Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3729728C>ACA394557193CREBBPc.5319G>T (p.Gln1773His)
c.5205G>T (p.Gln1735His)
c.5274G>T (p.Gln1758His)
c.4902G>T (p.Gln1634His)
c.5058G>T (p.Gln1686His)
c.5265G>T (p.Gln1755His)
c.4566G>T (p.Gln1522His)
c.5313G>T (p.Gln1771His)
16g.3729728C=CA2202916510CREBBPc.5319G= (p.Gln1773=)
c.5205G= (p.Gln1735=)
c.5274G= (p.Gln1758=)
c.4902G= (p.Gln1634=)
c.5058G= (p.Gln1686=)
c.5265G= (p.Gln1755=)
c.4566G= (p.Gln1522=)
c.5313G= (p.Gln1771=)
16g.3729728C>GCA394557192CREBBPc.5319G>C (p.Gln1773His)
c.5205G>C (p.Gln1735His)
c.5274G>C (p.Gln1758His)
c.4902G>C (p.Gln1634His)
c.5058G>C (p.Gln1686His)
c.5265G>C (p.Gln1755His)
c.4566G>C (p.Gln1522His)
c.5313G>C (p.Gln1771His)
dbSNP
16g.3729728C>TCA493394213CREBBPc.5319G>A (p.Gln1773=)
c.5205G>A (p.Gln1735=)
c.5274G>A (p.Gln1758=)
c.4902G>A (p.Gln1634=)
c.5058G>A (p.Gln1686=)
c.5265G>A (p.Gln1755=)
c.4566G>A (p.Gln1522=)
c.5313G>A (p.Gln1771=)
dbSNP gnomAD v4
16g.3729729T>ACA394557195CREBBPc.5318A>T (p.Gln1773Leu)
c.5204A>T (p.Gln1735Leu)
c.5273A>T (p.Gln1758Leu)
c.4901A>T (p.Gln1634Leu)
c.5057A>T (p.Gln1686Leu)
c.5264A>T (p.Gln1755Leu)
c.4565A>T (p.Gln1522Leu)
c.5312A>T (p.Gln1771Leu)
16g.3729729T>CCA394557197CREBBPc.5318A>G (p.Gln1773Arg)
c.5204A>G (p.Gln1735Arg)
c.5273A>G (p.Gln1758Arg)
c.4901A>G (p.Gln1634Arg)
c.5057A>G (p.Gln1686Arg)
c.5264A>G (p.Gln1755Arg)
c.4565A>G (p.Gln1522Arg)
c.5312A>G (p.Gln1771Arg)
16g.3729729T>GCA394557199CREBBPc.5318A>C (p.Gln1773Pro)
c.5204A>C (p.Gln1735Pro)
c.5273A>C (p.Gln1758Pro)
c.4901A>C (p.Gln1634Pro)
c.5057A>C (p.Gln1686Pro)
c.5264A>C (p.Gln1755Pro)
c.4565A>C (p.Gln1522Pro)
c.5312A>C (p.Gln1771Pro)
16g.3729730G>ACA394557201CREBBPc.5317C>T (p.Gln1773Ter)
c.5203C>T (p.Gln1735Ter)
c.5272C>T (p.Gln1758Ter)
c.4900C>T (p.Gln1634Ter)
c.5056C>T (p.Gln1686Ter)
c.5263C>T (p.Gln1755Ter)
c.4564C>T (p.Gln1522Ter)
c.5311C>T (p.Gln1771Ter)
16g.3729730G>CCA394557203CREBBPc.5317C>G (p.Gln1773Glu)
c.5203C>G (p.Gln1735Glu)
c.5272C>G (p.Gln1758Glu)
c.4900C>G (p.Gln1634Glu)
c.5056C>G (p.Gln1686Glu)
c.5263C>G (p.Gln1755Glu)
c.4564C>G (p.Gln1522Glu)
c.5311C>G (p.Gln1771Glu)
16g.3729730G>TCA394557205CREBBPc.5317C>A (p.Gln1773Lys)
c.5203C>A (p.Gln1735Lys)
c.5272C>A (p.Gln1758Lys)
c.4900C>A (p.Gln1634Lys)
c.5056C>A (p.Gln1686Lys)
c.5263C>A (p.Gln1755Lys)
c.4564C>A (p.Gln1522Lys)
c.5311C>A (p.Gln1771Lys)
16g.3729731G>ACA493394217CREBBPc.5316C>T (p.Ile1772=)
c.5202C>T (p.Ile1734=)
c.5271C>T (p.Ile1757=)
c.4899C>T (p.Ile1633=)
c.5055C>T (p.Ile1685=)
c.5262C>T (p.Ile1754=)
c.4563C>T (p.Ile1521=)
c.5310C>T (p.Ile1770=)
16g.3729731G>CCA394557207CREBBPc.5316C>G (p.Ile1772Met)
c.5202C>G (p.Ile1734Met)
c.5271C>G (p.Ile1757Met)
c.4899C>G (p.Ile1633Met)
c.5055C>G (p.Ile1685Met)
c.5262C>G (p.Ile1754Met)
c.4563C>G (p.Ile1521Met)
c.5310C>G (p.Ile1770Met)
16g.3729731G>TCA493394218CREBBPc.5316C>A (p.Ile1772=)
c.5202C>A (p.Ile1734=)
c.5271C>A (p.Ile1757=)
c.4899C>A (p.Ile1633=)
c.5055C>A (p.Ile1685=)
c.5262C>A (p.Ile1754=)
c.4563C>A (p.Ile1521=)
c.5310C>A (p.Ile1770=)
gnomAD v4
16g.3729732A>CCA394557213CREBBPc.5315T>G (p.Ile1772Ser)
c.5201T>G (p.Ile1734Ser)
c.5270T>G (p.Ile1757Ser)
c.4898T>G (p.Ile1633Ser)
c.5054T>G (p.Ile1685Ser)
c.5261T>G (p.Ile1754Ser)
c.4562T>G (p.Ile1521Ser)
c.5309T>G (p.Ile1770Ser)
dbSNP
16g.3729732A>GCA394557209CREBBPc.5315T>C (p.Ile1772Thr)
c.5201T>C (p.Ile1734Thr)
c.5270T>C (p.Ile1757Thr)
c.4898T>C (p.Ile1633Thr)
c.5054T>C (p.Ile1685Thr)
c.5261T>C (p.Ile1754Thr)
c.4562T>C (p.Ile1521Thr)
c.5309T>C (p.Ile1770Thr)
dbSNP
16g.3729732A>TCA394557211CREBBPc.5315T>A (p.Ile1772Asn)
c.5201T>A (p.Ile1734Asn)
c.5270T>A (p.Ile1757Asn)
c.4898T>A (p.Ile1633Asn)
c.5054T>A (p.Ile1685Asn)
c.5261T>A (p.Ile1754Asn)
c.4562T>A (p.Ile1521Asn)
c.5309T>A (p.Ile1770Asn)
ClinVar dbSNP
16g.3729733T>ACA394557215CREBBPc.5314A>T (p.Ile1772Phe)
c.5200A>T (p.Ile1734Phe)
c.5269A>T (p.Ile1757Phe)
c.4897A>T (p.Ile1633Phe)
c.5053A>T (p.Ile1685Phe)
c.5260A>T (p.Ile1754Phe)
c.4561A>T (p.Ile1521Phe)
c.5308A>T (p.Ile1770Phe)
dbSNP
16g.3729733T>CCA394557217CREBBPc.5314A>G (p.Ile1772Val)
c.5200A>G (p.Ile1734Val)
c.5269A>G (p.Ile1757Val)
c.4897A>G (p.Ile1633Val)
c.5053A>G (p.Ile1685Val)
c.5260A>G (p.Ile1754Val)
c.4561A>G (p.Ile1521Val)
c.5308A>G (p.Ile1770Val)
16g.3729733T>GCA394557219CREBBPc.5314A>C (p.Ile1772Leu)
c.5200A>C (p.Ile1734Leu)
c.5269A>C (p.Ile1757Leu)
c.4897A>C (p.Ile1633Leu)
c.5053A>C (p.Ile1685Leu)
c.5260A>C (p.Ile1754Leu)
c.4561A>C (p.Ile1521Leu)
c.5308A>C (p.Ile1770Leu)
dbSNP
16g.3729734G>ACA493394219CREBBPc.5313C>T (p.Ser1771=)
c.5199C>T (p.Ser1733=)
c.5268C>T (p.Ser1756=)
c.4896C>T (p.Ser1632=)
c.5052C>T (p.Ser1684=)
c.5259C>T (p.Ser1753=)
c.4560C>T (p.Ser1520=)
c.5307C>T (p.Ser1769=)
dbSNP gnomAD v4
16g.3729734G>CCA394557221CREBBPc.5313C>G (p.Ser1771Arg)
c.5199C>G (p.Ser1733Arg)
c.5268C>G (p.Ser1756Arg)
c.4896C>G (p.Ser1632Arg)
c.5052C>G (p.Ser1684Arg)
c.5259C>G (p.Ser1753Arg)
c.4560C>G (p.Ser1520Arg)
c.5307C>G (p.Ser1769Arg)
dbSNP
16g.3729734G>TCA394557223CREBBPc.5313C>A (p.Ser1771Arg)
c.5199C>A (p.Ser1733Arg)
c.5268C>A (p.Ser1756Arg)
c.4896C>A (p.Ser1632Arg)
c.5052C>A (p.Ser1684Arg)
c.5259C>A (p.Ser1753Arg)
c.4560C>A (p.Ser1520Arg)
c.5307C>A (p.Ser1769Arg)
16g.3729735C>ACA394557225CREBBPc.5312G>T (p.Ser1771Ile)
c.5198G>T (p.Ser1733Ile)
c.5267G>T (p.Ser1756Ile)
c.4895G>T (p.Ser1632Ile)
c.5051G>T (p.Ser1684Ile)
c.5258G>T (p.Ser1753Ile)
c.4559G>T (p.Ser1520Ile)
c.5306G>T (p.Ser1769Ile)
16g.3729735C>GCA394557228CREBBPc.5312G>C (p.Ser1771Thr)
c.5198G>C (p.Ser1733Thr)
c.5267G>C (p.Ser1756Thr)
c.4895G>C (p.Ser1632Thr)
c.5051G>C (p.Ser1684Thr)
c.5258G>C (p.Ser1753Thr)
c.4559G>C (p.Ser1520Thr)
c.5306G>C (p.Ser1769Thr)
dbSNP
16g.3729735C>TCA394557226CREBBPc.5312G>A (p.Ser1771Asn)
c.5198G>A (p.Ser1733Asn)
c.5267G>A (p.Ser1756Asn)
c.4895G>A (p.Ser1632Asn)
c.5051G>A (p.Ser1684Asn)
c.5258G>A (p.Ser1753Asn)
c.4559G>A (p.Ser1520Asn)
c.5306G>A (p.Ser1769Asn)
dbSNP gnomAD v4
16g.3729736T>ACA394557229CREBBPc.5311A>T (p.Ser1771Cys)
c.5197A>T (p.Ser1733Cys)
c.5266A>T (p.Ser1756Cys)
c.4894A>T (p.Ser1632Cys)
c.5050A>T (p.Ser1684Cys)
c.5257A>T (p.Ser1753Cys)
c.4558A>T (p.Ser1520Cys)
c.5305A>T (p.Ser1769Cys)
dbSNP
16g.3729736T>CCA394557231CREBBPc.5311A>G (p.Ser1771Gly)
c.5197A>G (p.Ser1733Gly)
c.5266A>G (p.Ser1756Gly)
c.4894A>G (p.Ser1632Gly)
c.5050A>G (p.Ser1684Gly)
c.5257A>G (p.Ser1753Gly)
c.4558A>G (p.Ser1520Gly)
c.5305A>G (p.Ser1769Gly)
dbSNP
16g.3729736T>GCA394557233CREBBPc.5311A>C (p.Ser1771Arg)
c.5197A>C (p.Ser1733Arg)
c.5266A>C (p.Ser1756Arg)
c.4894A>C (p.Ser1632Arg)
c.5050A>C (p.Ser1684Arg)
c.5257A>C (p.Ser1753Arg)
c.4558A>C (p.Ser1520Arg)
c.5305A>C (p.Ser1769Arg)
dbSNP
16g.3729737C>ACA493394223CREBBPc.5310G>T (p.Leu1770=)
c.5196G>T (p.Leu1732=)
c.5265G>T (p.Leu1755=)
c.4893G>T (p.Leu1631=)
c.5049G>T (p.Leu1683=)
c.5256G>T (p.Leu1752=)
c.4557G>T (p.Leu1519=)
c.5304G>T (p.Leu1768=)
dbSNP gnomAD v4
16g.3729737C=CA2202916511CREBBPc.5310G= (p.Leu1770=)
c.5196G= (p.Leu1732=)
c.5265G= (p.Leu1755=)
c.4893G= (p.Leu1631=)
c.5049G= (p.Leu1683=)
c.5256G= (p.Leu1752=)
c.4557G= (p.Leu1519=)
c.5304G= (p.Leu1768=)
16g.3729737C>GCA493394225CREBBPc.5310G>C (p.Leu1770=)
c.5196G>C (p.Leu1732=)
c.5265G>C (p.Leu1755=)
c.4893G>C (p.Leu1631=)
c.5049G>C (p.Leu1683=)
c.5256G>C (p.Leu1752=)
c.4557G>C (p.Leu1519=)
c.5304G>C (p.Leu1768=)
dbSNP
16g.3729737C>TCA493394224CREBBPc.5310G>A (p.Leu1770=)
c.5196G>A (p.Leu1732=)
c.5265G>A (p.Leu1755=)
c.4893G>A (p.Leu1631=)
c.5049G>A (p.Leu1683=)
c.5256G>A (p.Leu1752=)
c.4557G>A (p.Leu1519=)
c.5304G>A (p.Leu1768=)
dbSNP
16g.3729738A>CCA394557235CREBBPc.5309T>G (p.Leu1770Arg)
c.5195T>G (p.Leu1732Arg)
c.5264T>G (p.Leu1755Arg)
c.4892T>G (p.Leu1631Arg)
c.5048T>G (p.Leu1683Arg)
c.5255T>G (p.Leu1752Arg)
c.4556T>G (p.Leu1519Arg)
c.5303T>G (p.Leu1768Arg)
dbSNP
16g.3729738A>GCA394557237CREBBPc.5309T>C (p.Leu1770Pro)
c.5195T>C (p.Leu1732Pro)
c.5264T>C (p.Leu1755Pro)
c.4892T>C (p.Leu1631Pro)
c.5048T>C (p.Leu1683Pro)
c.5255T>C (p.Leu1752Pro)
c.4556T>C (p.Leu1519Pro)
c.5303T>C (p.Leu1768Pro)
dbSNP
16g.3729738A>TCA394557238CREBBPc.5309T>A (p.Leu1770Gln)
c.5195T>A (p.Leu1732Gln)
c.5264T>A (p.Leu1755Gln)
c.4892T>A (p.Leu1631Gln)
c.5048T>A (p.Leu1683Gln)
c.5255T>A (p.Leu1752Gln)
c.4556T>A (p.Leu1519Gln)
c.5303T>A (p.Leu1768Gln)
dbSNP
16g.3729739G>ACA493394226CREBBPc.5308C>T (p.Leu1770=)
c.5194C>T (p.Leu1732=)
c.5263C>T (p.Leu1755=)
c.4891C>T (p.Leu1631=)
c.5047C>T (p.Leu1683=)
c.5254C>T (p.Leu1752=)
c.4555C>T (p.Leu1519=)
c.5302C>T (p.Leu1768=)
dbSNP
16g.3729739G>CCA394557242CREBBPc.5308C>G (p.Leu1770Val)
c.5194C>G (p.Leu1732Val)
c.5263C>G (p.Leu1755Val)
c.4891C>G (p.Leu1631Val)
c.5047C>G (p.Leu1683Val)
c.5254C>G (p.Leu1752Val)
c.4555C>G (p.Leu1519Val)
c.5302C>G (p.Leu1768Val)
dbSNP
16g.3729739G>TCA394557241CREBBPc.5308C>A (p.Leu1770Met)
c.5194C>A (p.Leu1732Met)
c.5263C>A (p.Leu1755Met)
c.4891C>A (p.Leu1631Met)
c.5047C>A (p.Leu1683Met)
c.5254C>A (p.Leu1752Met)
c.4555C>A (p.Leu1519Met)
c.5302C>A (p.Leu1768Met)
16g.3729740C>ACA493394227CREBBPc.5307G>T (p.Arg1769=)
c.5193G>T (p.Arg1731=)
c.5262G>T (p.Arg1754=)
c.4890G>T (p.Arg1630=)
c.5046G>T (p.Arg1682=)
c.5253G>T (p.Arg1751=)
c.4554G>T (p.Arg1518=)
c.5301G>T (p.Arg1767=)
dbSNP gnomAD v4
16g.3729740C>GCA493394229CREBBPc.5307G>C (p.Arg1769=)
c.5193G>C (p.Arg1731=)
c.5262G>C (p.Arg1754=)
c.4890G>C (p.Arg1630=)
c.5046G>C (p.Arg1682=)
c.5253G>C (p.Arg1751=)
c.4554G>C (p.Arg1518=)
c.5301G>C (p.Arg1767=)
dbSNP
16g.3729740C>TCA493394228CREBBPc.5307G>A (p.Arg1769=)
c.5193G>A (p.Arg1731=)
c.5262G>A (p.Arg1754=)
c.4890G>A (p.Arg1630=)
c.5046G>A (p.Arg1682=)
c.5253G>A (p.Arg1751=)
c.4554G>A (p.Arg1518=)
c.5301G>A (p.Arg1767=)
dbSNP gnomAD v4
16g.3729741C>ACA394557244CREBBPc.5306G>T (p.Arg1769Leu)
c.5192G>T (p.Arg1731Leu)
c.5261G>T (p.Arg1754Leu)
c.4889G>T (p.Arg1630Leu)
c.5045G>T (p.Arg1682Leu)
c.5252G>T (p.Arg1751Leu)
c.4553G>T (p.Arg1518Leu)
c.5300G>T (p.Arg1767Leu)
dbSNP
16g.3729741C>GCA394557246CREBBPc.5306G>C (p.Arg1769Pro)
c.5192G>C (p.Arg1731Pro)
c.5261G>C (p.Arg1754Pro)
c.4889G>C (p.Arg1630Pro)
c.5045G>C (p.Arg1682Pro)
c.5252G>C (p.Arg1751Pro)
