Lys1807=)
16g.3729622T>ACA394556450CREBBPc.5425A>T (p.Lys1809Ter)
c.5311A>T (p.Lys1771Ter)
c.5380A>T (p.Lys1794Ter)
c.5008A>T (p.Lys1670Ter)
c.5164A>T (p.Lys1722Ter)
c.5371A>T (p.Lys1791Ter)
c.4672A>T (p.Lys1558Ter)
c.5419A>T (p.Lys1807Ter)
dbSNP
16g.3729622T>CCA394556451CREBBPc.5425A>G (p.Lys1809Glu)
c.5311A>G (p.Lys1771Glu)
c.5380A>G (p.Lys1794Glu)
c.5008A>G (p.Lys1670Glu)
c.5164A>G (p.Lys1722Glu)
c.5371A>G (p.Lys1791Glu)
c.4672A>G (p.Lys1558Glu)
c.5419A>G (p.Lys1807Glu)
dbSNP
16g.3729622T>GCA394556452CREBBPc.5425A>C (p.Lys1809Gln)
c.5311A>C (p.Lys1771Gln)
c.5380A>C (p.Lys1794Gln)
c.5008A>C (p.Lys1670Gln)
c.5164A>C (p.Lys1722Gln)
c.5371A>C (p.Lys1791Gln)
c.4672A>C (p.Lys1558Gln)
c.5419A>C (p.Lys1807Gln)
16g.3729623G>ACA493394378CREBBPc.5424C>T (p.Cys1808=)
c.5310C>T (p.Cys1770=)
c.5379C>T (p.Cys1793=)
c.5007C>T (p.Cys1669=)
c.5163C>T (p.Cys1721=)
c.5370C>T (p.Cys1790=)
c.4671C>T (p.Cys1557=)
c.5418C>T (p.Cys1806=)
16g.3729623G>CCA394556454CREBBPc.5424C>G (p.Cys1808Trp)
c.5310C>G (p.Cys1770Trp)
c.5379C>G (p.Cys1793Trp)
c.5007C>G (p.Cys1669Trp)
c.5163C>G (p.Cys1721Trp)
c.5370C>G (p.Cys1790Trp)
c.4671C>G (p.Cys1557Trp)
c.5418C>G (p.Cys1806Trp)
16g.3729623G>TCA394556455CREBBPc.5424C>A (p.Cys1808Ter)
c.5310C>A (p.Cys1770Ter)
c.5379C>A (p.Cys1793Ter)
c.5007C>A (p.Cys1669Ter)
c.5163C>A (p.Cys1721Ter)
c.5370C>A (p.Cys1790Ter)
c.4671C>A (p.Cys1557Ter)
c.5418C>A (p.Cys1806Ter)
gnomAD v4 COSMIC
16g.3729624C>ACA394556457CREBBPc.5423G>T (p.Cys1808Phe)
c.5309G>T (p.Cys1770Phe)
c.5378G>T (p.Cys1793Phe)
c.5006G>T (p.Cys1669Phe)
c.5162G>T (p.Cys1721Phe)
c.5369G>T (p.Cys1790Phe)
c.4670G>T (p.Cys1557Phe)
c.5417G>T (p.Cys1806Phe)
dbSNP
16g.3729624C>GCA394556458CREBBPc.5423G>C (p.Cys1808Ser)
c.5309G>C (p.Cys1770Ser)
c.5378G>C (p.Cys1793Ser)
c.5006G>C (p.Cys1669Ser)
c.5162G>C (p.Cys1721Ser)
c.5369G>C (p.Cys1790Ser)
c.4670G>C (p.Cys1557Ser)
c.5417G>C (p.Cys1806Ser)
16g.3729624C>TCA394556459CREBBPc.5423G>A (p.Cys1808Tyr)
c.5309G>A (p.Cys1770Tyr)
c.5378G>A (p.Cys1793Tyr)
c.5006G>A (p.Cys1669Tyr)
c.5162G>A (p.Cys1721Tyr)
c.5369G>A (p.Cys1790Tyr)
c.4670G>A (p.Cys1557Tyr)
c.5417G>A (p.Cys1806Tyr)
16g.3729625A>CCA394556465CREBBPc.5422T>G (p.Cys1808Gly)
c.5308T>G (p.Cys1770Gly)
c.5377T>G (p.Cys1793Gly)
c.5005T>G (p.Cys1669Gly)
c.5161T>G (p.Cys1721Gly)
c.5368T>G (p.Cys1790Gly)
c.4669T>G (p.Cys1557Gly)
c.5416T>G (p.Cys1806Gly)
dbSNP
16g.3729625A>GCA394556463CREBBPc.5422T>C (p.Cys1808Arg)
c.5308T>C (p.Cys1770Arg)
c.5377T>C (p.Cys1793Arg)
c.5005T>C (p.Cys1669Arg)
c.5161T>C (p.Cys1721Arg)
