Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.3729649G>ACA394556568CREBBPc.5398C>T (p.Arg1800Trp)
c.5284C>T (p.Arg1762Trp)
c.5353C>T (p.Arg1785Trp)
c.4981C>T (p.Arg1661Trp)
c.5137C>T (p.Arg1713Trp)
c.5344C>T (p.Arg1782Trp)
c.4645C>T (p.Arg1549Trp)
c.5392C>T (p.Arg1798Trp)
 ClinVar dbSNP
16g.3729649G>CCA394556570CREBBPc.5398C>G (p.Arg1800Gly)
c.5284C>G (p.Arg1762Gly)
c.5353C>G (p.Arg1785Gly)
c.4981C>G (p.Arg1661Gly)
c.5137C>G (p.Arg1713Gly)
c.5344C>G (p.Arg1782Gly)
c.4645C>G (p.Arg1549Gly)
c.5392C>G (p.Arg1798Gly)
 dbSNP
16g.3729649G>TCA493394394CREBBPc.5398C>A (p.Arg1800=)
c.5284C>A (p.Arg1762=)
c.5353C>A (p.Arg1785=)
c.4981C>A (p.Arg1661=)
c.5137C>A (p.Arg1713=)
c.5344C>A (p.Arg1782=)
c.4645C>A (p.Arg1549=)
c.5392C>A (p.Arg1798=)
 dbSNP
16g.3729650C>ACA394556571CREBBPc.5397G>T (p.Lys1799Asn)
c.5283G>T (p.Lys1761Asn)
c.5352G>T (p.Lys1784Asn)
c.4980G>T (p.Lys1660Asn)
c.5136G>T (p.Lys1712Asn)
c.5343G>T (p.Lys1781Asn)
c.4644G>T (p.Lys1548Asn)
c.5391G>T (p.Lys1797Asn)
 dbSNP
16g.3729650C>GCA394556573CREBBPc.5397G>C (p.Lys1799Asn)
c.5283G>C (p.Lys1761Asn)
c.5352G>C (p.Lys1784Asn)
c.4980G>C (p.Lys1660Asn)
c.5136G>C (p.Lys1712Asn)
c.5343G>C (p.Lys1781Asn)
c.4644G>C (p.Lys1548Asn)
c.5391G>C (p.Lys1797Asn)
16g.3729650C>TCA493394395CREBBPc.5397G>A (p.Lys1799=)
c.5283G>A (p.Lys1761=)
c.5352G>A (p.Lys1784=)
c.4980G>A (p.Lys1660=)
c.5136G>A (p.Lys1712=)
c.5343G>A (p.Lys1781=)
c.4644G>A (p.Lys1548=)
c.5391G>A (p.Lys1797=)
 dbSNP
16g.3729651T>ACA394556578CREBBPc.5396A>T (p.Lys1799Met)
c.5282A>T (p.Lys1761Met)
c.5351A>T (p.Lys1784Met)
c.4979A>T (p.Lys1660Met)
c.5135A>T (p.Lys1712Met)
c.5342A>T (p.Lys1781Met)
c.4643A>T (p.Lys1548Met)
c.5390A>T (p.Lys1797Met)
 dbSNP
16g.3729651T>CCA394556575CREBBPc.5396A>G (p.Lys1799Arg)
c.5282A>G (p.Lys1761Arg)
c.5351A>G (p.Lys1784Arg)
c.4979A>G (p.Lys1660Arg)
c.5135A>G (p.Lys1712Arg)
c.5342A>G (p.Lys1781Arg)
c.4643A>G (p.Lys1548Arg)
c.5390A>G (p.Lys1797Arg)
 dbSNP
16g.3729651T>GCA394556576CREBBPc.5396A>C (p.Lys1799Thr)
c.5282A>C (p.Lys1761Thr)
c.5351A>C (p.Lys1784Thr)
c.4979A>C (p.Lys1660Thr)
c.5135A>C (p.Lys1712Thr)
c.5342A>C (p.Lys1781Thr)
c.4643A>C (p.Lys1548Thr)
c.5390A>C (p.Lys1797Thr)
16g.3729652T>ACA394556581CREBBPc.5395A>T (p.Lys1799Ter)
c.5281A>T (p.Lys1761Ter)
c.5350A>T (p.Lys1784Ter)
c.4978A>T (p.Lys1660Ter)
c.5134A>T (p.Lys1712Ter)
c.5341A>T (p.Lys1781Ter)
c.4642A>T (p.Lys1548Ter)
c.5389A>T (p.Lys1797Ter)
 dbSNP
16g.3729652T>CCA394556583CREBBPc.5395A>G (p.Lys1799Glu)
c.5281A>G (p.Lys1761Glu)
c.5350A>G (p.Lys1784Glu)
c.4978A>G (p.Lys1660Glu)
c.5134A>G (p.Lys1712Glu)
c.5341A>G (p.Lys1781Glu)
c.4642A>G (p.Lys1548Glu)
c.5389A>G (p.Lys1797Glu)
 dbSNP
16g.3729652T>GCA394556584CREBBPc.5395A>C (p.Lys1799Gln)
c.5281A>C (p.Lys1761Gln)
c.5350A>C (p.Lys1784Gln)
c.4978A>C (p.Lys1660Gln)
c.5134A>C (p.Lys1712Gln)
c.5341A>C (p.Lys1781Gln)
c.4642A>C (p.Lys1548Gln)
c.5389A>C (p.Lys1797Gln)
16g.3729653C>ACA394556586CREBBPc.5394G>T (p.Met1798Ile)
c.5280G>T (p.Met1760Ile)
c.5349G>T (p.Met1783Ile)
c.4977G>T (p.Met1659Ile)
c.5133G>T (p.Met1711Ile)
c.5340G>T (p.Met1780Ile)
c.4641G>T (p.Met1547Ile)
c.5388G>T (p.Met1796Ile)
16g.3729653C>GCA394556588CREBBPc.5394G>C (p.Met1798Ile)
c.5280G>C (p.Met1760Ile)
c.5349G>C (p.Met1783Ile)
c.4977G>C (p.Met1659Ile)
c.5133G>C (p.Met1711Ile)
c.5340G>C (p.Met1780Ile)
c.4641G>C (p.Met1547Ile)
c.5388G>C (p.Met1796Ile)
 dbSNP
16g.3729653C>TCA394556589CREBBPc.5394G>A (p.Met1798Ile)
c.5280G>A (p.Met1760Ile)
c.5349G>A (p.Met1783Ile)
c.4977G>A (p.Met1659Ile)
c.5133G>A (p.Met1711Ile)
c.5340G>A (p.Met1780Ile)
c.4641G>A (p.Met1547Ile)
c.5388G>A (p.Met1796Ile)
 dbSNP
16g.3729654A>CCA394556591CREBBPc.5393T>G (p.Met1798Arg)
c.5279T>G (p.Met1760Arg)
c.5348T>G (p.Met1783Arg)
c.4976T>G (p.Met1659Arg)
c.5132T>G (p.Met1711Arg)
c.5339T>G (p.Met1780Arg)
c.4640T>G (p.Met1547Arg)
c.5387T>G (p.Met1796Arg)
 dbSNP
16g.3729654A>GCA394556593CREBBPc.5393T>C (p.Met1798Thr)
c.5279T>C (p.Met1760Thr)
c.5348T>C (p.Met1783Thr)
c.4976T>C (p.Met1659Thr)
c.5132T>C (p.Met1711Thr)
c.5339T>C (p.Met1780Thr)
c.4640T>C (p.Met1547Thr)
c.5387T>C (p.Met1796Thr)
16g.3729654A>TCA394556595CREBBPc.5393T>A (p.Met1798Lys)
c.5279T>A (p.Met1760Lys)
c.5348T>A (p.Met1783Lys)
c.4976T>A (p.Met1659Lys)
c.5132T>A (p.Met1711Lys)
c.5339T>A (p.Met1780Lys)
c.4640T>A (p.Met1547Lys)
c.5387T>A (p.Met1796Lys)
 dbSNP
16g.3729655T>ACA394556598CREBBPc.5392A>T (p.Met1798Leu)
c.5278A>T (p.Met1760Leu)
c.5347A>T (p.Met1783Leu)
c.4975A>T (p.Met1659Leu)
c.5131A>T (p.Met1711Leu)
c.5338A>T (p.Met1780Leu)
c.4639A>T (p.Met1547Leu)
c.5386A>T (p.Met1796Leu)
 dbSNP
16g.3729655T>CCA394556600CREBBPc.5392A>G (p.Met1798Val)
c.5278A>G (p.Met1760Val)
c.5347A>G (p.Met1783Val)
c.4975A>G (p.Met1659Val)
c.5131A>G (p.Met1711Val)
c.5338A>G (p.Met1780Val)
c.4639A>G (p.Met1547Val)
c.5386A>G (p.Met1796Val)
16g.3729655T>GCA394556602CREBBPc.5392A>C (p.Met1798Leu)
c.5278A>C (p.Met1760Leu)
c.5347A>C (p.Met1783Leu)
c.4975A>C (p.Met1659Leu)
c.5131A>C (p.Met1711Leu)
c.5338A>C (p.Met1780Leu)
c.4639A>C (p.Met1547Leu)
c.5386A>C (p.Met1796Leu)
16g.3729656C>ACA394556606CREBBPc.5391G>T (p.Lys1797Asn)
c.5277G>T (p.Lys1759Asn)
c.5346G>T (p.Lys1782Asn)
c.4974G>T (p.Lys1658Asn)
c.5130G>T (p.Lys1710Asn)
c.5337G>T (p.Lys1779Asn)
c.4638G>T (p.Lys1546Asn)
c.5385G>T (p.Lys1795Asn)
 dbSNP
16g.3729656C=CA2202916478CREBBPc.5391G= (p.Lys1797=)
c.5277G= (p.Lys1759=)
c.5346G= (p.Lys1782=)
c.4974G= (p.Lys1658=)
c.5130G= (p.Lys1710=)
c.5337G= (p.Lys1779=)
c.4638G= (p.Lys1546=)
c.5385G= (p.Lys1795=)
16g.3729656C>GCA394556604CREBBPc.5391G>C (p.Lys1797Asn)
c.5277G>C (p.Lys1759Asn)
c.5346G>C (p.Lys1782Asn)
c.4974G>C (p.Lys1658Asn)
c.5130G>C (p.Lys1710Asn)
c.5337G>C (p.Lys1779Asn)
c.4638G>C (p.Lys1546Asn)
c.5385G>C (p.Lys1795Asn)
 dbSNP
16g.3729656C>TCA493394396CREBBPc.5391G>A (p.Lys1797=)
c.5277G>A (p.Lys1759=)
c.5346G>A (p.Lys1782=)
c.4974G>A (p.Lys1658=)
c.5130G>A (p.Lys1710=)
c.5337G>A (p.Lys1779=)
c.4638G>A (p.Lys1546=)
c.5385G>A (p.Lys1795=)
 dbSNP gnomAD v4
16g.3729657T>ACA394556608CREBBPc.5390A>T (p.Lys1797Met)
c.5276A>T (p.Lys1759Met)
c.5345A>T (p.Lys1782Met)
c.4973A>T (p.Lys1658Met)
c.5129A>T (p.Lys1710Met)
c.5336A>T (p.Lys1779Met)
c.4637A>T (p.Lys1546Met)
c.5384A>T (p.Lys1795Met)
 dbSNP
16g.3729657T>CCA394556610CREBBPc.5390A>G (p.Lys1797Arg)
c.5276A>G (p.Lys1759Arg)
c.5345A>G (p.Lys1782Arg)
c.4973A>G (p.Lys1658Arg)
c.5129A>G (p.Lys1710Arg)
c.5336A>G (p.Lys1779Arg)
c.4637A>G (p.Lys1546Arg)
c.5384A>G (p.Lys1795Arg)
16g.3729657T>GCA394556612CREBBPc.5390A>C (p.Lys1797Thr)
c.5276A>C (p.Lys1759Thr)
c.5345A>C (p.Lys1782Thr)
c.4973A>C (p.Lys1658Thr)
c.5129A>C (p.Lys1710Thr)
c.5336A>C (p.Lys1779Thr)
c.4637A>C (p.Lys1546Thr)
c.5384A>C (p.Lys1795Thr)
16g.3729658T>ACA394556614CREBBPc.5389A>T (p.Lys1797Ter)
c.5275A>T (p.Lys1759Ter)
c.5344A>T (p.Lys1782Ter)
c.4972A>T (p.Lys1658Ter)
c.5128A>T (p.Lys1710Ter)
c.5335A>T (p.Lys1779Ter)
c.4636A>T (p.Lys1546Ter)
c.5383A>T (p.Lys1795Ter)
 dbSNP
16g.3729658T>CCA394556616CREBBPc.5389A>G (p.Lys1797Glu)
c.5275A>G (p.Lys1759Glu)
c.5344A>G (p.Lys1782Glu)
c.4972A>G (p.Lys1658Glu)
c.5128A>G (p.Lys1710Glu)
c.5335A>G (p.Lys1779Glu)
c.4636A>G (p.Lys1546Glu)
c.5383A>G (p.Lys1795Glu)
16g.3729658T>GCA394556618CREBBPc.5389A>C (p.Lys1797Gln)
c.5275A>C (p.Lys1759Gln)
c.5344A>C (p.Lys1782Gln)
c.4972A>C (p.Lys1658Gln)
c.5128A>C (p.Lys1710Gln)
c.5335A>C (p.Lys1779Gln)
c.4636A>C (p.Lys1546Gln)
c.5383A>C (p.Lys1795Gln)
16g.3729659C>ACA394556621CREBBPc.5388G>T (p.Gln1796His)
c.5274G>T (p.Gln1758His)
c.5343G>T (p.Gln1781His)
c.4971G>T (p.Gln1657His)
c.5127G>T (p.Gln1709His)
c.5334G>T (p.Gln1778His)
c.4635G>T (p.Gln1545His)
c.5382G>T (p.Gln1794His)
 dbSNP
16g.3729659C=CA2202916479CREBBPc.5388G= (p.Gln1796=)
c.5274G= (p.Gln1758=)
c.5343G= (p.Gln1781=)
c.4971G= (p.Gln1657=)
c.5127G= (p.Gln1709=)
c.5334G= (p.Gln1778=)
c.4635G= (p.Gln1545=)
c.5382G= (p.Gln1794=)
16g.3729659C>GCA394556622CREBBPc.5388G>C (p.Gln1796His)
c.5274G>C (p.Gln1758His)
c.5343G>C (p.Gln1781His)
c.4971G>C (p.Gln1657His)
c.5127G>C (p.Gln1709His)
c.5334G>C (p.Gln1778His)
