Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3729456_3729476dupCA2580091119CREBBPc.5572_5592dup (p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu)
c.5458_5478dup (p.Leu1826_Met1827insArgLeuGlnGlnAlaGlnLeu)
c.5527_5547dup (p.Leu1849_Met1850insArgLeuGlnGlnAlaGlnLeu)
c.5155_5175dup (p.Leu1725_Met1726insArgLeuGlnGlnAlaGlnLeu)
c.5311_5331dup (p.Leu1777_Met1778insArgLeuGlnGlnAlaGlnLeu)
c.5518_5538dup (p.Leu1846_Met1847insArgLeuGlnGlnAlaGlnLeu)
c.4819_4839dup (p.Leu1613_Met1614insArgLeuGlnGlnAlaGlnLeu)
c.5566_5586dup (p.Leu1862_Met1863insArgLeuGlnGlnAlaGlnLeu)
ClinVar
16g.3729462_3729482dupCA2580091120CREBBPc.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
c.5456_5476dup (p.Gln1825_Leu1826insHisArgLeuGlnGlnAlaGln)
c.5525_5545dup (p.Gln1848_Leu1849insHisArgLeuGlnGlnAlaGln)
c.5153_5173dup (p.Gln1724_Leu1725insHisArgLeuGlnGlnAlaGln)
c.5309_5329dup (p.Gln1776_Leu1777insHisArgLeuGlnGlnAlaGln)
c.5516_5536dup (p.Gln1845_Leu1846insHisArgLeuGlnGlnAlaGln)
c.4817_4837dup (p.Gln1612_Leu1613insHisArgLeuGlnGlnAlaGln)
c.5564_5584dup (p.Gln1861_Leu1862insHisArgLeuGlnGlnAlaGln)
ClinVar
16g.3729462_3729482delCA2695222627CREBBPc.5570_5590del (p.His1857_Gln1863del)
c.5456_5476del (p.His1819_Gln1825del)
c.5525_5545del (p.His1842_Gln1848del)
c.5153_5173del (p.His1718_Gln1724del)
c.5309_5329del (p.His1770_Gln1776del)
c.5516_5536del (p.His1839_Gln1845del)
c.4817_4837del (p.His1606_Gln1612del)
c.5564_5584del (p.His1855_Gln1861del)
16g.3729471_3729491dupCA16620197CREBBPc.5563_5583dup (p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln)
c.5449_5469dup (p.Gln1823_Ala1824insIleGlnHisArgLeuGlnGln)
c.5518_5538dup (p.Gln1846_Ala1847insIleGlnHisArgLeuGlnGln)
c.5146_5166dup (p.Gln1722_Ala1723insIleGlnHisArgLeuGlnGln)
c.5302_5322dup (p.Gln1774_Ala1775insIleGlnHisArgLeuGlnGln)
c.5509_5529dup (p.Gln1843_Ala1844insIleGlnHisArgLeuGlnGln)
c.4810_4830dup (p.Gln1610_Ala1611insIleGlnHisArgLeuGlnGln)
c.5557_5577dup (p.Gln1859_Ala1860insIleGlnHisArgLeuGlnGln)
ClinVar dbSNP
16g.3729471_3729491delCA2695222628CREBBPc.5563_5583del (p.Ile1855_Gln1861del)
c.5449_5469del (p.Ile1817_Gln1823del)
c.5518_5538del (p.Ile1840_Gln1846del)
c.5146_5166del (p.Ile1716_Gln1722del)
c.5302_5322del (p.Ile1768_Gln1774del)
c.5509_5529del (p.Ile1837_Gln1843del)
c.4810_4830del (p.Ile1604_Gln1610del)
c.5557_5577del (p.Ile1853_Gln1859del)
16g.3729469G>ACA394555977CREBBPc.5578C>T (p.Gln1860Ter)
c.5464C>T (p.Gln1822Ter)
c.5533C>T (p.Gln1845Ter)
c.5161C>T (p.Gln1721Ter)
c.5317C>T (p.Gln1773Ter)
c.5524C>T (p.Gln1842Ter)
c.4825C>T (p.Gln1609Ter)
c.5572C>T (p.Gln1858Ter)
dbSNP
16g.3729469G>CCA394555978CREBBPc.5578C>G (p.Gln1860Glu)
c.5464C>G (p.Gln1822Glu)
c.5533C>G (p.Gln1845Glu)
c.5161C>G (p.Gln1721Glu)
c.5317C>G (p.Gln1773Glu)
c.5524C>G (p.Gln1842Glu)
c.4825C>G (p.Gln1609Glu)
c.5572C>G (p.Gln1858Glu)
dbSNP
16g.3729469G>TCA394555979CREBBPc.5578C>A (p.Gln1860Lys)
c.5464C>A (p.Gln1822Lys)
c.5533C>A (p.Gln1845Lys)
c.5161C>A (p.Gln1721Lys)
c.5317C>A (p.Gln1773Lys)
c.5524C>A (p.Gln1842Lys)
c.4825C>A (p.Gln1609Lys)
c.5572C>A (p.Gln1858Lys)
16g.3729470C>ACA493394025CREBBPc.5577G>T (p.Leu1859=)
c.5463G>T (p.Leu1821=)
c.5532G>T (p.Leu1844=)
c.5160G>T (p.Leu1720=)
c.5316G>T (p.Leu1772=)
c.5523G>T (p.Leu1841=)
c.4824G>T (p.Leu1608=)
c.5571G>T (p.Leu1857=)
16g.3729470C=CA2202916417CREBBPc.5577G= (p.Leu1859=)
c.5463G= (p.Leu1821=)
c.5532G= (p.Leu1844=)
c.5160G= (p.Leu1720=)
c.5316G= (p.Leu1772=)
c.5523G= (p.Leu1841=)
c.4824G= (p.Leu1608=)
c.5571G= (p.Leu1857=)
16g.3729470C>GCA493394026CREBBPc.5577G>C (p.Leu1859=)
c.5463G>C (p.Leu1821=)
c.5532G>C (p.Leu1844=)
c.5160G>C (p.Leu1720=)
c.5316G>C (p.Leu1772=)
c.5523G>C (p.Leu1841=)
c.4824G>C (p.Leu1608=)
c.5571G>C (p.Leu1857=)
16g.3729470C>TCA493394027CREBBPc.5577G>A (p.Leu1859=)
c.5463G>A (p.Leu1821=)
c.5532G>A (p.Leu1844=)
c.5160G>A (p.Leu1720=)
c.5316G>A (p.Leu1772=)
c.5523G>A (p.Leu1841=)
c.4824G>A (p.Leu1608=)
c.5571G>A (p.Leu1857=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729471A>CCA394555982CREBBPc.5576T>G (p.Leu1859Arg)
c.5462T>G (p.Leu1821Arg)
c.5531T>G (p.Leu1844Arg)
c.5159T>G (p.Leu1720Arg)
c.5315T>G (p.Leu1772Arg)
c.5522T>G (p.Leu1841Arg)
c.4823T>G (p.Leu1608Arg)
c.5570T>G (p.Leu1857Arg)
16g.3729471A>GCA394555981CREBBPc.5576T>C (p.Leu1859Pro)
c.5462T>C (p.Leu1821Pro)
c.5531T>C (p.Leu1844Pro)
c.5159T>C (p.Leu1720Pro)
c.5315T>C (p.Leu1772Pro)
c.5522T>C (p.Leu1841Pro)
c.4823T>C (p.Leu1608Pro)
c.5570T>C (p.Leu1857Pro)
dbSNP
16g.3729471A>TCA394555980CREBBPc.5576T>A (p.Leu1859Gln)
c.5462T>A (p.Leu1821Gln)
c.5531T>A (p.Leu1844Gln)
c.5159T>A (p.Leu1720Gln)
c.5315T>A (p.Leu1772Gln)
c.5522T>A (p.Leu1841Gln)
c.4823T>A (p.Leu1608Gln)
c.5570T>A (p.Leu1857Gln)
dbSNP
16g.3729472G>ACA7869269CREBBPc.5575C>T (p.Leu1859=)
c.5461C>T (p.Leu1821=)
c.5530C>T (p.Leu1844=)
c.5158C>T (p.Leu1720=)
c.5314C>T (p.Leu1772=)
c.5521C>T (p.Leu1841=)
c.4822C>T (p.Leu1608=)
c.5569C>T (p.Leu1857=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729472G>CCA394555983CREBBPc.5575C>G (p.Leu1859Val)
c.5461C>G (p.Leu1821Val)
c.5530C>G (p.Leu1844Val)
c.5158C>G (p.Leu1720Val)
c.5314C>G (p.Leu1772Val)
c.5521C>G (p.Leu1841Val)
c.4822C>G (p.Leu1608Val)
c.5569C>G (p.Leu1857Val)
dbSNP
16g.3729472G=CA2202916418CREBBPc.5575C= (p.Leu1859=)
c.5461C= (p.Leu1821=)
c.5530C= (p.Leu1844=)
c.5158C= (p.Leu1720=)
c.5314C= (p.Leu1772=)
c.5521C= (p.Leu1841=)
c.4822C= (p.Leu1608=)
c.5569C= (p.Leu1857=)
16g.3729472G>TCA394555984CREBBPc.5575C>A (p.Leu1859Met)
c.5461C>A (p.Leu1821Met)
c.5530C>A (p.Leu1844Met)
c.5158C>A (p.Leu1720Met)
c.5314C>A (p.Leu1772Met)
c.5521C>A (p.Leu1841Met)
c.4822C>A (p.Leu1608Met)
c.5569C>A (p.Leu1857Met)
16g.3729477_3729497delCA2573152061CREBBPc.5555_5575del (p.Gln1852_Arg1858del)
c.5441_5461del (p.Gln1814_Arg1820del)
c.5510_5530del (p.Gln1837_Arg1843del)
c.5138_5158del (p.Gln1713_Arg1719del)
c.5294_5314del (p.Gln1765_Arg1771del)
c.5501_5521del (p.Gln1834_Arg1840del)
c.4802_4822del (p.Gln1601_Arg1607del)
c.5549_5569del (p.Gln1850_Arg1856del)
ClinVar dbSNP
16g.3729473G>ACA493394031CREBBPc.5574C>T (p.Arg1858=)
c.5460C>T (p.Arg1820=)
c.5529C>T (p.Arg1843=)
c.5157C>T (p.Arg1719=)
c.5313C>T (p.Arg1771=)
c.5520C>T (p.Arg1840=)
c.4821C>T (p.Arg1607=)
c.5568C>T (p.Arg1856=)
dbSNP
16g.3729473G>CCA493394033CREBBPc.5574C>G (p.Arg1858=)
c.5460C>G (p.Arg1820=)
c.5529C>G (p.Arg1843=)
c.5157C>G (p.Arg1719=)
c.5313C>G (p.Arg1771=)
c.5520C>G (p.Arg1840=)
c.4821C>G (p.Arg1607=)
c.5568C>G (p.Arg1856=)
dbSNP
16g.3729473G>TCA493394034CREBBPc.5574C>A (p.Arg1858=)
c.5460C>A (p.Arg1820=)
c.5529C>A (p.Arg1843=)
c.5157C>A (p.Arg1719=)
c.5313C>A (p.Arg1771=)
c.5520C>A (p.Arg1840=)
c.4821C>A (p.Arg1607=)
c.5568C>A (p.Arg1856=)
dbSNP
16g.3729474C>ACA394555985CREBBPc.5573G>T (p.Arg1858Leu)
c.5459G>T (p.Arg1820Leu)
c.5528G>T (p.Arg1843Leu)
c.5156G>T (p.Arg1719Leu)
c.5312G>T (p.Arg1771Leu)
c.5519G>T (p.Arg1840Leu)
c.4820G>T (p.Arg1607Leu)
c.5567G>T (p.Arg1856Leu)
dbSNP
16g.3729474C=CA2202916419CREBBPc.5573G= (p.Arg1858=)
c.5459G= (p.Arg1820=)
c.5528G= (p.Arg1843=)
c.5156G= (p.Arg1719=)
c.5312G= (p.Arg1771=)
c.5519G= (p.Arg1840=)
c.4820G= (p.Arg1607=)
c.5567G= (p.Arg1856=)
16g.3729474C>GCA394555986CREBBPc.5573G>C (p.Arg1858Pro)
c.5459G>C (p.Arg1820Pro)
c.5528G>C (p.Arg1843Pro)
c.5156G>C (p.Arg1719Pro)
c.5312G>C (p.Arg1771Pro)
c.5519G>C (p.Arg1840Pro)
c.4820G>C (p.Arg1607Pro)
c.5567G>C (p.Arg1856Pro)
ClinVar dbSNP
16g.3729474C>TCA7869270CREBBPc.5573G>A (p.Arg1858His)
c.5459G>A (p.Arg1820His)
c.5528G>A (p.Arg1843His)
c.5156G>A (p.Arg1719His)
c.5312G>A (p.Arg1771His)
c.5519G>A (p.Arg1840His)
c.4820G>A (p.Arg1607His)
c.5567G>A (p.Arg1856His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.3729475G>ACA394555987CREBBPc.5572C>T (p.Arg1858Cys)
c.5458C>T (p.Arg1820Cys)
c.5527C>T (p.Arg1843Cys)
c.5155C>T (p.Arg1719Cys)
c.5311C>T (p.Arg1771Cys)
c.5518C>T (p.Arg1840Cys)
c.4819C>T (p.Arg1607Cys)
c.5566C>T (p.Arg1856Cys)
dbSNP gnomAD v2
16g.3729475G>CCA394555989CREBBPc.5572C>G (p.Arg1858Gly)
c.5458C>G (p.Arg1820Gly)
c.5527C>G (p.Arg1843Gly)
c.5155C>G (p.Arg1719Gly)
c.5311C>G (p.Arg1771Gly)
c.5518C>G (p.Arg1840Gly)
c.4819C>G (p.Arg1607Gly)
c.5566C>G (p.Arg1856Gly)
dbSNP
16g.3729475G=CA2202916420CREBBPc.5572C= (p.Arg1858=)
c.5458C= (p.Arg1820=)
c.5527C= (p.Arg1843=)
c.5155C= (p.Arg1719=)
c.5311C= (p.Arg1771=)
c.5518C= (p.Arg1840=)
c.4819C= (p.Arg1607=)
c.5566C= (p.Arg1856=)
16g.3729475G>TCA394555988CREBBPc.5572C>A (p.Arg1858Ser)
c.5458C>A (p.Arg1820Ser)
c.5527C>A (p.Arg1843Ser)
c.5155C>A (p.Arg1719Ser)
c.5311C>A (p.Arg1771Ser)
c.5518C>A (p.Arg1840Ser)
c.4819C>A (p.Arg1607Ser)
c.5566C>A (p.Arg1856Ser)
16g.3729476G>ACA7869271CREBBPc.5571C>T (p.His1857=)
c.5457C>T (p.His1819=)
c.5526C>T (p.His1842=)
c.5154C>T (p.His1718=)
c.5310C>T (p.His1770=)
c.5517C>T (p.His1839=)
c.4818C>T (p.His1606=)
c.5565C>T (p.His1855=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729476G>CCA394555990CREBBPc.5571C>G (p.His1857Gln)
c.5457C>G (p.His1819Gln)
c.5526C>G (p.His1842Gln)
c.5154C>G (p.His1718Gln)
c.5310C>G (p.His1770Gln)
c.5517C>G (p.His1839Gln)
c.4818C>G (p.His1606Gln)
c.5565C>G (p.His1855Gln)
dbSNP
16g.3729476G=CA2202916421CREBBPc.5571C= (p.His1857=)
c.5457C= (p.His1819=)
c.5526C= (p.His1842=)
c.5154C= (p.His1718=)
c.5310C= (p.His1770=)
c.5517C= (p.His1839=)
c.4818C= (p.His1606=)
c.5565C= (p.His1855=)
16g.3729476G>TCA394555991CREBBPc.5571C>A (p.His1857Gln)
c.5457C>A (p.His1819Gln)
c.5526C>A (p.His1842Gln)
c.5154C>A (p.His1718Gln)
c.5310C>A (p.His1770Gln)
c.5517C>A (p.His1839Gln)
c.4818C>A (p.His1606Gln)
c.5565C>A (p.His1855Gln)
16g.3729477T>ACA394555992CREBBPc.5570A>T (p.His1857Leu)
c.5456A>T (p.His1819Leu)
c.5525A>T (p.His1842Leu)
c.5153A>T (p.His1718Leu)
c.5309A>T (p.His1770Leu)
c.5516A>T (p.His1839Leu)
c.4817A>T (p.His1606Leu)
c.5564A>T (p.His1855Leu)
dbSNP
16g.3729477T>CCA394555993CREBBPc.5570A>G (p.His1857Arg)
c.5456A>G (p.His1819Arg)
c.5525A>G (p.His1842Arg)
c.5153A>G (p.His1718Arg)
c.5309A>G (p.His1770Arg)
c.5516A>G (p.His1839Arg)
c.4817A>G (p.His1606Arg)
c.5564A>G (p.His1855Arg)
dbSNP
16g.3729477T>GCA16620198CREBBPc.5570A>C (p.His1857Pro)
c.5456A>C (p.His1819Pro)
c.5525A>C (p.His1842Pro)
c.5153A>C (p.His1718Pro)
c.5309A>C (p.His1770Pro)
c.5516A>C (p.His1839Pro)
c.4817A>C (p.His1606Pro)
c.5564A>C (p.His1855Pro)
ClinVar dbSNP
16g.3729477T=CA2202916422CREBBPc.5570A= (p.His1857=)
c.5456A= (p.His1819=)
c.5525A= (p.His1842=)
c.5153A= (p.His1718=)
c.5309A= (p.His1770=)
c.5516A= (p.His1839=)
c.4817A= (p.His1606=)
c.5564A= (p.His1855=)
16g.3729478G>ACA394555994CREBBPc.5569C>T (p.His1857Tyr)
c.5455C>T (p.His1819Tyr)
c.5524C>T (p.His1842Tyr)
c.5152C>T (p.His1718Tyr)