c.4553G>C (p.Arg1518Pro)
c.5300G>C (p.Arg1767Pro)
dbSNP
16g.3729741C>TCA394557248CREBBPc.5306G>A (p.Arg1769Gln)
c.5192G>A (p.Arg1731Gln)
c.5261G>A (p.Arg1754Gln)
c.4889G>A (p.Arg1630Gln)
c.5045G>A (p.Arg1682Gln)
c.5252G>A (p.Arg1751Gln)
c.4553G>A (p.Arg1518Gln)
c.5300G>A (p.Arg1767Gln)
dbSNP gnomAD v4
16g.3729742G>ACA394557250CREBBPc.5305C>T (p.Arg1769Trp)
c.5191C>T (p.Arg1731Trp)
c.5260C>T (p.Arg1754Trp)
c.4888C>T (p.Arg1630Trp)
c.5044C>T (p.Arg1682Trp)
c.5251C>T (p.Arg1751Trp)
c.4552C>T (p.Arg1518Trp)
c.5299C>T (p.Arg1767Trp)
dbSNP gnomAD v4
16g.3729742G>CCA394557252CREBBPc.5305C>G (p.Arg1769Gly)
c.5191C>G (p.Arg1731Gly)
c.5260C>G (p.Arg1754Gly)
c.4888C>G (p.Arg1630Gly)
c.5044C>G (p.Arg1682Gly)
c.5251C>G (p.Arg1751Gly)
c.4552C>G (p.Arg1518Gly)
c.5299C>G (p.Arg1767Gly)
dbSNP
16g.3729742G>TCA493394230CREBBPc.5305C>A (p.Arg1769=)
c.5191C>A (p.Arg1731=)
c.5260C>A (p.Arg1754=)
c.4888C>A (p.Arg1630=)
c.5044C>A (p.Arg1682=)
c.5251C>A (p.Arg1751=)
c.4552C>A (p.Arg1518=)
c.5299C>A (p.Arg1767=)
16g.3729743G>ACA493394231CREBBPc.5304C>T (p.Arg1768=)
c.5190C>T (p.Arg1730=)
c.5259C>T (p.Arg1753=)
c.4887C>T (p.Arg1629=)
c.5043C>T (p.Arg1681=)
c.5250C>T (p.Arg1750=)
c.4551C>T (p.Arg1517=)
c.5298C>T (p.Arg1766=)
dbSNP
16g.3729743G>CCA7869295CREBBPc.5304C>G (p.Arg1768=)
c.5190C>G (p.Arg1730=)
c.5259C>G (p.Arg1753=)
c.4887C>G (p.Arg1629=)
c.5043C>G (p.Arg1681=)
c.5250C>G (p.Arg1750=)
c.4551C>G (p.Arg1517=)
c.5298C>G (p.Arg1766=)
dbSNP ExAC gnomAD v2
16g.3729743G=CA2202916512CREBBPc.5304C= (p.Arg1768=)
c.5190C= (p.Arg1730=)
c.5259C= (p.Arg1753=)
c.4887C= (p.Arg1629=)
c.5043C= (p.Arg1681=)
c.5250C= (p.Arg1750=)
c.4551C= (p.Arg1517=)
c.5298C= (p.Arg1766=)
16g.3729743G>TCA493394232CREBBPc.5304C>A (p.Arg1768=)
c.5190C>A (p.Arg1730=)
c.5259C>A (p.Arg1753=)
c.4887C>A (p.Arg1629=)
c.5043C>A (p.Arg1681=)
c.5250C>A (p.Arg1750=)
c.4551C>A (p.Arg1517=)
c.5298C>A (p.Arg1766=)
gnomAD v4
16g.3729744C>ACA394557255CREBBPc.5303G>T (p.Arg1768Leu)
c.5189G>T (p.Arg1730Leu)
c.5258G>T (p.Arg1753Leu)
c.4886G>T (p.Arg1629Leu)
c.5042G>T (p.Arg1681Leu)
c.5249G>T (p.Arg1750Leu)
c.4550G>T (p.Arg1517Leu)
c.5297G>T (p.Arg1766Leu)
dbSNP
16g.3729744C>GCA394557259CREBBPc.5303G>C (p.Arg1768Pro)
c.5189G>C (p.Arg1730Pro)
c.5258G>C (p.Arg1753Pro)
c.4886G>C (p.Arg1629Pro)
c.5042G>C (p.Arg1681Pro)
c.5249G>C (p.Arg1750Pro)
c.4550G>C (p.Arg1517Pro)
c.5297G>C (p.Arg1766Pro)
dbSNP
16g.3729744C>TCA394557257CREBBPc.5303G>A (p.Arg1768His)
c.5189G>A (p.Arg1730His)
c.5258G>A (p.Arg1753His)
c.4886G>A (p.Arg1629His)
c.5042G>A (p.Arg1681His)
c.5249G>A (p.Arg1750His)
c.4550G>A (p.Arg1517His)
c.5297G>A (p.Arg1766His)
ClinVar dbSNP gnomAD v4
16g.3729745G>ACA394557261CREBBPc.5302C>T (p.Arg1768Cys)
c.5188C>T (p.Arg1730Cys)
c.5257C>T (p.Arg1753Cys)
c.4885C>T (p.Arg1629Cys)
c.5041C>T (p.Arg1681Cys)
c.5248C>T (p.Arg1750Cys)
c.4549C>T (p.Arg1517Cys)
c.5296C>T (p.Arg1766Cys)
dbSNP
16g.3729745G>CCA394557263CREBBPc.5302C>G (p.Arg1768Gly)
c.5188C>G (p.Arg1730Gly)
c.5257C>G (p.Arg1753Gly)
c.4885C>G (p.Arg1629Gly)
c.5041C>G (p.Arg1681Gly)
c.5248C>G (p.Arg1750Gly)
c.4549C>G (p.Arg1517Gly)
c.5296C>G (p.Arg1766Gly)
dbSNP
16g.3729745G>TCA394557265CREBBPc.5302C>A (p.Arg1768Ser)
c.5188C>A (p.Arg1730Ser)
c.5257C>A (p.Arg1753Ser)
c.4885C>A (p.Arg1629Ser)
c.5041C>A (p.Arg1681Ser)
c.5248C>A (p.Arg1750Ser)
c.4549C>A (p.Arg1517Ser)
c.5296C>A (p.Arg1766Ser)
gnomAD v4
16g.3729746T>ACA493394233CREBBPc.5301A>T (p.Ser1767=)
c.5187A>T (p.Ser1729=)
c.5256A>T (p.Ser1752=)
c.4884A>T (p.Ser1628=)
c.5040A>T (p.Ser1680=)
c.5247A>T (p.Ser1749=)
c.4548A>T (p.Ser1516=)
c.5295A>T (p.Ser1765=)
dbSNP
16g.3729746T>CCA493394234CREBBPc.5301A>G (p.Ser1767=)
c.5187A>G (p.Ser1729=)
c.5256A>G (p.Ser1752=)
c.4884A>G (p.Ser1628=)
c.5040A>G (p.Ser1680=)
c.5247A>G (p.Ser1749=)
c.4548A>G (p.Ser1516=)
c.5295A>G (p.Ser1765=)
dbSNP gnomAD v3 gnomAD v4
16g.3729746T>GCA493394235CREBBPc.5301A>C (p.Ser1767=)
c.5187A>C (p.Ser1729=)
c.5256A>C (p.Ser1752=)
c.4884A>C (p.Ser1628=)
c.5040A>C (p.Ser1680=)
c.5247A>C (p.Ser1749=)
c.4548A>C (p.Ser1516=)
c.5295A>C (p.Ser1765=)
dbSNP
16g.3729746T=CA2202916513CREBBPc.5301A= (p.Ser1767=)
c.5187A= (p.Ser1729=)
c.5256A= (p.Ser1752=)
c.4884A= (p.Ser1628=)
c.5040A= (p.Ser1680=)
c.5247A= (p.Ser1749=)
c.4548A= (p.Ser1516=)
c.5295A= (p.Ser1765=)
16g.3729746_3729747insTGGGGGTTCTTTCA2573152062CREBBPc.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln)
c.5187_5188insAAGAACCCCCAA (p.Ser1729_Arg1730insLysAsnProGln)
c.5256_5257insAAGAACCCCCAA (p.Ser1752_Arg1753insLysAsnProGln)
c.4884_4885insAAGAACCCCCAA (p.Ser1628_Arg1629insLysAsnProGln)
c.5040_5041insAAGAACCCCCAA (p.Ser1680_Arg1681insLysAsnProGln)
c.5247_5248insAAGAACCCCCAA (p.Ser1749_Arg1750insLysAsnProGln)
c.4548_4549insAAGAACCCCCAA (p.Ser1516_Arg1517insLysAsnProGln)
c.5295_5296insAAGAACCCCCAA (p.Ser1765_Arg1766insLysAsnProGln)
ClinVar dbSNP
16g.3729747G>ACA394557267CREBBPc.5300C>T (p.Ser1767Leu)
c.5186C>T (p.Ser1729Leu)
c.5255C>T (p.Ser1752Leu)
c.4883C>T (p.Ser1628Leu)
c.5039C>T (p.Ser1680Leu)
c.5246C>T (p.Ser1749Leu)
c.4547C>T (p.Ser1516Leu)
c.5294C>T (p.Ser1765Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729747G>CCA394557269CREBBPc.5300C>G (p.Ser1767Ter)
c.5186C>G (p.Ser1729Ter)
c.5255C>G (p.Ser1752Ter)
c.4883C>G (p.Ser1628Ter)
c.5039C>G (p.Ser1680Ter)
c.5246C>G (p.Ser1749Ter)
c.4547C>G (p.Ser1516Ter)
c.5294C>G (p.Ser1765Ter)
dbSNP
16g.3729747G=CA2202916514CREBBPc.5300C= (p.Ser1767=)
c.5186C= (p.Ser1729=)
c.5255C= (p.Ser1752=)
c.4883C= (p.Ser1628=)
c.5039C= (p.Ser1680=)
c.5246C= (p.Ser1749=)
c.4547C= (p.Ser1516=)
c.5294C= (p.Ser1765=)
16g.3729747G>TCA394557270CREBBPc.5300C>A (p.Ser1767Ter)
c.5186C>A (p.Ser1729Ter)
c.5255C>A (p.Ser1752Ter)
c.4883C>A (p.Ser1628Ter)
c.5039C>A (p.Ser1680Ter)
c.5246C>A (p.Ser1749Ter)
c.4547C>A (p.Ser1516Ter)
c.5294C>A (p.Ser1765Ter)
gnomAD v4
16g.3729748A>CCA394557273CREBBPc.5299T>G (p.Ser1767Ala)
c.5185T>G (p.Ser1729Ala)
c.5254T>G (p.Ser1752Ala)
c.4882T>G (p.Ser1628Ala)
c.5038T>G (p.Ser1680Ala)
c.5245T>G (p.Ser1749Ala)
c.4546T>G (p.Ser1516Ala)
c.5293T>G (p.Ser1765Ala)
dbSNP
16g.3729748A>GCA394557275CREBBPc.5299T>C (p.Ser1767Pro)
c.5185T>C (p.Ser1729Pro)
c.5254T>C (p.Ser1752Pro)
c.4882T>C (p.Ser1628Pro)
c.5038T>C (p.Ser1680Pro)
c.5245T>C (p.Ser1749Pro)
c.4546T>C (p.Ser1516Pro)
c.5293T>C (p.Ser1765Pro)
dbSNP
16g.3729748A>TCA394557277CREBBPc.5299T>A (p.Ser1767Thr)
c.5185T>A (p.Ser1729Thr)
c.5254T>A (p.Ser1752Thr)
c.4882T>A (p.Ser1628Thr)
c.5038T>A (p.Ser1680Thr)
c.5245T>A (p.Ser1749Thr)
c.4546T>A (p.Ser1516Thr)
c.5293T>A (p.Ser1765Thr)
dbSNP
16g.3729749C>ACA394557279CREBBPc.5298G>T (p.Glu1766Asp)
c.5184G>T (p.Glu1728Asp)
c.5253G>T (p.Glu1751Asp)
c.4881G>T (p.Glu1627Asp)
c.5037G>T (p.Glu1679Asp)
c.5244G>T (p.Glu1748Asp)
c.4545G>T (p.Glu1515Asp)
c.5292G>T (p.Glu1764Asp)
dbSNP
16g.3729749C>GCA394557281CREBBPc.5298G>C (p.Glu1766Asp)
c.5184G>C (p.Glu1728Asp)
c.5253G>C (p.Glu1751Asp)
c.4881G>C (p.Glu1627Asp)
c.5037G>C (p.Glu1679Asp)
c.5244G>C (p.Glu1748Asp)
c.4545G>C (p.Glu1515Asp)
c.5292G>C (p.Glu1764Asp)
dbSNP
16g.3729749C>TCA493394237CREBBPc.5298G>A (p.Glu1766=)
c.5184G>A (p.Glu1728=)
c.5253G>A (p.Glu1751=)
c.4881G>A (p.Glu1627=)
c.5037G>A (p.Glu1679=)
c.5244G>A (p.Glu1748=)
c.4545G>A (p.Glu1515=)
c.5292G>A (p.Glu1764=)
dbSNP
16g.3729750T>ACA394557283CREBBPc.5297A>T (p.Glu1766Val)
c.5183A>T (p.Glu1728Val)
c.5252A>T (p.Glu1751Val)
c.4880A>T (p.Glu1627Val)
c.5036A>T (p.Glu1679Val)
c.5243A>T (p.Glu1748Val)
c.4544A>T (p.Glu1515Val)
c.5291A>T (p.Glu1764Val)
dbSNP
16g.3729750T>CCA394557287CREBBPc.5297A>G (p.Glu1766Gly)
c.5183A>G (p.Glu1728Gly)
c.5252A>G (p.Glu1751Gly)
c.4880A>G (p.Glu1627Gly)
c.5036A>G (p.Glu1679Gly)
c.5243A>G (p.Glu1748Gly)
c.4544A>G (p.Glu1515Gly)
c.5291A>G (p.Glu1764Gly)
dbSNP
16g.3729750T>GCA394557285CREBBPc.5297A>C (p.Glu1766Ala)
c.5183A>C (p.Glu1728Ala)
c.5252A>C (p.Glu1751Ala)
c.4880A>C (p.Glu1627Ala)
c.5036A>C (p.Glu1679Ala)
c.5243A>C (p.Glu1748Ala)
c.4544A>C (p.Glu1515Ala)
c.5291A>C (p.Glu1764Ala)
16g.3729750_3729751insGTGGGCA2573152063CREBBPc.5296_5297insCCCAC (p.Glu1766AlafsTer7)
c.5182_5183insCCCAC (p.Glu1728AlafsTer7)
c.5251_5252insCCCAC (p.Glu1751AlafsTer7)
c.4879_4880insCCCAC (p.Glu1627AlafsTer7)
c.5035_5036insCCCAC (p.Glu1679AlafsTer7)
c.5242_5243insCCCAC (p.Glu1748AlafsTer7)
c.4543_4544insCCCAC (p.Glu1515AlafsTer7)
c.5290_5291insCCCAC (p.Glu1764AlafsTer7)
ClinVar dbSNP
16g.3729751C>ACA394557289CREBBPc.5296G>T (p.Glu1766Ter)
c.5182G>T (p.Glu1728Ter)
c.5251G>T (p.Glu1751Ter)
c.4879G>T (p.Glu1627Ter)
c.5035G>T (p.Glu1679Ter)
c.5242G>T (p.Glu1748Ter)
c.4543G>T (p.Glu1515Ter)
c.5290G>T (p.Glu1764Ter)
dbSNP
16g.3729751C>GCA394557290CREBBPc.5296G>C (p.Glu1766Gln)
c.5182G>C (p.Glu1728Gln)
c.5251G>C (p.Glu1751Gln)
c.4879G>C (p.Glu1627Gln)
c.5035G>C (p.Glu1679Gln)
c.5242G>C (p.Glu1748Gln)
c.4543G>C (p.Glu1515Gln)
c.5290G>C (p.Glu1764Gln)
dbSNP
16g.3729751C>TCA394557292CREBBPc.5296G>A (p.Glu1766Lys)
c.5182G>A (p.Glu1728Lys)
c.5251G>A (p.Glu1751Lys)
c.4879G>A (p.Glu1627Lys)
c.5035G>A (p.Glu1679Lys)
c.5242G>A (p.Glu1748Lys)
c.4543G>A (p.Glu1515Lys)
c.5290G>A (p.Glu1764Lys)
dbSNP
16g.3729752C>ACA394557294CREBBPc.5295G>T (p.Gln1765His)
c.5181G>T (p.Gln1727His)
c.5250G>T (p.Gln1750His)
c.4878G>T (p.Gln1626His)
c.5034G>T (p.Gln1678His)
c.5241G>T (p.Gln1747His)
c.4542G>T (p.Gln1514His)
c.5289G>T (p.Gln1763His)
dbSNP
16g.3729752C>GCA394557296CREBBPc.5295G>C (p.Gln1765His)
c.5181G>C (p.Gln1727His)
c.5250G>C (p.Gln1750His)
c.4878G>C (p.Gln1626His)
c.5034G>C (p.Gln1678His)
c.5241G>C (p.Gln1747His)
c.4542G>C (p.Gln1514His)
c.5289G>C (p.Gln1763His)
dbSNP
16g.3729752C>TCA493394238CREBBPc.5295G>A (p.Gln1765=)
c.5181G>A (p.Gln1727=)
c.5250G>A (p.Gln1750=)
c.4878G>A (p.Gln1626=)
c.5034G>A (p.Gln1678=)
c.5241G>A (p.Gln1747=)
c.4542G>A (p.Gln1514=)
c.5289G>A (p.Gln1763=)
dbSNP
16g.3729753T>ACA394557302CREBBPc.5294A>T (p.Gln1765Leu)
c.5180A>T (p.Gln1727Leu)
c.5249A>T (p.Gln1750Leu)
c.4877A>T (p.Gln1626Leu)
c.5033A>T (p.Gln1678Leu)
c.5240A>T (p.Gln1747Leu)
c.4541A>T (p.Gln1514Leu)
c.5288A>T (p.Gln1763Leu)
COSMIC
16g.3729753T>CCA394557300CREBBPc.5294A>G (p.Gln1765Arg)
c.5180A>G (p.Gln1727Arg)
