Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3729039G>ACA394554619CREBBPc.6008C>T (p.Pro2003Leu)
c.5894C>T (p.Pro1965Leu)
c.5963C>T (p.Pro1988Leu)
c.5591C>T (p.Pro1864Leu)
c.5747C>T (p.Pro1916Leu)
c.5954C>T (p.Pro1985Leu)
c.5255C>T (p.Pro1752Leu)
c.6002C>T (p.Pro2001Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729039G>CCA394554621CREBBPc.6008C>G (p.Pro2003Arg)
c.5894C>G (p.Pro1965Arg)
c.5963C>G (p.Pro1988Arg)
c.5591C>G (p.Pro1864Arg)
c.5747C>G (p.Pro1916Arg)
c.5954C>G (p.Pro1985Arg)
c.5255C>G (p.Pro1752Arg)
c.6002C>G (p.Pro2001Arg)
16g.3729039G=CA2202916178CREBBPc.6008C= (p.Pro2003=)
c.5894C= (p.Pro1965=)
c.5963C= (p.Pro1988=)
c.5591C= (p.Pro1864=)
c.5747C= (p.Pro1916=)
c.5954C= (p.Pro1985=)
c.5255C= (p.Pro1752=)
c.6002C= (p.Pro2001=)
16g.3729039G>TCA394554623CREBBPc.6008C>A (p.Pro2003His)
c.5894C>A (p.Pro1965His)
c.5963C>A (p.Pro1988His)
c.5591C>A (p.Pro1864His)
c.5747C>A (p.Pro1916His)
c.5954C>A (p.Pro1985His)
c.5255C>A (p.Pro1752His)
c.6002C>A (p.Pro2001His)
dbSNP gnomAD v4
16g.3729040G>ACA394554626CREBBPc.6007C>T (p.Pro2003Ser)
c.5893C>T (p.Pro1965Ser)
c.5962C>T (p.Pro1988Ser)
c.5590C>T (p.Pro1864Ser)
c.5746C>T (p.Pro1916Ser)
c.5953C>T (p.Pro1985Ser)
c.5254C>T (p.Pro1752Ser)
c.6001C>T (p.Pro2001Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729040G>CCA394554628CREBBPc.6007C>G (p.Pro2003Ala)
c.5893C>G (p.Pro1965Ala)
c.5962C>G (p.Pro1988Ala)
c.5590C>G (p.Pro1864Ala)
c.5746C>G (p.Pro1916Ala)
c.5953C>G (p.Pro1985Ala)
c.5254C>G (p.Pro1752Ala)
c.6001C>G (p.Pro2001Ala)
dbSNP
16g.3729040G=CA2202916179CREBBPc.6007C= (p.Pro2003=)
c.5893C= (p.Pro1965=)
c.5962C= (p.Pro1988=)
c.5590C= (p.Pro1864=)
c.5746C= (p.Pro1916=)
c.5953C= (p.Pro1985=)
c.5254C= (p.Pro1752=)
c.6001C= (p.Pro2001=)
16g.3729040G>TCA394554631CREBBPc.6007C>A (p.Pro2003Thr)
c.5893C>A (p.Pro1965Thr)
c.5962C>A (p.Pro1988Thr)
c.5590C>A (p.Pro1864Thr)
c.5746C>A (p.Pro1916Thr)
c.5953C>A (p.Pro1985Thr)
c.5254C>A (p.Pro1752Thr)
c.6001C>A (p.Pro2001Thr)
dbSNP gnomAD v4
16g.3729041C>ACA7869200CREBBPc.6006G>T (p.Val2002=)
c.5892G>T (p.Val1964=)
c.5961G>T (p.Val1987=)
c.5589G>T (p.Val1863=)
c.5745G>T (p.Val1915=)
c.5952G>T (p.Val1984=)
c.5253G>T (p.Val1751=)
c.6000G>T (p.Val2000=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729041C=CA2202916180CREBBPc.6006G= (p.Val2002=)
c.5892G= (p.Val1964=)
c.5961G= (p.Val1987=)
c.5589G= (p.Val1863=)
c.5745G= (p.Val1915=)
c.5952G= (p.Val1984=)
c.5253G= (p.Val1751=)
c.6000G= (p.Val2000=)
16g.3729041C>GCA493394194CREBBPc.6006G>C (p.Val2002=)
c.5892G>C (p.Val1964=)
c.5961G>C (p.Val1987=)
c.5589G>C (p.Val1863=)
c.5745G>C (p.Val1915=)
c.5952G>C (p.Val1984=)
c.5253G>C (p.Val1751=)
c.6000G>C (p.Val2000=)
16g.3729041C>TCA493394195CREBBPc.6006G>A (p.Val2002=)
c.5892G>A (p.Val1964=)
c.5961G>A (p.Val1987=)
c.5589G>A (p.Val1863=)
c.5745G>A (p.Val1915=)
c.5952G>A (p.Val1984=)
c.5253G>A (p.Val1751=)
c.6000G>A (p.Val2000=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729043_3729044delCA2573102957CREBBPc.6005_6006del (p.Val2002AlafsTer?)
c.5891_5892del (p.Val1964AlafsTer?)
c.5960_5961del (p.Val1987AlafsTer?)
c.5588_5589del (p.Val1863AlafsTer?)
c.5744_5745del (p.Val1915AlafsTer?)
c.5951_5952del (p.Val1984AlafsTer?)
c.5252_5253del (p.Val1751AlafsTer?)
c.5999_6000del (p.Val2000AlafsTer?)
ClinVar
16g.3729042A=CA2202916181CREBBPc.6005T= (p.Val2002=)
c.5891T= (p.Val1964=)
c.5960T= (p.Val1987=)
c.5588T= (p.Val1863=)
c.5744T= (p.Val1915=)
c.5951T= (p.Val1984=)
c.5252T= (p.Val1751=)
c.5999T= (p.Val2000=)
16g.3729042A>CCA394554635CREBBPc.6005T>G (p.Val2002Gly)
c.5891T>G (p.Val1964Gly)
c.5960T>G (p.Val1987Gly)
c.5588T>G (p.Val1863Gly)
c.5744T>G (p.Val1915Gly)
c.5951T>G (p.Val1984Gly)
c.5252T>G (p.Val1751Gly)
c.5999T>G (p.Val2000Gly)
dbSNP
16g.3729042A>GCA394554636CREBBPc.6005T>C (p.Val2002Ala)
c.5891T>C (p.Val1964Ala)
c.5960T>C (p.Val1987Ala)
c.5588T>C (p.Val1863Ala)
c.5744T>C (p.Val1915Ala)
c.5951T>C (p.Val1984Ala)
c.5252T>C (p.Val1751Ala)
c.5999T>C (p.Val2000Ala)
dbSNP
16g.3729042A>TCA394554638CREBBPc.6005T>A (p.Val2002Glu)
c.5891T>A (p.Val1964Glu)
c.5960T>A (p.Val1987Glu)
c.5588T>A (p.Val1863Glu)
c.5744T>A (p.Val1915Glu)
c.5951T>A (p.Val1984Glu)
c.5252T>A (p.Val1751Glu)
c.5999T>A (p.Val2000Glu)
dbSNP gnomAD v4
16g.3729043C>ACA394554643CREBBPc.6004G>T (p.Val2002Leu)
c.5890G>T (p.Val1964Leu)
c.5959G>T (p.Val1987Leu)
c.5587G>T (p.Val1863Leu)
c.5743G>T (p.Val1915Leu)
c.5950G>T (p.Val1984Leu)
c.5251G>T (p.Val1751Leu)
c.5998G>T (p.Val2000Leu)
16g.3729043C=CA2202916182CREBBPc.6004G= (p.Val2002=)
c.5890G= (p.Val1964=)
c.5959G= (p.Val1987=)
c.5587G= (p.Val1863=)
c.5743G= (p.Val1915=)
c.5950G= (p.Val1984=)
c.5251G= (p.Val1751=)
c.5998G= (p.Val2000=)
16g.3729043C>GCA394554642CREBBPc.6004G>C (p.Val2002Leu)
c.5890G>C (p.Val1964Leu)
c.5959G>C (p.Val1987Leu)
c.5587G>C (p.Val1863Leu)
c.5743G>C (p.Val1915Leu)
c.5950G>C (p.Val1984Leu)
c.5251G>C (p.Val1751Leu)
c.5998G>C (p.Val2000Leu)
16g.3729043C>TCA394554640CREBBPc.6004G>A (p.Val2002Met)
c.5890G>A (p.Val1964Met)
c.5959G>A (p.Val1987Met)
c.5587G>A (p.Val1863Met)
c.5743G>A (p.Val1915Met)
c.5950G>A (p.Val1984Met)
c.5251G>A (p.Val1751Met)
c.5998G>A (p.Val2000Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729044A=CA2202916183CREBBPc.6003T= (p.Asn2001=)
c.5889T= (p.Asn1963=)
c.5958T= (p.Asn1986=)
c.5586T= (p.Asn1862=)
c.5742T= (p.Asn1914=)
c.5949T= (p.Asn1983=)
c.5250T= (p.Asn1750=)
c.5997T= (p.Asn1999=)
16g.3729044A>CCA394554648CREBBPc.6003T>G (p.Asn2001Lys)
c.5889T>G (p.Asn1963Lys)
c.5958T>G (p.Asn1986Lys)
c.5586T>G (p.Asn1862Lys)
c.5742T>G (p.Asn1914Lys)
c.5949T>G (p.Asn1983Lys)
c.5250T>G (p.Asn1750Lys)
c.5997T>G (p.Asn1999Lys)
dbSNP
16g.3729044A>GCA148136CREBBPc.6003T>C (p.Asn2001=)
c.5889T>C (p.Asn1963=)
c.5958T>C (p.Asn1986=)
c.5586T>C (p.Asn1862=)
c.5742T>C (p.Asn1914=)
c.5949T>C (p.Asn1983=)
c.5250T>C (p.Asn1750=)
c.5997T>C (p.Asn1999=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729044A>TCA394554646CREBBPc.6003T>A (p.Asn2001Lys)
c.5889T>A (p.Asn1963Lys)
c.5958T>A (p.Asn1986Lys)
c.5586T>A (p.Asn1862Lys)
c.5742T>A (p.Asn1914Lys)
c.5949T>A (p.Asn1983Lys)
c.5250T>A (p.Asn1750Lys)
c.5997T>A (p.Asn1999Lys)
dbSNP
16g.3729045T>ACA394554650CREBBPc.6002A>T (p.Asn2001Ile)
c.5888A>T (p.Asn1963Ile)
c.5957A>T (p.Asn1986Ile)
c.5585A>T (p.Asn1862Ile)
c.5741A>T (p.Asn1914Ile)
c.5948A>T (p.Asn1983Ile)
c.5249A>T (p.Asn1750Ile)
c.5996A>T (p.Asn1999Ile)
16g.3729045T>CCA394554652CREBBPc.6002A>G (p.Asn2001Ser)
c.5888A>G (p.Asn1963Ser)
c.5957A>G (p.Asn1986Ser)
c.5585A>G (p.Asn1862Ser)
c.5741A>G (p.Asn1914Ser)
c.5948A>G (p.Asn1983Ser)
c.5249A>G (p.Asn1750Ser)
c.5996A>G (p.Asn1999Ser)
dbSNP
16g.3729045T>GCA394554654CREBBPc.6002A>C (p.Asn2001Thr)
c.5888A>C (p.Asn1963Thr)
c.5957A>C (p.Asn1986Thr)
c.5585A>C (p.Asn1862Thr)
c.5741A>C (p.Asn1914Thr)
c.5948A>C (p.Asn1983Thr)
c.5249A>C (p.Asn1750Thr)
c.5996A>C (p.Asn1999Thr)
16g.3729046T>ACA394554656CREBBPc.6001A>T (p.Asn2001Tyr)
c.5887A>T (p.Asn1963Tyr)
c.5956A>T (p.Asn1986Tyr)
c.5584A>T (p.Asn1862Tyr)
c.5740A>T (p.Asn1914Tyr)
c.5947A>T (p.Asn1983Tyr)
c.5248A>T (p.Asn1750Tyr)
c.5995A>T (p.Asn1999Tyr)
dbSNP
16g.3729046T>CCA394554658CREBBPc.6001A>G (p.Asn2001Asp)
c.5887A>G (p.Asn1963Asp)
c.5956A>G (p.Asn1986Asp)
c.5584A>G (p.Asn1862Asp)
c.5740A>G (p.Asn1914Asp)
c.5947A>G (p.Asn1983Asp)
c.5248A>G (p.Asn1750Asp)
c.5995A>G (p.Asn1999Asp)
dbSNP gnomAD v4
16g.3729046T>GCA394554659CREBBPc.6001A>C (p.Asn2001His)
c.5887A>C (p.Asn1963His)
c.5956A>C (p.Asn1986His)
c.5584A>C (p.Asn1862His)
c.5740A>C (p.Asn1914His)
c.5947A>C (p.Asn1983His)
c.5248A>C (p.Asn1750His)
c.5995A>C (p.Asn1999His)
dbSNP gnomAD v2 gnomAD v4
16g.3729046T=CA2202916184CREBBPc.6001A= (p.Asn2001=)
c.5887A= (p.Asn1963=)
c.5956A= (p.Asn1986=)
c.5584A= (p.Asn1862=)
c.5740A= (p.Asn1914=)
c.5947A= (p.Asn1983=)
c.5248A= (p.Asn1750=)
c.5995A= (p.Asn1999=)
16g.3729047C>ACA493394204CREBBPc.6000G>T (p.Leu2000=)
c.5886G>T (p.Leu1962=)
c.5955G>T (p.Leu1985=)
c.5583G>T (p.Leu1861=)
c.5739G>T (p.Leu1913=)
c.5946G>T (p.Leu1982=)
c.5247G>T (p.Leu1749=)
c.5994G>T (p.Leu1998=)
dbSNP gnomAD v4
16g.3729047C=CA2202916185CREBBPc.6000G= (p.Leu2000=)
c.5886G= (p.Leu1962=)
c.5955G= (p.Leu1985=)
c.5583G= (p.Leu1861=)
c.5739G= (p.Leu1913=)
c.5946G= (p.Leu1982=)
c.5247G= (p.Leu1749=)
c.5994G= (p.Leu1998=)
16g.3729047C>GCA493394207CREBBPc.6000G>C (p.Leu2000=)
c.5886G>C (p.Leu1962=)
c.5955G>C (p.Leu1985=)
c.5583G>C (p.Leu1861=)
c.5739G>C (p.Leu1913=)
c.5946G>C (p.Leu1982=)
c.5247G>C (p.Leu1749=)
c.5994G>C (p.Leu1998=)
dbSNP gnomAD v2 gnomAD v4
16g.3729047C>TCA493394205CREBBPc.6000G>A (p.Leu2000=)
c.5886G>A (p.Leu1962=)
c.5955G>A (p.Leu1985=)
c.5583G>A (p.Leu1861=)
c.5739G>A (p.Leu1913=)
c.5946G>A (p.Leu1982=)
c.5247G>A (p.Leu1749=)
c.5994G>A (p.Leu1998=)
dbSNP gnomAD v4
16g.3729048A>CCA394554662CREBBPc.5999T>G (p.Leu2000Arg)
c.5885T>G (p.Leu1962Arg)
c.5954T>G (p.Leu1985Arg)
c.5582T>G (p.Leu1861Arg)
c.5738T>G (p.Leu1913Arg)
c.5945T>G (p.Leu1982Arg)
c.5246T>G (p.Leu1749Arg)
c.5993T>G (p.Leu1998Arg)
16g.3729048A>GCA394554664CREBBPc.5999T>C (p.Leu2000Pro)
c.5885T>C (p.Leu1962Pro)
c.5954T>C (p.Leu1985Pro)
c.5582T>C (p.Leu1861Pro)
c.5738T>C (p.Leu1913Pro)
c.5945T>C (p.Leu1982Pro)
c.5246T>C (p.Leu1749Pro)
c.5993T>C (p.Leu1998Pro)
gnomAD v4
16g.3729048A>TCA394554665CREBBPc.5999T>A (p.Leu2000Gln)
c.5885T>A (p.Leu1962Gln)
c.5954T>A (p.Leu1985Gln)
c.5582T>A (p.Leu1861Gln)
c.5738T>A (p.Leu1913Gln)
c.5945T>A (p.Leu1982Gln)
c.5246T>A (p.Leu1749Gln)
c.5993T>A (p.Leu1998Gln)
16g.3729049G>ACA493394208CREBBPc.5998C>T (p.Leu2000=)
c.5884C>T (p.Leu1962=)
c.5953C>T (p.Leu1985=)
c.5581C>T (p.Leu1861=)
c.5737C>T (p.Leu1913=)
c.5944C>T (p.Leu1982=)
c.5245C>T (p.Leu1749=)
c.5992C>T (p.Leu1998=)
dbSNP gnomAD v2
16g.3729049G>CCA394554668CREBBPc.5998C>G (p.Leu2000Val)
c.5884C>G (p.Leu1962Val)
c.5953C>G (p.Leu1985Val)
c.5581C>G (p.Leu1861Val)
c.5737C>G (p.Leu1913Val)
c.5944C>G (p.Leu1982Val)
c.5245C>G (p.Leu1749Val)
c.5992C>G (p.Leu1998Val)
dbSNP
16g.3729049G=CA2202916186CREBBPc.5998C= (p.Leu2000=)
c.5884C= (p.Leu1962=)
c.5953C= (p.Leu1985=)
c.5581C= (p.Leu1861=)
c.5737C= (p.Leu1913=)
c.5944C= (p.Leu1982=)
c.5245C= (p.Leu1749=)
c.5992C= (p.Leu1998=)
16g.3729049G>TCA394554670CREBBPc.5998C>A (p.Leu2000Met)
c.5884C>A (p.Leu1962Met)
c.5953C>A (p.Leu1985Met)
c.5581C>A (p.Leu1861Met)
c.5737C>A (p.Leu1913Met)
c.5944C>A (p.Leu1982Met)
c.5245C>A (p.Leu1749Met)
c.5992C>A (p.Leu1998Met)
dbSNP gnomAD v4
16g.3729050G>ACA493394209CREBBPc.5997C>T (p.Ser1999=)
c.5883C>T (p.Ser1961=)
c.5952C>T (p.Ser1984=)
c.5580C>T (p.Ser1860=)
c.5736C>T (p.Ser1912=)
c.5943C>T (p.Ser1981=)
c.5244C>T (p.Ser1748=)
c.5991C>T (p.Ser1997=)
dbSNP gnomAD v2 gnomAD v4
16g.3729050G>CCA394554674CREBBPc.5997C>G (p.Ser1999Arg)
c.5883C>G (p.Ser1961Arg)
c.5952C>G (p.Ser1984Arg)
c.5580C>G (p.Ser1860Arg)
c.5736C>G (p.Ser1912Arg)
c.5943C>G (p.Ser1981Arg)
c.5244C>G (p.Ser1748Arg)
c.5991C>G (p.Ser1997Arg)
dbSNP
16g.3729050G=CA2202916187CREBBPc.5997C= (p.Ser1999=)
c.5883C= (p.Ser1961=)
c.5952C= (p.Ser1984=)
c.5580C= (p.Ser1860=)
c.5736C= (p.Ser1912=)
c.5943C= (p.Ser1981=)
c.5244C= (p.Ser1748=)
c.5991C= (p.Ser1997=)
16g.3729050G>TCA394554672CREBBPc.5997C>A (p.Ser1999Arg)
c.5883C>A (p.Ser1961Arg)
c.5952C>A (p.Ser1984Arg)
c.5580C>A (p.Ser1860Arg)
c.5736C>A (p.Ser1912Arg)
c.5943C>A (p.Ser1981Arg)
c.5244C>A (p.Ser1748Arg)
c.5991C>A (p.Ser1997Arg)
gnomAD v4
16g.3729051C>ACA394554676CREBBPc.5996G>T (p.Ser1999Ile)
c.5882G>T (p.Ser1961Ile)
c.5951G>T (p.Ser1984Ile)
c.5579G>T (p.Ser1860Ile)
c.5735G>T (p.Ser1912Ile)
c.5942G>T (p.Ser1981Ile)
c.5243G>T (p.Ser1748Ile)
c.5990G>T (p.Ser1997Ile)
dbSNP gnomAD v4
16g.3729051C=CA2202916188CREBBPc.5996G= (p.Ser1999=)
c.5882G= (p.Ser1961=)
c.5951G= (p.Ser1984=)
c.5579G= (p.Ser1860=)
c.5735G= (p.Ser1912=)
c.5942G= (p.Ser1981=)
c.5243G= (p.Ser1748=)
c.5990G= (p.Ser1997=)
16g.3729051C>GCA394554678CREBBPc.5996G>C (p.Ser1999Thr)
c.5882G>C (p.Ser1961Thr)
c.5951G>C (p.Ser1984Thr)
c.5579G>C (p.Ser1860Thr)
c.5735G>C (p.Ser1912Thr)
c.5942G>C (p.Ser1981Thr)
c.5243G>C (p.Ser1748Thr)
c.5990G>C (p.Ser1997Thr)
ClinVar dbSNP gnomAD v4
16g.3729051C>TCA394554680CREBBPc.5996G>A (p.Ser1999Asn)
c.5882G>A (p.Ser1961Asn)
c.5951G>A (p.Ser1984Asn)
c.5579G>A (p.Ser1860Asn)
c.5735G>A (p.Ser1912Asn)
c.5942G>A (p.Ser1981Asn)
c.5243G>A (p.Ser1748Asn)
c.5990G>A (p.Ser1997Asn)
dbSNP
16g.3729052T>ACA394554682CREBBPc.5995A>T (p.Ser1999Cys)
c.5881A>T (p.Ser1961Cys)
c.5950A>T (p.Ser1984Cys)
c.5578A>T (p.Ser1860Cys)
c.5734A>T (p.Ser1912Cys)
c.5941A>T (p.Ser1981Cys)
c.5242A>T (p.Ser1748Cys)
c.5989A>T (p.Ser1997Cys)
dbSNP gnomAD v4
16g.3729052T>CCA394554684CREBBPc.5995A>G (p.Ser1999Gly)
c.5881A>G (p.Ser1961Gly)
c.5950A>G (p.Ser1984Gly)
c.5578A>G (p.Ser1860Gly)
c.5734A>G (p.Ser1912Gly)
c.5941A>G (p.Ser1981Gly)
c.5242A>G (p.Ser1748Gly)
c.5989A>G (p.Ser1997Gly)
dbSNP gnomAD v4
16g.3729052T>GCA394554686CREBBPc.5995A>C (p.Ser1999Arg)
c.5881A>C (p.Ser1961Arg)
c.5950A>C (p.Ser1984Arg)
c.5578A>C (p.Ser1860Arg)
c.5734A>C (p.Ser1912Arg)
c.5941A>C (p.Ser1981Arg)
c.5242A>C (p.Ser1748Arg)
c.5989A>C (p.Ser1997Arg)
16g.3729053C>ACA493394214CREBBPc.5994G>T (p.Val1998=)
c.5880G>T (p.Val1960=)
c.5949G>T (p.Val1983=)
c.5577G>T (p.Val1859=)
c.5733G>T (p.Val1911=)
c.5940G>T (p.Val1980=)
c.5241G>T (p.Val1747=)
c.5988G>T (p.Val1996=)
gnomAD v4
16g.3729053C>GCA493394215CREBBPc.5994G>C (p.Val1998=)
c.5880G>C (p.Val1960=)
c.5949G>C (p.Val1983=)
c.5577G>C (p.Val1859=)
c.5733G>C (p.Val1911=)
c.5940G>C (p.Val1980=)
c.5241G>C (p.Val1747=)
c.5988G>C (p.Val1996=)
16g.3729053C>TCA493394216CREBBPc.5994G>A (p.Val1998=)