c.5368T>C (p.Cys1790Arg)
c.4669T>C (p.Cys1557Arg)
c.5416T>C (p.Cys1806Arg)
dbSNP
16g.3729625A>TCA394556461CREBBPc.5422T>A (p.Cys1808Ser)
c.5308T>A (p.Cys1770Ser)
c.5377T>A (p.Cys1793Ser)
c.5005T>A (p.Cys1669Ser)
c.5161T>A (p.Cys1721Ser)
c.5368T>A (p.Cys1790Ser)
c.4669T>A (p.Cys1557Ser)
c.5416T>A (p.Cys1806Ser)
dbSNP
16g.3729626G>ACA493394379CREBBPc.5421C>T (p.Gly1807=)
c.5307C>T (p.Gly1769=)
c.5376C>T (p.Gly1792=)
c.5004C>T (p.Gly1668=)
c.5160C>T (p.Gly1720=)
c.5367C>T (p.Gly1789=)
c.4668C>T (p.Gly1556=)
c.5415C>T (p.Gly1805=)
dbSNP gnomAD v4
16g.3729626G>CCA493394380CREBBPc.5421C>G (p.Gly1807=)
c.5307C>G (p.Gly1769=)
c.5376C>G (p.Gly1792=)
c.5004C>G (p.Gly1668=)
c.5160C>G (p.Gly1720=)
c.5367C>G (p.Gly1789=)
c.4668C>G (p.Gly1556=)
c.5415C>G (p.Gly1805=)
dbSNP
16g.3729626G>TCA493394381CREBBPc.5421C>A (p.Gly1807=)
c.5307C>A (p.Gly1769=)
c.5376C>A (p.Gly1792=)
c.5004C>A (p.Gly1668=)
c.5160C>A (p.Gly1720=)
c.5367C>A (p.Gly1789=)
c.4668C>A (p.Gly1556=)
c.5415C>A (p.Gly1805=)
dbSNP
16g.3729627C>ACA394556468CREBBPc.5420G>T (p.Gly1807Val)
c.5306G>T (p.Gly1769Val)
c.5375G>T (p.Gly1792Val)
c.5003G>T (p.Gly1668Val)
c.5159G>T (p.Gly1720Val)
c.5366G>T (p.Gly1789Val)
c.4667G>T (p.Gly1556Val)
c.5414G>T (p.Gly1805Val)
16g.3729627C>GCA394556470CREBBPc.5420G>C (p.Gly1807Ala)
c.5306G>C (p.Gly1769Ala)
c.5375G>C (p.Gly1792Ala)
c.5003G>C (p.Gly1668Ala)
c.5159G>C (p.Gly1720Ala)
c.5366G>C (p.Gly1789Ala)
c.4667G>C (p.Gly1556Ala)
c.5414G>C (p.Gly1805Ala)
16g.3729627C>TCA394556472CREBBPc.5420G>A (p.Gly1807Asp)
c.5306G>A (p.Gly1769Asp)
c.5375G>A (p.Gly1792Asp)
c.5003G>A (p.Gly1668Asp)
c.5159G>A (p.Gly1720Asp)
c.5366G>A (p.Gly1789Asp)
c.4667G>A (p.Gly1556Asp)
c.5414G>A (p.Gly1805Asp)
16g.3729628C>ACA394556473CREBBPc.5419G>T (p.Gly1807Cys)
c.5305G>T (p.Gly1769Cys)
c.5374G>T (p.Gly1792Cys)
c.5002G>T (p.Gly1668Cys)
c.5158G>T (p.Gly1720Cys)
c.5365G>T (p.Gly1789Cys)
c.4666G>T (p.Gly1556Cys)
c.5413G>T (p.Gly1805Cys)
dbSNP
16g.3729628C>GCA394556475CREBBPc.5419G>C (p.Gly1807Arg)
c.5305G>C (p.Gly1769Arg)
c.5374G>C (p.Gly1792Arg)
c.5002G>C (p.Gly1668Arg)
c.5158G>C (p.Gly1720Arg)
c.5365G>C (p.Gly1789Arg)
c.4666G>C (p.Gly1556Arg)
c.5413G>C (p.Gly1805Arg)
dbSNP
16g.3729628C>TCA394556477CREBBPc.5419G>A (p.Gly1807Ser)
c.5305G>A (p.Gly1769Ser)
c.5374G>A (p.Gly1792Ser)
c.5002G>A (p.Gly1668Ser)
c.5158G>A (p.Gly1720Ser)
c.5365G>A (p.Gly1789Ser)
c.4666G>A (p.Gly1556Ser)
c.5413G>A (p.Gly1805Ser)
dbSNP
16g.3729629C>ACA394556479CREBBPc.5418G>T (p.Lys1806Asn)
c.5304G>T (p.Lys1768Asn)
c.5373G>T (p.Lys1791Asn)
c.5001G>T (p.Lys1667Asn)
