Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.3729140C>ACA394555026CREBBPc.5907G>T (p.Gln1969His)
c.5793G>T (p.Gln1931His)
c.5862G>T (p.Gln1954His)
c.5490G>T (p.Gln1830His)
c.5646G>T (p.Gln1882His)
c.5853G>T (p.Gln1951His)
c.5154G>T (p.Gln1718His)
c.5901G>T (p.Gln1967His)
dbSNP gnomAD v4
16g.3729140C>GCA394555027CREBBPc.5907G>C (p.Gln1969His)
c.5793G>C (p.Gln1931His)
c.5862G>C (p.Gln1954His)
c.5490G>C (p.Gln1830His)
c.5646G>C (p.Gln1882His)
c.5853G>C (p.Gln1951His)
c.5154G>C (p.Gln1718His)
c.5901G>C (p.Gln1967His)
dbSNP
16g.3729140C>TCA493394354CREBBPc.5907G>A (p.Gln1969=)
c.5793G>A (p.Gln1931=)
c.5862G>A (p.Gln1954=)
c.5490G>A (p.Gln1830=)
c.5646G>A (p.Gln1882=)
c.5853G>A (p.Gln1951=)
c.5154G>A (p.Gln1718=)
c.5901G>A (p.Gln1967=)
dbSNP gnomAD v4
16g.3729141T>ACA394555028CREBBPc.5906A>T (p.Gln1969Leu)
c.5792A>T (p.Gln1931Leu)
c.5861A>T (p.Gln1954Leu)
c.5489A>T (p.Gln1830Leu)
c.5645A>T (p.Gln1882Leu)
c.5852A>T (p.Gln1951Leu)
c.5153A>T (p.Gln1718Leu)
c.5900A>T (p.Gln1967Leu)
16g.3729141T>CCA394555029CREBBPc.5906A>G (p.Gln1969Arg)
c.5792A>G (p.Gln1931Arg)
c.5861A>G (p.Gln1954Arg)
c.5489A>G (p.Gln1830Arg)
c.5645A>G (p.Gln1882Arg)
c.5852A>G (p.Gln1951Arg)
c.5153A>G (p.Gln1718Arg)
c.5900A>G (p.Gln1967Arg)
16g.3729141T>GCA394555030CREBBPc.5906A>C (p.Gln1969Pro)
c.5792A>C (p.Gln1931Pro)
c.5861A>C (p.Gln1954Pro)
c.5489A>C (p.Gln1830Pro)
c.5645A>C (p.Gln1882Pro)
c.5852A>C (p.Gln1951Pro)
c.5153A>C (p.Gln1718Pro)
c.5900A>C (p.Gln1967Pro)
16g.3729142G>ACA394555031CREBBPc.5905C>T (p.Gln1969Ter)
c.5791C>T (p.Gln1931Ter)
c.5860C>T (p.Gln1954Ter)
c.5488C>T (p.Gln1830Ter)
c.5644C>T (p.Gln1882Ter)
c.5851C>T (p.Gln1951Ter)
c.5152C>T (p.Gln1718Ter)
c.5899C>T (p.Gln1967Ter)
ClinVar dbSNP
16g.3729142G>CCA394555032CREBBPc.5905C>G (p.Gln1969Glu)
c.5791C>G (p.Gln1931Glu)
c.5860C>G (p.Gln1954Glu)
c.5488C>G (p.Gln1830Glu)
c.5644C>G (p.Gln1882Glu)
c.5851C>G (p.Gln1951Glu)
c.5152C>G (p.Gln1718Glu)
c.5899C>G (p.Gln1967Glu)
dbSNP
16g.3729142G=CA2202916249CREBBPc.5905C= (p.Gln1969=)
c.5791C= (p.Gln1931=)
c.5860C= (p.Gln1954=)
c.5488C= (p.Gln1830=)
c.5644C= (p.Gln1882=)
c.5851C= (p.Gln1951=)
c.5152C= (p.Gln1718=)
c.5899C= (p.Gln1967=)
16g.3729142G>TCA394555033CREBBPc.5905C>A (p.Gln1969Lys)
c.5791C>A (p.Gln1931Lys)
c.5860C>A (p.Gln1954Lys)
c.5488C>A (p.Gln1830Lys)
c.5644C>A (p.Gln1882Lys)
c.5851C>A (p.Gln1951Lys)
c.5152C>A (p.Gln1718Lys)
c.5899C>A (p.Gln1967Lys)
gnomAD v4
16g.3729143C>ACA394555034CREBBPc.5904G>T (p.Gln1968His)
c.5790G>T (p.Gln1930His)
c.5859G>T (p.Gln1953His)
c.5487G>T (p.Gln1829His)
c.5643G>T (p.Gln1881His)
c.5850G>T (p.Gln1950His)
c.5151G>T (p.Gln1717His)
c.5898G>T (p.Gln1966His)
gnomAD v4
16g.3729143C=CA2202916250CREBBPc.5904G= (p.Gln1968=)
c.5790G= (p.Gln1930=)
c.5859G= (p.Gln1953=)
c.5487G= (p.Gln1829=)
c.5643G= (p.Gln1881=)
c.5850G= (p.Gln1950=)
c.5151G= (p.Gln1717=)
c.5898G= (p.Gln1966=)
16g.3729143C>GCA394555035CREBBPc.5904G>C (p.Gln1968His)
c.5790G>C (p.Gln1930His)
c.5859G>C (p.Gln1953His)
c.5487G>C (p.Gln1829His)
c.5643G>C (p.Gln1881His)
c.5850G>C (p.Gln1950His)
c.5151G>C (p.Gln1717His)
c.5898G>C (p.Gln1966His)
dbSNP
16g.3729143C>TCA493394356CREBBPc.5904G>A (p.Gln1968=)
c.5790G>A (p.Gln1930=)
c.5859G>A (p.Gln1953=)
c.5487G>A (p.Gln1829=)
c.5643G>A (p.Gln1881=)
c.5850G>A (p.Gln1950=)
c.5151G>A (p.Gln1717=)
c.5898G>A (p.Gln1966=)
dbSNP gnomAD v4
16g.3729144T>ACA394555037CREBBPc.5903A>T (p.Gln1968Leu)
c.5789A>T (p.Gln1930Leu)
c.5858A>T (p.Gln1953Leu)
c.5486A>T (p.Gln1829Leu)
c.5642A>T (p.Gln1881Leu)
c.5849A>T (p.Gln1950Leu)
c.5150A>T (p.Gln1717Leu)
c.5897A>T (p.Gln1966Leu)
16g.3729144T>CCA394555038CREBBPc.5903A>G (p.Gln1968Arg)
c.5789A>G (p.Gln1930Arg)
c.5858A>G (p.Gln1953Arg)
c.5486A>G (p.Gln1829Arg)
c.5642A>G (p.Gln1881Arg)
c.5849A>G (p.Gln1950Arg)
c.5150A>G (p.Gln1717Arg)
c.5897A>G (p.Gln1966Arg)
gnomAD v4
16g.3729144T>GCA394555036CREBBPc.5903A>C (p.Gln1968Pro)
c.5789A>C (p.Gln1930Pro)
c.5858A>C (p.Gln1953Pro)
c.5486A>C (p.Gln1829Pro)
c.5642A>C (p.Gln1881Pro)
c.5849A>C (p.Gln1950Pro)
c.5150A>C (p.Gln1717Pro)
c.5897A>C (p.Gln1966Pro)
16g.3729145G>ACA394555039CREBBPc.5902C>T (p.Gln1968Ter)
c.5788C>T (p.Gln1930Ter)
c.5857C>T (p.Gln1953Ter)
c.5485C>T (p.Gln1829Ter)
c.5641C>T (p.Gln1881Ter)
c.5848C>T (p.Gln1950Ter)
c.5149C>T (p.Gln1717Ter)
c.5896C>T (p.Gln1966Ter)
ClinVar dbSNP gnomAD v4
16g.3729145G>CCA394555040CREBBPc.5902C>G (p.Gln1968Glu)
c.5788C>G (p.Gln1930Glu)
c.5857C>G (p.Gln1953Glu)
c.5485C>G (p.Gln1829Glu)
c.5641C>G (p.Gln1881Glu)
c.5848C>G (p.Gln1950Glu)
c.5149C>G (p.Gln1717Glu)
c.5896C>G (p.Gln1966Glu)
dbSNP
16g.3729145G>TCA394555041CREBBPc.5902C>A (p.Gln1968Lys)
c.5788C>A (p.Gln1930Lys)
c.5857C>A (p.Gln1953Lys)
c.5485C>A (p.Gln1829Lys)
c.5641C>A (p.Gln1881Lys)
c.5848C>A (p.Gln1950Lys)
c.5149C>A (p.Gln1717Lys)
c.5896C>A (p.Gln1966Lys)
gnomAD v4
16g.3729146C>ACA394555042CREBBPc.5901G>T (p.Gln1967His)
c.5787G>T (p.Gln1929His)
c.5856G>T (p.Gln1952His)
c.5484G>T (p.Gln1828His)
c.5640G>T (p.Gln1880His)
c.5847G>T (p.Gln1949His)
c.5148G>T (p.Gln1716His)
c.5895G>T (p.Gln1965His)
dbSNP gnomAD v4
16g.3729146C>GCA394555043CREBBPc.5901G>C (p.Gln1967His)
c.5787G>C (p.Gln1929His)
c.5856G>C (p.Gln1952His)
c.5484G>C (p.Gln1828His)
c.5640G>C (p.Gln1880His)
c.5847G>C (p.Gln1949His)
c.5148G>C (p.Gln1716His)
c.5895G>C (p.Gln1965His)
dbSNP
16g.3729146C>TCA493394359CREBBPc.5901G>A (p.Gln1967=)
c.5787G>A (p.Gln1929=)
c.5856G>A (p.Gln1952=)
c.5484G>A (p.Gln1828=)
c.5640G>A (p.Gln1880=)
c.5847G>A (p.Gln1949=)
c.5148G>A (p.Gln1716=)
c.5895G>A (p.Gln1965=)
dbSNP gnomAD v4
16g.3729146_3729147delinsCTCA2202916251CREBBPc.5900_5901delinsAG (p.Gln1967=)
c.5786_5787delinsAG (p.Gln1929=)
c.5855_5856delinsAG (p.Gln1952=)
c.5483_5484delinsAG (p.Gln1828=)
c.5639_5640delinsAG (p.Gln1880=)
c.5846_5847delinsAG (p.Gln1949=)
c.5147_5148delinsAG (p.Gln1716=)
c.5894_5895delinsAG (p.Gln1965=)
16g.3729147delCA620714449CREBBPc.5900del (p.Gln1967ArgfsTer9)
c.5786del (p.Gln1929ArgfsTer9)
c.5855del (p.Gln1952ArgfsTer9)
c.5483del (p.Gln1828ArgfsTer9)