c.4635G>C (p.Gln1545His)
c.5382G>C (p.Gln1794His)
 dbSNP
16g.3729659C>TCA493394397CREBBPc.5388G>A (p.Gln1796=)
c.5274G>A (p.Gln1758=)
c.5343G>A (p.Gln1781=)
c.4971G>A (p.Gln1657=)
c.5127G>A (p.Gln1709=)
c.5334G>A (p.Gln1778=)
c.4635G>A (p.Gln1545=)
c.5382G>A (p.Gln1794=)
 dbSNP
16g.3729660T>ACA394556988CREBBPc.5387A>T (p.Gln1796Leu)
c.5273A>T (p.Gln1758Leu)
c.5342A>T (p.Gln1781Leu)
c.4970A>T (p.Gln1657Leu)
c.5126A>T (p.Gln1709Leu)
c.5333A>T (p.Gln1778Leu)
c.4634A>T (p.Gln1545Leu)
c.5381A>T (p.Gln1794Leu)
16g.3729660T>CCA394556991CREBBPc.5387A>G (p.Gln1796Arg)
c.5273A>G (p.Gln1758Arg)
c.5342A>G (p.Gln1781Arg)
c.4970A>G (p.Gln1657Arg)
c.5126A>G (p.Gln1709Arg)
c.5333A>G (p.Gln1778Arg)
c.4634A>G (p.Gln1545Arg)
c.5381A>G (p.Gln1794Arg)
16g.3729660T>GCA394556992CREBBPc.5387A>C (p.Gln1796Pro)
c.5273A>C (p.Gln1758Pro)
c.5342A>C (p.Gln1781Pro)
c.4970A>C (p.Gln1657Pro)
c.5126A>C (p.Gln1709Pro)
c.5333A>C (p.Gln1778Pro)
c.4634A>C (p.Gln1545Pro)
c.5381A>C (p.Gln1794Pro)
16g.3729661G>ACA394556996CREBBPc.5386C>T (p.Gln1796Ter)
c.5272C>T (p.Gln1758Ter)
c.5341C>T (p.Gln1781Ter)
c.4969C>T (p.Gln1657Ter)
c.5125C>T (p.Gln1709Ter)
c.5332C>T (p.Gln1778Ter)
c.4633C>T (p.Gln1545Ter)
c.5380C>T (p.Gln1794Ter)
 dbSNP COSMIC
16g.3729661G>CCA394556998CREBBPc.5386C>G (p.Gln1796Glu)
c.5272C>G (p.Gln1758Glu)
c.5341C>G (p.Gln1781Glu)
c.4969C>G (p.Gln1657Glu)
c.5125C>G (p.Gln1709Glu)
c.5332C>G (p.Gln1778Glu)
c.4633C>G (p.Gln1545Glu)
c.5380C>G (p.Gln1794Glu)
 dbSNP
16g.3729661G>TCA394557000CREBBPc.5386C>A (p.Gln1796Lys)
c.5272C>A (p.Gln1758Lys)
c.5341C>A (p.Gln1781Lys)
c.4969C>A (p.Gln1657Lys)
c.5125C>A (p.Gln1709Lys)
c.5332C>A (p.Gln1778Lys)
c.4633C>A (p.Gln1545Lys)
c.5380C>A (p.Gln1794Lys)
16g.3729662G>ACA493394130CREBBPc.5385C>T (p.Cys1795=)
c.5271C>T (p.Cys1757=)
c.5340C>T (p.Cys1780=)
c.4968C>T (p.Cys1656=)
c.5124C>T (p.Cys1708=)
c.5331C>T (p.Cys1777=)
c.4632C>T (p.Cys1544=)
c.5379C>T (p.Cys1793=)
 dbSNP
16g.3729662G>CCA394557002CREBBPc.5385C>G (p.Cys1795Trp)
c.5271C>G (p.Cys1757Trp)
c.5340C>G (p.Cys1780Trp)
c.4968C>G (p.Cys1656Trp)
c.5124C>G (p.Cys1708Trp)
c.5331C>G (p.Cys1777Trp)
c.4632C>G (p.Cys1544Trp)
c.5379C>G (p.Cys1793Trp)
 dbSNP
16g.3729662G>TCA394557003CREBBPc.5385C>A (p.Cys1795Ter)
c.5271C>A (p.Cys1757Ter)
c.5340C>A (p.Cys1780Ter)
c.4968C>A (p.Cys1656Ter)
c.5124C>A (p.Cys1708Ter)
c.5331C>A (p.Cys1777Ter)
c.4632C>A (p.Cys1544Ter)
c.5379C>A (p.Cys1793Ter)
 dbSNP
16g.3729663C>ACA394557004CREBBPc.5384G>T (p.Cys1795Phe)
c.5270G>T (p.Cys1757Phe)
c.5339G>T (p.Cys1780Phe)
c.4967G>T (p.Cys1656Phe)
c.5123G>T (p.Cys1708Phe)
c.5330G>T (p.Cys1777Phe)
c.4631G>T (p.Cys1544Phe)
c.5378G>T (p.Cys1793Phe)
16g.3729663C>GCA394557005CREBBPc.5384G>C (p.Cys1795Ser)
c.5270G>C (p.Cys1757Ser)
c.5339G>C (p.Cys1780Ser)
c.4967G>C (p.Cys1656Ser)
c.5123G>C (p.Cys1708Ser)
c.5330G>C (p.Cys1777Ser)
c.4631G>C (p.Cys1544Ser)
c.5378G>C (p.Cys1793Ser)
16g.3729663C>TCA394557006CREBBPc.5384G>A (p.Cys1795Tyr)
c.5270G>A (p.Cys1757Tyr)
c.5339G>A (p.Cys1780Tyr)
c.4967G>A (p.Cys1656Tyr)
c.5123G>A (p.Cys1708Tyr)
c.5330G>A (p.Cys1777Tyr)
c.4631G>A (p.Cys1544Tyr)
c.5378G>A (p.Cys1793Tyr)
16g.3729664A>CCA394557007CREBBPc.5383T>G (p.Cys1795Gly)
c.5269T>G (p.Cys1757Gly)
c.5338T>G (p.Cys1780Gly)
c.4966T>G (p.Cys1656Gly)
c.5122T>G (p.Cys1708Gly)
c.5329T>G (p.Cys1777Gly)
c.4630T>G (p.Cys1544Gly)
c.5377T>G (p.Cys1793Gly)
16g.3729664A>GCA394557008CREBBPc.5383T>C (p.Cys1795Arg)
c.5269T>C (p.Cys1757Arg)
c.5338T>C (p.Cys1780Arg)
c.4966T>C (p.Cys1656Arg)
c.5122T>C (p.Cys1708Arg)
c.5329T>C (p.Cys1777Arg)
c.4630T>C (p.Cys1544Arg)
c.5377T>C (p.Cys1793Arg)
 dbSNP COSMIC
16g.3729664A>TCA394557009CREBBPc.5383T>A (p.Cys1795Ser)
c.5269T>A (p.Cys1757Ser)
c.5338T>A (p.Cys1780Ser)
c.4966T>A (p.Cys1656Ser)
c.5122T>A (p.Cys1708Ser)
c.5329T>A (p.Cys1777Ser)
c.4630T>A (p.Cys1544Ser)
c.5377T>A (p.Cys1793Ser)
 dbSNP
16g.3729665G>ACA493394135CREBBPc.5382C>T (p.Ser1794=)
c.5268C>T (p.Ser1756=)
c.5337C>T (p.Ser1779=)
c.4965C>T (p.Ser1655=)
c.5121C>T (p.Ser1707=)
c.5328C>T (p.Ser1776=)
c.4629C>T (p.Ser1543=)
c.5376C>T (p.Ser1792=)
 dbSNP
16g.3729665G>CCA493394136CREBBPc.5382C>G (p.Ser1794=)
c.5268C>G (p.Ser1756=)
c.5337C>G (p.Ser1779=)
c.4965C>G (p.Ser1655=)
c.5121C>G (p.Ser1707=)
c.5328C>G (p.Ser1776=)
c.4629C>G (p.Ser1543=)
c.5376C>G (p.Ser1792=)
 dbSNP gnomAD v4
16g.3729665G>TCA493394137CREBBPc.5382C>A (p.Ser1794=)
c.5268C>A (p.Ser1756=)
c.5337C>A (p.Ser1779=)
c.4965C>A (p.Ser1655=)
c.5121C>A (p.Ser1707=)
c.5328C>A (p.Ser1776=)
c.4629C>A (p.Ser1543=)
c.5376C>A (p.Ser1792=)
 dbSNP
16g.3729666G>ACA394557010CREBBPc.5381C>T (p.Ser1794Phe)
c.5267C>T (p.Ser1756Phe)
c.5336C>T (p.Ser1779Phe)
c.4964C>T (p.Ser1655Phe)
c.5120C>T (p.Ser1707Phe)
c.5327C>T (p.Ser1776Phe)
c.4628C>T (p.Ser1543Phe)
c.5375C>T (p.Ser1792Phe)
 dbSNP gnomAD v4
16g.3729666G>CCA394557011CREBBPc.5381C>G (p.Ser1794Cys)
c.5267C>G (p.Ser1756Cys)
c.5336C>G (p.Ser1779Cys)
c.4964C>G (p.Ser1655Cys)
c.5120C>G (p.Ser1707Cys)
c.5327C>G (p.Ser1776Cys)
c.4628C>G (p.Ser1543Cys)
c.5375C>G (p.Ser1792Cys)
 dbSNP
16g.3729666G>TCA394557012CREBBPc.5381C>A (p.Ser1794Tyr)
c.5267C>A (p.Ser1756Tyr)
c.5336C>A (p.Ser1779Tyr)
c.4964C>A (p.Ser1655Tyr)
c.5120C>A (p.Ser1707Tyr)
c.5327C>A (p.Ser1776Tyr)
c.4628C>A (p.Ser1543Tyr)
c.5375C>A (p.Ser1792Tyr)
16g.3729667A>CCA394557013CREBBPc.5380T>G (p.Ser1794Ala)
c.5266T>G (p.Ser1756Ala)
c.5335T>G (p.Ser1779Ala)
c.4963T>G (p.Ser1655Ala)
c.5119T>G (p.Ser1707Ala)
c.5326T>G (p.Ser1776Ala)
c.4627T>G (p.Ser1543Ala)
c.5374T>G (p.Ser1792Ala)
16g.3729667A>GCA394557014CREBBPc.5380T>C (p.Ser1794Pro)
c.5266T>C (p.Ser1756Pro)
c.5335T>C (p.Ser1779Pro)
c.4963T>C (p.Ser1655Pro)
c.5119T>C (p.Ser1707Pro)
c.5326T>C (p.Ser1776Pro)
c.4627T>C (p.Ser1543Pro)
c.5374T>C (p.Ser1792Pro)
 dbSNP
16g.3729667A>TCA394557015CREBBPc.5380T>A (p.Ser1794Thr)
c.5266T>A (p.Ser1756Thr)
c.5335T>A (p.Ser1779Thr)
c.4963T>A (p.Ser1655Thr)
c.5119T>A (p.Ser1707Thr)
c.5326T>A (p.Ser1776Thr)
c.4627T>A (p.Ser1543Thr)
c.5374T>A (p.Ser1792Thr)
 dbSNP
16g.3729668T>ACA493394141CREBBPc.5379A>T (p.Pro1793=)
c.5265A>T (p.Pro1755=)
c.5334A>T (p.Pro1778=)
c.4962A>T (p.Pro1654=)
c.5118A>T (p.Pro1706=)
c.5325A>T (p.Pro1775=)
c.4626A>T (p.Pro1542=)
c.5373A>T (p.Pro1791=)
16g.3729668T>CCA7869284CREBBPc.5379A>G (p.Pro1793=)
c.5265A>G (p.Pro1755=)
c.5334A>G (p.Pro1778=)
c.4962A>G (p.Pro1654=)
c.5118A>G (p.Pro1706=)
c.5325A>G (p.Pro1775=)
c.4626A>G (p.Pro1542=)
c.5373A>G (p.Pro1791=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729668T>GCA493394144CREBBPc.5379A>C (p.Pro1793=)
c.5265A>C (p.Pro1755=)
c.5334A>C (p.Pro1778=)
c.4962A>C (p.Pro1654=)
c.5118A>C (p.Pro1706=)
c.5325A>C (p.Pro1775=)
c.4626A>C (p.Pro1542=)
c.5373A>C (p.Pro1791=)
16g.3729668T=CA2202916480CREBBPc.5379A= (p.Pro1793=)
c.5265A= (p.Pro1755=)
c.5334A= (p.Pro1778=)
c.4962A= (p.Pro1654=)
c.5118A= (p.Pro1706=)
c.5325A= (p.Pro1775=)
c.4626A= (p.Pro1542=)
c.5373A= (p.Pro1791=)
16g.3729669G>ACA394557017CREBBPc.5378C>T (p.Pro1793Leu)
c.5264C>T (p.Pro1755Leu)
c.5333C>T (p.Pro1778Leu)
c.4961C>T (p.Pro1654Leu)
c.5117C>T (p.Pro1706Leu)
c.5324C>T (p.Pro1775Leu)
c.4625C>T (p.Pro1542Leu)
c.5372C>T (p.Pro1791Leu)
 gnomAD v4
16g.3729669G>CCA394557018CREBBPc.5378C>G (p.Pro1793Arg)
c.5264C>G (p.Pro1755Arg)
c.5333C>G (p.Pro1778Arg)
c.4961C>G (p.Pro1654Arg)
c.5117C>G (p.Pro1706Arg)
c.5324C>G (p.Pro1775Arg)
c.4625C>G (p.Pro1542Arg)
c.5372C>G (p.Pro1791Arg)
16g.3729669G>TCA394557016CREBBPc.5378C>A (p.Pro1793Gln)
c.5264C>A (p.Pro1755Gln)
c.5333C>A (p.Pro1778Gln)
c.4961C>A (p.Pro1654Gln)
c.5117C>A (p.Pro1706Gln)
c.5324C>A (p.Pro1775Gln)
c.4625C>A (p.Pro1542Gln)
c.5372C>A (p.Pro1791Gln)
 dbSNP
16g.3729670G>ACA394557020CREBBPc.5377C>T (p.Pro1793Ser)
c.5263C>T (p.Pro1755Ser)
c.5332C>T (p.Pro1778Ser)
c.4960C>T (p.Pro1654Ser)
c.5116C>T (p.Pro1706Ser)
c.5323C>T (p.Pro1775Ser)
c.4624C>T (p.Pro1542Ser)
c.5371C>T (p.Pro1791Ser)
 dbSNP
16g.3729670G>CCA394557019CREBBPc.5377C>G (p.Pro1793Ala)
c.5263C>G (p.Pro1755Ala)
c.5332C>G (p.Pro1778Ala)
c.4960C>G (p.Pro1654Ala)
c.5116C>G (p.Pro1706Ala)
c.5323C>G (p.Pro1775Ala)
