Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
16g.3729570C>ACA394556236CREBBPc.5477G>T (p.Cys1826Phe)
c.5363G>T (p.Cys1788Phe)
c.5432G>T (p.Cys1811Phe)
c.5060G>T (p.Cys1687Phe)
c.5216G>T (p.Cys1739Phe)
c.5423G>T (p.Cys1808Phe)
c.4724G>T (p.Cys1575Phe)
c.5471G>T (p.Cys1824Phe)
16g.3729570C=CA2202916452CREBBPc.5477G= (p.Cys1826=)
c.5363G= (p.Cys1788=)
c.5432G= (p.Cys1811=)
c.5060G= (p.Cys1687=)
c.5216G= (p.Cys1739=)
c.5423G= (p.Cys1808=)
c.4724G= (p.Cys1575=)
c.5471G= (p.Cys1824=)
16g.3729570C>GCA394556237CREBBPc.5477G>C (p.Cys1826Ser)
c.5363G>C (p.Cys1788Ser)
c.5432G>C (p.Cys1811Ser)
c.5060G>C (p.Cys1687Ser)
c.5216G>C (p.Cys1739Ser)
c.5423G>C (p.Cys1808Ser)
c.4724G>C (p.Cys1575Ser)
c.5471G>C (p.Cys1824Ser)
dbSNP
16g.3729570C>TCA394556238CREBBPc.5477G>A (p.Cys1826Tyr)
c.5363G>A (p.Cys1788Tyr)
c.5432G>A (p.Cys1811Tyr)
c.5060G>A (p.Cys1687Tyr)
c.5216G>A (p.Cys1739Tyr)
c.5423G>A (p.Cys1808Tyr)
c.4724G>A (p.Cys1575Tyr)
c.5471G>A (p.Cys1824Tyr)
16g.3729571A=CA2202916453CREBBPc.5476T= (p.Cys1826=)
c.5362T= (p.Cys1788=)
c.5431T= (p.Cys1811=)
c.5059T= (p.Cys1687=)
c.5215T= (p.Cys1739=)
c.5422T= (p.Cys1808=)
c.4723T= (p.Cys1575=)
c.5470T= (p.Cys1824=)
16g.3729571A>CCA394556239CREBBPc.5476T>G (p.Cys1826Gly)
c.5362T>G (p.Cys1788Gly)
c.5431T>G (p.Cys1811Gly)
c.5059T>G (p.Cys1687Gly)
c.5215T>G (p.Cys1739Gly)
c.5422T>G (p.Cys1808Gly)
c.4723T>G (p.Cys1575Gly)
c.5470T>G (p.Cys1824Gly)
dbSNP
16g.3729571A>GCA394556240CREBBPc.5476T>C (p.Cys1826Arg)
c.5362T>C (p.Cys1788Arg)
c.5431T>C (p.Cys1811Arg)
c.5059T>C (p.Cys1687Arg)
c.5215T>C (p.Cys1739Arg)
c.5422T>C (p.Cys1808Arg)
c.4723T>C (p.Cys1575Arg)
c.5470T>C (p.Cys1824Arg)
16g.3729571A>TCA394556241CREBBPc.5476T>A (p.Cys1826Ser)
c.5362T>A (p.Cys1788Ser)
c.5431T>A (p.Cys1811Ser)
c.5059T>A (p.Cys1687Ser)
c.5215T>A (p.Cys1739Ser)
c.5422T>A (p.Cys1808Ser)
c.4723T>A (p.Cys1575Ser)
c.5470T>A (p.Cys1824Ser)
16g.3729572G>ACA493394330CREBBPc.5475C>T (p.Leu1825=)
c.5361C>T (p.Leu1787=)
c.5430C>T (p.Leu1810=)
c.5058C>T (p.Leu1686=)
c.5214C>T (p.Leu1738=)
c.5421C>T (p.Leu1807=)
c.4722C>T (p.Leu1574=)
c.5469C>T (p.Leu1823=)
dbSNP gnomAD v4
16g.3729572G>CCA493394331CREBBPc.5475C>G (p.Leu1825=)
c.5361C>G (p.Leu1787=)
c.5430C>G (p.Leu1810=)
c.5058C>G (p.Leu1686=)
c.5214C>G (p.Leu1738=)
c.5421C>G (p.Leu1807=)
c.4722C>G (p.Leu1574=)
c.5469C>G (p.Leu1823=)
dbSNP gnomAD v4 COSMIC
16g.3729572G>TCA493394332CREBBPc.5475C>A (p.Leu1825=)
c.5361C>A (p.Leu1787=)
c.5430C>A (p.Leu1810=)
c.5058C>A (p.Leu1686=)
c.5214C>A (p.Leu1738=)
c.5421C>A (p.Leu1807=)
c.4722C>A (p.Leu1574=)
c.5469C>A (p.Leu1823=)
16g.3729573A=CA2202916454CREBBPc.5474T= (p.Leu1825=)
c.5360T= (p.Leu1787=)
c.5429T= (p.Leu1810=)
c.5057T= (p.Leu1686=)
c.5213T= (p.Leu1738=)
c.5420T= (p.Leu1807=)
c.4721T= (p.Leu1574=)
c.5468T= (p.Leu1823=)
16g.3729573A>CCA394556242CREBBPc.5474T>G (p.Leu1825Arg)
c.5360T>G (p.Leu1787Arg)
c.5429T>G (p.Leu1810Arg)
c.5057T>G (p.Leu1686Arg)
c.5213T>G (p.Leu1738Arg)
c.5420T>G (p.Leu1807Arg)
c.4721T>G (p.Leu1574Arg)
c.5468T>G (p.Leu1823Arg)
dbSNP gnomAD v2 gnomAD v4
16g.3729573A>GCA394556244CREBBPc.5474T>C (p.Leu1825Pro)
c.5360T>C (p.Leu1787Pro)
c.5429T>C (p.Leu1810Pro)
c.5057T>C (p.Leu1686Pro)
c.5213T>C (p.Leu1738Pro)
c.5420T>C (p.Leu1807Pro)
c.4721T>C (p.Leu1574Pro)
c.5468T>C (p.Leu1823Pro)
dbSNP
16g.3729573A>TCA394556243CREBBPc.5474T>A (p.Leu1825His)
c.5360T>A (p.Leu1787His)
c.5429T>A (p.Leu1810His)
c.5057T>A (p.Leu1686His)
c.5213T>A (p.Leu1738His)
c.5420T>A (p.Leu1807His)
c.4721T>A (p.Leu1574His)
c.5468T>A (p.Leu1823His)
dbSNP
16g.3729574G>ACA394556245CREBBPc.5473C>T (p.Leu1825Phe)
c.5359C>T (p.Leu1787Phe)
c.5428C>T (p.Leu1810Phe)
c.5056C>T (p.Leu1686Phe)
c.5212C>T (p.Leu1738Phe)
c.5419C>T (p.Leu1807Phe)
c.4720C>T (p.Leu1574Phe)
c.5467C>T (p.Leu1823Phe)
dbSNP gnomAD v4
16g.3729574G>CCA394556246CREBBPc.5473C>G (p.Leu1825Val)
c.5359C>G (p.Leu1787Val)
c.5428C>G (p.Leu1810Val)
c.5056C>G (p.Leu1686Val)
c.5212C>G (p.Leu1738Val)
c.5419C>G (p.Leu1807Val)
c.4720C>G (p.Leu1574Val)
c.5467C>G (p.Leu1823Val)
dbSNP
16g.3729574G>TCA394556247CREBBPc.5473C>A (p.Leu1825Ile)
c.5359C>A (p.Leu1787Ile)
c.5428C>A (p.Leu1810Ile)
c.5056C>A (p.Leu1686Ile)
c.5212C>A (p.Leu1738Ile)
c.5419C>A (p.Leu1807Ile)
c.4720C>A (p.Leu1574Ile)
c.5467C>A (p.Leu1823Ile)
dbSNP
16g.3729575G>ACA276972226CREBBPc.5472C>T (p.Ala1824=)
c.5358C>T (p.Ala1786=)
c.5427C>T (p.Ala1809=)
c.5055C>T (p.Ala1685=)
c.5211C>T (p.Ala1737=)
c.5418C>T (p.Ala1806=)
c.4719C>T (p.Ala1573=)
c.5466C>T (p.Ala1822=)
dbSNP gnomAD v2 gnomAD v4
16g.3729575G>CCA493394339CREBBPc.5472C>G (p.Ala1824=)
c.5358C>G (p.Ala1786=)
c.5427C>G (p.Ala1809=)
c.5055C>G (p.Ala1685=)
c.5211C>G (p.Ala1737=)
c.5418C>G (p.Ala1806=)
c.4719C>G (p.Ala1573=)
c.5466C>G (p.Ala1822=)
dbSNP gnomAD v4
16g.3729575G=CA2202916455CREBBPc.5472C= (p.Ala1824=)
c.5358C= (p.Ala1786=)
c.5427C= (p.Ala1809=)
c.5055C= (p.Ala1685=)
c.5211C= (p.Ala1737=)
c.5418C= (p.Ala1806=)
c.4719C= (p.Ala1573=)
c.5466C= (p.Ala1822=)
16g.3729575G>TCA493394340CREBBPc.5472C>A (p.Ala1824=)
c.5358C>A (p.Ala1786=)
c.5427C>A (p.Ala1809=)
c.5055C>A (p.Ala1685=)
c.5211C>A (p.Ala1737=)