c.5308C>T (p.His1770Tyr)
c.5515C>T (p.His1839Tyr)
c.4816C>T (p.His1606Tyr)
c.5563C>T (p.His1855Tyr)
dbSNP
16g.3729478G>CCA394555995CREBBPc.5569C>G (p.His1857Asp)
c.5455C>G (p.His1819Asp)
c.5524C>G (p.His1842Asp)
c.5152C>G (p.His1718Asp)
c.5308C>G (p.His1770Asp)
c.5515C>G (p.His1839Asp)
c.4816C>G (p.His1606Asp)
c.5563C>G (p.His1855Asp)
dbSNP
16g.3729478G>TCA394555996CREBBPc.5569C>A (p.His1857Asn)
c.5455C>A (p.His1819Asn)
c.5524C>A (p.His1842Asn)
c.5152C>A (p.His1718Asn)
c.5308C>A (p.His1770Asn)
c.5515C>A (p.His1839Asn)
c.4816C>A (p.His1606Asn)
c.5563C>A (p.His1855Asn)
dbSNP
16g.3729481_3729501delCA1139654943CREBBPc.5549_5569del (p.Leu1850_Gln1856del)
c.5435_5455del (p.Leu1812_Gln1818del)
c.5504_5524del (p.Leu1835_Gln1841del)
c.5132_5152del (p.Leu1711_Gln1717del)
c.5288_5308del (p.Leu1763_Gln1769del)
c.5495_5515del (p.Leu1832_Gln1838del)
c.4796_4816del (p.Leu1599_Gln1605del)
c.5543_5563del (p.Leu1848_Gln1854del)
16g.3729479C>ACA394555997CREBBPc.5568G>T (p.Gln1856His)
c.5454G>T (p.Gln1818His)
c.5523G>T (p.Gln1841His)
c.5151G>T (p.Gln1717His)
c.5307G>T (p.Gln1769His)
c.5514G>T (p.Gln1838His)
c.4815G>T (p.Gln1605His)
c.5562G>T (p.Gln1854His)
16g.3729479C>GCA394555998CREBBPc.5568G>C (p.Gln1856His)
c.5454G>C (p.Gln1818His)
c.5523G>C (p.Gln1841His)
c.5151G>C (p.Gln1717His)
c.5307G>C (p.Gln1769His)
c.5514G>C (p.Gln1838His)
c.4815G>C (p.Gln1605His)
c.5562G>C (p.Gln1854His)
dbSNP
16g.3729479C>TCA493394044CREBBPc.5568G>A (p.Gln1856=)
c.5454G>A (p.Gln1818=)
c.5523G>A (p.Gln1841=)
c.5151G>A (p.Gln1717=)
c.5307G>A (p.Gln1769=)
c.5514G>A (p.Gln1838=)
c.4815G>A (p.Gln1605=)
c.5562G>A (p.Gln1854=)
dbSNP
16g.3729480T>ACA394555999CREBBPc.5567A>T (p.Gln1856Leu)
c.5453A>T (p.Gln1818Leu)
c.5522A>T (p.Gln1841Leu)
c.5150A>T (p.Gln1717Leu)
c.5306A>T (p.Gln1769Leu)
c.5513A>T (p.Gln1838Leu)
c.4814A>T (p.Gln1605Leu)
c.5561A>T (p.Gln1854Leu)
16g.3729480T>CCA394556001CREBBPc.5567A>G (p.Gln1856Arg)
c.5453A>G (p.Gln1818Arg)
c.5522A>G (p.Gln1841Arg)
c.5150A>G (p.Gln1717Arg)
c.5306A>G (p.Gln1769Arg)
c.5513A>G (p.Gln1838Arg)
c.4814A>G (p.Gln1605Arg)
c.5561A>G (p.Gln1854Arg)
16g.3729480T>GCA394556000CREBBPc.5567A>C (p.Gln1856Pro)
c.5453A>C (p.Gln1818Pro)
c.5522A>C (p.Gln1841Pro)
c.5150A>C (p.Gln1717Pro)
c.5306A>C (p.Gln1769Pro)
c.5513A>C (p.Gln1838Pro)
c.4814A>C (p.Gln1605Pro)
c.5561A>C (p.Gln1854Pro)
16g.3729481G>ACA394556002CREBBPc.5566C>T (p.Gln1856Ter)
c.5452C>T (p.Gln1818Ter)
c.5521C>T (p.Gln1841Ter)
c.5149C>T (p.Gln1717Ter)
c.5305C>T (p.Gln1769Ter)
c.5512C>T (p.Gln1838Ter)
c.4813C>T (p.Gln1605Ter)
c.5560C>T (p.Gln1854Ter)
dbSNP COSMIC
16g.3729481G>CCA394556003CREBBPc.5566C>G (p.Gln1856Glu)
c.5452C>G (p.Gln1818Glu)
c.5521C>G (p.Gln1841Glu)
c.5149C>G (p.Gln1717Glu)
c.5305C>G (p.Gln1769Glu)
c.5512C>G (p.Gln1838Glu)
c.4813C>G (p.Gln1605Glu)
c.5560C>G (p.Gln1854Glu)
16g.3729481G>TCA394556004CREBBPc.5566C>A (p.Gln1856Lys)
c.5452C>A (p.Gln1818Lys)
c.5521C>A (p.Gln1841Lys)
c.5149C>A (p.Gln1717Lys)
c.5305C>A (p.Gln1769Lys)
c.5512C>A (p.Gln1838Lys)
c.4813C>A (p.Gln1605Lys)
c.5560C>A (p.Gln1854Lys)
dbSNP
16g.3729482G>ACA493394048CREBBPc.5565C>T (p.Ile1855=)
c.5451C>T (p.Ile1817=)
c.5520C>T (p.Ile1840=)
c.5148C>T (p.Ile1716=)
c.5304C>T (p.Ile1768=)
c.5511C>T (p.Ile1837=)
c.4812C>T (p.Ile1604=)
c.5559C>T (p.Ile1853=)
dbSNP
16g.3729482G>CCA394556005CREBBPc.5565C>G (p.Ile1855Met)
c.5451C>G (p.Ile1817Met)
c.5520C>G (p.Ile1840Met)
c.5148C>G (p.Ile1716Met)
c.5304C>G (p.Ile1768Met)
c.5511C>G (p.Ile1837Met)
c.4812C>G (p.Ile1604Met)
c.5559C>G (p.Ile1853Met)
dbSNP
16g.3729482G>TCA493394049CREBBPc.5565C>A (p.Ile1855=)
c.5451C>A (p.Ile1817=)
c.5520C>A (p.Ile1840=)
c.5148C>A (p.Ile1716=)
c.5304C>A (p.Ile1768=)
c.5511C>A (p.Ile1837=)
c.4812C>A (p.Ile1604=)
c.5559C>A (p.Ile1853=)
dbSNP
16g.3729483A=CA2202916423CREBBPc.5564T= (p.Ile1855=)
c.5450T= (p.Ile1817=)
c.5519T= (p.Ile1840=)
c.5147T= (p.Ile1716=)
c.5303T= (p.Ile1768=)
c.5510T= (p.Ile1837=)
c.4811T= (p.Ile1604=)
c.5558T= (p.Ile1853=)
16g.3729483A>CCA394556006CREBBPc.5564T>G (p.Ile1855Ser)
c.5450T>G (p.Ile1817Ser)
c.5519T>G (p.Ile1840Ser)
c.5147T>G (p.Ile1716Ser)
c.5303T>G (p.Ile1768Ser)
c.5510T>G (p.Ile1837Ser)
c.4811T>G (p.Ile1604Ser)
c.5558T>G (p.Ile1853Ser)
dbSNP
16g.3729483A>GCA394556007CREBBPc.5564T>C (p.Ile1855Thr)
c.5450T>C (p.Ile1817Thr)
c.5519T>C (p.Ile1840Thr)
c.5147T>C (p.Ile1716Thr)
c.5303T>C (p.Ile1768Thr)
c.5510T>C (p.Ile1837Thr)
c.4811T>C (p.Ile1604Thr)
c.5558T>C (p.Ile1853Thr)
dbSNP
16g.3729483A>TCA394556008CREBBPc.5564T>A (p.Ile1855Asn)
c.5450T>A (p.Ile1817Asn)
c.5519T>A (p.Ile1840Asn)
c.5147T>A (p.Ile1716Asn)
c.5303T>A (p.Ile1768Asn)
c.5510T>A (p.Ile1837Asn)
c.4811T>A (p.Ile1604Asn)
c.5558T>A (p.Ile1853Asn)
dbSNP
16g.3729484T>ACA394556009CREBBPc.5563A>T (p.Ile1855Phe)
c.5449A>T (p.Ile1817Phe)
c.5518A>T (p.Ile1840Phe)
c.5146A>T (p.Ile1716Phe)
c.5302A>T (p.Ile1768Phe)
c.5509A>T (p.Ile1837Phe)
c.4810A>T (p.Ile1604Phe)
c.5557A>T (p.Ile1853Phe)
16g.3729484T>CCA394556010CREBBPc.5563A>G (p.Ile1855Val)
c.5449A>G (p.Ile1817Val)
c.5518A>G (p.Ile1840Val)
c.5146A>G (p.Ile1716Val)
c.5302A>G (p.Ile1768Val)
c.5509A>G (p.Ile1837Val)
c.4810A>G (p.Ile1604Val)
c.5557A>G (p.Ile1853Val)
16g.3729484T>GCA394556011CREBBPc.5563A>C (p.Ile1855Leu)
c.5449A>C (p.Ile1817Leu)
c.5518A>C (p.Ile1840Leu)
c.5146A>C (p.Ile1716Leu)
c.5302A>C (p.Ile1768Leu)
c.5509A>C (p.Ile1837Leu)
c.4810A>C (p.Ile1604Leu)
c.5557A>C (p.Ile1853Leu)
dbSNP
16g.3729485C>ACA394556012CREBBPc.5562G>T (p.Gln1854His)
c.5448G>T (p.Gln1816His)
c.5517G>T (p.Gln1839His)
c.5145G>T (p.Gln1715His)
c.5301G>T (p.Gln1767His)
c.5508G>T (p.Gln1836His)
c.4809G>T (p.Gln1603His)
c.5556G>T (p.Gln1852His)
dbSNP
16g.3729485C=CA2202916424CREBBPc.5562G= (p.Gln1854=)
c.5448G= (p.Gln1816=)
c.5517G= (p.Gln1839=)
c.5145G= (p.Gln1715=)
c.5301G= (p.Gln1767=)
c.5508G= (p.Gln1836=)
c.4809G= (p.Gln1603=)
c.5556G= (p.Gln1852=)
16g.3729485C>GCA394556013CREBBPc.5562G>C (p.Gln1854His)
c.5448G>C (p.Gln1816His)
c.5517G>C (p.Gln1839His)
c.5145G>C (p.Gln1715His)
c.5301G>C (p.Gln1767His)
c.5508G>C (p.Gln1836His)
c.4809G>C (p.Gln1603His)
c.5556G>C (p.Gln1852His)
dbSNP
16g.3729485C>TCA493394050CREBBPc.5562G>A (p.Gln1854=)
c.5448G>A (p.Gln1816=)
c.5517G>A (p.Gln1839=)
c.5145G>A (p.Gln1715=)
c.5301G>A (p.Gln1767=)
c.5508G>A (p.Gln1836=)
c.4809G>A (p.Gln1603=)
c.5556G>A (p.Gln1852=)
dbSNP gnomAD v2 gnomAD v4
16g.3729486T>ACA394556016CREBBPc.5561A>T (p.Gln1854Leu)
c.5447A>T (p.Gln1816Leu)
c.5516A>T (p.Gln1839Leu)
c.5144A>T (p.Gln1715Leu)
c.5300A>T (p.Gln1767Leu)
c.5507A>T (p.Gln1836Leu)
c.4808A>T (p.Gln1603Leu)
c.5555A>T (p.Gln1852Leu)
dbSNP
16g.3729486T>CCA394556014CREBBPc.5561A>G (p.Gln1854Arg)
c.5447A>G (p.Gln1816Arg)
c.5516A>G (p.Gln1839Arg)
c.5144A>G (p.Gln1715Arg)
c.5300A>G (p.Gln1767Arg)
c.5507A>G (p.Gln1836Arg)
c.4808A>G (p.Gln1603Arg)
c.5555A>G (p.Gln1852Arg)
dbSNP
16g.3729486T>GCA394556015CREBBPc.5561A>C (p.Gln1854Pro)
c.5447A>C (p.Gln1816Pro)
c.5516A>C (p.Gln1839Pro)
c.5144A>C (p.Gln1715Pro)
c.5300A>C (p.Gln1767Pro)
c.5507A>C (p.Gln1836Pro)
c.4808A>C (p.Gln1603Pro)
c.5555A>C (p.Gln1852Pro)
ClinVar dbSNP
16g.3729486T=CA2202916425CREBBPc.5561A= (p.Gln1854=)
c.5447A= (p.Gln1816=)
c.5516A= (p.Gln1839=)
c.5144A= (p.Gln1715=)
c.5300A= (p.Gln1767=)
c.5507A= (p.Gln1836=)
c.4808A= (p.Gln1603=)
c.5555A= (p.Gln1852=)
16g.3729487G>ACA394556017CREBBPc.5560C>T (p.Gln1854Ter)
c.5446C>T (p.Gln1816Ter)
c.5515C>T (p.Gln1839Ter)
c.5143C>T (p.Gln1715Ter)
c.5299C>T (p.Gln1767Ter)
c.5506C>T (p.Gln1836Ter)
c.4807C>T (p.Gln1603Ter)
c.5554C>T (p.Gln1852Ter)
dbSNP COSMIC
16g.3729487G>CCA394556018CREBBPc.5560C>G (p.Gln1854Glu)
c.5446C>G (p.Gln1816Glu)
c.5515C>G (p.Gln1839Glu)
c.5143C>G (p.Gln1715Glu)
c.5299C>G (p.Gln1767Glu)
c.5506C>G (p.Gln1836Glu)
c.4807C>G (p.Gln1603Glu)
c.5554C>G (p.Gln1852Glu)
dbSNP
16g.3729487G>TCA394556019CREBBPc.5560C>A (p.Gln1854Lys)
c.5446C>A (p.Gln1816Lys)
c.5515C>A (p.Gln1839Lys)
c.5143C>A (p.Gln1715Lys)
c.5299C>A (p.Gln1767Lys)
c.5506C>A (p.Gln1836Lys)
c.4807C>A (p.Gln1603Lys)
c.5554C>A (p.Gln1852Lys)
16g.3729488C>ACA394556020CREBBPc.5559G>T (p.Gln1853His)
c.5445G>T (p.Gln1815His)
c.5514G>T (p.Gln1838His)
c.5142G>T (p.Gln1714His)
c.5298G>T (p.Gln1766His)
c.5505G>T (p.Gln1835His)
c.4806G>T (p.Gln1602His)
c.5553G>T (p.Gln1851His)
16g.3729488C>GCA394556021CREBBPc.5559G>C (p.Gln1853His)
c.5445G>C (p.Gln1815His)
c.5514G>C (p.Gln1838His)
c.5142G>C (p.Gln1714His)
c.5298G>C (p.Gln1766His)
c.5505G>C (p.Gln1835His)
c.4806G>C (p.Gln1602His)
c.5553G>C (p.Gln1851His)
dbSNP gnomAD v4
16g.3729488C>TCA493394055CREBBPc.5559G>A (p.Gln1853=)
c.5445G>A (p.Gln1815=)
c.5514G>A (p.Gln1838=)
c.5142G>A (p.Gln1714=)
c.5298G>A (p.Gln1766=)
c.5505G>A (p.Gln1835=)
c.4806G>A (p.Gln1602=)
c.5553G>A (p.Gln1851=)
dbSNP gnomAD v4
16g.3729489T>ACA276972201CREBBPc.5558A>T (p.Gln1853Leu)
c.5444A>T (p.Gln1815Leu)
c.5513A>T (p.Gln1838Leu)
c.5141A>T (p.Gln1714Leu)
c.5297A>T (p.Gln1766Leu)
c.5504A>T (p.Gln1835Leu)
c.4805A>T (p.Gln1602Leu)
c.5552A>T (p.Gln1851Leu)
dbSNP
16g.3729489T>CCA394556022CREBBPc.5558A>G (p.Gln1853Arg)
c.5444A>G (p.Gln1815Arg)
c.5513A>G (p.Gln1838Arg)
c.5141A>G (p.Gln1714Arg)
c.5297A>G (p.Gln1766Arg)
c.5504A>G (p.Gln1835Arg)
c.4805A>G (p.Gln1602Arg)
c.5552A>G (p.Gln1851Arg)
16g.3729489T>GCA394556023CREBBPc.5558A>C (p.Gln1853Pro)
c.5444A>C (p.Gln1815Pro)
c.5513A>C (p.Gln1838Pro)
c.5141A>C (p.Gln1714Pro)
c.5297A>C (p.Gln1766Pro)
c.5504A>C (p.Gln1835Pro)
c.4805A>C (p.Gln1602Pro)
c.5552A>C (p.Gln1851Pro)
ClinVar
16g.3729489T=CA2202916426CREBBPc.5558A= (p.Gln1853=)
c.5444A= (p.Gln1815=)
c.5513A= (p.Gln1838=)
c.5141A= (p.Gln1714=)
c.5297A= (p.Gln1766=)
c.5504A= (p.Gln1835=)
c.4805A= (p.Gln1602=)
c.5552A= (p.Gln1851=)
16g.3729490G>ACA394556024CREBBPc.5557C>T (p.Gln1853Ter)
c.5443C>T (p.Gln1815Ter)
c.5512C>T (p.Gln1838Ter)
c.5140C>T (p.Gln1714Ter)
c.5296C>T (p.Gln1766Ter)
c.5503C>T (p.Gln1835Ter)
c.4804C>T (p.Gln1602Ter)
c.5551C>T (p.Gln1851Ter)
dbSNP
16g.3729490G>CCA394556025CREBBPc.5557C>G (p.Gln1853Glu)
c.5443C>G (p.Gln1815Glu)
c.5512C>G (p.Gln1838Glu)
c.5140C>G (p.Gln1714Glu)
c.5296C>G (p.Gln1766Glu)
c.5503C>G (p.Gln1835Glu)
c.4804C>G (p.Gln1602Glu)
c.5551C>G (p.Gln1851Glu)
ClinVar dbSNP
16g.3729490G>TCA394556026CREBBPc.5557C>A (p.Gln1853Lys)
c.5443C>A (p.Gln1815Lys)
c.5512C>A (p.Gln1838Lys)
c.5140C>A (p.Gln1714Lys)
c.5296C>A (p.Gln1766Lys)
c.5503C>A (p.Gln1835Lys)
c.4804C>A (p.Gln1602Lys)
c.5551C>A (p.Gln1851Lys)
16g.3729491C>ACA394556028CREBBPc.5556G>T (p.Gln1852His)
c.5442G>T (p.Gln1814His)
c.5511G>T (p.Gln1837His)
c.5139G>T (p.Gln1713His)
c.5295G>T (p.Gln1765His)
c.5502G>T (p.Gln1834His)
c.4803G>T (p.Gln1601His)
c.5550G>T (p.Gln1850His)
dbSNP