c.5249A>G (p.Gln1750Arg)
c.4877A>G (p.Gln1626Arg)
c.5033A>G (p.Gln1678Arg)
c.5240A>G (p.Gln1747Arg)
c.4541A>G (p.Gln1514Arg)
c.5288A>G (p.Gln1763Arg)
16g.3729753T>GCA394557298CREBBPc.5294A>C (p.Gln1765Pro)
c.5180A>C (p.Gln1727Pro)
c.5249A>C (p.Gln1750Pro)
c.4877A>C (p.Gln1626Pro)
c.5033A>C (p.Gln1678Pro)
c.5240A>C (p.Gln1747Pro)
c.4541A>C (p.Gln1514Pro)
c.5288A>C (p.Gln1763Pro)
16g.3729754G>ACA394557304CREBBPc.5293C>T (p.Gln1765Ter)
c.5179C>T (p.Gln1727Ter)
c.5248C>T (p.Gln1750Ter)
c.4876C>T (p.Gln1626Ter)
c.5032C>T (p.Gln1678Ter)
c.5239C>T (p.Gln1747Ter)
c.4540C>T (p.Gln1514Ter)
c.5287C>T (p.Gln1763Ter)
COSMIC
16g.3729754G>CCA394557306CREBBPc.5293C>G (p.Gln1765Glu)
c.5179C>G (p.Gln1727Glu)
c.5248C>G (p.Gln1750Glu)
c.4876C>G (p.Gln1626Glu)
c.5032C>G (p.Gln1678Glu)
c.5239C>G (p.Gln1747Glu)
c.4540C>G (p.Gln1514Glu)
c.5287C>G (p.Gln1763Glu)
16g.3729754G>TCA394557308CREBBPc.5293C>A (p.Gln1765Lys)
c.5179C>A (p.Gln1727Lys)
c.5248C>A (p.Gln1750Lys)
c.4876C>A (p.Gln1626Lys)
c.5032C>A (p.Gln1678Lys)
c.5239C>A (p.Gln1747Lys)
c.4540C>A (p.Gln1514Lys)
c.5287C>A (p.Gln1763Lys)
gnomAD v4
16g.3729758delCA2631398909CREBBPc.5293del (p.Gln1765ArgfsTer6)
c.5179del (p.Gln1727ArgfsTer6)
c.5248del (p.Gln1750ArgfsTer6)
c.4876del (p.Gln1626ArgfsTer6)
c.5032del (p.Gln1678ArgfsTer6)
c.5239del (p.Gln1747ArgfsTer6)
c.4540del (p.Gln1514ArgfsTer6)
c.5287del (p.Gln1763ArgfsTer6)
gnomAD v4
16g.3729755G>ACA493394244CREBBPc.5292C>T (p.Pro1764=)
c.5178C>T (p.Pro1726=)
c.5247C>T (p.Pro1749=)
c.4875C>T (p.Pro1625=)
c.5031C>T (p.Pro1677=)
c.5238C>T (p.Pro1746=)
c.4539C>T (p.Pro1513=)
c.5286C>T (p.Pro1762=)
ClinVar dbSNP gnomAD v4
16g.3729755G>CCA493394243CREBBPc.5292C>G (p.Pro1764=)
c.5178C>G (p.Pro1726=)
c.5247C>G (p.Pro1749=)
c.4875C>G (p.Pro1625=)
c.5031C>G (p.Pro1677=)
c.5238C>G (p.Pro1746=)
c.4539C>G (p.Pro1513=)
c.5286C>G (p.Pro1762=)
dbSNP
16g.3729755G=CA2202916515CREBBPc.5292C= (p.Pro1764=)
c.5178C= (p.Pro1726=)
c.5247C= (p.Pro1749=)
c.4875C= (p.Pro1625=)
c.5031C= (p.Pro1677=)
c.5238C= (p.Pro1746=)
c.4539C= (p.Pro1513=)
c.5286C= (p.Pro1762=)
16g.3729755G>TCA493394241CREBBPc.5292C>A (p.Pro1764=)
c.5178C>A (p.Pro1726=)
c.5247C>A (p.Pro1749=)
c.4875C>A (p.Pro1625=)
c.5031C>A (p.Pro1677=)
c.5238C>A (p.Pro1746=)
c.4539C>A (p.Pro1513=)
c.5286C>A (p.Pro1762=)
dbSNP gnomAD v4
16g.3729756G>ACA394557310CREBBPc.5291C>T (p.Pro1764Leu)
c.5177C>T (p.Pro1726Leu)
c.5246C>T (p.Pro1749Leu)
c.4874C>T (p.Pro1625Leu)
c.5030C>T (p.Pro1677Leu)
c.5237C>T (p.Pro1746Leu)
c.4538C>T (p.Pro1513Leu)
c.5285C>T (p.Pro1762Leu)
dbSNP
16g.3729756G>CCA394557311CREBBPc.5291C>G (p.Pro1764Arg)
c.5177C>G (p.Pro1726Arg)
c.5246C>G (p.Pro1749Arg)
c.4874C>G (p.Pro1625Arg)
c.5030C>G (p.Pro1677Arg)
c.5237C>G (p.Pro1746Arg)
c.4538C>G (p.Pro1513Arg)
c.5285C>G (p.Pro1762Arg)
dbSNP
16g.3729756G>TCA394557312CREBBPc.5291C>A (p.Pro1764His)
c.5177C>A (p.Pro1726His)
c.5246C>A (p.Pro1749His)
c.4874C>A (p.Pro1625His)
c.5030C>A (p.Pro1677His)
c.5237C>A (p.Pro1746His)
c.4538C>A (p.Pro1513His)
c.5285C>A (p.Pro1762His)
dbSNP
16g.3729757G>ACA394557318CREBBPc.5290C>T (p.Pro1764Ser)
c.5176C>T (p.Pro1726Ser)
c.5245C>T (p.Pro1749Ser)
c.4873C>T (p.Pro1625Ser)
c.5029C>T (p.Pro1677Ser)
c.5236C>T (p.Pro1746Ser)
c.4537C>T (p.Pro1513Ser)
c.5284C>T (p.Pro1762Ser)
16g.3729757G>CCA394557315CREBBPc.5290C>G (p.Pro1764Ala)
c.5176C>G (p.Pro1726Ala)
c.5245C>G (p.Pro1749Ala)
c.4873C>G (p.Pro1625Ala)
c.5029C>G (p.Pro1677Ala)
c.5236C>G (p.Pro1746Ala)
c.4537C>G (p.Pro1513Ala)
c.5284C>G (p.Pro1762Ala)
dbSNP
16g.3729757G>TCA394557317CREBBPc.5290C>A (p.Pro1764Thr)
c.5176C>A (p.Pro1726Thr)
c.5245C>A (p.Pro1749Thr)
c.4873C>A (p.Pro1625Thr)
c.5029C>A (p.Pro1677Thr)
c.5236C>A (p.Pro1746Thr)
c.4537C>A (p.Pro1513Thr)
c.5284C>A (p.Pro1762Thr)
dbSNP gnomAD v4
16g.3729758G>ACA493394245CREBBPc.5289C>T (p.Ser1763=)
c.5175C>T (p.Ser1725=)
c.5244C>T (p.Ser1748=)
c.4872C>T (p.Ser1624=)
c.5028C>T (p.Ser1676=)
c.5235C>T (p.Ser1745=)
c.4536C>T (p.Ser1512=)
c.5283C>T (p.Ser1761=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729758G>CCA394557321CREBBPc.5289C>G (p.Ser1763Arg)
c.5175C>G (p.Ser1725Arg)
c.5244C>G (p.Ser1748Arg)
c.4872C>G (p.Ser1624Arg)
c.5028C>G (p.Ser1676Arg)
c.5235C>G (p.Ser1745Arg)
c.4536C>G (p.Ser1512Arg)
c.5283C>G (p.Ser1761Arg)
dbSNP gnomAD v4
16g.3729758G=CA2202916516CREBBPc.5289C= (p.Ser1763=)
c.5175C= (p.Ser1725=)
c.5244C= (p.Ser1748=)
c.4872C= (p.Ser1624=)
c.5028C= (p.Ser1676=)
c.5235C= (p.Ser1745=)
c.4536C= (p.Ser1512=)
c.5283C= (p.Ser1761=)
16g.3729758G>TCA394557322CREBBPc.5289C>A (p.Ser1763Arg)
c.5175C>A (p.Ser1725Arg)
c.5244C>A (p.Ser1748Arg)
c.4872C>A (p.Ser1624Arg)
c.5028C>A (p.Ser1676Arg)
c.5235C>A (p.Ser1745Arg)
c.4536C>A (p.Ser1512Arg)
c.5283C>A (p.Ser1761Arg)
gnomAD v4
16g.3729759C>ACA394557323CREBBPc.5288G>T (p.Ser1763Ile)
c.5174G>T (p.Ser1725Ile)
c.5243G>T (p.Ser1748Ile)
c.4871G>T (p.Ser1624Ile)
c.5027G>T (p.Ser1676Ile)
c.5234G>T (p.Ser1745Ile)
c.4535G>T (p.Ser1512Ile)
c.5282G>T (p.Ser1761Ile)
dbSNP gnomAD v4
16g.3729759C=CA2202916517CREBBPc.5288G= (p.Ser1763=)
c.5174G= (p.Ser1725=)
c.5243G= (p.Ser1748=)
c.4871G= (p.Ser1624=)
c.5027G= (p.Ser1676=)
c.5234G= (p.Ser1745=)
c.4535G= (p.Ser1512=)
c.5282G= (p.Ser1761=)
16g.3729759C>GCA394557325CREBBPc.5288G>C (p.Ser1763Thr)
c.5174G>C (p.Ser1725Thr)
c.5243G>C (p.Ser1748Thr)
c.4871G>C (p.Ser1624Thr)
c.5027G>C (p.Ser1676Thr)
c.5234G>C (p.Ser1745Thr)
c.4535G>C (p.Ser1512Thr)
c.5282G>C (p.Ser1761Thr)
dbSNP gnomAD v4
16g.3729759C>TCA7869296CREBBPc.5288G>A (p.Ser1763Asn)
c.5174G>A (p.Ser1725Asn)
c.5243G>A (p.Ser1748Asn)
c.4871G>A (p.Ser1624Asn)
c.5027G>A (p.Ser1676Asn)
c.5234G>A (p.Ser1745Asn)
c.4535G>A (p.Ser1512Asn)
c.5282G>A (p.Ser1761Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729760T>ACA394557328CREBBPc.5287A>T (p.Ser1763Cys)
c.5173A>T (p.Ser1725Cys)
c.5242A>T (p.Ser1748Cys)
c.4870A>T (p.Ser1624Cys)
c.5026A>T (p.Ser1676Cys)
c.5233A>T (p.Ser1745Cys)
c.4534A>T (p.Ser1512Cys)
c.5281A>T (p.Ser1761Cys)
16g.3729760T>CCA394557330CREBBPc.5287A>G (p.Ser1763Gly)
c.5173A>G (p.Ser1725Gly)
c.5242A>G (p.Ser1748Gly)
c.4870A>G (p.Ser1624Gly)
c.5026A>G (p.Ser1676Gly)
c.5233A>G (p.Ser1745Gly)
c.4534A>G (p.Ser1512Gly)
c.5281A>G (p.Ser1761Gly)
16g.3729760T>GCA394557332CREBBPc.5287A>C (p.Ser1763Arg)
c.5173A>C (p.Ser1725Arg)
c.5242A>C (p.Ser1748Arg)
c.4870A>C (p.Ser1624Arg)
c.5026A>C (p.Ser1676Arg)
c.5233A>C (p.Ser1745Arg)
c.4534A>C (p.Ser1512Arg)
c.5281A>C (p.Ser1761Arg)
16g.3729761C>ACA394557334CREBBPc.5286G>T (p.Lys1762Asn)
c.5172G>T (p.Lys1724Asn)
c.5241G>T (p.Lys1747Asn)
c.4869G>T (p.Lys1623Asn)
c.5025G>T (p.Lys1675Asn)
c.5232G>T (p.Lys1744Asn)
c.4533G>T (p.Lys1511Asn)
c.5280G>T (p.Lys1760Asn)
16g.3729761C=CA2202916518CREBBPc.5286G= (p.Lys1762=)
c.5172G= (p.Lys1724=)
c.5241G= (p.Lys1747=)
c.4869G= (p.Lys1623=)
c.5025G= (p.Lys1675=)
c.5232G= (p.Lys1744=)
c.4533G= (p.Lys1511=)
c.5280G= (p.Lys1760=)
16g.3729761C>GCA394557335CREBBPc.5286G>C (p.Lys1762Asn)
c.5172G>C (p.Lys1724Asn)
c.5241G>C (p.Lys1747Asn)
c.4869G>C (p.Lys1623Asn)
c.5025G>C (p.Lys1675Asn)
c.5232G>C (p.Lys1744Asn)
c.4533G>C (p.Lys1511Asn)
c.5280G>C (p.Lys1760Asn)
dbSNP
16g.3729761C>TCA493394248CREBBPc.5286G>A (p.Lys1762=)
c.5172G>A (p.Lys1724=)
c.5241G>A (p.Lys1747=)
c.4869G>A (p.Lys1623=)
c.5025G>A (p.Lys1675=)
c.5232G>A (p.Lys1744=)
c.4533G>A (p.Lys1511=)
c.5280G>A (p.Lys1760=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729762T>ACA394557338CREBBPc.5285A>T (p.Lys1762Met)
c.5171A>T (p.Lys1724Met)
c.5240A>T (p.Lys1747Met)
c.4868A>T (p.Lys1623Met)
c.5024A>T (p.Lys1675Met)
c.5231A>T (p.Lys1744Met)
c.4532A>T (p.Lys1511Met)
c.5279A>T (p.Lys1760Met)
dbSNP gnomAD v4
16g.3729762T>CCA394557340CREBBPc.5285A>G (p.Lys1762Arg)
c.5171A>G (p.Lys1724Arg)
c.5240A>G (p.Lys1747Arg)
c.4868A>G (p.Lys1623Arg)
c.5024A>G (p.Lys1675Arg)
c.5231A>G (p.Lys1744Arg)
c.4532A>G (p.Lys1511Arg)
c.5279A>G (p.Lys1760Arg)
dbSNP
16g.3729762T>GCA394557342CREBBPc.5285A>C (p.Lys1762Thr)
c.5171A>C (p.Lys1724Thr)
c.5240A>C (p.Lys1747Thr)
c.4868A>C (p.Lys1623Thr)
c.5024A>C (p.Lys1675Thr)
c.5231A>C (p.Lys1744Thr)
c.4532A>C (p.Lys1511Thr)
c.5279A>C (p.Lys1760Thr)
dbSNP
16g.3729763T>ACA394557344CREBBPc.5284A>T (p.Lys1762Ter)
c.5170A>T (p.Lys1724Ter)
c.5239A>T (p.Lys1747Ter)
c.4867A>T (p.Lys1623Ter)
c.5023A>T (p.Lys1675Ter)
c.5230A>T (p.Lys1744Ter)
c.4531A>T (p.Lys1511Ter)
c.5278A>T (p.Lys1760Ter)
dbSNP COSMIC
16g.3729763T>CCA394557347CREBBPc.5284A>G (p.Lys1762Glu)
c.5170A>G (p.Lys1724Glu)
c.5239A>G (p.Lys1747Glu)
c.4867A>G (p.Lys1623Glu)
c.5023A>G (p.Lys1675Glu)
c.5230A>G (p.Lys1744Glu)
c.4531A>G (p.Lys1511Glu)
c.5278A>G (p.Lys1760Glu)
dbSNP gnomAD v4
16g.3729763T>GCA394557345CREBBPc.5284A>C (p.Lys1762Gln)
c.5170A>C (p.Lys1724Gln)
c.5239A>C (p.Lys1747Gln)
c.4867A>C (p.Lys1623Gln)
c.5023A>C (p.Lys1675Gln)
c.5230A>C (p.Lys1744Gln)
c.4531A>C (p.Lys1511Gln)
c.5278A>C (p.Lys1760Gln)
16g.3729764T>ACA493394250CREBBPc.5283A>T (p.Ser1761=)
c.5169A>T (p.Ser1723=)
c.5238A>T (p.Ser1746=)
c.4866A>T (p.Ser1622=)
c.5022A>T (p.Ser1674=)
c.5229A>T (p.Ser1743=)
c.4530A>T (p.Ser1510=)
c.5277A>T (p.Ser1759=)
16g.3729764T>CCA276972295CREBBPc.5283A>G (p.Ser1761=)
c.5169A>G (p.Ser1723=)
c.5238A>G (p.Ser1746=)
c.4866A>G (p.Ser1622=)
c.5022A>G (p.Ser1674=)
c.5229A>G (p.Ser1743=)
c.4530A>G (p.Ser1510=)
c.5277A>G (p.Ser1759=)
dbSNP gnomAD v4
16g.3729764T>GCA493394252CREBBPc.5283A>C (p.Ser1761=)
c.5169A>C (p.Ser1723=)
c.5238A>C (p.Ser1746=)
c.4866A>C (p.Ser1622=)
c.5022A>C (p.Ser1674=)
c.5229A>C (p.Ser1743=)
c.4530A>C (p.Ser1510=)
c.5277A>C (p.Ser1759=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729764T=CA2202916519CREBBPc.5283A= (p.Ser1761=)
c.5169A= (p.Ser1723=)
c.5238A= (p.Ser1746=)
c.4866A= (p.Ser1622=)
c.5022A= (p.Ser1674=)
c.5229A= (p.Ser1743=)
c.4530A= (p.Ser1510=)
c.5277A= (p.Ser1759=)
16g.3729766_3729785delCA645575162CREBBPc.5264_5283del (p.Ser1755LysfsTer?)
c.5150_5169del (p.Ser1717LysfsTer?)
c.5219_5238del (p.Ser1740LysfsTer?)
c.4847_4866del (p.Ser1616LysfsTer?)
c.5003_5022del (p.Ser1668LysfsTer?)
c.5210_5229del (p.Ser1737LysfsTer?)
c.4511_4530del (p.Ser1504LysfsTer?)
c.5258_5277del (p.Ser1753LysfsTer?)