c.5418C>A (p.Ala1806=)
c.4719C>A (p.Ala1573=)
c.5466C>A (p.Ala1822=)
16g.3729576G>ACA394556248CREBBPc.5471C>T (p.Ala1824Val)
c.5357C>T (p.Ala1786Val)
c.5426C>T (p.Ala1809Val)
c.5054C>T (p.Ala1685Val)
c.5210C>T (p.Ala1737Val)
c.5417C>T (p.Ala1806Val)
c.4718C>T (p.Ala1573Val)
c.5465C>T (p.Ala1822Val)
dbSNP
16g.3729576G>CCA394556249CREBBPc.5471C>G (p.Ala1824Gly)
c.5357C>G (p.Ala1786Gly)
c.5426C>G (p.Ala1809Gly)
c.5054C>G (p.Ala1685Gly)
c.5210C>G (p.Ala1737Gly)
c.5417C>G (p.Ala1806Gly)
c.4718C>G (p.Ala1573Gly)
c.5465C>G (p.Ala1822Gly)
dbSNP
16g.3729576G>TCA394556250CREBBPc.5471C>A (p.Ala1824Asp)
c.5357C>A (p.Ala1786Asp)
c.5426C>A (p.Ala1809Asp)
c.5054C>A (p.Ala1685Asp)
c.5210C>A (p.Ala1737Asp)
c.5417C>A (p.Ala1806Asp)
c.4718C>A (p.Ala1573Asp)
c.5465C>A (p.Ala1822Asp)
16g.3729577C>ACA394556251CREBBPc.5470G>T (p.Ala1824Ser)
c.5356G>T (p.Ala1786Ser)
c.5425G>T (p.Ala1809Ser)
c.5053G>T (p.Ala1685Ser)
c.5209G>T (p.Ala1737Ser)
c.5416G>T (p.Ala1806Ser)
c.4717G>T (p.Ala1573Ser)
c.5464G>T (p.Ala1822Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729577C=CA2202916456CREBBPc.5470G= (p.Ala1824=)
c.5356G= (p.Ala1786=)
c.5425G= (p.Ala1809=)
c.5053G= (p.Ala1685=)
c.5209G= (p.Ala1737=)
c.5416G= (p.Ala1806=)
c.4717G= (p.Ala1573=)
c.5464G= (p.Ala1822=)
16g.3729577C>GCA394556252CREBBPc.5470G>C (p.Ala1824Pro)
c.5356G>C (p.Ala1786Pro)
c.5425G>C (p.Ala1809Pro)
c.5053G>C (p.Ala1685Pro)
c.5209G>C (p.Ala1737Pro)
c.5416G>C (p.Ala1806Pro)
c.4717G>C (p.Ala1573Pro)
c.5464G>C (p.Ala1822Pro)
dbSNP
16g.3729577C>TCA394556253CREBBPc.5470G>A (p.Ala1824Thr)
c.5356G>A (p.Ala1786Thr)
c.5425G>A (p.Ala1809Thr)
c.5053G>A (p.Ala1685Thr)
c.5209G>A (p.Ala1737Thr)
c.5416G>A (p.Ala1806Thr)
c.4717G>A (p.Ala1573Thr)
c.5464G>A (p.Ala1822Thr)
dbSNP gnomAD v4 COSMIC
16g.3729578G>ACA7869277CREBBPc.5469C>T (p.Ile1823=)
c.5355C>T (p.Ile1785=)
c.5424C>T (p.Ile1808=)
c.5052C>T (p.Ile1684=)
c.5208C>T (p.Ile1736=)
c.5415C>T (p.Ile1805=)
c.4716C>T (p.Ile1572=)
c.5463C>T (p.Ile1821=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729578G>CCA394556254CREBBPc.5469C>G (p.Ile1823Met)
c.5355C>G (p.Ile1785Met)
c.5424C>G (p.Ile1808Met)
c.5052C>G (p.Ile1684Met)
c.5208C>G (p.Ile1736Met)
c.5415C>G (p.Ile1805Met)
c.4716C>G (p.Ile1572Met)
c.5463C>G (p.Ile1821Met)
dbSNP
16g.3729578G=CA2202916457CREBBPc.5469C= (p.Ile1823=)
c.5355C= (p.Ile1785=)
c.5424C= (p.Ile1808=)
c.5052C= (p.Ile1684=)
c.5208C= (p.Ile1736=)
c.5415C= (p.Ile1805=)
c.4716C= (p.Ile1572=)
c.5463C= (p.Ile1821=)
16g.3729578G>TCA493394344CREBBPc.5469C>A (p.Ile1823=)
c.5355C>A (p.Ile1785=)
c.5424C>A (p.Ile1808=)
c.5052C>A (p.Ile1684=)
c.5208C>A (p.Ile1736=)
c.5415C>A (p.Ile1805=)
c.4716C>A (p.Ile1572=)
c.5463C>A (p.Ile1821=)
16g.3729579A>CCA394556255CREBBPc.5468T>G (p.Ile1823Ser)
c.5354T>G (p.Ile1785Ser)
c.5423T>G (p.Ile1808Ser)
c.5051T>G (p.Ile1684Ser)
c.5207T>G (p.Ile1736Ser)
c.5414T>G (p.Ile1805Ser)
c.4715T>G (p.Ile1572Ser)
c.5462T>G (p.Ile1821Ser)
dbSNP
16g.3729579A>GCA394556257CREBBPc.5468T>C (p.Ile1823Thr)
c.5354T>C (p.Ile1785Thr)
c.5423T>C (p.Ile1808Thr)
c.5051T>C (p.Ile1684Thr)
c.5207T>C (p.Ile1736Thr)
c.5414T>C (p.Ile1805Thr)
c.4715T>C (p.Ile1572Thr)
c.5462T>C (p.Ile1821Thr)
dbSNP
16g.3729579A>TCA394556256CREBBPc.5468T>A (p.Ile1823Asn)
c.5354T>A (p.Ile1785Asn)
c.5423T>A (p.Ile1808Asn)
c.5051T>A (p.Ile1684Asn)
c.5207T>A (p.Ile1736Asn)
c.5414T>A (p.Ile1805Asn)
c.4715T>A (p.Ile1572Asn)
c.5462T>A (p.Ile1821Asn)
dbSNP
16g.3729580T>ACA394556258CREBBPc.5467A>T (p.Ile1823Phe)
c.5353A>T (p.Ile1785Phe)
c.5422A>T (p.Ile1808Phe)
c.5050A>T (p.Ile1684Phe)
c.5206A>T (p.Ile1736Phe)
c.5413A>T (p.Ile1805Phe)
c.4714A>T (p.Ile1572Phe)
c.5461A>T (p.Ile1821Phe)
ClinVar dbSNP
16g.3729580T>CCA394556259CREBBPc.5467A>G (p.Ile1823Val)
c.5353A>G (p.Ile1785Val)
c.5422A>G (p.Ile1808Val)
c.5050A>G (p.Ile1684Val)
c.5206A>G (p.Ile1736Val)
c.5413A>G (p.Ile1805Val)
c.4714A>G (p.Ile1572Val)
c.5461A>G (p.Ile1821Val)
16g.3729580T>GCA394556261CREBBPc.5467A>C (p.Ile1823Leu)
c.5353A>C (p.Ile1785Leu)
c.5422A>C (p.Ile1808Leu)
c.5050A>C (p.Ile1684Leu)
c.5206A>C (p.Ile1736Leu)
c.5413A>C (p.Ile1805Leu)
c.4714A>C (p.Ile1572Leu)
c.5461A>C (p.Ile1821Leu)
dbSNP
16g.3729581G>ACA493394346CREBBPc.5466C>T (p.Leu1822=)
c.5352C>T (p.Leu1784=)
c.5421C>T (p.Leu1807=)
c.5049C>T (p.Leu1683=)
c.5205C>T (p.Leu1735=)
c.5412C>T (p.Leu1804=)
c.4713C>T (p.Leu1571=)
c.5460C>T (p.Leu1820=)
dbSNP gnomAD v4
16g.3729581G>CCA493394347CREBBPc.5466C>G (p.Leu1822=)
c.5352C>G (p.Leu1784=)
c.5421C>G (p.Leu1807=)
c.5049C>G (p.Leu1683=)
c.5205C>G (p.Leu1735=)
c.5412C>G (p.Leu1804=)
c.4713C>G (p.Leu1571=)
c.5460C>G (p.Leu1820=)
dbSNP gnomAD v4
16g.3729581G>TCA493394348CREBBPc.5466C>A (p.Leu1822=)
c.5352C>A (p.Leu1784=)
c.5421C>A (p.Leu1807=)
c.5049C>A (p.Leu1683=)
c.5205C>A (p.Leu1735=)
c.5412C>A (p.Leu1804=)
c.4713C>A (p.Leu1571=)
c.5460C>A (p.Leu1820=)
16g.3729582A>CCA394556263CREBBPc.5465T>G (p.Leu1822Arg)
c.5351T>G (p.Leu1784Arg)
c.5420T>G (p.Leu1807Arg)
c.5048T>G (p.Leu1683Arg)
c.5204T>G (p.Leu1735Arg)
c.5411T>G (p.Leu1804Arg)
c.4712T>G (p.Leu1571Arg)
c.5459T>G (p.Leu1820Arg)
dbSNP
16g.3729582A>GCA394556265CREBBPc.5465T>C (p.Leu1822Pro)