16g.3729491C=CA2202916427CREBBPc.5556G= (p.Gln1852=)
c.5442G= (p.Gln1814=)
c.5511G= (p.Gln1837=)
c.5139G= (p.Gln1713=)
c.5295G= (p.Gln1765=)
c.5502G= (p.Gln1834=)
c.4803G= (p.Gln1601=)
c.5550G= (p.Gln1850=)
16g.3729491C>GCA394556027CREBBPc.5556G>C (p.Gln1852His)
c.5442G>C (p.Gln1814His)
c.5511G>C (p.Gln1837His)
c.5139G>C (p.Gln1713His)
c.5295G>C (p.Gln1765His)
c.5502G>C (p.Gln1834His)
c.4803G>C (p.Gln1601His)
c.5550G>C (p.Gln1850His)
dbSNP
16g.3729491C>TCA493394059CREBBPc.5556G>A (p.Gln1852=)
c.5442G>A (p.Gln1814=)
c.5511G>A (p.Gln1837=)
c.5139G>A (p.Gln1713=)
c.5295G>A (p.Gln1765=)
c.5502G>A (p.Gln1834=)
c.4803G>A (p.Gln1601=)
c.5550G>A (p.Gln1850=)
dbSNP
16g.3729492T>ACA394556029CREBBPc.5555A>T (p.Gln1852Leu)
c.5441A>T (p.Gln1814Leu)
c.5510A>T (p.Gln1837Leu)
c.5138A>T (p.Gln1713Leu)
c.5294A>T (p.Gln1765Leu)
c.5501A>T (p.Gln1834Leu)
c.4802A>T (p.Gln1601Leu)
c.5549A>T (p.Gln1850Leu)
16g.3729492T>CCA394556030CREBBPc.5555A>G (p.Gln1852Arg)
c.5441A>G (p.Gln1814Arg)
c.5510A>G (p.Gln1837Arg)
c.5138A>G (p.Gln1713Arg)
c.5294A>G (p.Gln1765Arg)
c.5501A>G (p.Gln1834Arg)
c.4802A>G (p.Gln1601Arg)
c.5549A>G (p.Gln1850Arg)
16g.3729492T>GCA394556031CREBBPc.5555A>C (p.Gln1852Pro)
c.5441A>C (p.Gln1814Pro)
c.5510A>C (p.Gln1837Pro)
c.5138A>C (p.Gln1713Pro)
c.5294A>C (p.Gln1765Pro)
c.5501A>C (p.Gln1834Pro)
c.4802A>C (p.Gln1601Pro)
c.5549A>C (p.Gln1850Pro)
16g.3729493G>ACA394556032CREBBPc.5554C>T (p.Gln1852Ter)
c.5440C>T (p.Gln1814Ter)
c.5509C>T (p.Gln1837Ter)
c.5137C>T (p.Gln1713Ter)
c.5293C>T (p.Gln1765Ter)
c.5500C>T (p.Gln1834Ter)
c.4801C>T (p.Gln1601Ter)
c.5548C>T (p.Gln1850Ter)
dbSNP
16g.3729493G>CCA394556033CREBBPc.5554C>G (p.Gln1852Glu)
c.5440C>G (p.Gln1814Glu)
c.5509C>G (p.Gln1837Glu)
c.5137C>G (p.Gln1713Glu)
c.5293C>G (p.Gln1765Glu)
c.5500C>G (p.Gln1834Glu)
c.4801C>G (p.Gln1601Glu)
c.5548C>G (p.Gln1850Glu)
16g.3729493G>TCA394556034CREBBPc.5554C>A (p.Gln1852Lys)
c.5440C>A (p.Gln1814Lys)
c.5509C>A (p.Gln1837Lys)
c.5137C>A (p.Gln1713Lys)
c.5293C>A (p.Gln1765Lys)
c.5500C>A (p.Gln1834Lys)
c.4801C>A (p.Gln1601Lys)
c.5548C>A (p.Gln1850Lys)
dbSNP
16g.3729494G>ACA493394065CREBBPc.5553C>T (p.Arg1851=)
c.5439C>T (p.Arg1813=)
c.5508C>T (p.Arg1836=)
c.5136C>T (p.Arg1712=)
c.5292C>T (p.Arg1764=)
c.5499C>T (p.Arg1833=)
c.4800C>T (p.Arg1600=)
c.5547C>T (p.Arg1849=)
dbSNP gnomAD v2 gnomAD v4
16g.3729494G>CCA493394066CREBBPc.5553C>G (p.Arg1851=)
c.5439C>G (p.Arg1813=)
c.5508C>G (p.Arg1836=)
c.5136C>G (p.Arg1712=)
c.5292C>G (p.Arg1764=)
c.5499C>G (p.Arg1833=)
c.4800C>G (p.Arg1600=)
c.5547C>G (p.Arg1849=)
dbSNP
16g.3729494G=CA2202916428CREBBPc.5553C= (p.Arg1851=)
c.5439C= (p.Arg1813=)
c.5508C= (p.Arg1836=)
c.5136C= (p.Arg1712=)
c.5292C= (p.Arg1764=)
c.5499C= (p.Arg1833=)
c.4800C= (p.Arg1600=)
c.5547C= (p.Arg1849=)
16g.3729494G>TCA493394067CREBBPc.5553C>A (p.Arg1851=)
c.5439C>A (p.Arg1813=)
c.5508C>A (p.Arg1836=)
c.5136C>A (p.Arg1712=)
c.5292C>A (p.Arg1764=)
c.5499C>A (p.Arg1833=)
c.4800C>A (p.Arg1600=)
c.5547C>A (p.Arg1849=)
dbSNP
16g.3729495C>ACA394556035CREBBPc.5552G>T (p.Arg1851Leu)
c.5438G>T (p.Arg1813Leu)
c.5507G>T (p.Arg1836Leu)
c.5135G>T (p.Arg1712Leu)
c.5291G>T (p.Arg1764Leu)
c.5498G>T (p.Arg1833Leu)
c.4799G>T (p.Arg1600Leu)
c.5546G>T (p.Arg1849Leu)
16g.3729495C=CA2202916429CREBBPc.5552G= (p.Arg1851=)
c.5438G= (p.Arg1813=)
c.5507G= (p.Arg1836=)
c.5135G= (p.Arg1712=)
c.5291G= (p.Arg1764=)
c.5498G= (p.Arg1833=)
c.4799G= (p.Arg1600=)
c.5546G= (p.Arg1849=)
16g.3729495C>GCA394556036CREBBPc.5552G>C (p.Arg1851Pro)
c.5438G>C (p.Arg1813Pro)
c.5507G>C (p.Arg1836Pro)
c.5135G>C (p.Arg1712Pro)
c.5291G>C (p.Arg1764Pro)
c.5498G>C (p.Arg1833Pro)
c.4799G>C (p.Arg1600Pro)
c.5546G>C (p.Arg1849Pro)
16g.3729495C>TCA276972205CREBBPc.5552G>A (p.Arg1851His)
c.5438G>A (p.Arg1813His)
c.5507G>A (p.Arg1836His)
c.5135G>A (p.Arg1712His)
c.5291G>A (p.Arg1764His)
c.5498G>A (p.Arg1833His)
c.4799G>A (p.Arg1600His)
c.5546G>A (p.Arg1849His)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729496G>ACA7869272CREBBPc.5551C>T (p.Arg1851Cys)
c.5437C>T (p.Arg1813Cys)
c.5506C>T (p.Arg1836Cys)
c.5134C>T (p.Arg1712Cys)
c.5290C>T (p.Arg1764Cys)
c.5497C>T (p.Arg1833Cys)
c.4798C>T (p.Arg1600Cys)
c.5545C>T (p.Arg1849Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729496G>CCA394556037CREBBPc.5551C>G (p.Arg1851Gly)
c.5437C>G (p.Arg1813Gly)
c.5506C>G (p.Arg1836Gly)
c.5134C>G (p.Arg1712Gly)
c.5290C>G (p.Arg1764Gly)
c.5497C>G (p.Arg1833Gly)
c.4798C>G (p.Arg1600Gly)
c.5545C>G (p.Arg1849Gly)
16g.3729496G=CA2202916430CREBBPc.5551C= (p.Arg1851=)
c.5437C= (p.Arg1813=)
c.5506C= (p.Arg1836=)
c.5134C= (p.Arg1712=)
c.5290C= (p.Arg1764=)
c.5497C= (p.Arg1833=)
c.4798C= (p.Arg1600=)
c.5545C= (p.Arg1849=)
16g.3729496G>TCA394556038CREBBPc.5551C>A (p.Arg1851Ser)
c.5437C>A (p.Arg1813Ser)
c.5506C>A (p.Arg1836Ser)
c.5134C>A (p.Arg1712Ser)
c.5290C>A (p.Arg1764Ser)
c.5497C>A (p.Arg1833Ser)
c.4798C>A (p.Arg1600Ser)
c.5545C>A (p.Arg1849Ser)
16g.3729497G>ACA7869273CREBBPc.5550C>T (p.Leu1850=)
c.5436C>T (p.Leu1812=)
c.5505C>T (p.Leu1835=)
c.5133C>T (p.Leu1711=)
c.5289C>T (p.Leu1763=)
c.5496C>T (p.Leu1832=)
c.4797C>T (p.Leu1599=)
c.5544C>T (p.Leu1848=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729497G>CCA493394069CREBBPc.5550C>G (p.Leu1850=)
c.5436C>G (p.Leu1812=)
c.5505C>G (p.Leu1835=)
c.5133C>G (p.Leu1711=)
c.5289C>G (p.Leu1763=)
c.5496C>G (p.Leu1832=)
c.4797C>G (p.Leu1599=)
c.5544C>G (p.Leu1848=)
dbSNP
16g.3729497G=CA2202916431CREBBPc.5550C= (p.Leu1850=)
c.5436C= (p.Leu1812=)
c.5505C= (p.Leu1835=)
c.5133C= (p.Leu1711=)
c.5289C= (p.Leu1763=)
c.5496C= (p.Leu1832=)
c.4797C= (p.Leu1599=)
c.5544C= (p.Leu1848=)
16g.3729497G>TCA493394071CREBBPc.5550C>A (p.Leu1850=)
c.5436C>A (p.Leu1812=)
c.5505C>A (p.Leu1835=)
c.5133C>A (p.Leu1711=)
c.5289C>A (p.Leu1763=)
c.5496C>A (p.Leu1832=)
c.4797C>A (p.Leu1599=)
c.5544C>A (p.Leu1848=)
dbSNP
16g.3729498A=CA2202916432CREBBPc.5549T= (p.Leu1850=)
c.5435T= (p.Leu1812=)
c.5504T= (p.Leu1835=)
c.5132T= (p.Leu1711=)
c.5288T= (p.Leu1763=)
c.5495T= (p.Leu1832=)
c.4796T= (p.Leu1599=)
c.5543T= (p.Leu1848=)
16g.3729498A>CCA394556041CREBBPc.5549T>G (p.Leu1850Arg)
c.5435T>G (p.Leu1812Arg)
c.5504T>G (p.Leu1835Arg)
c.5132T>G (p.Leu1711Arg)
c.5288T>G (p.Leu1763Arg)
c.5495T>G (p.Leu1832Arg)
c.4796T>G (p.Leu1599Arg)
c.5543T>G (p.Leu1848Arg)
16g.3729498A>GCA394556040CREBBPc.5549T>C (p.Leu1850Pro)
c.5435T>C (p.Leu1812Pro)
c.5504T>C (p.Leu1835Pro)
c.5132T>C (p.Leu1711Pro)
c.5288T>C (p.Leu1763Pro)
c.5495T>C (p.Leu1832Pro)
c.4796T>C (p.Leu1599Pro)
c.5543T>C (p.Leu1848Pro)
ClinVar dbSNP
16g.3729498A>TCA394556039CREBBPc.5549T>A (p.Leu1850His)
c.5435T>A (p.Leu1812His)
c.5504T>A (p.Leu1835His)
c.5132T>A (p.Leu1711His)
c.5288T>A (p.Leu1763His)
c.5495T>A (p.Leu1832His)
c.4796T>A (p.Leu1599His)
c.5543T>A (p.Leu1848His)
dbSNP
16g.3729499G>ACA394556042CREBBPc.5548C>T (p.Leu1850Phe)
c.5434C>T (p.Leu1812Phe)
c.5503C>T (p.Leu1835Phe)
c.5131C>T (p.Leu1711Phe)
c.5287C>T (p.Leu1763Phe)
c.5494C>T (p.Leu1832Phe)
c.4795C>T (p.Leu1599Phe)
c.5542C>T (p.Leu1848Phe)
16g.3729499G>CCA394556043CREBBPc.5548C>G (p.Leu1850Val)
c.5434C>G (p.Leu1812Val)
c.5503C>G (p.Leu1835Val)
c.5131C>G (p.Leu1711Val)
c.5287C>G (p.Leu1763Val)
c.5494C>G (p.Leu1832Val)
c.4795C>G (p.Leu1599Val)
c.5542C>G (p.Leu1848Val)
dbSNP
16g.3729499G>TCA394556044CREBBPc.5548C>A (p.Leu1850Ile)
c.5434C>A (p.Leu1812Ile)
c.5503C>A (p.Leu1835Ile)
c.5131C>A (p.Leu1711Ile)
c.5287C>A (p.Leu1763Ile)
c.5494C>A (p.Leu1832Ile)
c.4795C>A (p.Leu1599Ile)
c.5542C>A (p.Leu1848Ile)
dbSNP
16g.3729500C>ACA394556045CREBBPc.5547G>T (p.Lys1849Asn)
c.5433G>T (p.Lys1811Asn)
c.5502G>T (p.Lys1834Asn)
c.5130G>T (p.Lys1710Asn)
c.5286G>T (p.Lys1762Asn)
c.5493G>T (p.Lys1831Asn)
c.4794G>T (p.Lys1598Asn)
c.5541G>T (p.Lys1847Asn)
dbSNP
16g.3729500C=CA2202916433CREBBPc.5547G= (p.Lys1849=)
c.5433G= (p.Lys1811=)
c.5502G= (p.Lys1834=)
c.5130G= (p.Lys1710=)
c.5286G= (p.Lys1762=)
c.5493G= (p.Lys1831=)
c.4794G= (p.Lys1598=)
c.5541G= (p.Lys1847=)
16g.3729500C>GCA394556046CREBBPc.5547G>C (p.Lys1849Asn)
c.5433G>C (p.Lys1811Asn)
c.5502G>C (p.Lys1834Asn)
c.5130G>C (p.Lys1710Asn)
c.5286G>C (p.Lys1762Asn)
c.5493G>C (p.Lys1831Asn)
c.4794G>C (p.Lys1598Asn)
c.5541G>C (p.Lys1847Asn)
dbSNP
16g.3729500C>TCA493394075CREBBPc.5547G>A (p.Lys1849=)
c.5433G>A (p.Lys1811=)
c.5502G>A (p.Lys1834=)
c.5130G>A (p.Lys1710=)
c.5286G>A (p.Lys1762=)
c.5493G>A (p.Lys1831=)
c.4794G>A (p.Lys1598=)
c.5541G>A (p.Lys1847=)
dbSNP gnomAD v2 gnomAD v4
16g.3729501T>ACA394556047CREBBPc.5546A>T (p.Lys1849Met)
c.5432A>T (p.Lys1811Met)
c.5501A>T (p.Lys1834Met)
c.5129A>T (p.Lys1710Met)
c.5285A>T (p.Lys1762Met)
c.5492A>T (p.Lys1831Met)
c.4793A>T (p.Lys1598Met)
c.5540A>T (p.Lys1847Met)
dbSNP
16g.3729501T>CCA394556048CREBBPc.5546A>G (p.Lys1849Arg)
c.5432A>G (p.Lys1811Arg)
c.5501A>G (p.Lys1834Arg)
c.5129A>G (p.Lys1710Arg)
c.5285A>G (p.Lys1762Arg)
c.5492A>G (p.Lys1831Arg)
c.4793A>G (p.Lys1598Arg)
c.5540A>G (p.Lys1847Arg)
dbSNP
16g.3729501T>GCA394556049CREBBPc.5546A>C (p.Lys1849Thr)
c.5432A>C (p.Lys1811Thr)
c.5501A>C (p.Lys1834Thr)
c.5129A>C (p.Lys1710Thr)
c.5285A>C (p.Lys1762Thr)
c.5492A>C (p.Lys1831Thr)
c.4793A>C (p.Lys1598Thr)
c.5540A>C (p.Lys1847Thr)
dbSNP
16g.3729502T>ACA394556050CREBBPc.5545A>T (p.Lys1849Ter)
c.5431A>T (p.Lys1811Ter)
c.5500A>T (p.Lys1834Ter)
c.5128A>T (p.Lys1710Ter)
c.5284A>T (p.Lys1762Ter)
c.5491A>T (p.Lys1831Ter)
c.4792A>T (p.Lys1598Ter)
c.5539A>T (p.Lys1847Ter)
dbSNP COSMIC
16g.3729502T>CCA394556051CREBBPc.5545A>G (p.Lys1849Glu)
c.5431A>G (p.Lys1811Glu)
c.5500A>G (p.Lys1834Glu)
c.5128A>G (p.Lys1710Glu)
c.5284A>G (p.Lys1762Glu)
c.5491A>G (p.Lys1831Glu)
c.4792A>G (p.Lys1598Glu)
c.5539A>G (p.Lys1847Glu)
dbSNP
16g.3729502T>GCA394556052CREBBPc.5545A>C (p.Lys1849Gln)
c.5431A>C (p.Lys1811Gln)
c.5500A>C (p.Lys1834Gln)
c.5128A>C (p.Lys1710Gln)
c.5284A>C (p.Lys1762Gln)
c.5491A>C (p.Lys1831Gln)
c.4792A>C (p.Lys1598Gln)
c.5539A>C (p.Lys1847Gln)
gnomAD v4
16g.3729503G>ACA7869274CREBBPc.5544C>T (p.His1848=)
c.5430C>T (p.His1810=)
c.5499C>T (p.His1833=)
c.5127C>T (p.His1709=)
c.5283C>T (p.His1761=)
c.5490C>T (p.His1830=)
c.4791C>T (p.His1597=)
c.5538C>T (p.His1846=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729503G>CCA394556053CREBBPc.5544C>G (p.His1848Gln)
c.5430C>G (p.His1810Gln)
c.5499C>G (p.His1833Gln)
c.5127C>G (p.His1709Gln)
c.5283C>G (p.His1761Gln)
c.5490C>G (p.His1830Gln)
c.4791C>G (p.His1597Gln)
c.5538C>G (p.His1846Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729503G=CA2202916434CREBBPc.5544C= (p.His1848=)
c.5430C= (p.His1810=)
c.5499C= (p.His1833=)
c.5127C= (p.His1709=)
c.5283C= (p.His1761=)
c.5490C= (p.His1830=)
c.4791C= (p.His1597=)
c.5538C= (p.His1846=)