COSMIC
16g.3729765G>ACA394557349CREBBPc.5282C>T (p.Ser1761Leu)
c.5168C>T (p.Ser1723Leu)
c.5237C>T (p.Ser1746Leu)
c.4865C>T (p.Ser1622Leu)
c.5021C>T (p.Ser1674Leu)
c.5228C>T (p.Ser1743Leu)
c.4529C>T (p.Ser1510Leu)
c.5276C>T (p.Ser1759Leu)
dbSNP
16g.3729765G>CCA394557351CREBBPc.5282C>G (p.Ser1761Ter)
c.5168C>G (p.Ser1723Ter)
c.5237C>G (p.Ser1746Ter)
c.4865C>G (p.Ser1622Ter)
c.5021C>G (p.Ser1674Ter)
c.5228C>G (p.Ser1743Ter)
c.4529C>G (p.Ser1510Ter)
c.5276C>G (p.Ser1759Ter)
dbSNP COSMIC
16g.3729765G>TCA394557353CREBBPc.5282C>A (p.Ser1761Ter)
c.5168C>A (p.Ser1723Ter)
c.5237C>A (p.Ser1746Ter)
c.4865C>A (p.Ser1622Ter)
c.5021C>A (p.Ser1674Ter)
c.5228C>A (p.Ser1743Ter)
c.4529C>A (p.Ser1510Ter)
c.5276C>A (p.Ser1759Ter)
dbSNP gnomAD v4 COSMIC
16g.3729766A>CCA394557354CREBBPc.5281T>G (p.Ser1761Ala)
c.5167T>G (p.Ser1723Ala)
c.5236T>G (p.Ser1746Ala)
c.4864T>G (p.Ser1622Ala)
c.5020T>G (p.Ser1674Ala)
c.5227T>G (p.Ser1743Ala)
c.4528T>G (p.Ser1510Ala)
c.5275T>G (p.Ser1759Ala)
dbSNP
16g.3729766A>GCA394557356CREBBPc.5281T>C (p.Ser1761Pro)
c.5167T>C (p.Ser1723Pro)
c.5236T>C (p.Ser1746Pro)
c.4864T>C (p.Ser1622Pro)
c.5020T>C (p.Ser1674Pro)
c.5227T>C (p.Ser1743Pro)
c.4528T>C (p.Ser1510Pro)
c.5275T>C (p.Ser1759Pro)
dbSNP gnomAD v4
16g.3729766A>TCA394557357CREBBPc.5281T>A (p.Ser1761Thr)
c.5167T>A (p.Ser1723Thr)
c.5236T>A (p.Ser1746Thr)
c.4864T>A (p.Ser1622Thr)
c.5020T>A (p.Ser1674Thr)
c.5227T>A (p.Ser1743Thr)
c.4528T>A (p.Ser1510Thr)
c.5275T>A (p.Ser1759Thr)
dbSNP
16g.3729767C>ACA394557359CREBBPc.5280G>T (p.Gln1760His)
c.5166G>T (p.Gln1722His)
c.5235G>T (p.Gln1745His)
c.4863G>T (p.Gln1621His)
c.5019G>T (p.Gln1673His)
c.5226G>T (p.Gln1742His)
c.4527G>T (p.Gln1509His)
c.5274G>T (p.Gln1758His)
dbSNP
16g.3729767C=CA2202916520CREBBPc.5280G= (p.Gln1760=)
c.5166G= (p.Gln1722=)
c.5235G= (p.Gln1745=)
c.4863G= (p.Gln1621=)
c.5019G= (p.Gln1673=)
c.5226G= (p.Gln1742=)
c.4527G= (p.Gln1509=)
c.5274G= (p.Gln1758=)
16g.3729767C>GCA394557360CREBBPc.5280G>C (p.Gln1760His)
c.5166G>C (p.Gln1722His)
c.5235G>C (p.Gln1745His)
c.4863G>C (p.Gln1621His)
c.5019G>C (p.Gln1673His)
c.5226G>C (p.Gln1742His)
c.4527G>C (p.Gln1509His)
c.5274G>C (p.Gln1758His)
dbSNP
16g.3729767C>TCA493394253CREBBPc.5280G>A (p.Gln1760=)
c.5166G>A (p.Gln1722=)
c.5235G>A (p.Gln1745=)
c.4863G>A (p.Gln1621=)
c.5019G>A (p.Gln1673=)
c.5226G>A (p.Gln1742=)
c.4527G>A (p.Gln1509=)
c.5274G>A (p.Gln1758=)
dbSNP gnomAD v2
16g.3729768T>ACA394557362CREBBPc.5279A>T (p.Gln1760Leu)
c.5165A>T (p.Gln1722Leu)
c.5234A>T (p.Gln1745Leu)
c.4862A>T (p.Gln1621Leu)
c.5018A>T (p.Gln1673Leu)
c.5225A>T (p.Gln1742Leu)
c.4526A>T (p.Gln1509Leu)
c.5273A>T (p.Gln1758Leu)
dbSNP
16g.3729768T>CCA394557364CREBBPc.5279A>G (p.Gln1760Arg)
c.5165A>G (p.Gln1722Arg)
c.5234A>G (p.Gln1745Arg)
c.4862A>G (p.Gln1621Arg)
c.5018A>G (p.Gln1673Arg)
c.5225A>G (p.Gln1742Arg)
c.4526A>G (p.Gln1509Arg)
c.5273A>G (p.Gln1758Arg)
dbSNP gnomAD v4
16g.3729768T>GCA394557366CREBBPc.5279A>C (p.Gln1760Pro)
c.5165A>C (p.Gln1722Pro)
c.5234A>C (p.Gln1745Pro)
c.4862A>C (p.Gln1621Pro)
c.5018A>C (p.Gln1673Pro)
c.5225A>C (p.Gln1742Pro)
c.4526A>C (p.Gln1509Pro)
c.5273A>C (p.Gln1758Pro)
16g.3729769G>ACA394557370CREBBPc.5278C>T (p.Gln1760Ter)
c.5164C>T (p.Gln1722Ter)
c.5233C>T (p.Gln1745Ter)
c.4861C>T (p.Gln1621Ter)
c.5017C>T (p.Gln1673Ter)
c.5224C>T (p.Gln1742Ter)
c.4525C>T (p.Gln1509Ter)
c.5272C>T (p.Gln1758Ter)
dbSNP COSMIC
16g.3729769G>CCA394557369CREBBPc.5278C>G (p.Gln1760Glu)
c.5164C>G (p.Gln1722Glu)
c.5233C>G (p.Gln1745Glu)
c.4861C>G (p.Gln1621Glu)
c.5017C>G (p.Gln1673Glu)
c.5224C>G (p.Gln1742Glu)
c.4525C>G (p.Gln1509Glu)
c.5272C>G (p.Gln1758Glu)
dbSNP
16g.3729769G>TCA394557368CREBBPc.5278C>A (p.Gln1760Lys)
c.5164C>A (p.Gln1722Lys)
c.5233C>A (p.Gln1745Lys)
c.4861C>A (p.Gln1621Lys)
c.5017C>A (p.Gln1673Lys)
c.5224C>A (p.Gln1742Lys)
c.4525C>A (p.Gln1509Lys)
c.5272C>A (p.Gln1758Lys)
gnomAD v4
16g.3729770T>ACA493394256CREBBPc.5277A>T (p.Pro1759=)
c.5163A>T (p.Pro1721=)
c.5232A>T (p.Pro1744=)
c.4860A>T (p.Pro1620=)
c.5016A>T (p.Pro1672=)
c.5223A>T (p.Pro1741=)
c.4524A>T (p.Pro1508=)
c.5271A>T (p.Pro1757=)
dbSNP COSMIC
16g.3729770T>CCA7869297CREBBPc.5277A>G (p.Pro1759=)
c.5163A>G (p.Pro1721=)
c.5232A>G (p.Pro1744=)
c.4860A>G (p.Pro1620=)
c.5016A>G (p.Pro1672=)
c.5223A>G (p.Pro1741=)
c.4524A>G (p.Pro1508=)
c.5271A>G (p.Pro1757=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729770T>GCA493394257CREBBPc.5277A>C (p.Pro1759=)
c.5163A>C (p.Pro1721=)
c.5232A>C (p.Pro1744=)
c.4860A>C (p.Pro1620=)
c.5016A>C (p.Pro1672=)
c.5223A>C (p.Pro1741=)
c.4524A>C (p.Pro1508=)
c.5271A>C (p.Pro1757=)
dbSNP
16g.3729770T=CA2202916521CREBBPc.5277A= (p.Pro1759=)
c.5163A= (p.Pro1721=)
c.5232A= (p.Pro1744=)
c.4860A= (p.Pro1620=)
c.5016A= (p.Pro1672=)
c.5223A= (p.Pro1741=)
c.4524A= (p.Pro1508=)
c.5271A= (p.Pro1757=)
16g.3729771G>ACA394557374CREBBPc.5276C>T (p.Pro1759Leu)
c.5162C>T (p.Pro1721Leu)
c.5231C>T (p.Pro1744Leu)
c.4859C>T (p.Pro1620Leu)
c.5015C>T (p.Pro1672Leu)
c.5222C>T (p.Pro1741Leu)
c.4523C>T (p.Pro1508Leu)
c.5270C>T (p.Pro1757Leu)
dbSNP
16g.3729771G>CCA394557375CREBBPc.5276C>G (p.Pro1759Arg)
c.5162C>G (p.Pro1721Arg)
c.5231C>G (p.Pro1744Arg)
c.4859C>G (p.Pro1620Arg)
c.5015C>G (p.Pro1672Arg)
c.5222C>G (p.Pro1741Arg)
c.4523C>G (p.Pro1508Arg)
c.5270C>G (p.Pro1757Arg)
16g.3729771G>TCA394557377CREBBPc.5276C>A (p.Pro1759Gln)
c.5162C>A (p.Pro1721Gln)
c.5231C>A (p.Pro1744Gln)
c.4859C>A (p.Pro1620Gln)
c.5015C>A (p.Pro1672Gln)
c.5222C>A (p.Pro1741Gln)
c.4523C>A (p.Pro1508Gln)
c.5270C>A (p.Pro1757Gln)
16g.3729772G>ACA394557380CREBBPc.5275C>T (p.Pro1759Ser)
c.5161C>T (p.Pro1721Ser)
c.5230C>T (p.Pro1744Ser)
c.4858C>T (p.Pro1620Ser)
c.5014C>T (p.Pro1672Ser)
c.5221C>T (p.Pro1741Ser)
c.4522C>T (p.Pro1508Ser)
c.5269C>T (p.Pro1757Ser)
dbSNP gnomAD v4
16g.3729772G>CCA394557383CREBBPc.5275C>G (p.Pro1759Ala)
c.5161C>G (p.Pro1721Ala)
c.5230C>G (p.Pro1744Ala)
c.4858C>G (p.Pro1620Ala)
c.5014C>G (p.Pro1672Ala)
c.5221C>G (p.Pro1741Ala)
c.4522C>G (p.Pro1508Ala)
c.5269C>G (p.Pro1757Ala)
dbSNP gnomAD v4
16g.3729772G>TCA394557384CREBBPc.5275C>A (p.Pro1759Thr)
c.5161C>A (p.Pro1721Thr)
c.5230C>A (p.Pro1744Thr)
c.4858C>A (p.Pro1620Thr)
c.5014C>A (p.Pro1672Thr)
c.5221C>A (p.Pro1741Thr)
c.4522C>A (p.Pro1508Thr)
c.5269C>A (p.Pro1757Thr)
dbSNP gnomAD v4 COSMIC
16g.3729773C>ACA394557385CREBBPc.5274G>T (p.Glu1758Asp)
c.5160G>T (p.Glu1720Asp)
c.5229G>T (p.Glu1743Asp)
c.4857G>T (p.Glu1619Asp)
c.5013G>T (p.Glu1671Asp)
c.5220G>T (p.Glu1740Asp)
c.4521G>T (p.Glu1507Asp)
c.5268G>T (p.Glu1756Asp)
dbSNP gnomAD v3 gnomAD v4
16g.3729773C=CA2202916522CREBBPc.5274G= (p.Glu1758=)
c.5160G= (p.Glu1720=)
c.5229G= (p.Glu1743=)
c.4857G= (p.Glu1619=)
c.5013G= (p.Glu1671=)
c.5220G= (p.Glu1740=)
c.4521G= (p.Glu1507=)
c.5268G= (p.Glu1756=)
16g.3729773C>GCA394557386CREBBPc.5274G>C (p.Glu1758Asp)
c.5160G>C (p.Glu1720Asp)
c.5229G>C (p.Glu1743Asp)
c.4857G>C (p.Glu1619Asp)
c.5013G>C (p.Glu1671Asp)
c.5220G>C (p.Glu1740Asp)
c.4521G>C (p.Glu1507Asp)
c.5268G>C (p.Glu1756Asp)
dbSNP
16g.3729773C>TCA493394258CREBBPc.5274G>A (p.Glu1758=)
c.5160G>A (p.Glu1720=)
c.5229G>A (p.Glu1743=)
c.4857G>A (p.Glu1619=)
c.5013G>A (p.Glu1671=)
c.5220G>A (p.Glu1740=)
c.4521G>A (p.Glu1507=)
c.5268G>A (p.Glu1756=)
dbSNP gnomAD v3 gnomAD v4
16g.3729774T>ACA394557388CREBBPc.5273A>T (p.Glu1758Val)
c.5159A>T (p.Glu1720Val)
c.5228A>T (p.Glu1743Val)
c.4856A>T (p.Glu1619Val)
c.5012A>T (p.Glu1671Val)
c.5219A>T (p.Glu1740Val)
c.4520A>T (p.Glu1507Val)
c.5267A>T (p.Glu1756Val)
dbSNP
16g.3729774T>CCA394557393CREBBPc.5273A>G (p.Glu1758Gly)
c.5159A>G (p.Glu1720Gly)
c.5228A>G (p.Glu1743Gly)
c.4856A>G (p.Glu1619Gly)
c.5012A>G (p.Glu1671Gly)
c.5219A>G (p.Glu1740Gly)
c.4520A>G (p.Glu1507Gly)
c.5267A>G (p.Glu1756Gly)
dbSNP
16g.3729774T>GCA394557395CREBBPc.5273A>C (p.Glu1758Ala)
c.5159A>C (p.Glu1720Ala)
c.5228A>C (p.Glu1743Ala)
c.4856A>C (p.Glu1619Ala)
c.5012A>C (p.Glu1671Ala)
c.5219A>C (p.Glu1740Ala)
c.4520A>C (p.Glu1507Ala)
c.5267A>C (p.Glu1756Ala)
dbSNP
16g.3729775C>ACA394557401CREBBPc.5272G>T (p.Glu1758Ter)
c.5158G>T (p.Glu1720Ter)
c.5227G>T (p.Glu1743Ter)
c.4855G>T (p.Glu1619Ter)
c.5011G>T (p.Glu1671Ter)
c.5218G>T (p.Glu1740Ter)
c.4519G>T (p.Glu1507Ter)
c.5266G>T (p.Glu1756Ter)
dbSNP gnomAD v4
16g.3729775C=CA2202916523CREBBPc.5272G= (p.Glu1758=)
c.5158G= (p.Glu1720=)
c.5227G= (p.Glu1743=)
c.4855G= (p.Glu1619=)
c.5011G= (p.Glu1671=)
c.5218G= (p.Glu1740=)
c.4519G= (p.Glu1507=)
c.5266G= (p.Glu1756=)
16g.3729775C>GCA394557397CREBBPc.5272G>C (p.Glu1758Gln)
c.5158G>C (p.Glu1720Gln)
c.5227G>C (p.Glu1743Gln)
c.4855G>C (p.Glu1619Gln)
c.5011G>C (p.Glu1671Gln)
c.5218G>C (p.Glu1740Gln)
c.4519G>C (p.Glu1507Gln)
c.5266G>C (p.Glu1756Gln)
dbSNP
16g.3729775C>TCA394557399CREBBPc.5272G>A (p.Glu1758Lys)
c.5158G>A (p.Glu1720Lys)
c.5227G>A (p.Glu1743Lys)
c.4855G>A (p.Glu1619Lys)
c.5011G>A (p.Glu1671Lys)
c.5218G>A (p.Glu1740Lys)
c.4519G>A (p.Glu1507Lys)
c.5266G>A (p.Glu1756Lys)
dbSNP gnomAD v2 gnomAD v4
16g.3729776G>ACA7869299CREBBPc.5271C>T (p.Gly1757=)
c.5157C>T (p.Gly1719=)
c.5226C>T (p.Gly1742=)
c.4854C>T (p.Gly1618=)
c.5010C>T (p.Gly1670=)
c.5217C>T (p.Gly1739=)
c.4518C>T (p.Gly1506=)
c.5265C>T (p.Gly1755=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729776G>CCA7869298CREBBPc.5271C>G (p.Gly1757=)
c.5157C>G (p.Gly1719=)
c.5226C>G (p.Gly1742=)
c.4854C>G (p.Gly1618=)
c.5010C>G (p.Gly1670=)
c.5217C>G (p.Gly1739=)
c.4518C>G (p.Gly1506=)
c.5265C>G (p.Gly1755=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729776G=CA2202916524CREBBPc.5271C= (p.Gly1757=)
c.5157C= (p.Gly1719=)
c.5226C= (p.Gly1742=)
c.4854C= (p.Gly1618=)
c.5010C= (p.Gly1670=)
c.5217C= (p.Gly1739=)
c.4518C= (p.Gly1506=)
c.5265C= (p.Gly1755=)
16g.3729776G>TCA493394259CREBBPc.5271C>A (p.Gly1757=)
c.5157C>A (p.Gly1719=)
c.5226C>A (p.Gly1742=)
c.4854C>A (p.Gly1618=)
c.5010C>A (p.Gly1670=)
c.5217C>A (p.Gly1739=)
c.4518C>A (p.Gly1506=)
c.5265C>A (p.Gly1755=)
dbSNP gnomAD v3 gnomAD v4
16g.3729777C>ACA394557404CREBBPc.5270G>T (p.Gly1757Val)
c.5156G>T (p.Gly1719Val)
c.5225G>T (p.Gly1742Val)
c.4853G>T (p.Gly1618Val)
c.5009G>T (p.Gly1670Val)
c.5216G>T (p.Gly1739Val)
c.4517G>T (p.Gly1506Val)
c.5264G>T (p.Gly1755Val)
dbSNP
16g.3729777C>GCA394557407CREBBPc.5270G>C (p.Gly1757Ala)
c.5156G>C (p.Gly1719Ala)
c.5225G>C (p.Gly1742Ala)
c.4853G>C (p.Gly1618Ala)
c.5009G>C (p.Gly1670Ala)
c.5216G>C (p.Gly1739Ala)
c.4517G>C (p.Gly1506Ala)
c.5264G>C (p.Gly1755Ala)
dbSNP
16g.3729777C>TCA394557406CREBBPc.5270G>A (p.Gly1757Asp)
c.5156G>A (p.Gly1719Asp)
c.5225G>A (p.Gly1742Asp)
c.4853G>A (p.Gly1618Asp)
c.5009G>A (p.Gly1670Asp)
c.5216G>A (p.Gly1739Asp)
c.4517G>A (p.Gly1506Asp)
c.5264G>A (p.Gly1755Asp)
dbSNP gnomAD v4
16g.3729778C>ACA394557410CREBBPc.5269G>T (p.Gly1757Cys)
c.5155G>T (p.Gly1719Cys)
c.5224G>T (p.Gly1742Cys)
c.4852G>T (p.Gly1618Cys)
c.5008G>T (p.Gly1670Cys)
c.5215G>T (p.Gly1739Cys)
c.4516G>T (p.Gly1506Cys)
c.5263G>T (p.Gly1755Cys)
dbSNP COSMIC
16g.3729778C>GCA394557414CREBBPc.5269G>C (p.Gly1757Arg)
c.5155G>C (p.Gly1719Arg)
c.5224G>C (p.Gly1742Arg)
c.4852G>C (p.Gly1618Arg)
c.5008G>C (p.Gly1670Arg)
c.5215G>C (p.Gly1739Arg)
c.4516G>C (p.Gly1506Arg)
c.5263G>C (p.Gly1755Arg)
dbSNP
16g.3729778C>TCA394557412CREBBPc.5269G>A (p.Gly1757Ser)
c.5155G>A (p.Gly1719Ser)
c.5224G>A (p.Gly1742Ser)
c.4852G>A (p.Gly1618Ser)
c.5008G>A (p.Gly1670Ser)
c.5215G>A (p.Gly1739Ser)
c.4516G>A (p.Gly1506Ser)
c.5263G>A (p.Gly1755Ser)
dbSNP gnomAD v4
16g.3729779C>ACA394557416CREBBPc.5268G>T (p.Gln1756His)
c.5154G>T (p.Gln1718His)
c.5223G>T (p.Gln1741His)
c.4851G>T (p.Gln1617His)
c.5007G>T (p.Gln1669His)
c.5214G>T (p.Gln1738His)
c.4515G>T (p.Gln1505His)
c.5262G>T (p.Gln1754His)
dbSNP
16g.3729779C=CA2202916526CREBBPc.5268G= (p.Gln1756=)
c.5154G= (p.Gln1718=)
c.5223G= (p.Gln1741=)
c.4851G= (p.Gln1617=)
c.5007G= (p.Gln1669=)
c.5214G= (p.Gln1738=)
c.4515G= (p.Gln1505=)
c.5262G= (p.Gln1754=)
16g.3729779C>GCA394557418CREBBPc.5268G>C (p.Gln1756His)
c.5154G>C (p.Gln1718His)
c.5223G>C (p.Gln1741His)
c.4851G>C (p.Gln1617His)
c.5007G>C (p.Gln1669His)
c.5214G>C (p.Gln1738His)
c.4515G>C (p.Gln1505His)
c.5262G>C (p.Gln1754His)
dbSNP
16g.3729779C>TCA493394262CREBBPc.5268G>A (p.Gln1756=)
c.5154G>A (p.Gln1718=)
c.5223G>A (p.Gln1741=)
c.4851G>A (p.Gln1617=)
c.5007G>A (p.Gln1669=)
c.5214G>A (p.Gln1738=)
c.4515G>A (p.Gln1505=)
c.5262G>A (p.Gln1754=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729779_3729785delinsCTGGCTGCA2202916525CREBBPc.5262_5268delinsCAGCCAG (p.Ser1754=)
c.5148_5154delinsCAGCCAG (p.Ser1716=)
c.5217_5223delinsCAGCCAG (p.Ser1739=)
c.4845_4851delinsCAGCCAG (p.Ser1615=)
c.5001_5007delinsCAGCCAG (p.Ser1667=)
c.5208_5214delinsCAGCCAG (p.Ser1736=)
c.4509_4515delinsCAGCCAG (p.Ser1503=)
c.5256_5262delinsCAGCCAG (p.Ser1752=)
16g.3729780T>ACA394557420CREBBPc.5267A>T (p.Gln1756Leu)
c.5153A>T (p.Gln1718Leu)
c.5222A>T (p.Gln1741Leu)
c.4850A>T (p.Gln1617Leu)
c.5006A>T (p.Gln1669Leu)
c.5213A>T (p.Gln1738Leu)
c.4514A>T (p.Gln1505Leu)
c.5261A>T (p.Gln1754Leu)
16g.3729780T>CCA7869300CREBBPc.5267A>G (p.Gln1756Arg)
c.5153A>G (p.Gln1718Arg)
c.5222A>G (p.Gln1741Arg)
c.4850A>G (p.Gln1617Arg)
c.5006A>G (p.Gln1669Arg)
c.5213A>G (p.Gln1738Arg)
c.4514A>G (p.Gln1505Arg)
c.5261A>G (p.Gln1754Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729780T>GCA394557423CREBBPc.5267A>C (p.Gln1756Pro)
c.5153A>C (p.Gln1718Pro)
c.5222A>C (p.Gln1741Pro)
c.4850A>C (p.Gln1617Pro)
c.5006A>C (p.Gln1669Pro)
c.5213A>C (p.Gln1738Pro)
c.4514A>C (p.Gln1505Pro)
c.5261A>C (p.Gln1754Pro)
16g.3729780T=CA2202916527CREBBPc.5267A= (p.Gln1756=)
c.5153A= (p.Gln1718=)
c.5222A= (p.Gln1741=)
c.4850A= (p.Gln1617=)
c.5006A= (p.Gln1669=)
c.5213A= (p.Gln1738=)
c.4514A= (p.Gln1505=)
c.5261A= (p.Gln1754=)
16g.3729780_3729781delCA645575163CREBBPc.5266_5267del (p.Gln1756GlyfsTer?)