c.5639del (p.Gln1880ArgfsTer9)
c.5846del (p.Gln1949ArgfsTer9)
c.5147del (p.Gln1716ArgfsTer9)
c.5894del (p.Gln1965ArgfsTer9)
dbSNP gnomAD v2
16g.3729147T>ACA394555044CREBBPc.5900A>T (p.Gln1967Leu)
c.5786A>T (p.Gln1929Leu)
c.5855A>T (p.Gln1952Leu)
c.5483A>T (p.Gln1828Leu)
c.5639A>T (p.Gln1880Leu)
c.5846A>T (p.Gln1949Leu)
c.5147A>T (p.Gln1716Leu)
c.5894A>T (p.Gln1965Leu)
16g.3729147T>CCA394555045CREBBPc.5900A>G (p.Gln1967Arg)
c.5786A>G (p.Gln1929Arg)
c.5855A>G (p.Gln1952Arg)
c.5483A>G (p.Gln1828Arg)
c.5639A>G (p.Gln1880Arg)
c.5846A>G (p.Gln1949Arg)
c.5147A>G (p.Gln1716Arg)
c.5894A>G (p.Gln1965Arg)
gnomAD v4
16g.3729147T>GCA394555047CREBBPc.5900A>C (p.Gln1967Pro)
c.5786A>C (p.Gln1929Pro)
c.5855A>C (p.Gln1952Pro)
c.5483A>C (p.Gln1828Pro)
c.5639A>C (p.Gln1880Pro)
c.5846A>C (p.Gln1949Pro)
c.5147A>C (p.Gln1716Pro)
c.5894A>C (p.Gln1965Pro)
16g.3729148G>ACA394555048CREBBPc.5899C>T (p.Gln1967Ter)
c.5785C>T (p.Gln1929Ter)
c.5854C>T (p.Gln1952Ter)
c.5482C>T (p.Gln1828Ter)
c.5638C>T (p.Gln1880Ter)
c.5845C>T (p.Gln1949Ter)
c.5146C>T (p.Gln1716Ter)
c.5893C>T (p.Gln1965Ter)
dbSNP gnomAD v4
16g.3729148G>CCA394555049CREBBPc.5899C>G (p.Gln1967Glu)
c.5785C>G (p.Gln1929Glu)
c.5854C>G (p.Gln1952Glu)
c.5482C>G (p.Gln1828Glu)
c.5638C>G (p.Gln1880Glu)
c.5845C>G (p.Gln1949Glu)
c.5146C>G (p.Gln1716Glu)
c.5893C>G (p.Gln1965Glu)
dbSNP
16g.3729148G=CA2202916252CREBBPc.5899C= (p.Gln1967=)
c.5785C= (p.Gln1929=)
c.5854C= (p.Gln1952=)
c.5482C= (p.Gln1828=)
c.5638C= (p.Gln1880=)
c.5845C= (p.Gln1949=)
c.5146C= (p.Gln1716=)
c.5893C= (p.Gln1965=)
16g.3729148G>TCA394555050CREBBPc.5899C>A (p.Gln1967Lys)
c.5785C>A (p.Gln1929Lys)
c.5854C>A (p.Gln1952Lys)
c.5482C>A (p.Gln1828Lys)
c.5638C>A (p.Gln1880Lys)
c.5845C>A (p.Gln1949Lys)
c.5146C>A (p.Gln1716Lys)
c.5893C>A (p.Gln1965Lys)
gnomAD v4
16g.3729149G>ACA493393847CREBBPc.5898C>T (p.Ala1966=)
c.5784C>T (p.Ala1928=)
c.5853C>T (p.Ala1951=)
c.5481C>T (p.Ala1827=)
c.5637C>T (p.Ala1879=)
c.5844C>T (p.Ala1948=)
c.5145C>T (p.Ala1715=)
c.5892C>T (p.Ala1964=)
dbSNP gnomAD v4
16g.3729149G>CCA493393850CREBBPc.5898C>G (p.Ala1966=)
c.5784C>G (p.Ala1928=)
c.5853C>G (p.Ala1951=)
c.5481C>G (p.Ala1827=)
c.5637C>G (p.Ala1879=)
c.5844C>G (p.Ala1948=)
c.5145C>G (p.Ala1715=)
c.5892C>G (p.Ala1964=)
dbSNP gnomAD v4
16g.3729149G=CA2202916253CREBBPc.5898C= (p.Ala1966=)
c.5784C= (p.Ala1928=)
c.5853C= (p.Ala1951=)
c.5481C= (p.Ala1827=)
c.5637C= (p.Ala1879=)
c.5844C= (p.Ala1948=)
c.5145C= (p.Ala1715=)
c.5892C= (p.Ala1964=)
16g.3729149G>TCA7869231CREBBPc.5898C>A (p.Ala1966=)
c.5784C>A (p.Ala1928=)
c.5853C>A (p.Ala1951=)
c.5481C>A (p.Ala1827=)
c.5637C>A (p.Ala1879=)
c.5844C>A (p.Ala1948=)
c.5145C>A (p.Ala1715=)
c.5892C>A (p.Ala1964=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729150G>ACA394555053CREBBPc.5897C>T (p.Ala1966Val)
c.5783C>T (p.Ala1928Val)
c.5852C>T (p.Ala1951Val)
c.5480C>T (p.Ala1827Val)
c.5636C>T (p.Ala1879Val)
c.5843C>T (p.Ala1948Val)
c.5144C>T (p.Ala1715Val)
c.5891C>T (p.Ala1964Val)
dbSNP gnomAD v4
16g.3729150G>CCA394555051CREBBPc.5897C>G (p.Ala1966Gly)
c.5783C>G (p.Ala1928Gly)
c.5852C>G (p.Ala1951Gly)
c.5480C>G (p.Ala1827Gly)
c.5636C>G (p.Ala1879Gly)
c.5843C>G (p.Ala1948Gly)
c.5144C>G (p.Ala1715Gly)
c.5891C>G (p.Ala1964Gly)
dbSNP
16g.3729150G>TCA394555052CREBBPc.5897C>A (p.Ala1966Asp)
c.5783C>A (p.Ala1928Asp)
c.5852C>A (p.Ala1951Asp)
c.5480C>A (p.Ala1827Asp)
c.5636C>A (p.Ala1879Asp)
c.5843C>A (p.Ala1948Asp)
c.5144C>A (p.Ala1715Asp)
c.5891C>A (p.Ala1964Asp)
dbSNP gnomAD v4
16g.3729151C>ACA394555054CREBBPc.5896G>T (p.Ala1966Ser)
c.5782G>T (p.Ala1928Ser)
c.5851G>T (p.Ala1951Ser)
c.5479G>T (p.Ala1827Ser)
c.5635G>T (p.Ala1879Ser)
c.5842G>T (p.Ala1948Ser)
c.5143G>T (p.Ala1715Ser)
c.5890G>T (p.Ala1964Ser)
dbSNP gnomAD v4
16g.3729151C=CA2202916254CREBBPc.5896G= (p.Ala1966=)
c.5782G= (p.Ala1928=)
c.5851G= (p.Ala1951=)
c.5479G= (p.Ala1827=)
c.5635G= (p.Ala1879=)
c.5842G= (p.Ala1948=)
c.5143G= (p.Ala1715=)
c.5890G= (p.Ala1964=)
16g.3729151C>GCA394555055CREBBPc.5896G>C (p.Ala1966Pro)
c.5782G>C (p.Ala1928Pro)
c.5851G>C (p.Ala1951Pro)
c.5479G>C (p.Ala1827Pro)
c.5635G>C (p.Ala1879Pro)
c.5842G>C (p.Ala1948Pro)
c.5143G>C (p.Ala1715Pro)
c.5890G>C (p.Ala1964Pro)
dbSNP gnomAD v2
16g.3729151C>TCA394555056CREBBPc.5896G>A (p.Ala1966Thr)
c.5782G>A (p.Ala1928Thr)
c.5851G>A (p.Ala1951Thr)
c.5479G>A (p.Ala1827Thr)
c.5635G>A (p.Ala1879Thr)
c.5842G>A (p.Ala1948Thr)
c.5143G>A (p.Ala1715Thr)
c.5890G>A (p.Ala1964Thr)
dbSNP gnomAD v4
16g.3729152C>ACA394555057CREBBPc.5895G>T (p.Glu1965Asp)
c.5781G>T (p.Glu1927Asp)
c.5850G>T (p.Glu1950Asp)
c.5478G>T (p.Glu1826Asp)
c.5634G>T (p.Glu1878Asp)
c.5841G>T (p.Glu1947Asp)
c.5142G>T (p.Glu1714Asp)
c.5889G>T (p.Glu1963Asp)
dbSNP gnomAD v4
16g.3729152C>GCA394555058CREBBPc.5895G>C (p.Glu1965Asp)
c.5781G>C (p.Glu1927Asp)
c.5850G>C (p.Glu1950Asp)
c.5478G>C (p.Glu1826Asp)
c.5634G>C (p.Glu1878Asp)
c.5841G>C (p.Glu1947Asp)
c.5142G>C (p.Glu1714Asp)
c.5889G>C (p.Glu1963Asp)
16g.3729152C>TCA493393852CREBBPc.5895G>A (p.Glu1965=)
c.5781G>A (p.Glu1927=)
c.5850G>A (p.Glu1950=)
c.5478G>A (p.Glu1826=)
c.5634G>A (p.Glu1878=)
c.5841G>A (p.Glu1947=)
c.5142G>A (p.Glu1714=)
c.5889G>A (p.Glu1963=)
dbSNP gnomAD v4 COSMIC
16g.3729153T>ACA394555059CREBBPc.5894A>T (p.Glu1965Val)
c.5780A>T (p.Glu1927Val)
c.5849A>T (p.Glu1950Val)
c.5477A>T (p.Glu1826Val)
c.5633A>T (p.Glu1878Val)
c.5840A>T (p.Glu1947Val)
c.5141A>T (p.Glu1714Val)
c.5888A>T (p.Glu1963Val)
dbSNP gnomAD v4
16g.3729153T>CCA394555060CREBBPc.5894A>G (p.Glu1965Gly)
c.5780A>G (p.Glu1927Gly)
c.5849A>G (p.Glu1950Gly)
c.5477A>G (p.Glu1826Gly)
c.5633A>G (p.Glu1878Gly)
c.5840A>G (p.Glu1947Gly)
c.5141A>G (p.Glu1714Gly)
c.5888A>G (p.Glu1963Gly)
dbSNP gnomAD v4
16g.3729153T>GCA394555061CREBBPc.5894A>C (p.Glu1965Ala)
c.5780A>C (p.Glu1927Ala)
c.5849A>C (p.Glu1950Ala)
c.5477A>C (p.Glu1826Ala)
c.5633A>C (p.Glu1878Ala)
c.5840A>C (p.Glu1947Ala)
c.5141A>C (p.Glu1714Ala)
c.5888A>C (p.Glu1963Ala)
16g.3729154C>ACA276971920CREBBPc.5893G>T (p.Glu1965Ter)
c.5779G>T (p.Glu1927Ter)
c.5848G>T (p.Glu1950Ter)