c.5157G>T (p.Lys1719Asn)
c.5364G>T (p.Lys1788Asn)
c.4665G>T (p.Lys1555Asn)
c.5412G>T (p.Lys1804Asn)
16g.3729629C=CA2202916473CREBBPc.5418G= (p.Lys1806=)
c.5304G= (p.Lys1768=)
c.5373G= (p.Lys1791=)
c.5001G= (p.Lys1667=)
c.5157G= (p.Lys1719=)
c.5364G= (p.Lys1788=)
c.4665G= (p.Lys1555=)
c.5412G= (p.Lys1804=)
16g.3729629C>GCA394556481CREBBPc.5418G>C (p.Lys1806Asn)
c.5304G>C (p.Lys1768Asn)
c.5373G>C (p.Lys1791Asn)
c.5001G>C (p.Lys1667Asn)
c.5157G>C (p.Lys1719Asn)
c.5364G>C (p.Lys1788Asn)
c.4665G>C (p.Lys1555Asn)
c.5412G>C (p.Lys1804Asn)
COSMIC
16g.3729629C>TCA276972251CREBBPc.5418G>A (p.Lys1806=)
c.5304G>A (p.Lys1768=)
c.5373G>A (p.Lys1791=)
c.5001G>A (p.Lys1667=)
c.5157G>A (p.Lys1719=)
c.5364G>A (p.Lys1788=)
c.4665G>A (p.Lys1555=)
c.5412G>A (p.Lys1804=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729630T>ACA394556484CREBBPc.5417A>T (p.Lys1806Met)
c.5303A>T (p.Lys1768Met)
c.5372A>T (p.Lys1791Met)
c.5000A>T (p.Lys1667Met)
c.5156A>T (p.Lys1719Met)
c.5363A>T (p.Lys1788Met)
c.4664A>T (p.Lys1555Met)
c.5411A>T (p.Lys1804Met)
dbSNP
16g.3729630T>CCA394556486CREBBPc.5417A>G (p.Lys1806Arg)
c.5303A>G (p.Lys1768Arg)
c.5372A>G (p.Lys1791Arg)
c.5000A>G (p.Lys1667Arg)
c.5156A>G (p.Lys1719Arg)
c.5363A>G (p.Lys1788Arg)
c.4664A>G (p.Lys1555Arg)
c.5411A>G (p.Lys1804Arg)
dbSNP gnomAD v4
16g.3729630T>GCA394556488CREBBPc.5417A>C (p.Lys1806Thr)
c.5303A>C (p.Lys1768Thr)
c.5372A>C (p.Lys1791Thr)
c.5000A>C (p.Lys1667Thr)
c.5156A>C (p.Lys1719Thr)
c.5363A>C (p.Lys1788Thr)
c.4664A>C (p.Lys1555Thr)
c.5411A>C (p.Lys1804Thr)
16g.3729631T>ACA394556494CREBBPc.5416A>T (p.Lys1806Ter)
c.5302A>T (p.Lys1768Ter)
c.5371A>T (p.Lys1791Ter)
c.4999A>T (p.Lys1667Ter)
c.5155A>T (p.Lys1719Ter)
c.5362A>T (p.Lys1788Ter)
c.4663A>T (p.Lys1555Ter)
c.5410A>T (p.Lys1804Ter)
16g.3729631T>CCA394556492CREBBPc.5416A>G (p.Lys1806Glu)
c.5302A>G (p.Lys1768Glu)
c.5371A>G (p.Lys1791Glu)
c.4999A>G (p.Lys1667Glu)
c.5155A>G (p.Lys1719Glu)
c.5362A>G (p.Lys1788Glu)
c.4663A>G (p.Lys1555Glu)
c.5410A>G (p.Lys1804Glu)
16g.3729631T>GCA394556490CREBBPc.5416A>C (p.Lys1806Gln)
c.5302A>C (p.Lys1768Gln)
c.5371A>C (p.Lys1791Gln)
c.4999A>C (p.Lys1667Gln)
c.5155A>C (p.Lys1719Gln)
c.5362A>C (p.Lys1788Gln)
c.4663A>C (p.Lys1555Gln)
c.5410A>C (p.Lys1804Gln)
16g.3729632G>ACA493394384CREBBPc.5415C>T (p.Thr1805=)
c.5301C>T (p.Thr1767=)
c.5370C>T (p.Thr1790=)
c.4998C>T (p.Thr1666=)
c.5154C>T (p.Thr1718=)
c.5361C>T (p.Thr1787=)
c.4662C>T (p.Thr1554=)
c.5409C>T (p.Thr1803=)
ClinVar dbSNP
16g.3729632G>CCA493394383CREBBPc.5415C>G (p.Thr1805=)
c.5301C>G (p.Thr1767=)