c.5880G>A (p.Val1960=)
c.5949G>A (p.Val1983=)
c.5577G>A (p.Val1859=)
c.5733G>A (p.Val1911=)
c.5940G>A (p.Val1980=)
c.5241G>A (p.Val1747=)
c.5988G>A (p.Val1996=)
dbSNP gnomAD v4
16g.3729054A=CA2202916189CREBBPc.5993T= (p.Val1998=)
c.5879T= (p.Val1960=)
c.5948T= (p.Val1983=)
c.5576T= (p.Val1859=)
c.5732T= (p.Val1911=)
c.5939T= (p.Val1980=)
c.5240T= (p.Val1747=)
c.5987T= (p.Val1996=)
16g.3729054A>CCA394554688CREBBPc.5993T>G (p.Val1998Gly)
c.5879T>G (p.Val1960Gly)
c.5948T>G (p.Val1983Gly)
c.5576T>G (p.Val1859Gly)
c.5732T>G (p.Val1911Gly)
c.5939T>G (p.Val1980Gly)
c.5240T>G (p.Val1747Gly)
c.5987T>G (p.Val1996Gly)
dbSNP gnomAD v2 gnomAD v4
16g.3729054A>GCA394554689CREBBPc.5993T>C (p.Val1998Ala)
c.5879T>C (p.Val1960Ala)
c.5948T>C (p.Val1983Ala)
c.5576T>C (p.Val1859Ala)
c.5732T>C (p.Val1911Ala)
c.5939T>C (p.Val1980Ala)
c.5240T>C (p.Val1747Ala)
c.5987T>C (p.Val1996Ala)
dbSNP
16g.3729054A>TCA394554691CREBBPc.5993T>A (p.Val1998Glu)
c.5879T>A (p.Val1960Glu)
c.5948T>A (p.Val1983Glu)
c.5576T>A (p.Val1859Glu)
c.5732T>A (p.Val1911Glu)
c.5939T>A (p.Val1980Glu)
c.5240T>A (p.Val1747Glu)
c.5987T>A (p.Val1996Glu)
dbSNP
16g.3729055C>ACA7869201CREBBPc.5992G>T (p.Val1998Leu)
c.5878G>T (p.Val1960Leu)
c.5947G>T (p.Val1983Leu)
c.5575G>T (p.Val1859Leu)
c.5731G>T (p.Val1911Leu)
c.5938G>T (p.Val1980Leu)
c.5239G>T (p.Val1747Leu)
c.5986G>T (p.Val1996Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729055C=CA2202916190CREBBPc.5992G= (p.Val1998=)
c.5878G= (p.Val1960=)
c.5947G= (p.Val1983=)
c.5575G= (p.Val1859=)
c.5731G= (p.Val1911=)
c.5938G= (p.Val1980=)
c.5239G= (p.Val1747=)
c.5986G= (p.Val1996=)
16g.3729055C>GCA394554694CREBBPc.5992G>C (p.Val1998Leu)
c.5878G>C (p.Val1960Leu)
c.5947G>C (p.Val1983Leu)
c.5575G>C (p.Val1859Leu)
c.5731G>C (p.Val1911Leu)
c.5938G>C (p.Val1980Leu)
c.5239G>C (p.Val1747Leu)
c.5986G>C (p.Val1996Leu)
dbSNP
16g.3729055C>TCA7869202CREBBPc.5992G>A (p.Val1998Met)
c.5878G>A (p.Val1960Met)
c.5947G>A (p.Val1983Met)
c.5575G>A (p.Val1859Met)
c.5731G>A (p.Val1911Met)
c.5938G>A (p.Val1980Met)
c.5239G>A (p.Val1747Met)
c.5986G>A (p.Val1996Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729056G>ACA7869203CREBBPc.5991C>T (p.Pro1997=)
c.5877C>T (p.Pro1959=)
c.5946C>T (p.Pro1982=)
c.5574C>T (p.Pro1858=)
c.5730C>T (p.Pro1910=)
c.5937C>T (p.Pro1979=)
c.5238C>T (p.Pro1746=)
c.5985C>T (p.Pro1995=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729056G>CCA493394220CREBBPc.5991C>G (p.Pro1997=)
c.5877C>G (p.Pro1959=)
c.5946C>G (p.Pro1982=)
c.5574C>G (p.Pro1858=)
c.5730C>G (p.Pro1910=)
c.5937C>G (p.Pro1979=)
c.5238C>G (p.Pro1746=)
c.5985C>G (p.Pro1995=)
ClinVar dbSNP
16g.3729056G=CA2202916191CREBBPc.5991C= (p.Pro1997=)
c.5877C= (p.Pro1959=)
c.5946C= (p.Pro1982=)
c.5574C= (p.Pro1858=)
c.5730C= (p.Pro1910=)
c.5937C= (p.Pro1979=)
c.5238C= (p.Pro1746=)
c.5985C= (p.Pro1995=)
16g.3729056G>TCA493394221CREBBPc.5991C>A (p.Pro1997=)
c.5877C>A (p.Pro1959=)
c.5946C>A (p.Pro1982=)
c.5574C>A (p.Pro1858=)
c.5730C>A (p.Pro1910=)
c.5937C>A (p.Pro1979=)
c.5238C>A (p.Pro1746=)
c.5985C>A (p.Pro1995=)
dbSNP gnomAD v2 gnomAD v4
16g.3729060dupCA2695222621CREBBPc.5991dup (p.Val1998ArgfsTer?)
c.5877dup (p.Val1960ArgfsTer?)
c.5946dup (p.Val1983ArgfsTer?)
c.5574dup (p.Val1859ArgfsTer?)
c.5730dup (p.Val1911ArgfsTer?)
c.5937dup (p.Val1980ArgfsTer?)
c.5238dup (p.Val1747ArgfsTer?)
c.5985dup (p.Val1996ArgfsTer?)
16g.3729060delCA1139654949CREBBPc.5991del (p.Val1998Ter)
c.5877del (p.Val1960Ter)
c.5946del (p.Val1983Ter)
c.5574del (p.Val1859Ter)
c.5730del (p.Val1911Ter)
c.5937del (p.Val1980Ter)
c.5238del (p.Val1747Ter)
c.5985del (p.Val1996Ter)
ClinVar gnomAD v4
16g.3729057G>ACA7869204CREBBPc.5990C>T (p.Pro1997Leu)
c.5876C>T (p.Pro1959Leu)
c.5945C>T (p.Pro1982Leu)
c.5573C>T (p.Pro1858Leu)
c.5729C>T (p.Pro1910Leu)
c.5936C>T (p.Pro1979Leu)
c.5237C>T (p.Pro1746Leu)
c.5984C>T (p.Pro1995Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729057G>CCA394554700CREBBPc.5990C>G (p.Pro1997Arg)
c.5876C>G (p.Pro1959Arg)
c.5945C>G (p.Pro1982Arg)
c.5573C>G (p.Pro1858Arg)
c.5729C>G (p.Pro1910Arg)
c.5936C>G (p.Pro1979Arg)
c.5237C>G (p.Pro1746Arg)
c.5984C>G (p.Pro1995Arg)
16g.3729057G=CA2202916192CREBBPc.5990C= (p.Pro1997=)
c.5876C= (p.Pro1959=)
c.5945C= (p.Pro1982=)
c.5573C= (p.Pro1858=)
c.5729C= (p.Pro1910=)
c.5936C= (p.Pro1979=)
c.5237C= (p.Pro1746=)
c.5984C= (p.Pro1995=)
16g.3729057G>TCA394554697CREBBPc.5990C>A (p.Pro1997His)
c.5876C>A (p.Pro1959His)
c.5945C>A (p.Pro1982His)
c.5573C>A (p.Pro1858His)
c.5729C>A (p.Pro1910His)
c.5936C>A (p.Pro1979His)
c.5237C>A (p.Pro1746His)
c.5984C>A (p.Pro1995His)
gnomAD v4
16g.3729061_3729078dupCA2631403352CREBBPc.5973_5990dup (p.Pro1997_Val1998insGlySerGlnMetAlaPro)
c.5859_5876dup (p.Pro1959_Val1960insGlySerGlnMetAlaPro)
c.5928_5945dup (p.Pro1982_Val1983insGlySerGlnMetAlaPro)
c.5556_5573dup (p.Pro1858_Val1859insGlySerGlnMetAlaPro)
c.5712_5729dup (p.Pro1910_Val1911insGlySerGlnMetAlaPro)
c.5919_5936dup (p.Pro1979_Val1980insGlySerGlnMetAlaPro)
c.5220_5237dup (p.Pro1746_Val1747insGlySerGlnMetAlaPro)
c.5967_5984dup (p.Pro1995_Val1996insGlySerGlnMetAlaPro)
gnomAD v4
16g.3729058G>ACA394554702CREBBPc.5989C>T (p.Pro1997Ser)
c.5875C>T (p.Pro1959Ser)
c.5944C>T (p.Pro1982Ser)
c.5572C>T (p.Pro1858Ser)
c.5728C>T (p.Pro1910Ser)
c.5935C>T (p.Pro1979Ser)
c.5236C>T (p.Pro1746Ser)
c.5983C>T (p.Pro1995Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729058G>CCA394554705CREBBPc.5989C>G (p.Pro1997Ala)
c.5875C>G (p.Pro1959Ala)
c.5944C>G (p.Pro1982Ala)
c.5572C>G (p.Pro1858Ala)
c.5728C>G (p.Pro1910Ala)
c.5935C>G (p.Pro1979Ala)
c.5236C>G (p.Pro1746Ala)
c.5983C>G (p.Pro1995Ala)
dbSNP
16g.3729058G=CA2202916193CREBBPc.5989C= (p.Pro1997=)
c.5875C= (p.Pro1959=)
c.5944C= (p.Pro1982=)
c.5572C= (p.Pro1858=)
c.5728C= (p.Pro1910=)
c.5935C= (p.Pro1979=)
c.5236C= (p.Pro1746=)
c.5983C= (p.Pro1995=)
16g.3729058G>TCA394554704CREBBPc.5989C>A (p.Pro1997Thr)
c.5875C>A (p.Pro1959Thr)
c.5944C>A (p.Pro1982Thr)
c.5572C>A (p.Pro1858Thr)
c.5728C>A (p.Pro1910Thr)
c.5935C>A (p.Pro1979Thr)
c.5236C>A (p.Pro1746Thr)
c.5983C>A (p.Pro1995Thr)
dbSNP gnomAD v4
16g.3729059G>ACA148134CREBBPc.5988C>T (p.Ala1996=)
c.5874C>T (p.Ala1958=)
c.5943C>T (p.Ala1981=)
c.5571C>T (p.Ala1857=)
c.5727C>T (p.Ala1909=)
c.5934C>T (p.Ala1978=)
c.5235C>T (p.Ala1745=)
c.5982C>T (p.Ala1994=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729059G>CCA493394222CREBBPc.5988C>G (p.Ala1996=)
c.5874C>G (p.Ala1958=)
c.5943C>G (p.Ala1981=)
c.5571C>G (p.Ala1857=)
c.5727C>G (p.Ala1909=)
c.5934C>G (p.Ala1978=)
c.5235C>G (p.Ala1745=)
c.5982C>G (p.Ala1994=)
16g.3729059G=CA2202916194CREBBPc.5988C= (p.Ala1996=)
c.5874C= (p.Ala1958=)
c.5943C= (p.Ala1981=)
c.5571C= (p.Ala1857=)
c.5727C= (p.Ala1909=)
c.5934C= (p.Ala1978=)
c.5235C= (p.Ala1745=)
c.5982C= (p.Ala1994=)
16g.3729059G>TCA276971835CREBBPc.5988C>A (p.Ala1996=)
c.5874C>A (p.Ala1958=)
c.5943C>A (p.Ala1981=)
c.5571C>A (p.Ala1857=)
c.5727C>A (p.Ala1909=)
c.5934C>A (p.Ala1978=)
c.5235C>A (p.Ala1745=)
c.5982C>A (p.Ala1994=)
dbSNP gnomAD v4
16g.3729060G>ACA394554708CREBBPc.5987C>T (p.Ala1996Val)
c.5873C>T (p.Ala1958Val)
c.5942C>T (p.Ala1981Val)
c.5570C>T (p.Ala1857Val)
c.5726C>T (p.Ala1909Val)
c.5933C>T (p.Ala1978Val)
c.5234C>T (p.Ala1745Val)
c.5981C>T (p.Ala1994Val)
gnomAD v4
16g.3729060G>CCA394554710CREBBPc.5987C>G (p.Ala1996Gly)
c.5873C>G (p.Ala1958Gly)
c.5942C>G (p.Ala1981Gly)
c.5570C>G (p.Ala1857Gly)
c.5726C>G (p.Ala1909Gly)
c.5933C>G (p.Ala1978Gly)
c.5234C>G (p.Ala1745Gly)
c.5981C>G (p.Ala1994Gly)
16g.3729060G>TCA394554712CREBBPc.5987C>A (p.Ala1996Asp)
c.5873C>A (p.Ala1958Asp)
c.5942C>A (p.Ala1981Asp)
c.5570C>A (p.Ala1857Asp)
c.5726C>A (p.Ala1909Asp)
c.5933C>A (p.Ala1978Asp)
c.5234C>A (p.Ala1745Asp)
c.5981C>A (p.Ala1994Asp)
gnomAD v4
16g.3729060_3729061delinsGCCA2202916195CREBBPc.5986_5987delinsGC (p.Ala1996=)
c.5872_5873delinsGC (p.Ala1958=)
c.5941_5942delinsGC (p.Ala1981=)
c.5569_5570delinsGC (p.Ala1857=)
c.5725_5726delinsGC (p.Ala1909=)
c.5932_5933delinsGC (p.Ala1978=)
c.5233_5234delinsGC (p.Ala1745=)
c.5980_5981delinsGC (p.Ala1994=)
16g.3729061C>ACA394554713CREBBPc.5986G>T (p.Ala1996Ser)
c.5872G>T (p.Ala1958Ser)
c.5941G>T (p.Ala1981Ser)
c.5569G>T (p.Ala1857Ser)
c.5725G>T (p.Ala1909Ser)
c.5932G>T (p.Ala1978Ser)
c.5233G>T (p.Ala1745Ser)
c.5980G>T (p.Ala1994Ser)
dbSNP gnomAD v4
16g.3729061C=CA2202916196CREBBPc.5986G= (p.Ala1996=)
c.5872G= (p.Ala1958=)
c.5941G= (p.Ala1981=)
c.5569G= (p.Ala1857=)
c.5725G= (p.Ala1909=)
c.5932G= (p.Ala1978=)
c.5233G= (p.Ala1745=)
c.5980G= (p.Ala1994=)
16g.3729061C>GCA394554714CREBBPc.5986G>C (p.Ala1996Pro)
c.5872G>C (p.Ala1958Pro)
c.5941G>C (p.Ala1981Pro)
c.5569G>C (p.Ala1857Pro)
c.5725G>C (p.Ala1909Pro)
c.5932G>C (p.Ala1978Pro)
c.5233G>C (p.Ala1745Pro)
c.5980G>C (p.Ala1994Pro)
ClinVar dbSNP gnomAD v2
16g.3729061C>TCA394554715CREBBPc.5986G>A (p.Ala1996Thr)
c.5872G>A (p.Ala1958Thr)
c.5941G>A (p.Ala1981Thr)
c.5569G>A (p.Ala1857Thr)
c.5725G>A (p.Ala1909Thr)
c.5932G>A (p.Ala1978Thr)
c.5233G>A (p.Ala1745Thr)
c.5980G>A (p.Ala1994Thr)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3729062delCA915949064CREBBPc.5986del (p.Ala1996ProfsTer3)
c.5872del (p.Ala1958ProfsTer3)
c.5941del (p.Ala1981ProfsTer3)
c.5569del (p.Ala1857ProfsTer3)
c.5725del (p.Ala1909ProfsTer3)
c.5932del (p.Ala1978ProfsTer3)
c.5233del (p.Ala1745ProfsTer3)
c.5980del (p.Ala1994ProfsTer3)
ClinVar dbSNP
16g.3729062C>ACA394554716CREBBPc.5985G>T (p.Met1995Ile)
c.5871G>T (p.Met1957Ile)
c.5940G>T (p.Met1980Ile)
c.5568G>T (p.Met1856Ile)
c.5724G>T (p.Met1908Ile)
c.5931G>T (p.Met1977Ile)
c.5232G>T (p.Met1744Ile)
c.5979G>T (p.Met1993Ile)
dbSNP gnomAD v4
16g.3729062C>GCA394554717CREBBPc.5985G>C (p.Met1995Ile)
c.5871G>C (p.Met1957Ile)
c.5940G>C (p.Met1980Ile)
c.5568G>C (p.Met1856Ile)
c.5724G>C (p.Met1908Ile)
c.5931G>C (p.Met1977Ile)
c.5232G>C (p.Met1744Ile)
c.5979G>C (p.Met1993Ile)
16g.3729062C>TCA394554718CREBBPc.5985G>A (p.Met1995Ile)
c.5871G>A (p.Met1957Ile)
c.5940G>A (p.Met1980Ile)
c.5568G>A (p.Met1856Ile)
c.5724G>A (p.Met1908Ile)
c.5931G>A (p.Met1977Ile)
c.5232G>A (p.Met1744Ile)
c.5979G>A (p.Met1993Ile)
dbSNP
16g.3729063A>CCA394554723CREBBPc.5984T>G (p.Met1995Arg)
c.5870T>G (p.Met1957Arg)
c.5939T>G (p.Met1980Arg)
c.5567T>G (p.Met1856Arg)
c.5723T>G (p.Met1908Arg)
c.5930T>G (p.Met1977Arg)
c.5231T>G (p.Met1744Arg)
c.5978T>G (p.Met1993Arg)
dbSNP
16g.3729063A>GCA394554721CREBBPc.5984T>C (p.Met1995Thr)
c.5870T>C (p.Met1957Thr)
c.5939T>C (p.Met1980Thr)
c.5567T>C (p.Met1856Thr)
c.5723T>C (p.Met1908Thr)
c.5930T>C (p.Met1977Thr)
c.5231T>C (p.Met1744Thr)
c.5978T>C (p.Met1993Thr)
16g.3729063A>TCA394554720CREBBPc.5984T>A (p.Met1995Lys)
c.5870T>A (p.Met1957Lys)
c.5939T>A (p.Met1980Lys)
c.5567T>A (p.Met1856Lys)
c.5723T>A (p.Met1908Lys)
c.5930T>A (p.Met1977Lys)
c.5231T>A (p.Met1744Lys)
c.5978T>A (p.Met1993Lys)
dbSNP
16g.3729064T>ACA394554725CREBBPc.5983A>T (p.Met1995Leu)
c.5869A>T (p.Met1957Leu)
c.5938A>T (p.Met1980Leu)
c.5566A>T (p.Met1856Leu)
c.5722A>T (p.Met1908Leu)
c.5929A>T (p.Met1977Leu)
c.5230A>T (p.Met1744Leu)
c.5977A>T (p.Met1993Leu)
dbSNP
16g.3729064T>CCA394554726CREBBPc.5983A>G (p.Met1995Val)
c.5869A>G (p.Met1957Val)
c.5938A>G (p.Met1980Val)
c.5566A>G (p.Met1856Val)
c.5722A>G (p.Met1908Val)
c.5929A>G (p.Met1977Val)
c.5230A>G (p.Met1744Val)
c.5977A>G (p.Met1993Val)
dbSNP gnomAD v2 gnomAD v4
16g.3729064T>GCA394554728CREBBPc.5983A>C (p.Met1995Leu)
c.5869A>C (p.Met1957Leu)
c.5938A>C (p.Met1980Leu)
c.5566A>C (p.Met1856Leu)
c.5722A>C (p.Met1908Leu)
c.5929A>C (p.Met1977Leu)
c.5230A>C (p.Met1744Leu)
c.5977A>C (p.Met1993Leu)
16g.3729064T=CA2202916197CREBBPc.5983A= (p.Met1995=)
c.5869A= (p.Met1957=)
c.5938A= (p.Met1980=)
c.5566A= (p.Met1856=)
c.5722A= (p.Met1908=)
c.5929A= (p.Met1977=)
c.5230A= (p.Met1744=)
c.5977A= (p.Met1993=)
16g.3729065C>ACA394554731CREBBPc.5982G>T (p.Gln1994His)
c.5868G>T (p.Gln1956His)
c.5937G>T (p.Gln1979His)
c.5565G>T (p.Gln1855His)
c.5721G>T (p.Gln1907His)
c.5928G>T (p.Gln1976His)
c.5229G>T (p.Gln1743His)
c.5976G>T (p.Gln1992His)
dbSNP gnomAD v4
16g.3729065C=CA2202916198CREBBPc.5982G= (p.Gln1994=)
c.5868G= (p.Gln1956=)
c.5937G= (p.Gln1979=)
c.5565G= (p.Gln1855=)
c.5721G= (p.Gln1907=)
c.5928G= (p.Gln1976=)
c.5229G= (p.Gln1743=)
c.5976G= (p.Gln1992=)
16g.3729065C>GCA394554733CREBBPc.5982G>C (p.Gln1994His)
c.5868G>C (p.Gln1956His)
c.5937G>C (p.Gln1979His)
c.5565G>C (p.Gln1855His)
c.5721G>C (p.Gln1907His)
c.5928G>C (p.Gln1976His)
c.5229G>C (p.Gln1743His)
c.5976G>C (p.Gln1992His)
gnomAD v4 COSMIC
16g.3729065C>TCA7869205CREBBPc.5982G>A (p.Gln1994=)
c.5868G>A (p.Gln1956=)
c.5937G>A (p.Gln1979=)
c.5565G>A (p.Gln1855=)
c.5721G>A (p.Gln1907=)
c.5928G>A (p.Gln1976=)
c.5229G>A (p.Gln1743=)
c.5976G>A (p.Gln1992=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729066T>ACA394554736CREBBPc.5981A>T (p.Gln1994Leu)
c.5867A>T (p.Gln1956Leu)
c.5936A>T (p.Gln1979Leu)
c.5564A>T (p.Gln1855Leu)
c.5720A>T (p.Gln1907Leu)
c.5927A>T (p.Gln1976Leu)
c.5228A>T (p.Gln1743Leu)
c.5975A>T (p.Gln1992Leu)
dbSNP
16g.3729066T>CCA394554738CREBBPc.5981A>G (p.Gln1994Arg)
c.5867A>G (p.Gln1956Arg)
c.5936A>G (p.Gln1979Arg)
c.5564A>G (p.Gln1855Arg)
c.5720A>G (p.Gln1907Arg)
c.5927A>G (p.Gln1976Arg)
c.5228A>G (p.Gln1743Arg)
c.5975A>G (p.Gln1992Arg)
gnomAD v4
16g.3729066T>GCA394554740CREBBPc.5981A>C (p.Gln1994Pro)
c.5867A>C (p.Gln1956Pro)
c.5936A>C (p.Gln1979Pro)
c.5564A>C (p.Gln1855Pro)
c.5720A>C (p.Gln1907Pro)
c.5927A>C (p.Gln1976Pro)
c.5228A>C (p.Gln1743Pro)
c.5975A>C (p.Gln1992Pro)
gnomAD v4
16g.3729066_3729086delinsATGCCA2573152060CREBBPc.5961_5981delinsGCAT (p.Met1988HisfsTer?)