c.5476G>T (p.Glu1826Ter)
c.5632G>T (p.Glu1878Ter)
c.5839G>T (p.Glu1947Ter)
c.5140G>T (p.Glu1714Ter)
c.5887G>T (p.Glu1963Ter)
dbSNP gnomAD v4
16g.3729154C=CA2202916255CREBBPc.5893G= (p.Glu1965=)
c.5779G= (p.Glu1927=)
c.5848G= (p.Glu1950=)
c.5476G= (p.Glu1826=)
c.5632G= (p.Glu1878=)
c.5839G= (p.Glu1947=)
c.5140G= (p.Glu1714=)
c.5887G= (p.Glu1963=)
16g.3729154C>GCA394555062CREBBPc.5893G>C (p.Glu1965Gln)
c.5779G>C (p.Glu1927Gln)
c.5848G>C (p.Glu1950Gln)
c.5476G>C (p.Glu1826Gln)
c.5632G>C (p.Glu1878Gln)
c.5839G>C (p.Glu1947Gln)
c.5140G>C (p.Glu1714Gln)
c.5887G>C (p.Glu1963Gln)
dbSNP
16g.3729154C>TCA394555063CREBBPc.5893G>A (p.Glu1965Lys)
c.5779G>A (p.Glu1927Lys)
c.5848G>A (p.Glu1950Lys)
c.5476G>A (p.Glu1826Lys)
c.5632G>A (p.Glu1878Lys)
c.5839G>A (p.Glu1947Lys)
c.5140G>A (p.Glu1714Lys)
c.5887G>A (p.Glu1963Lys)
dbSNP gnomAD v2 gnomAD v4
16g.3729155A>CCA493393853CREBBPc.5892T>G (p.Arg1964=)
c.5778T>G (p.Arg1926=)
c.5847T>G (p.Arg1949=)
c.5475T>G (p.Arg1825=)
c.5631T>G (p.Arg1877=)
c.5838T>G (p.Arg1946=)
c.5139T>G (p.Arg1713=)
c.5886T>G (p.Arg1962=)
dbSNP gnomAD v4 COSMIC
16g.3729155A>GCA493393854CREBBPc.5892T>C (p.Arg1964=)
c.5778T>C (p.Arg1926=)
c.5847T>C (p.Arg1949=)
c.5475T>C (p.Arg1825=)
c.5631T>C (p.Arg1877=)
c.5838T>C (p.Arg1946=)
c.5139T>C (p.Arg1713=)
c.5886T>C (p.Arg1962=)
dbSNP gnomAD v4
16g.3729155A>TCA493393855CREBBPc.5892T>A (p.Arg1964=)
c.5778T>A (p.Arg1926=)
c.5847T>A (p.Arg1949=)
c.5475T>A (p.Arg1825=)
c.5631T>A (p.Arg1877=)
c.5838T>A (p.Arg1946=)
c.5139T>A (p.Arg1713=)
c.5886T>A (p.Arg1962=)
dbSNP
16g.3729156C>ACA394555064CREBBPc.5891G>T (p.Arg1964Leu)
c.5777G>T (p.Arg1926Leu)
c.5846G>T (p.Arg1949Leu)
c.5474G>T (p.Arg1825Leu)
c.5630G>T (p.Arg1877Leu)
c.5837G>T (p.Arg1946Leu)
c.5138G>T (p.Arg1713Leu)
c.5885G>T (p.Arg1962Leu)
ClinVar dbSNP gnomAD v4
16g.3729156C=CA2202916256CREBBPc.5891G= (p.Arg1964=)
c.5777G= (p.Arg1926=)
c.5846G= (p.Arg1949=)
c.5474G= (p.Arg1825=)
c.5630G= (p.Arg1877=)
c.5837G= (p.Arg1946=)
c.5138G= (p.Arg1713=)
c.5885G= (p.Arg1962=)
16g.3729156C>GCA394555065CREBBPc.5891G>C (p.Arg1964Pro)
c.5777G>C (p.Arg1926Pro)
c.5846G>C (p.Arg1949Pro)
c.5474G>C (p.Arg1825Pro)
c.5630G>C (p.Arg1877Pro)
c.5837G>C (p.Arg1946Pro)
c.5138G>C (p.Arg1713Pro)
c.5885G>C (p.Arg1962Pro)
dbSNP gnomAD v2 gnomAD v4
16g.3729156C>TCA276971924CREBBPc.5891G>A (p.Arg1964His)
c.5777G>A (p.Arg1926His)
c.5846G>A (p.Arg1949His)
c.5474G>A (p.Arg1825His)
c.5630G>A (p.Arg1877His)
c.5837G>A (p.Arg1946His)
c.5138G>A (p.Arg1713His)
c.5885G>A (p.Arg1962His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729157G>ACA394555066CREBBPc.5890C>T (p.Arg1964Cys)
c.5776C>T (p.Arg1926Cys)
c.5845C>T (p.Arg1949Cys)
c.5473C>T (p.Arg1825Cys)
c.5629C>T (p.Arg1877Cys)
c.5836C>T (p.Arg1946Cys)
c.5137C>T (p.Arg1713Cys)
c.5884C>T (p.Arg1962Cys)
dbSNP gnomAD v4
16g.3729157G>CCA394555067CREBBPc.5890C>G (p.Arg1964Gly)
c.5776C>G (p.Arg1926Gly)
c.5845C>G (p.Arg1949Gly)
c.5473C>G (p.Arg1825Gly)
c.5629C>G (p.Arg1877Gly)
c.5836C>G (p.Arg1946Gly)
c.5137C>G (p.Arg1713Gly)
c.5884C>G (p.Arg1962Gly)
dbSNP
16g.3729157G=CA2202916257CREBBPc.5890C= (p.Arg1964=)
c.5776C= (p.Arg1926=)
c.5845C= (p.Arg1949=)
c.5473C= (p.Arg1825=)
c.5629C= (p.Arg1877=)
c.5836C= (p.Arg1946=)
c.5137C= (p.Arg1713=)
c.5884C= (p.Arg1962=)
16g.3729157G>TCA394555068CREBBPc.5890C>A (p.Arg1964Ser)
c.5776C>A (p.Arg1926Ser)
c.5845C>A (p.Arg1949Ser)
c.5473C>A (p.Arg1825Ser)
c.5629C>A (p.Arg1877Ser)
c.5836C>A (p.Arg1946Ser)
c.5137C>A (p.Arg1713Ser)
c.5884C>A (p.Arg1962Ser)
gnomAD v4
16g.3729158C>ACA394555070CREBBPc.5889G>T (p.Glu1963Asp)
c.5775G>T (p.Glu1925Asp)
c.5844G>T (p.Glu1948Asp)
c.5472G>T (p.Glu1824Asp)
c.5628G>T (p.Glu1876Asp)
c.5835G>T (p.Glu1945Asp)
c.5136G>T (p.Glu1712Asp)
c.5883G>T (p.Glu1961Asp)
dbSNP
16g.3729158C>GCA394555072CREBBPc.5889G>C (p.Glu1963Asp)
c.5775G>C (p.Glu1925Asp)
c.5844G>C (p.Glu1948Asp)
c.5472G>C (p.Glu1824Asp)
c.5628G>C (p.Glu1876Asp)
c.5835G>C (p.Glu1945Asp)
c.5136G>C (p.Glu1712Asp)
c.5883G>C (p.Glu1961Asp)
dbSNP
16g.3729158C>TCA493393857CREBBPc.5889G>A (p.Glu1963=)
c.5775G>A (p.Glu1925=)
c.5844G>A (p.Glu1948=)
c.5472G>A (p.Glu1824=)
c.5628G>A (p.Glu1876=)
c.5835G>A (p.Glu1945=)
c.5136G>A (p.Glu1712=)
c.5883G>A (p.Glu1961=)
dbSNP gnomAD v4
16g.3729159T>ACA394555074CREBBPc.5888A>T (p.Glu1963Val)
c.5774A>T (p.Glu1925Val)
c.5843A>T (p.Glu1948Val)
c.5471A>T (p.Glu1824Val)
c.5627A>T (p.Glu1876Val)
c.5834A>T (p.Glu1945Val)
c.5135A>T (p.Glu1712Val)
c.5882A>T (p.Glu1961Val)
dbSNP
16g.3729159T>CCA394555075CREBBPc.5888A>G (p.Glu1963Gly)
c.5774A>G (p.Glu1925Gly)
c.5843A>G (p.Glu1948Gly)
c.5471A>G (p.Glu1824Gly)
c.5627A>G (p.Glu1876Gly)
c.5834A>G (p.Glu1945Gly)
c.5135A>G (p.Glu1712Gly)
c.5882A>G (p.Glu1961Gly)
dbSNP gnomAD v4 COSMIC
16g.3729159T>GCA394555077CREBBPc.5888A>C (p.Glu1963Ala)
c.5774A>C (p.Glu1925Ala)
c.5843A>C (p.Glu1948Ala)
c.5471A>C (p.Glu1824Ala)
c.5627A>C (p.Glu1876Ala)
c.5834A>C (p.Glu1945Ala)
c.5135A>C (p.Glu1712Ala)
c.5882A>C (p.Glu1961Ala)
16g.3729160C>ACA394555080CREBBPc.5887G>T (p.Glu1963Ter)
c.5773G>T (p.Glu1925Ter)
c.5842G>T (p.Glu1948Ter)
c.5470G>T (p.Glu1824Ter)
c.5626G>T (p.Glu1876Ter)
c.5833G>T (p.Glu1945Ter)
c.5134G>T (p.Glu1712Ter)
c.5881G>T (p.Glu1961Ter)
dbSNP gnomAD v2 gnomAD v4
16g.3729160C=CA2202916258CREBBPc.5887G= (p.Glu1963=)
c.5773G= (p.Glu1925=)
c.5842G= (p.Glu1948=)
c.5470G= (p.Glu1824=)
c.5626G= (p.Glu1876=)
c.5833G= (p.Glu1945=)
c.5134G= (p.Glu1712=)
c.5881G= (p.Glu1961=)
16g.3729160C>GCA394555081CREBBPc.5887G>C (p.Glu1963Gln)
c.5773G>C (p.Glu1925Gln)
c.5842G>C (p.Glu1948Gln)
c.5470G>C (p.Glu1824Gln)
c.5626G>C (p.Glu1876Gln)
c.5833G>C (p.Glu1945Gln)
c.5134G>C (p.Glu1712Gln)
c.5881G>C (p.Glu1961Gln)
dbSNP gnomAD v4
16g.3729160C>TCA276971926CREBBPc.5887G>A (p.Glu1963Lys)
c.5773G>A (p.Glu1925Lys)
c.5842G>A (p.Glu1948Lys)
c.5470G>A (p.Glu1824Lys)
c.5626G>A (p.Glu1876Lys)
c.5833G>A (p.Glu1945Lys)
c.5134G>A (p.Glu1712Lys)
c.5881G>A (p.Glu1961Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729161G>ACA7869232CREBBPc.5886C>T (p.Ile1962=)