c.5351T>C (p.Leu1784Pro)
c.5420T>C (p.Leu1807Pro)
c.5048T>C (p.Leu1683Pro)
c.5204T>C (p.Leu1735Pro)
c.5411T>C (p.Leu1804Pro)
c.4712T>C (p.Leu1571Pro)
c.5459T>C (p.Leu1820Pro)
dbSNP
16g.3729582A>TCA394556266CREBBPc.5465T>A (p.Leu1822His)
c.5351T>A (p.Leu1784His)
c.5420T>A (p.Leu1807His)
c.5048T>A (p.Leu1683His)
c.5204T>A (p.Leu1735His)
c.5411T>A (p.Leu1804His)
c.4712T>A (p.Leu1571His)
c.5459T>A (p.Leu1820His)
dbSNP
16g.3729583G>ACA394556272CREBBPc.5464C>T (p.Leu1822Phe)
c.5350C>T (p.Leu1784Phe)
c.5419C>T (p.Leu1807Phe)
c.5047C>T (p.Leu1683Phe)
c.5203C>T (p.Leu1735Phe)
c.5410C>T (p.Leu1804Phe)
c.4711C>T (p.Leu1571Phe)
c.5458C>T (p.Leu1820Phe)
dbSNP
16g.3729583G>CCA394556269CREBBPc.5464C>G (p.Leu1822Val)
c.5350C>G (p.Leu1784Val)
c.5419C>G (p.Leu1807Val)
c.5047C>G (p.Leu1683Val)
c.5203C>G (p.Leu1735Val)
c.5410C>G (p.Leu1804Val)
c.4711C>G (p.Leu1571Val)
c.5458C>G (p.Leu1820Val)
dbSNP
16g.3729583G>TCA394556271CREBBPc.5464C>A (p.Leu1822Ile)
c.5350C>A (p.Leu1784Ile)
c.5419C>A (p.Leu1807Ile)
c.5047C>A (p.Leu1683Ile)
c.5203C>A (p.Leu1735Ile)
c.5410C>A (p.Leu1804Ile)
c.4711C>A (p.Leu1571Ile)
c.5458C>A (p.Leu1820Ile)
dbSNP
16g.3729584C>ACA394556275CREBBPc.5463G>T (p.Gln1821His)
c.5349G>T (p.Gln1783His)
c.5418G>T (p.Gln1806His)
c.5046G>T (p.Gln1682His)
c.5202G>T (p.Gln1734His)
c.5409G>T (p.Gln1803His)
c.4710G>T (p.Gln1570His)
c.5457G>T (p.Gln1819His)
dbSNP
16g.3729584C>GCA394556277CREBBPc.5463G>C (p.Gln1821His)
c.5349G>C (p.Gln1783His)
c.5418G>C (p.Gln1806His)
c.5046G>C (p.Gln1682His)
c.5202G>C (p.Gln1734His)
c.5409G>C (p.Gln1803His)
c.4710G>C (p.Gln1570His)
c.5457G>C (p.Gln1819His)
dbSNP
16g.3729584C>TCA493394352CREBBPc.5463G>A (p.Gln1821=)
c.5349G>A (p.Gln1783=)
c.5418G>A (p.Gln1806=)
c.5046G>A (p.Gln1682=)
c.5202G>A (p.Gln1734=)
c.5409G>A (p.Gln1803=)
c.4710G>A (p.Gln1570=)
c.5457G>A (p.Gln1819=)
dbSNP gnomAD v4
16g.3729585T>ACA394556279CREBBPc.5462A>T (p.Gln1821Leu)
c.5348A>T (p.Gln1783Leu)
c.5417A>T (p.Gln1806Leu)
c.5045A>T (p.Gln1682Leu)
c.5201A>T (p.Gln1734Leu)
c.5408A>T (p.Gln1803Leu)
c.4709A>T (p.Gln1570Leu)
c.5456A>T (p.Gln1819Leu)
dbSNP
16g.3729585T>CCA394556281CREBBPc.5462A>G (p.Gln1821Arg)
c.5348A>G (p.Gln1783Arg)
c.5417A>G (p.Gln1806Arg)
c.5045A>G (p.Gln1682Arg)
c.5201A>G (p.Gln1734Arg)
c.5408A>G (p.Gln1803Arg)
c.4709A>G (p.Gln1570Arg)
c.5456A>G (p.Gln1819Arg)
ClinVar dbSNP
16g.3729585T>GCA394556283CREBBPc.5462A>C (p.Gln1821Pro)
c.5348A>C (p.Gln1783Pro)
c.5417A>C (p.Gln1806Pro)
c.5045A>C (p.Gln1682Pro)
c.5201A>C (p.Gln1734Pro)
c.5408A>C (p.Gln1803Pro)
c.4709A>C (p.Gln1570Pro)
c.5456A>C (p.Gln1819Pro)
dbSNP gnomAD v2 gnomAD v4
16g.3729585T=CA2202916458CREBBPc.5462A= (p.Gln1821=)
c.5348A= (p.Gln1783=)
c.5417A= (p.Gln1806=)
c.5045A= (p.Gln1682=)
c.5201A= (p.Gln1734=)
c.5408A= (p.Gln1803=)
c.4709A= (p.Gln1570=)
c.5456A= (p.Gln1819=)
16g.3729586G>ACA394556284CREBBPc.5461C>T (p.Gln1821Ter)
c.5347C>T (p.Gln1783Ter)
c.5416C>T (p.Gln1806Ter)
c.5044C>T (p.Gln1682Ter)
c.5200C>T (p.Gln1734Ter)
c.5407C>T (p.Gln1803Ter)
c.4708C>T (p.Gln1570Ter)
c.5455C>T (p.Gln1819Ter)
dbSNP
16g.3729586G>CCA394556288CREBBPc.5461C>G (p.Gln1821Glu)
c.5347C>G (p.Gln1783Glu)
c.5416C>G (p.Gln1806Glu)
c.5044C>G (p.Gln1682Glu)
c.5200C>G (p.Gln1734Glu)
c.5407C>G (p.Gln1803Glu)
c.4708C>G (p.Gln1570Glu)
c.5455C>G (p.Gln1819Glu)
dbSNP
16g.3729586G>TCA394556287CREBBPc.5461C>A (p.Gln1821Lys)
c.5347C>A (p.Gln1783Lys)
c.5416C>A (p.Gln1806Lys)
c.5044C>A (p.Gln1682Lys)
c.5200C>A (p.Gln1734Lys)
c.5407C>A (p.Gln1803Lys)
c.4708C>A (p.Gln1570Lys)
c.5455C>A (p.Gln1819Lys)
16g.3729587C>ACA394556290CREBBPc.5460G>T (p.Lys1820Asn)
c.5346G>T (p.Lys1782Asn)
c.5415G>T (p.Lys1805Asn)
c.5043G>T (p.Lys1681Asn)
c.5199G>T (p.Lys1733Asn)
c.5406G>T (p.Lys1802Asn)
c.4707G>T (p.Lys1569Asn)
c.5454G>T (p.Lys1818Asn)
dbSNP
16g.3729587C=CA2202916459CREBBPc.5460G= (p.Lys1820=)
c.5346G= (p.Lys1782=)
c.5415G= (p.Lys1805=)
c.5043G= (p.Lys1681=)
c.5199G= (p.Lys1733=)
c.5406G= (p.Lys1802=)
c.4707G= (p.Lys1569=)
c.5454G= (p.Lys1818=)
16g.3729587C>GCA394556292CREBBPc.5460G>C (p.Lys1820Asn)
c.5346G>C (p.Lys1782Asn)
c.5415G>C (p.Lys1805Asn)
c.5043G>C (p.Lys1681Asn)
c.5199G>C (p.Lys1733Asn)
c.5406G>C (p.Lys1802Asn)
c.4707G>C (p.Lys1569Asn)
c.5454G>C (p.Lys1818Asn)
dbSNP
16g.3729587C>TCA7869278CREBBPc.5460G>A (p.Lys1820=)
c.5346G>A (p.Lys1782=)
c.5415G>A (p.Lys1805=)
c.5043G>A (p.Lys1681=)
c.5199G>A (p.Lys1733=)
c.5406G>A (p.Lys1802=)
c.4707G>A (p.Lys1569=)
c.5454G>A (p.Lys1818=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729588T>ACA394556296CREBBPc.5459A>T (p.Lys1820Met)
c.5345A>T (p.Lys1782Met)
c.5414A>T (p.Lys1805Met)
c.5042A>T (p.Lys1681Met)
c.5198A>T (p.Lys1733Met)
c.5405A>T (p.Lys1802Met)
c.4706A>T (p.Lys1569Met)
c.5453A>T (p.Lys1818Met)
gnomAD v4
16g.3729588T>CCA394556298CREBBPc.5459A>G (p.Lys1820Arg)
c.5345A>G (p.Lys1782Arg)
c.5414A>G (p.Lys1805Arg)
c.5042A>G (p.Lys1681Arg)
c.5198A>G (p.Lys1733Arg)
c.5405A>G (p.Lys1802Arg)
c.4706A>G (p.Lys1569Arg)
c.5453A>G (p.Lys1818Arg)
ClinVar dbSNP gnomAD v4
16g.3729588T>GCA394556299CREBBPc.5459A>C (p.Lys1820Thr)
c.5345A>C (p.Lys1782Thr)
c.5414A>C (p.Lys1805Thr)