c.5847_5867delinsGCAT (p.Met1950HisfsTer?)
c.5916_5936delinsGCAT (p.Met1973HisfsTer?)
c.5544_5564delinsGCAT (p.Met1849HisfsTer?)
c.5700_5720delinsGCAT (p.Met1901HisfsTer?)
c.5907_5927delinsGCAT (p.Met1970HisfsTer?)
c.5208_5228delinsGCAT (p.Met1737HisfsTer?)
c.5955_5975delinsGCAT (p.Met1986HisfsTer?)
ClinVar dbSNP
16g.3729067G>ACA394554742CREBBPc.5980C>T (p.Gln1994Ter)
c.5866C>T (p.Gln1956Ter)
c.5935C>T (p.Gln1979Ter)
c.5563C>T (p.Gln1855Ter)
c.5719C>T (p.Gln1907Ter)
c.5926C>T (p.Gln1976Ter)
c.5227C>T (p.Gln1743Ter)
c.5974C>T (p.Gln1992Ter)
dbSNP
16g.3729067G>CCA394554744CREBBPc.5980C>G (p.Gln1994Glu)
c.5866C>G (p.Gln1956Glu)
c.5935C>G (p.Gln1979Glu)
c.5563C>G (p.Gln1855Glu)
c.5719C>G (p.Gln1907Glu)
c.5926C>G (p.Gln1976Glu)
c.5227C>G (p.Gln1743Glu)
c.5974C>G (p.Gln1992Glu)
gnomAD v4
16g.3729067G>TCA394554745CREBBPc.5980C>A (p.Gln1994Lys)
c.5866C>A (p.Gln1956Lys)
c.5935C>A (p.Gln1979Lys)
c.5563C>A (p.Gln1855Lys)
c.5719C>A (p.Gln1907Lys)
c.5926C>A (p.Gln1976Lys)
c.5227C>A (p.Gln1743Lys)
c.5974C>A (p.Gln1992Lys)
dbSNP gnomAD v4
16g.3729068G>ACA493394236CREBBPc.5979C>T (p.Ser1993=)
c.5865C>T (p.Ser1955=)
c.5934C>T (p.Ser1978=)
c.5562C>T (p.Ser1854=)
c.5718C>T (p.Ser1906=)
c.5925C>T (p.Ser1975=)
c.5226C>T (p.Ser1742=)
c.5973C>T (p.Ser1991=)
dbSNP gnomAD v4
16g.3729068G>CCA394554750CREBBPc.5979C>G (p.Ser1993Arg)
c.5865C>G (p.Ser1955Arg)
c.5934C>G (p.Ser1978Arg)
c.5562C>G (p.Ser1854Arg)
c.5718C>G (p.Ser1906Arg)
c.5925C>G (p.Ser1975Arg)
c.5226C>G (p.Ser1742Arg)
c.5973C>G (p.Ser1991Arg)
dbSNP
16g.3729068G>TCA394554748CREBBPc.5979C>A (p.Ser1993Arg)
c.5865C>A (p.Ser1955Arg)
c.5934C>A (p.Ser1978Arg)
c.5562C>A (p.Ser1854Arg)
c.5718C>A (p.Ser1906Arg)
c.5925C>A (p.Ser1975Arg)
c.5226C>A (p.Ser1742Arg)
c.5973C>A (p.Ser1991Arg)
gnomAD v4
16g.3729070_3729087delCA2580091138CREBBPc.5962_5979del (p.Met1988_Ser1993del)
c.5848_5865del (p.Met1950_Ser1955del)
c.5917_5934del (p.Met1973_Ser1978del)
c.5545_5562del (p.Met1849_Ser1854del)
c.5701_5718del (p.Met1901_Ser1906del)
c.5908_5925del (p.Met1970_Ser1975del)
c.5209_5226del (p.Met1737_Ser1742del)
c.5956_5973del (p.Met1986_Ser1991del)
ClinVar
16g.3729069C>ACA394554752CREBBPc.5978G>T (p.Ser1993Ile)
c.5864G>T (p.Ser1955Ile)
c.5933G>T (p.Ser1978Ile)
c.5561G>T (p.Ser1854Ile)
c.5717G>T (p.Ser1906Ile)
c.5924G>T (p.Ser1975Ile)
c.5225G>T (p.Ser1742Ile)
c.5972G>T (p.Ser1991Ile)
dbSNP
16g.3729069C>GCA394554754CREBBPc.5978G>C (p.Ser1993Thr)
c.5864G>C (p.Ser1955Thr)
c.5933G>C (p.Ser1978Thr)
c.5561G>C (p.Ser1854Thr)
c.5717G>C (p.Ser1906Thr)
c.5924G>C (p.Ser1975Thr)
c.5225G>C (p.Ser1742Thr)
c.5972G>C (p.Ser1991Thr)
dbSNP
16g.3729069C>TCA394554756CREBBPc.5978G>A (p.Ser1993Asn)
c.5864G>A (p.Ser1955Asn)
c.5933G>A (p.Ser1978Asn)
c.5561G>A (p.Ser1854Asn)
c.5717G>A (p.Ser1906Asn)
c.5924G>A (p.Ser1975Asn)
c.5225G>A (p.Ser1742Asn)
c.5972G>A (p.Ser1991Asn)
gnomAD v4
16g.3729069_3729078delinsCTCCCCGGGGCA2202916199CREBBPc.5969_5978delinsCCCCGGGGAG (p.Thr1990=)
c.5855_5864delinsCCCCGGGGAG (p.Thr1952=)
c.5924_5933delinsCCCCGGGGAG (p.Thr1975=)
c.5552_5561delinsCCCCGGGGAG (p.Thr1851=)
c.5708_5717delinsCCCCGGGGAG (p.Thr1903=)
c.5915_5924delinsCCCCGGGGAG (p.Thr1972=)
c.5216_5225delinsCCCCGGGGAG (p.Thr1739=)
c.5963_5972delinsCCCCGGGGAG (p.Thr1988=)
16g.3729070delCA2631403388CREBBPc.5977del (p.Ser1993AlafsTer6)
c.5863del (p.Ser1955AlafsTer6)
c.5932del (p.Ser1978AlafsTer6)
c.5560del (p.Ser1854AlafsTer6)
c.5716del (p.Ser1906AlafsTer6)
c.5923del (p.Ser1975AlafsTer6)
c.5224del (p.Ser1742AlafsTer6)
c.5971del (p.Ser1991AlafsTer6)
gnomAD v4
16g.3729070T>ACA394554757CREBBPc.5977A>T (p.Ser1993Cys)
c.5863A>T (p.Ser1955Cys)
c.5932A>T (p.Ser1978Cys)
c.5560A>T (p.Ser1854Cys)
c.5716A>T (p.Ser1906Cys)
c.5923A>T (p.Ser1975Cys)
c.5224A>T (p.Ser1742Cys)
c.5971A>T (p.Ser1991Cys)
16g.3729070T>CCA394554759CREBBPc.5977A>G (p.Ser1993Gly)
c.5863A>G (p.Ser1955Gly)
c.5932A>G (p.Ser1978Gly)
c.5560A>G (p.Ser1854Gly)
c.5716A>G (p.Ser1906Gly)
c.5923A>G (p.Ser1975Gly)
c.5224A>G (p.Ser1742Gly)
c.5971A>G (p.Ser1991Gly)
dbSNP
16g.3729070T>GCA394554761CREBBPc.5977A>C (p.Ser1993Arg)
c.5863A>C (p.Ser1955Arg)
c.5932A>C (p.Ser1978Arg)
c.5560A>C (p.Ser1854Arg)
c.5716A>C (p.Ser1906Arg)
c.5923A>C (p.Ser1975Arg)
c.5224A>C (p.Ser1742Arg)
c.5971A>C (p.Ser1991Arg)
16g.3729070T=CA2202916200CREBBPc.5977A= (p.Ser1993=)
c.5863A= (p.Ser1955=)
c.5932A= (p.Ser1978=)
c.5560A= (p.Ser1854=)
c.5716A= (p.Ser1906=)
c.5923A= (p.Ser1975=)
c.5224A= (p.Ser1742=)
c.5971A= (p.Ser1991=)
16g.3729075_3729083delCA243765CREBBPc.5969_5977del (p.Thr1990_Gly1992del)
c.5855_5863del (p.Thr1952_Gly1954del)
c.5924_5932del (p.Thr1975_Gly1977del)
c.5552_5560del (p.Thr1851_Gly1853del)
c.5708_5716del (p.Thr1903_Gly1905del)
c.5915_5923del (p.Thr1972_Gly1974del)
c.5216_5224del (p.Thr1739_Gly1741del)
c.5963_5971del (p.Thr1988_Gly1990del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729071C>ACA493394242CREBBPc.5976G>T (p.Gly1992=)
c.5862G>T (p.Gly1954=)
c.5931G>T (p.Gly1977=)
c.5559G>T (p.Gly1853=)
c.5715G>T (p.Gly1905=)
c.5922G>T (p.Gly1974=)
c.5223G>T (p.Gly1741=)
c.5970G>T (p.Gly1990=)
gnomAD v4
16g.3729071C>GCA493394239CREBBPc.5976G>C (p.Gly1992=)
c.5862G>C (p.Gly1954=)
c.5931G>C (p.Gly1977=)
c.5559G>C (p.Gly1853=)
c.5715G>C (p.Gly1905=)
c.5922G>C (p.Gly1974=)
c.5223G>C (p.Gly1741=)
c.5970G>C (p.Gly1990=)
dbSNP
16g.3729071C>TCA493394240CREBBPc.5976G>A (p.Gly1992=)
c.5862G>A (p.Gly1954=)
c.5931G>A (p.Gly1977=)
c.5559G>A (p.Gly1853=)
c.5715G>A (p.Gly1905=)
c.5922G>A (p.Gly1974=)
c.5223G>A (p.Gly1741=)
c.5970G>A (p.Gly1990=)
dbSNP gnomAD v4
16g.3729074delCA2631403393CREBBPc.5976del (p.Ser1993AlafsTer6)
c.5862del (p.Ser1955AlafsTer6)
c.5931del (p.Ser1978AlafsTer6)
c.5559del (p.Ser1854AlafsTer6)
c.5715del (p.Ser1906AlafsTer6)
c.5922del (p.Ser1975AlafsTer6)
c.5223del (p.Ser1742AlafsTer6)
c.5970del (p.Ser1991AlafsTer6)
dbSNP gnomAD v4
16g.3729072C>ACA394554765CREBBPc.5975G>T (p.Gly1992Val)
c.5861G>T (p.Gly1954Val)
c.5930G>T (p.Gly1977Val)
c.5558G>T (p.Gly1853Val)
c.5714G>T (p.Gly1905Val)
c.5921G>T (p.Gly1974Val)
c.5222G>T (p.Gly1741Val)
c.5969G>T (p.Gly1990Val)
16g.3729072C>GCA394554766CREBBPc.5975G>C (p.Gly1992Ala)
c.5861G>C (p.Gly1954Ala)
c.5930G>C (p.Gly1977Ala)
c.5558G>C (p.Gly1853Ala)
c.5714G>C (p.Gly1905Ala)
c.5921G>C (p.Gly1974Ala)
c.5222G>C (p.Gly1741Ala)
c.5969G>C (p.Gly1990Ala)
16g.3729072C>TCA394554768CREBBPc.5975G>A (p.Gly1992Glu)
c.5861G>A (p.Gly1954Glu)
c.5930G>A (p.Gly1977Glu)
c.5558G>A (p.Gly1853Glu)
c.5714G>A (p.Gly1905Glu)
c.5921G>A (p.Gly1974Glu)
c.5222G>A (p.Gly1741Glu)
c.5969G>A (p.Gly1990Glu)
16g.3729073C>ACA394554771CREBBPc.5974G>T (p.Gly1992Trp)
c.5860G>T (p.Gly1954Trp)
c.5929G>T (p.Gly1977Trp)
c.5557G>T (p.Gly1853Trp)
c.5713G>T (p.Gly1905Trp)
c.5920G>T (p.Gly1974Trp)
c.5221G>T (p.Gly1741Trp)
c.5968G>T (p.Gly1990Trp)
gnomAD v4
16g.3729073C=CA2202916201CREBBPc.5974G= (p.Gly1992=)
c.5860G= (p.Gly1954=)
c.5929G= (p.Gly1977=)
c.5557G= (p.Gly1853=)
c.5713G= (p.Gly1905=)
c.5920G= (p.Gly1974=)
c.5221G= (p.Gly1741=)
c.5968G= (p.Gly1990=)
16g.3729073C>GCA394554772CREBBPc.5974G>C (p.Gly1992Arg)
c.5860G>C (p.Gly1954Arg)
c.5929G>C (p.Gly1977Arg)
c.5557G>C (p.Gly1853Arg)
c.5713G>C (p.Gly1905Arg)
c.5920G>C (p.Gly1974Arg)
c.5221G>C (p.Gly1741Arg)
c.5968G>C (p.Gly1990Arg)
16g.3729073C>TCA394554774CREBBPc.5974G>A (p.Gly1992Arg)
c.5860G>A (p.Gly1954Arg)
c.5929G>A (p.Gly1977Arg)
c.5557G>A (p.Gly1853Arg)
c.5713G>A (p.Gly1905Arg)
c.5920G>A (p.Gly1974Arg)
c.5221G>A (p.Gly1741Arg)
c.5968G>A (p.Gly1990Arg)
dbSNP gnomAD v3 gnomAD v4
16g.3729074C>ACA493394246CREBBPc.5973G>T (p.Pro1991=)
c.5859G>T (p.Pro1953=)
c.5928G>T (p.Pro1976=)
c.5556G>T (p.Pro1852=)
c.5712G>T (p.Pro1904=)
c.5919G>T (p.Pro1973=)
c.5220G>T (p.Pro1740=)
c.5967G>T (p.Pro1989=)
gnomAD v4
16g.3729074C=CA2202916202CREBBPc.5973G= (p.Pro1991=)
c.5859G= (p.Pro1953=)
c.5928G= (p.Pro1976=)
c.5556G= (p.Pro1852=)
c.5712G= (p.Pro1904=)
c.5919G= (p.Pro1973=)
c.5220G= (p.Pro1740=)
c.5967G= (p.Pro1989=)
16g.3729074C>GCA493394247CREBBPc.5973G>C (p.Pro1991=)
c.5859G>C (p.Pro1953=)
c.5928G>C (p.Pro1976=)
c.5556G>C (p.Pro1852=)
c.5712G>C (p.Pro1904=)
c.5919G>C (p.Pro1973=)
c.5220G>C (p.Pro1740=)
c.5967G>C (p.Pro1989=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729074C>TCA7869206CREBBPc.5973G>A (p.Pro1991=)
c.5859G>A (p.Pro1953=)
c.5928G>A (p.Pro1976=)
c.5556G>A (p.Pro1852=)
c.5712G>A (p.Pro1904=)
c.5919G>A (p.Pro1973=)
c.5220G>A (p.Pro1740=)
c.5967G>A (p.Pro1989=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729075G>ACA7869208CREBBPc.5972C>T (p.Pro1991Leu)
c.5858C>T (p.Pro1953Leu)
c.5927C>T (p.Pro1976Leu)
c.5555C>T (p.Pro1852Leu)
c.5711C>T (p.Pro1904Leu)
c.5918C>T (p.Pro1973Leu)
c.5219C>T (p.Pro1740Leu)
c.5966C>T (p.Pro1989Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729075G>CCA394554779CREBBPc.5972C>G (p.Pro1991Arg)
c.5858C>G (p.Pro1953Arg)
c.5927C>G (p.Pro1976Arg)
c.5555C>G (p.Pro1852Arg)
c.5711C>G (p.Pro1904Arg)
c.5918C>G (p.Pro1973Arg)
c.5219C>G (p.Pro1740Arg)
c.5966C>G (p.Pro1989Arg)
dbSNP gnomAD v4
16g.3729075G=CA2202916203CREBBPc.5972C= (p.Pro1991=)
c.5858C= (p.Pro1953=)
c.5927C= (p.Pro1976=)
c.5555C= (p.Pro1852=)
c.5711C= (p.Pro1904=)
c.5918C= (p.Pro1973=)
c.5219C= (p.Pro1740=)
c.5966C= (p.Pro1989=)
16g.3729075G>TCA7869207CREBBPc.5972C>A (p.Pro1991Gln)
c.5858C>A (p.Pro1953Gln)
c.5927C>A (p.Pro1976Gln)
c.5555C>A (p.Pro1852Gln)
c.5711C>A (p.Pro1904Gln)
c.5918C>A (p.Pro1973Gln)
c.5219C>A (p.Pro1740Gln)
c.5966C>A (p.Pro1989Gln)
dbSNP ExAC gnomAD v4
16g.3729078delCA2631403404CREBBPc.5972del (p.Pro1991ArgfsTer8)
c.5858del (p.Pro1953ArgfsTer8)
c.5927del (p.Pro1976ArgfsTer8)
c.5555del (p.Pro1852ArgfsTer8)
c.5711del (p.Pro1904ArgfsTer8)
c.5918del (p.Pro1973ArgfsTer8)
c.5219del (p.Pro1740ArgfsTer8)
c.5966del (p.Pro1989ArgfsTer8)
gnomAD v4
16g.3729076G>ACA7869209CREBBPc.5971C>T (p.Pro1991Ser)
c.5857C>T (p.Pro1953Ser)
c.5926C>T (p.Pro1976Ser)
c.5554C>T (p.Pro1852Ser)
c.5710C>T (p.Pro1904Ser)
c.5917C>T (p.Pro1973Ser)
c.5218C>T (p.Pro1740Ser)
c.5965C>T (p.Pro1989Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729076G>CCA394554783CREBBPc.5971C>G (p.Pro1991Ala)
c.5857C>G (p.Pro1953Ala)
c.5926C>G (p.Pro1976Ala)
c.5554C>G (p.Pro1852Ala)
c.5710C>G (p.Pro1904Ala)
c.5917C>G (p.Pro1973Ala)
c.5218C>G (p.Pro1740Ala)
c.5965C>G (p.Pro1989Ala)
dbSNP
16g.3729076G=CA2202916204CREBBPc.5971C= (p.Pro1991=)
c.5857C= (p.Pro1953=)
c.5926C= (p.Pro1976=)
c.5554C= (p.Pro1852=)
c.5710C= (p.Pro1904=)
c.5917C= (p.Pro1973=)
c.5218C= (p.Pro1740=)
c.5965C= (p.Pro1989=)
16g.3729076G>TCA394554785CREBBPc.5971C>A (p.Pro1991Thr)
c.5857C>A (p.Pro1953Thr)
c.5926C>A (p.Pro1976Thr)
c.5554C>A (p.Pro1852Thr)
c.5710C>A (p.Pro1904Thr)
c.5917C>A (p.Pro1973Thr)
c.5218C>A (p.Pro1740Thr)
c.5965C>A (p.Pro1989Thr)
dbSNP gnomAD v4
16g.3729077G>ACA7869210CREBBPc.5970C>T (p.Thr1990=)