c.5152_5153del (p.Gln1718GlyfsTer?)
c.5221_5222del (p.Gln1741GlyfsTer?)
c.4849_4850del (p.Gln1617GlyfsTer?)
c.5005_5006del (p.Gln1669GlyfsTer?)
c.5212_5213del (p.Gln1738GlyfsTer?)
c.4513_4514del (p.Gln1505GlyfsTer?)
c.5260_5261del (p.Gln1754GlyfsTer?)
COSMIC
16g.3729780_3729785delCA919643073CREBBPc.5262_5267del (p.Ser1754_Gln1756delinsArg)
c.5148_5153del (p.Ser1716_Gln1718delinsArg)
c.5217_5222del (p.Ser1739_Gln1741delinsArg)
c.4845_4850del (p.Ser1615_Gln1617delinsArg)
c.5001_5006del (p.Ser1667_Gln1669delinsArg)
c.5208_5213del (p.Ser1736_Gln1738delinsArg)
c.4509_4514del (p.Ser1503_Gln1505delinsArg)
c.5256_5261del (p.Ser1752_Gln1754delinsArg)
dbSNP
16g.3729781G>ACA394557425CREBBPc.5266C>T (p.Gln1756Ter)
c.5152C>T (p.Gln1718Ter)
c.5221C>T (p.Gln1741Ter)
c.4849C>T (p.Gln1617Ter)
c.5005C>T (p.Gln1669Ter)
c.5212C>T (p.Gln1738Ter)
c.4513C>T (p.Gln1505Ter)
c.5260C>T (p.Gln1754Ter)
COSMIC
16g.3729781G>CCA7869301CREBBPc.5266C>G (p.Gln1756Glu)
c.5152C>G (p.Gln1718Glu)
c.5221C>G (p.Gln1741Glu)
c.4849C>G (p.Gln1617Glu)
c.5005C>G (p.Gln1669Glu)
c.5212C>G (p.Gln1738Glu)
c.4513C>G (p.Gln1505Glu)
c.5260C>G (p.Gln1754Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729781G=CA2202916528CREBBPc.5266C= (p.Gln1756=)
c.5152C= (p.Gln1718=)
c.5221C= (p.Gln1741=)
c.4849C= (p.Gln1617=)
c.5005C= (p.Gln1669=)
c.5212C= (p.Gln1738=)
c.4513C= (p.Gln1505=)
c.5260C= (p.Gln1754=)
16g.3729781G>TCA394557427CREBBPc.5266C>A (p.Gln1756Lys)
c.5152C>A (p.Gln1718Lys)
c.5221C>A (p.Gln1741Lys)
c.4849C>A (p.Gln1617Lys)
c.5005C>A (p.Gln1669Lys)
c.5212C>A (p.Gln1738Lys)
c.4513C>A (p.Gln1505Lys)
c.5260C>A (p.Gln1754Lys)
gnomAD v4
16g.3729782G>ACA493394264CREBBPc.5265C>T (p.Ser1755=)
c.5151C>T (p.Ser1717=)
c.5220C>T (p.Ser1740=)
c.4848C>T (p.Ser1616=)
c.5004C>T (p.Ser1668=)
c.5211C>T (p.Ser1737=)
c.4512C>T (p.Ser1504=)
c.5259C>T (p.Ser1753=)
dbSNP
16g.3729782G>CCA394557428CREBBPc.5265C>G (p.Ser1755Arg)
c.5151C>G (p.Ser1717Arg)
c.5220C>G (p.Ser1740Arg)
c.4848C>G (p.Ser1616Arg)
c.5004C>G (p.Ser1668Arg)
c.5211C>G (p.Ser1737Arg)
c.4512C>G (p.Ser1504Arg)
c.5259C>G (p.Ser1753Arg)
dbSNP
16g.3729782G>TCA394557430CREBBPc.5265C>A (p.Ser1755Arg)
c.5151C>A (p.Ser1717Arg)
c.5220C>A (p.Ser1740Arg)
c.4848C>A (p.Ser1616Arg)
c.5004C>A (p.Ser1668Arg)
c.5211C>A (p.Ser1737Arg)
c.4512C>A (p.Ser1504Arg)
c.5259C>A (p.Ser1753Arg)
dbSNP gnomAD v4
16g.3729783C>ACA394557435CREBBPc.5264G>T (p.Ser1755Ile)
c.5150G>T (p.Ser1717Ile)
c.5219G>T (p.Ser1740Ile)
c.4847G>T (p.Ser1616Ile)
c.5003G>T (p.Ser1668Ile)
c.5210G>T (p.Ser1737Ile)
c.4511G>T (p.Ser1504Ile)
c.5258G>T (p.Ser1753Ile)
dbSNP
16g.3729783C=CA2202916529CREBBPc.5264G= (p.Ser1755=)
c.5150G= (p.Ser1717=)
c.5219G= (p.Ser1740=)
c.4847G= (p.Ser1616=)
c.5003G= (p.Ser1668=)
c.5210G= (p.Ser1737=)
c.4511G= (p.Ser1504=)
c.5258G= (p.Ser1753=)
16g.3729783C>GCA394557433CREBBPc.5264G>C (p.Ser1755Thr)
c.5150G>C (p.Ser1717Thr)
c.5219G>C (p.Ser1740Thr)
c.4847G>C (p.Ser1616Thr)
c.5003G>C (p.Ser1668Thr)
c.5210G>C (p.Ser1737Thr)
c.4511G>C (p.Ser1504Thr)
c.5258G>C (p.Ser1753Thr)
dbSNP
16g.3729783C>TCA7869302CREBBPc.5264G>A (p.Ser1755Asn)
c.5150G>A (p.Ser1717Asn)
c.5219G>A (p.Ser1740Asn)
c.4847G>A (p.Ser1616Asn)
c.5003G>A (p.Ser1668Asn)
c.5210G>A (p.Ser1737Asn)
c.4511G>A (p.Ser1504Asn)
c.5258G>A (p.Ser1753Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729784T>ACA394557437CREBBPc.5263A>T (p.Ser1755Cys)
c.5149A>T (p.Ser1717Cys)
c.5218A>T (p.Ser1740Cys)
c.4846A>T (p.Ser1616Cys)
c.5002A>T (p.Ser1668Cys)
c.5209A>T (p.Ser1737Cys)
c.4510A>T (p.Ser1504Cys)
c.5257A>T (p.Ser1753Cys)
dbSNP
16g.3729784T>CCA394557439CREBBPc.5263A>G (p.Ser1755Gly)
c.5149A>G (p.Ser1717Gly)
c.5218A>G (p.Ser1740Gly)
c.4846A>G (p.Ser1616Gly)
c.5002A>G (p.Ser1668Gly)
c.5209A>G (p.Ser1737Gly)
c.4510A>G (p.Ser1504Gly)
c.5257A>G (p.Ser1753Gly)
dbSNP gnomAD v4
16g.3729784T>GCA394557440CREBBPc.5263A>C (p.Ser1755Arg)
c.5149A>C (p.Ser1717Arg)
c.5218A>C (p.Ser1740Arg)
c.4846A>C (p.Ser1616Arg)
c.5002A>C (p.Ser1668Arg)
c.5209A>C (p.Ser1737Arg)
c.4510A>C (p.Ser1504Arg)
c.5257A>C (p.Ser1753Arg)
16g.3729784T=CA2202916530CREBBPc.5263A= (p.Ser1755=)
c.5149A= (p.Ser1717=)
c.5218A= (p.Ser1740=)
c.4846A= (p.Ser1616=)
c.5002A= (p.Ser1668=)
c.5209A= (p.Ser1737=)
c.4510A= (p.Ser1504=)
c.5257A= (p.Ser1753=)
16g.3729785G>ACA493394267CREBBPc.5262C>T (p.Ser1754=)
c.5148C>T (p.Ser1716=)
c.5217C>T (p.Ser1739=)
c.4845C>T (p.Ser1615=)
c.5001C>T (p.Ser1667=)
c.5208C>T (p.Ser1736=)
c.4509C>T (p.Ser1503=)
c.5256C>T (p.Ser1752=)
gnomAD v4
16g.3729785G>CCA394557443CREBBPc.5262C>G (p.Ser1754Arg)
c.5148C>G (p.Ser1716Arg)
c.5217C>G (p.Ser1739Arg)
c.4845C>G (p.Ser1615Arg)
c.5001C>G (p.Ser1667Arg)
c.5208C>G (p.Ser1736Arg)
c.4509C>G (p.Ser1503Arg)
c.5256C>G (p.Ser1752Arg)
dbSNP
16g.3729785G>TCA394557444CREBBPc.5262C>A (p.Ser1754Arg)
c.5148C>A (p.Ser1716Arg)
c.5217C>A (p.Ser1739Arg)
c.4845C>A (p.Ser1615Arg)
c.5001C>A (p.Ser1667Arg)
c.5208C>A (p.Ser1736Arg)
c.4509C>A (p.Ser1503Arg)
c.5256C>A (p.Ser1752Arg)
gnomAD v4
16g.3729786C>ACA394557448CREBBPc.5261G>T (p.Ser1754Ile)
c.5147G>T (p.Ser1716Ile)
c.5216G>T (p.Ser1739Ile)
c.4844G>T (p.Ser1615Ile)
c.5000G>T (p.Ser1667Ile)
c.5207G>T (p.Ser1736Ile)
c.4508G>T (p.Ser1503Ile)
c.5255G>T (p.Ser1752Ile)
16g.3729786C>GCA394557450CREBBPc.5261G>C (p.Ser1754Thr)
c.5147G>C (p.Ser1716Thr)
c.5216G>C (p.Ser1739Thr)
c.4844G>C (p.Ser1615Thr)
c.5000G>C (p.Ser1667Thr)
c.5207G>C (p.Ser1736Thr)
c.4508G>C (p.Ser1503Thr)
c.5255G>C (p.Ser1752Thr)
dbSNP
16g.3729786C>TCA394557452CREBBPc.5261G>A (p.Ser1754Asn)
c.5147G>A (p.Ser1716Asn)
c.5216G>A (p.Ser1739Asn)
c.4844G>A (p.Ser1615Asn)
c.5000G>A (p.Ser1667Asn)
c.5207G>A (p.Ser1736Asn)
c.4508G>A (p.Ser1503Asn)
c.5255G>A (p.Ser1752Asn)
dbSNP gnomAD v4 COSMIC
16g.3729787T>ACA394557453CREBBPc.5260A>T (p.Ser1754Cys)
c.5146A>T (p.Ser1716Cys)
c.5215A>T (p.Ser1739Cys)
c.4843A>T (p.Ser1615Cys)
c.4999A>T (p.Ser1667Cys)
c.5206A>T (p.Ser1736Cys)
c.4507A>T (p.Ser1503Cys)
c.5254A>T (p.Ser1752Cys)
dbSNP
16g.3729787T>CCA394557455CREBBPc.5260A>G (p.Ser1754Gly)
c.5146A>G (p.Ser1716Gly)
c.5215A>G (p.Ser1739Gly)
c.4843A>G (p.Ser1615Gly)
c.4999A>G (p.Ser1667Gly)
c.5206A>G (p.Ser1736Gly)
c.4507A>G (p.Ser1503Gly)
c.5254A>G (p.Ser1752Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729787T>GCA394557457CREBBPc.5260A>C (p.Ser1754Arg)
c.5146A>C (p.Ser1716Arg)
c.5215A>C (p.Ser1739Arg)
c.4843A>C (p.Ser1615Arg)
c.4999A>C (p.Ser1667Arg)
c.5206A>C (p.Ser1736Arg)
c.4507A>C (p.Ser1503Arg)
c.5254A>C (p.Ser1752Arg)
16g.3729787T=CA2202916531CREBBPc.5260A= (p.Ser1754=)
c.5146A= (p.Ser1716=)
c.5215A= (p.Ser1739=)
c.4843A= (p.Ser1615=)
c.4999A= (p.Ser1667=)
c.5206A= (p.Ser1736=)
c.4507A= (p.Ser1503=)
c.5254A= (p.Ser1752=)
16g.3729788G>ACA493394269CREBBPc.5259C>T (p.Gly1753=)
c.5145C>T (p.Gly1715=)
c.5214C>T (p.Gly1738=)
c.4842C>T (p.Gly1614=)
c.4998C>T (p.Gly1666=)
c.5205C>T (p.Gly1735=)
c.4506C>T (p.Gly1502=)
c.5253C>T (p.Gly1751=)
gnomAD v4
16g.3729788G>CCA493394271CREBBPc.5259C>G (p.Gly1753=)
c.5145C>G (p.Gly1715=)
c.5214C>G (p.Gly1738=)
c.4842C>G (p.Gly1614=)
c.4998C>G (p.Gly1666=)
c.5205C>G (p.Gly1735=)
c.4506C>G (p.Gly1502=)
c.5253C>G (p.Gly1751=)
dbSNP
16g.3729788G=CA2202916532CREBBPc.5259C= (p.Gly1753=)
c.5145C= (p.Gly1715=)
c.5214C= (p.Gly1738=)
c.4842C= (p.Gly1614=)
c.4998C= (p.Gly1666=)
c.5205C= (p.Gly1735=)
c.4506C= (p.Gly1502=)
c.5253C= (p.Gly1751=)
16g.3729788G>TCA493394272CREBBPc.5259C>A (p.Gly1753=)
c.5145C>A (p.Gly1715=)
c.5214C>A (p.Gly1738=)
c.4842C>A (p.Gly1614=)
c.4998C>A (p.Gly1666=)
c.5205C>A (p.Gly1735=)
c.4506C>A (p.Gly1502=)
c.5253C>A (p.Gly1751=)
gnomAD v4
16g.3729789C>ACA394557462CREBBPc.5258G>T (p.Gly1753Val)
c.5144G>T (p.Gly1715Val)
c.5213G>T (p.Gly1738Val)
c.4841G>T (p.Gly1614Val)
c.4997G>T (p.Gly1666Val)
c.5204G>T (p.Gly1735Val)
c.4505G>T (p.Gly1502Val)
c.5252G>T (p.Gly1751Val)
16g.3729789C>GCA394557463CREBBPc.5258G>C (p.Gly1753Ala)
c.5144G>C (p.Gly1715Ala)
c.5213G>C (p.Gly1738Ala)
c.4841G>C (p.Gly1614Ala)
c.4997G>C (p.Gly1666Ala)
c.5204G>C (p.Gly1735Ala)
c.4505G>C (p.Gly1502Ala)
c.5252G>C (p.Gly1751Ala)
16g.3729789C>TCA394557460CREBBPc.5258G>A (p.Gly1753Asp)
c.5144G>A (p.Gly1715Asp)
c.5213G>A (p.Gly1738Asp)
c.4841G>A (p.Gly1614Asp)
c.4997G>A (p.Gly1666Asp)
c.5204G>A (p.Gly1735Asp)
c.4505G>A (p.Gly1502Asp)
c.5252G>A (p.Gly1751Asp)
16g.3729790C>ACA394557466CREBBPc.5257G>T (p.Gly1753Cys)
c.5143G>T (p.Gly1715Cys)
c.5212G>T (p.Gly1738Cys)
c.4840G>T (p.Gly1614Cys)
c.4996G>T (p.Gly1666Cys)
c.5203G>T (p.Gly1735Cys)
c.4504G>T (p.Gly1502Cys)
c.5251G>T (p.Gly1751Cys)
16g.3729790C>GCA394557468CREBBPc.5257G>C (p.Gly1753Arg)
c.5143G>C (p.Gly1715Arg)
c.5212G>C (p.Gly1738Arg)
c.4840G>C (p.Gly1614Arg)
c.4996G>C (p.Gly1666Arg)
c.5203G>C (p.Gly1735Arg)
c.4504G>C (p.Gly1502Arg)
c.5251G>C (p.Gly1751Arg)
dbSNP
16g.3729790C>TCA394557469CREBBPc.5257G>A (p.Gly1753Ser)
c.5143G>A (p.Gly1715Ser)
c.5212G>A (p.Gly1738Ser)
c.4840G>A (p.Gly1614Ser)
c.4996G>A (p.Gly1666Ser)
c.5203G>A (p.Gly1735Ser)
c.4504G>A (p.Gly1502Ser)
c.5251G>A (p.Gly1751Ser)
dbSNP
16g.3729791C>ACA394557471CREBBPc.5256G>T (p.Glu1752Asp)
c.5142G>T (p.Glu1714Asp)
c.5211G>T (p.Glu1737Asp)
c.4839G>T (p.Glu1613Asp)
c.4995G>T (p.Glu1665Asp)
c.5202G>T (p.Glu1734Asp)
c.4503G>T (p.Glu1501Asp)
c.5250G>T (p.Glu1750Asp)
dbSNP
16g.3729791C=CA2202916533CREBBPc.5256G= (p.Glu1752=)
c.5142G= (p.Glu1714=)
c.5211G= (p.Glu1737=)
c.4839G= (p.Glu1613=)
c.4995G= (p.Glu1665=)
c.5202G= (p.Glu1734=)
c.4503G= (p.Glu1501=)
c.5250G= (p.Glu1750=)
16g.3729791C>GCA394557472CREBBPc.5256G>C (p.Glu1752Asp)
c.5142G>C (p.Glu1714Asp)
c.5211G>C (p.Glu1737Asp)
c.4839G>C (p.Glu1613Asp)
c.4995G>C (p.Glu1665Asp)
c.5202G>C (p.Glu1734Asp)
c.4503G>C (p.Glu1501Asp)
c.5250G>C (p.Glu1750Asp)
dbSNP
16g.3729791C>TCA493394275CREBBPc.5256G>A (p.Glu1752=)
c.5142G>A (p.Glu1714=)
c.5211G>A (p.Glu1737=)
c.4839G>A (p.Glu1613=)
c.4995G>A (p.Glu1665=)
c.5202G>A (p.Glu1734=)
c.4503G>A (p.Glu1501=)
c.5250G>A (p.Glu1750=)
dbSNP gnomAD v2 gnomAD v4
16g.3729792T>ACA394557474CREBBPc.5255A>T (p.Glu1752Val)
c.5141A>T (p.Glu1714Val)
c.5210A>T (p.Glu1737Val)
c.4838A>T (p.Glu1613Val)
c.4994A>T (p.Glu1665Val)
c.5201A>T (p.Glu1734Val)
c.4502A>T (p.Glu1501Val)
c.5249A>T (p.Glu1750Val)
dbSNP
16g.3729792T>CCA394557475CREBBPc.5255A>G (p.Glu1752Gly)