c.5042A>C (p.Lys1681Thr)
c.5198A>C (p.Lys1733Thr)
c.5405A>C (p.Lys1802Thr)
c.4706A>C (p.Lys1569Thr)
c.5453A>C (p.Lys1818Thr)
16g.3729588T=CA2202916460CREBBPc.5459A= (p.Lys1820=)
c.5345A= (p.Lys1782=)
c.5414A= (p.Lys1805=)
c.5042A= (p.Lys1681=)
c.5198A= (p.Lys1733=)
c.5405A= (p.Lys1802=)
c.4706A= (p.Lys1569=)
c.5453A= (p.Lys1818=)
16g.3729589T>ACA394556302CREBBPc.5458A>T (p.Lys1820Ter)
c.5344A>T (p.Lys1782Ter)
c.5413A>T (p.Lys1805Ter)
c.5041A>T (p.Lys1681Ter)
c.5197A>T (p.Lys1733Ter)
c.5404A>T (p.Lys1802Ter)
c.4705A>T (p.Lys1569Ter)
c.5452A>T (p.Lys1818Ter)
dbSNP
16g.3729589T>CCA394556303CREBBPc.5458A>G (p.Lys1820Glu)
c.5344A>G (p.Lys1782Glu)
c.5413A>G (p.Lys1805Glu)
c.5041A>G (p.Lys1681Glu)
c.5197A>G (p.Lys1733Glu)
c.5404A>G (p.Lys1802Glu)
c.4705A>G (p.Lys1569Glu)
c.5452A>G (p.Lys1818Glu)
16g.3729589T>GCA394556305CREBBPc.5458A>C (p.Lys1820Gln)
c.5344A>C (p.Lys1782Gln)
c.5413A>C (p.Lys1805Gln)
c.5041A>C (p.Lys1681Gln)
c.5197A>C (p.Lys1733Gln)
c.5404A>C (p.Lys1802Gln)
c.4705A>C (p.Lys1569Gln)
c.5452A>C (p.Lys1818Gln)
16g.3729590G>ACA493394360CREBBPc.5457C>T (p.Cys1819=)
c.5343C>T (p.Cys1781=)
c.5412C>T (p.Cys1804=)
c.5040C>T (p.Cys1680=)
c.5196C>T (p.Cys1732=)
c.5403C>T (p.Cys1801=)
c.4704C>T (p.Cys1568=)
c.5451C>T (p.Cys1817=)
dbSNP gnomAD v4
16g.3729590G>CCA394556308CREBBPc.5457C>G (p.Cys1819Trp)
c.5343C>G (p.Cys1781Trp)
c.5412C>G (p.Cys1804Trp)
c.5040C>G (p.Cys1680Trp)
c.5196C>G (p.Cys1732Trp)
c.5403C>G (p.Cys1801Trp)
c.4704C>G (p.Cys1568Trp)
c.5451C>G (p.Cys1817Trp)
dbSNP
16g.3729590G>TCA394556309CREBBPc.5457C>A (p.Cys1819Ter)
c.5343C>A (p.Cys1781Ter)
c.5412C>A (p.Cys1804Ter)
c.5040C>A (p.Cys1680Ter)
c.5196C>A (p.Cys1732Ter)
c.5403C>A (p.Cys1801Ter)
c.4704C>A (p.Cys1568Ter)
c.5451C>A (p.Cys1817Ter)
COSMIC
16g.3729591C>ACA394556315CREBBPc.5456G>T (p.Cys1819Phe)
c.5342G>T (p.Cys1781Phe)
c.5411G>T (p.Cys1804Phe)
c.5039G>T (p.Cys1680Phe)
c.5195G>T (p.Cys1732Phe)
c.5402G>T (p.Cys1801Phe)
c.4703G>T (p.Cys1568Phe)
c.5450G>T (p.Cys1817Phe)
16g.3729591C>GCA394556312CREBBPc.5456G>C (p.Cys1819Ser)
c.5342G>C (p.Cys1781Ser)
c.5411G>C (p.Cys1804Ser)
c.5039G>C (p.Cys1680Ser)
c.5195G>C (p.Cys1732Ser)
c.5402G>C (p.Cys1801Ser)
c.4703G>C (p.Cys1568Ser)
c.5450G>C (p.Cys1817Ser)
dbSNP
16g.3729591C>TCA394556313CREBBPc.5456G>A (p.Cys1819Tyr)
c.5342G>A (p.Cys1781Tyr)
c.5411G>A (p.Cys1804Tyr)
c.5039G>A (p.Cys1680Tyr)
c.5195G>A (p.Cys1732Tyr)
c.5402G>A (p.Cys1801Tyr)
c.4703G>A (p.Cys1568Tyr)
c.5450G>A (p.Cys1817Tyr)
dbSNP
16g.3729592A>CCA394556317CREBBPc.5455T>G (p.Cys1819Gly)
c.5341T>G (p.Cys1781Gly)
c.5410T>G (p.Cys1804Gly)
c.5038T>G (p.Cys1680Gly)
c.5194T>G (p.Cys1732Gly)
c.5401T>G (p.Cys1801Gly)
c.4702T>G (p.Cys1568Gly)
c.5449T>G (p.Cys1817Gly)
dbSNP
16g.3729592A>GCA394556319CREBBPc.5455T>C (p.Cys1819Arg)
c.5341T>C (p.Cys1781Arg)
c.5410T>C (p.Cys1804Arg)
c.5038T>C (p.Cys1680Arg)
c.5194T>C (p.Cys1732Arg)
c.5401T>C (p.Cys1801Arg)
c.4702T>C (p.Cys1568Arg)
c.5449T>C (p.Cys1817Arg)
dbSNP
16g.3729592A>TCA394556321CREBBPc.5455T>A (p.Cys1819Ser)
c.5341T>A (p.Cys1781Ser)
c.5410T>A (p.Cys1804Ser)
c.5038T>A (p.Cys1680Ser)
c.5194T>A (p.Cys1732Ser)
c.5401T>A (p.Cys1801Ser)
c.4702T>A (p.Cys1568Ser)
c.5449T>A (p.Cys1817Ser)
dbSNP
16g.3729593C>ACA493394361CREBBPc.5454G>T (p.Val1818=)
c.5340G>T (p.Val1780=)
c.5409G>T (p.Val1803=)
c.5037G>T (p.Val1679=)
c.5193G>T (p.Val1731=)
c.5400G>T (p.Val1800=)
c.4701G>T (p.Val1567=)
c.5448G>T (p.Val1816=)
16g.3729593C=CA2202916461CREBBPc.5454G= (p.Val1818=)
c.5340G= (p.Val1780=)
c.5409G= (p.Val1803=)
c.5037G= (p.Val1679=)
c.5193G= (p.Val1731=)
c.5400G= (p.Val1800=)
c.4701G= (p.Val1567=)
c.5448G= (p.Val1816=)
16g.3729593C>GCA493394362CREBBPc.5454G>C (p.Val1818=)
c.5340G>C (p.Val1780=)
c.5409G>C (p.Val1803=)
c.5037G>C (p.Val1679=)
c.5193G>C (p.Val1731=)
c.5400G>C (p.Val1800=)
c.4701G>C (p.Val1567=)
c.5448G>C (p.Val1816=)
dbSNP
16g.3729593C>TCA171798CREBBPc.5454G>A (p.Val1818=)
c.5340G>A (p.Val1780=)
c.5409G>A (p.Val1803=)
c.5037G>A (p.Val1679=)
c.5193G>A (p.Val1731=)
c.5400G>A (p.Val1800=)
c.4701G>A (p.Val1567=)
c.5448G>A (p.Val1816=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729594A>CCA394556325CREBBPc.5453T>G (p.Val1818Gly)
c.5339T>G (p.Val1780Gly)
c.5408T>G (p.Val1803Gly)
c.5036T>G (p.Val1679Gly)
c.5192T>G (p.Val1731Gly)
c.5399T>G (p.Val1800Gly)
c.4700T>G (p.Val1567Gly)
c.5447T>G (p.Val1816Gly)
dbSNP
16g.3729594A>GCA394556326CREBBPc.5453T>C (p.Val1818Ala)
c.5339T>C (p.Val1780Ala)
c.5408T>C (p.Val1803Ala)
c.5036T>C (p.Val1679Ala)
c.5192T>C (p.Val1731Ala)
c.5399T>C (p.Val1800Ala)
c.4700T>C (p.Val1567Ala)
c.5447T>C (p.Val1816Ala)
16g.3729594A>TCA394556328CREBBPc.5453T>A (p.Val1818Glu)
c.5339T>A (p.Val1780Glu)
c.5408T>A (p.Val1803Glu)
c.5036T>A (p.Val1679Glu)
c.5192T>A (p.Val1731Glu)
c.5399T>A (p.Val1800Glu)
c.4700T>A (p.Val1567Glu)
c.5447T>A (p.Val1816Glu)
dbSNP
16g.3729595C>ACA394556330CREBBPc.5452G>T (p.Val1818Leu)
c.5338G>T (p.Val1780Leu)
c.5407G>T (p.Val1803Leu)
c.5035G>T (p.Val1679Leu)
c.5191G>T (p.Val1731Leu)
c.5398G>T (p.Val1800Leu)
c.4699G>T (p.Val1567Leu)
c.5446G>T (p.Val1816Leu)
dbSNP
16g.3729595C>GCA394556332CREBBPc.5452G>C (p.Val1818Leu)