c.5856C>T (p.Thr1952=)
c.5925C>T (p.Thr1975=)
c.5553C>T (p.Thr1851=)
c.5709C>T (p.Thr1903=)
c.5916C>T (p.Thr1972=)
c.5217C>T (p.Thr1739=)
c.5964C>T (p.Thr1988=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729077G>CCA493394249CREBBPc.5970C>G (p.Thr1990=)
c.5856C>G (p.Thr1952=)
c.5925C>G (p.Thr1975=)
c.5553C>G (p.Thr1851=)
c.5709C>G (p.Thr1903=)
c.5916C>G (p.Thr1972=)
c.5217C>G (p.Thr1739=)
c.5964C>G (p.Thr1988=)
dbSNP
16g.3729077G=CA2202916205CREBBPc.5970C= (p.Thr1990=)
c.5856C= (p.Thr1952=)
c.5925C= (p.Thr1975=)
c.5553C= (p.Thr1851=)
c.5709C= (p.Thr1903=)
c.5916C= (p.Thr1972=)
c.5217C= (p.Thr1739=)
c.5964C= (p.Thr1988=)
16g.3729077G>TCA493394251CREBBPc.5970C>A (p.Thr1990=)
c.5856C>A (p.Thr1952=)
c.5925C>A (p.Thr1975=)
c.5553C>A (p.Thr1851=)
c.5709C>A (p.Thr1903=)
c.5916C>A (p.Thr1972=)
c.5217C>A (p.Thr1739=)
c.5964C>A (p.Thr1988=)
gnomAD v4
16g.3729078G>ACA394554788CREBBPc.5969C>T (p.Thr1990Ile)
c.5855C>T (p.Thr1952Ile)
c.5924C>T (p.Thr1975Ile)
c.5552C>T (p.Thr1851Ile)
c.5708C>T (p.Thr1903Ile)
c.5915C>T (p.Thr1972Ile)
c.5216C>T (p.Thr1739Ile)
c.5963C>T (p.Thr1988Ile)
dbSNP gnomAD v4
16g.3729078G>CCA394554790CREBBPc.5969C>G (p.Thr1990Ser)
c.5855C>G (p.Thr1952Ser)
c.5924C>G (p.Thr1975Ser)
c.5552C>G (p.Thr1851Ser)
c.5708C>G (p.Thr1903Ser)
c.5915C>G (p.Thr1972Ser)
c.5216C>G (p.Thr1739Ser)
c.5963C>G (p.Thr1988Ser)
dbSNP gnomAD v3 gnomAD v4
16g.3729078G=CA2202916206CREBBPc.5969C= (p.Thr1990=)
c.5855C= (p.Thr1952=)
c.5924C= (p.Thr1975=)
c.5552C= (p.Thr1851=)
c.5708C= (p.Thr1903=)
c.5915C= (p.Thr1972=)
c.5216C= (p.Thr1739=)
c.5963C= (p.Thr1988=)
16g.3729078G>TCA394554791CREBBPc.5969C>A (p.Thr1990Asn)
c.5855C>A (p.Thr1952Asn)
c.5924C>A (p.Thr1975Asn)
c.5552C>A (p.Thr1851Asn)
c.5708C>A (p.Thr1903Asn)
c.5915C>A (p.Thr1972Asn)
c.5216C>A (p.Thr1739Asn)
c.5963C>A (p.Thr1988Asn)
dbSNP gnomAD v4
16g.3729079T>ACA394554793CREBBPc.5968A>T (p.Thr1990Ser)
c.5854A>T (p.Thr1952Ser)
c.5923A>T (p.Thr1975Ser)
c.5551A>T (p.Thr1851Ser)
c.5707A>T (p.Thr1903Ser)
c.5914A>T (p.Thr1972Ser)
c.5215A>T (p.Thr1739Ser)
c.5962A>T (p.Thr1988Ser)
16g.3729079T>CCA394554794CREBBPc.5968A>G (p.Thr1990Ala)
c.5854A>G (p.Thr1952Ala)
c.5923A>G (p.Thr1975Ala)
c.5551A>G (p.Thr1851Ala)
c.5707A>G (p.Thr1903Ala)
c.5914A>G (p.Thr1972Ala)
c.5215A>G (p.Thr1739Ala)
c.5962A>G (p.Thr1988Ala)
16g.3729079T>GCA394554795CREBBPc.5968A>C (p.Thr1990Pro)
c.5854A>C (p.Thr1952Pro)
c.5923A>C (p.Thr1975Pro)
c.5551A>C (p.Thr1851Pro)
c.5707A>C (p.Thr1903Pro)
c.5914A>C (p.Thr1972Pro)
c.5215A>C (p.Thr1739Pro)
c.5962A>C (p.Thr1988Pro)
gnomAD v4
16g.3729079_3729080delinsTCCA2202916207CREBBPc.5967_5968delinsGA (p.Gly1989=)
c.5853_5854delinsGA (p.Gly1951=)
c.5922_5923delinsGA (p.Gly1974=)
c.5550_5551delinsGA (p.Gly1850=)
c.5706_5707delinsGA (p.Gly1902=)
c.5913_5914delinsGA (p.Gly1971=)
c.5214_5215delinsGA (p.Gly1738=)
c.5961_5962delinsGA (p.Gly1987=)
16g.3729080C>ACA493394255CREBBPc.5967G>T (p.Gly1989=)
c.5853G>T (p.Gly1951=)
c.5922G>T (p.Gly1974=)
c.5550G>T (p.Gly1850=)
c.5706G>T (p.Gly1902=)
c.5913G>T (p.Gly1971=)
c.5214G>T (p.Gly1738=)
c.5961G>T (p.Gly1987=)
dbSNP gnomAD v4
16g.3729080C=CA2202916208CREBBPc.5967G= (p.Gly1989=)
c.5853G= (p.Gly1951=)
c.5922G= (p.Gly1974=)
c.5550G= (p.Gly1850=)
c.5706G= (p.Gly1902=)
c.5913G= (p.Gly1971=)
c.5214G= (p.Gly1738=)
c.5961G= (p.Gly1987=)
16g.3729080C>GCA493394254CREBBPc.5967G>C (p.Gly1989=)
c.5853G>C (p.Gly1951=)
c.5922G>C (p.Gly1974=)
c.5550G>C (p.Gly1850=)
c.5706G>C (p.Gly1902=)
c.5913G>C (p.Gly1971=)
c.5214G>C (p.Gly1738=)
c.5961G>C (p.Gly1987=)
dbSNP
16g.3729080C>TCA7869211CREBBPc.5967G>A (p.Gly1989=)
c.5853G>A (p.Gly1951=)
c.5922G>A (p.Gly1974=)
c.5550G>A (p.Gly1850=)
c.5706G>A (p.Gly1902=)
c.5913G>A (p.Gly1971=)
c.5214G>A (p.Gly1738=)
c.5961G>A (p.Gly1987=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729083delCA158192CREBBPc.5967del (p.Thr1990ProfsTer9)
c.5853del (p.Thr1952ProfsTer9)
c.5922del (p.Thr1975ProfsTer9)
c.5550del (p.Thr1851ProfsTer9)
c.5706del (p.Thr1903ProfsTer9)
c.5913del (p.Thr1972ProfsTer9)
c.5214del (p.Thr1739ProfsTer9)
c.5961del (p.Thr1988ProfsTer9)
ClinVar dbSNP gnomAD v4
16g.3729081C>ACA394554798CREBBPc.5966G>T (p.Gly1989Val)
c.5852G>T (p.Gly1951Val)
c.5921G>T (p.Gly1974Val)
c.5549G>T (p.Gly1850Val)
c.5705G>T (p.Gly1902Val)
c.5912G>T (p.Gly1971Val)
c.5213G>T (p.Gly1738Val)
c.5960G>T (p.Gly1987Val)
dbSNP
16g.3729081C=CA2202916209CREBBPc.5966G= (p.Gly1989=)
c.5852G= (p.Gly1951=)
c.5921G= (p.Gly1974=)
c.5549G= (p.Gly1850=)
c.5705G= (p.Gly1902=)
c.5912G= (p.Gly1971=)
c.5213G= (p.Gly1738=)
c.5960G= (p.Gly1987=)
16g.3729081C>GCA394554800CREBBPc.5966G>C (p.Gly1989Ala)
c.5852G>C (p.Gly1951Ala)
c.5921G>C (p.Gly1974Ala)
c.5549G>C (p.Gly1850Ala)
c.5705G>C (p.Gly1902Ala)
c.5912G>C (p.Gly1971Ala)
c.5213G>C (p.Gly1738Ala)
c.5960G>C (p.Gly1987Ala)
dbSNP
16g.3729081C>TCA7869212CREBBPc.5966G>A (p.Gly1989Glu)
c.5852G>A (p.Gly1951Glu)
c.5921G>A (p.Gly1974Glu)
c.5549G>A (p.Gly1850Glu)
c.5705G>A (p.Gly1902Glu)
c.5912G>A (p.Gly1971Glu)
c.5213G>A (p.Gly1738Glu)
c.5960G>A (p.Gly1987Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729082C>ACA394554802CREBBPc.5965G>T (p.Gly1989Trp)
c.5851G>T (p.Gly1951Trp)
c.5920G>T (p.Gly1974Trp)
c.5548G>T (p.Gly1850Trp)
c.5704G>T (p.Gly1902Trp)
c.5911G>T (p.Gly1971Trp)
c.5212G>T (p.Gly1738Trp)
c.5959G>T (p.Gly1987Trp)
dbSNP
16g.3729082C>GCA394554804CREBBPc.5965G>C (p.Gly1989Arg)
c.5851G>C (p.Gly1951Arg)
c.5920G>C (p.Gly1974Arg)
c.5548G>C (p.Gly1850Arg)
c.5704G>C (p.Gly1902Arg)
c.5911G>C (p.Gly1971Arg)
c.5212G>C (p.Gly1738Arg)
c.5959G>C (p.Gly1987Arg)
dbSNP
16g.3729082C>TCA394554806CREBBPc.5965G>A (p.Gly1989Arg)
c.5851G>A (p.Gly1951Arg)
c.5920G>A (p.Gly1974Arg)
c.5548G>A (p.Gly1850Arg)
c.5704G>A (p.Gly1902Arg)
c.5911G>A (p.Gly1971Arg)
c.5212G>A (p.Gly1738Arg)
c.5959G>A (p.Gly1987Arg)
dbSNP gnomAD v4
16g.3729083C>ACA394554808CREBBPc.5964G>T (p.Met1988Ile)
c.5850G>T (p.Met1950Ile)
c.5919G>T (p.Met1973Ile)
c.5547G>T (p.Met1849Ile)
c.5703G>T (p.Met1901Ile)
c.5910G>T (p.Met1970Ile)
c.5211G>T (p.Met1737Ile)
c.5958G>T (p.Met1986Ile)
dbSNP gnomAD v4
16g.3729083C>GCA394554810CREBBPc.5964G>C (p.Met1988Ile)
c.5850G>C (p.Met1950Ile)
c.5919G>C (p.Met1973Ile)
c.5547G>C (p.Met1849Ile)
c.5703G>C (p.Met1901Ile)
c.5910G>C (p.Met1970Ile)
c.5211G>C (p.Met1737Ile)
c.5958G>C (p.Met1986Ile)
16g.3729083C>TCA394554812CREBBPc.5964G>A (p.Met1988Ile)
c.5850G>A (p.Met1950Ile)
c.5919G>A (p.Met1973Ile)
c.5547G>A (p.Met1849Ile)
c.5703G>A (p.Met1901Ile)
c.5910G>A (p.Met1970Ile)
c.5211G>A (p.Met1737Ile)
c.5958G>A (p.Met1986Ile)
dbSNP gnomAD v4
16g.3729084A=CA2202916210CREBBPc.5963T= (p.Met1988=)
c.5849T= (p.Met1950=)
c.5918T= (p.Met1973=)
c.5546T= (p.Met1849=)
c.5702T= (p.Met1901=)
c.5909T= (p.Met1970=)
c.5210T= (p.Met1737=)
c.5957T= (p.Met1986=)
16g.3729084A>CCA394554813CREBBPc.5963T>G (p.Met1988Arg)
c.5849T>G (p.Met1950Arg)
c.5918T>G (p.Met1973Arg)
c.5546T>G (p.Met1849Arg)
c.5702T>G (p.Met1901Arg)
c.5909T>G (p.Met1970Arg)
c.5210T>G (p.Met1737Arg)
c.5957T>G (p.Met1986Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729084A>GCA394554815CREBBPc.5963T>C (p.Met1988Thr)
c.5849T>C (p.Met1950Thr)
c.5918T>C (p.Met1973Thr)
c.5546T>C (p.Met1849Thr)
c.5702T>C (p.Met1901Thr)
c.5909T>C (p.Met1970Thr)
c.5210T>C (p.Met1737Thr)
c.5957T>C (p.Met1986Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729084A>TCA394554817CREBBPc.5963T>A (p.Met1988Lys)
c.5849T>A (p.Met1950Lys)
c.5918T>A (p.Met1973Lys)
c.5546T>A (p.Met1849Lys)
c.5702T>A (p.Met1901Lys)
c.5909T>A (p.Met1970Lys)
c.5210T>A (p.Met1737Lys)
c.5957T>A (p.Met1986Lys)
dbSNP
16g.3729085T>ACA394554819CREBBPc.5962A>T (p.Met1988Leu)
c.5848A>T (p.Met1950Leu)
c.5917A>T (p.Met1973Leu)
c.5545A>T (p.Met1849Leu)
c.5701A>T (p.Met1901Leu)
c.5908A>T (p.Met1970Leu)
c.5209A>T (p.Met1737Leu)
c.5956A>T (p.Met1986Leu)
ClinVar dbSNP
16g.3729085T>CCA394554821CREBBPc.5962A>G (p.Met1988Val)
c.5848A>G (p.Met1950Val)
c.5917A>G (p.Met1973Val)
c.5545A>G (p.Met1849Val)
c.5701A>G (p.Met1901Val)
c.5908A>G (p.Met1970Val)
c.5209A>G (p.Met1737Val)
c.5956A>G (p.Met1986Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729085T>GCA394554823CREBBPc.5962A>C (p.Met1988Leu)
c.5848A>C (p.Met1950Leu)
c.5917A>C (p.Met1973Leu)
c.5545A>C (p.Met1849Leu)
c.5701A>C (p.Met1901Leu)
c.5908A>C (p.Met1970Leu)
c.5209A>C (p.Met1737Leu)
c.5956A>C (p.Met1986Leu)
dbSNP
16g.3729085T=CA2202916211CREBBPc.5962A= (p.Met1988=)
c.5848A= (p.Met1950=)
c.5917A= (p.Met1973=)
c.5545A= (p.Met1849=)
c.5701A= (p.Met1901=)
c.5908A= (p.Met1970=)
c.5209A= (p.Met1737=)
c.5956A= (p.Met1986=)
16g.3729086G>ACA493394260CREBBPc.5961C>T (p.Gly1987=)
c.5847C>T (p.Gly1949=)
c.5916C>T (p.Gly1972=)
c.5544C>T (p.Gly1848=)
c.5700C>T (p.Gly1900=)
c.5907C>T (p.Gly1969=)
c.5208C>T (p.Gly1736=)
c.5955C>T (p.Gly1985=)
dbSNP
16g.3729086G>CCA493394263CREBBPc.5961C>G (p.Gly1987=)
c.5847C>G (p.Gly1949=)
c.5916C>G (p.Gly1972=)
c.5544C>G (p.Gly1848=)
c.5700C>G (p.Gly1900=)
c.5907C>G (p.Gly1969=)
c.5208C>G (p.Gly1736=)
c.5955C>G (p.Gly1985=)
dbSNP
16g.3729086G>TCA493394261CREBBPc.5961C>A (p.Gly1987=)
c.5847C>A (p.Gly1949=)
c.5916C>A (p.Gly1972=)
c.5544C>A (p.Gly1848=)
c.5700C>A (p.Gly1900=)
c.5907C>A (p.Gly1969=)
c.5208C>A (p.Gly1736=)
c.5955C>A (p.Gly1985=)
gnomAD v4
16g.3729087C>ACA394554828CREBBPc.5960G>T (p.Gly1987Val)
c.5846G>T (p.Gly1949Val)
c.5915G>T (p.Gly1972Val)
c.5543G>T (p.Gly1848Val)
c.5699G>T (p.Gly1900Val)
c.5906G>T (p.Gly1969Val)
c.5207G>T (p.Gly1736Val)
c.5954G>T (p.Gly1985Val)
dbSNP gnomAD v3 gnomAD v4
16g.3729087C=CA2202916212CREBBPc.5960G= (p.Gly1987=)
c.5846G= (p.Gly1949=)
c.5915G= (p.Gly1972=)
c.5543G= (p.Gly1848=)
c.5699G= (p.Gly1900=)
c.5906G= (p.Gly1969=)
c.5207G= (p.Gly1736=)
c.5954G= (p.Gly1985=)
16g.3729087C>GCA394554826CREBBPc.5960G>C (p.Gly1987Ala)
c.5846G>C (p.Gly1949Ala)
c.5915G>C (p.Gly1972Ala)
c.5543G>C (p.Gly1848Ala)
c.5699G>C (p.Gly1900Ala)
c.5906G>C (p.Gly1969Ala)
c.5207G>C (p.Gly1736Ala)
c.5954G>C (p.Gly1985Ala)
dbSNP
16g.3729087C>TCA394554824CREBBPc.5960G>A (p.Gly1987Asp)
c.5846G>A (p.Gly1949Asp)
c.5915G>A (p.Gly1972Asp)
c.5543G>A (p.Gly1848Asp)
c.5699G>A (p.Gly1900Asp)
c.5906G>A (p.Gly1969Asp)
c.5207G>A (p.Gly1736Asp)
c.5954G>A (p.Gly1985Asp)
dbSNP gnomAD v4
16g.3729088C>ACA394554830CREBBPc.5959G>T (p.Gly1987Cys)
c.5845G>T (p.Gly1949Cys)
c.5914G>T (p.Gly1972Cys)
c.5542G>T (p.Gly1848Cys)
c.5698G>T (p.Gly1900Cys)
c.5905G>T (p.Gly1969Cys)
c.5206G>T (p.Gly1736Cys)
c.5953G>T (p.Gly1985Cys)
dbSNP gnomAD v4
16g.3729088C>GCA394554831CREBBPc.5959G>C (p.Gly1987Arg)
c.5845G>C (p.Gly1949Arg)
c.5914G>C (p.Gly1972Arg)
c.5542G>C (p.Gly1848Arg)
c.5698G>C (p.Gly1900Arg)
c.5905G>C (p.Gly1969Arg)
c.5206G>C (p.Gly1736Arg)
c.5953G>C (p.Gly1985Arg)
dbSNP
16g.3729088C>TCA394554833CREBBPc.5959G>A (p.Gly1987Ser)