c.5772C>T (p.Ile1924=)
c.5841C>T (p.Ile1947=)
c.5469C>T (p.Ile1823=)
c.5625C>T (p.Ile1875=)
c.5832C>T (p.Ile1944=)
c.5133C>T (p.Ile1711=)
c.5880C>T (p.Ile1960=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729161G>CCA394555085CREBBPc.5886C>G (p.Ile1962Met)
c.5772C>G (p.Ile1924Met)
c.5841C>G (p.Ile1947Met)
c.5469C>G (p.Ile1823Met)
c.5625C>G (p.Ile1875Met)
c.5832C>G (p.Ile1944Met)
c.5133C>G (p.Ile1711Met)
c.5880C>G (p.Ile1960Met)
dbSNP
16g.3729161G=CA2202916259CREBBPc.5886C= (p.Ile1962=)
c.5772C= (p.Ile1924=)
c.5841C= (p.Ile1947=)
c.5469C= (p.Ile1823=)
c.5625C= (p.Ile1875=)
c.5832C= (p.Ile1944=)
c.5133C= (p.Ile1711=)
c.5880C= (p.Ile1960=)
16g.3729161G>TCA493393860CREBBPc.5886C>A (p.Ile1962=)
c.5772C>A (p.Ile1924=)
c.5841C>A (p.Ile1947=)
c.5469C>A (p.Ile1823=)
c.5625C>A (p.Ile1875=)
c.5832C>A (p.Ile1944=)
c.5133C>A (p.Ile1711=)
c.5880C>A (p.Ile1960=)
ClinVar dbSNP gnomAD v4
16g.3729162A>CCA394555091CREBBPc.5885T>G (p.Ile1962Ser)
c.5771T>G (p.Ile1924Ser)
c.5840T>G (p.Ile1947Ser)
c.5468T>G (p.Ile1823Ser)
c.5624T>G (p.Ile1875Ser)
c.5831T>G (p.Ile1944Ser)
c.5132T>G (p.Ile1711Ser)
c.5879T>G (p.Ile1960Ser)
dbSNP
16g.3729162A>GCA394555089CREBBPc.5885T>C (p.Ile1962Thr)
c.5771T>C (p.Ile1924Thr)
c.5840T>C (p.Ile1947Thr)
c.5468T>C (p.Ile1823Thr)
c.5624T>C (p.Ile1875Thr)
c.5831T>C (p.Ile1944Thr)
c.5132T>C (p.Ile1711Thr)
c.5879T>C (p.Ile1960Thr)
dbSNP
16g.3729162A>TCA394555088CREBBPc.5885T>A (p.Ile1962Asn)
c.5771T>A (p.Ile1924Asn)
c.5840T>A (p.Ile1947Asn)
c.5468T>A (p.Ile1823Asn)
c.5624T>A (p.Ile1875Asn)
c.5831T>A (p.Ile1944Asn)
c.5132T>A (p.Ile1711Asn)
c.5879T>A (p.Ile1960Asn)
dbSNP gnomAD v4
16g.3729163T>ACA394555093CREBBPc.5884A>T (p.Ile1962Phe)
c.5770A>T (p.Ile1924Phe)
c.5839A>T (p.Ile1947Phe)
c.5467A>T (p.Ile1823Phe)
c.5623A>T (p.Ile1875Phe)
c.5830A>T (p.Ile1944Phe)
c.5131A>T (p.Ile1711Phe)
c.5878A>T (p.Ile1960Phe)
dbSNP gnomAD v4
16g.3729163T>CCA394555095CREBBPc.5884A>G (p.Ile1962Val)
c.5770A>G (p.Ile1924Val)
c.5839A>G (p.Ile1947Val)
c.5467A>G (p.Ile1823Val)
c.5623A>G (p.Ile1875Val)
c.5830A>G (p.Ile1944Val)
c.5131A>G (p.Ile1711Val)
c.5878A>G (p.Ile1960Val)
dbSNP gnomAD v4
16g.3729163T>GCA394555097CREBBPc.5884A>C (p.Ile1962Leu)
c.5770A>C (p.Ile1924Leu)
c.5839A>C (p.Ile1947Leu)
c.5467A>C (p.Ile1823Leu)
c.5623A>C (p.Ile1875Leu)
c.5830A>C (p.Ile1944Leu)
c.5131A>C (p.Ile1711Leu)
c.5878A>C (p.Ile1960Leu)
dbSNP
16g.3729164C>ACA394555099CREBBPc.5883G>T (p.Gln1961His)
c.5769G>T (p.Gln1923His)
c.5838G>T (p.Gln1946His)
c.5466G>T (p.Gln1822His)
c.5622G>T (p.Gln1874His)
c.5829G>T (p.Gln1943His)
c.5130G>T (p.Gln1710His)
c.5877G>T (p.Gln1959His)
dbSNP gnomAD v4
16g.3729164C=CA2202916260CREBBPc.5883G= (p.Gln1961=)
c.5769G= (p.Gln1923=)
c.5838G= (p.Gln1946=)
c.5466G= (p.Gln1822=)
c.5622G= (p.Gln1874=)
c.5829G= (p.Gln1943=)
c.5130G= (p.Gln1710=)
c.5877G= (p.Gln1959=)
16g.3729164C>GCA394555101CREBBPc.5883G>C (p.Gln1961His)
c.5769G>C (p.Gln1923His)
c.5838G>C (p.Gln1946His)
c.5466G>C (p.Gln1822His)
c.5622G>C (p.Gln1874His)
c.5829G>C (p.Gln1943His)
c.5130G>C (p.Gln1710His)
c.5877G>C (p.Gln1959His)
dbSNP
16g.3729164C>TCA493393861CREBBPc.5883G>A (p.Gln1961=)
c.5769G>A (p.Gln1923=)
c.5838G>A (p.Gln1946=)
c.5466G>A (p.Gln1822=)
c.5622G>A (p.Gln1874=)
c.5829G>A (p.Gln1943=)
c.5130G>A (p.Gln1710=)
c.5877G>A (p.Gln1959=)
dbSNP gnomAD v4
16g.3729165T>ACA394555103CREBBPc.5882A>T (p.Gln1961Leu)
c.5768A>T (p.Gln1923Leu)
c.5837A>T (p.Gln1946Leu)
c.5465A>T (p.Gln1822Leu)
c.5621A>T (p.Gln1874Leu)
c.5828A>T (p.Gln1943Leu)
c.5129A>T (p.Gln1710Leu)
c.5876A>T (p.Gln1959Leu)
dbSNP
16g.3729165T>CCA394555104CREBBPc.5882A>G (p.Gln1961Arg)
c.5768A>G (p.Gln1923Arg)
c.5837A>G (p.Gln1946Arg)
c.5465A>G (p.Gln1822Arg)
c.5621A>G (p.Gln1874Arg)
c.5828A>G (p.Gln1943Arg)
c.5129A>G (p.Gln1710Arg)
c.5876A>G (p.Gln1959Arg)
dbSNP
16g.3729165T>GCA394555106CREBBPc.5882A>C (p.Gln1961Pro)
c.5768A>C (p.Gln1923Pro)
c.5837A>C (p.Gln1946Pro)
c.5465A>C (p.Gln1822Pro)
c.5621A>C (p.Gln1874Pro)
c.5828A>C (p.Gln1943Pro)
c.5129A>C (p.Gln1710Pro)
c.5876A>C (p.Gln1959Pro)
16g.3729166G>ACA394555108CREBBPc.5881C>T (p.Gln1961Ter)
c.5767C>T (p.Gln1923Ter)
c.5836C>T (p.Gln1946Ter)
c.5464C>T (p.Gln1822Ter)
c.5620C>T (p.Gln1874Ter)
c.5827C>T (p.Gln1943Ter)
c.5128C>T (p.Gln1710Ter)
c.5875C>T (p.Gln1959Ter)
dbSNP gnomAD v4
16g.3729166G>CCA394555110CREBBPc.5881C>G (p.Gln1961Glu)
c.5767C>G (p.Gln1923Glu)
c.5836C>G (p.Gln1946Glu)
c.5464C>G (p.Gln1822Glu)
c.5620C>G (p.Gln1874Glu)
c.5827C>G (p.Gln1943Glu)
c.5128C>G (p.Gln1710Glu)
c.5875C>G (p.Gln1959Glu)
dbSNP
16g.3729166G>TCA394555111CREBBPc.5881C>A (p.Gln1961Lys)
c.5767C>A (p.Gln1923Lys)
c.5836C>A (p.Gln1946Lys)
c.5464C>A (p.Gln1822Lys)
c.5620C>A (p.Gln1874Lys)
c.5827C>A (p.Gln1943Lys)
c.5128C>A (p.Gln1710Lys)
c.5875C>A (p.Gln1959Lys)
gnomAD v4
16g.3729170_3729174delCA2695222622CREBBPc.5877_5881del (p.Arg1960AspfsTer4)
c.5763_5767del (p.Arg1922AspfsTer4)
c.5832_5836del (p.Arg1945AspfsTer4)
c.5460_5464del (p.Arg1821AspfsTer4)
c.5616_5620del (p.Arg1873AspfsTer4)
c.5823_5827del (p.Arg1942AspfsTer4)
c.5124_5128del (p.Arg1709AspfsTer4)
c.5871_5875del (p.Arg1958AspfsTer4)
16g.3729167C>ACA493393862CREBBPc.5880G>T (p.Arg1960=)
c.5766G>T (p.Arg1922=)
c.5835G>T (p.Arg1945=)
c.5463G>T (p.Arg1821=)
c.5619G>T (p.Arg1873=)
c.5826G>T (p.Arg1942=)
c.5127G>T (p.Arg1709=)
c.5874G>T (p.Arg1958=)
dbSNP gnomAD v4
16g.3729167C=CA2202916261CREBBPc.5880G= (p.Arg1960=)
c.5766G= (p.Arg1922=)
c.5835G= (p.Arg1945=)
c.5463G= (p.Arg1821=)
c.5619G= (p.Arg1873=)
c.5826G= (p.Arg1942=)
c.5127G= (p.Arg1709=)
c.5874G= (p.Arg1958=)
16g.3729167C>GCA493393863CREBBPc.5880G>C (p.Arg1960=)
c.5766G>C (p.Arg1922=)
c.5835G>C (p.Arg1945=)
c.5463G>C (p.Arg1821=)
c.5619G>C (p.Arg1873=)
c.5826G>C (p.Arg1942=)
c.5127G>C (p.Arg1709=)
c.5874G>C (p.Arg1958=)
dbSNP
16g.3729167C>TCA276971935CREBBPc.5880G>A (p.Arg1960=)
c.5766G>A (p.Arg1922=)
c.5835G>A (p.Arg1945=)
c.5463G>A (p.Arg1821=)
c.5619G>A (p.Arg1873=)
c.5826G>A (p.Arg1942=)
c.5127G>A (p.Arg1709=)