c.5338G>C (p.Val1780Leu)
c.5407G>C (p.Val1803Leu)
c.5035G>C (p.Val1679Leu)
c.5191G>C (p.Val1731Leu)
c.5398G>C (p.Val1800Leu)
c.4699G>C (p.Val1567Leu)
c.5446G>C (p.Val1816Leu)
dbSNP
16g.3729595C>TCA394556334CREBBPc.5452G>A (p.Val1818Met)
c.5338G>A (p.Val1780Met)
c.5407G>A (p.Val1803Met)
c.5035G>A (p.Val1679Met)
c.5191G>A (p.Val1731Met)
c.5398G>A (p.Val1800Met)
c.4699G>A (p.Val1567Met)
c.5446G>A (p.Val1816Met)
dbSNP
16g.3729596C>ACA493394363CREBBPc.5451G>T (p.Pro1817=)
c.5337G>T (p.Pro1779=)
c.5406G>T (p.Pro1802=)
c.5034G>T (p.Pro1678=)
c.5190G>T (p.Pro1730=)
c.5397G>T (p.Pro1799=)
c.4698G>T (p.Pro1566=)
c.5445G>T (p.Pro1815=)
dbSNP gnomAD v3 gnomAD v4
16g.3729596C=CA2202916462CREBBPc.5451G= (p.Pro1817=)
c.5337G= (p.Pro1779=)
c.5406G= (p.Pro1802=)
c.5034G= (p.Pro1678=)
c.5190G= (p.Pro1730=)
c.5397G= (p.Pro1799=)
c.4698G= (p.Pro1566=)
c.5445G= (p.Pro1815=)
16g.3729596C>GCA493394364CREBBPc.5451G>C (p.Pro1817=)
c.5337G>C (p.Pro1779=)
c.5406G>C (p.Pro1802=)
c.5034G>C (p.Pro1678=)
c.5190G>C (p.Pro1730=)
c.5397G>C (p.Pro1799=)
c.4698G>C (p.Pro1566=)
c.5445G>C (p.Pro1815=)
16g.3729596C>TCA7869279CREBBPc.5451G>A (p.Pro1817=)
c.5337G>A (p.Pro1779=)
c.5406G>A (p.Pro1802=)
c.5034G>A (p.Pro1678=)
c.5190G>A (p.Pro1730=)
c.5397G>A (p.Pro1799=)
c.4698G>A (p.Pro1566=)
c.5445G>A (p.Pro1815=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729597G>ACA394556338CREBBPc.5450C>T (p.Pro1817Leu)
c.5336C>T (p.Pro1779Leu)
c.5405C>T (p.Pro1802Leu)
c.5033C>T (p.Pro1678Leu)
c.5189C>T (p.Pro1730Leu)
c.5396C>T (p.Pro1799Leu)
c.4697C>T (p.Pro1566Leu)
c.5444C>T (p.Pro1815Leu)
dbSNP gnomAD v4 COSMIC
16g.3729597G>CCA394556340CREBBPc.5450C>G (p.Pro1817Arg)
c.5336C>G (p.Pro1779Arg)
c.5405C>G (p.Pro1802Arg)
c.5033C>G (p.Pro1678Arg)
c.5189C>G (p.Pro1730Arg)
c.5396C>G (p.Pro1799Arg)
c.4697C>G (p.Pro1566Arg)
c.5444C>G (p.Pro1815Arg)
dbSNP
16g.3729597G>TCA394556342CREBBPc.5450C>A (p.Pro1817Gln)
c.5336C>A (p.Pro1779Gln)
c.5405C>A (p.Pro1802Gln)
c.5033C>A (p.Pro1678Gln)
c.5189C>A (p.Pro1730Gln)
c.5396C>A (p.Pro1799Gln)
c.4697C>A (p.Pro1566Gln)
c.5444C>A (p.Pro1815Gln)
dbSNP
16g.3729598G>ACA394556348CREBBPc.5449C>T (p.Pro1817Ser)
c.5335C>T (p.Pro1779Ser)
c.5404C>T (p.Pro1802Ser)
c.5032C>T (p.Pro1678Ser)
c.5188C>T (p.Pro1730Ser)
c.5395C>T (p.Pro1799Ser)
c.4696C>T (p.Pro1566Ser)
c.5443C>T (p.Pro1815Ser)
dbSNP
16g.3729598G>CCA394556346CREBBPc.5449C>G (p.Pro1817Ala)
c.5335C>G (p.Pro1779Ala)
c.5404C>G (p.Pro1802Ala)
c.5032C>G (p.Pro1678Ala)
c.5188C>G (p.Pro1730Ala)
c.5395C>G (p.Pro1799Ala)
c.4696C>G (p.Pro1566Ala)
c.5443C>G (p.Pro1815Ala)
dbSNP
16g.3729598G>TCA394556344CREBBPc.5449C>A (p.Pro1817Thr)
c.5335C>A (p.Pro1779Thr)
c.5404C>A (p.Pro1802Thr)
c.5032C>A (p.Pro1678Thr)
c.5188C>A (p.Pro1730Thr)
c.5395C>A (p.Pro1799Thr)
c.4696C>A (p.Pro1566Thr)
c.5443C>A (p.Pro1815Thr)
dbSNP
16g.3729599G>ACA493394365CREBBPc.5448C>T (p.Cys1816=)
c.5334C>T (p.Cys1778=)
c.5403C>T (p.Cys1801=)
c.5031C>T (p.Cys1677=)
c.5187C>T (p.Cys1729=)
c.5394C>T (p.Cys1798=)
c.4695C>T (p.Cys1565=)
c.5442C>T (p.Cys1814=)
dbSNP
16g.3729599G>CCA394556350CREBBPc.5448C>G (p.Cys1816Trp)
c.5334C>G (p.Cys1778Trp)
c.5403C>G (p.Cys1801Trp)
c.5031C>G (p.Cys1677Trp)
c.5187C>G (p.Cys1729Trp)
c.5394C>G (p.Cys1798Trp)
c.4695C>G (p.Cys1565Trp)
c.5442C>G (p.Cys1814Trp)
dbSNP
16g.3729599G>TCA394556352CREBBPc.5448C>A (p.Cys1816Ter)
c.5334C>A (p.Cys1778Ter)
c.5403C>A (p.Cys1801Ter)
c.5031C>A (p.Cys1677Ter)
c.5187C>A (p.Cys1729Ter)
c.5394C>A (p.Cys1798Ter)
c.4695C>A (p.Cys1565Ter)
c.5442C>A (p.Cys1814Ter)
dbSNP
16g.3729600C>ACA394556354CREBBPc.5447G>T (p.Cys1816Phe)
c.5333G>T (p.Cys1778Phe)
c.5402G>T (p.Cys1801Phe)
c.5030G>T (p.Cys1677Phe)
c.5186G>T (p.Cys1729Phe)
c.5393G>T (p.Cys1798Phe)
c.4694G>T (p.Cys1565Phe)
c.5441G>T (p.Cys1814Phe)
dbSNP COSMIC
16g.3729600C>GCA394556355CREBBPc.5447G>C (p.Cys1816Ser)
c.5333G>C (p.Cys1778Ser)
c.5402G>C (p.Cys1801Ser)
c.5030G>C (p.Cys1677Ser)
c.5186G>C (p.Cys1729Ser)
c.5393G>C (p.Cys1798Ser)
c.4694G>C (p.Cys1565Ser)
c.5441G>C (p.Cys1814Ser)
dbSNP
16g.3729600C>TCA394556357CREBBPc.5447G>A (p.Cys1816Tyr)
c.5333G>A (p.Cys1778Tyr)
c.5402G>A (p.Cys1801Tyr)
c.5030G>A (p.Cys1677Tyr)
c.5186G>A (p.Cys1729Tyr)
c.5393G>A (p.Cys1798Tyr)
c.4694G>A (p.Cys1565Tyr)
c.5441G>A (p.Cys1814Tyr)
dbSNP
16g.3729601A>CCA394556359CREBBPc.5446T>G (p.Cys1816Gly)
c.5332T>G (p.Cys1778Gly)
c.5401T>G (p.Cys1801Gly)
c.5029T>G (p.Cys1677Gly)
c.5185T>G (p.Cys1729Gly)
c.5392T>G (p.Cys1798Gly)
c.4693T>G (p.Cys1565Gly)
c.5440T>G (p.Cys1814Gly)
dbSNP
16g.3729601A>GCA394556361CREBBPc.5446T>C (p.Cys1816Arg)
c.5332T>C (p.Cys1778Arg)
c.5401T>C (p.Cys1801Arg)
c.5029T>C (p.Cys1677Arg)
c.5185T>C (p.Cys1729Arg)
c.5392T>C (p.Cys1798Arg)
c.4693T>C (p.Cys1565Arg)
c.5440T>C (p.Cys1814Arg)
dbSNP
16g.3729601A>TCA394556362CREBBPc.5446T>A (p.Cys1816Ser)
c.5332T>A (p.Cys1778Ser)
c.5401T>A (p.Cys1801Ser)
c.5029T>A (p.Cys1677Ser)
c.5185T>A (p.Cys1729Ser)
c.5392T>A (p.Cys1798Ser)
c.4693T>A (p.Cys1565Ser)
c.5440T>A (p.Cys1814Ser)
dbSNP
16g.3729601_3729602insCTGCCAAGAAAACAAATCA2805632981CREBBPc.5445_5446insATTTGTTTTCTTGGCAG (p.Cys1816IlefsTer?)