c.5845G>A (p.Gly1949Ser)
c.5914G>A (p.Gly1972Ser)
c.5542G>A (p.Gly1848Ser)
c.5698G>A (p.Gly1900Ser)
c.5905G>A (p.Gly1969Ser)
c.5206G>A (p.Gly1736Ser)
c.5953G>A (p.Gly1985Ser)
dbSNP gnomAD v4
16g.3729089C>ACA493394265CREBBPc.5958G>T (p.Thr1986=)
c.5844G>T (p.Thr1948=)
c.5913G>T (p.Thr1971=)
c.5541G>T (p.Thr1847=)
c.5697G>T (p.Thr1899=)
c.5904G>T (p.Thr1968=)
c.5205G>T (p.Thr1735=)
c.5952G>T (p.Thr1984=)
gnomAD v4
16g.3729089C=CA2202916213CREBBPc.5958G= (p.Thr1986=)
c.5844G= (p.Thr1948=)
c.5913G= (p.Thr1971=)
c.5541G= (p.Thr1847=)
c.5697G= (p.Thr1899=)
c.5904G= (p.Thr1968=)
c.5205G= (p.Thr1735=)
c.5952G= (p.Thr1984=)
16g.3729089C>GCA493394266CREBBPc.5958G>C (p.Thr1986=)
c.5844G>C (p.Thr1948=)
c.5913G>C (p.Thr1971=)
c.5541G>C (p.Thr1847=)
c.5697G>C (p.Thr1899=)
c.5904G>C (p.Thr1968=)
c.5205G>C (p.Thr1735=)
c.5952G>C (p.Thr1984=)
16g.3729089C>TCA7869213CREBBPc.5958G>A (p.Thr1986=)
c.5844G>A (p.Thr1948=)
c.5913G>A (p.Thr1971=)
c.5541G>A (p.Thr1847=)
c.5697G>A (p.Thr1899=)
c.5904G>A (p.Thr1968=)
c.5205G>A (p.Thr1735=)
c.5952G>A (p.Thr1984=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729090G>ACA7869214CREBBPc.5957C>T (p.Thr1986Met)
c.5843C>T (p.Thr1948Met)
c.5912C>T (p.Thr1971Met)
c.5540C>T (p.Thr1847Met)
c.5696C>T (p.Thr1899Met)
c.5903C>T (p.Thr1968Met)
c.5204C>T (p.Thr1735Met)
c.5951C>T (p.Thr1984Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729090G>CCA394554836CREBBPc.5957C>G (p.Thr1986Arg)
c.5843C>G (p.Thr1948Arg)
c.5912C>G (p.Thr1971Arg)
c.5540C>G (p.Thr1847Arg)
c.5696C>G (p.Thr1899Arg)
c.5903C>G (p.Thr1968Arg)
c.5204C>G (p.Thr1735Arg)
c.5951C>G (p.Thr1984Arg)
dbSNP gnomAD v2 gnomAD v4
16g.3729090G=CA2202916214CREBBPc.5957C= (p.Thr1986=)
c.5843C= (p.Thr1948=)
c.5912C= (p.Thr1971=)
c.5540C= (p.Thr1847=)
c.5696C= (p.Thr1899=)
c.5903C= (p.Thr1968=)
c.5204C= (p.Thr1735=)
c.5951C= (p.Thr1984=)
16g.3729090G>TCA394554837CREBBPc.5957C>A (p.Thr1986Lys)
c.5843C>A (p.Thr1948Lys)
c.5912C>A (p.Thr1971Lys)
c.5540C>A (p.Thr1847Lys)
c.5696C>A (p.Thr1899Lys)
c.5903C>A (p.Thr1968Lys)
c.5204C>A (p.Thr1735Lys)
c.5951C>A (p.Thr1984Lys)
gnomAD v4
16g.3729091T>ACA394554839CREBBPc.5956A>T (p.Thr1986Ser)
c.5842A>T (p.Thr1948Ser)
c.5911A>T (p.Thr1971Ser)
c.5539A>T (p.Thr1847Ser)
c.5695A>T (p.Thr1899Ser)
c.5902A>T (p.Thr1968Ser)
c.5203A>T (p.Thr1735Ser)
c.5950A>T (p.Thr1984Ser)
dbSNP
16g.3729091T>CCA394554840CREBBPc.5956A>G (p.Thr1986Ala)
c.5842A>G (p.Thr1948Ala)
c.5911A>G (p.Thr1971Ala)
c.5539A>G (p.Thr1847Ala)
c.5695A>G (p.Thr1899Ala)
c.5902A>G (p.Thr1968Ala)
c.5203A>G (p.Thr1735Ala)
c.5950A>G (p.Thr1984Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729091T>GCA394554841CREBBPc.5956A>C (p.Thr1986Pro)
c.5842A>C (p.Thr1948Pro)
c.5911A>C (p.Thr1971Pro)
c.5539A>C (p.Thr1847Pro)
c.5695A>C (p.Thr1899Pro)
c.5902A>C (p.Thr1968Pro)
c.5203A>C (p.Thr1735Pro)
c.5950A>C (p.Thr1984Pro)
dbSNP
16g.3729091T=CA2202916215CREBBPc.5956A= (p.Thr1986=)
c.5842A= (p.Thr1948=)
c.5911A= (p.Thr1971=)
c.5539A= (p.Thr1847=)
c.5695A= (p.Thr1899=)
c.5902A= (p.Thr1968=)
c.5203A= (p.Thr1735=)
c.5950A= (p.Thr1984=)
16g.3729092G>ACA493394268CREBBPc.5955C>T (p.Arg1985=)
c.5841C>T (p.Arg1947=)
c.5910C>T (p.Arg1970=)
c.5538C>T (p.Arg1846=)
c.5694C>T (p.Arg1898=)
c.5901C>T (p.Arg1967=)
c.5202C>T (p.Arg1734=)
c.5949C>T (p.Arg1983=)
16g.3729092G>CCA493394270CREBBPc.5955C>G (p.Arg1985=)
c.5841C>G (p.Arg1947=)
c.5910C>G (p.Arg1970=)
c.5538C>G (p.Arg1846=)
c.5694C>G (p.Arg1898=)
c.5901C>G (p.Arg1967=)
c.5202C>G (p.Arg1734=)
c.5949C>G (p.Arg1983=)
16g.3729092G>TCA493394273CREBBPc.5955C>A (p.Arg1985=)
c.5841C>A (p.Arg1947=)
c.5910C>A (p.Arg1970=)
c.5538C>A (p.Arg1846=)
c.5694C>A (p.Arg1898=)
c.5901C>A (p.Arg1967=)
c.5202C>A (p.Arg1734=)
c.5949C>A (p.Arg1983=)
gnomAD v4
16g.3729093C>ACA394554844CREBBPc.5954G>T (p.Arg1985Leu)
c.5840G>T (p.Arg1947Leu)
c.5909G>T (p.Arg1970Leu)
c.5537G>T (p.Arg1846Leu)
c.5693G>T (p.Arg1898Leu)
c.5900G>T (p.Arg1967Leu)
c.5201G>T (p.Arg1734Leu)
c.5948G>T (p.Arg1983Leu)
dbSNP gnomAD v4
16g.3729093C=CA2202916216CREBBPc.5954G= (p.Arg1985=)
c.5840G= (p.Arg1947=)
c.5909G= (p.Arg1970=)
c.5537G= (p.Arg1846=)
c.5693G= (p.Arg1898=)
c.5900G= (p.Arg1967=)
c.5201G= (p.Arg1734=)
c.5948G= (p.Arg1983=)
16g.3729093C>GCA394554845CREBBPc.5954G>C (p.Arg1985Pro)
c.5840G>C (p.Arg1947Pro)
c.5909G>C (p.Arg1970Pro)
c.5537G>C (p.Arg1846Pro)
c.5693G>C (p.Arg1898Pro)
c.5900G>C (p.Arg1967Pro)
c.5201G>C (p.Arg1734Pro)
c.5948G>C (p.Arg1983Pro)
16g.3729093C>TCA394554847CREBBPc.5954G>A (p.Arg1985His)
c.5840G>A (p.Arg1947His)
c.5909G>A (p.Arg1970His)
c.5537G>A (p.Arg1846His)
c.5693G>A (p.Arg1898His)
c.5900G>A (p.Arg1967His)
c.5201G>A (p.Arg1734His)
c.5948G>A (p.Arg1983His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729094G>ACA7869215CREBBPc.5953C>T (p.Arg1985Cys)
c.5839C>T (p.Arg1947Cys)
c.5908C>T (p.Arg1970Cys)
c.5536C>T (p.Arg1846Cys)
c.5692C>T (p.Arg1898Cys)
c.5899C>T (p.Arg1967Cys)
c.5200C>T (p.Arg1734Cys)
c.5947C>T (p.Arg1983Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729094G>CCA394554851CREBBPc.5953C>G (p.Arg1985Gly)
c.5839C>G (p.Arg1947Gly)
c.5908C>G (p.Arg1970Gly)
c.5536C>G (p.Arg1846Gly)
c.5692C>G (p.Arg1898Gly)
c.5899C>G (p.Arg1967Gly)
c.5200C>G (p.Arg1734Gly)
c.5947C>G (p.Arg1983Gly)
dbSNP
16g.3729094G=CA2202916217CREBBPc.5953C= (p.Arg1985=)
c.5839C= (p.Arg1947=)
c.5908C= (p.Arg1970=)
c.5536C= (p.Arg1846=)
c.5692C= (p.Arg1898=)
c.5899C= (p.Arg1967=)
c.5200C= (p.Arg1734=)
c.5947C= (p.Arg1983=)
16g.3729094G>TCA394554848CREBBPc.5953C>A (p.Arg1985Ser)
c.5839C>A (p.Arg1947Ser)
c.5908C>A (p.Arg1970Ser)
c.5536C>A (p.Arg1846Ser)
c.5692C>A (p.Arg1898Ser)
c.5899C>A (p.Arg1967Ser)
c.5200C>A (p.Arg1734Ser)
c.5947C>A (p.Arg1983Ser)
gnomAD v4
16g.3729095T>ACA493394276CREBBPc.5952A>T (p.Gly1984=)
c.5838A>T (p.Gly1946=)
c.5907A>T (p.Gly1969=)
c.5535A>T (p.Gly1845=)
c.5691A>T (p.Gly1897=)
c.5898A>T (p.Gly1966=)
c.5199A>T (p.Gly1733=)
c.5946A>T (p.Gly1982=)
dbSNP gnomAD v4
16g.3729095T>CCA493394277CREBBPc.5952A>G (p.Gly1984=)
c.5838A>G (p.Gly1946=)
c.5907A>G (p.Gly1969=)
c.5535A>G (p.Gly1845=)
c.5691A>G (p.Gly1897=)
c.5898A>G (p.Gly1966=)
c.5199A>G (p.Gly1733=)
c.5946A>G (p.Gly1982=)
dbSNP gnomAD v2 gnomAD v4
16g.3729095T>GCA493394280CREBBPc.5952A>C (p.Gly1984=)
c.5838A>C (p.Gly1946=)
c.5907A>C (p.Gly1969=)
c.5535A>C (p.Gly1845=)
c.5691A>C (p.Gly1897=)
c.5898A>C (p.Gly1966=)
c.5199A>C (p.Gly1733=)
c.5946A>C (p.Gly1982=)
dbSNP
16g.3729095T=CA2202916218CREBBPc.5952A= (p.Gly1984=)
c.5838A= (p.Gly1946=)
c.5907A= (p.Gly1969=)
c.5535A= (p.Gly1845=)
c.5691A= (p.Gly1897=)
c.5898A= (p.Gly1966=)
c.5199A= (p.Gly1733=)
c.5946A= (p.Gly1982=)
16g.3729096C>ACA394554852CREBBPc.5951G>T (p.Gly1984Val)
c.5837G>T (p.Gly1946Val)
c.5906G>T (p.Gly1969Val)
c.5534G>T (p.Gly1845Val)
c.5690G>T (p.Gly1897Val)
c.5897G>T (p.Gly1966Val)
c.5198G>T (p.Gly1733Val)
c.5945G>T (p.Gly1982Val)
gnomAD v4
16g.3729096C>GCA394554854CREBBPc.5951G>C (p.Gly1984Ala)
c.5837G>C (p.Gly1946Ala)
c.5906G>C (p.Gly1969Ala)
c.5534G>C (p.Gly1845Ala)
c.5690G>C (p.Gly1897Ala)
c.5897G>C (p.Gly1966Ala)
c.5198G>C (p.Gly1733Ala)
c.5945G>C (p.Gly1982Ala)
dbSNP
16g.3729096C>TCA394554856CREBBPc.5951G>A (p.Gly1984Glu)
c.5837G>A (p.Gly1946Glu)
c.5906G>A (p.Gly1969Glu)
c.5534G>A (p.Gly1845Glu)
c.5690G>A (p.Gly1897Glu)
c.5897G>A (p.Gly1966Glu)
c.5198G>A (p.Gly1733Glu)
c.5945G>A (p.Gly1982Glu)
dbSNP
16g.3729097C>ACA394554858CREBBPc.5950G>T (p.Gly1984Ter)
c.5836G>T (p.Gly1946Ter)
c.5905G>T (p.Gly1969Ter)
c.5533G>T (p.Gly1845Ter)
c.5689G>T (p.Gly1897Ter)
c.5896G>T (p.Gly1966Ter)
c.5197G>T (p.Gly1733Ter)
c.5944G>T (p.Gly1982Ter)
dbSNP gnomAD v4
16g.3729097C>GCA394554860CREBBPc.5950G>C (p.Gly1984Arg)
c.5836G>C (p.Gly1946Arg)
c.5905G>C (p.Gly1969Arg)
c.5533G>C (p.Gly1845Arg)
c.5689G>C (p.Gly1897Arg)
c.5896G>C (p.Gly1966Arg)
c.5197G>C (p.Gly1733Arg)
c.5944G>C (p.Gly1982Arg)
dbSNP
16g.3729097C>TCA394554862CREBBPc.5950G>A (p.Gly1984Arg)
c.5836G>A (p.Gly1946Arg)
c.5905G>A (p.Gly1969Arg)
c.5533G>A (p.Gly1845Arg)
c.5689G>A (p.Gly1897Arg)
c.5896G>A (p.Gly1966Arg)
c.5197G>A (p.Gly1733Arg)
c.5944G>A (p.Gly1982Arg)
dbSNP gnomAD v4
16g.3729098T>ACA493394281CREBBPc.5949A>T (p.Pro1983=)
c.5835A>T (p.Pro1945=)
c.5904A>T (p.Pro1968=)
c.5532A>T (p.Pro1844=)
c.5688A>T (p.Pro1896=)
c.5895A>T (p.Pro1965=)
c.5196A>T (p.Pro1732=)
c.5943A>T (p.Pro1981=)
gnomAD v4
16g.3729098T>CCA7869216CREBBPc.5949A>G (p.Pro1983=)
c.5835A>G (p.Pro1945=)
c.5904A>G (p.Pro1968=)
c.5532A>G (p.Pro1844=)
c.5688A>G (p.Pro1896=)
c.5895A>G (p.Pro1965=)
c.5196A>G (p.Pro1732=)
c.5943A>G (p.Pro1981=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729098T>GCA493394282CREBBPc.5949A>C (p.Pro1983=)
c.5835A>C (p.Pro1945=)
c.5904A>C (p.Pro1968=)
c.5532A>C (p.Pro1844=)
c.5688A>C (p.Pro1896=)
c.5895A>C (p.Pro1965=)
c.5196A>C (p.Pro1732=)
c.5943A>C (p.Pro1981=)
16g.3729098T=CA2202916219CREBBPc.5949A= (p.Pro1983=)
c.5835A= (p.Pro1945=)
c.5904A= (p.Pro1968=)
c.5532A= (p.Pro1844=)
c.5688A= (p.Pro1896=)
c.5895A= (p.Pro1965=)
c.5196A= (p.Pro1732=)
c.5943A= (p.Pro1981=)
16g.3729099G>ACA394554864CREBBPc.5948C>T (p.Pro1983Leu)
c.5834C>T (p.Pro1945Leu)
c.5903C>T (p.Pro1968Leu)
c.5531C>T (p.Pro1844Leu)
c.5687C>T (p.Pro1896Leu)
c.5894C>T (p.Pro1965Leu)
c.5195C>T (p.Pro1732Leu)
c.5942C>T (p.Pro1981Leu)
dbSNP gnomAD v4
16g.3729099G>CCA394554866CREBBPc.5948C>G (p.Pro1983Arg)
c.5834C>G (p.Pro1945Arg)
c.5903C>G (p.Pro1968Arg)
c.5531C>G (p.Pro1844Arg)
c.5687C>G (p.Pro1896Arg)
c.5894C>G (p.Pro1965Arg)
c.5195C>G (p.Pro1732Arg)
c.5942C>G (p.Pro1981Arg)
16g.3729099G=CA2202916220CREBBPc.5948C= (p.Pro1983=)
c.5834C= (p.Pro1945=)
c.5903C= (p.Pro1968=)
c.5531C= (p.Pro1844=)
c.5687C= (p.Pro1896=)
c.5894C= (p.Pro1965=)
c.5195C= (p.Pro1732=)
c.5942C= (p.Pro1981=)
16g.3729099G>TCA394554868CREBBPc.5948C>A (p.Pro1983Gln)
c.5834C>A (p.Pro1945Gln)
c.5903C>A (p.Pro1968Gln)
c.5531C>A (p.Pro1844Gln)
c.5687C>A (p.Pro1896Gln)
c.5894C>A (p.Pro1965Gln)
c.5195C>A (p.Pro1732Gln)
c.5942C>A (p.Pro1981Gln)
dbSNP gnomAD v2 gnomAD v4
16g.3729103delCA2631403461CREBBPc.5948del (p.Pro1983GlnfsTer16)
c.5834del (p.Pro1945GlnfsTer16)
c.5903del (p.Pro1968GlnfsTer16)
c.5531del (p.Pro1844GlnfsTer16)
c.5687del (p.Pro1896GlnfsTer16)
c.5894del (p.Pro1965GlnfsTer16)
c.5195del (p.Pro1732GlnfsTer16)
c.5942del (p.Pro1981GlnfsTer16)
gnomAD v4
16g.3729100G>ACA394554874CREBBPc.5947C>T (p.Pro1983Ser)
c.5833C>T (p.Pro1945Ser)
c.5902C>T (p.Pro1968Ser)
c.5530C>T (p.Pro1844Ser)
c.5686C>T (p.Pro1896Ser)
c.5893C>T (p.Pro1965Ser)
c.5194C>T (p.Pro1732Ser)
c.5941C>T (p.Pro1981Ser)
dbSNP gnomAD v2
16g.3729100G>CCA394554872CREBBPc.5947C>G (p.Pro1983Ala)
c.5833C>G (p.Pro1945Ala)
c.5902C>G (p.Pro1968Ala)
c.5530C>G (p.Pro1844Ala)
c.5686C>G (p.Pro1896Ala)
c.5893C>G (p.Pro1965Ala)
c.5194C>G (p.Pro1732Ala)
c.5941C>G (p.Pro1981Ala)
dbSNP gnomAD v4