c.4624C>G (p.Pro1542Ala)
c.5371C>G (p.Pro1791Ala)
 dbSNP
16g.3729670G>TCA394557021CREBBPc.5377C>A (p.Pro1793Thr)
c.5263C>A (p.Pro1755Thr)
c.5332C>A (p.Pro1778Thr)
c.4960C>A (p.Pro1654Thr)
c.5116C>A (p.Pro1706Thr)
c.5323C>A (p.Pro1775Thr)
c.4624C>A (p.Pro1542Thr)
c.5371C>A (p.Pro1791Thr)
 dbSNP
16g.3729671C>ACA493394149CREBBPc.5376G>T (p.Leu1792=)
c.5262G>T (p.Leu1754=)
c.5331G>T (p.Leu1777=)
c.4959G>T (p.Leu1653=)
c.5115G>T (p.Leu1705=)
c.5322G>T (p.Leu1774=)
c.4623G>T (p.Leu1541=)
c.5370G>T (p.Leu1790=)
 dbSNP
16g.3729671C>GCA493394150CREBBPc.5376G>C (p.Leu1792=)
c.5262G>C (p.Leu1754=)
c.5331G>C (p.Leu1777=)
c.4959G>C (p.Leu1653=)
c.5115G>C (p.Leu1705=)
c.5322G>C (p.Leu1774=)
c.4623G>C (p.Leu1541=)
c.5370G>C (p.Leu1790=)
 dbSNP
16g.3729671C>TCA493394151CREBBPc.5376G>A (p.Leu1792=)
c.5262G>A (p.Leu1754=)
c.5331G>A (p.Leu1777=)
c.4959G>A (p.Leu1653=)
c.5115G>A (p.Leu1705=)
c.5322G>A (p.Leu1774=)
c.4623G>A (p.Leu1541=)
c.5370G>A (p.Leu1790=)
 dbSNP gnomAD v4
16g.3729672A>CCA394557022CREBBPc.5375T>G (p.Leu1792Arg)
c.5261T>G (p.Leu1754Arg)
c.5330T>G (p.Leu1777Arg)
c.4958T>G (p.Leu1653Arg)
c.5114T>G (p.Leu1705Arg)
c.5321T>G (p.Leu1774Arg)
c.4622T>G (p.Leu1541Arg)
c.5369T>G (p.Leu1790Arg)
16g.3729672A>GCA394557023CREBBPc.5375T>C (p.Leu1792Pro)
c.5261T>C (p.Leu1754Pro)
c.5330T>C (p.Leu1777Pro)
c.4958T>C (p.Leu1653Pro)
c.5114T>C (p.Leu1705Pro)
c.5321T>C (p.Leu1774Pro)
c.4622T>C (p.Leu1541Pro)
c.5369T>C (p.Leu1790Pro)
 dbSNP
16g.3729672A>TCA394557024CREBBPc.5375T>A (p.Leu1792Gln)
c.5261T>A (p.Leu1754Gln)
c.5330T>A (p.Leu1777Gln)
c.4958T>A (p.Leu1653Gln)
c.5114T>A (p.Leu1705Gln)
c.5321T>A (p.Leu1774Gln)
c.4622T>A (p.Leu1541Gln)
c.5369T>A (p.Leu1790Gln)
 dbSNP
16g.3729673G>ACA7869285CREBBPc.5374C>T (p.Leu1792=)
c.5260C>T (p.Leu1754=)
c.5329C>T (p.Leu1777=)
c.4957C>T (p.Leu1653=)
c.5113C>T (p.Leu1705=)
c.5320C>T (p.Leu1774=)
c.4621C>T (p.Leu1541=)
c.5368C>T (p.Leu1790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729673G>CCA394557025CREBBPc.5374C>G (p.Leu1792Val)
c.5260C>G (p.Leu1754Val)
c.5329C>G (p.Leu1777Val)
c.4957C>G (p.Leu1653Val)
c.5113C>G (p.Leu1705Val)
c.5320C>G (p.Leu1774Val)
c.4621C>G (p.Leu1541Val)
c.5368C>G (p.Leu1790Val)
 dbSNP
16g.3729673G=CA2202916481CREBBPc.5374C= (p.Leu1792=)
c.5260C= (p.Leu1754=)
c.5329C= (p.Leu1777=)
c.4957C= (p.Leu1653=)
c.5113C= (p.Leu1705=)
c.5320C= (p.Leu1774=)
c.4621C= (p.Leu1541=)
c.5368C= (p.Leu1790=)
16g.3729673G>TCA394557026CREBBPc.5374C>A (p.Leu1792Met)
c.5260C>A (p.Leu1754Met)
c.5329C>A (p.Leu1777Met)
c.4957C>A (p.Leu1653Met)
c.5113C>A (p.Leu1705Met)
c.5320C>A (p.Leu1774Met)
c.4621C>A (p.Leu1541Met)
c.5368C>A (p.Leu1790Met)
16g.3729674C>ACA493394155CREBBPc.5373G>T (p.Ser1791=)
c.5259G>T (p.Ser1753=)
c.5328G>T (p.Ser1776=)
c.4956G>T (p.Ser1652=)
c.5112G>T (p.Ser1704=)
c.5319G>T (p.Ser1773=)
c.4620G>T (p.Ser1540=)
c.5367G>T (p.Ser1789=)
 dbSNP
16g.3729674C=CA2202916482CREBBPc.5373G= (p.Ser1791=)
c.5259G= (p.Ser1753=)
c.5328G= (p.Ser1776=)
c.4956G= (p.Ser1652=)
c.5112G= (p.Ser1704=)
c.5319G= (p.Ser1773=)
c.4620G= (p.Ser1540=)
c.5367G= (p.Ser1789=)
16g.3729674C>GCA493394157CREBBPc.5373G>C (p.Ser1791=)
c.5259G>C (p.Ser1753=)
c.5328G>C (p.Ser1776=)
c.4956G>C (p.Ser1652=)
c.5112G>C (p.Ser1704=)
c.5319G>C (p.Ser1773=)
c.4620G>C (p.Ser1540=)
c.5367G>C (p.Ser1789=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729674C>TCA7869286CREBBPc.5373G>A (p.Ser1791=)
c.5259G>A (p.Ser1753=)
c.5328G>A (p.Ser1776=)
c.4956G>A (p.Ser1652=)
c.5112G>A (p.Ser1704=)
c.5319G>A (p.Ser1773=)
c.4620G>A (p.Ser1540=)
c.5367G>A (p.Ser1789=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729675G>ACA394557027CREBBPc.5372C>T (p.Ser1791Leu)
c.5258C>T (p.Ser1753Leu)
c.5327C>T (p.Ser1776Leu)
c.4955C>T (p.Ser1652Leu)
c.5111C>T (p.Ser1704Leu)
c.5318C>T (p.Ser1773Leu)
c.4619C>T (p.Ser1540Leu)
c.5366C>T (p.Ser1789Leu)
 dbSNP gnomAD v4
16g.3729675G>CCA394557028CREBBPc.5372C>G (p.Ser1791Trp)
c.5258C>G (p.Ser1753Trp)
c.5327C>G (p.Ser1776Trp)
c.4955C>G (p.Ser1652Trp)
c.5111C>G (p.Ser1704Trp)
c.5318C>G (p.Ser1773Trp)
c.4619C>G (p.Ser1540Trp)
c.5366C>G (p.Ser1789Trp)
 dbSNP
16g.3729675G=CA2202916483CREBBPc.5372C= (p.Ser1791=)
c.5258C= (p.Ser1753=)
c.5327C= (p.Ser1776=)
c.4955C= (p.Ser1652=)
c.5111C= (p.Ser1704=)
c.5318C= (p.Ser1773=)
c.4619C= (p.Ser1540=)
c.5366C= (p.Ser1789=)
16g.3729675G>TCA394557029CREBBPc.5372C>A (p.Ser1791Ter)
c.5258C>A (p.Ser1753Ter)
c.5327C>A (p.Ser1776Ter)
c.4955C>A (p.Ser1652Ter)
c.5111C>A (p.Ser1704Ter)
c.5318C>A (p.Ser1773Ter)
c.4619C>A (p.Ser1540Ter)
c.5366C>A (p.Ser1789Ter)
 dbSNP
16g.3729676A=CA2202916484CREBBPc.5371T= (p.Ser1791=)
c.5257T= (p.Ser1753=)
c.5326T= (p.Ser1776=)
c.4954T= (p.Ser1652=)
c.5110T= (p.Ser1704=)
c.5317T= (p.Ser1773=)
c.4618T= (p.Ser1540=)
c.5365T= (p.Ser1789=)
16g.3729676A>CCA7869287CREBBPc.5371T>G (p.Ser1791Ala)
c.5257T>G (p.Ser1753Ala)
c.5326T>G (p.Ser1776Ala)
c.4954T>G (p.Ser1652Ala)
c.5110T>G (p.Ser1704Ala)
c.5317T>G (p.Ser1773Ala)
c.4618T>G (p.Ser1540Ala)
c.5365T>G (p.Ser1789Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729676A>GCA394557030CREBBPc.5371T>C (p.Ser1791Pro)
c.5257T>C (p.Ser1753Pro)
c.5326T>C (p.Ser1776Pro)
c.4954T>C (p.Ser1652Pro)
c.5110T>C (p.Ser1704Pro)
c.5317T>C (p.Ser1773Pro)
c.4618T>C (p.Ser1540Pro)
c.5365T>C (p.Ser1789Pro)
 COSMIC
16g.3729676A>TCA394557031CREBBPc.5371T>A (p.Ser1791Thr)
c.5257T>A (p.Ser1753Thr)
c.5326T>A (p.Ser1776Thr)
c.4954T>A (p.Ser1652Thr)
c.5110T>A (p.Ser1704Thr)
c.5317T>A (p.Ser1773Thr)
c.4618T>A (p.Ser1540Thr)
c.5365T>A (p.Ser1789Thr)
 dbSNP
16g.3729677G>ACA493394163CREBBPc.5370C>T (p.Cys1790=)
c.5256C>T (p.Cys1752=)
c.5325C>T (p.Cys1775=)
c.4953C>T (p.Cys1651=)
c.5109C>T (p.Cys1703=)
c.5316C>T (p.Cys1772=)
c.4617C>T (p.Cys1539=)
c.5364C>T (p.Cys1788=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729677G>CCA394557032CREBBPc.5370C>G (p.Cys1790Trp)
c.5256C>G (p.Cys1752Trp)
c.5325C>G (p.Cys1775Trp)
c.4953C>G (p.Cys1651Trp)
c.5109C>G (p.Cys1703Trp)
c.5316C>G (p.Cys1772Trp)
c.4617C>G (p.Cys1539Trp)
c.5364C>G (p.Cys1788Trp)
 dbSNP
16g.3729677G=CA2202916485CREBBPc.5370C= (p.Cys1790=)
c.5256C= (p.Cys1752=)
c.5325C= (p.Cys1775=)
c.4953C= (p.Cys1651=)
c.5109C= (p.Cys1703=)
c.5316C= (p.Cys1772=)
c.4617C= (p.Cys1539=)
c.5364C= (p.Cys1788=)
16g.3729677G>TCA394557033CREBBPc.5370C>A (p.Cys1790Ter)
c.5256C>A (p.Cys1752Ter)
c.5325C>A (p.Cys1775Ter)
c.4953C>A (p.Cys1651Ter)
c.5109C>A (p.Cys1703Ter)
c.5316C>A (p.Cys1772Ter)
c.4617C>A (p.Cys1539Ter)
c.5364C>A (p.Cys1788Ter)
16g.3729678C>ACA394557034CREBBPc.5369G>T (p.Cys1790Phe)
c.5255G>T (p.Cys1752Phe)
c.5324G>T (p.Cys1775Phe)
c.4952G>T (p.Cys1651Phe)
c.5108G>T (p.Cys1703Phe)
c.5315G>T (p.Cys1772Phe)
c.4616G>T (p.Cys1539Phe)
c.5363G>T (p.Cys1788Phe)
16g.3729678C>GCA394557035CREBBPc.5369G>C (p.Cys1790Ser)
c.5255G>C (p.Cys1752Ser)
c.5324G>C (p.Cys1775Ser)
c.4952G>C (p.Cys1651Ser)
c.5108G>C (p.Cys1703Ser)
c.5315G>C (p.Cys1772Ser)
c.4616G>C (p.Cys1539Ser)
c.5363G>C (p.Cys1788Ser)
 dbSNP
16g.3729678C>TCA394557036CREBBPc.5369G>A (p.Cys1790Tyr)
c.5255G>A (p.Cys1752Tyr)
c.5324G>A (p.Cys1775Tyr)
c.4952G>A (p.Cys1651Tyr)
c.5108G>A (p.Cys1703Tyr)
c.5315G>A (p.Cys1772Tyr)
c.4616G>A (p.Cys1539Tyr)
c.5363G>A (p.Cys1788Tyr)
 dbSNP
16g.3729679A>CCA394557037CREBBPc.5368T>G (p.Cys1790Gly)
c.5254T>G (p.Cys1752Gly)
c.5323T>G (p.Cys1775Gly)
c.4951T>G (p.Cys1651Gly)
c.5107T>G (p.Cys1703Gly)
c.5314T>G (p.Cys1772Gly)
c.4615T>G (p.Cys1539Gly)
c.5362T>G (p.Cys1788Gly)
16g.3729679A>GCA394557038CREBBPc.5368T>C (p.Cys1790Arg)
c.5254T>C (p.Cys1752Arg)
c.5323T>C (p.Cys1775Arg)
c.4951T>C (p.Cys1651Arg)
c.5107T>C (p.Cys1703Arg)
c.5314T>C (p.Cys1772Arg)
c.4615T>C (p.Cys1539Arg)
c.5362T>C (p.Cys1788Arg)
16g.3729679A>TCA394557039CREBBPc.5368T>A (p.Cys1790Ser)
c.5254T>A (p.Cys1752Ser)
c.5323T>A (p.Cys1775Ser)
c.4951T>A (p.Cys1651Ser)
c.5107T>A (p.Cys1703Ser)
c.5314T>A (p.Cys1772Ser)
c.4615T>A (p.Cys1539Ser)
c.5362T>A (p.Cys1788Ser)
 dbSNP
16g.3729680G>ACA493394167CREBBPc.5367C>T (p.Asn1789=)
c.5253C>T (p.Asn1751=)
c.5322C>T (p.Asn1774=)
c.4950C>T (p.Asn1650=)