c.5141A>G (p.Glu1714Gly)
c.5210A>G (p.Glu1737Gly)
c.4838A>G (p.Glu1613Gly)
c.4994A>G (p.Glu1665Gly)
c.5201A>G (p.Glu1734Gly)
c.4502A>G (p.Glu1501Gly)
c.5249A>G (p.Glu1750Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729792T>GCA394557476CREBBPc.5255A>C (p.Glu1752Ala)
c.5141A>C (p.Glu1714Ala)
c.5210A>C (p.Glu1737Ala)
c.4838A>C (p.Glu1613Ala)
c.4994A>C (p.Glu1665Ala)
c.5201A>C (p.Glu1734Ala)
c.4502A>C (p.Glu1501Ala)
c.5249A>C (p.Glu1750Ala)
16g.3729792T=CA2202916534CREBBPc.5255A= (p.Glu1752=)
c.5141A= (p.Glu1714=)
c.5210A= (p.Glu1737=)
c.4838A= (p.Glu1613=)
c.4994A= (p.Glu1665=)
c.5201A= (p.Glu1734=)
c.4502A= (p.Glu1501=)
c.5249A= (p.Glu1750=)
16g.3729793C>ACA394557479CREBBPc.5254G>T (p.Glu1752Ter)
c.5140G>T (p.Glu1714Ter)
c.5209G>T (p.Glu1737Ter)
c.4837G>T (p.Glu1613Ter)
c.4993G>T (p.Glu1665Ter)
c.5200G>T (p.Glu1734Ter)
c.4501G>T (p.Glu1501Ter)
c.5248G>T (p.Glu1750Ter)
dbSNP
16g.3729793C=CA2202916535CREBBPc.5254G= (p.Glu1752=)
c.5140G= (p.Glu1714=)
c.5209G= (p.Glu1737=)
c.4837G= (p.Glu1613=)
c.4993G= (p.Glu1665=)
c.5200G= (p.Glu1734=)
c.4501G= (p.Glu1501=)
c.5248G= (p.Glu1750=)
16g.3729793C>GCA394557481CREBBPc.5254G>C (p.Glu1752Gln)
c.5140G>C (p.Glu1714Gln)
c.5209G>C (p.Glu1737Gln)
c.4837G>C (p.Glu1613Gln)
c.4993G>C (p.Glu1665Gln)
c.5200G>C (p.Glu1734Gln)
c.4501G>C (p.Glu1501Gln)
c.5248G>C (p.Glu1750Gln)
dbSNP
16g.3729793C>TCA276972314CREBBPc.5254G>A (p.Glu1752Lys)
c.5140G>A (p.Glu1714Lys)
c.5209G>A (p.Glu1737Lys)
c.4837G>A (p.Glu1613Lys)
c.4993G>A (p.Glu1665Lys)
c.5200G>A (p.Glu1734Lys)
c.4501G>A (p.Glu1501Lys)
c.5248G>A (p.Glu1750Lys)
dbSNP gnomAD v4
16g.3729794G>ACA493394279CREBBPc.5253C>T (p.Asp1751=)
c.5139C>T (p.Asp1713=)
c.5208C>T (p.Asp1736=)
c.4836C>T (p.Asp1612=)
c.4992C>T (p.Asp1664=)
c.5199C>T (p.Asp1733=)
c.4500C>T (p.Asp1500=)
c.5247C>T (p.Asp1749=)
dbSNP gnomAD v4
16g.3729794G>CCA394557483CREBBPc.5253C>G (p.Asp1751Glu)
c.5139C>G (p.Asp1713Glu)
c.5208C>G (p.Asp1736Glu)
c.4836C>G (p.Asp1612Glu)
c.4992C>G (p.Asp1664Glu)
c.5199C>G (p.Asp1733Glu)
c.4500C>G (p.Asp1500Glu)
c.5247C>G (p.Asp1749Glu)
dbSNP
16g.3729794G=CA2202916536CREBBPc.5253C= (p.Asp1751=)
c.5139C= (p.Asp1713=)
c.5208C= (p.Asp1736=)
c.4836C= (p.Asp1612=)
c.4992C= (p.Asp1664=)
c.5199C= (p.Asp1733=)
c.4500C= (p.Asp1500=)
c.5247C= (p.Asp1749=)
16g.3729794G>TCA394557485CREBBPc.5253C>A (p.Asp1751Glu)
c.5139C>A (p.Asp1713Glu)
c.5208C>A (p.Asp1736Glu)
c.4836C>A (p.Asp1612Glu)
c.4992C>A (p.Asp1664Glu)
c.5199C>A (p.Asp1733Glu)
c.4500C>A (p.Asp1500Glu)
c.5247C>A (p.Asp1749Glu)
gnomAD v4
16g.3729795T>ACA394557491CREBBPc.5252A>T (p.Asp1751Val)
c.5138A>T (p.Asp1713Val)
c.5207A>T (p.Asp1736Val)
c.4835A>T (p.Asp1612Val)
c.4991A>T (p.Asp1664Val)
c.5198A>T (p.Asp1733Val)
c.4499A>T (p.Asp1500Val)
c.5246A>T (p.Asp1749Val)
dbSNP
16g.3729795T>CCA394557489CREBBPc.5252A>G (p.Asp1751Gly)
c.5138A>G (p.Asp1713Gly)
c.5207A>G (p.Asp1736Gly)
c.4835A>G (p.Asp1612Gly)
c.4991A>G (p.Asp1664Gly)
c.5198A>G (p.Asp1733Gly)
c.4499A>G (p.Asp1500Gly)
c.5246A>G (p.Asp1749Gly)
dbSNP gnomAD v2 gnomAD v4
16g.3729795T>GCA394557487CREBBPc.5252A>C (p.Asp1751Ala)
c.5138A>C (p.Asp1713Ala)
c.5207A>C (p.Asp1736Ala)
c.4835A>C (p.Asp1612Ala)
c.4991A>C (p.Asp1664Ala)
c.5198A>C (p.Asp1733Ala)
c.4499A>C (p.Asp1500Ala)
c.5246A>C (p.Asp1749Ala)
dbSNP
16g.3729795T=CA2202916537CREBBPc.5252A= (p.Asp1751=)
c.5138A= (p.Asp1713=)
c.5207A= (p.Asp1736=)
c.4835A= (p.Asp1612=)
c.4991A= (p.Asp1664=)
c.5198A= (p.Asp1733=)
c.4499A= (p.Asp1500=)
c.5246A= (p.Asp1749=)
16g.3729796C>ACA394557493CREBBPc.5251G>T (p.Asp1751Tyr)
c.5137G>T (p.Asp1713Tyr)
c.5206G>T (p.Asp1736Tyr)
c.4834G>T (p.Asp1612Tyr)
c.4990G>T (p.Asp1664Tyr)
c.5197G>T (p.Asp1733Tyr)
c.4498G>T (p.Asp1500Tyr)
c.5245G>T (p.Asp1749Tyr)
dbSNP
16g.3729796C>GCA394557494CREBBPc.5251G>C (p.Asp1751His)
c.5137G>C (p.Asp1713His)
c.5206G>C (p.Asp1736His)
c.4834G>C (p.Asp1612His)
c.4990G>C (p.Asp1664His)
c.5197G>C (p.Asp1733His)
c.4498G>C (p.Asp1500His)
c.5245G>C (p.Asp1749His)
dbSNP gnomAD v4
16g.3729796C>TCA394557496CREBBPc.5251G>A (p.Asp1751Asn)
c.5137G>A (p.Asp1713Asn)
c.5206G>A (p.Asp1736Asn)
c.4834G>A (p.Asp1612Asn)
c.4990G>A (p.Asp1664Asn)
c.5197G>A (p.Asp1733Asn)
c.4498G>A (p.Asp1500Asn)
c.5245G>A (p.Asp1749Asn)
dbSNP
16g.3729797A=CA2202916538CREBBPc.5250T= (p.Asp1750=)
c.5136T= (p.Asp1712=)
c.5205T= (p.Asp1735=)
c.4833T= (p.Asp1611=)
c.4989T= (p.Asp1663=)
c.5196T= (p.Asp1732=)
c.4497T= (p.Asp1499=)
c.5244T= (p.Asp1748=)
16g.3729797A>CCA394557498CREBBPc.5250T>G (p.Asp1750Glu)
c.5136T>G (p.Asp1712Glu)
c.5205T>G (p.Asp1735Glu)
c.4833T>G (p.Asp1611Glu)
c.4989T>G (p.Asp1663Glu)
c.5196T>G (p.Asp1732Glu)
c.4497T>G (p.Asp1499Glu)
c.5244T>G (p.Asp1748Glu)
dbSNP
16g.3729797A>GCA7869303CREBBPc.5250T>C (p.Asp1750=)
c.5136T>C (p.Asp1712=)
c.5205T>C (p.Asp1735=)
c.4833T>C (p.Asp1611=)
c.4989T>C (p.Asp1663=)
c.5196T>C (p.Asp1732=)
c.4497T>C (p.Asp1499=)
c.5244T>C (p.Asp1748=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729797A>TCA394557501CREBBPc.5250T>A (p.Asp1750Glu)
c.5136T>A (p.Asp1712Glu)
c.5205T>A (p.Asp1735Glu)
c.4833T>A (p.Asp1611Glu)
c.4989T>A (p.Asp1663Glu)
c.5196T>A (p.Asp1732Glu)
c.4497T>A (p.Asp1499Glu)
c.5244T>A (p.Asp1748Glu)
dbSNP
16g.3729798T>ACA394557504CREBBPc.5249A>T (p.Asp1750Val)
c.5135A>T (p.Asp1712Val)
c.5204A>T (p.Asp1735Val)
c.4832A>T (p.Asp1611Val)
c.4988A>T (p.Asp1663Val)
c.5195A>T (p.Asp1732Val)
c.4496A>T (p.Asp1499Val)
c.5243A>T (p.Asp1748Val)
16g.3729798T>CCA394557505CREBBPc.5249A>G (p.Asp1750Gly)
c.5135A>G (p.Asp1712Gly)
c.5204A>G (p.Asp1735Gly)
c.4832A>G (p.Asp1611Gly)
c.4988A>G (p.Asp1663Gly)
c.5195A>G (p.Asp1732Gly)
c.4496A>G (p.Asp1499Gly)
c.5243A>G (p.Asp1748Gly)
16g.3729798T>GCA394557507CREBBPc.5249A>C (p.Asp1750Ala)
c.5135A>C (p.Asp1712Ala)
c.5204A>C (p.Asp1735Ala)
c.4832A>C (p.Asp1611Ala)
c.4988A>C (p.Asp1663Ala)
c.5195A>C (p.Asp1732Ala)
c.4496A>C (p.Asp1499Ala)
c.5243A>C (p.Asp1748Ala)
16g.3729799C>ACA394557509CREBBPc.5248G>T (p.Asp1750Tyr)
c.5134G>T (p.Asp1712Tyr)
c.5203G>T (p.Asp1735Tyr)
c.4831G>T (p.Asp1611Tyr)
c.4987G>T (p.Asp1663Tyr)
c.5194G>T (p.Asp1732Tyr)
c.4495G>T (p.Asp1499Tyr)
c.5242G>T (p.Asp1748Tyr)
dbSNP gnomAD v4
16g.3729799C=CA2202916539CREBBPc.5248G= (p.Asp1750=)
c.5134G= (p.Asp1712=)
c.5203G= (p.Asp1735=)
c.4831G= (p.Asp1611=)
c.4987G= (p.Asp1663=)
c.5194G= (p.Asp1732=)
c.4495G= (p.Asp1499=)
c.5242G= (p.Asp1748=)
16g.3729799C>GCA394557511CREBBPc.5248G>C (p.Asp1750His)
c.5134G>C (p.Asp1712His)
c.5203G>C (p.Asp1735His)
c.4831G>C (p.Asp1611His)
c.4987G>C (p.Asp1663His)
c.5194G>C (p.Asp1732His)
c.4495G>C (p.Asp1499His)
c.5242G>C (p.Asp1748His)
dbSNP
16g.3729799C>TCA394557513CREBBPc.5248G>A (p.Asp1750Asn)
c.5134G>A (p.Asp1712Asn)
c.5203G>A (p.Asp1735Asn)
c.4831G>A (p.Asp1611Asn)
c.4987G>A (p.Asp1663Asn)
c.5194G>A (p.Asp1732Asn)
c.4495G>A (p.Asp1499Asn)
c.5242G>A (p.Asp1748Asn)
dbSNP gnomAD v2 gnomAD v4
16g.3729800C>ACA493394286CREBBPc.5247G>T (p.Leu1749=)
c.5133G>T (p.Leu1711=)
c.5202G>T (p.Leu1734=)
c.4830G>T (p.Leu1610=)
c.4986G>T (p.Leu1662=)
c.5193G>T (p.Leu1731=)
c.4494G>T (p.Leu1498=)
c.5241G>T (p.Leu1747=)
16g.3729800C=CA2202916540CREBBPc.5247G= (p.Leu1749=)
c.5133G= (p.Leu1711=)
c.5202G= (p.Leu1734=)
c.4830G= (p.Leu1610=)
c.4986G= (p.Leu1662=)
c.5193G= (p.Leu1731=)
c.4494G= (p.Leu1498=)
c.5241G= (p.Leu1747=)
16g.3729800C>GCA493394284CREBBPc.5247G>C (p.Leu1749=)
c.5133G>C (p.Leu1711=)
c.5202G>C (p.Leu1734=)
c.4830G>C (p.Leu1610=)
c.4986G>C (p.Leu1662=)
c.5193G>C (p.Leu1731=)
c.4494G>C (p.Leu1498=)
c.5241G>C (p.Leu1747=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729800C>TCA493394285CREBBPc.5247G>A (p.Leu1749=)
c.5133G>A (p.Leu1711=)
c.5202G>A (p.Leu1734=)
c.4830G>A (p.Leu1610=)
c.4986G>A (p.Leu1662=)
c.5193G>A (p.Leu1731=)
c.4494G>A (p.Leu1498=)
c.5241G>A (p.Leu1747=)
dbSNP
16g.3729801A>CCA394557518CREBBPc.5246T>G (p.Leu1749Arg)
c.5132T>G (p.Leu1711Arg)
c.5201T>G (p.Leu1734Arg)
c.4829T>G (p.Leu1610Arg)
c.4985T>G (p.Leu1662Arg)
c.5192T>G (p.Leu1731Arg)
c.4493T>G (p.Leu1498Arg)
c.5240T>G (p.Leu1747Arg)
16g.3729801A>GCA394557517CREBBPc.5246T>C (p.Leu1749Pro)
c.5132T>C (p.Leu1711Pro)
c.5201T>C (p.Leu1734Pro)
c.4829T>C (p.Leu1610Pro)
c.4985T>C (p.Leu1662Pro)
c.5192T>C (p.Leu1731Pro)
c.4493T>C (p.Leu1498Pro)
c.5240T>C (p.Leu1747Pro)
dbSNP
16g.3729801A>TCA394557515CREBBPc.5246T>A (p.Leu1749Gln)
c.5132T>A (p.Leu1711Gln)
c.5201T>A (p.Leu1734Gln)
c.4829T>A (p.Leu1610Gln)
c.4985T>A (p.Leu1662Gln)
c.5192T>A (p.Leu1731Gln)
c.4493T>A (p.Leu1498Gln)
c.5240T>A (p.Leu1747Gln)
dbSNP
16g.3729802G>ACA7869304CREBBPc.5245C>T (p.Leu1749=)
c.5131C>T (p.Leu1711=)
c.5200C>T (p.Leu1734=)
c.4828C>T (p.Leu1610=)
c.4984C>T (p.Leu1662=)
c.5191C>T (p.Leu1731=)
c.4492C>T (p.Leu1498=)
c.5239C>T (p.Leu1747=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729802G>CCA394557524CREBBPc.5245C>G (p.Leu1749Val)
c.5131C>G (p.Leu1711Val)
c.5200C>G (p.Leu1734Val)
c.4828C>G (p.Leu1610Val)
c.4984C>G (p.Leu1662Val)
c.5191C>G (p.Leu1731Val)
c.4492C>G (p.Leu1498Val)
c.5239C>G (p.Leu1747Val)
ClinVar dbSNP
16g.3729802G=CA2202916541CREBBPc.5245C= (p.Leu1749=)
c.5131C= (p.Leu1711=)
c.5200C= (p.Leu1734=)
c.4828C= (p.Leu1610=)
c.4984C= (p.Leu1662=)
c.5191C= (p.Leu1731=)
c.4492C= (p.Leu1498=)
c.5239C= (p.Leu1747=)
16g.3729802G>TCA394557522CREBBPc.5245C>A (p.Leu1749Met)
c.5131C>A (p.Leu1711Met)
c.5200C>A (p.Leu1734Met)
c.4828C>A (p.Leu1610Met)
c.4984C>A (p.Leu1662Met)
c.5191C>A (p.Leu1731Met)
c.4492C>A (p.Leu1498Met)
c.5239C>A (p.Leu1747Met)
dbSNP gnomAD v4
16g.3729803G>ACA493394291CREBBPc.5244C>T (p.Gly1748=)
c.5130C>T (p.Gly1710=)
c.5199C>T (p.Gly1733=)
c.4827C>T (p.Gly1609=)
c.4983C>T (p.Gly1661=)
c.5190C>T (p.Gly1730=)
c.4491C>T (p.Gly1497=)
c.5238C>T (p.Gly1746=)
gnomAD v4
16g.3729803G>CCA493394292CREBBPc.5244C>G (p.Gly1748=)
c.5130C>G (p.Gly1710=)
c.5199C>G (p.Gly1733=)
c.4827C>G (p.Gly1609=)
c.4983C>G (p.Gly1661=)
c.5190C>G (p.Gly1730=)
c.4491C>G (p.Gly1497=)
c.5238C>G (p.Gly1746=)
16g.3729803G>TCA493394293CREBBPc.5244C>A (p.Gly1748=)
c.5130C>A (p.Gly1710=)
c.5199C>A (p.Gly1733=)
c.4827C>A (p.Gly1609=)
c.4983C>A (p.Gly1661=)
c.5190C>A (p.Gly1730=)
c.4491C>A (p.Gly1497=)
c.5238C>A (p.Gly1746=)
gnomAD v4
16g.3729804C>ACA394557526CREBBPc.5243G>T (p.Gly1748Val)