c.5874G>A (p.Arg1958=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729168C>ACA394555112CREBBPc.5879G>T (p.Arg1960Leu)
c.5765G>T (p.Arg1922Leu)
c.5834G>T (p.Arg1945Leu)
c.5462G>T (p.Arg1821Leu)
c.5618G>T (p.Arg1873Leu)
c.5825G>T (p.Arg1942Leu)
c.5126G>T (p.Arg1709Leu)
c.5873G>T (p.Arg1958Leu)
dbSNP gnomAD v4
16g.3729168C=CA2202916262CREBBPc.5879G= (p.Arg1960=)
c.5765G= (p.Arg1922=)
c.5834G= (p.Arg1945=)
c.5462G= (p.Arg1821=)
c.5618G= (p.Arg1873=)
c.5825G= (p.Arg1942=)
c.5126G= (p.Arg1709=)
c.5873G= (p.Arg1958=)
16g.3729168C>GCA394555114CREBBPc.5879G>C (p.Arg1960Pro)
c.5765G>C (p.Arg1922Pro)
c.5834G>C (p.Arg1945Pro)
c.5462G>C (p.Arg1821Pro)
c.5618G>C (p.Arg1873Pro)
c.5825G>C (p.Arg1942Pro)
c.5126G>C (p.Arg1709Pro)
c.5873G>C (p.Arg1958Pro)
dbSNP gnomAD v2 gnomAD v4
16g.3729168C>TCA7869233CREBBPc.5879G>A (p.Arg1960Gln)
c.5765G>A (p.Arg1922Gln)
c.5834G>A (p.Arg1945Gln)
c.5462G>A (p.Arg1821Gln)
c.5618G>A (p.Arg1873Gln)
c.5825G>A (p.Arg1942Gln)
c.5126G>A (p.Arg1709Gln)
c.5873G>A (p.Arg1958Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729169G>ACA394555117CREBBPc.5878C>T (p.Arg1960Trp)
c.5764C>T (p.Arg1922Trp)
c.5833C>T (p.Arg1945Trp)
c.5461C>T (p.Arg1821Trp)
c.5617C>T (p.Arg1873Trp)
c.5824C>T (p.Arg1942Trp)
c.5125C>T (p.Arg1709Trp)
c.5872C>T (p.Arg1958Trp)
dbSNP gnomAD v2 gnomAD v4
16g.3729169G>CCA394555119CREBBPc.5878C>G (p.Arg1960Gly)
c.5764C>G (p.Arg1922Gly)
c.5833C>G (p.Arg1945Gly)
c.5461C>G (p.Arg1821Gly)
c.5617C>G (p.Arg1873Gly)
c.5824C>G (p.Arg1942Gly)
c.5125C>G (p.Arg1709Gly)
c.5872C>G (p.Arg1958Gly)
dbSNP gnomAD v3 gnomAD v4
16g.3729169G=CA2202916263CREBBPc.5878C= (p.Arg1960=)
c.5764C= (p.Arg1922=)
c.5833C= (p.Arg1945=)
c.5461C= (p.Arg1821=)
c.5617C= (p.Arg1873=)
c.5824C= (p.Arg1942=)
c.5125C= (p.Arg1709=)
c.5872C= (p.Arg1958=)
16g.3729169G>TCA7869234CREBBPc.5878C>A (p.Arg1960=)
c.5764C>A (p.Arg1922=)
c.5833C>A (p.Arg1945=)
c.5461C>A (p.Arg1821=)
c.5617C>A (p.Arg1873=)
c.5824C>A (p.Arg1942=)
c.5125C>A (p.Arg1709=)
c.5872C>A (p.Arg1958=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729170A=CA2202916264CREBBPc.5877T= (p.Ala1959=)
c.5763T= (p.Ala1921=)
c.5832T= (p.Ala1944=)
c.5460T= (p.Ala1820=)
c.5616T= (p.Ala1872=)
c.5823T= (p.Ala1941=)
c.5124T= (p.Ala1708=)
c.5871T= (p.Ala1957=)
16g.3729170A>CCA493393865CREBBPc.5877T>G (p.Ala1959=)
c.5763T>G (p.Ala1921=)
c.5832T>G (p.Ala1944=)
c.5460T>G (p.Ala1820=)
c.5616T>G (p.Ala1872=)
c.5823T>G (p.Ala1941=)
c.5124T>G (p.Ala1708=)
c.5871T>G (p.Ala1957=)
dbSNP
16g.3729170A>GCA493393866CREBBPc.5877T>C (p.Ala1959=)
c.5763T>C (p.Ala1921=)
c.5832T>C (p.Ala1944=)
c.5460T>C (p.Ala1820=)
c.5616T>C (p.Ala1872=)
c.5823T>C (p.Ala1941=)
c.5124T>C (p.Ala1708=)
c.5871T>C (p.Ala1957=)
dbSNP gnomAD v2 gnomAD v4
16g.3729170A>TCA493393867CREBBPc.5877T>A (p.Ala1959=)
c.5763T>A (p.Ala1921=)
c.5832T>A (p.Ala1944=)
c.5460T>A (p.Ala1820=)
c.5616T>A (p.Ala1872=)
c.5823T>A (p.Ala1941=)
c.5124T>A (p.Ala1708=)
c.5871T>A (p.Ala1957=)
dbSNP
16g.3729171G>ACA394555120CREBBPc.5876C>T (p.Ala1959Val)
c.5762C>T (p.Ala1921Val)
c.5831C>T (p.Ala1944Val)
c.5459C>T (p.Ala1820Val)
c.5615C>T (p.Ala1872Val)
c.5822C>T (p.Ala1941Val)
c.5123C>T (p.Ala1708Val)
c.5870C>T (p.Ala1957Val)
dbSNP gnomAD v4
16g.3729171G>CCA394555122CREBBPc.5876C>G (p.Ala1959Gly)
c.5762C>G (p.Ala1921Gly)
c.5831C>G (p.Ala1944Gly)
c.5459C>G (p.Ala1820Gly)
c.5615C>G (p.Ala1872Gly)
c.5822C>G (p.Ala1941Gly)
c.5123C>G (p.Ala1708Gly)
c.5870C>G (p.Ala1957Gly)
16g.3729171G>TCA394555124CREBBPc.5876C>A (p.Ala1959Asp)
c.5762C>A (p.Ala1921Asp)
c.5831C>A (p.Ala1944Asp)
c.5459C>A (p.Ala1820Asp)
c.5615C>A (p.Ala1872Asp)
c.5822C>A (p.Ala1941Asp)
c.5123C>A (p.Ala1708Asp)
c.5870C>A (p.Ala1957Asp)
gnomAD v4
16g.3729172C>ACA394555126CREBBPc.5875G>T (p.Ala1959Ser)
c.5761G>T (p.Ala1921Ser)
c.5830G>T (p.Ala1944Ser)
c.5458G>T (p.Ala1820Ser)
c.5614G>T (p.Ala1872Ser)
c.5821G>T (p.Ala1941Ser)
c.5122G>T (p.Ala1708Ser)
c.5869G>T (p.Ala1957Ser)
ClinVar dbSNP gnomAD v4
16g.3729172C>GCA394555128CREBBPc.5875G>C (p.Ala1959Pro)
c.5761G>C (p.Ala1921Pro)
c.5830G>C (p.Ala1944Pro)
c.5458G>C (p.Ala1820Pro)
c.5614G>C (p.Ala1872Pro)
c.5821G>C (p.Ala1941Pro)
c.5122G>C (p.Ala1708Pro)
c.5869G>C (p.Ala1957Pro)
dbSNP
16g.3729172C>TCA394555129CREBBPc.5875G>A (p.Ala1959Thr)
c.5761G>A (p.Ala1921Thr)
c.5830G>A (p.Ala1944Thr)
c.5458G>A (p.Ala1820Thr)
c.5614G>A (p.Ala1872Thr)
c.5821G>A (p.Ala1941Thr)
c.5122G>A (p.Ala1708Thr)
c.5869G>A (p.Ala1957Thr)
dbSNP gnomAD v4
16g.3729173C>ACA493393868CREBBPc.5874G>T (p.Ala1958=)
c.5760G>T (p.Ala1920=)
c.5829G>T (p.Ala1943=)
c.5457G>T (p.Ala1819=)
c.5613G>T (p.Ala1871=)
c.5820G>T (p.Ala1940=)
c.5121G>T (p.Ala1707=)
c.5868G>T (p.Ala1956=)
gnomAD v4
16g.3729173C=CA2202916265CREBBPc.5874G= (p.Ala1958=)
c.5760G= (p.Ala1920=)
c.5829G= (p.Ala1943=)
c.5457G= (p.Ala1819=)
c.5613G= (p.Ala1871=)
c.5820G= (p.Ala1940=)
c.5121G= (p.Ala1707=)
c.5868G= (p.Ala1956=)
16g.3729173C>GCA7869235CREBBPc.5874G>C (p.Ala1958=)
c.5760G>C (p.Ala1920=)
c.5829G>C (p.Ala1943=)
c.5457G>C (p.Ala1819=)
c.5613G>C (p.Ala1871=)
c.5820G>C (p.Ala1940=)
c.5121G>C (p.Ala1707=)
c.5868G>C (p.Ala1956=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729173C>TCA276971948CREBBPc.5874G>A (p.Ala1958=)
c.5760G>A (p.Ala1920=)
c.5829G>A (p.Ala1943=)
c.5457G>A (p.Ala1819=)
c.5613G>A (p.Ala1871=)
c.5820G>A (p.Ala1940=)
c.5121G>A (p.Ala1707=)
c.5868G>A (p.Ala1956=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729174G>ACA276971959CREBBPc.5873C>T (p.Ala1958Val)
c.5759C>T (p.Ala1920Val)
c.5828C>T (p.Ala1943Val)
c.5456C>T (p.Ala1819Val)
c.5612C>T (p.Ala1871Val)
c.5819C>T (p.Ala1940Val)
c.5120C>T (p.Ala1707Val)
c.5867C>T (p.Ala1956Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729174G>CCA394555134CREBBPc.5873C>G (p.Ala1958Gly)
c.5759C>G (p.Ala1920Gly)
c.5828C>G (p.Ala1943Gly)
c.5456C>G (p.Ala1819Gly)
c.5612C>G (p.Ala1871Gly)
c.5819C>G (p.Ala1940Gly)
c.5120C>G (p.Ala1707Gly)
c.5867C>G (p.Ala1956Gly)
dbSNP gnomAD v4
16g.3729174G=CA2202916266CREBBPc.5873C= (p.Ala1958=)
c.5759C= (p.Ala1920=)
c.5828C= (p.Ala1943=)