c.5331_5332insATTTGTTTTCTTGGCAG (p.Cys1778IlefsTer?)
c.5400_5401insATTTGTTTTCTTGGCAG (p.Cys1801IlefsTer?)
c.5028_5029insATTTGTTTTCTTGGCAG (p.Cys1677IlefsTer?)
c.5184_5185insATTTGTTTTCTTGGCAG (p.Cys1729IlefsTer?)
c.5391_5392insATTTGTTTTCTTGGCAG (p.Cys1798IlefsTer?)
c.4692_4693insATTTGTTTTCTTGGCAG (p.Cys1565IlefsTer?)
c.5439_5440insATTTGTTTTCTTGGCAG (p.Cys1814IlefsTer?)
16g.3729602G>ACA493394366CREBBPc.5445C>T (p.Gly1815=)
c.5331C>T (p.Gly1777=)
c.5400C>T (p.Gly1800=)
c.5028C>T (p.Gly1676=)
c.5184C>T (p.Gly1728=)
c.5391C>T (p.Gly1797=)
c.4692C>T (p.Gly1564=)
c.5439C>T (p.Gly1813=)
16g.3729602G>CCA493394367CREBBPc.5445C>G (p.Gly1815=)
c.5331C>G (p.Gly1777=)
c.5400C>G (p.Gly1800=)
c.5028C>G (p.Gly1676=)
c.5184C>G (p.Gly1728=)
c.5391C>G (p.Gly1797=)
c.4692C>G (p.Gly1564=)
c.5439C>G (p.Gly1813=)
16g.3729602G>TCA493394368CREBBPc.5445C>A (p.Gly1815=)
c.5331C>A (p.Gly1777=)
c.5400C>A (p.Gly1800=)
c.5028C>A (p.Gly1676=)
c.5184C>A (p.Gly1728=)
c.5391C>A (p.Gly1797=)
c.4692C>A (p.Gly1564=)
c.5439C>A (p.Gly1813=)
dbSNP
16g.3729603C>ACA394556365CREBBPc.5444G>T (p.Gly1815Val)
c.5330G>T (p.Gly1777Val)
c.5399G>T (p.Gly1800Val)
c.5027G>T (p.Gly1676Val)
c.5183G>T (p.Gly1728Val)
c.5390G>T (p.Gly1797Val)
c.4691G>T (p.Gly1564Val)
c.5438G>T (p.Gly1813Val)
dbSNP
16g.3729603C>GCA394556367CREBBPc.5444G>C (p.Gly1815Ala)
c.5330G>C (p.Gly1777Ala)
c.5399G>C (p.Gly1800Ala)
c.5027G>C (p.Gly1676Ala)
c.5183G>C (p.Gly1728Ala)
c.5390G>C (p.Gly1797Ala)
c.4691G>C (p.Gly1564Ala)
c.5438G>C (p.Gly1813Ala)
dbSNP
16g.3729603C>TCA394556369CREBBPc.5444G>A (p.Gly1815Asp)
c.5330G>A (p.Gly1777Asp)
c.5399G>A (p.Gly1800Asp)
c.5027G>A (p.Gly1676Asp)
c.5183G>A (p.Gly1728Asp)
c.5390G>A (p.Gly1797Asp)
c.4691G>A (p.Gly1564Asp)
c.5438G>A (p.Gly1813Asp)
dbSNP COSMIC
16g.3729604C>ACA394556371CREBBPc.5443G>T (p.Gly1815Cys)
c.5329G>T (p.Gly1777Cys)
c.5398G>T (p.Gly1800Cys)
c.5026G>T (p.Gly1676Cys)
c.5182G>T (p.Gly1728Cys)
c.5389G>T (p.Gly1797Cys)
c.4690G>T (p.Gly1564Cys)
c.5437G>T (p.Gly1813Cys)
dbSNP
16g.3729604C=CA2202916463CREBBPc.5443G= (p.Gly1815=)
c.5329G= (p.Gly1777=)
c.5398G= (p.Gly1800=)
c.5026G= (p.Gly1676=)
c.5182G= (p.Gly1728=)
c.5389G= (p.Gly1797=)
c.4690G= (p.Gly1564=)
c.5437G= (p.Gly1813=)
16g.3729604C>GCA394556373CREBBPc.5443G>C (p.Gly1815Arg)
c.5329G>C (p.Gly1777Arg)
c.5398G>C (p.Gly1800Arg)
c.5026G>C (p.Gly1676Arg)
c.5182G>C (p.Gly1728Arg)
c.5389G>C (p.Gly1797Arg)
c.4690G>C (p.Gly1564Arg)
c.5437G>C (p.Gly1813Arg)
16g.3729604C>TCA394556375CREBBPc.5443G>A (p.Gly1815Ser)
c.5329G>A (p.Gly1777Ser)
c.5398G>A (p.Gly1800Ser)
c.5026G>A (p.Gly1676Ser)
c.5182G>A (p.Gly1728Ser)
c.5389G>A (p.Gly1797Ser)
c.4690G>A (p.Gly1564Ser)
c.5437G>A (p.Gly1813Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729605C>ACA493394369CREBBPc.5442G>T (p.Gly1814=)
c.5328G>T (p.Gly1776=)
c.5397G>T (p.Gly1799=)
c.5025G>T (p.Gly1675=)
c.5181G>T (p.Gly1727=)
c.5388G>T (p.Gly1796=)
c.4689G>T (p.Gly1563=)
c.5436G>T (p.Gly1812=)
dbSNP gnomAD v4
16g.3729605C=CA2202916464CREBBPc.5442G= (p.Gly1814=)
c.5328G= (p.Gly1776=)
c.5397G= (p.Gly1799=)
c.5025G= (p.Gly1675=)
c.5181G= (p.Gly1727=)
c.5388G= (p.Gly1796=)
c.4689G= (p.Gly1563=)
c.5436G= (p.Gly1812=)
16g.3729605C>GCA493394370CREBBPc.5442G>C (p.Gly1814=)
c.5328G>C (p.Gly1776=)
c.5397G>C (p.Gly1799=)
c.5025G>C (p.Gly1675=)
c.5181G>C (p.Gly1727=)
c.5388G>C (p.Gly1796=)
c.4689G>C (p.Gly1563=)
c.5436G>C (p.Gly1812=)
dbSNP
16g.3729605C>TCA276972238CREBBPc.5442G>A (p.Gly1814=)
c.5328G>A (p.Gly1776=)
c.5397G>A (p.Gly1799=)
c.5025G>A (p.Gly1675=)
c.5181G>A (p.Gly1727=)
c.5388G>A (p.Gly1796=)
c.4689G>A (p.Gly1563=)
c.5436G>A (p.Gly1812=)
dbSNP
16g.3729606C>ACA394556379CREBBPc.5441G>T (p.Gly1814Val)
c.5327G>T (p.Gly1776Val)
c.5396G>T (p.Gly1799Val)
c.5024G>T (p.Gly1675Val)
c.5180G>T (p.Gly1727Val)
c.5387G>T (p.Gly1796Val)
c.4688G>T (p.Gly1563Val)
c.5435G>T (p.Gly1812Val)
16g.3729606C=CA2202916465CREBBPc.5441G= (p.Gly1814=)
c.5327G= (p.Gly1776=)
c.5396G= (p.Gly1799=)
c.5024G= (p.Gly1675=)
c.5180G= (p.Gly1727=)
c.5387G= (p.Gly1796=)
c.4688G= (p.Gly1563=)
c.5435G= (p.Gly1812=)
16g.3729606C>GCA7869280CREBBPc.5441G>C (p.Gly1814Ala)
c.5327G>C (p.Gly1776Ala)
c.5396G>C (p.Gly1799Ala)
c.5024G>C (p.Gly1675Ala)
c.5180G>C (p.Gly1727Ala)
c.5387G>C (p.Gly1796Ala)
c.4688G>C (p.Gly1563Ala)
c.5435G>C (p.Gly1812Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729606C>TCA394556377CREBBPc.5441G>A (p.Gly1814Glu)
c.5327G>A (p.Gly1776Glu)
c.5396G>A (p.Gly1799Glu)
c.5024G>A (p.Gly1675Glu)
c.5180G>A (p.Gly1727Glu)
c.5387G>A (p.Gly1796Glu)
c.4688G>A (p.Gly1563Glu)
c.5435G>A (p.Gly1812Glu)
16g.3729607C>ACA7869281CREBBPc.5440G>T (p.Gly1814Trp)
c.5326G>T (p.Gly1776Trp)
c.5395G>T (p.Gly1799Trp)
c.5023G>T (p.Gly1675Trp)
c.5179G>T (p.Gly1727Trp)
c.5386G>T (p.Gly1796Trp)
c.4687G>T (p.Gly1563Trp)