16g.3729503G>TCA394556054CREBBPc.5544C>A (p.His1848Gln)
c.5430C>A (p.His1810Gln)
c.5499C>A (p.His1833Gln)
c.5127C>A (p.His1709Gln)
c.5283C>A (p.His1761Gln)
c.5490C>A (p.His1830Gln)
c.4791C>A (p.His1597Gln)
c.5538C>A (p.His1846Gln)
dbSNP
16g.3729504T>ACA394556056CREBBPc.5543A>T (p.His1848Leu)
c.5429A>T (p.His1810Leu)
c.5498A>T (p.His1833Leu)
c.5126A>T (p.His1709Leu)
c.5282A>T (p.His1761Leu)
c.5489A>T (p.His1830Leu)
c.4790A>T (p.His1597Leu)
c.5537A>T (p.His1846Leu)
dbSNP
16g.3729504T>CCA394556057CREBBPc.5543A>G (p.His1848Arg)
c.5429A>G (p.His1810Arg)
c.5498A>G (p.His1833Arg)
c.5126A>G (p.His1709Arg)
c.5282A>G (p.His1761Arg)
c.5489A>G (p.His1830Arg)
c.4790A>G (p.His1597Arg)
c.5537A>G (p.His1846Arg)
dbSNP
16g.3729504T>GCA394556055CREBBPc.5543A>C (p.His1848Pro)
c.5429A>C (p.His1810Pro)
c.5498A>C (p.His1833Pro)
c.5126A>C (p.His1709Pro)
c.5282A>C (p.His1761Pro)
c.5489A>C (p.His1830Pro)
c.4790A>C (p.His1597Pro)
c.5537A>C (p.His1846Pro)
dbSNP
16g.3729505G>ACA394556058CREBBPc.5542C>T (p.His1848Tyr)
c.5428C>T (p.His1810Tyr)
c.5497C>T (p.His1833Tyr)
c.5125C>T (p.His1709Tyr)
c.5281C>T (p.His1761Tyr)
c.5488C>T (p.His1830Tyr)
c.4789C>T (p.His1597Tyr)
c.5536C>T (p.His1846Tyr)
dbSNP gnomAD v4
16g.3729505G>CCA394556059CREBBPc.5542C>G (p.His1848Asp)
c.5428C>G (p.His1810Asp)
c.5497C>G (p.His1833Asp)
c.5125C>G (p.His1709Asp)
c.5281C>G (p.His1761Asp)
c.5488C>G (p.His1830Asp)
c.4789C>G (p.His1597Asp)
c.5536C>G (p.His1846Asp)
16g.3729505G=CA2202916435CREBBPc.5542C= (p.His1848=)
c.5428C= (p.His1810=)
c.5497C= (p.His1833=)
c.5125C= (p.His1709=)
c.5281C= (p.His1761=)
c.5488C= (p.His1830=)
c.4789C= (p.His1597=)
c.5536C= (p.His1846=)
16g.3729505G>TCA394556060CREBBPc.5542C>A (p.His1848Asn)
c.5428C>A (p.His1810Asn)
c.5497C>A (p.His1833Asn)
c.5125C>A (p.His1709Asn)
c.5281C>A (p.His1761Asn)
c.5488C>A (p.His1830Asn)
c.4789C>A (p.His1597Asn)
c.5536C>A (p.His1846Asn)
16g.3729506T>ACA394556061CREBBPc.5541A>T (p.Lys1847Asn)
c.5427A>T (p.Lys1809Asn)
c.5496A>T (p.Lys1832Asn)
c.5124A>T (p.Lys1708Asn)
c.5280A>T (p.Lys1760Asn)
c.5487A>T (p.Lys1829Asn)
c.4788A>T (p.Lys1596Asn)
c.5535A>T (p.Lys1845Asn)
dbSNP
16g.3729506T>CCA493394084CREBBPc.5541A>G (p.Lys1847=)
c.5427A>G (p.Lys1809=)
c.5496A>G (p.Lys1832=)
c.5124A>G (p.Lys1708=)
c.5280A>G (p.Lys1760=)
c.5487A>G (p.Lys1829=)
c.4788A>G (p.Lys1596=)
c.5535A>G (p.Lys1845=)
16g.3729506T>GCA394556062CREBBPc.5541A>C (p.Lys1847Asn)
c.5427A>C (p.Lys1809Asn)
c.5496A>C (p.Lys1832Asn)
c.5124A>C (p.Lys1708Asn)
c.5280A>C (p.Lys1760Asn)
c.5487A>C (p.Lys1829Asn)
c.4788A>C (p.Lys1596Asn)
c.5535A>C (p.Lys1845Asn)
dbSNP
16g.3729507T>ACA394556063CREBBPc.5540A>T (p.Lys1847Ile)
c.5426A>T (p.Lys1809Ile)
c.5495A>T (p.Lys1832Ile)
c.5123A>T (p.Lys1708Ile)
c.5279A>T (p.Lys1760Ile)
c.5486A>T (p.Lys1829Ile)
c.4787A>T (p.Lys1596Ile)
c.5534A>T (p.Lys1845Ile)
dbSNP
16g.3729507T>CCA394556064CREBBPc.5540A>G (p.Lys1847Arg)
c.5426A>G (p.Lys1809Arg)
c.5495A>G (p.Lys1832Arg)
c.5123A>G (p.Lys1708Arg)
c.5279A>G (p.Lys1760Arg)
c.5486A>G (p.Lys1829Arg)
c.4787A>G (p.Lys1596Arg)
c.5534A>G (p.Lys1845Arg)
ClinVar dbSNP
16g.3729507T>GCA394556065CREBBPc.5540A>C (p.Lys1847Thr)
c.5426A>C (p.Lys1809Thr)
c.5495A>C (p.Lys1832Thr)
c.5123A>C (p.Lys1708Thr)
c.5279A>C (p.Lys1760Thr)
c.5486A>C (p.Lys1829Thr)
c.4787A>C (p.Lys1596Thr)
c.5534A>C (p.Lys1845Thr)
dbSNP
16g.3729508T>ACA394556066CREBBPc.5539A>T (p.Lys1847Ter)
c.5425A>T (p.Lys1809Ter)
c.5494A>T (p.Lys1832Ter)
c.5122A>T (p.Lys1708Ter)
c.5278A>T (p.Lys1760Ter)
c.5485A>T (p.Lys1829Ter)
c.4786A>T (p.Lys1596Ter)
c.5533A>T (p.Lys1845Ter)
dbSNP
16g.3729508T>CCA394556067CREBBPc.5539A>G (p.Lys1847Glu)
c.5425A>G (p.Lys1809Glu)
c.5494A>G (p.Lys1832Glu)
c.5122A>G (p.Lys1708Glu)
c.5278A>G (p.Lys1760Glu)
c.5485A>G (p.Lys1829Glu)
c.4786A>G (p.Lys1596Glu)
c.5533A>G (p.Lys1845Glu)
dbSNP
16g.3729508T>GCA394556068CREBBPc.5539A>C (p.Lys1847Gln)
c.5425A>C (p.Lys1809Gln)
c.5494A>C (p.Lys1832Gln)
c.5122A>C (p.Lys1708Gln)
c.5278A>C (p.Lys1760Gln)
c.5485A>C (p.Lys1829Gln)
c.4786A>C (p.Lys1596Gln)
c.5533A>C (p.Lys1845Gln)
16g.3729509G>ACA493394086CREBBPc.5538C>T (p.Ile1846=)
c.5424C>T (p.Ile1808=)
c.5493C>T (p.Ile1831=)
c.5121C>T (p.Ile1707=)
c.5277C>T (p.Ile1759=)
c.5484C>T (p.Ile1828=)
c.4785C>T (p.Ile1595=)
c.5532C>T (p.Ile1844=)
dbSNP
16g.3729509G>CCA394556069CREBBPc.5538C>G (p.Ile1846Met)
c.5424C>G (p.Ile1808Met)
c.5493C>G (p.Ile1831Met)
c.5121C>G (p.Ile1707Met)
c.5277C>G (p.Ile1759Met)
c.5484C>G (p.Ile1828Met)
c.4785C>G (p.Ile1595Met)
c.5532C>G (p.Ile1844Met)
dbSNP
16g.3729509G>TCA493394087CREBBPc.5538C>A (p.Ile1846=)
c.5424C>A (p.Ile1808=)
c.5493C>A (p.Ile1831=)
c.5121C>A (p.Ile1707=)
c.5277C>A (p.Ile1759=)
c.5484C>A (p.Ile1828=)
c.4785C>A (p.Ile1595=)
c.5532C>A (p.Ile1844=)
16g.3729510A>CCA394556072CREBBPc.5537T>G (p.Ile1846Ser)
c.5423T>G (p.Ile1808Ser)
c.5492T>G (p.Ile1831Ser)
c.5120T>G (p.Ile1707Ser)
c.5276T>G (p.Ile1759Ser)
c.5483T>G (p.Ile1828Ser)
c.4784T>G (p.Ile1595Ser)
c.5531T>G (p.Ile1844Ser)
16g.3729510A>GCA394556070CREBBPc.5537T>C (p.Ile1846Thr)
c.5423T>C (p.Ile1808Thr)
c.5492T>C (p.Ile1831Thr)
c.5120T>C (p.Ile1707Thr)
c.5276T>C (p.Ile1759Thr)
c.5483T>C (p.Ile1828Thr)
c.4784T>C (p.Ile1595Thr)
c.5531T>C (p.Ile1844Thr)
dbSNP
16g.3729510A>TCA394556071CREBBPc.5537T>A (p.Ile1846Asn)
c.5423T>A (p.Ile1808Asn)
c.5492T>A (p.Ile1831Asn)
c.5120T>A (p.Ile1707Asn)
c.5276T>A (p.Ile1759Asn)
c.5483T>A (p.Ile1828Asn)
c.4784T>A (p.Ile1595Asn)
c.5531T>A (p.Ile1844Asn)
dbSNP
16g.3729511T>ACA394556073CREBBPc.5536A>T (p.Ile1846Phe)
c.5422A>T (p.Ile1808Phe)
c.5491A>T (p.Ile1831Phe)
c.5119A>T (p.Ile1707Phe)
c.5275A>T (p.Ile1759Phe)
c.5482A>T (p.Ile1828Phe)
c.4783A>T (p.Ile1595Phe)
c.5530A>T (p.Ile1844Phe)
dbSNP
16g.3729511T>CCA394556074CREBBPc.5536A>G (p.Ile1846Val)
c.5422A>G (p.Ile1808Val)
c.5491A>G (p.Ile1831Val)
c.5119A>G (p.Ile1707Val)
c.5275A>G (p.Ile1759Val)
c.5482A>G (p.Ile1828Val)
c.4783A>G (p.Ile1595Val)
c.5530A>G (p.Ile1844Val)
16g.3729511T>GCA394556075CREBBPc.5536A>C (p.Ile1846Leu)
c.5422A>C (p.Ile1808Leu)
c.5491A>C (p.Ile1831Leu)
c.5119A>C (p.Ile1707Leu)
c.5275A>C (p.Ile1759Leu)
c.5482A>C (p.Ile1828Leu)
c.4783A>C (p.Ile1595Leu)
c.5530A>C (p.Ile1844Leu)
dbSNP
16g.3729512G>ACA493394092CREBBPc.5535C>T (p.Asn1845=)
c.5421C>T (p.Asn1807=)
c.5490C>T (p.Asn1830=)
c.5118C>T (p.Asn1706=)
c.5274C>T (p.Asn1758=)
c.5481C>T (p.Asn1827=)
c.4782C>T (p.Asn1594=)
c.5529C>T (p.Asn1843=)
16g.3729512G>CCA394556076CREBBPc.5535C>G (p.Asn1845Lys)
c.5421C>G (p.Asn1807Lys)
c.5490C>G (p.Asn1830Lys)
c.5118C>G (p.Asn1706Lys)
c.5274C>G (p.Asn1758Lys)
c.5481C>G (p.Asn1827Lys)
c.4782C>G (p.Asn1594Lys)
c.5529C>G (p.Asn1843Lys)
16g.3729512G>TCA394556077CREBBPc.5535C>A (p.Asn1845Lys)
c.5421C>A (p.Asn1807Lys)
c.5490C>A (p.Asn1830Lys)
c.5118C>A (p.Asn1706Lys)
c.5274C>A (p.Asn1758Lys)
c.5481C>A (p.Asn1827Lys)
c.4782C>A (p.Asn1594Lys)
c.5529C>A (p.Asn1843Lys)
16g.3729513T>ACA394556078CREBBPc.5534A>T (p.Asn1845Ile)
c.5420A>T (p.Asn1807Ile)
c.5489A>T (p.Asn1830Ile)
c.5117A>T (p.Asn1706Ile)
c.5273A>T (p.Asn1758Ile)
c.5480A>T (p.Asn1827Ile)
c.4781A>T (p.Asn1594Ile)
c.5528A>T (p.Asn1843Ile)
dbSNP
16g.3729513T>CCA394556079CREBBPc.5534A>G (p.Asn1845Ser)
c.5420A>G (p.Asn1807Ser)
c.5489A>G (p.Asn1830Ser)
c.5117A>G (p.Asn1706Ser)
c.5273A>G (p.Asn1758Ser)
c.5480A>G (p.Asn1827Ser)
c.4781A>G (p.Asn1594Ser)
c.5528A>G (p.Asn1843Ser)
dbSNP gnomAD v4
16g.3729513T>GCA394556080CREBBPc.5534A>C (p.Asn1845Thr)
c.5420A>C (p.Asn1807Thr)
c.5489A>C (p.Asn1830Thr)
c.5117A>C (p.Asn1706Thr)
c.5273A>C (p.Asn1758Thr)
c.5480A>C (p.Asn1827Thr)
c.4781A>C (p.Asn1594Thr)
c.5528A>C (p.Asn1843Thr)
dbSNP
16g.3729514T>ACA394556083CREBBPc.5533A>T (p.Asn1845Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5488A>T (p.Asn1830Tyr)
c.5116A>T (p.Asn1706Tyr)
c.5272A>T (p.Asn1758Tyr)
c.5479A>T (p.Asn1827Tyr)
c.4780A>T (p.Asn1594Tyr)
c.5527A>T (p.Asn1843Tyr)
dbSNP
16g.3729514T>CCA394556085CREBBPc.5533A>G (p.Asn1845Asp)
c.5419A>G (p.Asn1807Asp)
c.5488A>G (p.Asn1830Asp)
c.5116A>G (p.Asn1706Asp)
c.5272A>G (p.Asn1758Asp)
c.5479A>G (p.Asn1827Asp)
c.4780A>G (p.Asn1594Asp)
c.5527A>G (p.Asn1843Asp)
16g.3729514T>GCA394556087CREBBPc.5533A>C (p.Asn1845His)
c.5419A>C (p.Asn1807His)
c.5488A>C (p.Asn1830His)
c.5116A>C (p.Asn1706His)
c.5272A>C (p.Asn1758His)
c.5479A>C (p.Asn1827His)
c.4780A>C (p.Asn1594His)
c.5527A>C (p.Asn1843His)
16g.3729515G>ACA493394094CREBBPc.5532C>T (p.Leu1844=)
c.5418C>T (p.Leu1806=)
c.5487C>T (p.Leu1829=)
c.5115C>T (p.Leu1705=)
c.5271C>T (p.Leu1757=)
c.5478C>T (p.Leu1826=)
c.4779C>T (p.Leu1593=)
c.5526C>T (p.Leu1842=)
dbSNP
16g.3729515G>CCA493394095CREBBPc.5532C>G (p.Leu1844=)
c.5418C>G (p.Leu1806=)
c.5487C>G (p.Leu1829=)
c.5115C>G (p.Leu1705=)
c.5271C>G (p.Leu1757=)
c.5478C>G (p.Leu1826=)
c.4779C>G (p.Leu1593=)
c.5526C>G (p.Leu1842=)
dbSNP
16g.3729515G>TCA493394096CREBBPc.5532C>A (p.Leu1844=)
c.5418C>A (p.Leu1806=)
c.5487C>A (p.Leu1829=)
c.5115C>A (p.Leu1705=)
c.5271C>A (p.Leu1757=)
c.5478C>A (p.Leu1826=)
c.4779C>A (p.Leu1593=)
c.5526C>A (p.Leu1842=)
dbSNP
16g.3729516A>CCA394556093CREBBPc.5531T>G (p.Leu1844Arg)
c.5417T>G (p.Leu1806Arg)
c.5486T>G (p.Leu1829Arg)
c.5114T>G (p.Leu1705Arg)
c.5270T>G (p.Leu1757Arg)
c.5477T>G (p.Leu1826Arg)
c.4778T>G (p.Leu1593Arg)
c.5525T>G (p.Leu1842Arg)
16g.3729516A>GCA394556091CREBBPc.5531T>C (p.Leu1844Pro)
c.5417T>C (p.Leu1806Pro)
c.5486T>C (p.Leu1829Pro)
c.5114T>C (p.Leu1705Pro)
c.5270T>C (p.Leu1757Pro)
c.5477T>C (p.Leu1826Pro)
c.4778T>C (p.Leu1593Pro)
c.5525T>C (p.Leu1842Pro)
dbSNP
16g.3729516A>TCA394556090CREBBPc.5531T>A (p.Leu1844His)
c.5417T>A (p.Leu1806His)
c.5486T>A (p.Leu1829His)
c.5114T>A (p.Leu1705His)
c.5270T>A (p.Leu1757His)
c.5477T>A (p.Leu1826His)
c.4778T>A (p.Leu1593His)
c.5525T>A (p.Leu1842His)
dbSNP
16g.3729517G>ACA394556096CREBBPc.5530C>T (p.Leu1844Phe)
c.5416C>T (p.Leu1806Phe)
c.5485C>T (p.Leu1829Phe)
c.5113C>T (p.Leu1705Phe)
c.5269C>T (p.Leu1757Phe)
c.5476C>T (p.Leu1826Phe)
c.4777C>T (p.Leu1593Phe)
c.5524C>T (p.Leu1842Phe)
dbSNP
16g.3729517G>CCA394556098CREBBPc.5530C>G (p.Leu1844Val)
c.5416C>G (p.Leu1806Val)
c.5485C>G (p.Leu1829Val)
c.5113C>G (p.Leu1705Val)
c.5269C>G (p.Leu1757Val)
c.5476C>G (p.Leu1826Val)
c.4777C>G (p.Leu1593Val)
c.5524C>G (p.Leu1842Val)
dbSNP gnomAD v4
16g.3729517G>TCA394556097CREBBPc.5530C>A (p.Leu1844Ile)
c.5416C>A (p.Leu1806Ile)
c.5485C>A (p.Leu1829Ile)
c.5113C>A (p.Leu1705Ile)
c.5269C>A (p.Leu1757Ile)
c.5476C>A (p.Leu1826Ile)
c.4777C>A (p.Leu1593Ile)
c.5524C>A (p.Leu1842Ile)
dbSNP
16g.3729518G>ACA493394102CREBBPc.5529C>T (p.Cys1843=)
c.5415C>T (p.Cys1805=)
c.5484C>T (p.Cys1828=)
c.5112C>T (p.Cys1704=)
c.5268C>T (p.Cys1756=)
c.5475C>T (p.Cys1825=)
c.4776C>T (p.Cys1592=)
c.5523C>T (p.Cys1841=)