16g.3729100G=CA2202916221CREBBPc.5947C= (p.Pro1983=)
c.5833C= (p.Pro1945=)
c.5902C= (p.Pro1968=)
c.5530C= (p.Pro1844=)
c.5686C= (p.Pro1896=)
c.5893C= (p.Pro1965=)
c.5194C= (p.Pro1732=)
c.5941C= (p.Pro1981=)
16g.3729100G>TCA394554870CREBBPc.5947C>A (p.Pro1983Thr)
c.5833C>A (p.Pro1945Thr)
c.5902C>A (p.Pro1968Thr)
c.5530C>A (p.Pro1844Thr)
c.5686C>A (p.Pro1896Thr)
c.5893C>A (p.Pro1965Thr)
c.5194C>A (p.Pro1732Thr)
c.5941C>A (p.Pro1981Thr)
gnomAD v4
16g.3729101G>ACA493394287CREBBPc.5946C>T (p.Pro1982=)
c.5832C>T (p.Pro1944=)
c.5901C>T (p.Pro1967=)
c.5529C>T (p.Pro1843=)
c.5685C>T (p.Pro1895=)
c.5892C>T (p.Pro1964=)
c.5193C>T (p.Pro1731=)
c.5940C>T (p.Pro1980=)
dbSNP gnomAD v2
16g.3729101G>CCA493394290CREBBPc.5946C>G (p.Pro1982=)
c.5832C>G (p.Pro1944=)
c.5901C>G (p.Pro1967=)
c.5529C>G (p.Pro1843=)
c.5685C>G (p.Pro1895=)
c.5892C>G (p.Pro1964=)
c.5193C>G (p.Pro1731=)
c.5940C>G (p.Pro1980=)
dbSNP
16g.3729101G=CA2202916222CREBBPc.5946C= (p.Pro1982=)
c.5832C= (p.Pro1944=)
c.5901C= (p.Pro1967=)
c.5529C= (p.Pro1843=)
c.5685C= (p.Pro1895=)
c.5892C= (p.Pro1964=)
c.5193C= (p.Pro1731=)
c.5940C= (p.Pro1980=)
16g.3729101G>TCA493394288CREBBPc.5946C>A (p.Pro1982=)
c.5832C>A (p.Pro1944=)
c.5901C>A (p.Pro1967=)
c.5529C>A (p.Pro1843=)
c.5685C>A (p.Pro1895=)
c.5892C>A (p.Pro1964=)
c.5193C>A (p.Pro1731=)
c.5940C>A (p.Pro1980=)
gnomAD v4
16g.3729102G>ACA394554875CREBBPc.5945C>T (p.Pro1982Leu)
c.5831C>T (p.Pro1944Leu)
c.5900C>T (p.Pro1967Leu)
c.5528C>T (p.Pro1843Leu)
c.5684C>T (p.Pro1895Leu)
c.5891C>T (p.Pro1964Leu)
c.5192C>T (p.Pro1731Leu)
c.5939C>T (p.Pro1980Leu)
dbSNP gnomAD v4
16g.3729102G>CCA394554877CREBBPc.5945C>G (p.Pro1982Arg)
c.5831C>G (p.Pro1944Arg)
c.5900C>G (p.Pro1967Arg)
c.5528C>G (p.Pro1843Arg)
c.5684C>G (p.Pro1895Arg)
c.5891C>G (p.Pro1964Arg)
c.5192C>G (p.Pro1731Arg)
c.5939C>G (p.Pro1980Arg)
gnomAD v4
16g.3729102G>TCA394554878CREBBPc.5945C>A (p.Pro1982His)
c.5831C>A (p.Pro1944His)
c.5900C>A (p.Pro1967His)
c.5528C>A (p.Pro1843His)
c.5684C>A (p.Pro1895His)
c.5891C>A (p.Pro1964His)
c.5192C>A (p.Pro1731His)
c.5939C>A (p.Pro1980His)
dbSNP gnomAD v4
16g.3729103G>ACA7869217CREBBPc.5944C>T (p.Pro1982Ser)
c.5830C>T (p.Pro1944Ser)
c.5899C>T (p.Pro1967Ser)
c.5527C>T (p.Pro1843Ser)
c.5683C>T (p.Pro1895Ser)
c.5890C>T (p.Pro1964Ser)
c.5191C>T (p.Pro1731Ser)
c.5938C>T (p.Pro1980Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729103G>CCA394554880CREBBPc.5944C>G (p.Pro1982Ala)
c.5830C>G (p.Pro1944Ala)
c.5899C>G (p.Pro1967Ala)
c.5527C>G (p.Pro1843Ala)
c.5683C>G (p.Pro1895Ala)
c.5890C>G (p.Pro1964Ala)
c.5191C>G (p.Pro1731Ala)
c.5938C>G (p.Pro1980Ala)
dbSNP
16g.3729103G=CA2202916223CREBBPc.5944C= (p.Pro1982=)
c.5830C= (p.Pro1944=)
c.5899C= (p.Pro1967=)
c.5527C= (p.Pro1843=)
c.5683C= (p.Pro1895=)
c.5890C= (p.Pro1964=)
c.5191C= (p.Pro1731=)
c.5938C= (p.Pro1980=)
16g.3729103G>TCA394554881CREBBPc.5944C>A (p.Pro1982Thr)
c.5830C>A (p.Pro1944Thr)
c.5899C>A (p.Pro1967Thr)
c.5527C>A (p.Pro1843Thr)
c.5683C>A (p.Pro1895Thr)
c.5890C>A (p.Pro1964Thr)
c.5191C>A (p.Pro1731Thr)
c.5938C>A (p.Pro1980Thr)
ClinVar dbSNP gnomAD v4
16g.3729104C>ACA394554883CREBBPc.5943G>T (p.Met1981Ile)
c.5829G>T (p.Met1943Ile)
c.5898G>T (p.Met1966Ile)
c.5526G>T (p.Met1842Ile)
c.5682G>T (p.Met1894Ile)
c.5889G>T (p.Met1963Ile)
c.5190G>T (p.Met1730Ile)
c.5937G>T (p.Met1979Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729104C=CA2202916224CREBBPc.5943G= (p.Met1981=)
c.5829G= (p.Met1943=)
c.5898G= (p.Met1966=)
c.5526G= (p.Met1842=)
c.5682G= (p.Met1894=)
c.5889G= (p.Met1963=)
c.5190G= (p.Met1730=)
c.5937G= (p.Met1979=)
16g.3729104C>GCA394554885CREBBPc.5943G>C (p.Met1981Ile)
c.5829G>C (p.Met1943Ile)
c.5898G>C (p.Met1966Ile)
c.5526G>C (p.Met1842Ile)
c.5682G>C (p.Met1894Ile)
c.5889G>C (p.Met1963Ile)
c.5190G>C (p.Met1730Ile)
c.5937G>C (p.Met1979Ile)
dbSNP
16g.3729104C>TCA394554887CREBBPc.5943G>A (p.Met1981Ile)
c.5829G>A (p.Met1943Ile)
c.5898G>A (p.Met1966Ile)
c.5526G>A (p.Met1842Ile)
c.5682G>A (p.Met1894Ile)
c.5889G>A (p.Met1963Ile)
c.5190G>A (p.Met1730Ile)
c.5937G>A (p.Met1979Ile)
dbSNP gnomAD v4
16g.3729105A>CCA394554889CREBBPc.5942T>G (p.Met1981Arg)
c.5828T>G (p.Met1943Arg)
c.5897T>G (p.Met1966Arg)
c.5525T>G (p.Met1842Arg)
c.5681T>G (p.Met1894Arg)
c.5888T>G (p.Met1963Arg)
c.5189T>G (p.Met1730Arg)
c.5936T>G (p.Met1979Arg)
dbSNP
16g.3729105A>GCA394554891CREBBPc.5942T>C (p.Met1981Thr)
c.5828T>C (p.Met1943Thr)
c.5897T>C (p.Met1966Thr)
c.5525T>C (p.Met1842Thr)
c.5681T>C (p.Met1894Thr)
c.5888T>C (p.Met1963Thr)
c.5189T>C (p.Met1730Thr)
c.5936T>C (p.Met1979Thr)
dbSNP gnomAD v4
16g.3729105A>TCA394554893CREBBPc.5942T>A (p.Met1981Lys)
c.5828T>A (p.Met1943Lys)
c.5897T>A (p.Met1966Lys)
c.5525T>A (p.Met1842Lys)
c.5681T>A (p.Met1894Lys)
c.5888T>A (p.Met1963Lys)
c.5189T>A (p.Met1730Lys)
c.5936T>A (p.Met1979Lys)
dbSNP
16g.3729106T>ACA394554896CREBBPc.5941A>T (p.Met1981Leu)
c.5827A>T (p.Met1943Leu)
c.5896A>T (p.Met1966Leu)
c.5524A>T (p.Met1842Leu)
c.5680A>T (p.Met1894Leu)
c.5887A>T (p.Met1963Leu)
c.5188A>T (p.Met1730Leu)
c.5935A>T (p.Met1979Leu)
gnomAD v4
16g.3729106T>CCA394554897CREBBPc.5941A>G (p.Met1981Val)
c.5827A>G (p.Met1943Val)
c.5896A>G (p.Met1966Val)
c.5524A>G (p.Met1842Val)
c.5680A>G (p.Met1894Val)
c.5887A>G (p.Met1963Val)
c.5188A>G (p.Met1730Val)
c.5935A>G (p.Met1979Val)
dbSNP gnomAD v4
16g.3729106T>GCA394554895CREBBPc.5941A>C (p.Met1981Leu)
c.5827A>C (p.Met1943Leu)
c.5896A>C (p.Met1966Leu)
c.5524A>C (p.Met1842Leu)
c.5680A>C (p.Met1894Leu)
c.5887A>C (p.Met1963Leu)
c.5188A>C (p.Met1730Leu)
c.5935A>C (p.Met1979Leu)
16g.3729107G>ACA276971855CREBBPc.5940C>T (p.Ser1980=)
c.5826C>T (p.Ser1942=)
c.5895C>T (p.Ser1965=)
c.5523C>T (p.Ser1841=)
c.5679C>T (p.Ser1893=)
c.5886C>T (p.Ser1962=)
c.5187C>T (p.Ser1729=)
c.5934C>T (p.Ser1978=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729107G>CCA394554901CREBBPc.5940C>G (p.Ser1980Arg)
c.5826C>G (p.Ser1942Arg)
c.5895C>G (p.Ser1965Arg)
c.5523C>G (p.Ser1841Arg)
c.5679C>G (p.Ser1893Arg)
c.5886C>G (p.Ser1962Arg)
c.5187C>G (p.Ser1729Arg)
c.5934C>G (p.Ser1978Arg)
dbSNP gnomAD v4
16g.3729107G=CA2202916225CREBBPc.5940C= (p.Ser1980=)
c.5826C= (p.Ser1942=)
c.5895C= (p.Ser1965=)
c.5523C= (p.Ser1841=)
c.5679C= (p.Ser1893=)
c.5886C= (p.Ser1962=)
c.5187C= (p.Ser1729=)
c.5934C= (p.Ser1978=)
16g.3729107G>TCA394554899CREBBPc.5940C>A (p.Ser1980Arg)
c.5826C>A (p.Ser1942Arg)
c.5895C>A (p.Ser1965Arg)
c.5523C>A (p.Ser1841Arg)
c.5679C>A (p.Ser1893Arg)
c.5886C>A (p.Ser1962Arg)
c.5187C>A (p.Ser1729Arg)
c.5934C>A (p.Ser1978Arg)
dbSNP gnomAD v4
16g.3729108C>ACA394554903CREBBPc.5939G>T (p.Ser1980Ile)
c.5825G>T (p.Ser1942Ile)
c.5894G>T (p.Ser1965Ile)
c.5522G>T (p.Ser1841Ile)
c.5678G>T (p.Ser1893Ile)
c.5885G>T (p.Ser1962Ile)
c.5186G>T (p.Ser1729Ile)
c.5933G>T (p.Ser1978Ile)
gnomAD v4
16g.3729108C=CA2202916226CREBBPc.5939G= (p.Ser1980=)
c.5825G= (p.Ser1942=)
c.5894G= (p.Ser1965=)
c.5522G= (p.Ser1841=)
c.5678G= (p.Ser1893=)
c.5885G= (p.Ser1962=)
c.5186G= (p.Ser1729=)
c.5933G= (p.Ser1978=)
16g.3729108C>GCA7869218CREBBPc.5939G>C (p.Ser1980Thr)
c.5825G>C (p.Ser1942Thr)
c.5894G>C (p.Ser1965Thr)
c.5522G>C (p.Ser1841Thr)
c.5678G>C (p.Ser1893Thr)
c.5885G>C (p.Ser1962Thr)
c.5186G>C (p.Ser1729Thr)
c.5933G>C (p.Ser1978Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729108C>TCA394554905CREBBPc.5939G>A (p.Ser1980Asn)
c.5825G>A (p.Ser1942Asn)
c.5894G>A (p.Ser1965Asn)
c.5522G>A (p.Ser1841Asn)
c.5678G>A (p.Ser1893Asn)
c.5885G>A (p.Ser1962Asn)
c.5186G>A (p.Ser1729Asn)
c.5933G>A (p.Ser1978Asn)
gnomAD v4
16g.3729108_3729111delinsCTGTCA2202916227CREBBPc.5936_5939delinsACAG (p.Asn1979=)
c.5822_5825delinsACAG (p.Asn1941=)
c.5891_5894delinsACAG (p.Asn1964=)
c.5519_5522delinsACAG (p.Asn1840=)
c.5675_5678delinsACAG (p.Asn1892=)
c.5882_5885delinsACAG (p.Asn1961=)
c.5183_5186delinsACAG (p.Asn1728=)
c.5930_5933delinsACAG (p.Asn1977=)
16g.3729109T>ACA394554908CREBBPc.5938A>T (p.Ser1980Cys)
c.5824A>T (p.Ser1942Cys)
c.5893A>T (p.Ser1965Cys)
c.5521A>T (p.Ser1841Cys)
c.5677A>T (p.Ser1893Cys)
c.5884A>T (p.Ser1962Cys)
c.5185A>T (p.Ser1729Cys)
c.5932A>T (p.Ser1978Cys)
dbSNP
16g.3729109T>CCA7869220CREBBPc.5938A>G (p.Ser1980Gly)
c.5824A>G (p.Ser1942Gly)
c.5893A>G (p.Ser1965Gly)
c.5521A>G (p.Ser1841Gly)
c.5677A>G (p.Ser1893Gly)
c.5884A>G (p.Ser1962Gly)
c.5185A>G (p.Ser1729Gly)
c.5932A>G (p.Ser1978Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729109T>GCA394554910CREBBPc.5938A>C (p.Ser1980Arg)
c.5824A>C (p.Ser1942Arg)
c.5893A>C (p.Ser1965Arg)
c.5521A>C (p.Ser1841Arg)
c.5677A>C (p.Ser1893Arg)
c.5884A>C (p.Ser1962Arg)
c.5185A>C (p.Ser1729Arg)
c.5932A>C (p.Ser1978Arg)
16g.3729109T=CA2202916229CREBBPc.5938A= (p.Ser1980=)
c.5824A= (p.Ser1942=)
c.5893A= (p.Ser1965=)
c.5521A= (p.Ser1841=)
c.5677A= (p.Ser1893=)
c.5884A= (p.Ser1962=)
c.5185A= (p.Ser1729=)
c.5932A= (p.Ser1978=)
16g.3729114_3729116dupCA2202916228CREBBPc.5936_5938dup (p.Asn1979_Ser1980insAsn)
c.5822_5824dup (p.Asn1941_Ser1942insAsn)
c.5891_5893dup (p.Asn1964_Ser1965insAsn)
c.5519_5521dup (p.Asn1840_Ser1841insAsn)
c.5675_5677dup (p.Asn1892_Ser1893insAsn)
c.5882_5884dup (p.Asn1961_Ser1962insAsn)
c.5183_5185dup (p.Asn1728_Ser1729insAsn)
c.5930_5932dup (p.Asn1977_Ser1978insAsn)
dbSNP
16g.3729114_3729116delCA7869219CREBBPc.5936_5938del (p.Asn1979del)
c.5822_5824del (p.Asn1941del)
c.5891_5893del (p.Asn1964del)
c.5519_5521del (p.Asn1840del)
c.5675_5677del (p.Asn1892del)
c.5882_5884del (p.Asn1961del)
c.5183_5185del (p.Asn1728del)
c.5930_5932del (p.Asn1977del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729110G>ACA493394304CREBBPc.5937C>T (p.Asn1979=)
c.5823C>T (p.Asn1941=)
c.5892C>T (p.Asn1964=)
c.5520C>T (p.Asn1840=)
c.5676C>T (p.Asn1892=)
c.5883C>T (p.Asn1961=)
c.5184C>T (p.Asn1728=)
c.5931C>T (p.Asn1977=)
dbSNP gnomAD v2 gnomAD v4
16g.3729110G>CCA394554912CREBBPc.5937C>G (p.Asn1979Lys)
c.5823C>G (p.Asn1941Lys)
c.5892C>G (p.Asn1964Lys)
c.5520C>G (p.Asn1840Lys)
c.5676C>G (p.Asn1892Lys)
c.5883C>G (p.Asn1961Lys)
c.5184C>G (p.Asn1728Lys)
c.5931C>G (p.Asn1977Lys)
dbSNP
16g.3729110G=CA2202916230CREBBPc.5937C= (p.Asn1979=)
c.5823C= (p.Asn1941=)
c.5892C= (p.Asn1964=)
c.5520C= (p.Asn1840=)
c.5676C= (p.Asn1892=)
c.5883C= (p.Asn1961=)
c.5184C= (p.Asn1728=)
c.5931C= (p.Asn1977=)
16g.3729110G>TCA394554914CREBBPc.5937C>A (p.Asn1979Lys)
c.5823C>A (p.Asn1941Lys)
c.5892C>A (p.Asn1964Lys)
c.5520C>A (p.Asn1840Lys)
c.5676C>A (p.Asn1892Lys)
c.5883C>A (p.Asn1961Lys)
c.5184C>A (p.Asn1728Lys)
c.5931C>A (p.Asn1977Lys)
gnomAD v4
16g.3729110_3729111insACA277105CREBBPc.5936_5937insT (p.Ser1980GlnfsTer?)
c.5822_5823insT (p.Ser1942GlnfsTer?)
c.5891_5892insT (p.Ser1965GlnfsTer?)
c.5519_5520insT (p.Ser1841GlnfsTer?)
c.5675_5676insT (p.Ser1893GlnfsTer?)
c.5882_5883insT (p.Ser1962GlnfsTer?)
c.5183_5184insT (p.Ser1729GlnfsTer?)
c.5930_5931insT (p.Ser1978GlnfsTer?)