c.5434G>T (p.Gly1812Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729607C=CA2202916466CREBBPc.5440G= (p.Gly1814=)
c.5326G= (p.Gly1776=)
c.5395G= (p.Gly1799=)
c.5023G= (p.Gly1675=)
c.5179G= (p.Gly1727=)
c.5386G= (p.Gly1796=)
c.4687G= (p.Gly1563=)
c.5434G= (p.Gly1812=)
16g.3729607C>GCA394556384CREBBPc.5440G>C (p.Gly1814Arg)
c.5326G>C (p.Gly1776Arg)
c.5395G>C (p.Gly1799Arg)
c.5023G>C (p.Gly1675Arg)
c.5179G>C (p.Gly1727Arg)
c.5386G>C (p.Gly1796Arg)
c.4687G>C (p.Gly1563Arg)
c.5434G>C (p.Gly1812Arg)
dbSNP
16g.3729607C>TCA394556386CREBBPc.5440G>A (p.Gly1814Arg)
c.5326G>A (p.Gly1776Arg)
c.5395G>A (p.Gly1799Arg)
c.5023G>A (p.Gly1675Arg)
c.5179G>A (p.Gly1727Arg)
c.5386G>A (p.Gly1796Arg)
c.4687G>A (p.Gly1563Arg)
c.5434G>A (p.Gly1812Arg)
ClinVar dbSNP gnomAD v4 COSMIC
16g.3729608G>ACA276972245CREBBPc.5439C>T (p.Asn1813=)
c.5325C>T (p.Asn1775=)
c.5394C>T (p.Asn1798=)
c.5022C>T (p.Asn1674=)
c.5178C>T (p.Asn1726=)
c.5385C>T (p.Asn1795=)
c.4686C>T (p.Asn1562=)
c.5433C>T (p.Asn1811=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729608G>CCA394556389CREBBPc.5439C>G (p.Asn1813Lys)
c.5325C>G (p.Asn1775Lys)
c.5394C>G (p.Asn1798Lys)
c.5022C>G (p.Asn1674Lys)
c.5178C>G (p.Asn1726Lys)
c.5385C>G (p.Asn1795Lys)
c.4686C>G (p.Asn1562Lys)
c.5433C>G (p.Asn1811Lys)
ClinVar dbSNP
16g.3729608G=CA2202916467CREBBPc.5439C= (p.Asn1813=)
c.5325C= (p.Asn1775=)
c.5394C= (p.Asn1798=)
c.5022C= (p.Asn1674=)
c.5178C= (p.Asn1726=)
c.5385C= (p.Asn1795=)
c.4686C= (p.Asn1562=)
c.5433C= (p.Asn1811=)
16g.3729608G>TCA394556390CREBBPc.5439C>A (p.Asn1813Lys)
c.5325C>A (p.Asn1775Lys)
c.5394C>A (p.Asn1798Lys)
c.5022C>A (p.Asn1674Lys)
c.5178C>A (p.Asn1726Lys)
c.5385C>A (p.Asn1795Lys)
c.4686C>A (p.Asn1562Lys)
c.5433C>A (p.Asn1811Lys)
dbSNP
16g.3729609T>ACA394556395CREBBPc.5438A>T (p.Asn1813Ile)
c.5324A>T (p.Asn1775Ile)
c.5393A>T (p.Asn1798Ile)
c.5021A>T (p.Asn1674Ile)
c.5177A>T (p.Asn1726Ile)
c.5384A>T (p.Asn1795Ile)
c.4685A>T (p.Asn1562Ile)
c.5432A>T (p.Asn1811Ile)
dbSNP
16g.3729609T>CCA394556397CREBBPc.5438A>G (p.Asn1813Ser)
c.5324A>G (p.Asn1775Ser)
c.5393A>G (p.Asn1798Ser)
c.5021A>G (p.Asn1674Ser)
c.5177A>G (p.Asn1726Ser)
c.5384A>G (p.Asn1795Ser)
c.4685A>G (p.Asn1562Ser)
c.5432A>G (p.Asn1811Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729609T>GCA394556399CREBBPc.5438A>C (p.Asn1813Thr)
c.5324A>C (p.Asn1775Thr)
c.5393A>C (p.Asn1798Thr)
c.5021A>C (p.Asn1674Thr)
c.5177A>C (p.Asn1726Thr)
c.5384A>C (p.Asn1795Thr)
c.4685A>C (p.Asn1562Thr)
c.5432A>C (p.Asn1811Thr)
dbSNP
16g.3729609T=CA2202916468CREBBPc.5438A= (p.Asn1813=)
c.5324A= (p.Asn1775=)
c.5393A= (p.Asn1798=)
c.5021A= (p.Asn1674=)
c.5177A= (p.Asn1726=)
c.5384A= (p.Asn1795=)
c.4685A= (p.Asn1562=)
c.5432A= (p.Asn1811=)
16g.3729610T>ACA394556402CREBBPc.5437A>T (p.Asn1813Tyr)
c.5323A>T (p.Asn1775Tyr)
c.5392A>T (p.Asn1798Tyr)
c.5020A>T (p.Asn1674Tyr)
c.5176A>T (p.Asn1726Tyr)
c.5383A>T (p.Asn1795Tyr)
c.4684A>T (p.Asn1562Tyr)
c.5431A>T (p.Asn1811Tyr)
dbSNP
16g.3729610T>CCA394556403CREBBPc.5437A>G (p.Asn1813Asp)
c.5323A>G (p.Asn1775Asp)
c.5392A>G (p.Asn1798Asp)
c.5020A>G (p.Asn1674Asp)
c.5176A>G (p.Asn1726Asp)
c.5383A>G (p.Asn1795Asp)
c.4684A>G (p.Asn1562Asp)
c.5431A>G (p.Asn1811Asp)
dbSNP
16g.3729610T>GCA394556405CREBBPc.5437A>C (p.Asn1813His)
c.5323A>C (p.Asn1775His)
c.5392A>C (p.Asn1798His)
c.5020A>C (p.Asn1674His)
c.5176A>C (p.Asn1726His)
c.5383A>C (p.Asn1795His)
c.4684A>C (p.Asn1562His)
c.5431A>C (p.Asn1811His)
dbSNP
16g.3729611G>ACA493394371CREBBPc.5436C>T (p.Thr1812=)
c.5322C>T (p.Thr1774=)
c.5391C>T (p.Thr1797=)
c.5019C>T (p.Thr1673=)
c.5175C>T (p.Thr1725=)
c.5382C>T (p.Thr1794=)
c.4683C>T (p.Thr1561=)
c.5430C>T (p.Thr1810=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729611G>CCA148130CREBBPc.5436C>G (p.Thr1812=)
c.5322C>G (p.Thr1774=)
c.5391C>G (p.Thr1797=)
c.5019C>G (p.Thr1673=)
c.5175C>G (p.Thr1725=)
c.5382C>G (p.Thr1794=)
c.4683C>G (p.Thr1561=)
c.5430C>G (p.Thr1810=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729611G=CA2202916469CREBBPc.5436C= (p.Thr1812=)
c.5322C= (p.Thr1774=)
c.5391C= (p.Thr1797=)
c.5019C= (p.Thr1673=)
c.5175C= (p.Thr1725=)
c.5382C= (p.Thr1794=)
c.4683C= (p.Thr1561=)
c.5430C= (p.Thr1810=)
16g.3729611G>TCA493394372CREBBPc.5436C>A (p.Thr1812=)
c.5322C>A (p.Thr1774=)
c.5391C>A (p.Thr1797=)
c.5019C>A (p.Thr1673=)
c.5175C>A (p.Thr1725=)
c.5382C>A (p.Thr1794=)
c.4683C>A (p.Thr1561=)
c.5430C>A (p.Thr1810=)
dbSNP gnomAD v4
16g.3729612G>ACA394556412CREBBPc.5435C>T (p.Thr1812Ile)
c.5321C>T (p.Thr1774Ile)
c.5390C>T (p.Thr1797Ile)
c.5018C>T (p.Thr1673Ile)
c.5174C>T (p.Thr1725Ile)
c.5381C>T (p.Thr1794Ile)
c.4682C>T (p.Thr1561Ile)
c.5429C>T (p.Thr1810Ile)
dbSNP
16g.3729612G>CCA394556409CREBBPc.5435C>G (p.Thr1812Ser)
c.5321C>G (p.Thr1774Ser)
c.5390C>G (p.Thr1797Ser)
c.5018C>G (p.Thr1673Ser)
c.5174C>G (p.Thr1725Ser)
c.5381C>G (p.Thr1794Ser)
c.4682C>G (p.Thr1561Ser)
c.5429C>G (p.Thr1810Ser)
dbSNP