c.5456C= (p.Ala1819=)
c.5612C= (p.Ala1871=)
c.5819C= (p.Ala1940=)
c.5120C= (p.Ala1707=)
c.5867C= (p.Ala1956=)
16g.3729174G>TCA394555136CREBBPc.5873C>A (p.Ala1958Glu)
c.5759C>A (p.Ala1920Glu)
c.5828C>A (p.Ala1943Glu)
c.5456C>A (p.Ala1819Glu)
c.5612C>A (p.Ala1871Glu)
c.5819C>A (p.Ala1940Glu)
c.5120C>A (p.Ala1707Glu)
c.5867C>A (p.Ala1956Glu)
dbSNP gnomAD v4
16g.3729175C>ACA394555138CREBBPc.5872G>T (p.Ala1958Ser)
c.5758G>T (p.Ala1920Ser)
c.5827G>T (p.Ala1943Ser)
c.5455G>T (p.Ala1819Ser)
c.5611G>T (p.Ala1871Ser)
c.5818G>T (p.Ala1940Ser)
c.5119G>T (p.Ala1707Ser)
c.5866G>T (p.Ala1956Ser)
16g.3729175C>GCA394555140CREBBPc.5872G>C (p.Ala1958Pro)
c.5758G>C (p.Ala1920Pro)
c.5827G>C (p.Ala1943Pro)
c.5455G>C (p.Ala1819Pro)
c.5611G>C (p.Ala1871Pro)
c.5818G>C (p.Ala1940Pro)
c.5119G>C (p.Ala1707Pro)
c.5866G>C (p.Ala1956Pro)
dbSNP
16g.3729175C>TCA394555142CREBBPc.5872G>A (p.Ala1958Thr)
c.5758G>A (p.Ala1920Thr)
c.5827G>A (p.Ala1943Thr)
c.5455G>A (p.Ala1819Thr)
c.5611G>A (p.Ala1871Thr)
c.5818G>A (p.Ala1940Thr)
c.5119G>A (p.Ala1707Thr)
c.5866G>A (p.Ala1956Thr)
dbSNP
16g.3729176T>ACA394555146CREBBPc.5871A>T (p.Glu1957Asp)
c.5757A>T (p.Glu1919Asp)
c.5826A>T (p.Glu1942Asp)
c.5454A>T (p.Glu1818Asp)
c.5610A>T (p.Glu1870Asp)
c.5817A>T (p.Glu1939Asp)
c.5118A>T (p.Glu1706Asp)
c.5865A>T (p.Glu1955Asp)
dbSNP
16g.3729176T>CCA493393869CREBBPc.5871A>G (p.Glu1957=)
c.5757A>G (p.Glu1919=)
c.5826A>G (p.Glu1942=)
c.5454A>G (p.Glu1818=)
c.5610A>G (p.Glu1870=)
c.5817A>G (p.Glu1939=)
c.5118A>G (p.Glu1706=)
c.5865A>G (p.Glu1955=)
dbSNP
16g.3729176T>GCA394555144CREBBPc.5871A>C (p.Glu1957Asp)
c.5757A>C (p.Glu1919Asp)
c.5826A>C (p.Glu1942Asp)
c.5454A>C (p.Glu1818Asp)
c.5610A>C (p.Glu1870Asp)
c.5817A>C (p.Glu1939Asp)
c.5118A>C (p.Glu1706Asp)
c.5865A>C (p.Glu1955Asp)
dbSNP
16g.3729177T>ACA394555148CREBBPc.5870A>T (p.Glu1957Val)
c.5756A>T (p.Glu1919Val)
c.5825A>T (p.Glu1942Val)
c.5453A>T (p.Glu1818Val)
c.5609A>T (p.Glu1870Val)
c.5816A>T (p.Glu1939Val)
c.5117A>T (p.Glu1706Val)
c.5864A>T (p.Glu1955Val)
16g.3729177T>CCA394555150CREBBPc.5870A>G (p.Glu1957Gly)
c.5756A>G (p.Glu1919Gly)
c.5825A>G (p.Glu1942Gly)
c.5453A>G (p.Glu1818Gly)
c.5609A>G (p.Glu1870Gly)
c.5816A>G (p.Glu1939Gly)
c.5117A>G (p.Glu1706Gly)
c.5864A>G (p.Glu1955Gly)
16g.3729177T>GCA394555152CREBBPc.5870A>C (p.Glu1957Ala)
c.5756A>C (p.Glu1919Ala)
c.5825A>C (p.Glu1942Ala)
c.5453A>C (p.Glu1818Ala)
c.5609A>C (p.Glu1870Ala)
c.5816A>C (p.Glu1939Ala)
c.5117A>C (p.Glu1706Ala)
c.5864A>C (p.Glu1955Ala)
16g.3729177_3729178delinsTCCA2202916267CREBBPc.5869_5870delinsGA (p.Glu1957=)
c.5755_5756delinsGA (p.Glu1919=)
c.5824_5825delinsGA (p.Glu1942=)
c.5452_5453delinsGA (p.Glu1818=)
c.5608_5609delinsGA (p.Glu1870=)
c.5815_5816delinsGA (p.Glu1939=)
c.5116_5117delinsGA (p.Glu1706=)
c.5863_5864delinsGA (p.Glu1955=)
16g.3729178C>ACA394555155CREBBPc.5869G>T (p.Glu1957Ter)
c.5755G>T (p.Glu1919Ter)
c.5824G>T (p.Glu1942Ter)
c.5452G>T (p.Glu1818Ter)
c.5608G>T (p.Glu1870Ter)
c.5815G>T (p.Glu1939Ter)
c.5116G>T (p.Glu1706Ter)
c.5863G>T (p.Glu1955Ter)
dbSNP gnomAD v4
16g.3729178C>GCA394555156CREBBPc.5869G>C (p.Glu1957Gln)
c.5755G>C (p.Glu1919Gln)
c.5824G>C (p.Glu1942Gln)
c.5452G>C (p.Glu1818Gln)
c.5608G>C (p.Glu1870Gln)
c.5815G>C (p.Glu1939Gln)
c.5116G>C (p.Glu1706Gln)
c.5863G>C (p.Glu1955Gln)
dbSNP
16g.3729178C>TCA394555158CREBBPc.5869G>A (p.Glu1957Lys)
c.5755G>A (p.Glu1919Lys)
c.5824G>A (p.Glu1942Lys)
c.5452G>A (p.Glu1818Lys)
c.5608G>A (p.Glu1870Lys)
c.5815G>A (p.Glu1939Lys)
c.5116G>A (p.Glu1706Lys)
c.5863G>A (p.Glu1955Lys)
dbSNP
16g.3729179delCA271433CREBBPc.5869del (p.Glu1957LysfsTer19)
c.5755del (p.Glu1919LysfsTer19)
c.5824del (p.Glu1942LysfsTer19)
c.5452del (p.Glu1818LysfsTer19)
c.5608del (p.Glu1870LysfsTer19)
c.5815del (p.Glu1939LysfsTer19)
c.5116del (p.Glu1706LysfsTer19)
c.5863del (p.Glu1955LysfsTer19)
ClinVar dbSNP
16g.3729179C>ACA493393873CREBBPc.5868G>T (p.Val1956=)
c.5754G>T (p.Val1918=)
c.5823G>T (p.Val1941=)
c.5451G>T (p.Val1817=)
c.5607G>T (p.Val1869=)
c.5814G>T (p.Val1938=)
c.5115G>T (p.Val1705=)
c.5862G>T (p.Val1954=)
gnomAD v4
16g.3729179C>GCA493393874CREBBPc.5868G>C (p.Val1956=)
c.5754G>C (p.Val1918=)
c.5823G>C (p.Val1941=)
c.5451G>C (p.Val1817=)
c.5607G>C (p.Val1869=)
c.5814G>C (p.Val1938=)
c.5115G>C (p.Val1705=)
c.5862G>C (p.Val1954=)
dbSNP
16g.3729179C>TCA493393875CREBBPc.5868G>A (p.Val1956=)
c.5754G>A (p.Val1918=)
c.5823G>A (p.Val1941=)
c.5451G>A (p.Val1817=)
c.5607G>A (p.Val1869=)
c.5814G>A (p.Val1938=)
c.5115G>A (p.Val1705=)
c.5862G>A (p.Val1954=)
dbSNP gnomAD v4
16g.3729180A>CCA394555161CREBBPc.5867T>G (p.Val1956Gly)
c.5753T>G (p.Val1918Gly)
c.5822T>G (p.Val1941Gly)
c.5450T>G (p.Val1817Gly)
c.5606T>G (p.Val1869Gly)
c.5813T>G (p.Val1938Gly)
c.5114T>G (p.Val1705Gly)
c.5861T>G (p.Val1954Gly)
dbSNP gnomAD v4
16g.3729180A>GCA394555163CREBBPc.5867T>C (p.Val1956Ala)
c.5753T>C (p.Val1918Ala)
c.5822T>C (p.Val1941Ala)
c.5450T>C (p.Val1817Ala)
c.5606T>C (p.Val1869Ala)
c.5813T>C (p.Val1938Ala)
c.5114T>C (p.Val1705Ala)
c.5861T>C (p.Val1954Ala)
dbSNP
16g.3729180A>TCA394555164CREBBPc.5867T>A (p.Val1956Glu)
c.5753T>A (p.Val1918Glu)
c.5822T>A (p.Val1941Glu)
c.5450T>A (p.Val1817Glu)
c.5606T>A (p.Val1869Glu)
c.5813T>A (p.Val1938Glu)
c.5114T>A (p.Val1705Glu)
c.5861T>A (p.Val1954Glu)
dbSNP
16g.3729181C>ACA394555165CREBBPc.5866G>T (p.Val1956Leu)
c.5752G>T (p.Val1918Leu)
c.5821G>T (p.Val1941Leu)
c.5449G>T (p.Val1817Leu)
c.5605G>T (p.Val1869Leu)
c.5812G>T (p.Val1938Leu)
c.5113G>T (p.Val1705Leu)
c.5860G>T (p.Val1954Leu)
gnomAD v4
16g.3729181C>GCA394555167CREBBPc.5866G>C (p.Val1956Leu)
c.5752G>C (p.Val1918Leu)
c.5821G>C (p.Val1941Leu)
c.5449G>C (p.Val1817Leu)
c.5605G>C (p.Val1869Leu)
c.5812G>C (p.Val1938Leu)
c.5113G>C (p.Val1705Leu)
c.5860G>C (p.Val1954Leu)
16g.3729181C>TCA394555169CREBBPc.5866G>A (p.Val1956Met)
c.5752G>A (p.Val1918Met)
c.5821G>A (p.Val1941Met)
c.5449G>A (p.Val1817Met)
c.5605G>A (p.Val1869Met)
c.5812G>A (p.Val1938Met)
c.5113G>A (p.Val1705Met)
c.5860G>A (p.Val1954Met)
dbSNP
16g.3729182C>ACA493393877CREBBPc.5865G>T (p.Ala1955=)