dbSNP gnomAD v3 gnomAD v4
16g.3729518G>CCA394556100CREBBPc.5529C>G (p.Cys1843Trp)
c.5415C>G (p.Cys1805Trp)
c.5484C>G (p.Cys1828Trp)
c.5112C>G (p.Cys1704Trp)
c.5268C>G (p.Cys1756Trp)
c.5475C>G (p.Cys1825Trp)
c.4776C>G (p.Cys1592Trp)
c.5523C>G (p.Cys1841Trp)
dbSNP
16g.3729518G=CA2202916436CREBBPc.5529C= (p.Cys1843=)
c.5415C= (p.Cys1805=)
c.5484C= (p.Cys1828=)
c.5112C= (p.Cys1704=)
c.5268C= (p.Cys1756=)
c.5475C= (p.Cys1825=)
c.4776C= (p.Cys1592=)
c.5523C= (p.Cys1841=)
16g.3729518G>TCA394556102CREBBPc.5529C>A (p.Cys1843Ter)
c.5415C>A (p.Cys1805Ter)
c.5484C>A (p.Cys1828Ter)
c.5112C>A (p.Cys1704Ter)
c.5268C>A (p.Cys1756Ter)
c.5475C>A (p.Cys1825Ter)
c.4776C>A (p.Cys1592Ter)
c.5523C>A (p.Cys1841Ter)
dbSNP
16g.3729519C>ACA394556103CREBBPc.5528G>T (p.Cys1843Phe)
c.5414G>T (p.Cys1805Phe)
c.5483G>T (p.Cys1828Phe)
c.5111G>T (p.Cys1704Phe)
c.5267G>T (p.Cys1756Phe)
c.5474G>T (p.Cys1825Phe)
c.4775G>T (p.Cys1592Phe)
c.5522G>T (p.Cys1841Phe)
dbSNP
16g.3729519C>GCA394556104CREBBPc.5528G>C (p.Cys1843Ser)
c.5414G>C (p.Cys1805Ser)
c.5483G>C (p.Cys1828Ser)
c.5111G>C (p.Cys1704Ser)
c.5267G>C (p.Cys1756Ser)
c.5474G>C (p.Cys1825Ser)
c.4775G>C (p.Cys1592Ser)
c.5522G>C (p.Cys1841Ser)
dbSNP
16g.3729519C>TCA394556106CREBBPc.5528G>A (p.Cys1843Tyr)
c.5414G>A (p.Cys1805Tyr)
c.5483G>A (p.Cys1828Tyr)
c.5111G>A (p.Cys1704Tyr)
c.5267G>A (p.Cys1756Tyr)
c.5474G>A (p.Cys1825Tyr)
c.4775G>A (p.Cys1592Tyr)
c.5522G>A (p.Cys1841Tyr)
dbSNP
16g.3729520A>CCA394556109CREBBPc.5527T>G (p.Cys1843Gly)
c.5413T>G (p.Cys1805Gly)
c.5482T>G (p.Cys1828Gly)
c.5110T>G (p.Cys1704Gly)
c.5266T>G (p.Cys1756Gly)
c.5473T>G (p.Cys1825Gly)
c.4774T>G (p.Cys1592Gly)
c.5521T>G (p.Cys1841Gly)
16g.3729520A>GCA394556110CREBBPc.5527T>C (p.Cys1843Arg)
c.5413T>C (p.Cys1805Arg)
c.5482T>C (p.Cys1828Arg)
c.5110T>C (p.Cys1704Arg)
c.5266T>C (p.Cys1756Arg)
c.5473T>C (p.Cys1825Arg)
c.4774T>C (p.Cys1592Arg)
c.5521T>C (p.Cys1841Arg)
dbSNP
16g.3729520A>TCA394556113CREBBPc.5527T>A (p.Cys1843Ser)
c.5413T>A (p.Cys1805Ser)
c.5482T>A (p.Cys1828Ser)
c.5110T>A (p.Cys1704Ser)
c.5266T>A (p.Cys1756Ser)
c.5473T>A (p.Cys1825Ser)
c.4774T>A (p.Cys1592Ser)
c.5521T>A (p.Cys1841Ser)
16g.3729521G>ACA493394104CREBBPc.5526C>T (p.Phe1842=)
c.5412C>T (p.Phe1804=)
c.5481C>T (p.Phe1827=)
c.5109C>T (p.Phe1703=)
c.5265C>T (p.Phe1755=)
c.5472C>T (p.Phe1824=)
c.4773C>T (p.Phe1591=)
c.5520C>T (p.Phe1840=)
16g.3729521G>CCA394556115CREBBPc.5526C>G (p.Phe1842Leu)
c.5412C>G (p.Phe1804Leu)
c.5481C>G (p.Phe1827Leu)
c.5109C>G (p.Phe1703Leu)
c.5265C>G (p.Phe1755Leu)
c.5472C>G (p.Phe1824Leu)
c.4773C>G (p.Phe1591Leu)
c.5520C>G (p.Phe1840Leu)
16g.3729521G>TCA394556116CREBBPc.5526C>A (p.Phe1842Leu)
c.5412C>A (p.Phe1804Leu)
c.5481C>A (p.Phe1827Leu)
c.5109C>A (p.Phe1703Leu)
c.5265C>A (p.Phe1755Leu)
c.5472C>A (p.Phe1824Leu)
c.4773C>A (p.Phe1591Leu)
c.5520C>A (p.Phe1840Leu)
16g.3729522A>CCA394556117CREBBPc.5525T>G (p.Phe1842Cys)
c.5411T>G (p.Phe1804Cys)
c.5480T>G (p.Phe1827Cys)
c.5108T>G (p.Phe1703Cys)
c.5264T>G (p.Phe1755Cys)
c.5471T>G (p.Phe1824Cys)
c.4772T>G (p.Phe1591Cys)
c.5519T>G (p.Phe1840Cys)
16g.3729522A>GCA394556118CREBBPc.5525T>C (p.Phe1842Ser)
c.5411T>C (p.Phe1804Ser)
c.5480T>C (p.Phe1827Ser)
c.5108T>C (p.Phe1703Ser)
c.5264T>C (p.Phe1755Ser)
c.5471T>C (p.Phe1824Ser)
c.4772T>C (p.Phe1591Ser)
c.5519T>C (p.Phe1840Ser)
dbSNP
16g.3729522A>TCA394556119CREBBPc.5525T>A (p.Phe1842Tyr)
c.5411T>A (p.Phe1804Tyr)
c.5480T>A (p.Phe1827Tyr)
c.5108T>A (p.Phe1703Tyr)
c.5264T>A (p.Phe1755Tyr)
c.5471T>A (p.Phe1824Tyr)
c.4772T>A (p.Phe1591Tyr)
c.5519T>A (p.Phe1840Tyr)
dbSNP
16g.3729523A>CCA394556122CREBBPc.5524T>G (p.Phe1842Val)
c.5410T>G (p.Phe1804Val)
c.5479T>G (p.Phe1827Val)
c.5107T>G (p.Phe1703Val)
c.5263T>G (p.Phe1755Val)
c.5470T>G (p.Phe1824Val)
c.4771T>G (p.Phe1591Val)
c.5518T>G (p.Phe1840Val)
16g.3729523A>GCA394556121CREBBPc.5524T>C (p.Phe1842Leu)
c.5410T>C (p.Phe1804Leu)
c.5479T>C (p.Phe1827Leu)
c.5107T>C (p.Phe1703Leu)
c.5263T>C (p.Phe1755Leu)
c.5470T>C (p.Phe1824Leu)
c.4771T>C (p.Phe1591Leu)
c.5518T>C (p.Phe1840Leu)
16g.3729523A>TCA394556120CREBBPc.5524T>A (p.Phe1842Ile)
c.5410T>A (p.Phe1804Ile)
c.5479T>A (p.Phe1827Ile)
c.5107T>A (p.Phe1703Ile)
c.5263T>A (p.Phe1755Ile)
c.5470T>A (p.Phe1824Ile)
c.4771T>A (p.Phe1591Ile)
c.5518T>A (p.Phe1840Ile)
16g.3729524G>ACA493394109CREBBPc.5523C>T (p.Pro1841=)
c.5409C>T (p.Pro1803=)
c.5478C>T (p.Pro1826=)
c.5106C>T (p.Pro1702=)
c.5262C>T (p.Pro1754=)
c.5469C>T (p.Pro1823=)
c.4770C>T (p.Pro1590=)
c.5517C>T (p.Pro1839=)
dbSNP gnomAD v4
16g.3729524G>CCA493394108CREBBPc.5523C>G (p.Pro1841=)
c.5409C>G (p.Pro1803=)
c.5478C>G (p.Pro1826=)
c.5106C>G (p.Pro1702=)
c.5262C>G (p.Pro1754=)
c.5469C>G (p.Pro1823=)
c.4770C>G (p.Pro1590=)
c.5517C>G (p.Pro1839=)
16g.3729524G>TCA493394110CREBBPc.5523C>A (p.Pro1841=)
c.5409C>A (p.Pro1803=)
c.5478C>A (p.Pro1826=)
c.5106C>A (p.Pro1702=)
c.5262C>A (p.Pro1754=)
c.5469C>A (p.Pro1823=)
c.4770C>A (p.Pro1590=)
c.5517C>A (p.Pro1839=)
dbSNP
16g.3729525G>ACA394556123CREBBPc.5522C>T (p.Pro1841Leu)
c.5408C>T (p.Pro1803Leu)
c.5477C>T (p.Pro1826Leu)
c.5105C>T (p.Pro1702Leu)
c.5261C>T (p.Pro1754Leu)
c.5468C>T (p.Pro1823Leu)
c.4769C>T (p.Pro1590Leu)
c.5516C>T (p.Pro1839Leu)
dbSNP
16g.3729525G>CCA394556124CREBBPc.5522C>G (p.Pro1841Arg)
c.5408C>G (p.Pro1803Arg)
c.5477C>G (p.Pro1826Arg)
c.5105C>G (p.Pro1702Arg)
c.5261C>G (p.Pro1754Arg)
c.5468C>G (p.Pro1823Arg)
c.4769C>G (p.Pro1590Arg)
c.5516C>G (p.Pro1839Arg)
dbSNP
16g.3729525G>TCA394556125CREBBPc.5522C>A (p.Pro1841His)
c.5408C>A (p.Pro1803His)
c.5477C>A (p.Pro1826His)
c.5105C>A (p.Pro1702His)
c.5261C>A (p.Pro1754His)
c.5468C>A (p.Pro1823His)
c.4769C>A (p.Pro1590His)
c.5516C>A (p.Pro1839His)
dbSNP
16g.3729526G>ACA394556126CREBBPc.5521C>T (p.Pro1841Ser)
c.5407C>T (p.Pro1803Ser)
c.5476C>T (p.Pro1826Ser)
c.5104C>T (p.Pro1702Ser)
c.5260C>T (p.Pro1754Ser)
c.5467C>T (p.Pro1823Ser)
c.4768C>T (p.Pro1590Ser)
c.5515C>T (p.Pro1839Ser)
dbSNP
16g.3729526G>CCA394556127CREBBPc.5521C>G (p.Pro1841Ala)
c.5407C>G (p.Pro1803Ala)
c.5476C>G (p.Pro1826Ala)
c.5104C>G (p.Pro1702Ala)
c.5260C>G (p.Pro1754Ala)
c.5467C>G (p.Pro1823Ala)
c.4768C>G (p.Pro1590Ala)
c.5515C>G (p.Pro1839Ala)
dbSNP
16g.3729526G>TCA394556128CREBBPc.5521C>A (p.Pro1841Thr)
c.5407C>A (p.Pro1803Thr)
c.5476C>A (p.Pro1826Thr)
c.5104C>A (p.Pro1702Thr)
c.5260C>A (p.Pro1754Thr)
c.5467C>A (p.Pro1823Thr)
c.4768C>A (p.Pro1590Thr)
c.5515C>A (p.Pro1839Thr)
16g.3729527C>ACA493394113CREBBPc.5520G>T (p.Val1840=)
c.5406G>T (p.Val1802=)
c.5475G>T (p.Val1825=)
c.5103G>T (p.Val1701=)
c.5259G>T (p.Val1753=)
c.5466G>T (p.Val1822=)
c.4767G>T (p.Val1589=)
c.5514G>T (p.Val1838=)
16g.3729527C>GCA493394114CREBBPc.5520G>C (p.Val1840=)
c.5406G>C (p.Val1802=)
c.5475G>C (p.Val1825=)
c.5103G>C (p.Val1701=)
c.5259G>C (p.Val1753=)
c.5466G>C (p.Val1822=)
c.4767G>C (p.Val1589=)
c.5514G>C (p.Val1838=)
16g.3729527C>TCA493394115CREBBPc.5520G>A (p.Val1840=)
c.5406G>A (p.Val1802=)
c.5475G>A (p.Val1825=)
c.5103G>A (p.Val1701=)
c.5259G>A (p.Val1753=)
c.5466G>A (p.Val1822=)
c.4767G>A (p.Val1589=)
c.5514G>A (p.Val1838=)
16g.3729528A>CCA394556129CREBBPc.5519T>G (p.Val1840Gly)
c.5405T>G (p.Val1802Gly)
c.5474T>G (p.Val1825Gly)
c.5102T>G (p.Val1701Gly)
c.5258T>G (p.Val1753Gly)
c.5465T>G (p.Val1822Gly)
c.4766T>G (p.Val1589Gly)
c.5513T>G (p.Val1838Gly)
dbSNP
16g.3729528A>GCA394556130CREBBPc.5519T>C (p.Val1840Ala)
c.5405T>C (p.Val1802Ala)
c.5474T>C (p.Val1825Ala)
c.5102T>C (p.Val1701Ala)
c.5258T>C (p.Val1753Ala)
c.5465T>C (p.Val1822Ala)
c.4766T>C (p.Val1589Ala)
c.5513T>C (p.Val1838Ala)
dbSNP
16g.3729528A>TCA394556131CREBBPc.5519T>A (p.Val1840Glu)
c.5405T>A (p.Val1802Glu)
c.5474T>A (p.Val1825Glu)
c.5102T>A (p.Val1701Glu)
c.5258T>A (p.Val1753Glu)
c.5465T>A (p.Val1822Glu)
c.4766T>A (p.Val1589Glu)
c.5513T>A (p.Val1838Glu)
dbSNP
16g.3729529C>ACA394556132CREBBPc.5518G>T (p.Val1840Leu)
c.5404G>T (p.Val1802Leu)
c.5473G>T (p.Val1825Leu)
c.5101G>T (p.Val1701Leu)
c.5257G>T (p.Val1753Leu)
c.5464G>T (p.Val1822Leu)
c.4765G>T (p.Val1589Leu)
c.5512G>T (p.Val1838Leu)
ClinVar dbSNP
16g.3729529C=CA2202916437CREBBPc.5518G= (p.Val1840=)
c.5404G= (p.Val1802=)
c.5473G= (p.Val1825=)
c.5101G= (p.Val1701=)
c.5257G= (p.Val1753=)
c.5464G= (p.Val1822=)
c.4765G= (p.Val1589=)
c.5512G= (p.Val1838=)
16g.3729529C>GCA394556133CREBBPc.5518G>C (p.Val1840Leu)
c.5404G>C (p.Val1802Leu)
c.5473G>C (p.Val1825Leu)
c.5101G>C (p.Val1701Leu)
c.5257G>C (p.Val1753Leu)
c.5464G>C (p.Val1822Leu)
c.4765G>C (p.Val1589Leu)
c.5512G>C (p.Val1838Leu)
16g.3729529C>TCA394556134CREBBPc.5518G>A (p.Val1840Met)
c.5404G>A (p.Val1802Met)
c.5473G>A (p.Val1825Met)
c.5101G>A (p.Val1701Met)
c.5257G>A (p.Val1753Met)
c.5464G>A (p.Val1822Met)
c.4765G>A (p.Val1589Met)
c.5512G>A (p.Val1838Met)
gnomAD v4
16g.3729530G>ACA243763CREBBPc.5517C>T (p.Pro1839=)
c.5403C>T (p.Pro1801=)
c.5472C>T (p.Pro1824=)
c.5100C>T (p.Pro1700=)
c.5256C>T (p.Pro1752=)
c.5463C>T (p.Pro1821=)
c.4764C>T (p.Pro1588=)
c.5511C>T (p.Pro1837=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729530G>CCA493394119CREBBPc.5517C>G (p.Pro1839=)
c.5403C>G (p.Pro1801=)
c.5472C>G (p.Pro1824=)
c.5100C>G (p.Pro1700=)
c.5256C>G (p.Pro1752=)
c.5463C>G (p.Pro1821=)
c.4764C>G (p.Pro1588=)
c.5511C>G (p.Pro1837=)
dbSNP
16g.3729530G=CA2202916438CREBBPc.5517C= (p.Pro1839=)
c.5403C= (p.Pro1801=)
c.5472C= (p.Pro1824=)
c.5100C= (p.Pro1700=)
c.5256C= (p.Pro1752=)
c.5463C= (p.Pro1821=)
c.4764C= (p.Pro1588=)
c.5511C= (p.Pro1837=)
16g.3729530G>TCA493394120CREBBPc.5517C>A (p.Pro1839=)
c.5403C>A (p.Pro1801=)
c.5472C>A (p.Pro1824=)
c.5100C>A (p.Pro1700=)
c.5256C>A (p.Pro1752=)
c.5463C>A (p.Pro1821=)
c.4764C>A (p.Pro1588=)
c.5511C>A (p.Pro1837=)
dbSNP
16g.3729531G>ACA394556137CREBBPc.5516C>T (p.Pro1839Leu)
c.5402C>T (p.Pro1801Leu)
c.5471C>T (p.Pro1824Leu)
c.5099C>T (p.Pro1700Leu)
c.5255C>T (p.Pro1752Leu)
c.5462C>T (p.Pro1821Leu)
c.4763C>T (p.Pro1588Leu)
c.5510C>T (p.Pro1837Leu)
dbSNP
16g.3729531G>CCA394556135CREBBPc.5516C>G (p.Pro1839Arg)
c.5402C>G (p.Pro1801Arg)
c.5471C>G (p.Pro1824Arg)
c.5099C>G (p.Pro1700Arg)
c.5255C>G (p.Pro1752Arg)
c.5462C>G (p.Pro1821Arg)
c.4763C>G (p.Pro1588Arg)
c.5510C>G (p.Pro1837Arg)
dbSNP
16g.3729531G=CA2202916439CREBBPc.5516C= (p.Pro1839=)
c.5402C= (p.Pro1801=)
c.5471C= (p.Pro1824=)
c.5099C= (p.Pro1700=)
c.5255C= (p.Pro1752=)
c.5462C= (p.Pro1821=)
c.4763C= (p.Pro1588=)
c.5510C= (p.Pro1837=)
16g.3729531G>TCA394556136CREBBPc.5516C>A (p.Pro1839His)
c.5402C>A (p.Pro1801His)
c.5471C>A (p.Pro1824His)
c.5099C>A (p.Pro1700His)
c.5255C>A (p.Pro1752His)
c.5462C>A (p.Pro1821His)
c.4763C>A (p.Pro1588His)
c.5510C>A (p.Pro1837His)
dbSNP
16g.3729531_3729532insCCAACA2202916440CREBBPc.5515_5516insTTGG (p.Pro1839LeufsTer?)