16g.3729612G>TCA394556410CREBBPc.5435C>A (p.Thr1812Asn)
c.5321C>A (p.Thr1774Asn)
c.5390C>A (p.Thr1797Asn)
c.5018C>A (p.Thr1673Asn)
c.5174C>A (p.Thr1725Asn)
c.5381C>A (p.Thr1794Asn)
c.4682C>A (p.Thr1561Asn)
c.5429C>A (p.Thr1810Asn)
16g.3729613T>ACA394556415CREBBPc.5434A>T (p.Thr1812Ser)
c.5320A>T (p.Thr1774Ser)
c.5389A>T (p.Thr1797Ser)
c.5017A>T (p.Thr1673Ser)
c.5173A>T (p.Thr1725Ser)
c.5380A>T (p.Thr1794Ser)
c.4681A>T (p.Thr1561Ser)
c.5428A>T (p.Thr1810Ser)
dbSNP
16g.3729613T>CCA394556417CREBBPc.5434A>G (p.Thr1812Ala)
c.5320A>G (p.Thr1774Ala)
c.5389A>G (p.Thr1797Ala)
c.5017A>G (p.Thr1673Ala)
c.5173A>G (p.Thr1725Ala)
c.5380A>G (p.Thr1794Ala)
c.4681A>G (p.Thr1561Ala)
c.5428A>G (p.Thr1810Ala)
dbSNP
16g.3729613T>GCA394556418CREBBPc.5434A>C (p.Thr1812Pro)
c.5320A>C (p.Thr1774Pro)
c.5389A>C (p.Thr1797Pro)
c.5017A>C (p.Thr1673Pro)
c.5173A>C (p.Thr1725Pro)
c.5380A>C (p.Thr1794Pro)
c.4681A>C (p.Thr1561Pro)
c.5428A>C (p.Thr1810Pro)
dbSNP
16g.3729614C>ACA394556420CREBBPc.5433G>T (p.Lys1811Asn)
c.5319G>T (p.Lys1773Asn)
c.5388G>T (p.Lys1796Asn)
c.5016G>T (p.Lys1672Asn)
c.5172G>T (p.Lys1724Asn)
c.5379G>T (p.Lys1793Asn)
c.4680G>T (p.Lys1560Asn)
c.5427G>T (p.Lys1809Asn)
dbSNP
16g.3729614C>GCA394556422CREBBPc.5433G>C (p.Lys1811Asn)
c.5319G>C (p.Lys1773Asn)
c.5388G>C (p.Lys1796Asn)
c.5016G>C (p.Lys1672Asn)
c.5172G>C (p.Lys1724Asn)
c.5379G>C (p.Lys1793Asn)
c.4680G>C (p.Lys1560Asn)
c.5427G>C (p.Lys1809Asn)
dbSNP
16g.3729614C>TCA493394373CREBBPc.5433G>A (p.Lys1811=)
c.5319G>A (p.Lys1773=)
c.5388G>A (p.Lys1796=)
c.5016G>A (p.Lys1672=)
c.5172G>A (p.Lys1724=)
c.5379G>A (p.Lys1793=)
c.4680G>A (p.Lys1560=)
c.5427G>A (p.Lys1809=)
dbSNP COSMIC
16g.3729614_3729686delinsCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGCA2202916470CREBBPc.5361_5433delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1787=)
c.5247_5319delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1749=)
c.5316_5388delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1772=)
c.4944_5016delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1648=)
c.5100_5172delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1700=)
c.5307_5379delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1769=)
c.4608_4680delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1536=)
c.5355_5427delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1785=)
16g.3729615T>ACA394556425CREBBPc.5432A>T (p.Lys1811Met)
c.5318A>T (p.Lys1773Met)
c.5387A>T (p.Lys1796Met)
c.5015A>T (p.Lys1672Met)
c.5171A>T (p.Lys1724Met)
c.5378A>T (p.Lys1793Met)
c.4679A>T (p.Lys1560Met)
c.5426A>T (p.Lys1809Met)
dbSNP
16g.3729615T>CCA394556427CREBBPc.5432A>G (p.Lys1811Arg)
c.5318A>G (p.Lys1773Arg)
c.5387A>G (p.Lys1796Arg)
c.5015A>G (p.Lys1672Arg)
c.5171A>G (p.Lys1724Arg)
c.5378A>G (p.Lys1793Arg)
c.4679A>G (p.Lys1560Arg)
c.5426A>G (p.Lys1809Arg)
dbSNP
16g.3729615T>GCA394556428CREBBPc.5432A>C (p.Lys1811Thr)
c.5318A>C (p.Lys1773Thr)
c.5387A>C (p.Lys1796Thr)
c.5015A>C (p.Lys1672Thr)
c.5171A>C (p.Lys1724Thr)
c.5378A>C (p.Lys1793Thr)
c.4679A>C (p.Lys1560Thr)
c.5426A>C (p.Lys1809Thr)
16g.3729620_3729691delCA658658387CREBBPc.5361_5432del (p.Asn1787_Arg1810del)
c.5247_5318del (p.Asn1749_Arg1772del)
c.5316_5387del (p.Asn1772_Arg1795del)
c.4944_5015del (p.Asn1648_Arg1671del)
c.5100_5171del (p.Asn1700_Arg1723del)
c.5307_5378del (p.Asn1769_Arg1792del)
c.4608_4679del (p.Asn1536_Arg1559del)
c.5355_5426del (p.Asn1785_Arg1808del)
ClinVar dbSNP
16g.3729616T>ACA394556430CREBBPc.5431A>T (p.Lys1811Ter)
c.5317A>T (p.Lys1773Ter)
c.5386A>T (p.Lys1796Ter)
c.5014A>T (p.Lys1672Ter)
c.5170A>T (p.Lys1724Ter)
c.5377A>T (p.Lys1793Ter)
c.4678A>T (p.Lys1560Ter)
c.5425A>T (p.Lys1809Ter)
16g.3729616T>CCA394556431CREBBPc.5431A>G (p.Lys1811Glu)
c.5317A>G (p.Lys1773Glu)
c.5386A>G (p.Lys1796Glu)
c.5014A>G (p.Lys1672Glu)
c.5170A>G (p.Lys1724Glu)
c.5377A>G (p.Lys1793Glu)
c.4678A>G (p.Lys1560Glu)
c.5425A>G (p.Lys1809Glu)
dbSNP
16g.3729616T>GCA394556433CREBBPc.5431A>C (p.Lys1811Gln)
c.5317A>C (p.Lys1773Gln)
c.5386A>C (p.Lys1796Gln)
c.5014A>C (p.Lys1672Gln)
c.5170A>C (p.Lys1724Gln)
c.5377A>C (p.Lys1793Gln)
c.4678A>C (p.Lys1560Gln)
c.5425A>C (p.Lys1809Gln)
16g.3729617G>ACA493394374CREBBPc.5430C>T (p.Arg1810=)
c.5316C>T (p.Arg1772=)
c.5385C>T (p.Arg1795=)
c.5013C>T (p.Arg1671=)
c.5169C>T (p.Arg1723=)
c.5376C>T (p.Arg1792=)
c.4677C>T (p.Arg1559=)
c.5424C>T (p.Arg1808=)
dbSNP
16g.3729617G>CCA493394375CREBBPc.5430C>G (p.Arg1810=)
c.5316C>G (p.Arg1772=)
c.5385C>G (p.Arg1795=)
c.5013C>G (p.Arg1671=)
c.5169C>G (p.Arg1723=)
c.5376C>G (p.Arg1792=)
c.4677C>G (p.Arg1559=)
c.5424C>G (p.Arg1808=)
dbSNP
16g.3729617G>TCA493394376CREBBPc.5430C>A (p.Arg1810=)
c.5316C>A (p.Arg1772=)
c.5385C>A (p.Arg1795=)
c.5013C>A (p.Arg1671=)
c.5169C>A (p.Arg1723=)
c.5376C>A (p.Arg1792=)
c.4677C>A (p.Arg1559=)
c.5424C>A (p.Arg1808=)

Number of alleles fetched