c.5751G>T (p.Ala1917=)
c.5820G>T (p.Ala1940=)
c.5448G>T (p.Ala1816=)
c.5604G>T (p.Ala1868=)
c.5811G>T (p.Ala1937=)
c.5112G>T (p.Ala1704=)
c.5859G>T (p.Ala1953=)
gnomAD v4
16g.3729182C=CA2202916268CREBBPc.5865G= (p.Ala1955=)
c.5751G= (p.Ala1917=)
c.5820G= (p.Ala1940=)
c.5448G= (p.Ala1816=)
c.5604G= (p.Ala1868=)
c.5811G= (p.Ala1937=)
c.5112G= (p.Ala1704=)
c.5859G= (p.Ala1953=)
16g.3729182C>GCA493393878CREBBPc.5865G>C (p.Ala1955=)
c.5751G>C (p.Ala1917=)
c.5820G>C (p.Ala1940=)
c.5448G>C (p.Ala1816=)
c.5604G>C (p.Ala1868=)
c.5811G>C (p.Ala1937=)
c.5112G>C (p.Ala1704=)
c.5859G>C (p.Ala1953=)
dbSNP gnomAD v2 gnomAD v4
16g.3729182C>TCA7869236CREBBPc.5865G>A (p.Ala1955=)
c.5751G>A (p.Ala1917=)
c.5820G>A (p.Ala1940=)
c.5448G>A (p.Ala1816=)
c.5604G>A (p.Ala1868=)
c.5811G>A (p.Ala1937=)
c.5112G>A (p.Ala1704=)
c.5859G>A (p.Ala1953=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729183G>ACA394555174CREBBPc.5864C>T (p.Ala1955Val)
c.5750C>T (p.Ala1917Val)
c.5819C>T (p.Ala1940Val)
c.5447C>T (p.Ala1816Val)
c.5603C>T (p.Ala1868Val)
c.5810C>T (p.Ala1937Val)
c.5111C>T (p.Ala1704Val)
c.5858C>T (p.Ala1953Val)
dbSNP gnomAD v4
16g.3729183G>CCA394555173CREBBPc.5864C>G (p.Ala1955Gly)
c.5750C>G (p.Ala1917Gly)
c.5819C>G (p.Ala1940Gly)
c.5447C>G (p.Ala1816Gly)
c.5603C>G (p.Ala1868Gly)
c.5810C>G (p.Ala1937Gly)
c.5111C>G (p.Ala1704Gly)
c.5858C>G (p.Ala1953Gly)
dbSNP
16g.3729183G>TCA394555176CREBBPc.5864C>A (p.Ala1955Glu)
c.5750C>A (p.Ala1917Glu)
c.5819C>A (p.Ala1940Glu)
c.5447C>A (p.Ala1816Glu)
c.5603C>A (p.Ala1868Glu)
c.5810C>A (p.Ala1937Glu)
c.5111C>A (p.Ala1704Glu)
c.5858C>A (p.Ala1953Glu)
gnomAD v4
16g.3729184C>ACA394555178CREBBPc.5863G>T (p.Ala1955Ser)
c.5749G>T (p.Ala1917Ser)
c.5818G>T (p.Ala1940Ser)
c.5446G>T (p.Ala1816Ser)
c.5602G>T (p.Ala1868Ser)
c.5809G>T (p.Ala1937Ser)
c.5110G>T (p.Ala1704Ser)
c.5857G>T (p.Ala1953Ser)
16g.3729184C=CA2202916269CREBBPc.5863G= (p.Ala1955=)
c.5749G= (p.Ala1917=)
c.5818G= (p.Ala1940=)
c.5446G= (p.Ala1816=)
c.5602G= (p.Ala1868=)
c.5809G= (p.Ala1937=)
c.5110G= (p.Ala1704=)
c.5857G= (p.Ala1953=)
16g.3729184C>GCA394555181CREBBPc.5863G>C (p.Ala1955Pro)
c.5749G>C (p.Ala1917Pro)
c.5818G>C (p.Ala1940Pro)
c.5446G>C (p.Ala1816Pro)
c.5602G>C (p.Ala1868Pro)
c.5809G>C (p.Ala1937Pro)
c.5110G>C (p.Ala1704Pro)
c.5857G>C (p.Ala1953Pro)
dbSNP
16g.3729184C>TCA394555180CREBBPc.5863G>A (p.Ala1955Thr)
c.5749G>A (p.Ala1917Thr)
c.5818G>A (p.Ala1940Thr)
c.5446G>A (p.Ala1816Thr)
c.5602G>A (p.Ala1868Thr)
c.5809G>A (p.Ala1937Thr)
c.5110G>A (p.Ala1704Thr)
c.5857G>A (p.Ala1953Thr)
16g.3729185T>ACA493393882CREBBPc.5862A>T (p.Ala1954=)
c.5748A>T (p.Ala1916=)
c.5817A>T (p.Ala1939=)
c.5445A>T (p.Ala1815=)
c.5601A>T (p.Ala1867=)
c.5808A>T (p.Ala1936=)
c.5109A>T (p.Ala1703=)
c.5856A>T (p.Ala1952=)
dbSNP
16g.3729185T>CCA493393884CREBBPc.5862A>G (p.Ala1954=)
c.5748A>G (p.Ala1916=)
c.5817A>G (p.Ala1939=)
c.5445A>G (p.Ala1815=)
c.5601A>G (p.Ala1867=)
c.5808A>G (p.Ala1936=)
c.5109A>G (p.Ala1703=)
c.5856A>G (p.Ala1952=)
dbSNP gnomAD v2 gnomAD v4
16g.3729185T>GCA493393883CREBBPc.5862A>C (p.Ala1954=)
c.5748A>C (p.Ala1916=)
c.5817A>C (p.Ala1939=)
c.5445A>C (p.Ala1815=)
c.5601A>C (p.Ala1867=)
c.5808A>C (p.Ala1936=)
c.5109A>C (p.Ala1703=)
c.5856A>C (p.Ala1952=)
dbSNP gnomAD v4
16g.3729185T=CA2202916270CREBBPc.5862A= (p.Ala1954=)
c.5748A= (p.Ala1916=)
c.5817A= (p.Ala1939=)
c.5445A= (p.Ala1815=)
c.5601A= (p.Ala1867=)
c.5808A= (p.Ala1936=)
c.5109A= (p.Ala1703=)
c.5856A= (p.Ala1952=)
16g.3729186G>ACA394555184CREBBPc.5861C>T (p.Ala1954Val)
c.5747C>T (p.Ala1916Val)
c.5816C>T (p.Ala1939Val)
c.5444C>T (p.Ala1815Val)
c.5600C>T (p.Ala1867Val)
c.5807C>T (p.Ala1936Val)
c.5108C>T (p.Ala1703Val)
c.5855C>T (p.Ala1952Val)
dbSNP gnomAD v4
16g.3729186G>CCA394555186CREBBPc.5861C>G (p.Ala1954Gly)
c.5747C>G (p.Ala1916Gly)
c.5816C>G (p.Ala1939Gly)
c.5444C>G (p.Ala1815Gly)
c.5600C>G (p.Ala1867Gly)
c.5807C>G (p.Ala1936Gly)
c.5108C>G (p.Ala1703Gly)
c.5855C>G (p.Ala1952Gly)
16g.3729186G>TCA394555187CREBBPc.5861C>A (p.Ala1954Glu)
c.5747C>A (p.Ala1916Glu)
c.5816C>A (p.Ala1939Glu)
c.5444C>A (p.Ala1815Glu)
c.5600C>A (p.Ala1867Glu)
c.5807C>A (p.Ala1936Glu)
c.5108C>A (p.Ala1703Glu)
c.5855C>A (p.Ala1952Glu)
gnomAD v4
16g.3729187C>ACA394555190CREBBPc.5860G>T (p.Ala1954Ser)
c.5746G>T (p.Ala1916Ser)
c.5815G>T (p.Ala1939Ser)
c.5443G>T (p.Ala1815Ser)
c.5599G>T (p.Ala1867Ser)
c.5806G>T (p.Ala1936Ser)
c.5107G>T (p.Ala1703Ser)
c.5854G>T (p.Ala1952Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729187C=CA2202916271CREBBPc.5860G= (p.Ala1954=)
c.5746G= (p.Ala1916=)
c.5815G= (p.Ala1939=)
c.5443G= (p.Ala1815=)
c.5599G= (p.Ala1867=)
c.5806G= (p.Ala1936=)
c.5107G= (p.Ala1703=)
c.5854G= (p.Ala1952=)
16g.3729187C>GCA394555192CREBBPc.5860G>C (p.Ala1954Pro)
c.5746G>C (p.Ala1916Pro)
c.5815G>C (p.Ala1939Pro)
c.5443G>C (p.Ala1815Pro)
c.5599G>C (p.Ala1867Pro)
c.5806G>C (p.Ala1936Pro)
c.5107G>C (p.Ala1703Pro)
c.5854G>C (p.Ala1952Pro)
dbSNP gnomAD v4
16g.3729187C>TCA394555193CREBBPc.5860G>A (p.Ala1954Thr)
c.5746G>A (p.Ala1916Thr)
c.5815G>A (p.Ala1939Thr)
c.5443G>A (p.Ala1815Thr)
c.5599G>A (p.Ala1867Thr)
c.5806G>A (p.Ala1936Thr)
c.5107G>A (p.Ala1703Thr)
c.5854G>A (p.Ala1952Thr)
dbSNP gnomAD v4
16g.3729188A=CA2202916272CREBBPc.5859T= (p.Pro1953=)
c.5745T= (p.Pro1915=)
c.5814T= (p.Pro1938=)
c.5442T= (p.Pro1814=)
c.5598T= (p.Pro1866=)
c.5805T= (p.Pro1935=)
c.5106T= (p.Pro1702=)
c.5853T= (p.Pro1951=)
16g.3729188A>CCA493393888CREBBPc.5859T>G (p.Pro1953=)
c.5745T>G (p.Pro1915=)
c.5814T>G (p.Pro1938=)
c.5442T>G (p.Pro1814=)
c.5598T>G (p.Pro1866=)
c.5805T>G (p.Pro1935=)
c.5106T>G (p.Pro1702=)
c.5853T>G (p.Pro1951=)
16g.3729188A>GCA276971976CREBBPc.5859T>C (p.Pro1953=)
c.5745T>C (p.Pro1915=)
c.5814T>C (p.Pro1938=)
c.5442T>C (p.Pro1814=)
c.5598T>C (p.Pro1866=)
c.5805T>C (p.Pro1935=)
c.5106T>C (p.Pro1702=)
c.5853T>C (p.Pro1951=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729188A>TCA493393889CREBBPc.5859T>A (p.Pro1953=)
c.5745T>A (p.Pro1915=)
c.5814T>A (p.Pro1938=)