c.5370C>G (p.Thr1790=)
c.4998C>G (p.Thr1666=)
c.5154C>G (p.Thr1718=)
c.5361C>G (p.Thr1787=)
c.4662C>G (p.Thr1554=)
c.5409C>G (p.Thr1803=)
dbSNP
16g.3729632G>TCA493394382CREBBPc.5415C>A (p.Thr1805=)
c.5301C>A (p.Thr1767=)
c.5370C>A (p.Thr1790=)
c.4998C>A (p.Thr1666=)
c.5154C>A (p.Thr1718=)
c.5361C>A (p.Thr1787=)
c.4662C>A (p.Thr1554=)
c.5409C>A (p.Thr1803=)
dbSNP gnomAD v4
16g.3729633G>ACA394556497CREBBPc.5414C>T (p.Thr1805Ile)
c.5300C>T (p.Thr1767Ile)
c.5369C>T (p.Thr1790Ile)
c.4997C>T (p.Thr1666Ile)
c.5153C>T (p.Thr1718Ile)
c.5360C>T (p.Thr1787Ile)
c.4661C>T (p.Thr1554Ile)
c.5408C>T (p.Thr1803Ile)
dbSNP
16g.3729633G>CCA394556498CREBBPc.5414C>G (p.Thr1805Ser)
c.5300C>G (p.Thr1767Ser)
c.5369C>G (p.Thr1790Ser)
c.4997C>G (p.Thr1666Ser)
c.5153C>G (p.Thr1718Ser)
c.5360C>G (p.Thr1787Ser)
c.4661C>G (p.Thr1554Ser)
c.5408C>G (p.Thr1803Ser)
dbSNP gnomAD v4
16g.3729633G>TCA394556500CREBBPc.5414C>A (p.Thr1805Asn)
c.5300C>A (p.Thr1767Asn)
c.5369C>A (p.Thr1790Asn)
c.4997C>A (p.Thr1666Asn)
c.5153C>A (p.Thr1718Asn)
c.5360C>A (p.Thr1787Asn)
c.4661C>A (p.Thr1554Asn)
c.5408C>A (p.Thr1803Asn)
16g.3729634T>ACA394556504CREBBPc.5413A>T (p.Thr1805Ser)
c.5299A>T (p.Thr1767Ser)
c.5368A>T (p.Thr1790Ser)
c.4996A>T (p.Thr1666Ser)
c.5152A>T (p.Thr1718Ser)
c.5359A>T (p.Thr1787Ser)
c.4660A>T (p.Thr1554Ser)
c.5407A>T (p.Thr1803Ser)
dbSNP
16g.3729634T>CCA394556505CREBBPc.5413A>G (p.Thr1805Ala)
c.5299A>G (p.Thr1767Ala)
c.5368A>G (p.Thr1790Ala)
c.4996A>G (p.Thr1666Ala)
c.5152A>G (p.Thr1718Ala)
c.5359A>G (p.Thr1787Ala)
c.4660A>G (p.Thr1554Ala)
c.5407A>G (p.Thr1803Ala)
16g.3729634T>GCA394556507CREBBPc.5413A>C (p.Thr1805Pro)
c.5299A>C (p.Thr1767Pro)
c.5368A>C (p.Thr1790Pro)
c.4996A>C (p.Thr1666Pro)
c.5152A>C (p.Thr1718Pro)
c.5359A>C (p.Thr1787Pro)
c.4660A>C (p.Thr1554Pro)
c.5407A>C (p.Thr1803Pro)
dbSNP
16g.3729635G>ACA493394385CREBBPc.5412C>T (p.His1804=)
c.5298C>T (p.His1766=)
c.5367C>T (p.His1789=)
c.4995C>T (p.His1665=)
c.5151C>T (p.His1717=)
c.5358C>T (p.His1786=)
c.4659C>T (p.His1553=)
c.5406C>T (p.His1802=)
dbSNP gnomAD v3 gnomAD v4
16g.3729635G>CCA394556509CREBBPc.5412C>G (p.His1804Gln)
c.5298C>G (p.His1766Gln)
c.5367C>G (p.His1789Gln)
c.4995C>G (p.His1665Gln)
c.5151C>G (p.His1717Gln)
c.5358C>G (p.His1786Gln)
c.4659C>G (p.His1553Gln)
c.5406C>G (p.His1802Gln)
16g.3729635G=CA2202916474CREBBPc.5412C= (p.His1804=)
c.5298C= (p.His1766=)
c.5367C= (p.His1789=)
c.4995C= (p.His1665=)
c.5151C= (p.His1717=)
c.5358C= (p.His1786=)
c.4659C= (p.His1553=)
c.5406C= (p.His1802=)
16g.3729635G>TCA277274CREBBPc.5412C>A (p.His1804Gln)