ClinVar dbSNP
16g.3729111T>ACA394554921CREBBPc.5936A>T (p.Asn1979Ile)
c.5822A>T (p.Asn1941Ile)
c.5891A>T (p.Asn1964Ile)
c.5519A>T (p.Asn1840Ile)
c.5675A>T (p.Asn1892Ile)
c.5882A>T (p.Asn1961Ile)
c.5183A>T (p.Asn1728Ile)
c.5930A>T (p.Asn1977Ile)
dbSNP
16g.3729111T>CCA394554919CREBBPc.5936A>G (p.Asn1979Ser)
c.5822A>G (p.Asn1941Ser)
c.5891A>G (p.Asn1964Ser)
c.5519A>G (p.Asn1840Ser)
c.5675A>G (p.Asn1892Ser)
c.5882A>G (p.Asn1961Ser)
c.5183A>G (p.Asn1728Ser)
c.5930A>G (p.Asn1977Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729111T>GCA394554917CREBBPc.5936A>C (p.Asn1979Thr)
c.5822A>C (p.Asn1941Thr)
c.5891A>C (p.Asn1964Thr)
c.5519A>C (p.Asn1840Thr)
c.5675A>C (p.Asn1892Thr)
c.5882A>C (p.Asn1961Thr)
c.5183A>C (p.Asn1728Thr)
c.5930A>C (p.Asn1977Thr)
dbSNP
16g.3729111T=CA2202916231CREBBPc.5936A= (p.Asn1979=)
c.5822A= (p.Asn1941=)
c.5891A= (p.Asn1964=)
c.5519A= (p.Asn1840=)
c.5675A= (p.Asn1892=)
c.5882A= (p.Asn1961=)
c.5183A= (p.Asn1728=)
c.5930A= (p.Asn1977=)
16g.3729112T>ACA394554924CREBBPc.5935A>T (p.Asn1979Tyr)
c.5821A>T (p.Asn1941Tyr)
c.5890A>T (p.Asn1964Tyr)
c.5518A>T (p.Asn1840Tyr)
c.5674A>T (p.Asn1892Tyr)
c.5881A>T (p.Asn1961Tyr)
c.5182A>T (p.Asn1728Tyr)
c.5929A>T (p.Asn1977Tyr)
16g.3729112T>CCA394554925CREBBPc.5935A>G (p.Asn1979Asp)
c.5821A>G (p.Asn1941Asp)
c.5890A>G (p.Asn1964Asp)
c.5518A>G (p.Asn1840Asp)
c.5674A>G (p.Asn1892Asp)
c.5881A>G (p.Asn1961Asp)
c.5182A>G (p.Asn1728Asp)
c.5929A>G (p.Asn1977Asp)
16g.3729112T>GCA394554926CREBBPc.5935A>C (p.Asn1979His)
c.5821A>C (p.Asn1941His)
c.5890A>C (p.Asn1964His)
c.5518A>C (p.Asn1840His)
c.5674A>C (p.Asn1892His)
c.5881A>C (p.Asn1961His)
c.5182A>C (p.Asn1728His)
c.5929A>C (p.Asn1977His)
16g.3729113G>ACA7869221CREBBPc.5934C>T (p.Asn1978=)
c.5820C>T (p.Asn1940=)
c.5889C>T (p.Asn1963=)
c.5517C>T (p.Asn1839=)
c.5673C>T (p.Asn1891=)
c.5880C>T (p.Asn1960=)
c.5181C>T (p.Asn1727=)
c.5928C>T (p.Asn1976=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729113G>CCA7869222CREBBPc.5934C>G (p.Asn1978Lys)
c.5820C>G (p.Asn1940Lys)
c.5889C>G (p.Asn1963Lys)
c.5517C>G (p.Asn1839Lys)
c.5673C>G (p.Asn1891Lys)
c.5880C>G (p.Asn1960Lys)
c.5181C>G (p.Asn1727Lys)
c.5928C>G (p.Asn1976Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729113G=CA2202916232CREBBPc.5934C= (p.Asn1978=)
c.5820C= (p.Asn1940=)
c.5889C= (p.Asn1963=)
c.5517C= (p.Asn1839=)
c.5673C= (p.Asn1891=)
c.5880C= (p.Asn1960=)
c.5181C= (p.Asn1727=)
c.5928C= (p.Asn1976=)
16g.3729113G>TCA394554930CREBBPc.5934C>A (p.Asn1978Lys)
c.5820C>A (p.Asn1940Lys)
c.5889C>A (p.Asn1963Lys)
c.5517C>A (p.Asn1839Lys)
c.5673C>A (p.Asn1891Lys)
c.5880C>A (p.Asn1960Lys)
c.5181C>A (p.Asn1727Lys)
c.5928C>A (p.Asn1976Lys)
gnomAD v4
16g.3729114T>ACA7869223CREBBPc.5933A>T (p.Asn1978Ile)
c.5819A>T (p.Asn1940Ile)
c.5888A>T (p.Asn1963Ile)
c.5516A>T (p.Asn1839Ile)
c.5672A>T (p.Asn1891Ile)
c.5879A>T (p.Asn1960Ile)
c.5180A>T (p.Asn1727Ile)
c.5927A>T (p.Asn1976Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729114T>CCA148132CREBBPc.5933A>G (p.Asn1978Ser)
c.5819A>G (p.Asn1940Ser)
c.5888A>G (p.Asn1963Ser)
c.5516A>G (p.Asn1839Ser)
c.5672A>G (p.Asn1891Ser)
c.5879A>G (p.Asn1960Ser)
c.5180A>G (p.Asn1727Ser)
c.5927A>G (p.Asn1976Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729114T>GCA394554934CREBBPc.5933A>C (p.Asn1978Thr)
c.5819A>C (p.Asn1940Thr)
c.5888A>C (p.Asn1963Thr)
c.5516A>C (p.Asn1839Thr)
c.5672A>C (p.Asn1891Thr)
c.5879A>C (p.Asn1960Thr)
c.5180A>C (p.Asn1727Thr)
c.5927A>C (p.Asn1976Thr)
dbSNP
16g.3729114T=CA2202916233CREBBPc.5933A= (p.Asn1978=)
c.5819A= (p.Asn1940=)
c.5888A= (p.Asn1963=)
c.5516A= (p.Asn1839=)
c.5672A= (p.Asn1891=)
c.5879A= (p.Asn1960=)
c.5180A= (p.Asn1727=)
c.5927A= (p.Asn1976=)
16g.3729115T>ACA394554936CREBBPc.5932A>T (p.Asn1978Tyr)
c.5818A>T (p.Asn1940Tyr)
c.5887A>T (p.Asn1963Tyr)
c.5515A>T (p.Asn1839Tyr)
c.5671A>T (p.Asn1891Tyr)
c.5878A>T (p.Asn1960Tyr)
c.5179A>T (p.Asn1727Tyr)
c.5926A>T (p.Asn1976Tyr)
dbSNP
16g.3729115T>CCA394554937CREBBPc.5932A>G (p.Asn1978Asp)
c.5818A>G (p.Asn1940Asp)
c.5887A>G (p.Asn1963Asp)
c.5515A>G (p.Asn1839Asp)
c.5671A>G (p.Asn1891Asp)
c.5878A>G (p.Asn1960Asp)
c.5179A>G (p.Asn1727Asp)
c.5926A>G (p.Asn1976Asp)
dbSNP gnomAD v4 COSMIC
16g.3729115T>GCA394554939CREBBPc.5932A>C (p.Asn1978His)
c.5818A>C (p.Asn1940His)
c.5887A>C (p.Asn1963His)
c.5515A>C (p.Asn1839His)
c.5671A>C (p.Asn1891His)
c.5878A>C (p.Asn1960His)
c.5179A>C (p.Asn1727His)
c.5926A>C (p.Asn1976His)
16g.3729116G>ACA493394314CREBBPc.5931C>T (p.Ile1977=)
c.5817C>T (p.Ile1939=)
c.5886C>T (p.Ile1962=)
c.5514C>T (p.Ile1838=)
c.5670C>T (p.Ile1890=)
c.5877C>T (p.Ile1959=)
c.5178C>T (p.Ile1726=)
c.5925C>T (p.Ile1975=)
dbSNP gnomAD v2 gnomAD v4
16g.3729116G>CCA394554941CREBBPc.5931C>G (p.Ile1977Met)
c.5817C>G (p.Ile1939Met)
c.5886C>G (p.Ile1962Met)
c.5514C>G (p.Ile1838Met)
c.5670C>G (p.Ile1890Met)
c.5877C>G (p.Ile1959Met)
c.5178C>G (p.Ile1726Met)
c.5925C>G (p.Ile1975Met)
gnomAD v4
16g.3729116G=CA2202916234CREBBPc.5931C= (p.Ile1977=)
c.5817C= (p.Ile1939=)
c.5886C= (p.Ile1962=)
c.5514C= (p.Ile1838=)
c.5670C= (p.Ile1890=)
c.5877C= (p.Ile1959=)
c.5178C= (p.Ile1726=)
c.5925C= (p.Ile1975=)
16g.3729116G>TCA493394313CREBBPc.5931C>A (p.Ile1977=)
c.5817C>A (p.Ile1939=)
c.5886C>A (p.Ile1962=)
c.5514C>A (p.Ile1838=)
c.5670C>A (p.Ile1890=)
c.5877C>A (p.Ile1959=)
c.5178C>A (p.Ile1726=)
c.5925C>A (p.Ile1975=)
dbSNP gnomAD v4
16g.3729117A=CA2202916235CREBBPc.5930T= (p.Ile1977=)
c.5816T= (p.Ile1939=)
c.5885T= (p.Ile1962=)
c.5513T= (p.Ile1838=)
c.5669T= (p.Ile1890=)
c.5876T= (p.Ile1959=)
c.5177T= (p.Ile1726=)
c.5924T= (p.Ile1975=)
16g.3729117A>CCA394554944CREBBPc.5930T>G (p.Ile1977Ser)
c.5816T>G (p.Ile1939Ser)
c.5885T>G (p.Ile1962Ser)
c.5513T>G (p.Ile1838Ser)
c.5669T>G (p.Ile1890Ser)
c.5876T>G (p.Ile1959Ser)
c.5177T>G (p.Ile1726Ser)
c.5924T>G (p.Ile1975Ser)
16g.3729117A>GCA394554946CREBBPc.5930T>C (p.Ile1977Thr)
c.5816T>C (p.Ile1939Thr)
c.5885T>C (p.Ile1962Thr)
c.5513T>C (p.Ile1838Thr)
c.5669T>C (p.Ile1890Thr)
c.5876T>C (p.Ile1959Thr)
c.5177T>C (p.Ile1726Thr)
c.5924T>C (p.Ile1975Thr)
dbSNP
16g.3729117A>TCA7869224CREBBPc.5930T>A (p.Ile1977Asn)
c.5816T>A (p.Ile1939Asn)
c.5885T>A (p.Ile1962Asn)
c.5513T>A (p.Ile1838Asn)
c.5669T>A (p.Ile1890Asn)
c.5876T>A (p.Ile1959Asn)
c.5177T>A (p.Ile1726Asn)
c.5924T>A (p.Ile1975Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729118T>ACA394554948CREBBPc.5929A>T (p.Ile1977Phe)
c.5815A>T (p.Ile1939Phe)
c.5884A>T (p.Ile1962Phe)
c.5512A>T (p.Ile1838Phe)
c.5668A>T (p.Ile1890Phe)
c.5875A>T (p.Ile1959Phe)
c.5176A>T (p.Ile1726Phe)
c.5923A>T (p.Ile1975Phe)
16g.3729118T>CCA394554950CREBBPc.5929A>G (p.Ile1977Val)
c.5815A>G (p.Ile1939Val)
c.5884A>G (p.Ile1962Val)
c.5512A>G (p.Ile1838Val)
c.5668A>G (p.Ile1890Val)
c.5875A>G (p.Ile1959Val)
c.5176A>G (p.Ile1726Val)
c.5923A>G (p.Ile1975Val)
dbSNP gnomAD v2 gnomAD v4
16g.3729118T>GCA394554951CREBBPc.5929A>C (p.Ile1977Leu)
c.5815A>C (p.Ile1939Leu)
c.5884A>C (p.Ile1962Leu)
c.5512A>C (p.Ile1838Leu)
c.5668A>C (p.Ile1890Leu)
c.5875A>C (p.Ile1959Leu)
c.5176A>C (p.Ile1726Leu)
c.5923A>C (p.Ile1975Leu)
16g.3729118T=CA2202916236CREBBPc.5929A= (p.Ile1977=)
c.5815A= (p.Ile1939=)
c.5884A= (p.Ile1962=)
c.5512A= (p.Ile1838=)
c.5668A= (p.Ile1890=)
c.5875A= (p.Ile1959=)
c.5176A= (p.Ile1726=)
c.5923A= (p.Ile1975=)
16g.3729119G>ACA493394316CREBBPc.5928C>T (p.Asn1976=)
c.5814C>T (p.Asn1938=)
c.5883C>T (p.Asn1961=)
c.5511C>T (p.Asn1837=)
c.5667C>T (p.Asn1889=)
c.5874C>T (p.Asn1958=)
c.5175C>T (p.Asn1725=)
c.5922C>T (p.Asn1974=)
dbSNP gnomAD v2 gnomAD v4
16g.3729119G>CCA394554953CREBBPc.5928C>G (p.Asn1976Lys)
c.5814C>G (p.Asn1938Lys)
c.5883C>G (p.Asn1961Lys)
c.5511C>G (p.Asn1837Lys)
c.5667C>G (p.Asn1889Lys)
c.5874C>G (p.Asn1958Lys)
c.5175C>G (p.Asn1725Lys)
c.5922C>G (p.Asn1974Lys)
16g.3729119G=CA2202916237CREBBPc.5928C= (p.Asn1976=)
c.5814C= (p.Asn1938=)
c.5883C= (p.Asn1961=)
c.5511C= (p.Asn1837=)
c.5667C= (p.Asn1889=)
c.5874C= (p.Asn1958=)
c.5175C= (p.Asn1725=)
c.5922C= (p.Asn1974=)
16g.3729119G>TCA394554955CREBBPc.5928C>A (p.Asn1976Lys)
c.5814C>A (p.Asn1938Lys)
c.5883C>A (p.Asn1961Lys)
c.5511C>A (p.Asn1837Lys)
c.5667C>A (p.Asn1889Lys)
c.5874C>A (p.Asn1958Lys)
c.5175C>A (p.Asn1725Lys)
c.5922C>A (p.Asn1974Lys)
gnomAD v4
16g.3729120T>ACA394554958CREBBPc.5927A>T (p.Asn1976Ile)
c.5813A>T (p.Asn1938Ile)
c.5882A>T (p.Asn1961Ile)
c.5510A>T (p.Asn1837Ile)
c.5666A>T (p.Asn1889Ile)
c.5873A>T (p.Asn1958Ile)
c.5174A>T (p.Asn1725Ile)
c.5921A>T (p.Asn1974Ile)
dbSNP
16g.3729120T>CCA394554959CREBBPc.5927A>G (p.Asn1976Ser)
c.5813A>G (p.Asn1938Ser)
c.5882A>G (p.Asn1961Ser)
c.5510A>G (p.Asn1837Ser)
c.5666A>G (p.Asn1889Ser)
c.5873A>G (p.Asn1958Ser)
c.5174A>G (p.Asn1725Ser)
c.5921A>G (p.Asn1974Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729120T>GCA394554961CREBBPc.5927A>C (p.Asn1976Thr)
c.5813A>C (p.Asn1938Thr)
c.5882A>C (p.Asn1961Thr)
c.5510A>C (p.Asn1837Thr)
c.5666A>C (p.Asn1889Thr)
c.5873A>C (p.Asn1958Thr)
c.5174A>C (p.Asn1725Thr)
c.5921A>C (p.Asn1974Thr)
16g.3729120T=CA2202916238CREBBPc.5927A= (p.Asn1976=)
c.5813A= (p.Asn1938=)
c.5882A= (p.Asn1961=)
c.5510A= (p.Asn1837=)
c.5666A= (p.Asn1889=)
c.5873A= (p.Asn1958=)
c.5174A= (p.Asn1725=)
c.5921A= (p.Asn1974=)
16g.3729121T>ACA394554963CREBBPc.5926A>T (p.Asn1976Tyr)
c.5812A>T (p.Asn1938Tyr)
c.5881A>T (p.Asn1961Tyr)
c.5509A>T (p.Asn1837Tyr)
c.5665A>T (p.Asn1889Tyr)
c.5872A>T (p.Asn1958Tyr)
c.5173A>T (p.Asn1725Tyr)
c.5920A>T (p.Asn1974Tyr)
16g.3729121T>CCA394554965CREBBPc.5926A>G (p.Asn1976Asp)
c.5812A>G (p.Asn1938Asp)
c.5881A>G (p.Asn1961Asp)
c.5509A>G (p.Asn1837Asp)
c.5665A>G (p.Asn1889Asp)
c.5872A>G (p.Asn1958Asp)
c.5173A>G (p.Asn1725Asp)
c.5920A>G (p.Asn1974Asp)
gnomAD v4
16g.3729121T>GCA394554967CREBBPc.5926A>C (p.Asn1976His)
c.5812A>C (p.Asn1938His)
c.5881A>C (p.Asn1961His)
c.5509A>C (p.Asn1837His)
c.5665A>C (p.Asn1889His)
c.5872A>C (p.Asn1958His)
c.5173A>C (p.Asn1725His)
c.5920A>C (p.Asn1974His)
16g.3729122C>ACA276971887CREBBPc.5925G>T (p.Val1975=)
c.5811G>T (p.Val1937=)
c.5880G>T (p.Val1960=)
c.5508G>T (p.Val1836=)
c.5664G>T (p.Val1888=)
c.5871G>T (p.Val1957=)
c.5172G>T (p.Val1724=)
c.5919G>T (p.Val1973=)
dbSNP gnomAD v4
16g.3729122C=CA2202916239CREBBPc.5925G= (p.Val1975=)
c.5811G= (p.Val1937=)
c.5880G= (p.Val1960=)
c.5508G= (p.Val1836=)
c.5664G= (p.Val1888=)
c.5871G= (p.Val1957=)
c.5172G= (p.Val1724=)
c.5919G= (p.Val1973=)
16g.3729122C>GCA493394321CREBBPc.5925G>C (p.Val1975=)
c.5811G>C (p.Val1937=)
c.5880G>C (p.Val1960=)
c.5508G>C (p.Val1836=)
c.5664G>C (p.Val1888=)
c.5871G>C (p.Val1957=)
c.5172G>C (p.Val1724=)
c.5919G>C (p.Val1973=)
dbSNP
16g.3729122C>TCA7869225CREBBPc.5925G>A (p.Val1975=)
c.5811G>A (p.Val1937=)
c.5880G>A (p.Val1960=)
c.5508G>A (p.Val1836=)
c.5664G>A (p.Val1888=)
c.5871G>A (p.Val1957=)
c.5172G>A (p.Val1724=)
c.5919G>A (p.Val1973=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729123A>CCA394554971CREBBPc.5924T>G (p.Val1975Gly)
c.5810T>G (p.Val1937Gly)
c.5879T>G (p.Val1960Gly)
c.5507T>G (p.Val1836Gly)
c.5663T>G (p.Val1888Gly)
c.5870T>G (p.Val1957Gly)
c.5171T>G (p.Val1724Gly)
c.5918T>G (p.Val1973Gly)
dbSNP gnomAD v4
16g.3729123A>GCA394554973CREBBPc.5924T>C (p.Val1975Ala)
c.5810T>C (p.Val1937Ala)
c.5879T>C (p.Val1960Ala)
c.5507T>C (p.Val1836Ala)
c.5663T>C (p.Val1888Ala)
c.5870T>C (p.Val1957Ala)
c.5171T>C (p.Val1724Ala)
c.5918T>C (p.Val1973Ala)
16g.3729123A>TCA394554969CREBBPc.5924T>A (p.Val1975Glu)
c.5810T>A (p.Val1937Glu)
c.5879T>A (p.Val1960Glu)
c.5507T>A (p.Val1836Glu)
c.5663T>A (p.Val1888Glu)
c.5870T>A (p.Val1957Glu)
c.5171T>A (p.Val1724Glu)
c.5918T>A (p.Val1973Glu)
dbSNP
16g.3729124C>ACA394554975CREBBPc.5923G>T (p.Val1975Leu)
c.5809G>T (p.Val1937Leu)
c.5878G>T (p.Val1960Leu)
c.5506G>T (p.Val1836Leu)
c.5662G>T (p.Val1888Leu)
c.5869G>T (p.Val1957Leu)
c.5170G>T (p.Val1724Leu)
c.5917G>T (p.Val1973Leu)
gnomAD v4
16g.3729124C>GCA394554977CREBBPc.5923G>C (p.Val1975Leu)
c.5809G>C (p.Val1937Leu)
c.5878G>C (p.Val1960Leu)
c.5506G>C (p.Val1836Leu)
c.5662G>C (p.Val1888Leu)
c.5869G>C (p.Val1957Leu)
c.5170G>C (p.Val1724Leu)
c.5917G>C (p.Val1973Leu)
dbSNP gnomAD v4
16g.3729124C>TCA394554979CREBBPc.5923G>A (p.Val1975Met)
c.5809G>A (p.Val1937Met)
c.5878G>A (p.Val1960Met)
c.5506G>A (p.Val1836Met)
c.5662G>A (p.Val1888Met)
c.5869G>A (p.Val1957Met)
c.5170G>A (p.Val1724Met)
c.5917G>A (p.Val1973Met)
dbSNP gnomAD v4
16g.3729125C>ACA493394324CREBBPc.5922G>T (p.Arg1974=)
c.5808G>T (p.Arg1936=)
c.5877G>T (p.Arg1959=)
c.5505G>T (p.Arg1835=)
c.5661G>T (p.Arg1887=)
c.5868G>T (p.Arg1956=)
c.5169G>T (p.Arg1723=)
c.5916G>T (p.Arg1972=)
ClinVar dbSNP gnomAD v4
16g.3729125C=CA2202916240CREBBPc.5922G= (p.Arg1974=)
c.5808G= (p.Arg1936=)
c.5877G= (p.Arg1959=)
c.5505G= (p.Arg1835=)
c.5661G= (p.Arg1887=)
c.5868G= (p.Arg1956=)
c.5169G= (p.Arg1723=)
c.5916G= (p.Arg1972=)
16g.3729125C>GCA493394325CREBBPc.5922G>C (p.Arg1974=)
c.5808G>C (p.Arg1936=)
c.5877G>C (p.Arg1959=)
c.5505G>C (p.Arg1835=)
c.5661G>C (p.Arg1887=)
c.5868G>C (p.Arg1956=)
c.5169G>C (p.Arg1723=)
c.5916G>C (p.Arg1972=)
dbSNP
16g.3729125C>TCA7869226CREBBPc.5922G>A (p.Arg1974=)
c.5808G>A (p.Arg1936=)