c.5442T>A (p.Pro1814=)
c.5598T>A (p.Pro1866=)
c.5805T>A (p.Pro1935=)
c.5106T>A (p.Pro1702=)
c.5853T>A (p.Pro1951=)
dbSNP gnomAD v2 gnomAD v4
16g.3729189G>ACA394555197CREBBPc.5858C>T (p.Pro1953Leu)
c.5744C>T (p.Pro1915Leu)
c.5813C>T (p.Pro1938Leu)
c.5441C>T (p.Pro1814Leu)
c.5597C>T (p.Pro1866Leu)
c.5804C>T (p.Pro1935Leu)
c.5105C>T (p.Pro1702Leu)
c.5852C>T (p.Pro1951Leu)
dbSNP gnomAD v3 gnomAD v4
16g.3729189G>CCA394555199CREBBPc.5858C>G (p.Pro1953Arg)
c.5744C>G (p.Pro1915Arg)
c.5813C>G (p.Pro1938Arg)
c.5441C>G (p.Pro1814Arg)
c.5597C>G (p.Pro1866Arg)
c.5804C>G (p.Pro1935Arg)
c.5105C>G (p.Pro1702Arg)
c.5852C>G (p.Pro1951Arg)
dbSNP
16g.3729189G=CA2202916273CREBBPc.5858C= (p.Pro1953=)
c.5744C= (p.Pro1915=)
c.5813C= (p.Pro1938=)
c.5441C= (p.Pro1814=)
c.5597C= (p.Pro1866=)
c.5804C= (p.Pro1935=)
c.5105C= (p.Pro1702=)
c.5852C= (p.Pro1951=)
16g.3729189G>TCA394555201CREBBPc.5858C>A (p.Pro1953His)
c.5744C>A (p.Pro1915His)
c.5813C>A (p.Pro1938His)
c.5441C>A (p.Pro1814His)
c.5597C>A (p.Pro1866His)
c.5804C>A (p.Pro1935His)
c.5105C>A (p.Pro1702His)
c.5852C>A (p.Pro1951His)
gnomAD v4
16g.3729190G>ACA394555207CREBBPc.5857C>T (p.Pro1953Ser)
c.5743C>T (p.Pro1915Ser)
c.5812C>T (p.Pro1938Ser)
c.5440C>T (p.Pro1814Ser)
c.5596C>T (p.Pro1866Ser)
c.5803C>T (p.Pro1935Ser)
c.5104C>T (p.Pro1702Ser)
c.5851C>T (p.Pro1951Ser)
dbSNP gnomAD v4
16g.3729190G>CCA394555205CREBBPc.5857C>G (p.Pro1953Ala)
c.5743C>G (p.Pro1915Ala)
c.5812C>G (p.Pro1938Ala)
c.5440C>G (p.Pro1814Ala)
c.5596C>G (p.Pro1866Ala)
c.5803C>G (p.Pro1935Ala)
c.5104C>G (p.Pro1702Ala)
c.5851C>G (p.Pro1951Ala)
dbSNP
16g.3729190G=CA2202916274CREBBPc.5857C= (p.Pro1953=)
c.5743C= (p.Pro1915=)
c.5812C= (p.Pro1938=)
c.5440C= (p.Pro1814=)
c.5596C= (p.Pro1866=)
c.5803C= (p.Pro1935=)
c.5104C= (p.Pro1702=)
c.5851C= (p.Pro1951=)
16g.3729190G>TCA394555203CREBBPc.5857C>A (p.Pro1953Thr)
c.5743C>A (p.Pro1915Thr)
c.5812C>A (p.Pro1938Thr)
c.5440C>A (p.Pro1814Thr)
c.5596C>A (p.Pro1866Thr)
c.5803C>A (p.Pro1935Thr)
c.5104C>A (p.Pro1702Thr)
c.5851C>A (p.Pro1951Thr)
gnomAD v4
16g.3729191_3729210dupCA2695222623CREBBPc.5838_5857dup (p.Pro1953HisfsTer30)
c.5724_5743dup (p.Pro1915HisfsTer30)
c.5793_5812dup (p.Pro1938HisfsTer30)
c.5421_5440dup (p.Pro1814HisfsTer30)
c.5577_5596dup (p.Pro1866HisfsTer30)
c.5784_5803dup (p.Pro1935HisfsTer30)
c.5085_5104dup (p.Pro1702HisfsTer30)
c.5832_5851dup (p.Pro1951HisfsTer30)
16g.3729191A=CA2202916275CREBBPc.5856T= (p.Pro1952=)
c.5742T= (p.Pro1914=)
c.5811T= (p.Pro1937=)
c.5439T= (p.Pro1813=)
c.5595T= (p.Pro1865=)
c.5802T= (p.Pro1934=)
c.5103T= (p.Pro1701=)
c.5850T= (p.Pro1950=)
16g.3729191A>CCA493393890CREBBPc.5856T>G (p.Pro1952=)
c.5742T>G (p.Pro1914=)
c.5811T>G (p.Pro1937=)
c.5439T>G (p.Pro1813=)
c.5595T>G (p.Pro1865=)
c.5802T>G (p.Pro1934=)
c.5103T>G (p.Pro1701=)
c.5850T>G (p.Pro1950=)
gnomAD v3 gnomAD v4
16g.3729191A>GCA493393891CREBBPc.5856T>C (p.Pro1952=)
c.5742T>C (p.Pro1914=)
c.5811T>C (p.Pro1937=)
c.5439T>C (p.Pro1813=)
c.5595T>C (p.Pro1865=)
c.5802T>C (p.Pro1934=)
c.5103T>C (p.Pro1701=)
c.5850T>C (p.Pro1950=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729191A>TCA493393893CREBBPc.5856T>A (p.Pro1952=)
c.5742T>A (p.Pro1914=)
c.5811T>A (p.Pro1937=)
c.5439T>A (p.Pro1813=)
c.5595T>A (p.Pro1865=)
c.5802T>A (p.Pro1934=)
c.5103T>A (p.Pro1701=)
c.5850T>A (p.Pro1950=)
dbSNP gnomAD v4
16g.3729191dupCA915949065CREBBPc.5856dup (p.Pro1953SerfsTer13)
c.5742dup (p.Pro1915SerfsTer13)
c.5811dup (p.Pro1938SerfsTer13)
c.5439dup (p.Pro1814SerfsTer13)
c.5595dup (p.Pro1866SerfsTer13)
c.5802dup (p.Pro1935SerfsTer13)
c.5103dup (p.Pro1702SerfsTer13)
c.5850dup (p.Pro1951SerfsTer13)
ClinVar dbSNP
16g.3729192G>ACA394555209CREBBPc.5855C>T (p.Pro1952Leu)
c.5741C>T (p.Pro1914Leu)
c.5810C>T (p.Pro1937Leu)
c.5438C>T (p.Pro1813Leu)
c.5594C>T (p.Pro1865Leu)
c.5801C>T (p.Pro1934Leu)
c.5102C>T (p.Pro1701Leu)
c.5849C>T (p.Pro1950Leu)
dbSNP gnomAD v4
16g.3729192G>CCA394555211CREBBPc.5855C>G (p.Pro1952Arg)
c.5741C>G (p.Pro1914Arg)
c.5810C>G (p.Pro1937Arg)
c.5438C>G (p.Pro1813Arg)
c.5594C>G (p.Pro1865Arg)
c.5801C>G (p.Pro1934Arg)
c.5102C>G (p.Pro1701Arg)
c.5849C>G (p.Pro1950Arg)
dbSNP gnomAD v2
16g.3729192G=CA2202916276CREBBPc.5855C= (p.Pro1952=)
c.5741C= (p.Pro1914=)
c.5810C= (p.Pro1937=)
c.5438C= (p.Pro1813=)
c.5594C= (p.Pro1865=)
c.5801C= (p.Pro1934=)
c.5102C= (p.Pro1701=)
c.5849C= (p.Pro1950=)
16g.3729192G>TCA394555213CREBBPc.5855C>A (p.Pro1952His)
c.5741C>A (p.Pro1914His)
c.5810C>A (p.Pro1937His)
c.5438C>A (p.Pro1813His)
c.5594C>A (p.Pro1865His)
c.5801C>A (p.Pro1934His)
c.5102C>A (p.Pro1701His)
c.5849C>A (p.Pro1950His)
dbSNP gnomAD v4
16g.3729196delCA2631403617CREBBPc.5855del (p.Pro1952LeufsTer24)
c.5741del (p.Pro1914LeufsTer24)
c.5810del (p.Pro1937LeufsTer24)
c.5438del (p.Pro1813LeufsTer24)
c.5594del (p.Pro1865LeufsTer24)
c.5801del (p.Pro1934LeufsTer24)
c.5102del (p.Pro1701LeufsTer24)
c.5849del (p.Pro1950LeufsTer24)
gnomAD v4
16g.3729200_3729265delCA2631403618CREBBPc.5790_5855del (p.Thr1931_Pro1952del)
c.5676_5741del (p.Thr1893_Pro1914del)
c.5745_5810del (p.Thr1916_Pro1937del)
c.5373_5438del (p.Thr1792_Pro1813del)
c.5529_5594del (p.Thr1844_Pro1865del)
c.5736_5801del (p.Thr1913_Pro1934del)
c.5037_5102del (p.Thr1680_Pro1701del)
c.5784_5849del (p.Thr1929_Pro1950del)
gnomAD v4
16g.3729193G>ACA394555215CREBBPc.5854C>T (p.Pro1952Ser)
c.5740C>T (p.Pro1914Ser)
c.5809C>T (p.Pro1937Ser)
c.5437C>T (p.Pro1813Ser)
c.5593C>T (p.Pro1865Ser)
c.5800C>T (p.Pro1934Ser)
c.5101C>T (p.Pro1701Ser)
c.5848C>T (p.Pro1950Ser)
gnomAD v4
16g.3729193G>CCA394555217CREBBPc.5854C>G (p.Pro1952Ala)
c.5740C>G (p.Pro1914Ala)
c.5809C>G (p.Pro1937Ala)
c.5437C>G (p.Pro1813Ala)
c.5593C>G (p.Pro1865Ala)
c.5800C>G (p.Pro1934Ala)
c.5101C>G (p.Pro1701Ala)
c.5848C>G (p.Pro1950Ala)
16g.3729193G>TCA394555219CREBBPc.5854C>A (p.Pro1952Thr)
c.5740C>A (p.Pro1914Thr)
c.5809C>A (p.Pro1937Thr)
c.5437C>A (p.Pro1813Thr)
c.5593C>A (p.Pro1865Thr)
c.5800C>A (p.Pro1934Thr)
c.5101C>A (p.Pro1701Thr)
c.5848C>A (p.Pro1950Thr)
gnomAD v4

Number of alleles fetched