c.5298C>A (p.His1766Gln)
c.5367C>A (p.His1789Gln)
c.4995C>A (p.His1665Gln)
c.5151C>A (p.His1717Gln)
c.5358C>A (p.His1786Gln)
c.4659C>A (p.His1553Gln)
c.5406C>A (p.His1802Gln)
ClinVar dbSNP
16g.3729636T>ACA394556510CREBBPc.5411A>T (p.His1804Leu)
c.5297A>T (p.His1766Leu)
c.5366A>T (p.His1789Leu)
c.4994A>T (p.His1665Leu)
c.5150A>T (p.His1717Leu)
c.5357A>T (p.His1786Leu)
c.4658A>T (p.His1553Leu)
c.5405A>T (p.His1802Leu)
dbSNP
16g.3729636T>CCA394556511CREBBPc.5411A>G (p.His1804Arg)
c.5297A>G (p.His1766Arg)
c.5366A>G (p.His1789Arg)
c.4994A>G (p.His1665Arg)
c.5150A>G (p.His1717Arg)
c.5357A>G (p.His1786Arg)
c.4658A>G (p.His1553Arg)
c.5405A>G (p.His1802Arg)
dbSNP
16g.3729636T>GCA394556512CREBBPc.5411A>C (p.His1804Pro)
c.5297A>C (p.His1766Pro)
c.5366A>C (p.His1789Pro)
c.4994A>C (p.His1665Pro)
c.5150A>C (p.His1717Pro)
c.5357A>C (p.His1786Pro)
c.4658A>C (p.His1553Pro)
c.5405A>C (p.His1802Pro)
dbSNP
16g.3729637G>ACA394556518CREBBPc.5410C>T (p.His1804Tyr)
c.5296C>T (p.His1766Tyr)
c.5365C>T (p.His1789Tyr)
c.4993C>T (p.His1665Tyr)
c.5149C>T (p.His1717Tyr)
c.5356C>T (p.His1786Tyr)
c.4657C>T (p.His1553Tyr)
c.5404C>T (p.His1802Tyr)
dbSNP COSMIC
16g.3729637G>CCA394556516CREBBPc.5410C>G (p.His1804Asp)
c.5296C>G (p.His1766Asp)
c.5365C>G (p.His1789Asp)
c.4993C>G (p.His1665Asp)
c.5149C>G (p.His1717Asp)
c.5356C>G (p.His1786Asp)
c.4657C>G (p.His1553Asp)
c.5404C>G (p.His1802Asp)
dbSNP
16g.3729637G>TCA394556514CREBBPc.5410C>A (p.His1804Asn)
c.5296C>A (p.His1766Asn)
c.5365C>A (p.His1789Asn)
c.4993C>A (p.His1665Asn)
c.5149C>A (p.His1717Asn)
c.5356C>A (p.His1786Asn)
c.4657C>A (p.His1553Asn)
c.5404C>A (p.His1802Asn)
dbSNP
16g.3729638C>ACA394556520CREBBPc.5409G>T (p.Gln1803His)
c.5295G>T (p.Gln1765His)
c.5364G>T (p.Gln1788His)
c.4992G>T (p.Gln1664His)
c.5148G>T (p.Gln1716His)
c.5355G>T (p.Gln1785His)
c.4656G>T (p.Gln1552His)
c.5403G>T (p.Gln1801His)
16g.3729638C>GCA394556522CREBBPc.5409G>C (p.Gln1803His)
c.5295G>C (p.Gln1765His)
c.5364G>C (p.Gln1788His)
c.4992G>C (p.Gln1664His)
c.5148G>C (p.Gln1716His)
c.5355G>C (p.Gln1785His)
c.4656G>C (p.Gln1552His)
c.5403G>C (p.Gln1801His)
16g.3729638C>TCA493394386CREBBPc.5409G>A (p.Gln1803=)
c.5295G>A (p.Gln1765=)
c.5364G>A (p.Gln1788=)
c.4992G>A (p.Gln1664=)
c.5148G>A (p.Gln1716=)
c.5355G>A (p.Gln1785=)
c.4656G>A (p.Gln1552=)
c.5403G>A (p.Gln1801=)
16g.3729639T>ACA394556524CREBBPc.5408A>T (p.Gln1803Leu)
c.5294A>T (p.Gln1765Leu)
c.5363A>T (p.Gln1788Leu)
c.4991A>T (p.Gln1664Leu)
c.5147A>T (p.Gln1716Leu)
c.5354A>T (p.Gln1785Leu)