c.5106C>T (p.Asn1702=)
c.5313C>T (p.Asn1771=)
c.4614C>T (p.Asn1538=)
c.5361C>T (p.Asn1787=)
16g.3729680G>CCA394557040CREBBPc.5367C>G (p.Asn1789Lys)
c.5253C>G (p.Asn1751Lys)
c.5322C>G (p.Asn1774Lys)
c.4950C>G (p.Asn1650Lys)
c.5106C>G (p.Asn1702Lys)
c.5313C>G (p.Asn1771Lys)
c.4614C>G (p.Asn1538Lys)
c.5361C>G (p.Asn1787Lys)
 ClinVar dbSNP
16g.3729680G>TCA394557041CREBBPc.5367C>A (p.Asn1789Lys)
c.5253C>A (p.Asn1751Lys)
c.5322C>A (p.Asn1774Lys)
c.4950C>A (p.Asn1650Lys)
c.5106C>A (p.Asn1702Lys)
c.5313C>A (p.Asn1771Lys)
c.4614C>A (p.Asn1538Lys)
c.5361C>A (p.Asn1787Lys)
 COSMIC
16g.3729681T>ACA394557042CREBBPc.5366A>T (p.Asn1789Ile)
c.5252A>T (p.Asn1751Ile)
c.5321A>T (p.Asn1774Ile)
c.4949A>T (p.Asn1650Ile)
c.5105A>T (p.Asn1702Ile)
c.5312A>T (p.Asn1771Ile)
c.4613A>T (p.Asn1538Ile)
c.5360A>T (p.Asn1787Ile)
 dbSNP
16g.3729681T>CCA394557043CREBBPc.5366A>G (p.Asn1789Ser)
c.5252A>G (p.Asn1751Ser)
c.5321A>G (p.Asn1774Ser)
c.4949A>G (p.Asn1650Ser)
c.5105A>G (p.Asn1702Ser)
c.5312A>G (p.Asn1771Ser)
c.4613A>G (p.Asn1538Ser)
c.5360A>G (p.Asn1787Ser)
 ClinVar dbSNP
16g.3729681T>GCA16620199CREBBPc.5366A>C (p.Asn1789Thr)
c.5252A>C (p.Asn1751Thr)
c.5321A>C (p.Asn1774Thr)
c.4949A>C (p.Asn1650Thr)
c.5105A>C (p.Asn1702Thr)
c.5312A>C (p.Asn1771Thr)
c.4613A>C (p.Asn1538Thr)
c.5360A>C (p.Asn1787Thr)
 ClinVar dbSNP
16g.3729681T=CA2202916486CREBBPc.5366A= (p.Asn1789=)
c.5252A= (p.Asn1751=)
c.5321A= (p.Asn1774=)
c.4949A= (p.Asn1650=)
c.5105A= (p.Asn1702=)
c.5312A= (p.Asn1771=)
c.4613A= (p.Asn1538=)
c.5360A= (p.Asn1787=)
16g.3729682T>ACA394557045CREBBPc.5365A>T (p.Asn1789Tyr)
c.5251A>T (p.Asn1751Tyr)
c.5320A>T (p.Asn1774Tyr)
c.4948A>T (p.Asn1650Tyr)
c.5104A>T (p.Asn1702Tyr)
c.5311A>T (p.Asn1771Tyr)
c.4612A>T (p.Asn1538Tyr)
c.5359A>T (p.Asn1787Tyr)
 dbSNP
16g.3729682T>CCA394557046CREBBPc.5365A>G (p.Asn1789Asp)
c.5251A>G (p.Asn1751Asp)
c.5320A>G (p.Asn1774Asp)
c.4948A>G (p.Asn1650Asp)
c.5104A>G (p.Asn1702Asp)
c.5311A>G (p.Asn1771Asp)
c.4612A>G (p.Asn1538Asp)
c.5359A>G (p.Asn1787Asp)
 dbSNP
16g.3729682T>GCA394557044CREBBPc.5365A>C (p.Asn1789His)
c.5251A>C (p.Asn1751His)
c.5320A>C (p.Asn1774His)
c.4948A>C (p.Asn1650His)
c.5104A>C (p.Asn1702His)
c.5311A>C (p.Asn1771His)
c.4612A>C (p.Asn1538His)
c.5359A>C (p.Asn1787His)
16g.3729683G>ACA493394168CREBBPc.5364C>T (p.Ala1788=)
c.5250C>T (p.Ala1750=)
c.5319C>T (p.Ala1773=)
c.4947C>T (p.Ala1649=)
c.5103C>T (p.Ala1701=)
c.5310C>T (p.Ala1770=)
c.4611C>T (p.Ala1537=)
c.5358C>T (p.Ala1786=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729683G>CCA493394170CREBBPc.5364C>G (p.Ala1788=)
c.5250C>G (p.Ala1750=)
c.5319C>G (p.Ala1773=)
c.4947C>G (p.Ala1649=)
c.5103C>G (p.Ala1701=)
c.5310C>G (p.Ala1770=)
c.4611C>G (p.Ala1537=)
c.5358C>G (p.Ala1786=)
16g.3729683G=CA2202916487CREBBPc.5364C= (p.Ala1788=)
c.5250C= (p.Ala1750=)
c.5319C= (p.Ala1773=)
c.4947C= (p.Ala1649=)
c.5103C= (p.Ala1701=)
c.5310C= (p.Ala1770=)
c.4611C= (p.Ala1537=)
c.5358C= (p.Ala1786=)
16g.3729683G>TCA493394169CREBBPc.5364C>A (p.Ala1788=)
c.5250C>A (p.Ala1750=)
c.5319C>A (p.Ala1773=)
c.4947C>A (p.Ala1649=)
c.5103C>A (p.Ala1701=)
c.5310C>A (p.Ala1770=)
c.4611C>A (p.Ala1537=)
c.5358C>A (p.Ala1786=)
 dbSNP
16g.3729684G>ACA394557047CREBBPc.5363C>T (p.Ala1788Val)
c.5249C>T (p.Ala1750Val)
c.5318C>T (p.Ala1773Val)
c.4946C>T (p.Ala1649Val)
c.5102C>T (p.Ala1701Val)
c.5309C>T (p.Ala1770Val)
c.4610C>T (p.Ala1537Val)
c.5357C>T (p.Ala1786Val)
 dbSNP
16g.3729684G>CCA394557048CREBBPc.5363C>G (p.Ala1788Gly)
c.5249C>G (p.Ala1750Gly)
c.5318C>G (p.Ala1773Gly)
c.4946C>G (p.Ala1649Gly)
c.5102C>G (p.Ala1701Gly)
c.5309C>G (p.Ala1770Gly)
c.4610C>G (p.Ala1537Gly)
c.5357C>G (p.Ala1786Gly)
 dbSNP
16g.3729684G>TCA394557049CREBBPc.5363C>A (p.Ala1788Asp)
c.5249C>A (p.Ala1750Asp)
c.5318C>A (p.Ala1773Asp)
c.4946C>A (p.Ala1649Asp)
c.5102C>A (p.Ala1701Asp)
c.5309C>A (p.Ala1770Asp)
c.4610C>A (p.Ala1537Asp)
c.5357C>A (p.Ala1786Asp)
 dbSNP
16g.3729685C>ACA394557050CREBBPc.5362G>T (p.Ala1788Ser)
c.5248G>T (p.Ala1750Ser)
c.5317G>T (p.Ala1773Ser)
c.4945G>T (p.Ala1649Ser)
c.5101G>T (p.Ala1701Ser)
c.5308G>T (p.Ala1770Ser)
c.4609G>T (p.Ala1537Ser)
c.5356G>T (p.Ala1786Ser)
 dbSNP
16g.3729685C=CA2202916488CREBBPc.5362G= (p.Ala1788=)
c.5248G= (p.Ala1750=)
c.5317G= (p.Ala1773=)
c.4945G= (p.Ala1649=)
c.5101G= (p.Ala1701=)
c.5308G= (p.Ala1770=)
c.4609G= (p.Ala1537=)
c.5356G= (p.Ala1786=)
16g.3729685C>GCA394557051CREBBPc.5362G>C (p.Ala1788Pro)
c.5248G>C (p.Ala1750Pro)
c.5317G>C (p.Ala1773Pro)
c.4945G>C (p.Ala1649Pro)
c.5101G>C (p.Ala1701Pro)
c.5308G>C (p.Ala1770Pro)
c.4609G>C (p.Ala1537Pro)
c.5356G>C (p.Ala1786Pro)
 dbSNP
16g.3729685C>TCA16620200CREBBPc.5362G>A (p.Ala1788Thr)
c.5248G>A (p.Ala1750Thr)
c.5317G>A (p.Ala1773Thr)
c.4945G>A (p.Ala1649Thr)
c.5101G>A (p.Ala1701Thr)
c.5308G>A (p.Ala1770Thr)
c.4609G>A (p.Ala1537Thr)
c.5356G>A (p.Ala1786Thr)
 ClinVar dbSNP
16g.3729686G>ACA222701CREBBPc.5361C>T (p.Asn1787=)
c.5247C>T (p.Asn1749=)
c.5316C>T (p.Asn1772=)
c.4944C>T (p.Asn1648=)
c.5100C>T (p.Asn1700=)
c.5307C>T (p.Asn1769=)
c.4608C>T (p.Asn1536=)
c.5355C>T (p.Asn1785=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729686G>CCA394557052CREBBPc.5361C>G (p.Asn1787Lys)
c.5247C>G (p.Asn1749Lys)
c.5316C>G (p.Asn1772Lys)
c.4944C>G (p.Asn1648Lys)
c.5100C>G (p.Asn1700Lys)
c.5307C>G (p.Asn1769Lys)
c.4608C>G (p.Asn1536Lys)
c.5355C>G (p.Asn1785Lys)
 dbSNP
16g.3729686G=CA2202916489CREBBPc.5361C= (p.Asn1787=)
c.5247C= (p.Asn1749=)
c.5316C= (p.Asn1772=)
c.4944C= (p.Asn1648=)
c.5100C= (p.Asn1700=)
c.5307C= (p.Asn1769=)
c.4608C= (p.Asn1536=)
c.5355C= (p.Asn1785=)
16g.3729686G>TCA394557053CREBBPc.5361C>A (p.Asn1787Lys)
c.5247C>A (p.Asn1749Lys)
c.5316C>A (p.Asn1772Lys)
c.4944C>A (p.Asn1648Lys)
c.5100C>A (p.Asn1700Lys)
c.5307C>A (p.Asn1769Lys)
c.4608C>A (p.Asn1536Lys)
c.5355C>A (p.Asn1785Lys)
 ClinVar dbSNP
16g.3729687T>ACA394557054CREBBPc.5360A>T (p.Asn1787Ile)
c.5246A>T (p.Asn1749Ile)
c.5315A>T (p.Asn1772Ile)
c.4943A>T (p.Asn1648Ile)
c.5099A>T (p.Asn1700Ile)
c.5306A>T (p.Asn1769Ile)
c.4607A>T (p.Asn1536Ile)
c.5354A>T (p.Asn1785Ile)
 dbSNP
16g.3729687T>CCA394557055CREBBPc.5360A>G (p.Asn1787Ser)
c.5246A>G (p.Asn1749Ser)
c.5315A>G (p.Asn1772Ser)
c.4943A>G (p.Asn1648Ser)
c.5099A>G (p.Asn1700Ser)
c.5306A>G (p.Asn1769Ser)
c.4607A>G (p.Asn1536Ser)
c.5354A>G (p.Asn1785Ser)
 dbSNP
16g.3729687T>GCA394557056CREBBPc.5360A>C (p.Asn1787Thr)
c.5246A>C (p.Asn1749Thr)
c.5315A>C (p.Asn1772Thr)
c.4943A>C (p.Asn1648Thr)
c.5099A>C (p.Asn1700Thr)
c.5306A>C (p.Asn1769Thr)
c.4607A>C (p.Asn1536Thr)
c.5354A>C (p.Asn1785Thr)
 dbSNP
16g.3729688T>ACA394557058CREBBPc.5359A>T (p.Asn1787Tyr)
c.5245A>T (p.Asn1749Tyr)
c.5314A>T (p.Asn1772Tyr)
c.4942A>T (p.Asn1648Tyr)
c.5098A>T (p.Asn1700Tyr)
c.5305A>T (p.Asn1769Tyr)
c.4606A>T (p.Asn1536Tyr)
c.5353A>T (p.Asn1785Tyr)
 dbSNP
16g.3729688T>CCA394557059CREBBPc.5359A>G (p.Asn1787Asp)
c.5245A>G (p.Asn1749Asp)
c.5314A>G (p.Asn1772Asp)
c.4942A>G (p.Asn1648Asp)
c.5098A>G (p.Asn1700Asp)
c.5305A>G (p.Asn1769Asp)
c.4606A>G (p.Asn1536Asp)
c.5353A>G (p.Asn1785Asp)
 dbSNP
16g.3729688T>GCA394557057CREBBPc.5359A>C (p.Asn1787His)
c.5245A>C (p.Asn1749His)
c.5314A>C (p.Asn1772His)
c.4942A>C (p.Asn1648His)
c.5098A>C (p.Asn1700His)
c.5305A>C (p.Asn1769His)
c.4606A>C (p.Asn1536His)
c.5353A>C (p.Asn1785His)
 dbSNP
16g.3729689G>ACA493394175CREBBPc.5358C>T (p.Arg1786=)
c.5244C>T (p.Arg1748=)
c.5313C>T (p.Arg1771=)
c.4941C>T (p.Arg1647=)
c.5097C>T (p.Arg1699=)
c.5304C>T (p.Arg1768=)
c.4605C>T (p.Arg1535=)
c.5352C>T (p.Arg1784=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729689G>CCA493394176CREBBPc.5358C>G (p.Arg1786=)
c.5244C>G (p.Arg1748=)
c.5313C>G (p.Arg1771=)
c.4941C>G (p.Arg1647=)
c.5097C>G (p.Arg1699=)
c.5304C>G (p.Arg1768=)
c.4605C>G (p.Arg1535=)
c.5352C>G (p.Arg1784=)
16g.3729689G=CA2202916490CREBBPc.5358C= (p.Arg1786=)
c.5244C= (p.Arg1748=)
c.5313C= (p.Arg1771=)
c.4941C= (p.Arg1647=)
c.5097C= (p.Arg1699=)
c.5304C= (p.Arg1768=)
c.4605C= (p.Arg1535=)
c.5352C= (p.Arg1784=)
16g.3729689G>TCA493394177CREBBPc.5358C>A (p.Arg1786=)
c.5244C>A (p.Arg1748=)
c.5313C>A (p.Arg1771=)