c.5129G>T (p.Gly1710Val)
c.5198G>T (p.Gly1733Val)
c.4826G>T (p.Gly1609Val)
c.4982G>T (p.Gly1661Val)
c.5189G>T (p.Gly1730Val)
c.4490G>T (p.Gly1497Val)
c.5237G>T (p.Gly1746Val)
dbSNP gnomAD v4
16g.3729804C=CA2202916542CREBBPc.5243G= (p.Gly1748=)
c.5129G= (p.Gly1710=)
c.5198G= (p.Gly1733=)
c.4826G= (p.Gly1609=)
c.4982G= (p.Gly1661=)
c.5189G= (p.Gly1730=)
c.4490G= (p.Gly1497=)
c.5237G= (p.Gly1746=)
16g.3729804C>GCA394557528CREBBPc.5243G>C (p.Gly1748Ala)
c.5129G>C (p.Gly1710Ala)
c.5198G>C (p.Gly1733Ala)
c.4826G>C (p.Gly1609Ala)
c.4982G>C (p.Gly1661Ala)
c.5189G>C (p.Gly1730Ala)
c.4490G>C (p.Gly1497Ala)
c.5237G>C (p.Gly1746Ala)
dbSNP
16g.3729804C>TCA394557530CREBBPc.5243G>A (p.Gly1748Asp)
c.5129G>A (p.Gly1710Asp)
c.5198G>A (p.Gly1733Asp)
c.4826G>A (p.Gly1609Asp)
c.4982G>A (p.Gly1661Asp)
c.5189G>A (p.Gly1730Asp)
c.4490G>A (p.Gly1497Asp)
c.5237G>A (p.Gly1746Asp)
dbSNP
16g.3729805C>ACA394557532CREBBPc.5242G>T (p.Gly1748Cys)
c.5128G>T (p.Gly1710Cys)
c.5197G>T (p.Gly1733Cys)
c.4825G>T (p.Gly1609Cys)
c.4981G>T (p.Gly1661Cys)
c.5188G>T (p.Gly1730Cys)
c.4489G>T (p.Gly1497Cys)
c.5236G>T (p.Gly1746Cys)
ClinVar
16g.3729805C>GCA394557533CREBBPc.5242G>C (p.Gly1748Arg)
c.5128G>C (p.Gly1710Arg)
c.5197G>C (p.Gly1733Arg)
c.4825G>C (p.Gly1609Arg)
c.4981G>C (p.Gly1661Arg)
c.5188G>C (p.Gly1730Arg)
c.4489G>C (p.Gly1497Arg)
c.5236G>C (p.Gly1746Arg)
16g.3729805C>TCA394557535CREBBPc.5242G>A (p.Gly1748Ser)
c.5128G>A (p.Gly1710Ser)
c.5197G>A (p.Gly1733Ser)
c.4825G>A (p.Gly1609Ser)
c.4981G>A (p.Gly1661Ser)
c.5188G>A (p.Gly1730Ser)
c.4489G>A (p.Gly1497Ser)
c.5236G>A (p.Gly1746Ser)
16g.3729806C>ACA276972329CREBBPc.5241G>T (p.Leu1747=)
c.5127G>T (p.Leu1709=)
c.5196G>T (p.Leu1732=)
c.4824G>T (p.Leu1608=)
c.4980G>T (p.Leu1660=)
c.5187G>T (p.Leu1729=)
c.4488G>T (p.Leu1496=)
c.5235G>T (p.Leu1745=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729806C=CA2202916543CREBBPc.5241G= (p.Leu1747=)
c.5127G= (p.Leu1709=)
c.5196G= (p.Leu1732=)
c.4824G= (p.Leu1608=)
c.4980G= (p.Leu1660=)
c.5187G= (p.Leu1729=)
c.4488G= (p.Leu1496=)
c.5235G= (p.Leu1745=)
16g.3729806C>GCA493394295CREBBPc.5241G>C (p.Leu1747=)
c.5127G>C (p.Leu1709=)
c.5196G>C (p.Leu1732=)
c.4824G>C (p.Leu1608=)
c.4980G>C (p.Leu1660=)
c.5187G>C (p.Leu1729=)
c.4488G>C (p.Leu1496=)
c.5235G>C (p.Leu1745=)
dbSNP
16g.3729806C>TCA493394296CREBBPc.5241G>A (p.Leu1747=)
c.5127G>A (p.Leu1709=)
c.5196G>A (p.Leu1732=)
c.4824G>A (p.Leu1608=)
c.4980G>A (p.Leu1660=)
c.5187G>A (p.Leu1729=)
c.4488G>A (p.Leu1496=)
c.5235G>A (p.Leu1745=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729807A>CCA394557537CREBBPc.5240T>G (p.Leu1747Arg)
c.5126T>G (p.Leu1709Arg)
c.5195T>G (p.Leu1732Arg)
c.4823T>G (p.Leu1608Arg)
c.4979T>G (p.Leu1660Arg)
c.5186T>G (p.Leu1729Arg)
c.4487T>G (p.Leu1496Arg)
c.5234T>G (p.Leu1745Arg)
dbSNP
16g.3729807A>GCA394557539CREBBPc.5240T>C (p.Leu1747Pro)
c.5126T>C (p.Leu1709Pro)
c.5195T>C (p.Leu1732Pro)
c.4823T>C (p.Leu1608Pro)
c.4979T>C (p.Leu1660Pro)
c.5186T>C (p.Leu1729Pro)
c.4487T>C (p.Leu1496Pro)
c.5234T>C (p.Leu1745Pro)
dbSNP
16g.3729807A>TCA394557540CREBBPc.5240T>A (p.Leu1747Gln)
c.5126T>A (p.Leu1709Gln)
c.5195T>A (p.Leu1732Gln)
c.4823T>A (p.Leu1608Gln)
c.4979T>A (p.Leu1660Gln)
c.5186T>A (p.Leu1729Gln)
c.4487T>A (p.Leu1496Gln)
c.5234T>A (p.Leu1745Gln)
dbSNP
16g.3729808G>ACA493394297CREBBPc.5239C>T (p.Leu1747=)
c.5125C>T (p.Leu1709=)
c.5194C>T (p.Leu1732=)
c.4822C>T (p.Leu1608=)
c.4978C>T (p.Leu1660=)
c.5185C>T (p.Leu1729=)
c.4486C>T (p.Leu1496=)
c.5233C>T (p.Leu1745=)
dbSNP gnomAD v4
16g.3729808G>CCA394557542CREBBPc.5239C>G (p.Leu1747Val)
c.5125C>G (p.Leu1709Val)
c.5194C>G (p.Leu1732Val)
c.4822C>G (p.Leu1608Val)
c.4978C>G (p.Leu1660Val)
c.5185C>G (p.Leu1729Val)
c.4486C>G (p.Leu1496Val)
c.5233C>G (p.Leu1745Val)
16g.3729808G=CA2202916544CREBBPc.5239C= (p.Leu1747=)
c.5125C= (p.Leu1709=)
c.5194C= (p.Leu1732=)
c.4822C= (p.Leu1608=)
c.4978C= (p.Leu1660=)
c.5185C= (p.Leu1729=)
c.4486C= (p.Leu1496=)
c.5233C= (p.Leu1745=)
16g.3729808G>TCA394557544CREBBPc.5239C>A (p.Leu1747Met)
c.5125C>A (p.Leu1709Met)
c.5194C>A (p.Leu1732Met)
c.4822C>A (p.Leu1608Met)
c.4978C>A (p.Leu1660Met)
c.5185C>A (p.Leu1729Met)
c.4486C>A (p.Leu1496Met)
c.5233C>A (p.Leu1745Met)
gnomAD v4
16g.3729809C>ACA493394298CREBBPc.5238G>T (p.Gly1746=)
c.5124G>T (p.Gly1708=)
c.5193G>T (p.Gly1731=)
c.4821G>T (p.Gly1607=)
c.4977G>T (p.Gly1659=)
c.5184G>T (p.Gly1728=)
c.4485G>T (p.Gly1495=)
c.5232G>T (p.Gly1744=)
ClinVar dbSNP
16g.3729809C>GCA493394299CREBBPc.5238G>C (p.Gly1746=)
c.5124G>C (p.Gly1708=)
c.5193G>C (p.Gly1731=)
c.4821G>C (p.Gly1607=)
c.4977G>C (p.Gly1659=)
c.5184G>C (p.Gly1728=)
c.4485G>C (p.Gly1495=)
c.5232G>C (p.Gly1744=)
gnomAD v4
16g.3729809C>TCA493394300CREBBPc.5238G>A (p.Gly1746=)
c.5124G>A (p.Gly1708=)
c.5193G>A (p.Gly1731=)
c.4821G>A (p.Gly1607=)
c.4977G>A (p.Gly1659=)
c.5184G>A (p.Gly1728=)
c.4485G>A (p.Gly1495=)
c.5232G>A (p.Gly1744=)
dbSNP gnomAD v4
16g.3729813dupCA2497028996CREBBPc.5238dup (p.Leu1747AlafsTer5)
c.5124dup (p.Leu1709AlafsTer5)
c.5193dup (p.Leu1732AlafsTer5)
c.4821dup (p.Leu1608AlafsTer5)
c.4977dup (p.Leu1660AlafsTer5)
c.5184dup (p.Leu1729AlafsTer5)
c.4485dup (p.Leu1496AlafsTer5)
c.5232dup (p.Leu1745AlafsTer5)
16g.3729813delCA2631398999CREBBPc.5238del (p.Leu1747TrpfsTer24)
c.5124del (p.Leu1709TrpfsTer24)
c.5193del (p.Leu1732TrpfsTer24)
c.4821del (p.Leu1608TrpfsTer24)
c.4977del (p.Leu1660TrpfsTer24)
c.5184del (p.Leu1729TrpfsTer24)
c.4485del (p.Leu1496TrpfsTer24)
c.5232del (p.Leu1745TrpfsTer24)
gnomAD v4
16g.3729810C>ACA357158CREBBPc.5237G>T (p.Gly1746Val)
c.5123G>T (p.Gly1708Val)
c.5192G>T (p.Gly1731Val)
c.4820G>T (p.Gly1607Val)
c.4976G>T (p.Gly1659Val)
c.5183G>T (p.Gly1728Val)
c.4484G>T (p.Gly1495Val)
c.5231G>T (p.Gly1744Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729810C=CA2202916545CREBBPc.5237G= (p.Gly1746=)
c.5123G= (p.Gly1708=)
c.5192G= (p.Gly1731=)
c.4820G= (p.Gly1607=)
c.4976G= (p.Gly1659=)
c.5183G= (p.Gly1728=)
c.4484G= (p.Gly1495=)
c.5231G= (p.Gly1744=)
16g.3729810C>GCA394557549CREBBPc.5237G>C (p.Gly1746Ala)
c.5123G>C (p.Gly1708Ala)
c.5192G>C (p.Gly1731Ala)
c.4820G>C (p.Gly1607Ala)
c.4976G>C (p.Gly1659Ala)
c.5183G>C (p.Gly1728Ala)
c.4484G>C (p.Gly1495Ala)
c.5231G>C (p.Gly1744Ala)
dbSNP
16g.3729810C>TCA394557546CREBBPc.5237G>A (p.Gly1746Glu)
c.5123G>A (p.Gly1708Glu)
c.5192G>A (p.Gly1731Glu)
c.4820G>A (p.Gly1607Glu)
c.4976G>A (p.Gly1659Glu)
c.5183G>A (p.Gly1728Glu)
c.4484G>A (p.Gly1495Glu)
c.5231G>A (p.Gly1744Glu)
dbSNP
16g.3729811C>ACA394557551CREBBPc.5236G>T (p.Gly1746Trp)
c.5122G>T (p.Gly1708Trp)
c.5191G>T (p.Gly1731Trp)
c.4819G>T (p.Gly1607Trp)
c.4975G>T (p.Gly1659Trp)
c.5182G>T (p.Gly1728Trp)
c.4483G>T (p.Gly1495Trp)
c.5230G>T (p.Gly1744Trp)
gnomAD v4
16g.3729811C=CA2202916546CREBBPc.5236G= (p.Gly1746=)
c.5122G= (p.Gly1708=)
c.5191G= (p.Gly1731=)
c.4819G= (p.Gly1607=)
c.4975G= (p.Gly1659=)
c.5182G= (p.Gly1728=)
c.4483G= (p.Gly1495=)
c.5230G= (p.Gly1744=)
16g.3729811C>GCA394557553CREBBPc.5236G>C (p.Gly1746Arg)
c.5122G>C (p.Gly1708Arg)
c.5191G>C (p.Gly1731Arg)
c.4819G>C (p.Gly1607Arg)
c.4975G>C (p.Gly1659Arg)
c.5182G>C (p.Gly1728Arg)
c.4483G>C (p.Gly1495Arg)
c.5230G>C (p.Gly1744Arg)
16g.3729811C>TCA394557555CREBBPc.5236G>A (p.Gly1746Arg)
c.5122G>A (p.Gly1708Arg)
c.5191G>A (p.Gly1731Arg)
c.4819G>A (p.Gly1607Arg)
c.4975G>A (p.Gly1659Arg)
c.5182G>A (p.Gly1728Arg)
c.4483G>A (p.Gly1495Arg)
c.5230G>A (p.Gly1744Arg)
dbSNP
16g.3729812C>ACA394557558CREBBPc.5235G>T (p.Trp1745Cys)
c.5121G>T (p.Trp1707Cys)
c.5190G>T (p.Trp1730Cys)
c.4818G>T (p.Trp1606Cys)
c.4974G>T (p.Trp1658Cys)
c.5181G>T (p.Trp1727Cys)
c.4482G>T (p.Trp1494Cys)
c.5229G>T (p.Trp1743Cys)
dbSNP
16g.3729812C>GCA394557559CREBBPc.5235G>C (p.Trp1745Cys)
c.5121G>C (p.Trp1707Cys)
c.5190G>C (p.Trp1730Cys)
c.4818G>C (p.Trp1606Cys)
c.4974G>C (p.Trp1658Cys)
c.5181G>C (p.Trp1727Cys)
c.4482G>C (p.Trp1494Cys)
c.5229G>C (p.Trp1743Cys)
dbSNP
16g.3729812C>TCA394557561CREBBPc.5235G>A (p.Trp1745Ter)
c.5121G>A (p.Trp1707Ter)
c.5190G>A (p.Trp1730Ter)
c.4818G>A (p.Trp1606Ter)
c.4974G>A (p.Trp1658Ter)
c.5181G>A (p.Trp1727Ter)
c.4482G>A (p.Trp1494Ter)
c.5229G>A (p.Trp1743Ter)
dbSNP
16g.3729813C>ACA394557563CREBBPc.5234G>T (p.Trp1745Leu)
c.5120G>T (p.Trp1707Leu)
c.5189G>T (p.Trp1730Leu)
c.4817G>T (p.Trp1606Leu)
c.4973G>T (p.Trp1658Leu)
c.5180G>T (p.Trp1727Leu)
c.4481G>T (p.Trp1494Leu)
c.5228G>T (p.Trp1743Leu)
16g.3729813C>GCA394557564CREBBPc.5234G>C (p.Trp1745Ser)
c.5120G>C (p.Trp1707Ser)
c.5189G>C (p.Trp1730Ser)
c.4817G>C (p.Trp1606Ser)
c.4973G>C (p.Trp1658Ser)
c.5180G>C (p.Trp1727Ser)
c.4481G>C (p.Trp1494Ser)
c.5228G>C (p.Trp1743Ser)
ClinVar
16g.3729813C>TCA394557566CREBBPc.5234G>A (p.Trp1745Ter)
c.5120G>A (p.Trp1707Ter)
c.5189G>A (p.Trp1730Ter)
c.4817G>A (p.Trp1606Ter)
c.4973G>A (p.Trp1658Ter)
c.5180G>A (p.Trp1727Ter)
c.4481G>A (p.Trp1494Ter)
c.5228G>A (p.Trp1743Ter)
COSMIC
16g.3729814A>CCA394557568CREBBPc.5233T>G (p.Trp1745Gly)
c.5119T>G (p.Trp1707Gly)
c.5188T>G (p.Trp1730Gly)
c.4816T>G (p.Trp1606Gly)
c.4972T>G (p.Trp1658Gly)
c.5179T>G (p.Trp1727Gly)
c.4480T>G (p.Trp1494Gly)
c.5227T>G (p.Trp1743Gly)
dbSNP
16g.3729814A>GCA394557569CREBBPc.5233T>C (p.Trp1745Arg)
c.5119T>C (p.Trp1707Arg)
c.5188T>C (p.Trp1730Arg)
c.4816T>C (p.Trp1606Arg)
c.4972T>C (p.Trp1658Arg)
c.5179T>C (p.Trp1727Arg)
c.4480T>C (p.Trp1494Arg)
c.5227T>C (p.Trp1743Arg)
16g.3729814A>TCA394557571CREBBPc.5233T>A (p.Trp1745Arg)
c.5119T>A (p.Trp1707Arg)
c.5188T>A (p.Trp1730Arg)
c.4816T>A (p.Trp1606Arg)
c.4972T>A (p.Trp1658Arg)
c.5179T>A (p.Trp1727Arg)
c.4480T>A (p.Trp1494Arg)
c.5227T>A (p.Trp1743Arg)
dbSNP
16g.3729815C>ACA394557575CREBBPc.5232G>T (p.Lys1744Asn)
c.5118G>T (p.Lys1706Asn)
c.5187G>T (p.Lys1729Asn)
c.4815G>T (p.Lys1605Asn)
c.4971G>T (p.Lys1657Asn)
c.5178G>T (p.Lys1726Asn)
c.4479G>T (p.Lys1493Asn)
c.5226G>T (p.Lys1742Asn)
dbSNP
16g.3729815C=CA2202916547CREBBPc.5232G= (p.Lys1744=)
c.5118G= (p.Lys1706=)
c.5187G= (p.Lys1729=)
c.4815G= (p.Lys1605=)
c.4971G= (p.Lys1657=)
c.5178G= (p.Lys1726=)
c.4479G= (p.Lys1493=)
c.5226G= (p.Lys1742=)
16g.3729815C>GCA394557573CREBBPc.5232G>C (p.Lys1744Asn)
c.5118G>C (p.Lys1706Asn)
c.5187G>C (p.Lys1729Asn)
c.4815G>C (p.Lys1605Asn)
c.4971G>C (p.Lys1657Asn)
c.5178G>C (p.Lys1726Asn)