c.5401_5402insTTGG (p.Pro1801LeufsTer?)
c.5470_5471insTTGG (p.Pro1824LeufsTer?)
c.5098_5099insTTGG (p.Pro1700LeufsTer?)
c.5254_5255insTTGG (p.Pro1752LeufsTer?)
c.5461_5462insTTGG (p.Pro1821LeufsTer?)
c.4762_4763insTTGG (p.Pro1588LeufsTer?)
c.5509_5510insTTGG (p.Pro1837LeufsTer?)
dbSNP
16g.3729532G>ACA394556138CREBBPc.5515C>T (p.Pro1839Ser)
c.5401C>T (p.Pro1801Ser)
c.5470C>T (p.Pro1824Ser)
c.5098C>T (p.Pro1700Ser)
c.5254C>T (p.Pro1752Ser)
c.5461C>T (p.Pro1821Ser)
c.4762C>T (p.Pro1588Ser)
c.5509C>T (p.Pro1837Ser)
dbSNP gnomAD v4
16g.3729532G>CCA394556139CREBBPc.5515C>G (p.Pro1839Ala)
c.5401C>G (p.Pro1801Ala)
c.5470C>G (p.Pro1824Ala)
c.5098C>G (p.Pro1700Ala)
c.5254C>G (p.Pro1752Ala)
c.5461C>G (p.Pro1821Ala)
c.4762C>G (p.Pro1588Ala)
c.5509C>G (p.Pro1837Ala)
dbSNP
16g.3729532G=CA2202916441CREBBPc.5515C= (p.Pro1839=)
c.5401C= (p.Pro1801=)
c.5470C= (p.Pro1824=)
c.5098C= (p.Pro1700=)
c.5254C= (p.Pro1752=)
c.5461C= (p.Pro1821=)
c.4762C= (p.Pro1588=)
c.5509C= (p.Pro1837=)
16g.3729532G>TCA394556140CREBBPc.5515C>A (p.Pro1839Thr)
c.5401C>A (p.Pro1801Thr)
c.5470C>A (p.Pro1824Thr)
c.5098C>A (p.Pro1700Thr)
c.5254C>A (p.Pro1752Thr)
c.5461C>A (p.Pro1821Thr)
c.4762C>A (p.Pro1588Thr)
c.5509C>A (p.Pro1837Thr)
dbSNP
16g.3729532_3729533insAAAACAAATCA2202916442CREBBPc.5514_5515insATTTGTTTT (p.Cys1838_Pro1839insIleCysPhe)
c.5400_5401insATTTGTTTT (p.Cys1800_Pro1801insIleCysPhe)
c.5469_5470insATTTGTTTT (p.Cys1823_Pro1824insIleCysPhe)
c.5097_5098insATTTGTTTT (p.Cys1699_Pro1700insIleCysPhe)
c.5253_5254insATTTGTTTT (p.Cys1751_Pro1752insIleCysPhe)
c.5460_5461insATTTGTTTT (p.Cys1820_Pro1821insIleCysPhe)
c.4761_4762insATTTGTTTT (p.Cys1587_Pro1588insIleCysPhe)
c.5508_5509insATTTGTTTT (p.Cys1836_Pro1837insIleCysPhe)
dbSNP
16g.3729533G>ACA493394274CREBBPc.5514C>T (p.Cys1838=)
c.5400C>T (p.Cys1800=)
c.5469C>T (p.Cys1823=)
c.5097C>T (p.Cys1699=)
c.5253C>T (p.Cys1751=)
c.5460C>T (p.Cys1820=)
c.4761C>T (p.Cys1587=)
c.5508C>T (p.Cys1836=)
dbSNP
16g.3729533G>CCA394556141CREBBPc.5514C>G (p.Cys1838Trp)
c.5400C>G (p.Cys1800Trp)
c.5469C>G (p.Cys1823Trp)
c.5097C>G (p.Cys1699Trp)
c.5253C>G (p.Cys1751Trp)
c.5460C>G (p.Cys1820Trp)
c.4761C>G (p.Cys1587Trp)
c.5508C>G (p.Cys1836Trp)
dbSNP
16g.3729533G>TCA394556142CREBBPc.5514C>A (p.Cys1838Ter)
c.5400C>A (p.Cys1800Ter)
c.5469C>A (p.Cys1823Ter)
c.5097C>A (p.Cys1699Ter)
c.5253C>A (p.Cys1751Ter)
c.5460C>A (p.Cys1820Ter)
c.4761C>A (p.Cys1587Ter)
c.5508C>A (p.Cys1836Ter)
dbSNP
16g.3729534C>ACA394556143CREBBPc.5513G>T (p.Cys1838Phe)
c.5399G>T (p.Cys1800Phe)
c.5468G>T (p.Cys1823Phe)
c.5096G>T (p.Cys1699Phe)
c.5252G>T (p.Cys1751Phe)
c.5459G>T (p.Cys1820Phe)
c.4760G>T (p.Cys1587Phe)
c.5507G>T (p.Cys1836Phe)
dbSNP
16g.3729534C=CA2202916443CREBBPc.5513G= (p.Cys1838=)
c.5399G= (p.Cys1800=)
c.5468G= (p.Cys1823=)
c.5096G= (p.Cys1699=)
c.5252G= (p.Cys1751=)
c.5459G= (p.Cys1820=)
c.4760G= (p.Cys1587=)
c.5507G= (p.Cys1836=)
16g.3729534C>GCA394556144CREBBPc.5513G>C (p.Cys1838Ser)
c.5399G>C (p.Cys1800Ser)
c.5468G>C (p.Cys1823Ser)
c.5096G>C (p.Cys1699Ser)
c.5252G>C (p.Cys1751Ser)
c.5459G>C (p.Cys1820Ser)
c.4760G>C (p.Cys1587Ser)
c.5507G>C (p.Cys1836Ser)
dbSNP
16g.3729534C>TCA394556145CREBBPc.5513G>A (p.Cys1838Tyr)
c.5399G>A (p.Cys1800Tyr)
c.5468G>A (p.Cys1823Tyr)
c.5096G>A (p.Cys1699Tyr)
c.5252G>A (p.Cys1751Tyr)
c.5459G>A (p.Cys1820Tyr)
c.4760G>A (p.Cys1587Tyr)
c.5507G>A (p.Cys1836Tyr)
ClinVar dbSNP
16g.3729535A>CCA394556146CREBBPc.5512T>G (p.Cys1838Gly)
c.5398T>G (p.Cys1800Gly)
c.5467T>G (p.Cys1823Gly)
c.5095T>G (p.Cys1699Gly)
c.5251T>G (p.Cys1751Gly)
c.5458T>G (p.Cys1820Gly)
c.4759T>G (p.Cys1587Gly)
c.5506T>G (p.Cys1836Gly)
16g.3729535A>GCA394556147CREBBPc.5512T>C (p.Cys1838Arg)
c.5398T>C (p.Cys1800Arg)
c.5467T>C (p.Cys1823Arg)
c.5095T>C (p.Cys1699Arg)
c.5251T>C (p.Cys1751Arg)
c.5458T>C (p.Cys1820Arg)
c.4759T>C (p.Cys1587Arg)
c.5506T>C (p.Cys1836Arg)
16g.3729535A>TCA394556148CREBBPc.5512T>A (p.Cys1838Ser)
c.5398T>A (p.Cys1800Ser)
c.5467T>A (p.Cys1823Ser)
c.5095T>A (p.Cys1699Ser)
c.5251T>A (p.Cys1751Ser)
c.5458T>A (p.Cys1820Ser)
c.4759T>A (p.Cys1587Ser)
c.5506T>A (p.Cys1836Ser)
16g.3729536T>ACA394556149CREBBPc.5511A>T (p.Lys1837Asn)
c.5397A>T (p.Lys1799Asn)
c.5466A>T (p.Lys1822Asn)
c.5094A>T (p.Lys1698Asn)
c.5250A>T (p.Lys1750Asn)
c.5457A>T (p.Lys1819Asn)
c.4758A>T (p.Lys1586Asn)
c.5505A>T (p.Lys1835Asn)
dbSNP
16g.3729536T>CCA493394278CREBBPc.5511A>G (p.Lys1837=)
c.5397A>G (p.Lys1799=)
c.5466A>G (p.Lys1822=)
c.5094A>G (p.Lys1698=)
c.5250A>G (p.Lys1750=)
c.5457A>G (p.Lys1819=)
c.4758A>G (p.Lys1586=)
c.5505A>G (p.Lys1835=)
dbSNP
16g.3729536T>GCA394556150CREBBPc.5511A>C (p.Lys1837Asn)
c.5397A>C (p.Lys1799Asn)
c.5466A>C (p.Lys1822Asn)
c.5094A>C (p.Lys1698Asn)
c.5250A>C (p.Lys1750Asn)
c.5457A>C (p.Lys1819Asn)
c.4758A>C (p.Lys1586Asn)
c.5505A>C (p.Lys1835Asn)
dbSNP
16g.3729537T>ACA394556151CREBBPc.5510A>T (p.Lys1837Ile)
c.5396A>T (p.Lys1799Ile)
c.5465A>T (p.Lys1822Ile)
c.5093A>T (p.Lys1698Ile)
c.5249A>T (p.Lys1750Ile)
c.5456A>T (p.Lys1819Ile)
c.4757A>T (p.Lys1586Ile)
c.5504A>T (p.Lys1835Ile)
dbSNP
16g.3729537T>CCA394556152CREBBPc.5510A>G (p.Lys1837Arg)
c.5396A>G (p.Lys1799Arg)
c.5465A>G (p.Lys1822Arg)
c.5093A>G (p.Lys1698Arg)
c.5249A>G (p.Lys1750Arg)
c.5456A>G (p.Lys1819Arg)
c.4757A>G (p.Lys1586Arg)
c.5504A>G (p.Lys1835Arg)
dbSNP
16g.3729537T>GCA394556153CREBBPc.5510A>C (p.Lys1837Thr)
c.5396A>C (p.Lys1799Thr)
c.5465A>C (p.Lys1822Thr)
c.5093A>C (p.Lys1698Thr)
c.5249A>C (p.Lys1750Thr)
c.5456A>C (p.Lys1819Thr)
c.4757A>C (p.Lys1586Thr)
c.5504A>C (p.Lys1835Thr)
dbSNP
16g.3729538T>ACA394556154CREBBPc.5509A>T (p.Lys1837Ter)
c.5395A>T (p.Lys1799Ter)
c.5464A>T (p.Lys1822Ter)
c.5092A>T (p.Lys1698Ter)
c.5248A>T (p.Lys1750Ter)
c.5455A>T (p.Lys1819Ter)
c.4756A>T (p.Lys1586Ter)
c.5503A>T (p.Lys1835Ter)
16g.3729538T>CCA394556155CREBBPc.5509A>G (p.Lys1837Glu)
c.5395A>G (p.Lys1799Glu)
c.5464A>G (p.Lys1822Glu)
c.5092A>G (p.Lys1698Glu)
c.5248A>G (p.Lys1750Glu)
c.5455A>G (p.Lys1819Glu)
c.4756A>G (p.Lys1586Glu)
c.5503A>G (p.Lys1835Glu)
dbSNP
16g.3729538T>GCA394556156CREBBPc.5509A>C (p.Lys1837Gln)
c.5395A>C (p.Lys1799Gln)
c.5464A>C (p.Lys1822Gln)
c.5092A>C (p.Lys1698Gln)
c.5248A>C (p.Lys1750Gln)
c.5455A>C (p.Lys1819Gln)
c.4756A>C (p.Lys1586Gln)
c.5503A>C (p.Lys1835Gln)
16g.3729539G>ACA493394283CREBBPc.5508C>T (p.Asn1836=)
c.5394C>T (p.Asn1798=)
c.5463C>T (p.Asn1821=)
c.5091C>T (p.Asn1697=)
c.5247C>T (p.Asn1749=)
c.5454C>T (p.Asn1818=)
c.4755C>T (p.Asn1585=)
c.5502C>T (p.Asn1834=)
dbSNP gnomAD v2 gnomAD v4
16g.3729539G>CCA394556157CREBBPc.5508C>G (p.Asn1836Lys)
c.5394C>G (p.Asn1798Lys)
c.5463C>G (p.Asn1821Lys)
c.5091C>G (p.Asn1697Lys)
c.5247C>G (p.Asn1749Lys)
c.5454C>G (p.Asn1818Lys)
c.4755C>G (p.Asn1585Lys)
c.5502C>G (p.Asn1834Lys)
16g.3729539G=CA2202916444CREBBPc.5508C= (p.Asn1836=)
c.5394C= (p.Asn1798=)
c.5463C= (p.Asn1821=)
c.5091C= (p.Asn1697=)
c.5247C= (p.Asn1749=)
c.5454C= (p.Asn1818=)
c.4755C= (p.Asn1585=)
c.5502C= (p.Asn1834=)
16g.3729539G>TCA394556158CREBBPc.5508C>A (p.Asn1836Lys)
c.5394C>A (p.Asn1798Lys)
c.5463C>A (p.Asn1821Lys)
c.5091C>A (p.Asn1697Lys)
c.5247C>A (p.Asn1749Lys)
c.5454C>A (p.Asn1818Lys)
c.4755C>A (p.Asn1585Lys)
c.5502C>A (p.Asn1834Lys)
16g.3729540T>ACA394556159CREBBPc.5507A>T (p.Asn1836Ile)
c.5393A>T (p.Asn1798Ile)
c.5462A>T (p.Asn1821Ile)
c.5090A>T (p.Asn1697Ile)
c.5246A>T (p.Asn1749Ile)
c.5453A>T (p.Asn1818Ile)
c.4754A>T (p.Asn1585Ile)
c.5501A>T (p.Asn1834Ile)
dbSNP
16g.3729540T>CCA394556160CREBBPc.5507A>G (p.Asn1836Ser)
c.5393A>G (p.Asn1798Ser)
c.5462A>G (p.Asn1821Ser)
c.5090A>G (p.Asn1697Ser)
c.5246A>G (p.Asn1749Ser)
c.5453A>G (p.Asn1818Ser)
c.4754A>G (p.Asn1585Ser)
c.5501A>G (p.Asn1834Ser)
dbSNP gnomAD v2
16g.3729540T>GCA394556161CREBBPc.5507A>C (p.Asn1836Thr)
c.5393A>C (p.Asn1798Thr)
c.5462A>C (p.Asn1821Thr)
c.5090A>C (p.Asn1697Thr)
c.5246A>C (p.Asn1749Thr)
c.5453A>C (p.Asn1818Thr)
c.4754A>C (p.Asn1585Thr)
c.5501A>C (p.Asn1834Thr)
dbSNP
16g.3729540T=CA2202916445CREBBPc.5507A= (p.Asn1836=)
c.5393A= (p.Asn1798=)
c.5462A= (p.Asn1821=)
c.5090A= (p.Asn1697=)
c.5246A= (p.Asn1749=)
c.5453A= (p.Asn1818=)
c.4754A= (p.Asn1585=)
c.5501A= (p.Asn1834=)
16g.3729541T>ACA394556163CREBBPc.5506A>T (p.Asn1836Tyr)
c.5392A>T (p.Asn1798Tyr)
c.5461A>T (p.Asn1821Tyr)
c.5089A>T (p.Asn1697Tyr)
c.5245A>T (p.Asn1749Tyr)
c.5452A>T (p.Asn1818Tyr)
c.4753A>T (p.Asn1585Tyr)
c.5500A>T (p.Asn1834Tyr)
dbSNP
16g.3729541T>CCA394556164CREBBPc.5506A>G (p.Asn1836Asp)
c.5392A>G (p.Asn1798Asp)
c.5461A>G (p.Asn1821Asp)
c.5089A>G (p.Asn1697Asp)
c.5245A>G (p.Asn1749Asp)
c.5452A>G (p.Asn1818Asp)
c.4753A>G (p.Asn1585Asp)
c.5500A>G (p.Asn1834Asp)
16g.3729541T>GCA394556162CREBBPc.5506A>C (p.Asn1836His)
c.5392A>C (p.Asn1798His)
c.5461A>C (p.Asn1821His)
c.5089A>C (p.Asn1697His)
c.5245A>C (p.Asn1749His)
c.5452A>C (p.Asn1818His)
c.4753A>C (p.Asn1585His)
c.5500A>C (p.Asn1834His)
dbSNP
16g.3729542T>ACA394556166CREBBPc.5505A>T (p.Glu1835Asp)
c.5391A>T (p.Glu1797Asp)
c.5460A>T (p.Glu1820Asp)
c.5088A>T (p.Glu1696Asp)
c.5244A>T (p.Glu1748Asp)
c.5451A>T (p.Glu1817Asp)
c.4752A>T (p.Glu1584Asp)
c.5499A>T (p.Glu1833Asp)
dbSNP
16g.3729542T>CCA493394289CREBBPc.5505A>G (p.Glu1835=)
c.5391A>G (p.Glu1797=)
c.5460A>G (p.Glu1820=)
c.5088A>G (p.Glu1696=)
c.5244A>G (p.Glu1748=)
c.5451A>G (p.Glu1817=)
c.4752A>G (p.Glu1584=)
c.5499A>G (p.Glu1833=)
dbSNP
16g.3729542T>GCA394556165CREBBPc.5505A>C (p.Glu1835Asp)
c.5391A>C (p.Glu1797Asp)
c.5460A>C (p.Glu1820Asp)
c.5088A>C (p.Glu1696Asp)
c.5244A>C (p.Glu1748Asp)
c.5451A>C (p.Glu1817Asp)
c.4752A>C (p.Glu1584Asp)
c.5499A>C (p.Glu1833Asp)
16g.3729543T>ACA394556167CREBBPc.5504A>T (p.Glu1835Val)
c.5390A>T (p.Glu1797Val)
c.5459A>T (p.Glu1820Val)
c.5087A>T (p.Glu1696Val)
c.5243A>T (p.Glu1748Val)
c.5450A>T (p.Glu1817Val)
c.4751A>T (p.Glu1584Val)
c.5498A>T (p.Glu1833Val)
16g.3729543T>CCA394556168CREBBPc.5504A>G (p.Glu1835Gly)
c.5390A>G (p.Glu1797Gly)
c.5459A>G (p.Glu1820Gly)
c.5087A>G (p.Glu1696Gly)
c.5243A>G (p.Glu1748Gly)
c.5450A>G (p.Glu1817Gly)
c.4751A>G (p.Glu1584Gly)
c.5498A>G (p.Glu1833Gly)
16g.3729543T>GCA394556169CREBBPc.5504A>C (p.Glu1835Ala)
c.5390A>C (p.Glu1797Ala)
c.5459A>C (p.Glu1820Ala)
c.5087A>C (p.Glu1696Ala)
c.5243A>C (p.Glu1748Ala)
c.5450A>C (p.Glu1817Ala)