c.4941C>A (p.Arg1647=)
c.5097C>A (p.Arg1699=)
c.5304C>A (p.Arg1768=)
c.4605C>A (p.Arg1535=)
c.5352C>A (p.Arg1784=)
 gnomAD v4
16g.3729690C>ACA394557060CREBBPc.5357G>T (p.Arg1786Leu)
c.5243G>T (p.Arg1748Leu)
c.5312G>T (p.Arg1771Leu)
c.4940G>T (p.Arg1647Leu)
c.5096G>T (p.Arg1699Leu)
c.5303G>T (p.Arg1768Leu)
c.4604G>T (p.Arg1535Leu)
c.5351G>T (p.Arg1784Leu)
 dbSNP
16g.3729690C=CA2202916491CREBBPc.5357G= (p.Arg1786=)
c.5243G= (p.Arg1748=)
c.5312G= (p.Arg1771=)
c.4940G= (p.Arg1647=)
c.5096G= (p.Arg1699=)
c.5303G= (p.Arg1768=)
c.4604G= (p.Arg1535=)
c.5351G= (p.Arg1784=)
16g.3729690C>GCA394557061CREBBPc.5357G>C (p.Arg1786Pro)
c.5243G>C (p.Arg1748Pro)
c.5312G>C (p.Arg1771Pro)
c.4940G>C (p.Arg1647Pro)
c.5096G>C (p.Arg1699Pro)
c.5303G>C (p.Arg1768Pro)
c.4604G>C (p.Arg1535Pro)
c.5351G>C (p.Arg1784Pro)
 ClinVar dbSNP
16g.3729690C>TCA276972266CREBBPc.5357G>A (p.Arg1786His)
c.5243G>A (p.Arg1748His)
c.5312G>A (p.Arg1771His)
c.4940G>A (p.Arg1647His)
c.5096G>A (p.Arg1699His)
c.5303G>A (p.Arg1768His)
c.4604G>A (p.Arg1535His)
c.5351G>A (p.Arg1784His)
 ClinVar dbSNP
16g.3729691G>ACA394557062CREBBPc.5356C>T (p.Arg1786Cys)
c.5242C>T (p.Arg1748Cys)
c.5311C>T (p.Arg1771Cys)
c.4939C>T (p.Arg1647Cys)
c.5095C>T (p.Arg1699Cys)
c.5302C>T (p.Arg1768Cys)
c.4603C>T (p.Arg1535Cys)
c.5350C>T (p.Arg1784Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729691G>CCA394557063CREBBPc.5356C>G (p.Arg1786Gly)
c.5242C>G (p.Arg1748Gly)
c.5311C>G (p.Arg1771Gly)
c.4939C>G (p.Arg1647Gly)
c.5095C>G (p.Arg1699Gly)
c.5302C>G (p.Arg1768Gly)
c.4603C>G (p.Arg1535Gly)
c.5350C>G (p.Arg1784Gly)
 ClinVar dbSNP
16g.3729691G=CA2202916492CREBBPc.5356C= (p.Arg1786=)
c.5242C= (p.Arg1748=)
c.5311C= (p.Arg1771=)
c.4939C= (p.Arg1647=)
c.5095C= (p.Arg1699=)
c.5302C= (p.Arg1768=)
c.4603C= (p.Arg1535=)
c.5350C= (p.Arg1784=)
16g.3729691G>TCA394557064CREBBPc.5356C>A (p.Arg1786Ser)
c.5242C>A (p.Arg1748Ser)
c.5311C>A (p.Arg1771Ser)
c.4939C>A (p.Arg1647Ser)
c.5095C>A (p.Arg1699Ser)
c.5302C>A (p.Arg1768Ser)
c.4603C>A (p.Arg1535Ser)
c.5350C>A (p.Arg1784Ser)
 dbSNP
16g.3729696_3729701dupCA658791853CREBBPc.5351_5356dup (p.Cys1785_Arg1786insGlnCys)
c.5237_5242dup (p.Cys1747_Arg1748insGlnCys)
c.5306_5311dup (p.Cys1770_Arg1771insGlnCys)
c.4934_4939dup (p.Cys1646_Arg1647insGlnCys)
c.5090_5095dup (p.Cys1698_Arg1699insGlnCys)
c.5297_5302dup (p.Cys1767_Arg1768insGlnCys)
c.4598_4603dup (p.Cys1534_Arg1535insGlnCys)
c.5345_5350dup (p.Cys1783_Arg1784insGlnCys)
16g.3729692G>ACA493394179CREBBPc.5355C>T (p.Cys1785=)
c.5241C>T (p.Cys1747=)
c.5310C>T (p.Cys1770=)
c.4938C>T (p.Cys1646=)
c.5094C>T (p.Cys1698=)
c.5301C>T (p.Cys1767=)
c.4602C>T (p.Cys1534=)
c.5349C>T (p.Cys1783=)
 dbSNP
16g.3729692G>CCA394557065CREBBPc.5355C>G (p.Cys1785Trp)
c.5241C>G (p.Cys1747Trp)
c.5310C>G (p.Cys1770Trp)
c.4938C>G (p.Cys1646Trp)
c.5094C>G (p.Cys1698Trp)
c.5301C>G (p.Cys1767Trp)
c.4602C>G (p.Cys1534Trp)
c.5349C>G (p.Cys1783Trp)
 dbSNP
16g.3729692G=CA2202916493CREBBPc.5355C= (p.Cys1785=)
c.5241C= (p.Cys1747=)
c.5310C= (p.Cys1770=)
c.4938C= (p.Cys1646=)
c.5094C= (p.Cys1698=)
c.5301C= (p.Cys1767=)
c.4602C= (p.Cys1534=)
c.5349C= (p.Cys1783=)
16g.3729692G>TCA394557066CREBBPc.5355C>A (p.Cys1785Ter)
c.5241C>A (p.Cys1747Ter)
c.5310C>A (p.Cys1770Ter)
c.4938C>A (p.Cys1646Ter)
c.5094C>A (p.Cys1698Ter)
c.5301C>A (p.Cys1767Ter)
c.4602C>A (p.Cys1534Ter)
c.5349C>A (p.Cys1783Ter)
16g.3729693C>ACA394557067CREBBPc.5354G>T (p.Cys1785Phe)
c.5240G>T (p.Cys1747Phe)
c.5309G>T (p.Cys1770Phe)
c.4937G>T (p.Cys1646Phe)
c.5093G>T (p.Cys1698Phe)
c.5300G>T (p.Cys1767Phe)
c.4601G>T (p.Cys1534Phe)
c.5348G>T (p.Cys1783Phe)
 dbSNP
16g.3729693C=CA2202916494CREBBPc.5354G= (p.Cys1785=)
c.5240G= (p.Cys1747=)
c.5309G= (p.Cys1770=)
c.4937G= (p.Cys1646=)
c.5093G= (p.Cys1698=)
c.5300G= (p.Cys1767=)
c.4601G= (p.Cys1534=)
c.5348G= (p.Cys1783=)
16g.3729693C>GCA394557068CREBBPc.5354G>C (p.Cys1785Ser)
c.5240G>C (p.Cys1747Ser)
c.5309G>C (p.Cys1770Ser)
c.4937G>C (p.Cys1646Ser)
c.5093G>C (p.Cys1698Ser)
c.5300G>C (p.Cys1767Ser)
c.4601G>C (p.Cys1534Ser)
c.5348G>C (p.Cys1783Ser)
 dbSNP
16g.3729693C>TCA394557069CREBBPc.5354G>A (p.Cys1785Tyr)
c.5240G>A (p.Cys1747Tyr)
c.5309G>A (p.Cys1770Tyr)
c.4937G>A (p.Cys1646Tyr)
c.5093G>A (p.Cys1698Tyr)
c.5300G>A (p.Cys1767Tyr)
c.4601G>A (p.Cys1534Tyr)
c.5348G>A (p.Cys1783Tyr)
 dbSNP gnomAD v2
16g.3729694A>CCA394557070CREBBPc.5353T>G (p.Cys1785Gly)
c.5239T>G (p.Cys1747Gly)
c.5308T>G (p.Cys1770Gly)
c.4936T>G (p.Cys1646Gly)
c.5092T>G (p.Cys1698Gly)
c.5299T>G (p.Cys1767Gly)
c.4600T>G (p.Cys1534Gly)
c.5347T>G (p.Cys1783Gly)
 dbSNP
16g.3729694A>GCA394557071CREBBPc.5353T>C (p.Cys1785Arg)
c.5239T>C (p.Cys1747Arg)
c.5308T>C (p.Cys1770Arg)
c.4936T>C (p.Cys1646Arg)
c.5092T>C (p.Cys1698Arg)
c.5299T>C (p.Cys1767Arg)
c.4600T>C (p.Cys1534Arg)
c.5347T>C (p.Cys1783Arg)
 dbSNP
16g.3729694A>TCA394557072CREBBPc.5353T>A (p.Cys1785Ser)
c.5239T>A (p.Cys1747Ser)
c.5308T>A (p.Cys1770Ser)
c.4936T>A (p.Cys1646Ser)
c.5092T>A (p.Cys1698Ser)
c.5299T>A (p.Cys1767Ser)
c.4600T>A (p.Cys1534Ser)
c.5347T>A (p.Cys1783Ser)
 dbSNP
16g.3729695C>ACA394557074CREBBPc.5352G>T (p.Gln1784His)
c.5238G>T (p.Gln1746His)
c.5307G>T (p.Gln1769His)
c.4935G>T (p.Gln1645His)
c.5091G>T (p.Gln1697His)
c.5298G>T (p.Gln1766His)
c.4599G>T (p.Gln1533His)
c.5346G>T (p.Gln1782His)
 ClinVar
16g.3729695C=CA2202916495CREBBPc.5352G= (p.Gln1784=)
c.5238G= (p.Gln1746=)
c.5307G= (p.Gln1769=)
c.4935G= (p.Gln1645=)
c.5091G= (p.Gln1697=)
c.5298G= (p.Gln1766=)
c.4599G= (p.Gln1533=)
c.5346G= (p.Gln1782=)
16g.3729695C>GCA394557073CREBBPc.5352G>C (p.Gln1784His)
c.5238G>C (p.Gln1746His)
c.5307G>C (p.Gln1769His)
c.4935G>C (p.Gln1645His)
c.5091G>C (p.Gln1697His)
c.5298G>C (p.Gln1766His)
c.4599G>C (p.Gln1533His)
c.5346G>C (p.Gln1782His)
 dbSNP
16g.3729695C>TCA7869288CREBBPc.5352G>A (p.Gln1784=)
c.5238G>A (p.Gln1746=)
c.5307G>A (p.Gln1769=)
c.4935G>A (p.Gln1645=)
c.5091G>A (p.Gln1697=)
c.5298G>A (p.Gln1766=)
c.4599G>A (p.Gln1533=)
c.5346G>A (p.Gln1782=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729696T>ACA394557076CREBBPc.5351A>T (p.Gln1784Leu)
c.5237A>T (p.Gln1746Leu)
c.5306A>T (p.Gln1769Leu)
c.4934A>T (p.Gln1645Leu)
c.5090A>T (p.Gln1697Leu)
c.5297A>T (p.Gln1766Leu)
c.4598A>T (p.Gln1533Leu)
c.5345A>T (p.Gln1782Leu)
16g.3729696T>CCA394557075CREBBPc.5351A>G (p.Gln1784Arg)
c.5237A>G (p.Gln1746Arg)
c.5306A>G (p.Gln1769Arg)
c.4934A>G (p.Gln1645Arg)
c.5090A>G (p.Gln1697Arg)
c.5297A>G (p.Gln1766Arg)
c.4598A>G (p.Gln1533Arg)
c.5345A>G (p.Gln1782Arg)
16g.3729696T>GCA394557077CREBBPc.5351A>C (p.Gln1784Pro)
c.5237A>C (p.Gln1746Pro)
c.5306A>C (p.Gln1769Pro)
c.4934A>C (p.Gln1645Pro)
c.5090A>C (p.Gln1697Pro)
c.5297A>C (p.Gln1766Pro)
c.4598A>C (p.Gln1533Pro)
c.5345A>C (p.Gln1782Pro)
16g.3729697G>ACA394557078CREBBPc.5350C>T (p.Gln1784Ter)
c.5236C>T (p.Gln1746Ter)
c.5305C>T (p.Gln1769Ter)
c.4933C>T (p.Gln1645Ter)
c.5089C>T (p.Gln1697Ter)
c.5296C>T (p.Gln1766Ter)
c.4597C>T (p.Gln1533Ter)
c.5344C>T (p.Gln1782Ter)
 dbSNP
16g.3729697G>CCA394557079CREBBPc.5350C>G (p.Gln1784Glu)
c.5236C>G (p.Gln1746Glu)
c.5305C>G (p.Gln1769Glu)
c.4933C>G (p.Gln1645Glu)
c.5089C>G (p.Gln1697Glu)
c.5296C>G (p.Gln1766Glu)
c.4597C>G (p.Gln1533Glu)
c.5344C>G (p.Gln1782Glu)
 dbSNP
16g.3729697G>TCA394557080CREBBPc.5350C>A (p.Gln1784Lys)
c.5236C>A (p.Gln1746Lys)
c.5305C>A (p.Gln1769Lys)
c.4933C>A (p.Gln1645Lys)
c.5089C>A (p.Gln1697Lys)
c.5296C>A (p.Gln1766Lys)
c.4597C>A (p.Gln1533Lys)
c.5344C>A (p.Gln1782Lys)
16g.3729698G>ACA493394183CREBBPc.5349C>T (p.Cys1783=)
c.5235C>T (p.Cys1745=)
c.5304C>T (p.Cys1768=)
c.4932C>T (p.Cys1644=)
c.5088C>T (p.Cys1696=)
c.5295C>T (p.Cys1765=)
c.4596C>T (p.Cys1532=)
c.5343C>T (p.Cys1781=)
 dbSNP
16g.3729698G>CCA394557081CREBBPc.5349C>G (p.Cys1783Trp)
c.5235C>G (p.Cys1745Trp)
c.5304C>G (p.Cys1768Trp)
c.4932C>G (p.Cys1644Trp)
c.5088C>G (p.Cys1696Trp)
c.5295C>G (p.Cys1765Trp)
c.4596C>G (p.Cys1532Trp)
c.5343C>G (p.Cys1781Trp)
 dbSNP
16g.3729698G>TCA394557082CREBBPc.5349C>A (p.Cys1783Ter)
c.5235C>A (p.Cys1745Ter)
c.5304C>A (p.Cys1768Ter)
c.4932C>A (p.Cys1644Ter)
c.5088C>A (p.Cys1696Ter)