c.4479G>C (p.Lys1493Asn)
c.5226G>C (p.Lys1742Asn)
dbSNP
16g.3729815C>TCA493394303CREBBPc.5232G>A (p.Lys1744=)
c.5118G>A (p.Lys1706=)
c.5187G>A (p.Lys1729=)
c.4815G>A (p.Lys1605=)
c.4971G>A (p.Lys1657=)
c.5178G>A (p.Lys1726=)
c.4479G>A (p.Lys1493=)
c.5226G>A (p.Lys1742=)
ClinVar dbSNP gnomAD v4
16g.3729816T>ACA394557577CREBBPc.5231A>T (p.Lys1744Met)
c.5117A>T (p.Lys1706Met)
c.5186A>T (p.Lys1729Met)
c.4814A>T (p.Lys1605Met)
c.4970A>T (p.Lys1657Met)
c.5177A>T (p.Lys1726Met)
c.4478A>T (p.Lys1493Met)
c.5225A>T (p.Lys1742Met)
dbSNP
16g.3729816T>CCA394557579CREBBPc.5231A>G (p.Lys1744Arg)
c.5117A>G (p.Lys1706Arg)
c.5186A>G (p.Lys1729Arg)
c.4814A>G (p.Lys1605Arg)
c.4970A>G (p.Lys1657Arg)
c.5177A>G (p.Lys1726Arg)
c.4478A>G (p.Lys1493Arg)
c.5225A>G (p.Lys1742Arg)
dbSNP
16g.3729816T>GCA394557580CREBBPc.5231A>C (p.Lys1744Thr)
c.5117A>C (p.Lys1706Thr)
c.5186A>C (p.Lys1729Thr)
c.4814A>C (p.Lys1605Thr)
c.4970A>C (p.Lys1657Thr)
c.5177A>C (p.Lys1726Thr)
c.4478A>C (p.Lys1493Thr)
c.5225A>C (p.Lys1742Thr)
16g.3729817T>ACA394557583CREBBPc.5230A>T (p.Lys1744Ter)
c.5116A>T (p.Lys1706Ter)
c.5185A>T (p.Lys1729Ter)
c.4813A>T (p.Lys1605Ter)
c.4969A>T (p.Lys1657Ter)
c.5176A>T (p.Lys1726Ter)
c.4477A>T (p.Lys1493Ter)
c.5224A>T (p.Lys1742Ter)
16g.3729817T>CCA394557584CREBBPc.5230A>G (p.Lys1744Glu)
c.5116A>G (p.Lys1706Glu)
c.5185A>G (p.Lys1729Glu)
c.4813A>G (p.Lys1605Glu)
c.4969A>G (p.Lys1657Glu)
c.5176A>G (p.Lys1726Glu)
c.4477A>G (p.Lys1493Glu)
c.5224A>G (p.Lys1742Glu)
16g.3729817T>GCA394557585CREBBPc.5230A>C (p.Lys1744Gln)
c.5116A>C (p.Lys1706Gln)
c.5185A>C (p.Lys1729Gln)
c.4813A>C (p.Lys1605Gln)
c.4969A>C (p.Lys1657Gln)
c.5176A>C (p.Lys1726Gln)
c.4477A>C (p.Lys1493Gln)
c.5224A>C (p.Lys1742Gln)
16g.3729818C>ACA493394305CREBBPc.5229G>T (p.Val1743=)
c.5115G>T (p.Val1705=)
c.5184G>T (p.Val1728=)
c.4812G>T (p.Val1604=)
c.4968G>T (p.Val1656=)
c.5175G>T (p.Val1725=)
c.4476G>T (p.Val1492=)
c.5223G>T (p.Val1741=)
16g.3729818C>GCA493394306CREBBPc.5229G>C (p.Val1743=)
c.5115G>C (p.Val1705=)
c.5184G>C (p.Val1728=)
c.4812G>C (p.Val1604=)
c.4968G>C (p.Val1656=)
c.5175G>C (p.Val1725=)
c.4476G>C (p.Val1492=)
c.5223G>C (p.Val1741=)
dbSNP
16g.3729818C>TCA493394307CREBBPc.5229G>A (p.Val1743=)
c.5115G>A (p.Val1705=)
c.5184G>A (p.Val1728=)
c.4812G>A (p.Val1604=)
c.4968G>A (p.Val1656=)
c.5175G>A (p.Val1725=)
c.4476G>A (p.Val1492=)
c.5223G>A (p.Val1741=)
dbSNP
16g.3729819A>CCA394557587CREBBPc.5228T>G (p.Val1743Gly)
c.5114T>G (p.Val1705Gly)
c.5183T>G (p.Val1728Gly)
c.4811T>G (p.Val1604Gly)
c.4967T>G (p.Val1656Gly)
c.5174T>G (p.Val1725Gly)
c.4475T>G (p.Val1492Gly)
c.5222T>G (p.Val1741Gly)
16g.3729819A>GCA394557588CREBBPc.5228T>C (p.Val1743Ala)
c.5114T>C (p.Val1705Ala)
c.5183T>C (p.Val1728Ala)
c.4811T>C (p.Val1604Ala)
c.4967T>C (p.Val1656Ala)
c.5174T>C (p.Val1725Ala)
c.4475T>C (p.Val1492Ala)
c.5222T>C (p.Val1741Ala)
16g.3729819A>TCA394557590CREBBPc.5228T>A (p.Val1743Glu)
c.5114T>A (p.Val1705Glu)
c.5183T>A (p.Val1728Glu)
c.4811T>A (p.Val1604Glu)
c.4967T>A (p.Val1656Glu)
c.5174T>A (p.Val1725Glu)
c.4475T>A (p.Val1492Glu)
c.5222T>A (p.Val1741Glu)
16g.3729820C>ACA394557592CREBBPc.5227G>T (p.Val1743Leu)
c.5113G>T (p.Val1705Leu)
c.5182G>T (p.Val1728Leu)
c.4810G>T (p.Val1604Leu)
c.4966G>T (p.Val1656Leu)
c.5173G>T (p.Val1725Leu)
c.4474G>T (p.Val1492Leu)
c.5221G>T (p.Val1741Leu)
16g.3729820C>GCA394557594CREBBPc.5227G>C (p.Val1743Leu)
c.5113G>C (p.Val1705Leu)
c.5182G>C (p.Val1728Leu)
c.4810G>C (p.Val1604Leu)
c.4966G>C (p.Val1656Leu)
c.5173G>C (p.Val1725Leu)
c.4474G>C (p.Val1492Leu)
c.5221G>C (p.Val1741Leu)
16g.3729820C>TCA394557596CREBBPc.5227G>A (p.Val1743Met)
c.5113G>A (p.Val1705Met)
c.5182G>A (p.Val1728Met)
c.4810G>A (p.Val1604Met)
c.4966G>A (p.Val1656Met)
c.5173G>A (p.Val1725Met)
c.4474G>A (p.Val1492Met)
c.5221G>A (p.Val1741Met)
gnomAD v4
16g.3729821C>ACA394557600CREBBPc.5226G>T (p.Met1742Ile)
c.5112G>T (p.Met1704Ile)
c.5181G>T (p.Met1727Ile)
c.4809G>T (p.Met1603Ile)
c.4965G>T (p.Met1655Ile)
c.5172G>T (p.Met1724Ile)
c.4473G>T (p.Met1491Ile)
c.5220G>T (p.Met1740Ile)
dbSNP
16g.3729821C>GCA394557602CREBBPc.5226G>C (p.Met1742Ile)
c.5112G>C (p.Met1704Ile)
c.5181G>C (p.Met1727Ile)
c.4809G>C (p.Met1603Ile)
c.4965G>C (p.Met1655Ile)
c.5172G>C (p.Met1724Ile)
c.4473G>C (p.Met1491Ile)
c.5220G>C (p.Met1740Ile)
dbSNP
16g.3729821C>TCA394557598CREBBPc.5226G>A (p.Met1742Ile)
c.5112G>A (p.Met1704Ile)
c.5181G>A (p.Met1727Ile)
c.4809G>A (p.Met1603Ile)
c.4965G>A (p.Met1655Ile)
c.5172G>A (p.Met1724Ile)
c.4473G>A (p.Met1491Ile)
c.5220G>A (p.Met1740Ile)
dbSNP
16g.3729822A>CCA394557604CREBBPc.5225T>G (p.Met1742Arg)
c.5111T>G (p.Met1704Arg)
c.5180T>G (p.Met1727Arg)
c.4808T>G (p.Met1603Arg)
c.4964T>G (p.Met1655Arg)
c.5171T>G (p.Met1724Arg)
c.4472T>G (p.Met1491Arg)
c.5219T>G (p.Met1740Arg)
16g.3729822A>GCA394557606CREBBPc.5225T>C (p.Met1742Thr)
c.5111T>C (p.Met1704Thr)
c.5180T>C (p.Met1727Thr)
c.4808T>C (p.Met1603Thr)
c.4964T>C (p.Met1655Thr)
c.5171T>C (p.Met1724Thr)
c.4472T>C (p.Met1491Thr)
c.5219T>C (p.Met1740Thr)
16g.3729822A>TCA394557608CREBBPc.5225T>A (p.Met1742Lys)
c.5111T>A (p.Met1704Lys)
c.5180T>A (p.Met1727Lys)
c.4808T>A (p.Met1603Lys)
c.4964T>A (p.Met1655Lys)
c.5171T>A (p.Met1724Lys)
c.4472T>A (p.Met1491Lys)
c.5219T>A (p.Met1740Lys)
dbSNP
16g.3729823T>ACA394557610CREBBPc.5224A>T (p.Met1742Leu)
c.5110A>T (p.Met1704Leu)
c.5179A>T (p.Met1727Leu)
c.4807A>T (p.Met1603Leu)
c.4963A>T (p.Met1655Leu)
c.5170A>T (p.Met1724Leu)
c.4471A>T (p.Met1491Leu)
c.5218A>T (p.Met1740Leu)
dbSNP
16g.3729823T>CCA394557611CREBBPc.5224A>G (p.Met1742Val)
c.5110A>G (p.Met1704Val)
c.5179A>G (p.Met1727Val)
c.4807A>G (p.Met1603Val)
c.4963A>G (p.Met1655Val)
c.5170A>G (p.Met1724Val)
c.4471A>G (p.Met1491Val)
c.5218A>G (p.Met1740Val)
ClinVar
16g.3729823T>GCA394557612CREBBPc.5224A>C (p.Met1742Leu)
c.5110A>C (p.Met1704Leu)
c.5179A>C (p.Met1727Leu)
c.4807A>C (p.Met1603Leu)
c.4963A>C (p.Met1655Leu)
c.5170A>C (p.Met1724Leu)
c.4471A>C (p.Met1491Leu)
c.5218A>C (p.Met1740Leu)
16g.3729824C>ACA394557614CREBBPc.5223G>T (p.Lys1741Asn)
c.5109G>T (p.Lys1703Asn)
c.5178G>T (p.Lys1726Asn)
c.4806G>T (p.Lys1602Asn)
c.4962G>T (p.Lys1654Asn)
c.5169G>T (p.Lys1723Asn)
c.4470G>T (p.Lys1490Asn)
c.5217G>T (p.Lys1739Asn)
16g.3729824C=CA2202916548CREBBPc.5223G= (p.Lys1741=)
c.5109G= (p.Lys1703=)
c.5178G= (p.Lys1726=)
c.4806G= (p.Lys1602=)
c.4962G= (p.Lys1654=)
c.5169G= (p.Lys1723=)
c.4470G= (p.Lys1490=)
c.5217G= (p.Lys1739=)
16g.3729824C>GCA7869305CREBBPc.5223G>C (p.Lys1741Asn)
c.5109G>C (p.Lys1703Asn)
c.5178G>C (p.Lys1726Asn)
c.4806G>C (p.Lys1602Asn)
c.4962G>C (p.Lys1654Asn)
c.5169G>C (p.Lys1723Asn)
c.4470G>C (p.Lys1490Asn)
c.5217G>C (p.Lys1739Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729824C>TCA493394312CREBBPc.5223G>A (p.Lys1741=)
c.5109G>A (p.Lys1703=)
c.5178G>A (p.Lys1726=)
c.4806G>A (p.Lys1602=)
c.4962G>A (p.Lys1654=)
c.5169G>A (p.Lys1723=)
c.4470G>A (p.Lys1490=)
c.5217G>A (p.Lys1739=)
16g.3729825T>ACA394557617CREBBPc.5222A>T (p.Lys1741Met)
c.5108A>T (p.Lys1703Met)
c.5177A>T (p.Lys1726Met)
c.4805A>T (p.Lys1602Met)
c.4961A>T (p.Lys1654Met)
c.5168A>T (p.Lys1723Met)
c.4469A>T (p.Lys1490Met)
c.5216A>T (p.Lys1739Met)
dbSNP
16g.3729825T>CCA394557619CREBBPc.5222A>G (p.Lys1741Arg)
c.5108A>G (p.Lys1703Arg)
c.5177A>G (p.Lys1726Arg)
c.4805A>G (p.Lys1602Arg)
c.4961A>G (p.Lys1654Arg)
c.5168A>G (p.Lys1723Arg)
c.4469A>G (p.Lys1490Arg)
c.5216A>G (p.Lys1739Arg)
dbSNP
16g.3729825T>GCA394557621CREBBPc.5222A>C (p.Lys1741Thr)
c.5108A>C (p.Lys1703Thr)
c.5177A>C (p.Lys1726Thr)
c.4805A>C (p.Lys1602Thr)
c.4961A>C (p.Lys1654Thr)
c.5168A>C (p.Lys1723Thr)
c.4469A>C (p.Lys1490Thr)
c.5216A>C (p.Lys1739Thr)
16g.3729826T>ACA394557623CREBBPc.5221A>T (p.Lys1741Ter)
c.5107A>T (p.Lys1703Ter)
c.5176A>T (p.Lys1726Ter)
c.4804A>T (p.Lys1602Ter)
c.4960A>T (p.Lys1654Ter)
c.5167A>T (p.Lys1723Ter)
c.4468A>T (p.Lys1490Ter)
c.5215A>T (p.Lys1739Ter)
dbSNP
16g.3729826T>CCA276972337CREBBPc.5221A>G (p.Lys1741Glu)
c.5107A>G (p.Lys1703Glu)
c.5176A>G (p.Lys1726Glu)
c.4804A>G (p.Lys1602Glu)
c.4960A>G (p.Lys1654Glu)
c.5167A>G (p.Lys1723Glu)
c.4468A>G (p.Lys1490Glu)
c.5215A>G (p.Lys1739Glu)
dbSNP
16g.3729826T>GCA394557625CREBBPc.5221A>C (p.Lys1741Gln)
c.5107A>C (p.Lys1703Gln)
c.5176A>C (p.Lys1726Gln)
c.4804A>C (p.Lys1602Gln)
c.4960A>C (p.Lys1654Gln)
c.5167A>C (p.Lys1723Gln)
c.4468A>C (p.Lys1490Gln)
c.5215A>C (p.Lys1739Gln)
16g.3729826T=CA2202916549CREBBPc.5221A= (p.Lys1741=)
c.5107A= (p.Lys1703=)
c.5176A= (p.Lys1726=)
c.4804A= (p.Lys1602=)
c.4960A= (p.Lys1654=)
c.5167A= (p.Lys1723=)
c.4468A= (p.Lys1490=)
c.5215A= (p.Lys1739=)
16g.3729827A>CCA394557629CREBBPc.5220T>G (p.His1740Gln)
c.5106T>G (p.His1702Gln)
c.5175T>G (p.His1725Gln)
c.4803T>G (p.His1601Gln)
c.4959T>G (p.His1653Gln)
c.5166T>G (p.His1722Gln)
c.4467T>G (p.His1489Gln)
c.5214T>G (p.His1738Gln)
dbSNP
16g.3729827A>GCA493394315CREBBPc.5220T>C (p.His1740=)
c.5106T>C (p.His1702=)
c.5175T>C (p.His1725=)
c.4803T>C (p.His1601=)
c.4959T>C (p.His1653=)
c.5166T>C (p.His1722=)
c.4467T>C (p.His1489=)
c.5214T>C (p.His1738=)
16g.3729827A>TCA394557627CREBBPc.5220T>A (p.His1740Gln)
c.5106T>A (p.His1702Gln)
c.5175T>A (p.His1725Gln)
c.4803T>A (p.His1601Gln)
c.4959T>A (p.His1653Gln)
c.5166T>A (p.His1722Gln)
c.4467T>A (p.His1489Gln)
c.5214T>A (p.His1738Gln)
dbSNP
16g.3729828T>ACA394557631CREBBPc.5219A>T (p.His1740Leu)
c.5105A>T (p.His1702Leu)
c.5174A>T (p.His1725Leu)
c.4802A>T (p.His1601Leu)
c.4958A>T (p.His1653Leu)
c.5165A>T (p.His1722Leu)
c.4466A>T (p.His1489Leu)
c.5213A>T (p.His1738Leu)
16g.3729828T>CCA394557633CREBBPc.5219A>G (p.His1740Arg)
c.5105A>G (p.His1702Arg)
c.5174A>G (p.His1725Arg)
c.4802A>G (p.His1601Arg)
c.4958A>G (p.His1653Arg)
c.5165A>G (p.His1722Arg)
c.4466A>G (p.His1489Arg)
c.5213A>G (p.His1738Arg)
ClinVar dbSNP COSMIC
16g.3729828T>GCA394557635CREBBPc.5219A>C (p.His1740Pro)
c.5105A>C (p.His1702Pro)
c.5174A>C (p.His1725Pro)
c.4802A>C (p.His1601Pro)
c.4958A>C (p.His1653Pro)
c.5165A>C (p.His1722Pro)
c.4466A>C (p.His1489Pro)
c.5213A>C (p.His1738Pro)
16g.3729828T=CA2202916550CREBBPc.5219A= (p.His1740=)
c.5105A= (p.His1702=)
c.5174A= (p.His1725=)
c.4802A= (p.His1601=)
c.4958A= (p.His1653=)
c.5165A= (p.His1722=)
c.4466A= (p.His1489=)
c.5213A= (p.His1738=)

Number of alleles fetched