c.4751A>C (p.Glu1584Ala)
c.5498A>C (p.Glu1833Ala)
16g.3729544C>ACA394556170CREBBPc.5503G>T (p.Glu1835Ter)
c.5389G>T (p.Glu1797Ter)
c.5458G>T (p.Glu1820Ter)
c.5086G>T (p.Glu1696Ter)
c.5242G>T (p.Glu1748Ter)
c.5449G>T (p.Glu1817Ter)
c.4750G>T (p.Glu1584Ter)
c.5497G>T (p.Glu1833Ter)
dbSNP
16g.3729544C>GCA394556171CREBBPc.5503G>C (p.Glu1835Gln)
c.5389G>C (p.Glu1797Gln)
c.5458G>C (p.Glu1820Gln)
c.5086G>C (p.Glu1696Gln)
c.5242G>C (p.Glu1748Gln)
c.5449G>C (p.Glu1817Gln)
c.4750G>C (p.Glu1584Gln)
c.5497G>C (p.Glu1833Gln)
dbSNP
16g.3729544C>TCA394556172CREBBPc.5503G>A (p.Glu1835Lys)
c.5389G>A (p.Glu1797Lys)
c.5458G>A (p.Glu1820Lys)
c.5086G>A (p.Glu1696Lys)
c.5242G>A (p.Glu1748Lys)
c.5449G>A (p.Glu1817Lys)
c.4750G>A (p.Glu1584Lys)
c.5497G>A (p.Glu1833Lys)
dbSNP
16g.3729545T>ACA394556173CREBBPc.5502A>T (p.Gln1834His)
c.5388A>T (p.Gln1796His)
c.5457A>T (p.Gln1819His)
c.5085A>T (p.Gln1695His)
c.5241A>T (p.Gln1747His)
c.5448A>T (p.Gln1816His)
c.4749A>T (p.Gln1583His)
c.5496A>T (p.Gln1832His)
dbSNP
16g.3729545T>CCA493394294CREBBPc.5502A>G (p.Gln1834=)
c.5388A>G (p.Gln1796=)
c.5457A>G (p.Gln1819=)
c.5085A>G (p.Gln1695=)
c.5241A>G (p.Gln1747=)
c.5448A>G (p.Gln1816=)
c.4749A>G (p.Gln1583=)
c.5496A>G (p.Gln1832=)
16g.3729545T>GCA394556174CREBBPc.5502A>C (p.Gln1834His)
c.5388A>C (p.Gln1796His)
c.5457A>C (p.Gln1819His)
c.5085A>C (p.Gln1695His)
c.5241A>C (p.Gln1747His)
c.5448A>C (p.Gln1816His)
c.4749A>C (p.Gln1583His)
c.5496A>C (p.Gln1832His)
16g.3729546T>ACA394556175CREBBPc.5501A>T (p.Gln1834Leu)
c.5387A>T (p.Gln1796Leu)
c.5456A>T (p.Gln1819Leu)
c.5084A>T (p.Gln1695Leu)
c.5240A>T (p.Gln1747Leu)
c.5447A>T (p.Gln1816Leu)
c.4748A>T (p.Gln1583Leu)
c.5495A>T (p.Gln1832Leu)
16g.3729546T>CCA394556176CREBBPc.5501A>G (p.Gln1834Arg)
c.5387A>G (p.Gln1796Arg)
c.5456A>G (p.Gln1819Arg)
c.5084A>G (p.Gln1695Arg)
c.5240A>G (p.Gln1747Arg)
c.5447A>G (p.Gln1816Arg)
c.4748A>G (p.Gln1583Arg)
c.5495A>G (p.Gln1832Arg)
16g.3729546T>GCA394556177CREBBPc.5501A>C (p.Gln1834Pro)
c.5387A>C (p.Gln1796Pro)
c.5456A>C (p.Gln1819Pro)
c.5084A>C (p.Gln1695Pro)
c.5240A>C (p.Gln1747Pro)
c.5447A>C (p.Gln1816Pro)
c.4748A>C (p.Gln1583Pro)
c.5495A>C (p.Gln1832Pro)
16g.3729547G>ACA394556179CREBBPc.5500C>T (p.Gln1834Ter)
c.5386C>T (p.Gln1796Ter)
c.5455C>T (p.Gln1819Ter)
c.5083C>T (p.Gln1695Ter)
c.5239C>T (p.Gln1747Ter)
c.5446C>T (p.Gln1816Ter)
c.4747C>T (p.Gln1583Ter)
c.5494C>T (p.Gln1832Ter)
dbSNP
16g.3729547G>CCA394556180CREBBPc.5500C>G (p.Gln1834Glu)
c.5386C>G (p.Gln1796Glu)
c.5455C>G (p.Gln1819Glu)
c.5083C>G (p.Gln1695Glu)
c.5239C>G (p.Gln1747Glu)
c.5446C>G (p.Gln1816Glu)
c.4747C>G (p.Gln1583Glu)
c.5494C>G (p.Gln1832Glu)
dbSNP
16g.3729547G>TCA394556178CREBBPc.5500C>A (p.Gln1834Lys)
c.5386C>A (p.Gln1796Lys)
c.5455C>A (p.Gln1819Lys)
c.5083C>A (p.Gln1695Lys)
c.5239C>A (p.Gln1747Lys)
c.5446C>A (p.Gln1816Lys)
c.4747C>A (p.Gln1583Lys)
c.5494C>A (p.Gln1832Lys)
dbSNP
16g.3729548G>ACA493394301CREBBPc.5499C>T (p.Cys1833=)
c.5385C>T (p.Cys1795=)
c.5454C>T (p.Cys1818=)
c.5082C>T (p.Cys1694=)
c.5238C>T (p.Cys1746=)
c.5445C>T (p.Cys1815=)
c.4746C>T (p.Cys1582=)
c.5493C>T (p.Cys1831=)
dbSNP
16g.3729548G>CCA394556181CREBBPc.5499C>G (p.Cys1833Trp)
c.5385C>G (p.Cys1795Trp)
c.5454C>G (p.Cys1818Trp)
c.5082C>G (p.Cys1694Trp)
c.5238C>G (p.Cys1746Trp)
c.5445C>G (p.Cys1815Trp)
c.4746C>G (p.Cys1582Trp)
c.5493C>G (p.Cys1831Trp)
dbSNP
16g.3729548G>TCA394556182CREBBPc.5499C>A (p.Cys1833Ter)
c.5385C>A (p.Cys1795Ter)
c.5454C>A (p.Cys1818Ter)
c.5082C>A (p.Cys1694Ter)
c.5238C>A (p.Cys1746Ter)
c.5445C>A (p.Cys1815Ter)
c.4746C>A (p.Cys1582Ter)
c.5493C>A (p.Cys1831Ter)
dbSNP
16g.3729549C>ACA394556183CREBBPc.5498G>T (p.Cys1833Phe)
c.5384G>T (p.Cys1795Phe)
c.5453G>T (p.Cys1818Phe)
c.5081G>T (p.Cys1694Phe)
c.5237G>T (p.Cys1746Phe)
c.5444G>T (p.Cys1815Phe)
c.4745G>T (p.Cys1582Phe)
c.5492G>T (p.Cys1831Phe)
dbSNP
16g.3729549C>GCA394556184CREBBPc.5498G>C (p.Cys1833Ser)
c.5384G>C (p.Cys1795Ser)
c.5453G>C (p.Cys1818Ser)
c.5081G>C (p.Cys1694Ser)
c.5237G>C (p.Cys1746Ser)
c.5444G>C (p.Cys1815Ser)
c.4745G>C (p.Cys1582Ser)
c.5492G>C (p.Cys1831Ser)
dbSNP
16g.3729549C>TCA394556185CREBBPc.5498G>A (p.Cys1833Tyr)
c.5384G>A (p.Cys1795Tyr)
c.5453G>A (p.Cys1818Tyr)
c.5081G>A (p.Cys1694Tyr)
c.5237G>A (p.Cys1746Tyr)
c.5444G>A (p.Cys1815Tyr)
c.4745G>A (p.Cys1582Tyr)
c.5492G>A (p.Cys1831Tyr)
dbSNP
16g.3729550A>CCA394556188CREBBPc.5497T>G (p.Cys1833Gly)
c.5383T>G (p.Cys1795Gly)
c.5452T>G (p.Cys1818Gly)
c.5080T>G (p.Cys1694Gly)
c.5236T>G (p.Cys1746Gly)
c.5443T>G (p.Cys1815Gly)
c.4744T>G (p.Cys1582Gly)
c.5491T>G (p.Cys1831Gly)
16g.3729550A>GCA394556186CREBBPc.5497T>C (p.Cys1833Arg)
c.5383T>C (p.Cys1795Arg)
c.5452T>C (p.Cys1818Arg)
c.5080T>C (p.Cys1694Arg)
c.5236T>C (p.Cys1746Arg)
c.5443T>C (p.Cys1815Arg)
c.4744T>C (p.Cys1582Arg)
c.5491T>C (p.Cys1831Arg)
dbSNP
16g.3729550A>TCA394556187CREBBPc.5497T>A (p.Cys1833Ser)
c.5383T>A (p.Cys1795Ser)
c.5452T>A (p.Cys1818Ser)
c.5080T>A (p.Cys1694Ser)
c.5236T>A (p.Cys1746Ser)
c.5443T>A (p.Cys1815Ser)
c.4744T>A (p.Cys1582Ser)
c.5491T>A (p.Cys1831Ser)
dbSNP
16g.3729551G>ACA493394302CREBBPc.5496C>T (p.His1832=)
c.5382C>T (p.His1794=)
c.5451C>T (p.His1817=)
c.5079C>T (p.His1693=)
c.5235C>T (p.His1745=)
c.5442C>T (p.His1814=)
c.4743C>T (p.His1581=)
c.5490C>T (p.His1830=)
dbSNP
16g.3729551G>CCA394556189CREBBPc.5496C>G (p.His1832Gln)
c.5382C>G (p.His1794Gln)
c.5451C>G (p.His1817Gln)
c.5079C>G (p.His1693Gln)
c.5235C>G (p.His1745Gln)
c.5442C>G (p.His1814Gln)
c.4743C>G (p.His1581Gln)
c.5490C>G (p.His1830Gln)
dbSNP
16g.3729551G>TCA394556190CREBBPc.5496C>A (p.His1832Gln)
c.5382C>A (p.His1794Gln)
c.5451C>A (p.His1817Gln)
c.5079C>A (p.His1693Gln)
c.5235C>A (p.His1745Gln)
c.5442C>A (p.His1814Gln)
c.4743C>A (p.His1581Gln)
c.5490C>A (p.His1830Gln)
16g.3729552T>ACA394556191CREBBPc.5495A>T (p.His1832Leu)
c.5381A>T (p.His1794Leu)
c.5450A>T (p.His1817Leu)
c.5078A>T (p.His1693Leu)
c.5234A>T (p.His1745Leu)
c.5441A>T (p.His1814Leu)
c.4742A>T (p.His1581Leu)
c.5489A>T (p.His1830Leu)
dbSNP
16g.3729552T>CCA394556192CREBBPc.5495A>G (p.His1832Arg)
c.5381A>G (p.His1794Arg)
c.5450A>G (p.His1817Arg)
c.5078A>G (p.His1693Arg)
c.5234A>G (p.His1745Arg)
c.5441A>G (p.His1814Arg)
c.4742A>G (p.His1581Arg)
c.5489A>G (p.His1830Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729552T>GCA394556193CREBBPc.5495A>C (p.His1832Pro)
c.5381A>C (p.His1794Pro)
c.5450A>C (p.His1817Pro)
c.5078A>C (p.His1693Pro)
c.5234A>C (p.His1745Pro)
c.5441A>C (p.His1814Pro)
c.4742A>C (p.His1581Pro)
c.5489A>C (p.His1830Pro)
dbSNP
16g.3729552T=CA2202916446CREBBPc.5495A= (p.His1832=)
c.5381A= (p.His1794=)
c.5450A= (p.His1817=)
c.5078A= (p.His1693=)
c.5234A= (p.His1745=)
c.5441A= (p.His1814=)
c.4742A= (p.His1581=)
c.5489A= (p.His1830=)
16g.3729553G>ACA394556196CREBBPc.5494C>T (p.His1832Tyr)
c.5380C>T (p.His1794Tyr)
c.5449C>T (p.His1817Tyr)
c.5077C>T (p.His1693Tyr)
c.5233C>T (p.His1745Tyr)
c.5440C>T (p.His1814Tyr)
c.4741C>T (p.His1581Tyr)
c.5488C>T (p.His1830Tyr)
dbSNP gnomAD v4
16g.3729553G>CCA394556195CREBBPc.5494C>G (p.His1832Asp)
c.5380C>G (p.His1794Asp)
c.5449C>G (p.His1817Asp)
c.5077C>G (p.His1693Asp)
c.5233C>G (p.His1745Asp)
c.5440C>G (p.His1814Asp)
c.4741C>G (p.His1581Asp)
c.5488C>G (p.His1830Asp)
dbSNP
16g.3729553G>TCA394556194CREBBPc.5494C>A (p.His1832Asn)
c.5380C>A (p.His1794Asn)
c.5449C>A (p.His1817Asn)
c.5077C>A (p.His1693Asn)
c.5233C>A (p.His1745Asn)
c.5440C>A (p.His1814Asn)
c.4741C>A (p.His1581Asn)
c.5488C>A (p.His1830Asn)
16g.3729554C>ACA394556197CREBBPc.5493G>T (p.Lys1831Asn)
c.5379G>T (p.Lys1793Asn)
c.5448G>T (p.Lys1816Asn)
c.5076G>T (p.Lys1692Asn)
c.5232G>T (p.Lys1744Asn)
c.5439G>T (p.Lys1813Asn)
c.4740G>T (p.Lys1580Asn)
c.5487G>T (p.Lys1829Asn)
dbSNP
16g.3729554C>GCA394556198CREBBPc.5493G>C (p.Lys1831Asn)
c.5379G>C (p.Lys1793Asn)
c.5448G>C (p.Lys1816Asn)
c.5076G>C (p.Lys1692Asn)
c.5232G>C (p.Lys1744Asn)
c.5439G>C (p.Lys1813Asn)
c.4740G>C (p.Lys1580Asn)
c.5487G>C (p.Lys1829Asn)
dbSNP
16g.3729554C>TCA493394308CREBBPc.5493G>A (p.Lys1831=)
c.5379G>A (p.Lys1793=)
c.5448G>A (p.Lys1816=)
c.5076G>A (p.Lys1692=)
c.5232G>A (p.Lys1744=)
c.5439G>A (p.Lys1813=)
c.4740G>A (p.Lys1580=)
c.5487G>A (p.Lys1829=)
dbSNP gnomAD v4
16g.3729555T>ACA394556199CREBBPc.5492A>T (p.Lys1831Met)
c.5378A>T (p.Lys1793Met)
c.5447A>T (p.Lys1816Met)
c.5075A>T (p.Lys1692Met)
c.5231A>T (p.Lys1744Met)
c.5438A>T (p.Lys1813Met)
c.4739A>T (p.Lys1580Met)
c.5486A>T (p.Lys1829Met)
dbSNP
16g.3729555T>CCA394556200CREBBPc.5492A>G (p.Lys1831Arg)
c.5378A>G (p.Lys1793Arg)
c.5447A>G (p.Lys1816Arg)
c.5075A>G (p.Lys1692Arg)
c.5231A>G (p.Lys1744Arg)
c.5438A>G (p.Lys1813Arg)
c.4739A>G (p.Lys1580Arg)
c.5486A>G (p.Lys1829Arg)
dbSNP
16g.3729555T>GCA394556201CREBBPc.5492A>C (p.Lys1831Thr)
c.5378A>C (p.Lys1793Thr)
c.5447A>C (p.Lys1816Thr)
c.5075A>C (p.Lys1692Thr)
c.5231A>C (p.Lys1744Thr)
c.5438A>C (p.Lys1813Thr)
c.4739A>C (p.Lys1580Thr)
c.5486A>C (p.Lys1829Thr)
16g.3729556T>ACA394556204CREBBPc.5491A>T (p.Lys1831Ter)
c.5377A>T (p.Lys1793Ter)
c.5446A>T (p.Lys1816Ter)
c.5074A>T (p.Lys1692Ter)
c.5230A>T (p.Lys1744Ter)
c.5437A>T (p.Lys1813Ter)
c.4738A>T (p.Lys1580Ter)
c.5485A>T (p.Lys1829Ter)
16g.3729556T>CCA394556203CREBBPc.5491A>G (p.Lys1831Glu)
c.5377A>G (p.Lys1793Glu)
c.5446A>G (p.Lys1816Glu)
c.5074A>G (p.Lys1692Glu)
c.5230A>G (p.Lys1744Glu)
c.5437A>G (p.Lys1813Glu)
c.4738A>G (p.Lys1580Glu)
c.5485A>G (p.Lys1829Glu)
16g.3729556T>GCA394556202CREBBPc.5491A>C (p.Lys1831Gln)
c.5377A>C (p.Lys1793Gln)
c.5446A>C (p.Lys1816Gln)
c.5074A>C (p.Lys1692Gln)
c.5230A>C (p.Lys1744Gln)
c.5437A>C (p.Lys1813Gln)
c.4738A>C (p.Lys1580Gln)
c.5485A>C (p.Lys1829Gln)
16g.3729557G>ACA493394309CREBBPc.5490C>T (p.Ala1830=)
c.5376C>T (p.Ala1792=)
c.5445C>T (p.Ala1815=)
c.5073C>T (p.Ala1691=)
c.5229C>T (p.Ala1743=)
c.5436C>T (p.Ala1812=)
c.4737C>T (p.Ala1579=)
c.5484C>T (p.Ala1828=)
dbSNP
16g.3729557G>CCA493394310CREBBPc.5490C>G (p.Ala1830=)
c.5376C>G (p.Ala1792=)
c.5445C>G (p.Ala1815=)
c.5073C>G (p.Ala1691=)
c.5229C>G (p.Ala1743=)
c.5436C>G (p.Ala1812=)
c.4737C>G (p.Ala1579=)
c.5484C>G (p.Ala1828=)
dbSNP
16g.3729557G=CA2202916447CREBBPc.5490C= (p.Ala1830=)
c.5376C= (p.Ala1792=)
c.5445C= (p.Ala1815=)
c.5073C= (p.Ala1691=)
c.5229C= (p.Ala1743=)
c.5436C= (p.Ala1812=)