c.5295C>A (p.Cys1765Ter)
c.4596C>A (p.Cys1532Ter)
c.5343C>A (p.Cys1781Ter)
16g.3729699C>ACA394557083CREBBPc.5348G>T (p.Cys1783Phe)
c.5234G>T (p.Cys1745Phe)
c.5303G>T (p.Cys1768Phe)
c.4931G>T (p.Cys1644Phe)
c.5087G>T (p.Cys1696Phe)
c.5294G>T (p.Cys1765Phe)
c.4595G>T (p.Cys1532Phe)
c.5342G>T (p.Cys1781Phe)
 ClinVar dbSNP
16g.3729699C>GCA394557084CREBBPc.5348G>C (p.Cys1783Ser)
c.5234G>C (p.Cys1745Ser)
c.5303G>C (p.Cys1768Ser)
c.4931G>C (p.Cys1644Ser)
c.5087G>C (p.Cys1696Ser)
c.5294G>C (p.Cys1765Ser)
c.4595G>C (p.Cys1532Ser)
c.5342G>C (p.Cys1781Ser)
16g.3729699C>TCA394557085CREBBPc.5348G>A (p.Cys1783Tyr)
c.5234G>A (p.Cys1745Tyr)
c.5303G>A (p.Cys1768Tyr)
c.4931G>A (p.Cys1644Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5294G>A (p.Cys1765Tyr)
c.4595G>A (p.Cys1532Tyr)
c.5342G>A (p.Cys1781Tyr)
16g.3729700A>CCA394557086CREBBPc.5347T>G (p.Cys1783Gly)
c.5233T>G (p.Cys1745Gly)
c.5302T>G (p.Cys1768Gly)
c.4930T>G (p.Cys1644Gly)
c.5086T>G (p.Cys1696Gly)
c.5293T>G (p.Cys1765Gly)
c.4594T>G (p.Cys1532Gly)
c.5341T>G (p.Cys1781Gly)
 dbSNP
16g.3729700A>GCA394557087CREBBPc.5347T>C (p.Cys1783Arg)
c.5233T>C (p.Cys1745Arg)
c.5302T>C (p.Cys1768Arg)
c.4930T>C (p.Cys1644Arg)
c.5086T>C (p.Cys1696Arg)
c.5293T>C (p.Cys1765Arg)
c.4594T>C (p.Cys1532Arg)
c.5341T>C (p.Cys1781Arg)
 dbSNP
16g.3729700A>TCA394557088CREBBPc.5347T>A (p.Cys1783Ser)
c.5233T>A (p.Cys1745Ser)
c.5302T>A (p.Cys1768Ser)
c.4930T>A (p.Cys1644Ser)
c.5086T>A (p.Cys1696Ser)
c.5293T>A (p.Cys1765Ser)
c.4594T>A (p.Cys1532Ser)
c.5341T>A (p.Cys1781Ser)
 dbSNP
16g.3729701C>ACA276972275CREBBPc.5346G>T (p.Ala1782=)
c.5232G>T (p.Ala1744=)
c.5301G>T (p.Ala1767=)
c.4929G>T (p.Ala1643=)
c.5085G>T (p.Ala1695=)
c.5292G>T (p.Ala1764=)
c.4593G>T (p.Ala1531=)
c.5340G>T (p.Ala1780=)
 dbSNP gnomAD v4
16g.3729701C=CA2202916496CREBBPc.5346G= (p.Ala1782=)
c.5232G= (p.Ala1744=)
c.5301G= (p.Ala1767=)
c.4929G= (p.Ala1643=)
c.5085G= (p.Ala1695=)
c.5292G= (p.Ala1764=)
c.4593G= (p.Ala1531=)
c.5340G= (p.Ala1780=)
16g.3729701C>GCA7869290CREBBPc.5346G>C (p.Ala1782=)
c.5232G>C (p.Ala1744=)
c.5301G>C (p.Ala1767=)
c.4929G>C (p.Ala1643=)
c.5085G>C (p.Ala1695=)
c.5292G>C (p.Ala1764=)
c.4593G>C (p.Ala1531=)
c.5340G>C (p.Ala1780=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729701C>TCA7869289CREBBPc.5346G>A (p.Ala1782=)
c.5232G>A (p.Ala1744=)
c.5301G>A (p.Ala1767=)
c.4929G>A (p.Ala1643=)
c.5085G>A (p.Ala1695=)
c.5292G>A (p.Ala1764=)
c.4593G>A (p.Ala1531=)
c.5340G>A (p.Ala1780=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729702G>ACA394557089CREBBPc.5345C>T (p.Ala1782Val)
c.5231C>T (p.Ala1744Val)
c.5300C>T (p.Ala1767Val)
c.4928C>T (p.Ala1643Val)
c.5084C>T (p.Ala1695Val)
c.5291C>T (p.Ala1764Val)
c.4592C>T (p.Ala1531Val)
c.5339C>T (p.Ala1780Val)
 ClinVar dbSNP gnomAD v4
16g.3729702G>CCA394557090CREBBPc.5345C>G (p.Ala1782Gly)
c.5231C>G (p.Ala1744Gly)
c.5300C>G (p.Ala1767Gly)
c.4928C>G (p.Ala1643Gly)
c.5084C>G (p.Ala1695Gly)
c.5291C>G (p.Ala1764Gly)
c.4592C>G (p.Ala1531Gly)
c.5339C>G (p.Ala1780Gly)
 dbSNP
16g.3729702G=CA2202916497CREBBPc.5345C= (p.Ala1782=)
c.5231C= (p.Ala1744=)
c.5300C= (p.Ala1767=)
c.4928C= (p.Ala1643=)
c.5084C= (p.Ala1695=)
c.5291C= (p.Ala1764=)
c.4592C= (p.Ala1531=)
c.5339C= (p.Ala1780=)
16g.3729702G>TCA394557091CREBBPc.5345C>A (p.Ala1782Glu)
c.5231C>A (p.Ala1744Glu)
c.5300C>A (p.Ala1767Glu)
c.4928C>A (p.Ala1643Glu)
c.5084C>A (p.Ala1695Glu)
c.5291C>A (p.Ala1764Glu)
c.4592C>A (p.Ala1531Glu)
c.5339C>A (p.Ala1780Glu)
 dbSNP
16g.3729703C>ACA394557092CREBBPc.5344G>T (p.Ala1782Ser)
c.5230G>T (p.Ala1744Ser)
c.5299G>T (p.Ala1767Ser)
c.4927G>T (p.Ala1643Ser)
c.5083G>T (p.Ala1695Ser)
c.5290G>T (p.Ala1764Ser)
c.4591G>T (p.Ala1531Ser)
c.5338G>T (p.Ala1780Ser)
 dbSNP gnomAD v4
16g.3729703C=CA2202916498CREBBPc.5344G= (p.Ala1782=)
c.5230G= (p.Ala1744=)
c.5299G= (p.Ala1767=)
c.4927G= (p.Ala1643=)
c.5083G= (p.Ala1695=)
c.5290G= (p.Ala1764=)
c.4591G= (p.Ala1531=)
c.5338G= (p.Ala1780=)
16g.3729703C>GCA394557093CREBBPc.5344G>C (p.Ala1782Pro)
c.5230G>C (p.Ala1744Pro)
c.5299G>C (p.Ala1767Pro)
c.4927G>C (p.Ala1643Pro)
c.5083G>C (p.Ala1695Pro)
c.5290G>C (p.Ala1764Pro)
c.4591G>C (p.Ala1531Pro)
c.5338G>C (p.Ala1780Pro)
 dbSNP
16g.3729703C>TCA394557094CREBBPc.5344G>A (p.Ala1782Thr)
c.5230G>A (p.Ala1744Thr)
c.5299G>A (p.Ala1767Thr)
c.4927G>A (p.Ala1643Thr)
c.5083G>A (p.Ala1695Thr)
c.5290G>A (p.Ala1764Thr)
c.4591G>A (p.Ala1531Thr)
c.5338G>A (p.Ala1780Thr)
 ClinVar dbSNP COSMIC
16g.3729704G>ACA7869291CREBBPc.5343C>T (p.His1781=)
c.5229C>T (p.His1743=)
c.5298C>T (p.His1766=)
c.4926C>T (p.His1642=)
c.5082C>T (p.His1694=)
c.5289C>T (p.His1763=)
c.4590C>T (p.His1530=)
c.5337C>T (p.His1779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729704G>CCA394557098CREBBPc.5343C>G (p.His1781Gln)
c.5229C>G (p.His1743Gln)
c.5298C>G (p.His1766Gln)
c.4926C>G (p.His1642Gln)
c.5082C>G (p.His1694Gln)
c.5289C>G (p.His1763Gln)
c.4590C>G (p.His1530Gln)
c.5337C>G (p.His1779Gln)
 dbSNP
16g.3729704G=CA2202916499CREBBPc.5343C= (p.His1781=)
c.5229C= (p.His1743=)
c.5298C= (p.His1766=)
c.4926C= (p.His1642=)
c.5082C= (p.His1694=)
c.5289C= (p.His1763=)
c.4590C= (p.His1530=)
c.5337C= (p.His1779=)
16g.3729704G>TCA394557099CREBBPc.5343C>A (p.His1781Gln)
c.5229C>A (p.His1743Gln)
c.5298C>A (p.His1766Gln)
c.4926C>A (p.His1642Gln)
c.5082C>A (p.His1694Gln)
c.5289C>A (p.His1763Gln)
c.4590C>A (p.His1530Gln)
c.5337C>A (p.His1779Gln)
16g.3729705T>ACA394557102CREBBPc.5342A>T (p.His1781Leu)
c.5228A>T (p.His1743Leu)
c.5297A>T (p.His1766Leu)
c.4925A>T (p.His1642Leu)
c.5081A>T (p.His1694Leu)
c.5288A>T (p.His1763Leu)
c.4589A>T (p.His1530Leu)
c.5336A>T (p.His1779Leu)
 dbSNP
16g.3729705T>CCA394557103CREBBPc.5342A>G (p.His1781Arg)
c.5228A>G (p.His1743Arg)
c.5297A>G (p.His1766Arg)
c.4925A>G (p.His1642Arg)
c.5081A>G (p.His1694Arg)
c.5288A>G (p.His1763Arg)
c.4589A>G (p.His1530Arg)
c.5336A>G (p.His1779Arg)
 dbSNP
16g.3729705T>GCA394557105CREBBPc.5342A>C (p.His1781Pro)
c.5228A>C (p.His1743Pro)
c.5297A>C (p.His1766Pro)
c.4925A>C (p.His1642Pro)
c.5081A>C (p.His1694Pro)
c.5288A>C (p.His1763Pro)
c.4589A>C (p.His1530Pro)
c.5336A>C (p.His1779Pro)
 dbSNP
16g.3729706G>ACA394557110CREBBPc.5341C>T (p.His1781Tyr)
c.5227C>T (p.His1743Tyr)
c.5296C>T (p.His1766Tyr)
c.4924C>T (p.His1642Tyr)
c.5080C>T (p.His1694Tyr)
c.5287C>T (p.His1763Tyr)
c.4588C>T (p.His1530Tyr)
c.5335C>T (p.His1779Tyr)
 dbSNP gnomAD v4
16g.3729706G>CCA394557111CREBBPc.5341C>G (p.His1781Asp)
c.5227C>G (p.His1743Asp)
c.5296C>G (p.His1766Asp)
c.4924C>G (p.His1642Asp)
c.5080C>G (p.His1694Asp)
c.5287C>G (p.His1763Asp)
c.4588C>G (p.His1530Asp)
c.5335C>G (p.His1779Asp)
 dbSNP
16g.3729706G>TCA394557108CREBBPc.5341C>A (p.His1781Asn)
c.5227C>A (p.His1743Asn)
c.5296C>A (p.His1766Asn)
c.4924C>A (p.His1642Asn)
c.5080C>A (p.His1694Asn)
c.5287C>A (p.His1763Asn)
c.4588C>A (p.His1530Asn)
c.5335C>A (p.His1779Asn)
16g.3729707C>ACA493394191CREBBPc.5340G>T (p.Val1780=)
c.5226G>T (p.Val1742=)
c.5295G>T (p.Val1765=)
c.4923G>T (p.Val1641=)
c.5079G>T (p.Val1693=)
c.5286G>T (p.Val1762=)
c.4587G>T (p.Val1529=)
c.5334G>T (p.Val1778=)
16g.3729707C=CA2202916500CREBBPc.5340G= (p.Val1780=)
c.5226G= (p.Val1742=)
c.5295G= (p.Val1765=)
c.4923G= (p.Val1641=)
c.5079G= (p.Val1693=)
c.5286G= (p.Val1762=)
c.4587G= (p.Val1529=)
c.5334G= (p.Val1778=)
16g.3729707C>GCA493394192CREBBPc.5340G>C (p.Val1780=)
c.5226G>C (p.Val1742=)
c.5295G>C (p.Val1765=)
c.4923G>C (p.Val1641=)
c.5079G>C (p.Val1693=)
c.5286G>C (p.Val1762=)
c.4587G>C (p.Val1529=)
c.5334G>C (p.Val1778=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729707C>TCA493394193CREBBPc.5340G>A (p.Val1780=)
c.5226G>A (p.Val1742=)
c.5295G>A (p.Val1765=)
c.4923G>A (p.Val1641=)
c.5079G>A (p.Val1693=)
c.5286G>A (p.Val1762=)
c.4587G>A (p.Val1529=)
c.5334G>A (p.Val1778=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729708A=CA2202916501CREBBPc.5339T= (p.Val1780=)
c.5225T= (p.Val1742=)
c.5294T= (p.Val1765=)
c.4922T= (p.Val1641=)
c.5078T= (p.Val1693=)
c.5285T= (p.Val1762=)
c.4586T= (p.Val1529=)
c.5333T= (p.Val1778=)
16g.3729708A>CCA394557114CREBBPc.5339T>G (p.Val1780Gly)