c.5877G>A (p.Arg1959=)
c.5505G>A (p.Arg1835=)
c.5661G>A (p.Arg1887=)
c.5868G>A (p.Arg1956=)
c.5169G>A (p.Arg1723=)
c.5916G>A (p.Arg1972=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729126C>ACA394554982CREBBPc.5921G>T (p.Arg1974Leu)
c.5807G>T (p.Arg1936Leu)
c.5876G>T (p.Arg1959Leu)
c.5504G>T (p.Arg1835Leu)
c.5660G>T (p.Arg1887Leu)
c.5867G>T (p.Arg1956Leu)
c.5168G>T (p.Arg1723Leu)
c.5915G>T (p.Arg1972Leu)
dbSNP gnomAD v4
16g.3729126C=CA2202916241CREBBPc.5921G= (p.Arg1974=)
c.5807G= (p.Arg1936=)
c.5876G= (p.Arg1959=)
c.5504G= (p.Arg1835=)
c.5660G= (p.Arg1887=)
c.5867G= (p.Arg1956=)
c.5168G= (p.Arg1723=)
c.5915G= (p.Arg1972=)
16g.3729126C>GCA394554984CREBBPc.5921G>C (p.Arg1974Pro)
c.5807G>C (p.Arg1936Pro)
c.5876G>C (p.Arg1959Pro)
c.5504G>C (p.Arg1835Pro)
c.5660G>C (p.Arg1887Pro)
c.5867G>C (p.Arg1956Pro)
c.5168G>C (p.Arg1723Pro)
c.5915G>C (p.Arg1972Pro)
dbSNP
16g.3729126C>TCA7869227CREBBPc.5921G>A (p.Arg1974Gln)
c.5807G>A (p.Arg1936Gln)
c.5876G>A (p.Arg1959Gln)
c.5504G>A (p.Arg1835Gln)
c.5660G>A (p.Arg1887Gln)
c.5867G>A (p.Arg1956Gln)
c.5168G>A (p.Arg1723Gln)
c.5915G>A (p.Arg1972Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729127G>ACA394554987CREBBPc.5920C>T (p.Arg1974Trp)
c.5806C>T (p.Arg1936Trp)
c.5875C>T (p.Arg1959Trp)
c.5503C>T (p.Arg1835Trp)
c.5659C>T (p.Arg1887Trp)
c.5866C>T (p.Arg1956Trp)
c.5167C>T (p.Arg1723Trp)
c.5914C>T (p.Arg1972Trp)
dbSNP gnomAD v2 gnomAD v4
16g.3729127G>CCA394554989CREBBPc.5920C>G (p.Arg1974Gly)
c.5806C>G (p.Arg1936Gly)
c.5875C>G (p.Arg1959Gly)
c.5503C>G (p.Arg1835Gly)
c.5659C>G (p.Arg1887Gly)
c.5866C>G (p.Arg1956Gly)
c.5167C>G (p.Arg1723Gly)
c.5914C>G (p.Arg1972Gly)
16g.3729127G=CA2202916242CREBBPc.5920C= (p.Arg1974=)
c.5806C= (p.Arg1936=)
c.5875C= (p.Arg1959=)
c.5503C= (p.Arg1835=)
c.5659C= (p.Arg1887=)
c.5866C= (p.Arg1956=)
c.5167C= (p.Arg1723=)
c.5914C= (p.Arg1972=)
16g.3729127G>TCA493394326CREBBPc.5920C>A (p.Arg1974=)
c.5806C>A (p.Arg1936=)
c.5875C>A (p.Arg1959=)
c.5503C>A (p.Arg1835=)
c.5659C>A (p.Arg1887=)
c.5866C>A (p.Arg1956=)
c.5167C>A (p.Arg1723=)
c.5914C>A (p.Arg1972=)
gnomAD v4
16g.3729128G>ACA493394329CREBBPc.5919C>T (p.Tyr1973=)
c.5805C>T (p.Tyr1935=)
c.5874C>T (p.Tyr1958=)
c.5502C>T (p.Tyr1834=)
c.5658C>T (p.Tyr1886=)
c.5865C>T (p.Tyr1955=)
c.5166C>T (p.Tyr1722=)
c.5913C>T (p.Tyr1971=)
ClinVar dbSNP gnomAD v4
16g.3729128G>CCA394554990CREBBPc.5919C>G (p.Tyr1973Ter)
c.5805C>G (p.Tyr1935Ter)
c.5874C>G (p.Tyr1958Ter)
c.5502C>G (p.Tyr1834Ter)
c.5658C>G (p.Tyr1886Ter)
c.5865C>G (p.Tyr1955Ter)
c.5166C>G (p.Tyr1722Ter)
c.5913C>G (p.Tyr1971Ter)
dbSNP
16g.3729128G>TCA394554991CREBBPc.5919C>A (p.Tyr1973Ter)
c.5805C>A (p.Tyr1935Ter)
c.5874C>A (p.Tyr1958Ter)
c.5502C>A (p.Tyr1834Ter)
c.5658C>A (p.Tyr1886Ter)
c.5865C>A (p.Tyr1955Ter)
c.5166C>A (p.Tyr1722Ter)
c.5913C>A (p.Tyr1971Ter)
gnomAD v4
16g.3729129T>ACA394554994CREBBPc.5918A>T (p.Tyr1973Phe)
c.5804A>T (p.Tyr1935Phe)
c.5873A>T (p.Tyr1958Phe)
c.5501A>T (p.Tyr1834Phe)
c.5657A>T (p.Tyr1886Phe)
c.5864A>T (p.Tyr1955Phe)
c.5165A>T (p.Tyr1722Phe)
c.5912A>T (p.Tyr1971Phe)
dbSNP
16g.3729129T>CCA394554996CREBBPc.5918A>G (p.Tyr1973Cys)
c.5804A>G (p.Tyr1935Cys)
c.5873A>G (p.Tyr1958Cys)
c.5501A>G (p.Tyr1834Cys)
c.5657A>G (p.Tyr1886Cys)
c.5864A>G (p.Tyr1955Cys)
c.5165A>G (p.Tyr1722Cys)
c.5912A>G (p.Tyr1971Cys)
dbSNP
16g.3729129T>GCA394554997CREBBPc.5918A>C (p.Tyr1973Ser)
c.5804A>C (p.Tyr1935Ser)
c.5873A>C (p.Tyr1958Ser)
c.5501A>C (p.Tyr1834Ser)
c.5657A>C (p.Tyr1886Ser)
c.5864A>C (p.Tyr1955Ser)
c.5165A>C (p.Tyr1722Ser)
c.5912A>C (p.Tyr1971Ser)
dbSNP
16g.3729130A>CCA394555004CREBBPc.5917T>G (p.Tyr1973Asp)
c.5803T>G (p.Tyr1935Asp)
c.5872T>G (p.Tyr1958Asp)
c.5500T>G (p.Tyr1834Asp)
c.5656T>G (p.Tyr1886Asp)
c.5863T>G (p.Tyr1955Asp)
c.5164T>G (p.Tyr1722Asp)
c.5911T>G (p.Tyr1971Asp)
dbSNP
16g.3729130A>GCA394555002CREBBPc.5917T>C (p.Tyr1973His)
c.5803T>C (p.Tyr1935His)
c.5872T>C (p.Tyr1958His)
c.5500T>C (p.Tyr1834His)
c.5656T>C (p.Tyr1886His)
c.5863T>C (p.Tyr1955His)
c.5164T>C (p.Tyr1722His)
c.5911T>C (p.Tyr1971His)
dbSNP gnomAD v4
16g.3729130A>TCA394555001CREBBPc.5917T>A (p.Tyr1973Asn)
c.5803T>A (p.Tyr1935Asn)
c.5872T>A (p.Tyr1958Asn)
c.5500T>A (p.Tyr1834Asn)
c.5656T>A (p.Tyr1886Asn)
c.5863T>A (p.Tyr1955Asn)
c.5164T>A (p.Tyr1722Asn)
c.5911T>A (p.Tyr1971Asn)
dbSNP
16g.3729131C>ACA493394336CREBBPc.5916G>T (p.Leu1972=)
c.5802G>T (p.Leu1934=)
c.5871G>T (p.Leu1957=)
c.5499G>T (p.Leu1833=)
c.5655G>T (p.Leu1885=)
c.5862G>T (p.Leu1954=)
c.5163G>T (p.Leu1721=)
c.5910G>T (p.Leu1970=)
gnomAD v4
16g.3729131C>GCA493394337CREBBPc.5916G>C (p.Leu1972=)
c.5802G>C (p.Leu1934=)
c.5871G>C (p.Leu1957=)
c.5499G>C (p.Leu1833=)
c.5655G>C (p.Leu1885=)
c.5862G>C (p.Leu1954=)
c.5163G>C (p.Leu1721=)
c.5910G>C (p.Leu1970=)
dbSNP
16g.3729131C>TCA493394335CREBBPc.5916G>A (p.Leu1972=)
c.5802G>A (p.Leu1934=)
c.5871G>A (p.Leu1957=)
c.5499G>A (p.Leu1833=)
c.5655G>A (p.Leu1885=)
c.5862G>A (p.Leu1954=)
c.5163G>A (p.Leu1721=)
c.5910G>A (p.Leu1970=)
dbSNP gnomAD v4
16g.3729132A=CA2202916243CREBBPc.5915T= (p.Leu1972=)
c.5801T= (p.Leu1934=)
c.5870T= (p.Leu1957=)
c.5498T= (p.Leu1833=)
c.5654T= (p.Leu1885=)
c.5861T= (p.Leu1954=)
c.5162T= (p.Leu1721=)
c.5909T= (p.Leu1970=)
16g.3729132A>CCA394555006CREBBPc.5915T>G (p.Leu1972Arg)
c.5801T>G (p.Leu1934Arg)
c.5870T>G (p.Leu1957Arg)
c.5498T>G (p.Leu1833Arg)
c.5654T>G (p.Leu1885Arg)
c.5861T>G (p.Leu1954Arg)
c.5162T>G (p.Leu1721Arg)
c.5909T>G (p.Leu1970Arg)
16g.3729132A>GCA394555009CREBBPc.5915T>C (p.Leu1972Pro)
c.5801T>C (p.Leu1934Pro)
c.5870T>C (p.Leu1957Pro)
c.5498T>C (p.Leu1833Pro)
c.5654T>C (p.Leu1885Pro)
c.5861T>C (p.Leu1954Pro)
c.5162T>C (p.Leu1721Pro)
c.5909T>C (p.Leu1970Pro)
dbSNP gnomAD v4
16g.3729132A>TCA394555008CREBBPc.5915T>A (p.Leu1972Gln)
c.5801T>A (p.Leu1934Gln)
c.5870T>A (p.Leu1957Gln)
c.5498T>A (p.Leu1833Gln)
c.5654T>A (p.Leu1885Gln)
c.5861T>A (p.Leu1954Gln)
c.5162T>A (p.Leu1721Gln)
c.5909T>A (p.Leu1970Gln)
gnomAD v4
16g.3729133G>ACA493394341CREBBPc.5914C>T (p.Leu1972=)
c.5800C>T (p.Leu1934=)
c.5869C>T (p.Leu1957=)
c.5497C>T (p.Leu1833=)
c.5653C>T (p.Leu1885=)
c.5860C>T (p.Leu1954=)
c.5161C>T (p.Leu1721=)
c.5908C>T (p.Leu1970=)
dbSNP gnomAD v2 gnomAD v4
16g.3729133G>CCA394555010CREBBPc.5914C>G (p.Leu1972Val)
c.5800C>G (p.Leu1934Val)
c.5869C>G (p.Leu1957Val)
c.5497C>G (p.Leu1833Val)
c.5653C>G (p.Leu1885Val)
c.5860C>G (p.Leu1954Val)
c.5161C>G (p.Leu1721Val)
c.5908C>G (p.Leu1970Val)
dbSNP
16g.3729133G=CA2202916244CREBBPc.5914C= (p.Leu1972=)
c.5800C= (p.Leu1934=)
c.5869C= (p.Leu1957=)
c.5497C= (p.Leu1833=)
c.5653C= (p.Leu1885=)
c.5860C= (p.Leu1954=)
c.5161C= (p.Leu1721=)
c.5908C= (p.Leu1970=)
16g.3729133G>TCA394555011CREBBPc.5914C>A (p.Leu1972Met)
c.5800C>A (p.Leu1934Met)
c.5869C>A (p.Leu1957Met)
c.5497C>A (p.Leu1833Met)
c.5653C>A (p.Leu1885Met)
c.5860C>A (p.Leu1954Met)
c.5161C>A (p.Leu1721Met)
c.5908C>A (p.Leu1970Met)
dbSNP gnomAD v4
16g.3729134G>ACA493394343CREBBPc.5913C>T (p.His1971=)
c.5799C>T (p.His1933=)
c.5868C>T (p.His1956=)
c.5496C>T (p.His1832=)
c.5652C>T (p.His1884=)
c.5859C>T (p.His1953=)
c.5160C>T (p.His1720=)
c.5907C>T (p.His1969=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729134G>CCA394555012CREBBPc.5913C>G (p.His1971Gln)
c.5799C>G (p.His1933Gln)
c.5868C>G (p.His1956Gln)
c.5496C>G (p.His1832Gln)
c.5652C>G (p.His1884Gln)
c.5859C>G (p.His1953Gln)
c.5160C>G (p.His1720Gln)
c.5907C>G (p.His1969Gln)
16g.3729134G=CA2202916246CREBBPc.5913C= (p.His1971=)
c.5799C= (p.His1933=)
c.5868C= (p.His1956=)
c.5496C= (p.His1832=)
c.5652C= (p.His1884=)
c.5859C= (p.His1953=)
c.5160C= (p.His1720=)
c.5907C= (p.His1969=)
16g.3729134G>TCA394555013CREBBPc.5913C>A (p.His1971Gln)
c.5799C>A (p.His1933Gln)
c.5868C>A (p.His1956Gln)
c.5496C>A (p.His1832Gln)
c.5652C>A (p.His1884Gln)
c.5859C>A (p.His1953Gln)
c.5160C>A (p.His1720Gln)
c.5907C>A (p.His1969Gln)
gnomAD v4
16g.3729134_3729137delinsGTGCCA2202916245CREBBPc.5910_5913delinsGCAC (p.Gln1970=)
c.5796_5799delinsGCAC (p.Gln1932=)
c.5865_5868delinsGCAC (p.Gln1955=)
c.5493_5496delinsGCAC (p.Gln1831=)
c.5649_5652delinsGCAC (p.Gln1883=)
c.5856_5859delinsGCAC (p.Gln1952=)
c.5157_5160delinsGCAC (p.Gln1719=)
c.5904_5907delinsGCAC (p.Gln1968=)
16g.3729135T>ACA394555014CREBBPc.5912A>T (p.His1971Leu)
c.5798A>T (p.His1933Leu)
c.5867A>T (p.His1956Leu)
c.5495A>T (p.His1832Leu)
c.5651A>T (p.His1884Leu)
c.5858A>T (p.His1953Leu)
c.5159A>T (p.His1720Leu)
c.5906A>T (p.His1969Leu)
dbSNP
16g.3729135T>CCA394555015CREBBPc.5912A>G (p.His1971Arg)
c.5798A>G (p.His1933Arg)
c.5867A>G (p.His1956Arg)
c.5495A>G (p.His1832Arg)
c.5651A>G (p.His1884Arg)
c.5858A>G (p.His1953Arg)
c.5159A>G (p.His1720Arg)
c.5906A>G (p.His1969Arg)
16g.3729135T>GCA394555016CREBBPc.5912A>C (p.His1971Pro)
c.5798A>C (p.His1933Pro)
c.5867A>C (p.His1956Pro)
c.5495A>C (p.His1832Pro)
c.5651A>C (p.His1884Pro)
c.5858A>C (p.His1953Pro)
c.5159A>C (p.His1720Pro)
c.5906A>C (p.His1969Pro)
16g.3729146_3729148dupCA2631403552CREBBPc.5910_5912dup (p.Gln1970_His1971insGln)
c.5796_5798dup (p.Gln1932_His1933insGln)
c.5865_5867dup (p.Gln1955_His1956insGln)
c.5493_5495dup (p.Gln1831_His1832insGln)
c.5649_5651dup (p.Gln1883_His1884insGln)
c.5856_5858dup (p.Gln1952_His1953insGln)
c.5157_5159dup (p.Gln1719_His1720insGln)
c.5904_5906dup (p.Gln1968_His1969insGln)
gnomAD v4
16g.3729146_3729148delCA7869228CREBBPc.5910_5912del (p.Gln1970del)
c.5796_5798del (p.Gln1932del)
c.5865_5867del (p.Gln1955del)
c.5493_5495del (p.Gln1831del)
c.5649_5651del (p.Gln1883del)
c.5856_5858del (p.Gln1952del)
c.5157_5159del (p.Gln1719del)
c.5904_5906del (p.Gln1968del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729136G>ACA7869229CREBBPc.5911C>T (p.His1971Tyr)
c.5797C>T (p.His1933Tyr)
c.5866C>T (p.His1956Tyr)
c.5494C>T (p.His1832Tyr)
c.5650C>T (p.His1884Tyr)
c.5857C>T (p.His1953Tyr)
c.5158C>T (p.His1720Tyr)
c.5905C>T (p.His1969Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729136G>CCA394555017CREBBPc.5911C>G (p.His1971Asp)
c.5797C>G (p.His1933Asp)
c.5866C>G (p.His1956Asp)
c.5494C>G (p.His1832Asp)
c.5650C>G (p.His1884Asp)
c.5857C>G (p.His1953Asp)
c.5158C>G (p.His1720Asp)
c.5905C>G (p.His1969Asp)
dbSNP
16g.3729136G=CA2202916247CREBBPc.5911C= (p.His1971=)
c.5797C= (p.His1933=)
c.5866C= (p.His1956=)
c.5494C= (p.His1832=)
c.5650C= (p.His1884=)
c.5857C= (p.His1953=)
c.5158C= (p.His1720=)
c.5905C= (p.His1969=)
16g.3729136G>TCA394555018CREBBPc.5911C>A (p.His1971Asn)
c.5797C>A (p.His1933Asn)
c.5866C>A (p.His1956Asn)
c.5494C>A (p.His1832Asn)
c.5650C>A (p.His1884Asn)
c.5857C>A (p.His1953Asn)
c.5158C>A (p.His1720Asn)
c.5905C>A (p.His1969Asn)
gnomAD v4
16g.3729137C>ACA7869230CREBBPc.5910G>T (p.Gln1970His)
c.5796G>T (p.Gln1932His)
c.5865G>T (p.Gln1955His)
c.5493G>T (p.Gln1831His)
c.5649G>T (p.Gln1883His)
c.5856G>T (p.Gln1952His)
c.5157G>T (p.Gln1719His)
c.5904G>T (p.Gln1968His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729137C=CA2202916248CREBBPc.5910G= (p.Gln1970=)
c.5796G= (p.Gln1932=)
c.5865G= (p.Gln1955=)
c.5493G= (p.Gln1831=)
c.5649G= (p.Gln1883=)
c.5856G= (p.Gln1952=)
c.5157G= (p.Gln1719=)
c.5904G= (p.Gln1968=)
16g.3729137C>GCA394555019CREBBPc.5910G>C (p.Gln1970His)
c.5796G>C (p.Gln1932His)
c.5865G>C (p.Gln1955His)
c.5493G>C (p.Gln1831His)
c.5649G>C (p.Gln1883His)
c.5856G>C (p.Gln1952His)
c.5157G>C (p.Gln1719His)
c.5904G>C (p.Gln1968His)
dbSNP gnomAD v4
16g.3729137C>TCA493394350CREBBPc.5910G>A (p.Gln1970=)
c.5796G>A (p.Gln1932=)
c.5865G>A (p.Gln1955=)
c.5493G>A (p.Gln1831=)
c.5649G>A (p.Gln1883=)
c.5856G>A (p.Gln1952=)
c.5157G>A (p.Gln1719=)
c.5904G>A (p.Gln1968=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729138T>ACA394555022CREBBPc.5909A>T (p.Gln1970Leu)
c.5795A>T (p.Gln1932Leu)
c.5864A>T (p.Gln1955Leu)
c.5492A>T (p.Gln1831Leu)
c.5648A>T (p.Gln1883Leu)
c.5855A>T (p.Gln1952Leu)
c.5156A>T (p.Gln1719Leu)
c.5903A>T (p.Gln1968Leu)
dbSNP
16g.3729138T>CCA394555021CREBBPc.5909A>G (p.Gln1970Arg)
c.5795A>G (p.Gln1932Arg)
c.5864A>G (p.Gln1955Arg)
c.5492A>G (p.Gln1831Arg)
c.5648A>G (p.Gln1883Arg)
c.5855A>G (p.Gln1952Arg)
c.5156A>G (p.Gln1719Arg)
c.5903A>G (p.Gln1968Arg)
dbSNP gnomAD v4
16g.3729138T>GCA394555020CREBBPc.5909A>C (p.Gln1970Pro)
c.5795A>C (p.Gln1932Pro)
c.5864A>C (p.Gln1955Pro)
c.5492A>C (p.Gln1831Pro)
c.5648A>C (p.Gln1883Pro)
c.5855A>C (p.Gln1952Pro)
c.5156A>C (p.Gln1719Pro)
c.5903A>C (p.Gln1968Pro)
16g.3729139G>ACA394555023CREBBPc.5908C>T (p.Gln1970Ter)
c.5794C>T (p.Gln1932Ter)
c.5863C>T (p.Gln1955Ter)
c.5491C>T (p.Gln1831Ter)
c.5647C>T (p.Gln1883Ter)
c.5854C>T (p.Gln1952Ter)
c.5155C>T (p.Gln1719Ter)
c.5902C>T (p.Gln1968Ter)
dbSNP gnomAD v4
16g.3729139G>CCA394555024CREBBPc.5908C>G (p.Gln1970Glu)
c.5794C>G (p.Gln1932Glu)
c.5863C>G (p.Gln1955Glu)
c.5491C>G (p.Gln1831Glu)
c.5647C>G (p.Gln1883Glu)
c.5854C>G (p.Gln1952Glu)
c.5155C>G (p.Gln1719Glu)
c.5902C>G (p.Gln1968Glu)
ClinVar dbSNP
16g.3729139G>TCA394555025CREBBPc.5908C>A (p.Gln1970Lys)
c.5794C>A (p.Gln1932Lys)
c.5863C>A (p.Gln1955Lys)
c.5491C>A (p.Gln1831Lys)
c.5647C>A (p.Gln1883Lys)
c.5854C>A (p.Gln1952Lys)
c.5155C>A (p.Gln1719Lys)
c.5902C>A (p.Gln1968Lys)
gnomAD v4

Number of alleles fetched