c.4655A>T (p.Gln1552Leu)
c.5402A>T (p.Gln1801Leu)
dbSNP
16g.3729639T>CCA394556525CREBBPc.5408A>G (p.Gln1803Arg)
c.5294A>G (p.Gln1765Arg)
c.5363A>G (p.Gln1788Arg)
c.4991A>G (p.Gln1664Arg)
c.5147A>G (p.Gln1716Arg)
c.5354A>G (p.Gln1785Arg)
c.4655A>G (p.Gln1552Arg)
c.5402A>G (p.Gln1801Arg)
dbSNP COSMIC
16g.3729639T>GCA394556527CREBBPc.5408A>C (p.Gln1803Pro)
c.5294A>C (p.Gln1765Pro)
c.5363A>C (p.Gln1788Pro)
c.4991A>C (p.Gln1664Pro)
c.5147A>C (p.Gln1716Pro)
c.5354A>C (p.Gln1785Pro)
c.4655A>C (p.Gln1552Pro)
c.5402A>C (p.Gln1801Pro)
dbSNP
16g.3729640G>ACA394556529CREBBPc.5407C>T (p.Gln1803Ter)
c.5293C>T (p.Gln1765Ter)
c.5362C>T (p.Gln1788Ter)
c.4990C>T (p.Gln1664Ter)
c.5146C>T (p.Gln1716Ter)
c.5353C>T (p.Gln1785Ter)
c.4654C>T (p.Gln1552Ter)
c.5401C>T (p.Gln1801Ter)
16g.3729640G>CCA394556531CREBBPc.5407C>G (p.Gln1803Glu)
c.5293C>G (p.Gln1765Glu)
c.5362C>G (p.Gln1788Glu)
c.4990C>G (p.Gln1664Glu)
c.5146C>G (p.Gln1716Glu)
c.5353C>G (p.Gln1785Glu)
c.4654C>G (p.Gln1552Glu)
c.5401C>G (p.Gln1801Glu)
16g.3729640G>TCA394556533CREBBPc.5407C>A (p.Gln1803Lys)
c.5293C>A (p.Gln1765Lys)
c.5362C>A (p.Gln1788Lys)
c.4990C>A (p.Gln1664Lys)
c.5146C>A (p.Gln1716Lys)
c.5353C>A (p.Gln1785Lys)
c.4654C>A (p.Gln1552Lys)
c.5401C>A (p.Gln1801Lys)
16g.3729641C>ACA493394387CREBBPc.5406G>T (p.Val1802=)
c.5292G>T (p.Val1764=)
c.5361G>T (p.Val1787=)
c.4989G>T (p.Val1663=)
c.5145G>T (p.Val1715=)
c.5352G>T (p.Val1784=)
c.4653G>T (p.Val1551=)
c.5400G>T (p.Val1800=)
dbSNP gnomAD v4
16g.3729641C=CA2202916475CREBBPc.5406G= (p.Val1802=)
c.5292G= (p.Val1764=)
c.5361G= (p.Val1787=)
c.4989G= (p.Val1663=)
c.5145G= (p.Val1715=)
c.5352G= (p.Val1784=)
c.4653G= (p.Val1551=)
c.5400G= (p.Val1800=)
16g.3729641C>GCA493394388CREBBPc.5406G>C (p.Val1802=)
c.5292G>C (p.Val1764=)
c.5361G>C (p.Val1787=)
c.4989G>C (p.Val1663=)
c.5145G>C (p.Val1715=)
c.5352G>C (p.Val1784=)
c.4653G>C (p.Val1551=)
c.5400G>C (p.Val1800=)
dbSNP COSMIC
16g.3729641C>TCA7869282CREBBPc.5406G>A (p.Val1802=)
c.5292G>A (p.Val1764=)
c.5361G>A (p.Val1787=)
c.4989G>A (p.Val1663=)
c.5145G>A (p.Val1715=)
c.5352G>A (p.Val1784=)
c.4653G>A (p.Val1551=)
c.5400G>A (p.Val1800=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729642A>CCA394556536CREBBPc.5405T>G (p.Val1802Gly)
c.5291T>G (p.Val1764Gly)
c.5360T>G (p.Val1787Gly)
c.4988T>G (p.Val1663Gly)
c.5144T>G (p.Val1715Gly)
c.5351T>G (p.Val1784Gly)
c.4652T>G (p.Val1551Gly)
c.5399T>G (p.Val1800Gly)
gnomAD v4
16g.3729642A>GCA394556538CREBBPc.5405T>C (p.Val1802Ala)
c.5291T>C (p.Val1764Ala)
c.5360T>C (p.Val1787Ala)
c.4988T>C (p.Val1663Ala)