c.5225T>G (p.Val1742Gly)
c.5294T>G (p.Val1765Gly)
c.4922T>G (p.Val1641Gly)
c.5078T>G (p.Val1693Gly)
c.5285T>G (p.Val1762Gly)
c.4586T>G (p.Val1529Gly)
c.5333T>G (p.Val1778Gly)
 dbSNP
16g.3729708A>GCA394557116CREBBPc.5339T>C (p.Val1780Ala)
c.5225T>C (p.Val1742Ala)
c.5294T>C (p.Val1765Ala)
c.4922T>C (p.Val1641Ala)
c.5078T>C (p.Val1693Ala)
c.5285T>C (p.Val1762Ala)
c.4586T>C (p.Val1529Ala)
c.5333T>C (p.Val1778Ala)
 gnomAD v4
16g.3729708A>TCA394557117CREBBPc.5339T>A (p.Val1780Glu)
c.5225T>A (p.Val1742Glu)
c.5294T>A (p.Val1765Glu)
c.4922T>A (p.Val1641Glu)
c.5078T>A (p.Val1693Glu)
c.5285T>A (p.Val1762Glu)
c.4586T>A (p.Val1529Glu)
c.5333T>A (p.Val1778Glu)
16g.3729709C>ACA394557120CREBBPc.5338G>T (p.Val1780Leu)
c.5224G>T (p.Val1742Leu)
c.5293G>T (p.Val1765Leu)
c.4921G>T (p.Val1641Leu)
c.5077G>T (p.Val1693Leu)
c.5284G>T (p.Val1762Leu)
c.4585G>T (p.Val1529Leu)
c.5332G>T (p.Val1778Leu)
16g.3729709C>GCA394557121CREBBPc.5338G>C (p.Val1780Leu)
c.5224G>C (p.Val1742Leu)
c.5293G>C (p.Val1765Leu)
c.4921G>C (p.Val1641Leu)
c.5077G>C (p.Val1693Leu)
c.5284G>C (p.Val1762Leu)
c.4585G>C (p.Val1529Leu)
c.5332G>C (p.Val1778Leu)
16g.3729709C>TCA394557122CREBBPc.5338G>A (p.Val1780Met)
c.5224G>A (p.Val1742Met)
c.5293G>A (p.Val1765Met)
c.4921G>A (p.Val1641Met)
c.5077G>A (p.Val1693Met)
c.5284G>A (p.Val1762Met)
c.4585G>A (p.Val1529Met)
c.5332G>A (p.Val1778Met)
16g.3729710C>ACA493394196CREBBPc.5337G>T (p.Leu1779=)
c.5223G>T (p.Leu1741=)
c.5292G>T (p.Leu1764=)
c.4920G>T (p.Leu1640=)
c.5076G>T (p.Leu1692=)
c.5283G>T (p.Leu1761=)
c.4584G>T (p.Leu1528=)
c.5331G>T (p.Leu1777=)
16g.3729710C=CA2202916502CREBBPc.5337G= (p.Leu1779=)
c.5223G= (p.Leu1741=)
c.5292G= (p.Leu1764=)
c.4920G= (p.Leu1640=)
c.5076G= (p.Leu1692=)
c.5283G= (p.Leu1761=)
c.4584G= (p.Leu1528=)
c.5331G= (p.Leu1777=)
16g.3729710C>GCA493394197CREBBPc.5337G>C (p.Leu1779=)
c.5223G>C (p.Leu1741=)
c.5292G>C (p.Leu1764=)
c.4920G>C (p.Leu1640=)
c.5076G>C (p.Leu1692=)
c.5283G>C (p.Leu1761=)
c.4584G>C (p.Leu1528=)
c.5331G>C (p.Leu1777=)
16g.3729710C>TCA493394198CREBBPc.5337G>A (p.Leu1779=)
c.5223G>A (p.Leu1741=)
c.5292G>A (p.Leu1764=)
c.4920G>A (p.Leu1640=)
c.5076G>A (p.Leu1692=)
c.5283G>A (p.Leu1761=)
c.4584G>A (p.Leu1528=)
c.5331G>A (p.Leu1777=)
 dbSNP gnomAD v2
16g.3729711A=CA2202916503CREBBPc.5336T= (p.Leu1779=)
c.5222T= (p.Leu1741=)
c.5291T= (p.Leu1764=)
c.4919T= (p.Leu1640=)
c.5075T= (p.Leu1692=)
c.5282T= (p.Leu1761=)
c.4583T= (p.Leu1528=)
c.5330T= (p.Leu1777=)
16g.3729711A>CCA394557124CREBBPc.5336T>G (p.Leu1779Arg)
c.5222T>G (p.Leu1741Arg)
c.5291T>G (p.Leu1764Arg)
c.4919T>G (p.Leu1640Arg)
c.5075T>G (p.Leu1692Arg)
c.5282T>G (p.Leu1761Arg)
c.4583T>G (p.Leu1528Arg)
c.5330T>G (p.Leu1777Arg)
16g.3729711A>GCA16620201CREBBPc.5336T>C (p.Leu1779Pro)
c.5222T>C (p.Leu1741Pro)
c.5291T>C (p.Leu1764Pro)
c.4919T>C (p.Leu1640Pro)
c.5075T>C (p.Leu1692Pro)
c.5282T>C (p.Leu1761Pro)
c.4583T>C (p.Leu1528Pro)
c.5330T>C (p.Leu1777Pro)
 ClinVar dbSNP
16g.3729711A>TCA394557127CREBBPc.5336T>A (p.Leu1779Gln)
c.5222T>A (p.Leu1741Gln)
c.5291T>A (p.Leu1764Gln)
c.4919T>A (p.Leu1640Gln)
c.5075T>A (p.Leu1692Gln)
c.5282T>A (p.Leu1761Gln)
c.4583T>A (p.Leu1528Gln)
c.5330T>A (p.Leu1777Gln)
 dbSNP
16g.3729712G>ACA493394199CREBBPc.5335C>T (p.Leu1779=)
c.5221C>T (p.Leu1741=)
c.5290C>T (p.Leu1764=)
c.4918C>T (p.Leu1640=)
c.5074C>T (p.Leu1692=)
c.5281C>T (p.Leu1761=)
c.4582C>T (p.Leu1528=)
c.5329C>T (p.Leu1777=)
 dbSNP
16g.3729712G>CCA394557129CREBBPc.5335C>G (p.Leu1779Val)
c.5221C>G (p.Leu1741Val)
c.5290C>G (p.Leu1764Val)
c.4918C>G (p.Leu1640Val)
c.5074C>G (p.Leu1692Val)
c.5281C>G (p.Leu1761Val)
c.4582C>G (p.Leu1528Val)
c.5329C>G (p.Leu1777Val)
 dbSNP
16g.3729712G>TCA394557130CREBBPc.5335C>A (p.Leu1779Met)
c.5221C>A (p.Leu1741Met)
c.5290C>A (p.Leu1764Met)
c.4918C>A (p.Leu1640Met)
c.5074C>A (p.Leu1692Met)
c.5281C>A (p.Leu1761Met)
c.4582C>A (p.Leu1528Met)
c.5329C>A (p.Leu1777Met)
16g.3729713C>ACA493394200CREBBPc.5334G>T (p.Ser1778=)
c.5220G>T (p.Ser1740=)
c.5289G>T (p.Ser1763=)
c.4917G>T (p.Ser1639=)
c.5073G>T (p.Ser1691=)
c.5280G>T (p.Ser1760=)
c.4581G>T (p.Ser1527=)
c.5328G>T (p.Ser1776=)
 ClinVar dbSNP gnomAD v4
16g.3729713C=CA2202916504CREBBPc.5334G= (p.Ser1778=)
c.5220G= (p.Ser1740=)
c.5289G= (p.Ser1763=)
c.4917G= (p.Ser1639=)
c.5073G= (p.Ser1691=)
c.5280G= (p.Ser1760=)
c.4581G= (p.Ser1527=)
c.5328G= (p.Ser1776=)
16g.3729713C>GCA493394201CREBBPc.5334G>C (p.Ser1778=)
c.5220G>C (p.Ser1740=)
c.5289G>C (p.Ser1763=)
c.4917G>C (p.Ser1639=)
c.5073G>C (p.Ser1691=)
c.5280G>C (p.Ser1760=)
c.4581G>C (p.Ser1527=)
c.5328G>C (p.Ser1776=)
 dbSNP
16g.3729713C>TCA7869292CREBBPc.5334G>A (p.Ser1778=)
c.5220G>A (p.Ser1740=)
c.5289G>A (p.Ser1763=)
c.4917G>A (p.Ser1639=)
c.5073G>A (p.Ser1691=)
c.5280G>A (p.Ser1760=)
c.4581G>A (p.Ser1527=)
c.5328G>A (p.Ser1776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729714G>ACA394557134CREBBPc.5333C>T (p.Ser1778Leu)
c.5219C>T (p.Ser1740Leu)
c.5288C>T (p.Ser1763Leu)
c.4916C>T (p.Ser1639Leu)
c.5072C>T (p.Ser1691Leu)
c.5279C>T (p.Ser1760Leu)
c.4580C>T (p.Ser1527Leu)
c.5327C>T (p.Ser1776Leu)
 ClinVar dbSNP gnomAD v2 COSMIC
16g.3729714G>CCA394557136CREBBPc.5333C>G (p.Ser1778Trp)
c.5219C>G (p.Ser1740Trp)
c.5288C>G (p.Ser1763Trp)
c.4916C>G (p.Ser1639Trp)
c.5072C>G (p.Ser1691Trp)
c.5279C>G (p.Ser1760Trp)
c.4580C>G (p.Ser1527Trp)
c.5327C>G (p.Ser1776Trp)
 dbSNP
16g.3729714G=CA2202916505CREBBPc.5333C= (p.Ser1778=)
c.5219C= (p.Ser1740=)
c.5288C= (p.Ser1763=)
c.4916C= (p.Ser1639=)
c.5072C= (p.Ser1691=)
c.5279C= (p.Ser1760=)
c.4580C= (p.Ser1527=)
c.5327C= (p.Ser1776=)
16g.3729714G>TCA394557132CREBBPc.5333C>A (p.Ser1778Ter)
c.5219C>A (p.Ser1740Ter)
c.5288C>A (p.Ser1763Ter)
c.4916C>A (p.Ser1639Ter)
c.5072C>A (p.Ser1691Ter)
c.5279C>A (p.Ser1760Ter)
c.4580C>A (p.Ser1527Ter)
c.5327C>A (p.Ser1776Ter)
 dbSNP
16g.3729715A>CCA394557137CREBBPc.5332T>G (p.Ser1778Ala)
c.5218T>G (p.Ser1740Ala)
c.5287T>G (p.Ser1763Ala)
c.4915T>G (p.Ser1639Ala)
c.5071T>G (p.Ser1691Ala)
c.5278T>G (p.Ser1760Ala)
c.4579T>G (p.Ser1527Ala)
c.5326T>G (p.Ser1776Ala)
16g.3729715A>GCA394557138CREBBPc.5332T>C (p.Ser1778Pro)
c.5218T>C (p.Ser1740Pro)
c.5287T>C (p.Ser1763Pro)
c.4915T>C (p.Ser1639Pro)
c.5071T>C (p.Ser1691Pro)
c.5278T>C (p.Ser1760Pro)
c.4579T>C (p.Ser1527Pro)
c.5326T>C (p.Ser1776Pro)
16g.3729715A>TCA394557140CREBBPc.5332T>A (p.Ser1778Thr)
c.5218T>A (p.Ser1740Thr)
c.5287T>A (p.Ser1763Thr)
c.4915T>A (p.Ser1639Thr)
c.5071T>A (p.Ser1691Thr)
c.5278T>A (p.Ser1760Thr)
c.4579T>A (p.Ser1527Thr)
c.5326T>A (p.Ser1776Thr)
16g.3729716C>ACA7869293CREBBPc.5331G>T (p.Gln1777His)
c.5217G>T (p.Gln1739His)
c.5286G>T (p.Gln1762His)
c.4914G>T (p.Gln1638His)
c.5070G>T (p.Gln1690His)
c.5277G>T (p.Gln1759His)
c.4578G>T (p.Gln1526His)
c.5325G>T (p.Gln1775His)
 dbSNP ExAC gnomAD v2
16g.3729716C=CA2202916506CREBBPc.5331G= (p.Gln1777=)
c.5217G= (p.Gln1739=)
c.5286G= (p.Gln1762=)
c.4914G= (p.Gln1638=)
c.5070G= (p.Gln1690=)
c.5277G= (p.Gln1759=)
c.4578G= (p.Gln1526=)
c.5325G= (p.Gln1775=)
16g.3729716C>GCA394557142CREBBPc.5331G>C (p.Gln1777His)
c.5217G>C (p.Gln1739His)
c.5286G>C (p.Gln1762His)
c.4914G>C (p.Gln1638His)
c.5070G>C (p.Gln1690His)
c.5277G>C (p.Gln1759His)
c.4578G>C (p.Gln1526His)
c.5325G>C (p.Gln1775His)
 dbSNP
16g.3729716C>TCA493394202CREBBPc.5331G>A (p.Gln1777=)
c.5217G>A (p.Gln1739=)
c.5286G>A (p.Gln1762=)
c.4914G>A (p.Gln1638=)
c.5070G>A (p.Gln1690=)
c.5277G>A (p.Gln1759=)
c.4578G>A (p.Gln1526=)
c.5325G>A (p.Gln1775=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729717T>ACA394557147CREBBPc.5330A>T (p.Gln1777Leu)
c.5216A>T (p.Gln1739Leu)
c.5285A>T (p.Gln1762Leu)
c.4913A>T (p.Gln1638Leu)
c.5069A>T (p.Gln1690Leu)
c.5276A>T (p.Gln1759Leu)
c.4577A>T (p.Gln1526Leu)
c.5324A>T (p.Gln1775Leu)
16g.3729717T>CCA394557146CREBBPc.5330A>G (p.Gln1777Arg)
c.5216A>G (p.Gln1739Arg)
c.5285A>G (p.Gln1762Arg)
c.4913A>G (p.Gln1638Arg)
c.5069A>G (p.Gln1690Arg)
c.5276A>G (p.Gln1759Arg)
c.4577A>G (p.Gln1526Arg)
c.5324A>G (p.Gln1775Arg)
16g.3729717T>GCA394557144CREBBPc.5330A>C (p.Gln1777Pro)
c.5216A>C (p.Gln1739Pro)