c.4737C= (p.Ala1579=)
c.5484C= (p.Ala1828=)
16g.3729557G>TCA493394311CREBBPc.5490C>A (p.Ala1830=)
c.5376C>A (p.Ala1792=)
c.5445C>A (p.Ala1815=)
c.5073C>A (p.Ala1691=)
c.5229C>A (p.Ala1743=)
c.5436C>A (p.Ala1812=)
c.4737C>A (p.Ala1579=)
c.5484C>A (p.Ala1828=)
dbSNP
16g.3729558G>ACA394556205CREBBPc.5489C>T (p.Ala1830Val)
c.5375C>T (p.Ala1792Val)
c.5444C>T (p.Ala1815Val)
c.5072C>T (p.Ala1691Val)
c.5228C>T (p.Ala1743Val)
c.5435C>T (p.Ala1812Val)
c.4736C>T (p.Ala1579Val)
c.5483C>T (p.Ala1828Val)
dbSNP
16g.3729558G>CCA7869275CREBBPc.5489C>G (p.Ala1830Gly)
c.5375C>G (p.Ala1792Gly)
c.5444C>G (p.Ala1815Gly)
c.5072C>G (p.Ala1691Gly)
c.5228C>G (p.Ala1743Gly)
c.5435C>G (p.Ala1812Gly)
c.4736C>G (p.Ala1579Gly)
c.5483C>G (p.Ala1828Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729558G=CA2202916448CREBBPc.5489C= (p.Ala1830=)
c.5375C= (p.Ala1792=)
c.5444C= (p.Ala1815=)
c.5072C= (p.Ala1691=)
c.5228C= (p.Ala1743=)
c.5435C= (p.Ala1812=)
c.4736C= (p.Ala1579=)
c.5483C= (p.Ala1828=)
16g.3729558G>TCA394556206CREBBPc.5489C>A (p.Ala1830Asp)
c.5375C>A (p.Ala1792Asp)
c.5444C>A (p.Ala1815Asp)
c.5072C>A (p.Ala1691Asp)
c.5228C>A (p.Ala1743Asp)
c.5435C>A (p.Ala1812Asp)
c.4736C>A (p.Ala1579Asp)
c.5483C>A (p.Ala1828Asp)
dbSNP
16g.3729559C>ACA394556207CREBBPc.5488G>T (p.Ala1830Ser)
c.5374G>T (p.Ala1792Ser)
c.5443G>T (p.Ala1815Ser)
c.5071G>T (p.Ala1691Ser)
c.5227G>T (p.Ala1743Ser)
c.5434G>T (p.Ala1812Ser)
c.4735G>T (p.Ala1579Ser)
c.5482G>T (p.Ala1828Ser)
dbSNP
16g.3729559C>GCA394556208CREBBPc.5488G>C (p.Ala1830Pro)
c.5374G>C (p.Ala1792Pro)
c.5443G>C (p.Ala1815Pro)
c.5071G>C (p.Ala1691Pro)
c.5227G>C (p.Ala1743Pro)
c.5434G>C (p.Ala1812Pro)
c.4735G>C (p.Ala1579Pro)
c.5482G>C (p.Ala1828Pro)
dbSNP
16g.3729559C>TCA394556209CREBBPc.5488G>A (p.Ala1830Thr)
c.5374G>A (p.Ala1792Thr)
c.5443G>A (p.Ala1815Thr)
c.5071G>A (p.Ala1691Thr)
c.5227G>A (p.Ala1743Thr)
c.5434G>A (p.Ala1812Thr)
c.4735G>A (p.Ala1579Thr)
c.5482G>A (p.Ala1828Thr)
ClinVar dbSNP
16g.3729560G>ACA7869276CREBBPc.5487C>T (p.His1829=)
c.5373C>T (p.His1791=)
c.5442C>T (p.His1814=)
c.5070C>T (p.His1690=)
c.5226C>T (p.His1742=)
c.5433C>T (p.His1811=)
c.4734C>T (p.His1578=)
c.5481C>T (p.His1827=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729560G>CCA394556211CREBBPc.5487C>G (p.His1829Gln)
c.5373C>G (p.His1791Gln)
c.5442C>G (p.His1814Gln)
c.5070C>G (p.His1690Gln)
c.5226C>G (p.His1742Gln)
c.5433C>G (p.His1811Gln)
c.4734C>G (p.His1578Gln)
c.5481C>G (p.His1827Gln)
dbSNP
16g.3729560G=CA2202916449CREBBPc.5487C= (p.His1829=)
c.5373C= (p.His1791=)
c.5442C= (p.His1814=)
c.5070C= (p.His1690=)
c.5226C= (p.His1742=)
c.5433C= (p.His1811=)
c.4734C= (p.His1578=)
c.5481C= (p.His1827=)
16g.3729560G>TCA394556210CREBBPc.5487C>A (p.His1829Gln)
c.5373C>A (p.His1791Gln)
c.5442C>A (p.His1814Gln)
c.5070C>A (p.His1690Gln)
c.5226C>A (p.His1742Gln)
c.5433C>A (p.His1811Gln)
c.4734C>A (p.His1578Gln)
c.5481C>A (p.His1827Gln)
dbSNP
16g.3729561T>ACA394556212CREBBPc.5486A>T (p.His1829Leu)
c.5372A>T (p.His1791Leu)
c.5441A>T (p.His1814Leu)
c.5069A>T (p.His1690Leu)
c.5225A>T (p.His1742Leu)
c.5432A>T (p.His1811Leu)
c.4733A>T (p.His1578Leu)
c.5480A>T (p.His1827Leu)
16g.3729561T>CCA394556213CREBBPc.5486A>G (p.His1829Arg)
c.5372A>G (p.His1791Arg)
c.5441A>G (p.His1814Arg)
c.5069A>G (p.His1690Arg)
c.5225A>G (p.His1742Arg)
c.5432A>G (p.His1811Arg)
c.4733A>G (p.His1578Arg)
c.5480A>G (p.His1827Arg)
16g.3729561T>GCA394556214CREBBPc.5486A>C (p.His1829Pro)
c.5372A>C (p.His1791Pro)
c.5441A>C (p.His1814Pro)
c.5069A>C (p.His1690Pro)
c.5225A>C (p.His1742Pro)
c.5432A>C (p.His1811Pro)
c.4733A>C (p.His1578Pro)
c.5480A>C (p.His1827Pro)
16g.3729562G>ACA394556215CREBBPc.5485C>T (p.His1829Tyr)
c.5371C>T (p.His1791Tyr)
c.5440C>T (p.His1814Tyr)
c.5068C>T (p.His1690Tyr)
c.5224C>T (p.His1742Tyr)
c.5431C>T (p.His1811Tyr)
c.4732C>T (p.His1578Tyr)
c.5479C>T (p.His1827Tyr)
dbSNP
16g.3729562G>CCA394556216CREBBPc.5485C>G (p.His1829Asp)
c.5371C>G (p.His1791Asp)
c.5440C>G (p.His1814Asp)
c.5068C>G (p.His1690Asp)
c.5224C>G (p.His1742Asp)
c.5431C>G (p.His1811Asp)
c.4732C>G (p.His1578Asp)
c.5479C>G (p.His1827Asp)
16g.3729562G>TCA394556217CREBBPc.5485C>A (p.His1829Asn)
c.5371C>A (p.His1791Asn)
c.5440C>A (p.His1814Asn)
c.5068C>A (p.His1690Asn)
c.5224C>A (p.His1742Asn)
c.5431C>A (p.His1811Asn)
c.4732C>A (p.His1578Asn)
c.5479C>A (p.His1827Asn)
dbSNP
16g.3729562_3729565delinsGGTACA2202916450CREBBPc.5482_5485delinsTACC (p.Tyr1828=)
c.5368_5371delinsTACC (p.Tyr1790=)
c.5437_5440delinsTACC (p.Tyr1813=)
c.5065_5068delinsTACC (p.Tyr1689=)
c.5221_5224delinsTACC (p.Tyr1741=)
c.5428_5431delinsTACC (p.Tyr1810=)
c.4729_4732delinsTACC (p.Tyr1577=)
c.5476_5479delinsTACC (p.Tyr1826=)
16g.3729563G>ACA493394320CREBBPc.5484C>T (p.Tyr1828=)
c.5370C>T (p.Tyr1790=)
c.5439C>T (p.Tyr1813=)
c.5067C>T (p.Tyr1689=)
c.5223C>T (p.Tyr1741=)
c.5430C>T (p.Tyr1810=)
c.4731C>T (p.Tyr1577=)
c.5478C>T (p.Tyr1826=)
16g.3729563G>CCA394556218CREBBPc.5484C>G (p.Tyr1828Ter)
c.5370C>G (p.Tyr1790Ter)
c.5439C>G (p.Tyr1813Ter)
c.5067C>G (p.Tyr1689Ter)
c.5223C>G (p.Tyr1741Ter)
c.5430C>G (p.Tyr1810Ter)
c.4731C>G (p.Tyr1577Ter)
c.5478C>G (p.Tyr1826Ter)
16g.3729563G>TCA394556219CREBBPc.5484C>A (p.Tyr1828Ter)
c.5370C>A (p.Tyr1790Ter)
c.5439C>A (p.Tyr1813Ter)
c.5067C>A (p.Tyr1689Ter)
c.5223C>A (p.Tyr1741Ter)
c.5430C>A (p.Tyr1810Ter)
c.4731C>A (p.Tyr1577Ter)
c.5478C>A (p.Tyr1826Ter)
16g.3729564_3729566delCA915949069CREBBPc.5482_5484del (p.Tyr1828del)
c.5368_5370del (p.Tyr1790del)
c.5437_5439del (p.Tyr1813del)
c.5065_5067del (p.Tyr1689del)
c.5221_5223del (p.Tyr1741del)
c.5428_5430del (p.Tyr1810del)
c.4729_4731del (p.Tyr1577del)
c.5476_5478del (p.Tyr1826del)
ClinVar dbSNP
16g.3729564T>ACA394556220CREBBPc.5483A>T (p.Tyr1828Phe)
c.5369A>T (p.Tyr1790Phe)
c.5438A>T (p.Tyr1813Phe)
c.5066A>T (p.Tyr1689Phe)
c.5222A>T (p.Tyr1741Phe)
c.5429A>T (p.Tyr1810Phe)
c.4730A>T (p.Tyr1577Phe)
c.5477A>T (p.Tyr1826Phe)
16g.3729564T>CCA394556221CREBBPc.5483A>G (p.Tyr1828Cys)
c.5369A>G (p.Tyr1790Cys)
c.5438A>G (p.Tyr1813Cys)
c.5066A>G (p.Tyr1689Cys)
c.5222A>G (p.Tyr1741Cys)
c.5429A>G (p.Tyr1810Cys)
c.4730A>G (p.Tyr1577Cys)
c.5477A>G (p.Tyr1826Cys)
16g.3729564T>GCA394556222CREBBPc.5483A>C (p.Tyr1828Ser)
c.5369A>C (p.Tyr1790Ser)
c.5438A>C (p.Tyr1813Ser)
c.5066A>C (p.Tyr1689Ser)
c.5222A>C (p.Tyr1741Ser)
c.5429A>C (p.Tyr1810Ser)
c.4730A>C (p.Tyr1577Ser)
c.5477A>C (p.Tyr1826Ser)
16g.3729565A>CCA394556225CREBBPc.5482T>G (p.Tyr1828Asp)
c.5368T>G (p.Tyr1790Asp)
c.5437T>G (p.Tyr1813Asp)
c.5065T>G (p.Tyr1689Asp)
c.5221T>G (p.Tyr1741Asp)
c.5428T>G (p.Tyr1810Asp)
c.4729T>G (p.Tyr1577Asp)
c.5476T>G (p.Tyr1826Asp)
16g.3729565A>GCA394556224CREBBPc.5482T>C (p.Tyr1828His)
c.5368T>C (p.Tyr1790His)
c.5437T>C (p.Tyr1813His)
c.5065T>C (p.Tyr1689His)
c.5221T>C (p.Tyr1741His)
c.5428T>C (p.Tyr1810His)
c.4729T>C (p.Tyr1577His)
c.5476T>C (p.Tyr1826His)
dbSNP
16g.3729565A>TCA394556223CREBBPc.5482T>A (p.Tyr1828Asn)
c.5368T>A (p.Tyr1790Asn)
c.5437T>A (p.Tyr1813Asn)
c.5065T>A (p.Tyr1689Asn)
c.5221T>A (p.Tyr1741Asn)
c.5428T>A (p.Tyr1810Asn)
c.4729T>A (p.Tyr1577Asn)
c.5476T>A (p.Tyr1826Asn)
dbSNP
16g.3729566G>ACA493394322CREBBPc.5481C>T (p.Cys1827=)
c.5367C>T (p.Cys1789=)
c.5436C>T (p.Cys1812=)
c.5064C>T (p.Cys1688=)
c.5220C>T (p.Cys1740=)
c.5427C>T (p.Cys1809=)
c.4728C>T (p.Cys1576=)
c.5475C>T (p.Cys1825=)
dbSNP gnomAD v4
16g.3729566G>CCA394556226CREBBPc.5481C>G (p.Cys1827Trp)
c.5367C>G (p.Cys1789Trp)
c.5436C>G (p.Cys1812Trp)
c.5064C>G (p.Cys1688Trp)
c.5220C>G (p.Cys1740Trp)
c.5427C>G (p.Cys1809Trp)
c.4728C>G (p.Cys1576Trp)
c.5475C>G (p.Cys1825Trp)
dbSNP
16g.3729566G>TCA394556227CREBBPc.5481C>A (p.Cys1827Ter)
c.5367C>A (p.Cys1789Ter)
c.5436C>A (p.Cys1812Ter)
c.5064C>A (p.Cys1688Ter)
c.5220C>A (p.Cys1740Ter)
c.5427C>A (p.Cys1809Ter)
c.4728C>A (p.Cys1576Ter)
c.5475C>A (p.Cys1825Ter)
dbSNP
16g.3729567C>ACA394556228CREBBPc.5480G>T (p.Cys1827Phe)
c.5366G>T (p.Cys1789Phe)
c.5435G>T (p.Cys1812Phe)
c.5063G>T (p.Cys1688Phe)
c.5219G>T (p.Cys1740Phe)
c.5426G>T (p.Cys1809Phe)
c.4727G>T (p.Cys1576Phe)
c.5474G>T (p.Cys1825Phe)
dbSNP
16g.3729567C>GCA394556229CREBBPc.5480G>C (p.Cys1827Ser)
c.5366G>C (p.Cys1789Ser)
c.5435G>C (p.Cys1812Ser)
c.5063G>C (p.Cys1688Ser)
c.5219G>C (p.Cys1740Ser)
c.5426G>C (p.Cys1809Ser)
c.4727G>C (p.Cys1576Ser)
c.5474G>C (p.Cys1825Ser)
dbSNP
16g.3729567C>TCA394556230CREBBPc.5480G>A (p.Cys1827Tyr)
c.5366G>A (p.Cys1789Tyr)
c.5435G>A (p.Cys1812Tyr)
c.5063G>A (p.Cys1688Tyr)
c.5219G>A (p.Cys1740Tyr)
c.5426G>A (p.Cys1809Tyr)
c.4727G>A (p.Cys1576Tyr)
c.5474G>A (p.Cys1825Tyr)
dbSNP gnomAD v4
16g.3729568A=CA2202916451CREBBPc.5479T= (p.Cys1827=)
c.5365T= (p.Cys1789=)
c.5434T= (p.Cys1812=)
c.5062T= (p.Cys1688=)
c.5218T= (p.Cys1740=)
c.5425T= (p.Cys1809=)
c.4726T= (p.Cys1576=)
c.5473T= (p.Cys1825=)
16g.3729568A>CCA394556231CREBBPc.5479T>G (p.Cys1827Gly)
c.5365T>G (p.Cys1789Gly)
c.5434T>G (p.Cys1812Gly)
c.5062T>G (p.Cys1688Gly)
c.5218T>G (p.Cys1740Gly)
c.5425T>G (p.Cys1809Gly)
c.4726T>G (p.Cys1576Gly)
c.5473T>G (p.Cys1825Gly)
16g.3729568A>GCA394556232CREBBPc.5479T>C (p.Cys1827Arg)
c.5365T>C (p.Cys1789Arg)
c.5434T>C (p.Cys1812Arg)
c.5062T>C (p.Cys1688Arg)
c.5218T>C (p.Cys1740Arg)
c.5425T>C (p.Cys1809Arg)
c.4726T>C (p.Cys1576Arg)
c.5473T>C (p.Cys1825Arg)
dbSNP
16g.3729568A>TCA394556233CREBBPc.5479T>A (p.Cys1827Ser)
c.5365T>A (p.Cys1789Ser)
c.5434T>A (p.Cys1812Ser)
c.5062T>A (p.Cys1688Ser)
c.5218T>A (p.Cys1740Ser)
c.5425T>A (p.Cys1809Ser)
c.4726T>A (p.Cys1576Ser)
c.5473T>A (p.Cys1825Ser)
dbSNP
16g.3729569G>ACA493394327CREBBPc.5478C>T (p.Cys1826=)
c.5364C>T (p.Cys1788=)
c.5433C>T (p.Cys1811=)
c.5061C>T (p.Cys1687=)
c.5217C>T (p.Cys1739=)
c.5424C>T (p.Cys1808=)
c.4725C>T (p.Cys1575=)
c.5472C>T (p.Cys1824=)
dbSNP
16g.3729569G>CCA394556234CREBBPc.5478C>G (p.Cys1826Trp)
c.5364C>G (p.Cys1788Trp)
c.5433C>G (p.Cys1811Trp)
c.5061C>G (p.Cys1687Trp)
c.5217C>G (p.Cys1739Trp)
c.5424C>G (p.Cys1808Trp)
c.4725C>G (p.Cys1575Trp)
c.5472C>G (p.Cys1824Trp)
dbSNP
16g.3729569G>TCA394556235CREBBPc.5478C>A (p.Cys1826Ter)
c.5364C>A (p.Cys1788Ter)
c.5433C>A (p.Cys1811Ter)
c.5061C>A (p.Cys1687Ter)
c.5217C>A (p.Cys1739Ter)
c.5424C>A (p.Cys1808Ter)
c.4725C>A (p.Cys1575Ter)
c.5472C>A (p.Cys1824Ter)

Number of alleles fetched