c.5144T>C (p.Val1715Ala)
c.5351T>C (p.Val1784Ala)
c.4652T>C (p.Val1551Ala)
c.5399T>C (p.Val1800Ala)
16g.3729642A>TCA394556540CREBBPc.5405T>A (p.Val1802Glu)
c.5291T>A (p.Val1764Glu)
c.5360T>A (p.Val1787Glu)
c.4988T>A (p.Val1663Glu)
c.5144T>A (p.Val1715Glu)
c.5351T>A (p.Val1784Glu)
c.4652T>A (p.Val1551Glu)
c.5399T>A (p.Val1800Glu)
16g.3729643C>ACA394556546CREBBPc.5404G>T (p.Val1802Leu)
c.5290G>T (p.Val1764Leu)
c.5359G>T (p.Val1787Leu)
c.4987G>T (p.Val1663Leu)
c.5143G>T (p.Val1715Leu)
c.5350G>T (p.Val1784Leu)
c.4651G>T (p.Val1551Leu)
c.5398G>T (p.Val1800Leu)
dbSNP
16g.3729643C>GCA394556544CREBBPc.5404G>C (p.Val1802Leu)
c.5290G>C (p.Val1764Leu)
c.5359G>C (p.Val1787Leu)
c.4987G>C (p.Val1663Leu)
c.5143G>C (p.Val1715Leu)
c.5350G>C (p.Val1784Leu)
c.4651G>C (p.Val1551Leu)
c.5398G>C (p.Val1800Leu)
dbSNP
16g.3729643C>TCA394556542CREBBPc.5404G>A (p.Val1802Met)
c.5290G>A (p.Val1764Met)
c.5359G>A (p.Val1787Met)
c.4987G>A (p.Val1663Met)
c.5143G>A (p.Val1715Met)
c.5350G>A (p.Val1784Met)
c.4651G>A (p.Val1551Met)
c.5398G>A (p.Val1800Met)
ClinVar dbSNP gnomAD v4 COSMIC
16g.3729644C>ACA493394389CREBBPc.5403G>T (p.Val1801=)
c.5289G>T (p.Val1763=)
c.5358G>T (p.Val1786=)
c.4986G>T (p.Val1662=)
c.5142G>T (p.Val1714=)
c.5349G>T (p.Val1783=)
c.4650G>T (p.Val1550=)
c.5397G>T (p.Val1799=)
ClinVar dbSNP
16g.3729644C=CA2202916476CREBBPc.5403G= (p.Val1801=)
c.5289G= (p.Val1763=)
c.5358G= (p.Val1786=)
c.4986G= (p.Val1662=)
c.5142G= (p.Val1714=)
c.5349G= (p.Val1783=)
c.4650G= (p.Val1550=)
c.5397G= (p.Val1799=)
16g.3729644C>GCA493394390CREBBPc.5403G>C (p.Val1801=)
c.5289G>C (p.Val1763=)
c.5358G>C (p.Val1786=)
c.4986G>C (p.Val1662=)
c.5142G>C (p.Val1714=)
c.5349G>C (p.Val1783=)
c.4650G>C (p.Val1550=)
c.5397G>C (p.Val1799=)
dbSNP
16g.3729644C>TCA7869283CREBBPc.5403G>A (p.Val1801=)
c.5289G>A (p.Val1763=)
c.5358G>A (p.Val1786=)
c.4986G>A (p.Val1662=)
c.5142G>A (p.Val1714=)
c.5349G>A (p.Val1783=)
c.4650G>A (p.Val1550=)
c.5397G>A (p.Val1799=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729645A>CCA394556554CREBBPc.5402T>G (p.Val1801Gly)
c.5288T>G (p.Val1763Gly)
c.5357T>G (p.Val1786Gly)
c.4985T>G (p.Val1662Gly)
c.5141T>G (p.Val1714Gly)
c.5348T>G (p.Val1783Gly)
c.4649T>G (p.Val1550Gly)
c.5396T>G (p.Val1799Gly)
dbSNP
16g.3729645A>GCA394556550CREBBPc.5402T>C (p.Val1801Ala)
c.5288T>C (p.Val1763Ala)
c.5357T>C (p.Val1786Ala)
c.4985T>C (p.Val1662Ala)
c.5141T>C (p.Val1714Ala)
c.5348T>C (p.Val1783Ala)
c.4649T>C (p.Val1550Ala)
c.5396T>C (p.Val1799Ala)
dbSNP
16g.3729645A>TCA394556552CREBBPc.5402T>A (p.Val1801Glu)