c.5285A>C (p.Gln1762Pro)
c.4913A>C (p.Gln1638Pro)
c.5069A>C (p.Gln1690Pro)
c.5276A>C (p.Gln1759Pro)
c.4577A>C (p.Gln1526Pro)
c.5324A>C (p.Gln1775Pro)
16g.3729718G>ACA394557149CREBBPc.5329C>T (p.Gln1777Ter)
c.5215C>T (p.Gln1739Ter)
c.5284C>T (p.Gln1762Ter)
c.4912C>T (p.Gln1638Ter)
c.5068C>T (p.Gln1690Ter)
c.5275C>T (p.Gln1759Ter)
c.4576C>T (p.Gln1526Ter)
c.5323C>T (p.Gln1775Ter)
 dbSNP
16g.3729718G>CCA394557151CREBBPc.5329C>G (p.Gln1777Glu)
c.5215C>G (p.Gln1739Glu)
c.5284C>G (p.Gln1762Glu)
c.4912C>G (p.Gln1638Glu)
c.5068C>G (p.Gln1690Glu)
c.5275C>G (p.Gln1759Glu)
c.4576C>G (p.Gln1526Glu)
c.5323C>G (p.Gln1775Glu)
 dbSNP
16g.3729718G>TCA394557153CREBBPc.5329C>A (p.Gln1777Lys)
c.5215C>A (p.Gln1739Lys)
c.5284C>A (p.Gln1762Lys)
c.4912C>A (p.Gln1638Lys)
c.5068C>A (p.Gln1690Lys)
c.5275C>A (p.Gln1759Lys)
c.4576C>A (p.Gln1526Lys)
c.5323C>A (p.Gln1775Lys)
16g.3729719G>ACA493394203CREBBPc.5328C>T (p.Ile1776=)
c.5214C>T (p.Ile1738=)
c.5283C>T (p.Ile1761=)
c.4911C>T (p.Ile1637=)
c.5067C>T (p.Ile1689=)
c.5274C>T (p.Ile1758=)
c.4575C>T (p.Ile1525=)
c.5322C>T (p.Ile1774=)
 dbSNP
16g.3729719G>CCA394557155CREBBPc.5328C>G (p.Ile1776Met)
c.5214C>G (p.Ile1738Met)
c.5283C>G (p.Ile1761Met)
c.4911C>G (p.Ile1637Met)
c.5067C>G (p.Ile1689Met)
c.5274C>G (p.Ile1758Met)
c.4575C>G (p.Ile1525Met)
c.5322C>G (p.Ile1774Met)
 dbSNP
16g.3729719G=CA2202916507CREBBPc.5328C= (p.Ile1776=)
c.5214C= (p.Ile1738=)
c.5283C= (p.Ile1761=)
c.4911C= (p.Ile1637=)
c.5067C= (p.Ile1689=)
c.5274C= (p.Ile1758=)
c.4575C= (p.Ile1525=)
c.5322C= (p.Ile1774=)
16g.3729719G>TCA493394206CREBBPc.5328C>A (p.Ile1776=)
c.5214C>A (p.Ile1738=)
c.5283C>A (p.Ile1761=)
c.4911C>A (p.Ile1637=)
c.5067C>A (p.Ile1689=)
c.5274C>A (p.Ile1758=)
c.4575C>A (p.Ile1525=)
c.5322C>A (p.Ile1774=)
16g.3729720A>CCA394557157CREBBPc.5327T>G (p.Ile1776Ser)
c.5213T>G (p.Ile1738Ser)
c.5282T>G (p.Ile1761Ser)
c.4910T>G (p.Ile1637Ser)
c.5066T>G (p.Ile1689Ser)
c.5273T>G (p.Ile1758Ser)
c.4574T>G (p.Ile1525Ser)
c.5321T>G (p.Ile1774Ser)
16g.3729720A>GCA394557159CREBBPc.5327T>C (p.Ile1776Thr)
c.5213T>C (p.Ile1738Thr)
c.5282T>C (p.Ile1761Thr)
c.4910T>C (p.Ile1637Thr)
c.5066T>C (p.Ile1689Thr)
c.5273T>C (p.Ile1758Thr)
c.4574T>C (p.Ile1525Thr)
c.5321T>C (p.Ile1774Thr)
 dbSNP
16g.3729720A>TCA394557160CREBBPc.5327T>A (p.Ile1776Asn)
c.5213T>A (p.Ile1738Asn)
c.5282T>A (p.Ile1761Asn)
c.4910T>A (p.Ile1637Asn)
c.5066T>A (p.Ile1689Asn)
c.5273T>A (p.Ile1758Asn)
c.4574T>A (p.Ile1525Asn)
c.5321T>A (p.Ile1774Asn)
 dbSNP
16g.3729721T>ACA394557164CREBBPc.5326A>T (p.Ile1776Phe)
c.5212A>T (p.Ile1738Phe)
c.5281A>T (p.Ile1761Phe)
c.4909A>T (p.Ile1637Phe)
c.5065A>T (p.Ile1689Phe)
c.5272A>T (p.Ile1758Phe)
c.4573A>T (p.Ile1525Phe)
c.5320A>T (p.Ile1774Phe)
 dbSNP
16g.3729721T>CCA394557162CREBBPc.5326A>G (p.Ile1776Val)
c.5212A>G (p.Ile1738Val)
c.5281A>G (p.Ile1761Val)
c.4909A>G (p.Ile1637Val)
c.5065A>G (p.Ile1689Val)
c.5272A>G (p.Ile1758Val)
c.4573A>G (p.Ile1525Val)
c.5320A>G (p.Ile1774Val)
16g.3729721T>GCA394557161CREBBPc.5326A>C (p.Ile1776Leu)
c.5212A>C (p.Ile1738Leu)
c.5281A>C (p.Ile1761Leu)
c.4909A>C (p.Ile1637Leu)
c.5065A>C (p.Ile1689Leu)
c.5272A>C (p.Ile1758Leu)
c.4573A>C (p.Ile1525Leu)
c.5320A>C (p.Ile1774Leu)
 dbSNP
16g.3729722G>ACA7869294CREBBPc.5325C>T (p.Cys1775=)
c.5211C>T (p.Cys1737=)
c.5280C>T (p.Cys1760=)
c.4908C>T (p.Cys1636=)
c.5064C>T (p.Cys1688=)
c.5271C>T (p.Cys1757=)
c.4572C>T (p.Cys1524=)
c.5319C>T (p.Cys1773=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729722G>CCA394557169CREBBPc.5325C>G (p.Cys1775Trp)
c.5211C>G (p.Cys1737Trp)
c.5280C>G (p.Cys1760Trp)
c.4908C>G (p.Cys1636Trp)
c.5064C>G (p.Cys1688Trp)
c.5271C>G (p.Cys1757Trp)
c.4572C>G (p.Cys1524Trp)
c.5319C>G (p.Cys1773Trp)
 dbSNP
16g.3729722G=CA2202916508CREBBPc.5325C= (p.Cys1775=)
c.5211C= (p.Cys1737=)
c.5280C= (p.Cys1760=)
c.4908C= (p.Cys1636=)
c.5064C= (p.Cys1688=)
c.5271C= (p.Cys1757=)
c.4572C= (p.Cys1524=)
c.5319C= (p.Cys1773=)
16g.3729722G>TCA394557167CREBBPc.5325C>A (p.Cys1775Ter)
c.5211C>A (p.Cys1737Ter)
c.5280C>A (p.Cys1760Ter)
c.4908C>A (p.Cys1636Ter)
c.5064C>A (p.Cys1688Ter)
c.5271C>A (p.Cys1757Ter)
c.4572C>A (p.Cys1524Ter)
c.5319C>A (p.Cys1773Ter)
16g.3729723C>ACA394557171CREBBPc.5324G>T (p.Cys1775Phe)
c.5210G>T (p.Cys1737Phe)
c.5279G>T (p.Cys1760Phe)
c.4907G>T (p.Cys1636Phe)
c.5063G>T (p.Cys1688Phe)
c.5270G>T (p.Cys1757Phe)
c.4571G>T (p.Cys1524Phe)
c.5318G>T (p.Cys1773Phe)
16g.3729723C>GCA394557172CREBBPc.5324G>C (p.Cys1775Ser)
c.5210G>C (p.Cys1737Ser)
c.5279G>C (p.Cys1760Ser)
c.4907G>C (p.Cys1636Ser)
c.5063G>C (p.Cys1688Ser)
c.5270G>C (p.Cys1757Ser)
c.4571G>C (p.Cys1524Ser)
c.5318G>C (p.Cys1773Ser)
 dbSNP
16g.3729723C>TCA394557174CREBBPc.5324G>A (p.Cys1775Tyr)
c.5210G>A (p.Cys1737Tyr)
c.5279G>A (p.Cys1760Tyr)
c.4907G>A (p.Cys1636Tyr)
c.5063G>A (p.Cys1688Tyr)
c.5270G>A (p.Cys1757Tyr)
c.4571G>A (p.Cys1524Tyr)
c.5318G>A (p.Cys1773Tyr)
 dbSNP gnomAD v4
16g.3729724A=CA2202916509CREBBPc.5323T= (p.Cys1775=)
c.5209T= (p.Cys1737=)
c.5278T= (p.Cys1760=)
c.4906T= (p.Cys1636=)
c.5062T= (p.Cys1688=)
c.5269T= (p.Cys1757=)
c.4570T= (p.Cys1524=)
c.5317T= (p.Cys1773=)
16g.3729724A>CCA394557176CREBBPc.5323T>G (p.Cys1775Gly)
c.5209T>G (p.Cys1737Gly)
c.5278T>G (p.Cys1760Gly)
c.4906T>G (p.Cys1636Gly)
c.5062T>G (p.Cys1688Gly)
c.5269T>G (p.Cys1757Gly)
c.4570T>G (p.Cys1524Gly)
c.5317T>G (p.Cys1773Gly)
16g.3729724A>GCA16607414CREBBPc.5323T>C (p.Cys1775Arg)
c.5209T>C (p.Cys1737Arg)
c.5278T>C (p.Cys1760Arg)
c.4906T>C (p.Cys1636Arg)
c.5062T>C (p.Cys1688Arg)
c.5269T>C (p.Cys1757Arg)
c.4570T>C (p.Cys1524Arg)
c.5317T>C (p.Cys1773Arg)
 ClinVar dbSNP
16g.3729724A>TCA394557177CREBBPc.5323T>A (p.Cys1775Ser)
c.5209T>A (p.Cys1737Ser)
c.5278T>A (p.Cys1760Ser)
c.4906T>A (p.Cys1636Ser)
c.5062T>A (p.Cys1688Ser)
c.5269T>A (p.Cys1757Ser)
c.4570T>A (p.Cys1524Ser)
c.5317T>A (p.Cys1773Ser)
 dbSNP
16g.3729725G>ACA493394210CREBBPc.5322C>T (p.Arg1774=)
c.5208C>T (p.Arg1736=)
c.5277C>T (p.Arg1759=)
c.4905C>T (p.Arg1635=)
c.5061C>T (p.Arg1687=)
c.5268C>T (p.Arg1756=)
c.4569C>T (p.Arg1523=)
c.5316C>T (p.Arg1772=)
 dbSNP
16g.3729725G>CCA493394212CREBBPc.5322C>G (p.Arg1774=)
c.5208C>G (p.Arg1736=)
c.5277C>G (p.Arg1759=)
c.4905C>G (p.Arg1635=)
c.5061C>G (p.Arg1687=)
c.5268C>G (p.Arg1756=)
c.4569C>G (p.Arg1523=)
c.5316C>G (p.Arg1772=)
 dbSNP
16g.3729725G>TCA493394211CREBBPc.5322C>A (p.Arg1774=)
c.5208C>A (p.Arg1736=)
c.5277C>A (p.Arg1759=)
c.4905C>A (p.Arg1635=)
c.5061C>A (p.Arg1687=)
c.5268C>A (p.Arg1756=)
c.4569C>A (p.Arg1523=)
c.5316C>A (p.Arg1772=)
16g.3729726C>ACA394557179CREBBPc.5321G>T (p.Arg1774Leu)
c.5207G>T (p.Arg1736Leu)
c.5276G>T (p.Arg1759Leu)
c.4904G>T (p.Arg1635Leu)
c.5060G>T (p.Arg1687Leu)
c.5267G>T (p.Arg1756Leu)
c.4568G>T (p.Arg1523Leu)
c.5315G>T (p.Arg1772Leu)
 gnomAD v4
16g.3729726C>GCA394557181CREBBPc.5321G>C (p.Arg1774Pro)
c.5207G>C (p.Arg1736Pro)
c.5276G>C (p.Arg1759Pro)
c.4904G>C (p.Arg1635Pro)
c.5060G>C (p.Arg1687Pro)
c.5267G>C (p.Arg1756Pro)
c.4568G>C (p.Arg1523Pro)
c.5315G>C (p.Arg1772Pro)
 dbSNP
16g.3729726C>TCA394557183CREBBPc.5321G>A (p.Arg1774His)
c.5207G>A (p.Arg1736His)
c.5276G>A (p.Arg1759His)
c.4904G>A (p.Arg1635His)
c.5060G>A (p.Arg1687His)
c.5267G>A (p.Arg1756His)
c.4568G>A (p.Arg1523His)
c.5315G>A (p.Arg1772His)
 gnomAD v4
16g.3729727G>ACA394557185CREBBPc.5320C>T (p.Arg1774Cys)
c.5206C>T (p.Arg1736Cys)
c.5275C>T (p.Arg1759Cys)
c.4903C>T (p.Arg1635Cys)
c.5059C>T (p.Arg1687Cys)
c.5266C>T (p.Arg1756Cys)
c.4567C>T (p.Arg1523Cys)
c.5314C>T (p.Arg1772Cys)
 dbSNP gnomAD v4
16g.3729727G>CCA394557187CREBBPc.5320C>G (p.Arg1774Gly)
c.5206C>G (p.Arg1736Gly)
c.5275C>G (p.Arg1759Gly)
c.4903C>G (p.Arg1635Gly)
c.5059C>G (p.Arg1687Gly)
c.5266C>G (p.Arg1756Gly)
c.4567C>G (p.Arg1523Gly)
c.5314C>G (p.Arg1772Gly)
 dbSNP
16g.3729727G>TCA394557189CREBBPc.5320C>A (p.Arg1774Ser)
c.5206C>A (p.Arg1736Ser)
c.5275C>A (p.Arg1759Ser)
c.4903C>A (p.Arg1635Ser)
c.5059C>A (p.Arg1687Ser)
c.5266C>A (p.Arg1756Ser)
c.4567C>A (p.Arg1523Ser)
c.5314C>A (p.Arg1772Ser)
 dbSNP gnomAD v4
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

Number of alleles fetched