c.5288T>A (p.Val1763Glu)
c.5357T>A (p.Val1786Glu)
c.4985T>A (p.Val1662Glu)
c.5141T>A (p.Val1714Glu)
c.5348T>A (p.Val1783Glu)
c.4649T>A (p.Val1550Glu)
c.5396T>A (p.Val1799Glu)
dbSNP
16g.3729646C>ACA394556557CREBBPc.5401G>T (p.Val1801Leu)
c.5287G>T (p.Val1763Leu)
c.5356G>T (p.Val1786Leu)
c.4984G>T (p.Val1662Leu)
c.5140G>T (p.Val1714Leu)
c.5347G>T (p.Val1783Leu)
c.4648G>T (p.Val1550Leu)
c.5395G>T (p.Val1799Leu)
dbSNP
16g.3729646C>GCA394556559CREBBPc.5401G>C (p.Val1801Leu)
c.5287G>C (p.Val1763Leu)
c.5356G>C (p.Val1786Leu)
c.4984G>C (p.Val1662Leu)
c.5140G>C (p.Val1714Leu)
c.5347G>C (p.Val1783Leu)
c.4648G>C (p.Val1550Leu)
c.5395G>C (p.Val1799Leu)
dbSNP
16g.3729646C>TCA394556560CREBBPc.5401G>A (p.Val1801Met)
c.5287G>A (p.Val1763Met)
c.5356G>A (p.Val1786Met)
c.4984G>A (p.Val1662Met)
c.5140G>A (p.Val1714Met)
c.5347G>A (p.Val1783Met)
c.4648G>A (p.Val1550Met)
c.5395G>A (p.Val1799Met)
dbSNP
16g.3729647C>ACA493394391CREBBPc.5400G>T (p.Arg1800=)
c.5286G>T (p.Arg1762=)
c.5355G>T (p.Arg1785=)
c.4983G>T (p.Arg1661=)
c.5139G>T (p.Arg1713=)
c.5346G>T (p.Arg1782=)
c.4647G>T (p.Arg1549=)
c.5394G>T (p.Arg1798=)
dbSNP
16g.3729647C=CA2202916477CREBBPc.5400G= (p.Arg1800=)
c.5286G= (p.Arg1762=)
c.5355G= (p.Arg1785=)
c.4983G= (p.Arg1661=)
c.5139G= (p.Arg1713=)
c.5346G= (p.Arg1782=)
c.4647G= (p.Arg1549=)
c.5394G= (p.Arg1798=)
16g.3729647C>GCA493394392CREBBPc.5400G>C (p.Arg1800=)
c.5286G>C (p.Arg1762=)
c.5355G>C (p.Arg1785=)
c.4983G>C (p.Arg1661=)
c.5139G>C (p.Arg1713=)
c.5346G>C (p.Arg1782=)
c.4647G>C (p.Arg1549=)
c.5394G>C (p.Arg1798=)
dbSNP
16g.3729647C>TCA493394393CREBBPc.5400G>A (p.Arg1800=)
c.5286G>A (p.Arg1762=)
c.5355G>A (p.Arg1785=)
c.4983G>A (p.Arg1661=)
c.5139G>A (p.Arg1713=)
c.5346G>A (p.Arg1782=)
c.4647G>A (p.Arg1549=)
c.5394G>A (p.Arg1798=)
dbSNP
16g.3729648C>ACA394556562CREBBPc.5399G>T (p.Arg1800Leu)
c.5285G>T (p.Arg1762Leu)
c.5354G>T (p.Arg1785Leu)
c.4982G>T (p.Arg1661Leu)
c.5138G>T (p.Arg1713Leu)
c.5345G>T (p.Arg1782Leu)
c.4646G>T (p.Arg1549Leu)
c.5393G>T (p.Arg1798Leu)
dbSNP
16g.3729648C>GCA394556564CREBBPc.5399G>C (p.Arg1800Pro)
c.5285G>C (p.Arg1762Pro)
c.5354G>C (p.Arg1785Pro)
c.4982G>C (p.Arg1661Pro)
c.5138G>C (p.Arg1713Pro)
c.5345G>C (p.Arg1782Pro)
c.4646G>C (p.Arg1549Pro)
c.5393G>C (p.Arg1798Pro)
dbSNP
16g.3729648C>TCA394556566CREBBPc.5399G>A (p.Arg1800Gln)
c.5285G>A (p.Arg1762Gln)
c.5354G>A (p.Arg1785Gln)
c.4982G>A (p.Arg1661Gln)
c.5138G>A (p.Arg1713Gln)
c.5345G>A (p.Arg1782Gln)
c.4646G>A (p.Arg1549Gln)
c.5393G>A (p.Arg1798Gln)
dbSNP COSMIC

Number of alleles fetched